|
a |
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b/test_variants |
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1 |
ID,Gene,Variation |
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|
2 |
0,ACSL4,R570S |
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|
3 |
1,NAGLU,P521L |
|
|
4 |
2,PAH,L333F |
|
|
5 |
3,ING1,A148D |
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|
6 |
4,TMEM216,G77A |
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7 |
5,CD40LG,A123E |
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|
8 |
6,KLF11,T220M |
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|
9 |
7,SGCB,T151R |
|
|
10 |
8,CLCF1,R197L |
|
|
11 |
9,SDHAF1,R55P |
|
|
12 |
10,SPTLC2,I504F |
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|
13 |
11,SUMF1,A348P |
|
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14 |
12,TET2,Y1902A |
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15 |
13,G6PD,D312H |
|
|
16 |
14,SNCB,P123H |
|
|
17 |
15,EFNB1,M158V |
|
|
18 |
16,PKHD1,V3471G |
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19 |
17,F8,R2323H |
|
|
20 |
18,PGK1,T352N |
|
|
21 |
19,MTOR,D2512H |
|
|
22 |
20,KRT2,N186K |
|
|
23 |
21,KIT,D52N |
|
|
24 |
22,PTEN,G132V |
|
|
25 |
23,ABCA12,G1381E |
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|
26 |
24,HSD3B7,E147K |
|
|
27 |
25,TBX5,G80R |
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|
28 |
26,CSRP3,K69R |
|
|
29 |
27,CASR,A996S |
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30 |
28,EFNB1,T111I |
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|
31 |
29,ACADS,R380W |
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|
32 |
30,NDP,R121L |
|
|
33 |
31,DHCR7,R404C |
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|
34 |
32,SERPINI1,G392E |
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|
35 |
33,F8,G1967D |
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|
36 |
34,ABCA1,F2009S |
|
|
37 |
35,ZFPM2,E30G |
|
|
38 |
36,NR3C2,G633R |
|
|
39 |
37,PRPS1,A87T |
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|
40 |
38,KCNQ1,T312I |
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41 |
39,NEU1,R225P |
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|
42 |
40,CASR,F128L |
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43 |
41,TSHR,C600R |
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|
44 |
42,GALT,P183T |
|
|
45 |
43,PAX3,N47K |
|
|
46 |
44,TAZ,R94S |
|
|
47 |
45,GALT,F171S |
|
|
48 |
46,ATRX,Y2084H |
|
|
49 |
47,PROC,G343S |
|
|
50 |
48,CLRN1,M120K |
|
|
51 |
49,MCCC1,S535F |
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|
52 |
50,PITX2,R115H |
|
|
53 |
51,ABCD1,R418W |
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|
54 |
52,CDH23,R3189W |
|
|
55 |
53,KCNJ11,P254L |
|
|
56 |
54,TSC1,K587R |
|
|
57 |
55,SPOP,F125V |
|
|
58 |
56,PHYH,Q176K |
|
|
59 |
57,HSD17B3,N130S |
|
|
60 |
58,HSD17B10,R130C |
|
|
61 |
59,GDAP1,Q218E |
|
|
62 |
60,CYP17A1,P342T |
|
|
63 |
61,COCH,C542F |
|
|
64 |
62,F8,C348S |
|
|
65 |
63,SHH,A383T |
|
|
66 |
64,KEAP1,C23Y |
|
|
67 |
65,SCN4A,G1456E |
|
|
68 |
66,UMOD,C255Y |
|
|
69 |
67,CFTR,S912L |
|
|
70 |
68,PAX6,R26G |
|
|
71 |
69,ABCA4,P1380L |
|
|
72 |
70,CDKN2A,G35V |
|
|
73 |
71,PPT1,D79G |
|
|
74 |
72,BRCA2,A2911E |
|
|
75 |
73,PRKN,C212Y |
|
|
76 |
74,OFD1,S435R |
|
|
77 |
75,CYP27B1,L343F |
|
|
78 |
76,MYOC,Q48H |
|
|
79 |
77,AGXT,R233H |
|
|
80 |
78,GPR143,T232K |
|
|
81 |
79,TP63,R319C |
|
|
82 |
80,UBE3A,T106P |
|
|
83 |
81,PAH,V245A |
|
|
84 |
82,PARK7,E64D |
|
|
85 |
83,CLDN16,M71R |
|
|
86 |
84,FXYD2,G39R |
|
|
87 |
85,LRP5,R570Q |
|
|
88 |
86,TRMU,Y77H |
|
|
89 |
87,PINK1,T313M |
|
|
90 |
88,CD40LG,W140G |
|
|
91 |
89,IDH1,R132S |
|
|
92 |
90,SLC4A11,R739Q |
|
|
93 |
91,HADHA,L342P |
|
|
94 |
92,GBA,D448V |
|
|
95 |
93,KIT,N822K |
|
|
96 |
94,SLC34A3,A413E |
|
|
97 |
95,EFHC1,D253Y |
|
|
98 |
96,GJC2,I36M |
|
|
99 |
97,MFN2,R707W |
|
|
100 |
98,SLC2A10,S81R |
|
|
101 |
99,PAH,A259V |
|
|
102 |
100,PEPD,G448R |
|
|
103 |
101,IFT122,V553G |
|
|
104 |
102,OCA2,A481T |
|
|
105 |
103,COMP,D342Y |
|
|
106 |
104,SDHAF2,G78R |
|
|
107 |
105,TYR,P21S |
|
|
108 |
106,VWF,R854Q |
|
|
109 |
107,SLC39A4,G374R |
|
|
110 |
108,PAH,R261Q |
|
|
111 |
109,TARDBP,G294A |
|
|
112 |
110,VHL,P192S |
|
|
113 |
111,ETV1,Amplification |
|
|
114 |
112,MED13L,D2023G |
|
|
115 |
113,JAK1,F958C |
|
|
116 |
114,CYP11B1,P94L |
|
|
117 |
115,ATM,D1682H |
|
|
118 |
116,ABCA4,R18W |
|
|
119 |
117,DPAGT1,Y170C |
|
|
120 |
118,ARSA,R392W |
|
|
121 |
119,KIT,P551_M552del |
|
|
122 |
120,ACOX1,M278V |
|
|
123 |
121,BRCA1,T1773I |
|
|
124 |
122,GBA,F255Y |
|
|
125 |
123,SI,Q1098P |
|
|
126 |
124,UROS,G188W |
|
|
127 |
125,VWF,N528S |
|
|
128 |
126,TGFBR2,E526Q |
|
|
129 |
127,PRPS1,I290T |
|
|
130 |
128,NDP,S75C |
|
|
131 |
129,GNPTG,G106S |
|
|
132 |
130,MPO,R499C |
|
|
133 |
131,PROC,A309T |
|
|
134 |
132,TEK,Y897S |
|
|
135 |
133,VCP,R159H |
|
|
136 |
134,SAR1B,S179R |
|
|
137 |
135,BIN1,R154Q |
|
|
138 |
136,FOXC1,S131L |
|
|
139 |
137,TP53,Q144P |
|
|
140 |
138,POMT1,A200P |
|
|
141 |
139,ABCC8,R1380C |
|
|
142 |
140,RP9,D170G |
|
|
143 |
141,CTSC,Q252L |
|
|
144 |
142,FLNA,D203Y |
|
|
145 |
143,TPO,I447F |
|
|
146 |
144,CAV3,P105L |
|
|
147 |
145,NDP,A105T |
|
|
148 |
146,GATA4,D425N |
|
|
149 |
147,UROD,R292G |
|
|
150 |
148,IL2RG,C115R |
|
|
151 |
149,ACTN4,S262P |
|
|
152 |
150,LRP5,V667M |
|
|
153 |
151,KRT12,Y429D |
|
|
154 |
152,SI,F1745C |
|
|
155 |
153,KCNJ10,C140R |
|
|
156 |
154,NPHS2,V180M |
|
|
157 |
155,SLC35C1,R147C |
|
|
158 |
156,PGK1,D164V |
|
|
159 |
157,ACAT1,Q145E |
|
|
160 |
158,EIF2B4,C465R |
|
|
161 |
159,BRCA2,Truncating Mutations |
|
|
162 |
160,LRP5,G610R |
|
|
163 |
161,TMEM216,R73L |
|
|
164 |
162,SERPINI1,G392R |
|
|
165 |
163,TCOF1,Y50C |
|
|
166 |
164,PAX6,S119R |
|
|
167 |
165,ABCC8,R1437Q |
|
|
168 |
166,SMN1,S262G |
|
|
169 |
167,BEST1,L41P |
|
|
170 |
168,VPS13B,I2820T |
|
|
171 |
169,CTSA,L236P |
|
|
172 |
170,PCSK9,S127R |
|
|
173 |
171,ABCA4,Y340D |
|
|
174 |
172,CAV3,A93T |
|
|
175 |
173,TECTA,C1837R |
|
|
176 |
174,PPARG,P12A |
|
|
177 |
175,GCH1,A196S |
|
|
178 |
176,SDHD,H50R |
|
|
179 |
177,LDLR,G546D |
|
|
180 |
178,GLDC,S564I |
|
|
181 |
179,FECH,G55C |
|
|
182 |
180,ALDH5A1,G409D |
|
|
183 |
181,ANKK1,E713K |
|
|
184 |
182,KRT2,N186Y |
|
|
185 |
183,MEFV,H478Y |
|
|
186 |
184,SIX6,T165A |
|
|
187 |
185,AKAP9,S1570L |
|
|
188 |
186,F11,T404N |
|
|
189 |
187,MYBPC3,N948T |
|
|
190 |
188,KCNQ1,G589D |
|
|
191 |
189,F9,G357R |
|
|
192 |
190,KRT12,L140R |
|
|
193 |
191,SCN4A,I693T |
|
|
194 |
192,MUTYH,G396D |
|
|
195 |
193,VSX1,L17P |
|
|
196 |
194,PRKAG2,H530R |
|
|
197 |
195,PDHA1,F205L |
|
|
198 |
196,KCNJ11,H259R |
|
|
199 |
197,SCN4A,V1589M |
|
|
200 |
198,UBIAD1,N102S |
|
|
201 |
199,ACADM,R281T |
|
|
202 |
200,NOD2,R334W |
|
|
203 |
201,TUBB2B,S172P |
|
|
204 |
202,JAG1,R184H |
|
|
205 |
203,LGI1,E383A |
|
|
206 |
204,KCNJ1,M338T |
|
|
207 |
205,CYP1B1,N423Y |
|
|
208 |
206,AR,H690P |
|
|
209 |
207,PHKA2,R186C |
|
|
210 |
208,G6PD,V98M |
|
|
211 |
209,SLC34A3,R468W |
|
|
212 |
210,TPO,E799K |
|
|
213 |
211,SERPINA7,I116N |
|
|
214 |
212,ARX,P353L |
|
|
215 |
213,PAFAH1B1,H277P |
|
|
216 |
214,CFTR,E92K |
|
|
217 |
215,BRCA2,G173C |
|
|
218 |
216,CLCN5,G127V |
|
|
219 |
217,OXCT1,C456F |
|
|
220 |
218,PC,R156Q |
|
|
221 |
219,SERPING1,A458T |
|
|
222 |
220,SH3BP2,P418R |
|
|
223 |
221,C2,E318D |
|
|
224 |
222,TECTA,L1820F |
|
|
225 |
223,ACVR2B,V494I |
|
|
226 |
224,SDHA,A524V |
|
|
227 |
225,CTNS,N323K |
|
|
228 |
226,GNAQ,R183Q |
|
|
229 |
227,ASL,R95C |
|
|
230 |
228,ADGRG1,Y88C |
|
|
231 |
229,IKBKG,D406V |
|
|
232 |
230,F8,A2211P |
|
|
233 |
231,ADAMTS10,G700C |
|
|
234 |
232,F8,G41C |
|
|
235 |
233,PGAM2,E89A |
|
|
236 |
234,MTOR,R2152C |
|
|
237 |
235,TP63,I549T |
|
|
238 |
236,GLA,R356W |
|
|
239 |
237,ETFA,G116R |
|
|
240 |
238,NOBOX,R355H |
|
|
241 |
239,EIF2B4,R374C |
|
|
242 |
240,LDB3,D117N |
|
|
243 |
241,F8,E1057K |
|
|
244 |
242,CHST6,L200R |
|
|
245 |
243,WT1,C398Y |
|
|
246 |
244,ZNF41,P111L |
|
|
247 |
245,ATM,L2656P |
|
|
248 |
246,P2RY12,R256Q |
|
|
249 |
247,MEFV,F479L |
|
|
250 |
248,HR,T1022A |
|
|
251 |
249,HLCS,L237P |
|
|
252 |
250,F8,R2135P |
|
|
253 |
251,SLC34A3,R353L |
|
|
254 |
252,G6PC3,M116V |
|
|
255 |
253,MAN2B1,R750W |
|
|
256 |
254,KRT12,M129T |
|
|
257 |
255,BEST1,R47H |
|
|
258 |
256,FAM20C,G379E |
|
|
259 |
257,AR,A722T |
|
|
260 |
258,SLC40A1,A77D |
|
|
261 |
259,UROS,T62A |
|
|
262 |
260,ADAMTS10,G518D |
|
|
263 |
261,CTH,T67I |
|
|
264 |
262,ADAMTS13,P475S |
|
|
265 |
263,DNMT3B,V818M |
|
|
266 |
264,SIX1,W122R |
|
|
267 |
265,BCKDHA,Y438N |
|
|
268 |
266,CTNS,S139F |
|
|
269 |
267,AMACR,S52P |
|
|
270 |
268,RANBP2,I656V |
|
|
271 |
269,CFTR,L206W |
|
|
272 |
270,PDHA1,D315N |
|
|
273 |
271,IMPG2,F124L |
|
|
274 |
272,CTSA,W83R |
|
|
275 |
273,BTK,L652P |
|
|
276 |
274,CASK,W914R |
|
|
277 |
275,GHR,H168Q |
|
|
278 |
276,GLE1,V617M |
|
|
279 |
277,HEXA,W474C |
|
|
280 |
278,KCNJ11,G53S |
|
|
281 |
279,CREBBP,Y1175C |
|
|
282 |
280,CYP27A1,R479G |
|
|
283 |
281,PER2,S662G |
|
|
284 |
282,NOTCH3,R182C |
|
|
285 |
283,RPS6KA3,F268S |
|
|
286 |
284,HAMP,G71D |
|
|
287 |
285,SLC26A4,L445W |
|
|
288 |
286,PIK3CA,E453Q |
|
|
289 |
287,PRPF8,F2304L |
|
|
290 |
288,ADAMTS13,R398H |
|
|
291 |
289,GBA,K118N |
|
|
292 |
290,IFT80,H105Q |
|
|
293 |
291,CDKL5,A40V |
|
|
294 |
292,PRODH,R431H |
|
|
295 |
293,PSEN2,M239I |
|
|
296 |
294,KCNJ11,G53D |
|
|
297 |
295,MSH2,R524P |
|
|
298 |
296,PTPRJ,R214C |
|
|
299 |
297,HIBCH,Y122C |
|
|
300 |
298,DYNC2H1,D3015G |
|
|
301 |
299,CASP10,A414V |
|
|
302 |
300,HPRT1,S104R |
|
|
303 |
301,PGK1,I253T |
|
|
304 |
302,SLC25A20,Q238R |
|
|
305 |
303,MPO,R569W |
|
|
306 |
304,IRS2,L647V |
|
|
307 |
305,TWIST1,A186T |
|
|
308 |
306,F9,M394V |
|
|
309 |
307,SLC45A2,E272K |
|
|
310 |
308,WISP3,C145Y |
|
|
311 |
309,BSND,R8W |
|
|
312 |
310,BTD,G34S |
|
|
313 |
311,ATP7B,T766R |
|
|
314 |
312,EDA,T338M |
|
|
315 |
313,ETHE1,R163W |
|
|
316 |
314,SGCG,E263K |
|
|
317 |
315,CASR,R795W |
|
|
318 |
316,MEFV,V726A |
|
|
319 |
317,AARS,R329H |
|
|
320 |
318,LHX3,Y111C |
|
|
321 |
319,BLM,C1036F |
|
|
322 |
320,PC,R583L |
|
|
323 |
321,CHST3,L161F |
|
|
324 |
322,STS,W372S |
|
|
325 |
323,GALNS,R259Q |
|
|
326 |
324,BUB1B,R814H |
|
|
327 |
325,LRP4,T461P |
|
|
328 |
326,KCNQ1,T587M |
|
|
329 |
327,PLP1,G221C |
|
|
330 |
328,SLC25A22,G236W |
|
|
331 |
329,SCN5A,R367H |
|
|
332 |
330,HEXA,G454S |
|
|
333 |
331,KRT12,R135I |
|
|
334 |
332,SCN4B,L179F |
|
|
335 |
333,ACAT1,I312T |
|
|
336 |
334,SPTLC1,C133Y |
|
|
337 |
335,CEP290,W7C |
|
|
338 |
336,EDAR,V370A |
|
|
339 |
337,ARSB,R95Q |
|
|
340 |
338,PROC,R220W |
|
|
341 |
339,TARDBP,Q343R |
|
|
342 |
340,PRKAG2,Y487H |
|
|
343 |
341,COCH,A119T |
|
|
344 |
342,DYNC2H1,R587C |
|
|
345 |
343,LDLR,V523M |
|
|
346 |
344,PDGFRA,W559_R560del |
|
|
347 |
345,KCNK9,G236R |
|
|
348 |
346,MEFV,M694I |
|
|
349 |
347,DYM,C542R |
|
|
350 |
348,RNF6,R102K |
|
|
351 |
349,SEMA4A,R713Q |
|
|
352 |
350,FAH,R341W |
|
|
353 |
351,SCNN1G,E197K |
|
|
354 |
352,VWF,C1060R |
|
|
355 |
353,EGFR,S720P |
|
|
356 |
354,ASPA,Y231C |
|
|
357 |
355,OAT,R250P |
|
|
358 |
356,FOXC1,I126M |
|
|
359 |
357,ALDH6A1,G446R |
|
|
360 |
358,VWF,C1272R |
|
|
361 |
359,GJC2,R260C |
|
|
362 |
360,FLNA,P1291L |
|
|
363 |
361,ATP7A,S637L |
|
|
364 |
362,PRPF3,A489D |
|
|
365 |
363,MSH6,V878A |
|
|
366 |
364,COMP,N453S |
|
|
367 |
365,SH3PXD2B,R43W |
|
|
368 |
366,KCNJ11,C42R |
|
|
369 |
367,ALX4,R272P |
|
|
370 |
368,SDHD,L139P |
|
|
371 |
369,CYB5R3,T117S |
|
|
372 |
370,CFTR,H949Y |
|
|
373 |
371,POU3F4,K334E |
|
|
374 |
372,OAT,R154L |
|
|
375 |
373,SMPD1,Q294K |
|
|
376 |
374,BRWD3,K1596E |
|
|
377 |
375,RFXANK,D121V |
|
|
378 |
376,PPOX,R168H |
|
|
379 |
377,HGD,H371R |
|
|
380 |
378,MYH14,L1017F |
|
|
381 |
379,PITX2,R91P |
|
|
382 |
380,NOTCH3,R332C |
|
|
383 |
381,PPP2R1A,R183W |
|
|
384 |
382,EWSR1,EWSR1-ERG Fusion |
|
|
385 |
383,CD207,W264R |
|
|
386 |
384,BEST1,T6P |
|
|
387 |
385,COMP,R718W |
|
|
388 |
386,AGXT,I244T |
|
|
389 |
387,PPT1,G108R |
|
|
390 |
388,PAH,E221G |
|
|
391 |
389,RXFP2,T222P |
|
|
392 |
390,KCNJ13,R162W |
|
|
393 |
391,CHST3,E372K |
|
|
394 |
392,SLC2A9,R198C |
|
|
395 |
393,SPAST,I344K |
|
|
396 |
394,MID1,L626P |
|
|
397 |
395,RUNX2,null522S |
|
|
398 |
396,BMP15,R76C |
|
|
399 |
397,KCNJ2,D71V |
|
|
400 |
398,SLC26A4,H723R |
|
|
401 |
399,AAAS,S263P |
|
|
402 |
400,F9,G355V |
|
|
403 |
401,TINF2,R282H |
|
|
404 |
402,CYP21A2,I173N |
|
|
405 |
403,TPP1,C365Y |
|
|
406 |
404,CHEK2,E239K |
|
|
407 |
405,CFTR,G576A |
|
|
408 |
406,SLC33A1,S113R |
|
|
409 |
407,HESX1,E149K |
|
|
410 |
408,CASR,R185Q |
|
|
411 |
409,FBP1,G164S |
|
|
412 |
410,SERPING1,R466C |
|
|
413 |
411,GNE,R277Q |
|
|
414 |
412,NIPAL4,A176D |
|
|
415 |
413,SLC17A5,P334R |
|
|
416 |
414,SCN9A,I848T |
|
|
417 |
415,NBN,I171V |
|
|
418 |
416,ABCG8,G574R |
|
|
419 |
417,CAV3,D28E |
|
|
420 |
418,PMP22,T118M |
|
|
421 |
419,ANKH,L334R |
|
|
422 |
420,TRPS1,R921Q |
|
|
423 |
421,FREM2,E1972K |
|
|
424 |
422,KLHL7,S150N |
|
|
425 |
423,ASAH1,E154V |
|
|
426 |
424,PLOD2,G601V |
|
|
427 |
425,CFTR,Q1291H |
|
|
428 |
426,ERBB4,D931Y |
|
|
429 |
427,EIF2B4,R357Q |
|
|
430 |
428,CLDN19,L90P |
|
|
431 |
429,MMACHC,L116P |
|
|
432 |
430,SH2D1A,R32T |
|
|
433 |
431,KCNJ1,G148E |
|
|
434 |
432,NOD2,R702W |
|
|
435 |
433,NOG,G189C |
|
|
436 |
434,SRD5A2,R227Q |
|
|
437 |
435,ACADM,M149I |
|
|
438 |
436,CSTB,Q71P |
|
|
439 |
437,SLC22A5,P478L |
|
|
440 |
438,ABCC2,Q1382R |
|
|
441 |
439,GATA1,D218G |
|
|
442 |
440,AVP,S87F |
|
|
443 |
441,ATP7A,G1019D |
|
|
444 |
442,CDH1,L711V |
|
|
445 |
443,TSHR,C672Y |
|
|
446 |
444,VKORC1,D36Y |
|
|
447 |
445,DKC1,F36V |
|
|
448 |
446,F9,R384L |
|
|
449 |
447,LDLR,C46S |
|
|
450 |
448,NOG,Y222C |
|
|
451 |
449,CASR,F612S |
|
|
452 |
450,TMEM67,W209L |
|
|
453 |
451,MC2R,S74I |
|
|
454 |
452,CTNS,G110V |
|
|
455 |
453,RNASEH2B,V185G |
|
|
456 |
454,VHL,G93S |
|
|
457 |
455,FXN,W173G |
|
|
458 |
456,NAT2,G286E |
|
|
459 |
457,DLD,G229C |
|
|
460 |
458,GJB1,V95M |
|
|
461 |
459,SERPING1,V454E |
|
|
462 |
460,YARS,E196K |
|
|
463 |
461,ALOXE3,L237M |
|
|
464 |
462,FBLN5,G412E |
|
|
465 |
463,TUBA1A,P263T |
|
|
466 |
464,SLC16A2,L494P |
|
|
467 |
465,FLNA,P207L |
|
|
468 |
466,PC,A610T |
|
|
469 |
467,SGCA,R77C |
|
|
470 |
468,PEPD,D276N |
|
|
471 |
469,TSC1,R509Q |
|
|
472 |
470,HEXA,S210F |
|
|
473 |
471,AFG3L2,R702Q |
|
|
474 |
472,GALNS,R94G |
|
|
475 |
473,GAA,L299R |
|
|
476 |
474,OCRL,R318C |
|
|
477 |
475,TAS2R38,V262A |
|
|
478 |
476,GIF,S46L |
|
|
479 |
477,IYD,I116T |
|
|
480 |
478,F8,D544N |
|
|
481 |
479,TSHR,G431S |
|
|
482 |
480,DCX,R192W |
|
|
483 |
481,PKHD1,V1741M |
|
|
484 |
482,VWF,P1266L |
|
|
485 |
483,F8,G278R |
|
|
486 |
484,OTOF,I515T |
|
|
487 |
485,NKX2-5,E21Q |
|
|
488 |
486,DNAAF1,L175R |
|
|
489 |
487,CFTR,R560T |
|
|
490 |
488,GLA,G328R |
|
|
491 |
489,FZD4,I256V |
|
|
492 |
490,IRS2,G1057D |
|
|
493 |
491,ADAMTS13,R102C |
|
|
494 |
492,GNE,G607E |
|
|
495 |
493,LGI1,R136W |
|
|
496 |
494,GUCA1A,Y99C |
|
|
497 |
495,KRT12,V143L |
|
|
498 |
496,BTK,R288W |
|
|
499 |
497,ALG3,R171Q |
|
|
500 |
498,PYGM,K543T |
|
|
501 |
499,CBS,I278T |
|
|
502 |
500,CLN5,D279N |
|
|
503 |
501,DCX,Y125H |
|
|
504 |
502,STAT1,L600P |
|
|
505 |
503,CYBA,Y72H |
|
|
506 |
504,KLKB1,C548Y |
|
|
507 |
505,MC2R,C251F |
|
|
508 |
506,HPRT1,D201G |
|
|
509 |
507,PLA2G7,V279F |
|
|
510 |
508,LITAF,T115N |
|
|
511 |
509,UNG,F251S |
|
|
512 |
510,MAP2K2,P128Q |
|
|
513 |
511,F8,W604C |
|
|
514 |
512,NDP,R90P |
|
|
515 |
513,DBT,I98M |
|
|
516 |
514,PDX1,C18R |
|
|
517 |
515,ANTXR1,A326T |
|
|
518 |
516,BBS2,N70S |
|
|
519 |
517,CFTR,R347P |
|
|
520 |
518,ARSE,C492Y |
|
|
521 |
519,BBS2,V75G |
|
|
522 |
520,CYP27B1,G125E |
|
|
523 |
521,SLC16A1,G472R |
|
|
524 |
522,EPHB2,A279S |
|
|
525 |
523,CTH,Q240E |
|
|
526 |
524,GAMT,M50L |
|
|
527 |
525,HADHA,V282D |
|
|
528 |
526,ZNF81,S179N |
|
|
529 |
527,MCFD2,D129E |
|
|
530 |
528,PMM2,T226S |
|
|
531 |
529,WNT4,E216G |
|
|
532 |
530,ALAS2,G291S |
|
|
533 |
531,GIGYF2,N56S |
|
|
534 |
532,SH3BP2,G420R |
|
|
535 |
533,PYY,Q62P |
|
|
536 |
534,DAZL,T54A |
|
|
537 |
535,FLT3,D835V |
|
|
538 |
536,DYSF,I1298V |
|
|
539 |
537,EBP,E80K |
|
|
540 |
538,NKX2-5,T178M |
|
|
541 |
539,SLC27A4,Q300R |
|
|
542 |
540,PPARG,P495L |
|
|
543 |
541,TMEM67,C615R |
|
|
544 |
542,SF3B1,H662D |
|
|
545 |
543,GCM2,R47L |
|
|
546 |
544,HMBS,C247R |
|
|
547 |
545,BRAF,F595L |
|
|
548 |
546,GLB1,T500A |
|
|
549 |
547,SCN9A,R996C |
|
|
550 |
548,OTC,Q216E |
|
|
551 |
549,PAH,R243Q |
|
|
552 |
550,LHFPL5,Y127C |
|
|
553 |
551,FLNA,S1199L |
|
|
554 |
552,PIK3R1,Truncating Mutations |
|
|
555 |
553,ERCC6,L987P |
|
|
556 |
554,FMR1,I304N |
|
|
557 |
555,ADSL,S438P |
|
|
558 |
556,FGD1,R522H |
|
|
559 |
557,GFM1,M496R |
|
|
560 |
558,KCNQ4,G285C |
|
|
561 |
559,AVPR2,F105V |
|
|
562 |
560,GATA4,S52F |
|
|
563 |
561,CPT2,P50H |
|
|
564 |
562,TP53,E180K |
|
|
565 |
563,SLC2A9,P383R |
|
|
566 |
564,CARM1,S217E |
|
|
567 |
565,KRT2,E487K |
|
|
568 |
566,SLC37A4,G339C |
|
|
569 |
567,BMPR1A,M470T |
|
|
570 |
568,HMBS,R149Q |
|
|
571 |
569,MMAA,Y207C |
|
|
572 |
570,DKC1,Q31K |
|
|
573 |
571,OAT,N54K |
|
|
574 |
572,MCCC2,H190R |
|
|
575 |
573,F9,A436V |
|
|
576 |
574,PROP1,R120C |
|
|
577 |
575,SIAE,M54V |
|
|
578 |
576,DMD,N2912D |
|
|
579 |
577,TFR2,R455Q |
|
|
580 |
578,SCN9A,Q10R |
|
|
581 |
579,MPO,A332V |
|
|
582 |
580,GLA,M296I |
|
|
583 |
581,HEXA,L39R |
|
|
584 |
582,WT1,R462P |
|
|
585 |
583,SLC6A5,N509S |
|
|
586 |
584,BEST1,E119Q |
|
|
587 |
585,SLC19A3,G23V |
|
|
588 |
586,GCLC,H370L |
|
|
589 |
587,SLC22A12,E298D |
|
|
590 |
588,SCN1B,E87Q |
|
|
591 |
589,NLRP7,P651S |
|
|
592 |
590,SOX9,H165Y |
|
|
593 |
591,MLH3,W1276R |
|
|
594 |
592,PEX12,L317F |
|
|
595 |
593,SIAE,F404S |
|
|
596 |
594,SCN5A,R1192Q |
|
|
597 |
595,SLURP1,G86R |
|
|
598 |
596,CD40LG,M36R |
|
|
599 |
597,WT1,H445Y |
|
|
600 |
598,CLDN16,L145P |
|
|
601 |
599,ACADVL,R613W |
|
|
602 |
600,EIF2B5,W628R |
|
|
603 |
601,KISS1R,L148S |
|
|
604 |
602,BRCA1,I124V |
|
|
605 |
603,SGCA,V175A |
|
|
606 |
604,GJC2,P90S |
|
|
607 |
605,RRM2B,R110H |
|
|
608 |
606,PEX13,I326T |
|
|
609 |
607,ALG8,G275D |
|
|
610 |
608,STRA6,T321P |
|
|
611 |
609,ASS1,W179R |
|
|
612 |
610,SLC22A5,G15W |
|
|
613 |
611,LITAF,L122V |
|
|
614 |
612,PTS,V56M |
|
|
615 |
613,NSDHL,A182P |
|
|
616 |
614,MFN2,W740S |
|
|
617 |
615,SETX,L1976R |
|
|
618 |
616,CDH23,F1888S |
|
|
619 |
617,TP53,K120R |
|
|
620 |
618,DLD,I393T |
|
|
621 |
619,TPO,G590S |
|
|
622 |
620,ABCA4,R572Q |
|
|
623 |
621,GPR143,S89F |
|
|
624 |
622,AR,A597T |
|
|
625 |
623,ADA,R211C |
|
|
626 |
624,PPT1,L219Q |
|
|
627 |
625,OTOF,P1825A |
|
|
628 |
626,PRKN,R275W |
|
|
629 |
627,DARS2,R179H |
|
|
630 |
628,MAN2B1,P356R |
|
|
631 |
629,PNPO,R229W |
|
|
632 |
630,SF3B1,G742D |
|
|
633 |
631,AGA,C306R |
|
|
634 |
632,GBA,W351C |
|
|
635 |
633,GALE,D103G |
|
|
636 |
634,ATL1,S259Y |
|
|
637 |
635,ITGA2B,S957L |
|
|
638 |
636,PDX1,D76N |
|
|
639 |
637,MUT,N219Y |
|
|
640 |
638,BRCA1,T826K |
|
|
641 |
639,PHGDH,R135W |
|
|
642 |
640,MEFV,K695R |
|
|
643 |
641,SLC25A12,Q590R |
|
|
644 |
642,SCNN1B,E539K |
|
|
645 |
643,F11,W587S |
|
|
646 |
644,GDNF,T154S |
|
|
647 |
645,RNASEH2B,A177T |
|
|
648 |
646,PAX6,null423L |
|
|
649 |
647,AR,M788V |
|
|
650 |
648,GBA,K196Q |
|
|
651 |
649,NCF2,D160V |
|
|
652 |
650,SMN1,A111G |
|
|
653 |
651,DIS3,R780K |
|
|
654 |
652,STXBP1,G544D |
|
|
655 |
653,ANKH,M48T |
|
|
656 |
654,C7,G379R |
|
|
657 |
655,SDHD,Y114C |
|
|
658 |
656,ALX3,N203S |
|
|
659 |
657,CYP7B1,F216S |
|
|
660 |
658,WT1,R462W |
|
|
661 |
659,VWF,V1314L |
|
|
662 |
660,D2HGDH,D375Y |
|
|
663 |
661,F9,H303Y |
|
|
664 |
662,LPL,R102S |
|
|
665 |
663,CDH1,Truncating Mutations |
|
|
666 |
664,DYM,N469Y |
|
|
667 |
665,NOTCH3,A1020P |
|
|
668 |
666,PAFAH1B1,G162S |
|
|
669 |
667,BRCA1,M1652I |
|
|
670 |
668,GNMT,H177N |
|
|
671 |
669,SIAE,T277M |
|
|
672 |
670,RPS6KA3,R383W |
|
|
673 |
671,PPP2R1B,G90D |
|
|
674 |
672,GDAP1,R161H |
|
|
675 |
673,SEC23B,R14W |
|
|
676 |
674,CDH1,V832M |
|
|
677 |
675,APOA5,G185C |
|
|
678 |
676,GLDC,A802V |
|
|
679 |
677,EGFR,Fusions |
|
|
680 |
678,NAGLU,R565P |
|
|
681 |
679,CYP1B1,E387K |
|
|
682 |
680,VWF,C2773R |
|
|
683 |
681,BRCA2,D2723A |
|
|
684 |
682,RPL5,G140S |
|
|
685 |
683,NUP93,Y629C |
|
|
686 |
684,TSHR,T477I |
|
|
687 |
685,VKORC1,V45A |
|
|
688 |
686,IKBKAP,P914L |
|
|
689 |
687,CFTR,A559T |
|
|
690 |
688,F8,N1941S |
|
|
691 |
689,MID1,L295P |
|
|
692 |
690,CNNM4,R236Q |
|
|
693 |
691,OAT,C394R |
|
|
694 |
692,BTK,M630K |
|
|
695 |
693,F8,G1779E |
|
|
696 |
694,DKC1,S121G |
|
|
697 |
695,TRPV4,P799L |
|
|
698 |
696,SHOX,null293R |
|
|
699 |
697,VCL,R975W |
|
|
700 |
698,DLD,M361V |
|
|
701 |
699,ABCB7,I401M |
|
|
702 |
700,PNPLA6,R890H |
|
|
703 |
701,F8,V99D |
|
|
704 |
702,F8,R2178C |
|
|
705 |
703,RET,M848T |
|
|
706 |
704,RET,M918T |
|
|
707 |
705,PRPS1,M115T |
|
|
708 |
706,WRN,K577M |
|
|
709 |
707,FTCD,R135C |
|
|
710 |
708,GSS,R125C |
|
|
711 |
709,MBTPS2,F475S |
|
|
712 |
710,PROKR2,R85H |
|
|
713 |
711,LCAT,M276K |
|
|
714 |
712,CLCN2,R577Q |
|
|
715 |
713,IFT80,A701P |
|
|
716 |
714,POMGNT1,C490Y |
|
|
717 |
715,LDLR,G844D |
|
|
718 |
716,FHL1,C132F |
|
|
719 |
717,F8,F677L |
|
|
720 |
718,PHF6,R257G |
|
|
721 |
719,KRIT1,D137G |
|
|
722 |
720,SPAST,R562G |
|
|
723 |
721,PAX6,V54D |
|
|
724 |
722,LITAF,V144M |
|
|
725 |
723,PANK2,G521R |
|
|
726 |
724,RAPSN,E162K |
|
|
727 |
725,WNK4,R1185C |
|
|
728 |
726,SLC22A5,R169Q |
|
|
729 |
727,HFE2,L101P |
|
|
730 |
728,TGFBI,R124L |
|
|
731 |
729,CYP1B1,G61E |
|
|
732 |
730,ARL13B,R79Q |
|
|
733 |
731,PROC,P289L |
|
|
734 |
732,CA2,H107Y |
|
|
735 |
733,BIN1,K35N |
|
|
736 |
734,FLCN,S79W |
|
|
737 |
735,MUT,A377E |
|
|
738 |
736,SMARCAL1,R586W |
|
|
739 |
737,AVP,C116G |
|
|
740 |
738,PMM2,T237R |
|
|
741 |
739,EIF2B5,G386V |
|
|
742 |
740,NF1,L1953P |
|
|
743 |
741,LRTOMT,W105R |
|
|
744 |
742,ADA,R76W |
|
|
745 |
743,GBA,V437F |
|
|
746 |
744,GM2A,C138R |
|
|
747 |
745,F11,A430V |
|
|
748 |
746,RPGRIP1,R827L |
|
|
749 |
747,ATP6V0A4,M580T |
|
|
750 |
748,HGSNAT,S518F |
|
|
751 |
749,GPC3,G556R |
|
|
752 |
750,BMPR2,R899P |
|
|
753 |
751,RPS19,V15F |
|
|
754 |
752,TLL1,M182L |
|
|
755 |
753,SPAST,P45Q |
|
|
756 |
754,GIGYF2,N457T |
|
|
757 |
755,MC2R,S120R |
|
|
758 |
756,SH3BP2,P418L |
|
|
759 |
757,CYP27A1,R474W |
|
|
760 |
758,KLF6,S155R |
|
|
761 |
759,OTC,L148F |
|
|
762 |
760,ATM,E2423G |
|
|
763 |
761,ZDHHC9,P150S |
|
|
764 |
762,PTPN11,I282V |
|
|
765 |
763,VWF,R1597W |
|
|
766 |
764,SIX3,G69D |
|
|
767 |
765,IDS,P160R |
|
|
768 |
766,BRCA1,T231M |
|
|
769 |
767,PIGV,A341E |
|
|
770 |
768,LRRK2,R1441H |
|
|
771 |
769,FKRP,R134W |
|
|
772 |
770,CACNA1A,F1403C |
|
|
773 |
771,TP63,R243W |
|
|
774 |
772,SPTLC2,V359M |
|
|
775 |
773,LEFTY2,S342N |
|
|
776 |
774,NDUFAF4,L65P |
|
|
777 |
775,UROS,C73R |
|
|
778 |
776,LDB3,R268C |
|
|
779 |
777,SYNE2,T6211M |
|
|
780 |
778,HMBS,R167L |
|
|
781 |
779,FKRP,N463D |
|
|
782 |
780,ECE1,R738C |
|
|
783 |
781,CFTR,G458V |
|
|
784 |
782,HEXA,L451V |
|
|
785 |
783,F8,K185T |
|
|
786 |
784,FOXL2,I84S |
|
|
787 |
785,JAK2,V617F |
|
|
788 |
786,OCA2,W679C |
|
|
789 |
787,FBXW7,R465C |
|
|
790 |
788,SCN5A,Y1794C |
|
|
791 |
789,COCH,I109N |
|
|
792 |
790,TMC1,C515R |
|
|
793 |
791,GFER,R194H |
|
|
794 |
792,SLC26A2,G255E |
|
|
795 |
793,SOX10,S135T |
|
|
796 |
794,BRCA2,I1929V |
|
|
797 |
795,CASR,G143E |
|
|
798 |
796,ACAD8,H289Q |
|
|
799 |
797,HADH,P258L |
|
|
800 |
798,CHST3,L307P |
|
|
801 |
799,WAS,A56V |
|
|
802 |
800,CASP8,D302H |
|
|
803 |
801,GALK1,V32M |
|
|
804 |
802,INF2,S186P |
|
|
805 |
803,AR,L57Q |
|
|
806 |
804,SLURP1,C77R |
|
|
807 |
805,AVP,G48V |
|
|
808 |
806,GBA,R392G |
|
|
809 |
807,ABCD1,R617C |
|
|
810 |
808,SCN9A,I62V |
|
|
811 |
809,KCNQ2,K554N |
|
|
812 |
810,LDLR,W87G |
|
|
813 |
811,CPOX,R447C |
|
|
814 |
812,TSHR,D619G |
|
|
815 |
813,PLP1,T182P |
|
|
816 |
814,FKRP,S221R |
|
|
817 |
815,ASS1,S180N |
|
|
818 |
816,CDH23,D2045N |
|
|
819 |
817,BEST1,V317M |
|
|
820 |
818,NPSR1,N107I |
|
|
821 |
819,PGK1,D268N |
|
|
822 |
820,SRY,R133W |
|
|
823 |
821,EP300,Truncating Mutations |
|
|
824 |
822,PMS2,Deletion |
|
|
825 |
823,LHX4,A210P |
|
|
826 |
824,GLB1,Q408P |
|
|
827 |
825,MLC1,N141S |
|
|
828 |
826,GAA,R725W |
|
|
829 |
827,ACSL4,P375L |
|
|
830 |
828,SCNN1B,P616R |
|
|
831 |
829,PLA2G6,V310E |
|
|
832 |
830,CACNA1A,R583Q |
|
|
833 |
831,ARSA,R372W |
|
|
834 |
832,GLDC,R739H |
|
|
835 |
833,CFTR,T1220I |
|
|
836 |
834,KIF21A,I1010T |
|
|
837 |
835,UBR1,H136R |
|
|
838 |
836,MINPP1,Q270R |
|
|
839 |
837,PPOX,H20P |
|
|
840 |
838,F9,W453R |
|
|
841 |
839,TNFRSF13B,C104R |
|
|
842 |
840,CLDN16,G233D |
|
|
843 |
841,GBA,D482N |
|
|
844 |
842,ALDH3A2,P315S |
|
|
845 |
843,VWF,Y795C |
|
|
846 |
844,HEXA,R499H |
|
|
847 |
845,CNNM4,S200Y |
|
|
848 |
846,VANGL2,R353C |
|
|
849 |
847,TYR,P406L |
|
|
850 |
848,ALG12,R146Q |
|
|
851 |
849,KIF1B,S1481N |
|
|
852 |
850,USH2A,R4674G |
|
|
853 |
851,POMGNT1,R605P |
|
|
854 |
852,ROBO3,E319K |
|
|
855 |
853,PCDH15,G262D |
|
|
856 |
854,G6PD,G477R |
|
|
857 |
855,GLDC,R515S |
|
|
858 |
856,MYOC,G364V |
|
|
859 |
857,MFSD8,T294K |
|
|
860 |
858,RAX,R192Q |
|
|
861 |
859,MSH2,R621* |
|
|
862 |
860,IDUA,T366P |
|
|
863 |
861,SLC25A15,T32R |
|
|
864 |
862,OPN1SW,G79R |
|
|
865 |
863,GP1BA,L73F |
|
|
866 |
864,TWNK,A318T |
|
|
867 |
865,ATP7B,N1270S |
|
|
868 |
866,CDKN2A,G89D |
|
|
869 |
867,PLA2G4A,S111P |
|
|
870 |
868,ALAS2,D159N |
|
|
871 |
869,SCN4A,G1306E |
|
|
872 |
870,F10,R366C |
|
|
873 |
871,POMT2,G353S |
|
|
874 |
872,KCNQ1,A178P |
|
|
875 |
873,UBIAD1,N232S |
|
|
876 |
874,CTSA,M424T |
|
|
877 |
875,PIK3CA,N345K |
|
|
878 |
876,TREM2,D134G |
|
|
879 |
877,WT1,F451L |
|
|
880 |
878,WDR36,R529Q |
|
|
881 |
879,DNM1L,A395D |
|
|
882 |
880,UROD,M165R |
|
|
883 |
881,MATN3,A219D |
|
|
884 |
882,ATRX,N1860S |
|
|
885 |
883,UGT1A1,L175Q |
|
|
886 |
884,PRODH,Q521E |
|
|
887 |
885,ABCA4,L1971R |
|
|
888 |
886,SUMF1,R345C |
|
|
889 |
887,GCNT2,G348E |
|
|
890 |
888,ABCA1,D1099Y |
|
|
891 |
889,KCNQ2,S247W |
|
|
892 |
890,G6PD,S218F |
|
|
893 |
891,NEU1,W240R |
|
|
894 |
892,TRPS1,A932V |
|
|
895 |
893,TWNK,L381P |
|
|
896 |
894,CLCN7,R767W |
|
|
897 |
895,ISCU,G50E |
|
|
898 |
896,LPL,G169E |
|
|
899 |
897,CYP1B1,G365W |
|
|
900 |
898,SERPINA7,P383L |
|
|
901 |
899,DPYD,C29R |
|
|
902 |
900,F8,P2172Q |
|
|
903 |
901,SERPINA7,D191N |
|
|
904 |
902,SMN1,A2G |
|
|
905 |
903,ADAMTS13,H96D |
|
|
906 |
904,APOC2,K77Q |
|
|
907 |
905,CHST14,C289S |
|
|
908 |
906,LDLR,G549D |
|
|
909 |
907,SCN5A,D1594H |
|
|
910 |
908,TAB2,P208S |
|
|
911 |
909,FTO,R316Q |
|
|
912 |
910,BSND,I12T |
|
|
913 |
911,MYOT,S39F |
|
|
914 |
912,IRF6,R6C |
|
|
915 |
913,EFHC1,P77T |
|
|
916 |
914,SPTLC1,C133W |
|
|
917 |
915,BRCA2,N2829R |
|
|
918 |
916,SRD5A2,E197D |
|
|
919 |
917,CYP21A2,P31L |
|
|
920 |
918,CTSA,Q67R |
|
|
921 |
919,VDR,R50Q |
|
|
922 |
920,KRT9,N161K |
|
|
923 |
921,ADA,P274L |
|
|
924 |
922,SPG7,S692T |
|
|
925 |
923,SRY,K106I |
|
|
926 |
924,UMOD,C217R |
|
|
927 |
925,BBS7,H323R |
|
|
928 |
926,BRCA2,G1771D |
|
|
929 |
927,CANT1,P299L |
|
|
930 |
928,SCN9A,T1464I |
|
|
931 |
929,SLC22A5,R399Q |
|
|
932 |
930,ERBB2,A775_G776insYVMA |
|
|
933 |
931,ZIC3,W255G |
|
|
934 |
932,SGCD,E262K |
|
|
935 |
933,POMT1,Q590H |
|
|
936 |
934,G6PD,A391V |
|
|
937 |
935,WDR36,N355S |
|
|
938 |
936,OCRL,H524Q |
|
|
939 |
937,QDPR,Y150C |
|
|
940 |
938,ALG10,V447I |
|
|
941 |
939,LMX1B,R223Q |
|
|
942 |
940,TPO,R648Q |
|
|
943 |
941,CYP27A1,R395C |
|
|
944 |
942,RNASET2,C184R |
|
|
945 |
943,PRKAG2,E506Q |
|
|
946 |
944,TARDBP,A315T |
|
|
947 |
945,AGTR2,I337V |
|
|
948 |
946,SCN5A,R1825H |
|
|
949 |
947,NEU1,P80L |
|
|
950 |
948,DCTN1,R1101K |
|
|
951 |
949,SIX3,R257P |
|
|
952 |
950,KCNQ1,V307L |
|
|
953 |
951,GLA,S65T |
|
|
954 |
952,GALNT3,T272K |
|
|
955 |
953,BRCA2,D191G |
|
|
956 |
954,GJA8,I247M |
|
|
957 |
955,G6PD,V424L |
|
|
958 |
956,IKBKG,C417F |
|
|
959 |
957,HPRT1,D194E |
|
|
960 |
958,VWF,R1306W |
|
|
961 |
959,TP53,H193R |
|
|
962 |
960,COMP,N523K |
|
|
963 |
961,PDGFRA,D842_I843delinsIM |
|
|
964 |
962,IDUA,L346R |
|
|
965 |
963,CC2D2A,T1116M |
|
|
966 |
964,LRP5,L145F |
|
|
967 |
965,ATP13A2,G504R |
|
|
968 |
966,NLRP7,R693Q |
|
|
969 |
967,POMT2,W748S |
|
|
970 |
968,GLA,A156T |
|
|
971 |
969,MGAT2,H262R |
|
|
972 |
970,UPB1,A85E |
|
|
973 |
971,MTM1,Y397C |
|
|
974 |
972,NDP,S101F |
|
|
975 |
973,PAH,F39L |
|
|
976 |
974,KRT85,R78H |
|
|
977 |
975,YAP1,YAP1-TFE3 Fusion |
|
|
978 |
976,OAT,A226V |
|
|
979 |
977,EGFR,C797Y |
|
|
980 |
978,BBS7,T211I |
|
|
981 |
979,RPGRIP1L,A229T |
|
|
982 |
980,CACNA1A,R1346Q |
|
|
983 |
981,CHST6,Y110C |
|
|
984 |
982,CASR,E127A |
|
|
985 |
983,MEFV,M680I |
|
|
986 |
984,F11,S594R |
|
|
987 |
985,F8,L2185S |
|
|
988 |
986,TRAPPC2,F83S |
|
|
989 |
987,PRKAG3,R225W |
|
|
990 |
988,FGFR1,V561M |
|
|
991 |
989,CHST14,R213P |
|
|
992 |
990,NOTCH3,C428S |
|
|
993 |
991,ATP7A,P1386S |
|
|
994 |
992,ALDH3A2,K266N |
|
|
995 |
993,ACTN4,K255E |
|
|
996 |
994,TULP1,F382S |
|
|
997 |
995,SLC6A8,C337W |
|
|
998 |
996,PTEN,T319A |
|
|
999 |
997,TBX19,M86R |
|
|
1000 |
998,SLC26A4,E29Q |
|
|
1001 |
999,DCTN1,R651W |
|
|
1002 |
1000,PSTPIP1,E250Q |
|
|
1003 |
1001,HLCS,R508W |
|
|
1004 |
1002,APOC2,E60K |
|
|
1005 |
1003,UBIAD1,T175I |
|
|
1006 |
1004,DSG4,S192P |
|
|
1007 |
1005,RFX6,S217P |
|
|
1008 |
1006,EGFR,A289V |
|
|
1009 |
1007,TSHR,D633H |
|
|
1010 |
1008,F8,K108T |
|
|
1011 |
1009,NCF2,A128V |
|
|
1012 |
1010,CYP11B1,R374Q |
|
|
1013 |
1011,PPARG,C162S |
|
|
1014 |
1012,SMAD4,E330A |
|
|
1015 |
1013,ACADS,R383C |
|
|
1016 |
1014,PNPLA6,M1012V |
|
|
1017 |
1015,GLA,M296V |
|
|
1018 |
1016,TUBA1A,S419L |
|
|
1019 |
1017,SERPINA7,L247P |
|
|
1020 |
1018,HAL,R206T |
|
|
1021 |
1019,HMBS,G111R |
|
|
1022 |
1020,NR3C2,E972G |
|
|
1023 |
1021,F9,D410H |
|
|
1024 |
1022,KIF1B,P1217S |
|
|
1025 |
1023,CYP11B1,T318M |
|
|
1026 |
1024,GHR,I171T |
|
|
1027 |
1025,ABCA4,R212C |
|
|
1028 |
1026,COL4A5,R1677Q |
|
|
1029 |
1027,WFS1,L829P |
|
|
1030 |
1028,BBS9,G141R |
|
|
1031 |
1029,EP300,P2221Q |
|
|
1032 |
1030,TSHR,F631L |
|
|
1033 |
1031,CYP27A1,G145E |
|
|
1034 |
1032,SLC7A9,I44T |
|
|
1035 |
1033,DYM,E87K |
|
|
1036 |
1034,IDH1,G97D |
|
|
1037 |
1035,PDGFRA,FIP1L1-PDGFRA Fusion |
|
|
1038 |
1036,GDAP1,C240Y |
|
|
1039 |
1037,LPL,S199C |
|
|
1040 |
1038,CACNA1F,I756T |
|
|
1041 |
1039,UROD,L195F |
|
|
1042 |
1040,NOD2,L469F |
|
|
1043 |
1041,PTEN,R234Q |
|
|
1044 |
1042,GHR,V162I |
|
|
1045 |
1043,BEST1,G299E |
|
|
1046 |
1044,GJB1,W133R |
|
|
1047 |
1045,CHD7,R2319S |
|
|
1048 |
1046,CDAN1,P1130L |
|
|
1049 |
1047,TLR5,N592S |
|
|
1050 |
1048,SIX3,L226V |
|
|
1051 |
1049,ATRX,D2035V |
|
|
1052 |
1050,NDP,C110G |
|
|
1053 |
1051,KIF21A,M356T |
|
|
1054 |
1052,NDUFS7,V122M |
|
|
1055 |
1053,HSPB1,R140G |
|
|
1056 |
1054,CTSK,L309P |
|
|
1057 |
1055,NLRP3,E627G |
|
|
1058 |
1056,NLRP7,R693P |
|
|
1059 |
1057,AVP,G96V |
|
|
1060 |
1058,FGF23,R179W |
|
|
1061 |
1059,COCH,W117R |
|
|
1062 |
1060,SLC9A3R1,L110V |
|
|
1063 |
1061,RP1,T373I |
|
|
1064 |
1062,ADAMTSL2,G811R |
|
|
1065 |
1063,HPRT1,V130D |
|
|
1066 |
1064,SRY,A113T |
|
|
1067 |
1065,NPC1,V378A |
|
|
1068 |
1066,NEUROD1,R111L |
|
|
1069 |
1067,HCN4,D553N |
|
|
1070 |
1068,GLB1,Y591N |
|
|
1071 |
1069,MATN3,V194D |
|
|
1072 |
1070,HMBS,A252V |
|
|
1073 |
1071,NHLRC1,I198N |
|
|
1074 |
1072,PTCH1,V908G |
|
|
1075 |
1073,ARSA,T288P |
|
|
1076 |
1074,MCCC1,I460M |
|
|
1077 |
1075,CYP17A1,Y201N |
|
|
1078 |
1076,FLNA,E254K |
|
|
1079 |
1077,HEXA,R504H |
|
|
1080 |
1078,NTRK1,P659L |
|
|
1081 |
1079,COX4I2,E138K |
|
|
1082 |
1080,OPTN,R545Q |
|
|
1083 |
1081,L2HGDH,H98R |
|
|
1084 |
1082,UROS,A66V |
|
|
1085 |
1083,SPTLC1,S331F |
|
|
1086 |
1084,CFTR,Q1352H |
|
|
1087 |
1085,KLF1,H299Y |
|
|
1088 |
1086,KCNJ2,P186L |
|
|
1089 |
1087,F8,F312S |
|
|
1090 |
1088,DHCR7,T93M |
|
|
1091 |
1089,CPOX,G279R |
|
|
1092 |
1090,IFNAR2,F8S |
|
|
1093 |
1091,ABCC8,F132L |
|
|
1094 |
1092,F9,E291V |
|
|
1095 |
1093,CFTR,S1251N |
|
|
1096 |
1094,FECH,M267I |
|
|
1097 |
1095,AVPR2,R137C |
|
|
1098 |
1096,SLC22A18,S233F |
|
|
1099 |
1097,CFTR,R1283M |
|
|
1100 |
1098,LDB3,I345M |
|
|
1101 |
1099,CPT2,F448L |
|
|
1102 |
1100,PAH,A47V |
|
|
1103 |
1101,PAX3,Y90H |
|
|
1104 |
1102,NKX2-5,R25C |
|
|
1105 |
1103,IDS,K135R |
|
|
1106 |
1104,CHST6,L276P |
|
|
1107 |
1105,NEUROG3,R107S |
|
|
1108 |
1106,G6PC,R295C |
|
|
1109 |
1107,SC5D,Y46S |
|
|
1110 |
1108,TP63,C345R |
|
|
1111 |
1109,PRPS1,L129I |
|
|
1112 |
1110,TMEM67,G740S |
|
|
1113 |
1111,TGIF1,T280A |
|
|
1114 |
1112,ARG1,G138V |
|
|
1115 |
1113,RUNX2,S191N |
|
|
1116 |
1114,SPOP,E47K |
|
|
1117 |
1115,PPARG,Q286P |
|
|
1118 |
1116,IKBKG,C417R |
|
|
1119 |
1117,LGI1,C46R |
|
|
1120 |
1118,BCL2L11,Single Nucleotide Polymorphism |
|
|
1121 |
1119,GBA,G416S |
|
|
1122 |
1120,SNTA1,A390V |
|
|
1123 |
1121,SMAD2,S467P |
|
|
1124 |
1122,FTCD,R299P |
|
|
1125 |
1123,TLR4,T399I |
|
|
1126 |
1124,PPT1,C45Y |
|
|
1127 |
1125,CST3,L94Q |
|
|
1128 |
1126,ATP6V0A4,P524L |
|
|
1129 |
1127,ITGA2B,L214P |
|
|
1130 |
1128,SBDS,N8K |
|
|
1131 |
1129,STK11,I177N |
|
|
1132 |
1130,MUTYH,P405S |
|
|
1133 |
1131,CASR,Q681H |
|
|
1134 |
1132,NPC1,Q928P |
|
|
1135 |
1133,TBX20,I152M |
|
|
1136 |
1134,KCNQ2,A306T |
|
|
1137 |
1135,F9,V419E |
|
|
1138 |
1136,NOG,P35R |
|
|
1139 |
1137,BEST1,Y227N |
|
|
1140 |
1138,BRCA1,L1664P |
|
|
1141 |
1139,PKLR,R486W |
|
|
1142 |
1140,RGR,S66R |
|
|
1143 |
1141,AR,Q799E |
|
|
1144 |
1142,IHH,D100N |
|
|
1145 |
1143,CHST3,T141M |
|
|
1146 |
1144,HPRT1,M143K |
|
|
1147 |
1145,PROC,Q226H |
|
|
1148 |
1146,CPS1,G982D |
|
|
1149 |
1147,ABCA4,V931M |
|
|
1150 |
1148,PRDM1,Truncating Mutations |
|
|
1151 |
1149,HR,D1012N |
|
|
1152 |
1150,PANK2,T234A |
|
|
1153 |
1151,PRSS1,N54S |
|
|
1154 |
1152,NYX,R94P |
|
|
1155 |
1153,BHLHE41,P384R |
|
|
1156 |
1154,CLCN5,G576E |
|
|
1157 |
1155,VDR,G46D |
|
|
1158 |
1156,ADAMTS13,C1024G |
|
|
1159 |
1157,NDP,L13R |
|
|
1160 |
1158,COCH,C542Y |
|
|
1161 |
1159,TBXAS1,R413Q |
|
|
1162 |
1160,HEXA,W420C |
|
|
1163 |
1161,GALT,R333G |
|
|
1164 |
1162,RAD50,Truncating Mutations |
|
|
1165 |
1163,ABCA4,G1961E |
|
|
1166 |
1164,CLDN14,V85D |
|
|
1167 |
1165,AIRE,V80G |
|
|
1168 |
1166,ABCC6,T1130M |
|
|
1169 |
1167,GLA,G361R |
|
|
1170 |
1168,APOC2,K41T |
|
|
1171 |
1169,SALL4,H888R |
|
|
1172 |
1170,IHH,D100E |
|
|
1173 |
1171,HSD17B3,S232L |
|
|
1174 |
1172,L2HGDH,G55D |
|
|
1175 |
1173,ABCC6,R1138Q |
|
|
1176 |
1174,PAX3,P50L |
|
|
1177 |
1175,ABCD1,S515F |
|
|
1178 |
1176,DBT,G384S |
|
|
1179 |
1177,NDP,C96W |
|
|
1180 |
1178,MVK,N301T |
|
|
1181 |
1179,CACNA1A,S218L |
|
|
1182 |
1180,ADA,K80R |
|
|
1183 |
1181,VWF,S1285F |
|
|
1184 |
1182,SCN4A,L1433R |
|
|
1185 |
1183,HAL,P259L |
|
|
1186 |
1184,SOX9,Deletion |
|
|
1187 |
1185,EBP,R147H |
|
|
1188 |
1186,SETX,R332W |
|
|
1189 |
1187,PAH,P244L |
|
|
1190 |
1188,MYO1A,V306M |
|
|
1191 |
1189,CBL,H398Q |
|
|
1192 |
1190,ZIC3,T323M |
|
|
1193 |
1191,PROC,R220Q |
|
|
1194 |
1192,TMPRSS6,D521N |
|
|
1195 |
1193,TYR,C55Y |
|
|
1196 |
1194,PROK2,G32R |
|
|
1197 |
1195,TCIRG1,G405R |
|
|
1198 |
1196,VKORC1,V29L |
|
|
1199 |
1197,ABCC6,R1314W |
|
|
1200 |
1198,COX10,D336G |
|
|
1201 |
1199,PAH,R408W |
|
|
1202 |
1200,ASPA,C152R |
|
|
1203 |
1201,CHST3,L286P |
|
|
1204 |
1202,SETX,T3I |
|
|
1205 |
1203,CFTR,R117H |
|
|
1206 |
1204,KCNQ2,R207W |
|
|
1207 |
1205,PYGM,W798R |
|
|
1208 |
1206,ITGB2,D128N |
|
|
1209 |
1207,POLH,K589T |
|
|
1210 |
1208,GNPTAB,F374L |
|
|
1211 |
1209,USH2A,C419F |
|
|
1212 |
1210,NLRP3,R260W |
|
|
1213 |
1211,VCL,L277M |
|
|
1214 |
1212,NTRK1,S677N |
|
|
1215 |
1213,MECP2,R106W |
|
|
1216 |
1214,ARSA,E384K |
|
|
1217 |
1215,CASR,F788C |
|
|
1218 |
1216,SCN4A,N1297K |
|
|
1219 |
1217,GBA,G517S |
|
|
1220 |
1218,GBA,L410V |
|
|
1221 |
1219,ITM2B,null267R |
|
|
1222 |
1220,IDS,G489A |
|
|
1223 |
1221,ABCC6,R1138W |
|
|
1224 |
1222,STXBP2,L209P |
|
|
1225 |
1223,FAH,G337S |
|
|
1226 |
1224,CPOX,K404E |
|
|
1227 |
1225,CLCN2,R235Q |
|
|
1228 |
1226,FKRP,R54W |
|
|
1229 |
1227,EGFR,Y727H |
|
|
1230 |
1228,LCAT,T147I |
|
|
1231 |
1229,SCN5A,A735V |
|
|
1232 |
1230,VANGL1,V239I |
|
|
1233 |
1231,DHCR7,R352W |
|
|
1234 |
1232,WASHC5,L619F |
|
|
1235 |
1233,CNGA3,P163L |
|
|
1236 |
1234,CACNA1H,V831M |
|
|
1237 |
1235,MBTPS2,R429H |
|
|
1238 |
1236,FBLN5,A363T |
|
|
1239 |
1237,ASPA,R71H |
|
|
1240 |
1238,FKRP,V300A |
|
|
1241 |
1239,ALOXE3,R528S |
|
|
1242 |
1240,MECP2,F155S |
|
|
1243 |
1241,GATA4,Q316E |
|
|
1244 |
1242,CD40LG,A235P |
|
|
1245 |
1243,ARSA,R372Q |
|
|
1246 |
1244,OTOF,P1220R |
|
|
1247 |
1245,OCRL,Y479C |
|
|
1248 |
1246,CASR,F806S |
|
|
1249 |
1247,TRPV4,R594H |
|
|
1250 |
1248,CEP152,Q265P |
|
|
1251 |
1249,DNM2,S619L |
|
|
1252 |
1250,CHIT1,E74K |
|
|
1253 |
1251,DYSF,G299W |
|
|
1254 |
1252,HEXB,P504S |
|
|
1255 |
1253,TSC2,R505Q |
|
|
1256 |
1254,FLNA,C210F |
|
|
1257 |
1255,F9,G160A |
|
|
1258 |
1256,L1CAM,G452R |
|
|
1259 |
1257,CTNS,V42I |
|
|
1260 |
1258,MYOC,K423E |
|
|
1261 |
1259,UROS,E81D |
|
|
1262 |
1260,DMD,E2910V |
|
|
1263 |
1261,FKRP,C318Y |
|
|
1264 |
1262,KCNQ1,G345E |
|
|
1265 |
1263,ESR1,Y537N |
|
|
1266 |
1264,LDLR,D227E |
|
|
1267 |
1265,ARSA,P169R |
|
|
1268 |
1266,F8,G130R |
|
|
1269 |
1267,CAV3,V14L |
|
|
1270 |
1268,FLNB,F161C |
|
|
1271 |
1269,SI,L341P |
|
|
1272 |
1270,MATN3,A128P |
|
|
1273 |
1271,TBXAS1,G482W |
|
|
1274 |
1272,PRPS1,L152P |
|
|
1275 |
1273,LATS1,Deletion |
|
|
1276 |
1274,PEPD,E412K |
|
|
1277 |
1275,LRTOMT,R81Q |
|
|
1278 |
1276,GUSB,A354V |
|
|
1279 |
1277,GATA1,V205M |
|
|
1280 |
1278,LDLR,P685L |
|
|
1281 |
1279,AVPR2,G201D |
|
|
1282 |
1280,MSH6,S144I |
|
|
1283 |
1281,SCN5A,E1053K |
|
|
1284 |
1282,TIRAP,S180L |
|
|
1285 |
1283,ARSA,L137P |
|
|
1286 |
1284,CYB5R3,L149P |
|
|
1287 |
1285,F9,A233T |
|
|
1288 |
1286,KIF5A,A361V |
|
|
1289 |
1287,NAGLU,F314L |
|
|
1290 |
1288,HEXA,R247W |
|
|
1291 |
1289,SMARCB1,E31V |
|
|
1292 |
1290,TP53,S121Y |
|
|
1293 |
1291,KIT,V559I |
|
|
1294 |
1292,HPRT1,P176L |
|
|
1295 |
1293,F9,R226W |
|
|
1296 |
1294,G6PD,R489P |
|
|
1297 |
1295,KCNQ4,G285S |
|
|
1298 |
1296,ALG9,Y287C |
|
|
1299 |
1297,TREM2,V126G |
|
|
1300 |
1298,RS1,G109R |
|
|
1301 |
1299,CYBA,P156Q |
|
|
1302 |
1300,PMP22,W28R |
|
|
1303 |
1301,GRXCR1,R138C |
|
|
1304 |
1302,CBS,S466L |
|
|
1305 |
1303,LPL,R270H |
|
|
1306 |
1304,PDX1,E178K |
|
|
1307 |
1305,SCN9A,F1449V |
|
|
1308 |
1306,F8,I405S |
|
|
1309 |
1307,SART3,V591M |
|
|
1310 |
1308,CFTR,S549I |
|
|
1311 |
1309,LDLR,D175N |
|
|
1312 |
1310,MAT1A,R264H |
|
|
1313 |
1311,PAH,I65T |
|
|
1314 |
1312,JAK2,L551P |
|
|
1315 |
1313,CASR,R227L |
|
|
1316 |
1314,BRCA2,N2048I |
|
|
1317 |
1315,AMELX,P70T |
|
|
1318 |
1316,CHMP2B,D148Y |
|
|
1319 |
1317,PMM2,D223E |
|
|
1320 |
1318,SRY,M64I |
|
|
1321 |
1319,SETX,P2213L |
|
|
1322 |
1320,DNMT3B,D817G |
|
|
1323 |
1321,PHEX,L555P |
|
|
1324 |
1322,TYR,A206T |
|
|
1325 |
1323,NT5C3A,D137V |
|
|
1326 |
1324,RAPSN,F139S |
|
|
1327 |
1325,AGXT,F152I |
|
|
1328 |
1326,FKRP,L276I |
|
|
1329 |
1327,PGK1,S320N |
|
|
1330 |
1328,ADSL,D422Y |
|
|
1331 |
1329,KCNE3,R83H |
|
|
1332 |
1330,ACADVL,P65L |
|
|
1333 |
1331,FHL1,W122S |
|
|
1334 |
1332,NR3C2,Q776R |
|
|
1335 |
1333,SLC4A11,L827P |
|
|
1336 |
1334,FLNB,S235P |
|
|
1337 |
1335,UPK3A,P273L |
|
|
1338 |
1336,CFTR,I556V |
|
|
1339 |
1337,MLC1,S280L |
|
|
1340 |
1338,TUBB2B,F265L |
|
|
1341 |
1339,MYOC,C245Y |
|
|
1342 |
1340,F9,A397P |
|
|
1343 |
1341,ASL,V178M |
|
|
1344 |
1342,PC,R451C |
|
|
1345 |
1343,BBS10,R34P |
|
|
1346 |
1344,F8,R1960L |
|
|
1347 |
1345,CFTR,E217G |
|
|
1348 |
1346,PCDH19,N557K |
|
|
1349 |
1347,AICDA,R24W |
|
|
1350 |
1348,IHH,T154I |
|
|
1351 |
1349,PCSK9,F216L |
|
|
1352 |
1350,PAH,R158Q |
|
|
1353 |
1351,RAPSN,N88K |
|
|
1354 |
1352,PLP1,S170F |
|
|
1355 |
1353,NSD1,C2202Y |
|
|
1356 |
1354,F8,L327P |
|
|
1357 |
1355,ACAT1,A333P |
|
|
1358 |
1356,BTD,F403V |
|
|
1359 |
1357,BMPR1B,I200K |
|
|
1360 |
1358,BUB1B,L1012P |
|
|
1361 |
1359,ARX,L343Q |
|
|
1362 |
1360,ATP7B,M645R |
|
|
1363 |
1361,TRPC6,S270T |
|
|
1364 |
1362,MECP2,G428S |
|
|
1365 |
1363,MOCS1,R319Q |
|
|
1366 |
1364,SMAD2,Truncating Mutations |
|
|
1367 |
1365,NDUFV2,V29A |
|
|
1368 |
1366,ZDHHC9,R148W |
|
|
1369 |
1367,IQSEC2,R359C |
|
|
1370 |
1368,PIK3CB,Amplification |
|
|
1371 |
1369,TMPRSS3,P404L |
|
|
1372 |
1370,TYR,C89R |
|
|
1373 |
1371,CFTR,G1249E |
|
|
1374 |
1372,GSS,R283C |
|
|
1375 |
1373,VPS13B,G2645D |
|
|
1376 |
1374,ALOX12B,L426P |
|
|
1377 |
1375,ACADM,S245L |
|
|
1378 |
1376,F8,Y1699F |
|
|
1379 |
1377,SHH,A226T |
|
|
1380 |
1378,SLC45A2,A486V |
|
|
1381 |
1379,BRCA1,K1110del |
|
|
1382 |
1380,PMM2,L32R |
|
|
1383 |
1381,COQ2,Y297C |
|
|
1384 |
1382,SQSTM1,P392L |
|
|
1385 |
1383,ZMPSTE24,P248L |
|
|
1386 |
1384,KCNQ1,G269D |
|
|
1387 |
1385,ATP7B,I1148T |
|
|
1388 |
1386,CYB5R3,C204Y |
|
|
1389 |
1387,GALNT3,C574G |
|
|
1390 |
1388,UROS,G225S |
|
|
1391 |
1389,PMM2,D188G |
|
|
1392 |
1390,RUNX2,T200A |
|
|
1393 |
1391,MYH14,S120L |
|
|
1394 |
1392,PMP22,H12Q |
|
|
1395 |
1393,NKX2-1,R243S |
|
|
1396 |
1394,NLRP7,R693W |
|
|
1397 |
1395,ABL1,F359V |
|
|
1398 |
1396,G6PD,R417C |
|
|
1399 |
1397,PLP1,V219F |
|
|
1400 |
1398,DBT,F276C |
|
|
1401 |
1399,DHCR7,V326L |
|
|
1402 |
1400,HMBS,E223K |
|
|
1403 |
1401,APCDD1,L9R |
|
|
1404 |
1402,ERCC2,D609G |
|
|
1405 |
1403,TNFRSF13B,A181E |
|
|
1406 |
1404,MFSD8,G429D |
|
|
1407 |
1405,PNKD,A7V |
|
|
1408 |
1406,RPS19,R62W |
|
|
1409 |
1407,DMD,A168D |
|
|
1410 |
1408,ABCA1,S1506L |
|
|
1411 |
1409,DNMT3B,V746G |
|
|
1412 |
1410,CFTR,Y913C |
|
|
1413 |
1411,GSS,D219G |
|
|
1414 |
1412,F8,P165S |
|
|
1415 |
1413,PLP1,T156I |
|
|
1416 |
1414,SLC5A5,G395R |
|
|
1417 |
1415,SLC19A2,P51L |
|
|
1418 |
1416,PIGV,H385P |
|
|
1419 |
1417,IQSEC2,R758Q |
|
|
1420 |
1418,CHST6,D203E |
|
|
1421 |
1419,CTSC,W429C |
|
|
1422 |
1420,F8,A723T |
|
|
1423 |
1421,DLAT,F576L |
|
|
1424 |
1422,NLRP1,L155H |
|
|
1425 |
1423,SLC4A11,M840V |
|
|
1426 |
1424,ACADM,Y67H |
|
|
1427 |
1425,PCCB,Y435C |
|
|
1428 |
1426,SERPING1,A465V |
|
|
1429 |
1427,SMPD1,L304P |
|
|
1430 |
1428,SH2D1A,null129R |
|
|
1431 |
1429,KCNJ18,K366R |
|
|
1432 |
1430,PRKRA,P222L |
|
|
1433 |
1431,SOX9,A76E |
|
|
1434 |
1432,KCNJ10,G77R |
|
|
1435 |
1433,HMBS,R173Q |
|
|
1436 |
1434,EIF2B3,I346T |
|
|
1437 |
1435,CTH,S403I |
|
|
1438 |
1436,BANK1,R61H |
|
|
1439 |
1437,KIF1B,E646V |
|
|
1440 |
1438,OTC,R26Q |
|
|
1441 |
1439,HMGCS2,V54M |
|
|
1442 |
1440,KIF1B,T827I |
|
|
1443 |
1441,STK11,Y49D |
|
|
1444 |
1442,VPS13A,I90K |
|
|
1445 |
1443,ARSA,S211Y |
|
|
1446 |
1444,GAMT,W20S |
|
|
1447 |
1445,CDKN2A,A68T |
|
|
1448 |
1446,ATRX,P190A |
|
|
1449 |
1447,CFTR,Q359K |
|
|
1450 |
1448,EYA1,R547G |
|
|
1451 |
1449,SLC39A13,G74D |
|
|
1452 |
1450,ABCA1,C1477R |
|
|
1453 |
1451,MLC1,S93L |
|
|
1454 |
1452,TSHR,R109Q |
|
|
1455 |
1453,SRD5A2,G183S |
|
|
1456 |
1454,FLVCR2,L398V |
|
|
1457 |
1455,MPDU1,L74S |
|
|
1458 |
1456,GJA8,R23T |
|
|
1459 |
1457,G6PC3,R253H |
|
|
1460 |
1458,GNE,D256N |
|
|
1461 |
1459,TUBA1A,R422C |
|
|
1462 |
1460,SUCLA2,G118R |
|
|
1463 |
1461,CYP27B1,R335P |
|
|
1464 |
1462,MAP2K1,S218D |
|
|
1465 |
1463,CYBB,H209Y |
|
|
1466 |
1464,OPA1,Y582C |
|
|
1467 |
1465,BMPR2,G182D |
|
|
1468 |
1466,FKRP,null496R |
|
|
1469 |
1467,SMN1,G279V |
|
|
1470 |
1468,OTC,R40C |
|
|
1471 |
1469,CYBB,C244S |
|
|
1472 |
1470,VHL,W88S |
|
|
1473 |
1471,BMPR2,C123S |
|
|
1474 |
1472,CLN3,E295K |
|
|
1475 |
1473,BBS5,T183A |
|
|
1476 |
1474,UBIAD1,D236E |
|
|
1477 |
1475,CYP1B1,R469W |
|
|
1478 |
1476,HADHA,I305N |
|
|
1479 |
1477,OTC,L304F |
|
|
1480 |
1478,FANCC,L554P |
|
|
1481 |
1479,SAR1B,G185V |
|
|
1482 |
1480,RPGRIP1,A547S |
|
|
1483 |
1481,PROK2,R73C |
|
|
1484 |
1482,CDH23,T1209A |
|
|
1485 |
1483,SHOX,R168W |
|
|
1486 |
1484,NDUFA1,G8R |
|
|
1487 |
1485,UROS,T228M |
|
|
1488 |
1486,GAA,A237V |
|
|
1489 |
1487,EGLN1,R371H |
|
|
1490 |
1488,FBXO7,T22M |
|
|
1491 |
1489,TYR,D448N |
|
|
1492 |
1490,PDE6C,M455V |
|
|
1493 |
1491,GBA,F255V |
|
|
1494 |
1492,LDLR,C184Y |
|
|
1495 |
1493,NR0B1,L297P |
|
|
1496 |
1494,WFS1,T699M |
|
|
1497 |
1495,IDUA,R619G |
|
|
1498 |
1496,AKT1,E191A |
|
|
1499 |
1497,NPC2,V39M |
|
|
1500 |
1498,ACADVL,F458L |
|
|
1501 |
1499,TP53,I254T |
|
|
1502 |
1500,TSEN2,Y309C |
|
|
1503 |
1501,GLB1,G438E |
|
|
1504 |
1502,VDR,G33D |
|
|
1505 |
1503,SLC7A9,G105R |
|
|
1506 |
1504,XYLT1,A115S |
|
|
1507 |
1505,PDX1,Q59L |
|
|
1508 |
1506,ABCC8,N72S |
|
|
1509 |
1507,ALDOB,A150P |
|
|
1510 |
1508,ADGRG1,C346S |
|
|
1511 |
1509,PPARGC1B,A203P |
|
|
1512 |
1510,TMEM67,M252T |
|
|
1513 |
1511,SPEN,Truncating Mutations |
|
|
1514 |
1512,ALAS2,S568G |
|
|
1515 |
1513,OPN1SW,P264S |
|
|
1516 |
1514,NAGLU,R643C |
|
|
1517 |
1515,SLC16A2,L360W |
|
|
1518 |
1516,TP53,F338I |
|
|
1519 |
1517,CYP11B1,T319M |
|
|
1520 |
1518,IL2RG,L293Q |
|
|
1521 |
1519,EYA1,E363K |
|
|
1522 |
1520,TCIRG1,R444L |
|
|
1523 |
1521,TJP2,V48A |
|
|
1524 |
1522,GDF5,R438L |
|
|
1525 |
1523,EIF2B5,T182M |
|
|
1526 |
1524,BRAF,R509H |
|
|
1527 |
1525,MEF2A,N263S |
|
|
1528 |
1526,G6PC3,L185P |
|
|
1529 |
1527,LIG4,A3V |
|
|
1530 |
1528,ERBB3,V104L |
|
|
1531 |
1529,BRCA1,W1718S |
|
|
1532 |
1530,FXN,G130V |
|
|
1533 |
1531,ARMS2,A69S |
|
|
1534 |
1532,TMC1,D572H |
|
|
1535 |
1533,MATN3,R121W |
|
|
1536 |
1534,SLC52A3,F224L |
|
|
1537 |
1535,GBE1,R262C |
|
|
1538 |
1536,OAT,P241L |
|
|
1539 |
1537,OPN1LW,G338E |
|
|
1540 |
1538,PNPO,null262Q |
|
|
1541 |
1539,CRLF1,R81H |
|
|
1542 |
1540,PPOX,R59W |
|
|
1543 |
1541,FGF8,K100E |
|
|
1544 |
1542,GDF6,K424R |
|
|
1545 |
1543,MC2R,Y254C |
|
|
1546 |
1544,BUB1B,R550Q |
|
|
1547 |
1545,SLC22A12,G361V |
|
|
1548 |
1546,AR,G578R |
|
|
1549 |
1547,SPTLC1,G387A |
|
|
1550 |
1548,CYP17A1,R358Q |
|
|
1551 |
1549,RPGR,G275S |
|
|
1552 |
1550,DGUOK,R142K |
|
|
1553 |
1551,GLB1,R208C |
|
|
1554 |
1552,HMBS,A31T |
|
|
1555 |
1553,PGK1,D285V |
|
|
1556 |
1554,PRODH,A455S |
|
|
1557 |
1555,TNFRSF11A,R129C |
|
|
1558 |
1556,TGFBI,L509R |
|
|
1559 |
1557,ELF3,A312P |
|
|
1560 |
1558,PLP1,D57Y |
|
|
1561 |
1559,F7,C389G |
|
|
1562 |
1560,MET,D1228N |
|
|
1563 |
1561,MYO7A,M599I |
|
|
1564 |
1562,SCN4A,R675G |
|
|
1565 |
1563,TARDBP,G348C |
|
|
1566 |
1564,EDA,Y61H |
|
|
1567 |
1565,HOXA2,Q186K |
|
|
1568 |
1566,ADA,A329V |
|
|
1569 |
1567,CFTR,Y109C |
|
|
1570 |
1568,CNGB3,Y469D |
|
|
1571 |
1569,TMPRSS3,R216L |
|
|
1572 |
1570,PEX12,S320F |
|
|
1573 |
1571,CFTR,V470M |
|
|
1574 |
1572,ST14,G827R |
|
|
1575 |
1573,LDB3,K128M |
|
|
1576 |
1574,FLNB,G1691S |
|
|
1577 |
1575,NCF1,R42Q |
|
|
1578 |
1576,SMN2,G287R |
|
|
1579 |
1577,GDAP1,T157P |
|
|
1580 |
1578,G6PD,R484H |
|
|
1581 |
1579,CYBA,S118R |
|
|
1582 |
1580,AMELX,W4S |
|
|
1583 |
1581,L1CAM,C264Y |
|
|
1584 |
1582,ERBB4,H618P |
|
|
1585 |
1583,VCP,R155H |
|
|
1586 |
1584,KCNQ4,G296S |
|
|
1587 |
1585,AP3B1,L580R |
|
|
1588 |
1586,SLC40A1,G80V |
|
|
1589 |
1587,RPGR,G60V |
|
|
1590 |
1588,MFN2,T206I |
|
|
1591 |
1589,ABCC8,R1421C |
|
|
1592 |
1590,F5,R534Q |
|
|
1593 |
1591,EXT2,D260N |
|
|
1594 |
1592,PEX5,N526K |
|
|
1595 |
1593,L2HGDH,P302L |
|
|
1596 |
1594,COX10,T196K |
|
|
1597 |
1595,CHMP2B,Q206H |
|
|
1598 |
1596,SETX,N603D |
|
|
1599 |
1597,OCA2,R419Q |
|
|
1600 |
1598,ATP6V0A4,G820R |
|
|
1601 |
1599,STXBP1,V84D |
|
|
1602 |
1600,BTK,R525Q |
|
|
1603 |
1601,PMM2,D65Y |
|
|
1604 |
1602,SGSH,P128L |
|
|
1605 |
1603,SLC1A3,P290R |
|
|
1606 |
1604,AR,L678P |
|
|
1607 |
1605,COCH,P51S |
|
|
1608 |
1606,GRM6,E781K |
|
|
1609 |
1607,SCN5A,S1103Y |
|
|
1610 |
1608,MYOT,S95I |
|
|
1611 |
1609,SMO,C469Y |
|
|
1612 |
1610,WT1,R434H |
|
|
1613 |
1611,CYB5R3,G292D |
|
|
1614 |
1612,NSD1,C2183S |
|
|
1615 |
1613,CLN8,R204C |
|
|
1616 |
1614,GNE,V696M |
|
|
1617 |
1615,F8,Y2124C |
|
|
1618 |
1616,ACADS,R325W |
|
|
1619 |
1617,CYB5R3,D240G |
|
|
1620 |
1618,PDGFRA,Fusions |
|
|
1621 |
1619,ATRX,P1711S |
|
|
1622 |
1620,SIX1,R110W |
|
|
1623 |
1621,HEXB,A543T |
|
|
1624 |
1622,CYP27B1,T409I |
|
|
1625 |
1623,AURKB,Amplification |
|
|
1626 |
1624,PRKAG2,R531G |
|
|
1627 |
1625,PYGM,L396P |
|
|
1628 |
1626,HEXA,K197T |
|
|
1629 |
1627,ARL6,A89V |
|
|
1630 |
1628,BRAF,V600delinsYM |
|
|
1631 |
1629,TBX22,G118C |
|
|
1632 |
1630,TP53,R273K |
|
|
1633 |
1631,ABHD5,Q130P |
|
|
1634 |
1632,DPYS,R412M |
|
|
1635 |
1633,ADA,L107P |
|
|
1636 |
1634,F9,Q237L |
|
|
1637 |
1635,TINF2,R282S |
|
|
1638 |
1636,BMPR2,D485G |
|
|
1639 |
1637,ADSL,R426H |
|
|
1640 |
1638,NAGLU,R565W |
|
|
1641 |
1639,WAS,P58R |
|
|
1642 |
1640,CDH23,R1746Q |
|
|
1643 |
1641,OPTN,M98K |
|
|
1644 |
1642,TYR,R422Q |
|
|
1645 |
1643,HGSNAT,P283L |
|
|
1646 |
1644,TP63,L553F |
|
|
1647 |
1645,HSF4,A19D |
|
|
1648 |
1646,ASS1,G324S |
|
|
1649 |
1647,SUOX,R217Q |
|
|
1650 |
1648,PAH,L255S |
|
|
1651 |
1649,TET2,Truncating Mutations |
|
|
1652 |
1650,PAH,R413P |
|
|
1653 |
1651,G6PC,A124T |
|
|
1654 |
1652,BAP1,G178V |
|
|
1655 |
1653,TUBB3,D417H |
|
|
1656 |
1654,F8,R1715G |
|
|
1657 |
1655,CFTR,G1244V |
|
|
1658 |
1656,CPT1A,G709E |
|
|
1659 |
1657,AR,S866P |
|
|
1660 |
1658,SRY,S18N |
|
|
1661 |
1659,GLE1,I684T |
|
|
1662 |
1660,COQ8A,Y514C |
|
|
1663 |
1661,ADAMTS10,A25T |
|
|
1664 |
1662,FHL1,C153Y |
|
|
1665 |
1663,SLC26A4,F335L |
|
|
1666 |
1664,BCS1L,R155P |
|
|
1667 |
1665,BCS1L,R45C |
|
|
1668 |
1666,PKHD1,I3553T |
|
|
1669 |
1667,FBXO7,R378G |
|
|
1670 |
1668,PGK1,I47N |
|
|
1671 |
1669,GBA,P454R |
|
|
1672 |
1670,ATP7B,G1266R |
|
|
1673 |
1671,SLC26A2,R279W |
|
|
1674 |
1672,ATP7B,D765N |
|
|
1675 |
1673,ATP8B1,T456M |
|
|
1676 |
1674,COQ2,N228S |
|
|
1677 |
1675,F8,S554G |
|
|
1678 |
1676,KRT9,M157V |
|
|
1679 |
1677,CASR,R465Q |
|
|
1680 |
1678,KMT2D,T5464M |
|
|
1681 |
1679,SLC46A1,R113C |
|
|
1682 |
1680,EBP,L18P |
|
|
1683 |
1681,GLA,V269A |
|
|
1684 |
1682,CTSC,Y347C |
|
|
1685 |
1683,PTCH1,T728M |
|
|
1686 |
1684,SCN5A,A1924T |
|
|
1687 |
1685,CPOX,R328C |
|
|
1688 |
1686,FRMD7,L142R |
|
|
1689 |
1687,SDHD,D92Y |
|
|
1690 |
1688,DMD,K773E |
|
|
1691 |
1689,ELAC2,R781H |
|
|
1692 |
1690,CFTR,N1303H |
|
|
1693 |
1691,CYP17A1,F453S |
|
|
1694 |
1692,WFS1,P504L |
|
|
1695 |
1693,SLC12A3,R655H |
|
|
1696 |
1694,CASR,L616V |
|
|
1697 |
1695,XPNPEP3,G453C |
|
|
1698 |
1696,PAX3,S84F |
|
|
1699 |
1697,UNC13D,F857C |
|
|
1700 |
1698,PTEN,R335* |
|
|
1701 |
1699,PKLR,G37E |
|
|
1702 |
1700,KCNJ10,R297C |
|
|
1703 |
1701,F8,R1800H |
|
|
1704 |
1702,KCNJ1,N105K |
|
|
1705 |
1703,SHH,W117G |
|
|
1706 |
1704,MASP2,D120G |
|
|
1707 |
1705,ABCA12,G1651S |
|
|
1708 |
1706,TMEM216,R73H |
|
|
1709 |
1707,CAV3,N33K |
|
|
1710 |
1708,KIF21A,R954W |
|
|
1711 |
1709,TYR,S192Y |
|
|
1712 |
1710,IDUA,L490P |
|
|
1713 |
1711,MFN2,R364W |
|
|
1714 |
1712,GRIA3,G833R |
|
|
1715 |
1713,G6PD,G440D |
|
|
1716 |
1714,TYR,R403S |
|
|
1717 |
1715,RNF6,A242T |
|
|
1718 |
1716,IKBKG,E315A |
|
|
1719 |
1717,NSD1,H2143Q |
|
|
1720 |
1718,CNGA3,R410W |
|
|
1721 |
1719,MATN3,T303M |
|
|
1722 |
1720,RDH5,V177G |
|
|
1723 |
1721,BCKDHB,H206Y |
|
|
1724 |
1722,MET,V1220I |
|
|
1725 |
1723,IL2RG,I153N |
|
|
1726 |
1724,GBA,D448H |
|
|
1727 |
1725,PMP22,S22F |
|
|
1728 |
1726,MED12,N1007S |
|
|
1729 |
1727,TRPV4,R616Q |
|
|
1730 |
1728,LGI1,F318C |
|
|
1731 |
1729,TPP1,C365R |
|
|
1732 |
1730,GNPTAB,D407A |
|
|
1733 |
1731,MVK,P165L |
|
|
1734 |
1732,SERPINA7,A133P |
|
|
1735 |
1733,MXI1,E219A |
|
|
1736 |
1734,SCN4A,P1158S |
|
|
1737 |
1735,SERPINI1,H338R |
|
|
1738 |
1736,G6PD,P383S |
|
|
1739 |
1737,SCN4A,T704M |
|
|
1740 |
1738,NDUFS2,S413P |
|
|
1741 |
1739,FBN2,D1115H |
|
|
1742 |
1740,MFN2,L76P |
|
|
1743 |
1741,MAGT1,V311G |
|
|
1744 |
1742,PMM2,V231M |
|
|
1745 |
1743,FECH,N414K |
|
|
1746 |
1744,STAR,R188C |
|
|
1747 |
1745,ALG12,F142V |
|
|
1748 |
1746,CFI,H418L |
|
|
1749 |
1747,PMM2,V44A |
|
|
1750 |
1748,MYO6,C442Y |
|
|
1751 |
1749,MFN2,R94W |
|
|
1752 |
1750,ABCA1,N935H |
|
|
1753 |
1751,KCNJ5,G387R |
|
|
1754 |
1752,UMOD,C77Y |
|
|
1755 |
1753,EPAS1,M535V |
|
|
1756 |
1754,SLC4A11,R472K |
|
|
1757 |
1755,AVP,P7L |
|
|
1758 |
1756,F9,A436E |
|
|
1759 |
1757,AFG3L2,A694E |
|
|
1760 |
1758,GHR,R179C |
|
|
1761 |
1759,LDLR,L401H |
|
|
1762 |
1760,ATRX,L409S |
|
|
1763 |
1761,B2M,M1I |
|
|
1764 |
1762,KCNQ1,R555C |
|
|
1765 |
1763,GBA,R170L |
|
|
1766 |
1764,NF1,Y2171N |
|
|
1767 |
1765,TBXAS1,L83P |
|
|
1768 |
1766,PHF8,F279S |
|
|
1769 |
1767,CFTR,H1085R |
|
|
1770 |
1768,CACNA1A,D715E |
|
|
1771 |
1769,TYR,G47D |
|
|
1772 |
1770,ALG3,W71R |
|
|
1773 |
1771,BRCA2,L2510P |
|
|
1774 |
1772,PC,M743I |
|
|
1775 |
1773,UROD,G281V |
|
|
1776 |
1774,SLC26A2,Q454P |
|
|
1777 |
1775,RDH12,T155I |
|
|
1778 |
1776,GUCY2D,A52S |
|
|
1779 |
1777,SERPINA7,H351Y |
|
|
1780 |
1778,TRPS1,T914P |
|
|
1781 |
1779,WDPCP,L208F |
|
|
1782 |
1780,VDR,E329K |
|
|
1783 |
1781,RRM2B,E194K |
|
|
1784 |
1782,TYR,G446S |
|
|
1785 |
1783,HEXA,R504C |
|
|
1786 |
1784,HMBS,L177R |
|
|
1787 |
1785,FGF23,M96T |
|
|
1788 |
1786,HSD17B4,G16S |
|
|
1789 |
1787,EHMT1,C1073Y |
|
|
1790 |
1788,F12,R372P |
|
|
1791 |
1789,SHH,P424A |
|
|
1792 |
1790,UMOD,N128S |
|
|
1793 |
1791,PRKAG2,H383R |
|
|
1794 |
1792,TFAP2B,P73R |
|
|
1795 |
1793,LCAT,M317I |
|
|
1796 |
1794,AR,R609K |
|
|
1797 |
1795,SMN1,Q136E |
|
|
1798 |
1796,F8,S392L |
|
|
1799 |
1797,RRM2B,R121H |
|
|
1800 |
1798,F8,Y605S |
|
|
1801 |
1799,F8,V285G |
|
|
1802 |
1800,BRAF,G469R |
|
|
1803 |
1801,AR,A646D |
|
|
1804 |
1802,AGRP,A67T |
|
|
1805 |
1803,FLT3,V592G |
|
|
1806 |
1804,ADSL,P100A |
|
|
1807 |
1805,EDA,G224A |
|
|
1808 |
1806,GCKR,L446P |
|
|
1809 |
1807,BTD,T532M |
|
|
1810 |
1808,TBC1D24,F251L |
|
|
1811 |
1809,PAX3,R56L |
|
|
1812 |
1810,CHD7,L1257R |
|
|
1813 |
1811,POMGNT1,S550N |
|
|
1814 |
1812,DHCR24,N294T |
|
|
1815 |
1813,SRD5A2,R246W |
|
|
1816 |
1814,NDUFS8,P79L |
|
|
1817 |
1815,POMT1,A669T |
|
|
1818 |
1816,HRAS,A59G |
|
|
1819 |
1817,AGXT,R233C |
|
|
1820 |
1818,TMEM67,G740R |
|
|
1821 |
1819,F8,G224W |
|
|
1822 |
1820,MLYCD,M40T |
|
|
1823 |
1821,AICDA,F151S |
|
|
1824 |
1822,ADAMTS13,A250V |
|
|
1825 |
1823,PTCH2,R719Q |
|
|
1826 |
1824,SAMHD1,M254V |
|
|
1827 |
1825,BTK,T33P |
|
|
1828 |
1826,CYP2C9,R144C |
|
|
1829 |
1827,EPM2A,R171H |
|
|
1830 |
1828,ALAS2,Y199H |
|
|
1831 |
1829,MMACHC,R161Q |
|
|
1832 |
1830,CACNA1H,P618L |
|
|
1833 |
1831,KDM5C,L731F |
|
|
1834 |
1832,PDGFRB,P660T |
|
|
1835 |
1833,RDH12,P230A |
|
|
1836 |
1834,ARL6,T31M |
|
|
1837 |
1835,CACNA1A,V1456L |
|
|
1838 |
1836,CTNS,G197R |
|
|
1839 |
1837,CREBBP,E1278K |
|
|
1840 |
1838,BCS1L,T50A |
|
|
1841 |
1839,SRPX2,N327S |
|
|
1842 |
1840,MTOR,A41S |
|
|
1843 |
1841,ERBB3,E928G |
|
|
1844 |
1842,KIF21A,M947I |
|
|
1845 |
1843,PTPN11,N308D |
|
|
1846 |
1844,SMAD4,R515A |
|
|
1847 |
1845,F8,L26R |
|
|
1848 |
1846,PDE6C,H602L |
|
|
1849 |
1847,ARSA,S98F |
|
|
1850 |
1848,TUBB2B,L228P |
|
|
1851 |
1849,CCR5,R60S |
|
|
1852 |
1850,NDUFS3,T145I |
|
|
1853 |
1851,FGD1,R443L |
|
|
1854 |
1852,IRF6,R339I |
|
|
1855 |
1853,ABCA4,L541P |
|
|
1856 |
1854,CD40LG,L155P |
|
|
1857 |
1855,CTSA,S108L |
|
|
1858 |
1856,TRIM32,D487N |
|
|
1859 |
1857,NAGLU,R234C |
|
|
1860 |
1858,NOG,R204L |
|
|
1861 |
1859,AR,C580F |
|
|
1862 |
1860,F9,A337P |
|
|
1863 |
1861,SUMF1,S155P |
|
|
1864 |
1862,XDH,R149C |
|
|
1865 |
1863,TYR,R402Q |
|
|
1866 |
1864,MPDU1,L119P |
|
|
1867 |
1865,BRCA1,M1775R |
|
|
1868 |
1866,NDUFAF3,G20R |
|
|
1869 |
1867,FBN2,C1253W |
|
|
1870 |
1868,BBS10,S311A |
|
|
1871 |
1869,CLDN16,G239R |
|
|
1872 |
1870,ITGB2,G284S |
|
|
1873 |
1871,CSRP3,S46R |
|
|
1874 |
1872,AVPR2,Y205C |
|
|
1875 |
1873,OCA2,P743L |
|
|
1876 |
1874,PLA2G4A,R485H |
|
|
1877 |
1875,BMPR1A,A338D |
|
|
1878 |
1876,SGCA,R98H |
|
|
1879 |
1877,ATM,M1040V |
|
|
1880 |
1878,MYO1A,E385D |
|
|
1881 |
1879,LCAT,T371M |
|
|
1882 |
1880,SACS,F1054S |
|
|
1883 |
1881,ABCA3,L326P |
|
|
1884 |
1882,MPO,G501S |
|
|
1885 |
1883,FGF23,S71G |
|
|
1886 |
1884,PARK7,A39S |
|
|
1887 |
1885,GLA,P146S |
|
|
1888 |
1886,PAX6,G64V |
|
|
1889 |
1887,SLC39A4,P200L |
|
|
1890 |
1888,TBX20,I121M |
|
|
1891 |
1889,SLC26A4,Q514K |
|
|
1892 |
1890,LPL,S271T |
|
|
1893 |
1891,KIRREL3,V731F |
|
|
1894 |
1892,TP53,V218dup |
|
|
1895 |
1893,PTS,R25Q |
|
|
1896 |
1894,CHEK2,A17S |
|
|
1897 |
1895,BMPR2,R491Q |
|
|
1898 |
1896,ATP8B1,R867C |
|
|
1899 |
1897,BCKDHA,C264W |
|
|
1900 |
1898,SHH,D88V |
|
|
1901 |
1899,IFT122,S373F |
|
|
1902 |
1900,DYSF,G519R |
|
|
1903 |
1901,PIK3CA,P447_L455del |
|
|
1904 |
1902,TSC2,V241del |
|
|
1905 |
1903,F11,R326C |
|
|
1906 |
1904,G6PD,N195D |
|
|
1907 |
1905,MYO15A,Q2716H |
|
|
1908 |
1906,RB1,R621C |
|
|
1909 |
1907,BMP15,A180T |
|
|
1910 |
1908,ACVRL1,R411Q |
|
|
1911 |
1909,PSAT1,D100A |
|
|
1912 |
1910,HEXA,G250D |
|
|
1913 |
1911,NYX,I101T |
|
|
1914 |
1912,MCFD2,D81Y |
|
|
1915 |
1913,TUBB3,E410K |
|
|
1916 |
1914,TSHR,D410N |
|
|
1917 |
1915,ATP7B,R919G |
|
|
1918 |
1916,NOP10,R34W |
|
|
1919 |
1917,CYBA,H94R |
|
|
1920 |
1918,WT1,R434C |
|
|
1921 |
1919,WNT10A,R128Q |
|
|
1922 |
1920,MPO,Y173C |
|
|
1923 |
1921,SLC12A3,L859P |
|
|
1924 |
1922,CCT5,H147R |
|
|
1925 |
1923,F8,D222V |
|
|
1926 |
1924,PRPF8,H2309R |
|
|
1927 |
1925,VSX1,G160D |
|
|
1928 |
1926,DICER1,D1709N |
|
|
1929 |
1927,POMT2,W748R |
|
|
1930 |
1928,CFTR,L997F |
|
|
1931 |
1929,GBE1,H545R |
|
|
1932 |
1930,F8,N299I |
|
|
1933 |
1931,ZEB2,Q1119R |
|
|
1934 |
1932,GJB1,V136A |
|
|
1935 |
1933,MEFV,R653H |
|
|
1936 |
1934,GRIA3,R631S |
|
|
1937 |
1935,TSHR,S281I |
|
|
1938 |
1936,OCA2,R305W |
|
|
1939 |
1937,WNK4,Q565E |
|
|
1940 |
1938,SNCB,V70M |
|
|
1941 |
1939,MKS1,C482W |
|
|
1942 |
1940,ABCA3,L1553P |
|
|
1943 |
1941,MYOC,G252R |
|
|
1944 |
1942,LBR,P119L |
|
|
1945 |
1943,UROD,N304K |
|
|
1946 |
1944,RSPO4,C118Y |
|
|
1947 |
1945,NDUFS3,R199W |
|
|
1948 |
1946,ARSA,G88D |
|
|
1949 |
1947,LCAT,N155D |
|
|
1950 |
1948,EXT1,G339D |
|
|
1951 |
1949,PKLR,R510Q |
|
|
1952 |
1950,NPC2,S67P |
|
|
1953 |
1951,PLOD3,N223S |
|
|
1954 |
1952,FANCC,L496R |
|
|
1955 |
1953,BEST1,W93C |
|
|
1956 |
1954,KDM5C,S451R |
|
|
1957 |
1955,BRCA2,L2653P |
|
|
1958 |
1956,SLC10A2,L243P |
|
|
1959 |
1957,GHR,I544L |
|
|
1960 |
1958,KCNQ1,A525T |
|
|
1961 |
1959,F8,K444R |
|
|
1962 |
1960,KCNJ10,A167V |
|
|
1963 |
1961,ABCA1,W590S |
|
|
1964 |
1962,BEST1,V86M |
|
|
1965 |
1963,GBA,R502C |
|
|
1966 |
1964,ABCA4,D2177N |
|
|
1967 |
1965,PFKM,D614A |
|
|
1968 |
1966,B4GALT7,A186D |
|
|
1969 |
1967,CYP17A1,R96Q |
|
|
1970 |
1968,GRM6,I405T |
|
|
1971 |
1969,TYR,G419R |
|
|
1972 |
1970,HSPB1,T151I |
|
|
1973 |
1971,SLC29A3,T449R |
|
|
1974 |
1972,MEF2A,P279L |
|
|
1975 |
1973,HPRT1,D177Y |
|
|
1976 |
1974,C6,E98A |
|
|
1977 |
1975,PON2,S311C |
|
|
1978 |
1976,CDKN1B,G9R |
|
|
1979 |
1977,MOGS,F652L |
|
|
1980 |
1978,KCNQ1,W305S |
|
|
1981 |
1979,L1CAM,D598N |
|
|
1982 |
1980,KCNJ11,R301H |
|
|
1983 |
1981,LRP4,D449N |
|
|
1984 |
1982,EDA,Q358E |
|
|
1985 |
1983,FGD1,R610Q |
|
|
1986 |
1984,CLCNKB,A349D |
|
|
1987 |
1985,CYP17A1,W406R |
|
|
1988 |
1986,G6PD,K416E |
|
|
1989 |
1987,INF2,R218Q |
|
|
1990 |
1988,TECTA,Y1870C |
|
|
1991 |
1989,ATP2C1,A304T |
|
|
1992 |
1990,MYOC,P370L |
|
|
1993 |
1991,GATA1,R216Q |
|
|
1994 |
1992,PSEN2,A85V |
|
|
1995 |
1993,EDARADD,E142K |
|
|
1996 |
1994,ARX,T333N |
|
|
1997 |
1995,DBH,D114E |
|
|
1998 |
1996,IDS,R468L |
|
|
1999 |
1997,SLC17A5,R39C |
|
|
2000 |
1998,ADA,G74V |
|
|
2001 |
1999,DCX,T203R |
|
|
2002 |
2000,ACVRL1,R411P |
|
|
2003 |
2001,LDLR,E228K |
|
|
2004 |
2002,CREBBP,R1378P |
|
|
2005 |
2003,SGSH,R206P |
|
|
2006 |
2004,CACNA1F,G369D |
|
|
2007 |
2005,NR0B1,K382N |
|
|
2008 |
2006,OAT,Y245C |
|
|
2009 |
2007,MAT1A,G336R |
|
|
2010 |
2008,PROC,E62A |
|
|
2011 |
2009,MFN2,V69F |
|
|
2012 |
2010,PRPF3,T494M |
|
|
2013 |
2011,PARK7,E163K |
|
|
2014 |
2012,D2HGDH,N439D |
|
|
2015 |
2013,CASR,L727Q |
|
|
2016 |
2014,G6PD,F246L |
|
|
2017 |
2015,F8,R1800G |
|
|
2018 |
2016,ARSA,I181S |
|
|
2019 |
2017,UROC1,L70P |
|
|
2020 |
2018,PEX12,R91S |
|
|
2021 |
2019,TGFBI,R666S |
|
|
2022 |
2020,SLC26A4,T721M |
|
|
2023 |
2021,F8,M1791T |
|
|
2024 |
2022,F9,D110G |
|
|
2025 |
2023,F8,R1708C |
|
|
2026 |
2024,ABCA4,G863A |
|
|
2027 |
2025,NPC1,R958Q |
|
|
2028 |
2026,SOX9,A158T |
|
|
2029 |
2027,NDUFAF5,L229P |
|
|
2030 |
2028,ABCA12,E1539K |
|
|
2031 |
2029,PAX6,P68S |
|
|
2032 |
2030,PSEN2,T430M |
|
|
2033 |
2031,G6PD,G193S |
|
|
2034 |
2032,CYP17A1,R96W |
|
|
2035 |
2033,F5,Y1730C |
|
|
2036 |
2034,LPL,I252T |
|
|
2037 |
2035,ALX3,L168V |
|
|
2038 |
2036,GCH1,K224R |
|
|
2039 |
2037,FKTN,Y371C |
|
|
2040 |
2038,SLC11A2,G241V |
|
|
2041 |
2039,IYD,R101W |
|
|
2042 |
2040,ATRX,H1609R |
|
|
2043 |
2041,MLH1,K618A |
|
|
2044 |
2042,PINK1,A217D |
|
|
2045 |
2043,ABCC8,R1353P |
|
|
2046 |
2044,PAH,D415N |
|
|
2047 |
2045,PON2,A148G |
|
|
2048 |
2046,SLC22A4,L503F |
|
|
2049 |
2047,COCH,M512T |
|
|
2050 |
2048,GAN,E169K |
|
|
2051 |
2049,SLC45A2,L361P |
|
|
2052 |
2050,KDM5C,R766W |
|
|
2053 |
2051,DCLRE1C,H35D |
|
|
2054 |
2052,GLB1,R457Q |
|
|
2055 |
2053,AR,R775C |
|
|
2056 |
2054,ROS1,YWHAE-ROS1 Fusion |
|
|
2057 |
2055,KRT74,N148K |
|
|
2058 |
2056,GBA,S403T |
|
|
2059 |
2057,MLH3,V741F |
|
|
2060 |
2058,VHL,S111C |
|
|
2061 |
2059,RS1,W96R |
|
|
2062 |
2060,LEPR,K109R |
|
|
2063 |
2061,VHL,R167G |
|
|
2064 |
2062,CDH23,D1341N |
|
|
2065 |
2063,TYR,R217W |
|
|
2066 |
2064,ERCC8,A160V |
|
|
2067 |
2065,GUCY2D,E837D |
|
|
2068 |
2066,FRZB,R324G |
|
|
2069 |
2067,ASS1,G390R |
|
|
2070 |
2068,CYP27B1,P382S |
|
|
2071 |
2069,HEXA,W485R |
|
|
2072 |
2070,NHP2,Y139H |
|
|
2073 |
2071,SCN5A,Y1794H |
|
|
2074 |
2072,RPS26,D33N |
|
|
2075 |
2073,ALDOB,N335K |
|
|
2076 |
2074,CYP27B1,E189G |
|
|
2077 |
2075,PPT1,T75P |
|
|
2078 |
2076,CPT2,D213G |
|
|
2079 |
2077,SRD5A2,G115D |
|
|
2080 |
2078,CASR,G670E |
|
|
2081 |
2079,DNM2,E368K |
|
|
2082 |
2080,HADH,A40T |
|
|
2083 |
2081,ABCD1,E291K |
|
|
2084 |
2082,IGHMBP2,H213R |
|
|
2085 |
2083,KCNJ2,V302M |
|
|
2086 |
2084,IKBKG,L153R |
|
|
2087 |
2085,CASR,S820F |
|
|
2088 |
2086,ALDH4A1,S352L |
|
|
2089 |
2087,CYP4V2,R508H |
|
|
2090 |
2088,LDLR,C667Y |
|
|
2091 |
2089,LIG4,R278H |
|
|
2092 |
2090,MMADHC,Y249C |
|
|
2093 |
2091,GDF6,Q253L |
|
|
2094 |
2092,IDS,R468Q |
|
|
2095 |
2093,CDH23,R301Q |
|
|
2096 |
2094,LRP5,R444C |
|
|
2097 |
2095,MTMR14,Y462C |
|
|
2098 |
2096,LIPA,L200P |
|
|
2099 |
2097,KCNJ1,A195V |
|
|
2100 |
2098,F8,G498R |
|
|
2101 |
2099,USH1C,P608R |
|
|
2102 |
2100,GDF6,A249E |
|
|
2103 |
2101,GLA,N272S |
|
|
2104 |
2102,SGCA,E137G |
|
|
2105 |
2103,LRP5,E1367K |
|
|
2106 |
2104,AVP,C92Y |
|
|
2107 |
2105,RAPSN,R164C |
|
|
2108 |
2106,GJB6,T5M |
|
|
2109 |
2107,HSD3B2,null373C |
|
|
2110 |
2108,MINPP1,S41L |
|
|
2111 |
2109,G6PD,R469P |
|
|
2112 |
2110,LCAT,R159W |
|
|
2113 |
2111,CACNA1A,E1756K |
|
|
2114 |
2112,IYD,A220T |
|
|
2115 |
2113,GLB1,Y83H |
|
|
2116 |
2114,PROKR2,M323I |
|
|
2117 |
2115,ACVRL1,W399S |
|
|
2118 |
2116,GALNS,V138A |
|
|
2119 |
2117,CA2,N252D |
|
|
2120 |
2118,APC,G1120E |
|
|
2121 |
2119,ALK,F1174S |
|
|
2122 |
2120,PROC,A301V |
|
|
2123 |
2121,POMT1,W582C |
|
|
2124 |
2122,ABCA4,E1036K |
|
|
2125 |
2123,GALE,G319E |
|
|
2126 |
2124,F8,E30V |
|
|
2127 |
2125,HGSNAT,M482K |
|
|
2128 |
2126,FAM20C,L388R |
|
|
2129 |
2127,MMADHC,T182N |
|
|
2130 |
2128,GNA11,R183C |
|
|
2131 |
2129,NPC1,N1156S |
|
|
2132 |
2130,F8,N2038S |
|
|
2133 |
2131,SLC4A11,R853H |
|
|
2134 |
2132,LAMP2,V310I |
|
|
2135 |
2133,CFTR,I1234V |
|
|
2136 |
2134,CYBB,P304R |
|
|
2137 |
2135,ADSL,M225T |
|
|
2138 |
2136,WAS,S82P |
|
|
2139 |
2137,ERCC6,P1095R |
|
|
2140 |
2138,STS,C446Y |
|
|
2141 |
2139,MAP2K4,A279T |
|
|
2142 |
2140,F8,G1979V |
|
|
2143 |
2141,ROS1,TPM3-ROS1 Fusion |
|
|
2144 |
2142,DHCR7,T289I |
|
|
2145 |
2143,SLURP1,C99Y |
|
|
2146 |
2144,SLC22A12,R90H |
|
|
2147 |
2145,HMGCS2,Y167C |
|
|
2148 |
2146,NPC1,A1035V |
|
|
2149 |
2147,GDF1,C267Y |
|
|
2150 |
2148,KRT9,L168S |
|
|
2151 |
2149,DARS2,L626V |
|
|
2152 |
2150,MYO7A,R212H |
|
|
2153 |
2151,EGFR,L747_S752del |
|
|
2154 |
2152,CLCN5,S244L |
|
|
2155 |
2153,GJB1,V13L |
|
|
2156 |
2154,CARD11,E93D |
|
|
2157 |
2155,TP53,C242Y |
|
|
2158 |
2156,SLC4A11,R853C |
|
|
2159 |
2157,SLC29A3,G427S |
|
|
2160 |
2158,F8,R550C |
|
|
2161 |
2159,MGAT2,N318D |
|
|
2162 |
2160,PTPN22,R620W |
|
|
2163 |
2161,FREM1,G1440S |
|
|
2164 |
2162,CASK,D710G |
|
|
2165 |
2163,CYP17A1,R125Q |
|
|
2166 |
2164,PRPF31,A194E |
|
|
2167 |
2165,G6PC,R83C |
|
|
2168 |
2166,MMP13,M91T |
|
|
2169 |
2167,LRP5,R752G |
|
|
2170 |
2168,F8,R2016W |
|
|
2171 |
2169,MCCC2,R268T |
|
|
2172 |
2170,F11,F460V |
|
|
2173 |
2171,F8,T314A |
|
|
2174 |
2172,GJB3,E183K |
|
|
2175 |
2173,FGD1,M466V |
|
|
2176 |
2174,MLH3,Q24E |
|
|
2177 |
2175,F8,V653A |
|
|
2178 |
2176,LCAT,A117T |
|
|
2179 |
2177,G6PD,Y100H |
|
|
2180 |
2178,CYP2R1,L99P |
|
|
2181 |
2179,MYD88,R209C |
|
|
2182 |
2180,TGFBR1,Truncating Mutations |
|
|
2183 |
2181,SCN9A,V1298F |
|
|
2184 |
2182,OAT,Q90E |
|
|
2185 |
2183,GRM6,G150S |
|
|
2186 |
2184,FBLN5,V60L |
|
|
2187 |
2185,CPT2,S113L |
|
|
2188 |
2186,PRKN,T240R |
|
|
2189 |
2187,KCNJ2,T75R |
|
|
2190 |
2188,F8,L117R |
|
|
2191 |
2189,HFE,C282Y |
|
|
2192 |
2190,CLCN5,G260V |
|
|
2193 |
2191,RS1,E72K |
|
|
2194 |
2192,GDF6,L289P |
|
|
2195 |
2193,F8,D2093G |
|
|
2196 |
2194,KRT12,R135T |
|
|
2197 |
2195,SOX10,A157V |
|
|
2198 |
2196,GALNS,S162F |
|
|
2199 |
2197,PAH,R252W |
|
|
2200 |
2198,NHLRC1,D308A |
|
|
2201 |
2199,SLC40A1,G323V |
|
|
2202 |
2200,PRPS1,D52H |
|
|
2203 |
2201,FGF8,R127G |
|
|
2204 |
2202,UROD,E167K |
|
|
2205 |
2203,ABCA1,N935S |
|
|
2206 |
2204,OPN1LW,C203R |
|
|
2207 |
2205,MEFV,E148Q |
|
|
2208 |
2206,BIN1,D151N |
|
|
2209 |
2207,PSEN2,T122R |
|
|
2210 |
2208,PIGV,Q256K |
|
|
2211 |
2209,INPP5E,R435Q |
|
|
2212 |
2210,MCCC2,C167R |
|
|
2213 |
2211,SCN4A,V1442E |
|
|
2214 |
2212,NR3C2,L979P |
|
|
2215 |
2213,SLC4A11,S473L |
|
|
2216 |
2214,SMN1,T274I |
|
|
2217 |
2215,HMBS,L81P |
|
|
2218 |
2216,CYP21A2,P454S |
|
|
2219 |
2217,KARS,L133H |
|
|
2220 |
2218,ABCA1,R2081W |
|
|
2221 |
2219,MYO5B,P660L |
|
|
2222 |
2220,TSHR,C41S |
|
|
2223 |
2221,IHH,E95K |
|
|
2224 |
2222,NRAS,G12C |
|
|
2225 |
2223,MFSD8,P412L |
|
|
2226 |
2224,CASP10,I406L |
|
|
2227 |
2225,NKX2-1,W238L |
|
|
2228 |
2226,NOG,P35A |
|
|
2229 |
2227,GNMT,L50P |
|
|
2230 |
2228,PKD1,L845S |
|
|
2231 |
2229,KCNJ11,K23E |
|
|
2232 |
2230,FLT3,D600_L601insDFREYEYD |
|
|
2233 |
2231,SETX,L1977F |
|
|
2234 |
2232,SLC22A12,T217M |
|
|
2235 |
2233,PYGM,Q666E |
|
|
2236 |
2234,HSPB3,R7S |
|
|
2237 |
2235,SLC6A19,D173N |
|
|
2238 |
2236,NPHP4,F991S |
|
|
2239 |
2237,PMM2,F119L |
|
|
2240 |
2238,GBE1,R515C |
|
|
2241 |
2239,EIF2B2,S171F |
|
|
2242 |
2240,BCS1L,S78G |
|
|
2243 |
2241,PITX2,L54Q |
|
|
2244 |
2242,PTEN,H93Y |
|
|
2245 |
2243,GRM6,P46L |
|
|
2246 |
2244,APC,Truncating Mutations |
|
|
2247 |
2245,MYO1A,G662E |
|
|
2248 |
2246,NKX2-6,F151L |
|
|
2249 |
2247,DNMT3B,R840Q |
|
|
2250 |
2248,F8,D561G |
|
|
2251 |
2249,GNE,A662V |
|
|
2252 |
2250,RPGRIP1L,T615P |
|
|
2253 |
2251,TLR3,P554S |
|
|
2254 |
2252,TSC1,Deletion |
|
|
2255 |
2253,MYC,T73A |
|
|
2256 |
2254,OAT,H319Y |
|
|
2257 |
2255,TECTA,C1837G |
|
|
2258 |
2256,UROS,V82F |
|
|
2259 |
2257,PDGFRA,V469A |
|
|
2260 |
2258,PIK3CA,G106R |
|
|
2261 |
2259,NECTIN4,R284Q |
|
|
2262 |
2260,SETBP1,I871T |
|
|
2263 |
2261,BRAF,V600_K601delinsE |
|
|
2264 |
2262,ABCC9,A1513T |
|
|
2265 |
2263,F8,R546W |
|
|
2266 |
2264,TSPAN12,A237P |
|
|
2267 |
2265,AGPS,T309I |
|
|
2268 |
2266,SLC35D1,T65P |
|
|
2269 |
2267,KCNE2,M54T |
|
|
2270 |
2268,OAT,R180T |
|
|
2271 |
2269,DNM2,L570H |
|
|
2272 |
2270,FUT1,L164H |
|
|
2273 |
2271,PITPNM3,Q626H |
|
|
2274 |
2272,APC,E1317Q |
|
|
2275 |
2273,GIF,Q23R |
|
|
2276 |
2274,WFS1,G831D |
|
|
2277 |
2275,KRT9,N161I |
|
|
2278 |
2276,SLC26A2,A715V |
|
|
2279 |
2277,PYGM,G686R |
|
|
2280 |
2278,TUBA1A,I188L |
|
|
2281 |
2279,SLC26A4,E384G |
|
|
2282 |
2280,OTC,Y345D |
|
|
2283 |
2281,EGFR,V769_D770insASV |
|
|
2284 |
2282,TRPV4,R269C |
|
|
2285 |
2283,ALAS2,D159Y |
|
|
2286 |
2284,MLC1,P92S |
|
|
2287 |
2285,NOTCH1,G2420C |
|
|
2288 |
2286,PKHD1,T36M |
|
|
2289 |
2287,GDNF,D167N |
|
|
2290 |
2288,CASR,F881L |
|
|
2291 |
2289,EDA,E63K |
|
|
2292 |
2290,NOTCH1,Deletion |
|
|
2293 |
2291,SLC12A3,A588V |
|
|
2294 |
2292,UROS,P248Q |
|
|
2295 |
2293,GP1BA,G249V |
|
|
2296 |
2294,ESRRB,V342L |
|
|
2297 |
2295,OAT,L437F |
|
|
2298 |
2296,TECTA,R2021H |
|
|
2299 |
2297,TULP1,F491L |
|
|
2300 |
2298,VHL,D126Y |
|
|
2301 |
2299,SLC12A3,R655L |
|
|
2302 |
2300,HMBS,E250K |
|
|
2303 |
2301,SIL1,L457P |
|
|
2304 |
2302,BTK,K430E |
|
|
2305 |
2303,BCS1L,P99L |
|
|
2306 |
2304,SPOP,K134N |
|
|
2307 |
2305,OAT,A184T |
|
|
2308 |
2306,PAH,V388M |
|
|
2309 |
2307,PRPF8,H2309P |
|
|
2310 |
2308,LRP5,G171R |
|
|
2311 |
2309,PAFAH1B1,D317H |
|
|
2312 |
2310,WNT7A,A109T |
|
|
2313 |
2311,PAK3,A365E |
|
|
2314 |
2312,GNE,R266Q |
|
|
2315 |
2313,LRRK2,G2385R |
|
|
2316 |
2314,LRP6,R611C |
|
|
2317 |
2315,HFE,I105T |
|
|
2318 |
2316,KCNJ2,G300V |
|
|
2319 |
2317,GJA8,D47N |
|
|
2320 |
2318,SCN4A,M1592V |
|
|
2321 |
2319,HEXA,R178L |
|
|
2322 |
2320,PTPRJ,Q276P |
|
|
2323 |
2321,STOX1,Y153H |
|
|
2324 |
2322,HPRT1,F199V |
|
|
2325 |
2323,SELENON,null462G |
|
|
2326 |
2324,HSPB1,L99M |
|
|
2327 |
2325,RNF135,R286H |
|
|
2328 |
2326,SHOC2,M173I |
|
|
2329 |
2327,SGCE,L196R |
|
|
2330 |
2328,VSX1,L159M |
|
|
2331 |
2329,JAK1,G871E |
|
|
2332 |
2330,HADH,D57E |
|
|
2333 |
2331,AR,F857L |
|
|
2334 |
2332,HSPB1,P182S |
|
|
2335 |
2333,AR,S648N |
|
|
2336 |
2334,G6PD,P497R |
|
|
2337 |
2335,CRX,R41W |
|
|
2338 |
2336,F5,R334T |
|
|
2339 |
2337,DMD,T279A |
|
|
2340 |
2338,PITX2,V83L |
|
|
2341 |
2339,GLDC,G761R |
|
|
2342 |
2340,CLN8,W263C |
|
|
2343 |
2341,UMOD,C300G |
|
|
2344 |
2342,DCX,A71S |
|
|
2345 |
2343,ATPAF2,W94R |
|
|
2346 |
2344,FGF23,S129F |
|
|
2347 |
2345,FOXP3,F367L |
|
|
2348 |
2346,COQ2,R197H |
|
|
2349 |
2347,ASS1,K310Q |
|
|
2350 |
2348,KCNE3,R99H |
|
|
2351 |
2349,ATRX,K1650N |
|
|
2352 |
2350,MYOC,D380H |
|
|
2353 |
2351,CPT2,F383Y |
|
|
2354 |
2352,RDH5,R157W |
|
|
2355 |
2353,G6PD,I78T |
|
|
2356 |
2354,SLC4A11,G693E |
|
|
2357 |
2355,CYP4F22,H436D |
|
|
2358 |
2356,TP53,K120A |
|
|
2359 |
2357,ZFP57,H277N |
|
|
2360 |
2358,LPL,D231E |
|
|
2361 |
2359,EPM2A,W32G |
|
|
2362 |
2360,LDLR,G565V |
|
|
2363 |
2361,G6PD,R228H |
|
|
2364 |
2362,AKT1,R328A |
|
|
2365 |
2363,CASK,Y268H |
|
|
2366 |
2364,MAP2K1,K57N |
|
|
2367 |
2365,TAS2R38,A49P |
|
|
2368 |
2366,ARHGEF9,G55A |
|
|
2369 |
2367,KISS1R,null399R |
|
|
2370 |
2368,TMC1,M654V |
|
|
2371 |
2369,AMT,D276H |
|
|
2372 |
2370,SMAD4,P102L |
|
|
2373 |
2371,PLA2G6,K545T |
|
|
2374 |
2372,ABCA4,A1038V |
|
|
2375 |
2373,F9,C396S |
|
|
2376 |
2374,ROBO3,R245W |
|
|
2377 |
2375,VCP,R155C |
|
|
2378 |
2376,TWNK,A475P |
|
|
2379 |
2377,TMEM216,L114R |
|
|
2380 |
2378,SUMF1,C218Y |
|
|
2381 |
2379,GRM6,C522Y |
|
|
2382 |
2380,ATL1,H258R |
|
|
2383 |
2381,TP63,N6H |
|
|
2384 |
2382,CNGA3,F547L |
|
|
2385 |
2383,ERCC2,R450H |
|
|
2386 |
2384,CYP21A2,S269T |
|
|
2387 |
2385,LPAR6,I188F |
|
|
2388 |
2386,FLT3,K868N |
|
|
2389 |
2387,PLOD2,R598H |
|
|
2390 |
2388,ANO5,C356G |
|
|
2391 |
2389,AGPS,L469P |
|
|
2392 |
2390,ROBO3,I66L |
|
|
2393 |
2391,NAGLU,F48L |
|
|
2394 |
2392,APC,R414C |
|
|
2395 |
2393,HCN4,G480R |
|
|
2396 |
2394,PEX1,G843D |
|
|
2397 |
2395,SIX3,V250A |
|
|
2398 |
2396,NPC1,Y1088C |
|
|
2399 |
2397,MCCC2,E99Q |
|
|
2400 |
2398,TARDBP,G298S |
|
|
2401 |
2399,PRPS1,N114S |
|
|
2402 |
2400,IL2RG,R222C |
|
|
2403 |
2401,ACAD8,R330W |
|
|
2404 |
2402,MYOC,Y437H |
|
|
2405 |
2403,TYR,D42G |
|
|
2406 |
2404,MFSD8,G310D |
|
|
2407 |
2405,LDLR,N564H |
|
|
2408 |
2406,ABCA4,L1970F |
|
|
2409 |
2407,EPAS1,G537W |
|
|
2410 |
2408,POLE,P286S |
|
|
2411 |
2409,ATL1,R415W |
|
|
2412 |
2410,PDX1,E224K |
|
|
2413 |
2411,LEPR,Q223R |
|
|
2414 |
2412,ACAT1,A380T |
|
|
2415 |
2413,HPRT1,L65F |
|
|
2416 |
2414,MYOC,G399V |
|
|
2417 |
2415,ASPA,E24G |
|
|
2418 |
2416,BMPR1B,R486Q |
|
|
2419 |
2417,IDUA,null654G |
|
|
2420 |
2418,NRAS,G12R |
|
|
2421 |
2419,CYP17A1,D116V |
|
|
2422 |
2420,NDUFA1,R37S |
|
|
2423 |
2421,MLH3,E624Q |
|
|
2424 |
2422,DMGDH,H109R |
|
|
2425 |
2423,F8,R717W |
|
|
2426 |
2424,SLC4A4,R342S |
|
|
2427 |
2425,TP53,S121F |
|
|
2428 |
2426,ING1,N172S |
|
|
2429 |
2427,HPRT1,G58R |
|
|
2430 |
2428,SUMF1,A279V |
|
|
2431 |
2429,MECP2,P152A |
|
|
2432 |
2430,F9,P414T |
|
|
2433 |
2431,ALG9,E530K |
|
|
2434 |
2432,ASAH1,N336D |
|
|
2435 |
2433,KCNJ11,V59G |
|
|
2436 |
2434,DYSF,E1755G |
|
|
2437 |
2435,TPP1,N286S |
|
|
2438 |
2436,DCTN1,Q74P |
|
|
2439 |
2437,UCHL1,I93M |
|
|
2440 |
2438,OTC,R141Q |
|
|
2441 |
2439,GDAP1,R226S |
|
|
2442 |
2440,EGFR,I941R |
|
|
2443 |
2441,NEU1,L91R |
|
|
2444 |
2442,LDLR,D304N |
|
|
2445 |
2443,HSD3B2,T259M |
|
|
2446 |
2444,BRD4,Fusions |
|
|
2447 |
2445,XK,C294R |
|
|
2448 |
2446,PDE6C,E211D |
|
|
2449 |
2447,ROBO3,L5P |
|
|
2450 |
2448,KCNE2,I57T |
|
|
2451 |
2449,AMHR2,R406Q |
|
|
2452 |
2450,ABCC8,L213R |
|
|
2453 |
2451,CCM2,L219R |
|
|
2454 |
2452,LRRK2,G2019S |
|
|
2455 |
2453,DBT,H452R |
|
|
2456 |
2454,KRT9,L160F |
|
|
2457 |
2455,GALNS,G301C |
|
|
2458 |
2456,GUSB,A619V |
|
|
2459 |
2457,GALNS,A291T |
|
|
2460 |
2458,SGCG,C283Y |
|
|
2461 |
2459,G6PD,R257Q |
|
|
2462 |
2460,TLR2,R677W |
|
|
2463 |
2461,BBS1,M390R |
|
|
2464 |
2462,NHP2,V126M |
|
|
2465 |
2463,PROC,G334S |
|
|
2466 |
2464,SETBP1,G870D |
|
|
2467 |
2465,SC5D,G211D |
|
|
2468 |
2466,TNXB,V1108M |
|
|
2469 |
2467,GJA8,R198Q |
|
|
2470 |
2468,GJB6,A88V |
|
|
2471 |
2469,PLP1,D203H |
|
|
2472 |
2470,BSND,G47R |
|
|
2473 |
2471,PLP1,W163R |
|
|
2474 |
2472,GSS,P314L |
|
|
2475 |
2473,PRODH,T466M |
|
|
2476 |
2474,PAH,L98S |
|
|
2477 |
2475,CTSC,H127P |
|
|
2478 |
2476,WFS1,G695V |
|
|
2479 |
2477,TGFBI,R555Q |
|
|
2480 |
2478,TGIF1,S291F |
|
|
2481 |
2479,CYP27B1,R107H |
|
|
2482 |
2480,ARL6,L170W |
|
|
2483 |
2481,TRPV4,R316C |
|
|
2484 |
2482,PEX7,T14P |
|
|
2485 |
2483,PANK2,M437T |
|
|
2486 |
2484,POU6F2,Q191H |
|
|
2487 |
2485,AGXT,G156R |
|
|
2488 |
2486,MECP2,A140V |
|
|
2489 |
2487,NF1,K1423E |
|
|
2490 |
2488,GJA8,V44E |
|
|
2491 |
2489,SLC29A3,M116R |
|
|
2492 |
2490,ADAMTS13,R268P |
|
|
2493 |
2491,NIPBL,A1246G |
|
|
2494 |
2492,FAH,N16I |
|
|
2495 |
2493,SMARCAL1,R764Q |
|
|
2496 |
2494,IDS,W502S |
|
|
2497 |
2495,ROBO2,I945T |
|
|
2498 |
2496,CDK12,Amplification |
|
|
2499 |
2497,F9,T194A |
|
|
2500 |
2498,SUMO4,V55M |
|
|
2501 |
2499,VHL,Y112N |
|
|
2502 |
2500,MDM4,G57A |
|
|
2503 |
2501,PANK2,R264W |
|
|
2504 |
2502,RUNX2,M175R |
|
|
2505 |
2503,ADA,Y97C |
|
|
2506 |
2504,AVPR2,R113W |
|
|
2507 |
2505,KRAS,E62K |
|
|
2508 |
2506,COQ8A,E551K |
|
|
2509 |
2507,ASL,R385C |
|
|
2510 |
2508,CFTR,A349V |
|
|
2511 |
2509,TWNK,A359T |
|
|
2512 |
2510,PHGDH,V425M |
|
|
2513 |
2511,SHH,N115K |
|
|
2514 |
2512,MTRR,S454L |
|
|
2515 |
2513,GBA,A348V |
|
|
2516 |
2514,BCKDHA,T310R |
|
|
2517 |
2515,PLCE1,S1484L |
|
|
2518 |
2516,TAS2R16,N172K |
|
|
2519 |
2517,LRP8,R952Q |
|
|
2520 |
2518,VDR,H305Q |
|
|
2521 |
2519,ABCA1,R219K |
|
|
2522 |
2520,CSRP3,C58G |
|
|
2523 |
2521,WFS1,R859Q |
|
|
2524 |
2522,SLC40A1,G267D |
|
|
2525 |
2523,ACADL,K333Q |
|
|
2526 |
2524,F9,D93G |
|
|
2527 |
2525,DDB2,D307Y |
|
|
2528 |
2526,KLKB1,S143N |
|
|
2529 |
2527,KLF11,A347S |
|
|
2530 |
2528,F8,E739K |
|
|
2531 |
2529,SCN5A,G1408R |
|
|
2532 |
2530,LDLR,V429M |
|
|
2533 |
2531,SGSH,R433Q |
|
|
2534 |
2532,ALAS2,C395Y |
|
|
2535 |
2533,ABCD1,Y174D |
|
|
2536 |
2534,ACVRL1,R411W |
|
|
2537 |
2535,G6PD,N393K |
|
|
2538 |
2536,CFP,Y414D |
|
|
2539 |
2537,TBX22,N264Y |
|
|
2540 |
2538,ALG1,Q342P |
|
|
2541 |
2539,SMPD1,Y469S |
|
|
2542 |
2540,DLD,P488L |
|
|
2543 |
2541,RAD50,null1313Y |
|
|
2544 |
2542,CYP21A2,R357W |
|
|
2545 |
2543,VHL,H115Q |
|
|
2546 |
2544,CPT1A,Y498C |
|
|
2547 |
2545,CBS,T191M |
|
|
2548 |
2546,MOCS2,E168K |
|
|
2549 |
2547,CRX,E80A |
|
|
2550 |
2548,TYR,N371T |
|
|
2551 |
2549,CNGA3,V529M |
|
|
2552 |
2550,FGFR2,D530N |
|
|
2553 |
2551,GDF6,P327H |
|
|
2554 |
2552,CLDN16,L167P |
|
|
2555 |
2553,WNK4,E562K |
|
|
2556 |
2554,FAT1,T4511I |
|
|
2557 |
2555,AANAT,A174T |
|
|
2558 |
2556,PHEX,C85Y |
|
|
2559 |
2557,RFX6,R181Q |
|
|
2560 |
2558,BTK,L408P |
|
|
2561 |
2559,F8,S2088F |
|
|
2562 |
2560,NEUROG3,R93L |
|
|
2563 |
2561,ABCC8,R1353H |
|
|
2564 |
2562,TRPM7,T1482I |
|
|
2565 |
2563,LITAF,W116G |
|
|
2566 |
2564,PRPS1,E43D |
|
|
2567 |
2565,EIF2B4,A228V |
|
|
2568 |
2566,PYGM,G205S |
|
|
2569 |
2567,LITAF,G112S |
|
|
2570 |
2568,TNNT3,R63H |
|
|
2571 |
2569,CLCN7,I261F |
|
|
2572 |
2570,DYSF,P791R |
|
|
2573 |
2571,EDAR,D110A |
|
|
2574 |
2572,F8,R2228G |
|
|
2575 |
2573,A4GALT,P251L |
|
|
2576 |
2574,F9,S411I |
|
|
2577 |
2575,GDAP1,L239F |
|
|
2578 |
2576,NPC1,I1061T |
|
|
2579 |
2577,PLA2G6,R741Q |
|
|
2580 |
2578,ARG1,G235R |
|
|
2581 |
2579,HABP2,G534E |
|
|
2582 |
2580,ACVRL1,R484W |
|
|
2583 |
2581,UROD,G281E |
|
|
2584 |
2582,ARSA,C302F |
|
|
2585 |
2583,PRKCH,V374I |
|
|
2586 |
2584,NOG,W205C |
|
|
2587 |
2585,TP63,R337G |
|
|
2588 |
2586,FHL1,null281E |
|
|
2589 |
2587,GALT,M142K |
|
|
2590 |
2588,MYO7A,L1087P |
|
|
2591 |
2589,CUBN,P1297L |
|
|
2592 |
2590,TP63,S580P |
|
|
2593 |
2591,GDF5,E491K |
|
|
2594 |
2592,PARK7,D149A |
|
|
2595 |
2593,TSC1,F216A |
|
|
2596 |
2594,NDP,V45E |
|
|
2597 |
2595,LRRK2,Y1699C |
|
|
2598 |
2596,EGFR,G598V |
|
|
2599 |
2597,GALNS,F69V |
|
|
2600 |
2598,HOGA1,R97C |
|
|
2601 |
2599,BBS2,R632P |
|
|
2602 |
2600,NAT2,R64Q |
|
|
2603 |
2601,SLC12A3,G630V |
|
|
2604 |
2602,PDE6C,Y323N |
|
|
2605 |
2603,PAFAH1B1,H149R |
|
|
2606 |
2604,CTNNB1,D32Y |
|
|
2607 |
2605,GPR143,G35D |
|
|
2608 |
2606,FOXC1,S82T |
|
|
2609 |
2607,PTEN,G44D |
|
|
2610 |
2608,RSPO4,C73Y |
|
|
2611 |
2609,SEC23B,E109K |
|
|
2612 |
2610,UPF3B,Y160D |
|
|
2613 |
2611,GNE,M743T |
|
|
2614 |
2612,BRCA1,S988A |
|
|
2615 |
2613,CASR,L125P |
|
|
2616 |
2614,NLRP3,A352V |
|
|
2617 |
2615,ARSA,G124S |
|
|
2618 |
2616,MBTPS2,W226L |
|
|
2619 |
2617,NOG,P223L |
|
|
2620 |
2618,SPINK5,K420E |
|
|
2621 |
2619,TRMU,A10S |
|
|
2622 |
2620,GBA,L483P |
|
|
2623 |
2621,RUNX1,R174Q |
|
|
2624 |
2622,DPYS,G435R |
|
|
2625 |
2623,EIF2B5,R315H |
|
|
2626 |
2624,CTSC,W39S |
|
|
2627 |
2625,GJB4,F189Y |
|
|
2628 |
2626,RDH5,G238W |
|
|
2629 |
2627,ABCD1,R401Q |
|
|
2630 |
2628,BTK,A607D |
|
|
2631 |
2629,ARSE,G245R |
|
|
2632 |
2630,EFNB1,W37G |
|
|
2633 |
2631,MOCS2,null189Y |
|
|
2634 |
2632,SMARCA4,Deletion |
|
|
2635 |
2633,PLA2G6,R747W |
|
|
2636 |
2634,F8,L1775V |
|
|
2637 |
2635,MTM1,N189S |
|
|
2638 |
2636,ACADM,C244R |
|
|
2639 |
2637,RTN4R,R196H |
|
|
2640 |
2638,F9,V353A |
|
|
2641 |
2639,SCN9A,L858F |
|
|
2642 |
2640,CCBE1,C75S |
|
|
2643 |
2641,PTEN,R335L |
|
|
2644 |
2642,LDLR,Y828C |
|
|
2645 |
2643,F8,R2228Q |
|
|
2646 |
2644,CLDN16,G191R |
|
|
2647 |
2645,ETFA,T266M |
|
|
2648 |
2646,DCTN1,G59S |
|
|
2649 |
2647,GLB1,I51T |
|
|
2650 |
2648,KIT,Y568_L576delinsVN |
|
|
2651 |
2649,NCF2,R77Q |
|
|
2652 |
2650,KCNE2,Q9E |
|
|
2653 |
2651,BFSP2,R287W |
|
|
2654 |
2652,TFAP2B,R285Q |
|
|
2655 |
2653,CYP11B1,N133H |
|
|
2656 |
2654,F8,P1844S |
|
|
2657 |
2655,ANO5,R758C |
|
|
2658 |
2656,OCA2,V443I |
|
|
2659 |
2657,CTSA,K471E |
|
|
2660 |
2658,LDB3,D673N |
|
|
2661 |
2659,GJB6,G11R |
|
|
2662 |
2660,NLRP3,A439V |
|
|
2663 |
2661,AR,L708R |
|
|
2664 |
2662,ATP7B,G691R |
|
|
2665 |
2663,TYR,T373K |
|
|
2666 |
2664,FOXC1,F112S |
|
|
2667 |
2665,DARS2,R263Q |
|
|
2668 |
2666,RAX2,G137R |
|
|
2669 |
2667,BRCA1,G57R |
|
|
2670 |
2668,EDAR,R89H |
|
|
2671 |
2669,SLC25A15,G27R |
|
|
2672 |
2670,DCTN1,M571T |
|
|
2673 |
2671,DYSF,R1046H |
|
|
2674 |
2672,ACAT1,G379V |
|
|
2675 |
2673,SCN9A,V1299F |
|
|
2676 |
2674,DLD,E375K |
|
|
2677 |
2675,UBIAD1,D112G |
|
|
2678 |
2676,SLC52A3,E36K |
|
|
2679 |
2677,CRELD1,E414K |
|
|
2680 |
2678,L1CAM,G370R |
|
|
2681 |
2679,SCN9A,L858H |
|
|
2682 |
2680,ASS1,R108L |
|
|
2683 |
2681,CASR,F180C |
|
|
2684 |
2682,SPAST,S445R |
|
|
2685 |
2683,CYP27A1,R405Q |
|
|
2686 |
2684,ALG3,M157K |
|
|
2687 |
2685,GHR,F114S |
|
|
2688 |
2686,EGFR,P772_V774dup |
|
|
2689 |
2687,PEX7,A218V |
|
|
2690 |
2688,CYP17A1,F114V |
|
|
2691 |
2689,LPL,A203T |
|
|
2692 |
2690,PKLR,R163C |
|
|
2693 |
2691,TMEM67,Y513C |
|
|
2694 |
2692,SMAD4,D493H |
|
|
2695 |
2693,BRCA1,S1448G |
|
|
2696 |
2694,CYP21A2,V282L |
|
|
2697 |
2695,LPL,D183G |
|
|
2698 |
2696,CASR,R62M |
|
|
2699 |
2697,GJB1,V139M |
|
|
2700 |
2698,BAG3,P209L |
|
|
2701 |
2699,APTX,L223P |
|
|
2702 |
2700,GBA,V433L |
|
|
2703 |
2701,HFE2,C80R |
|
|
2704 |
2702,EIF2B5,F56V |
|
|
2705 |
2703,NDUFAF5,L159F |
|
|
2706 |
2704,SPAST,S44L |
|
|
2707 |
2705,ROBO3,R703P |
|
|
2708 |
2706,ALK,EML4-ALK Fusion |
|
|
2709 |
2707,FAAH,P129T |
|
|
2710 |
2708,EIF2B4,Y489H |
|
|
2711 |
2709,EDAR,C87R |
|
|
2712 |
2710,INPP5E,R563H |
|
|
2713 |
2711,NOTCH2,C444Y |
|
|
2714 |
2712,PTPN12,K61R |
|
|
2715 |
2713,CAV3,R27Q |
|
|
2716 |
2714,WNT4,R83W |
|
|
2717 |
2715,VWF,R1205H |
|
|
2718 |
2716,ITGB2,K196T |
|
|
2719 |
2717,CLCN7,R762Q |
|
|
2720 |
2718,ITGB2,P178L |
|
|
2721 |
2719,TGIF1,Q107L |
|
|
2722 |
2720,A4GALT,M183K |
|
|
2723 |
2721,KIF21A,M947R |
|
|
2724 |
2722,AVPR2,R104C |
|
|
2725 |
2723,RAD51C,A126T |
|
|
2726 |
2724,MUTYH,Q414R |
|
|
2727 |
2725,KCNQ4,G321S |
|
|
2728 |
2726,KCNQ2,R207Q |
|
|
2729 |
2727,PMM2,P113L |
|
|
2730 |
2728,CFTR,A1067T |
|
|
2731 |
2729,GHR,V173G |
|
|
2732 |
2730,G6PD,H62R |
|
|
2733 |
2731,F8,R2178H |
|
|
2734 |
2732,TP63,K233E |
|
|
2735 |
2733,NR3C2,S810L |
|
|
2736 |
2734,MPO,M251T |
|
|
2737 |
2735,COL4A5,G325E |
|
|
2738 |
2736,CASK,R28L |
|
|
2739 |
2737,BRCA1,F1734L |
|
|
2740 |
2738,SERPINA7,Y329F |
|
|
2741 |
2739,TRPV4,V620I |
|
|
2742 |
2740,ABL1,D276G |
|
|
2743 |
2741,GLB1,Y591C |
|
|
2744 |
2742,NAGS,L430P |
|
|
2745 |
2743,ADAMTSL2,P147L |
|
|
2746 |
2744,NLRP3,F573S |
|
|
2747 |
2745,MEFV,P369S |
|
|
2748 |
2746,DKC1,P40R |
|
|
2749 |
2747,PSEN2,N141I |
|
|
2750 |
2748,IKBKAP,R696P |
|
|
2751 |
2749,TAS2R38,I296V |
|
|
2752 |
2750,TMEM67,F590S |
|
|
2753 |
2751,CC2D2A,R1528C |
|
|
2754 |
2752,CFTR,R560K |
|
|
2755 |
2753,OAT,L402P |
|
|
2756 |
2754,ITGA2B,I596T |
|
|
2757 |
2755,BEST1,Y227C |
|
|
2758 |
2756,MYO7A,R302H |
|
|
2759 |
2757,FBN2,C1253Y |
|
|
2760 |
2758,CRB1,C1181R |
|
|
2761 |
2759,TBX5,R237Q |
|
|
2762 |
2760,SCN5A,G514C |
|
|
2763 |
2761,NSDHL,A105V |
|
|
2764 |
2762,POMT2,V373F |
|
|
2765 |
2763,UPK3A,G202D |
|
|
2766 |
2764,PNKD,A9V |
|
|
2767 |
2765,KRAS,Q25H |
|
|
2768 |
2766,RDH12,H151N |
|
|
2769 |
2767,CAV3,A85T |
|
|
2770 |
2768,ADIPOQ,R112C |
|
|
2771 |
2769,FREM2,E1974K |
|
|
2772 |
2770,SLC12A1,D648N |
|
|
2773 |
2771,KIT,S709F |
|
|
2774 |
2772,MYH14,G384C |
|
|
2775 |
2773,IKBKG,null420W |
|
|
2776 |
2774,GDF5,M173V |
|
|
2777 |
2775,TFAP2B,R236S |
|
|
2778 |
2776,ACAD8,R302Q |
|
|
2779 |
2777,IGHMBP2,V580I |
|
|
2780 |
2778,MMP13,F75S |
|
|
2781 |
2779,BMPR2,C118W |
|
|
2782 |
2780,G6PD,L372F |
|
|
2783 |
2781,SAMD9,K1495E |
|
|
2784 |
2782,SPG7,G349S |
|
|
2785 |
2783,GALNS,I113F |
|
|
2786 |
2784,BRCA1,V1696L |
|
|
2787 |
2785,HMBS,H256N |
|
|
2788 |
2786,TSHR,D36H |
|
|
2789 |
2787,SMPD1,N385S |
|
|
2790 |
2788,B4GALT7,L206P |
|
|
2791 |
2789,F7,H408Q |
|
|
2792 |
2790,PAH,P281L |
|
|
2793 |
2791,MUT,G717V |
|
|
2794 |
2792,RHOA,Y34F |
|
|
2795 |
2793,LDLR,D224N |
|
|
2796 |
2794,HGD,M368V |
|
|
2797 |
2795,ASS1,R86C |
|
|
2798 |
2796,STAT5B,A630P |
|
|
2799 |
2797,SRY,G95E |
|
|
2800 |
2798,CYP11B1,R448H |
|
|
2801 |
2799,HFE,H63D |
|
|
2802 |
2800,SLC2A10,G426W |
|
|
2803 |
2801,PAH,S87R |
|
|
2804 |
2802,FGFR4,Y367C |
|
|
2805 |
2803,F8,Q584K |
|
|
2806 |
2804,NOD2,G908R |
|
|
2807 |
2805,ROBO3,G361E |
|
|
2808 |
2806,ACAT1,G183R |
|
|
2809 |
2807,WAS,L270P |
|
|
2810 |
2808,TECTA,C1057S |
|
|
2811 |
2809,CAV3,C72W |
|
|
2812 |
2810,ABCG8,P231T |
|
|
2813 |
2811,TNFRSF11B,F117L |
|
|
2814 |
2812,EVC,S307P |
|
|
2815 |
2813,KRT9,V171M |
|
|
2816 |
2814,AURKC,C210Y |
|
|
2817 |
2815,ABCA1,D1289N |
|
|
2818 |
2816,TWNK,R374W |
|
|
2819 |
2817,NPHS2,P20L |
|
|
2820 |
2818,AR,R727L |
|
|
2821 |
2819,AKR1D1,L106F |
|
|
2822 |
2820,GJB1,N205S |
|
|
2823 |
2821,HMGCS2,R458H |
|
|
2824 |
2822,G6PD,R489L |
|
|
2825 |
2823,NKX2-5,A119S |
|
|
2826 |
2824,ANKH,L391P |
|
|
2827 |
2825,F9,V228F |
|
|
2828 |
2826,MPLKIP,M144V |
|
|
2829 |
2827,GJB1,L156R |
|
|
2830 |
2828,PTS,R16C |
|
|
2831 |
2829,TGFBI,P501T |
|
|
2832 |
2830,F8,S577P |
|
|
2833 |
2831,F9,R191H |
|
|
2834 |
2832,SMN1,D44V |
|
|
2835 |
2833,GDAP1,R120W |
|
|
2836 |
2834,LRRK2,R1441C |
|
|
2837 |
2835,RNASEH2A,G37S |
|
|
2838 |
2836,TWIST1,S188L |
|
|
2839 |
2837,ATP2C1,C490F |
|
|
2840 |
2838,EFNB1,G151S |
|
|
2841 |
2839,MTOR,E2288K |
|
|
2842 |
2840,VANGL1,M328T |
|
|
2843 |
2841,WDR62,E526K |
|
|
2844 |
2842,IGHMBP2,E514K |
|
|
2845 |
2843,SYNE1,E8413K |
|
|
2846 |
2844,CRELD1,T311I |
|
|
2847 |
2845,VANGL1,R274Q |
|
|
2848 |
2846,KRT2,Q181P |
|
|
2849 |
2847,TWNK,R354P |
|
|
2850 |
2848,HYLS1,D211G |
|
|
2851 |
2849,MVK,I268T |
|
|
2852 |
2850,F8,F2120L |
|
|
2853 |
2851,F8,W2065R |
|
|
2854 |
2852,IKBKG,M407V |
|
|
2855 |
2853,TSHR,M453T |
|
|
2856 |
2854,CTSA,F458V |
|
|
2857 |
2855,PANK2,R286C |
|
|
2858 |
2856,F9,G363V |
|
|
2859 |
2857,BRCA1,R1443G |
|
|
2860 |
2858,ZIC3,P217A |
|
|
2861 |
2859,RP1L1,W960R |
|
|
2862 |
2860,ARSA,G247R |
|
|
2863 |
2861,L1CAM,V752M |
|
|
2864 |
2862,PDGFRB,RABEP1-PDGFRB Fusion |
|
|
2865 |
2863,TEK,R849W |
|
|
2866 |
2864,TUBA1A,L397P |
|
|
2867 |
2865,CAV3,S141R |
|
|
2868 |
2866,FBP1,P284R |
|
|
2869 |
2867,MASTL,E167D |
|
|
2870 |
2868,SCN9A,N641Y |
|
|
2871 |
2869,MSH2,G322D |
|
|
2872 |
2870,TSHR,L467P |
|
|
2873 |
2871,NLRP7,N913S |
|
|
2874 |
2872,NDP,Y44C |
|
|
2875 |
2873,PLEKHG5,F647S |
|
|
2876 |
2874,HPRT1,S110L |
|
|
2877 |
2875,GLA,A20P |
|
|
2878 |
2876,GHSR,R237W |
|
|
2879 |
2877,KRT86,E402Q |
|
|
2880 |
2878,COCH,V66G |
|
|
2881 |
2879,QDPR,W36R |
|
|
2882 |
2880,F8,E132D |
|
|
2883 |
2881,PAX3,N47H |
|
|
2884 |
2882,LPL,I221T |
|
|
2885 |
2883,ABCA4,V2050L |
|
|
2886 |
2884,EFHC1,R182H |
|
|
2887 |
2885,CA2,K18E |
|
|
2888 |
2886,TGFBI,R124H |
|
|
2889 |
2887,SLC6A5,Y491C |
|
|
2890 |
2888,LCAT,L233P |
|
|
2891 |
2889,HFE2,I222N |
|
|
2892 |
2890,STOX1,E608D |
|
|
2893 |
2891,PAH,Y277D |
|
|
2894 |
2892,RAD54L,P63H |
|
|
2895 |
2893,MYBPC3,T59A |
|
|
2896 |
2894,OTC,R277W |
|
|
2897 |
2895,MYOC,I477S |
|
|
2898 |
2896,CYP4F22,R243H |
|
|
2899 |
2897,TAB2,Q230K |
|
|
2900 |
2898,CBS,L539S |
|
|
2901 |
2899,CLDN16,T303R |
|
|
2902 |
2900,PEX26,R98W |
|
|
2903 |
2901,PIKFYVE,K1103R |
|
|
2904 |
2902,SETX,L389S |
|
|
2905 |
2903,SCN5A,D1595N |
|
|
2906 |
2904,KISS1R,R386P |
|
|
2907 |
2905,PLA2G7,I198T |
|
|
2908 |
2906,EYA1,S487P |
|
|
2909 |
2907,NR2E3,R76Q |
|
|
2910 |
2908,CYP27A1,T339M |
|
|
2911 |
2909,LBR,P569R |
|
|
2912 |
2910,ANTXR2,L329R |
|
|
2913 |
2911,SLC7A9,G259R |
|
|
2914 |
2912,RET,G885R |
|
|
2915 |
2913,PTPRD,G446E |
|
|
2916 |
2914,ARSA,T411I |
|
|
2917 |
2915,IRF6,R84C |
|
|
2918 |
2916,GPD1L,A280V |
|
|
2919 |
2917,AGA,G302R |
|
|
2920 |
2918,PROC,I445M |
|
|
2921 |
2919,IVD,R53C |
|
|
2922 |
2920,SMPD1,A484E |
|
|
2923 |
2921,MAT1A,I322M |
|
|
2924 |
2922,NKX2-5,R161P |
|
|
2925 |
2923,GLE1,R569H |
|
|
2926 |
2924,DHCR7,H119L |
|
|
2927 |
2925,CASR,R66C |
|
|
2928 |
2926,OTC,L111P |
|
|
2929 |
2927,KIF5A,R280C |
|
|
2930 |
2928,RRM2B,C236F |
|
|
2931 |
2929,F8,Y133C |
|
|
2932 |
2930,ADA,L152M |
|
|
2933 |
2931,GBA,V54L |
|
|
2934 |
2932,CCBE1,G327R |
|
|
2935 |
2933,MKKS,Y37C |
|
|
2936 |
2934,TPO,Q660E |
|
|
2937 |
2935,CYP17A1,S106P |
|
|
2938 |
2936,EMG1,D86G |
|
|
2939 |
2937,TRPC6,R895C |
|
|
2940 |
2938,F9,I344T |
|
|
2941 |
2939,CNGA3,R283W |
|
|
2942 |
2940,UBA1,M539I |
|
|
2943 |
2941,GNE,V572L |
|
|
2944 |
2942,NPC1,C177Y |
|
|
2945 |
2943,GDF1,G162D |
|
|
2946 |
2944,TAZ,C118R |
|
|
2947 |
2945,ACAD8,M152T |
|
|
2948 |
2946,TP63,C561G |
|
|
2949 |
2947,USH1G,L48P |
|
|
2950 |
2948,AR,P549S |
|
|
2951 |
2949,PAH,E390G |
|
|
2952 |
2950,PRPF8,R2310K |
|
|
2953 |
2951,F8,S2138Y |
|
|
2954 |
2952,CAV3,L79R |
|
|
2955 |
2953,NT5C3A,N229S |
|
|
2956 |
2954,TP63,R337Q |
|
|
2957 |
2955,CFTR,F1286S |
|
|
2958 |
2956,THAP1,K89R |
|
|
2959 |
2957,KHK,G40R |
|
|
2960 |
2958,VWF,R1341Q |
|
|
2961 |
2959,TP63,D351G |
|
|
2962 |
2960,VWF,C1149R |
|
|
2963 |
2961,CDAN1,R1042W |
|
|
2964 |
2962,LHX4,P388T |
|
|
2965 |
2963,BEST1,V235A |
|
|
2966 |
2964,FLNB,L171R |
|
|
2967 |
2965,KRT2,E476K |
|
|
2968 |
2966,KIF5A,Y276C |
|
|
2969 |
2967,TMIE,R92W |
|
|
2970 |
2968,TSC2,A328P |
|
|
2971 |
2969,EGLN1,P317R |
|
|
2972 |
2970,PCSK9,D374Y |
|
|
2973 |
2971,CUL7,H1464P |
|
|
2974 |
2972,GALT,N314D |
|
|
2975 |
2973,CBS,D444N |
|
|
2976 |
2974,PHEX,F252S |
|
|
2977 |
2975,NLRP3,G569R |
|
|
2978 |
2976,GNE,R263L |
|
|
2979 |
2977,MFRP,I182T |
|
|
2980 |
2978,SLC39A4,G330D |
|
|
2981 |
2979,ALX3,R196W |
|
|
2982 |
2980,STRA6,P90L |
|
|
2983 |
2981,MAP2K2,Y134H |
|
|
2984 |
2982,PAX3,G81A |
|
|
2985 |
2983,BEST1,V239M |
|
|
2986 |
2984,MED13L,E251G |
|
|
2987 |
2985,AGO2,A603fs |
|
|
2988 |
2986,JAG1,C234Y |
|
|
2989 |
2987,KLHL7,A153V |
|
|
2990 |
2988,PEX10,H310Q |
|
|
2991 |
2989,SMN1,G95R |
|
|
2992 |
2990,NKX2-1,V235F |
|
|
2993 |
2991,NOG,Y222D |
|
|
2994 |
2992,KCNJ10,R348C |
|
|
2995 |
2993,LDLR,C109S |
|
|
2996 |
2994,ARX,G286S |
|
|
2997 |
2995,NLRP3,L353P |
|
|
2998 |
2996,ECM1,F167I |
|
|
2999 |
2997,ARSA,D337V |
|
|
3000 |
2998,BBS2,G139V |
|
|
3001 |
2999,HESX1,Q6H |
|
|
3002 |
3000,RS1,E72D |
|
|
3003 |
3001,NPC1L1,I1233N |
|
|
3004 |
3002,KRAS,Y71H |
|
|
3005 |
3003,HPGD,A140P |
|
|
3006 |
3004,TWIST1,L131P |
|
|
3007 |
3005,OAT,G375A |
|
|
3008 |
3006,KCNE2,F60L |
|
|
3009 |
3007,UCP3,V102I |
|
|
3010 |
3008,GUSB,Y495C |
|
|
3011 |
3009,ESRRB,A110V |
|
|
3012 |
3010,CDKL5,C291Y |
|
|
3013 |
3011,SETBP1,D868A |
|
|
3014 |
3012,ZIC3,C253S |
|
|
3015 |
3013,SCNN1B,Y620H |
|
|
3016 |
3014,CYP17A1,R347H |
|
|
3017 |
3015,ITGB2,R593C |
|
|
3018 |
3016,NAT2,I114T |
|
|
3019 |
3017,TREX1,R114H |
|
|
3020 |
3018,ABCC6,G1321S |
|
|
3021 |
3019,HEXA,R178C |
|
|
3022 |
3020,KLF6,W64R |
|
|
3023 |
3021,CFTR,R1066H |
|
|
3024 |
3022,POLG2,G451E |
|
|
3025 |
3023,SIAE,C161F |
|
|
3026 |
3024,KIF1B,Q98L |
|
|
3027 |
3025,HMBS,G216D |
|
|
3028 |
3026,BCAM,R77H |
|
|
3029 |
3027,PDGFRA,D568N |
|
|
3030 |
3028,MYBPC3,R820Q |
|
|
3031 |
3029,LCT,Q268H |
|
|
3032 |
3030,BEST1,I205T |
|
|
3033 |
3031,VHL,V166F |
|
|
3034 |
3032,RPGRIP1L,A695P |
|
|
3035 |
3033,FGD1,P312L |
|
|
3036 |
3034,CCR2,V64I |
|
|
3037 |
3035,KCNJ11,C166F |
|
|
3038 |
3036,DGUOK,D255Y |
|
|
3039 |
3037,TMIE,R84W |
|
|
3040 |
3038,PMM2,V129M |
|
|
3041 |
3039,POMT2,G246D |
|
|
3042 |
3040,IL2RG,G114D |
|
|
3043 |
3041,ERBB2,L869R |
|
|
3044 |
3042,ANO5,A432G |
|
|
3045 |
3043,TSPAN12,G188R |
|
|
3046 |
3044,HSD17B3,C268Y |
|
|
3047 |
3045,NOD2,D382E |
|
|
3048 |
3046,F8,E291G |
|
|
3049 |
3047,FKTN,R307Q |
|
|
3050 |
3048,CDH23,D2148N |
|
|
3051 |
3049,SLC26A4,F667C |
|
|
3052 |
3050,MYO5B,R656C |
|
|
3053 |
3051,SI,L620P |
|
|
3054 |
3052,MKKS,T57A |
|
|
3055 |
3053,FZD4,W335C |
|
|
3056 |
3054,MATN3,C304S |
|
|
3057 |
3055,NCF1,G192S |
|
|
3058 |
3056,ARSA,P157R |
|
|
3059 |
3057,C1GALT1C1,D131E |
|
|
3060 |
3058,SERPINA7,L303F |
|
|
3061 |
3059,MBTPS2,H227L |
|
|
3062 |
3060,AVPR2,R137H |
|
|
3063 |
3061,BBS4,A364E |
|
|
3064 |
3062,CNNM4,L324P |
|
|
3065 |
3063,ASPA,E285A |
|
|
3066 |
3064,BUB1,S492Y |
|
|
3067 |
3065,SH3TC2,Y169H |
|
|
3068 |
3066,NOG,P35S |
|
|
3069 |
3067,CRELD1,R329C |
|
|
3070 |
3068,PRPF3,P493S |
|
|
3071 |
3069,NUP62,Q391P |
|
|
3072 |
3070,CFTR,S549R |
|
|
3073 |
3071,VDR,R274L |
|
|
3074 |
3072,FBXW7,Truncating Mutations |
|
|
3075 |
3073,SCN9A,V1298D |
|
|
3076 |
3074,DYNC2H1,T1987A |
|
|
3077 |
3075,CACNA1A,F1490S |
|
|
3078 |
3076,ANKH,P5L |
|
|
3079 |
3077,PAFAH1B1,S169P |
|
|
3080 |
3078,MMAB,R186W |
|
|
3081 |
3079,HPRT1,R51G |
|
|
3082 |
3080,NTRK1,G541R |
|
|
3083 |
3081,MYLK2,A95E |
|
|
3084 |
3082,BMPR2,R491W |
|
|
3085 |
3083,OGG1,R46Q |
|
|
3086 |
3084,DNMT3B,A603T |
|
|
3087 |
3085,HEXA,H204R |
|
|
3088 |
3086,PAH,I306V |
|
|
3089 |
3087,TGFBI,G623D |
|
|
3090 |
3088,LPL,P234L |
|
|
3091 |
3089,SCN5A,R1622Q |
|
|
3092 |
3090,SLC52A3,P28T |
|
|
3093 |
3091,PTS,D116G |
|
|
3094 |
3092,TLR1,N248S |
|
|
3095 |
3093,STS,S341L |
|
|
3096 |
3094,PDHA1,R302C |
|
|
3097 |
3095,HPRT1,R45K |
|
|
3098 |
3096,F9,C28R |
|
|
3099 |
3097,CASR,P39A |
|
|
3100 |
3098,SCN4A,V445M |
|
|
3101 |
3099,BMPR2,C347Y |
|
|
3102 |
3100,CTSA,G457S |
|
|
3103 |
3101,CYP17A1,Y329D |
|
|
3104 |
3102,HPD,I335M |
|
|
3105 |
3103,HR,V1136D |
|
|
3106 |
3104,NKX2-5,R216C |
|
|
3107 |
3105,ACVRL1,C344Y |
|
|
3108 |
3106,AVPR2,D85N |
|
|
3109 |
3107,RP2,R118H |
|
|
3110 |
3108,DNM2,G537C |
|
|
3111 |
3109,VHL,N150K |
|
|
3112 |
3110,AKR1D1,P133R |
|
|
3113 |
3111,MLC1,N141K |
|
|
3114 |
3112,NPHS2,R138Q |
|
|
3115 |
3113,PSEN2,S130L |
|
|
3116 |
3114,GJB4,R22H |
|
|
3117 |
3115,AGL,G1448R |
|
|
3118 |
3116,ALAS2,I476N |
|
|
3119 |
3117,TYR,N382K |
|
|
3120 |
3118,SLC19A3,K44E |
|
|
3121 |
3119,FKTN,Q358P |
|
|
3122 |
3120,MAP2K2,Q60P |
|
|
3123 |
3121,BTK,Y361C |
|
|
3124 |
3122,FBLN5,R351W |
|
|
3125 |
3123,MYH14,R767S |
|
|
3126 |
3124,PRSS1,R122C |
|
|
3127 |
3125,CHD7,S834F |
|
|
3128 |
3126,BRCA1,D1692Y |
|
|
3129 |
3127,KLHL7,A153T |
|
|
3130 |
3128,GALE,V94M |
|
|
3131 |
3129,TWIST1,I156V |
|
|
3132 |
3130,PRSS1,R122H |
|
|
3133 |
3131,ABCA1,A937V |
|
|
3134 |
3132,FGFR2,FGFR2-CIT Fusion |
|
|
3135 |
3133,SH2D1A,P101L |
|
|
3136 |
3134,POU3F4,A312V |
|
|
3137 |
3135,HPRT1,G70E |
|
|
3138 |
3136,SMAD3,Y226A |
|
|
3139 |
3137,MAT1A,L305P |
|
|
3140 |
3138,LDLR,A431T |
|
|
3141 |
3139,TSHR,P639S |
|
|
3142 |
3140,KRT9,N161Y |
|
|
3143 |
3141,TSC2,Y1571N |
|
|
3144 |
3142,SMN1,D30N |
|
|
3145 |
3143,LPL,A361T |
|
|
3146 |
3144,GJB3,R42P |
|
|
3147 |
3145,GLB1,R59H |
|
|
3148 |
3146,SLC39A4,G526R |
|
|
3149 |
3147,PALLD,P139S |
|
|
3150 |
3148,CLCNKB,Y432H |
|
|
3151 |
3149,SLC12A3,C421R |
|
|
3152 |
3150,SI,V577G |
|
|
3153 |
3151,ABCA4,L1201R |
|
|
3154 |
3152,PINK1,R279H |
|
|
3155 |
3153,GDF6,G42V |
|
|
3156 |
3154,DKC1,A353V |
|
|
3157 |
3155,F8,V181M |
|
|
3158 |
3156,IHH,T130N |
|
|
3159 |
3157,PLA2G7,V379A |
|
|
3160 |
3158,G6PD,F203L |
|
|
3161 |
3159,IRF6,P396S |
|
|
3162 |
3160,WAS,A236G |
|
|
3163 |
3161,TINF2,K280E |
|
|
3164 |
3162,BCAM,T539A |
|
|
3165 |
3163,SLC12A3,P349L |
|
|
3166 |
3164,CFTR,R553Q |
|
|
3167 |
3165,DHCR24,Y471S |
|
|
3168 |
3166,MED12,G44D |
|
|
3169 |
3167,MTM1,R241C |
|
|
3170 |
3168,PTPRT,S492F |
|
|
3171 |
3169,TBX1,F148Y |
|
|
3172 |
3170,ATP7B,A874V |
|
|
3173 |
3171,GAA,D645E |
|
|
3174 |
3172,FBP1,A177D |
|
|
3175 |
3173,KCNQ4,L281S |
|
|
3176 |
3174,G6PD,R493H |
|
|
3177 |
3175,PMP22,A67P |
|
|
3178 |
3176,HRAS,Q61R |
|
|
3179 |
3177,G6PD,Y352H |
|
|
3180 |
3178,F8,R2182C |
|
|
3181 |
3179,MANBA,S505P |
|
|
3182 |
3180,ATRX,R2131Q |
|
|
3183 |
3181,CLN6,G123D |
|
|
3184 |
3182,GDF5,S475N |
|
|
3185 |
3183,TMEM43,S358L |
|
|
3186 |
3184,G6PD,R228P |
|
|
3187 |
3185,CYP7B1,R486C |
|
|
3188 |
3186,TUBB1,R318W |
|
|
3189 |
3187,LRAT,S175R |
|
|
3190 |
3188,LRP5,A214T |
|
|
3191 |
3189,VAPB,P56S |
|
|
3192 |
3190,BRAF,S467A |
|
|
3193 |
3191,PDX1,E164D |
|
|
3194 |
3192,POMT2,T184M |
|
|
3195 |
3193,F8,R2178L |
|
|
3196 |
3194,BCKDHB,V119G |
|
|
3197 |
3195,TSPAN12,L101H |
|
|
3198 |
3196,TMPRSS2,TMPRSS2-ERG Fusion |
|
|
3199 |
3197,GALE,K257R |
|
|
3200 |
3198,GUCA1B,G157R |
|
|
3201 |
3199,HMGCS2,G212R |
|
|
3202 |
3200,SLURP1,W15R |
|
|
3203 |
3201,ELAC2,A541T |
|
|
3204 |
3202,NPC1L1,V55L |
|
|
3205 |
3203,NDUFS6,C115Y |
|
|
3206 |
3204,ATP8B1,I661T |
|
|
3207 |
3205,AIP,R304Q |
|
|
3208 |
3206,UBIAD1,S171P |
|
|
3209 |
3207,DMD,A3421V |
|
|
3210 |
3208,GDI1,R423P |
|
|
3211 |
3209,HSPB8,K141N |
|
|
3212 |
3210,AGXT,G41R |
|
|
3213 |
3211,ADSL,K246E |
|
|
3214 |
3212,NF2,L360P |
|
|
3215 |
3213,SLC22A5,R169W |
|
|
3216 |
3214,SCNN1B,N288S |
|
|
3217 |
3215,KIF21A,R954Q |
|
|
3218 |
3216,PRKN,V56E |
|
|
3219 |
3217,EFEMP1,R345W |
|
|
3220 |
3218,RBM20,R636H |
|
|
3221 |
3219,RAX2,R87Q |
|
|
3222 |
3220,HSD11B2,R208H |
|
|
3223 |
3221,LPL,C445Y |
|
|
3224 |
3222,CC2D2A,P1122S |
|
|
3225 |
3223,MEFV,E148V |
|
|
3226 |
3224,SCN5A,T220I |
|
|
3227 |
3225,WASHC5,N471D |
|
|
3228 |
3226,COMP,C348R |
|
|
3229 |
3227,SLC26A4,G209V |
|
|
3230 |
3228,GJB3,L34P |
|
|
3231 |
3229,CNGA3,G557R |
|
|
3232 |
3230,GJB3,N166S |
|
|
3233 |
3231,VANGL2,F437S |
|
|
3234 |
3232,CYBB,G389A |
|
|
3235 |
3233,CACNA1A,C287Y |
|
|
3236 |
3234,GLB1,R68W |
|
|
3237 |
3235,MCCC2,D280Y |
|
|
3238 |
3236,SIX5,A296T |
|
|
3239 |
3237,BEST1,L140V |
|
|
3240 |
3238,SLC6A8,G381R |
|
|
3241 |
3239,RDH12,H151D |
|
|
3242 |
3240,GLA,G328A |
|
|
3243 |
3241,POMT1,G76R |
|
|
3244 |
3242,VIM,E151K |
|
|
3245 |
3243,F8,R301L |
|
|
3246 |
3244,SPAST,S362C |
|
|
3247 |
3245,CDAN1,N599S |
|
|
3248 |
3246,UMOD,G103C |
|
|
3249 |
3247,ACADM,G267R |
|
|
3250 |
3248,SPAST,C448Y |
|
|
3251 |
3249,SC5D,R29Q |
|
|
3252 |
3250,HSPB1,R127W |
|
|
3253 |
3251,TREM2,K186N |
|
|
3254 |
3252,GNE,R266W |
|
|
3255 |
3253,PDHA1,R378H |
|
|
3256 |
3254,RAD54L,V444E |
|
|
3257 |
3255,LGI1,I122K |
|
|
3258 |
3256,BCKDHA,G249S |
|
|
3259 |
3257,FLNA,L656F |
|
|
3260 |
3258,MLH1,N551T |
|
|
3261 |
3259,AR,G744E |
|
|
3262 |
3260,ITGA2B,E355K |
|
|
3263 |
3261,SLC5A5,G543E |
|
|
3264 |
3262,GALT,L62M |
|
|
3265 |
3263,KCNQ2,Y284C |
|
|
3266 |
3264,PINK1,P399L |
|
|
3267 |
3265,GLA,A143T |
|
|
3268 |
3266,GALT,K285N |
|
|
3269 |
3267,SMPD1,W393G |
|
|
3270 |
3268,ALG8,T47P |
|
|
3271 |
3269,UMOD,C148Y |
|
|
3272 |
3270,BTK,V113D |
|
|
3273 |
3271,MYOC,C433R |
|
|
3274 |
3272,CASR,T151M |
|
|
3275 |
3273,HPRT1,L78V |
|
|
3276 |
3274,FZD4,M342V |
|
|
3277 |
3275,BTD,R538C |
|
|
3278 |
3276,EGFR,G465R |
|
|
3279 |
3277,GALT,Q188R |
|
|
3280 |
3278,GJB4,F137L |
|
|
3281 |
3279,VWF,G1324S |
|
|
3282 |
3280,SH3BP2,R415P |
|
|
3283 |
3281,COQ8A,G272V |
|
|
3284 |
3282,POU4F3,L289F |
|
|
3285 |
3283,GALT,H319Q |
|
|
3286 |
3284,SMN1,I116F |
|
|
3287 |
3285,FLNB,A173V |
|
|
3288 |
3286,MFN2,R468H |
|
|
3289 |
3287,MRPS22,R170H |
|
|
3290 |
3288,MYOT,S60C |
|
|
3291 |
3289,SHROOM4,S1089L |
|
|
3292 |
3290,AR,R841H |
|
|
3293 |
3291,GBA,T362I |
|
|
3294 |
3292,FBLN5,I169T |
|
|
3295 |
3293,ARSA,P427T |
|
|
3296 |
3294,ABCA12,G1179R |
|
|
3297 |
3295,NAGS,W484R |
|
|
3298 |
3296,SCNN1A,V114I |
|
|
3299 |
3297,TULP1,R420P |
|
|
3300 |
3298,DSG4,P267R |
|
|
3301 |
3299,ARSA,P233T |
|
|
3302 |
3300,STK11,D176N |
|
|
3303 |
3301,HFE,R330M |
|
|
3304 |
3302,CDH23,D2202N |
|
|
3305 |
3303,SUMF1,R349Q |
|
|
3306 |
3304,F11,F301L |
|
|
3307 |
3305,HEXA,V192L |
|
|
3308 |
3306,SMO,R562Q |
|
|
3309 |
3307,HGSNAT,R344C |
|
|
3310 |
3308,GAA,D91N |
|
|
3311 |
3309,MEFV,A744S |
|
|
3312 |
3310,ASS1,G14S |
|
|
3313 |
3311,IDUA,G409R |
|
|
3314 |
3312,WNT4,L12P |
|
|
3315 |
3313,TP53,Deletion |
|
|
3316 |
3314,F8,C329R |
|
|
3317 |
3315,SPTBN2,L253P |
|
|
3318 |
3316,SUGCT,R299W |
|
|
3319 |
3317,WFS1,P724L |
|
|
3320 |
3318,ALDH3A2,N386S |
|
|
3321 |
3319,MAN2B1,H72L |
|
|
3322 |
3320,FBN2,E391K |
|
|
3323 |
3321,COMP,C328R |
|
|
3324 |
3322,CDKN2A,P73L |
|
|
3325 |
3323,ALK,I1171S |
|
|
3326 |
3324,OTC,G162R |
|
|
3327 |
3325,LTBP4,C274G |
|
|
3328 |
3326,PGK1,L88P |
|
|
3329 |
3327,ABCG5,R419P |
|
|
3330 |
3328,ALK,F1174V |
|
|
3331 |
3329,DBH,V101M |
|
|
3332 |
3330,BCOR,Truncating Mutations |
|
|
3333 |
3331,PPARG,F360L |
|
|
3334 |
3332,GNE,A491V |
|
|
3335 |
3333,F8,S577F |
|
|
3336 |
3334,TNFRSF13B,R202H |
|
|
3337 |
3335,RAD51C,G125V |
|
|
3338 |
3336,HMBS,Q34K |
|
|
3339 |
3337,ARSA,P379L |
|
|
3340 |
3338,PHOX2B,R100L |
|
|
3341 |
3339,BTK,R562W |
|
|
3342 |
3340,CHMP4B,D129V |
|
|
3343 |
3341,SCNN1A,W493R |
|
|
3344 |
3342,RPGR,G173R |
|
|
3345 |
3343,GBA,R296Q |
|
|
3346 |
3344,DYSF,G299R |
|
|
3347 |
3345,CLCNKA,W80C |
|
|
3348 |
3346,ABCC8,P45L |
|
|
3349 |
3347,SLC1A3,C186S |
|
|
3350 |
3348,GCDH,R227P |
|
|
3351 |
3349,CHEK2,H371Y |
|
|
3352 |
3350,MCCC1,L437P |
|
|
3353 |
3351,KIT,D820Y |
|
|
3354 |
3352,COMP,D472Y |
|
|
3355 |
3353,ABCC6,R1459C |
|
|
3356 |
3354,RS1,C223R |
|
|
3357 |
3355,NDP,C69S |
|
|
3358 |
3356,DLD,R495G |
|
|
3359 |
3357,VWF,T791M |
|
|
3360 |
3358,TSHR,C390W |
|
|
3361 |
3359,RSPO4,C107R |
|
|
3362 |
3360,CDKN2A,R87W |
|
|
3363 |
3361,ACVRL1,M376R |
|
|
3364 |
3362,RAB7A,K157N |
|
|
3365 |
3363,RP1,N985Y |
|
|
3366 |
3364,CLDN16,S235F |
|
|
3367 |
3365,ACTN4,T259I |
|
|
3368 |
3366,NR3C2,L924P |
|
|
3369 |
3367,ABCC8,V86G |
|
|
3370 |
3368,LRP5,T253I |
|
|
3371 |
3369,TRPS1,R965H |
|
|
3372 |
3370,KCNJ2,D172N |
|
|
3373 |
3371,CBS,G307S |
|
|
3374 |
3372,KCNJ1,A179T |
|
|
3375 |
3373,RTN4R,R119W |
|
|
3376 |
3374,F8,S603I |
|
|
3377 |
3375,ANTXR2,I189T |
|
|
3378 |
3376,CYBA,A125T |
|
|
3379 |
3377,SRD5A2,A49T |
|
|
3380 |
3378,POU3F4,R323G |
|
|
3381 |
3379,PHGDH,V490M |
|
|
3382 |
3380,BRCA1,Y856H |
|
|
3383 |
3381,UMOD,C126R |
|
|
3384 |
3382,RSPO4,Q65R |
|
|
3385 |
3383,FKTN,F176S |
|
|
3386 |
3384,CFP,R100W |
|
|
3387 |
3385,EIF2B5,F56C |
|
|
3388 |
3386,PHYH,G204S |
|
|
3389 |
3387,PDGFRB,L658P |
|
|
3390 |
3388,ACADS,G92C |
|
|
3391 |
3389,IGF1R,G119T |
|
|
3392 |
3390,CACNA1H,A876T |
|
|
3393 |
3391,CANT1,R300C |
|
|
3394 |
3392,BRCA1,M1663L |
|
|
3395 |
3393,LPL,N318S |
|
|
3396 |
3394,CFI,D524V |
|
|
3397 |
3395,ACOX1,G178C |
|
|
3398 |
3396,EIF2B5,V309L |
|
|
3399 |
3397,EFHC1,F229L |
|
|
3400 |
3398,OCRL,R500Q |
|
|
3401 |
3399,SGSH,R74C |
|
|
3402 |
3400,ABCA12,R1514H |
|
|
3403 |
3401,NPHP3,S360T |
|
|
3404 |
3402,AR,V867L |
|
|
3405 |
3403,CTCF,H284Y |
|
|
3406 |
3404,G6PD,V243L |
|
|
3407 |
3405,F8,Y473H |
|
|
3408 |
3406,TRPV4,I331F |
|
|
3409 |
3407,PROC,L265F |
|
|
3410 |
3408,CARTPT,L61F |
|
|
3411 |
3409,SCN5A,R1232W |
|
|
3412 |
3410,SRY,I90M |
|
|
3413 |
3411,IGHMBP2,F369L |
|
|
3414 |
3412,DNM2,K562E |
|
|
3415 |
3413,COCH,G88E |
|
|
3416 |
3414,CRB1,G1103R |
|
|
3417 |
3415,ACAT1,N93S |
|
|
3418 |
3416,SHH,V224E |
|
|
3419 |
3417,RAPSN,L14P |
|
|
3420 |
3418,OPN1SW,S214P |
|
|
3421 |
3419,RPGR,T99N |
|
|
3422 |
3420,CYBB,P415H |
|
|
3423 |
3421,SCN5A,R1644H |
|
|
3424 |
3422,SCN4A,R669H |
|
|
3425 |
3423,MYOT,S55F |
|
|
3426 |
3424,TREX1,V256D |
|
|
3427 |
3425,CFTR,G551D |
|
|
3428 |
3426,TNFSF11,M126K |
|
|
3429 |
3427,ABCD1,N148S |
|
|
3430 |
3428,CDKN2A,A60R |
|
|
3431 |
3429,ATP2C1,L584P |
|
|
3432 |
3430,F8,A1853V |
|
|
3433 |
3431,CYBB,H303N |
|
|
3434 |
3432,CFI,G243D |
|
|
3435 |
3433,ALG12,G101R |
|
|
3436 |
3434,ICK,R272Q |
|
|
3437 |
3435,F8,P1873R |
|
|
3438 |
3436,DCTN1,G71R |
|
|
3439 |
3437,ZFPM2,S657G |
|
|
3440 |
3438,G6PD,P511R |
|
|
3441 |
3439,ARX,L33P |
|
|
3442 |
3440,VWF,R816W |
|
|
3443 |
3441,ABCB11,E297G |
|
|
3444 |
3442,UBIAD1,R119G |
|
|
3445 |
3443,PC,V145A |
|
|
3446 |
3444,MUSK,V790M |
|
|
3447 |
3445,KCNQ4,W276S |
|
|
3448 |
3446,TUFM,R339Q |
|
|
3449 |
3447,F12,Y53C |
|
|
3450 |
3448,ABCD1,S606L |
|
|
3451 |
3449,CLRN1,C40G |
|
|
3452 |
3450,GALNT3,T359K |
|
|
3453 |
3451,NDUFS2,P229Q |
|
|
3454 |
3452,BCKDHA,R265W |
|
|
3455 |
3453,F8,Q2265R |
|
|
3456 |
3454,OPCML,P88R |
|
|
3457 |
3455,XPA,C108F |
|
|
3458 |
3456,SCN4A,T1313M |
|
|
3459 |
3457,SLC4A11,T738M |
|
|
3460 |
3458,PNKD,A33P |
|
|
3461 |
3459,KHK,A43T |
|
|
3462 |
3460,TIMM8A,C66W |
|
|
3463 |
3461,PROC,R211W |
|
|
3464 |
3462,COQ2,S146N |
|
|
3465 |
3463,PKHD1,S3018F |
|
|
3466 |
3464,TSC2,I427M |
|
|
3467 |
3465,NPC1,T1036M |
|
|
3468 |
3466,STK11,W239C |
|
|
3469 |
3467,HPRT1,H204D |
|
|
3470 |
3468,BBS10,V11G |
|
|
3471 |
3469,DPYD,D974V |
|
|
3472 |
3470,KCNJ10,P194H |
|
|
3473 |
3471,RAB3GAP2,G1052C |
|
|
3474 |
3472,GARS,G294R |
|
|
3475 |
3473,AGA,S72P |
|
|
3476 |
3474,RPGR,P235S |
|
|
3477 |
3475,F9,C268W |
|
|
3478 |
3476,F9,G357E |
|
|
3479 |
3477,GARS,E125G |
|
|
3480 |
3478,NPHS1,V822M |
|
|
3481 |
3479,KCNJ11,R50P |
|
|
3482 |
3480,PLEC,R2110W |
|
|
3483 |
3481,F8,P2319S |
|
|
3484 |
3482,FA2H,D35Y |
|
|
3485 |
3483,CAV3,T78M |
|
|
3486 |
3484,PANK2,T528M |
|
|
3487 |
3485,ADAMTS13,Q448E |
|
|
3488 |
3486,PFKM,W757C |
|
|
3489 |
3487,OCA2,A334V |
|
|
3490 |
3488,SLC27A4,R583H |
|
|
3491 |
3489,ACVR1,Q207E |
|
|
3492 |
3490,SCN5A,T512I |
|
|
3493 |
3491,DARS2,S45G |
|
|
3494 |
3492,UMOD,C315R |
|
|
3495 |
3493,PAH,T380M |
|
|
3496 |
3494,SERPINA7,A211T |
|
|
3497 |
3495,CNGB3,S435F |
|
|
3498 |
3496,KCNQ1,S140G |
|
|
3499 |
3497,CACNB4,C104F |
|
|
3500 |
3498,CX3CR1,V281I |
|
|
3501 |
3499,RAF1,S257L |
|
|
3502 |
3500,PEX26,L45P |
|
|
3503 |
3501,TSHR,A553T |
|
|
3504 |
3502,JAG1,L37S |
|
|
3505 |
3503,F11,C56R |
|
|
3506 |
3504,CFTR,D648V |
|
|
3507 |
3505,MFN2,H165D |
|
|
3508 |
3506,SLC6A5,T425M |
|
|
3509 |
3507,ATRX,Y2163C |
|
|
3510 |
3508,SMPD1,M384I |
|
|
3511 |
3509,KIT,V559_G565del |
|
|
3512 |
3510,MMP13,H232N |
|
|
3513 |
3511,GAN,E486K |
|
|
3514 |
3512,CHST14,R135G |
|
|
3515 |
3513,SACS,A4074P |
|
|
3516 |
3514,PNKP,E326K |
|
|
3517 |
3515,GALK1,A198V |
|
|
3518 |
3516,ARID1A,Deletion |
|
|
3519 |
3517,G6PD,R423H |
|
|
3520 |
3518,SLC22A5,R399W |
|
|
3521 |
3519,PRSS1,N29I |
|
|
3522 |
3520,F11,G418V |
|
|
3523 |
3521,SLC40A1,N144H |
|
|
3524 |
3522,PROC,V76M |
|
|
3525 |
3523,PROKR2,Q210R |
|
|
3526 |
3524,SLC22A12,L418R |
|
|
3527 |
3525,ABCA4,P1780A |
|
|
3528 |
3526,MEFV,R761H |
|
|
3529 |
3527,ARSE,R111P |
|
|
3530 |
3528,TFAP2B,R236C |
|
|
3531 |
3529,ATM,S49C |
|
|
3532 |
3530,ABCA4,L2027F |
|
|
3533 |
3531,GJC2,M286T |
|
|
3534 |
3532,AIRE,G228W |
|
|
3535 |
3533,OAT,R271K |
|
|
3536 |
3534,TREX1,D255N |
|
|
3537 |
3535,SLC40A1,Q182H |
|
|
3538 |
3536,BRIP1,R798* |
|
|
3539 |
3537,RBM20,R634Q |
|
|
3540 |
3538,BRCA2,C3198R |
|
|
3541 |
3539,F9,S406L |
|
|
3542 |
3540,GCNT2,A169T |
|
|
3543 |
3541,CFTR,F508C |
|
|
3544 |
3542,RET,A919P |
|
|
3545 |
3543,AR,R608Q |
|
|
3546 |
3544,NUBPL,G56R |
|
|
3547 |
3545,PMS2,P470S |
|
|
3548 |
3546,LPL,G222E |
|
|
3549 |
3547,B3GLCT,G393E |
|
|
3550 |
3548,TUBB3,D417N |
|
|
3551 |
3549,GCH1,G201E |
|
|
3552 |
3550,ADA,L304R |
|
|
3553 |
3551,VWF,Y1584C |
|
|
3554 |
3552,CFTR,P574H |
|
|
3555 |
3553,EIF2B5,T91A |
|
|
3556 |
3554,GBA,N409S |
|
|
3557 |
3555,EPAS1,G537R |
|
|
3558 |
3556,CASR,F788L |
|
|
3559 |
3557,GCH1,G108D |
|
|
3560 |
3558,EGFR,D761N |
|
|
3561 |
3559,SELENON,G315S |
|
|
3562 |
3560,GFM1,N174S |
|
|
3563 |
3561,DTNA,P121L |
|
|
3564 |
3562,NPHP3,R973Q |
|
|
3565 |
3563,RAB27A,L130P |
|
|
3566 |
3564,MFN2,R280H |
|
|
3567 |
3565,PARK7,M26I |
|
|
3568 |
3566,PTCH1,S827G |
|
|
3569 |
3567,SLC6A8,C491W |
|
|
3570 |
3568,F8,D1865N |
|
|
3571 |
3569,CASP10,L285F |
|
|
3572 |
3570,ACADS,G90S |
|
|
3573 |
3571,PRPF8,P2301T |
|
|
3574 |
3572,LRP4,C160Y |
|
|
3575 |
3573,CLDN16,L151F |
|
|
3576 |
3574,NOTCH1,I1718T |
|
|
3577 |
3575,SCN4A,M1476I |
|
|
3578 |
3576,TWNK,K319E |
|
|
3579 |
3577,BEST1,V9M |
|
|
3580 |
3578,CTSK,null330W |
|
|
3581 |
3579,BRCA2,R2108H |
|
|
3582 |
3580,ALK,T1151R |
|
|
3583 |
3581,CPT2,Y120C |
|
|
3584 |
3582,HPRT1,T168I |
|
|
3585 |
3583,PTS,P87S |
|
|
3586 |
3584,PINK1,G309D |
|
|
3587 |
3585,GLB1,Y316C |
|
|
3588 |
3586,KIT,V530I |
|
|
3589 |
3587,NPC1,G992W |
|
|
3590 |
3588,SH3BP2,G420E |
|
|
3591 |
3589,HFE,V53M |
|
|
3592 |
3590,LDLR,C261F |
|
|
3593 |
3591,KRT9,N161S |
|
|
3594 |
3592,AKAP10,I646V |
|
|
3595 |
3593,ATM,F2827C |
|
|
3596 |
3594,PLP1,P216S |
|
|
3597 |
3595,TNFRSF11A,A244S |
|
|
3598 |
3596,TCN2,R259P |
|
|
3599 |
3597,PEX1,L664P |
|
|
3600 |
3598,ADGRG1,R38W |
|
|
3601 |
3599,EVC,R443Q |
|
|
3602 |
3600,HSD3B2,A10E |
|
|
3603 |
3601,NPHS2,R229Q |
|
|
3604 |
3602,KCNQ2,R214W |
|
|
3605 |
3603,PDHA1,M282L |
|
|
3606 |
3604,GPC3,H121Y |
|
|
3607 |
3605,ZFPM2,T843A |
|
|
3608 |
3606,U2AF1,Q157R |
|
|
3609 |
3607,ABCB11,R432T |
|
|
3610 |
3608,SPAST,I406V |
|
|
3611 |
3609,AVPR2,A132D |
|
|
3612 |
3610,MECP2,L100V |
|
|
3613 |
3611,HPRT1,M57T |
|
|
3614 |
3612,GALT,L74P |
|
|
3615 |
3613,SLC25A15,R275Q |
|
|
3616 |
3614,ADA,A215T |
|
|
3617 |
3615,SCN4A,R672S |
|
|
3618 |
3616,EDA,R69L |
|
|
3619 |
3617,MLH1,R226* |
|
|
3620 |
3618,NOTCH3,A63T |
|
|
3621 |
3619,SAR1B,D137N |
|
|
3622 |
3620,PMM2,N216I |
|
|
3623 |
3621,PHGDH,G377S |
|
|
3624 |
3622,CYBB,H101Y |
|
|
3625 |
3623,VWF,R1308C |
|
|
3626 |
3624,HTRA1,V297M |
|
|
3627 |
3625,RIMS1,R820H |
|
|
3628 |
3626,F8,G1769R |
|
|
3629 |
3627,SLC12A3,T163M |
|
|
3630 |
3628,CBX2,R443P |
|
|
3631 |
3629,TSHR,L629F |
|
|
3632 |
3630,GBA,F290L |
|
|
3633 |
3631,NAGLU,R674H |
|
|
3634 |
3632,NDUFS2,R228Q |
|
|
3635 |
3633,CYP17A1,R347C |
|
|
3636 |
3634,VWF,S1613P |
|
|
3637 |
3635,PKHD1,S1664F |
|
|
3638 |
3636,WT1,H441Q |
|
|
3639 |
3637,FLNA,G1728C |
|
|
3640 |
3638,DHH,L162P |
|
|
3641 |
3639,OXCT1,G219E |
|
|
3642 |
3640,KCNJ11,I167L |
|
|
3643 |
3641,PAFAH1B1,F31S |
|
|
3644 |
3642,MYO5B,V108G |
|
|
3645 |
3643,PDGFRL,H23Y |
|
|
3646 |
3644,DMD,H2921R |
|
|
3647 |
3645,SLC39A4,N106K |
|
|
3648 |
3646,GARS,G580R |
|
|
3649 |
3647,CFTR,A561E |
|
|
3650 |
3648,UMPS,R96G |
|
|
3651 |
3649,ACADM,K333E |
|
|
3652 |
3650,INPP5E,R515W |
|
|
3653 |
3651,CACNA1H,G773D |
|
|
3654 |
3652,KCNQ1,R243P |
|
|
3655 |
3653,IVD,A314V |
|
|
3656 |
3654,PTEN,D24N |
|
|
3657 |
3655,PAH,Y414C |
|
|
3658 |
3656,JAK3,Y100C |
|
|
3659 |
3657,NDUFS8,R102H |
|
|
3660 |
3658,DNMT3A,R882H |
|
|
3661 |
3659,CYP17A1,R416H |
|
|
3662 |
3660,PAK3,W446S |
|
|
3663 |
3661,NPHS1,C265R |
|
|
3664 |
3662,GRIA3,M706T |
|
|
3665 |
3663,SLC11A2,E428D |
|
|
3666 |
3664,IDUA,R492P |
|
|
3667 |
3665,TNFRSF11B,C87Y |
|
|
3668 |
3666,SMC1A,E493A |
|
|
3669 |
3667,CNGA3,R436W |
|
|
3670 |
3668,CABP4,R124C |
|
|
3671 |
3669,LFNG,F188L |
|
|
3672 |
3670,SDHA,G555E |
|
|
3673 |
3671,CHD7,H55R |
|
|
3674 |
3672,GATA1,D218Y |
|
|
3675 |
3673,FGFR2,H213Y |
|
|
3676 |
3674,PROC,P210L |
|
|
3677 |
3675,GBE1,F257L |
|
|
3678 |
3676,OAT,A270P |
|
|
3679 |
3677,STRA6,T644M |
|
|
3680 |
3678,UNC13D,L403P |
|
|
3681 |
3679,BPGM,R90C |
|
|
3682 |
3680,SLC5A5,Q267E |
|
|
3683 |
3681,F8,Y1728C |
|
|
3684 |
3682,ADA,D8N |
|
|
3685 |
3683,DNAH5,G3519R |
|
|
3686 |
3684,AICDA,L106P |
|
|
3687 |
3685,UBIAD1,G177R |
|
|
3688 |
3686,PITX1,E130K |
|
|
3689 |
3687,CSNK1D,T44A |
|
|
3690 |
3688,PPARG,P85Q |
|
|
3691 |
3689,TGFB1,Y81H |
|
|
3692 |
3690,ACADVL,A416T |
|
|
3693 |
3691,PPOX,P256R |
|
|
3694 |
3692,RS1,R102Q |
|
|
3695 |
3693,PHOX2B,R141G |
|
|
3696 |
3694,TRPV4,A716S |
|
|
3697 |
3695,ATG16L1,T300A |
|
|
3698 |
3696,ADGRV1,Y6044C |
|
|
3699 |
3697,ALG1,S258L |
|
|
3700 |
3698,GK,N294D |
|
|
3701 |
3699,COL4A5,L1649R |
|
|
3702 |
3700,ABCC11,G180R |
|
|
3703 |
3701,GLB1,W273L |
|
|
3704 |
3702,ESPN,S719R |
|
|
3705 |
3703,SLC25A38,R187P |
|
|
3706 |
3704,AGXT,P11L |
|
|
3707 |
3705,KCNJ2,R67W |
|
|
3708 |
3706,GCH1,M221T |
|
|
3709 |
3707,GALT,V44M |
|
|
3710 |
3708,GLB1,T82M |
|
|
3711 |
3709,F8,P2319L |
|
|
3712 |
3710,TWNK,T457I |
|
|
3713 |
3711,VWF,I1628T |
|
|
3714 |
3712,F8,G164V |
|
|
3715 |
3713,RBM20,P638L |
|
|
3716 |
3714,MC2R,D107N |
|
|
3717 |
3715,ASL,R379C |
|
|
3718 |
3716,MTOR,R2505P |
|
|
3719 |
3717,PMP22,G150C |
|
|
3720 |
3718,F9,E79D |
|
|
3721 |
3719,CHST14,Y293C |
|
|
3722 |
3720,SCO2,S225F |
|
|
3723 |
3721,RBM28,L351P |
|
|
3724 |
3722,SLC9A3R1,E225K |
|
|
3725 |
3723,HSD3B2,P222T |
|
|
3726 |
3724,SHH,I111F |
|
|
3727 |
3725,HMGCS2,F174L |
|
|
3728 |
3726,SLC16A2,A150V |
|
|
3729 |
3727,F9,E27K |
|
|
3730 |
3728,ERBB2,R896C |
|
|
3731 |
3729,ADAMTSL2,E114K |
|
|
3732 |
3730,KCNJ18,T354M |
|
|
3733 |
3731,ABCC6,R1114P |
|
|
3734 |
3732,GJB3,C86S |
|
|
3735 |
3733,NHLRC1,C26S |
|
|
3736 |
3734,G6PC,G184E |
|
|
3737 |
3735,CLDN16,F232C |
|
|
3738 |
3736,VPS13B,N2993S |
|
|
3739 |
3737,SRPX2,Y72S |
|
|
3740 |
3738,KRIT1,Q201E |
|
|
3741 |
3739,DYNC2H1,G2461V |
|
|
3742 |
3740,SLC7A9,Y232C |
|
|
3743 |
3741,PLP1,F237S |
|
|
3744 |
3742,F8,A663V |
|
|
3745 |
3743,GIGYF2,K421R |
|
|
3746 |
3744,HYAL1,E268K |
|
|
3747 |
3745,ERBB2,T862A |
|
|
3748 |
3746,KCNJ11,K170N |
|
|
3749 |
3747,FLNA,G288R |
|
|
3750 |
3748,CACNA1A,V714A |
|
|
3751 |
3749,LCAT,T345M |
|
|
3752 |
3750,AMT,R320H |
|
|
3753 |
3751,ACADS,R107C |
|
|
3754 |
3752,PPP2R1A,S256Y |
|
|
3755 |
3753,DYSF,W999C |
|
|
3756 |
3754,HGD,V300G |
|
|
3757 |
3755,ETFA,V157G |
|
|
3758 |
3756,HSD17B3,A203V |
|
|
3759 |
3757,ASS1,S18L |
|
|
3760 |
3758,CHMP4B,E161K |
|
|
3761 |
3759,VWF,V1316M |
|
|
3762 |
3760,MLPH,R35W |
|
|
3763 |
3761,FECH,V368G |
|
|
3764 |
3762,GLA,Q327K |
|
|
3765 |
3763,UGT1A1,L15R |
|
|
3766 |
3764,GLA,N215S |
|
|
3767 |
3765,TPCN2,G734E |
|
|
3768 |
3766,FAH,Q279R |
|
|
3769 |
3767,F8,C329Y |
|
|
3770 |
3768,PAX6,F258S |
|
|
3771 |
3769,MCCC2,I437V |
|
|
3772 |
3770,LRRK2,R1441G |
|
|
3773 |
3771,AR,I870M |
|
|
3774 |
3772,SLC17A8,A211V |
|
|
3775 |
3773,SUCLA2,R284C |
|
|
3776 |
3774,SEMA4A,F350C |
|
|
3777 |
3775,FOXP3,F371C |
|
|
3778 |
3776,LRP2,Y2522H |
|
|
3779 |
3777,SMARCAL1,R645C |
|
|
3780 |
3778,TRPC6,P112Q |
|
|
3781 |
3779,ARSA,A214V |
|
|
3782 |
3780,UBA1,S547G |
|
|
3783 |
3781,BEST1,D228N |
|
|
3784 |
3782,F9,V374F |
|
|
3785 |
3783,FANCD2,R302W |
|
|
3786 |
3784,OAT,P199Q |
|
|
3787 |
3785,DMD,L54R |
|
|
3788 |
3786,WFS1,A716T |
|
|
3789 |
3787,NHEJ1,C123R |
|
|
3790 |
3788,VWF,G550R |
|
|
3791 |
3789,MVK,A334T |
|
|
3792 |
3790,VWF,W1313C |
|
|
3793 |
3791,TYR,V275F |
|
|
3794 |
3792,SPTLC1,V144D |
|
|
3795 |
3793,PTCH1,R1114W |
|
|
3796 |
3794,SLC52A3,V413A |
|
|
3797 |
3795,VHL,V130L |
|
|
3798 |
3796,RAI1,Q1562R |
|
|
3799 |
3797,NIPBL,Y2430C |
|
|
3800 |
3798,F9,R75Q |
|
|
3801 |
3799,RAB27A,W73G |
|
|
3802 |
3800,TARDBP,G290A |
|
|
3803 |
3801,IDH3B,L132P |
|
|
3804 |
3802,SETX,R2136H |
|
|
3805 |
3803,CDKN2A,G89S |
|
|
3806 |
3804,RDH5,A294P |
|
|
3807 |
3805,GCM2,G63S |
|
|
3808 |
3806,TGM5,G113C |
|
|
3809 |
3807,EIF2B2,E213G |
|
|
3810 |
3808,PAH,A322G |
|
|
3811 |
3809,GBE1,L224P |
|
|
3812 |
3810,PRKN,A82E |
|
|
3813 |
3811,F8,R550G |
|
|
3814 |
3812,TUBA1A,R422H |
|
|
3815 |
3813,IRF6,A2V |
|
|
3816 |
3814,APC,S1395C |
|
|
3817 |
3815,F8,S308L |
|
|
3818 |
3816,KMT2D,R5179H |
|
|
3819 |
3817,EFEMP2,E57K |
|
|
3820 |
3818,GCH1,P199A |
|
|
3821 |
3819,NPHS2,R291W |
|
|
3822 |
3820,GJB1,S85C |
|
|
3823 |
3821,PLA2G6,A80T |
|
|
3824 |
3822,USH2A,C319Y |
|
|
3825 |
3823,SLC16A2,L438P |
|
|
3826 |
3824,NEU1,G243R |
|
|
3827 |
3825,GLA,D266V |
|
|
3828 |
3826,OCLN,F219S |
|
|
3829 |
3827,MGAT2,S290F |
|
|
3830 |
3828,ACADSB,L255F |
|
|
3831 |
3829,SMAD3,Truncating Mutations |
|
|
3832 |
3830,DBT,null483L |
|
|
3833 |
3831,PIGV,A341V |
|
|
3834 |
3832,ASXL2,Deletion |
|
|
3835 |
3833,DLL3,G385D |
|
|
3836 |
3834,SMS,V132G |
|
|
3837 |
3835,SLC4A11,E383K |
|
|
3838 |
3836,DHCR7,Y280C |
|
|
3839 |
3837,FUCA1,Q286R |
|
|
3840 |
3838,GDAP1,P231L |
|
|
3841 |
3839,TWNK,R334Q |
|
|
3842 |
3840,OTC,R94T |
|
|
3843 |
3841,EPHB2,D679N |
|
|
3844 |
3842,ERMAP,P60A |
|
|
3845 |
3843,SLC12A1,V272F |
|
|
3846 |
3844,UGT1A1,S375F |
|
|
3847 |
3845,FCGR2B,I232T |
|
|
3848 |
3846,SMPD1,G579S |
|
|
3849 |
3847,ABCA4,R943Q |
|
|
3850 |
3848,GP1BA,A172V |
|
|
3851 |
3849,AR,R856H |
|
|
3852 |
3850,IDS,C422G |
|
|
3853 |
3851,SLC4A4,R554H |
|
|
3854 |
3852,WASHC5,V626F |
|
|
3855 |
3853,MOCS2,V7F |
|
|
3856 |
3854,LCAT,W170R |
|
|
3857 |
3855,TPH2,R441H |
|
|
3858 |
3856,TSHR,R310C |
|
|
3859 |
3857,KDM5C,A388P |
|
|
3860 |
3858,TMPRSS3,W251C |
|
|
3861 |
3859,PLP1,G74R |
|
|
3862 |
3860,F8,T1845P |
|
|
3863 |
3861,FGF10,C106F |
|
|
3864 |
3862,FKRP,V405L |
|
|
3865 |
3863,CTSA,V150M |
|
|
3866 |
3864,DPYS,Q334R |
|
|
3867 |
3865,GALT,F194L |
|
|
3868 |
3866,TGFBI,R555W |
|
|
3869 |
3867,CPS1,T544M |
|
|
3870 |
3868,ANKH,P5T |
|
|
3871 |
3869,CAV3,F97C |
|
|
3872 |
3870,ATL1,M408V |
|
|
3873 |
3871,BBS1,L518P |
|
|
3874 |
3872,KCNJ18,R205H |
|
|
3875 |
3873,PTEN,G36R |
|
|
3876 |
3874,ACADM,T193A |
|
|
3877 |
3875,L1CAM,H210Q |
|
|
3878 |
3876,HPRT1,D52G |
|
|
3879 |
3877,NTRK2,Y722C |
|
|
3880 |
3878,CFTR,R1066C |
|
|
3881 |
3879,ATP6V0A4,R807Q |
|
|
3882 |
3880,SCN4A,R675Q |
|
|
3883 |
3881,CAV3,A46T |
|
|
3884 |
3882,PHF6,C99F |
|
|
3885 |
3883,HEXA,F211S |
|
|
3886 |
3884,ALAS2,F165L |
|
|
3887 |
3885,USH1C,V130I |
|
|
3888 |
3886,CDKL5,T288I |
|
|
3889 |
3887,ABCA3,Q1591P |
|
|
3890 |
3888,GJB1,I30N |
|
|
3891 |
3889,BRCA1,M1628T |
|
|
3892 |
3890,RNASEH2C,R69W |
|
|
3893 |
3891,PCSK9,R46L |
|
|
3894 |
3892,F8,L431F |
|
|
3895 |
3893,TULP1,I459K |
|
|
3896 |
3894,NEXN,Y652C |
|
|
3897 |
3895,OTC,K46R |
|
|
3898 |
3896,IL2RG,L151P |
|
|
3899 |
3897,PHKA1,D299V |
|
|
3900 |
3898,FGF10,R80S |
|
|
3901 |
3899,RNASEH2C,K143I |
|
|
3902 |
3900,DHCR7,R352Q |
|
|
3903 |
3901,PIK3CA,E453K |
|
|
3904 |
3902,CFTR,V520F |
|
|
3905 |
3903,G6PD,D88N |
|
|
3906 |
3904,IDUA,T364M |
|
|
3907 |
3905,MYOC,Q337R |
|
|
3908 |
3906,MFN2,P251A |
|
|
3909 |
3907,CCND1,Y44D |
|
|
3910 |
3908,ALK,M1166R |
|
|
3911 |
3909,B3GALNT1,G271R |
|
|
3912 |
3910,SMPD1,H423Y |
|
|
3913 |
3911,PAH,E280K |
|
|
3914 |
3912,BCS1L,R184C |
|
|
3915 |
3913,UROC1,R510C |
|
|
3916 |
3914,LZTS1,S29P |
|
|
3917 |
3915,GFI1,N382S |
|
|
3918 |
3916,GUCY2D,R838H |
|
|
3919 |
3917,MTHFR,N324S |
|
|
3920 |
3918,KCNE2,R27C |
|
|
3921 |
3919,SI,C1229Y |
|
|
3922 |
3920,GHR,E242D |
|
|
3923 |
3921,CFTR,I506V |
|
|
3924 |
3922,ABCC6,R1268Q |
|
|
3925 |
3923,TBX4,Q531R |
|
|
3926 |
3924,F11,K270I |
|
|
3927 |
3925,ATIC,K426R |
|
|
3928 |
3926,RAC2,D57N |
|
|
3929 |
3927,PRSS1,A121T |
|
|
3930 |
3928,BMPR1A,C376Y |
|
|
3931 |
3929,TNFRSF11A,C175R |
|
|
3932 |
3930,G6PD,G440C |
|
|
3933 |
3931,HEXA,L127R |
|
|
3934 |
3932,GAA,G643R |
|
|
3935 |
3933,SLC26A4,K369E |
|
|
3936 |
3934,SMN1,S262I |
|
|
3937 |
3935,F8,C198G |
|
|
3938 |
3936,ABCC6,R1339C |
|
|
3939 |
3937,F9,C252S |
|
|
3940 |
3938,DARS2,C152F |
|
|
3941 |
3939,PITX2,R62H |
|
|
3942 |
3940,VHL,L135F |
|
|
3943 |
3941,STAR,R217T |
|
|
3944 |
3942,COL4A5,G54D |
|
|
3945 |
3943,OXCT1,G324E |
|
|
3946 |
3944,BUB1B,L844F |
|
|
3947 |
3945,SCN5A,V232I |
|
|
3948 |
3946,LRP4,D529N |
|
|
3949 |
3947,INVS,L493S |
|
|
3950 |
3948,GALE,L183P |
|
|
3951 |
3949,TSC1,H732Y |
|
|
3952 |
3950,NODAL,G260R |
|
|
3953 |
3951,CASR,E604K |
|
|
3954 |
3952,PRKAG2,S548P |
|
|
3955 |
3953,AR,M781I |
|
|
3956 |
3954,WT1,S341G |
|
|
3957 |
3955,GLA,C56G |
|
|
3958 |
3956,F9,N306S |
|
|
3959 |
3957,ERBB2,G292R |
|
|
3960 |
3958,F12,T328K |
|
|
3961 |
3959,CASR,A843E |
|
|
3962 |
3960,F8,R2323C |
|
|
3963 |
3961,SLC26A4,T416P |
|
|
3964 |
3962,DLD,K72E |
|
|
3965 |
3963,ACADSB,T148I |
|
|
3966 |
3964,CILP,I395T |
|
|
3967 |
3965,F8,R391H |
|
|
3968 |
3966,MCOLN1,D362Y |
|
|
3969 |
3967,PMM2,I132T |
|
|
3970 |
3968,SLC27A4,A92T |
|
|
3971 |
3969,HOGA1,C257G |
|
|
3972 |
3970,OXCT1,T58M |
|
|
3973 |
3971,MLC1,G59E |
|
|
3974 |
3972,VWF,C2362F |
|
|
3975 |
3973,MECP2,R306C |
|
|
3976 |
3974,OLR1,K167N |
|
|
3977 |
3975,ABCA4,A1028V |
|
|
3978 |
3976,TDP1,H493R |
|
|
3979 |
3977,SMN1,Y272C |
|
|
3980 |
3978,PEX26,G89R |
|
|
3981 |
3979,SLC12A3,L623P |
|
|
3982 |
3980,MATN3,R70H |
|
|
3983 |
3981,FAH,R381G |
|
|
3984 |
3982,NKX2-5,A219V |
|
|
3985 |
3983,G6PD,N156D |
|
|
3986 |
3984,IHH,E131K |
|
|
3987 |
3985,PRPF31,A216P |
|
|
3988 |
3986,TSEN34,R58W |
|
|
3989 |
3987,LPL,D36N |
|
|
3990 |
3988,TRPM4,E7K |
|
|
3991 |
3989,CPS1,H337R |
|
|
3992 |
3990,CRB1,I1100R |
|
|
3993 |
3991,DPM3,L85S |
|
|
3994 |
3992,GAA,G293R |
|
|
3995 |
3993,KCNJ1,D89H |
|
|
3996 |
3994,OTOF,R1939Q |
|
|
3997 |
3995,C7,R521S |
|
|
3998 |
3996,BRCA1,A1752G |
|
|
3999 |
3997,FGFR2,Amplification |
|
|
4000 |
3998,KCNJ1,S200R |
|
|
4001 |
3999,ARSA,N352S |
|
|
4002 |
4000,NDUFS7,R145H |
|
|
4003 |
4001,MC2R,R128C |
|
|
4004 |
4002,ATP8B1,L288S |
|
|
4005 |
4003,CYBB,D500G |
|
|
4006 |
4004,WISP3,C78R |
|
|
4007 |
4005,VPS33B,L30P |
|
|
4008 |
4006,SOX10,Q174P |
|
|
4009 |
4007,CDKN2A,G122R |
|
|
4010 |
4008,LMX1B,N269K |
|
|
4011 |
4009,F5,R334G |
|
|
4012 |
4010,GALNS,N204K |
|
|
4013 |
4011,G6PC3,G262R |
|
|
4014 |
4012,CFTR,L1065P |
|
|
4015 |
4013,HFE2,G320V |
|
|
4016 |
4014,PKLR,Q421K |
|
|
4017 |
4015,COL4A5,G1143D |
|
|
4018 |
4016,CYBA,G24R |
|
|
4019 |
4017,NTRK2,R734C |
|
|
4020 |
4018,NOD2,A612T |
|
|
4021 |
4019,TRPC6,E897K |
|
|
4022 |
4020,MLH1,D737V |
|
|
4023 |
4021,SRD5A2,P212R |
|
|
4024 |
4022,UCHL1,S18Y |
|
|
4025 |
4023,PAX6,T391A |
|
|
4026 |
4024,CASR,L13P |
|
|
4027 |
4025,ANOS1,S396L |
|
|
4028 |
4026,SCNN1B,P617S |
|
|
4029 |
4027,GNPTAB,K4Q |
|
|
4030 |
4028,CFL2,A35T |
|
|
4031 |
4029,MSH2,H639Y |
|
|
4032 |
4030,HESX1,S170L |
|
|
4033 |
4031,KLF6,S116P |
|
|
4034 |
4032,FANCD2,R1236H |
|
|
4035 |
4033,SLC27A4,S247P |
|
|
4036 |
4034,CYP7B1,F470I |
|
|
4037 |
4035,ADA,S291L |
|
|
4038 |
4036,EGFR,D770_N771insSVD |
|
|
4039 |
4037,TPO,Y453D |
|
|
4040 |
4038,SLC6A5,L306V |
|
|
4041 |
4039,SCN4A,R1448C |
|
|
4042 |
4040,F8,H1980Y |
|
|
4043 |
4041,ALAS2,R411C |
|
|
4044 |
4042,MYOC,N480K |
|
|
4045 |
4043,IGFALS,C540R |
|
|
4046 |
4044,ATP8B1,D554N |
|
|
4047 |
4045,LDLRAP1,S202Y |
|
|
4048 |
4046,GHR,C112S |
|
|
4049 |
4047,RAB7A,L129F |
|
|
4050 |
4048,SEC23B,R530W |
|
|
4051 |
4049,VKORC1,L128R |
|
|
4052 |
4050,BCS1L,V353M |
|
|
4053 |
4051,BCKDHA,F409C |
|
|
4054 |
4052,PLP1,A242V |
|
|
4055 |
4053,NOD2,H496L |
|
|
4056 |
4054,LPL,R270C |
|
|
4057 |
4055,ARG1,T290S |
|
|
4058 |
4056,ABCB7,E434K |
|
|
4059 |
4057,LHX3,A210V |
|
|
4060 |
4058,G6PC,D38V |
|
|
4061 |
4059,BBS2,R315W |
|
|
4062 |
4060,RS1,P203L |
|
|
4063 |
4061,XRCC2,R188H |
|
|
4064 |
4062,ERBB2,T216S |
|
|
4065 |
4063,ANTXR2,Y381C |
|
|
4066 |
4064,WRN,Q1229L |
|
|
4067 |
4065,CLN8,A30P |
|
|
4068 |
4066,FLNA,A39G |
|
|
4069 |
4067,F8,V104D |
|
|
4070 |
4068,AR,V867M |
|
|
4071 |
4069,LPAR6,E189K |
|
|
4072 |
4070,FGFR3,P572A |
|
|
4073 |
4071,STAT1,L706S |
|
|
4074 |
4072,NPC1,G992R |
|
|
4075 |
4073,TGIF1,S157C |
|
|
4076 |
4074,CLCN5,L270R |
|
|
4077 |
4075,HPRT1,F74L |
|
|
4078 |
4076,GAA,E689K |
|
|
4079 |
4077,BRCA2,T2515I |
|
|
4080 |
4078,KRAS,G10dup |
|
|
4081 |
4079,SLC37A4,R28H |
|
|
4082 |
4080,LYST,V1999D |
|
|
4083 |
4081,LEPR,K656N |
|
|
4084 |
4082,ALOXE3,V632F |
|
|
4085 |
4083,TRPV4,D333G |
|
|
4086 |
4084,GJB1,R142W |
|
|
4087 |
4085,SCN5A,E1784K |
|
|
4088 |
4086,NEU1,V217M |
|
|
4089 |
4087,CFTR,S1255P |
|
|
4090 |
4088,RPGRIP1L,S659P |
|
|
4091 |
4089,MFN2,R94Q |
|
|
4092 |
4090,CTNS,G169D |
|
|
4093 |
4091,NLRP3,V198M |
|
|
4094 |
4092,EDA,R65G |
|
|
4095 |
4093,ABL1,E355G |
|
|
4096 |
4094,EIF2B5,R195H |
|
|
4097 |
4095,ARSA,G101D |
|
|
4098 |
4096,CLDN16,L151W |
|
|
4099 |
4097,SRY,I68T |
|
|
4100 |
4098,CFTR,A534E |
|
|
4101 |
4099,PTPRT,Q479E |
|
|
4102 |
4100,TCF4,R580Q |
|
|
4103 |
4101,TAT,G362V |
|
|
4104 |
4102,PROP1,R99Q |
|
|
4105 |
4103,CARD11,Amplification |
|
|
4106 |
4104,BCO1,T170M |
|
|
4107 |
4105,WWOX,L291P |
|
|
4108 |
4106,FOXI1,G258E |
|
|
4109 |
4107,SNRNP200,S1087L |
|
|
4110 |
4108,CDH1,S838G |
|
|
4111 |
4109,SCN1B,C121W |
|
|
4112 |
4110,PAH,P407L |
|
|
4113 |
4111,RPGR,F130C |
|
|
4114 |
4112,SLC22A18,R86H |
|
|
4115 |
4113,ATL1,R239C |
|
|
4116 |
4114,FREM1,R649W |
|
|
4117 |
4115,ALAS2,K299Q |
|
|
4118 |
4116,AR,G744V |
|
|
4119 |
4117,POMT2,G726E |
|
|
4120 |
4118,GLA,Q279E |
|
|
4121 |
4119,BEST1,A243V |
|
|
4122 |
4120,SLC11A1,D543N |
|
|
4123 |
4121,DYNC2H1,Q1537R |
|
|
4124 |
4122,SLC40A1,D157G |
|
|
4125 |
4123,PTEN,L42R |
|
|
4126 |
4124,MOCS1,R73W |
|
|
4127 |
4125,F8,N631S |
|
|
4128 |
4126,G6PD,A74G |
|
|
4129 |
4127,CASR,K47N |
|
|
4130 |
4128,UROD,R332H |
|
|
4131 |
4129,F9,R226Q |
|
|
4132 |
4130,CYP17A1,R362C |
|
|
4133 |
4131,SCN4A,R672H |
|
|
4134 |
4132,GDNF,I211M |
|
|
4135 |
4133,OPN1MW,N94K |
|
|
4136 |
4134,CASR,T138M |
|
|
4137 |
4135,C2orf71,I201F |
|
|
4138 |
4136,GALNS,R386C |
|
|
4139 |
4137,SLC25A15,T272I |
|
|
4140 |
4138,HMBS,A252T |
|
|
4141 |
4139,CPT2,E174K |
|
|
4142 |
4140,HLCS,D571N |
|
|
4143 |
4141,TBXAS1,L488P |
|
|
4144 |
4142,TMEM67,I833T |
|
|
4145 |
4143,CACNA1A,I1709T |
|
|
4146 |
4144,TNFRSF11A,G53R |
|
|
4147 |
4145,SCN9A,P149Q |
|
|
4148 |
4146,OAT,C93F |
|
|
4149 |
4147,ARHGAP9,S370A |
|
|
4150 |
4148,GHSR,A204E |
|
|
4151 |
4149,WDPCP,R55K |
|
|
4152 |
4150,OCA2,N489D |
|
|
4153 |
4151,PDHA1,Y243N |
|
|
4154 |
4152,CPS1,N1399T |
|
|
4155 |
4153,MUT,R108C |
|
|
4156 |
4154,TYR,R299H |
|
|
4157 |
4155,NHP2,null154R |
|
|
4158 |
4156,ETFDH,A84T |
|
|
4159 |
4157,STRA6,P293L |
|
|
4160 |
4158,G6PD,R228C |
|
|
4161 |
4159,DOK7,G180A |
|
|
4162 |
4160,RRAS2,Q37L |
|
|
4163 |
4161,MMADHC,L259P |
|
|
4164 |
4162,KCNQ1,G306R |
|
|
4165 |
4163,LDB3,A165V |
|
|
4166 |
4164,DNMT3B,G663S |
|
|
4167 |
4165,NFE2L2,D77H |
|
|
4168 |
4166,AMN,T41I |
|
|
4169 |
4167,GHRL,R39Q |
|
|
4170 |
4168,CAV3,T64S |
|
|
4171 |
4169,FKRP,A455D |
|
|
4172 |
4170,MTHFR,E429A |
|
|
4173 |
4171,ABCC8,L582V |
|
|
4174 |
4172,NOTCH3,W71C |
|
|
4175 |
4173,F8,M110V |
|
|
4176 |
4174,FIG4,I41T |
|
|
4177 |
4175,BCS1L,S277N |
|
|
4178 |
4176,FOXRED1,N430S |
|
|
4179 |
4177,NEU1,A298V |
|
|
4180 |
4178,GLB1,W509C |
|
|
4181 |
4179,IKBKG,A288G |
|
|
4182 |
4180,VWF,C804F |
|
|
4183 |
4181,PGK1,T378P |
|
|
4184 |
4182,MYO6,E216V |
|
|
4185 |
4183,FLVCR2,T430R |
|
|
4186 |
4184,SPAST,D470V |
|
|
4187 |
4185,HPD,A33T |
|
|
4188 |
4186,CASR,A116T |
|
|
4189 |
4187,UMOD,V273F |
|
|
4190 |
4188,NEU1,L363P |
|
|
4191 |
4189,ACADS,R46W |
|
|
4192 |
4190,OPA3,Q105E |
|
|
4193 |
4191,GIGYF2,I278V |
|
|
4194 |
4192,POMGNT1,P493R |
|
|
4195 |
4193,HMBS,A55S |
|
|
4196 |
4194,HGD,R330S |
|
|
4197 |
4195,NF1,L2143M |
|
|
4198 |
4196,ZFP57,R248H |
|
|
4199 |
4197,CFTR,D110H |
|
|
4200 |
4198,PEPD,R184Q |
|
|
4201 |
4199,HRAS,G12D |
|
|
4202 |
4200,FKRP,V79M |
|
|
4203 |
4201,DKC1,I38T |
|
|
4204 |
4202,OPA1,R445H |
|
|
4205 |
4203,TSPAN7,P172H |
|
|
4206 |
4204,COG4,R733W |
|
|
4207 |
4205,COL4A5,G521C |
|
|
4208 |
4206,CHD7,I1028V |
|
|
4209 |
4207,HGD,G270R |
|
|
4210 |
4208,SLC25A15,M37R |
|
|
4211 |
4209,F8,R2228L |
|
|
4212 |
4210,TECTA,C1619S |
|
|
4213 |
4211,WAS,I481N |
|
|
4214 |
4212,KCNJ11,K170R |
|
|
4215 |
4213,HSD17B4,R106P |
|
|
4216 |
4214,PROC,W444C |
|
|
4217 |
4215,PRODH,Q521R |
|
|
4218 |
4216,STXBP1,M443R |
|
|
4219 |
4217,PROC,H149P |
|
|
4220 |
4218,G6PC,V166G |
|
|
4221 |
4219,DCTN1,T1207I |
|
|
4222 |
4220,SUFU,P15L |
|
|
4223 |
4221,F8,M1842I |
|
|
4224 |
4222,TBX1,H194Q |
|
|
4225 |
4223,CYP27A1,R395S |
|
|
4226 |
4224,CPT2,Y628S |
|
|
4227 |
4225,SLC7A9,A182T |
|
|
4228 |
4226,TFR2,Q690P |
|
|
4229 |
4227,GCH1,H144P |
|
|
4230 |
4228,ZNF592,G1046R |
|
|
4231 |
4229,ACVRL1,I398N |
|
|
4232 |
4230,CASR,G553R |
|
|
4233 |
4231,SAR1B,G37R |
|
|
4234 |
4232,ITGB2,S138P |
|
|
4235 |
4233,AR,M808T |
|
|
4236 |
4234,GLI1,Amplification |
|
|
4237 |
4235,SLC25A22,P206L |
|
|
4238 |
4236,ATP8B1,G892R |
|
|
4239 |
4237,ATP7B,G943S |
|
|
4240 |
4238,PTS,N47D |
|
|
4241 |
4239,PRPS1,A190V |
|
|
4242 |
4240,IRF6,R84H |
|
|
4243 |
4241,SCNN1B,P267L |
|
|
4244 |
4242,PGK1,C316R |
|
|
4245 |
4243,F9,S411G |
|
|
4246 |
4244,VDR,I314S |
|
|
4247 |
4245,SLC22A5,Y211C |
|
|
4248 |
4246,FKTN,A170E |
|
|
4249 |
4247,PDHA1,R263G |
|
|
4250 |
4248,EPM2A,G279S |
|
|
4251 |
4249,SH3TC2,R529H |
|
|
4252 |
4250,ACADVL,K382Q |
|
|
4253 |
4251,SCN4A,I141V |
|
|
4254 |
4252,ATRX,I2050T |
|
|
4255 |
4253,CBS,G139R |
|
|
4256 |
4254,G6PD,E347K |
|
|
4257 |
4255,PIK3R1,R503W |
|
|
4258 |
4256,TWIST1,Q119P |
|
|
4259 |
4257,MAT1A,P357L |
|
|
4260 |
4258,CBX2,P98L |
|
|
4261 |
4259,AVP,G88S |
|
|
4262 |
4260,LMX1B,C118F |
|
|
4263 |
4261,GLA,A143P |
|
|
4264 |
4262,SLC19A3,T422A |
|
|
4265 |
4263,FGF10,I156R |
|
|
4266 |
4264,AGA,C163S |
|
|
4267 |
4265,UCP3,R70W |
|
|
4268 |
4266,SLC26A4,Y530H |
|
|
4269 |
4267,BSCL2,S90L |
|
|
4270 |
4268,SACS,W1946R |
|
|
4271 |
4269,NPHS2,D160G |
|
|
4272 |
4270,ATP8B1,D70N |
|
|
4273 |
4271,RPS6KA3,I189K |
|
|
4274 |
4272,FHL1,H123L |
|
|
4275 |
4273,OAT,V332M |
|
|
4276 |
4274,BTD,Q456H |
|
|
4277 |
4275,GLDC,A389V |
|
|
4278 |
4276,THAP1,G9C |
|
|
4279 |
4277,CYP11B1,A368D |
|
|
4280 |
4278,HSD17B4,N457Y |
|
|
4281 |
4279,SH3BP2,P418H |
|
|
4282 |
4280,PCCA,M373K |
|
|
4283 |
4281,SCN9A,K655R |
|
|
4284 |
4282,BRCA2,L2647P |
|
|
4285 |
4283,CHEK2,R180H |
|
|
4286 |
4284,CPT1A,D454G |
|
|
4287 |
4285,RAPSN,V45M |
|
|
4288 |
4286,CBS,P422L |
|
|
4289 |
4287,F8,I585T |
|
|
4290 |
4288,WDR35,A875T |
|
|
4291 |
4289,F5,R2102C |
|
|
4292 |
4290,PAH,S349P |
|
|
4293 |
4291,HFE,Q283P |
|
|
4294 |
4292,INF2,R214H |
|
|
4295 |
4293,COQ8A,R213W |
|
|
4296 |
4294,NPC1,V889M |
|
|
4297 |
4295,ATRX,R2271G |
|
|
4298 |
4296,NTRK1,G577V |
|
|
4299 |
4297,ADAMTS13,R692C |
|
|
4300 |
4298,BRCA1,Q1409L |
|
|
4301 |
4299,HSD11B2,R213C |
|
|
4302 |
4300,SLC4A11,G448D |
|
|
4303 |
4301,EFNB1,M158I |
|
|
4304 |
4302,GLA,D264V |
|
|
4305 |
4303,ADAMTS13,R528G |
|
|
4306 |
4304,NEK8,H425Y |
|
|
4307 |
4305,CBS,A114V |
|
|
4308 |
4306,ABCD1,R518W |
|
|
4309 |
4307,CTRC,R254W |
|
|
4310 |
4308,ROBO3,S705P |
|
|
4311 |
4309,SUOX,A265D |
|
|
4312 |
4310,WNT10A,F228I |
|
|
4313 |
4311,FLVCR2,P280R |
|
|
4314 |
4312,ARAF,S214F |
|
|
4315 |
4313,NDP,H42R |
|
|
4316 |
4314,F9,R379Q |
|
|
4317 |
4315,KRT9,Q172P |
|
|
4318 |
4316,RP9,H137L |
|
|
4319 |
4317,DOLK,Y441S |
|
|
4320 |
4318,ALAS2,R452C |
|
|
4321 |
4319,SLC46A1,S318R |
|
|
4322 |
4320,MFN2,R104W |
|
|
4323 |
4321,GDF5,R378Q |
|
|
4324 |
4322,F8,S392P |
|
|
4325 |
4323,PIK3CA,E110K |
|
|
4326 |
4324,UGT1A1,Q357R |
|
|
4327 |
4325,FOXC2,S125L |
|
|
4328 |
4326,BRCA1,T1773S |
|
|
4329 |
4327,SHOX,R153L |
|
|
4330 |
4328,EIF2B3,R225Q |
|
|
4331 |
4329,POMGNT1,D556N |
|
|
4332 |
4330,MYOC,G367R |
|
|
4333 |
4331,TP53,T329I |
|
|
4334 |
4332,PANK2,S351P |
|
|
4335 |
4333,AGXT,G82E |
|
|
4336 |
4334,CA2,P236H |
|
|
4337 |
4335,PANK2,S471N |
|
|
4338 |
4336,SHH,G290D |
|
|
4339 |
4337,MLYCD,G3D |
|
|
4340 |
4338,ATP7B,H1069Q |
|
|
4341 |
4339,SELENON,W453S |
|
|
4342 |
4340,LYST,R1563H |
|
|
4343 |
4341,ABCD1,P484R |
|
|
4344 |
4342,SEC23A,F382L |
|
|
4345 |
4343,HSPB8,K141E |
|
|
4346 |
4344,KRT86,N114D |
|
|
4347 |
4345,NAGLU,R643H |
|
|
4348 |
4346,PCDH15,R134G |
|
|
4349 |
4347,KCNQ1,G269S |
|
|
4350 |
4348,HSF4,R119C |
|
|
4351 |
4349,FLNB,E227K |
|
|
4352 |
4350,FHL1,V280M |
|
|
4353 |
4351,TPH2,R303W |
|
|
4354 |
4352,HAL,R322P |
|
|
4355 |
4353,OAT,G353D |
|
|
4356 |
4354,F9,V181F |
|
|
4357 |
4355,MECP2,T158M |
|
|
4358 |
4356,FBN2,C1142F |
|
|
4359 |
4357,SLC12A3,R209W |
|
|
4360 |
4358,CACNA1A,R1661H |
|
|
4361 |
4359,EFHC1,I174V |
|
|
4362 |
4360,VCP,A232E |
|
|
4363 |
4361,GAN,I423T |
|
|
4364 |
4362,CFI,D519N |
|
|
4365 |
4363,CDKN2A,L16P |
|
|
4366 |
4364,NPC1,P1007A |
|
|
4367 |
4365,ATP7A,T994I |
|
|
4368 |
4366,SCN5A,G1261S |
|
|
4369 |
4367,ARSE,P578S |
|
|
4370 |
4368,ETFDH,L127H |
|
|
4371 |
4369,VWF,R1399H |
|
|
4372 |
4370,CNGA3,R277C |
|
|
4373 |
4371,PARK7,L166P |
|
|
4374 |
4372,G6PD,C415R |
|
|
4375 |
4373,NDP,C96Y |
|
|
4376 |
4374,FKRP,P316T |
|
|
4377 |
4375,LIPI,C76Y |
|
|
4378 |
4376,NEXN,P611T |
|
|
4379 |
4377,ARSE,R12S |
|
|
4380 |
4378,XPC,P334H |
|
|
4381 |
4379,BSCL2,A212P |
|
|
4382 |
4380,HCRT,L16R |
|
|
4383 |
4381,APOA5,S19W |
|
|
4384 |
4382,PTEN,D301N |
|
|
4385 |
4383,BBS12,A289P |
|
|
4386 |
4384,TP63,R352G |
|
|
4387 |
4385,RANBP2,T585M |
|
|
4388 |
4386,DKC1,T357A |
|
|
4389 |
4387,KIF21A,M947V |
|
|
4390 |
4388,STRA6,R655C |
|
|
4391 |
4389,G6PC,W77R |
|
|
4392 |
4390,DNMT3B,S270P |
|
|
4393 |
4391,SCNN1B,P369T |
|
|
4394 |
4392,BCS1L,R183H |
|
|
4395 |
4393,BBS4,R295P |
|
|
4396 |
4394,PITX2,T68P |
|
|
4397 |
4395,CRB1,V162M |
|
|
4398 |
4396,LHX4,L190R |
|
|
4399 |
4397,IKBKG,R173G |
|
|
4400 |
4398,GTF2H5,L21P |
|
|
4401 |
4399,PHKA2,P1205L |
|
|
4402 |
4400,RDH12,L99I |
|
|
4403 |
4401,PEPD,S202F |
|
|
4404 |
4402,PHGDH,V261M |
|
|
4405 |
4403,GBA,H294Q |
|
|
4406 |
4404,MKKS,L277P |
|
|
4407 |
4405,KCNQ1,P117L |
|
|
4408 |
4406,GUSB,K350N |
|
|
4409 |
4407,GAD1,S12C |
|
|
4410 |
4408,ARL13B,R200C |
|
|
4411 |
4409,CYP21A2,G292S |
|
|
4412 |
4410,CYB5R3,S128P |
|
|
4413 |
4411,FHL1,C150Y |
|
|
4414 |
4412,ALOX12B,H578Q |
|
|
4415 |
4413,MEFV,M694V |
|
|
4416 |
4414,CPOX,H295D |
|
|
4417 |
4415,SLC26A4,G497S |
|
|
4418 |
4416,HPGD,S193P |
|
|
4419 |
4417,EDA,A349T |
|
|
4420 |
4418,CAV3,G56S |
|
|
4421 |
4419,AGXT,S205P |
|
|
4422 |
4420,CBS,P145L |
|
|
4423 |
4421,SLC37A4,W118R |
|
|
4424 |
4422,MUT,G703R |
|
|
4425 |
4423,F9,R191C |
|
|
4426 |
4424,PLOD2,T608I |
|
|
4427 |
4425,PSEN2,M239V |
|
|
4428 |
4426,MC2R,R137W |
|
|
4429 |
4427,ARSA,G311S |
|
|
4430 |
4428,RDH12,T49M |
|
|
4431 |
4429,SDHA,R554W |
|
|
4432 |
4430,C1QTNF5,S163R |
|
|
4433 |
4431,HEXA,Y180H |
|
|
4434 |
4432,FGF9,S99N |
|
|
4435 |
4433,OPTN,E478G |
|
|
4436 |
4434,SGCB,M100K |
|
|
4437 |
4435,GUSB,P148S |
|
|
4438 |
4436,KIRREL3,R40W |
|
|
4439 |
4437,CTNS,G339R |
|
|
4440 |
4438,IVD,G202V |
|
|
4441 |
4439,TWNK,Y508C |
|
|
4442 |
4440,NOG,W217G |
|
|
4443 |
4441,INPP5E,R378C |
|
|
4444 |
4442,KCNQ1,A300T |
|
|
4445 |
4443,FLNA,D1159A |
|
|
4446 |
4444,RAD51C,L138F |
|
|
4447 |
4445,GBA,H350R |
|
|
4448 |
4446,FGF8,T229M |
|
|
4449 |
4447,PHYH,N269H |
|
|
4450 |
4448,BTK,C506R |
|
|
4451 |
4449,KCNQ1,G189R |
|
|
4452 |
4450,BRAF,L505H |
|
|
4453 |
4451,HSF4,L114P |
|
|
4454 |
4452,CENPJ,E1235V |
|
|
4455 |
4453,GALNS,N487S |
|
|
4456 |
4454,NLRP7,L398R |
|
|
4457 |
4455,SLC4A11,S197P |
|
|
4458 |
4456,GLA,E66Q |
|
|
4459 |
4457,CPN1,G178D |
|
|
4460 |
4458,F9,V228L |
|
|
4461 |
4459,OTC,M206R |
|
|
4462 |
4460,SDHD,H102L |
|
|
4463 |
4461,NR0B2,A195S |
|
|
4464 |
4462,AIRE,M1L |
|
|
4465 |
4463,SLC45A2,D157N |
|
|
4466 |
4464,F8,D1865Y |
|
|
4467 |
4465,DPM1,R92G |
|
|
4468 |
4466,PAH,Y204C |
|
|
4469 |
4467,EFNB1,G151V |
|
|
4470 |
4468,BTD,N489T |
|
|
4471 |
4469,EVC2,R870W |
|
|
4472 |
4470,F8,R2326L |
|
|
4473 |
4471,BRCA1,D695N |
|
|
4474 |
4472,GLA,C202W |
|
|
4475 |
4473,SERPING1,R466S |
|
|
4476 |
4474,GBE1,H628R |
|
|
4477 |
4475,IQSEC2,R863W |
|
|
4478 |
4476,CTSA,Y413C |
|
|
4479 |
4477,USB1,R168G |
|
|
4480 |
4478,ESR1,D538G |
|
|
4481 |
4479,GLB1,R482H |
|
|
4482 |
4480,HFE,G93R |
|
|
4483 |
4481,SLC26A4,A372V |
|
|
4484 |
4482,AICDA,W80R |
|
|
4485 |
4483,LPL,D277N |
|
|
4486 |
4484,MED25,A335V |
|
|
4487 |
4485,NEU1,P316S |
|
|
4488 |
4486,RAB7A,N161T |
|
|
4489 |
4487,EFEMP2,R279C |
|
|
4490 |
4488,NF1,L357P |
|
|
4491 |
4489,COX10,P225L |
|
|
4492 |
4490,ALAS2,A172T |
|
|
4493 |
4491,MBTPS2,M87I |
|
|
4494 |
4492,G6PD,S136C |
|
|
4495 |
4493,ATP7B,R969Q |
|
|
4496 |
4494,SLC16A1,K204E |
|
|
4497 |
4495,GUCY2D,F565S |
|
|
4498 |
4496,HEXB,Y456S |
|
|
4499 |
4497,F9,N166Y |
|
|
4500 |
4498,WAS,T45M |
|
|
4501 |
4499,SEPT9,S93F |
|
|
4502 |
4500,ATRX,T1621M |
|
|
4503 |
4501,KIT,Exon 11 deletions |
|
|
4504 |
4502,PROM1,R373C |
|
|
4505 |
4503,MYO6,H246R |
|
|
4506 |
4504,MECP2,P322S |
|
|
4507 |
4505,ALG6,A333V |
|
|
4508 |
4506,F8,R1960Q |
|
|
4509 |
4507,RGS9,W299R |
|
|
4510 |
4508,MVK,V310M |
|
|
4511 |
4509,TTPA,R192H |
|
|
4512 |
4510,NPC1,L1213F |
|
|
4513 |
4511,SLC40A1,D181V |
|
|
4514 |
4512,MYO15A,I2113F |
|
|
4515 |
4513,SOX17,Deletion |
|
|
4516 |
4514,MCCC1,M325R |
|
|
4517 |
4515,LARGE1,E509K |
|
|
4518 |
4516,CHST3,F159I |
|
|
4519 |
4517,F8,S1803Y |
|
|
4520 |
4518,ABCA1,R1680W |
|
|
4521 |
4519,TYR,D383N |
|
|
4522 |
4520,KRAS,G13D |
|
|
4523 |
4521,MOGS,R486T |
|
|
4524 |
4522,CYP27B1,R389G |
|
|
4525 |
4523,ACVR2B,R40H |
|
|
4526 |
4524,CHEK2,R145W |
|
|
4527 |
4525,GAMT,C169Y |
|
|
4528 |
4526,ATRX,C220Y |
|
|
4529 |
4527,WFS1,E864K |
|
|
4530 |
4528,EGFR,P772_H773insYNP |
|
|
4531 |
4529,F8,T294I |
|
|
4532 |
4530,AQP7,G264V |
|
|
4533 |
4531,SECISBP2,R540Q |
|
|
4534 |
4532,GFI1,K403R |
|
|
4535 |
4533,HMGCL,V70L |
|
|
4536 |
4534,AGL,R1147G |
|
|
4537 |
4535,OPA1,G300E |
|
|
4538 |
4536,SRY,Y127F |
|
|
4539 |
4537,PAH,E76G |
|
|
4540 |
4538,POMGNT1,R311Q |
|
|
4541 |
4539,MKKS,T325P |
|
|
4542 |
4540,APOL1,S358G |
|
|
4543 |
4541,SHOX,L132V |
|
|
4544 |
4542,PRICKLE1,R104Q |
|
|
4545 |
4543,TWNK,W315L |
|
|
4546 |
4544,LIG4,T9I |
|
|
4547 |
4545,ACADS,S353L |
|
|
4548 |
4546,HFE2,I281T |
|
|
4549 |
4547,CD40LG,G227V |
|
|
4550 |
4548,OSMR,G618A |
|
|
4551 |
4549,ADA,P297Q |
|
|
4552 |
4550,F8,S189L |
|
|
4553 |
4551,ACADM,I375T |
|
|
4554 |
4552,FRMD7,R229G |
|
|
4555 |
4553,LDLR,S177L |
|
|
4556 |
4554,GBE1,Q236H |
|
|
4557 |
4555,ERCC8,A205P |
|
|
4558 |
4556,PIK3R2,A36E |
|
|
4559 |
4557,SCN4A,R1448H |
|
|
4560 |
4558,CBS,T353M |
|
|
4561 |
4559,ARSA,R246C |
|
|
4562 |
4560,PRKN,K211N |
|
|
4563 |
4561,PDE6C,E790K |
|
|
4564 |
4562,ACADS,G209S |
|
|
4565 |
4563,LDLR,D433H |
|
|
4566 |
4564,DNM2,S619W |
|
|
4567 |
4565,EGFR,E746_S752delinsV |
|
|
4568 |
4566,IDS,S333L |
|
|
4569 |
4567,VSX1,A256S |
|
|
4570 |
4568,FAM20C,G365R |
|
|
4571 |
4569,PINK1,L347P |
|
|
4572 |
4570,KRT81,E413K |
|
|
4573 |
4571,SCN3B,L10P |
|
|
4574 |
4572,FOXE1,A65V |
|
|
4575 |
4573,GBE1,R524Q |
|
|
4576 |
4574,ABCC8,E382K |
|
|
4577 |
4575,CBS,K384E |
|
|
4578 |
4576,TRPC6,N143S |
|
|
4579 |
4577,LZTS1,K119E |
|
|
4580 |
4578,PGK1,G158V |
|
|
4581 |
4579,JAG1,G274D |
|
|
4582 |
4580,F9,I443T |
|
|
4583 |
4581,TARDBP,D169G |
|
|
4584 |
4582,TRPS1,R965C |
|
|
4585 |
4583,CPOX,S208F |
|
|
4586 |
4584,ABCG8,L596R |
|
|
4587 |
4585,ADA,R211H |
|
|
4588 |
4586,RBM20,R636S |
|
|
4589 |
4587,GYG1,T83M |
|
|
4590 |
4588,AGA,A101V |
|
|
4591 |
4589,AKT1,R200A |
|
|
4592 |
4590,RBM20,S637G |
|
|
4593 |
4591,FOXL2,Y258N |
|
|
4594 |
4592,TFR2,M172K |
|
|
4595 |
4593,HOGA1,G287V |
|
|
4596 |
4594,HSD3B2,P341L |
|
|
4597 |
4595,F8,V653M |
|
|
4598 |
4596,HSF4,I86V |
|
|
4599 |
4597,WDR62,W224S |
|
|
4600 |
4598,FLNA,V711D |
|
|
4601 |
4599,AR,S741C |
|
|
4602 |
4600,GUSB,R216W |
|
|
4603 |
4601,PTCH1,T1052M |
|
|
4604 |
4602,F9,D110N |
|
|
4605 |
4603,CSTB,G4R |
|
|
4606 |
4604,NR0B1,W105C |
|
|
4607 |
4605,CDKL5,I72T |
|
|
4608 |
4606,DYNC2H1,R2205H |
|
|
4609 |
4607,BRAF,T599_V600insETT |
|
|
4610 |
4608,CYP2C9,L208V |
|
|
4611 |
4609,AXIN2,Truncating Mutations |
|
|
4612 |
4610,SGCB,R91L |
|
|
4613 |
4611,GBA,R535H |
|
|
4614 |
4612,DKC1,G402E |
|
|
4615 |
4613,GLA,D313Y |
|
|
4616 |
4614,ZFPM2,M703L |
|
|
4617 |
4615,RAD54B,D418Y |
|
|
4618 |
4616,GK,D446V |
|
|
4619 |
4617,CBS,V168M |
|
|
4620 |
4618,ARSB,Y210C |
|
|
4621 |
4619,SI,Q117R |
|
|
4622 |
4620,ARL6,T31R |
|
|
4623 |
4621,AMELX,T51I |
|
|
4624 |
4622,PRODH,L441P |
|
|
4625 |
4623,REEP1,A20E |
|
|
4626 |
4624,F9,P333L |
|
|
4627 |
4625,QDPR,W108G |
|
|
4628 |
4626,APOC2,W48R |
|
|
4629 |
4627,CASR,R898Q |
|
|
4630 |
4628,GCH1,I135K |
|
|
4631 |
4629,CYP4F22,H435Y |
|
|
4632 |
4630,F8,R2182H |
|
|
4633 |
4631,BRAF,T599insTT |
|
|
4634 |
4632,ABCG5,R419H |
|
|
4635 |
4633,CHST6,R93S |
|
|
4636 |
4634,ASAH1,T238K |
|
|
4637 |
4635,PDHA1,D258A |
|
|
4638 |
4636,CBL,S80N |
|
|
4639 |
4637,CRB1,T745M |
|
|
4640 |
4638,ACADSB,G410S |
|
|
4641 |
4639,PAH,R176L |
|
|
4642 |
4640,RECQL4,R1021W |
|
|
4643 |
4641,OAT,P417L |
|
|
4644 |
4642,GHR,D170H |
|
|
4645 |
4643,CRX,R41Q |
|
|
4646 |
4644,PLP1,H140Y |
|
|
4647 |
4645,KLF6,L169P |
|
|
4648 |
4646,PRKN,K161N |
|
|
4649 |
4647,ALK,R1275Q |
|
|
4650 |
4648,SCNN1B,G294S |
|
|
4651 |
4649,GDI1,L92P |
|
|
4652 |
4650,BTK,R520Q |
|
|
4653 |
4651,DCX,S47R |
|
|
4654 |
4652,KIF5A,N256S |
|
|
4655 |
4653,ABCC6,G1302R |
|
|
4656 |
4654,NDP,L124F |
|
|
4657 |
4655,EGFR,E746_T751delinsL |
|
|
4658 |
4656,TRIP11,N701S |
|
|
4659 |
4657,HMBS,R26H |
|
|
4660 |
4658,FHL1,C224W |
|
|
4661 |
4659,MESP2,L125V |
|
|
4662 |
4660,KCNMB1,E65K |
|
|
4663 |
4661,NR0B1,N440I |
|
|
4664 |
4662,DMD,C3340Y |
|
|
4665 |
4663,TNFRSF11A,R170G |
|
|
4666 |
4664,TMPRSS6,A118D |
|
|
4667 |
4665,TRPV4,R269H |
|
|
4668 |
4666,SLC25A3,G72E |
|
|
4669 |
4667,NSMF,T480A |
|
|
4670 |
4668,MTRR,G487R |
|
|
4671 |
4669,GM2A,R169P |
|
|
4672 |
4670,SLC25A15,L71Q |
|
|
4673 |
4671,PAH,F299C |
|
|
4674 |
4672,ARSB,C405Y |
|
|
4675 |
4673,GBA,P161S |
|
|
4676 |
4674,FANCI,R1285Q |
|
|
4677 |
4675,NPC1,R978C |
|
|
4678 |
4676,A4GALT,G187D |
|
|
4679 |
4677,SPG7,W583C |
|
|
4680 |
4678,TPP1,R447H |
|
|
4681 |
4679,CISD2,E37Q |
|
|
4682 |
4680,GAA,M318T |
|
|
4683 |
4681,NDUFAF3,R65P |
|
|
4684 |
4682,NPC2,P120S |
|
|
4685 |
4683,CHST3,R222W |
|
|
4686 |
4684,LHFPL5,T165M |
|
|
4687 |
4685,PMP22,S79C |
|
|
4688 |
4686,COLQ,Y430S |
|
|
4689 |
4687,F8,L1808F |
|
|
4690 |
4688,OPN1MW,R330Q |
|
|
4691 |
4689,CACNB2,S481L |
|
|
4692 |
4690,PMP22,S72L |
|
|
4693 |
4691,EIF2B2,V316D |
|
|
4694 |
4692,PTEN,N94I |
|
|
4695 |
4693,TCF4,R580W |
|
|
4696 |
4694,ABCA4,L1940P |
|
|
4697 |
4695,CASP10,M147T |
|
|
4698 |
4696,ABCC8,I1424V |
|
|
4699 |
4697,SOX18,A104P |
|
|
4700 |
4698,SMPD1,S438R |
|
|
4701 |
4699,CYP4V2,W44R |
|
|
4702 |
4700,ITGB2,N351S |
|
|
4703 |
4701,ESPN,D744N |
|
|
4704 |
4702,CTSC,G301S |
|
|
4705 |
4703,KCNMA1,D434G |
|
|
4706 |
4704,ELAC2,E622V |
|
|
4707 |
4705,PCDH19,V441E |
|
|
4708 |
4706,WISP3,S334P |
|
|
4709 |
4707,AR,L713F |
|
|
4710 |
4708,BLMH,I443V |
|
|
4711 |
4709,GBA,P328L |
|
|
4712 |
4710,TP53,L330P |
|
|
4713 |
4711,AR,F583Y |
|
|
4714 |
4712,HTRA2,A141S |
|
|
4715 |
4713,MRE11,N117S |
|
|
4716 |
4714,ARSA,T276M |
|
|
4717 |
4715,LPL,L392V |
|
|
4718 |
4716,FANCA,R1055L |
|
|
4719 |
4717,POMT2,G482V |
|
|
4720 |
4718,CASR,C131W |
|
|
4721 |
4719,TPCN2,M484L |
|
|
4722 |
4720,TP63,R318H |
|
|
4723 |
4721,BTK,W581R |
|
|
4724 |
4722,ERF,Truncating Mutations |
|
|
4725 |
4723,SERPINI1,S49P |
|
|
4726 |
4724,BBS2,D104A |
|
|
4727 |
4725,PHKA2,K189E |
|
|
4728 |
4726,BRCA1,D1692H |
|
|
4729 |
4727,KISS1R,L102P |
|
|
4730 |
4728,HPRT1,D80V |
|
|
4731 |
4729,DARS2,L626Q |
|
|
4732 |
4730,KCNJ2,N216H |
|
|
4733 |
4731,SLC19A2,G172D |
|
|
4734 |
4732,STXBP2,P477L |
|
|
4735 |
4733,COQ8A,G549S |
|
|
4736 |
4734,L1CAM,I179S |
|
|
4737 |
4735,CFTR,A455E |
|
|
4738 |
4736,WT1,D464G |
|
|
4739 |
4737,NLRP3,F309S |
|
|
4740 |
4738,SLC25A13,R588Q |
|
|
4741 |
4739,SLC9A3R1,R153Q |
|
|
4742 |
4740,MYO7A,R244P |
|
|
4743 |
4741,GUSB,W627C |
|
|
4744 |
4742,CYP7B1,R417H |
|
|
4745 |
4743,MED13L,R1872H |
|
|
4746 |
4744,GJB1,P172S |
|
|
4747 |
4745,UBE3A,I130T |
|
|
4748 |
4746,ATP8B1,G308V |
|
|
4749 |
4747,AVPR2,I46K |
|
|
4750 |
4748,SERPINF2,V411M |
|
|
4751 |
4749,AGTR2,G21V |
|
|
4752 |
4750,PDE6C,R29W |
|
|
4753 |
4751,WNT7A,R292C |
|
|
4754 |
4752,ZIC3,K405E |
|
|
4755 |
4753,DICER1,L1583R |
|
|
4756 |
4754,PYGL,N377K |
|
|
4757 |
4755,FGF23,R176Q |
|
|
4758 |
4756,BTK,L542P |
|
|
4759 |
4757,SGCD,A131P |
|
|
4760 |
4758,TLL1,I629V |
|
|
4761 |
4759,AGTR2,I53F |
|
|
4762 |
4760,SCN5A,D1819N |
|
|
4763 |
4761,CRB1,R764C |
|
|
4764 |
4762,BBS5,G72S |
|
|
4765 |
4763,PTPRT,Truncating Mutations |
|
|
4766 |
4764,MAPK8IP1,S59N |
|
|
4767 |
4765,EXT1,R340C |
|
|
4768 |
4766,SCN4A,I1160V |
|
|
4769 |
4767,HEXA,E482K |
|
|
4770 |
4768,PAH,R408Q |
|
|
4771 |
4769,ABCA12,D2365N |
|
|
4772 |
4770,ACADM,T121I |
|
|
4773 |
4771,XYLT2,T801R |
|
|
4774 |
4772,AGTR2,R324Q |
|
|
4775 |
4773,CACNA1A,Y1384C |
|
|
4776 |
4774,PTCH1,A393T |
|
|
4777 |
4775,AIPL1,C239R |
|
|
4778 |
4776,SRD5A2,L55Q |
|
|
4779 |
4777,CHD7,G2108R |
|
|
4780 |
4778,SLC34A3,G196R |
|
|
4781 |
4779,SETBP1,D868N |
|
|
4782 |
4780,ABCC8,S1185Y |
|
|
4783 |
4781,ABCC8,E1507K |
|
|
4784 |
4782,PROP1,F88S |
|
|
4785 |
4783,KERA,T215K |
|
|
4786 |
4784,LPL,W113R |
|
|
4787 |
4785,PNPLA2,P195L |
|
|
4788 |
4786,LCAT,N252K |
|
|
4789 |
4787,STAT1,Q463H |
|
|
4790 |
4788,ASS1,R363W |
|
|
4791 |
4789,DLL3,G504D |
|
|
4792 |
4790,KCNJ11,L147P |
|
|
4793 |
4791,RAPSN,L283P |
|
|
4794 |
4792,BRCA1,D1851E |
|
|
4795 |
4793,AFG3L2,E691K |
|
|
4796 |
4794,TMEM67,S320C |
|
|
4797 |
4795,RANBP2,T653I |
|
|
4798 |
4796,PYGL,V222I |
|
|
4799 |
4797,PROKR2,L173R |
|
|
4800 |
4798,TCF4,R578P |
|
|
4801 |
4799,TREX1,D18N |
|
|
4802 |
4800,CCBE1,C174R |
|
|
4803 |
4801,GCDH,A293T |
|
|
4804 |
4802,PINK1,Y431H |
|
|
4805 |
4803,OTX2,R89G |
|
|
4806 |
4804,VCP,R191Q |
|
|
4807 |
4805,AR,N235K |
|
|
4808 |
4806,SLC46A1,R376W |
|
|
4809 |
4807,SRY,F109S |
|
|
4810 |
4808,AHI1,V443D |
|
|
4811 |
4809,SLC7A9,V170M |
|
|
4812 |
4810,ABCC8,R1493W |
|
|
4813 |
4811,TARDBP,M337V |
|
|
4814 |
4812,GLB1,R482C |
|
|
4815 |
4813,HESX1,T181A |
|
|
4816 |
4814,ARSA,P138L |
|
|
4817 |
4815,CRB1,M1041T |
|
|
4818 |
4816,ACADS,R171W |
|
|
4819 |
4817,ZNF365,A62T |
|
|
4820 |
4818,IDUA,P533R |
|
|
4821 |
4819,EYA1,G426S |
|
|
4822 |
4820,GAA,E521K |
|
|
4823 |
4821,NF1,L1243P |
|
|
4824 |
4822,MYOT,T57I |
|
|
4825 |
4823,GALE,G90E |
|
|
4826 |
4824,TBC1D24,A515V |
|
|
4827 |
4825,PHF6,H229R |
|
|
4828 |
4826,ZFYVE27,G191V |
|
|
4829 |
4827,F9,R294Q |
|
|
4830 |
4828,UGT1A1,G308E |
|
|
4831 |
4829,APTX,V263G |
|
|
4832 |
4830,TPP1,G284V |
|
|
4833 |
4831,RFT1,R67C |
|
|
4834 |
4832,CLCN2,G715E |
|
|
4835 |
4833,LPL,G215E |
|
|
4836 |
4834,PROC,S312L |
|
|
4837 |
4835,CYP7B1,S363F |
|
|
4838 |
4836,HGD,P230S |
|
|
4839 |
4837,ABCA1,Q597R |
|
|
4840 |
4838,ERBB2,L755_T759del |
|
|
4841 |
4839,BRCA1,E33A |
|
|
4842 |
4840,NECTIN4,T185M |
|
|
4843 |
4841,AR,Q903R |
|
|
4844 |
4842,NPC1,C113R |
|
|
4845 |
4843,GUSB,R577L |
|
|
4846 |
4844,GBA,G85E |
|
|
4847 |
4845,ADA,T233I |
|
|
4848 |
4846,UROD,P62L |
|
|
4849 |
4847,BRCA1,K1487R |
|
|
4850 |
4848,FLNA,A1188T |
|
|
4851 |
4849,ANO5,G231V |
|
|
4852 |
4850,HMBS,L245R |
|
|
4853 |
4851,FKRP,Y307N |
|
|
4854 |
4852,GCDH,Y295H |
|
|
4855 |
4853,HMBS,R116W |
|
|
4856 |
4854,ALG1,S150R |
|
|
4857 |
4855,KCNQ1,V254M |
|
|
4858 |
4856,ASXL1,Truncating Mutations |
|
|
4859 |
4857,GJA8,P88S |
|
|
4860 |
4858,CDH23,Q1496H |
|
|
4861 |
4859,CTSK,A277V |
|
|
4862 |
4860,INF2,L42P |
|
|
4863 |
4861,SLC26A2,G678V |
|
|
4864 |
4862,ITGA2B,I874S |
|
|
4865 |
4863,ALDOB,W148R |
|
|
4866 |
4864,TPH2,P206S |
|
|
4867 |
4865,MRE11,T481K |
|
|
4868 |
4866,ALG2,K131N |
|
|
4869 |
4867,FOXF1,null380R |
|
|
4870 |
4868,PGAM2,R90W |
|
|
4871 |
4869,DYSF,D625Y |
|
|
4872 |
4870,NR0B1,W291C |
|
|
4873 |
4871,CYB5R3,R58Q |
|
|
4874 |
4872,TMIE,R81C |
|
|
4875 |
4873,SGSH,E369K |
|
|
4876 |
4874,MKKS,C499S |
|
|
4877 |
4875,DHCR7,E448K |
|
|
4878 |
4876,PLP1,I187T |
|
|
4879 |
4877,PMM2,C241S |
|
|
4880 |
4878,PKLR,S130Y |
|
|
4881 |
4879,SCNN1B,P616L |
|
|
4882 |
4880,USH2A,C759F |
|
|
4883 |
4881,PTEN,V217I |
|
|
4884 |
4882,PRKAG2,T400N |
|
|
4885 |
4883,TSHR,K183R |
|
|
4886 |
4884,KCNQ1,G314S |
|
|
4887 |
4885,ARG1,I11T |
|
|
4888 |
4886,GNE,A557T |
|
|
4889 |
4887,GCDH,R402W |
|
|
4890 |
4888,HUWE1,R4013W |
|
|
4891 |
4889,PSEN2,D439A |
|
|
4892 |
4890,EMD,P183H |
|
|
4893 |
4891,HUWE1,R2981H |
|
|
4894 |
4892,VPS13B,L2193R |
|
|
4895 |
4893,SLC26A2,C653S |
|
|
4896 |
4894,FOXE1,S57N |
|
|
4897 |
4895,CPT1A,E360G |
|
|
4898 |
4896,INPP4B,Deletion |
|
|
4899 |
4897,CTSC,Y412C |
|
|
4900 |
4898,SGCB,L108R |
|
|
4901 |
4899,ARSA,G156D |
|
|
4902 |
4900,KCNQ1,L273F |
|
|
4903 |
4901,MUT,R93H |
|
|
4904 |
4902,MTMR14,R336Q |
|
|
4905 |
4903,BRAF,G469L |
|
|
4906 |
4904,CNTNAP2,I869T |
|
|
4907 |
4905,PTEN,K128R |
|
|
4908 |
4906,VDR,R73Q |
|
|
4909 |
4907,CYP11B1,P42S |
|
|
4910 |
4908,KRT81,E402K |
|
|
4911 |
4909,SLC26A2,T512K |
|
|
4912 |
4910,CYP21A2,V238E |
|
|
4913 |
4911,PSEN2,T122P |
|
|
4914 |
4912,GBA,Y251H |
|
|
4915 |
4913,NBN,R215W |
|
|
4916 |
4914,SI,G1073D |
|
|
4917 |
4915,GALT,S135L |
|
|
4918 |
4916,PHKA1,G223R |
|
|
4919 |
4917,ABCB7,V412L |
|
|
4920 |
4918,WT1,C428G |
|
|
4921 |
4919,SCN5A,S1709L |
|
|
4922 |
4920,ACADS,A192V |
|
|
4923 |
4921,ROBO2,A1236T |
|
|
4924 |
4922,HNMT,T105I |
|
|
4925 |
4923,STAR,R182L |
|
|
4926 |
4924,HNF4A,M373R |
|
|
4927 |
4925,SCN4A,R672G |
|
|
4928 |
4926,NIPA1,T45R |
|
|
4929 |
4927,CACNA1A,I1810L |
|
|
4930 |
4928,GNE,M202V |
|
|
4931 |
4929,GHRL,L60M |
|
|
4932 |
4930,ABCA4,A1762D |
|
|
4933 |
4931,BEST1,Y85H |
|
|
4934 |
4932,FZD4,R417Q |
|
|
4935 |
4933,GJB1,T55I |
|
|
4936 |
4934,NF2,Deletion |
|
|
4937 |
4935,ADAMTS13,C951G |
|
|
4938 |
4936,PAH,L311P |
|
|
4939 |
4937,MFN2,K357N |
|
|
4940 |
4938,KCNQ3,G310V |
|
|
4941 |
4939,WAS,R86L |
|
|
4942 |
4940,CDAN1,F868I |
|
|
4943 |
4941,CLN5,Y374C |
|
|
4944 |
4942,PLP1,T43I |
|
|
4945 |
4943,SIX5,T552M |
|
|
4946 |
4944,FGF8,P26L |
|
|
4947 |
4945,CYP1B1,R368H |
|
|
4948 |
4946,AVP,G54R |
|
|
4949 |
4947,CYP1B1,G232R |
|
|
4950 |
4948,MUT,G215S |
|
|
4951 |
4949,BSCL2,N88S |
|
|
4952 |
4950,ITGA2B,G418D |
|
|
4953 |
4951,LRP5,R494Q |
|
|
4954 |
4952,FLCN,A445T |
|
|
4955 |
4953,TUBA1A,R402H |
|
|
4956 |
4954,GCDH,V400M |
|
|
4957 |
4955,DCX,D62N |
|
|
4958 |
4956,VHL,L163P |
|
|
4959 |
4957,F8,G92V |
|
|
4960 |
4958,LRP5,R570W |
|
|
4961 |
4959,CDH23,P240L |
|
|
4962 |
4960,AR,E2K |
|
|
4963 |
4961,HPRT1,G140D |
|
|
4964 |
4962,APTX,H201R |
|
|
4965 |
4963,HEXA,M301R |
|
|
4966 |
4964,SRD5A2,G196S |
|
|
4967 |
4965,GBA,G364R |
|
|
4968 |
4966,CFP,G298V |
|
|
4969 |
4967,PPARG,V290M |
|
|
4970 |
4968,ALDH3A2,C214Y |
|
|
4971 |
4969,ALAS2,T388S |
|
|
4972 |
4970,OAT,Y55H |
|
|
4973 |
4971,CYP17A1,F93C |
|
|
4974 |
4972,SOX18,W95R |
|
|
4975 |
4973,CFI,R317W |
|
|
4976 |
4974,SERPING1,R466H |
|
|
4977 |
4975,GBA,N227S |
|
|
4978 |
4976,ASS1,R157H |
|
|
4979 |
4977,HUWE1,R4187C |
|
|
4980 |
4978,F8,R1708H |
|
|
4981 |
4979,PTEN,V133I |
|
|
4982 |
4980,TRPV4,P19S |
|
|
4983 |
4981,ARSA,R290C |
|
|
4984 |
4982,F8,Y450N |
|
|
4985 |
4983,HSD11B2,D223N |
|
|
4986 |
4984,RUNX1,S291fsX300 |
|
|
4987 |
4985,NT5C3A,G280R |
|
|
4988 |
4986,FGFR3,FGFR3-TACC3 Fusion |
|
|
4989 |
4987,NEU1,F260Y |
|
|
4990 |
4988,NKX2-5,R190C |
|
|
4991 |
4989,FKTN,G125S |
|
|
4992 |
4990,AVP,Y21H |
|
|
4993 |
4991,PRPS1,H193Q |
|
|
4994 |
4992,HFE,V59M |
|
|
4995 |
4993,MPDU1,G73E |
|
|
4996 |
4994,MFN2,Q276R |
|
|
4997 |
4995,FBLN5,R71Q |
|
|
4998 |
4996,IQSEC2,Q801P |
|
|
4999 |
4997,RP2,R118L |
|
|
5000 |
4998,CYP4V2,G61S |
|
|
5001 |
4999,GALE,N34S |
|
|
5002 |
5000,TOR1A,D216H |
|
|
5003 |
5001,ARSB,C117R |
|
|
5004 |
5002,CFTR,G480C |
|
|
5005 |
5003,NOTCH1,L2429V |
|
|
5006 |
5004,PEPD,G278D |
|
|
5007 |
5005,AAAS,L430F |
|
|
5008 |
5006,ADAMTS13,T196I |
|
|
5009 |
5007,BRCA1,L1564P |
|
|
5010 |
5008,TP53,L330H |
|
|
5011 |
5009,DLC1,T959A |
|
|
5012 |
5010,ACADM,G195R |
|
|
5013 |
5011,AICDA,M139V |
|
|
5014 |
5012,CFTR,G551S |
|
|
5015 |
5013,CASR,E297K |
|
|
5016 |
5014,IL12RB1,C198R |
|
|
5017 |
5015,ITGA2B,R358H |
|
|
5018 |
5016,PKLR,T384M |
|
|
5019 |
5017,TMPRSS6,G442R |
|
|
5020 |
5018,CYP1B1,D374N |
|
|
5021 |
5019,MRE11,W210C |
|
|
5022 |
5020,ASPA,A305E |
|
|
5023 |
5021,PRPS1,D183H |
|
|
5024 |
5022,CCBE1,C102S |
|
|
5025 |
5023,PAX6,R242T |
|
|
5026 |
5024,TGIF1,P192R |
|
|
5027 |
5025,ASPA,D249V |
|
|
5028 |
5026,LAMP2,W321R |
|
|
5029 |
5027,GJB4,T85P |
|
|
5030 |
5028,AR,R841C |
|
|
5031 |
5029,CYLD,E747G |
|
|
5032 |
5030,INF2,R218W |
|
|
5033 |
5031,ATRX,C1614R |
|
|
5034 |
5032,SCO1,P174L |
|
|
5035 |
5033,GUCY2D,R838C |
|
|
5036 |
5034,GPD1L,E83K |
|
|
5037 |
5035,ANTXR2,G105D |
|
|
5038 |
5036,OXCT1,V221M |
|
|
5039 |
5037,NOTCH3,R133C |
|
|
5040 |
5038,PDHA1,L216F |
|
|
5041 |
5039,SCN4A,A1156T |
|
|
5042 |
5040,ACADS,W177R |
|
|
5043 |
5041,PLA2G6,R632W |
|
|
5044 |
5042,PPP1R3A,D905Y |
|
|
5045 |
5043,FAM20C,R549W |
|
|
5046 |
5044,SLC26A4,T193I |
|
|
5047 |
5045,CPOX,R331W |
|
|
5048 |
5046,FOXC1,I87M |
|
|
5049 |
5047,HAL,R208L |
|
|
5050 |
5048,HFE,Q127H |
|
|
5051 |
5049,SYNE1,V8339L |
|
|
5052 |
5050,TSHR,F525L |
|
|
5053 |
5051,CNGA3,T291R |
|
|
5054 |
5052,IL23R,R381Q |
|
|
5055 |
5053,GAN,R138H |
|
|
5056 |
5054,UGT1A1,N400D |
|
|
5057 |
5055,FGF10,G138E |
|
|
5058 |
5056,FGFR3,N540K |
|
|
5059 |
5057,SYNE1,R8024H |
|
|
5060 |
5058,SLC52A3,R132W |
|
|
5061 |
5059,PPOX,R168C |
|
|
5062 |
5060,GALNS,T312S |
|
|
5063 |
5061,KRT9,R163Q |
|
|
5064 |
5062,ESCO2,W539G |
|
|
5065 |
5063,CLCN5,R350P |
|
|
5066 |
5064,TGFBI,F540S |
|
|
5067 |
5065,DDR2,S768R |
|
|
5068 |
5066,TRIM37,S287N |
|
|
5069 |
5067,NF2,F62S |
|
|
5070 |
5068,ABCC2,R768W |
|
|
5071 |
5069,PIM1,P81S |
|
|
5072 |
5070,GBA,D179H |
|
|
5073 |
5071,CYP1B1,Y81N |
|
|
5074 |
5072,CFTR,G91R |
|
|
5075 |
5073,POF1B,R329Q |
|
|
5076 |
5074,PHF6,K234E |
|
|
5077 |
5075,CRELD1,P162A |
|
|
5078 |
5076,WRN,K125N |
|
|
5079 |
5077,AAAS,Q15K |
|
|
5080 |
5078,DNM2,G358R |
|
|
5081 |
5079,TBX19,S128F |
|
|
5082 |
5080,F9,R384P |
|
|
5083 |
5081,G6PD,D211V |
|
|
5084 |
5082,NR0B1,Y380D |
|
|
5085 |
5083,SLC7A9,T123M |
|
|
5086 |
5084,KNSTRN,P28S |
|
|
5087 |
5085,F8,Y473C |
|
|
5088 |
5086,KRT2,T479P |
|
|
5089 |
5087,MYO15A,N2111Y |
|
|
5090 |
5088,PANK2,R278C |
|
|
5091 |
5089,POMT2,Y666C |
|
|
5092 |
5090,POU3F4,L317W |
|
|
5093 |
5091,ADAMTSL2,R113H |
|
|
5094 |
5092,OSMR,I691T |
|
|
5095 |
5093,NKX2-5,K183E |
|
|
5096 |
5094,JAK2,G417P |
|
|
5097 |
5095,WDR35,E626G |
|
|
5098 |
5096,KCNV2,G459D |
|
|
5099 |
5097,MEFV,T267I |
|
|
5100 |
5098,CFTR,S549N |
|
|
5101 |
5099,ELAC2,S217L |
|
|
5102 |
5100,FIG4,D53Y |
|
|
5103 |
5101,PCCB,T428I |
|
|
5104 |
5102,AKT1,Amplification |
|
|
5105 |
5103,ABCG8,D19H |
|
|
5106 |
5104,F12,T328R |
|
|
5107 |
5105,F8,T2173I |
|
|
5108 |
5106,HMCN1,Q5345R |
|
|
5109 |
5107,PMP22,D37V |
|
|
5110 |
5108,RAB27A,A152P |
|
|
5111 |
5109,NOTCH3,C455R |
|
|
5112 |
5110,NR0B1,L381H |
|
|
5113 |
5111,HCN4,S672R |
|
|
5114 |
5112,FLVCR2,A326V |
|
|
5115 |
5113,CD40LG,S128R |
|
|
5116 |
5114,SCN5A,A997S |
|
|
5117 |
5115,ARSA,T410I |
|
|
5118 |
5116,IDUA,R89Q |
|
|
5119 |
5117,CLN8,R24G |
|
|
5120 |
5118,F8,R612C |
|
|
5121 |
5119,PPARG,R397C |
|
|
5122 |
5120,HSPB1,S135F |
|
|
5123 |
5121,NOTCH3,R169C |
|
|
5124 |
5122,CFTR,D1270N |
|
|
5125 |
5123,SUMF1,C336R |
|
|
5126 |
5124,LGI1,L232P |
|
|
5127 |
5125,PRSS1,K23R |
|
|
5128 |
5126,GJA8,E48K |
|
|
5129 |
5127,NDUFAF6,Q99R |
|
|
5130 |
5128,FLNA,P637Q |
|
|
5131 |
5129,B3GALNT1,E266A |
|
|
5132 |
5130,MCOLN1,R403C |
|
|
5133 |
5131,G6PD,R257L |
|
|
5134 |
5132,PYGM,E655K |
|
|
5135 |
5133,AFG3L2,N432T |
|
|
5136 |
5134,MTHFR,M581I |
|
|
5137 |
5135,NAGS,E433D |
|
|
5138 |
5136,KCNQ4,L274H |
|
|
5139 |
5137,TYR,L216M |
|
|
5140 |
5138,GALNT12,T491M |
|
|
5141 |
5139,MEF2A,G283D |
|
|
5142 |
5140,ARSB,L72Q |
|
|
5143 |
5141,PRKN,T240M |
|
|
5144 |
5142,F5,I387T |
|
|
5145 |
5143,BRCA2,V211I |
|
|
5146 |
5144,CYBA,R90Q |
|
|
5147 |
5145,TPP1,R206C |
|
|
5148 |
5146,CRLF1,W76G |
|
|
5149 |
5147,JAK2,R277K |
|
|
5150 |
5148,FOXP2,R553H |
|
|
5151 |
5149,KCNQ1,R583C |
|
|
5152 |
5150,SH3BP2,R415Q |
|
|
5153 |
5151,SCN4A,G1306A |
|
|
5154 |
5152,ITGB2,G169R |
|
|
5155 |
5153,SMO,W281C |
|
|
5156 |
5154,F9,T342M |
|
|
5157 |
5155,GCH1,M211I |
|
|
5158 |
5156,NTRK1,R744P |
|
|
5159 |
5157,CPT2,R503C |
|
|
5160 |
5158,CLN5,R112H |
|
|
5161 |
5159,SGSH,E447K |
|
|
5162 |
5160,RBBP8,K337E |
|
|
5163 |
5161,DHCR24,E191K |
|
|
5164 |
5162,SH2D1A,T68I |
|
|
5165 |
5163,EIF2B5,R195C |
|
|
5166 |
5164,ALAS2,D190V |
|
|
5167 |
5165,HLCS,V550M |
|
|
5168 |
5166,THAP1,F81L |
|
|
5169 |
5167,CPT2,P227L |
|
|
5170 |
5168,KLF6,A123D |
|
|
5171 |
5169,SPRED1,V44D |
|
|
5172 |
5170,STK11,G135R |
|
|
5173 |
5171,PMM2,C9Y |
|
|
5174 |
5172,F8,T137I |
|
|
5175 |
5173,FGF8,F40L |
|
|
5176 |
5174,DYSF,R2042C |
|
|
5177 |
5175,FKTN,A114T |
|
|
5178 |
5176,GLA,T410A |
|
|
5179 |
5177,MYO1A,S910P |
|
|
5180 |
5178,TP53,C176R |
|
|
5181 |
5179,SELENON,R466Q |
|
|
5182 |
5180,IRF6,R400W |
|
|
5183 |
5181,PMM2,G117R |
|
|
5184 |
5182,F8,I494T |
|
|
5185 |
5183,CASR,N118K |
|
|
5186 |
5184,SCN9A,I1461T |
|
|
5187 |
5185,PRPS1,Q133P |
|
|
5188 |
5186,LPL,C266W |
|
|
5189 |
5187,OPA1,R290Q |
|
|
5190 |
5188,ANO5,C356R |
|
|
5191 |
5189,MYO15A,T2205I |
|
|
5192 |
5190,SIX3,W113C |
|
|
5193 |
5191,KRT83,E407K |
|
|
5194 |
5192,FGFR2,N549H |
|
|
5195 |
5193,GCNT2,R383H |
|
|
5196 |
5194,HSD17B3,R80Q |
|
|
5197 |
5195,MAD1L1,R59C |
|
|
5198 |
5196,SLC7A7,G54V |
|
|
5199 |
5197,FAM126A,L53P |
|
|
5200 |
5198,FGF14,F150S |
|
|
5201 |
5199,ALK,F1174C |
|
|
5202 |
5200,HESX1,R160C |
|
|
5203 |
5201,HADHA,E510Q |
|
|
5204 |
5202,HEXB,S62L |
|
|
5205 |
5203,KERA,N247S |
|
|
5206 |
5204,TBC1D24,D147H |
|
|
5207 |
5205,SLC5A5,T354P |
|
|
5208 |
5206,OTOF,L1011P |
|
|
5209 |
5207,GDF5,P436T |
|
|
5210 |
5208,EFNB1,P54L |
|
|
5211 |
5209,UROS,L4F |
|
|
5212 |
5210,TSHR,I167N |
|
|
5213 |
5211,OCA2,M394I |
|
|
5214 |
5212,KRT86,E413D |
|
|
5215 |
5213,MET,X1006_splice |
|
|
5216 |
5214,SMAD4,G386D |
|
|
5217 |
5215,TMC1,D572N |
|
|
5218 |
5216,BAAT,M76V |
|
|
5219 |
5217,MCCC2,P310R |
|
|
5220 |
5218,G6PD,C299Y |
|
|
5221 |
5219,KEAP1,G333C |
|
|
5222 |
5220,SRD5A2,A228T |
|
|
5223 |
5221,MTHFR,A222V |
|
|
5224 |
5222,RAD54B,N593S |
|
|
5225 |
5223,AKR1D1,P198L |
|
|
5226 |
5224,TTPA,H101Q |
|
|
5227 |
5225,GJC2,S48L |
|
|
5228 |
5226,IHH,E95G |
|
|
5229 |
5227,ABCA12,N1380S |
|
|
5230 |
5228,ADA,R101Q |
|
|
5231 |
5229,BTD,D444H |
|
|
5232 |
5230,PRKAG2,R531Q |
|
|
5233 |
5231,TRMU,G272D |
|
|
5234 |
5232,GUCY2D,I949T |
|
|
5235 |
5233,CACNA1H,E282K |
|
|
5236 |
5234,TUBB3,A302T |
|
|
5237 |
5235,TARDBP,K263E |
|
|
5238 |
5236,VKORC1,R58G |
|
|
5239 |
5237,SCNN1B,S82C |
|
|
5240 |
5238,CTSA,Y267N |
|
|
5241 |
5239,POMGNT1,R442C |
|
|
5242 |
5240,MYBPC3,V1125M |
|
|
5243 |
5241,TP53,V272M |
|
|
5244 |
5242,MYOT,S60F |
|
|
5245 |
5243,F8,E409G |
|
|
5246 |
5244,CSRP3,L44P |
|
|
5247 |
5245,SLC22A5,W351R |
|
|
5248 |
5246,CLDN19,G20D |
|
|
5249 |
5247,RDH12,S175P |
|
|
5250 |
5248,FXN,I154F |
|
|
5251 |
5249,UGT1A1,Y486D |
|
|
5252 |
5250,GP1BA,M255V |
|
|
5253 |
5251,PPARG,R288H |
|
|
5254 |
5252,ITGB2,G273R |
|
|
5255 |
5253,DOLK,C99S |
|
|
5256 |
5254,EIF2B1,N208Y |
|
|
5257 |
5255,GBA,P440L |
|
|
5258 |
5256,DYNC2H1,M3762V |
|
|
5259 |
5257,SLC11A2,R445C |
|
|
5260 |
5258,SIX1,Y129C |
|
|
5261 |
5259,CUL4B,R572C |
|
|
5262 |
5260,PPOX,D349A |
|
|
5263 |
5261,AHI1,R723Q |
|
|
5264 |
5262,GJB3,A194T |
|
|
5265 |
5263,ABCC8,V187D |
|
|
5266 |
5264,SHH,V332A |
|
|
5267 |
5265,MTRR,I22M |
|
|
5268 |
5266,PDGFRA,CDK5RAP2-PDGFRA Fusion |
|
|
5269 |
5267,ALDOB,A175D |
|
|
5270 |
5268,ADAMTS13,C1213Y |
|
|
5271 |
5269,SCN4A,V1293I |
|
|
5272 |
5270,SACS,W3248R |
|
|
5273 |
5271,F8,R550H |
|
|
5274 |
5272,PTS,N52S |
|
|
5275 |
5273,GDF5,L373R |
|
|
5276 |
5274,G6PD,A365T |
|
|
5277 |
5275,RRM2B,G229V |
|
|
5278 |
5276,GLA,P40S |
|
|
5279 |
5277,TBX5,I54T |
|
|
5280 |
5278,PROC,V339M |
|
|
5281 |
5279,BBS1,E234K |
|
|
5282 |
5280,PSTPIP1,A230T |
|
|
5283 |
5281,STS,W372R |
|
|
5284 |
5282,PEX7,G217R |
|
|
5285 |
5283,CYP27B1,T321R |
|
|
5286 |
5284,OTC,R129H |
|
|
5287 |
5285,LPAR6,G146R |
|
|
5288 |
5286,PPT1,R122W |
|
|
5289 |
5287,ESPN,R774Q |
|
|
5290 |
5288,PINK1,H271Q |
|
|
5291 |
5289,HEXA,D258H |
|
|
5292 |
5290,F8,R1800C |
|
|
5293 |
5291,F8,R2169H |
|
|
5294 |
5292,CDKL5,R175S |
|
|
5295 |
5293,F8,R2326Q |
|
|
5296 |
5294,MCCC1,D532H |
|
|
5297 |
5295,MKKS,H84Y |
|
|
5298 |
5296,IHH,V190A |
|
|
5299 |
5297,FOXP3,A384T |
|
|
5300 |
5298,CHST6,C102G |
|
|
5301 |
5299,GAA,P545L |
|
|
5302 |
5300,SPTLC2,G382V |
|
|
5303 |
5301,SLC25A19,G177A |
|
|
5304 |
5302,F9,S11T |
|
|
5305 |
5303,CASR,C582Y |
|
|
5306 |
5304,PDE8B,H305P |
|
|
5307 |
5305,SOX9,K173E |
|
|
5308 |
5306,BUB1B,T40M |
|
|
5309 |
5307,EGLN1,H374R |
|
|
5310 |
5308,GCDH,T416I |
|
|
5311 |
5309,CASR,L773R |
|
|
5312 |
5310,WNK4,D564A |
|
|
5313 |
5311,MFSD8,Y121C |
|
|
5314 |
5312,MYLK2,A87V |
|
|
5315 |
5313,PHOX2B,G197D |
|
|
5316 |
5314,MCCC1,R385S |
|
|
5317 |
5315,TFAP2B,A275D |
|
|
5318 |
5316,GATA3,Deletion |
|
|
5319 |
5317,FBP1,F194S |
|
|
5320 |
5318,PDSS1,D308E |
|
|
5321 |
5319,MTHFR,L323P |
|
|
5322 |
5320,NHEJ1,R57G |
|
|
5323 |
5321,RPS6KA3,G75V |
|
|
5324 |
5322,NLRP3,D303N |
|
|
5325 |
5323,F8,H1867R |
|
|
5326 |
5324,PRKAG2,N488I |
|
|
5327 |
5325,ATP7A,N1304S |
|
|
5328 |
5326,HGD,G161R |
|
|
5329 |
5327,F8,L1775F |
|
|
5330 |
5328,PMP22,M69K |
|
|
5331 |
5329,COMP,C468Y |
|
|
5332 |
5330,VWF,V1607D |
|
|
5333 |
5331,MVK,V377I |
|
|
5334 |
5332,WFS1,K634T |
|
|
5335 |
5333,BTK,R307G |
|
|
5336 |
5334,TLR1,S602I |
|
|
5337 |
5335,SLC29A3,G437R |
|
|
5338 |
5336,GALE,L313M |
|
|
5339 |
5337,EVC2,I203R |
|
|
5340 |
5338,HSD17B10,E240Q |
|
|
5341 |
5339,ASAH1,L198V |
|
|
5342 |
5340,CLCN5,S590P |
|
|
5343 |
5341,HNF1A,Deletion |
|
|
5344 |
5342,BTK,G613D |
|
|
5345 |
5343,EYA1,L505R |
|
|
5346 |
5344,GLA,W162R |
|
|
5347 |
5345,RPGRIP1,D1114G |
|
|
5348 |
5346,SEMA4A,D345H |
|
|
5349 |
5347,TBX1,G310S |
|
|
5350 |
5348,CACNA1A,T666M |
|
|
5351 |
5349,RDH5,Y281H |
|
|
5352 |
5350,CFTR,Y563N |
|
|
5353 |
5351,BRAF,Q257R |
|
|
5354 |
5352,PAH,S273F |
|
|
5355 |
5353,D2HGDH,I147S |
|
|
5356 |
5354,HESX1,I26T |
|
|
5357 |
5355,MAT1A,A55D |
|
|
5358 |
5356,GJB6,V37E |
|
|
5359 |
5357,KCNJ10,T164I |
|
|
5360 |
5358,LPIN2,S734L |
|
|
5361 |
5359,LBR,R372C |
|
|
5362 |
5360,CSRP3,W4R |
|
|
5363 |
5361,CAV3,L87P |
|
|
5364 |
5362,F9,E73V |
|
|
5365 |
5363,ATRX,R1742K |
|
|
5366 |
5364,VDR,R391C |
|
|
5367 |
5365,SH2D1A,R55L |
|
|
5368 |
5366,GPC3,W296R |
|
|
5369 |
5367,BTK,E589G |
|
|
5370 |
5368,HLCS,L216R |
|
|
5371 |
5369,BMP15,Y235C |
|
|
5372 |
5370,KRT86,A118E |
|
|
5373 |
5371,ASAH1,Y52C |
|
|
5374 |
5372,SLC35C1,T308R |
|
|
5375 |
5373,L1CAM,S1194L |
|
|
5376 |
5374,C1GALT1C1,E152K |
|
|
5377 |
5375,RAI1,S1808N |
|
|
5378 |
5376,GPHN,N10Y |
|
|
5379 |
5377,TRIM32,R394H |
|
|
5380 |
5378,KRT2,N186D |
|
|
5381 |
5379,YARS2,F52L |
|
|
5382 |
5380,SETBP1,G870S |
|
|
5383 |
5381,CYB5R3,L73P |
|
|
5384 |
5382,STXBP1,C180Y |
|
|
5385 |
5383,WDR36,D658G |
|
|
5386 |
5384,GDF5,C400Y |
|
|
5387 |
5385,G6PD,E186K |
|
|
5388 |
5386,BARD1,C557S |
|
|
5389 |
5387,NCF2,R395W |
|
|
5390 |
5388,SUOX,G530D |
|
|
5391 |
5389,SLC26A2,A133V |
|
|
5392 |
5390,HTRA2,G399S |
|
|
5393 |
5391,MCFD2,I136T |
|
|
5394 |
5392,GDAP1,R282C |
|
|
5395 |
5393,PTEN,D19N |
|
|
5396 |
5394,FOXP3,F324L |
|
|
5397 |
5395,PDSS2,S382L |
|
|
5398 |
5396,FLNA,S1186L |
|
|
5399 |
5397,POMT1,G65R |
|
|
5400 |
5398,TWNK,S369Y |
|
|
5401 |
5399,F8,D135G |
|
|
5402 |
5400,NF1,M1035R |
|
|
5403 |
5401,CANT1,R300H |
|
|
5404 |
5402,TARDBP,Q331K |
|
|
5405 |
5403,CFTR,N1303K |
|
|
5406 |
5404,PIP5K1C,D253N |
|
|
5407 |
5405,PTPN11,R498W |
|
|
5408 |
5406,SLC39A4,Q303H |
|
|
5409 |
5407,DNM2,R465W |
|
|
5410 |
5408,HSPB1,P182L |
|
|
5411 |
5409,PTEN,R130Q |
|
|
5412 |
5410,CYP27A1,R474Q |
|
|
5413 |
5411,ZFP57,H458D |
|
|
5414 |
5412,ARSB,G137V |
|
|
5415 |
5413,TSEN54,A307S |
|
|
5416 |
5414,LRRK2,I1122V |
|
|
5417 |
5415,ALAS2,H524D |
|
|
5418 |
5416,DHCR7,W248C |
|
|
5419 |
5417,DOCK8,K473R |
|
|
5420 |
5418,F8,E1723K |
|
|
5421 |
5419,UROS,P53L |
|
|
5422 |
5420,SCO2,E140K |
|
|
5423 |
5421,ACVRL1,W50C |
|
|
5424 |
5422,HPRT1,D194N |
|
|
5425 |
5423,MKKS,G52D |
|
|
5426 |
5424,SUMF1,R349W |
|
|
5427 |
5425,ABCC6,D1238H |
|
|
5428 |
5426,FLT3,K602_W603insYEYDLK |
|
|
5429 |
5427,AR,R775H |
|
|
5430 |
5428,GBA,C381G |
|
|
5431 |
5429,SGSH,R150Q |
|
|
5432 |
5430,PRODH,L289M |
|
|
5433 |
5431,NR0B1,I439S |
|
|
5434 |
5432,TP63,R343Q |
|
|
5435 |
5433,ING1,C171S |
|
|
5436 |
5434,RDH5,S73F |
|
|
5437 |
5435,FHL1,C209R |
|
|
5438 |
5436,FGFR3,I538F |
|
|
5439 |
5437,CCND3,D286_L292trunc |
|
|
5440 |
5438,SGSH,R245H |
|
|
5441 |
5439,RPS6KA3,R114W |
|
|
5442 |
5440,EYA1,R440Q |
|
|
5443 |
5441,POLH,K535E |
|
|
5444 |
5442,RP1L1,R45W |
|
|
5445 |
5443,BTD,R79C |
|
|
5446 |
5444,ABCD1,R617H |
|
|
5447 |
5445,BTK,Y334S |
|
|
5448 |
5446,VDR,V346M |
|
|
5449 |
5447,CPT1A,G710E |
|
|
5450 |
5448,RDH12,Y226C |
|
|
5451 |
5449,COX10,D336V |
|
|
5452 |
5450,PRCD,C2Y |
|
|
5453 |
5451,AKT2,BCAM-AKT2 Fusion |
|
|
5454 |
5452,HLCS,G581S |
|
|
5455 |
5453,RAB27A,A87P |
|
|
5456 |
5454,PHKA2,T1114I |
|
|
5457 |
5455,SEMA3E,S703L |
|
|
5458 |
5456,DPYS,W360R |
|
|
5459 |
5457,MCCC2,R155Q |
|
|
5460 |
5458,GPR143,S152N |
|
|
5461 |
5459,ABCC2,I1173F |
|
|
5462 |
5460,GCDH,A421V |
|
|
5463 |
5461,VWF,F1514C |
|
|
5464 |
5462,CLDN16,G198D |
|
|
5465 |
5463,TMEM67,Q295P |
|
|
5466 |
5464,KIT,V560del |
|
|
5467 |
5465,PTEN,H123R |
|
|
5468 |
5466,GUSB,L176F |
|
|
5469 |
5467,SCN4A,G1306V |
|
|
5470 |
5468,SMARCAL1,I548N |
|
|
5471 |
5469,PITX3,S13N |
|
|
5472 |
5470,SLC19A3,E320Q |
|
|
5473 |
5471,MPO,L572W |
|
|
5474 |
5472,PHKA2,R186H |
|
|
5475 |
5473,IRF6,R45Q |
|
|
5476 |
5474,NF1,L2067P |
|
|
5477 |
5475,GBA,F252I |
|
|
5478 |
5476,DYNC2H1,I1240T |
|
|
5479 |
5477,GALT,R333W |
|
|
5480 |
5478,KRT9,M157T |
|
|
5481 |
5479,F8,V345L |
|
|
5482 |
5480,SLC36A2,G87V |
|
|
5483 |
5481,ARHGEF10,T332I |
|
|
5484 |
5482,NAT2,R197Q |
|
|
5485 |
5483,SCN5A,D1275N |
|
|
5486 |
5484,EFHC1,D210N |
|
|
5487 |
5485,FUT1,L242R |
|
|
5488 |
5486,CLCN7,L766P |
|
|
5489 |
5487,RET,E511K |
|
|
5490 |
5488,MYO7A,N458I |
|
|
5491 |
5489,ARL6,G169A |
|
|
5492 |
5490,CLCNKB,R438C |
|
|
5493 |
5491,RS1,R102W |
|
|
5494 |
5492,STAR,V187M |
|
|
5495 |
5493,SPAST,D441G |
|
|
5496 |
5494,TLR4,D299G |
|
|
5497 |
5495,AVP,V67A |
|
|
5498 |
5496,NPC1,V950M |
|
|
5499 |
5497,UROD,Y311C |
|
|
5500 |
5498,CYBB,H101R |
|
|
5501 |
5499,SCN4A,R675W |
|
|
5502 |
5500,CTNNB1,G34A |
|
|
5503 |
5501,PAH,G46S |
|
|
5504 |
5502,SLC26A4,S133T |
|
|
5505 |
5503,SLC17A5,H183R |
|
|
5506 |
5504,CYP27A1,R479C |
|
|
5507 |
5505,FBLN5,S227P |
|
|
5508 |
5506,NHLRC1,P69A |
|
|
5509 |
5507,CYP21A2,H63L |
|
|
5510 |
5508,CHIT1,G102S |
|
|
5511 |
5509,CTNNB1,D32G |
|
|
5512 |
5510,KRT9,L160V |
|
|
5513 |
5511,PAH,L48S |
|
|
5514 |
5512,ATL1,L157W |
|
|
5515 |
5513,TWNK,R303Q |
|
|
5516 |
5514,CNGB1,G993V |
|
|
5517 |
5515,BRCA1,P1812A |
|
|
5518 |
5516,SGSH,S66W |
|
|
5519 |
5517,SAMHD1,H123P |
|
|
5520 |
5518,OPRM1,N40D |
|
|
5521 |
5519,ARSB,H393P |
|
|
5522 |
5520,SEPT9,R88W |
|
|
5523 |
5521,G6PD,E398K |
|
|
5524 |
5522,CYP4V2,I111T |
|
|
5525 |
5523,SCN5A,N1324S |
|
|
5526 |
5524,PAPSS2,T48R |
|
|
5527 |
5525,GJC2,Y272D |
|
|
5528 |
5526,GUSB,R382C |
|
|
5529 |
5527,GCH1,D134V |
|
|
5530 |
5528,PTEN,A121G |
|
|
5531 |
5529,F7,F328S |
|
|
5532 |
5530,EDAR,R375H |
|
|
5533 |
5531,NFE2L2,D29N |
|
|
5534 |
5532,FHL1,C153R |
|
|
5535 |
5533,LRRK2,I2020T |
|
|
5536 |
5534,PHKA2,H132P |
|
|
5537 |
5535,PROP1,F117I |
|
|
5538 |
5536,BEST1,R141H |
|
|
5539 |
5537,ORAI1,R91W |
|
|
5540 |
5538,DDB2,K244E |
|
|
5541 |
5539,PDHA1,R10P |
|
|
5542 |
5540,CYB5R3,C204R |
|
|
5543 |
5541,SCN4A,S804F |
|
|
5544 |
5542,AR,Y764C |
|
|
5545 |
5543,AVP,A19T |
|
|
5546 |
5544,F8,N1941D |
|
|
5547 |
5545,LIPH,W108R |
|
|
5548 |
5546,CFTR,Q1071P |
|
|
5549 |
5547,CLN5,C126Y |
|
|
5550 |
5548,GBE1,Y329S |
|
|
5551 |
5549,MTHFR,R377C |
|
|
5552 |
5550,CFTR,R347L |
|
|
5553 |
5551,GARS,P298L |
|
|
5554 |
5552,ABCC2,R1150H |
|
|
5555 |
5553,MTHFR,R157Q |
|
|
5556 |
5554,ATM,Y2677C |
|
|
5557 |
5555,MLH3,E1451K |
|
|
5558 |
5556,ATP7B,R778L |
|
|
5559 |
5557,CHST6,K174R |
|
|
5560 |
5558,HPRT1,I132M |
|
|
5561 |
5559,FLNB,G1586R |
|
|
5562 |
5560,FGD4,M298T |
|
|
5563 |
5561,VCP,R95G |
|
|
5564 |
5562,SELENON,G273E |
|
|
5565 |
5563,ZMPSTE24,W340R |
|
|
5566 |
5564,PTEN,G129D |
|
|
5567 |
5565,AR,V731M |
|
|
5568 |
5566,DNAI1,G515S |
|
|
5569 |
5567,SLC26A2,N425D |
|
|
5570 |
5568,GBA,R159Q |
|
|
5571 |
5569,GHRL,Q78L |
|
|
5572 |
5570,LPL,D207E |
|
|
5573 |
5571,NF1,L508P |
|
|
5574 |
5572,ARFGEF2,E209K |
|
|
5575 |
5573,BSND,G10S |
|
|
5576 |
5574,BUB1B,Q921H |
|
|
5577 |
5575,AKR1D1,R261C |
|
|
5578 |
5576,EFHC1,C259Y |
|
|
5579 |
5577,CLCNKB,A204T |
|
|
5580 |
5578,TRPM1,P611H |
|
|
5581 |
5579,HSD17B3,R80W |
|
|
5582 |
5580,TECTA,R1890C |
|
|
5583 |
5581,MAP2K1,L115P |
|
|
5584 |
5582,HEXA,R178H |
|
|
5585 |
5583,BCKDHA,G290R |
|
|
5586 |
5584,TRPM6,S141L |
|
|
5587 |
5585,DPYD,R886H |
|
|
5588 |
5586,NPHP1,G343R |
|
|
5589 |
5587,FKRP,P448L |
|
|
5590 |
5588,CBS,R266K |
|
|
5591 |
5589,GIGYF2,D606E |
|
|
5592 |
5590,SDHD,H145N |
|
|
5593 |
5591,WT1,D464N |
|
|
5594 |
5592,CYB5R3,V106M |
|
|
5595 |
5593,F8,W2248C |
|
|
5596 |
5594,DYNC2H1,M1991L |
|
|
5597 |
5595,HOGA1,R70P |
|
|
5598 |
5596,PAFAH1B1,R241P |
|
|
5599 |
5597,HNF4A,V380I |
|
|
5600 |
5598,ZNF513,C339R |
|
|
5601 |
5599,F9,P101A |
|
|
5602 |
5600,MAP2K4,S251N |
|
|
5603 |
5601,NAGLU,R482W |
|
|
5604 |
5602,MYO15A,G1831V |
|
|
5605 |
5603,HEXB,K121R |
|
|
5606 |
5604,EXT1,R340L |
|
|
5607 |
5605,BTK,R562P |
|
|
5608 |
5606,STS,H444R |
|
|
5609 |
5607,TBX5,Q49K |
|
|
5610 |
5608,ARHGAP26,N417S |
|
|
5611 |
5609,VHL,N90I |
|
|
5612 |
5610,TBX22,T260M |
|
|
5613 |
5611,GPC3,A569T |
|
|
5614 |
5612,F8,E1904K |
|
|
5615 |
5613,ABCA3,N568D |
|
|
5616 |
5614,SCN5A,R1511W |
|
|
5617 |
5615,SLC26A4,V138F |
|
|
5618 |
5616,AVPR2,R137L |
|
|
5619 |
5617,TSHR,S281N |
|
|
5620 |
5618,FECH,F423S |
|
|
5621 |
5619,WDR36,A449T |
|
|
5622 |
5620,ITGA2B,G273D |
|
|
5623 |
5621,SLC6A20,T199M |
|
|
5624 |
5622,BSND,R8L |
|
|
5625 |
5623,LARGE1,W495R |
|
|
5626 |
5624,ALDH9A1,C140S |
|
|
5627 |
5625,RAPSN,A189V |
|
|
5628 |
5626,MAP2K1,H119P |
|
|
5629 |
5627,MSH2,P622L |
|
|
5630 |
5628,ATM,V2424G |
|
|
5631 |
5629,MTHFR,W339G |
|
|
5632 |
5630,HTR2C,C23S |
|
|
5633 |
5631,KRT2,E487D |
|
|
5634 |
5632,FGF8,H14N |
|
|
5635 |
5633,RDH12,I51N |
|
|
5636 |
5634,TLL1,V238A |
|
|
5637 |
5635,HFE,S65C |
|
|
5638 |
5636,CYP27B1,R389H |
|
|
5639 |
5637,RPS6KA3,R729Q |
|
|
5640 |
5638,VSX1,R166W |
|
|
5641 |
5639,MTM1,E157K |
|
|
5642 |
5640,D2HGDH,V444A |
|
|
5643 |
5641,DMD,Y231N |
|
|
5644 |
5642,ANKH,G389R |
|
|
5645 |
5643,DCX,R59L |
|
|
5646 |
5644,ADSL,R190Q |
|
|
5647 |
5645,HSD17B3,A56T |
|
|
5648 |
5646,CD96,T280M |
|
|
5649 |
5647,HPS3,R397W |
|
|
5650 |
5648,FKTN,R179T |
|
|
5651 |
5649,DARS2,L613F |
|
|
5652 |
5650,TP53,G245C |
|
|
5653 |
5651,ALG12,T67M |
|
|
5654 |
5652,ACOX1,Q309R |
|
|
5655 |
5653,CLDN19,Q57E |
|
|
5656 |
5654,MLH3,N499S |
|
|
5657 |
5655,GJB1,F235C |
|
|
5658 |
5656,LRP5,G171V |
|
|
5659 |
5657,TGFBI,R124S |
|
|
5660 |
5658,CYP2C9,I359L |
|
|
5661 |
5659,HSD17B3,M235V |
|
|
5662 |
5660,CAV3,A46V |
|
|
5663 |
5661,ABHD5,E260K |
|
|
5664 |
5662,NR3C2,S818L |
|
|
5665 |
5663,SLC46A1,R113S |
|
|
5666 |
5664,FOXC1,L130F |
|
|
5667 |
5665,GSS,R267W |
|
|
5668 |
5666,CTSK,G79E |
|
|
5669 |
5667,DFNB59,T54I |