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