Datasets:
August Prendergast
August-P/
Huntingtons-Disease
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# Patient_ID Age Sex Family_History HTT_CAG_Repeat_Length Motor_Symptoms Cognitive_Decline Chorea_Score Brain_Volume_Loss Functional_Capacity Gene_Mutation_Type HTT_Gene_Expression_Level Protein_Aggregation_Level Random_Protein_Sequence Random_Gene_Sequence Disease_Stage Gene/Factor Chromosome_Location Function Effect Category
1 b2a49170-8561-4665-9371-2240b55dd87a 31 Male No 67 Moderate Severe 8.8 3.2 94 Deletion 1.67 0.58 DAHKIRSPMRVGPHYYAQCDNNDTGSDKEHWLKTEAAPMTMDRTVESSSS GCCAGCAGCGCCCGAGCGTATGAGGTATATGGATTGGACATTGGGCCTCATCTATAAATTGGAATTTCGAACTGCTACACCCTAACTTGCGTATGTATTG Middle HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
2 f5fae45d-8718-41c4-a957-6928f79f3c8e 33 Female Yes 38 Severe Moderate 3.24 5.98 50 Point Mutation 0.18 0.3 PANGFWYHNCLRFWNIPPYVMEGFPLADITEVHKWRVSGFMCWETQIRDH AGTTTTCAGTGAGACTCTTCCCCAAAAGCCTCCACTACGACAGTGTCACTACGTGTGGGATGTCTGTCCGCTGCTACCATCGCCATCGTTTGAGGACTTT Pre-Symptomatic HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
3 66ab0567-050b-4d56-9ec4-b676309899a6 69 Male Yes 37 Severe Moderate 1.01 2.82 69 Duplication 0.9 1.04 NWHEGHGASTWKATMVAWCLMVQHAVTWKEGNTRCREMSCMNFTQLTWFR TATACCACCAGTGGGAAGAGTAACGATTTTGGAGCGCCCCGAGTCCCTCGGCCTCGGCTGCCTAGCGAGTTGCCCAACTGAACAGAGCAATCGATCTCGG Early MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
4 996a48e4-e841-418f-a539-5a7a86cd815d 66 Male Yes 50 Mild Severe 3.21 6.77 76 Deletion 1.16 1.87 KCVQYIQATQMLVQSWGQRNPIMQSSEPDRAHDYESGTPKTYTYMLVDCC GCGCGACCGACCAAAGGACCCATGGTGGTGATCTGTCATTGGATTCATCTACAACCACCTGTGGGTTAATCTTAGCTGTGTTTCTTTTCTGTCCGTCCAG Pre-Symptomatic MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
5 d45c7ca8-7125-4aaa-8018-5bbc60d35a1f 43 Female Yes 48 Moderate Mild 2.31 7.53 70 Insertion 1.85 2.94 DQPGNMTRQNKNHCMWRAKRPTKHPGHKPGEIDKEKSEQNDADSSAYWDW GGGACCGCGGTTCTAGAAGAGAGGTTCTCTGACCGCCGAAGGATTCGATAGATTCGGGCGACTTCGACACAGTACATTATAGGAAACACGCTTAGAAAGA Late HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
6 38cea144-1280-42cb-9362-dbf0f4aafe3b 58 Female No 58 Moderate None 2.03 3.34 78 Insertion 0.44 4.93 IFWCKNCCIMRAFASCNTDTAMIQFTQFALLEKGKNHYGQHAQFIHSLQI GAAAGCCGTGATAGCGACCAACACTCCTTCCTTGGTCTTCGTTGTCATGCTTACAAAATCCCTATCGCCATATCCTGGAAGTACTCTTCGACGTACTTTA Middle MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
7 10760159-d219-4a4f-b374-f25ebeb1f9a6 80 Female Yes 50 Moderate None 9.48 2.5 87 Point Mutation 1.42 3.45 TTYSCYFQCRWETCFVWHKSFTIVVDADVQDQSMQNHDSMTQFPICSMRQ AACGGAAAGCGGAATAATGCTATGATTTATGACACTGGAGGCCAGACTACCGCGGTGGGTCCTTGATGTACATAGCAACGTACGTAGGATAACCCCGAAG Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
8 a1b11cb4-5e8e-4c8a-b03c-c924b535f258 36 Male Yes 78 Moderate Severe 9.32 3.88 3 Deletion 2.13 2.44 IRMGMCNTIMMGFVALCYWNWHYQKSKWVGDSTRSNPPGELWVLDRKMPS AGTATTTCAAGTACGTGTTACGTCCACGTACGGATATGGCCTCTGGATGATATAGGCCAAATCTAATTTCGAGCCGGACTGCCAGAGTGAGCACGCCTGA Pre-Symptomatic HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
9 2a1348aa-5682-481d-8742-6e5996a3114e 80 Female No 71 Mild Mild 2.57 4.68 20 Duplication 2.02 0.45 QRLMSLYGMNLNEGTEVVFFLHTKMPTFHTTPLGIKYADAHDIEFMAQAK CATGTGCCCCCCAGGGCTCGTAGAGGGTGGTCTCCGATCACCAGATCCCAGCCACCCAGTGCAGAGCCGACACAGCACATCAATAGCTAGCGTTGTAGAG Early MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
10 d6041244-bc4a-4c5e-8f74-44ebc22bfa26 48 Male Yes 66 Moderate None 8.6 3.67 39 Deletion 1.14 0.58 ATYDQHHVMGRFWHMFIIYRRCHVMKVLLLFPIYFACIDGLRVDEGAFTH CAGTTCCATGCCACAATGTGTGACCGAGAACGCCGTGAGGTTCTAGGCAGAATGTCTCAGCTTTTTGCAGCTACATCGAAAGTCTCGCGGTTGATGTGTT Early HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
11 1bcd9c0e-1881-493f-8f95-2d5209aed381 57 Male No 46 Mild Mild 4.8 6.28 75 Deletion 2.34 1.24 ASDPTVKHSWTMPKVMLLEVIEFFMHQDSKPFDWISIPVFFHNPCDDYWY GACCAGCATTTCCGGCGGCCTCGGATCTCAACGAACGTCACAACTGTAACGCTGGGTAGCCTGCCGGCCCCTCCACCCAGAGTTAACTGTCACATTTGAC Pre-Symptomatic HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
12 441c7e28-0a78-4e2b-856c-17375513e666 61 Male Yes 65 Severe Mild 4.05 6.9 86 Deletion 1.39 2.22 NEYAHLYMVCDSKEDQPRVSAHYCCRQVHVWTEKIQPTMCHQSMDHEIYM ATTCTTTCCGAGGCCTGCTGCATCCGGTCCCTTCGGTAATGGAGTGAGCGCGCAGAAGTGGCGTTCCGAGAGTATTGGCCGCTTGGAAAACGCTTAATAT Late MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
13 9067a33a-127f-4bba-90e0-9011c6e5fcff 42 Female Yes 80 Moderate Severe 0.3 5.39 82 Duplication 2.33 3.66 DDKLDDQDKPDDNPVLYEPWWDNLCPQTMTKFTPWKIYGAHHSLCRNVDM AACTCCAGTGTCCCGCGTGAGTCCTTAGCTGGAATTAGTTTGCTTCCCACTTAACCGACTTAAACACCTACTCTAGGTCGGAGGAATCTCGTCTTACTGA Pre-Symptomatic HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
14 6b810346-1ce6-41f2-9b73-d734eec044d2 46 Male Yes 46 Mild None 8.25 7.31 14 Point Mutation 1.85 2.08 EGHYIEDRRLTADAEHSTYYFPVISMSMSAFDGERQYLMWQTIPSLFYPR TTTCGTCGGGAGCGTGCCAATGATAATGCTACGGGACCTACACAATCATTTGCAGGGCGCATTACCAGCCAAAGGATCTAGACCACGAGCTCCTGGAGCA Pre-Symptomatic MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
15 88d8d79b-d327-4662-aadf-8daed5e5de58 72 Male Yes 65 Severe Severe 2.77 7.59 55 Duplication 2.05 2.33 VHWLASWNYPEQNTRTCRKMEIDFQRDKEPEGGSMNHAGDGTGNMSYNEM TATAGGATTCTAAAGACCCGTCTTGTCGCTCTGTGCAAAAATTTCGGGTAGGGGAAGTGCAGATAGGTAAAACCGACAGACCGTGTCATCGCTTCACCTT Pre-Symptomatic HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
16 b38241c7-d568-4929-a55a-6c14a5afa3f3 41 Female Yes 54 Mild Severe 1.9 6.26 95 Point Mutation 0.19 2.63 LFRLIMPEIVYVNGYYIWNRRIWPGKPWSIAIFMMEMDHHPGISRPWTFG TAGTTCCAACCCTCATTTCTCAGCTGAAAACCACTGCGTTAGGAAAGTAACCGAGTAAGTGTAATGCAGCGTCTGATATGTGCTGTCCTGTGTACAACTG Pre-Symptomatic HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
17 74c21b1c-26df-416a-9e65-9ea46505f89b 71 Female Yes 45 Mild Mild 3.84 5.91 57 Insertion 0.62 1.43 IKWLKHICDPHKFFVDPMQEMILSMSADTGSFEKVIQMNLDGSMFVDRNQ TTCCGTTGACGGTCCCATTTCCCTAGCGGCTCGACAGCTGACTTGCAATGACCCGCGCTTTTGTCTCCGGTCGTTAGATTTAGCTTGGCGTGTCACAACG Pre-Symptomatic MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
18 20d6f4f9-6477-40f9-a3da-31c9c3ce73ec 77 Male No 61 Severe Moderate 2.51 7.58 3 Duplication 1.49 1.87 IRMQLRDHDRDVPEDTWVRRHEPSKFTTYNVSQGRNVRFCPAFQTCYGGG GGAGGTTGATCGTCCTTCGGATACTTATCTCTAGAATCTAGGGTGATAACTCTACTAAGGCGTATAGTACATATTGTACAGAGTCATGGCTAGCACATAC Late MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
19 705aa0b3-29e4-40a3-af4a-f5b36e13230c 61 Male Yes 58 Moderate Mild 3.65 4.57 67 Point Mutation 0.94 3.5 RDMAFQEKYRTVHSMTFENRALKPDMMQSPMPFSHFWRYTSYSSAWAGCC GCTTTTGAGCATTATGCGACAGCAGTCGCAACCTCTAATAGTCTTGAAACCCGGACATAGAATGGAGTGAAAGGATCGACCAATCTGTCGATACTCATAT Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
20 6f44b05a-df6d-4f98-9a3d-19670da3f840 57 Male Yes 62 Severe None 5.06 5.0 67 Deletion 1.32 0.33 GYANYIAAIDNQVRFQATYPTTTHMEMSSPGCKNVPTAMTAGYDTENPDY CAGTTTCCTAAACCGCGTTTCAGGAGGCAGTCCAGATAGCTCGCGATGCAGATTGGGAGGCATTAATACGTGCACGCAAATCTATGCAACAGTACGAGAA Middle HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
21 89d2e361-61f9-45ec-a391-00974e095964 39 Male Yes 76 Mild None 7.1 4.28 40 Point Mutation 2.27 2.82 ADAGMTMLCKGRKKFKPYFLLGCGCSAAIERRMVNKGTDWFLEPPCSMHM GATCGTGCCCTGAATAAGAGCGATCTCTCGAAGATTGCAAGCCGTCCCGCAGCCGGTGATGCACGGCTCCTAACCGAAAGGAGCACCTCATCTGCACCAC Early MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
22 ac50010f-996b-458c-90b6-0150b7093966 58 Female Yes 47 Mild Mild 2.95 5.89 70 Insertion 0.38 2.75 PNEDHMNLTHTPMAPNEICPYVSFRPRFGSSGKFEMCLASANLYFLLHDY GTACCCAAGAGTCGACACCGTTGTATTAGTAGGGATGACTTCACCCTACGGGTGGCCTTCTCTATTTCTAGTCGTGTTTGGACACTAGAATTTTGAAAGG Early HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
23 4218eeab-0e80-46a9-9bab-8d6ead0a4cd5 41 Female No 51 Mild None 3.04 7.24 27 Duplication 2.47 0.52 RDLKTIHEPISAGYFHCSHHQSIAAGYWKVWGFNSHCFAHTLLAVQQGPA TGATCCATTAGAAACATGAAATCATGTGCCACCAACCTTCTCGGCAATCTCAACGGTCGGTGAAACCCGCTGTTCTTACGACCAGATCATTCTGCAATGT Middle HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
24 88ab4d9e-a77e-4343-a68e-fe9a81d022be 54 Female Yes 49 Moderate Severe 8.57 3.16 2 Point Mutation 0.52 3.65 HTYWNERYSMQKMKYYETDFLATDTGNAGFELWYDHKFFHMPSYICCHPN GGAAAAACCATTATGAGCCGTACTCCTTTAAAACGTGGTGAGCAATCTGGAGCAGGAGAGGAGGCTGAGTATTTAATAGCAACTGAGGATGACAAGGTGG Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
25 2976acb3-6fee-41e0-a548-c24c94641f9b 63 Male No 72 Moderate Moderate 1.41 3.46 34 Insertion 2.02 0.16 ACAAHGCVICMMVTFWGHQLVRPITPEHGKPYASVMQAGAKCWEHFRLIW AGGGAGACCGGTAAGCCCACTGGGGTGTGCAGCTCTTCAGCGCCCAGTTGAGTCAGCGCCCTAGGACCTAGTCTGCCTGATTTAGGTCACTCCTGCGGCG Late MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
26 32cda42a-032f-4663-af4f-b492e6cf79c0 62 Female No 66 Mild Moderate 6.44 3.01 89 Point Mutation 0.23 0.99 YGKVEFDVSHLACIEKNNFALGHIDIEYSLKDTDAPQQFKINNLKVFQKS GTTTTGGGCGTTAGACAGGCATGGATTCAAACGCTAAGCAGTATGTTTCGACTACATGTCTTCCAATGTCTCTCCCTCAACCTCATGTATCGCTTTCGTC Late HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
27 29d2fbf8-ce83-4009-802b-78e3353bde60 74 Female No 61 Severe Severe 8.33 3.75 95 Duplication 1.6 1.02 YKLSISYLSSEWFCTMGLLDYDWYFECWCDSNPLVQPDTVDWARMNSHKW GATATAGCCTAGCAGGACCCATCCGGCCCTGAAGGGCAAAGTCCCGGCTCATTTTCTCAACTGGACTAGCATATTCCGTCCCACGAACACAGCTGGTAAA Early HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
28 10ba3610-00c7-40d0-be4b-0ddae10db949 34 Female Yes 51 Mild None 8.36 7.39 9 Insertion 0.74 2.55 LMAATGIWRYFIWNSSQGYTCENKSIFLQDQHRDMYYKMFCDFSGWNAFY ATTATAGAGTGTAATAGTGTAAAGCTATGTATGCCTCCATCGAGTTAAGACACATGTTCCTCAACGAAAAGCCCACGCTTAAGAGGGGTCTCCATACTCT Early MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
29 b89e5dc4-fbfe-4c99-a497-ebf0b4bf9aab 80 Female No 76 Severe Severe 3.6 2.4 90 Duplication 1.16 1.0 QVRFITNHDHWREQWMLDTIYWNWMPFTPQGNTWYVQWMCKSQNPGHETS TTAGGCGCGGGCGTGTGGGGGGCACTTGATACGAGGCGCGTCCCGTGCCCCGTGTCGAGTATGCTTTACGCGTCGAGCTATTTCGGAACAACCGAGGTAT Middle MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
30 2518e86e-023f-4a78-a4c8-6c6e5393144b 74 Female No 65 Severe Severe 2.12 8.05 6 Point Mutation 1.53 3.86 KTFYVENSRSWIIAFSTPIALKLKLWRHDENQCKNEMNMNMVVLMGGRIV ATGCGCCTTGCTTGACTAGCCAAACGCTGCCGCACAACACTACGTGTTAGATCCGACCATAGTGCTTCGAGTGATTACAGAACAGAAGGGTGCCTGGGAA Middle HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
31 8f75c35f-c2bb-492b-83d6-071005a91272 34 Male Yes 38 Moderate Mild 8.18 6.64 26 Point Mutation 0.66 0.9 WTKDCMMENDQARPYEKVYPRATARQWETASRIGNFIDPKKVAGSHLMKH CGTCCGGCACATATGGTCGACGCTTTATTGCTTTCTTGGAAGCGCCATTTCCATTGCTATCTCCTGCAATCCTTTACTCCCACACAAACTTATGACACAG Pre-Symptomatic MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
32 8015d8bf-e1ee-419f-a6e6-bf4b24fd7297 57 Male Yes 67 Moderate Moderate 4.74 2.93 67 Deletion 1.28 4.28 SGKTVNYADNNMAHQMGCLTNWIQKLYWPMHGPFTESGPVTTCHMEISDF TAGTTTTACATAAGGTCGCATTGTTTTAAATCCGATTTTTGGTATTTACACACCTCACAGGACCATGATAGAGACGTACTGCCCAATAAGCCGACTTATT Late HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
33 2d4852ba-cd16-4301-a142-52a7e412b1c6 53 Male No 65 Severe None 0.01 2.14 28 Insertion 2.41 4.53 WNVIFYEHPPHVMGQVNIKSQEVMGSHVTTETYIRIGPPNVSDLRRIGAH TCGACATATTTCGAGTAGCCCGGTTTTCTGGTCTCTACACACACTGCCATGACCCTCATTCCACACGGTGAGTCATTTGCAGTCAGCCATCTCTCAGTAT Middle HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
34 f4497dff-2dc1-431f-8f51-cf85b381978c 37 Female Yes 42 Mild Moderate 4.83 2.31 7 Deletion 0.42 1.76 VHSRIAKNCQHLILCQVITKFLFEPMWMAPYWQCSVKSNWCSCYNRMLVG AGTAAACAAAGTGTCAGGTTCAAGCGTCTGCTAGTGCAGAAGAGATACGTTGTGGCAGTTTAATGCAGTCGCTTCAAATTGGGTGTATACATTCGGTTGC Early MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
35 5fa03719-5ad2-4ef5-b060-82a4e82b3128 37 Male No 75 Moderate Mild 9.77 7.45 43 Duplication 0.4 2.18 VMACPVIMYQCCIFRMPWGYLKPLWMMINLWRTQCQDLGSGMLQALLVSR AACTGTGGCGCTTATGCGCGTGACGACGTATTACAATCAGCGAATTAATTATTAACGAAAATTGGATGCACGGGAAGACATGGGCTCGAATCGCGTCGGT Late HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
36 9c3aa227-b329-4559-8dec-5d3e705fba26 68 Female No 52 Moderate Severe 8.19 7.26 55 Duplication 2.44 2.71 HMGWSSAFIKIDMGGEWTHAFRVEGASCAHFSVCEWKPRVIAQTCRMIDF GCGGGAGCGGGGTATTCGCCATACCCCTAGCAGACGATGTACTCGGGACTTACGGCATAGGAGGGCCGTTGTTCACTATCCCCATCTGGGCGGTATATGC Early MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
37 a4abdb05-1199-4d9e-af25-b84c9533c1e1 48 Male Yes 40 Mild Moderate 2.12 3.78 19 Duplication 0.37 2.91 ATNMHAHRRMQRERHDPLFRHRAWTHEIARGTCSHNGHFDRMRMPFAIGW AAGGCCTCTGTTGCCGGGTACCTGGCTTCTAAGCAAGTTTATTTGTTTTAAACGCCAACCAGATGAGGCGTAGTGTCTCTACCTTTACGGGGTCGGGGCA Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
38 257a3e6b-c05c-448f-ab00-e92202cb41e9 52 Male No 74 Mild Severe 0.22 3.41 31 Point Mutation 0.22 4.66 KAWRKNVAELQMPAAPIMDNGAQDKAFFVAVIDYNHQFPFSLSVWTSTHK TCTCCATCACGAAGTCTCCCATCACGGTGGGGCCGCTATCCTGCAACATTAGGCGTAGGAGATTGGTTACTAGTGATAAAGTGAGATGCGGATTACATTG Pre-Symptomatic MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
39 ca939c4e-cb03-45df-a0f8-030450881bdc 49 Male Yes 72 Severe Severe 3.66 4.47 92 Deletion 0.5 0.5 REITRRYHMDKVRIRVAHKSRATVPLLKAIYWQLYFPSISYTKMCSQDRG TTGATCCATCTCGATGACCGGTAGTCTTGAATGTAATTGTTGTGCACTTGTAATCATCTTCGACCCGTCTTGCAGAGAATATTCTGCCGCGGCGTTGATG Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
40 6101a7f1-79fc-4fcf-ba48-89fa8fff3be9 64 Female Yes 61 Moderate Moderate 2.43 5.54 89 Deletion 0.67 3.94 TATATLLWYPREDQQANHPSCRMNWFEQKMHGIGMSGYHDIQQCKPQTFP TATACGTGTGCCCCAAGTCTACCAGAATCGATGAGCAGATGTTGATCTATGGCGGCAGATGTATAAGGCCTCCTCGTTGCTTTCGAGCCTGCAAAAACGA Pre-Symptomatic MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
41 b719d704-591c-4372-8ea8-e6472bc38b73 35 Female Yes 51 Severe Severe 7.76 6.66 3 Duplication 0.98 2.43 EIYVIEWKRAYPFSRTPWVCDYGKREWYCMHMYKCGKTMAFFQTFLATLN TGAGCCCTACGCAATGACGACGATTCAATAGAGCATAATATTCTCACAACAACTTGTCAGGAAAAAAAACGTCATCCACCTCCTCTGAAACTGGATCCGC Middle MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
42 b6a548ca-bfb4-4b27-aa79-b3034a4e3073 71 Female Yes 63 Moderate None 6.28 7.42 84 Duplication 1.29 1.82 SILRKTMENWTYVPPLTYWLHFTESRTLSSRVDGKNLRPEDTCCDPSAKY AGGGCCACGGGTCGATCCGTTCCTAGCCACTTTACCTGCGGCGACTTTACCGGCGTCTCGTAAGACAAGAGCGGATCCAAATACCATGGAGATCTCATAG Pre-Symptomatic HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
43 32531f38-8c53-42e9-9add-260a031cd471 36 Male Yes 39 Severe None 4.94 5.23 1 Duplication 0.18 2.73 KLHRAGYHKLQEQLWETAEKAGIAERDFKSIHDFHEWDTNMIQSRCRMHT AGGCAAAACCTGTTCGTTTAAACGTCTCAAGGTTTCGCAATCCAGCTCCATGCTGGATCCAGTCTCCTATGCAACAGACCGCGCGTTACGACGATTCTCC Late HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
44 69bff576-7d28-44a5-abe6-154ac1daa131 79 Male No 51 Mild Moderate 9.8 6.17 13 Insertion 1.12 0.4 EMSLNMTQSHWGCAKVDIADPRYEFGNFKRRGVDTYNWDTKIQPMLAYNG GAAACTTACCGATGCTCACTCCACGGGGACGACGTAACTGCTGGCAGAACGGGTGTTGTGCCCTTGCCCCTGACGTCTAATCATTGACGTAACGGGCAAA Middle MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
45 529cdbaf-d853-4514-909b-13396f0845a3 30 Male Yes 42 Mild Mild 2.5 5.39 44 Insertion 0.48 4.86 DRHMKGFSEEKTPKPCGPCPTIWGKRDDKTVEAGYDHRWVARMFVHQHDA AATTCGCCTTCCCCTGGCGATCGGACGTCTGGTGTCAATGTCTATTCGTCAGTCACTTAGAAGTAGATAAAATTAAGGTCCTCAGAGTTGCTCTCTCAGC Pre-Symptomatic HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
46 6b2a52b6-05e6-471c-8bed-8a922338d410 65 Male Yes 41 Moderate Mild 0.83 6.69 14 Point Mutation 1.83 3.71 WNFAVFHYGDEVRQWEEGVQIIRTPMMRCPPMRNYQAAHWLSGGSYSSDP ACGTTCGGTAGACGGGCCCGTGACCAGAGAACACATAAACTGTACTACTGAGGTGGGCTGCAAATGCGCCTTGAAACTGGGGCCTGGCCAGGGGGAACTC Early MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
47 22a5cd66-8e0b-41cf-8cbb-7eae822555fa 68 Female Yes 69 Severe Severe 8.9 4.25 68 Duplication 0.29 4.28 DEVLHCERKMICSQPHEDVWAKQWRQIMAKDEWYYRHRPSELRCYHKNYS CAATTCTGGCCAGTCGGTAGAGGGGATAAAACCGGATCTTCGACGACGGCTAGTGACATAATTACCTTAACTGGACCCCCTAGACTTTGGCCAAACGAAT Pre-Symptomatic HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
48 c9aa3b20-2f84-4e37-8d11-09c2f8909ecc 40 Female No 38 Moderate Mild 0.27 3.47 55 Point Mutation 0.23 3.54 HKGANKVKYATIAKQNPMKGGCECGYMKVYKKFDVLWLGTADYRQQCWGY ATGATAATAACTCGGGGCAACTGCCGTTATAGTGTTAGCTAGTGATTCAAGGAAGCCCGCTGCTCTTGCAGCAGGAACTTTAAGATGAGTATGCACACAA Late HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
49 0ce66fe9-17ae-4dcc-819b-5e83f886dd62 70 Male Yes 48 Moderate Severe 8.8 6.63 34 Deletion 0.77 0.22 RICYLAMGSMKETWDYLYNPMKADSALREEEYRIHPLRWLAFCDSWVRDP TACCCGAGGCTCATCACCCCACCCGCAAATCATAGCAAGGGCGCCCCACCGTTAATCAGCGTATAACAAACTATATCAGTTCGACAATCGCTTCGGGATA Early HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
50 f204c285-be50-4294-b3ae-08eb73bd9ba1 50 Male Yes 77 Severe None 8.92 3.42 41 Duplication 0.83 2.64 CSCPHKYASWERILITCDKWRLPSEHKWNTHDRSVFGTEKRFMVVKTMDE ATAGTTTCGGCTGGAGGGAAGATAGTAGGTAGAAACGCATTCCGCGATCTCTAGTGGCCTGCGCTCGCTATCTACTCAGGTGTACAGAACCTTGAGTTAA Pre-Symptomatic MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
51 8577cc75-3f3c-4b2c-a320-da078553b889 63 Male No 47 Mild None 6.35 5.63 25 Point Mutation 1.2 2.22 YCTFAMFEWVALFAQNPNKSQNPGFKYNKMAETGLCKDKGTHKECKSNWV GGGACTATTCTTCGAATCAGGATATCGAGCGTCCGCCAGCTGACCCGCGGCCTACAGGAAACTTTAGCGTGGAACGCTTTTGGCGACGCGGTCTGCGGAG Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
52 29961016-d5d5-4af3-aab9-27fd0e410926 74 Female No 75 Mild Mild 3.65 8.12 38 Point Mutation 0.9 2.11 EVSGAHLHTYVPCCQDQDKKKFRKFKAGPWDRERQWIYNHHNHHCEKIMF AGCGTGCCCTCAAGGGCCAGCTACAAGTTTGCGCCGTGGCTCTAGGACTCATAAGACTGCCGTGGGAGAATAGGATCACGTACATCCGACATCTATCTTC Early HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
53 208124e2-c4ec-4a29-9ad5-979ff168e1db 62 Female Yes 59 Moderate Mild 5.42 4.33 66 Deletion 0.15 1.2 DMQKTFHNGSVPDCQCNRIVLPLNKIMEGDEIMKCHCHCQCPFVSMVVMD CGACTCTAGAAAGCTGATGGGCGATGCTACGCCCCGTGCGCCTATGCCCATGTTCTTCAGCATTGCCGGGTACTCGACGATTCACCTTGAAGTCCTGAAG Early MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
54 56479f0d-7763-4357-9cc1-d098524d2f80 52 Male No 76 Severe Severe 7.12 4.84 72 Point Mutation 0.53 2.87 GTAYNLRESLSMQMMCRMRFLHVQGEDLRSANSPGGMPQSAPKHHATQNP GACAGGGTGTCCTGGTAAGGGACCGCAGCGAGGGCGAGACAACTCGTGGATCCCGTTGCGTTTGAGGGCCATCCGTGAGGGATAACATAAGCGGTCGGTG Pre-Symptomatic HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
55 3e54a2e6-dda2-4a12-a62a-7cd9689eeedb 42 Female No 60 Moderate Severe 3.38 6.26 17 Insertion 1.94 3.32 FNCFYPLVMNVASAPMHLGMRRLKTCGTYMPGDWQFVHLMGCHTFFHDVH CGCTTAACTCTTCTCCCGACAGGTAGGCGACCGGCACGGTGTTCGGTAACTTGAATATACACGGGGTTTTGGATAGCCCACTAAACGTATAGAGTCATCG Early HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
56 38f771b3-8efa-408d-a1e5-2b39f88ad874 65 Female No 75 Mild None 9.95 6.24 40 Insertion 1.36 2.44 TKVPCDQDYHFQVQPLPCCGIYKQANFMDCSTCINIRAEHYNSSLSPPRV GTTTTTGATGCTACTGAGGGGGTCTGAGGTTTCGTATAAATCTACAGGAATTGTCGATATTCAAAAAACGGTGGCAGCCGCTATAGTATCCAAGAAGGGG Middle MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
57 9cead6a8-61d4-4be6-8a02-7a2db72a53e9 77 Male Yes 36 Severe None 7.17 8.17 100 Deletion 1.34 2.95 TNTCNWTSLMILWYRCLIHMVNQNGSMLGILSYMGLTHSIFDWWAWMQAD CGGGCTCGATCAACCTTTCGGATGGCTGTTCCTACGTAGCACGTCTGCCGCTGGCTTACGACTCGGCGCCCGAGTCATCCATTTGGTTCGCGGAGTGCGG Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
58 3a0ecbcb-8d10-4ea0-873e-c68a7a835032 39 Female Yes 67 Mild None 5.81 6.5 50 Deletion 1.88 2.16 MPNMQNWANWEDVPCLGCIEAEMQNKYKFCSQQDYYQYVWQRHRMQKLLR CCAATGGCAACAACTCATACTACAATTCATTGAGCTGTAGCTAAGTACCATGGGACTTCGGTCTCAAAGGTCTCCTTATTATCAAGTTCCGACTAGGTTC Late MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
59 62da0b3f-1438-4936-bf46-7fac49e7694b 63 Female No 73 Severe Mild 0.3 7.15 52 Insertion 2.12 3.08 DWFTPQRGDAEHDDPCPEFNICFCAARITGYFQNTSLTIVKFHMVQCLEY CTACGGTCCTGTGAGAAGCTATTCAAAATACCTTACGATCCGGTGTGTACGTCACTAAGGGTCGCTTAGGCTATGAGCCAGTGAAGACCTGCGGGAACGC Late MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
60 d64e9eb5-0261-466e-bcad-f01dedace67b 75 Male No 77 Severe Severe 1.2 6.55 83 Insertion 0.22 1.61 RVEIRIRFWCQILIQHPSQEPINKPLANYIDREACYTFAYWDDIGICFNY TTGACTTAGGACGTTGAAACGATAGCGCATGGAAGACGGGTCCCTGAGAAGCGCCTAAAGAGGTGAGGATCGGTGTGAGCATTGAAGGCACCAGGTACGG Early MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
61 21a30b50-9b8e-4d26-99c2-e5da5dca22d6 36 Male Yes 78 Severe None 3.39 8.34 91 Insertion 0.19 4.84 KIHVFGPTCVCWQFPPHYPKMYVNAWGGNVMGENYWTPPHNDFAGMRPWC CCAGGGTGGGTCGATGCGTGACAGGCGTTGGCATTCGTGGCGAGTGCCCGCTCATACAATTTAGAAAACGCCCAAGGTAGGTTTATTTTAACCATATCAT Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
62 34fc7a25-baa5-46ff-8117-1d93efe06fcf 34 Male Yes 62 Moderate Moderate 0.18 6.57 52 Insertion 2.34 0.37 MYYPPYFQHGHSYDCDQMFDRVREQQGVLASEIEPMRWIWIPKCRELRYS GGACGTTTTCAGTCTTCCAAGAGTTGTGGTGTCAAATCAGAACATGTCAATGAGACTTGTCCAGGAGGCCTTGGGACGTGCGAGGAAAAGACCTTCATTT Early MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
63 02639a63-45df-4b5c-928d-3eb0c2b16891 30 Male No 59 Moderate Mild 1.21 6.53 88 Deletion 1.15 2.74 RPHRVRGKMWGEFTSSGNIWQKDNHNGMDEDHIEWSTKKNLTSHTRCLGA AATTGACTATTAGATTAATATAGATTTTGGCTGTGCAAATTACTGTGCCGATGCGTTCGCTAATGTAGTTCTGAGTTGGGTCTATTAAGCGTCCCAAGAC Early HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
64 1fe359b2-3efa-4021-b590-3df80fc0cec7 35 Male No 80 Mild Severe 8.91 6.55 14 Point Mutation 1.29 1.3 DTVQMFLWRCSLYQEPPFICDIIKTKKAQLTHEPWQMCDQACICYTTNFF CAGCGTGCCCCAGGAACAGAAAATTGGTGATTACGCGAAGCGTGATTGAGGGACACTGGCCGCATCCACGAAGTTTGTCTTGAACTAAGCCGTGAACAAT Pre-Symptomatic HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
65 e93108f2-6cc8-44dd-894d-8dbaeb994118 58 Female No 35 Severe Mild 6.94 5.58 64 Duplication 1.69 4.66 CMNHSNLQKDCNLDFTHGWHTYMGWMHMMQEMEWSRCPTTFVVTWLMDHK CTTGACAAGGTTCGTCCAGTATCACAGTACGTCTCTACTCTTCCCGGATGTCGAGGGCACCGCTATGAGACGAGCCTGTTCCAACTCGCCTCTGGCGGAG Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
66 d987456d-b19e-4b0a-a71c-992d5939dba7 46 Male Yes 71 Mild Moderate 1.49 7.32 1 Duplication 1.01 0.5 ICGSNHNFYVPYPNRGRIVIVSPNWHTQNRKPNTRCPKHCITQVCCLKEI ATGGTAGCGTTAATGTTCCGCCTTTTCGACGCCAAACAAGGTCGTACCGGGCCGCTGGCAGAATCCACACAGCGAGGAAGTAAAAACCTTGTCCAGAGAC Early MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
67 54af7701-25fe-4a60-9809-ba41cf0ca38d 50 Female No 59 Mild Mild 1.34 5.94 31 Deletion 1.67 0.82 AHSYISPYCIMEDAQYITCVMTTWLRFTVWGYKRACKWAQVQQVKRSGKQ GGACACGACTATGCCTCAATGATCATTTCAAAGAGCTCTACGCATTTTCGCAACGCAAGATTCTGACGTCTGAATTGCCCAACTTTCCGAAGCGGTCAAA Pre-Symptomatic HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
68 85d0ffdc-9cc0-47e2-acb3-416fbed0675d 47 Female No 80 Moderate Mild 8.89 8.23 2 Point Mutation 1.76 3.47 GTAVPMRVQIGAENNCHVEFCCHVPYNTFLFTLWKYYWDEYSWWLCTKCD TTGGAACTTCGAAAAGTGACGCCTCTGCGCCGCCTTTTGGTCCCTATCTGAGCTGCATCAACCTGACAAATAACTGCTACAAGATCAGACGCAGAGAATC Late MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
69 c2236aa7-9762-4017-babc-0b81bd8d9949 49 Female No 57 Mild Severe 5.43 4.8 95 Duplication 1.48 3.19 NWWETGNNFSEIVQAIRLSRWQHTTCAHCRYNVATKVHRQHEELFLGRIC ATGTGATAGTATAAGCTTCCTTGATAGCCCCAACGGAGAATTCGGAAGCGTCTCACACGGACTTCTAATGTAGAACGCAACGACCATACTACTAATTTCG Middle HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
70 38d03603-b1e5-4e6a-a2fc-1638d6759a4b 45 Female No 42 Moderate Severe 5.21 7.16 62 Duplication 2.44 3.05 FYEEMESCMKSCWYTESRLKGVFYHTWGKFYRDEWPSEIQSGAFYSRSCR CCAGAACAGGACGCGCTAAGCTCTCAGGCTACCCTGAATGCGCTCATCGAGGGGCCATCGAAATTTGCTATTGTCACAGCAAGCTCACAGTTCCGGGTCC Early HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
71 6ed7eb0c-ab28-48a5-8cb1-ba7338b48b9d 62 Male Yes 51 Mild Moderate 1.07 5.63 18 Point Mutation 0.73 1.79 ELKAHIQNGSTFYLAVNVIWAGNWMPRDFRIANQSIKWDCRNIYCPRGTT ATAGGTGCAGTAGCCTGTACAGGCTTCGAATTTTGTGAACAACCCCGTTTTCAAACCACATGACGTAGAATGGCGATGAGAGATGTTTTACGCACGTTAC Late MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
72 c2440fae-327a-4241-83a6-b44227038866 33 Female Yes 75 Mild Moderate 9.73 6.51 28 Point Mutation 1.35 0.93 YGDEEIDIARGFHAERPWCHMWTRIPIDMCRNWSCGTCSCPWWKEHIFSK TCCTAAAGTGGTTGGTCTAGATGTTAGAAGAAACATTTTTCGTTCCTATATAGTCTATCAATCTAGACGGTAACCTTGTTACTTACCGTCTTGGGCCGCC Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
73 36589c72-77ca-42f3-bfcc-aca7e4f51f17 71 Female No 75 Severe Mild 3.4 5.27 84 Point Mutation 0.79 1.24 FMSHWNSPTHRAQCYSACRKPDVEDDDAMYQYRSSNCKLHNGLMAEDQMR CTGTACCGCGCATGATTAAACACAAAGGGAATATCACACGGCGCCGACTGAAATTGGCAATCTCGGGCTTAGCAAGAATCCGCCGTTAGCTCGGTTCGAC Early MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
74 d240cc3a-d61e-4b0d-8cee-a430b2d035f1 75 Male No 63 Moderate Moderate 8.23 4.53 49 Insertion 0.52 0.5 LVQLSGVNSKSAHWECWDPVYEIDLPRVPQQNPKYFENCNTCYNGDVIEK ACTATCTGGTGTTCGGGGCATCCACTTAACGTCTGACCTAGTTAACCTGCGGCTTTTTTATTCGGCTTGTCGGGCAGTTCGTTACTGCAGGTTGTCTGAA Pre-Symptomatic HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
75 330c92ec-f68f-4d1b-a817-980260277c63 34 Female No 46 Moderate Mild 0.73 6.78 97 Point Mutation 2.47 2.66 NQHQFYQMTDGMPCGQFDTRAWGLMKFYCDLLAYAEAGTPELHCSQKCYS TGGCAAACTCTTAATTAGGCGATCTAGATACGGCGAACACCTGCCGTTAACTCAAATCAGGGTCATTGTCAGGGCCCCAAACGGGCGACACCCTGTACCC Late HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
76 dee5be07-847e-454f-b1fc-7dd1b91689f1 52 Female No 60 Moderate Moderate 0.06 6.38 50 Duplication 1.26 0.22 LRAHKVMIIPDKPDTNPHKNSHEIIFCNIQLGFGQFHWDEKQWRWMQGVL AACTAAAGGCGCACTGTTGTAAGAAGGCCTACAGGTAAAGATAGCTGGCGTAATCTTGGTACAGGGTAGTTTCCCCGTACGTGTCATGATGGGCACTTCG Late MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
77 46d761f2-d497-4a8a-b6a9-2313e4e4f405 63 Male No 66 Mild Moderate 2.16 7.34 14 Deletion 0.72 4.8 GLISHVELMCLQHRPRPNMNLEILPAIQYLYTTSYVNHLFKIPPYCKGHM ATGTCGGAACGATTGCTGGTGTAGAACACGGCAGGTTCGTCTAAAGTACCTCGACGCGCGGTACGGCTAGCCGTAACTTGTGCAGATTCAAGAAGCACCG Pre-Symptomatic MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
78 272ebe6d-cfc9-43c1-b13a-7a1f4fdbdbc6 31 Female Yes 35 Moderate Moderate 8.01 5.31 3 Duplication 2.1 0.69 SGGFRFHIVGQAWWKNFNCTHICPWYSQEYGVEDSWPIIDPTFGWYPDSF CTTTACATAGACTAAATATTGCGAAGCTCACGGCGCAGACACCAGCATCCAAGACTGGGATGCAGCGTTCCTACTTAGACGCCCAGTGCCGCTGCTGACC Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
79 10e64bf5-ef2f-4d5f-b19e-14cd4518d481 74 Female No 52 Mild None 0.46 4.35 24 Insertion 0.47 2.72 HQDVSSHDTPTAPKYTDKHEYTKLNKHGNRWKFQDIMALYTKKTIVNFKR ACTGCTTAGATGGAATATCGTCTCATTCTACTGGAGCATATACTCGACTTCAGCTCCGGCCGCCATCACGCTCGGCTAGTGACGCCTCCATGATGTACTT Late MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
80 bee08daa-98ce-4e0c-92d9-d0f3a8b29118 77 Female No 61 Severe None 0.1 4.25 77 Duplication 1.07 3.66 KMPCDSWHCMMFRPIIMQSFDANSWGQWQTTDCASTEYTESKLCEYYQME ACATCACCGGTAGGAAGTGTCTAGCAGCGTCGTCTGGGAAGAGGACCCGCAGTACTGACGATTTCAAACAGCTTTGCCGAGTTCGTCTTATGCAAGGTGA Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
81 3c7b3488-51d3-40cb-8335-760d145a5bf6 32 Male Yes 61 Severe None 6.39 2.98 45 Deletion 2.45 3.04 QQCPTGVTLFIPMGLDIEMHIDASYNMDYKNHMTHEERYQDQMNWDEAPD CGCTGAATAAGTCCCCCCGATAGCCGGGGGATGGGCTCGTATGCGGGCAACCACCTTTTAAGATGCAACTTTCAAAAAGTCCATTTACGTGGCAGGATTT Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
82 7e5d0c79-4127-4e6c-ae55-7d1e844eb4d4 37 Male No 68 Severe Moderate 9.19 6.84 35 Insertion 0.91 4.23 FVLWFVPSTTPMRESWTIGTLHPTDIFGFLMMEFNATFCPFAHQNHKKIS TTCCACGTTGTCAAAACATAACTAGATAGCAAATACAGACCTTAATCTAGACCGGCGTCGAGTCCGTTAACGCGGTTTTGAAGATATAGTAGGCAATGGG Late HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
83 eb542478-2bcc-4e24-aaea-622c44a348ce 65 Female No 39 Mild None 1.94 3.4 58 Insertion 0.61 2.99 SLEMCRRPSWESETVVQGPIKSEVAHLRYYGCPWGRERVHVPCPCRPFVG ATTACATAACCTGAGTGACGATATACGCAACGTAGCGGTATGGGCGACGCTTTAGACTTGCCATATCAAATCAGTACTACACGCCATCCAGTAACGTTAA Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
84 d13a7d16-2a6e-4ea7-b190-e88d8d217e20 40 Male No 48 Severe Mild 0.02 7.53 27 Duplication 0.4 4.63 IRSFPWVDKHQTHIWLWDNYSIKYVLEESKMENGNQFGKVMQFFPCHDCQ ATGTGCCTCAAGCGGGAACACCAACGAAGGCTCACTTCTGAGATGGCGTAAGCCGTATATGGGACGGTCCTACCGCGAATCAGAACTCTGGCTGACCGGG Pre-Symptomatic MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
85 1777bbb0-e3dc-483f-b37c-07ebf44c4333 36 Female Yes 57 Moderate Mild 9.72 2.46 78 Duplication 0.96 1.92 EYACMHLMWDHIAYWFPNDARDHRNWWRTYSWWAANNSDTKRSRAFVGWK TCACTGTCTAATTCTTAGCAGTAGTGCTGTGCTAGGTACCTGGCCCTAAAGGCAAGTCTAACTTGACGAATGCTGGTGTCGAGACTTGAGCATATTGTTA Early MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
86 eb665ef3-846d-44f2-b36f-8de876aefe23 75 Male No 76 Severe Mild 1.99 3.55 26 Duplication 0.26 1.71 FGQYNAPVGTNACITCVKTVSAIWIVIFILNECTLTWQGPYKAMVHTAWT AAAAACTTTGTTAGGCGCTTCGGAGTCAGACGTTAATATATCTGACGACCAACTCTCCGTGTTTTGCTTAATTTACATCGTCAAAGACACCATATGTTAT Early HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
87 de0e91b9-fe69-4251-ad98-8b93ee07440b 78 Female No 50 Mild Severe 8.83 5.69 94 Point Mutation 2.27 0.89 RERCNVQHDQPKAGVFKPQPTNPPGKQKMACHRWCKTGFFWCLPLGSHWA AGTCAGTTATCTTCTGAGCTATGAAGTCCTATTGAATGGTATACCGGAGACAGAAGTGCGTAGGAGGAGTGGTATATTGTGTTATGATTTTTCTAGTGAT Pre-Symptomatic MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
88 b683bb21-9c78-4148-a278-d431a3d5d8bf 76 Female Yes 52 Mild None 4.75 7.43 36 Duplication 1.49 1.4 PKPSTIPGMIKWIPIKDIYVNGDWWSTSFKFRECLNVCDNPYHSGEIGSN AACTGATCCGTGACGAATCAAGGTGCGTAGAGCAGGTTCCCAGGCAACTCAGTCGTAGAAGCCGGCCTTTATTGCAGAATCAAGAATAATGCGTACGTGA Late MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
89 2e2998f5-fb80-4205-8af9-d138448bcb89 41 Male Yes 78 Mild Severe 3.72 2.27 42 Insertion 2.46 4.97 DTTKVYHAKYDKGWSNDPMGMQAAMYLCTAGQIKQHESPTSISLLEEDHL GCGGGTTGTCCGCCGCCTACAGCTAACGAGCGAAATTCTGATCTAGATCCACCTGCCACACTGGGCCGACTTACGATCATGATGCGAGAAGACTCCTACG Pre-Symptomatic HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
90 996232a9-b226-49e9-b5c7-6f3379c6ea88 62 Male Yes 75 Moderate Moderate 4.34 5.94 98 Point Mutation 1.78 4.21 NPHYGHCVNCVVKRCLMSENKHEDTCVIMNAQIGTHRPNHTRFHPMKGYP ACTAGGCACTGTAGTTCACCGTACGTGTCACAGCACCCGTAACAGTTATACCTTGTTCTTGAAGGACTCGCTTCGCGTACGCTATGTGCGCCTCGAAGTG Early MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
91 704bbe59-b115-41e4-abff-9f5487abced1 47 Female Yes 71 Severe Severe 7.57 7.13 80 Deletion 0.79 2.53 SFPNSCSLKVNVQVVIKYSEMLRGTFYADLGYPERYHDGWFYHNQTYLFS GAGGCCGCAGTATTAAGCGGATTCGATCACCCCCGATTGTCTTAACACTGGTCGAGCTTACCGCACGAGCTATCCTTATGCGAAAGTAACAGACTGAGGA Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
92 5fdf3521-32bc-4bdc-89f9-f34b4d6fea50 54 Female Yes 43 Mild Severe 6.43 2.33 97 Point Mutation 0.65 0.52 WIAIKLTLKPSTIGEFFNWPVASEYQCNPQMQWWQEYFNLRGCHKWPEYV GGCTGCAAGTCTTTTGATGGGCAAAATAAGTATGTTGCCTTTGGGCTTTATCGTATACTTCTTTTCACTTCACCTGAGAAAAGATGAATAAGAATCGGGT Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
93 c5bd1505-654a-42ad-a1e9-0c81ff56732b 34 Male Yes 66 Severe None 3.83 6.67 21 Insertion 1.78 1.54 YDQYESGRCRWDCWTAREECVFGWANCDMDGMHDHMFPPKKIHAKIRKAR TAGCAAAAGGGAAATAAGTATGGCGGCCAACGGTCTGTTTGGACCCCAGTGCTTGCGTCATTTACCCGTCGGTCCATTAGGGCAACGCTCACTCCCAAAT Late HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
94 caaab5f1-de09-4e49-a59e-3a00b1e20ca4 35 Female No 46 Mild Moderate 4.51 2.32 94 Duplication 0.99 1.22 AGTTHERIDYQHHGSRVGQFLEMNYPFMMVWEKHINCCNFWMHELMFKLV ATTTGTGCGCTTAGTCGCTACTTTAACGCAACCTCAGCACAGTCGAAGATAGAATCGACCGTGTTGATTTTTTAGCTGTTTTGACCCCCACCAGATTAGT Pre-Symptomatic HTT 4p16.3 CAG Trinucleotide Repeat Expansion Neurodegeneration Primary Cause
95 625fd76a-18bc-49b3-a369-918375ce9cf3 48 Male Yes 62 Mild Mild 4.64 3.05 80 Duplication 1.68 3.11 GEIQLYLPWEMLSLCVSNGRWVKCFVSTGWPVVWSLRIREEDGMMVNRYP GTGGGGCTAGATCGCCTAGTCGTGGTGACTGCTTTTAAAGCAGTCCAAGTTGTAGGTACGTGCATATCGACCTGGCATATCTTGGGGACGGCTGGAAGGC Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
96 e10b21f5-6e36-442a-afa2-d042abeadcf5 43 Female No 36 Moderate Mild 1.07 3.39 45 Point Mutation 1.17 2.18 ETESKCEHDNCGQDLVAHQNRLQKAAFSRIYGEGCCHTWAMTCPYFPGVP TTGGACCGAATTTTAACCCCCCCGGTGTACAGCGCCTTTACCCGGCTCAACAAAAACCCTAAACCTAAATATCTCTTGAACGAAGTAAAATCTTCCGCTC Late MSH3 5q14.1 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
97 e72b2265-2306-49f0-960e-31cb77ba34df 65 Female No 44 Moderate Moderate 1.26 8.44 60 Point Mutation 1.15 3.58 YYGLEIFANLPNIKSHNAYEPCKSFDWKQVQYQRHCMYIHWCIFMWFNWV TGAGTTAGCTCTGGGAGAAGCTAAACCTGCCTAGAATTTACGACTTGCGCACACGTGAGTCGCAGCTTTGGAACTTTCAGGAATGTCCTGGGAATATTGC Pre-Symptomatic HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
98 7fb270b1-d91b-4542-9e2e-9b846909acbb 36 Female No 36 Severe Severe 1.61 7.31 90 Deletion 1.57 0.33 RYKKECWLDNIGFNVLWYKMGQENQSRNPTVLYIWSMIETSLCDVLCDAK GGTCACCACAGGAATCAAATTAAGCGGGAAAGACCTCGTTATTTAACTTACCTCTTCATCAATCCGCCTTGACCGCTCAAAACAGCGATCGTTTTGCTCC Middle HTT (Somatic Expansion) 4p16.3 CAG Repeat Instability Faster Disease Onset Cis-acting Modifier
99 422e6f1d-54a3-474b-8b03-77ec83f3fe64 44 Female No 39 Moderate Moderate 9.5 6.6 47 Duplication 2.43 0.51 KILPLNAHGPSHFLWWWFSGHWNRWDWKNVFNAFAEDRDAVVNMMTNPPS CGAAAGTGTTTGCTAGAGCTGCTTGAGTTCCCCCTTAAAATAGTTACCGCATGCGCGGAGGCTGTGATTAACACCCAAGACCGCCGCTAGCTATAACTCA Late MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier
100 ef47b3ae-886c-4481-99a9-fa5a828e97a6 64 Female Yes 49 Severe Mild 0.18 3.5 30 Insertion 1.59 1.19 QHLANNLITNFEDVHAVIVVILPLPCKNGPYLWLSLKGEECHKGQSTGIH AATCGATCTATATTCGAAACGCCCACAGCCGACTTACCGAGGCGCAAAACGGAATGTGAGCTGCCGAACTTACATAGAGCCACTGAAAAAGGATAATGAG Middle MLH1 3p22.2 Mismatch Repair CAG Repeat Expansion Trans-acting Modifier