ClinVar Miner

List of variants reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12084
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HGVS dbSNP
GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1
GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1
GRCh37/hg19 10q23.2(chr10:88615516-88980546)x1
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1
GRCh37/hg19 11p13(chr11:31466566-31714871)x1
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3
GRCh37/hg19 11q13.3-13.4(chr11:70390788-70807254)x1
GRCh37/hg19 11q13.4(chr11:70569854-70873024)x1
GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3
GRCh37/hg19 12p12.1(chr12:23753715-23776824)x1
GRCh37/hg19 12p12.1(chr12:24351933-24436553)x1
GRCh37/hg19 12p12.1(chr12:24559681-24595270)x1
GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1
GRCh37/hg19 12p13.33(chr12:310521-1550563)x1
GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3
GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3
GRCh37/hg19 13q12.11(chr13:19540031-22849981)
GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1
GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3
GRCh37/hg19 13q33.1(chr13:101956482-102666953)x1
GRCh37/hg19 14q24.3(chr14:74040231-76368547)
GRCh37/hg19 14q24.3(chr14:76184204-76201632)x0
GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)
GRCh37/hg19 14q32.31-32.32(chr14:102423214-103518117)x1
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3
GRCh37/hg19 15q13.2-13.3(chr15:30369914-32620127)x1
GRCh37/hg19 15q13.2-13.3(chr15:30371774-32833659)x3
GRCh37/hg19 15q13.2-13.3(chr15:30927362-32929514)
GRCh37/hg19 15q13.3(chr15:32067075-32514341)
GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1
GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3
GRCh37/hg19 15q14(chr15:38466370-38578075)x1
GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2
GRCh37/hg19 15q21.1(chr15:48854702-49041439)x1
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3
GRCh37/hg19 15q25.2-25.3(chr15:85147499-85681120)
GRCh37/hg19 15q26.2-26.3(chr15:98144229-99857338)x1
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3
GRCh37/hg19 16p12.2(chr16:21769324-22435811)x1
GRCh37/hg19 16p12.2(chr16:21769324-22552780)x1
GRCh37/hg19 16p13.11(chr16:16099145-16498084)x0
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3
GRCh37/hg19 16p13.11-12.3(chr16:15509406-18181971)x3
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1
GRCh37/hg19 16q22.1(chr16:67629575-67812055)x1
GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1
GRCh37/hg19 16q22.2-22.3(chr16:71561717-73724195)x1
GRCh37/hg19 16q23.1(chr16:77981957-79037091)x1
GRCh37/hg19 16q24.3(chr16:89481006-89509853)x1
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2
GRCh37/hg19 17p12(chr17:14101029-15449627)x1
GRCh37/hg19 17p13.1(chr17:9489128-9489263)
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1
GRCh37/hg19 17p13.3(chr17:1068393-1560055)x3
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3
GRCh37/hg19 17q11.2(chr17:29015932-30298437)x1
GRCh37/hg19 17q21.2(chr17:38456598-38456659)x1
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1
GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614)
GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3
GRCh37/hg19 18p11.21(chr18:11752397-11881133)x3
GRCh37/hg19 18p11.32(chr18:13034-547239)
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1
GRCh37/hg19 18q22.1-22.2(chr18:64396295-67913141)x1
GRCh37/hg19 18q22.1-22.3(chr18:66179104-68793656)x1
GRCh37/hg19 18q23(chr18:75146662-78014582)
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x1
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x2
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3
GRCh37/hg19 19q13.42(chr19:53793603-53824343)x3
GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3
GRCh37/hg19 1p36.23(chr1:7266936-7408418)x3
GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1
GRCh37/hg19 1p36.33(chr1:568708-1283779)
GRCh37/hg19 1q21.1-21.2(chr1:146501348-147843733)x1
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)x3
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3
GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q42.11(chr1:224346184-224409144)x1
GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3
GRCh37/hg19 1q42.2-43(chr1:234546246-238716872)
GRCh37/hg19 1q43(chr1:240958055-243698867)x3
GRCh37/hg19 1q44(chr1:245341153-249212429)
GRCh37/hg19 20p13(chr20:61568-2010334)x1
GRCh37/hg19 20q11.23(chr20:34959766-34960308)x1
GRCh37/hg19 20q13.13(chr20:49447090-49510400)x1
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1
GRCh37/hg19 20q13.33(chr20:61815143-62318983)x1
GRCh37/hg19 22q11.21(chr22:19156117-19529130)x1
GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674)
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23650873)x1
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3
GRCh37/hg19 22q11.23(chr22:23653987-25158391)
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3
GRCh37/hg19 22q13.33(chr22:51024308-51243435)x1
GRCh37/hg19 2p11.2(chr2:86502663-87430727)x1
GRCh37/hg19 2p13.2(chr2:72503642-72716038)x1
GRCh37/hg19 2p16.1(chr2:60719185-61268266)x1
GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)
GRCh37/hg19 2p16.3(chr2:50743869-50803486)x1
GRCh37/hg19 2p16.3(chr2:50749598-50905296)x1
GRCh37/hg19 2p16.3(chr2:51125057-51803361)x1
GRCh37/hg19 2p16.3(chr2:51147134-51184223)x1
GRCh37/hg19 2p16.3(chr2:51183215-51263065)x1
GRCh37/hg19 2p16.3(chr2:51183370-51370150)x1
GRCh37/hg19 2p16.3(chr2:51216517-51272118)x1
GRCh37/hg19 2p25.3(chr2:1544765-1959942)x3
GRCh37/hg19 2p25.3(chr2:1611691-1861548)x3
GRCh37/hg19 2p25.3(chr2:1734538-2303645)x3
GRCh37/hg19 2p25.3(chr2:1750599-2049792)x3
GRCh37/hg19 2p25.3(chr2:2148352-2203775)x1
GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1
GRCh37/hg19 2q12.1-12.2(chr2:104995799-106679055)x1
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1
GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1
GRCh37/hg19 2q12.3-13(chr2:109301074-110482930)
GRCh37/hg19 2q13(chr2:111388618-113127751)x3
GRCh37/hg19 2q13(chr2:111395603-113251000)
GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1
GRCh37/hg19 2q21.1(chr2:131486951-131933628)
GRCh37/hg19 2q23.1(chr2:148704099-149545055)x3
GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3
GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1
GRCh37/hg19 2q24.3(chr2:166221754-166646820)x1
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1
GRCh37/hg19 2q35(chr2:218271898-219825640)
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1
GRCh37/hg19 3p26.1(chr3:5163403-7918601)x1
GRCh37/hg19 3p26.3(chr3:115780-320034)x1
GRCh37/hg19 3p26.3(chr3:242240-556260)x1
GRCh37/hg19 3q12.2-13.13(chr3:100613996-108976446)x3
GRCh37/hg19 3q13.31(chr3:114422350-114464858)x1
GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)
GRCh37/hg19 3q22.3(chr3:136169095-136305476)x1
GRCh37/hg19 3q26.32(chr3:176895307-177090616)x3
GRCh37/hg19 4p16.3(chr4:1770486-2303110)x3
GRCh37/hg19 4p16.3(chr4:1784694-1919793)x1
GRCh37/hg19 4q31.23(chr4:148916436-149103774)x1
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1
GRCh37/hg19 4q35.1-35.2(chr4:186555741-187379745)x1
GRCh37/hg19 5p15.2(chr5:13167440-14733954)x1
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1
GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1
GRCh37/hg19 5q13.2(chr5:69408016-69408880)x4
GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3
GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1
GRCh37/hg19 5q35.3(chr5:177776148-180687012)
GRCh37/hg19 6p21.1(chr6:42039993-42270812)x3
GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3
GRCh37/hg19 6q21(chr6:110113784-110113868)x0
GRCh37/hg19 6q21(chr6:110113784-110113868)x1
GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)
GRCh37/hg19 6q25.3(chr6:157431664-157482864)x1
GRCh37/hg19 6q27(chr6:167360170-167362113)x0
GRCh37/hg19 6q27(chr6:169854753-170919470)x1
GRCh37/hg19 7p14.1(chr7:42156923-42225427)x1
GRCh37/hg19 7p22.1(chr7:5606650-5974130)x3
GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1
GRCh37/hg19 7q11.22(chr7:69617684-69932353)x1
GRCh37/hg19 7q11.22(chr7:70188374-70236724)x1
GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1
GRCh37/hg19 7q21.3(chr7:94129826-94844077)x1
GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1
GRCh37/hg19 7q31.1(chr7:113593905-113735098)x1
GRCh37/hg19 7q31.2-31.31(chr7:115520087-118098306)x1
GRCh37/hg19 7q36.1-36.3(chr7:152578849-156183328)x3
GRCh37/hg19 8p11.21(chr8:42301152-42354257)x1
GRCh37/hg19 8p11.21(chr8:42693105-42694524)x1
GRCh37/hg19 8p11.21(chr8:42812276-42813614)x1
GRCh37/hg19 8p23.1(chr8:6999219-8881836)x3
GRCh37/hg19 8p23.1(chr8:9952770-10603276)x3
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3
GRCh37/hg19 8p23.3(chr8:184617-2136799)
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
GRCh37/hg19 8q22.3(chr8:102584167-104236192)x1
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1
GRCh37/hg19 9p24.3(chr9:203861-378086)x1
GRCh37/hg19 9p24.3(chr9:203861-525036)x1
GRCh37/hg19 9p24.3(chr9:209753-236828)x1
GRCh37/hg19 9p24.3(chr9:266045-434797)x1
GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)
GRCh37/hg19 9q34.3(chr9:140573688-140685407)x3
GRCh37/hg19 9q34.3(chr9:140688612-140781524)x1
GRCh37/hg19 Xp11.22(chrX:50394843-50659280)x2
GRCh37/hg19 Xp11.22(chrX:53094819-53414375)x1
GRCh37/hg19 Xp11.4(chrX:39952515-40238078)x1
GRCh37/hg19 Xp11.4(chrX:41690431-42036102)x2
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1
GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0
GRCh37/hg19 Xp22.12(chrX:20195835-20727041)x2
GRCh37/hg19 Xp22.13(chrX:18275593-18653790)x1
GRCh37/hg19 Xp22.2(chrX:10381839-10487986)x2
GRCh37/hg19 Xp22.33-22.31(chrX:3649821-6645906)x0
GRCh37/hg19 Xq11.2(chrX:63482413-64425063)x1
GRCh37/hg19 Xq12-13.1(chrX:67637833-68628411)x3
GRCh37/hg19 Xq13.3(chrX:74016853-74178303)x0
GRCh37/hg19 Xq21.1(chrX:76820808-78113526)x3
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3
GRCh37/hg19 Xq25(chrX:122663227-123390103)x2
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3
GRCh37/hg19 Xq28(chrX:153322172-153624604)x2
GRCh37/hg19 Xq28(chrX:153761240-155227607)
GRCh37/hg19 Xq28(chrX:154110363-154417230)x2
M117fs rs1563329555
NC_000001.10:g.(?_119962031)_(119962215_?)del
NC_000001.10:g.(?_215914707)_(215933195_?)dup
NC_000001.10:g.(?_21902216)_(21902427_?)del
NC_000002.10:g.50979873_51700582del720710
NC_000003.11:g.(?_158399774)_(158409266_?)del
NC_000004.11:g.164428194_173480785del9052592
NC_000007.13:g.155559462_155606440dup
NC_000011.9:g.(?_5246595)_(5247135_?)del
NC_000013.10:g.91209639_94704856dup
NC_000013.9:g.94652853_98706628dup
NC_000015.9:g.22751194_23251194del
NC_000022.9:g.19075762_19790658del714897
NC_000023.10:g.154115785_154528181del412397
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.4983C>T rs1556422937
NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) rs766140986
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.5(ACADM):c.218A>G (p.Tyr73Cys) rs1057521114
NM_000016.5(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.5(ACADM):c.253G>A (p.Gly85Ser) rs398123075
NM_000016.5(ACADM):c.355dup (p.Val119fs) rs1553123071
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.708+1G>A rs1553124803
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.739A>G (p.Thr247Ala) rs1057518408
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.4(ACADS):c.302C>T (p.Ala101Val) rs1001298373
NM_000017.4(ACADS):c.313A>T (p.Ile105Phe) rs767155955
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser) rs117356004
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)
NM_000017.4(ACADS):c.812G>T (p.Gly271Val) rs796051902
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser) rs956279629
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr) rs1064793382
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser) rs398123080
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247
NM_000018.4(ACADVL):c.1612del (p.Arg538fs) rs1555528937
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.554G>C (p.Gly185Ala) rs1555528181
NM_000018.4(ACADVL):c.566T>C (p.Ile189Thr) rs1567563311
NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs) rs1555528188
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs) rs1064796104
NM_000018.4(ACADVL):c.62+6T>C rs1555527495
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000019.4(ACAT1):c.203G>T (p.Gly68Val) rs794727475
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875
NM_000020.2(ACVRL1):c.1048+2T>G rs1555153172
NM_000020.2(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1285G>T (p.Val429Leu) rs1131691286
NM_000020.2(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.2(ACVRL1):c.1406_1413dup (p.Trp472fs) rs1057519168
NM_000020.2(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000020.2(ACVRL1):c.302del (p.Leu101fs) rs1064794791
NM_000020.2(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946
NM_000020.2(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile) rs138048445
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys) rs63750800
NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr) rs63750353
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) rs63750418
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.714C>G (p.Ile238Met) rs1555355289
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000022.4(ADA):c.362+5_362+8del rs763595926
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000023.3(SGCA):c.586delG (p.Val196Tyrfs) rs1220674950
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) rs879257322
NM_000026.4(ADSL):c.1123C>T (p.Gln375Ter) rs1555908924
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.1414T>C (p.Tyr472His) rs1057521795
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.775G>T (p.Gly259Trp) rs796052244
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.508-2A>G rs986682657
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) rs121912984
NM_000032.5(ALAS2):c.1093T>C (p.Tyr365His) rs863223902
NM_000032.5(ALAS2):c.1136T>C (p.Met379Thr) rs863223903
NM_000032.5(ALAS2):c.1160G>C (p.Gly387Ala) rs1057522832
NM_000032.5(ALAS2):c.1676G>C (p.Arg559Pro) rs145704441
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.1082-1G>A rs1557054153
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly) rs727503786
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp) rs398123103
NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) rs398123104
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.2037G>A (p.Trp679Ter) rs1557055406
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala) rs1569540711
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.886T>C (p.Tyr296His) rs797044611
NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser) rs797044610
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000036.2(AMPD1):c.1464G>A (p.Trp488Ter) rs1447749222
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.6(APC):c.1045C>T (p.Gln349Ter) rs863225307
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.1240del (p.Arg414fs) rs1554080082
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1312+5G>C rs886039507
NM_000038.6(APC):c.135+1G>T rs750508765
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.1377_1383del (p.Glu460fs) rs1554080716
NM_000038.6(APC):c.1409-6A>G rs886039508
NM_000038.6(APC):c.1433T>G (p.Leu478Ter) rs863225314
NM_000038.6(APC):c.1494del (p.Arg498fs) rs1554081719
NM_000038.6(APC):c.1522_1523del (p.Leu508fs) rs886039509
NM_000038.6(APC):c.1525_1527del (p.Thr509del) rs863225315
NM_000038.6(APC):c.1548+3_1548+4del rs886039510
NM_000038.6(APC):c.1549-1G>A rs863225316
NM_000038.6(APC):c.1594C>T (p.Gln532Ter) rs1554081901
NM_000038.6(APC):c.1609del (p.Ser537fs) rs863225317
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1626_1626+6del rs1554081930
NM_000038.6(APC):c.1643dup (p.Leu548fs) rs1554082091
NM_000038.6(APC):c.1715T>A (p.Leu572Ter) rs886039511
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.1744-2A>T rs587783035
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.1951dup (p.Asp651fs) rs1554083255
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1958+3A>T rs879254032
NM_000038.6(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) rs863225323
NM_000038.6(APC):c.207del (p.Glu70fs) rs863225325
NM_000038.6(APC):c.2183del (p.Asn728fs) rs863225326
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.2343del (p.Lys782fs) rs1554084080
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
NM_000038.6(APC):c.2759del (p.Asn920fs) rs863225331
NM_000038.6(APC):c.2825del (p.Asn942fs) rs1554084511
NM_000038.6(APC):c.2886del (p.Asp962fs) rs863225334
NM_000038.6(APC):c.2926dup (p.Arg976fs) rs1554084587
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
NM_000038.6(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.6(APC):c.3054_3063del (p.Asp1018fs) rs863225336
NM_000038.6(APC):c.3079dup (p.Tyr1027fs) rs863225337
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3135_3136del (p.Gln1045_Asn1046insTer) rs863225339
NM_000038.6(APC):c.3139G>T (p.Glu1047Ter) rs568149455
NM_000038.6(APC):c.3298_3301del (p.Ser1100fs) rs863225341
NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs) rs863225342
NM_000038.6(APC):c.3535dup (p.Tyr1179fs) rs863225343
NM_000038.6(APC):c.3569C>A (p.Ser1190Ter) rs886039618
NM_000038.6(APC):c.3578del (p.Gln1193fs) rs1554085131
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3607G>T (p.Gly1203Ter) rs1057518472
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3791dup (p.Glu1265fs) rs863225346
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3939_3940dup (p.Arg1314fs) rs863225350
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter) rs863225352
NM_000038.6(APC):c.4166del (p.Ser1389fs) rs863225353
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.4260dup (p.Ser1421fs) rs1554085679
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter) rs756912930
NM_000038.6(APC):c.4616C>A (p.Ser1539Ter) rs1554086008
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter) rs863225356
NM_000038.6(APC):c.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) rs863225359
NM_000038.6(APC):c.4741del (p.Ser1581fs) rs886039682
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) rs886039641
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs) rs1554086363
NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer) rs886039642
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.5234dup (p.Ile1746fs) rs1554086550
NM_000038.6(APC):c.524_531+4del rs863225364
NM_000038.6(APC):c.531+2T>A rs863225365
NM_000038.6(APC):c.531+2T>C rs863225365
NM_000038.6(APC):c.5569del (p.Ser1857fs) rs1064795688
NM_000038.6(APC):c.5570C>A (p.Ser1857Ter) rs1561601114
NM_000038.6(APC):c.573T>A (p.Tyr191Ter) rs185154886
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5936del (p.Asn1979fs) rs863225368
NM_000038.6(APC):c.5996del (p.Pro1999fs) rs863225369
NM_000038.6(APC):c.6010dup (p.Ala2004fs) rs879254226
NM_000038.6(APC):c.6055_6058GTTT[1] (p.Cys2020fs) rs876660174
NM_000038.6(APC):c.6093_6095delinsAC (p.Ser2031fs) rs879254155
NM_000038.6(APC):c.6099_6100CT[1] (p.Asp2033_Ser2034insTer) rs886039638
NM_000038.6(APC):c.6150_6151del (p.Lys2052fs) rs1561605508
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) rs1554087515
NM_000038.6(APC):c.6610C>T (p.Arg2204Ter) rs752654519
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000038.6(APC):c.7139_7142AACA[1] (p.Thr2382fs) rs886039687
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs) rs1469278346
NM_000038.6(APC):c.7391_7392CT[1] (p.Leu2465fs) rs1554088313
NM_000038.6(APC):c.7475_7476CT[1] (p.Leu2493fs) rs1554088391
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.7891del (p.Ser2631fs) rs1554088726
NM_000038.6(APC):c.7931_7937del (p.Ile2644fs) rs886039639
NM_000038.6(APC):c.800del (p.Gly267fs) rs863225372
NM_000038.6(APC):c.800dup (p.Glu268fs) rs863225372
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000039.2(APOA1):c.85dup (p.Gln29fs) rs753348565
NM_000042.3(APOH):c.112A>G (p.Lys38Glu) rs398124629
NM_000043.6(FAS):c.191del (p.Pro64fs)
NM_000043.6(FAS):c.403dup (p.Cys135fs)
NM_000043.6(FAS):c.661del (p.Ala221fs) rs1085307626
NM_000043.6(FAS):c.664del (p.Ala221_Ile222insTer) rs1554852090
NM_000043.6(FAS):c.785T>A (p.Ile262Asn) rs483352683
NM_000044.6(AR):c.1720G>C (p.Ala574Pro) rs1057521121
NM_000044.6(AR):c.1813G>C (p.Asp605His) rs1266872442
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1888C>T (p.Arg630Trp) rs1085307962
NM_000044.6(AR):c.2137C>A (p.Leu713Ile) rs137852595
NM_000044.6(AR):c.2258G>T (p.Arg753Leu) rs1057523747
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591
NM_000044.6(AR):c.2504A>G (p.Tyr835Cys) rs1057521122
NM_000044.6(AR):c.2668G>C (p.Val890Leu) rs886041133
NM_000044.6(AR):c.2723T>A (p.Leu908His) rs1131691681
NM_000044.6(AR):c.2740C>A (p.Pro914Thr) rs1064795250
NM_000045.4(ARG1):c.709G>A (p.Asp237Asn) rs764273304
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.200T>A (p.Ile67Asn) rs1064793026
NM_000046.5(ARSB):c.317G>C (p.Arg106Pro) rs150087888
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000047.2(ARSL):c.1387G>A (p.Ala463Thr) rs1131691809
NM_000047.2(ARSL):c.331C>T (p.Arg111Cys) rs1085307895
NM_000047.2(ARSL):c.332G>A (p.Arg111His) rs122460153
NM_000047.2(ARSL):c.513C>A (p.Tyr171Ter) rs143383382
NM_000047.2(ARSL):c.977T>C (p.Met326Thr) rs1555909466
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg) rs1301059768
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.539T>G (p.Leu180Arg) rs1057141162
NM_000048.4(ASL):c.839G>A (p.Gly280Glu) rs1085307952
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037
NM_000049.3(ASPA):c.368G>A (p.Gly123Glu) rs1057521115
NM_000049.3(ASPA):c.689_698del (p.Asp230fs) rs1555540679
NM_000049.3(ASPA):c.716T>G (p.Ile239Ser) rs145085349
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000050.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724
NM_000050.4(ASS1):c.584T>C (p.Leu195Pro) rs796051936
NM_000051.3(ATM):c.-30-1G>T rs869312754
NM_000051.3(ATM):c.1066-2A>T rs1555069514
NM_000051.3(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.3(ATM):c.1110C>A (p.Tyr370Ter)
NM_000051.3(ATM):c.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.119_122del (p.Ile40fs) rs876659116
NM_000051.3(ATM):c.1235+1del rs886039640
NM_000051.3(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.3(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.3(ATM):c.1285_1288del (p.Asn429fs) rs1555070694
NM_000051.3(ATM):c.1348G>T (p.Glu450Ter) rs1555070786
NM_000051.3(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.3(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer) rs1064795556
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.3(ATM):c.1697_1706del (p.Val566fs) rs1064794468
NM_000051.3(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer) rs1064796083
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610
NM_000051.3(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.3(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.3(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.3(ATM):c.2080_2081del (p.Leu694fs) rs886039591
NM_000051.3(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.3(ATM):c.2124+1G>T rs1555073553
NM_000051.3(ATM):c.2147T>A (p.Val716Asp) rs864622294
NM_000051.3(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.3(ATM):c.2571_2572del (p.Leu857_Phe858insTer) rs1555082257
NM_000051.3(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2662G>T (p.Glu888Ter) rs879254083
NM_000051.3(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.3(ATM):c.2829_2838+16delinsA rs1565420196
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.3146dup (p.Leu1049fs) rs1565427961
NM_000051.3(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.3(ATM):c.3275_3278CAAT[1] (p.Asn1094fs) rs879254281
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.332-1G>A rs747855862
NM_000051.3(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.3(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.3(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.3(ATM):c.3631del (p.Ala1211fs) rs1064795885
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.3(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.3(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.3(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.3(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.3(ATM):c.3926_3927CA[4] (p.Gln1310fs) rs1555093659
NM_000051.3(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3996del (p.Ile1332fs) rs1555095807
NM_000051.3(ATM):c.4082_4083AG[1] (p.Ser1362fs) rs886039488
NM_000051.3(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.3(ATM):c.4109+1G>T rs879254034
NM_000051.3(ATM):c.432dup (p.Leu145fs) rs1555059330
NM_000051.3(ATM):c.4332_4337delinsTAAAA (p.Phe1445fs) rs1064795394
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4405del (p.Ile1469fs) rs886041938
NM_000051.3(ATM):c.4437-1G>A rs759520465
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4776+2_4776+13del rs762838462
NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.5192C>G (p.Ser1731Ter) rs886039627
NM_000051.3(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.3(ATM):c.5496+1G>A rs879254180
NM_000051.3(ATM):c.5497-1G>A rs876660245
NM_000051.3(ATM):c.5516dup (p.Thr1840fs) rs879254242
NM_000051.3(ATM):c.5521_5522del (p.Val1841fs) rs1555107293
NM_000051.3(ATM):c.5534del (p.Tyr1844_Leu1845insTer) rs1555107315
NM_000051.3(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.3(ATM):c.5763-2A>T rs876659489
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.3(ATM):c.5947dup (p.Ser1983fs) rs879254271
NM_000051.3(ATM):c.5980_5986delinsTAAGAAA (p.Lys1994_Glu1996delinsTer) rs1555111868
NM_000051.3(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.3(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6238T>G (p.Tyr2080Asp) rs1064795467
NM_000051.3(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000051.3(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.3(ATM):c.6384del (p.Leu2128fs) rs1555116427
NM_000051.3(ATM):c.6490G>T (p.Glu2164Ter) rs1317619286
NM_000051.3(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.3(ATM):c.6628del (p.Gln2210fs) rs886039616
NM_000051.3(ATM):c.663-2A>G rs886041931
NM_000051.3(ATM):c.6730dup (p.Arg2244fs) rs1060501543
NM_000051.3(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) rs1064794237
NM_000051.3(ATM):c.680del (p.Ser226_Ser227insTer) rs879254070
NM_000051.3(ATM):c.6864_6865CT[1] (p.Val2288_Ser2289insTer) rs886039701
NM_000051.3(ATM):c.6975+2T>C rs879254199
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.3(ATM):c.7253_7266del (p.Lys2418fs) rs1555122216
NM_000051.3(ATM):c.7299_7302del (p.Asn2435fs) rs886039628
NM_000051.3(ATM):c.7328G>A (p.Arg2443Gln) rs587782310
NM_000051.3(ATM):c.7347dup (p.Leu2450fs) rs1555123008
NM_000051.3(ATM):c.7391_7412del (p.Cys2464fs) rs1064794690
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.3(ATM):c.7929del (p.Gly2644fs) rs1064795550
NM_000051.3(ATM):c.7997C>A (p.Thr2666Asn) rs730881384
NM_000051.3(ATM):c.8076dup (p.Ala2693fs) rs1555127151
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8149A>T (p.Lys2717Ter) rs774334667
NM_000051.3(ATM):c.8152-1G>A rs1398616877
NM_000051.3(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.3(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.3(ATM):c.8564del (p.Ser2855fs) rs886039643
NM_000051.3(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.3(ATM):c.8585-13_8598del rs1555139443
NM_000051.3(ATM):c.8585-2A>C rs1060501700
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8851-2A>G rs886039647
NM_000051.3(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer) rs1064795675
NM_000051.3(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000052.7(ATP7A):c.3013G>A (p.Gly1005Arg) rs1569550143
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile) rs1064796648
NM_000052.7(ATP7A):c.3812del (p.Thr1271fs) rs1557238569
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2901del (p.Ile968fs) rs1064796054
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000056.4(BCKDHB):c.290A>T (p.Asp97Val) rs886043103
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.3445del (p.Lys1148_Leu1149insTer) rs1555424298
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000059.3(BRCA2):c.-39-1_-39del rs758732038
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.1211dup (p.Asn404fs) rs1555281775
NM_000059.3(BRCA2):c.17_18del (p.Lys6fs) rs80359298
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.229A>G (p.Thr77Ala) rs80358500
NM_000059.3(BRCA2):c.2860G>T (p.Glu954Ter) rs1555282911
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.316+5G>C rs81002840
NM_000059.3(BRCA2):c.317-2A>G rs1477341630
NM_000059.3(BRCA2):c.3174dup (p.Leu1059fs) rs1555283079
NM_000059.3(BRCA2):c.3376G>T (p.Glu1126Ter) rs1555283206
NM_000059.3(BRCA2):c.3723del (p.Phe1241fs) rs886040491
NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.3(BRCA2):c.4037del (p.Thr1346fs) rs1162394508
NM_000059.3(BRCA2):c.425+2T>C rs876661045
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.3(BRCA2):c.4333_4337del (p.Lys1445fs) rs1566230089
NM_000059.3(BRCA2):c.4376del (p.Asn1459fs) rs1555283752
NM_000059.3(BRCA2):c.4462_4463CA[1] (p.His1488fs) rs397507720
NM_000059.3(BRCA2):c.4544dup (p.Ile1516fs) rs397507725
NM_000059.3(BRCA2):c.4707C>A (p.Tyr1569Ter) rs878853585
NM_000059.3(BRCA2):c.4749del (p.Ile1583fs) rs1555283928
NM_000059.3(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.3(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.3(BRCA2):c.6373_6374delinsG (p.Thr2125fs) rs1555284655
NM_000059.3(BRCA2):c.6474dup (p.Gln2159fs) rs1555284710
NM_000059.3(BRCA2):c.6502G>T (p.Gly2168Ter) rs886040660
NM_000059.3(BRCA2):c.6592G>T (p.Glu2198Ter) rs1555284766
NM_000059.3(BRCA2):c.6884_6888del (p.Arg2295fs) rs1566236904
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7628_7629del (p.Tyr2543fs) rs1566242661
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7876T>C (p.Trp2626Arg) rs1060502459
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7958_7959dup (p.Leu2654fs) rs1566244965
NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.3(BRCA2):c.7977-2A>G rs276174899
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.3(BRCA2):c.8170G>T (p.Gly2724Trp) rs1057521184
NM_000059.3(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.8344_8351delinsCA (p.Ser2782_Arg2784delinsGln) rs1064795286
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8562T>G (p.Tyr2854Ter) rs786201333
NM_000059.3(BRCA2):c.8724del (p.Lys2909fs) rs1555288172
NM_000059.3(BRCA2):c.8754+1G>T rs397508006
NM_000059.3(BRCA2):c.8754+3G>C rs397508007
NM_000059.3(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.3(BRCA2):c.8755-1G>C rs81002812
NM_000059.3(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.3(BRCA2):c.9502-2A>C rs81002868
NM_000059.3(BRCA2):c.9513_9516del (p.Leu3172fs) rs80359769
NM_000059.3(BRCA2):c.9588del (p.Asp3197fs) rs876661285
NM_000059.3(BRCA2):c.9591del (p.Cys3198fs) rs1555289787
NM_000059.3(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000059.3(BRCA2):c.9633dup (p.Gly3212fs) rs1555289805
NM_000059.3(BRCA2):c.9676del (p.Tyr3226fs) rs80359774
NM_000059.3(BRCA2):c.9711del (p.Lys3238fs) rs1555289923
NM_000059.3(BRCA2):c.9789_9790del (p.Asn3264fs) rs886040851
NM_000061.2(BTK):c.-31+5G>T rs1131691354
NM_000061.2(BTK):c.1349+4A>T
NM_000061.2(BTK):c.142-205A>G
NM_000061.2(BTK):c.1688G>T (p.Trp563Leu) rs1555977474
NM_000061.2(BTK):c.1697C>T (p.Pro566Leu) rs1057521814
NM_000061.2(BTK):c.1701A>C (p.Glu567Asp)
NM_000061.2(BTK):c.1757T>C (p.Leu586Ser) rs1064796809
NM_000061.2(BTK):c.1760T>C (p.Met587Thr) rs886039321
NM_000061.2(BTK):c.1771del (p.Tyr591fs) rs1555977341
NM_000061.2(BTK):c.1805C>T (p.Thr602Ile) rs1057521116
NM_000061.2(BTK):c.1888A>C (p.Met630Leu) rs1064794904
NM_000061.2(BTK):c.1978T>G (p.Ter660Gly) rs1085307927
NM_000061.2(BTK):c.370T>C (p.Trp124Arg) rs7474275
NM_000061.2(BTK):c.903_905AGG[1] (p.Gly303del) rs1064794285
NM_000062.2(SERPING1):c.1351_1352GA[1] (p.Glu451fs) rs1554996833
NM_000062.2(SERPING1):c.1458_1465delinsA (p.His486fs) rs1554996859
NM_000062.2(SERPING1):c.51+5G>T rs1554994665
NM_000062.2(SERPING1):c.512C>T (p.Pro171Leu) rs1064793350
NM_000062.2(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.2(SERPING1):c.752T>C (p.Leu251Pro) rs1554995774
NM_000062.2(SERPING1):c.871A>C (p.Asn291His) rs1057520366
NM_000063.6(C2):c.1482_1483delinsC (p.Ala495fs)
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721
NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) rs1558075630
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924
NM_000070.3(CAPN3):c.1745+5G>C rs886042903
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.1914_1914+18del rs1555422851
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2255_2257ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser) rs1085307534
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.2381-1G>A rs786205491
NM_000070.3(CAPN3):c.2440-2A>G rs769688710
NM_000070.3(CAPN3):c.2440-3C>G rs761757153
NM_000070.3(CAPN3):c.310G>T (p.Glu104Ter) rs786205490
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194
NM_000070.3(CAPN3):c.742_743del (p.Met248fs) rs1064793620
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg) rs1085307995
NM_000071.2(CBS):c.1051G>C (p.Gly351Arg) rs774926464
NM_000071.2(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.2(CBS):c.1109G>A (p.Cys370Tyr) rs757920190
NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.572C>A (p.Thr191Lys) rs121964973
NM_000071.2(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000074.2(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.2(CD40LG):c.208_209del (p.Gln70fs)
NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.2(CD40LG):c.431G>A (p.Gly144Glu) rs886039326
NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) rs1057521127
NM_000074.2(CD40LG):c.464T>A (p.Leu155Gln) rs104894769
NM_000074.2(CD40LG):c.478del (p.Gln160fs) rs1057518628
NM_000074.2(CD40LG):c.506A>G (p.Tyr169Cys) rs786205606
NM_000074.2(CD40LG):c.676G>A (p.Gly226Arg)
NM_000074.2(CD40LG):c.686T>C (p.Phe229Ser) rs1569377865
NM_000074.2(CD40LG):c.719_720del (p.Asn240fs) rs786205607
NM_000074.2(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000076.2(CDKN1C):c.606_607del (p.Ala203fs) rs1564929735
NM_000076.2(CDKN1C):c.845C>G (p.Ser282Ter) rs267606716
NM_000077.4(CDKN2A):c.-16_8GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.4(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.4(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.4(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.4(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198
NM_000077.4(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000078.3(CETP):c.953_962del (p.Phe318fs) rs779824367
NM_000080.4(CHRNE):c.1244_1257del (p.Ala415fs) rs1555546224
NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter) rs763943642
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) rs1555546038
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000081.3(LYST):c.1507C>T (p.Arg503Ter) rs1558282769
NM_000081.3(LYST):c.4688+1G>A rs1131691428
NM_000081.3(LYST):c.6694G>T (p.Gly2232Ter) rs748659198
NM_000081.3(LYST):c.7159C>T (p.Arg2387Ter) rs1553283111
NM_000081.3(LYST):c.7780+2C>T rs760108842
NM_000082.3(ERCC8):c.1016G>A (p.Cys339Tyr) rs786205573
NM_000082.3(ERCC8):c.400-1G>A rs1057520280
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.481G>A (p.Val161Ile)
NM_000082.3(ERCC8):c.580T>C (p.Trp194Arg) rs1554073311
NM_000082.3(ERCC8):c.600T>A (p.Tyr200Ter) rs1554073309
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) rs1423567292
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
NM_000083.3(CLCN1):c.1401+1G>T rs769861892
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del) rs1554438053
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454
NM_000083.3(CLCN1):c.1612_1613CA[2] (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1663C>T (p.His555Tyr) rs201850090
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn) rs1554438471
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.434-1_437del rs1563074191
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala) rs1554434857
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000085.4(CLCNKB):c.359G>T (p.Gly120Val) rs1057521154
NM_000086.2(CLN3):c.1004C>A (p.Ser335Tyr) rs765157752
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.141del (p.Leu46_Cys47insTer) rs1064795153
NM_000086.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_000086.2(CLN3):c.750del (p.Gln251fs) rs1064796502
NM_000086.2(CLN3):c.962+3A>T rs796052336
NM_000088.3(COL1A1):c.1002+2T>A rs786205507
NM_000088.3(COL1A1):c.1003-1G>A rs72645361
NM_000088.3(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.3(COL1A1):c.1102G>C (p.Gly368Arg) rs72645367
NM_000088.3(COL1A1):c.1155+3_1155+6del rs72648316
NM_000088.3(COL1A1):c.1238G>A (p.Gly413Asp) rs72648325
NM_000088.3(COL1A1):c.1318G>A (p.Gly440Ser) rs794727319
NM_000088.3(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.3(COL1A1):c.1547del (p.Pro516fs) rs1555573734
NM_000088.3(COL1A1):c.1635_1643del (p.543_545SPG[1]) rs1064796341
NM_000088.3(COL1A1):c.1724G>A (p.Gly575Asp) rs1567759163
NM_000088.3(COL1A1):c.2021G>A (p.Gly674Glu) rs1567757713
NM_000088.3(COL1A1):c.2049_2050del (p.Glu684fs) rs1555573111
NM_000088.3(COL1A1):c.2354G>A (p.Gly785Asp) rs786205506
NM_000088.3(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.3(COL1A1):c.256del (p.Val86fs) rs1567764772
NM_000088.3(COL1A1):c.2588G>C (p.Gly863Ala) rs886043749
NM_000088.3(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.3(COL1A1):c.2668-11T>G rs786205505
NM_000088.3(COL1A1):c.2930G>T (p.Gly977Val) rs886042308
NM_000088.3(COL1A1):c.3099+1G>A rs1555572316
NM_000088.3(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177
NM_000088.3(COL1A1):c.3127G>A (p.Gly1043Arg) rs886044125
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.3(COL1A1):c.3622A>T (p.Lys1208Ter) rs786205504
NM_000088.3(COL1A1):c.4245C>A (p.Cys1415Ter) rs1555571589
NM_000088.3(COL1A1):c.959G>A (p.Gly320Asp) rs72645353
NM_000089.3(COL1A2):c.1065_1066AG[2] (p.Ser357fs) rs1131691888
NM_000089.3(COL1A2):c.1135G>A (p.Gly379Arg) rs786205587
NM_000089.3(COL1A2):c.1694G>C (p.Gly565Ala) rs794727470
NM_000089.3(COL1A2):c.2189G>T (p.Gly730Val) rs1562905224
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2261G>A (p.Gly754Asp) rs1554397621
NM_000089.3(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235
NM_000089.3(COL1A2):c.2584G>A (p.Gly862Ser) rs1554398126
NM_000089.3(COL1A2):c.2656G>A (p.Gly886Ser) rs886043796
NM_000089.3(COL1A2):c.2693G>T (p.Gly898Val) rs794727669
NM_000089.3(COL1A2):c.2738G>T (p.Gly913Val) rs886042129
NM_000089.3(COL1A2):c.2958del (p.Val987fs) rs1064793527
NM_000089.3(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000089.3(COL1A2):c.3793T>C (p.Ser1265Pro) rs886044109
NM_000089.3(COL1A2):c.401del (p.Pro134fs) rs1057518136
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.569G>A (p.Gly190Glu) rs72656369
NM_000089.3(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000089.3(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000090.3(COL3A1):c.1061_1062insTA (p.Pro355fs) rs1553507793
NM_000090.3(COL3A1):c.1151G>T (p.Gly384Val) rs794727181
NM_000090.3(COL3A1):c.1223G>A (p.Gly408Glu) rs794728043
NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1285G>A (p.Gly429Ser) rs1559056179
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1484G>C (p.Gly495Ala) rs1057524653
NM_000090.3(COL3A1):c.1673_1722del (p.Gly558fs) rs1553508231
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1977+5G>A
NM_000090.3(COL3A1):c.1978-1G>C rs1064796733
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.2042G>A (p.Gly681Asp)
NM_000090.3(COL3A1):c.2123G>C (p.Gly708Ala) rs111929073
NM_000090.3(COL3A1):c.2132G>T (p.Gly711Val) rs794728049
NM_000090.3(COL3A1):c.2464G>A (p.Gly822Ser) rs794728051
NM_000090.3(COL3A1):c.2536G>A (p.Gly846Arg)
NM_000090.3(COL3A1):c.2582G>A (p.Gly861Asp) rs1064796468
NM_000090.3(COL3A1):c.2608-2A>C rs1057523593
NM_000090.3(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.282+1G>C rs1131692024
NM_000090.3(COL3A1):c.2996G>T (p.Gly999Val) rs1085307964
NM_000090.3(COL3A1):c.3049G>A (p.Gly1017Arg) rs1553509397
NM_000090.3(COL3A1):c.3077G>T (p.Gly1026Val) rs1553509404
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG rs1553509575
NM_000090.3(COL3A1):c.3329G>A (p.Gly1110Glu) rs794728055
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.4175T>G (p.Leu1392Arg) rs1553509934
NM_000090.3(COL3A1):c.528+5G>C rs794728038
NM_000090.3(COL3A1):c.565G>A (p.Gly189Ser) rs587779507
NM_000090.3(COL3A1):c.584G>T (p.Gly195Val) rs1553507249
NM_000090.3(COL3A1):c.622C>T (p.Gln208Ter) rs746358771
NM_000090.3(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000091.4(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.4(COL4A3):c.1087G>A (p.Gly363Arg) rs1559875465
NM_000091.4(COL4A3):c.1096G>A (p.Gly366Arg)
NM_000091.4(COL4A3):c.1141G>C (p.Gly381Arg) rs1559876538
NM_000091.4(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.190G>C (p.Gly64Arg)
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-1G>A rs1364800683
NM_000091.4(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000091.4(COL4A3):c.2012G>A (p.Gly671Asp) rs1085307955
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.4(COL4A3):c.2647G>A (p.Gly883Arg) rs1559897288
NM_000091.4(COL4A3):c.2810G>A (p.Gly937Glu) rs1559899600
NM_000091.4(COL4A3):c.2962G>A (p.Gly988Arg)
NM_000091.4(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.4(COL4A3):c.3070+2T>C rs1173685095
NM_000091.4(COL4A3):c.3142G>C (p.Gly1048Arg) rs1559906448
NM_000091.4(COL4A3):c.3212G>A (p.Gly1071Glu)
NM_000091.4(COL4A3):c.3275G>T (p.Gly1092Val) rs1559909513
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.3592G>A (p.Gly1198Ser)
NM_000091.4(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069
NM_000091.4(COL4A3):c.3820G>A (p.Gly1274Ser) rs1559914789
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.3882+5G>A rs1553764454
NM_000091.4(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000091.4(COL4A3):c.4010G>A (p.Gly1337Glu)
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.547-1G>T rs1240347743
NM_000091.4(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.4(COL4A3):c.88G>C (p.Gly30Arg) rs1559854632
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg)
NM_000091.4(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000091.4(COL4A3):c.997G>A (p.Gly333Arg)
NM_000092.4(COL4A4):c.1033delG rs1553681700
NM_000092.4(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.4(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.4(COL4A4):c.1223G>A (p.Gly408Glu)
NM_000092.4(COL4A4):c.1423G>T (p.Gly475Cys) rs1371408968
NM_000092.4(COL4A4):c.1697-1G>A rs1559569975
NM_000092.4(COL4A4):c.1988-2A>T
NM_000092.4(COL4A4):c.2039G>A (p.Gly680Asp) rs1553646081
NM_000092.4(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192
NM_000092.4(COL4A4):c.2100_2102delinsGTGT (p.Ser700fs) rs1553644383
NM_000092.4(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.4(COL4A4):c.2528G>A (p.Gly843Glu) rs1559515185
NM_000092.4(COL4A4):c.2545+2T>G rs1559515075
NM_000092.4(COL4A4):c.280_281AG[1] (p.Asp96fs) rs1559677146
NM_000092.4(COL4A4):c.2870G>T (p.Gly957Val) rs1559503562
NM_000092.4(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299
NM_000092.4(COL4A4):c.3577+3A>T rs786205548
NM_000092.4(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4122del (p.Cys1375fs) rs1162601696
NM_000092.4(COL4A4):c.4175G>C (p.Gly1392Ala) rs1559429663
NM_000092.4(COL4A4):c.4216+1delG rs1064796549
NM_000092.4(COL4A4):c.4288G>A (p.Gly1430Arg)
NM_000092.4(COL4A4):c.4311_4315dup (p.Gly1439fs) rs1559406956
NM_000092.4(COL4A4):c.4429G>T (p.Glu1477Ter) rs1367906290
NM_000092.4(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.4(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.4(COL4A4):c.489+1G>A
NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711
NM_000092.4(COL4A4):c.675dup (p.Gly226fs) rs1553688335
NM_000092.4(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000093.4(COL5A1):c.1720-11T>A rs863223444
NM_000093.4(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.4(COL5A1):c.273C>A (p.Tyr91Ter) rs1341789008
NM_000093.4(COL5A1):c.2765G>T (p.Gly922Val) rs1564463870
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_000093.4(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.4(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.4(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117
NM_000093.4(COL5A1):c.3350G>C (p.Gly1117Ala) rs863223448
NM_000093.4(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.4230G>C (p.Lys1410Asn) rs863223453
NM_000093.4(COL5A1):c.4402G>A (p.Gly1468Arg) rs1554806670
NM_000093.4(COL5A1):c.4456G>A (p.Gly1486Ser) rs1554806972
NM_000093.4(COL5A1):c.4471A>T (p.Ile1491Phe) rs863223457
NM_000093.4(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_000093.4(COL5A1):c.4840_4841TC[2] (p.Leu1615fs) rs1554808136
NM_000093.4(COL5A1):c.5370+3_5370+8delinsC rs1064794972
NM_000093.4(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_000093.4(COL5A1):c.5486T>G (p.Phe1829Cys) rs863223483
NM_000094.3(COL7A1):c.3551-3T>G rs773263825
NM_000094.3(COL7A1):c.3831+1G>T
NM_000094.3(COL7A1):c.4047+2T>C
NM_000094.3(COL7A1):c.4600G>A (p.Gly1534Arg) rs1553860378
NM_000094.3(COL7A1):c.4864G>C (p.Gly1622Arg) rs786205561
NM_000094.3(COL7A1):c.5737-1G>A
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838
NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855
NM_000094.3(COL7A1):c.6855_6881del (p.Val2286_Pro2294del) rs1553853012
NM_000094.3(COL7A1):c.7104+1G>A
NM_000094.3(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843
NM_000094.3(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del) rs1064794294
NM_000095.3(COMP):c.1112G>A (p.Cys371Tyr) rs1057521130
NM_000095.3(COMP):c.1195G>A (p.Asp399Asn) rs1555791490
NM_000095.3(COMP):c.1222G>A (p.Asp408Asn) rs886042932
NM_000095.3(COMP):c.1279_1291del (p.Gly427fs) rs878853098
NM_000095.3(COMP):c.1322A>G (p.His441Arg) rs1131691682
NM_000095.3(COMP):c.1405_1407GAC[4] (p.Asp473del) rs193922900
NM_000095.3(COMP):c.1502G>A (p.Gly501Asp) rs1555791425
NM_000095.3(COMP):c.1533C>G (p.Asp511Glu) rs1064794293
NM_000095.3(COMP):c.1569C>A (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1675G>A (p.Glu559Lys) rs1568554484
NM_000095.3(COMP):c.1760A>G (p.His587Arg) rs312262901
NM_000095.3(COMP):c.762+1G>A rs755374221
NM_000095.3(COMP):c.811G>C (p.Asp271His) rs1131691835
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158
NM_000096.4(CP):c.48del (p.Ala17fs) rs1553765380
NM_000096.4(CP):c.607+1del rs753254095
NM_000096.4(CP):c.928C>G (p.Arg310Gly) rs767161351
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868
NM_000097.7(CPOX):c.700+2T>G
NM_000097.7(CPOX):c.939dup (p.Lys314fs) rs1553696121
NM_000097.7(CPOX):c.995G>A (p.Arg332Gln) rs781627991
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177
NM_000100.3(CSTB):c.13del (p.Ala5fs) rs1555888493
NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) rs1044894207
NM_000101.4(CYBA):c.288-3_300del rs1567608830
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val)
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534
NM_000103.4(CYP19A1):c.380T>C (p.Met127Thr) rs1057518574
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.182C>T (p.Ala61Val) rs796051947
NM_000108.5(DLD):c.185A>G (p.Gln62Arg) rs796051948
NM_000110.3(DPYD):c.1243G>T (p.Glu415Ter) rs755031341
NM_000110.3(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968
NM_000110.3(DPYD):c.2135del (p.Pro712fs) rs1064796552
NM_000110.3(DPYD):c.2767-1G>A rs377221676
NM_000112.3(SLC26A2):c.1831del (p.Val611fs) rs1057518327
NM_000112.3(SLC26A2):c.2122_2123CT[3] (p.Phe709fs) rs1554095433
NM_000115.5(EDNRB):c.211_223del (p.Val71fs) rs1555292048
NM_000115.5(EDNRB):c.802-1G>A rs1555290401
NM_000115.5(EDNRB):c.878dup (p.Tyr293Ter) rs1064797177
NM_000115.5(EDNRB):c.879dup (p.Thr294fs) rs1555290386
NM_000116.5(TAZ):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAZ):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAZ):c.778-2A>G rs876661112
NM_000117.2(EMD):c.284_298del (p.Tyr95_Tyr99del) rs398123156
NM_000117.2(EMD):c.46_82+6del rs1557182198
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.2(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.2(EMD):c.703_704insA (p.Phe235fs) rs1557182708
NM_000117.2(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000118.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_000118.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_000118.3(ENG):c.583del (p.Glu195fs) rs1554810413
NM_000118.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_000118.3(ENG):c.896_991+90del rs1554810125
NM_000121.4(EPOR):c.244C>T (p.Gln82Ter) rs370865377
NM_000121.4(EPOR):c.465_481dup (p.His161fs) rs1555716523
NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000123.3(ERCC5):c.2678+1G>A rs886044319
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1646T>C (p.Leu549Pro) rs1064795562
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr) rs1554875536
NM_000124.4(ERCC6):c.4415del (p.Asn1472fs) rs1131691890
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000127.2(EXT1):c.1015_1017del (p.Gly339del) rs1057518031
NM_000127.2(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.2(EXT1):c.1164+1del rs1057518623
NM_000127.2(EXT1):c.1537-2A>C rs1554578710
NM_000127.2(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.2(EXT1):c.579dup (p.Asn194Ter) rs1554601519
NM_000127.2(EXT1):c.802G>C (p.Gly268Arg) rs1554601492
NM_000127.2(EXT1):c.803G>A (p.Gly268Glu) rs886039352
NM_000128.3(F11):c.1199C>T (p.Pro400Leu) rs533335580
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.3G>T (p.Met1Ile) rs755700350
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.486-2A>G rs1057516695
NM_000130.4(F5):c.5403dup (p.Ser1802fs) rs757917115
NM_000131.4(F7):c.1151C>T (p.Thr384Met) rs531225271
NM_000131.4(F7):c.64+5G>A rs769455161
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.1952A>C (p.His651Pro) rs1569559758
NM_000132.3(F8):c.2161A>C (p.Met721Leu) rs1305924233
NM_000132.3(F8):c.222G>A (p.Thr74=) rs1232517683
NM_000132.3(F8):c.5417C>T (p.Ser1806Phe) rs1569559523
NM_000132.3(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.3(F8):c.6278A>T (p.Asp2093Val) rs137852457
NM_000132.3(F8):c.6320G>A (p.Gly2107Asp) rs1190705187
NM_000132.3(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.3(F8):c.877C>G (p.His293Asp) rs1569559881
NM_000133.3(F9):c.1256T>G (p.Val419Gly) rs137852280
NM_000133.3(F9):c.1289G>A (p.Ser430Asn) rs1569333062
NM_000133.3(F9):c.161A>T (p.Glu54Val) rs1569481966
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1567-1G>T rs1464032361
NM_000135.4(FANCA):c.1776+1G>A rs756140957
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000135.4(FANCA):c.744dup (p.Lys249fs) rs1567645786
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.175dup (p.Thr59fs) rs1554857855
NM_000136.3(FANCC):c.368C>G (p.Ser123Ter) rs1554842855
NM_000136.3(FANCC):c.388G>T (p.Glu130Ter) rs876661231
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.595del (p.Leu199fs) rs1057519366
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000137.3(FAH):c.1027G>T (p.Gly343Trp)
NM_000137.3(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000138.4(FBN1):c.1091G>C (p.Arg364Pro) rs536588176
NM_000138.4(FBN1):c.1148-1G>A rs1555400431
NM_000138.4(FBN1):c.1379G>A (p.Cys460Tyr)
NM_000138.4(FBN1):c.1420T>C (p.Cys474Arg) rs1555400380
NM_000138.4(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.4(FBN1):c.1522C>T (p.Gln508Ter) rs1057521859
NM_000138.4(FBN1):c.1538G>A (p.Cys513Tyr)
NM_000138.4(FBN1):c.1552G>A (p.Gly518Arg) rs794728168
NM_000138.4(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.4(FBN1):c.1606C>T (p.Gln536Ter) rs1479709398
NM_000138.4(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.4(FBN1):c.1721A>G (p.Asp574Gly) rs1566914907
NM_000138.4(FBN1):c.1774G>T (p.Gly592Cys) rs1057521211
NM_000138.4(FBN1):c.1783A>T (p.Lys595Ter) rs1555399958
NM_000138.4(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.4(FBN1):c.1846G>T (p.Glu616Ter) rs397515764
NM_000138.4(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.4(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.4(FBN1):c.2113+2T>G rs730880105
NM_000138.4(FBN1):c.2114-2A>G
NM_000138.4(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.4(FBN1):c.2153C>T (p.Thr718Met) rs777526851
NM_000138.4(FBN1):c.2227C>T (p.Arg743Cys) rs794728188
NM_000138.4(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.4(FBN1):c.2293+5G>A rs794728327
NM_000138.4(FBN1):c.2344A>T (p.Arg782Ter)
NM_000138.4(FBN1):c.2534G>C (p.Cys845Ser)
NM_000138.4(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.4(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.4(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.4(FBN1):c.2677+5G>C rs1085307946
NM_000138.4(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.4(FBN1):c.2737G>A (p.Glu913Lys) rs1555398996
NM_000138.4(FBN1):c.287G>C (p.Arg96Thr) rs794728291
NM_000138.4(FBN1):c.2920dup (p.Arg974fs) rs1555398825
NM_000138.4(FBN1):c.2934dup (p.Ala979fs) rs1555398821
NM_000138.4(FBN1):c.2945G>C (p.Cys982Ser) rs1057524458
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753
NM_000138.4(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.4(FBN1):c.305G>T (p.Cys102Phe) rs794728292
NM_000138.4(FBN1):c.306C>A (p.Cys102Ter) rs25388
NM_000138.4(FBN1):c.3082G>A (p.Asp1028Asn) rs1555398769
NM_000138.4(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.4(FBN1):c.3094T>C (p.Cys1032Arg) rs1555398684
NM_000138.4(FBN1):c.3131G>T (p.Cys1044Phe) rs730880100
NM_000138.4(FBN1):c.3145G>T (p.Gly1049Cys) rs778181932
NM_000138.4(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498
NM_000138.4(FBN1):c.3283T>A (p.Cys1095Ser) rs1064793113
NM_000138.4(FBN1):c.3289T>C (p.Cys1097Arg) rs1131691578
NM_000138.4(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064
NM_000138.4(FBN1):c.3380G>T (p.Gly1127Val) rs1064794882
NM_000138.4(FBN1):c.3401dup (p.Ser1135fs) rs794728342
NM_000138.4(FBN1):c.3450_3458delinsGTCCGCGTT (p.Ile1150_Cys1153delinsMetSerAlaPhe) rs1064796522
NM_000138.4(FBN1):c.3475T>A (p.Cys1159Ser) rs794728205
NM_000138.4(FBN1):c.3496T>C (p.Cys1166Arg) rs1064794796
NM_000138.4(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.4(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.4(FBN1):c.3635G>C (p.Cys1212Ser) rs1057522908
NM_000138.4(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.4(FBN1):c.3668G>T (p.Cys1223Phe) rs137854469
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.3761G>A (p.Cys1254Tyr) rs1131691805
NM_000138.4(FBN1):c.3789C>G (p.Cys1263Trp) rs1057518444
NM_000138.4(FBN1):c.3794G>C (p.Cys1265Ser) rs1555398279
NM_000138.4(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.4(FBN1):c.3839-5_3842del rs1555398178
NM_000138.4(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.4(FBN1):c.386del (p.Cys129fs) rs1555405046
NM_000138.4(FBN1):c.387C>G (p.Cys129Trp) rs1566935514
NM_000138.4(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.4(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.4(FBN1):c.4094A>G (p.Asp1365Gly) rs794728217
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4138T>C (p.Cys1380Arg) rs1131691588
NM_000138.4(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.4(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.4(FBN1):c.4211-1G>A rs1057523796
NM_000138.4(FBN1):c.4252G>T (p.Gly1418Cys) rs1064793114
NM_000138.4(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.4(FBN1):c.4265A>G (p.Asn1422Ser) rs1057517910
NM_000138.4(FBN1):c.4280A>G (p.Tyr1427Cys) rs1555397548
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221
NM_000138.4(FBN1):c.4382G>C (p.Cys1461Ser) rs1057522902
NM_000138.4(FBN1):c.4382G>T (p.Cys1461Phe) rs1057522902
NM_000138.4(FBN1):c.442+1G>A rs868403743
NM_000138.4(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4489T>C (p.Cys1497Arg) rs1555397213
NM_000138.4(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.4(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.4(FBN1):c.4575del (p.Cys1526fs) rs1555397198
NM_000138.4(FBN1):c.461G>C (p.Cys154Ser) rs1057521103
NM_000138.4(FBN1):c.4688G>C (p.Cys1563Ser) rs1131691871
NM_000138.4(FBN1):c.4831C>T (p.Gln1611Ter) rs1555397004
NM_000138.4(FBN1):c.4925A>G (p.Asp1642Gly)
NM_000138.4(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.4(FBN1):c.4936T>G (p.Cys1646Gly) rs1064793115
NM_000138.4(FBN1):c.5009A>G (p.Tyr1670Cys) rs1566903532
NM_000138.4(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.4(FBN1):c.5016T>G (p.Cys1672Trp) rs1555396848
NM_000138.4(FBN1):c.5073_5075AAG[1] (p.Arg1692del) rs1555396789
NM_000138.4(FBN1):c.5177G>A (p.Gly1726Asp) rs1064797059
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.4(FBN1):c.5285G>T (p.Gly1762Val) rs1057524697
NM_000138.4(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.4(FBN1):c.5422+1G>A rs1064793116
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336
NM_000138.4(FBN1):c.5470T>C (p.Cys1824Arg) rs1131691478
NM_000138.4(FBN1):c.5541C>A (p.Cys1847Ter)
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.5680G>A (p.Glu1894Lys) rs1057521101
NM_000138.4(FBN1):c.5767T>C (p.Ser1923Pro) rs794728239
NM_000138.4(FBN1):c.5825G>T (p.Cys1942Phe) rs794728241
NM_000138.4(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.4(FBN1):c.5917G>A (p.Asp1973Asn)
NM_000138.4(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.4(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.4(FBN1):c.6037+1G>A rs1064796636
NM_000138.4(FBN1):c.6037+2_6037+24del rs1555395636
NM_000138.4(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.4(FBN1):c.60C>A (p.Tyr20Ter) rs1057524735
NM_000138.4(FBN1):c.6112T>G (p.Cys2038Gly) rs1064796731
NM_000138.4(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804
NM_000138.4(FBN1):c.6117_6118GT[1] (p.Cys2040fs) rs1057517851
NM_000138.4(FBN1):c.6185A>G (p.Tyr2062Cys) rs1555395266
NM_000138.4(FBN1):c.6206del (p.Lys2069fs) rs1057518034
NM_000138.4(FBN1):c.6277G>A (p.Gly2093Arg) rs1064793117
NM_000138.4(FBN1):c.629G>A (p.Cys210Tyr) rs1085307468
NM_000138.4(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.4(FBN1):c.6354C>T (p.Ile2118=) rs112989722
NM_000138.4(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150
NM_000138.4(FBN1):c.6418G>A (p.Gly2140Arg) rs794728249
NM_000138.4(FBN1):c.6419G>A (p.Gly2140Glu) rs1064793118
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.6496G>T (p.Asp2166Tyr) rs794728252
NM_000138.4(FBN1):c.6499A>C (p.Thr2167Pro) rs373510719
NM_000138.4(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.4(FBN1):c.6508T>C (p.Cys2170Arg)
NM_000138.4(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.4(FBN1):c.6596del (p.Gly2199fs) rs1555395004
NM_000138.4(FBN1):c.6617A>G (p.Asp2206Gly)
NM_000138.4(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.4(FBN1):c.6634del (p.Gln2212fs)
NM_000138.4(FBN1):c.6650G>A (p.Cys2217Tyr) rs794728254
NM_000138.4(FBN1):c.6656T>G (p.Phe2219Cys) rs397515837
NM_000138.4(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.4(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.4(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926
NM_000138.4(FBN1):c.6751T>G (p.Cys2251Gly)
NM_000138.4(FBN1):c.6793T>G (p.Cys2265Gly) rs1057522272
NM_000138.4(FBN1):c.6794G>A (p.Cys2265Tyr) rs1057520679
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6917G>A (p.Arg2306His) rs770443276
NM_000138.4(FBN1):c.6982C>T (p.Gln2328Ter) rs371097218
NM_000138.4(FBN1):c.700_702delinsTGT (p.Gly234Cys) rs794728293
NM_000138.4(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.4(FBN1):c.7132T>C (p.Cys2378Arg) rs794728267
NM_000138.4(FBN1):c.7204G>C (p.Asp2402His) rs1057524757
NM_000138.4(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.4(FBN1):c.7217G>T (p.Cys2406Phe) rs1131691479
NM_000138.4(FBN1):c.722C>T (p.Thr241Met) rs747049980
NM_000138.4(FBN1):c.7246G>A (p.Gly2416Arg) rs794728269
NM_000138.4(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.4(FBN1):c.7330+3_7330+6del
NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464
NM_000138.4(FBN1):c.736+1G>A rs1064796866
NM_000138.4(FBN1):c.7364G>A (p.Cys2455Tyr) rs1555394409
NM_000138.4(FBN1):c.737-2A>G rs1131691772
NM_000138.4(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.4(FBN1):c.7432_7435del (p.Glu2478fs) rs1057518012
NM_000138.4(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.4(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.4(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.4(FBN1):c.7600C>A (p.Leu2534Met) rs794728274
NM_000138.4(FBN1):c.7604G>A (p.Cys2535Tyr)
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.4(FBN1):c.7770C>G (p.Cys2590Trp) rs1064796667
NM_000138.4(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.4(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.4(FBN1):c.7819G>A (p.Asp2607Asn)
NM_000138.4(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.4(FBN1):c.7862C>G (p.Ser2621Cys) rs1085307887
NM_000138.4(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.4(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.4(FBN1):c.7931_7934dup (p.Cys2646fs) rs1555393865
NM_000138.4(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.4(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.4(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.4(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000138.4(FBN1):c.8021G>C (p.Cys2674Ser) rs1555393827
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.4(FBN1):c.8170C>T (p.Pro2724Ser) rs1085307904
NM_000138.4(FBN1):c.8275G>T (p.Glu2759Ter) rs1057518023
NM_000138.4(FBN1):c.8360dup (p.Thr2788fs) rs1555393548
NM_000138.4(FBN1):c.8422del (p.Gln2808fs) rs1131691692
NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000141.4(FGFR2):c.1142A>G (p.Tyr381Cys) rs1064796452
NM_000141.4(FGFR2):c.1717C>T (p.Arg573Ter) rs1564875577
NM_000141.4(FGFR2):c.1757_1758delinsGA (p.Tyr586Ter) rs1554914180
NM_000141.4(FGFR2):c.1925T>A (p.Ile642Lys) rs1064796413
NM_000142.4(FGFR3):c.1052C>G (p.Ser351Cys) rs1057517964
NM_000142.4(FGFR3):c.2407_*5delinsCCCTG (p.Gly803_Ter807delinsProXaa) rs1064796266
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1048C>T (p.Arg350Trp) rs755436052
NM_000143.3(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu) rs863223987
NM_000143.3(FH):c.1108+1G>T rs1057517734
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1146G>A (p.Met382Ile) rs863224006
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1250T>G (p.Leu417Ter) rs1553340709
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.3(FH):c.1302C>A (p.Cys434Ter) rs2070080
NM_000143.3(FH):c.1391-2del rs1064795320
NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) rs863224010
NM_000143.3(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.3(FH):c.1446A>C (p.Leu482Phe) rs863223979
NM_000143.3(FH):c.1486C>T (p.Gln496Ter) rs1553340506
NM_000143.3(FH):c.1A>G (p.Met1Val) rs776806414
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.3(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.3(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.3(FH):c.527A>G (p.His176Arg) rs1158759883
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.555+1G>A rs1375252870
NM_000143.3(FH):c.555+5G>C rs1553341582
NM_000143.3(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.3(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.3(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000143.3(FH):c.706A>G (p.Thr236Ala) rs1064793126
NM_000143.3(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.3(FH):c.809_810del (p.Ile269_Tyr270insTer) rs1553341163
NM_000143.3(FH):c.817G>A (p.Ala273Thr) rs772190176
NM_000143.3(FH):c.81delinsAT (p.Leu28fs) rs1553342155
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.923C>G (p.Ala308Gly) rs1057524385
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000144.5(FXN):c.165+2_165+3insTT rs1564326640
NM_000144.5(FXN):c.385-1G>C rs1554761915
NM_000144.5(FXN):c.483-2A>G rs1554762735
NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) rs121909659
NM_000146.4(FTL):c.370_373del (p.Pro124fs) rs1555797129
NM_000147.4(FUCA1):c.1034G>A (p.Gly345Glu) rs1057521087
NM_000151.4(G6PC):c.943C>G (p.Pro315Ala) rs143321486
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del) rs1064794524
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.2061del (p.Phe687fs) rs1064796706
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.727G>A (p.Asp243Asn) rs1555599600
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter) rs1555381559
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.173del (p.Ile58fs) rs1064795927
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.195+1G>A rs1009872980
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.832A>C (p.Thr278Pro) rs886042645
NM_000153.4(GALC):c.862T>C (p.Trp288Arg) rs398123177
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1139G>C (p.Ter380Ser) rs749047676
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) rs1564100957
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.291C>G (p.Asn97Lys)
NM_000155.4(GALT):c.299C>G (p.Pro100Arg) rs1057524572
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.568T>C (p.Trp190Arg) rs398123184
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.985T>C (p.Ser329Pro) rs398123188
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro) rs145817990
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) rs753198836
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser) rs1131691930
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_000157.4(GBA):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_000157.4(GBA):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000157.4(GBA):c.701G>A (p.Gly234Glu) rs74462743
NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) rs74500255
NM_000157.4(GBA):c.860G>T (p.Cys287Phe) rs1057524702
NM_000157.4(GBA):c.928A>G (p.Ser310Gly)
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430
NM_000159.4(GCDH):c.956+5G>A rs1131691319
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000161.3(GCH1):c.13_19del (p.Pro5fs) rs1555362905
NM_000161.3(GCH1):c.301G>A (p.Ala101Thr) rs1064796560
NM_000161.3(GCH1):c.395T>C (p.Val132Ala) rs1555360034
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000161.3(GCH1):c.610del (p.Gly203_Val204insTer) rs886039378
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs) rs1554334610
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.127C>A (p.Arg43Ser) rs1486280029
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.128G>C (p.Arg43Pro)
NM_000162.5(GCK):c.1339del (p.Arg447fs) rs1064795242
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.238G>A (p.Gly80Ser) rs1554335761
NM_000162.5(GCK):c.25G>T (p.Glu9Ter) rs1131691483
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.703A>G (p.Met235Val) rs1057521093
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.757G>A (p.Val253Ile) rs748964205
NM_000162.5(GCK):c.757G>T (p.Val253Phe) rs748964205
NM_000162.5(GCK):c.762T>A (p.Asn254Lys) rs1554335141
NM_000162.5(GCK):c.766G>C (p.Glu256Gln) rs769268803
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter) rs1562715296
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) rs193922335
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.908G>T (p.Arg303Leu) rs1312678560
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582
NM_000165.5(GJA1):c.991del (p.His331fs) rs1554201088
NM_000166.6(GJB1):c.113T>G (p.Val38Gly) rs863224612
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg) rs1060501004
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.241C>G (p.Leu81Val) rs876661143
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) rs1555937143
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.392T>G (p.Leu131Arg) rs1555937166
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.439G>A (p.Ala147Thr) rs760123011
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup) rs1555937221
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.542T>A (p.Val181Glu) rs876661252
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.602del (p.Cys201fs) rs1569215424
NM_000166.6(GJB1):c.605T>A (p.Ile202Asn) rs1131691258
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile) rs1064795540
NM_000166.6(GJB1):c.626T>G (p.Val209Gly) rs1064795785
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro) rs864622215
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000166.6(GJB1):c.842dup (p.Ala282fs) rs1569215591
NM_000168.6(GLI3):c.2901del (p.Val968fs) rs1064796278
NM_000168.6(GLI3):c.3771del (p.Leu1258fs) rs1554304508
NM_000168.6(GLI3):c.4037_4046dup (p.Ser1349delinsArgAlaAspTer) rs1562657370
NM_000168.6(GLI3):c.4317C>A (p.Tyr1439Ter) rs1562656975
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.2(GLA):c.1024C>G (p.Arg342Gly) rs104894843
NM_000169.2(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.2(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.2(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.2(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.2(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.2(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) rs1569306036
NM_000169.2(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.2(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla) rs1569304218
NM_000169.2(GLA):c.41T>C (p.Leu14Pro)
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.613_621del (p.Pro205_Tyr207del) rs1569303815
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.620A>C (p.Tyr207Ser)
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.708G>T (p.Trp236Cys) rs869312386
NM_000169.2(GLA):c.823C>T (p.Leu275Phe) rs398123222
NM_000169.2(GLA):c.887T>C (p.Met296Thr)
NM_000169.2(GLA):c.893A>G (p.Asn298Ser) rs1569302985
NM_000169.2(GLA):c.896A>G (p.Asp299Gly) rs1569302982
NM_000169.2(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1579_1581del (p.Ser527del) rs1563849699
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2474G>A (p.Gly825Asp) rs906049409
NM_000170.2(GLDC):c.2607dup (p.Phe870fs) rs1554642300
NM_000170.2(GLDC):c.2919+5G>T rs768091555
NM_000173.7(GP1BA):c.586C>T (p.Gln196Ter) rs371226354
NM_000178.4(GSS):c.3G>A (p.Met1Ile) rs1131691975
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1130_1134AGAGA[1] (p.Arg378_Arg379insTer) rs267608077
NM_000179.2(MSH6):c.1135A>T (p.Arg379Ter) rs1432436629
NM_000179.2(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.2(MSH6):c.1252_1253TC[1] (p.Gln419fs) rs1553412696
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.2(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.2(MSH6):c.1309dup (p.His437fs) rs1558661308
NM_000179.2(MSH6):c.1312dup (p.Met438fs) rs863225399
NM_000179.2(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2095G>T (p.Glu699Ter) rs1553413470
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.260+2T>A rs1553408469
NM_000179.2(MSH6):c.260+3A>G rs1553408474
NM_000179.2(MSH6):c.2687_2690del (p.Lys896fs) rs1553414010
NM_000179.2(MSH6):c.2805_2806del (p.Asp936fs) rs863225403
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.2(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.2(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.2(MSH6):c.3134_3140del (p.Lys1045fs) rs1553414544
NM_000179.2(MSH6):c.3154G>T (p.Glu1052Ter) rs765763906
NM_000179.2(MSH6):c.3173-1G>C rs397515875
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3557-1G>T rs1114167723
NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.2(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3714_3715TA[1] (p.Ile1239fs) rs1064794384
NM_000179.2(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.2(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3797_3798AT[1] (p.Met1267fs) rs267608114
NM_000179.2(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.2(MSH6):c.3878_3881dup (p.Pro1295fs) rs1553333500
NM_000179.2(MSH6):c.3900_3945dup (p.Gly1316Ter) rs1558393814
NM_000179.2(MSH6):c.3909_3913dup (p.Leu1305fs) rs1553333576
NM_000179.2(MSH6):c.3916_3926dup (p.Glu1310fs) rs1558393913
NM_000179.2(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.3999dup (p.Arg1334fs) rs863225418
NM_000179.2(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.2(MSH6):c.443dup (p.Leu148fs) rs1060502875
NM_000179.2(MSH6):c.457+1del rs876661125
NM_000180.3(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.3(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.3(GUCY2D):c.416T>C (p.Leu139Pro) rs786205499
NM_000180.3(GUCY2D):c.527T>C (p.Leu176Pro) rs786205500
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg) rs794726973
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser) rs886044680
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs) rs1553312033
NM_000182.5(HADHA):c.1885G>A (p.Gly629Ser) rs1131691348
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.407C>G (p.Pro136Arg) rs796051972
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774
NM_000183.3(HADHB):c.1258T>G (p.Trp420Gly) rs1131691427
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132
NM_000183.3(HADHB):c.210-1G>T rs200777054
NM_000183.3(HADHB):c.686G>A (p.Arg229Gln) rs375654005
NM_000183.3(HADHB):c.740G>A (p.Arg247His) rs121913133
NM_000184.3(HBG2):c.151_156TCTGCC[3] (p.51_52SA[3]) rs1554922455
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000190.4(HMBS):c.1084del (p.Ter362AsnextTer?)
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln)
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109
NM_000190.4(HMBS):c.655G>A (p.Ala219Thr) rs767103817
NM_000190.4(HMBS):c.719A>G (p.Asp240Gly)
NM_000190.4(HMBS):c.77G>T (p.Arg26Leu)
NM_000190.4(HMBS):c.799G>A (p.Val267Met) rs1057521126
NM_000191.3(HMGCL):c.497+4A>G rs568718845
NM_000192.3(TBX5):c.1158del (p.Ser387fs) rs1064795870
NM_000192.3(TBX5):c.188del (p.Leu63fs) rs1555226584
NM_000192.3(TBX5):c.250T>C (p.Phe84Leu) rs1131691460
NM_000192.3(TBX5):c.376_402del (p.Lys126_Arg134del) rs863223782
NM_000192.3(TBX5):c.676A>G (p.Lys226Glu) rs1131691932
NM_000192.3(TBX5):c.755G>C (p.Ser252Thr) rs863223776
NM_000193.4(SHH):c.1028G>A (p.Gly343Asp) rs1057518056
NM_000193.4(SHH):c.1040C>G (p.Pro347Arg) rs886042458
NM_000193.4(SHH):c.1116G>A (p.Trp372Ter) rs1554493722
NM_000193.4(SHH):c.84G>T (p.Arg28Ser) rs1085307689
NM_000193.4(SHH):c.866C>A (p.Ser289Ter) rs1131691966
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.3(HPRT1):c.566T>C (p.Val189Ala) rs1131691486
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.769-2A>G
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000198.4(HSD3B2):c.1034G>A (p.Trp345Ter)
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) rs1064795109
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000202.8(IDS):c.1027G>A (p.Gly343Arg) rs1557338153
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn) rs138918423
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1393C>A (p.Gln465Lys) rs864622772
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.479C>A (p.Pro160His) rs104894856
NM_000202.8(IDS):c.688A>T (p.Ile230Phe) rs1557339507
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896
NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg) rs794727017
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.554A>C (p.His185Pro) rs1064796754
NM_000204.4(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.4(CFI):c.452A>G (p.Asn151Ser) rs772044176
NM_000206.2(IL2RG):c.184T>A (p.Cys62Ser)
NM_000206.2(IL2RG):c.460C>T (p.Pro154Ser) rs1064793153
NM_000206.2(IL2RG):c.467C>T (p.Ala156Val) rs1057521062
NM_000206.2(IL2RG):c.718T>C (p.Trp240Arg) rs1057517950
NM_000206.2(IL2RG):c.980A>G (p.Glu327Gly) rs1064794631
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000208.4(INSR):c.2275C>T (p.Arg759Trp) rs752552480
NM_000208.4(INSR):c.2929_2932del (p.Leu977fs) rs1555736246
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785
NM_000211.5(ITGB2):c.1415del (p.Cys472fs)
NM_000211.5(ITGB2):c.1768T>C (p.Cys590Arg) rs1064794298
NM_000211.5(ITGB2):c.2146G>C (p.Gly716Arg) rs1064794297
NM_000213.5(ITGB4):c.3977-30_3977-17del rs1064795468
NM_000213.5(ITGB4):c.599C>A (p.Pro200His) rs148770294
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.2045G>A (p.Cys682Tyr) rs876661229
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.886+3A>G rs1555829065
NM_000214.3(JAG1):c.97G>A (p.Gly33Ser) rs876661123
NM_000215.3(JAK3):c.218T>G (p.Leu73Arg) rs1064793156
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.307C>T (p.Arg103Cys) rs761583890
NM_000215.3(JAK3):c.308G>A (p.Arg103His) rs774202259
NM_000215.3(JAK3):c.349C>T (p.Arg117Cys) rs201233697
NM_000215.3(JAK3):c.424C>T (p.Arg142Cys) rs773590163
NM_000215.3(JAK3):c.431A>T (p.Asp144Val) rs1486760100
NM_000215.3(JAK3):c.525_526AG[1] (p.Glu176fs) rs1064795657
NM_000215.3(JAK3):c.862-2A>G rs1057523762
NM_000215.3(JAK3):c.913C>T (p.Gln305Ter) rs786205517
NM_000216.4(ANOS1):c.397dup (p.Asp133fs) rs1569059249
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe) rs1555085761
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) rs1085308020
NM_000218.2(KCNQ1):c.124G>T (p.Glu42Ter) rs1554958047
NM_000218.2(KCNQ1):c.1686delG rs794728562
NM_000218.2(KCNQ1):c.20del (p.Pro7fs) rs1554958030
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.373T>G (p.Tyr125Asp) rs794728578
NM_000218.2(KCNQ1):c.374A>G (p.Tyr125Cys) rs1131691513
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.200G>T (p.Arg67Leu) rs79654911
NM_000219.6(KCNE1):c.217C>T (p.His73Tyr) rs1064793159
NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter) rs1568835906
NM_000222.2(KIT):c.1279C>T (p.Gln427Ter) rs1306680919
NM_000228.3(LAMB3):c.1127G>C (p.Cys376Ser) rs1085307994
NM_000228.3(LAMB3):c.1977-1G>A rs786205451
NM_000232.4(SGCB):c.271C>T (p.Arg91Cys) rs555514820
NM_000232.4(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000233.4(LHCGR):c.1471T>C (p.Trp491Arg) rs1064796476
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.2040G>T (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000244.3(MEN1):c.1028T>C (p.Leu343Pro) rs1114167480
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.1132C>G (p.Pro378Ala) rs794728627
NM_000244.3(MEN1):c.1189del (p.Glu397fs) rs386134247
NM_000244.3(MEN1):c.125G>T (p.Gly42Val) rs1565652689
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1617_1633del (p.Ala540fs) rs794728660
NM_000244.3(MEN1):c.1682_1684AGA[1] (p.Lys562del) rs794728661
NM_000244.3(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_000244.3(MEN1):c.1745T>C (p.Leu582Pro) rs794728634
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_000244.3(MEN1):c.481G>C (p.Gly161Arg) rs1085307471
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.530A>T (p.Asp177Val) rs794728618
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.550G>A (p.Glu184Lys) rs1064793167
NM_000244.3(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_000244.3(MEN1):c.673T>C (p.Trp225Arg) rs1085307971
NM_000244.3(MEN1):c.688G>A (p.Gly230Arg) rs1057521110
NM_000244.3(MEN1):c.699del (p.Met233fs) rs1064795635
NM_000244.3(MEN1):c.703T>C (p.Cys235Arg) rs1555165570
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000244.3(MEN1):c.788_790dup (p.Gln263dup) rs1057517760
NM_000244.3(MEN1):c.798+2T>G rs1057524571
NM_000244.3(MEN1):c.839+5G>A rs1064793398
NM_000244.3(MEN1):c.937T>C (p.Ser313Pro) rs1064793169
NM_000246.3(CIITA):c.2290del (p.Gln764fs) rs1064794659
NM_000246.3(CIITA):c.3317+2dup
NM_000248.3(MITF):c.610C>T (p.Gln204Ter) rs1559745185
NM_000248.3(MITF):c.637G>C (p.Glu213Gln) rs1057522775
NM_000248.3(MITF):c.833A>G (p.Asn278Ser) rs368915509
NM_000248.3(MITF):c.859-2A>G rs1064797294
NM_000249.3(MLH1):c.1029C>G (p.Tyr343Ter) rs1553648220
NM_000249.3(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.3(MLH1):c.1258del (p.Ser420fs) rs863225373
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1520_1521insTA (p.Leu507fs) rs1553653135
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.3(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.3(MLH1):c.1719del (p.Leu574fs) rs863225377
NM_000249.3(MLH1):c.1732-2A>G rs267607852
NM_000249.3(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer) rs863225379
NM_000249.3(MLH1):c.1860dup (p.Met621fs) rs863225380
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1907_1920del (p.Leu636fs) rs1553663750
NM_000249.3(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.1938_1945dup (p.Pro649fs) rs1064794331
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.2032A>T (p.Lys678Ter) rs1553664436
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2059del (p.Arg687fs) rs863225381
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.207+2T>C rs267607722
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103+1G>T rs267607888
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.3(MLH1):c.230G>C (p.Cys77Ser) rs63750437
NM_000249.3(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.3(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.3(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306G>A (p.Glu102=) rs63751665
NM_000249.3(MLH1):c.307-2A>G rs267607732
NM_000249.3(MLH1):c.34dup (p.Asp12fs) rs1553637196
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.381-1G>C rs267607744
NM_000249.3(MLH1):c.404dup (p.Lys136fs) rs1553642079
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.3(MLH1):c.960_964dup (p.Ile322fs) rs1553648047
NM_000250.2(MPO):c.1281del (p.Thr428fs) rs762933005
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000250.2(MPO):c.1621+2T>C rs1555607599
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714
NM_000251.2(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.1090del (p.Glu364fs) rs863225385
NM_000251.2(MSH2):c.1177A>T (p.Lys393Ter) rs863225386
NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1302del (p.Val435fs) rs863225389
NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.2(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1593del (p.Val532fs) rs1558511051
NM_000251.2(MSH2):c.1738_1741del (p.Glu580fs) rs1057524910
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1760-2_1783del rs1064795329
NM_000251.2(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.2(MSH2):c.1989del (p.Met663fs) rs1558518588
NM_000251.2(MSH2):c.2004T>A (p.Thr668=) rs1553368731
NM_000251.2(MSH2):c.2005+2dup rs541623924
NM_000251.2(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.2(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2494G>T (p.Glu832Ter) rs863225396
NM_000251.2(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.2(MSH2):c.2588dup (p.Tyr863Ter) rs1553370435
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.2(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.528_529delTG rs587779164
NM_000251.2(MSH2):c.645+2T>C rs876658996
NM_000251.2(MSH2):c.645+2T>G rs876658996
NM_000251.2(MSH2):c.792+2T>G rs587782408
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.2(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000251.2(MSH2):c.961_1006del (p.Thr321fs) rs1553353114
NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.2(MTM1):c.137-3T>G rs878853069
NM_000253.3(MTTP):c.1868-2A>G
NM_000254.2(MTR):c.1_2del (p.Met1fs) rs1367402633
NM_000254.2(MTR):c.2003del (p.Asn668fs) rs1064796330
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866
NM_000255.4(MMUT):c.372_374dup (p.Asp125_Asn126insGlu) rs796052009
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly) rs941483851
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys) rs1561959114
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) rs1313120333
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) rs1085308002
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn) rs730880632
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly) rs730880532
NM_000256.3(MYBPC3):c.1256G>A (p.Arg419His) rs770030288
NM_000256.3(MYBPC3):c.1291G>A (p.Asp431Asn) rs753321277
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) rs397515900
NM_000256.3(MYBPC3):c.1457+2T>G
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1504del (p.Arg502fs) rs1555122188
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) rs730880712
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs) rs1555122143
NM_000256.3(MYBPC3):c.1624+3G>C rs730880690
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1625-2A>G rs112917345
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter) rs1565627615
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.165C>A (p.Tyr55Ter) rs780012957
NM_000256.3(MYBPC3):c.1669G>A (p.Gly557Ser) rs730880693
NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu) rs730880694
NM_000256.3(MYBPC3):c.1687del (p.Val563fs) rs876661363
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp) rs61897383
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551
NM_000256.3(MYBPC3):c.1809del (p.Ile603fs) rs1064794471
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1897+4A>C rs730880557
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met) rs730880560
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.208G>T (p.Glu70Ter) rs11570045
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953
NM_000256.3(MYBPC3):c.2190del (p.Lys731fs) rs1555121467
NM_000256.3(MYBPC3):c.230G>A (p.Gly77Glu) rs730880580
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2324C>G (p.Pro775Arg) rs730880564
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.235T>A (p.Tyr79Asn) rs730880581
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2414-2_2414-1delinsTCCA rs1555121260
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer)
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568
NM_000256.3(MYBPC3):c.25G>C (p.Val9Leu) rs1064793201
NM_000256.3(MYBPC3):c.2602+2T>G rs1555121145
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2635G>T (p.Glu879Ter) rs1565624607
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.270C>G (p.Phe90Leu) rs367990952
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs) rs730880660
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs) rs1057517766
NM_000256.3(MYBPC3):c.2792dup (p.Lys932fs) rs730880716
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2869dup (p.Thr957fs) rs876661365
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906-1G>C rs1409755826
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro) rs730880582
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=) rs1555120639
NM_000256.3(MYBPC3):c.3019T>C (p.Trp1007Arg) rs730880585
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs) rs1555123633
NM_000256.3(MYBPC3):c.3150del (p.Asn1051fs)
NM_000256.3(MYBPC3):c.3157G>T (p.Glu1053Ter)
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3305T>A (p.Val1102Glu) rs730880590
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3491-3C>A rs730880592
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3541C>G (p.Pro1181Ala) rs730880593
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val) rs730880594
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3588C>A (p.Tyr1196Ter)
NM_000256.3(MYBPC3):c.3611T>C (p.Val1204Ala) rs786205470
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000256.3(MYBPC3):c.3665_3666GA[1] (p.Glu1223fs)
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3716A>G (p.Glu1239Gly) rs1085308024
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs) rs1064796231
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3740A>G (p.Asp1247Gly) rs1085307978
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3763del (p.Ala1255fs)
NM_000256.3(MYBPC3):c.3764_3766CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3781G>T (p.Glu1261Ter) rs730880141
NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs) rs1085307897
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.3814+1G>A rs1057521823
NM_000256.3(MYBPC3):c.3814G>A (p.Val1272Met) rs730880609
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg) rs730880622
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) rs771929829
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.851+1G>A rs876661368
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1130G>A (p.Gly377Asp) rs1085307959
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) rs727503269
NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu) rs1060501452
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.4(MYH7):c.1316T>G (p.Met439Arg) rs730880927
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln) rs4981473
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.4(MYH7):c.1571T>C (p.Ile524Thr) rs730880929
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys) rs397516122
NM_000257.4(MYH7):c.1801C>G (p.Leu601Val) rs1131691685
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239
NM_000257.4(MYH7):c.1979C>A (p.Thr660Asn)
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2018T>G (p.Ile673Ser) rs730880884
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro) rs730880731
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2160G>C (p.Gln720His) rs730880733
NM_000257.4(MYH7):c.2163G>T (p.Arg721Ser) rs730880734
NM_000257.4(MYH7):c.2191C>A (p.Pro731Thr) rs727504299
NM_000257.4(MYH7):c.2198G>T (p.Gly733Val) rs727504241
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2212A>T (p.Ser738Cys) rs1064796729
NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr) rs730880894
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu) rs1057520814
NM_000257.4(MYH7):c.2229G>C (p.Glu743Asp) rs397516139
NM_000257.4(MYH7):c.2282C>A (p.Thr761Asn) rs1555337846
NM_000257.4(MYH7):c.2346C>A (p.Ser782Arg) rs730880736
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.4(MYH7):c.2378G>A (p.Arg793Gln) rs730880896
NM_000257.4(MYH7):c.2443C>T (p.Gln815Ter) rs1064797184
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp) rs1064793206
NM_000257.4(MYH7):c.2464A>C (p.Met822Leu) rs730880742
NM_000257.4(MYH7):c.2464A>T (p.Met822Leu) rs730880742
NM_000257.4(MYH7):c.2470G>A (p.Val824Ile)
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln) rs730880743
NM_000257.4(MYH7):c.2478T>A (p.Asn826Lys) rs730880898
NM_000257.4(MYH7):c.2495T>C (p.Leu832Pro) rs730880745
NM_000257.4(MYH7):c.2518C>A (p.Leu840Met) rs730880747
NM_000257.4(MYH7):c.2519T>C (p.Leu840Pro) rs1131691577
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) rs397516156
NM_000257.4(MYH7):c.2555T>A (p.Met852Lys) rs397516157
NM_000257.4(MYH7):c.2560_2562GAG[1] (p.Glu855del) rs730880887
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2666_2667delinsAA (p.Leu889Gln) rs730880888
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.2696C>A (p.Ala899Glu) rs730880753
NM_000257.4(MYH7):c.2698G>A (p.Asp900Asn) rs730880754
NM_000257.4(MYH7):c.2734A>C (p.Lys912Gln) rs730880758
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys) rs730880161
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) rs1131691514
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761
NM_000257.4(MYH7):c.2822G>C (p.Arg941Pro) rs765458590
NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys) rs863225100
NM_000257.4(MYH7):c.2959G>A (p.Glu987Lys) rs730880902
NM_000257.4(MYH7):c.2974C>A (p.Leu992Met) rs149840927
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) rs730880826
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys) rs730880764
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn) rs730880765
NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn) rs730880766
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3160A>G (p.Lys1054Glu) rs730880768
NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met) rs730880769
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388
NM_000257.4(MYH7):c.3341G>A (p.Arg1114His) rs730880773
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.346-1G>A rs1057519221
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.3597C>G (p.Ser1199Arg) rs730880779
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3627C>G (p.Asn1209Lys) rs730880782
NM_000257.4(MYH7):c.3705_3716del (p.Met1235_Ile1238del) rs730880890
NM_000257.4(MYH7):c.3812_3823del (p.Asn1271_Thr1274del) rs1555337023
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785
NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del) rs730880934
NM_000257.4(MYH7):c.3991C>G (p.His1331Asp) rs1057517881
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4070T>C (p.Leu1357Pro) rs730880788
NM_000257.4(MYH7):c.4093A>G (p.Asn1365Asp) rs730880907
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys) rs730880791
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.4238C>T (p.Ser1413Leu) rs730880796
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.442A>C (p.Ser148Arg) rs730880836
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.4643A>C (p.Glu1548Ala) rs730880804
NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro) rs730880808
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) rs730880810
NM_000257.4(MYH7):c.485A>G (p.Tyr162Cys) rs1057517771
NM_000257.4(MYH7):c.494T>A (p.Met165Lys) rs730880920
NM_000257.4(MYH7):c.505A>G (p.Arg169Gly) rs727504267
NM_000257.4(MYH7):c.511A>C (p.Asn171His) rs730880842
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys) rs730880916
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507
NM_000257.4(MYH7):c.5359G>C (p.Glu1787Gln) rs1085308025
NM_000257.4(MYH7):c.5364_5366del (p.Gln1788_Thr1789delinsHis) rs876661179
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5398G>C (p.Ala1800Pro) rs730880917
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) rs730880843
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5659del (p.Glu1887fs) rs730880892
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.617A>G (p.Lys206Arg) rs730880846
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000257.4(MYH7):c.649G>C (p.Glu217Gln) rs730880847
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu) rs3218713
NM_000257.4(MYH7):c.748A>T (p.Ile250Phe) rs397516268
NM_000257.4(MYH7):c.758G>T (p.Gly253Val) rs730880853
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.871T>C (p.Ser291Pro) rs730880857
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.964T>A (p.Ser322Thr) rs730880859
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.184G>A (p.Asp62Asn) rs730880954
NM_000258.2(MYL3):c.193C>T (p.Pro65Ser) rs730880960
NM_000258.2(MYL3):c.194C>G (p.Pro65Arg) rs730880955
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000258.2(MYL3):c.447G>T (p.Met149Ile) rs730880162
NM_000258.2(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000258.2(MYL3):c.454G>A (p.Glu152Lys) rs199474705
NM_000258.2(MYL3):c.482-10C>T rs567723663
NM_000258.2(MYL3):c.64G>A (p.Ala22Thr) rs1427839320
NM_000259.3(MYO5A):c.855dup (p.Asn286Ter) rs1555445508
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667
NM_000260.4(MYO7A):c.135_136AC[3] (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1652T>C (p.Ile551Thr) rs1131691833
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2219G>C (p.Arg740Pro) rs782276748
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.3064_3067del (p.Leu1022fs) rs1064796130
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3587_3588CT[2] (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148
NM_000260.4(MYO7A):c.4074del (p.Glu1359fs) rs754104546
NM_000260.4(MYO7A):c.4442-1G>C rs1485456037
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.5636+2T>A rs1057518040
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg) rs1480640960
NM_000265.6(NCF1):c.285_288dup (p.Tyr97fs)
NM_000266.4(NDP):c.125A>G (p.His42Arg) rs104894874
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000266.4(NDP):c.267C>G (p.Phe89Leu) rs1057520333
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000267.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1527+5G>T rs1060500352
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1721G>T (p.Ser574Ile) rs1555613206
NM_000267.3(NF1):c.1722-1G>A rs1567845818
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2389del (p.Ala797fs) rs1555614016
NM_000267.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_000267.3(NF1):c.2693_2695TGT[1] (p.Leu899del) rs1064796946
NM_000267.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_000267.3(NF1):c.2791_2800del (p.Pro931fs) rs1064795730
NM_000267.3(NF1):c.281T>G (p.Leu94Arg)
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.2975T>A (p.Met992Lys) rs1567849596
NM_000267.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_000267.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.3002T>A (p.Val1001Glu) rs1131691844
NM_000267.3(NF1):c.3114-2A>G rs1428885377
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_000267.3(NF1):c.31C>T (p.Gln11Ter) rs876658658
NM_000267.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_000267.3(NF1):c.3299_3300CA[1] (p.Gln1101fs) rs1555614866
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_000267.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_000267.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4255A>C (p.Lys1419Gln) rs199474790
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4342A>T (p.Lys1448Ter) rs1567862353
NM_000267.3(NF1):c.4343_4355del (p.Lys1448fs) rs1567862349
NM_000267.3(NF1):c.4515-1G>C rs1555618999
NM_000267.3(NF1):c.4728dup (p.Thr1577fs) rs1253123816
NM_000267.3(NF1):c.4772+1G>T rs1085307819
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.5184dup (p.Asp1729fs) rs1555533409
NM_000267.3(NF1):c.5248A>G (p.Lys1750Glu) rs1131691103
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5453del (p.Ile1818fs)
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5589T>A (p.Phe1863Leu) rs1567613616
NM_000267.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys) rs1555607123
NM_000267.3(NF1):c.5944-1G>C rs1555534596
NM_000267.3(NF1):c.61-7486G>T
NM_000267.3(NF1):c.6287_6290del (p.Ser2096fs) rs1064795492
NM_000267.3(NF1):c.660_665del (p.Asn222_Trp223del) rs1064796137
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.7090_7095AACTTT[1] (p.2364_2365NF[1]) rs864622639
NM_000267.3(NF1):c.7254_7256AGC[1] (p.Ala2420del) rs1085307506
NM_000267.3(NF1):c.7514dup (p.Met2505fs) rs1555536367
NM_000267.3(NF1):c.7907+5G>T rs1567627286
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000268.3(NF2):c.2T>C (p.Met1Thr) rs1555978325
NM_000268.3(NF2):c.655G>A (p.Val219Met) rs1555994816
NM_000270.3(PNP):c.437C>T (p.Pro146Leu)
NM_000270.3(PNP):c.547G>T (p.Glu183Ter)
NM_000270.3(PNP):c.701G>C (p.Arg234Pro) rs104894451
NM_000270.3(PNP):c.769C>G (p.His257Asp)
NM_000271.5(NPC1):c.1018_1019AC[1] (p.Arg341fs) rs1555637255
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr) rs751951695
NM_000271.5(NPC1):c.1947+5G>C rs770321568
NM_000271.5(NPC1):c.2103C>G (p.Asn701Lys) rs7227375
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774
NM_000271.5(NPC1):c.2546G>T (p.Ser849Ile) rs1057519242
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.5(NPC1):c.3671T>G (p.Phe1224Cys) rs886043744
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) rs1243863645
NM_000272.4(NPHP1):c.2098G>C (p.Gly700Arg) rs760619900
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn) rs62635024
NM_000273.3(GPR143):c.686G>T (p.Gly229Val) rs62635037
NM_000274.3(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.3(OAT):c.772-1G>A rs770390524
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu) rs1057521742
NM_000276.4(OCRL):c.1124A>G (p.His375Arg) rs1057518276
NM_000276.4(OCRL):c.1505T>C (p.Leu502Pro) rs794727137
NM_000276.4(OCRL):c.1570C>T (p.His524Tyr) rs1057521952
NM_000276.4(OCRL):c.723-2dup rs1556345557
NM_000276.4(OCRL):c.952C>A (p.Arg318Ser)
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) rs62507265
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe) rs1565853526
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000280.4(PAX6):c.1088C>A (p.Ser363Ter) rs1411880763
NM_000280.4(PAX6):c.146C>A (p.Ser49Tyr) rs1554985430
NM_000280.4(PAX6):c.255C>T (p.Ser85=) rs1064793223
NM_000280.4(PAX6):c.365C>A (p.Ser122Ter) rs1554985100
NM_000280.4(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_000280.4(PAX6):c.622C>T (p.Arg208Trp) rs757259413
NM_000280.4(PAX6):c.917-9T>A rs1057517784
NM_000280.4(PAX6):c.978C>G (p.Tyr326Ter) rs786205467
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1747-3C>G rs1555455109
NM_000282.4(PCCA):c.2118+1G>A rs886043045
NM_000282.4(PCCA):c.2127_2128TG[1] (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.806A>G (p.His269Arg) rs886039751
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.947T>G (p.Met316Arg) rs137861347
NM_000283.3(PDE6B):c.1107+3A>G rs370898371
NM_000283.3(PDE6B):c.1206C>G (p.Tyr402Ter) rs1553810330
NM_000283.3(PDE6B):c.1468-2A>G rs763371769
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314
NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly) rs1057523018
NM_000284.4(PDHA1):c.1046C>T (p.Ala349Val) rs1131691952
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) rs1131691584
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser) rs1555933643
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys) rs1555933663
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg) rs886042089
NM_000284.4(PDHA1):c.642G>A (p.Trp214Ter) rs1569191659
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu) rs863224145
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.746T>G (p.Ile249Ser) rs1064793225
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val) rs1555934383
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter) rs529315200
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.616C>T (p.Gln206Ter) rs786205502
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.661G>T (p.Glu221Ter) rs786205580
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.922G>T (p.Asp308Tyr) rs1131691868
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000290.4(PGAM2):c.20del (p.Val7fs) rs764567774
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000291.4(PGK1):c.185G>A (p.Ser62Asn) rs1057524140
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000292.3(PHKA2):c.1325-2A>G rs1569310542
NM_000292.3(PHKA2):c.2395del (p.His799fs) rs1555995689
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) rs1555995635
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3599_3601del (p.Phe1200del) rs1064794657
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177
NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter) rs748262135
NM_000295.5(SERPINA1):c.646+1G>T rs751235320
NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs)
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)
NM_000297.4(PKD2):c.1548+1G>A
NM_000297.4(PKD2):c.1668dup (p.Gln557fs)
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys) rs398123307
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter)
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2272_2273AT[3] (p.Phe759fs) rs1560626561
NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter)
NM_000297.4(PKD2):c.2568dup (p.Val857fs)
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000297.4(PKD2):c.992G>C (p.Cys331Ser)
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000299.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.447+5G>A rs367852554
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.652C>G (p.His218Asp) rs398123310
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.228C>G (p.Ser76Arg) rs1555565283
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.390C>G (p.Tyr130Ter) rs1555564050
NM_000304.4(PMP22):c.431C>G (p.Pro144Arg) rs1555564032
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000307.5(POU3F4):c.385C>T (p.Gln129Ter) rs1569280197
NM_000307.5(POU3F4):c.410del (p.Pro137fs) rs1555984518
NM_000307.5(POU3F4):c.647G>A (p.Gly216Glu) rs866754647
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.740A>G (p.Tyr247Cys) rs764051026
NM_000312.3(PROC):c.-97_-91delGTTATGG rs1553423061
NM_000312.3(PROC):c.1216A>G (p.Met406Val) rs1553425459
NM_000312.3(PROC):c.169C>T (p.Arg57Trp) rs757583846
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.7(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.7(PTEN):c.113C>G (p.Pro38Arg) rs1064796886
NM_000314.7(PTEN):c.1212A>G (p.Ter404Trp) rs876660879
NM_000314.7(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.7(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000314.7(PTEN):c.209+2dup rs1064794925
NM_000314.7(PTEN):c.242T>G (p.Phe81Cys) rs876661177
NM_000314.7(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.7(PTEN):c.308_309del (p.Pro103fs) rs1554898088
NM_000314.7(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.7(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.7(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.7(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.7(PTEN):c.401T>G (p.Met134Arg) rs1085308046
NM_000314.7(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.7(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.7(PTEN):c.46T>G (p.Tyr16Asp) rs1064796078
NM_000314.7(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.7(PTEN):c.479C>T (p.Thr160Ile) rs1554898225
NM_000314.7(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.528T>G (p.Tyr176Ter) rs1057522285
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.7(PTEN):c.702_703delinsC (p.Glu235fs) rs1131691831
NM_000314.7(PTEN):c.76A>C (p.Thr26Pro) rs876661010
NM_000314.7(PTEN):c.942_943AT[1] (p.Tyr315fs) rs1064796128
NM_000315.4(PTH):c.166C>T (p.Arg56Cys) rs199955107
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.248C>A (p.Ala83Glu) rs775426269
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.44C>T (p.Ser15Phe) rs1555197885
NM_000319.4(PEX5):c.1694+5G>A rs1085307998
NM_000319.4(PEX5):c.1775C>T (p.Ser592Leu) rs748956654
NM_000319.4(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_000320.3(QDPR):c.44T>C (p.Val15Ala) rs750513275
NM_000320.3(QDPR):c.79G>A (p.Val27Met) rs762772317
NM_000321.2(RB1):c.1960+5G>A rs587778871
NM_000321.2(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.2(RB1):c.1994T>G (p.Leu665Arg) rs483352689
NM_000321.2(RB1):c.330_334AGATG[1] (p.Glu112fs) rs1064795438
NM_000322.5(PRPH2):c.174_184del (p.His58fs) rs1554270848
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964
NM_000322.5(PRPH2):c.465_466insTC (p.Ile156fs) rs1554270806
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn) rs1131691378
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000326.5(RLBP1):c.141+2T>C rs760650165
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000326.5(RLBP1):c.773T>G (p.Leu258Trp) rs786205494
NM_000328.3(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_000328.3(RPGR):c.1905+1176_1905+1186del rs1555961350
NM_000328.3(RPGR):c.1905+441del rs1064797365
NM_000328.3(RPGR):c.1905+511G>T rs1555961787
NM_000328.3(RPGR):c.1905+666del rs1555961704
NM_000328.3(RPGR):c.1905+700G>T rs1555961677
NM_000328.3(RPGR):c.1905+736G>T rs1569236609
NM_000328.3(RPGR):c.1905+742G>T rs1555961624
NM_000328.3(RPGR):c.1905+880G>T rs1057519236
NM_000328.3(RPGR):c.1905+959G>A rs1555961491
NM_000328.3(RPGR):c.1905+982del rs1064797364
NM_000328.3(RPGR):c.1905+990dup rs1569235999
NM_000328.3(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_000328.3(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_000328.3(RPGR):c.806G>A (p.Gly269Glu) rs398123336
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) rs1064795255
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000334.4(SCN4A):c.1996_2001dup (p.Ser666_Val667dup) rs1555603364
NM_000334.4(SCN4A):c.2011T>C (p.Phe671Leu) rs1057524290
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter) rs1567819954
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.3898_3900CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro) rs1057521065
NM_000335.4(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_000335.4(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.4(SCN5A):c.1190T>C (p.Ile397Thr) rs199473105
NM_000335.4(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.4(SCN5A):c.1273G>A (p.Ala425Thr) rs761117662
NM_000335.4(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.4(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573
NM_000335.4(SCN5A):c.1921C>T (p.Gln641Ter) rs1064795085
NM_000335.4(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579
NM_000335.4(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.4(SCN5A):c.1A>T (p.Met1Leu) rs1553607722
NM_000335.4(SCN5A):c.2103del (p.Leu702fs) rs794728911
NM_000335.4(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864
NM_000335.4(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.273+1G>A rs1057524447
NM_000335.4(SCN5A):c.2756T>C (p.Phe919Ser) rs794728868
NM_000335.4(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.4(SCN5A):c.2861_2862GA[2] (p.Glu955fs) rs756159737
NM_000335.4(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180
NM_000335.4(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825
NM_000335.4(SCN5A):c.3010_3022del (p.Cys1004fs) rs1064792926
NM_000335.4(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.4(SCN5A):c.3244del (p.Ser1082fs) rs1064795784
NM_000335.4(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405
NM_000335.4(SCN5A):c.3410A>C (p.Glu1137Ala) rs199473198
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.3626T>C (p.Phe1209Ser) rs794728875
NM_000335.4(SCN5A):c.3647T>G (p.Leu1216Arg) rs794728876
NM_000335.4(SCN5A):c.3837+1G>A rs1366120635
NM_000335.4(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858
NM_000335.4(SCN5A):c.393-2A>G rs1312714061
NM_000335.4(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.3960+1G>A rs483353016
NM_000335.4(SCN5A):c.3992C>G (p.Pro1331Arg) rs199473225
NM_000335.4(SCN5A):c.3992_3996del (p.Pro1331fs) rs1553695398
NM_000335.4(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133
NM_000335.4(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.4(SCN5A):c.4191del (p.Val1399fs) rs1064796233
NM_000335.4(SCN5A):c.4242+2T>A rs794728880
NM_000335.4(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939
NM_000335.4(SCN5A):c.4335G>A (p.Met1445Ile) rs794728936
NM_000335.4(SCN5A):c.4336T>C (p.Tyr1446His) rs1064793326
NM_000335.4(SCN5A):c.4343A>G (p.Tyr1448Cys) rs199473613
NM_000335.4(SCN5A):c.4414T>C (p.Phe1472Leu) rs1057523393
NM_000335.4(SCN5A):c.4421A>T (p.Gln1474Leu) rs794728885
NM_000335.4(SCN5A):c.4481A>C (p.Tyr1494Ser) rs199473262
NM_000335.4(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4745G>A (p.Arg1582His) rs199473621
NM_000335.4(SCN5A):c.483-1G>A rs794728846
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888
NM_000335.4(SCN5A):c.4910G>C (p.Arg1637Pro) rs374557801
NM_000335.4(SCN5A):c.4928G>A (p.Arg1643His) rs28937316
NM_000335.4(SCN5A):c.4948A>G (p.Met1650Val) rs794728889
NM_000335.4(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625
NM_000335.4(SCN5A):c.5023A>G (p.Met1675Val) rs794728890
NM_000335.4(SCN5A):c.5024T>C (p.Met1675Thr) rs750013499
NM_000335.4(SCN5A):c.5069T>C (p.Met1690Thr) rs794728891
NM_000335.4(SCN5A):c.5080C>T (p.Gln1694Ter) rs1085307710
NM_000335.4(SCN5A):c.5105G>A (p.Cys1702Tyr) rs794728892
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5137G>A (p.Asp1713Asn) rs794728893
NM_000335.4(SCN5A):c.5138A>G (p.Asp1713Gly) rs199473628
NM_000335.4(SCN5A):c.5187del (p.Thr1730fs) rs1085307527
NM_000335.4(SCN5A):c.5228G>T (p.Ser1743Ile) rs794728895
NM_000335.4(SCN5A):c.5282del (p.Ile1761fs) rs886039455
NM_000335.4(SCN5A):c.5317A>T (p.Asn1773Tyr) rs199473633
NM_000335.4(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897
NM_000335.4(SCN5A):c.539G>T (p.Gly180Val) rs794728847
NM_000335.4(SCN5A):c.5402A>G (p.Asp1801Gly) rs199473318
NM_000335.4(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.4(SCN5A):c.5473C>T (p.Arg1825Cys) rs199473635
NM_000335.4(SCN5A):c.5527_5530dup (p.Gly1844fs) rs1064794424
NM_000335.4(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.4(SCN5A):c.5621T>C (p.Met1874Thr) rs199473324
NM_000335.4(SCN5A):c.5623G>A (p.Glu1875Lys) rs794728900
NM_000335.4(SCN5A):c.5737A>G (p.Arg1913Gly) rs766751878
NM_000335.4(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603
NM_000335.4(SCN5A):c.5822_5823del (p.Pro1941fs) rs1553692416
NM_000335.4(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940
NM_000335.4(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.4(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106
NM_000335.4(SCN5A):c.5932A>T (p.Ser1978Cys) rs794728903
NM_000335.4(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197
NM_000335.4(SCN5A):c.611C>A (p.Ala204Glu) rs199473559
NM_000335.4(SCN5A):c.656G>A (p.Arg219His) rs878855296