ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
ClinVar version:

Total variants with conflicting interpretations: 6676

HGVS dbSNP
GRCh38/hg38 11q22.1(chr11:97849768-98439058)x1
GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3
GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3
GRCh38/hg38 15q13.3(chr15:31806467-32134668)x3
GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3
GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1
GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1
GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3
GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3
GRCh38/hg38 2p11.2(chr2:87148954-87655401)x3
GRCh38/hg38 2p11.2(chr2:87148954-87705899)x3
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3
GRCh38/hg38 2p25.3(chr2:84669-206271)x1
GRCh38/hg38 2q13(chr2:110104900-110201550)x1
GRCh38/hg38 4q35.2(chr4:189111218-189975519)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3
GRCh38/hg38 8q11.1(chr8:46031334-46662449)x1
GRCh38/hg38 8q11.1(chr8:46031334-46792065)x1
GRCh38/hg38 9p24.3(chr9:204193-295405)x3
GRCh38/hg38 9p24.3(chr9:204193-381489)x3
GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2
NC_000012.12:g.121626879_121626884delACCGCC rs1555322544
NM_000016.5(ACADM):c.*77C>T rs143911981
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000018.3(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.3(ACADVL):c.1473A>G (p.Leu491=) rs150518187
NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.3(ACADVL):c.1678+23C>T rs147546456
NM_000018.3(ACADVL):c.1828-4C>G rs184559206
NM_000018.3(ACADVL):c.1839G>A (p.Arg613=) rs79125791
NM_000018.3(ACADVL):c.623-8C>T rs144996066
NM_000018.3(ACADVL):c.636C>T (p.Ala212=) rs76547988
NM_000018.3(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000019.3(ACAT1):c.436-4G>A rs3741050
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000022.3(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.3(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.3(ADA):c.606+10G>A rs201045221
NM_000022.3(ADA):c.834T>C (p.His278=) rs116962828
NM_000023.3(SGCA):c.*10C>G rs60300808
NM_000026.3(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.3(ADSL):c.357+6C>T rs181628906
NM_000026.3(ADSL):c.357+7G>A rs199993991
NM_000026.3(ADSL):c.403-4G>A rs373652667
NM_000026.3(ADSL):c.702-7T>C rs201509960
NM_000026.3(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.3(ADSL):c.880T>C (p.Tyr294His) rs8192461
NM_000027.3(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.3(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000030.2(AGXT):c.*289A>C rs4344931
NM_000030.2(AGXT):c.*41C>A rs4273214
NM_000030.2(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.2(AGXT):c.165+16A>G rs66494441
NM_000030.2(AGXT):c.166-100A>C rs57017537
NM_000030.2(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.2(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.2(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.2(AGXT):c.358+13C>T rs34995778
NM_000030.2(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.2(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.2(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.2(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.2(AGXT):c.680+17C>T rs11693280
NM_000030.2(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.2(AGXT):c.976G>A (p.Val326Ile) rs115057148
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000033.3(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000035.4(ALDOB):c.-1C>T rs560091436
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000036.2(AMPD1):c.1323+8G>A rs140176911
NM_000036.2(AMPD1):c.1563G>A (p.Glu521=) rs80266556
NM_000036.2(AMPD1):c.1944C>T (p.Ile648=) rs34257411
NM_000036.2(AMPD1):c.323G>A (p.Arg108His) rs61738827
NM_000036.2(AMPD1):c.481-6delT rs727503806
NM_000038.5(APC):c.-30102G>A rs1057517570
NM_000038.5(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.5(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.5(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.5(APC):c.2031C>T (p.Val677=) rs769363082
NM_000038.5(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.5(APC):c.221A>C (p.Glu74Ala) rs773347338
NM_000038.5(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.5(APC):c.2476T>G (p.Leu826Val) rs145245264
NM_000038.5(APC):c.2627G>A (p.Arg876Gln) rs373428732
NM_000038.5(APC):c.277C>G (p.Leu93Val) rs201567345
NM_000038.5(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.5(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.5(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.5(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.5(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.5(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.5(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.5(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.5(APC):c.3909A>G (p.Gln1303=) rs746289994
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.5(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.5(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.5(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.5(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.5(APC):c.5506G>A (p.Gly1836Arg) rs766739164
NM_000038.5(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.5(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.5(APC):c.6363_6365dupTGC (p.Ala2122_Cys2123insAla) rs587780602
NM_000038.5(APC):c.6525A>G (p.Thr2175=) rs200151646
NM_000038.5(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.5(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.5(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.5(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.5(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.5(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.5(APC):c.7878T>G (p.Thr2626=) rs757020188
NM_000038.5(APC):c.8261G>A (p.Ser2754Asn) rs369721828
NM_000038.5(APC):c.835-3T>C rs372090940
NM_000043.5(FAS):c.183G>A (p.Lys61=) rs3218613
NM_000044.4(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000046.4(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.4(ARSB):c.113_121delGCGCCGGGG (p.Gly38_Gly40del) rs550086186
NM_000048.3(ASL):c.1278C>T (p.Cys426=) rs140770112
NM_000050.4(ASS1):c.106-10T>G rs73541957
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1887C>T (p.Ser629=) rs143097772
NM_000051.3(ATM):c.1953A>G (p.Leu651=) rs730881283
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2577C>T (p.Asn859=) rs730881286
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) rs370269552
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3577-13T>C rs587780856
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.5005+7_5005+8delTA rs587780626
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.566G>A (p.Arg189Lys) rs79075295
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6795C>T (p.Phe2265=) rs3218699
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.7983T>C (p.Asp2661=) rs143972422
NM_000051.3(ATM):c.8532T>C (p.Ile2844=) rs730881278
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8922G>A (p.Pro2974=) rs527248759
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.6(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.6(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000053.3(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.3(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.3(ATP7B):c.1947-4C>T rs74904335
NM_000053.3(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.3(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.3(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.3(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.3(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.3(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.3(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000057.3(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.3(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.3(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.3(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.3(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.3(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.3(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.3(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.3(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.3(BLM):c.3359-13A>G rs200250931
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.3(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.3(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.3(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.4077-10C>T rs145310008
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*14C>T rs373436334
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-15A>C rs138705202
NM_000059.3(BRCA2):c.-39-12_-39-10delTCT rs276174798
NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.3(BRCA2):c.10095delCinsGAATTATATCT (p.Ser3366Asnfs) rs276174803
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455
NM_000059.3(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.3(BRCA2):c.10176delA (p.Glu3393Asnfs) rs80359258
NM_000059.3(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402
NM_000059.3(BRCA2):c.1022G>T (p.Cys341Phe) rs80358403
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1059A>G (p.Ser353=) rs730881585
NM_000059.3(BRCA2):c.1074G>T (p.Val358=) rs276174805
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408
NM_000059.3(BRCA2):c.1124C>T (p.Pro375Leu) rs80358409
NM_000059.3(BRCA2):c.1141G>A (p.Asp381Asn) rs398122723
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1166C>T (p.Pro389Leu) rs397507263
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.122C>T (p.Pro41Leu) rs786201716
NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422
NM_000059.3(BRCA2):c.1354C>A (p.Leu452Ile) rs80358424
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1504A>C (p.Lys502Gln) rs276174809
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448
NM_000059.3(BRCA2):c.165_167delCAA (p.Asn56del) rs11571587
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.167A>C (p.Asn56Thr) rs80358454
NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.3(BRCA2):c.1744A>G (p.Thr582Ala) rs80358457
NM_000059.3(BRCA2):c.1749G>A (p.Leu583=) rs780324598
NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.3(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.3(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.3(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467
NM_000059.3(BRCA2):c.1814T>C (p.Ile605Thr) rs80358468
NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) rs76844014
NM_000059.3(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1909+22delT rs276174816
NM_000059.3(BRCA2):c.1909+22dupT rs276174816
NM_000059.3(BRCA2):c.1909+9_1909+10delGT rs527732001
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.2109C>T (p.Thr703=) rs762499878
NM_000059.3(BRCA2):c.2127G>C (p.Leu709=) rs554040246
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.3(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.3(BRCA2):c.2484T>C (p.Tyr828=) rs45619134
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521
NM_000059.3(BRCA2):c.2601T>G (p.Thr867=) rs730881589
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528
NM_000059.3(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.280C>T (p.Pro94Ser) rs80358531
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2926_2927delTCinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.317-12G>A rs81002841
NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720
NM_000059.3(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604
NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3715A>G (p.Lys1239Glu) rs374191973
NM_000059.3(BRCA2):c.3814A>G (p.Met1272Val) rs80358624
NM_000059.3(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919
NM_000059.3(BRCA2):c.3858_3860delAAA (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3874C>T (p.Leu1292=) rs587780867
NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636
NM_000059.3(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4062G>A (p.Thr1354=) rs768735660
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657
NM_000059.3(BRCA2):c.4146_4148delAGA (p.Glu1382del) rs80359432
NM_000059.3(BRCA2):c.4178C>T (p.Ala1393Val) rs398122776
NM_000059.3(BRCA2):c.4179G>A (p.Ala1393=) rs770531115
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.425+67A>C rs11571610
NM_000059.3(BRCA2):c.426-37T>A rs81002859
NM_000059.3(BRCA2):c.426-89T>C rs3783265
NM_000059.3(BRCA2):c.433_435delGTT (p.Val145del) rs80359442
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.441A>G (p.Gln147=) rs80358676
NM_000059.3(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506
NM_000059.3(BRCA2):c.4578A>G (p.Thr1526=) rs202022822
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.3(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) rs750813972
NM_000059.3(BRCA2):c.4718G>A (p.Cys1573Tyr) rs56249050
NM_000059.3(BRCA2):c.476-9_476-8insT rs276174849
NM_000059.3(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) rs80358705
NM_000059.3(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716
NM_000059.3(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.3(BRCA2):c.497A>T (p.His166Leu) rs876658364
NM_000059.3(BRCA2):c.5020A>G (p.Ser1674Gly) rs80358725
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.3(BRCA2):c.516+17G>T rs765435155
NM_000059.3(BRCA2):c.516+18T>C rs81002834
NM_000059.3(BRCA2):c.517-11T>C rs81002828
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.521G>A (p.Arg174His) rs80358747
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.53G>A (p.Arg18His) rs80358762
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5474C>T (p.Ala1825Val) rs397507352
NM_000059.3(BRCA2):c.5529A>T (p.Ala1843=) rs372951842
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5631C>T (p.Asn1877=) rs374326934
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797
NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005
NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628
NM_000059.3(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820
NM_000059.3(BRCA2):c.5897A>G (p.His1966Arg) rs80358823
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.3(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.3(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.3(BRCA2):c.631+43G>T rs276174869
NM_000059.3(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.3(BRCA2):c.632-16A>C rs81002905
NM_000059.3(BRCA2):c.632-69T>C rs61948377
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880
NM_000059.3(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881
NM_000059.3(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558
NM_000059.3(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.67+17T>C rs767648965
NM_000059.3(BRCA2):c.67+4T>C rs373546450
NM_000059.3(BRCA2):c.67+62T>G rs11571574
NM_000059.3(BRCA2):c.67+82C>G rs189026060
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.68-7delT rs276174878
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.681+56C>G rs2126042
NM_000059.3(BRCA2):c.681+56C>T rs2126042
NM_000059.3(BRCA2):c.682-12_682-11delTA rs276174879
NM_000059.3(BRCA2):c.682-13A>G rs81002888
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6841+80_6841+83delTTAA rs11571661
NM_000059.3(BRCA2):c.6842-20T>A rs81002811
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.6892G>A (p.Glu2298Lys) rs80358914
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.6937+13T>G rs587780868
NM_000059.3(BRCA2):c.6937+594T>G rs191253965
NM_000059.3(BRCA2):c.6960G>A (p.Leu2320=) rs373134168
NM_000059.3(BRCA2):c.7008-20_7008-17del4 rs276174887
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.3(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955
NM_000059.3(BRCA2):c.7317A>G (p.Gly2439=) rs587780660
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C= (p.Ala2466=) rs169547
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.7415A>C (p.Lys2472Thr) rs80358963
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7436-4A>G rs81002904
NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7499G>C (p.Arg2500Thr) rs80358976
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7505G>A (p.Arg2502His) rs56070345
NM_000059.3(BRCA2):c.7521A>G (p.Pro2507=) rs759383358
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7559G>A (p.Arg2520Gln) rs80358982
NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012
NM_000059.3(BRCA2):c.7618-21G>T rs376957350
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7805+13A>G rs149769332
NM_000059.3(BRCA2):c.7805+6C>G rs81002819
NM_000059.3(BRCA2):c.7806-40A>G rs9590939
NM_000059.3(BRCA2):c.7916C>T (p.Pro2639Leu) rs774723315
NM_000059.3(BRCA2):c.794-11T>C rs81002822
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.3(BRCA2):c.79A>G (p.Ile27Val) rs80359034
NM_000059.3(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038
NM_000059.3(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051
NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055
NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) rs587780662
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8182G>C (p.Val2728Leu) rs28897749
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.8298A>G (p.Thr2766=) rs730881594
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.3(BRCA2):c.8332-66T>C rs81002808
NM_000059.3(BRCA2):c.8332-6G>T rs587780872
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8487+47C>T rs11571744
NM_000059.3(BRCA2):c.8487+8G>A rs81002838
NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8632+14T>C rs730881596
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.8633-26A>G rs56268579
NM_000059.3(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123
NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) rs80359128
NM_000059.3(BRCA2):c.8694G>A (p.Leu2898=) rs556762256
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8755-17A>G rs431825370
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.3(BRCA2):c.8953+16C>T rs81002892
NM_000059.3(BRCA2):c.8954-5_8954-2delAACA rs587782878
NM_000059.3(BRCA2):c.8972G>A (p.Arg2991His) rs80359150
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254
NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) rs368576266
NM_000059.3(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.3(BRCA2):c.9118-4G>A rs879255471
NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177
NM_000059.3(BRCA2):c.9234C>T (p.Val3078=) rs587782428
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9257-17dupT rs276174919
NM_000059.3(BRCA2):c.9257-83G>A rs9595456
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194
NM_000059.3(BRCA2):c.927A>G (p.Ser309=) rs80359806
NM_000059.3(BRCA2):c.9285C>T (p.Asp3095=) rs80359198
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9501+3A>T rs61757642
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.9502-12T>G rs81002803
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.9547A>G (p.Ile3183Val) rs377123889
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.3(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227
NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9605C>T (p.Pro3202Leu) rs397507432
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9648+106delT rs11571824
NM_000059.3(BRCA2):c.9648+84G>A rs81002832
NM_000059.3(BRCA2):c.9649-20C>T rs56177715
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9738C>A (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9839C>A (p.Pro3280His) rs80359246
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.3(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000068.3(CACNA1A):c.1785-6C>T rs201350764
NM_000069.2(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.2(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.2(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.2(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000070.2(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.2(CAPN3):c.2264-11C>T rs28364537
NM_000070.2(CAPN3):c.2381-12A>G rs73402734
NM_000070.2(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.2(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.829-12C>T rs75616587
NM_000071.2(CBS):c.829-13G>A rs201106576
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000074.2(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000075.3(CDK4):c.523-4T>A rs587780667
NM_000075.3(CDK4):c.660C>T (p.Ala220=) rs773490152
NM_000075.3(CDK4):c.684-4A>T rs370609910
NM_000076.2(CDKN1C):c.353C>T (p.Pro118Leu) rs771731330
NM_000076.2(CDKN1C):c.567_572delTCCGGC (p.Ala193_Pro194del) rs878853632
NM_000076.2(CDKN1C):c.624_629dupGGCCCC (p.Pro216_Asp217insAlaPro) rs759134767
NM_000077.4(CDKN2A):c.-14C>T rs764244718
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.4(CDKN2A):c.273G>A (p.Leu91=) rs4987127
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000077.4(CDKN2A):c.83T>G (p.Val28Gly) rs775176191
NM_000079.3(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716
NM_000080.3(CHRNE):c.*6A>G rs55806270
NM_000080.3(CHRNE):c.1220-5G>A rs188564977
NM_000080.3(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.3(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.3(CHRNE):c.1425C>T (p.Leu475=) rs151193377
NM_000081.3(LYST):c.-5C>T rs141317482
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.2908A>C (p.Ile970Leu)
NM_000081.3(LYST):c.368A>G (p.His123Arg)
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.6292G>A (p.Ala2098Thr)
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_000081.3(LYST):c.7059+7G>A rs111764031
NM_000081.3(LYST):c.9C>T (p.Thr3=) rs33998267
NM_000082.3(ERCC8):c.363T>C (p.Asp121=) rs4647088
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000087.3(CNGA1):c.312A>G (p.Glu104=) rs76061451
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1348-4delT rs758567906
NM_000090.3(COL3A1):c.1348-4dupT rs758567906
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_000093.4(COL5A1):c.2331+16G>A rs199654385
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3345G>A (p.Pro1115=) rs764683617
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.4068+7G>A rs587780905
NM_000093.4(COL5A1):c.5370+11C>T rs764644830
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.924+14G>A rs200595318
NM_000094.3(COL7A1):c.4483-11T>C rs74390291
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000096.3(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.3(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000098.2(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000098.2(CPT2):c.353A>G (p.Asp118Gly) rs148035648
NM_000098.2(CPT2):c.588T>C (p.Pro196=) rs140853350
NM_000100.3(CSTB):c.-42C>T rs776181852
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000101.3(CYBA):c.403G>A (p.Glu135Lys) rs114610092
NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000109.3(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000115.4(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_000116.4(TAZ):c.110-17C>T rs62617809
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000119.2(EPB42):c.1408+4C>T rs45498491
NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000126.3(ETFA):c.186+7A>G rs184587113
NM_000126.3(ETFA):c.562+11A>T rs143834701
NM_000135.2(FANCA):c.1359+10C>T rs34159559
NM_000135.2(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.2(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.2(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.2(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.2(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.2(FANCA):c.3935-9G>A rs9282680
NM_000135.2(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.2(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.2(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.3(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000136.2(FANCC):c.*7C>T rs372511678
NM_000136.2(FANCC):c.1073-5C>T rs375613884
NM_000136.2(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.2(FANCC):c.345+8_345+9delAG rs755657969
NM_000136.2(FANCC):c.457-7T>C rs749994612
NM_000136.2(FANCC):c.522-4A>G rs371422485
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.2(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.2(FANCC):c.672C>T (p.Asn224=) rs150647141
NM_000136.2(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.2(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000137.2(FAH):c.-34C>T rs142522569
NM_000137.2(FAH):c.139A>G (p.Lys47Glu) rs34749737
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.1323A>G (p.Pro441=) rs202030761
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3082+8delG rs193922196
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4443C>T (p.Ser1481=) rs145040593
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.539-15delA rs193922211
NM_000138.4(FBN1):c.5672-3T>C rs193922217
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.6288C>T (p.Cys2096=) rs144822241
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6852T>C (p.Pro2284=) rs201226058
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000142.4(FGFR3):c.1497C>T (p.Ala499=) rs140594137
NM_000142.4(FGFR3):c.252G>A (p.Ser84=) rs367973461
NM_000143.3(FH):c.702T>G (p.Thr234=) rs201083387
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
NM_000150.2(FUT6):c.945C>A (p.Tyr315Ter) rs145035679
NM_000151.3(G6PC):c.-45G>A rs367816430
NM_000152.3(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.3(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.4(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.4(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.4(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.4(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.4(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.4(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000153.3(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.3(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.3(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.3(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000155.3(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000156.5(GAMT):c.392-7C>T rs192416474
NM_000156.5(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.5(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.3(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000162.3(GCK):c.46-12C>T rs142829768
NM_000168.5(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.871T>G (p.Cys291Gly) rs141014950
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000179.2(MSH6):c.*85T>A rs2020906
NM_000179.2(MSH6):c.-18G>T rs199913053
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1049C>T (p.Ala350Val) rs587782331
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1176T>C (p.Asp392=) rs587779912
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.161G>C (p.Gly54Ala) rs63751098
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.194C>T (p.Ser65Leu) rs41294984
NM_000179.2(MSH6):c.2239C>T (p.Leu747=) rs63751305
NM_000179.2(MSH6):c.241G>A (p.Ala81Thr) rs587779239
NM_000179.2(MSH6):c.242C>T (p.Ala81Val) rs587779924
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3024C>T (p.Thr1008=) rs587780675
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.333C>T (p.Tyr111=) rs786202772
NM_000179.2(MSH6):c.3399T>C (p.Thr1133=) rs61748084
NM_000179.2(MSH6):c.3438+11_3438+14delCTTA rs377746844
NM_000179.2(MSH6):c.3439-10T>A rs730881819
NM_000179.2(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3557-3A>T rs41295274
NM_000179.2(MSH6):c.3557-4delT rs267608102
NM_000179.2(MSH6):c.3647-51_3647-35dup rs267607687
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.3675G>A (p.Thr1225=) rs730881820
NM_000179.2(MSH6):c.3729A>G (p.Thr1243=) rs773807182
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3852G>A (p.Thr1284=) rs2229018
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.4001+11_4001+15dupAACTA rs587779302
NM_000179.2(MSH6):c.4001+2_4001+5delTAAC rs267608132
NM_000179.2(MSH6):c.4001+4_4001+8dupACTAA rs587782853
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4002-14T>C rs587781041
NM_000179.2(MSH6):c.4068_4071dupGATT (p.Lys1358Aspfs) rs55740729
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000181.3(GUSB):c.678C>T (p.Thr226=) rs537957979
NM_000182.4(HADHA):c.1690-6G>A rs111662358
NM_000182.4(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.4(HADHA):c.68-10T>G rs144414842
NM_000183.2(HADHB):c.812-5A>T rs72851534
NM_000183.2(HADHB):c.830A>G (p.Lys277Arg) rs57969630
NM_000183.2(HADHB):c.891C>T (p.Ile297=) rs56902571
NM_000192.3(TBX5):c.663+36G>T rs2236017
NM_000193.3(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.3(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000195.4(HPS1):c.*12C>T rs112544050
NM_000195.4(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000202.7(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.4(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.4(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000208.3(INSR):c.2971C>A (p.Leu991Ile) rs150114699
NM_000208.3(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.3(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.3(PDX1):c.726_728dupGCC (p.Pro244_Gly245insPro) rs193922357
NM_000211.4(ITGB2):c.1026G>C (p.Val342=) rs142185460
NM_000211.4(ITGB2):c.162G>A (p.Pro54=) rs138303556
NM_000211.4(ITGB2):c.31C>T (p.Leu11=) rs5030667
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000215.3(JAK3):c.1548C>T (p.Ile516=) rs144203232
NM_000215.3(JAK3):c.2451C>T (p.Phe817=) rs201576913
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1128+4C>T rs201590918
NM_000218.2(KCNQ1):c.1129-8G>A rs200612600
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.2(KCNQ1):c.386+16216G>A rs201090517
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000222.2(KIT):c.1199A>G (p.Asn400Ser) rs72549294
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000231.2(SGCG):c.*10G>A rs139369964
NM_000231.2(SGCG):c.479T>C (p.Val160Ala) rs527562042
NM_000231.2(SGCG):c.579-21_579-20delTG rs769893030
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000235.3(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000237.3(LPL):c.678A>G (p.Pro226=) rs558390128
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.3(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.3(KCNH2):c.2127C>T (p.Asn709=) rs768572372
NM_000238.3(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_000238.3(KCNH2):c.2398+105delC rs546898924
NM_000238.3(KCNH2):c.2454G>A (p.Ser818=) rs72549418
NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_000238.3(KCNH2):c.568G>A (p.Ala190Thr) rs150817714
NM_000238.3(KCNH2):c.77-5C>G rs72549419
NM_000238.3(KCNH2):c.817C>A (p.Arg273=) rs552583527
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
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.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000245.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000245.3(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_000246.3(CIITA):c.200-10T>C rs45474796
NM_000246.3(CIITA):c.3255G>A (p.Thr1085=) rs75521576
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.772+8C>T rs557455283
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-7C>T rs104894994
NM_000249.3(MLH1):c.-93G>A rs1800734
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1040C>A (p.Thr347Asn) rs201541505
NM_000249.3(MLH1):c.1104G>A (p.Ser368=) rs769364808
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.3(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.3(MLH1):c.1269G>A (p.Arg423=) rs373076967
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1559-11T>C rs730881750
NM_000249.3(MLH1):c.1652A>G (p.Asn551Ser) rs63750271
NM_000249.3(MLH1):c.1731+8T>C rs370108219
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.1897-17C>G rs2308316
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2074T>C (p.Ser692Pro) rs587779957
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2104-11G>A rs147984696
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) rs140195825
NM_000249.3(MLH1):c.277A>G (p.Ser93Gly) rs41295282
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.3(MLH1):c.479C>T (p.Ala160Val) rs63749924
NM_000249.3(MLH1):c.545+19G>T rs41285099
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.803A>G (p.Glu268Gly) rs63750650
NM_000249.3(MLH1):c.884+16A>G rs377598055
NM_000249.3(MLH1):c.885-16_885-15delCT rs267607804
NM_000249.3(MLH1):c.954C>T (p.His318=) rs146777069
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.-68-111C>T rs17224094
NM_000251.2(MSH2):c.-9G>C rs547444746
NM_000251.2(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1276+11A>G rs189015988
NM_000251.2(MSH2):c.1276+16G>A rs368120695
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1311G>T (p.Val437=) rs730881781
NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) rs35107951
NM_000251.2(MSH2):c.1560A>G (p.Gly520=) rs63750820
NM_000251.2(MSH2):c.1563T>C (p.Tyr521=) rs63750330
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1680T>C (p.Asn560=) rs200056411
NM_000251.2(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) rs549467183
NM_000251.2(MSH2):c.2005+8dupA rs267607992
NM_000251.2(MSH2):c.211+8C>T rs267607916
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.2210+11_2210+22delCTCCTAGTCCCT rs730881782
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.2425G>A (p.Glu809Lys) rs202145681
NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) rs63750757
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.2(MSH2):c.2802G>A (p.Thr934=) rs150259097
NM_000251.2(MSH2):c.317G>A (p.Arg106Lys) rs41295286
NM_000251.2(MSH2):c.336C>A (p.Ser112=) rs34312619
NM_000251.2(MSH2):c.367-19A>T rs730881783
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.399C>T (p.Asp133=) rs61756462
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.505A>G (p.Ile169Val) rs63750716
NM_000251.2(MSH2):c.7G>T (p.Val3Leu)
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.942+20_942+29delAAAAAAAAAA rs11309117
NM_000251.2(MSH2):c.944G>T (p.Gly315Val) rs202026056
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.1076-8C>T rs115186224
NM_000254.2(MTR):c.1437C>T (p.Asp479=) rs115424814
NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) rs1805087
NM_000254.2(MTR):c.3474G>A (p.Leu1158=) rs142113735
NM_000255.3(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.3(MMUT):c.711A>G (p.Pro237=) rs138085432
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1227-10C>T rs374673836
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=) rs375467797
NM_000256.3(MYBPC3):c.2148+6_2148+9delTGAG rs397515949
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2149-8C>G rs397515950
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.2334C>T (p.Asp778=) rs2069544
NM_000257.3(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.3(MYH7):c.4354-6G>A rs368078397
NM_000257.3(MYH7):c.4911C>T (p.Ala1637=) rs151113658
NM_000257.3(MYH7):c.540C>A (p.Ser180=) rs369490861
NM_000257.3(MYH7):c.5562G>A (p.Thr1854=) rs368706722
NM_000257.3(MYH7):c.5718A>C (p.Ala1906=) rs45523233
NM_000257.3(MYH7):c.633G>A (p.Pro211=) rs587781087
NM_000257.3(MYH7):c.714C>T (p.Asn238=) rs202141819
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=) rs587780395
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000260.3(MYO7A):c.1554+8G>A rs111033227
NM_000260.3(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.3(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.3(MYO7A):c.3750+9G>A rs111033252
NM_000260.3(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000263.3(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.3(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.3(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092
NM_000264.4(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000264.4(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954
NM_000264.4(PTCH1):c.1847+14C>T rs202007968
NM_000264.4(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400
NM_000264.4(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697
NM_000264.4(PTCH1):c.2304C>T (p.Thr768=) rs1805156
NM_000264.4(PTCH1):c.2678G>A (p.Arg893His) rs138154222
NM_000264.4(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896
NM_000264.4(PTCH1):c.2787C>T (p.Asn929=) rs145196322
NM_000264.4(PTCH1):c.2892G>A (p.Pro964=) rs377213209
NM_000264.4(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.4(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.4(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326
NM_000264.4(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000268.3(NF2):c.107A>G (p.Asn36Ser) rs372279458
NM_000268.3(NF2):c.1123-6C>T rs147898623
NM_000268.3(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.3(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.3(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.4(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.4(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000272.3(NPHP1):c.2081A>G (p.Gln694Arg) rs186950965
NM_000272.3(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000275.2(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000276.3(OCRL):c.439+3A>G rs61752971
NM_000277.1(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000282.3(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.3(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000288.3(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000289.5(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000290.3(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000292.2(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929
NM_000293.2(PHKB):c.2278+15C>G rs201402032
NM_000293.2(PHKB):c.2433T>G (p.Thr811=) rs187940556
NM_000293.2(PHKB):c.2459A>T (p.Glu820Val) rs9934849
NM_000293.2(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.2(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000294.2(PHKG2):c.1137T>C (p.Pro379=) rs61731628
NM_000294.2(PHKG2):c.174A>T (p.Thr58=) rs56207641
NM_000294.2(PHKG2):c.324C>T (p.Asp108=) rs138416154
NM_000295.4(SERPINA1):c.-10T>C rs11558258
NM_000295.4(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000296.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_000297.3(PKD2):c.1546G>T (p.Val516Leu) rs143581690
NM_000297.3(PKD2):c.2295T>C (p.Asp765=) rs138982773
NM_000297.3(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000302.3(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.3(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000303.2(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.2(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000304.3(PMP22):c.152A>G (p.His51Arg) rs368908933
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.*6G>A rs113082671
NM_000311.4(PRNP):c.512A>G (p.Asn171Ser) rs16990018
NM_000311.4(PRNP):c.655G>A (p.Glu219Lys) rs1800014
NM_000313.3(PROS1):c.1377A>G (p.Gly459=) rs371312357
NM_000313.3(PROS1):c.1762A>G (p.Thr588Ala) rs142846443
NM_000313.3(PROS1):c.234+5G>A rs187264712
NM_000313.3(PROS1):c.698G>A (p.Arg233Lys) rs41267007
NM_000313.3(PROS1):c.76+7A>G rs201928951
NM_000314.6(PTEN):c.*10delT rs756681683
NM_000314.6(PTEN):c.-533_-531dup rs34413673
NM_000314.6(PTEN):c.-975G>A rs587780001
NM_000314.6(PTEN):c.210-39A>G rs370918174
NM_000314.6(PTEN):c.254-30dupT rs77494260
NM_000314.6(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.6(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.6(PTEN):c.802-51_802-14del38 rs557364463
NM_000314.7(PTEN):c.-1084C>T rs538728843
NM_000314.7(PTEN):c.-1142C>T rs563841270
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000318.2(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000318.2(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000318.2(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) rs4151534
NM_000321.2(RB1):c.1707A>G (p.Leu569=) rs3092895
NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.2(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000321.2(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.2(RB1):c.2392C>T (p.Arg798Trp) rs187912365
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.2570G>A (p.Arg857His) rs144668210
NM_000321.2(RB1):c.2652A>C (p.Glu884Asp) rs765537411
NM_000321.2(RB1):c.367A>G (p.Asn123Asp) rs149800437
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.2(RB1):c.52G>T (p.Ala18Ser) rs528218090
NM_000321.2(RB1):c.628G>T (p.Asp210Tyr) rs148992508
NM_000321.2(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000328.2(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000334.4(SCN4A):c.1100+7G>A rs200770684
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110
NM_000334.4(SCN4A):c.3774+8G>A rs374806849
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000335.4(SCN5A):c.2436+12G>A rs41312419
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000336.2(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.699+18C>G rs180898690
NM_000339.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751
NM_000340.1(SLC2A2):c.*8delA rs573575421
NM_000350.2(ABCA4):c.1500G>A (p.Arg500=) rs139050119
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.2(ABCA4):c.2588-12C>G rs61751396
NM_000350.2(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000352.4(ABCC8):c.-19A>G rs193922394
NM_000355.3(TCN2):c.138C>T (p.Ser46=) rs143250551
NM_000355.3(TCN2):c.265T>C (p.Phe89Leu) rs35915865
NM_000355.3(TCN2):c.428-4T>C rs201408393
NM_000355.3(TCN2):c.501C>T (p.His167=) rs144652799
NM_000355.3(TCN2):c.840T>C (p.Asp280=) rs79999752
NM_000355.3(TCN2):c.877C>T (p.Leu293=) rs45624233
NM_000356.3(TCOF1):c.4146_4148delGAA (p.Lys1383del) rs151344581
NM_000360.3(TH):c.1368C>T (p.Ser456=) rs45538536
NM_000360.3(TH):c.252G>A (p.Leu84=) rs758016812
NM_000360.3(TH):c.313-9C>T rs538345855
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000363.4(TNNI3):c.12-7delC rs370714315
NM_000363.4(TNNI3):c.151-6C>G rs377258542
NM_000363.4(TNNI3):c.25-4C>T rs202086705
NM_000363.4(TNNI3):c.373-10G= rs7252610
NM_000366.5(TPM1):c.375-3C>T rs202228866
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1051A>G (p.Met351Val) rs781312535
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1439-4T>C rs762473323
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) rs118203548
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) rs377185303
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1795G>A (p.Gly599Arg) rs761959210
NM_000368.4(TSC1):c.1916G>T (p.Gly639Val) rs372583166
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
NM_000368.4(TSC1):c.2626-6_2626-4dupTTT rs5901000
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.397G>A (p.Val133Ile) rs118203381
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591
NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000371.3(TTR):c.*21C>A rs12226
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.3(TTR):c.437A>G (p.Lys146Arg) rs536294863
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000383.3(AIRE):c.1566+8C>T rs72650680
NM_000383.3(AIRE):c.595G>A (p.Val199Ile) rs74162061
NM_000383.3(AIRE):c.652+14C>T rs41277546
NM_000384.2(APOB):c.10061C>G (p.Ala3354Gly) rs61742331
NM_000384.2(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.2(APOB):c.10520G>C (p.Arg3507Pro) rs201156840
NM_000384.2(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.2(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.2(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.11761G>A (p.Val3921Ile) rs72654409
NM_000384.2(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.2(APOB):c.11854C>T (p.Arg3952Cys) rs535121944
NM_000384.2(APOB):c.12088-13delT rs751121092
NM_000384.2(APOB):c.12088-14T>C rs182329513
NM_000384.2(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.2(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.2(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.2(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.2(APOB):c.12766G>A (p.Glu4256Lys) rs61743313
NM_000384.2(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.2(APOB):c.13154G>A (p.Arg4385His) rs533755016
NM_000384.2(APOB):c.13160A>T (p.Glu4387Val) rs150412734
NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.2(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.2(APOB):c.1353-12C>T rs76202659
NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.2(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.2(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.2(APOB):c.3034G>A (p.Glu1012Lys) rs575505383
NM_000384.2(APOB):c.3122-6G>A rs72653071
NM_000384.2(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.2(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.2(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.2(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000384.2(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.2(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.2(APOB):c.4449A>G (p.Glu1483=) rs151018874
NM_000384.2(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.2(APOB):c.61_66dup (p.Leu22_Ala23insLeuLeu) rs745520533
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
NM_000384.2(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.2(APOB):c.6937G>A (p.Val2313Ile) rs584542
NM_000384.2(APOB):c.7242A>C (p.Glu2414Asp) rs72653091
NM_000384.2(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.2(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.2(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.2(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.2(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.2(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.2(APOB):c.8889C>T (p.Ile2963=) rs72653097
NM_000384.2(APOB):c.905-15C>G rs72653061
NM_000384.2(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000388.3(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000391.3(TPP1):c.-40T>C rs200184958
NM_000391.3(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.3(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.3(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.3(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.3(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.3(TPP1):c.887-6delA rs35039601
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) rs17222596
NM_000392.5(ABCC2):c.4509-9T>C rs180717330
NM_000393.3(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.1923+8T>C rs191193125
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000399.3(EGR2):c.174C>T (p.Gly58=) rs143793213
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000403.3(GALE):c.912G>A (p.Val304=) rs143694860
NM_000404.3(GLB1):c.-37C>G rs115554377
NM_000411.6(HLCS):c.-254C>T rs149104163
NM_000411.6(HLCS):c.2174G>A (p.Arg725Gln) rs147474255
NM_000411.6(HLCS):c.424G>A (p.Val142Ile) rs149291867
NM_000414.3(HSD17B4):c.*6A>G rs111671384
NM_000414.3(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.3(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.3(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000416.2(IFNGR1):c.42G>A (p.Val14=) rs17181471
NM_000416.2(IFNGR1):c.48G>A (p.Arg16=) rs11575931
NM_000417.2(IL2RA):c.272C>T (p.Thr91Met) rs72650666
NM_000417.2(IL2RA):c.711A>G (p.Thr237=) rs11256354
NM_000425.4(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_000425.4(L1CAM):c.3015C>T (p.Ile1005=) rs202082978
NM_000425.4(L1CAM):c.338G>A (p.Arg113His) rs781908326
NM_000425.4(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875
NM_000425.4(L1CAM):c.400+9C>T rs201057718
NM_000426.3(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1701C>T (p.Ile567=) rs111381107
NM_000426.3(LAMA2):c.1930C>G (p.His644Asp) rs35879899
NM_000426.3(LAMA2):c.2115T>G (p.Leu705=) rs149753273
NM_000426.3(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605
NM_000426.3(LAMA2):c.2304C>T (p.Asp768=) rs142126511
NM_000426.3(LAMA2):c.2462C>T (p.Thr821Met) rs117422805
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.3556-15T>G rs17741922
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4349G>A (p.Arg1450Gln) rs148905630
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720
NM_000426.3(LAMA2):c.5688C>T (p.His1896=) rs573779258
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6788C>T (p.Thr2263Met) rs56209257
NM_000426.3(LAMA2):c.7965C>A (p.Ile2655=) rs141101234
NM_000426.3(LAMA2):c.8982T>C (p.Asp2994=) rs79374915
NM_000426.3(LAMA2):c.9123C>T (p.Val3041=) rs61749497
NM_000431.3(MVK):c.226+4A>G rs145732290
NM_000431.3(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.3(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.3(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000432.3(MYL2):c.170-19T>C rs115522476
NM_000432.3(MYL2):c.3+9A>G rs201763406
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000433.3(NCF2):c.1001-10T>G rs36113295
NM_000433.3(NCF2):c.1360C>T (p.Pro454Ser) rs55761650
NM_000433.3(NCF2):c.174+8G>C rs34009795
NM_000435.2(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000436.3(OXCT1):c.79-11delT rs748715820
NM_000440.2(PDE6A):c.1476A>C (p.Gln492His) rs17711594
NM_000440.2(PDE6A):c.998+11C>T rs75319698
NM_000441.1(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000443.3(ABCB4):c.1893+6T>C rs8187798
NM_000443.3(ABCB4):c.1938T>C (p.Asp646=) rs553616378
NM_000444.5(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.5(PHEX):c.957G>A (p.Lys319=) rs373261521
NM_000445.4(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.4(PLEC):c.10737G>A (p.Val3579=) rs368312695
NM_000445.4(PLEC):c.10840C>T (p.Leu3614=) rs200006106
NM_000445.4(PLEC):c.11499C>T (p.Thr3833=) rs559510708
NM_000445.4(PLEC):c.12075C>T (p.Pro4025=) rs113137721
NM_000445.4(PLEC):c.12297C>T (p.Phe4099=) rs150427959
NM_000445.4(PLEC):c.1239C>G (p.Ser413Arg) rs201667254
NM_000445.4(PLEC):c.12957G>A (p.Val4319=) rs199509259
NM_000445.4(PLEC):c.1959T>A (p.Thr653=) rs377039110
NM_000445.4(PLEC):c.2385+13dupG rs35671527
NM_000445.4(PLEC):c.2539-7G>A rs372799330
NM_000445.4(PLEC):c.2539-8C>T rs201818691
NM_000445.4(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.4(PLEC):c.5472C>T (p.Arg1824=) rs551187778
NM_000445.4(PLEC):c.5601C>T (p.Ala1867=) rs374790646
NM_000445.4(PLEC):c.6243C>T (p.His2081=) rs563719398
NM_000445.4(PLEC):c.6381G>A (p.Ala2127=) rs188154081
NM_000445.4(PLEC):c.6675C>T (p.Thr2225=) rs144242254
NM_000445.4(PLEC):c.7182G>A (p.Thr2394=) rs202132558
NM_000445.4(PLEC):c.7348G>A (p.Ala2450Thr) rs193257576
NM_000445.4(PLEC):c.7911G>A (p.Ala2637=) rs376112916
NM_000445.4(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_000445.4(PLEC):c.9639A>G (p.Thr3213=) rs201102719
NM_000447.2(PSEN2):c.756G>C (p.Ala252=) rs147702142
NM_000447.2(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000448.2(RAG1):c.577G>A (p.Glu193Lys) rs34841221
NM_000449.3(RFX5):c.1495C>T (p.Pro499Ser) rs2233855
NM_000449.3(RFX5):c.590G>A (p.Arg197Gln) rs2233851
NM_000449.3(RFX5):c.982C>A (p.Arg328=) rs78854744
NM_000449.3(RFX5):c.984G>A (p.Arg328=) rs374283593
NM_000451.3(SHOX):c.144G>A (p.Glu48=)
NM_000452.2(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830
NM_000455.4(STK11):c.*8C>T rs587782259
NM_000455.4(STK11):c.-2G>T rs774072752
NM_000455.4(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.4(STK11):c.1109-5C>T rs587782020
NM_000455.4(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.4(STK11):c.374+11C>T rs368923696
NM_000455.4(STK11):c.579C>T (p.Ser193=) rs730881961
NM_000455.4(STK11):c.612C>T (p.Phe204=) rs774100153
NM_000455.4(STK11):c.615G>A (p.Ala205=) rs532889728
NM_000455.4(STK11):c.618G>A (p.Ala206=) rs370976710
NM_000455.4(STK11):c.734+20G>A rs375315233
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.876C>T (p.Tyr292=) rs148928808
NM_000456.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761
NM_000457.4(HNF4A):c.492+6G>A rs182980547
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000458.3(HNF1B):c.1045+12T>C rs141166864
NM_000465.3(BARD1):c.1028C>T (p.Thr343Ile) rs201032007
NM_000465.3(BARD1):c.1059C>G (p.Pro353=) rs368649242
NM_000465.3(BARD1):c.1347A>G (p.Gln449=) rs373257776
NM_000465.3(BARD1):c.144G>A (p.Leu48=) rs151168457
NM_000465.3(BARD1):c.1515G>T (p.Gly505=) rs139721211
NM_000465.3(BARD1):c.1877A>G (p.Asn626Ser) rs587781443
NM_000465.3(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.3(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.3(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.3(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.3(BARD1):c.253G>T (p.Val85Leu) rs370359540
NM_000465.3(BARD1):c.279A>G (p.Gln93=) rs370000575
NM_000465.3(BARD1):c.57G>A (p.Glu19=) rs730881406
NM_000465.3(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000465.3(BARD1):c.738A>G (p.Pro246=) rs587780859
NM_000465.3(BARD1):c.773T>C (p.Ile258Thr) rs146223579
NM_000465.3(BARD1):c.783A>G (p.Leu261=) rs201862973
NM_000465.3(BARD1):c.90T>A (p.Gly30=) rs150354152
NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr) rs587782555
NM_000466.2(PEX1):c.1671-7T>C rs74519968
NM_000466.2(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.2(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.2(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000475.4(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000478.5(ALPL):c.818C>T (p.Thr273Met) rs148405563
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.3(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000484.3(APP):c.592T>C (p.Ser198Pro) rs145081708
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.5(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.5(ARSA):c.624T>C (p.His208=) rs113990230
NM_000488.3(SERPINC1):c.678C>T (p.Thr226=) rs2227627
NM_000489.4(ATRX):c.4120+4A>C rs200420513
NM_000489.4(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000492.3(CFTR):c.-4G>C rs369326781
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4243-35delT rs193922527
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000503.5(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000506.4(F2):c.1233G>A (p.Pro411=) rs5898
NM_000506.4(F2):c.1602G>A (p.Pro534=) rs5900
NM_000507.3(FBP1):c.237C>T (p.Asn79=) rs201591116
NM_000507.3(FBP1):c.334-15T>C rs370920869
NM_000512.4(GALNS):c.*3C>G rs77826920
NM_000512.4(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.4(GALNS):c.318C>T (p.Asn106=) rs34278797
NM_000512.4(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.4(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000515.4(GH1):c.116C>T (p.Ala39Val) rs151263636
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys)
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000521.3(HEXB):c.1051T>C (p.Leu351=) rs114661695
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.843C>T (p.Leu281=) rs116392938
NM_000527.4(LDLR):c.*13A>G rs72658871
NM_000527.4(LDLR):c.-13A>G rs376011618
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1080T>G (p.Asp360Glu) rs749322464
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) rs141673997
NM_000527.4(LDLR):c.1586+16G>A rs114891301
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.447T>C (p.Gly149=) rs765386678
NM_000527.4(LDLR):c.48C>A (p.Leu16=) rs565675103
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.4(LDLR):c.694+25C>T rs199540175
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.817+9T>C rs375163928
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.940+9C>T rs17242906
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000528.3(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000532.4(PCCB):c.184-12G>T rs181283691
NM_000532.4(PCCB):c.763+10C>G rs180982841
NM_000535.5(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.6(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.6(PMS2):c.1199A>C (p.Gln400Pro) rs148069478
NM_000535.6(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.6(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.6(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.6(PMS2):c.1533G>A (p.Thr511=) rs542520309
NM_000535.6(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.6(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.6(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.6(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.6(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.6(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.6(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.6(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.6(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.6(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.6(PMS2):c.706-4delT rs60794673
NM_000535.6(PMS2):c.706-4dup rs60794673
NM_000535.6(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.6(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.6(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.779_780delCCinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000536.3(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.3(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.3(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.3(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000538.3(RFXAP):c.430G>A (p.Glu144Lys) rs201754085
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.11061_11063delGGA (p.Glu3689del) rs760784102
NM_000540.2(RYR1):c.1123-11C>T rs3745845
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12861_12869dupCACGGCGGC (p.Ala4290_Ala4291insThrAlaAla) rs398123469
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) rs774603798
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5671_5673delGAG (p.Glu1891del) rs559371263
NM_000540.2(RYR1):c.7737G>A (p.Val2579=) rs114975624
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8598C>T (p.Thr2866=) rs538250432
NM_000540.2(RYR1):c.9685+16C>T rs45496799
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634
NM_000541.4(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000543.4(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.4(SMPD1):c.138_143delGCTGGC (p.Ala48_Leu49del) rs3838786
NM_000543.4(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.4(SMPD1):c.1749G>A (p.Ser583=) rs35098198
NM_000543.4(SMPD1):c.441G>A (p.Val147=) rs148944108
NM_000543.4(SMPD1):c.813T>C (p.Pro271=) rs61876771
NM_000543.4(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000545.6(HNF1A):c.1310-12C>T rs193922579
NM_000545.6(HNF1A):c.1624-19G>A rs193922586
NM_000546.5(TP53):c.123T>C (p.Asp41=) rs369129220
NM_000546.5(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.5(TP53):c.145G>A (p.Asp49Asn) rs587780728
NM_000546.5(TP53):c.18A>C (p.Ser6=) rs573130482
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.217G>A (p.Val73Met) rs587782423
NM_000546.5(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_000546.5(TP53):c.248C>T (p.Ala83Val) rs201717599
NM_000546.5(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.5(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000546.5(TP53):c.993+13G>C rs369599972
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.1661C>T (p.Ser554Leu) rs45471596
NM_000548.3(TSC2):c.1839+6G>A rs45517204
NM_000548.3(TSC2):c.1911C>T (p.Val637=) rs543584836
NM_000548.3(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.3(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_000548.3(TSC2):c.4352G>A (p.Arg1451His) rs142848358
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.5068+9G>A rs45445593
NM_000548.3(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.3(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.4(TSC2):c.1066G>C (p.Val356Leu) rs587778728
NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.4(TSC2):c.1244C>T (p.Ala415Val) rs374936223
NM_000548.4(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.4(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.4(TSC2):c.148A>G (p.Met50Val) rs140618379
NM_000548.4(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.4(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
NM_000548.4(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.4(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.4(TSC2):c.17G>A (p.Ser6Asn) rs758239066
NM_000548.4(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.4(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.4(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.4(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.4(TSC2):c.1981G>A (p.Gly661Ser) rs137854168
NM_000548.4(TSC2):c.2018C>T (p.Ala673Val) rs745897413
NM_000548.4(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.4(TSC2):c.2097+13G>A rs367915255
NM_000548.4(TSC2):c.20A>G (p.Lys7Arg) rs137854215
NM_000548.4(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.4(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.4(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.4(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.4(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.4(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.4(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.4(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.4(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.4(TSC2):c.2926C>T (p.Arg976Trp) rs769527912
NM_000548.4(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.4(TSC2):c.2978C>T (p.Thr993Met) rs137854410
NM_000548.4(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.4(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.4(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.4(TSC2):c.3270C>T (p.Ser1090=) rs754951889
NM_000548.4(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300
NM_000548.4(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852
NM_000548.4(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938
NM_000548.4(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.4(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.4(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162
NM_000548.4(TSC2):c.3491C>T (p.Ala1164Val) rs45448801
NM_000548.4(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.4(TSC2):c.3610+6G>A rs45517301
NM_000548.4(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.4(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.4(TSC2):c.3768G>A (p.Pro1256=) rs201599540
NM_000548.4(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_000548.4(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.4(TSC2):c.3871G>A (p.Val1291Ile) rs201135184
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.4(TSC2):c.3958G>A (p.Val1320Ile) rs767495365
NM_000548.4(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.4(TSC2):c.3981C>G (p.Asp1327Glu) rs876659087
NM_000548.4(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.4(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.4(TSC2):c.4030_4032delGAG (p.Glu1344del) rs878854100
NM_000548.4(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.4(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734
NM_000548.4(TSC2):c.4077C>T (p.Ile1359=) rs150999168
NM_000548.4(TSC2):c.4086C>T (p.Val1362=) rs763847509
NM_000548.4(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.4(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510
NM_000548.4(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.4(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738
NM_000548.4(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.4(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.4(TSC2):c.4219G>A (p.Val1407Met) rs45517332
NM_000548.4(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.4(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.4(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970
NM_000548.4(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.4(TSC2):c.4469A>G (p.Glu1490Gly) rs759882146
NM_000548.4(TSC2):c.4493+7C>A rs199943270
NM_000548.4(TSC2):c.4510C>T (p.Leu1504Phe) rs747613240
NM_000548.4(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.4(TSC2):c.4849+13G>A rs780953278
NM_000548.4(TSC2):c.4849+4C>T rs370426490
NM_000548.4(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.4(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.4(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.4(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.4(TSC2):c.5068+8C>T rs747827911
NM_000548.4(TSC2):c.5161-4C>G rs45517406
NM_000548.4(TSC2):c.5262C>G (p.Ile1754Met) rs397515318
NM_000548.4(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064
NM_000548.4(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.4(TSC2):c.5368G>A (p.Val1790Met) rs200140994
NM_000548.4(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.4(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.4(TSC2):c.583A>G (p.Ile195Val) rs148325559
NM_000548.4(TSC2):c.619G>A (p.Val207Ile) rs139929314
NM_000548.4(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.4(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.4(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.4(TSC2):c.721G>A (p.Val241Ile) rs200943828
NM_000548.4(TSC2):c.775-4G>A rs754957491
NM_000548.4(TSC2):c.989C>T (p.Pro330Leu) rs140910086
NM_000550.2(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000552.4(VWF):c.7887+12T>C rs55687637
NM_000553.4(WRN):c.1530A>T (p.Glu510Asp) rs149565907
NM_000553.4(WRN):c.3422C>T (p.Ser1141Leu) rs139323683
NM_000553.4(WRN):c.3785C>G (p.Thr1262Arg) rs78488552
NM_000553.5(WRN):c.1149G>T (p.Leu383Phe) rs4987238
NM_000553.5(WRN):c.16T>C (p.Leu6=) rs202148988
NM_000553.5(WRN):c.1953C>T (p.Gly651=) rs11574263
NM_000553.5(WRN):c.2241T>G (p.Leu747=) rs2230011
NM_000553.5(WRN):c.2500C>T (p.Arg834Cys) rs3087425
NM_000553.5(WRN):c.2983G>A (p.Ala995Thr) rs140768346
NM_000553.5(WRN):c.355+4G>C rs145764920
NM_000553.5(WRN):c.95A>G (p.Lys32Arg) rs34477820
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845
NM_000601.5(HGF):c.1008G>A (p.Glu336=) rs148714837
NM_000639.2(FASLG):c.451+7A>G rs201525996
NM_000642.2(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.2(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.2(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.2(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.2(AGL):c.4162-11G>A rs184309460
NM_000642.2(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000666.2(ACY1):c.1178G>A (p.Arg393His) rs121912701
NM_000686.4(AGTR2):c.62G>T (p.Gly21Val) rs121917810
NM_000687.3(AHCY):c.28+7C>T rs201479827
NM_000702.3(ATP1A2):c.1092G>A (p.Thr364=) rs55741021
NM_000702.3(ATP1A2):c.1652-7C>A rs200102433
NM_000702.3(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403
NM_000702.3(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.3(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.3(ATP1A2):c.3034+6C>A rs574788908
NM_000702.3(ATP1A2):c.339C>T (p.Tyr113=) rs148929192
NM_000709.3(BCKDHA):c.288+10G>A rs376894084
NM_000709.3(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000719.6(CACNA1C):c.1065G>A (p.Thr355=) rs757055492
NM_000719.6(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.6(CACNA1C):c.1707A>G (p.Ala569=) rs375534041
NM_000719.6(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.6(CACNA1C):c.3049-10C>T rs186741807
NM_000719.6(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.6(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.6(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.6(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843
NM_000719.6(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.6(CACNA1C):c.4624-8G>A rs529345041
NM_000719.6(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.6(CACNA1C):c.4726+9G>A rs369267978
NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.6(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.6(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.6(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000720.3(CACNA1D):c.2058G>A (p.Leu686=) rs146747080
NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile) rs143326262
NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) rs143949187
NM_000733.3(CD3E):c.507C>T (p.Gly169=) rs2231447
NM_000742.3(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.3(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.3(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.3(CHRNA2):c.987C>T (p.Gly329=) rs147530139
NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.1560C>T (p.Leu520=) rs142646795
NM_000744.6(CHRNA4):c.1635G>A (p.Thr545=) rs121912283
NM_000744.6(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.6(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000747.2(CHRNB1):c.1044+9G>A rs143871421
NM_000747.2(CHRNB1):c.342G>A (p.Val114=) rs75019736
NM_000747.2(CHRNB1):c.821-9C>T rs76001008
NM_000747.2(CHRNB1):c.903C>T (p.Thr301=) rs117168441
NM_000748.2(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.2(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000751.2(CHRND):c.1400G>A (p.Arg467His) rs148939701
NM_000751.2(CHRND):c.1530C>T (p.Asn510=) rs114463490
NM_000751.2(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000784.3(CYP27A1):c.-6C>T rs199891090
NM_000784.3(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.3(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030
NM_000784.3(CYP27A1):c.792G>A (p.Val264=) rs144018609
NM_000787.3(DBH):c.1734C>T (p.Asn578=) rs45446891
NM_000806.5(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_000806.5(GABRA1):c.1350A>G (p.Lys450=) rs142385746
NM_000806.5(GABRA1):c.255+12C>T rs144727170
NM_000806.5(GABRA1):c.441G>T (p.Arg147=) rs190024862
NM_000806.5(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_000806.5(GABRA1):c.954C>T (p.Ala318=) rs551045474
NM_000814.5(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_000816.3(GABRG2):c.-4dupA rs771282908
NM_000816.3(GABRG2):c.107+12C>T rs369466385
NM_000816.3(GABRG2):c.243T>A (p.Leu81=) rs143295869
NM_000816.3(GABRG2):c.798T>C (p.Phe266=) rs115126975
NM_000816.3(GABRG2):c.922+6A>G rs375294947
NM_000823.3(GHRHR):c.741C>T (p.Leu247=) rs151019928
NM_000833.4(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_000833.4(GRIN2A):c.1410T>G (p.Thr470=) rs372058698
NM_000833.4(GRIN2A):c.1777+6G>T rs76549675
NM_000833.4(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_000833.4(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_000834.3(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137
NM_000834.3(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.-18-10G>C rs146841522
NM_000834.4(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748
NM_000834.4(GRIN2B):c.1851C>T (p.Ser617=) rs147373250
NM_000834.4(GRIN2B):c.2628G>A (p.Ala876=) rs199710029
NM_000834.4(GRIN2B):c.2703G>A (p.Leu901=) rs145005918
NM_000834.4(GRIN2B):c.291G>A (p.Val97=) rs202223470
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.3807A>T (p.Pro1269=) rs78765966
NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.4077C>T (p.Ala1359=) rs375217280
NM_000834.4(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262
NM_000834.4(GRIN2B):c.4230G>A (p.Thr1410=) rs149655315
NM_000875.4(IGF1R):c.*2426delA rs398028512
NM_000875.4(IGF1R):c.1950G>T (p.Arg650=) rs56294552
NM_000920.3(PC):c.1344G>A (p.Ala448=) rs148281644
NM_000920.3(PC):c.1513+13delA rs755170894
NM_000920.3(PC):c.1608G>A (p.Pro536=) rs139074169
NM_000920.3(PC):c.216G>A (p.Thr72=) rs117711892
NM_000920.3(PC):c.2550C>T (p.Cys850=) rs61749179
NM_000920.3(PC):c.2619C>T (p.Asn873=) rs2229745
NM_000920.3(PC):c.52C>A (p.Arg18=) rs144583275
NM_000925.3(PDHB):c.-26G>A rs201243189
NM_000925.3(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000941.2(POR):c.87G>A (p.Thr29=) rs41295381
NM_001001430.2(TNNT2):c.170-11A>G rs368658464
NM_001001430.2(TNNT2):c.170-4C>G rs397516448
NM_001001430.2(TNNT2):c.382-6_382-4delCCT rs397516462
NM_001001430.2(TNNT2):c.492C>T (p.Asn164=) rs483352833
NM_001001430.2(TNNT2):c.52+7G>A rs374443596
NM_001001430.2(TNNT2):c.690-6G>A rs113471285
NM_001001937.1(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003
NM_001002261.3(ZFYVE27):c.522G>A (p.Leu174=) rs143515214
NM_001002261.3(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
NM_001003787.3(STRADA):c.135G>A (p.Ala45=) rs56163554
NM_001003800.1(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001004334.3(GPR179):c.2022C>T (p.Asp674=) rs79623844
NM_001004334.3(GPR179):c.6824T>C (p.Leu2275Pro) rs148601715
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.235+12C>A rs147026993
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005741.2(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_001006657.1(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_001006657.1(WDR35):c.355C>T (p.Arg119Cys) rs140308808
NM_001006657.1(WDR35):c.770T>C (p.Val257Ala) rs142955097
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001007027.2(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_001007027.2(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_001008211.1(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008537.2(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807
NM_001008537.2(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459
NM_001008537.2(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001010892.2(RSPH4A):c.*8A>G rs575857124
NM_001010892.2(RSPH4A):c.-16_-12delTTCTTinsCACGCCCCTTTCATCCA rs727504884
NM_001010892.2(RSPH4A):c.144G>A (p.Gly48=) rs112350099
NM_001010892.2(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123
NM_001010892.2(RSPH4A):c.1731A>G (p.Lys577=) rs73765819
NM_001010892.2(RSPH4A):c.1917-4A>G rs201826366
NM_001010892.2(RSPH4A):c.731G>A (p.Arg244His) rs41289942
NM_001010892.2(RSPH4A):c.930C>T (p.Asn310=) rs180881714
NM_001012331.1(NTRK1):c.157G>C (p.Asp53His) rs200815412
NM_001012331.1(NTRK1):c.16C>T (p.Arg6Trp) rs201472270
NM_001012331.1(NTRK1):c.1710C>T (p.Phe570=) rs6335
NM_001012331.1(NTRK1):c.212+10C>T rs183517027
NM_001012331.1(NTRK1):c.428+12C>A rs41267425
NM_001014763.1(ETFB):c.278dupC (p.Pro94Thrfs) rs74357706
NM_001017420.2(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434
NM_001017420.2(ESCO2):c.147C>G (p.Cys49Trp) rs201989984
NM_001017420.2(ESCO2):c.1647T>C (p.Ile549=) rs73568217
NM_001018005.1(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.1(TPM1):c.564-11G>A rs532254032
NM_001018113.2(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.2(FANCB):c.1658C>T (p.Thr553Met) rs146157131
NM_001018113.2(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.2(FANCB):c.1996G>A (p.Gly666Ser) rs145110602
NM_001018113.2(FANCB):c.989T>C (p.Ile330Thr) rs200161949
NM_001018115.2(FANCD2):c.1336C>G (p.Leu446Val) rs34557223
NM_001023570.3(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837
NM_001023570.3(IQCB1):c.394-15_394-10dupATCTTT rs768572151
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001024847.2(TGFBR2):c.539C>T (p.Thr180Ile) rs727504406
NM_001029883.2(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001031717.3(CRELD1):c.320G>A (p.Arg107His) rs28941780
NM_001031726.3(C19orf12):c.102G>A (p.Ala34=) rs201118405
NM_001031726.3(C19orf12):c.249G>A (p.Pro83=) rs202054484
NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) rs146170087
NM_001031737.2(CCDC78):c.384G>T (p.Glu128Asp) rs145274257
NM_001031737.2(CCDC78):c.966C>A (p.Asn322Lys) rs148595483
NM_001031835.2(PHKB):c.1106-14A>G rs185628131
NM_001031835.2(PHKB):c.2223C>G (p.Leu741=) rs34717357
NM_001031835.2(PHKB):c.534G>T (p.Met178Ile) rs56257827
NM_001033855.2(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001034850.2(RETREG1):c.1089T>C (p.Asp363=) rs200156015
NM_001035.2(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.2(RYR2):c.10231-4T>C rs117180147
NM_001035.2(RYR2):c.10231-5C>T rs186326951
NM_001035.2(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.2(RYR2):c.11246-11delA rs397516503
NM_001035.2(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.2(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.2(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.2(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.2(RYR2):c.14101A>G (p.Ile4701Val) rs755065507
NM_001035.2(RYR2):c.1822C>T (p.His608Tyr) rs727504718
NM_001035.2(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.2(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.2(RYR2):c.2643A>C (p.Ile881=) rs751869107
NM_001035.2(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.2(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.2(RYR2):c.3180C>T (p.Tyr1060=) rs398123540
NM_001035.2(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.2(RYR2):c.3537T>C (p.Gly1179=) rs397516526
NM_001035.2(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.2(RYR2):c.4044G>A (p.Lys1348=) rs755391572
NM_001035.2(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.2(RYR2):c.4695T>C (p.Pro1565=) rs368826662
NM_001035.2(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.2(RYR2):c.5373C>A (p.Thr1791=) rs765283048
NM_001035.2(RYR2):c.5571G>A (p.Pro1857=) rs371934582
NM_001035.2(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.2(RYR2):c.615C>T (p.Ala205=) rs112680790
NM_001035.2(RYR2):c.6689-12T>C rs370972311
NM_001035.2(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.2(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.2(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.2(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.2(RYR2):c.8831-9A>C rs187977513
NM_001035.2(RYR2):c.9435T>C (p.Ser3145=) rs774657844
NM_001035.2(RYR2):c.9450-3T>C rs188671846
NM_001035.2(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001037.4(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.4(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.4(SCN1B):c.448+112G>A rs72558026
NM_001037.4(SCN1B):c.448+193G>A rs66876876
NM_001037.4(SCN1B):c.561C>T (p.Ala187=) rs587781152
NM_001038603.2(MARVELD2):c.1248A>C (p.Thr416=) rs146746360
NM_001038603.2(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607
NM_001039141.2(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032
NM_001039141.2(TRIOBP):c.6472+14G>T rs45503898
NM_001039141.2(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039523.2(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039891.2(ZNF674):c.601C>T (p.Arg201Ter) rs182004761
NM_001039891.2(ZNF674):c.707A>G (p.Lys236Arg) rs201621696
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319
NM_001040108.1(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001040108.1(MLH3):c.1870G>C (p.Glu624Gln) rs28756986
NM_001040108.1(MLH3):c.2167G>A (p.Val723Ile) rs28756989
NM_001040108.1(MLH3):c.2490T>G (p.Phe830Leu) rs114015611
NM_001040108.1(MLH3):c.2838C>A (p.Ser946=) rs181990057
NM_001040108.1(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011
NM_001040108.1(MLH3):c.3784C>T (p.Pro1262Ser) rs372912259
NM_001040108.1(MLH3):c.408T>C (p.Asp136=) rs61755655
NM_001040108.1(MLH3):c.429G>A (p.Gly143=) rs138943686
NM_001040108.1(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071
NM_001040108.1(MLH3):c.837C>T (p.Cys279=) rs149962294
NM_001040113.1(MYH11):c.1892G>A (p.Arg631His) rs201991156
NM_001040113.1(MYH11):c.2070C>T (p.His690=) rs150924100
NM_001040113.1(MYH11):c.3672+5_3672+11delTGCTTTTinsG rs371843272
NM_001040113.1(MYH11):c.5357C>T (p.Thr1786Met) rs201960644
NM_001040113.1(MYH11):c.5717A>G (p.Asn1906Ser) rs79129097
NM_001040113.1(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.1(MYH11):c.5819dupC (p.Gln1941Thrfs) rs747392139
NM_001040436.2(YARS2):c.104C>A (p.Ala35Asp) rs149447502
NM_001040436.2(YARS2):c.456G>A (p.Ala152=) rs201940521
NM_001040436.2(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040616.2(LINS1):c.2119G>A (p.Gly707Arg) rs74039425
NM_001040616.2(LINS1):c.718C>T (p.Arg240Trp) rs145145735
NM_001042351.2(G6PD):c.1288-10_1288-9delTC rs199586268
NM_001042432.1(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.1(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_001042432.1(CLN3):c.677+8G>A rs368568189
NM_001042432.1(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_001042432.1(CLN3):c.831G>A (p.Val277=) rs1142183
NM_001042472.2(ABHD12):c.202G>A (p.Val68Met) rs11904930
NM_001042492.2(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.2(NF1):c.1976G>A (p.Arg659Gln) rs151138158
NM_001042492.2(NF1):c.3198-4T>C rs587782218
NM_001042492.2(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_001042492.2(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042492.2(NF1):c.6379A>G (p.Ile2127Val) rs200022550
NM_001042492.2(NF1):c.7190-19_7190-8delGTTTGTTTGTTT rs149197458
NM_001042492.2(NF1):c.7554C>G (p.Ala2518=) rs141897690
NM_001042492.2(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_001042492.2(NF1):c.8499T>C (p.Asn2833=) rs142636150
NM_001042702.3(PJVK):c.*2A>C rs200811582
NM_001042702.3(PJVK):c.766+8T>C rs185220846
NM_001042702.3(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001044385.2(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.2(TMEM237):c.75-13T>C rs116829037
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001077416.2(TMEM231):c.1050G>A (p.Val350=) rs149888762
NM_001079.3(ZAP70):c.1082+8C>T rs55933862
NM_001079.3(ZAP70):c.447G>A (p.Val149=) rs61735392
NM_001079802.1(FKTN):c.*4825T>C rs115155934
NM_001079802.1(FKTN):c.-90delA rs727502845
NM_001079802.1(FKTN):c.-96T>C rs151250905
NM_001079802.1(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.1(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.1(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602
NM_001080114.1(LDB3):c.546T>C (p.Ser182=) rs71473272
NM_001080116.1(LDB3):c.306G>A (p.Val102=) rs201715521
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080463.1(DYNC2H1):c.10866G>A (p.Pro3622=) rs187451323
NM_001080463.1(DYNC2H1):c.11259C>T (p.Ser3753=) rs78599571
NM_001080463.1(DYNC2H1):c.11724C>T (p.Asn3908=) rs144624858
NM_001080463.1(DYNC2H1):c.12028G>A (p.Ala4010Thr) rs61737514
NM_001080463.1(DYNC2H1):c.12275G>A (p.Arg4092His) rs115480556
NM_001080463.1(DYNC2H1):c.12886G>C (p.Gly4296Arg) rs144717489
NM_001080463.1(DYNC2H1):c.195+7T>C rs112718117
NM_001080463.1(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001080463.1(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062
NM_001080463.1(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001080463.1(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001080463.1(DYNC2H1):c.9960T>C (p.Ala3320=) rs192003811
NM_001080522.2(CC2D2A):c.-32G>A rs183968785
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001082538.2(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.2(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001083116.1(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083116.2(PRF1):c.462A>G (p.Ala154=) rs116554195
NM_001083116.2(PRF1):c.630C>T (p.Pro210=) rs144004164
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375
NM_001083614.1(EARS2):c.1317G>A (p.Ser439=) rs74014932
NM_001083614.1(EARS2):c.263_264delCGinsAA (p.Ala88Glu) rs1555504721
NM_001083961.1(WDR62):c.*5G>A rs61740165
NM_001083961.1(WDR62):c.1642+8C>T rs143309981
NM_001083961.1(WDR62):c.2281C>T (p.His761Tyr) rs61744321
NM_001083961.1(WDR62):c.269+12delA rs797046108
NM_001083961.1(WDR62):c.3231C>T (p.Pro1077=) rs187029707
NM_001083961.1(WDR62):c.3674G>A (p.Arg1225His) rs61743589
NM_001083961.1(WDR62):c.3812C>T (p.Ala1271Val) rs111294536
NM_001083961.1(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.1(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503
NM_001083961.1(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001083961.2(WDR62):c.1233+15dup rs373693641
NM_001083962.1(TCF4):c.504A>G (p.Val168=) rs370160994
NM_001083962.1(TCF4):c.790-9T>C rs373434281
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001099404.1(SCN5A):c.3954G>A (p.Glu1318=) rs769473892
NM_001099922.2(ALG13):c.2573A>G (p.Asn858Ser) rs756238772
NM_001100112.1(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658
NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) rs568675071
NM_001101426.3(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.3(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516
NM_001101426.3(CRPPA):c.346C>T (p.Arg116Cys) rs61744487
NM_001101426.3(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.3(CRPPA):c.79A>C (p.Thr27Pro) rs558064127
NM_001101426.3(CRPPA):c.836-9dupT rs3839757
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001106.3(ACVR2B):c.1452G>A (p.Ser484=) rs56280856
NM_001109809.2(ZFP57):c.1086T>C (p.Thr362=) rs61730326
NM_001110556.1(FLNA):c.1429+8C>T rs202181557
NM_001110556.1(FLNA):c.2023-4C>G rs368719012
NM_001110556.1(FLNA):c.2023-6C>T rs372021340
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001111.5(ADAR):c.2079+8G>A rs376867928
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001111035.2(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001111125.2(IQSEC2):c.1926G>A (p.Pro642=) rs782748026
NM_001111125.2(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118
NM_001111125.2(IQSEC2):c.684C>T (p.Ser228=) rs781940286
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001114636.1(FANCL):c.-39A>G rs41281511
NM_001114636.1(FANCL):c.1111_1114dupATTA (p.Thr372Asnfs) rs759217526
NM_001114636.1(FANCL):c.791-10dupT rs374236117
NM_001126106.2(SLC7A7):c.720A>C (p.Ser240=) rs151261004
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1626G>A (p.Gly542=) rs375628894
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2870G>T (p.Arg957Leu) rs551380805
NM_001127221.1(CACNA1A):c.2983_2988dupGAGGGC (p.Gly996_Pro997insGluGly) rs764399373
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.3169C>T (p.Arg1057Cys) rs187393245
NM_001127221.1(CACNA1A):c.3312C>T (p.Pro1104=) rs374749004
NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) rs201230929
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.5136+10G>A rs369033909
NM_001127221.1(CACNA1A):c.5655C>T (p.Val1885=) rs17846921
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.6657_6659dupCCA (p.His2220_Pro2221insHis) rs759331923
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220_Pro2221insHis) rs768950814
NM_001127464.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633
NM_001127464.2(ZNF469):c.10242G>C (p.Arg3414Ser) rs56236932
NM_001127464.2(ZNF469):c.10277G>A (p.Arg3426Gln) rs75288466
NM_001127464.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993
NM_001127464.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442
NM_001127464.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001127500.2(MET):c.1715G>A (p.Ser572Asn) rs199771406
NM_001127500.2(MET):c.1932C>T (p.His644=) rs45520237
NM_001127500.2(MET):c.2638-7del rs587780736
NM_001127500.2(MET):c.789G>A (p.Thr263=) rs554190225
NM_001127500.2(MET):c.959C>T (p.Ala320Val) rs35776110
NM_001127608.2(FAM189A2):c.704-5delA rs193921010
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208
NM_001128425.1(MUTYH):c.-127C>T rs3219466
NM_001128425.1(MUTYH):c.1014G>T (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1118C>T (p.Ala373Val) rs35352891
NM_001128425.1(MUTYH):c.1186+9A>T rs587780742
NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) rs144079536
NM_001128425.1(MUTYH):c.1431G>C (p.Thr477=) rs74318065
NM_001128425.1(MUTYH):c.1547C>T (p.Pro516Leu) rs587778542
NM_001128425.1(MUTYH):c.1548G>A (p.Pro516=) rs143796254
NM_001128425.1(MUTYH):c.158-12C>T rs367908623
NM_001128425.1(MUTYH):c.348+11G>A rs139977567
NM_001128425.1(MUTYH):c.36+11C>T rs2275602
NM_001128425.1(MUTYH):c.42C>T (p.Ile14=) rs202240122
NM_001128425.1(MUTYH):c.505-4A>G rs201678305
NM_001128425.1(MUTYH):c.53C>T (p.Pro18Leu) rs79777494
NM_001128425.1(MUTYH):c.696C>T (p.Thr232=) rs780747266
NM_001128425.1(MUTYH):c.74G>A (p.Gly25Asp) rs75321043
NM_001128425.1(MUTYH):c.813C>T (p.Asp271=) rs730881838
NM_001128425.1(MUTYH):c.925C>T (p.Arg309Cys) rs138089183
NM_001128425.1(MUTYH):c.998-9C>T rs3219488
NM_001128849.1(SMARCA4):c.1099C>T (p.Leu367=) rs372379166
NM_001128849.1(SMARCA4):c.2617-4G>A rs201020451
NM_001128849.1(SMARCA4):c.2967C>T (p.Pro989=) rs149874634
NM_001128849.1(SMARCA4):c.2974-4G>A rs766593089
NM_001128849.1(SMARCA4):c.3383-5G>A rs762528243
NM_001128849.1(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534
NM_001128849.1(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_001130067.1(TRIM2):c.996C>T (p.Gly332=) rs116558260
NM_001130089.1(KARS):c.696A>G (p.Thr232=) rs141539149
NM_001130438.2(SPTAN1):c.1807-11T>C rs139049596
NM_001130438.2(SPTAN1):c.2011+10G>A rs377437879
NM_001130438.2(SPTAN1):c.237+4C>T rs371350283
NM_001130438.2(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.2(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.2(SPTAN1):c.4046+4C>T rs370704701
NM_001130438.2(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.2(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.2(SPTAN1):c.5149-10C>T rs587784437
NM_001130438.2(SPTAN1):c.5478+12G>A rs41275900
NM_001130438.2(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725
NM_001130438.2(SPTAN1):c.6159C>T (p.His2053=) rs150902677
NM_001130438.2(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.7161-8G>A rs202180736
NM_001130438.2(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.2(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130823.2(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001131025.1(PEX5):c.1632G>A (p.Ala544=) rs115338343
NM_001134363.2(RBM20):c.1093G>A (p.Gly365Arg) rs201047984
NM_001134363.2(RBM20):c.1179C>T (p.Pro393=) rs200588338
NM_001134363.2(RBM20):c.128_130dupAGC (p.Gln43_Pro44insGln) rs397516593
NM_001134363.2(RBM20):c.1338-11G>A rs372064165
NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.2(RBM20):c.1922G>A (p.Arg641Gln) rs143785916
NM_001134363.2(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.2(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.2(RBM20):c.2655+15A>G rs187915202
NM_001134363.2(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134363.2(RBM20):c.3452-10C>T rs60618533
NM_001134363.2(RBM20):c.448G>A (p.Ala150Thr) rs199868951
NM_001134363.2(RBM20):c.530C>T (p.Thr177Ile) rs183130427
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001135244.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001135599.3(TGFB2):c.594+38_594+43dup rs10482769
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135659.2(NRXN1):c.-34C>A rs200335720
NM_001135659.2(NRXN1):c.-922+7A>C rs200115353
NM_001135659.2(NRXN1):c.105C>A (p.Gly35=) rs55640811
NM_001135659.2(NRXN1):c.1446A>C (p.Val482=) rs201485014
NM_001135659.2(NRXN1):c.1485T>C (p.Leu495=) rs201727684
NM_001135659.2(NRXN1):c.1695A>G (p.Arg565=) rs201941844
NM_001135659.2(NRXN1):c.2157G>A (p.Pro719=) rs199714221
NM_001135659.2(NRXN1):c.222C>T (p.Gly74=) rs201592993
NM_001135659.2(NRXN1):c.2505C>G (p.Pro835=) rs147984237
NM_001135659.2(NRXN1):c.2541C>T (p.Asn847=) rs115211871
NM_001135659.2(NRXN1):c.2725C>A (p.Leu909Met) rs201818223
NM_001135659.2(NRXN1):c.2850G>A (p.Lys950=) rs192909520
NM_001135659.2(NRXN1):c.2892C>T (p.Tyr964=) rs200182626
NM_001135659.2(NRXN1):c.3165C>T (p.Ala1055=) rs56402642
NM_001135659.2(NRXN1):c.3210A>C (p.Gly1070=) rs201886024
NM_001135659.2(NRXN1):c.3249A>G (p.Val1083=) rs200698497
NM_001135659.2(NRXN1):c.3321C>T (p.Ser1107=) rs75275592
NM_001135659.2(NRXN1):c.3369C>T (p.Pro1123=) rs116236999
NM_001135659.2(NRXN1):c.4356C>T (p.Gly1452=) rs587781101
NM_001135659.2(NRXN1):c.4374A>G (p.Pro1458=) rs55923848
NM_001135659.2(NRXN1):c.4395G>T (p.Arg1465=) rs143495349
NM_001135659.2(NRXN1):c.4512T>C (p.His1504=) rs112536447
NM_001135659.2(NRXN1):c.4593G>A (p.Ala1531=) rs113380721
NM_001135659.2(NRXN1):c.498G>A (p.Ala166=) rs201212909
NM_001135659.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001135659.2(NRXN1):c.981C>T (p.Tyr327=) rs200464704
NM_001142386.2(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) rs111033362
NM_001142771.1(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142800.1(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.1(EYS):c.4093A>G (p.Lys1365Glu) rs16895519
NM_001142800.1(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.1(EYS):c.9030A>G (p.Ala3010=) rs61754905
NM_001142800.1(EYS):c.9345_9347delTGT (p.Val3116del) rs536788112
NM_001143979.1(NDE1):c.948-9103C>T rs202120792
NM_001144996.1(ITGA7):c.1011-4A>G rs370741662
NM_001145308.4(LRTOMT):c.-149C>T rs145851613
NM_001145308.4(LRTOMT):c.-52G>C rs149637884
NM_001145809.1(MYH14):c.5227C>T (p.Leu1743=) rs147447646
NM_001146077.1(CLDN14):c.*10G>C rs139628442
NM_001148.4(ANK2):c.-39G>T rs372870729
NM_001148.4(ANK2):c.10371G>A (p.Thr3457=) rs142908806
NM_001148.4(ANK2):c.10395G>A (p.Glu3465=) rs147423696
NM_001148.4(ANK2):c.11538C>T (p.Leu3846=) rs45602336
NM_001148.4(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.4(ANK2):c.1401A>G (p.Ala467=) rs142159132
NM_001148.4(ANK2):c.1773T>C (p.Ser591=) rs374775005
NM_001148.4(ANK2):c.1899A>G (p.Leu633=) rs377608305
NM_001148.4(ANK2):c.198C>T (p.Asn66=) rs146964054
NM_001148.4(ANK2):c.2060A>G (p.Asn687Ser) rs29372
NM_001148.4(ANK2):c.2249A>G (p.Gln750Arg) rs371787039
NM_001148.4(ANK2):c.2277+9C>T rs141965666
NM_001148.4(ANK2):c.2592T>C (p.Pro864=) rs138641014
NM_001148.4(ANK2):c.4152T>C (p.Asp1384=) rs116128106
NM_001148.4(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198
NM_001148.4(ANK2):c.6648C>G (p.Gly2216=) rs140926982
NM_001148.4(ANK2):c.670-10A>G rs374372032
NM_001148.4(ANK2):c.7488A>G (p.Thr2496=) rs143161930
NM_001148.4(ANK2):c.7902G>A (p.Val2634=) rs150878494
NM_001148.4(ANK2):c.7932G>A (p.Glu2644=) rs201645638
NM_001148.4(ANK2):c.8673C>T (p.Pro2891=) rs374884110
NM_001148.4(ANK2):c.9279C>G (p.Thr3093=) rs148851013
NM_001148.4(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934
NM_001148.4(ANK2):c.962G>A (p.Arg321Gln) rs150226540
NM_001148.4(ANK2):c.997C>T (p.Leu333=) rs201024064
NM_001163771.1(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_001164277.1(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) rs201036248
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001165928.3(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_001165963.1(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.1(SCN1A):c.1410C>T (p.Ser470=) rs142571794
NM_001165963.1(SCN1A):c.2044-5dupT rs549232924
NM_001165963.1(SCN1A):c.333A>G (p.Leu111=) rs201592683
NM_001165963.1(SCN1A):c.3705+10delA rs570862962
NM_001165963.1(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.1(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.1(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.1(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.1(SCN1A):c.5346C>T (p.Ile1782=) rs121918763
NM_001165963.1(SCN1A):c.579C>T (p.Leu193=) rs116478064
NM_001165963.1(SCN1A):c.694+10A>G rs373417440
NM_001166110.1(PALLD):c.415C>T (p.Pro139Ser) rs121908291
NM_001166111.1(PNPLA6):c.2389G>A (p.Val797Met) rs145988230
NM_001167.3(XIAP):c.*5180dupA rs60841987
NM_001167734.1(VARS2):c.513G>A (p.Met171Ile) rs141408930
NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) rs61757108
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852
NM_001170629.1(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274
NM_001171610.1(LDB3):c.466G>A (p.Ala156Thr) rs200596619
NM_001172574.1(MCPH1):c.23-15A>G rs146351889
NM_001172696.1(TSFM):c.361-12T>G rs368313488
NM_001173467.2(SP7):c.-47-15dupC rs886049660
NM_001173467.2(SP7):c.864G>A (p.Leu288=) rs113295055
NM_001173991.2(TMEM216):c.-24C>G rs59493015
NM_001173991.2(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001174051.2(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350
NM_001182.4(ALDH7A1):c.-29T>C rs556650006
NM_001182.4(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850
NM_001182.4(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.4(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001182.4(ALDH7A1):c.615C>T (p.Asn205=) rs369380330
NM_001184.3(ATR):c.4153-10dupT rs112116713
NM_001184880.1(PCDH19):c.1209C>T (p.Ser403=) rs372006606
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001190836.1(DCTN1):c.3620C>T (p.Thr1207Ile) rs72466496
NM_001193466.1(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.1(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.1(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_001193466.1(KANSL1):c.2725-7A>G rs186818985
NM_001193536.1(DOCK8):c.3815A>G (p.Tyr1272Cys) rs116920018
NM_001195.4(BFSP1):c.1995_1996delTT (p.Ter666Lysfs) rs548358901
NM_001195794.1(CLRN1):c.9C>A (p.Ser3Arg) rs187218889
NM_001199107.1(TBC1D24):c.-7C>T rs199852092
NM_001199107.1(TBC1D24):c.1002C>T (p.Ala334=) rs184389316
NM_001199107.1(TBC1D24):c.1074C>T (p.Pro358=) rs75961715
NM_001199107.1(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477
NM_001199107.1(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869
NM_001199107.1(TBC1D24):c.1473C>G (p.Pro491=) rs370427146
NM_001199107.1(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.1(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.1(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225
NM_001199107.1(TBC1D24):c.951C>T (p.Thr317=) rs766745103
NM_001199282.2(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_001199917.1(PGM3):c.605G>T (p.Arg202Leu) rs73749732
NM_001201397.1(EDNRB):c.245G>A (p.Arg82Gln) rs2070591
NM_001204824.1(KCNQ3):c.1575A>G (p.Gln525=) rs587781011
NM_001204824.1(KCNQ3):c.594C>A (p.Gly198=) rs143224896
NM_001228.4(CASP8):c.394T>C (p.Leu132=) rs11897628
NM_001228.4(CASP8):c.435C>T (p.Ser145=) rs17860422
NM_001232.3(CASQ2):c.-21G>A rs12067472
NM_001232.3(CASQ2):c.1185_1187delCGA (p.Asp398del) rs397516641
NM_001232.3(CASQ2):c.198G>A (p.Thr66=) rs74114618
NM_001232.3(CASQ2):c.270C>A (p.Gly90=) rs72554056
NM_001232.3(CASQ2):c.421-14G>A rs139281637
NM_001232.3(CASQ2):c.421-15C>G rs199939582
NM_001232.3(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001235.3(SERPINH1):c.267G>A (p.Thr89=) rs139127426
NM_001235.3(SERPINH1):c.721+9T>C rs138193444
NM_001235.3(SERPINH1):c.744C>T (p.Asp248=) rs61733248
NM_001242896.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242896.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242896.2(DEPDC5):c.2286C>T (p.Asp762=) rs200465447
NM_001242957.2(MAK):c.1715T>C (p.Ile572Thr) rs79544660
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001243766.1(POMGNT1):c.120+13C>T rs12737140
NM_001243766.1(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_001256006.1(SYT14):c.561_563delAGA (p.Glu187del) rs2307890
NM_001256317.1(TMPRSS3):c.212T>C (p.Phe71Ser) rs185332310
NM_001256714.1(DNAAF3):c.1364+10G>T rs200324983
NM_001256714.1(DNAAF3):c.147C>T (p.Thr49=) rs150362958
NM_001256714.1(DNAAF3):c.527-4delG rs201986299
NM_001256849.1(POLD1):c.2275G>A (p.Val759Ile) rs145473716
NM_001256850.1(TTN):c.100204C>T (p.Arg33402Cys) rs200378865
NM_001256850.1(TTN):c.101655T>A (p.Ser33885=) rs55838839
NM_001256850.1(TTN):c.10188A>G (p.Glu3396=) rs183336802
NM_001256850.1(TTN):c.10360+5340C>T rs148105798
NM_001256850.1(TTN):c.10555G>A (p.Val3519Met) rs397517825
NM_001256850.1(TTN):c.11283C>G (p.Thr3761=) rs192857526
NM_001256850.1(TTN):c.11356T>C (p.Leu3786=) rs587780988
NM_001256850.1(TTN):c.1137A>G (p.Arg379=) rs55972547
NM_001256850.1(TTN):c.13473G>C (p.Val4491=) rs374479775
NM_001256850.1(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001256850.1(TTN):c.16592G>A (p.Gly5531Glu) rs185962498
NM_001256850.1(TTN):c.16977G>A (p.Leu5659=) rs373963067
NM_001256850.1(TTN):c.17038G>A (p.Ala5680Thr) rs72648946
NM_001256850.1(TTN):c.17428T>G (p.Cys5810Gly) rs370812788
NM_001256850.1(TTN):c.1743G>A (p.Pro581=) rs138560523
NM_001256850.1(TTN):c.17456G>A (p.Arg5819Gln) rs117551279
NM_001256850.1(TTN):c.18010A>G (p.Ile6004Val) rs145204073
NM_001256850.1(TTN):c.1938+10G>C rs190935632
NM_001256850.1(TTN):c.20246A>G (p.Lys6749Arg) rs553548392
NM_001256850.1(TTN):c.20325C>T (p.Thr6775=) rs372264428
NM_001256850.1(TTN):c.20849G>A (p.Gly6950Asp) rs375627540
NM_001256850.1(TTN):c.22017C>T (p.Asn7339=) rs201904848
NM_001256850.1(TTN):c.22072G>T (p.Asp7358Tyr) rs552951988
NM_001256850.1(TTN):c.23199C>T (p.Ser7733=) rs185062935
NM_001256850.1(TTN):c.24618C>T (p.Ala8206=) rs375022009
NM_001256850.1(TTN):c.25721A>G (p.Asn8574Ser) rs146057575
NM_001256850.1(TTN):c.25731G>A (p.Pro8577=) rs142812510
NM_001256850.1(TTN):c.27219C>T (p.Leu9073=) rs149910892
NM_001256850.1(TTN):c.27596G>A (p.Arg9199His) rs374156904
NM_001256850.1(TTN):c.29012-13A>G rs72650008
NM_001256850.1(TTN):c.29273-8T>G rs72650010
NM_001256850.1(TTN):c.29358T>C (p.Phe9786=) rs762141482
NM_001256850.1(TTN):c.29560+3G>A rs563582627
NM_001256850.1(TTN):c.296-14T>C rs199951296
NM_001256850.1(TTN):c.31642G>C (p.Val10548Leu) rs150733188
NM_001256850.1(TTN):c.32389+5A>C rs373367032
NM_001256850.1(TTN):c.32876-8C>T rs371318311
NM_001256850.1(TTN):c.33199_33219del21 (p.Val11067_Glu11073del) rs587780487
NM_001256850.1(TTN):c.34607-14T>C rs200916144
NM_001256850.1(TTN):c.34690+6C>T rs187365142
NM_001256850.1(TTN):c.37764C>T (p.Ala12588=) rs775889693
NM_001256850.1(TTN):c.38337C>T (p.Phe12779=) rs372382546
NM_001256850.1(TTN):c.39231+6G>T rs794729234
NM_001256850.1(TTN):c.39666G>A (p.Thr13222=) rs369800903
NM_001256850.1(TTN):c.40350C>T (p.Asn13450=) rs72677223
NM_001256850.1(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001256850.1(TTN):c.4359A>T (p.Arg1453Ser) rs376857956
NM_001256850.1(TTN):c.43701T>C (p.Pro14567=) rs72677240
NM_001256850.1(TTN):c.44109G>A (p.Val14703=) rs587780980
NM_001256850.1(TTN):c.44249G>A (p.Arg14750Gln) rs200944827
NM_001256850.1(TTN):c.44355T>C (p.Ala14785=) rs372633280
NM_001256850.1(TTN):c.45440T>C (p.Ile15147Thr) rs397517599
NM_001256850.1(TTN):c.45796A>G (p.Ile15266Val) rs750610895
NM_001256850.1(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001256850.1(TTN):c.47486C>A (p.Pro15829Gln) rs372618781
NM_001256850.1(TTN):c.47967C>T (p.Thr15989=) rs374228930
NM_001256850.1(TTN):c.48303T>C (p.Tyr16101=) rs202200861
NM_001256850.1(TTN):c.48337T>C (p.Phe16113Leu) rs397517612
NM_001256850.1(TTN):c.49225C>T (p.Arg16409Cys) rs55734111
NM_001256850.1(TTN):c.49284A>G (p.Pro16428=) rs372686070
NM_001256850.1(TTN):c.49398A>G (p.Ala16466=) rs368021072
NM_001256850.1(TTN):c.50886G>A (p.Pro16962=) rs750472100
NM_001256850.1(TTN):c.53503G>A (p.Val17835Ile) rs397517636
NM_001256850.1(TTN):c.54359A>G (p.Asn18120Ser) rs563969986
NM_001256850.1(TTN):c.54393G>A (p.Pro18131=) rs377180286
NM_001256850.1(TTN):c.55898C>T (p.Pro18633Leu) rs72646845
NM_001256850.1(TTN):c.56215C>A (p.Leu18739Met) rs201167216
NM_001256850.1(TTN):c.59839G>A (p.Gly19947Arg) rs181717727
NM_001256850.1(TTN):c.60353-8T>C rs377484398
NM_001256850.1(TTN):c.60611C>T (p.Pro20204Leu) rs201662134
NM_001256850.1(TTN):c.61200A>G (p.Pro20400=) rs727504190
NM_001256850.1(TTN):c.61769G>A (p.Arg20590His) rs200971254
NM_001256850.1(TTN):c.63159C>T (p.Cys21053=) rs79406408
NM_001256850.1(TTN):c.64207C>T (p.Pro21403Ser) rs55980498
NM_001256850.1(TTN):c.64898G>A (p.Gly21633Asp) rs201043950
NM_001256850.1(TTN):c.65327T>C (p.Ile21776Thr) rs201836227
NM_001256850.1(TTN):c.65568C>T (p.Thr21856=) rs372382315
NM_001256850.1(TTN):c.67664G>A (p.Arg22555His) rs200317412
NM_001256850.1(TTN):c.6790+12C>T rs200187117
NM_001256850.1(TTN):c.687T>C (p.Phe229=) rs376527094
NM_001256850.1(TTN):c.68902G>C (p.Glu22968Gln) rs55762754
NM_001256850.1(TTN):c.69972A>C (p.Gln23324His) rs201512527
NM_001256850.1(TTN):c.70111C>T (p.Arg23371Trp) rs368914555
NM_001256850.1(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001256850.1(TTN):c.71999G>A (p.Arg24000His) rs369707906
NM_001256850.1(TTN):c.72120T>C (p.Tyr24040=) rs370810609
NM_001256850.1(TTN):c.72129C>T (p.Gly24043=) rs372543652
NM_001256850.1(TTN):c.77015G>A (p.Gly25672Glu) rs199670463
NM_001256850.1(TTN):c.77180A>G (p.Asp25727Gly) rs145373396
NM_001256850.1(TTN):c.77566G>A (p.Gly25856Arg) rs201158906
NM_001256850.1(TTN):c.78210G>A (p.Lys26070=) rs369223412
NM_001256850.1(TTN):c.80325A>T (p.Thr26775=) rs187180708
NM_001256850.1(TTN):c.80483C>G (p.Ser26828Cys) rs202040332
NM_001256850.1(TTN):c.8069C>T (p.Thr2690Ile) rs374620001
NM_001256850.1(TTN):c.81129T>C (p.Thr27043=) rs76928874
NM_001256850.1(TTN):c.81194G>A (p.Arg27065Gln) rs199788826
NM_001256850.1(TTN):c.82188G>A (p.Glu27396=) rs374902148
NM_001256850.1(TTN):c.82848C>A (p.Gly27616=) rs72648230
NM_001256850.1(TTN):c.85066T>A (p.Leu28356Met) rs369855092
NM_001256850.1(TTN):c.86634T>C (p.Asp28878=) rs202185465
NM_001256850.1(TTN):c.86720C>T (p.Ala28907Val) rs553668520
NM_001256850.1(TTN):c.87318T>C (p.Gly29106=) rs373311745
NM_001256850.1(TTN):c.87857T>A (p.Ile29286Lys) rs531432790
NM_001256850.1(TTN):c.8902+14T>A rs13388274
NM_001256850.1(TTN):c.89700C>T (p.Tyr29900=) rs376539252
NM_001256850.1(TTN):c.90171C>T (p.Ala30057=) rs373509153
NM_001256850.1(TTN):c.90492C>A (p.Phe30164Leu) rs587780983
NM_001256850.1(TTN):c.91761C>T (p.Tyr30587=) rs368423941
NM_001256850.1(TTN):c.91981+4T>C rs373514079
NM_001256850.1(TTN):c.92334T>C (p.Ile30778=) rs373206096
NM_001256850.1(TTN):c.9402C>T (p.Asn3134=) rs587780987
NM_001256850.1(TTN):c.94907G>A (p.Gly31636Glu) rs397517781
NM_001256850.1(TTN):c.95068T>C (p.Cys31690Arg) rs56061641
NM_001256850.1(TTN):c.95249-10dupT rs397517782
NM_001256850.1(TTN):c.97773C>T (p.Val32591=) rs202180775
NM_001256850.1(TTN):c.99442G>A (p.Glu33148Lys) rs190565627
NM_001256850.1(TTN):c.99534C>T (p.Tyr33178=) rs548677252
NM_001257230.1(ALG13):c.752A>G (p.Gln251Arg) rs372521943
NM_001267550.1(TTN):c.33513_33515dup (p.Glu11172_Tyr11173insGlu) rs368327166
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) rs755262343
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177
NM_001267550.2(TTN):c.1051G>A (p.Val351Met) rs772889673
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr) rs112266780
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971
NM_001267550.2(TTN):c.23378-10C>A rs72648975
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26762-34_26762-10dup rs71393436
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219
NM_001267550.2(TTN):c.30683-2del1 rs1553868981
NM_001267550.2(TTN):c.31762+5_31762+7delGCC rs397517538
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809
NM_001267550.2(TTN):c.32807-10T>A rs138192315
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=) rs368702156
NM_001267550.2(TTN):c.41330-7T>A rs373636988
NM_001267550.2(TTN):c.46697-5A>G rs182706301
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630
NM_001267550.2(TTN):c.53287+6G>A rs149890360
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577
NM_001267550.2(TTN):c.59344+3G>A rs142095604
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502
NM_001267550.2(TTN):c.80859G>A (p.Thr26953=) rs771257647
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) rs541040798
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178
NM_001267578.1(TOR1AIP1):c.554-1G>A rs2245425
NM_001271208.1(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.1(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.1(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.1(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001271208.1(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.1(NEB):c.16637G>A (p.Arg5546His) rs201111610
NM_001271208.1(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.1(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.1(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.1(NEB):c.18783G>A (p.Gln6261=) rs148095660
NM_001271208.1(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.1(NEB):c.21945+13A>C rs75515097
NM_001271208.1(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.1(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.1(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.1(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.1(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.1(NEB):c.4221G>A (p.Gln1407=) rs6709752
NM_001271208.1(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.1(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.1(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.1(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.1(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.1(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.1(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.1(NEB):c.8553G>A (p.Gly2851=) rs200624735
NM_001277115.1(DNAH11):c.10391C>T (p.Thr3464Ile) rs141112088
NM_001277115.1(DNAH11):c.10411G>A (p.Glu3471Lys) rs117729990
NM_001277115.1(DNAH11):c.1053G>A (p.Glu351=) rs201475447
NM_001277115.1(DNAH11):c.10782G>A (p.Pro3594=) rs72657400
NM_001277115.1(DNAH11):c.10976C>T (p.Ala3659Val) rs150631721
NM_001277115.1(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910
NM_001277115.1(DNAH11):c.11402C>G (p.Pro3801Arg) rs146362213
NM_001277115.1(DNAH11):c.11805G>A (p.Pro3935=) rs187489343
NM_001277115.1(DNAH11):c.12174C>T (p.Ala4058=) rs185794149
NM_001277115.1(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731
NM_001277115.1(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972
NM_001277115.1(DNAH11):c.13305C>T (p.Gly4435=) rs150682314
NM_001277115.1(DNAH11):c.1426-9T>C rs72655983
NM_001277115.1(DNAH11):c.1535T>A (p.Met512Lys) rs72655984
NM_001277115.1(DNAH11):c.2380G>A (p.Glu794Lys) rs78653098
NM_001277115.1(DNAH11):c.3237T>C (p.Leu1079=) rs72657304
NM_001277115.1(DNAH11):c.3384C>T (p.Ser1128=) rs79955190
NM_001277115.1(DNAH11):c.4124G>A (p.Arg1375His) rs151018293
NM_001277115.1(DNAH11):c.4202A>G (p.Gln1401Arg) rs199629774
NM_001277115.1(DNAH11):c.4306C>T (p.Arg1436Trp) rs183489539
NM_001277115.1(DNAH11):c.4455A>G (p.Leu1485=) rs79119693
NM_001277115.1(DNAH11):c.4491G>A (p.Glu1497=) rs564202359
NM_001277115.1(DNAH11):c.4501-7A>T rs62447794
NM_001277115.1(DNAH11):c.4598T>G (p.Ile1533Ser) rs73682656
NM_001277115.1(DNAH11):c.5152A>G (p.Ile1718Val) rs137855415
NM_001277115.1(DNAH11):c.5359T>C (p.Leu1787=) rs75932225
NM_001277115.1(DNAH11):c.5671C>T (p.Pro1891Ser) rs201704416
NM_001277115.1(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277115.1(DNAH11):c.640A>G (p.Ile214Val) rs117064287
NM_001277115.1(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925
NM_001277115.1(DNAH11):c.6468+14T>C rs114409690
NM_001277115.1(DNAH11):c.661A>T (p.Met221Leu) rs147525173
NM_001277115.1(DNAH11):c.6683+13C>G rs17145077
NM_001277115.1(DNAH11):c.7332G>A (p.Pro2444=) rs28370951
NM_001277115.1(DNAH11):c.7626G>T (p.Thr2542=) rs2072221
NM_001277115.1(DNAH11):c.7765G>A (p.Val2589Ile) rs145239537
NM_001277115.1(DNAH11):c.8023A>G (p.Ile2675Val) rs72657364
NM_001277115.1(DNAH11):c.8362C>G (p.His2788Asp) rs147478795
NM_001277115.1(DNAH11):c.8478C>T (p.His2826=) rs62445328
NM_001277115.1(DNAH11):c.8798-5G>A rs189821372
NM_001277115.1(DNAH11):c.891A>G (p.Ala297=) rs201934527
NM_001277115.1(DNAH11):c.8969G>A (p.Arg2990His) rs72657371
NM_001277115.1(DNAH11):c.8990G>A (p.Arg2997Gln) rs35865357
NM_001277115.1(DNAH11):c.9018G>A (p.Thr3006=) rs72657372
NM_001277115.1(DNAH11):c.9097A>G (p.Ile3033Val) rs72657373
NM_001277115.1(DNAH11):c.9102+8G>A rs72657374
NM_001277115.1(DNAH11):c.939C>T (p.Ser313=) rs72655977
NM_001277115.1(DNAH11):c.9435G>A (p.Thr3145=) rs72657379
NM_001277115.1(DNAH11):c.9449G>A (p.Arg3150Gln) rs181785201
NM_001277115.1(DNAH11):c.9468T>C (p.Asp3156=) rs201207627
NM_001277115.1(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389
NM_001277269.1(OTOG):c.1389C>A (p.Phe463Leu) rs189947237
NM_001277269.1(OTOG):c.3719C>T (p.Pro1240Leu) rs117005078
NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) rs61736002
NM_001277269.1(OTOG):c.6929G>A (p.Arg2310His) rs142799217
NM_001277269.1(OTOG):c.7081A>G (p.Ile2361Val) rs191722806
NM_001277269.1(OTOG):c.7903G>A (p.Asp2635Asn) rs183470913
NM_001281723.2(BTD):c.218T>C (p.Leu73Pro) rs397514333
NM_001281723.2(BTD):c.267C>T (p.Asn89=) rs147057169
NM_001281723.2(BTD):c.405G>A (p.Pro135=) rs181743799
NM_001281724.2(BTD):c.651C>T (p.Leu217=) rs145388314
NM_001281725.2(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001297.4(CNGB1):c.1101_1103dupGGA (p.Glu371_Val372insGlu) rs141566950
NM_001297.4(CNGB1):c.1580C>T (p.Ala527Val) rs78292723
NM_001297.4(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372
NM_001297.4(CNGB1):c.412+8C>A rs185727761
NM_001297.4(CNGB1):c.606A>G (p.Glu202=) rs76788887
NM_001297.4(CNGB1):c.634A>T (p.Thr212Ser) rs192628905
NM_001297.4(CNGB1):c.712G>A (p.Gly238Ser) rs61745888
NM_001303.3(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001303.3(COX10):c.773T>A (p.Leu258His) rs587780911
NM_001303.3(COX10):c.929-7C>T rs62052075
NM_001303.3(COX10):c.981C>T (p.Asn327=) rs146175179
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001330.3(CTF1):c.591C>G (p.Pro197=) rs397516652
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001363.5(DKC1):c.1512_1514delGAA (p.Lys505del) rs782576893
NM_001369.2(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057
NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) rs202103048
NM_001369.2(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047
NM_001369.2(DNAH5):c.13467G>A (p.Gln4489=) rs140498500
NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202
NM_001369.2(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967
NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914
NM_001369.2(DNAH5):c.2578-9_2578-7delTTT rs71600031
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970
NM_001369.2(DNAH5):c.3112G>A (p.Val1038Met) rs146828513
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667
NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) rs35963491
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264
NM_001369.2(DNAH5):c.6062-4G>A rs143392650
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6579+6A>G rs141389162
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) rs116995413
NM_001369.2(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600
NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) rs143858741
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001376.4(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.4(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.4(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.4(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.4(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.4(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.4(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673