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: 10701

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_000011.10:g.5225460A>C
NC_000012.12:g.121626879_121626884delACCGCC rs1555322544
NC_012920.1(MT-ATP6):m.8803A>T rs878853020
NC_012920.1(MT-CYB):m.15848A>G rs1057520206
NC_012920.1(MT-ND5):m.13528A>G rs55882959
NC_012920.1:m.12535C>T rs876661356
NC_012920.1:m.14706A>G rs1057516070
NC_012920.1:m.3275C>T rs1057516057
NC_012920.1:m.3548T>C rs876661353
NC_012920.1:m.4135T>C rs876661355
NC_012920.1:m.4277T>C rs876661358
NC_012920.1:m.4316A>G rs876661360
NC_012920.1:m.4317delA rs876661361
NC_012920.1:m.4363T>C rs200009705
NC_012920.1:m.7724A>T
NC_012920.1:m.7746A>G
NM_000016.5(ACADM):c.*77C>T rs143911981
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.4(ACADVL):c.1678+23C>T rs147546456
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467
NM_000018.4(ACADVL):c.1828-4C>G rs184559206
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791
NM_000018.4(ACADVL):c.623-8C>T rs144996066
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828
NM_000023.4(SGCA):c.*10C>G rs60300808
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.680+17C>T rs11693280
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148
NM_000031.6(ALAD):c.15C>T (p.Ser5=) rs144608303
NM_000031.6(ALAD):c.72C>T (p.Thr24=) rs1805314
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000035.4(ALDOB):c.-1C>T rs560091436
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
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_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018
NM_000036.2(AMPD1):c.1323+8G>A rs140176911
NM_000036.2(AMPD1):c.1563G>A (p.Glu521=) rs80266556
NM_000036.2(AMPD1):c.1669T>A (p.Ser557Thr) rs140181682
NM_000036.2(AMPD1):c.1944C>T (p.Ile648=) rs34257411
NM_000036.2(AMPD1):c.294C>T (p.Ser98=) rs150208948
NM_000036.2(AMPD1):c.323G>A (p.Arg108His) rs61738827
NM_000036.2(AMPD1):c.481-6del rs727503806
NM_000037.4(ANK1):c.5395-1162C>A
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313
NM_000038.5(APC):c.-30097G>A rs367773779
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.221A>C (p.Glu74Ala) rs773347338
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462_3464AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994
NM_000038.6(APC):c.3910A>G (p.Ile1304Val) rs770157475
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.6(APC):c.5060G>A (p.Arg1687Gln) rs779068685
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6354_6356TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828
NM_000038.6(APC):c.835-3T>C rs372090940
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547
NM_000045.4(ARG1):c.57G>A (p.Gln19=) rs150766204
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000047.2(ARSL):c.715G>A (p.Ala239Thr) rs144630754
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112
NM_000048.4(ASL):c.656-5C>A rs201814807
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.1703G>T (p.Arg568Ile) rs200381392
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.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
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.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) rs370269552
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
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.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
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+8del 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.5675-4T>A rs56075338
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.609C>T (p.Asp203=) rs144709948
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.7187C>G (p.Thr2396Ser) rs370559102
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.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2499-7T>C rs782260332
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000055.4(BCHE):c.1518-6A>G rs142531034
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3359-13A>G rs200250931
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-15A>C rs138705202
NM_000059.3(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.3(BRCA2):c.-39-5del rs276174800
NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.3(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) 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.10150C>T (p.Arg3384Ter) rs397507568
NM_000059.3(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.3(BRCA2):c.10176del (p.Glu3393fs) 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.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.1181A>C (p.Glu394Ala) rs56016241
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_167del 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.1796C>T (p.Ser599Phe) rs1046984
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.1820A>C (p.Lys607Thr) rs55962656
NM_000059.3(BRCA2):c.1865C>T (p.Ala622Val) rs80358477
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1909+22del rs276174816
NM_000059.3(BRCA2):c.1909+22dup rs276174816
NM_000059.3(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
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.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.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268
NM_000059.3(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528
NM_000059.3(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298
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_2927delinsAT (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.2987T>G (p.Leu996Arg) rs80358545
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.322A>C (p.Asn108His) rs80358567
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.3575T>G (p.Phe1192Cys) rs80358606
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_3860del (p.Lys1286del) rs80359406
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.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_4148del rs80359432
NM_000059.3(BRCA2):c.4178C>T (p.Ala1393Val) rs398122776
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.4271C>G (p.Ser1424Cys) rs80358664
NM_000059.3(BRCA2):c.433_435del 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.4718G>A (p.Cys1573Tyr) rs56249050
NM_000059.3(BRCA2):c.476-9dup 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.5414A>G (p.Asn1805Ser) rs80358765
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.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
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.5753A>G (p.His1918Arg) rs80358804
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.6362A>G (p.Glu2121Gly) rs397507846
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.68-7del 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_682-11del 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+83del 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.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.3(BRCA2):c.7008-20_7008-17del 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.7397= (p.Ala2466=) rs169547
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7415A>C (p.Lys2472Thr) rs80358963
NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) rs55854959
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.7565C>T (p.Ser2522Phe) rs80358985
NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012
NM_000059.3(BRCA2):c.7618-19G>T rs371417084
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.7976+23C>T rs183623188
NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=) rs80359800
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.8149G>T (p.Ala2717Ser) rs28897747
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.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.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8755-17A>G rs431825370
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
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.8854A>G (p.Met2952Val) rs397508016
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_8954-2del 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.9043A>G (p.Lys3015Glu) rs587781497
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.9175A>G (p.Lys3059Glu) rs80359174
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.9257-10dup rs276174919
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
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.9275A>G (p.Tyr3092Cys) rs80359195
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+4A>G rs81002848
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+105del 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>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_000062.2(SERPING1):c.465C>T (p.His155=) rs201627388
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.2951-5_2951-3del
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073
NM_000068.4(CACNA1A):c.2980_2985GAGGGC[4] (p.994_995EG[4]) rs764399373
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) rs530655602
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.2051-3C>A rs201294691
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2264-11C>T rs28364537
NM_000070.3(CAPN3):c.2381-12A>G rs73402734
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
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.38C>T (p.Ala13Val) rs368003929
NM_000074.2(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.4(CDK4):c.523-4T>A rs587780667
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152
NM_000075.4(CDK4):c.684-4A>T rs370609910
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355
NM_000076.2(CDKN1C):c.567_572del rs878853632
NM_000077.4(CDKN2A):c.-14C>T rs764244718
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.151-4G>C rs529380972
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.318G>A (p.Val106=) rs199888003
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_000080.4(CHRNE):c.*6A>G rs55806270
NM_000080.4(CHRNE):c.1220-5G>A rs188564977
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377
NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) rs373174008
NM_000082.3(ERCC8):c.363T>C (p.Asp121=) rs4647088
NM_000082.3(ERCC8):c.655G>C (p.Ala219Pro)
NM_000082.3(ERCC8):c.66G>A (p.Glu22=) rs149130938
NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) rs61754098
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000085.4(CLCNKB):c.1297+5G>T rs35351345
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000086.2(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_000086.2(CLN3):c.677+8G>A rs368568189
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1983+9G>T rs201091992
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_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1348-4dup rs758567906
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
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.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.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1776T>C (p.Ala592=) rs188655353
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
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.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000094.3(COL7A1):c.1527C>T (p.Ser509=) rs78149541
NM_000094.3(COL7A1):c.1628G>A (p.Ser543Asn) rs76410546
NM_000094.3(COL7A1):c.1907G>T (p.Gly636Val) rs116005007
NM_000094.3(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350
NM_000094.3(COL7A1):c.4483-11T>C rs74390291
NM_000094.3(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883
NM_000094.3(COL7A1):c.5307+7G>C rs116455408
NM_000094.3(COL7A1):c.5590G>A (p.Ala1864Thr) rs17080261
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.5988C>T (p.Ile1996=) rs146901730
NM_000094.3(COL7A1):c.6217-6C>T rs191559835
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6357G>A (p.Pro2119=) rs142298581
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822
NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=) rs139461888
NM_000094.3(COL7A1):c.7674C>T (p.Asp2558=) rs201140493
NM_000094.3(COL7A1):c.7687-6C>T rs200429526
NM_000094.3(COL7A1):c.802C>T (p.Pro268Ser) rs35623035
NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His) rs139014122
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000095.3(COMP):c.1668+13T>G rs74432818
NM_000095.3(COMP):c.763-8T>C rs374063820
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139
NM_000096.4(CP):c.1348+9T>C rs35272481
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648
NM_000098.3(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_000101.4(CYBA):c.403G>A (p.Glu135Lys) rs114610092
NM_000103.4(CYP19A1):c.629-16dup rs750758078
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671
NM_000104.3(CYP1B1):c.319C>G (p.Leu107Val) rs56339482
NM_000107.2(DDB2):c.738G>A (p.Thr246=) rs144266685
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000111.2(SLC26A3):c.2092G>C (p.Glu698Gln) rs138002384
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000116.5(TAZ):c.110-17= 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.1419C>T (p.Ser473=) rs561818608
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.687C>T (p.Ala229=) rs376919650
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000119.3(EPB42):c.1408+4C>T rs45498491
NM_000119.3(EPB42):c.543T>C (p.Asn181=) rs114136713
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773
NM_000122.1(ERCC3):c.1155C>T (p.Asp385=) rs371396764
NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521
NM_000122.1(ERCC3):c.615G>A (p.Glu205=) rs13427563
NM_000122.1(ERCC3):c.618C>T (p.Ala206=) rs145830873
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1563A>G (p.Glu521=) rs4150317
NM_000123.3(ERCC5):c.1926A>G (p.Glu642=) rs575691378
NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.641G>A (p.Arg214His) rs146833751
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386
NM_000126.4(ETFA):c.186+7A>G rs184587113
NM_000126.4(ETFA):c.562+11A>T rs143834701
NM_000128.3(F11):c.731A>G (p.Gln244Arg)
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) rs5985
NM_000129.3(F13A1):c.160T>A (p.Phe54Ile) rs138690353
NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) rs5982
NM_000130.4(F5):c.1242A>G (p.Lys414=) rs6035
NM_000130.4(F5):c.2247_2249delAGA rs575766548
NM_000130.4(F5):c.2573A>G (p.Lys858Arg) rs4524
NM_000130.4(F5):c.2906A>G (p.Asn969Ser) rs9332604
NM_000130.4(F5):c.5054C>G (p.Thr1685Ser) rs6011
NM_000130.4(F5):c.5290A>G (p.Met1764Val) rs6030
NM_000130.4(F5):c.5558G>T (p.Gly1853Val) rs182566496
NM_000130.4(F5):c.6309G>A (p.Leu2103=) rs35369423
NM_000130.5(F5):c.3845A>G (p.His1282Arg)
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000133.3(F9):c.19A>T (p.Ile7Phe) rs150190385
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000133.3(F9):c.907C>T (p.His303Tyr) rs1801202
NM_000133.4(F9):c.391+4A>G
NM_000133.4(F9):c.8G>A (p.Arg3His)
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000136.3(FANCC):c.*7C>T rs372511678
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000137.3(FAH):c.-34C>T rs142522569
NM_000137.3(FAH):c.139A>G (p.Lys47Glu) rs34749737
NM_000137.3(FAH):c.553+10C>T rs201051426
NM_000137.3(FAH):c.870C>T (p.Asp290=) rs377480457
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.2420-58del rs149403312
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+8del rs193922196
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450
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.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.539-15del rs193922211
NM_000138.4(FBN1):c.5672-3T>C rs193922217
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
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.1923C>T (p.Asp641=) rs148104605
NM_000142.4(FGFR3):c.252G>A (p.Ser84=) rs367973461
NM_000143.3(FH):c.1237-50TC[20] rs144131869
NM_000143.3(FH):c.702T>G (p.Thr234=) rs201083387
NM_000144.5(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000147.4(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001
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_000151.4(G6PC):c.-45G>A rs367816430
NM_000151.4(G6PC):c.562+10G>A rs199505156
NM_000151.4(G6PC):c.694G>A (p.Val232Ile) rs145172999
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000156.6(GAMT):c.392-7C>T rs192416474
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177
NM_000163.5(GHR):c.875+10G>C rs35111599
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000168.6(GLI3):c.1242+8G>A rs75925934
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2826G>T (p.Pro942=) rs34245321
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
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.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.2988G>C (p.Gln996His) rs138640017
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
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.-8C>T rs565211544
NM_000179.2(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
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.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1403G>A (p.Arg468His) rs41295268
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.1696G>A (p.Gly566Arg) rs63749973
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.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.3151G>A (p.Val1051Ile) rs576269342
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.3438+11_3438+14del 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.3557-3A>T rs41295274
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.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4002-14T>C rs587781041
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_000180.3(GUCY2D):c.1236C>T (p.Asp412=) rs61749678
NM_000180.3(GUCY2D):c.1513C>T (p.Leu505=) rs146849545
NM_000180.3(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979
NM_000182.5(HADHA):c.1690-6G>A rs111662358
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.5(HADHA):c.68-10T>G rs144414842
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571
NM_000187.4(HGD):c.260A>C (p.Glu87Ala) rs35702995
NM_000187.4(HGD):c.474G>T (p.Pro158=) rs2293734
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) rs146585331
NM_000190.4(HMBS):c.135G>A (p.Ser45=) rs146801283
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000192.3(TBX5):c.663+36G>T rs2236017
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000194.3(HPRT1):c.384+9C>T rs748658007
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.5(HPS1):c.255+9A>G rs78927693
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000197.2(HSD17B3):c.333C>T (p.Asp111=) rs35189151
NM_000198.4(HSD3B2):c.308-8G>A rs371712928
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000208.4(INSR):c.2355G>A (p.Ser785=) rs148137322
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714_716GCC[6] (p.Pro244dup) rs193922357
NM_000211.5(ITGB2):c.1026G>C (p.Val342=) rs142185460
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460
NM_000211.5(ITGB2):c.31C>T (p.Leu11=) rs5030667
NM_000211.5(ITGB2):c.525C>T (p.Thr175=) rs200134130
NM_000211.5(ITGB2):c.732C>T (p.Ala244=) rs146557638
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn) rs149483341
NM_000213.5(ITGB4):c.1056G>A (p.Ser352=) rs187527294
NM_000213.5(ITGB4):c.1434G>T (p.Gln478His) rs8079267
NM_000213.5(ITGB4):c.1533G>A (p.Pro511=) rs148312483
NM_000213.5(ITGB4):c.1667G>A (p.Arg556His) rs142562582
NM_000213.5(ITGB4):c.1893C>G (p.Ser631=) rs61735295
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000213.5(ITGB4):c.210G>A (p.Ala70=) rs200500313
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) rs61735292
NM_000213.5(ITGB4):c.282C>T (p.Thr94=) rs146609350
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=) rs145351926
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=) rs3191773
NM_000213.5(ITGB4):c.4559-4C>G rs199620842
NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=) rs148658410
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln) rs80224547
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666
NM_000215.3(JAK3):c.1548C>T (p.Ile516=) rs144203232
NM_000215.3(JAK3):c.1551T>A (p.Pro517=) rs143936463
NM_000215.3(JAK3):c.1843C>T (p.Arg615Cys) rs200075643
NM_000215.3(JAK3):c.2079C>T (p.Pro693=) rs145377049
NM_000215.3(JAK3):c.2451C>T (p.Phe817=) rs201576913
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000222.2(KIT):c.1199A>G (p.Asn400Ser) rs72549294
NM_000222.2(KIT):c.1694G>T (p.Gly565Val) rs200945282
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000226.4(KRT9):c.1011C>T (p.Asn337=) rs143100726
NM_000226.4(KRT9):c.1045-9G>A rs144984735
NM_000226.4(KRT9):c.1170+8G>T rs150892974
NM_000226.4(KRT9):c.222C>T (p.Gly74=) rs114665757
NM_000226.4(KRT9):c.351T>C (p.Gly117=) rs115965791
NM_000226.4(KRT9):c.540C>A (p.Asp180Glu) rs114438618
NM_000228.3(LAMB3):c.1008G>A (p.Gln336=) rs114404740
NM_000228.3(LAMB3):c.1413G>A (p.Lys471=) rs112316651
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu) rs61734494
NM_000228.3(LAMB3):c.3479A>G (p.His1160Arg) rs147931502
NM_000228.3(LAMB3):c.689G>C (p.Arg230Thr) rs61734502
NM_000228.3(LAMB3):c.867T>C (p.Asn289=) rs115579649
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_579-20del rs769893030
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000232.4(SGCB):c.430-5dup rs762831481
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000233.4(LHCGR):c.458+3A>G rs76210637
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238
NM_000235.4(LIPA):c.539-6T>C rs201898154
NM_000237.3(LPL):c.213C>G (p.His71Gln) rs11542065
NM_000237.3(LPL):c.678A>G (p.Pro226=) rs558390128
NM_000240.3(MAOA):c.1559A>G (p.Lys520Arg) rs1800466
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.1173T>C (p.Asp391=) rs146077729
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
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.549G>A (p.Pro183=) rs587781035
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.-22C>A rs374749001
NM_000244.3(MEN1):c.1087_1089GAG[1] (p.Glu364del) rs1060499971
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1449C>T (p.Gly483=) rs200280309
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.670-4del rs748005956
NM_000244.3(MEN1):c.670-6C>A rs77461664
NM_000244.3(MEN1):c.670-6C>T rs77461664
NM_000244.3(MEN1):c.799-19TC[2] rs764290037
NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) rs144735718
NM_000246.3(CIITA):c.1230G>A (p.Pro410=) rs199476069
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
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_000248.3(MITF):c.861A>G (p.Glu287=) rs137904015
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.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.1742C>T (p.Pro581Leu) rs63751684
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.1853A>C (p.Lys618Thr) rs63750449
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.2070C>T (p.Tyr690=) rs550890395
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.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.438A>G (p.Gln146=) rs377279035
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.885-21TC[2] rs267607804
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.-179C>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.1461C>G (p.Asp487Glu) rs35107951
NM_000251.2(MSH2):c.1511-41G>C rs202215396
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+8dup rs267607992
NM_000251.2(MSH2):c.211+8C>T rs267607916
NM_000251.2(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.2210+11_2210+22del 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.2437A>G (p.Met813Val) rs63749841
NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) rs63750757
NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
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.55T>C (p.Phe19Leu) rs141711342
NM_000251.2(MSH2):c.7G>T (p.Val3Leu) rs1257347271
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000251.2(MSH2):c.944G>T (p.Gly315Val) rs202026056
NM_000251.3(MSH2):c.942+24_942+29del
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000253.3(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000253.3(MTTP):c.2025C>T (p.Ile675=) rs79023226
NM_000253.3(MTTP):c.2043G>A (p.Glu681=) rs145444300
NM_000253.3(MTTP):c.2673C>T (p.Ser891=) rs115222767
NM_000253.3(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000254.2(MTR):c.*16del rs67705775
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.2815G>C (p.Gly939Arg) rs113042166
NM_000254.2(MTR):c.3079C>T (p.Arg1027Trp) rs116836001
NM_000254.2(MTR):c.3474G>A (p.Leu1158=) rs142113735
NM_000254.2(MTR):c.3712-7T>G rs151081130
NM_000254.2(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(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.1246G>A (p.Gly416Ser) rs371513491
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.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.2148+6_2148+9del 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.3279C>T (p.Gly1093=) rs36212064
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
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.82G>A (p.Val28Met) rs776834755
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.926+8C>T rs377595584
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.1632C>T (p.Thr544=) rs587781089
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544
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.3474C>T (p.Ser1158=) rs587780395
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861
NM_000257.4(MYH7):c.5560-7dup rs762612534
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233
NM_000257.4(MYH7):c.714C>T (p.Asn238=) rs202141819
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000259.3(MYO5A):c.5065G>A (p.Val1689Ile) rs143298463
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581
NM_000260.4(MYO7A):c.3503+17G>A rs369969967
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.4(MYO7A):c.4441+7C>T rs372493678
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114
NM_000261.2(MYOC):c.855G>T (p.Thr285=) rs146606638
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000266.4(NDP):c.101C>T (p.Ser34Leu) rs144031424
NM_000266.4(NDP):c.11A>T (p.His4Leu) rs149708528
NM_000267.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_000267.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158
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.2921A>G (p.Asn974Ser) rs557875547
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4358C>T (p.Ala1453Val) rs587781553
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.6316A>G (p.Ile2106Val) rs200022550
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.7127-33TTGT[3] rs149197458
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.8436T>C (p.Asn2812=) rs142636150
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000274.3(OAT):c.969C>T (p.Tyr323=) rs138895801
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000276.4(OCRL):c.39+10G>A rs765141317
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000276.4(OCRL):c.954C>T (p.Arg318=) rs149646700
NM_000277.3(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) rs146646008
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000285.4(PEPD):c.1098C>T (p.His366=) rs149579451
NM_000285.4(PEPD):c.456G>A (p.Thr152=) rs200011486
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929
NM_000293.3(PHKB):c.1127-14A>G rs185628131
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357
NM_000293.3(PHKB):c.2278+15C>G rs201402032
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.870+10T>A rs144932435
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792
NM_000295.5(SERPINA1):c.-10T>C rs11558258
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832
NM_000297.4(PKD2):c.2829C>T (p.Ser943=) rs138495345
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962
NM_000301.3(PLG):c.1481C>T (p.Ala494Val) rs4252128
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000301.3(PLG):c.782G>A (p.Arg261His) rs4252187
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933
NM_000306.4(POU1F1):c.666-6C>T rs201995103
NM_000308.3(CTSA):c.159C>T (p.Ile53=) rs150140984
NM_000308.3(CTSA):c.934G>A (p.Asp312Asn) rs142892564
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.*6G>A rs113082671
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) rs1800014
NM_000312.3(PROC):c.927C>T (p.Ala309=) rs200731614
NM_000314.6(PTEN):c.-975G>A rs587780001
NM_000314.7(PTEN):c.*10del rs756681683
NM_000314.7(PTEN):c.-545_-543GGC[6] rs34413673
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000314.7(PTEN):c.210-39A>G rs370918174
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600
NM_000321.2(RB1):c.-69G>C rs753117180
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.16C>T (p.Pro6Ser) rs886043138
NM_000321.2(RB1):c.1707A>G (p.Leu569=) rs3092895
NM_000321.2(RB1):c.1770T>C (p.Cys590=) rs145310579
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.269G>T (p.Gly90Val) rs554727080
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.731T>C (p.Ile244Thr) rs147754935
NM_000321.2(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770
NM_000326.5(RLBP1):c.141+6G>A rs181321141
NM_000328.3(RPGR):c.1145A>T (p.Asp382Val) rs757714144
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
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=) rs368811155
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074
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.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_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(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_000340.2(SLC2A2):c.*8del (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702
NM_000341.4(SLC3A1):c.892-6C>G rs114640930
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280
NM_000345.4(SNCA):c.243A>G (p.Thr81=) rs568436589
NM_000346.4(SOX9):c.1023_1025GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868
NM_000349.3(STAR):c.466-5G>A rs375678713
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435
NM_000350.3(ABCA4):c.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865
NM_000355.4(TCN2):c.428-4T>C rs201408393
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2739G>A (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.4050G>T (p.Thr1350=) rs148889187
NM_000356.4(TCOF1):c.4140_4142GAA[2] (p.Lys1383del) rs151344581
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.803A>G (p.Glu268Gly) rs150637771
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031
NM_000359.3(TGM1):c.2264C>T (p.Ser755Leu) rs35926651
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055
NM_000359.3(TGM1):c.361C>T (p.Arg121Cys) rs80145541
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000362.4(TIMP3):c.516C>T (p.Phe172=) rs149161075
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.151-6C>G rs377258542
NM_000363.5(TNNI3):c.25-4C>T rs202086705
NM_000363.5(TNNI3):c.373-10= rs7252610
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000364.4(TNNT2):c.200-11A>G rs368658464
NM_000364.4(TNNT2):c.200-4C>G rs397516448
NM_000364.4(TNNT2):c.522C>T (p.Asn174=) rs483352833
NM_000364.4(TNNT2):c.711-6G>A rs113471285
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.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1315C>G (p.Leu439Val) rs199800297
NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) rs371093730
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.1580A>G (p.Gln527Arg) rs767708806
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1591G>A (p.Val531Met) rs377279170
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1678G>A (p.Gly560Ser) rs746304922
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
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.2066G>A (p.Arg689His) rs200827913
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
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.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2303G>A (p.Arg768His) rs1033725987
NM_000368.4(TSC1):c.2312T>C (p.Met771Thr) rs760208449
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2653C>T (p.Arg885Trp) rs118203723
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2968G>A (p.Glu990Lys) rs200398750
NM_000368.4(TSC1):c.3005A>T (p.Asp1002Val) rs202121327
NM_000368.4(TSC1):c.3019C>T (p.His1007Tyr) rs764738792
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.3130G>A (p.Glu1044Lys) rs796053462
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3253A>G (p.Lys1085Glu) rs1442514678
NM_000368.4(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573
NM_000368.4(TSC1):c.3290G>A (p.Arg1097His) rs118203750
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000368.4(TSC1):c.3386C>T (p.Ala1129Val) rs772233665
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082
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.518C>T (p.Ala173Val) rs777484049
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) rs371225009
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.899C>T (p.Thr300Ile) rs370916731
NM_000368.4(TSC1):c.89A>G (p.Lys30Arg) rs796053452
NM_000368.4(TSC1):c.917G>A (p.Cys306Tyr) rs752290177
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591
NM_000369.2(TSHR):c.2161G>T (p.Val721Phe) rs61745409
NM_000369.2(TSHR):c.357T>A (p.Pro119=) rs144084915
NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000369.3(TSHR):c.202C>T rs142063461
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.416C>T (p.Thr139Met) rs28933981
NM_000371.3(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.3(TTR):c.437A>G (p.Lys146Arg) rs536294863
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775
NM_000374.5(UROD):c.450G>A (p.Pro150=) rs2234479
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115
NM_000377.2(WAS):c.1197_1205delACCGCCACC rs193922412
NM_000377.2(WAS):c.264C>T (p.Tyr88=) rs150520117
NM_000377.2(WAS):c.285G>A (p.Leu95=) rs781799471
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000379.4(XDH):c.1629C>T (p.Phe543=) rs140651875
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala) rs45491693
NM_000379.4(XDH):c.1856+7G>A rs184028774
NM_000379.4(XDH):c.1857-4G>A rs17395175
NM_000379.4(XDH):c.1990G>A (p.Val664Ile) rs201301387
NM_000379.4(XDH):c.2634T>C (p.Ile878=) rs146994573
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu) rs45619033
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu) rs141335716
NM_000379.4(XDH):c.405C>T (p.Thr135=) rs72549370
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677
NM_000383.4(AIRE):c.1566+8C>T rs72650680
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly) rs61742331
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile) rs72654409
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.3(APOB):c.11854C>T (p.Arg3952Cys) rs535121944
NM_000384.3(APOB):c.12088-13del rs751121092
NM_000384.3(APOB):c.12088-14T>C rs182329513
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.3(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.3(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) rs61743313
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.3(APOB):c.13154G>A (p.Arg4385His) rs533755016
NM_000384.3(APOB):c.13160A>T (p.Glu4387Val) rs150412734
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.3(APOB):c.1353-12C>T rs76202659
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.3(APOB):c.2068-4T>A rs41291161
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.3(APOB):c.3034G>A (p.Glu1012Lys) rs575505383
NM_000384.3(APOB):c.3122-6G>A rs72653071
NM_000384.3(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.3(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.3(APOB):c.4299G>A (p.Ser1433=) rs376103623
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.3(APOB):c.4449A>G (p.Glu1483=) rs151018874
NM_000384.3(APOB):c.49_51CTG[8] (p.Leu21_Leu22dup) rs745520533
NM_000384.3(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.3(APOB):c.6636_6638TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.3(APOB):c.6937= (p.Ile2313=) rs584542
NM_000384.3(APOB):c.7242A>C (p.Glu2414Asp) rs72653091
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.3(APOB):c.8889C>T (p.Ile2963=) rs72653097
NM_000384.3(APOB):c.905-15C>G rs72653061
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000390.4(CHM):c.1244+8T>A rs369829791
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750
NM_000391.3(TPP1):c.-40T>C rs200184958
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1552-9C>T rs369699167
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) rs17222596
NM_000392.5(ABCC2):c.1815+4G>A rs574319283
NM_000392.5(ABCC2):c.2095-6A>G rs202210861
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700
NM_000392.5(ABCC2):c.4509-9T>C rs180717330
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1923+8T>C rs191193125
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs) rs568607741
NM_000396.4(CTSK):c.244-10_244-8del rs774922287
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) rs530614586
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1962C>T (p.Phe654=) rs762985501
NM_000400.3(ERCC2):c.2127C>T (p.Thr709=) rs147128863
NM_000400.3(ERCC2):c.545C>T (p.Ala182Val) rs142936491
NM_000400.3(ERCC2):c.988C>T (p.Leu330=) rs146022050
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) rs369029338
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000404.4(GLB1):c.-37C>G rs115554377
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127
NM_000405.5(GM2A):c.126G>A (p.Gly42=) rs113271740
NM_000409.4(GUCA1A):c.205G>T (p.Gly69Cys) rs146354667
NM_000410.3(HFE):c.175G>A (p.Val59Met) rs111033557
NM_000411.8(HLCS):c.-254C>T rs149104163
NM_000411.8(HLCS):c.1254C>T (p.Leu418=) rs138209330
NM_000411.8(HLCS):c.2174G>A (p.Arg725Gln) rs147474255
NM_000411.8(HLCS):c.424G>A (p.Val142Ile) rs149291867
NM_000411.8(HLCS):c.890G>A (p.Arg297Gln) rs146030669
NM_000414.4(HSD17B4):c.*6A>G rs111671384
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000416.2(IFNGR1):c.1101G>A (p.Pro367=) rs149761943
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_000418.4(IL4R):c.1160C>T (p.Ser387Leu) rs6413500
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758
NM_000419.5(ITGA2B):c.1848G>A (p.Val616=) rs79289329
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu) rs7207402
NM_000419.5(ITGA2B):c.2127G>A (p.Lys709=) rs114232872
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.3429C>A (p.Ile1143=) rs200646230
NM_000426.3(LAMA2):c.3556-15T>G rs17741922
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4301C>T (p.Ser1434Leu)
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.7344T>C (p.Asn2448=) rs199931560
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_000427.3(LORICRIN):c.112_114GGC[5] (p.Gly41dup) rs770195151
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861
NM_000428.3(LTBP2):c.2789-9T>C rs368269193
NM_000428.3(LTBP2):c.3527-3C>A rs138194436
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380
NM_000428.3(LTBP2):c.4356G>A (p.Pro1452=) rs137854865
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000431.4(MVK):c.226+4A>G rs145732290
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.4(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.1157G>A (p.Arg386Gln) rs147908264
NM_000433.3(NCF2):c.1360C>T (p.Pro454Ser) rs55761650
NM_000433.3(NCF2):c.174+8G>C rs34009795
NM_000433.3(NCF2):c.563G>A (p.Arg188Lys) rs115365142
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231
NM_000436.4(OXCT1):c.696G>A (p.Leu232=) rs138363255
NM_000436.4(OXCT1):c.733-3T>C rs77000151
NM_000436.4(OXCT1):c.79-11del rs748715820
NM_000439.5(PCSK1):c.1197-9C>T rs200973203
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) rs6236
NM_000439.5(PCSK1):c.397-10T>C rs142423997
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594
NM_000440.3(PDE6A):c.1614A>G (p.Pro538=) rs139697733
NM_000440.3(PDE6A):c.2568C>T (p.Ser856=) rs147000954
NM_000440.3(PDE6A):c.498G>A (p.Val166=) rs138274547
NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) rs34230349
NM_000440.3(PDE6A):c.998+11C>T rs75319698
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.2(SLC26A4):c.1804-6G>A rs377713770
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249
NM_000441.2(SLC26A4):c.416-7T>C rs111033387
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521
NM_000445.5(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.5(PLEC):c.10383C>A (p.Thr3461=) rs199879193
NM_000445.5(PLEC):c.10737G>A (p.Val3579=) rs368312695
NM_000445.5(PLEC):c.11245C>T (p.Leu3749=) rs375598997
NM_000445.5(PLEC):c.11499C>T (p.Thr3833=) rs559510708
NM_000445.5(PLEC):c.12075C>T (p.Pro4025=) rs113137721
NM_000445.5(PLEC):c.12297C>T (p.Phe4099=) rs150427959
NM_000445.5(PLEC):c.1239C>G (p.Ser413Arg) rs201667254
NM_000445.5(PLEC):c.12435C>T (p.Leu4145=) rs782692436
NM_000445.5(PLEC):c.12957G>A (p.Val4319=) rs199509259
NM_000445.5(PLEC):c.13230C>T (p.Ala4410=)
NM_000445.5(PLEC):c.13551C>T (p.Arg4517=) rs531535217
NM_000445.5(PLEC):c.1959T>A (p.Thr653=) rs377039110
NM_000445.5(PLEC):c.2385+9dup rs35671527
NM_000445.5(PLEC):c.2539-7G>A rs372799330
NM_000445.5(PLEC):c.2539-8C>T rs201818691
NM_000445.5(PLEC):c.2559C>T (p.Asp853=) rs202135215
NM_000445.5(PLEC):c.2616C>T (p.Ser872=) rs199721954
NM_000445.5(PLEC):c.2617G>A (p.Gly873Ser) rs189233521
NM_000445.5(PLEC):c.2632G>A (p.Val878Met) rs200647397
NM_000445.5(PLEC):c.2829C>T (p.Thr943=) rs372942259
NM_000445.5(PLEC):c.3252G>A (p.Ser1084=) rs371271326
NM_000445.5(PLEC):c.4447G>A (p.Val1483Met) rs186848953
NM_000445.5(PLEC):c.4637C>T (p.Ser1546Leu) rs182120395
NM_000445.5(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.5(PLEC):c.5061C>T (p.Ala1687=) rs199612329
NM_000445.5(PLEC):c.5472C>T (p.Arg1824=) rs551187778
NM_000445.5(PLEC):c.5601C>T (p.Ala1867=) rs374790646
NM_000445.5(PLEC):c.6243C>T (p.His2081=) rs563719398
NM_000445.5(PLEC):c.6381G>A (p.Ala2127=) rs188154081
NM_000445.5(PLEC):c.6675C>T (p.Thr2225=) rs144242254
NM_000445.5(PLEC):c.7182G>A (p.Thr2394=) rs202132558
NM_000445.5(PLEC):c.7348G>A (p.Ala2450Thr) rs193257576
NM_000445.5(PLEC):c.7911G>A (p.Ala2637=) rs376112916
NM_000445.5(PLEC):c.8694C>T (p.Cys2898=) rs35821434
NM_000445.5(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_000445.5(PLEC):c.9639A>G (p.Thr3213=) rs201102719
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000448.2(RAG1):c.2751G>A (p.Gln917=) rs150721661
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=) rs750638027
NM_000451.3(SHOX):c.702G>A (p.Ala234=) rs576542942
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830
NM_000453.3(SLC5A5):c.1224C>T (p.Leu408=) rs117626343
NM_000453.3(SLC5A5):c.1632C>G (p.Ala544=) rs45531732
NM_000455.4(STK11):c.*8C>T rs587782259
NM_000455.4(STK11):c.-107dup rs927999961
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.465-4G>A rs587780009
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.795G>A (p.Glu265=) rs730881963
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.894C>A (p.Phe298Leu) rs199681533
NM_000457.4(HNF4A):c.290+17dup rs371937621
NM_000457.4(HNF4A):c.492+6G>A rs182980547
NM_000458.4(HNF1B):c.1045+12T>C rs141166864
NM_000460.4(THPO):c.639T>A (p.Thr213=) rs1042348
NM_000462.5(UBE3A):c.1278C>T (p.Asp426=) rs149506027
NM_000462.5(UBE3A):c.1776C>T (p.Tyr592=) rs139082033
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser) rs587781443
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr) rs587782555
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540
NM_000465.4(BARD1):c.279A>G (p.Gln93=) rs370000575
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229
NM_000466.3(PEX1):c.1671-7T>C rs74519968
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2718+3A>G rs370536529
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000477.7(ALB):c.1290-6T>C rs57705126
NM_000477.7(ALB):c.1608T>C (p.Asp536=) rs56042353
NM_000477.7(ALB):c.1785+7C>T rs141131597
NM_000477.7(ALB):c.612A>G (p.Pro204=) rs58639526
NM_000477.7(ALB):c.616-3T>C rs61375018
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563
NM_000480.3(AMPD3):c.1158C>T (p.His386=) rs76407515
NM_000480.3(AMPD3):c.453+8G>A rs150321693
NM_000480.3(AMPD3):c.696C>T (p.His232=) rs34319136
NM_000480.3(AMPD3):c.987G>A (p.Ala329=) rs75283041
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.3(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.3(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000484.4(APP):c.355+9G>A rs371324252
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708
NM_000485.3(APRT):c.162C>T (p.His54=) rs145490332
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.466-7G>C rs6151414
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634
NM_000488.3(SERPINC1):c.678C>T (p.Thr226=) rs2227627
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
NM_000489.5(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.5(ATRX):c.1303A>G (p.Ile435Val)
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3527A>T (p.Lys1176Met) rs191563592
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4224G>A (p.Lys1408=) rs781984385
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6871A>G (p.Ile2291Val) rs374244026
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
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.1365G>A (p.Ala455=) rs79074685
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.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.2245C>T (p.Leu749=) rs151235408
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) rs144055758
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.3285A>T (p.Thr1095=) rs1800118
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.3718-24G>A rs374013084
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.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000494.4(COL17A1):c.1212C>T (p.Ala404=) rs146490594
NM_000494.4(COL17A1):c.1306G>A (p.Gly436Arg) rs805697
NM_000494.4(COL17A1):c.1307G>A (p.Gly436Glu) rs61731082
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser) rs149983875
NM_000494.4(COL17A1):c.1590G>A (p.Ala530=) rs150738577
NM_000494.4(COL17A1):c.2038+9G>T rs368960793
NM_000494.4(COL17A1):c.2092+5G>A rs142728983
NM_000494.4(COL17A1):c.2128+8A>C rs138724889
NM_000494.4(COL17A1):c.2586C>T (p.Pro862=) rs759846848
NM_000494.4(COL17A1):c.2715C>T (p.Ser905=) rs139467442
NM_000494.4(COL17A1):c.2755G>A (p.Asp919Asn) rs117564807
NM_000494.4(COL17A1):c.2971G>A (p.Val991Met) rs138824013
NM_000494.4(COL17A1):c.4033G>A (p.Gly1345Arg) rs140068476
NM_000494.4(COL17A1):c.4296T>C (p.Thr1432=) rs571566750
NM_000494.4(COL17A1):c.4304C>T (p.Ala1435Val) rs146841330
NM_000494.4(COL17A1):c.4317C>G (p.Pro1439=) rs143826232
NM_000494.4(COL17A1):c.630G>A (p.Thr210=) rs149012179
NM_000494.4(COL17A1):c.672C>T (p.Thr224=) rs137868472
NM_000495.5(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_000495.5(COL4A5):c.2216C>A (p.Pro739His)
NM_000495.5(COL4A5):c.262C>T (p.Pro88Ser) rs773883586
NM_000495.5(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745
NM_000495.5(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695
NM_000495.5(COL4A5):c.3940C>T (p.Pro1314Ser) rs754836509
NM_000495.5(COL4A5):c.4054C>A (p.Leu1352Ile) rs143020337
NM_000495.5(COL4A5):c.4264C>T (p.Arg1422Cys) rs144282156
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.4675C>G (p.Pro1559Ala) rs104886295
NM_000495.5(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.858T>C (p.Gly286=) rs183837448
NM_000495.5(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.395+9C>T rs61751140
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) rs561111097
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000503.6(EYA1):c.1699-8T>C rs201537030
NM_000503.6(EYA1):c.783G>A (p.Pro261=) rs146648560
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184
NM_000504.4(F10):c.60C>T (p.Leu20=) rs3211718
NM_000506.4(F2):c.1233G>A (p.Pro411=) rs5898
NM_000506.4(F2):c.1602G>A (p.Pro534=) rs5900
NM_000506.4(F2):c.1628G>T (p.Arg543Leu) rs143064939
NM_000506.4(F2):c.79+7G>A rs3136431
NM_000506.4(F2):c.813C>T (p.Gly271=) rs5899
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116
NM_000507.4(FBP1):c.334-15T>C rs370920869
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026
NM_000512.5(GALNS):c.*3C>G rs77826920
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys) rs281860607
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.5(HBB):c.-133G>A rs72561473
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.316-179A>C rs185607297
NM_000518.5(HBB):c.316-45G>C rs140033163
NM_000518.5(HBB):c.316-70C>G rs193922560
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_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.843C>T (p.Leu281=) rs116392938
NM_000526.5(KRT14):c.88C>T (p.Arg30Cys) rs201069984
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.1988-5C>G rs375877599
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
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.2289G>T (p.Glu763Asp) rs774698247
NM_000527.4(LDLR):c.2324T>C (p.Val775Ala) rs780300776
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.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.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_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970
NM_000529.2(MC2R):c.318C>T (p.Ile106=) rs147706299
NM_000529.2(MC2R):c.435C>T (p.Arg145=) rs369830440
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000534.4(PMS1):c.174G>T (p.Gly58=) rs143323454
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000538.3(RFXAP):c.312C>T (p.Ser104=) rs373233313
NM_000538.3(RFXAP):c.430G>A (p.Glu144Lys) rs201754085
NM_000538.3(RFXAP):c.666A>G (p.Ala222=) rs139675642
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.1123-11C>T rs3745845
NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) rs140616359
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
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.14130-8C>G rs140808099
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.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.2871-5C>T rs45585535
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
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.4711A>G (p.Ile1571Val) rs146429605
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.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
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.9152G>A (p.Arg3051His) rs147303895
NM_000540.2(RYR1):c.9685+16C>T rs45496799
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9723C>T (p.Pro3241=) rs199828145
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000541.5(SAG):c.511A>G (p.Lys171Glu)
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464
NM_000542.5(SFTPB):c.633C>T (p.Cys211=) rs35049407
NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr) rs36210375
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.108_113GCTGGC[5] (p.38_39AL[5]) rs3838786
NM_000543.5(SMPD1):c.1091+9C>T rs143612450
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000545.6(HNF1A):c.1310-12C>T rs193922579
NM_000545.6(HNF1A):c.1502-7C>T rs193922581
NM_000545.6(HNF1A):c.1624-19G>A rs193922586
NM_000545.6(HNF1A):c.336G>A (p.Pro112=) rs371365341
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000546.5(TP53):c.993+13G>C rs369599972
NM_000547.5(TPO):c.1317G>A (p.Lys439=) rs28910598
NM_000547.5(TPO):c.2499C>T (p.Asp833=) rs142148533
NM_000547.5(TPO):c.2749-4G>A rs28915686
NM_000547.5(TPO):c.30G>A (p.Thr10=) rs28909989
NM_000547.5(TPO):c.404C>A (p.Pro135His) rs61758083
NM_000547.5(TPO):c.840G>A (p.Pro280=) rs187974063
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu) rs587778728
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223
NM_000548.5(TSC2):c.1257+8C>A rs767392684
NM_000548.5(TSC2):c.126G>A (p.Ala42=) rs886043548
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.5(TSC2):c.1610G>A (p.Arg537His) rs372681603
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser) rs1060500944
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn) rs758239066
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.1945A>G (p.Met649Val) rs762331610
NM_000548.5(TSC2):c.1946+4C>T rs752017577
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353
NM_000548.5(TSC2):c.2018C>T (p.Ala673Val) rs745897413
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu) rs370553131
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) rs201769220
NM_000548.5(TSC2):c.2097+13G>A rs367915255
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val) rs397514984
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379
NM_000548.5(TSC2):c.2465C>T (p.Ala822Val) rs936484229
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438
NM_000548.5(TSC2):c.2546-4G>A rs746958032
NM_000548.5(TSC2):c.2546-5C>T rs45517247
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2837+4C>T rs544409858
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp) rs769527912
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=) rs747104674
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu) rs45517287
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser) rs796053493
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.5(TSC2):c.3610+4C>T rs201978396
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3611-5C>T rs200194551
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184
NM_000548.5(TSC2):c.3883+5C>T rs45448994
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp) rs149340262
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu) rs876659087
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4027_4029GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu) rs45517326
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile) rs373982157
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met) rs45517332
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr) rs777529733
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.5(TSC2):c.4469A>G (p.Glu1490Gly) rs759882146
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4510C>T (p.Leu1504Phe) rs747613240
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val) rs764903148
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.5(TSC2):c.4569+4G>A rs1051944517
NM_000548.5(TSC2):c.4849+13G>A rs780953278
NM_000548.5(TSC2):c.4849+4C>T rs370426490
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr) rs878854112
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5068+8C>T rs747827911
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met) rs370864445
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392
NM_000548.5(TSC2):c.5161-4C>G rs45517406
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser) rs779621136
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val) rs1051758
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr) rs1555441265
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr) rs1245934608
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu) rs878854119
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys) rs777166275
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017
NM_000548.5(TSC2):c.759C>T (p.Cys253=) rs45517125
NM_000548.5(TSC2):c.775-4G>A rs754957491
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076
NM_000548.5(TSC2):c.849-4T>C rs752614339
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.5(TSC2):c.975+7C>T rs372463702
NM_000548.5(TSC2):c.976-3C>T rs45517151
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu) rs140910086
NM_000550.3(TYRP1):c.1082-8G>A rs79992094
NM_000550.3(TYRP1):c.1082-9T>C rs144041081
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000550.3(TYRP1):c.913+9C>T rs147268542
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000552.4(VWF):c.3686T>G (p.Val1229Gly) rs61749367
NM_000552.4(VWF):c.7887+12T>C rs55687637
NM_000553.4(WRN):c.1530A>T (p.Glu510Asp) rs149565907
NM_000553.4(WRN):c.1717A>G (p.Thr573Ala) rs150148567
NM_000553.4(WRN):c.3422C>T (p.Ser1141Leu) rs139323683
NM_000553.4(WRN):c.3785C>G (p.Thr1262Arg) rs78488552
NM_000553.4(WRN):c.4180A>G (p.Ile1394Val) rs545431480
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.1909C>T (p.Arg637Trp) rs148286708
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.3875C>A (p.Ser1292Tyr) rs142614369
NM_000553.5(WRN):c.95A>G (p.Lys32Arg) rs34477820
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837
NM_000601.6(HGF):c.1765G>A (p.Val589Ile) rs538415452
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248
NM_000617.3(SLC11A2):c.504A>G (p.Ser168=) rs145155499
NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr) rs115874705
NM_000631.5(NCF4):c.240T>C (p.Ser80=) rs35431748
NM_000631.5(NCF4):c.478G>A (p.Val160Met) rs150103256
NM_000631.5(NCF4):c.628-14C>A rs56071149
NM_000637.5(GSR):c.1069A>G (p.Ile357Val)
NM_000639.3(FASLG):c.451+7A>G rs201525996
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000660.7(TGFB1):c.918C>T (p.Leu306=) rs72480429
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys)
NM_000666.3(ACY1):c.1178G>A (p.Arg393His) rs121912701
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695
NM_000687.4(AHCY):c.28+7C>T rs201479827
NM_000687.4(AHCY):c.663T>C (p.Tyr221=) rs58020044
NM_000687.4(AHCY):c.744C>T (p.Asn248=) rs150175934
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192
NM_000709.4(BCKDHA):c.288+10G>A rs376894084
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) rs750998195
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.7(CACNA1C):c.4726+9G>A rs369267978
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000726.4(CACNB4):c.288C>T (p.Ala96=) rs558998873
NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) rs143949187
NM_000733.3(CD3E):c.507C>T (p.Gly169=) rs2231447
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=) rs147530139
NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
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.296G>A (p.Arg99His) rs143103435
NM_000744.6(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000747.3(CHRNB1):c.1044+9G>A rs143871421
NM_000747.3(CHRNB1):c.342G>A (p.Val114=) rs75019736
NM_000747.3(CHRNB1):c.821-9C>T rs76001008
NM_000747.3(CHRNB1):c.903C>T (p.Thr301=) rs117168441
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000751.3(CHRND):c.1253-9C>T rs2853458
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502
NM_000782.5(CYP24A1):c.604G>C (p.Asp202His) rs114579367
NM_000784.4(CYP27A1):c.-6C>T rs199891090
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335
NM_000785.4(CYP27B1):c.348C>T (p.His116=) rs372771210
NM_000787.4(DBH):c.105C>T (p.Ala35=) rs140025171
NM_000787.4(DBH):c.1572C>T (p.Asn524=) rs200509113
NM_000787.4(DBH):c.1722+4C>T rs45532436
NM_000787.4(DBH):c.1734C>T (p.Asn578=) rs45446891
NM_000787.4(DBH):c.533G>A (p.Arg178Gln) rs76819676
NM_000789.4(ACE):c.1872C>T (p.Pro624=) rs138812566
NM_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912
NM_000789.4(ACE):c.417+8G>A rs114000559
NM_000789.4(ACE):c.5G>T (p.Gly2Val) rs558593002
NM_000789.4(ACE):c.970C>T (p.Arg324Trp) rs35141294
NM_000789.4(ACE):c.975G>T (p.Val325=) rs61738840
NM_000796.5(DRD3):c.1077C>T (p.His359=) rs3732791
NM_000815.5(GABRD):c.1060-7C>T rs368961588
NM_000817.3(GAD1):c.1473T>C (p.Tyr491=) rs146199288
NM_000821.7(GGCX):c.1806C>G (p.Val602=) rs143538795
NM_000821.7(GGCX):c.1906C>A (p.Pro636Thr) rs61733105
NM_000821.7(GGCX):c.529A>G (p.Asn177Asp) rs149039591
NM_000823.4(GHRHR):c.741C>T (p.Leu247=) rs151019928
NM_000834.4(GRIN2B):c.-18-10G>C rs146841522
NM_000834.4(GRIN2B):c.1147T>A (p.Ser383Thr) rs199671864
NM_000834.4(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748
NM_000834.4(GRIN2B):c.1569C>T (p.Val523=) rs148573953
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.3028C>T (p.Pro1010Ser) rs956362869
NM_000834.4(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137
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.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.4230G>A (p.Thr1410=) rs149655315
NM_000834.4(GRIN2B):c.679A>G (p.Ile227Val) rs201672517
NM_000843.4(GRM6):c.1944G>T (p.Ala648=) rs62638619
NM_000860.6(HPGD):c.680A>G (p.Asn227Ser) rs117270501
NM_000875.5(IGF1R):c.*2426del rs398028512
NM_000875.5(IGF1R):c.1686G>A (p.Val562=) rs2228531
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=) rs56294552
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) rs45598332
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) rs55770488
NM_000875.5(IGF1R):c.3187-5C>T rs45495500
NM_000875.5(IGF1R):c.3594C>T (p.Phe1198=) rs35701313
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=) rs34364279
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp)
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=) rs758909916
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000900.5(MGP):c.207T>C (p.Asn69=) rs186013880
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000934.3(SERPINF2):c.1107C>T (p.Ser369=) rs148395057
NM_000939.4(POMC):c.158A>G (p.Asp53Gly) rs28932470
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605
NM_000939.4(POMC):c.583G>A (p.Ala195Thr)
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472
NM_000941.3(POR):c.1521C>T (p.Gly507=) rs370823127
NM_000941.3(POR):c.1815+8G>A rs72557952
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.1898+3G>A rs41301439
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.3(POR):c.517-4G>A rs41299496
NM_000941.3(POR):c.744C>T (p.Tyr248=) rs201786397
NM_000941.3(POR):c.87G>A (p.Thr29=) rs41295381
NM_001001547.3(CD36):c.390A>T (p.Thr130=) rs148114593
NM_001002294.3(FMO3):c.1221T>C (p.Asn407=) rs79553697
NM_001002755.3(NFU1):c.166+8T>A rs199927640
NM_001003787.4(STRADA):c.135G>A (p.Ala45=) rs56163554
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001003800.2(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_001005337.3(PKP1):c.1008C>T (p.Ser336=) rs148303000
NM_001005337.3(PKP1):c.1325C>T (p.Ala442Val) rs10920171
NM_001005337.3(PKP1):c.241G>A (p.Gly81Arg) rs147328328
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser) rs577767034
NM_001005360.2(DNM2):c.235+12C>A rs147026993
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.528C>T (p.Pro176=) rs147579870
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459
NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln) rs138632224
NM_001008537.3(NEXMIF):c.381G>A (p.Glu127=) rs148717498
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385
NM_001009894.3(C12orf29):c.*807_*808CT[1] rs569673313
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001010892.3(RSPH4A):c.*8A>G rs575857124
NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA rs727504884
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819
NM_001010892.3(RSPH4A):c.1917-4A>G rs201826366
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004