ClinVar Miner

Variants with conflicting interpretations "benign" and "likely benign"

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

Total variants with conflicting interpretations: 27343

HGVS dbSNP
G6PD:c.1455-13T>C rs2071429
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
MSH6:c.3647-51_3647-35del17 rs267607687
MYH11:c.503-14_503-12del rs141564071
NC_000011.10:g.5225460A>C
NC_012920.1(MT-ATP6):m.8616G>T rs41427749
NC_012920.1(MT-ATP6):m.8932C>T rs878853013
NC_012920.1(MT-ATP8):m.8519G>A rs878853091
NC_012920.1(MT-CO1):m.6260G>A rs201395766
NC_012920.1(MT-CO1):m.6261G>A rs201262114
NC_012920.1(MT-CO3):m.9861T>C rs878853060
NC_012920.1(MT-CO3):m.9966G>A rs200809063
NC_012920.1(MT-CYB):m.15071T>C rs199999794
NC_012920.1(MT-CYB):m.15777G>A rs879182710
NC_012920.1(MT-CYB):m.5553T>C rs878853053
NC_012920.1(MT-CYB):m.8348A>G
NC_012920.1(MT-ND1):m.3796A>T rs28357970
NC_012920.1(MT-ND1):m.3849G>A rs878853081
NC_012920.1(MT-ND1):m.4219G>A rs878853008
NC_012920.1(MT-ND3):m.10084T>C rs41487950
NC_012920.1(MT-ND3):m.10321T>C rs193302928
NC_012920.1(MT-ND5):m.12346C>T rs200279497
NC_012920.1(MT-ND5):m.14000T>A rs28359185
NC_012920.1(MT-ND5):m.14002A>G rs386829198
NC_012920.1(MT-ND6):m.14393A>G rs878853104
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NC_012920.1:m.7472A>T rs1556423293
NC_012920.1:m.8527A>G rs878853003
NM_000016.5(ACADM):c.*39G>A rs17848065
NM_000016.5(ACADM):c.-34T>C rs59932454
NM_000016.5(ACADM):c.1161A>G (p.Val387=) rs1061337
NM_000016.5(ACADM):c.118+18T>A rs755405418
NM_000016.5(ACADM):c.216+10T>C rs2275378
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000017.4(ACADS):c.*5G>A rs2229533
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=) rs35501596
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178
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.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.194C>T (p.Pro65Leu) rs28934585
NM_000018.4(ACADVL):c.478-22_478-21del rs60400822
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179
NM_000018.4(ACADVL):c.663C>T (p.Ser221=) rs144255994
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-15C>G rs113348145
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.2(ACVRL1):c.1246+9C>T rs115378744
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) rs139008591
NM_000020.2(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.2(ACVRL1):c.993C>T (p.Phe331=) rs56379428
NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.4(PSEN1):c.1248+8T>C rs362382
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
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.390G>A (p.Val130=) rs61737144
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_000022.4(ADA):c.95+9A>G rs765216
NM_000023.4(SGCA):c.-8G>A rs149296410
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000023.4(SGCA):c.37+23G>A rs79410682
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.4(ADSL):c.27G>T (p.Ser9=) rs146873132
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.567C>T (p.Val189=) rs765353500
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
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.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) rs150494562
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) rs140584437
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441
NM_000032.5(ALAS2):c.824-15C>T rs727467
NM_000032.5(ALAS2):c.828C>T (p.Cys276=) rs73214617
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008
NM_000035.4(ALDOB):c.324+8C>G rs118168553
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000036.2(AMPD1):c.433G>A (p.Val145Met) rs61741025
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061
NM_000037.4(ANK1):c.5544+91C>T rs72638959
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313
NM_000038.5(APC):c.-30358G>T rs182500056
NM_000038.5(APC):c.-30407C>T rs115658307
NM_000038.6(APC):c.*248A>G rs186777258
NM_000038.6(APC):c.-16C>T rs371665872
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.6(APC):c.1050T>G (p.Ser350=) rs760345157
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1313-9A>G rs368494354
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.6(APC):c.1443G>A (p.Val481=) rs146179851
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599
NM_000038.6(APC):c.1548+17T>C rs367690523
NM_000038.6(APC):c.1554G>A (p.Thr518=) rs546568052
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116
NM_000038.6(APC):c.1713A>G (p.Ala571=) rs529306174
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.6(APC):c.1958+10G>T rs375175370
NM_000038.6(APC):c.1958+8T>C rs62626346
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.2031C>T (p.Val677=) rs769363082
NM_000038.6(APC):c.220+124C>G rs76552546
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.2277C>T (p.Ala759=) rs762441650
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264
NM_000038.6(APC):c.2568C>T (p.Arg856=) rs751433216
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247
NM_000038.6(APC):c.259C>T (p.Leu87=) rs569640184
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.2778T>C (p.Ser926=) rs371526966
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.2838A>G (p.Thr946=) rs142835322
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.3006C>T (p.Ala1002=) rs72541810
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287
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.3264G>A (p.Lys1088=) rs114774495
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.3471G>A (p.Glu1157=) rs143927847
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.3624C>T (p.Thr1208=) rs730882125
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr) rs148223181
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334
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.3963C>T (p.Ser1321=) rs150595875
NM_000038.6(APC):c.4074G>A (p.Ala1358=) rs149782464
NM_000038.6(APC):c.4134G>A (p.Gln1378=) rs780368623
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085
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.4893T>C (p.Ser1631=) rs35634377
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.6(APC):c.5025T>G (p.Val1675=) rs876658169
NM_000038.6(APC):c.5250C>G (p.Val1750=) rs2229997
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.6(APC):c.5268T>A (p.Ser1756=) rs866006
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.6(APC):c.5298T>C (p.Asp1766=) rs781533317
NM_000038.6(APC):c.532-32T>C rs112108777
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.573T>C (p.Tyr191=) rs185154886
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6135C>T (p.Ser2045=) rs187297940
NM_000038.6(APC):c.6219T>G (p.Gly2073=) rs766559927
NM_000038.6(APC):c.6354_6356TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760
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.6669A>G (p.Ser2223=) rs372680843
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.6921G>A (p.Ser2307=) rs2229993
NM_000038.6(APC):c.6948A>G (p.Pro2316=) rs202144406
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493
NM_000038.6(APC):c.7020C>T (p.Asn2340=) rs773108684
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.6(APC):c.7095A>G (p.Ser2365=) rs747844776
NM_000038.6(APC):c.7137C>G (p.Thr2379=) rs141454910
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994
NM_000038.6(APC):c.7395T>C (p.Leu2465=) rs369906346
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.756C>T (p.Thr252=) rs771535363
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160
NM_000038.6(APC):c.7731A>G (p.Ser2577=) rs537187449
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys) rs543396310
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331
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.7929A>G (p.Leu2643=) rs138796072
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068
NM_000038.6(APC):c.8061A>G (p.Ser2687=) rs746180965
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841
NM_000038.6(APC):c.835-3T>C rs372090940
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000038.6(APC):c.933+30A>G rs145211300
NM_000039.2(APOA1):c.181G>A (p.Ala61Thr) rs12718465
NM_000039.2(APOA1):c.732C>G (p.Pro244=) rs5080
NM_000043.6(FAS):c.-34A>G rs5030766
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322
NM_000044.6(AR):c.1370_1372GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.171_173GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.912C>T (p.Phe304=) rs373480378
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000047.2(ARSL):c.467G>A (p.Ser156Asn) rs41310272
NM_000047.2(ARSL):c.775C>G (p.His259Asp) rs138149353
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164
NM_000048.4(ASL):c.183C>T (p.Asp61=) rs73374672
NM_000048.4(ASL):c.309G>A (p.Thr103=) rs142448820
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878
NM_000048.4(ASL):c.602+13C>T rs12536292
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.718+14A>T rs117035302
NM_000048.4(ASL):c.927G>T (p.Gly309=) rs151294789
NM_000049.3(ASPA):c.245T>C (p.Met82Thr) rs80099330
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1236-3del rs34325032
NM_000051.3(ATM):c.1236-3dup rs34325032
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1608-19G>T rs773158102
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1887C>T (p.Ser629=) rs143097772
NM_000051.3(ATM):c.1953A>G (p.Leu651=) rs730881283
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.198A>G (p.Lys66=) rs540920248
NM_000051.3(ATM):c.2019G>A (p.Lys673=) rs786203021
NM_000051.3(ATM):c.2040C>T (p.Phe680=) rs587780855
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.2187C>T (p.Tyr729=) rs373430058
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
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.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2376+20G>C rs140364468
NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.3(ATM):c.2466+7A>G rs55812024
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2577C>T (p.Asn859=) rs730881286
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2610C>T (p.Asn870=) rs587780618
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) rs370269552
NM_000051.3(ATM):c.2685A>G (p.Leu895=) rs3218687
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2838+9C>G rs370160823
NM_000051.3(ATM):c.2839-18dup rs730881287
NM_000051.3(ATM):c.2922-8del rs373881770
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.2967T>C (p.Thr989=) rs144145128
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3150T>C (p.Leu1050=) rs3092859
NM_000051.3(ATM):c.3153+20T>C rs200786429
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.3285-15C>T rs770928986
NM_000051.3(ATM):c.3285-9del rs1799757
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3402+17T>C rs3092825
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.3577-12del rs730881288
NM_000051.3(ATM):c.3577-13T>C rs587780856
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.4050G>A (p.Thr1350=) rs770697446
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4146A>G (p.Pro1382=) rs147738621
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4236+11A>G rs368684533
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
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.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.496+18T>A rs762171014
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.497-4dup rs768748099
NM_000051.3(ATM):c.4980C>T (p.Asn1660=) rs144338238
NM_000051.3(ATM):c.5005+15T>A rs377355762
NM_000051.3(ATM):c.5005+7_5005+8del rs587780626
NM_000051.3(ATM):c.5005+9C>T rs730881291
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5550A>G (p.Leu1850=) rs35850088
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln) rs370680798
NM_000051.3(ATM):c.5793T>C (p.Ala1931=) rs3092910
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.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6095+15T>C rs3212321
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6108T>C (p.Tyr2036=) rs3092826
NM_000051.3(ATM):c.6114C>T (p.His2038=) rs774993357
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.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6347+31del rs58978479
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.6572+12G>T rs3218677
NM_000051.3(ATM):c.6573-41del
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.6681C>T (p.Arg2227=) rs775850434
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.6975+13del rs763287238
NM_000051.3(ATM):c.6975+13dup rs763287238
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000051.3(ATM):c.7038A>T (p.Ala2346=) rs146167034
NM_000051.3(ATM):c.7044G>A (p.Thr2348=) rs140104789
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7224G>A (p.Ser2408=) rs145747513
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
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.7515+20A>G rs80124497
NM_000051.3(ATM):c.7629+13G>A rs563651647
NM_000051.3(ATM):c.7630-17T>C rs116047570
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7927+10T>C rs730881277
NM_000051.3(ATM):c.7927+13dup rs587781324
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.7983T>C (p.Asp2661=) rs143972422
NM_000051.3(ATM):c.8151+11C>T rs555381912
NM_000051.3(ATM):c.8269-14A>T rs114320959
NM_000051.3(ATM):c.8418+13C>T rs372552946
NM_000051.3(ATM):c.8419-19A>G rs12279930
NM_000051.3(ATM):c.8532T>C (p.Ile2844=) rs730881278
NM_000051.3(ATM):c.8584+10T>C rs373321041
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.861T>C (p.Ile287=) rs55849405
NM_000051.3(ATM):c.8629T>C (p.Leu2877=) rs730881279
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8730C>G (p.Leu2910=) rs551041839
NM_000051.3(ATM):c.876G>A (p.Pro292=) rs755860432
NM_000051.3(ATM):c.8786+20G>C rs56283878
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8922G>A (p.Pro2974=) rs527248759
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.3(ATM):c.9006C>T (p.Phe3002=) rs540172506
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.7(ATP7A):c.3801+6T>C rs181665434
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
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.1878C>T (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2866-13G>C rs7325983
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
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.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
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.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000054.6(AVPR2):c.12G>A (p.Ala4=) rs61748993
NM_000054.6(AVPR2):c.189T>C (p.Ala63=) rs140156037
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000054.6(AVPR2):c.754C>T (p.Arg252Trp) rs61733407
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) rs1803274
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) rs16849700
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009
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.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2075-12G>T rs28385027
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2555+7T>C rs3815003
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
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.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000059.3(BRCA2):c.*14C>T rs373436334
NM_000059.3(BRCA2):c.*295C>G rs11571834
NM_000059.3(BRCA2):c.*390A>G rs56003538
NM_000059.3(BRCA2):c.*397C>A rs11571835
NM_000059.3(BRCA2):c.*841A>G rs186619625
NM_000059.3(BRCA2):c.*842A>G rs192347116
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-15A>C rs138705202
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.3(BRCA2):c.-39-5del rs276174800
NM_000059.3(BRCA2):c.-59_-57del rs545321666
NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.3(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs) rs1064792995
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.10153C>T (p.Arg3385Cys) rs397507261
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.10203G>A (p.Thr3401=) rs147854265
NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402
NM_000059.3(BRCA2):c.1022G>T (p.Cys341Phe) rs80358403
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1059A>G (p.Ser353=) rs730881585
NM_000059.3(BRCA2):c.1074G>T (p.Val358=) rs276174805
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408
NM_000059.3(BRCA2):c.1124C>T (p.Pro375Leu) rs80358409
NM_000059.3(BRCA2):c.1125C>T (p.Pro375=) rs276174806
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.1176C>T (p.Ala392=) rs863224274
NM_000059.3(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.3(BRCA2):c.1218C>G (p.Ala406=) rs276174807
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.1272A>G (p.Ser424=) rs587780531
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422
NM_000059.3(BRCA2):c.1359A>T (p.Pro453=) rs730881586
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) rs55919657
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.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.1584C>T (p.Asn528=) rs730881587
NM_000059.3(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448
NM_000059.3(BRCA2):c.1644G>A (p.Gln548=) rs55986646
NM_000059.3(BRCA2):c.1647G>A (p.Lys549=) rs276174812
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.1749G>A (p.Leu583=) rs780324598
NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.3(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.3(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.3(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467
NM_000059.3(BRCA2):c.1814T>C (p.Ile605Thr) rs80358468
NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) rs76844014
NM_000059.3(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656
NM_000059.3(BRCA2):c.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.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.2094A>G (p.Leu698=) rs28897714
NM_000059.3(BRCA2):c.2109C>T (p.Thr703=) rs762499878
NM_000059.3(BRCA2):c.2127G>C (p.Leu709=) rs554040246
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2145A>G (p.Gly715=) rs112566179
NM_000059.3(BRCA2):c.2208A>G (p.Ala736=) rs144984153
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.231T>G (p.Thr77=) rs114446594
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.2391G>A (p.Lys797=) rs587776462
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.3(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.3(BRCA2):c.2484T>C (p.Tyr828=) rs45619134
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2538A>G (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521
NM_000059.3(BRCA2):c.2601T>G (p.Thr867=) rs730881589
NM_000059.3(BRCA2):c.2667T>C (p.Asn889=) rs587782469
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.2739C>T (p.Asp913=) rs276174829
NM_000059.3(BRCA2):c.2751A>G (p.Val917=) rs765644162
NM_000059.3(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
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.2817C>T (p.Thr939=) rs367921107
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.2926T>A (p.Ser976Thr) rs144862123
NM_000059.3(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2927C>T (p.Ser976Phe) rs11571656
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.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550
NM_000059.3(BRCA2):c.3156A>C (p.Ala1052=) rs797044975
NM_000059.3(BRCA2):c.316+108A>G rs115376548
NM_000059.3(BRCA2):c.316+12A>G rs186419778
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.3417G>A (p.Lys1139=) rs145625991
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3462C>T (p.Thr1154=) rs4986856
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.3516G>A (p.Ser1172=) rs1799952
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.3675A>G (p.Thr1225=) rs276174835
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.3793T>A (p.Cys1265Ser) rs797044976
NM_000059.3(BRCA2):c.3807T>G (p.Val1269=) rs543304
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.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.3874C>T (p.Leu1292=) rs587780867
NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636
NM_000059.3(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4062G>A (p.Thr1354=) rs768735660
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) rs140556653
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.4179G>A (p.Ala1393=) rs770531115
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.425+33A>G rs200065709
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.426-37T>A rs81002859
NM_000059.3(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664
NM_000059.3(BRCA2):c.4299G>A (p.Gly1433=) rs1555283699
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.433_435del rs80359442
NM_000059.3(BRCA2):c.4359A>G (p.Lys1453=) rs774446640
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.4563A>C (p.Leu1521=) rs206075
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.4656T>C (p.Gly1552=) rs41293491
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.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) rs750813972
NM_000059.3(BRCA2):c.4718G>A (p.Cys1573Tyr) rs56249050
NM_000059.3(BRCA2):c.476-9dup 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.4977C>T (p.Ser1659=) rs45484897
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+14C>T rs182828913
NM_000059.3(BRCA2):c.516+17G>T rs765435155
NM_000059.3(BRCA2):c.516+21A>T rs11571622
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.5199C>T (p.Ser1733=) rs28897734
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.5298T>C (p.Asn1766=) rs276174856
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.534A>G (p.Lys178=) rs28897703
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.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5474C>T (p.Ala1825Val) rs397507352
NM_000059.3(BRCA2):c.5529A>C (p.Ala1843=) rs372951842
NM_000059.3(BRCA2):c.5529A>T (p.Ala1843=) rs372951842
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5631C>T (p.Asn1877=) rs374326934
NM_000059.3(BRCA2):c.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.5688A>G (p.Ala1896=) rs768907899
NM_000059.3(BRCA2):c.5700A>G (p.Ser1900=) rs730881591
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.5785A>G (p.Ile1929Val) rs79538375
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.5976A>G (p.Ser1992=) rs748854546
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.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.6078A>G (p.Thr2026=) rs375649375
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
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.627C>T (p.Leu209=) rs28897704
NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.3(BRCA2):c.631+25C>T rs367871824
NM_000059.3(BRCA2):c.631+43G>T rs276174869
NM_000059.3(BRCA2):c.631+541T>C rs115974024
NM_000059.3(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.3(BRCA2):c.632-16A>C rs81002905
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.6347A>G (p.His2116Arg) rs55953736
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.6465C>T (p.Leu2155=) rs746099644
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.6531T>A (p.Ile2177=) rs587780658
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.6675A>G (p.Thr2225=) rs28897741
NM_000059.3(BRCA2):c.67+16A>G rs529148674
NM_000059.3(BRCA2):c.67+17T>C rs767648965
NM_000059.3(BRCA2):c.67+19T>C rs587780865
NM_000059.3(BRCA2):c.67+4T>C rs373546450
NM_000059.3(BRCA2):c.67+62T>G rs11571574
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.68-7dup rs276174878
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
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+11A>G rs730881592
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.6921A>G (p.Ser2307=) rs181183366
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.6938-25_6938-19del rs762815401
NM_000059.3(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.3(BRCA2):c.6960G>A (p.Leu2320=) rs373134168
NM_000059.3(BRCA2):c.7007+273G>A rs11571681
NM_000059.3(BRCA2):c.7008-20_7008-17del rs276174887
NM_000059.3(BRCA2):c.7008-24_7008-23del rs753029909
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7050C>T (p.Thr2350=) rs587780870
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.7137A>G (p.Gly2379=) rs730881593
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.7224A>G (p.Pro2408=) rs276174891
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7239A>G (p.Lys2413=) rs763727386
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.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.7415A>C (p.Lys2472Thr) rs80358963
NM_000059.3(BRCA2):c.741C>T (p.Ile247=) rs276174892
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.7506C>T (p.Arg2502=) rs140693106
NM_000059.3(BRCA2):c.750G>A (p.Val250=) rs143214959
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.7617+39G>A rs190660894
NM_000059.3(BRCA2):c.7618-19G>T rs371417084
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.7881C>A (p.Ile2627=) rs1555286843
NM_000059.3(BRCA2):c.7916C>T (p.Pro2639Leu) rs774723315
NM_000059.3(BRCA2):c.794-11T>C rs81002822
NM_000059.3(BRCA2):c.7941A>C (p.Leu2647=) rs276174898
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7976+23C>T rs183623188
NM_000059.3(BRCA2):c.7976+45G>C rs11571718
NM_000059.3(BRCA2):c.7977-14G>A rs879255467
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.8010G>A (p.Ser2670=) rs146430937
NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038
NM_000059.3(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051
NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055
NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) rs587780662
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8182G>C (p.Val2728Leu) rs28897749
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.8298A>G (p.Thr2766=) rs730881594
NM_000059.3(BRCA2):c.8308G>A (p.Ala2770Thr) rs397507974
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.3(BRCA2):c.8331+109G>A rs11571719
NM_000059.3(BRCA2):c.8331+16C>G rs730881595
NM_000059.3(BRCA2):c.8332-6G>T rs587780872
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.8421G>A (p.Ser2807=) rs371278843
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.8488-108C>T rs11571745
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
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+132dup rs201392123
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.8633-26A>G rs56268579
NM_000059.3(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123
NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) rs80359128
NM_000059.3(BRCA2):c.8694G>A (p.Leu2898=) rs556762256
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8755-17A>G rs431825370
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
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.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.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.9256+13A>G rs730881597
NM_000059.3(BRCA2):c.9257-10dup rs276174919
NM_000059.3(BRCA2):c.9257-113T>G rs191553604
NM_000059.3(BRCA2):c.9257-143T>A rs80220521
NM_000059.3(BRCA2):c.9257-15T>C rs1135401940
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.9411T>G (p.Thr3137=) rs1799968
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>C rs81002803
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.9606G>C (p.Pro3202=) rs755890067
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.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9649-20C>T rs56177715
NM_000059.3(BRCA2):c.9649-243T>G rs11571827
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9738C>A (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9837A>G (p.Leu3279=) rs730881598
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.9864A>G (p.Thr3288=) rs778401681
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9876G>A (p.Pro3292=) rs369047997
NM_000059.3(BRCA2):c.987G>A (p.Arg329=) rs561002197
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.9949C>T (p.Leu3317=) rs777488349
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.1909-9T>C rs782702231
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)
NM_000062.2(SERPING1):c.1218C>T (p.Ser406=) rs11229070
NM_000062.2(SERPING1):c.167T>C (p.Val56Ala) rs11546660
NM_000062.2(SERPING1):c.468C>T (p.Ala156=) rs150601964
NM_000062.2(SERPING1):c.686-9T>C rs141593943
NM_000062.2(SERPING1):c.751C>T (p.Leu251=) rs35788383
NM_000062.2(SERPING1):c.849C>T (p.Ser283=) rs143760635
NM_000063.6(C2):c.1023G>A (p.Ala341=) rs1042663
NM_000063.6(C2):c.1902+6G>C rs9332730
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.4457-5C>T rs344554
NM_000064.4(C3):c.4631-9C>T rs116302413
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200
NM_000065.4(C6):c.542C>T (p.Thr181Ile) rs114609505
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000068.4(CACNA1A):c.2980_2985GAGGGC[4] (p.994_995EG[4]) rs764399373
NM_000069.3(CACNA1S):c.-83C>T rs116071603
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.399-14C>T rs116534514
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366
NM_000070.3(CAPN3):c.1355-6G>A rs28364485
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2264-11C>T rs28364537
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1632C>T (p.Ala544=) rs566810122
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.33G>A (p.Gly11=) rs567323664
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.829-91G>A
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000073.2(CD3G):c.-46_-43delGCTG rs60810919
NM_000073.2(CD3G):c.390T>C (p.Ala130=) rs3753059
NM_000073.2(CD3G):c.391G>T (p.Val131Phe) rs3753058
NM_000074.2(CD40LG):c.-191A>C rs36206512
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.522+8G>A rs758294834
NM_000075.4(CDK4):c.523-4T>A rs587780667
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237
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_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622
NM_000075.4(CDK4):c.813G>A (p.Leu271=) rs1487727732
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000076.2(CDKN1C):c.353C>T (p.Pro118Leu) rs771731330
NM_000076.2(CDKN1C):c.528G>C (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.549_554del rs878853629
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.600_605del (p.197_198AP[9]) rs1060503860
NM_000076.2(CDKN1C):c.624_629del rs759134767
NM_000076.2(CDKN1C):c.669C>T (p.Ser223=) rs540923047
NM_000076.2(CDKN1C):c.708G>A (p.Glu236=) rs3741341
NM_000077.4(CDKN2A):c.*6C>G rs375628411
NM_000077.4(CDKN2A):c.-14C>T rs764244718
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.-2G>A rs191394143
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.151-14G>A rs767030551
NM_000077.4(CDKN2A):c.151-4G>C rs529380972
NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.4(CDKN2A):c.174A>C (p.Arg58=) rs201208890
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.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.384G>A (p.Arg128=) rs199901898
NM_000077.4(CDKN2A):c.405G>A (p.Gly135=) rs751586391
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000077.4(CDKN2A):c.51C>A (p.Ala17=) rs764362225
NM_000078.3(CETP):c.1161C>T (p.Thr387=) rs7192120
NM_000078.3(CETP):c.460C>T (p.Arg154Trp) rs34716057
NM_000078.3(CETP):c.534G>A (p.Gly178=) rs34611098
NM_000078.3(CETP):c.66C>A (p.Thr22=) rs5884
NM_000080.4(CHRNE):c.-8G>A rs77481135
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383
NM_000080.4(CHRNE):c.1033-6C>T rs2075763
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu) rs192195094
NM_000080.4(CHRNE):c.1220-45C>T rs75492003
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207
NM_000080.4(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) rs4647130
NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) rs61754098
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054
NM_000083.3(CLCN1):c.1797-9C>T rs41276057
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000085.4(CLCNKB):c.1409-6T>C rs115910575
NM_000085.4(CLCNKB):c.171G>A (p.Gly57=) rs150723240
NM_000085.4(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847
NM_000085.4(CLCNKB):c.258G>A (p.Gly86=) rs143339401
NM_000085.4(CLCNKB):c.577-5C>T rs1889788
NM_000086.2(CLN3):c.1197+8T>C rs587780895
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000086.2(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_000086.2(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_000086.2(CLN3):c.174C>T (p.Ala58=) rs138433617
NM_000086.2(CLN3):c.240G>A (p.Thr80=) rs373911322
NM_000086.2(CLN3):c.264A>C (p.Ser88=) rs751321507
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_000086.2(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_000086.2(CLN3):c.677+8G>A rs368568189
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000086.2(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1587C>T (p.Pro529=) rs113437353
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1983+9G>T rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2115C>T (p.Asn705=) rs41316673
NM_000088.3(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2298T>C (p.Thr766=) rs2734272
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2613+14G>A rs41316685
NM_000088.3(COL1A1):c.2668-12A>G rs200355573
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.3978C>T (p.Phe1326=)
NM_000088.3(COL1A1):c.3993C>T (p.Thr1331=)
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.612C>T (p.Pro204=) rs138078016
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000088.3(COL1A1):c.999C>T (p.Pro333=) rs62637627
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.1036-14G>A rs114322680
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.2349+16G>C rs112603291
NM_000089.3(COL1A2):c.2400C>T (p.Pro800=) rs139913150
NM_000089.3(COL1A2):c.2700C>T (p.Ala900=) rs141688356
NM_000089.3(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3585T>C (p.Cys1195=) rs1800253
NM_000089.3(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220
NM_000089.3(COL1A2):c.3712-13C>T rs74335369
NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) rs34038163
NM_000089.3(COL1A2):c.48C>T (p.Thr16=) rs780687409
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.70+719_70+720del
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000089.3(COL1A2):c.96+10C>T rs185341110
NM_000089.3(COL1A2):c.981C>T (p.Arg327=) rs141762645
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1476A>C (p.Gly492=) rs111683983
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1816-19T>C rs114299724
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3202-14del rs767971610
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3525+19del rs138061246
NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) rs146837092
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.3(COL3A1):c.4011+34A>G rs41265549
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.799-6del rs767927599
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.4(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.4(COL4A3):c.1398T>C (p.Asp466=) rs145833114
NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.4(COL4A3):c.1576-15T>G rs56243460
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.4(COL4A3):c.2886C>T (p.Phe962=) rs77846212
NM_000091.4(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408
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.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865
NM_000091.4(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.4(COL4A3):c.4380T>C (p.Cys1460=) rs114430490
NM_000091.4(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.4707A>T (p.Pro1569=) rs113401495
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.547-9A>C rs55667591
NM_000091.4(COL4A3):c.766-13G>A rs77431913
NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.4(COL4A3):c.88-4C>T rs148393022
NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)
NM_000092.4(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.4(COL4A4):c.1353C>T (p.Gly451=) rs199511948
NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2056+10A>G rs138869451
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2384-5T>C rs3769641
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.4(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3963T>C (p.Asp1321=) rs116124529
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
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.4656G>A (p.Met1552Ile) rs77104306
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.948T>C (p.Tyr316=) rs34509421
NM_000094.3(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473
NM_000094.3(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247
NM_000094.3(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883
NM_000094.3(COL7A1):c.5910C>T (p.Phe1970=) rs141290741
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.89C>T (p.Thr30Ile) rs74453879
NM_000095.3(COMP):c.*1G>C rs77185131
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) rs61739916
NM_000095.3(COMP):c.1488C>A (p.Asp496Glu) rs143714206
NM_000095.3(COMP):c.1755G>A (p.Thr585=) rs34467947
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000095.3(COMP):c.2227+8G>A rs116499541
NM_000095.3(COMP):c.2267A>G (p.Gln756Arg) rs61752496
NM_000095.3(COMP):c.279C>A (p.Pro93=) rs139319996
NM_000095.3(COMP):c.468G>T (p.Pro156=) rs202241721
NM_000095.3(COMP):c.511G>A (p.Ala171Thr) rs115338183
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025
NM_000097.7(CPOX):c.165C>T (p.Gly55=) rs563975822
NM_000097.7(CPOX):c.252G>A (p.Gly84=) rs376917019
NM_000097.7(CPOX):c.284A>G (p.His95Arg) rs192332456
NM_000097.7(CPOX):c.337C>T (p.Leu113=) rs146543713
NM_000097.7(CPOX):c.556+9G>A rs184983281
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.3(CPT2):c.1512G>T (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.1545C>T (p.Ala515=) rs201663642
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822
NM_000098.3(CPT2):c.511C>T (p.Leu171=) rs2229292
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350
NM_000100.3(CSTB):c.*7C>G rs201576714
NM_000100.3(CSTB):c.-54C>T rs59649299
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.54C>T (p.His18=) rs557717323
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys) rs114610092
NM_000103.4(CYP19A1):c.109T>C (p.Leu37=) rs58282176
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) rs2236722
NM_000103.4(CYP19A1):c.186C>T (p.His62=) rs60308277
NM_000103.4(CYP19A1):c.42C>G (p.Thr14=) rs61203654
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519
NM_000104.3(CYP1B1):c.-1-12C>T rs2617266
NM_000104.3(CYP1B1):c.1294= (p.Leu432=) rs1056836
NM_000104.3(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440
NM_000104.3(CYP1B1):c.564C>A (p.Gly188=) rs9341247
NM_000104.3(CYP1B1):c.729G>C (p.Val243=) rs9341249
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180
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.439-7T>C rs10263341
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000109.4(DMD):c.7+127827dup rs72470542
NM_000109.4(DMD):c.70-16dup rs3834997
NM_000109.4(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000109.4(DMD):c.9658T>C (p.Phe3220Leu) rs141392048
NM_000110.3(DPYD):c.1129-15T>C rs56293913
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.3(DPYD):c.1627A>G (p.Ile543Val) rs1801159
NM_000110.3(DPYD):c.1896T>C (p.Phe632=) rs17376848
NM_000110.3(DPYD):c.2194G>A (p.Val732Ile) rs1801160
NM_000110.3(DPYD):c.496A>G (p.Met166Val) rs2297595
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000111.2(SLC26A3):c.1529C>T (p.Thr510Met) rs60147601
NM_000111.2(SLC26A3):c.203G>A (p.Arg68Gln) rs10280704
NM_000111.2(SLC26A3):c.2258A>G (p.Asn753Ser) rs35342296
NM_000111.2(SLC26A3):c.241A>G (p.Ile81Val) rs116793431
NM_000111.2(SLC26A3):c.357C>A (p.Phe119Leu) rs73419912
NM_000111.2(SLC26A3):c.889-6T>C rs17154430
NM_000111.2(SLC26A3):c.996C>T (p.Asp332=) rs35576676
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1761C>T (p.Leu587=) rs745590895
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312
NM_000112.3(SLC26A2):c.468C>T (p.Thr156=)
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000113.3(TOR1A):c.246C>T (p.Ala82=) rs2296793
NM_000113.3(TOR1A):c.26G>C (p.Gly9Ala) rs200493208
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000113.3(TOR1A):c.749-11C>A rs72755217
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAZ):c.542-20C>T rs373841640
NM_000116.5(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788
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.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000118.3(ENG):c.*190C>T rs181330955
NM_000118.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_000118.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_000118.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_000118.3(ENG):c.219+22C>T rs370257876
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_000119.3(EPB42):c.-51T>C rs16957499
NM_000119.3(EPB42):c.29C>T (p.Ser10Leu) rs77809780
NM_000119.3(EPB42):c.420G>A (p.Ala140=) rs1042168
NM_000119.3(EPB42):c.543T>C (p.Asn181=) rs114136713
NM_000119.3(EPB42):c.89G>A (p.Ser30Asn) rs149249456
NM_000119.3(EPB42):c.923-4A>G rs61343376
NM_000119.3(EPB42):c.984C>T (p.Thr328=) rs35719500
NM_000121.4(EPOR):c.1041G>A (p.Pro347=) rs138884102
NM_000121.4(EPOR):c.137G>A (p.Gly46Glu) rs45516306
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773
NM_000121.4(EPOR):c.168G>T (p.Arg56=) rs35977803
NM_000121.4(EPOR):c.24C>T (p.Leu8=) rs577368929
NM_000121.4(EPOR):c.438C>T (p.Asp146=) rs114645751
NM_000121.4(EPOR):c.657C>A (p.Ala219=) rs61729384
NM_000122.1(ERCC3):c.1027+3A>G rs4150417
NM_000122.1(ERCC3):c.1119G>A (p.Gln373=) rs2228544
NM_000122.1(ERCC3):c.1485G>A (p.Glu495=) rs4150456
NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1440C>T (p.His480=) rs4150316
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870
NM_000123.3(ERCC5):c.2100C>A (p.Leu700=) rs2228959
NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.3177C>T (p.Gly1059=) rs148856875
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.3(ERCC5):c.640C>T (p.Arg214Cys) rs56255799
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.3659C>T (p.Thr1220Ile) rs34704611
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000126.4(ETFA):c.186+7A>G rs184587113
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591
NM_000127.2(EXT1):c.114A>G (p.Glu38=) rs17506447
NM_000127.2(EXT1):c.1536+7G>A rs200128437
NM_000127.2(EXT1):c.1782G>A (p.Ala594=) rs61753261
NM_000127.2(EXT1):c.1959G>A (p.Glu653=) rs142710059
NM_000128.3(F11):c.1016G>T (p.Cys339Phe) rs5967
NM_000128.3(F11):c.1305-9G>T rs4253426
NM_000128.3(F11):c.1812G>T (p.Arg604=) rs5971
NM_000128.3(F11):c.1839G>A (p.Glu613=) rs5976
NM_000128.3(F11):c.429C>T (p.Asp143=) rs5973
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) rs5985
NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) rs5982
NM_000129.3(F13A1):c.1704A>G (p.Glu568=) rs5986
NM_000129.3(F13A1):c.1951G>A (p.Val651Ile) rs5987
NM_000129.3(F13A1):c.1954G>C (p.Glu652Gln) rs5988
NM_000129.3(F13A1):c.996A>C (p.Pro332=) rs5981
NM_000130.4(F5):c.1238T>C (p.Met413Thr) rs6033
NM_000130.4(F5):c.1242A>G (p.Lys414=) rs6035
NM_000130.4(F5):c.1380C>T (p.Asn460=) rs6015
NM_000130.4(F5):c.1716G>A (p.Glu572=) rs6036
NM_000130.4(F5):c.1926C>A (p.Thr642=) rs6037
NM_000130.4(F5):c.2208C>T (p.Ile736=) rs6016
NM_000130.4(F5):c.2235T>C (p.Asn745=) rs6017
NM_000130.4(F5):c.2289A>G (p.Glu763=) rs6024
NM_000130.4(F5):c.2301A>G (p.Ser767=) rs6021
NM_000130.4(F5):c.237A>G (p.Gln79=) rs6028
NM_000130.4(F5):c.2425C>T (p.Pro809Ser) rs6031
NM_000130.4(F5):c.2450A>C (p.Asn817Thr) rs6018
NM_000130.4(F5):c.2573A>G (p.Lys858Arg) rs4524
NM_000130.4(F5):c.2594A>G (p.His865Arg) rs4525
NM_000130.4(F5):c.2773A>G (p.Lys925Glu) rs6032
NM_000130.4(F5):c.319G>C (p.Asp107His) rs6019
NM_000130.4(F5):c.3438C>G (p.His1146Gln) rs6005
NM_000130.4(F5):c.3504A>C (p.Thr1168=) rs13306332
NM_000130.4(F5):c.3804T>C (p.Ser1268=) rs1800594
NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) rs1046712
NM_000130.4(F5):c.3948C>T (p.Leu1316=) rs9287090
NM_000130.4(F5):c.3980A>G (p.His1327Arg) rs1800595
NM_000130.4(F5):c.405G>A (p.Ala135=) rs6029
NM_000130.4(F5):c.4095C>T (p.Thr1365=) rs9332607
NM_000130.4(F5):c.43G>A (p.Gly15Ser) rs9332485
NM_000130.4(F5):c.5290A>G (p.Met1764Val) rs6030
NM_000130.4(F5):c.5419+12A>G rs6009
NM_000130.4(F5):c.5460G>A (p.Met1820Ile) rs6026
NM_000130.4(F5):c.552G>T (p.Ser184=) rs6022
NM_000130.4(F5):c.6309G>A (p.Leu2103=) rs35369423
NM_000130.4(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000130.4(F5):c.6665A>G (p.Asp2222Gly) rs6027
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.4(F5):c.816C>T (p.Asn272=) rs9332578
NM_000131.4(F7):c.108G>A (p.Pro36=) rs3093238
NM_000131.4(F7):c.64+8C>T rs10482844
NM_000131.4(F7):c.806-10T>C rs3093266
NM_000132.3(F8):c.*29C>T rs5986887
NM_000132.3(F8):c.102C>T (p.Asp34=) rs1800283
NM_000132.3(F8):c.1086G>A (p.Ala362=) rs1800289
NM_000132.3(F8):c.1508G>A (p.Arg503His) rs35383156
NM_000132.3(F8):c.1866T>C (p.Leu622=)
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.389-9C>T rs35621875
NM_000132.3(F8):c.4500G>A (p.Pro1500=) rs33921347
NM_000133.3(F9):c.108C>T (p.Asn36=) rs184837275
NM_000133.3(F9):c.1095A>G (p.Ser365=) rs112057482
NM_000133.3(F9):c.1110G>A (p.Gln370=) rs34698779
NM_000133.3(F9):c.1381A>C (p.Thr461Pro) rs4149751
NM_000133.3(F9):c.19A>T (p.Ile7Phe) rs150190385
NM_000133.3(F9):c.391+10T>G rs375734226
NM_000133.3(F9):c.658T>A (p.Ser220Thr) rs777361659
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000133.3(F9):c.819T>C (p.Val273=) rs1800455
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
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.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3348+18A>G rs1800347
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
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.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.-29A>C rs4647414
NM_000136.3(FANCC):c.-79+5G>A rs4647350
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286
NM_000136.3(FANCC):c.1330-3C>T rs4647542
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080
NM_000136.3(FANCC):c.15A>G (p.Ser5=) rs778408360
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.468A>G (p.Ser156=) rs148616725
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473
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.672C>T (p.Asn224=) rs150647141
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189
NM_000137.3(FAH):c.1056C>T (p.Ser352=) rs1801374
NM_000137.3(FAH):c.1098G>A (p.Ser366=) rs35033541
NM_000137.3(FAH):c.1180+4A>G rs60585303
NM_000137.3(FAH):c.1209C>T (p.Ile403=) rs111345782
NM_000137.3(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000137.3(FAH):c.267G>C (p.Leu89=) rs33929922
NM_000137.3(FAH):c.455+9T>C rs531129429
NM_000137.3(FAH):c.553+10C>T rs201051426
NM_000137.3(FAH):c.855G>A (p.Pro285=) rs73481171
NM_000137.3(FAH):c.870C>T (p.Asp290=) rs377480457
NM_000137.3(FAH):c.921A>G (p.Gly307=) rs76338717
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.4(FBN1):c.1323A>G (p.Pro441=) rs202030761
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1530G>T (p.Ser510=) rs147511977
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.1837+9T>C rs56102085
NM_000138.4(FBN1):c.1838-6C>T rs374629233
NM_000138.4(FBN1):c.1960+30G>A rs25459
NM_000138.4(FBN1):c.2094G>T (p.Pro698=) rs144775475
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2420-8T>C rs140582
NM_000138.4(FBN1):c.2678-12T>C rs200368037
NM_000138.4(FBN1):c.2729-9del rs35314876
NM_000138.4(FBN1):c.2855-9C>T rs140590
NM_000138.4(FBN1):c.2892C>T (p.Asp964=) rs116945525
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
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.3069G>A (p.Lys1023=) rs199789628
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100
NM_000138.4(FBN1):c.3082+8del rs193922196
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450
NM_000138.4(FBN1):c.3589+11TTTTA[5] rs72158035
NM_000138.4(FBN1):c.3590-8T>C rs140600
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.3965-8T>C rs140637
NM_000138.4(FBN1):c.396T>C (p.Asp132=) rs147481356
NM_000138.4(FBN1):c.4210+10C>T rs200548889
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.4683C>T (p.Ser1561=) rs148024160
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
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.5065+10A>G rs375945405
NM_000138.4(FBN1):c.5097C>T (p.Tyr1699=) rs368979510
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.539-15del rs193922211
NM_000138.4(FBN1):c.5442C>T (p.Asn1814=) rs397515822
NM_000138.4(FBN1):c.5672-3T>C rs193922217
NM_000138.4(FBN1):c.5788+10C>A rs371560107
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.4(FBN1):c.6038-8T>A rs569460847
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372
NM_000138.4(FBN1):c.6288C>T (p.Cys2096=) rs144822241
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6837G>A (p.Gly2279=) rs140584234
NM_000138.4(FBN1):c.6852T>C (p.Pro2284=) rs201226058
NM_000138.4(FBN1):c.6942C>T (p.Tyr2314=) rs372967546
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.4(FBN1):c.75G>A (p.Ala25=) rs543230518
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.7950T>C (p.Asn2650=) rs143055643
NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.4(FBN1):c.8232G>A (p.Gln2744=) rs376119827
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.8385C>T (p.Ile2795=) rs138574576
NM_000138.4(FBN1):c.8445C>T (p.Leu2815=) rs142304692
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.514G>A (p.Glu172Lys) rs200650502
NM_000142.4(FGFR3):c.1023G>A (p.Ala341=)
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1290C>T (p.Ser430=) rs3135891
NM_000142.4(FGFR3):c.130G>A (p.Gly44Ser) rs146080119
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.4(FGFR3):c.169G>A (p.Val57Met) rs61735064
NM_000142.4(FGFR3):c.193G>A (p.Gly65Arg) rs2305178
NM_000142.4(FGFR3):c.1953A>G (p.Thr651=) rs7688609
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000142.4(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000142.4(FGFR3):c.2088C>T (p.Pro696=) rs142884145
NM_000142.4(FGFR3):c.2259C>T (p.Thr753=) rs146662137
NM_000142.4(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_000143.3(FH):c.-11C>T rs200942733
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.1077T>A (p.Pro359=) rs750535216
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1237-14_1237-9dup rs779985493
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.6C>T (p.Tyr2=) rs199971078
NM_000143.3(FH):c.702T>G (p.Thr234=) rs201083387
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000144.5(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000144.5(FXN):c.626A>G (p.Asp209Gly) rs74621026
NM_000145.3(FSHR):c.24G>T (p.Leu8Phe) rs115030945
NM_000145.3(FSHR):c.446+10T>C rs200504733
NM_000145.3(FSHR):c.485G>A (p.Arg162Lys) rs111883853
NM_000145.3(FSHR):c.603C>T (p.Ser201=) rs75552966
NM_000145.3(FSHR):c.786C>T (p.Val262=) rs150863050
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709
NM_000146.4(FTL):c.73C>T (p.Leu25=) rs201971200
NM_000147.4(FUCA1):c.-12T>C rs2070954
NM_000147.4(FUCA1):c.-86T>G rs2070953
NM_000147.4(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852
NM_000147.4(FUCA1):c.327G>A (p.Gln109=) rs61996281
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000151.4(G6PC):c.*3G>A rs191399793
NM_000151.4(G6PC):c.1002C>T (p.Pro334=) rs143991162
NM_000151.4(G6PC):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC):c.562+10G>A rs199505156
NM_000151.4(G6PC):c.694G>A (p.Val232Ile) rs145172999
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.*223C>T rs8132
NM_000152.5(GAA):c.*3G>A rs1800317
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1754+12G>A rs2304840
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2331+24T>C rs2304831
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064
NM_000153.4(GALC):c.195+19G>A rs189853941
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.564+15G>A rs111033732
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000156.6(GAMT):c.*11C>T rs149268921
NM_000156.6(GAMT):c.*146A>C rs659455
NM_000156.6(GAMT):c.225G>A (p.Ala75=) rs202151546
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886
NM_000156.6(GAMT):c.312A>G (p.Pro104=) rs779679242
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.600C>T (p.Ala200=) rs200679529
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
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_000157.4(GBA):c.1497G>C (p.Val499=) rs1135675
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.143+10G>T rs9820490
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170
NM_000159.4(GCDH):c.642G>A (p.Thr214=) rs142806397
NM_000159.4(GCDH):c.738G>A (p.Ser246=) rs188548539
NM_000161.3(GCH1):c.*12T>C rs190993883
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.211C>T (p.Leu71=) rs141883031
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000162.5(GCK):c.1019+18G>A rs150914617
NM_000162.5(GCK):c.1253+8C>T rs2908274
NM_000162.5(GCK):c.209-8G>A rs144798843
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035
NM_000162.5(GCK):c.363+10G>A rs758495950
NM_000162.5(GCK):c.364-18A>G rs191255582
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000162.5(GCK):c.483+14A>G rs74852379
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382
NM_000163.5(GHR):c.1098A>G (p.Leu366=) rs116466139
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182
NM_000163.5(GHR):c.1473C>T (p.Ser491=) rs6176
NM_000163.5(GHR):c.1483C>A (p.Pro495Thr) rs6183
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) rs6184
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177
NM_000163.5(GHR):c.785-9G>A rs34190075
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537
NM_000166.6(GJB1):c.-77G>A rs190676487
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.318A>G (p.Leu106=)
NM_000166.6(GJB1):c.441C>T (p.Ala147=)
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000167.5(GK):c.1095G>A (p.Ser365=) rs139652893
NM_000167.5(GK):c.730-5A>T rs186543786
NM_000168.6(GLI3):c.*30G>T rs77886553
NM_000168.6(GLI3):c.1029-11C>T rs116195563
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1243-40A>C rs77659679
NM_000168.6(GLI3):c.1357-17C>G rs190600888
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1647+13G>A rs149955824
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572
NM_000168.6(GLI3):c.363C>T (p.His121=) rs150295615
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414
NM_000168.6(GLI3):c.474-4C>T rs74536326
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911
NM_000169.2(GLA):c.-105A>G rs3027583
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
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_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1815C>T (p.Leu605=) rs74461075
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.319A>G (p.Met107Val) rs138454333
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.666T>C (p.Asp222=) rs12004164
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.871T>G (p.Cys291Gly) rs141014950
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1]) rs869060239
NM_000173.7(GP1BA):c.1311_1349del (p.415_427SEPAPSPTTPEPT[2]) rs770991996
NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2]) rs1259394995
NM_000174.4(GP9):c.132G>A (p.Thr44=) rs6069
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1764C>T (p.His588=) rs6194
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
NM_000178.4(GSS):c.816T>G (p.Pro272=) rs35051256
NM_000179.2(MSH6):c.*17G>A rs876661000
NM_000179.2(MSH6):c.-159C>T rs41540312
NM_000179.2(MSH6):c.-18G>T rs199913053
NM_000179.2(MSH6):c.-6G>T rs730881822
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
NM_000179.2(MSH6):c.102C>A (p.Ala34=) rs201132087
NM_000179.2(MSH6):c.102C>T (p.Ala34=) rs201132087
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.1164C>T (p.His388=) rs55708305
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1176T>C (p.Asp392=) rs587779912
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1403G>A (p.Arg468His) rs41295268
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1509C>T (p.Ser503=) rs545020313
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.1776A>T (p.Val592=) rs56132616
NM_000179.2(MSH6):c.178T>C (p.Leu60=) rs35819209
NM_000179.2(MSH6):c.1809G>A (p.Lys603=) rs876660790
NM_000179.2(MSH6):c.1869C>T (p.Pro623=) rs141242295
NM_000179.2(MSH6):c.186C>A (p.Arg62=) rs1042820
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.1917G>A (p.Glu639=) rs368059229
NM_000179.2(MSH6):c.194C>T (p.Ser65Leu) rs41294984
NM_000179.2(MSH6):c.2013G>A (p.Leu671=) rs765289515
NM_000179.2(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.2(MSH6):c.2239C>T (p.Leu747=) rs63751305
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.2(MSH6):c.2314C>A (p.Arg772=) rs63750138
NM_000179.2(MSH6):c.2319C>T (p.Leu773=) rs63749895
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.260+10T>G rs193922342
NM_000179.2(MSH6):c.261-14C>A rs369366445
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2724A>G (p.Glu908=) rs35389622
NM_000179.2(MSH6):c.276A>G (p.Pro92=) rs1800932
NM_000179.2(MSH6):c.2904C>G (p.Val968=) rs150683226
NM_000179.2(MSH6):c.2925C>T (p.Asn975=) rs139026662
NM_000179.2(MSH6):c.2940A>G (p.Glu980=) rs730881818
NM_000179.2(MSH6):c.3024C>T (p.Thr1008=) rs587780675
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.2(MSH6):c.3173-18T>A rs189672273
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.321T>C (p.Pro107=) rs730881823
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3246G>C (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3264C>T (p.Phe1088=) rs35621414
NM_000179.2(MSH6):c.3265T>C (p.Leu1089=) rs34490141
NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) rs540252208
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.333C>T (p.Tyr111=) rs786202772
NM_000179.2(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.2(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.2(MSH6):c.3399T>C (p.Thr1133=) rs61748084
NM_000179.2(MSH6):c.3438+11_3438+14del rs377746844
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3439-10T>A rs730881819
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3556+36_3556+39del rs55684722
NM_000179.2(MSH6):c.3557-17del rs778393939
NM_000179.2(MSH6):c.3557-3A>T rs41295274
NM_000179.2(MSH6):c.3557-40T>A rs189436849
NM_000179.2(MSH6):c.3557-4del rs267608102
NM_000179.2(MSH6):c.3557-4dup rs267608102
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.3647-6T>C rs182871847
NM_000179.2(MSH6):c.3675G>A (p.Thr1225=) rs730881820
NM_000179.2(MSH6):c.3729A>G (p.Thr1243=) rs773807182
NM_000179.2(MSH6):c.3801+14G>T rs755626529
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3852G>A (p.Thr1284=) rs2229018
NM_000179.2(MSH6):c.3852G>T (p.Thr1284=) rs2229018
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.393A>C (p.Val131=) rs752488540
NM_000179.2(MSH6):c.3960A>G (p.Ala1320=) rs373425206
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.2(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4002-10del rs59056100
NM_000179.2(MSH6):c.4002-14T>C rs587781041
NM_000179.2(MSH6):c.4002-19T>C rs730881821
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.2(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.2(MSH6):c.628-17C>A rs369971640
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
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.957G>A (p.Thr319=) rs375210430
NM_000179.2(MSH6):c.957G>C (p.Thr319=) rs375210430
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000180.3(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000180.3(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402
NM_000181.4(GUSB):c.-12G>A rs2279903
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840
NM_000182.5(HADHA):c.1392+10G>A rs60085478
NM_000182.5(HADHA):c.1620+11G>C rs112236946
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.5(HADHA):c.68-10T>G rs144414842
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.900C>T (p.Tyr300=) rs144093705
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240
NM_000186.3(CFH):c.1428A>G (p.Gln476=) rs34399588
NM_000186.3(CFH):c.1652T>C (p.Ile551Thr) rs35453854
NM_000186.3(CFH):c.1935G>T (p.Thr645=) rs56035657
NM_000186.3(CFH):c.2236+8T>A rs7537967
NM_000186.3(CFH):c.2634C>T (p.His878=) rs35292876
NM_000186.3(CFH):c.2637A>G (p.Gly879=) rs55752475
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.3050C>T (p.Thr1017Ile) rs34362004
NM_000186.3(CFH):c.3102T>C (p.Asn1034=) rs34594237
NM_000186.3(CFH):c.3133+8G>T rs142718541
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000186.3(CFH):c.477T>C (p.Ser159=) rs34940854
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905
NM_000187.4(HGD):c.142G>T (p.Ala48Ser) rs138846036
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000190.4(HMBS):c.210+5C>A rs79983883
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488
NM_000190.4(HMBS):c.717C>T (p.His239=) rs114025170
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000192.3(TBX5):c.114C>T (p.Ser38=) rs34014008
NM_000192.3(TBX5):c.1234G>A (p.Val412Ile) rs114124210
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) rs147710408
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.786C>T (p.Thr262=) rs375955080
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000192.3(TBX5):c.804C>G (p.Ala268=) rs35110399
NM_000192.3(TBX5):c.827G>A (p.Ser276Asn) rs147977741
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT rs886038270
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000195.5(HPS1):c.678C>T (p.Ala226=) rs539822608
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala) rs74154475
NM_000195.5(HPS1):c.987+13T>C rs12571249
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000199.5(SGSH):c.746-4A>G rs7218267
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487
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.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1403-14G>T rs368368416
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
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.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000204.4(CFI):c.1206C>T (p.Pro402=) rs115780371
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) rs61733901
NM_000204.4(CFI):c.1410T>C (p.Ser470=) rs200068862
NM_000204.4(CFI):c.1443C>T (p.Val481=) rs114091883
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000204.4(CFI):c.1581C>T (p.Gly527=) rs181378677
NM_000204.4(CFI):c.315A>T (p.Thr105=) rs61745205
NM_000206.2(IL2RG):c.325G>A (p.Glu109Lys) rs17875899
NM_000206.2(IL2RG):c.858G>A (p.Thr286=) rs148001866
NM_000206.2(IL2RG):c.92A>G (p.Asn31Ser) rs749977756
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740
NM_000207.3(INS):c.-9C>T rs5505
NM_000207.3(INS):c.188-10G>A rs41275198
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580
NM_000208.4(INSR):c.2682+9C>G rs41398545
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021
NM_000208.4(INSR):c.653-23TC[8] rs3835070
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598
NM_000209.4(PDX1):c.714_716GCC[6] (p.Pro244dup) rs193922357
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081
NM_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531
NM_000211.5(ITGB2):c.1893C>T (p.Cys631=) rs17004713
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330
NM_000211.5(ITGB2):c.28G>A (p.Ala10Thr) rs201802601
NM_000211.5(ITGB2):c.329-6C>T rs9983887
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812
NM_000211.5(ITGB2):c.499+7C>T rs17004715
NM_000211.5(ITGB2):c.742-13G>A rs5030670
NM_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671
NM_000212.2(ITGB3):c.-7G>C rs117052258
NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro) rs5918
NM_000212.2(ITGB3):c.2208C>T (p.Ala736=) rs73322311
NM_000212.2(ITGB3):c.342T>C (p.Ile114=) rs5920
NM_000212.2(ITGB3):c.40G>A (p.Val14Met) rs115600591
NM_000212.2(ITGB3):c.57G>T (p.Ala19=) rs534654534
NM_000212.2(ITGB3):c.58C>T (p.Leu20=) rs548495900
NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe) rs143203816
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.4709-3del rs56408237
NM_000213.5(ITGB4):c.4902C>G (p.Ser1634=) rs57812564
NM_000214.3(JAG1):c.1120+10A>G rs201711717
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1349-11T>G rs80338240
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
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.2301G>A (p.Thr767=) rs147634857
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.439+10G>A rs201371037
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000215.3(JAK3):c.1131C>T (p.His377=) rs55802448
NM_000215.3(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.297G>C (p.Leu99=) rs3212716
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000215.3(JAK3):c.631A>C (p.Arg211=) rs56269787
NM_000216.4(ANOS1):c.1283C>T (p.Pro428Leu) rs148736113
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) rs137900287
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn) rs140670828
NM_000217.3(KCNA1):c.114C>T (p.Arg38=) rs146308797
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000217.3(KCNA1):c.393G>A (p.Arg131=) rs142184899
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.225T>C (p.Val75=) rs367817352
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=)
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) rs563859144
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510
NM_000220.5(KCNJ1):c.102G>A (p.Gly34=) rs75088315
NM_000220.5(KCNJ1):c.256A>G (p.Thr86Ala) rs41302407
NM_000222.2(KIT):c.1119C>T (p.Tyr373=) rs72549293
NM_000222.2(KIT):c.1290A>G (p.Ala430=) rs55966164
NM_000222.2(KIT):c.1621A>C (p.Met541Leu) rs3822214
NM_000222.2(KIT):c.1638A>G (p.Lys546=) rs55986963
NM_000222.2(KIT):c.1794A>T (p.Gly598=) rs72549292
NM_000222.2(KIT):c.2394C>T (p.Ile798=) rs55789615
NM_000222.2(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000222.2(KIT):c.2586G>C (p.Leu862=) rs3733542
NM_000222.2(KIT):c.2805T>A (p.Ile935=) rs72549296
NM_000222.2(KIT):c.2847C>T (p.Pro949=) rs56288823
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000226.4(KRT9):c.1587T>C (p.Gly529=) rs146001104
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=) rs115883756
NM_000228.3(LAMB3):c.2542C>T (p.Arg848Trp) rs59260335
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile) rs61753424
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly) rs55824996
NM_000228.3(LAMB3):c.372+10C>T rs192386323
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919
NM_000231.2(SGCG):c.*13C>T rs9510701
NM_000231.2(SGCG):c.*254G>A rs3751371
NM_000231.2(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.2(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000231.2(SGCG):c.435C>T (p.Asn145=) rs35628352
NM_000231.2(SGCG):c.579-22G>T rs111358030
NM_000231.2(SGCG):c.705T>C (p.Leu235=) rs1800353
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000232.4(SGCB):c.243+6T>A rs146888744
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) rs115928999
NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser) rs61996314
NM_000233.4(LHCGR):c.458+3A>G rs76210637
NM_000233.4(LHCGR):c.606-5C>T rs78135094
NM_000233.4(LHCGR):c.610C>T (p.Leu204=) rs61996322
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.539-6T>C rs201898154
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134
NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg) rs140272400
NM_000236.3(LIPC):c.264C>T (p.His88=) rs7175412
NM_000237.3(LPL):c.*9G>A rs4922115
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) rs300
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr) rs5934
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) rs328
NM_000237.3(LPL):c.405G>A (p.Val135=) rs1121923
NM_000237.3(LPL):c.430-6C>T rs11570897
NM_000237.3(LPL):c.435G>A (p.Glu145=) rs248
NM_000240.3(MAOA):c.1410T>C (p.Asp470=) rs1137070
NM_000240.3(MAOA):c.385A>C (p.Arg129=) rs1800464
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.891G>T (p.Arg297=) rs6323
NM_000242.2(MBL2):c.132C>T (p.Asn44=) rs34120190
NM_000242.2(MBL2):c.170G>A (p.Gly57Glu) rs1800451
NM_000242.2(MBL2):c.378C>G (p.Leu126=) rs930507
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.1092G>T (p.Pro364=) rs11466022
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.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1428A>G (p.Gln476=) rs224207
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1587+18C>T rs11466030
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2163C>T (p.Phe721=) rs11466047
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
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.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.663G>C (p.Pro221=) rs104895162
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000244.3(MEN1):c.-20G>A rs386134244
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.-35A>C rs679946
NM_000244.3(MEN1):c.-35A>T rs679946
NM_000244.3(MEN1):c.1018C>A (p.Arg340=) rs371364206
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1653G>A (p.Pro551=) rs368783097
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
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.612C>T (p.His204=) rs150512958
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.670-11dup rs772016629
NM_000244.3(MEN1):c.670-4del rs748005956
NM_000244.3(MEN1):c.777G>A (p.Leu259=) rs199909967
NM_000246.3(CIITA):c.1973C>G (p.Ala658Gly) rs2229319
NM_000246.3(CIITA):c.2072C>A (p.Ala691Asp) rs78108426
NM_000246.3(CIITA):c.225C>T (p.Cys75=) rs2229318
NM_000246.3(CIITA):c.2286C>A (p.Ile762=) rs35976871
NM_000246.3(CIITA):c.2342C>T (p.Ser781Leu) rs13330686
NM_000246.3(CIITA):c.2345T>C (p.Val782Ala) rs13336804
NM_000246.3(CIITA):c.2472C>T (p.His824=) rs45621432
NM_000246.3(CIITA):c.2565G>A (p.Ala855=) rs2229321
NM_000246.3(CIITA):c.2924A>G (p.Lys975Arg) rs140103491
NM_000248.3(MITF):c.-36G>A rs77588960
NM_000248.3(MITF):c.1248G>A (p.Glu416=) rs200830148
NM_000248.3(MITF):c.559+9C>G rs181810413
NM_000248.3(MITF):c.861A>G (p.Glu287=) rs137904015
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.3(MLH1):c.-269C>G rs35032294
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-93G>A rs1800734
NM_000249.3(MLH1):c.1020C>G (p.Ser340=) rs374770981
NM_000249.3(MLH1):c.1038+51C>T rs55986674
NM_000249.3(MLH1):c.1039-10_1039-8dup rs57509953
NM_000249.3(MLH1):c.1039-11_1039-8dup rs57509953
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTA rs535965616
NM_000249.3(MLH1):c.1039-8del rs57509953
NM_000249.3(MLH1):c.1040C>A (p.Thr347Asn) rs201541505
NM_000249.3(MLH1):c.1050A>G (p.Pro350=) rs137937003
NM_000249.3(MLH1):c.1104G>A (p.Ser368=) rs769364808
NM_000249.3(MLH1):c.1128T>C (p.Asp376=) rs267607824
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.116+14C>G rs773103242
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.3(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.3(MLH1):c.1269G>A (p.Arg423=) rs373076967
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1410-10T>G rs372053184
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1559-11T>C rs730881750
NM_000249.3(MLH1):c.1590C>T (p.Phe530=) rs752241564
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.1743G>A (p.Pro581=) rs567838745
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.1853A>G (p.Lys618Arg) rs63750449
NM_000249.3(MLH1):c.1897-17C>G rs2308316
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.207+12C>T rs121909450
NM_000249.3(MLH1):c.2070C>T (p.Tyr690=) rs550890395
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2104-11G>A rs147984696
NM_000249.3(MLH1):c.2104-19C>T rs74598902
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.24T>A (p.Ile8=) rs748406142
NM_000249.3(MLH1):c.277A>G (p.Ser93Gly) rs41295282
NM_000249.3(MLH1):c.303T>G (p.Gly101=) rs4647220
NM_000249.3(MLH1):c.307-19A>G rs121909451
NM_000249.3(MLH1):c.307-29C>A rs139620056
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.3(MLH1):c.42A>C (p.Thr14=) rs369737664
NM_000249.3(MLH1):c.438A>G (p.Gln146=) rs377279035
NM_000249.3(MLH1):c.453+25A>G rs4647246
NM_000249.3(MLH1):c.474C>T (p.Asn158=) rs4647256
NM_000249.3(MLH1):c.479C>T (p.Ala160Val) rs63749924
NM_000249.3(MLH1):c.487A>C (p.Arg163=) rs748500860
NM_000249.3(MLH1):c.545+19G>T rs41285099
NM_000249.3(MLH1):c.579A>G (p.Ser193=) rs587781038
NM_000249.3(MLH1):c.588+11G>C rs4647258
NM_000249.3(MLH1):c.589-15C>T rs55658850
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.803A>G (p.Glu268Gly) rs63750650
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.3(MLH1):c.845C>G (p.Ala282Gly) rs63750360
NM_000249.3(MLH1):c.884+16A>G rs377598055
NM_000249.3(MLH1):c.885-21TC[2] rs267607804
NM_000249.3(MLH1):c.885-5G>T rs267607802
NM_000249.3(MLH1):c.954C>T (p.His318=) rs146777069
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.-118T>C rs2303425
NM_000251.2(MSH2):c.-179C>T rs17224094
NM_000251.2(MSH2):c.-185C>A rs188036046
NM_000251.2(MSH2):c.1131A>G (p.Gln377=) rs181852377
NM_000251.2(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) rs63750006
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.1277-16T>C rs368653974
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1311G>T (p.Val437=) rs730881781
NM_000251.2(MSH2):c.1386+104C>T rs17224444
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) rs35107951
NM_000251.2(MSH2):c.1488A>G (p.Leu496=) rs267607960
NM_000251.2(MSH2):c.1511-41G>C rs202215396
NM_000251.2(MSH2):c.1511-9A>T rs12998837
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.1661+12G>A rs3732183
NM_000251.2(MSH2):c.1661+17T>G rs377461923
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
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.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.1760-16T>G rs768370188
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.198C>T (p.Tyr66=) rs730881784
NM_000251.2(MSH2):c.2005+8dup rs267607992
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.211+8C>T rs267607916
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.212-4delT rs746333570
NM_000251.2(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409
NM_000251.2(MSH2):c.2154A>G (p.Gln718=) rs63750810
NM_000251.2(MSH2):c.2205C>A (p.Ile735=) rs533553381
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.2271C>T (p.Tyr757=) rs56076152
NM_000251.2(MSH2):c.2355T>C (p.His785=) rs1114167840
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.2766T>C (p.Phe922=) rs55859129
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.2(MSH2):c.279_281delTCT rs267607919
NM_000251.2(MSH2):c.2802G>A (p.Thr934=) rs150259097
NM_000251.2(MSH2):c.317G>A (p.Arg106Lys) rs41295286
NM_000251.2(MSH2):c.336C>A (p.Ser112=) rs34312619
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
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.471C>A (p.Gly157=) rs61756463
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.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.594A>G (p.Glu198=) rs369685768
NM_000251.2(MSH2):c.642A>G (p.Arg214=) rs768931909
NM_000251.2(MSH2):c.646-16A>T rs565117135
NM_000251.2(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.2(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.819A>G (p.Val273=) rs146577635
NM_000251.2(MSH2):c.942+20_942+29del rs11309117
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000251.2(MSH2):c.944G>T (p.Gly315Val) rs202026056
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.972G>A (p.Gln324=) rs63750505
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000252.2(MTM1):c.1260+3G>A rs222410
NM_000252.2(MTM1):c.1454C>T (p.Ala485Val) rs782137551
NM_000252.2(MTM1):c.1468-10C>T rs782174623
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) rs140642341
NM_000252.2(MTM1):c.582C>T (p.Leu194=) rs367912069
NM_000252.2(MTM1):c.63+7del rs782222093
NM_000253.3(MTTP):c.1151A>C (p.Asp384Ala) rs17029215
NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) rs141736123
NM_000253.3(MTTP):c.1557+7T>A rs142706742
NM_000253.3(MTTP):c.1769+14C>T rs41275713
NM_000253.3(MTTP):c.2636A>G (p.Lys879Arg) rs114049933
NM_000253.3(MTTP):c.2673C>T (p.Ser891=) rs115222767
NM_000253.3(MTTP):c.285G>C (p.Gln95His) rs61733139
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000253.3(MTTP):c.522T>C (p.Cys174=) rs982424
NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) rs17599091
NM_000253.3(MTTP):c.891C>G (p.His297Gln) rs2306985
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.1076-8C>T rs115186224
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000254.2(MTR):c.2044-9C>T rs531027742
NM_000254.2(MTR):c.2349C>T (p.Asp783=) rs150734119
NM_000254.2(MTR):c.2473+8G>T rs144061765
NM_000254.2(MTR):c.250-7G>A rs184332230
NM_000254.2(MTR):c.2772C>G (p.Leu924=) rs533541925
NM_000254.2(MTR):c.2815G>C (p.Gly939Arg) rs113042166
NM_000254.2(MTR):c.3141C>T (p.Tyr1047=) rs560615373
NM_000254.2(MTR):c.340-6C>T rs7526063
NM_000254.2(MTR):c.3477C>T (p.Asp1159=) rs117061132
NM_000254.2(MTR):c.3491G>A (p.Arg1164His) rs61736326
NM_000254.2(MTR):c.3599-10C>A rs41530146
NM_000254.2(MTR):c.3665A>G (p.Asn1222Ser) rs61739582
NM_000254.2(MTR):c.3712-7T>G rs151081130
NM_000254.2(MTR):c.858C>T (p.Pro286=) rs146019467
NM_000254.2(MTR):c.940G>A (p.Asp314Asn) rs2229274
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
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.461G>A (p.Arg154His) rs142068898
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1227-10C>T rs374673836
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092
NM_000256.3(MYBPC3):c.1302C>T (p.Tyr434=)
NM_000256.3(MYBPC3):c.1347G>T (p.Val449=) rs539453748
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831
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.1863C>T (p.Phe621=) rs193922378
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2308+12C>T rs727505335
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) rs201040413
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215
NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=) rs370530334
NM_000256.3(MYBPC3):c.2961C>T (p.Val987=) rs761700877
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=) rs762154672
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=) rs376344765
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517
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.440C>T (p.Pro147Leu) rs730880615
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.506-17C>T rs561595897
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.772+10C>T rs375525278
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) rs200713257
NM_000256.3(MYBPC3):c.926+8C>T rs377595584
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=) rs397516085
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846
NM_000257.4(MYH7):c.*113G>A rs17794387
NM_000257.4(MYH7):c.*20G>A rs45548631
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=) rs150885220
NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys) rs786205356
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293
NM_000257.4(MYH7):c.1408-42del rs45490796
NM_000257.4(MYH7):c.1482T>C (p.Phe494=) rs587781088
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667
NM_000257.4(MYH7):c.1632C>T (p.Thr544=) rs587781089
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816