ClinVar Miner

Variants with conflicting interpretations "likely benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "benign" from any submitter

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 788
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HGVS dbSNP
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026
NM_000038.6(APC):c.2640C>T (p.Ile880=) rs200184105
NM_000038.6(APC):c.2778T>C (p.Ser926=) rs371526966
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
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.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.6(APC):c.5027G>C (p.Arg1676Thr) rs143674116
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.8061A>G (p.Ser2687=) rs746180965
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
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.1953A>G (p.Leu651=) rs730881283
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.2187C>T (p.Tyr729=) rs373430058
NM_000051.3(ATM):c.2577C>T (p.Asn859=) rs730881286
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.2967T>C (p.Thr989=) rs144145128
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3963G>A (p.Met1321Ile) rs35184530
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5005+9C>T rs730881291
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.7044G>A (p.Thr2348=) rs140104789
NM_000051.3(ATM):c.7224G>A (p.Ser2408=) rs145747513
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7983T>C (p.Asp2661=) rs143972422
NM_000051.3(ATM):c.8532T>C (p.Ile2844=) rs730881278
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8730C>G (p.Leu2910=) rs551041839
NM_000051.3(ATM):c.8922G>A (p.Pro2974=) rs527248759
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.4(ATM):c.6795C>T rs3218699
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.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000059.3(BRCA2):c.*14C>T rs373436334
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.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1272A>G (p.Ser424=) rs587780531
NM_000059.3(BRCA2):c.1749G>A (p.Leu583=) rs780324598
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.2133C>T (p.Cys711=) rs535547513
NM_000059.3(BRCA2):c.2208A>G (p.Ala736=) rs144984153
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2484T>C (p.Tyr828=) rs45619134
NM_000059.3(BRCA2):c.2490C>T (p.Asn830=) rs56331088
NM_000059.3(BRCA2):c.2601T>G (p.Thr867=) rs730881589
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2739C>T (p.Asp913=) rs276174829
NM_000059.3(BRCA2):c.2817C>T (p.Thr939=) rs367921107
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.3417G>A (p.Lys1139=) rs145625991
NM_000059.3(BRCA2):c.3462C>T (p.Thr1154=) rs4986856
NM_000059.3(BRCA2):c.3874C>T (p.Leu1292=) rs587780867
NM_000059.3(BRCA2):c.4179G>A (p.Ala1393=) rs770531115
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.4578A>G (p.Thr1526=) rs202022822
NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) rs750813972
NM_000059.3(BRCA2):c.476-9dup rs276174849
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
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.5529A>C (p.Ala1843=) rs372951842
NM_000059.3(BRCA2):c.5631C>T (p.Asn1877=) rs374326934
NM_000059.3(BRCA2):c.5688A>G (p.Ala1896=) rs768907899
NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005
NM_000059.3(BRCA2):c.627C>T (p.Leu209=) rs28897704
NM_000059.3(BRCA2):c.6531T>A (p.Ile2177=) rs587780658
NM_000059.3(BRCA2):c.67+16A>G rs529148674
NM_000059.3(BRCA2):c.67+19T>C rs587780865
NM_000059.3(BRCA2):c.6841+11A>G rs730881592
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.6960G>A (p.Leu2320=) rs373134168
NM_000059.3(BRCA2):c.7050C>T (p.Thr2350=) rs587780870
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.7239A>G (p.Lys2413=) rs763727386
NM_000059.3(BRCA2):c.7317A>G (p.Gly2439=) rs587780660
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.750G>A (p.Val250=) rs143214959
NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) rs587780662
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8298A>G (p.Thr2766=) rs730881594
NM_000059.3(BRCA2):c.8331+16C>G rs730881595
NM_000059.3(BRCA2):c.8352G>T (p.Arg2784=) rs747664806
NM_000059.3(BRCA2):c.8487+8G>A rs81002838
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8953+16C>T rs81002892
NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) rs368576266
NM_000059.3(BRCA2):c.9234C>T (p.Val3078=) rs587782428
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
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.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9837A>G (p.Leu3279=) rs730881598
NM_000059.3(BRCA2):c.987G>A (p.Arg329=) rs561002197
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358
NM_000059.4(BRCA2):c.7805+13A>G rs149769332
NM_000059.4(BRCA2):c.794-11T>C rs81002822
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His) rs80359150
NM_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923
NM_000077.4(CDKN2A):c.197A>G (p.His66Arg) rs756750256
NM_000077.4(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
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.2445T>G (p.Pro815=) rs199727625
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141
NM_000138.4(FBN1):c.1323A>G (p.Pro441=) rs202030761
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1176T>C (p.Asp392=) rs587779912
NM_000179.2(MSH6):c.1509C>T (p.Ser503=) rs545020313
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.1917G>A (p.Glu639=) rs368059229
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.2319C>T (p.Leu773=) rs63749895
NM_000179.2(MSH6):c.3024C>T (p.Thr1008=) rs587780675
NM_000179.2(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.2(MSH6):c.3399T>C (p.Thr1133=) rs61748084
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3852G>A (p.Thr1284=) rs2229018
NM_000179.2(MSH6):c.3960A>G (p.Ala1320=) rs373425206
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu) rs61734494
NM_000233.4(LHCGR):c.458+3A>G rs76210637
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_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1587+18C>T rs11466030
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
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.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.585G>A rs200766991
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.1269G>A (p.Arg423=) rs373076967
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.24T>A (p.Ile8=) rs748406142
NM_000249.3(MLH1):c.42A>C (p.Thr14=) rs369737664
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.3(MLH1):c.954C>T (p.His318=) rs146777069
NM_000251.2(MSH2):c.1311G>T (p.Val437=) rs730881781
NM_000251.2(MSH2):c.1488A>G (p.Leu496=) rs267607960
NM_000251.2(MSH2):c.1560A>G (p.Gly520=) rs63750820
NM_000251.2(MSH2):c.2271C>T (p.Tyr757=) rs56076152
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.336C>A (p.Ser112=) rs34312619
NM_000251.2(MSH2):c.367-19A>T rs730881783
NM_000251.2(MSH2):c.642A>G (p.Arg214=) rs768931909
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000253.3(MTTP):c.294G>C (p.Glu98Asp) rs2306986
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.497A>G (p.Asn166Ser) rs3792683
NM_000253.3(MTTP):c.891C>G (p.His297Gln) rs2306985
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955
NM_000257.4(MYH7):c.1482T>C (p.Phe494=) rs587781088
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.3402G>A (p.Lys1134=) rs587781083
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) rs151113658
NM_000257.4(MYH7):c.633G>A (p.Pro211=) rs587781087
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681
NM_000335.5(SCN5A):c.3663+10T>C rs200656652
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000384.3(APOB):c.10520G>C (p.Arg3507Pro) rs201156840
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000397.3(CYBB):c.654C>A (p.Gly218=) rs35080474
NM_000455.4(STK11):c.375-7G>A rs587781176
NM_000455.4(STK11):c.426C>T (p.Ser142=) rs758448869
NM_000455.4(STK11):c.594C>T (p.Ala198=) rs772940660
NM_000455.4(STK11):c.615G>A (p.Ala205=) rs532889728
NM_000455.4(STK11):c.735-10C>T rs553975112
NM_000455.4(STK11):c.876C>T (p.Tyr292=) rs148928808
NM_000457.4(HNF4A):c.459T>C (p.Asn153=) rs113308087
NM_000457.4(HNF4A):c.762C>T (p.His254=) rs150078978
NM_000457.4(HNF4A):c.810C>T (p.Asp270=) rs6031592
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242
NM_000465.4(BARD1):c.1152C>T (p.Ser384=) rs368291318
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457
NM_000465.4(BARD1):c.1515G>T (p.Gly505=) rs139721211
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.2280G>A (p.Ser760=) rs749959440
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.4(BARD1):c.348T>C (p.His116=) rs139934362
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406
NM_000465.4(BARD1):c.738A>G (p.Pro246=) rs587780859
NM_000465.4(BARD1):c.783A>G (p.Leu261=) rs201862973
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.-4G>C rs369326781
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.316-37G>T rs193922559
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000545.6(HNF1A):c.1107+9C>G rs17847497
NM_000545.6(HNF1A):c.1165T>G (p.Leu389Val) rs115080759
NM_000546.5(TP53):c.102C>G (p.Pro34=) rs11575998
NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_000546.5(TP53):c.123T>C (p.Asp41=) rs369129220
NM_000546.5(TP53):c.18A>C (p.Ser6=) rs573130482
NM_000546.5(TP53):c.354A>T (p.Thr118=) rs751978853
NM_000546.5(TP53):c.510G>A (p.Thr170=) rs757544615
NM_000546.5(TP53):c.582T>C (p.Leu194=) rs370216745
NM_000546.5(TP53):c.6G>A (p.Glu2=) rs143458271
NM_000546.5(TP53):c.782+10C>T rs200277687
NM_000546.5(TP53):c.920-5C>T rs34361146
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.385-14T>C rs372287944
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365
NM_001048171.1(MUTYH):c.1506G>A (p.Pro502=) rs143796254
NM_001048171.1(MUTYH):c.42C>T (p.Ile14=) rs202240122
NM_001048171.1(MUTYH):c.771C>T (p.Asp257=) rs730881838
NM_001048171.1(MUTYH):c.956-9C>T rs3219488
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001103.3(ACTN2):c.744C>T (p.Tyr248=) rs749565466
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) rs61749746
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416
NM_001126049.2(KLLN):c.-840G>A rs563841270
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417
NM_001160301.1(DPYD):c.451A>G (p.Asn151Asp) rs200562975
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056
NM_001234.5(CAV3):c.417C>T (p.Val139=) rs147250678
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=) rs182425565
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314
NM_001267550.2(TTN):c.39128-14T>C rs200916144
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107
NM_001267550.2(TTN):c.41330-7T>A rs373636988
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.212A>G (p.Asn71Ser) rs184022679
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001367624.2(ZNF469):c.6470G>A rs13334190
NM_001371904.1(APOA5):c.111C>A (p.Asp37Glu) rs34282181
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_002471.3(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239
NM_002485.4(NBN):c.1089C>T (p.Tyr363=) rs121908974
NM_002485.4(NBN):c.1317A>G (p.Ile439Met) rs28538230
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.2196A>G (p.Gln732=) rs587780780
NM_002485.4(NBN):c.2202A>G (p.Ala734=) rs200452212
NM_002485.4(NBN):c.426T>C (p.Asn142=) rs143070291
NM_002485.4(NBN):c.441C>T (p.Cys147=) rs137857529
NM_002485.4(NBN):c.804G>A (p.Thr268=) rs141443872
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) rs140990974
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002878.3(RAD51D):c.216C>T (p.Tyr72=) rs148690585
NM_002878.3(RAD51D):c.864C>T (p.Gly288=) rs138557828
NM_002878.3(RAD51D):c.904-3C>T rs45478491
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu) rs572545726
NM_003122.4(SPINK1):c.36G>C (p.Leu12Phe) rs35877720
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003924.3(PHOX2B):c.750G>A (p.Ala250=) rs17882335
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.5163G>C (p.Lys1721Asn) rs72468630
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004360.5(CDH1):c.1392C>T (p.Val464=) rs373811706
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.1689C>T (p.Ala563=) rs587780786
NM_004360.5(CDH1):c.2091G>A (p.Lys697=) rs61747635
NM_004360.5(CDH1):c.2103C>T (p.Val701=) rs730881656
NM_004360.5(CDH1):c.2322G>A (p.Arg774=) rs150734856
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029
NM_004572.3(PKP2):c.1230C>T (p.Asp410=) rs148364390
NM_004572.3(PKP2):c.2615C>T (p.Thr872Ile) rs370599966
NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) rs115444936
NM_004646.3(NPHS1):c.697A>G (p.Thr233Ala) rs35238405
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280
NM_005343.4(HRAS):c.*1C>T rs730880327
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005591.3(MRE11):c.1783+5G>C rs142082313
NM_005751.4(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833
NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) rs372901803
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006767.4(LZTR1):c.678A>T (p.Pro226=) rs200001328
NM_007078.3(LDB3):c.690-4A>G rs45529531
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.4676-16C>G rs80358067
NM_007294.3(BRCA1):c.4676-7C>T rs80358005
NM_007294.3(BRCA1):c.5153-6C>A rs80358129
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.670+16G>A rs199916228
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=) rs775032066
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=) rs369373293
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=) rs730881451
NM_007294.4(BRCA1):c.2860C>T (p.Leu954=) rs730881452
NM_007294.4(BRCA1):c.288C>T (p.Asp96=) rs146085503
NM_007294.4(BRCA1):c.301+7G>A rs80358113
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.4(BRCA1):c.366T>G (p.Val122=) rs190900046
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=) rs368690455
NM_007294.4(BRCA1):c.3717T>A (p.Ser1239=) rs730881453
NM_007294.4(BRCA1):c.420T>C (p.Ser140=) rs730881448
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.4(BRCA1):c.4635C>T (p.His1545=) rs373686790
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.4(BRCA1):c.5124G>A (p.Ala1708=) rs1057520432
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu) rs765656957
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810
NM_007299.4(BRCA1):c.593+3G>A rs80358013
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_014000.3(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) rs74315344
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8922G>A (p.Ala2974=) rs116854981
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024675.3(PALB2):c.12T>C (p.Pro4=) rs567706422
NM_024675.3(PALB2):c.1641C>T (p.Thr547=) rs564514783
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
NM_024675.3(PALB2):c.2418G>A (p.Pro806=) rs577076372
NM_024675.3(PALB2):c.2442G>A (p.Glu814=) rs140776736
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2586+10A>G rs373321719
NM_024675.3(PALB2):c.2607C>A (p.Ser869=) rs45542234
NM_024675.3(PALB2):c.2673C>T (p.Cys891=) rs78179744
NM_024675.3(PALB2):c.2881C>T (p.Leu961=) rs61755166
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=) rs374807671
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241
NM_032043.2(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser) rs550707862
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164
NM_058216.3(RAD51C):c.948T>C (p.His316=) rs773196250
NM_080911.3(UNG):c.246G>C (p.Leu82=) rs144083363
NM_138694.4(PKHD1):c.1234-5C>T rs116124750
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_144612.6(LOXHD1):c.2473G>A (p.Val825Met) rs36086089
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956
NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) rs16991652
NM_198056.2(SCN5A):c.1050C>T (p.His350=) rs587781160
NM_198056.2(SCN5A):c.1065C>T (p.Phe355=) rs45570333
NM_198056.2(SCN5A):c.2001C>T (p.Ser667=) rs587781161
NM_198056.2(SCN5A):c.3912G>A (p.Thr1304=) rs764462471
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) rs202218948

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