NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser)
|
rs1063242
|
0.99690
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)
|
rs31304
|
0.96579
|
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)
|
rs1802904
|
0.88595
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
NM_001715.3(BLK):c.843T>C (p.Phe281=)
|
rs2306234
|
0.81190
|
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)
|
rs2075252
|
0.79497
|
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
NM_002617.4(PEX10):c.291A>G (p.Thr97=)
|
rs2494598
|
0.74152
|
NM_000179.3(MSH6):c.3802-40C>G
|
rs3136367
|
0.73398
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_000101.4(CYBA):c.214T>C (p.Tyr72His)
|
rs4673
|
0.64973
|
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
NM_001184.4(ATR):c.1776T>A (p.Gly592=)
|
rs2227930
|
0.63717
|
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)
|
rs4667591
|
0.60691
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
NM_000251.3(MSH2):c.211+9C>G
|
rs2303426
|
0.55454
|
NM_002769.5(PRSS1):c.738T>C (p.Asn246=)
|
rs6667
|
0.53816
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000251.3(MSH2):c.1077-80G>A
|
rs2347794
|
0.53152
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu)
|
rs1142530
|
0.52046
|
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)
|
rs9490809
|
0.50546
|
NM_000104.4(CYP1B1):c.1294= (p.Leu432=)
|
rs1056836
|
0.48746
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn)
|
rs4548513
|
0.47526
|
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
NM_001386140.1(MTTP):c.891C>G (p.His297Gln)
|
rs2306985
|
0.47212
|
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu)
|
rs1135688
|
0.47045
|
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe)
|
rs1801195
|
0.46398
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
NM_000553.6(WRN):c.2361G>T (p.Leu787=)
|
rs1800392
|
0.44630
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)
|
rs2496425
|
0.43515
|
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val)
|
rs6835769
|
0.43382
|
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)
|
rs1131695
|
0.42930
|
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=)
|
rs28407527
|
0.42407
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)
|
rs7079481
|
0.40619
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
NM_000251.3(MSH2):c.1661+12G>A
|
rs3732183
|
0.40290
|
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)
|
rs10823148
|
0.39447
|
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn)
|
rs10997975
|
0.39270
|
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)
|
rs227368
|
0.39095
|
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn)
|
rs7916821
|
0.39079
|
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met)
|
rs10880
|
0.39072
|
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)
|
rs2236225
|
0.38175
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly)
|
rs10012
|
0.36324
|
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp)
|
rs1001238
|
0.35628
|
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val)
|
rs2042995
|
0.35566
|
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.35516
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)
|
rs1056827
|
0.35167
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)
|
rs4148211
|
0.34608
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=)
|
rs2227931
|
0.34166
|
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)
|
rs6960867
|
0.33817
|
NM_000535.7(PMS2):c.705+17A>G
|
rs62456182
|
0.33782
|
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp)
|
rs1860967
|
0.33038
|
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)
|
rs10891314
|
0.32172
|
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
|
rs13181
|
0.31719
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.31278
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys)
|
rs3742801
|
0.30506
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
NM_001492.6(GDF1):c.353C>T (p.Ala118Val)
|
rs4808863
|
0.30267
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
NM_005591.4(MRE11):c.403-6G>A
|
rs535801
|
0.28996
|
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala)
|
rs4774
|
0.27935
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
NM_001395413.1(POR):c.1499C>T (p.Ala500Val)
|
rs1057868
|
0.26722
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)
|
rs1799793
|
0.26310
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val)
|
rs10149146
|
0.25663
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)
|
rs1051338
|
0.25399
|
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile)
|
rs35767802
|
0.24762
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
NM_000179.3(MSH6):c.540T>C (p.Asp180=)
|
rs1800935
|
0.23857
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
|
rs1303
|
0.21786
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro)
|
rs12632942
|
0.21722
|
NM_032588.4(TRIM63):c.709A>G (p.Lys237Glu)
|
rs2275950
|
0.21674
|
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg)
|
rs1050349
|
0.21500
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)
|
rs6720173
|
0.21159
|
NM_001142800.2(EYS):c.2024-14_2024-13insT
|
rs142590049
|
0.21040
|
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val)
|
rs57326399
|
0.20797
|
NM_000270.4(PNP):c.151G>A (p.Gly51Ser)
|
rs1049564
|
0.20682
|
NM_005257.6(GATA6):c.1620+7A>G
|
rs3764962
|
0.20625
|
NM_080424.4(SP110):c.617C>T (p.Ala206Val)
|
rs28930679
|
0.20608
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro)
|
rs187316
|
0.20037
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)
|
rs3864017
|
0.19295
|
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val)
|
rs449643
|
0.19166
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19072
|
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser)
|
rs3803403
|
0.19072
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19057
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr)
|
rs1803274
|
0.18493
|
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly)
|
rs11993776
|
0.18341
|
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu)
|
rs3803405
|
0.18268
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)
|
rs72646967
|
0.17704
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile)
|
rs35813871
|
0.17564
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu)
|
rs17737379
|
0.17356
|
NM_053025.4(MYLK):c.62C>A (p.Pro21His)
|
rs28497577
|
0.17349
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)
|
rs17720303
|
0.16644
|
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly)
|
rs28494009
|
0.16504
|
NM_001267550.2(TTN):c.98098+9T>A
|
rs2288325
|
0.16490
|
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
|
rs1805388
|
0.16468
|
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His)
|
rs12693166
|
0.16435
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser)
|
rs12693164
|
0.16204
|
NM_001365088.1(SLC12A6):c.1333+20G>T
|
rs2290941
|
0.16150
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)
|
rs11558492
|
0.15938
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
|
rs16866465
|
0.15861
|
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
|
rs2230028
|
0.15795
|
NM_053025.4(MYLK):c.782T>C (p.Val261Ala)
|
rs3796164
|
0.15515
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000179.3(MSH6):c.276A>G (p.Pro92=)
|
rs1800932
|
0.14697
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)
|
rs2493292
|
0.14386
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser)
|
rs12140311
|
0.13867
|
NM_000535.7(PMS2):c.1621= (p.Lys541=)
|
rs2228006
|
0.13518
|
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)
|
rs11090865
|
0.13476
|
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)
|
rs1051339
|
0.13459
|
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr)
|
rs7830743
|
0.13382
|
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)
|
rs16866406
|
0.13367
|
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)
|
rs2288569
|
0.13356
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
rs113097169
|
0.13255
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)
|
rs28362581
|
0.13084
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
NM_000179.3(MSH6):c.186C>A (p.Arg62=)
|
rs1042820
|
0.12806
|
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala)
|
rs28377576
|
0.12654
|
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr)
|
rs2235491
|
0.12316
|
NM_001386140.1(MTTP):c.522T>C (p.Cys174=)
|
rs982424
|
0.12209
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_000535.7(PMS2):c.2007-7C>T
|
rs55954143
|
0.12135
|
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)
|
rs17852293
|
0.12044
|
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)
|
rs1800440
|
0.11965
|
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg)
|
rs438999
|
0.11951
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)
|
rs1040461
|
0.11850
|
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro)
|
rs3732486
|
0.11664
|
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)
|
rs747122
|
0.11550
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11354
|
NM_015166.4(MLC1):c.594C>T (p.Tyr198=)
|
rs6010165
|
0.11145
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
NM_001386140.1(MTTP):c.969T>C (p.Ala323=)
|
rs17533489
|
0.10642
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg)
|
rs35759833
|
0.09968
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
NM_001267550.2(TTN):c.68217T>C (p.His22739=)
|
rs10497517
|
0.09829
|
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)
|
rs36086089
|
0.09592
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)
|
rs13334190
|
0.09442
|
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)
|
rs143793502
|
0.09373
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)
|
rs3807153
|
0.09195
|
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)
|
rs2306942
|
0.09135
|
NM_000251.3(MSH2):c.1511-9A>T
|
rs12998837
|
0.09123
|
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)
|
rs6569336
|
0.09024
|
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro)
|
rs7630989
|
0.08988
|
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
|
rs34312154
|
0.08810
|
NM_080424.4(SP110):c.619G>A (p.Glu207Lys)
|
rs9061
|
0.08779
|
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)
|
rs2306986
|
0.08726
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_005094.4(SLC27A4):c.625G>A (p.Gly209Ser)
|
rs2240953
|
0.08653
|
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp)
|
rs2920048
|
0.08600
|
NM_000214.3(JAG1):c.2214A>C (p.Thr738=)
|
rs1801140
|
0.08364
|
NM_001378969.1(KCND3):c.264C>T (p.Pro88=)
|
rs17221819
|
0.08351
|
NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr)
|
rs4893852
|
0.08349
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser)
|
rs3792683
|
0.08314
|
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=)
|
rs6717213
|
0.08304
|
NM_000214.3(JAG1):c.267G>A (p.Gly89=)
|
rs1051415
|
0.08298
|
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)
|
rs62621236
|
0.08189
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)
|
rs12968116
|
0.08072
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly)
|
rs34598813
|
0.07866
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu)
|
rs13398235
|
0.07839
|
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)
|
rs56207956
|
0.07828
|
NM_000553.6(WRN):c.340G>A (p.Val114Ile)
|
rs2230009
|
0.07797
|
NM_001267550.2(TTN):c.25921+10C>T
|
rs10183237
|
0.07769
|
NM_000137.4(FAH):c.267G>C (p.Leu89=)
|
rs33929922
|
0.07529
|
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)
|
rs1800937
|
0.07457
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)
|
rs16945474
|
0.07291
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)
|
rs16866425
|
0.07162
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu)
|
rs6723526
|
0.07129
|
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg)
|
rs58272575
|
0.07062
|
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro)
|
rs34908836
|
0.07052
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val)
|
rs61744947
|
0.06981
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_000214.3(JAG1):c.744A>G (p.Pro248=)
|
rs10485741
|
0.06947
|
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys)
|
rs6756629
|
0.06901
|
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=)
|
rs35281128
|
0.06868
|
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu)
|
rs3732487
|
0.06754
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
NM_022437.3(ABCG8):c.55G>C (p.Asp19His)
|
rs11887534
|
0.06566
|
NM_003640.5(ELP1):c.545T>A (p.Met182Lys)
|
rs10521092
|
0.06528
|
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)
|
rs1801591
|
0.06414
|
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile)
|
rs34992370
|
0.06330
|
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln)
|
rs2291569
|
0.06258
|
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val)
|
rs11568364
|
0.06201
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)
|
rs1127354
|
0.06104
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=)
|
rs16866473
|
0.05854
|
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)
|
rs11646374
|
0.05837
|
NM_006393.3(NEBL):c.1051A>G (p.Met351Val)
|
rs4025981
|
0.05741
|
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)
|
rs4894048
|
0.05739
|
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)
|
rs16866378
|
0.05725
|
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)
|
rs2229738
|
0.05682
|
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys)
|
rs4748728
|
0.05648
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
NM_001010874.5(TECRL):c.133C>T (p.Pro45Ser)
|
rs61744866
|
0.05584
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
NM_006393.3(NEBL):c.1132G>C (p.Asp378His)
|
rs41277370
|
0.05503
|
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)
|
rs41309679
|
0.05446
|
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val)
|
rs73040625
|
0.05426
|
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)
|
rs1800067
|
0.05364
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05293
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln)
|
rs11575542
|
0.05076
|
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=)
|
rs4894045
|
0.05021
|
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)
|
rs4893853
|
0.05020
|
NM_206937.2(LIG4):c.8C>T (p.Ala3Val)
|
rs1805389
|
0.04996
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)
|
rs35219601
|
0.04960
|
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
|
rs17679445
|
0.04944
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn)
|
rs2306636
|
0.04907
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile)
|
rs56142888
|
0.04798
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)
|
rs12476289
|
0.04792
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)
|
rs8178990
|
0.04717
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_057176.3(BSND):c.127G>A (p.Val43Ile)
|
rs34561376
|
0.04587
|
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)
|
rs9808036
|
0.04549
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)
|
rs143090627
|
0.04452
|
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg)
|
rs116482870
|
0.04448
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp)
|
rs34282046
|
0.04400
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser)
|
rs17470454
|
0.04338
|
NM_000391.4(TPP1):c.441A>G (p.Glu147=)
|
rs2555170
|
0.04313
|
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp)
|
rs11757455
|
0.04245
|
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln)
|
rs10139784
|
0.04245
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)
|
rs16866380
|
0.04073
|
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)
|
rs3813243
|
0.04071
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03966
|
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)
|
rs4894028
|
0.03961
|
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)
|
rs17599091
|
0.03958
|
NM_001267550.2(TTN):c.49731T>C (p.His16577=)
|
rs2115558
|
0.03943
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
NM_000156.6(GAMT):c.571-6G>A
|
rs2074899
|
0.03927
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln)
|
rs4534
|
0.03864
|
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=)
|
rs56179521
|
0.03852
|
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu)
|
rs17124677
|
0.03851
|
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser)
|
rs34997494
|
0.03846
|
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg)
|
rs61747004
|
0.03845
|
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu)
|
rs35137272
|
0.03845
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334
|
0.03832
|
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn)
|
rs17124662
|
0.03831
|
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)
|
rs2278196
|
0.03742
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_006493.4(CLN5):c.173+8C>T
|
rs9565308
|
0.03653
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_000433.4(NCF2):c.1167C>A (p.His389Gln)
|
rs17849502
|
0.03605
|
NM_017668.3(NDE1):c.948-5739G>A
|
rs34839877
|
0.03595
|
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)
|
rs72677244
|
0.03561
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
0.03550
|
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)
|
rs11896637
|
0.03502
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
NM_001711.6(BGN):c.564C>T (p.Ile188=)
|
rs2070933
|
0.03463
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)
|
rs34180031
|
0.03419
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr)
|
rs73730479
|
0.03401
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser)
|
rs2230795
|
0.03328
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val)
|
rs45467297
|
0.03285
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe)
|
rs35877720
|
0.03139
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser)
|
rs61749867
|
0.03097
|
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=)
|
rs61730765
|
0.03096
|
NM_005956.4(MTHFD1):c.2305C>T (p.Leu769Phe)
|
rs17857382
|
0.03087
|
NM_004415.4(DSP):c.423-16_423-15insC
|
rs113028223
|
0.03015
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=)
|
rs76046880
|
0.02993
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met)
|
rs11944325
|
0.02959
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)
|
rs17355446
|
0.02915
|
NM_001267550.2(TTN):c.32393-12A>G
|
rs16866434
|
0.02884
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)
|
rs80109666
|
0.02845
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
NM_001458.5(FLNC):c.2390-13C>T
|
rs78086167
|
0.02800
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_001458.5(FLNC):c.5669-12C>T
|
rs79790270
|
0.02786
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro)
|
rs77925409
|
0.02760
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)
|
rs115532916
|
0.02662
|
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)
|
rs17103671
|
0.02649
|
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)
|
rs34878020
|
0.02621
|
NM_001083116.3(PRF1):c.11G>A (p.Arg4His)
|
rs35418374
|
0.02616
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
NM_001267550.2(TTN):c.8116+19G>A
|
rs13011633
|
0.02607
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02594
|
NM_001164508.2(NEB):c.19732-6C>T
|
rs11894996
|
0.02589
|
NM_001349253.2(SCN11A):c.1442G>A (p.Gly481Glu)
|
rs13059805
|
0.02575
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807
|
0.02548
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr)
|
rs80025980
|
0.02513
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp)
|
rs34291900
|
0.02496
|
NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu)
|
rs143039156
|
0.02484
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)
|
rs61884288
|
0.02435
|
NM_000441.2(SLC26A4):c.1708-18T>A
|
rs55701254
|
0.02432
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser)
|
rs112028242
|
0.02391
|
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met)
|
rs61737718
|
0.02389
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02387
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp)
|
rs16849700
|
0.02374
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
NM_000214.3(JAG1):c.924C>T (p.Asn308=)
|
rs45575136
|
0.02367
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
NM_001377540.1(SLMAP):c.2145G>A (p.Gln715=)
|
rs17745496
|
0.02362
|
NM_001148.6(ANK2):c.3796+18G>A
|
rs66792339
|
0.02360
|
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)
|
rs113337987
|
0.02355
|
NM_001177316.2(SLC34A3):c.175+123C>T
|
rs111532084
|
0.02353
|
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)
|
rs113557405
|
0.02353
|
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)
|
rs73036398
|
0.02352
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp)
|
rs55752937
|
0.02339
|
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)
|
rs726070
|
0.02339
|
NM_020320.5(RARS2):c.991A>G (p.Ile331Val)
|
rs3757370
|
0.02330
|
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=)
|
rs73638274
|
0.02319
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
NM_024312.5(GNPTAB):c.3693+10A>T
|
rs76021817
|
0.02246
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
NM_133378.4(TTN):c.93062-10T>C
|
rs202214630
|
0.02222
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg)
|
rs55702300
|
0.02213
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly)
|
rs59567206
|
0.02208
|
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)
|
rs1140064
|
0.02197
|
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)
|
rs73599293
|
0.02196
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
0.02188
|
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)
|
rs2303829
|
0.02187
|
NM_004628.5(XPC):c.142C>T (p.Leu48Phe)
|
rs2229089
|
0.02177
|
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
|
rs72648932
|
0.02158
|
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg)
|
rs138818878
|
0.02149
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02132
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02080
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02072
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
NM_001267550.2(TTN):c.87669T>C (p.His29223=)
|
rs72648229
|
0.01997
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
NM_001035.3(RYR2):c.11557+19C>T
|
rs113408406
|
0.01994
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.01993
|
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala)
|
rs56018860
|
0.01992
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)
|
rs72648257
|
0.01992
|
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_001927.4(DES):c.-30_-18dup
|
rs794728983
|
0.01968
|
NM_006915.3(RP2):c.844C>T (p.Arg282Trp)
|
rs1805147
|
0.01957
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177
|
0.01951
|
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)
|
rs117781224
|
0.01941
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr)
|
rs61749223
|
0.01916
|
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile)
|
rs61753424
|
0.01891
|
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=)
|
rs115435816
|
0.01890
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile)
|
rs62347360
|
0.01871
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg)
|
rs62620248
|
0.01839
|
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg)
|
rs78778733
|
0.01836
|
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys)
|
rs35633849
|
0.01835
|
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly)
|
rs79849424
|
0.01835
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val)
|
rs114331773
|
0.01832
|
NM_001267550.2(TTN):c.49648+16T>C
|
rs57677875
|
0.01831
|
NM_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr)
|
rs73062575
|
0.01804
|
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro)
|
rs34320609
|
0.01801
|
NM_000249.4(MLH1):c.381-41A>G
|
rs4647245
|
0.01794
|
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn)
|
rs72647843
|
0.01782
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
NM_006502.3(POLH):c.1783A>G (p.Met595Val)
|
rs9333555
|
0.01768
|
NM_001267550.2(TTN):c.22611T>C (p.His7537=)
|
rs16866469
|
0.01765
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp)
|
rs34775428
|
0.01753
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala)
|
rs4915154
|
0.01733
|
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)
|
rs41270201
|
0.01730
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_003476.5(CSRP3):c.312C>G (p.Thr104=)
|
rs45582433
|
0.01721
|
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser)
|
rs35349917
|
0.01717
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01709
|
NM_152750.5(CDHR3):c.1653+3G>A
|
rs117797654
|
0.01697
|
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)
|
rs35625617
|
0.01691
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
NM_001377540.1(SLMAP):c.1968T>A (p.Leu656=)
|
rs35219531
|
0.01667
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp)
|
rs75366116
|
0.01644
|
NM_001184.4(ATR):c.2875G>A (p.Val959Met)
|
rs28910271
|
0.01643
|
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)
|
rs17853166
|
0.01640
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01638
|
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)
|
rs72648270
|
0.01635
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01633
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)
|
rs11568438
|
0.01617
|
NM_006790.3(MYOT):c.780G>A (p.Ser260=)
|
rs116773838
|
0.01617
|
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)
|
rs4986888
|
0.01612
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile)
|
rs35228363
|
0.01598
|
NM_032495.6(HOPX):c.87G>A (p.Glu29=)
|
rs11555052
|
0.01597
|
NM_002230.4(JUP):c.867C>T (p.Thr289=)
|
rs2230407
|
0.01591
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_012452.3(TNFRSF13B):c.563A>T (p.Lys188Met)
|
rs74811083
|
0.01589
|
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala)
|
rs56063729
|
0.01586
|
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=)
|
rs72646847
|
0.01577
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met)
|
rs2228525
|
0.01573
|
NM_000264.5(PTCH1):c.318C>T (p.Leu106=)
|
rs1805153
|
0.01567
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)
|
rs41288773
|
0.01560
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser)
|
rs12110554
|
0.01544
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
NM_001267550.2(TTN):c.52706-17A>G
|
rs72646807
|
0.01524
|
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=)
|
rs28437296
|
0.01520
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01518
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_001458.5(FLNC):c.1374C>T (p.Pro458=)
|
rs115140972
|
0.01514
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg)
|
rs34956633
|
0.01509
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys)
|
rs62618736
|
0.01503
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser)
|
rs72842957
|
0.01485
|
NM_020533.3(MCOLN1):c.777+99G>A
|
rs12462124
|
0.01482
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)
|
rs143663847
|
0.01456
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01455
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)
|
rs17292650
|
0.01420
|
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)
|
rs55757622
|
0.01419
|
NM_003238.6(TGFB2):c.643+7A>C
|
rs7531245
|
0.01418
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)
|
rs9904366
|
0.01403
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
NM_002471.4(MYH6):c.3979-7del
|
rs397516766
|
0.01401
|
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys)
|
rs4151033
|
0.01395
|
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)
|
rs35785620
|
0.01390
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
NM_000237.3(LPL):c.1018+16T>C
|
rs59184895
|
0.01380
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
NM_001164508.2(NEB):c.195G>A (p.Pro65=)
|
rs79524813
|
0.01367
|
NM_000257.4(MYH7):c.1408-42del
|
rs45490796
|
0.01363
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met)
|
rs74717885
|
0.01345
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01339
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly)
|
rs116779216
|
0.01318
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)
|
rs35887327
|
0.01309
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01308
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000110.4(DPYD):c.1236G>A (p.Glu412=)
|
rs56038477
|
0.01297
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=)
|
rs116098879
|
0.01291
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
NM_000433.4(NCF2):c.890T>C (p.Val297Ala)
|
rs35937854
|
0.01284
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)
|
rs72647877
|
0.01259
|
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650
|
0.01258
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg)
|
rs36044314
|
0.01250
|
NM_001127649.3(PEX26):c.*10C>T
|
rs117472525
|
0.01244
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
NM_000383.4(AIRE):c.652+14C>T
|
rs41277546
|
0.01242
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
NM_000303.3(PMM2):c.324G>A (p.Ala108=)
|
rs62031146
|
0.01239
|
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp)
|
rs36038685
|
0.01237
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01234
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_001458.5(FLNC):c.6004+19G>A
|
rs12530507
|
0.01231
|
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)
|
rs115977487
|
0.01228
|
NM_001164508.2(NEB):c.3775-6T>C
|
rs80232472
|
0.01222
|
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)
|
rs72629779
|
0.01213
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=)
|
rs35808744
|
0.01201
|
NM_001267550.2(TTN):c.1003G>A (p.Val335Met)
|
rs72647846
|
0.01195
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp)
|
rs41268685
|
0.01191
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
NM_145046.5(CALR3):c.861G>A (p.Thr287=)
|
rs118131979
|
0.01186
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01184
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01183
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
NM_001267550.2(TTN):c.1398+8C>T
|
rs72647848
|
0.01171
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01159
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)
|
rs45451294
|
0.01158
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
NM_005502.4(ABCA1):c.6450G>A (p.Pro2150=)
|
rs61741359
|
0.01152
|
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter)
|
rs45621032
|
0.01134
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
NM_001371904.1(APOA5):c.111C>A (p.Asp37Glu)
|
rs34282181
|
0.01131
|
NM_001711.6(BGN):c.257A>G (p.Lys86Arg)
|
rs146073993
|
0.01131
|
NM_005591.4(MRE11):c.1994+10G>A
|
rs1805366
|
0.01130
|
NM_001035.3(RYR2):c.10230+20T>C
|
rs74323916
|
0.01122
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
NM_004333.6(BRAF):c.-19C>T
|
rs71645935
|
0.01115
|
NM_000478.6(ALPL):c.1542G>T (p.Ala514=)
|
rs3200256
|
0.01113
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp)
|
rs2296610
|
0.01104
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_001164688.2(RD3):c.584A>T (p.Asp195Val)
|
rs143207434
|
0.01101
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_001360.3(DHCR7):c.570C>T (p.Ala190=)
|
rs74909468
|
0.01097
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
NM_001035.3(RYR2):c.6440+20C>T
|
rs115755128
|
0.01092
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)
|
rs2227970
|
0.01091
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)
|
rs11098943
|
0.01088
|
NM_000321.3(RB1):c.380+12T>C
|
rs3092881
|
0.01087
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.01079
|
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)
|
rs77555300
|
0.01077
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
NM_001164508.2(NEB):c.5763+4C>T
|
rs78916288
|
0.01075
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=)
|
rs2499482
|
0.01071
|
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)
|
rs34629171
|
0.01070
|
NM_020778.5(ALPK3):c.401G>A (p.Arg134His)
|
rs34407151
|
0.01062
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys)
|
rs41274090
|
0.01060
|
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu)
|
rs111965755
|
0.01059
|
NM_005633.4(SOS1):c.1203-20T>C
|
rs112906251
|
0.01058
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_002471.4(MYH6):c.2946G>A (p.Glu982=)
|
rs145274612
|
0.01048
|
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala)
|
rs17850455
|
0.01048
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)
|
rs41289902
|
0.01045
|
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)
|
rs34397615
|
0.01042
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)
|
rs77565483
|
0.01032
|
NM_001035.3(RYR2):c.11880+13_11880+16del
|
rs199562036
|
0.01032
|
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)
|
rs35530544
|
0.01031
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
NM_001458.5(FLNC):c.2266-14G>C
|
rs75612085
|
0.01030
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)
|
rs117761837
|
0.01028
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_004646.4(NPHS1):c.1930+10C>T
|
rs76131336
|
0.01025
|
NM_012186.3(FOXE3):c.423G>A (p.Lys141=)
|
rs145081583
|
0.01025
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
NM_000249.4(MLH1):c.588+11G>C
|
rs4647258
|
0.00993
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=)
|
rs78369334
|
0.00989
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
|
rs142735148
|
0.00983
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=)
|
rs145252235
|
0.00972
|
NM_006767.4(LZTR1):c.2219+13C>T
|
rs144005025
|
0.00972
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_001267550.2(TTN):c.17741-9A>G
|
rs72648944
|
0.00958
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)
|
rs1007211
|
0.00957
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)
|
rs12941376
|
0.00945
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
NM_000137.4(FAH):c.483C>T (p.Gly161=)
|
rs116272698
|
0.00943
|
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys)
|
rs1521808
|
0.00943
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala)
|
rs73346297
|
0.00930
|
NM_005901.6(SMAD2):c.730+11T>A
|
rs191998339
|
0.00929
|
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=)
|
rs112435835
|
0.00928
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)
|
rs62646879
|
0.00919
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=)
|
rs149101873
|
0.00911
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg)
|
rs35372714
|
0.00904
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)
|
rs192289289
|
0.00900
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00900
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala)
|
rs74120667
|
0.00888
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)
|
rs34224785
|
0.00886
|
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=)
|
rs9282539
|
0.00886
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)
|
rs79040751
|
0.00875
|
NM_001164508.2(NEB):c.10347+6C>T
|
rs141088433
|
0.00870
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)
|
rs2020910
|
0.00869
|
NM_022437.3(ABCG8):c.51C>A (p.Pro17=)
|
rs72647316
|
0.00868
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)
|
rs113825926
|
0.00863
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile)
|
rs34810399
|
0.00860
|
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln)
|
rs56054534
|
0.00860
|
NM_004100.5(EYA4):c.1845C>T (p.Asn615=)
|
rs142721902
|
0.00854
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_017668.3(NDE1):c.*384C>T
|
rs193005461
|
0.00847
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_001458.5(FLNC):c.2390-14C>T
|
rs71581921
|
0.00843
|
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)
|
rs71535732
|
0.00843
|
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)
|
rs141087261
|
0.00842
|
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
0.00842
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_000383.4(AIRE):c.1279-18C>T
|
rs72650678
|
0.00839
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)
|
rs17882335
|
0.00827
|
NM_000391.4(TPP1):c.1076-18A>G
|
rs78676565
|
0.00826
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser)
|
rs8178216
|
0.00825
|
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)
|
rs36210417
|
0.00822
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00808
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_001164508.2(NEB):c.24208-7C>T
|
rs113048349
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile)
|
rs34564141
|
0.00790
|
NM_000040.3(APOC3):c.180-16C>T
|
rs5129
|
0.00787
|
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)
|
rs71578975
|
0.00786
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)
|
rs138787974
|
0.00778
|
NM_000642.3(AGL):c.2802A>C (p.Ala934=)
|
rs34230588
|
0.00775
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_138694.4(PKHD1):c.7110-7T>A
|
rs113034899
|
0.00770
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)
|
rs61688134
|
0.00769
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_003764.4(STX11):c.146G>A (p.Arg49Gln)
|
rs17073498
|
0.00767
|
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn)
|
rs34093919
|
0.00763
|
NM_000302.4(PLOD1):c.302+15G>A
|
rs140227667
|
0.00760
|
NM_022725.4(FANCF):c.387C>T (p.Leu129=)
|
rs45556032
|
0.00759
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)
|
rs61730035
|
0.00758
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr)
|
rs75596506
|
0.00755
|
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=)
|
rs17850540
|
0.00755
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=)
|
rs35871586
|
0.00751
|
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr)
|
rs75368761
|
0.00748
|
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=)
|
rs137914723
|
0.00748
|
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)
|
rs59172778
|
0.00742
|
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)
|
rs36084488
|
0.00738
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)
|
rs183329050
|
0.00737
|
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln)
|
rs78351282
|
0.00735
|
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)
|
rs34150427
|
0.00734
|
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
rs76464258
|
0.00733
|
NM_032588.4(TRIM63):c.135G>C (p.Arg45=)
|
rs61760891
|
0.00733
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln)
|
rs56332208
|
0.00731
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=)
|
rs112661328
|
0.00729
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=)
|
rs111638554
|
0.00728
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
NM_001458.5(FLNC):c.6004+11G>A
|
rs117653869
|
0.00719
|
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)
|
rs72646851
|
0.00718
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_006506.5(RASA2):c.2226-5C>T
|
rs112582979
|
0.00714
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_001267550.2(TTN):c.50551+20C>T
|
rs67636125
|
0.00708
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)
|
rs565885690
|
0.00707
|
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
|
rs3218772
|
0.00706
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)
|
rs72646833
|
0.00702
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)
|
rs72648976
|
0.00701
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)
|
rs17354992
|
0.00698
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
NM_022436.3(ABCG5):c.775-10G>T
|
rs114549158
|
0.00688
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_006514.4(SCN10A):c.45C>T (p.Arg15=)
|
rs34314583
|
0.00684
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00682
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00680
|
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)
|
rs62001059
|
0.00679
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)
|
rs2066831
|
0.00677
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
0.00676
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=)
|
rs115227860
|
0.00675
|
NM_000264.5(PTCH1):c.1074T>C (p.His358=)
|
rs2066832
|
0.00674
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
|
rs3218775
|
0.00670
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_000416.3(IFNGR1):c.489C>T (p.Pro163=)
|
rs41288981
|
0.00668
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
NM_005901.6(SMAD2):c.997+18T>G
|
rs139429167
|
0.00667
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
NM_004937.3(CTNS):c.108C>T (p.Asn36=)
|
rs117404824
|
0.00664
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr)
|
rs113984787
|
0.00662
|
NM_017636.4(TRPM4):c.306T>G (p.Val102=)
|
rs111783027
|
0.00662
|
NM_148897.3(SDR9C7):c.55C>G (p.Leu19Val)
|
rs74397593
|
0.00661
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_006073.4(TRDN):c.1538-13T>G
|
rs55704802
|
0.00651
|
NM_006514.4(SCN10A):c.3087+15C>T
|
rs140924179
|
0.00650
|
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp)
|
rs79732150
|
0.00649
|
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn)
|
rs116373583
|
0.00649
|
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)
|
rs55778349
|
0.00647
|
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)
|
rs76767949
|
0.00646
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)
|
rs80340744
|
0.00645
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
NM_002317.7(LOX):c.476C>A (p.Pro159Gln)
|
rs41407546
|
0.00640
|
NM_001458.5(FLNC):c.352+10G>A
|
rs79489893
|
0.00639
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)
|
rs142835596
|
0.00637
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
NM_000416.3(IFNGR1):c.42G>A (p.Val14=)
|
rs17181471
|
0.00633
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)
|
rs558770240
|
0.00630
|
NM_152594.3(SPRED1):c.583-7A>G
|
rs115970207
|
0.00630
|
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)
|
rs61746568
|
0.00630
|
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)
|
rs113467489
|
0.00629
|
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp)
|
rs114406277
|
0.00629
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_152384.3(BBS5):c.620G>A (p.Arg207His)
|
rs35487251
|
0.00625
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)
|
rs115232898
|
0.00622
|
NM_004006.3(DMD):c.3787-18T>C
|
rs72468656
|
0.00621
|
NM_012452.3(TNFRSF13B):c.61+10C>T
|
rs148297590
|
0.00621
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)
|
rs34551839
|
0.00619
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
NM_004304.5(ALK):c.1464C>T (p.Gly488=)
|
rs56165377
|
0.00615
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)
|
rs61752920
|
0.00605
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_001035.3(RYR2):c.14299-12A>G
|
rs41267519
|
0.00603
|
NM_001037.5(SCN1B):c.-9C>A
|
rs66671189
|
0.00603
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)
|
rs186758849
|
0.00601
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
NM_001458.5(FLNC):c.-12G>T
|
rs199842696
|
0.00599
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_175914.5(HNF4A):c.393T>C (p.Asn131=)
|
rs113308087
|
0.00598
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)
|
rs116307796
|
0.00586
|
NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu)
|
rs34879708
|
0.00586
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr)
|
rs72648946
|
0.00585
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg)
|
rs61757673
|
0.00583
|
NM_172351.3(CD46):c.417A>G (p.Leu139=)
|
rs12126088
|
0.00583
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00582
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)
|
rs114008185
|
0.00577
|
NM_004304.5(ALK):c.1719C>T (p.Thr573=)
|
rs74830770
|
0.00577
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)
|
rs45624133
|
0.00575
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_002471.4(MYH6):c.2579G>A (p.Arg860His)
|
rs115845031
|
0.00573
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_001369369.1(FOXN1):c.1215C>T (p.Ser405=)
|
rs116778145
|
0.00572
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
NM_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00570
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu)
|
rs144692793
|
0.00569
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)
|
rs138436961
|
0.00566
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_002709.3(PPP1CB):c.52+15G>T
|
rs113766757
|
0.00563
|
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)
|
rs34139502
|
0.00561
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)
|
rs111309246
|
0.00557
|
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=)
|
rs9282546
|
0.00556
|
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)
|
rs142404759
|
0.00555
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
NM_002230.4(JUP):c.1774-13C>T
|
rs116772523
|
0.00553
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)
|
rs34532796
|
0.00550
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=)
|
rs145833752
|
0.00550
|
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)
|
rs1805362
|
0.00548
|
FIBRINOGEN PARIS 1
|
rs2066862
|
0.00546
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
NM_005585.5(SMAD6):c.711C>T (p.His237=)
|
rs144415105
|
0.00542
|
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val)
|
rs9282573
|
0.00542
|
NM_004004.6(GJB2):c.-23+12G>A
|
rs397516866
|
0.00541
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=)
|
rs35105793
|
0.00536
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly)
|
rs115242287
|
0.00534
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)
|
rs79718972
|
0.00532
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=)
|
rs35273905
|
0.00526
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_001378454.1(ALMS1):c.12362+18A>T
|
rs535484933
|
0.00525
|
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)
|
rs6476
|
0.00523
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
|
rs16980929
|
0.00520
|
NM_006767.4(LZTR1):c.201-8C>T
|
rs183476594
|
0.00520
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)
|
rs28362285
|
0.00518
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)
|
rs56044609
|
0.00516
|
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=)
|
rs114974138
|
0.00514
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
NM_014697.3(NOS1AP):c.864C>T (p.Ser288=)
|
rs77473623
|
0.00513
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_014697.3(NOS1AP):c.1217C>T (p.Ala406Val)
|
rs34398505
|
0.00508
|
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)
|
rs117566084
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_020297.4(ABCC9):c.2644-19G>A
|
rs73254534
|
0.00507
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr)
|
rs150777839
|
0.00506
|
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn)
|
rs188799901
|
0.00505
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)
|
rs114918858
|
0.00501
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
NM_000157.4(GBA1):c.1092G>A (p.Gly364=)
|
rs143222798
|
0.00497
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys)
|
rs35207495
|
0.00496
|
NM_006915.3(RP2):c.260C>T (p.Thr87Ile)
|
rs147783915
|
0.00496
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
NM_000053.4(ATP7B):c.*15C>T
|
rs73498144
|
0.00493
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_001035.3(RYR2):c.1292+20C>T
|
rs182050281
|
0.00493
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
NM_002471.4(MYH6):c.330G>A (p.Ala110=)
|
rs77679218
|
0.00490
|
NM_144670.6(A2ML1):c.3252C>T (p.His1084=)
|
rs61745125
|
0.00490
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=)
|
rs28362268
|
0.00488
|
NM_016169.4(SUFU):c.1291T>C (p.Leu431=)
|
rs141950577
|
0.00487
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_000030.3(AGXT):c.166-14C>T
|
rs180177176
|
0.00486
|
NM_002691.4(POLD1):c.1275C>T (p.Ala425=)
|
rs3219392
|
0.00486
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
|
rs115324397
|
0.00485
|
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)
|
rs11466047
|
0.00484
|
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)
|
rs61733294
|
0.00484
|
NM_001308093.3(GATA4):c.1150-20G>A
|
rs114345849
|
0.00483
|
NM_001378454.1(ALMS1):c.11872+18G>A
|
rs139647347
|
0.00482
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)
|
rs11904444
|
0.00481
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_000088.4(COL1A1):c.612C>T (p.Pro204=)
|
rs138078016
|
0.00480
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
NM_016599.5(MYOZ2):c.76+19C>T
|
rs77591499
|
0.00476
|
NM_004415.4(DSP):c.2630+18C>T
|
rs145963404
|
0.00475
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)
|
rs151295143
|
0.00475
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn)
|
rs10404156
|
0.00473
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile)
|
rs2230017
|
0.00469
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)
|
rs16991652
|
0.00468
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
NM_000152.5(GAA):c.859-21G>A
|
rs185883087
|
0.00465
|
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)
|
rs74348333
|
0.00465
|
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)
|
rs151098394
|
0.00465
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
NM_001267550.2(TTN):c.33742+11A>G
|
rs72650042
|
0.00463
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00462
|
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=)
|
rs17073495
|
0.00461
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)
|
rs34563188
|
0.00460
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)
|
rs201487340
|
0.00458
|
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)
|
rs281865461
|
0.00458
|
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)
|
rs113493395
|
0.00455
|
NM_003001.5(SDHC):c.354T>C (p.Phe118=)
|
rs61733156
|
0.00454
|
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)
|
rs17122769
|
0.00454
|
NM_017636.4(TRPM4):c.755G>A (p.Arg252His)
|
rs146564314
|
0.00453
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
NM_000733.4(CD3E):c.*98_*101dup
|
rs193922618
|
0.00450
|
NM_007078.3(LDB3):c.1014A>G (p.Thr338=)
|
rs150209221
|
0.00450
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
NM_020297.4(ABCC9):c.285-16G>A
|
rs144825585
|
0.00448
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)
|
rs73481453
|
0.00444
|
NM_002471.4(MYH6):c.2168+17C>A
|
rs192337153
|
0.00443
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00442
|
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=)
|
rs149639365
|
0.00441
|
NM_004281.4(BAG3):c.231G>A (p.Pro77=)
|
rs143752613
|
0.00441
|
NM_032588.4(TRIM63):c.*2G>A
|
rs77965623
|
0.00441
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu)
|
rs17215402
|
0.00439
|
NM_005562.3(LAMC2):c.2422C>G (p.Pro808Ala)
|
rs144355456
|
0.00439
|
NM_006258.4(PRKG1):c.426C>T (p.Asp142=)
|
rs55754654
|
0.00439
|
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro)
|
rs17175350
|
0.00438
|
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=)
|
rs139129844
|
0.00438
|
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)
|
rs145756111
|
0.00437
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
NM_004006.3(DMD):c.1718C>T (p.Ala573Val)
|
rs5972599
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000237.3(LPL):c.430-6C>T
|
rs11570897
|
0.00432
|
NM_006506.5(RASA2):c.26C>T (p.Ala9Val)
|
rs200191034
|
0.00432
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)
|
rs142993240
|
0.00430
|
NM_016169.4(SUFU):c.210T>C (p.Tyr70=)
|
rs35166585
|
0.00430
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu)
|
rs35706152
|
0.00428
|
NM_020297.4(ABCC9):c.142+15dup
|
rs571187142
|
0.00428
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)
|
rs61757478
|
0.00427
|
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp)
|
rs7914192
|
0.00426
|
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp)
|
rs35734447
|
0.00426
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00425
|
NM_016169.4(SUFU):c.12G>A (p.Leu4=)
|
rs189234140
|
0.00425
|
NM_002317.7(LOX):c.740+6G>A
|
rs41478244
|
0.00424
|
NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr)
|
rs115216814
|
0.00424
|
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
|
rs147405081
|
0.00423
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu)
|
rs72547554
|
0.00421
|
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_000391.4(TPP1):c.42C>A (p.Ile14=)
|
rs35903915
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
|
rs147240502
|
0.00417
|
NM_000249.4(MLH1):c.453+25A>G
|
rs4647246
|
0.00414
|
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
0.00414
|
NM_014000.3(VCL):c.1177-15C>T
|
rs115083446
|
0.00414
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)
|
rs34990188
|
0.00411
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)
|
rs41285129
|
0.00407
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys)
|
rs151155518
|
0.00406
|
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)
|
rs116592778
|
0.00406
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)
|
rs34691365
|
0.00404
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly)
|
rs77323602
|
0.00404
|
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp)
|
rs35249198
|
0.00403
|
NM_001458.5(FLNC):c.1549+15C>A
|
rs181134489
|
0.00403
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)
|
rs55761650
|
0.00401
|
NM_000162.5(GCK):c.618G>A (p.Thr206=)
|
rs142817246
|
0.00400
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_005502.4(ABCA1):c.651A>G (p.Leu217=)
|
rs9282538
|
0.00399
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_022132.5(MCCC2):c.282-7G>A
|
rs115078899
|
0.00399
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)
|
rs66839174
|
0.00398
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)
|
rs7587103
|
0.00394
|
NM_004655.4(AXIN2):c.1410C>T (p.His470=)
|
rs149483825
|
0.00394
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
0.00389
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00387
|
NM_004646.4(NPHS1):c.1758-8T>G
|
rs187501631
|
0.00387
|
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro)
|
rs28730751
|
0.00387
|
NM_016938.5(EFEMP2):c.161-10C>T
|
rs2234461
|
0.00387
|
NM_025074.7(FRAS1):c.5665+18A>T
|
rs140398472
|
0.00387
|
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=)
|
rs114957070
|
0.00386
|
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe)
|
rs187400273
|
0.00386
|
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys)
|
rs147312193
|
0.00385
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_002474.3(MYH11):c.2520+17A>G
|
rs185697714
|
0.00383
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser)
|
rs115292211
|
0.00382
|
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=)
|
rs116046586
|
0.00382
|
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=)
|
rs139835626
|
0.00382
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00381
|
NM_014000.3(VCL):c.1542C>T (p.Val514=)
|
rs7904077
|
0.00380
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)
|
rs112306225
|
0.00377
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_006270.5(RRAS):c.408C>T (p.Pro136=)
|
rs114187560
|
0.00377
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=)
|
rs2234457
|
0.00375
|
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg)
|
rs112954500
|
0.00374
|
NM_000071.3(CBS):c.1039+19C>T
|
rs182908734
|
0.00373
|
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)
|
rs58599399
|
0.00373
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
NM_003060.4(SLC22A5):c.1451-16G>A
|
rs140988771
|
0.00371
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_000039.3(APOA1):c.732C>G (p.Pro244=)
|
rs5080
|
0.00368
|
NM_002234.4(KCNA5):c.570C>T (p.Asn190=)
|
rs12720444
|
0.00368
|
NM_001035.3(RYR2):c.13566C>T (p.Val4522=)
|
rs57360419
|
0.00366
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_175914.5(HNF4A):c.696C>T (p.His232=)
|
rs150078978
|
0.00365
|
NM_001267550.2(TTN):c.66160+16G>A
|
rs149714835
|
0.00364
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu)
|
rs61734494
|
0.00363
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_004304.5(ALK):c.4836G>A (p.Lys1612=)
|
rs78174819
|
0.00363
|
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=)
|
rs139155480
|
0.00363
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_000335.5(SCN5A):c.4434+13C>T
|
rs148598985
|
0.00361
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser)
|
rs62640590
|
0.00361
|
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)
|
rs139512700
|
0.00361
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=)
|
rs141225367
|
0.00359
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_014697.3(NOS1AP):c.384C>T (p.Ile128=)
|
rs41271969
|
0.00358
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070
|
0.00358
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
|
rs138423466
|
0.00355
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)
|
rs72648964
|
0.00354
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_001042492.3(NF1):c.4577+12C>T
|
rs17878332
|
0.00352
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_006939.4(SOS2):c.1344G>A (p.Leu448=)
|
rs35530861
|
0.00350
|
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)
|
rs552420470
|
0.00350
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly)
|
rs35605307
|
0.00349
|
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu)
|
rs201352230
|
0.00349
|
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr)
|
rs114449938
|
0.00349
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00348
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
NM_000048.4(ASL):c.556C>A (p.Arg186=)
|
rs111407265
|
0.00347
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)
|
rs5744950
|
0.00346
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)
|
rs2234462
|
0.00344
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)
|
rs139161034
|
0.00343
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala)
|
rs61741040
|
0.00340
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
NM_016938.5(EFEMP2):c.368-18G>A
|
rs80047413
|
0.00337
|
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)
|
rs147536058
|
0.00336
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
|
rs67376798
|
0.00334
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)
|
rs116316039
|
0.00334
|
NM_148897.3(SDR9C7):c.215G>A (p.Arg72Gln)
|
rs61743538
|
0.00334
|
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)
|
rs141477666
|
0.00334
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
|
rs11539789
|
0.00333
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00332
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_012186.3(FOXE3):c.601G>A (p.Val201Met)
|
rs530072475
|
0.00329
|
NM_001386795.1(DTNA):c.1435-19T>C
|
rs141620769
|
0.00328
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)
|
rs72646891
|
0.00322
|
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met)
|
rs114842875
|
0.00322
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_006231.4(POLE):c.123G>A (p.Thr41=)
|
rs5744734
|
0.00320
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
NR_003051.4(RMRP):n.129G>C
|
rs74810894
|
0.00319
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
NM_004281.4(BAG3):c.181-9T>A
|
rs139232658
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=)
|
rs34510365
|
0.00316
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
NM_001267550.2(TTN):c.25921+20G>A
|
rs148460010
|
0.00315
|
NM_004628.5(XPC):c.2066C>T (p.Thr689Met)
|
rs3731152
|
0.00315
|
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=)
|
rs115972723
|
0.00315
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_001267550.2(TTN):c.31847-17A>G
|
rs72650025
|
0.00313
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)
|
rs28933390
|
0.00310
|
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)
|
rs74324101
|
0.00310
|
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)
|
rs144486524
|
0.00310
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
NM_002471.4(MYH6):c.1071C>T (p.Ile357=)
|
rs58131640
|
0.00309
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_005993.5(TBCD):c.2852+3A>G
|
rs187081192
|
0.00308
|
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly)
|
rs72648931
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00307
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_000383.4(AIRE):c.1116G>A (p.Ser372=)
|
rs61737006
|
0.00304
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_005633.4(SOS1):c.2673+14T>C
|
rs183998234
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
NM_000397.4(CYBB):c.654C>A (p.Gly218=)
|
rs35080474
|
0.00303
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys)
|
rs149946443
|
0.00303
|
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)
|
rs138281308
|
0.00302
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_002163.4(IRF8):c.602C>T (p.Ala201Val)
|
rs144424711
|
0.00301
|
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)
|
rs114124210
|
0.00301
|
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)
|
rs28903085
|
0.00300
|
NM_001063.4(TF):c.2012G>A (p.Gly671Glu)
|
rs121918677
|
0.00299
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_006767.4(LZTR1):c.2373C>T (p.His791=)
|
rs148993324
|
0.00299
|
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)
|
rs111033458
|
0.00299
|
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val)
|
rs144615758
|
0.00298
|
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=)
|
rs61757672
|
0.00298
|
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=)
|
rs142023670
|
0.00298
|
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)
|
rs28730858
|
0.00297
|
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
0.00297
|
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)
|
rs34972246
|
0.00297
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775
|
0.00296
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_002691.4(POLD1):c.783C>T (p.Val261=)
|
rs34269084
|
0.00296
|
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val)
|
rs142729919
|
0.00296
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_002317.7(LOX):c.204C>T (p.Arg68=)
|
rs201057539
|
0.00294
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_000238.4(KCNH2):c.3152+12C>A
|
rs72549420
|
0.00293
|
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
|
rs73038337
|
0.00293
|
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)
|
rs72647870
|
0.00293
|
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
|
rs116679717
|
0.00293
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000178.4(GSS):c.941C>T (p.Pro314Leu)
|
rs75863437
|
0.00292
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
NM_000238.4(KCNH2):c.621C>T (p.Ser207=)
|
rs41314417
|
0.00289
|
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)
|
rs35819696
|
0.00289
|
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=)
|
rs2229972
|
0.00289
|
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val)
|
rs36002219
|
0.00289
|
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=)
|
rs146960060
|
0.00289
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)
|
rs75031300
|
0.00287
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)
|
rs587780375
|
0.00286
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_001032283.3(TMPO):c.565+1240G>A
|
rs139700737
|
0.00284
|
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)
|
rs148915045
|
0.00284
|
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)
|
rs35691189
|
0.00284
|
NM_005591.4(MRE11):c.1783+5G>C
|
rs142082313
|
0.00284
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=)
|
rs61737781
|
0.00283
|
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val)
|
rs143035190
|
0.00283
|
NM_016363.5(GP6):c.307C>G (p.Leu103Val)
|
rs28969501
|
0.00283
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
NM_001458.5(FLNC):c.7780+10A>G
|
rs201149834
|
0.00281
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)
|
rs144829356
|
0.00280
|
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)
|
rs114079815
|
0.00280
|
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)
|
rs72468638
|
0.00279
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser)
|
rs139963188
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_032578.4(MYPN):c.1079-18T>C
|
rs114932559
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_004100.5(EYA4):c.804+16G>T
|
rs13362743
|
0.00276
|
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=)
|
rs149408382
|
0.00276
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=)
|
rs17850194
|
0.00273
|
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)
|
rs72648980
|
0.00273
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_003480.4(MFAP5):c.6G>A (p.Ser2=)
|
rs4132450
|
0.00272
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)
|
rs150880478
|
0.00272
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_005184.4(CALM3):c.201G>A (p.Pro67=)
|
rs34089805
|
0.00271
|
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=)
|
rs116156469
|
0.00271
|
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His)
|
rs143832120
|
0.00271
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
NM_003036.4(SKI):c.1527C>T (p.Ser509=)
|
rs111935632
|
0.00270
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00270
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
NM_024426.6(WT1):c.181C>A (p.Arg61=)
|
rs2234581
|
0.00270
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_001148.6(ANK2):c.1401A>G (p.Ala467=)
|
rs142159132
|
0.00269
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
0.00269
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
NM_000038.6(APC):c.4893T>C (p.Ser1631=)
|
rs35634377
|
0.00268
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
|
rs143708308
|
0.00268
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)
|
rs45489099
|
0.00267
|
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=)
|
rs116128106
|
0.00267
|
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
NM_014000.3(VCL):c.3258+10A>T
|
rs71579379
|
0.00267
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=)
|
rs76685232
|
0.00265
|
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)
|
rs140350441
|
0.00265
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=)
|
rs1803241
|
0.00265
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)
|
rs72646823
|
0.00264
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)
|
rs149075285
|
0.00263
|
NM_005751.5(AKAP9):c.1053A>G (p.Lys351=)
|
rs368967178
|
0.00263
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=)
|
rs80133984
|
0.00262
|
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)
|
rs148468628
|
0.00262
|
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His)
|
rs34086871
|
0.00262
|
NM_007373.4(SHOC2):c.1302C>T (p.Asn434=)
|
rs146147503
|
0.00262
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)
|
rs28362286
|
0.00262
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_020297.4(ABCC9):c.2093-7T>C
|
rs185235724
|
0.00261
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_002230.4(JUP):c.2025T>C (p.His675=)
|
rs140670556
|
0.00259
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
NM_002230.4(JUP):c.1159-13C>A
|
rs201627219
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000233.4(LHCGR):c.458+3A>G
|
rs76210637
|
0.00257
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)
|
rs114896457
|
0.00256
|
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=)
|
rs201247776
|
0.00256
|
NM_000038.6(APC):c.3264G>A (p.Lys1088=)
|
rs114774495
|
0.00255
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000527.5(LDLR):c.*13A>G
|
rs72658871
|
0.00255
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_013266.4(CTNNA3):c.483C>T (p.Leu161=)
|
rs74142830
|
0.00255
|
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)
|
rs114706984
|
0.00254
|
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser)
|
rs61732851
|
0.00254
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)
|
rs137953986
|
0.00253
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_000081.4(LYST):c.2363+4T>C
|
rs201398337
|
0.00252
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_000335.5(SCN5A):c.1890+14G>A
|
rs145427253
|
0.00252
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
NM_001458.5(FLNC):c.4737+15A>G
|
rs182734223
|
0.00252
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)
|
rs139223781
|
0.00251
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)
|
rs76177450
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys)
|
rs147900972
|
0.00249
|
NM_000243.3(MEFV):c.1587+18C>T
|
rs11466030
|
0.00248
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_006514.4(SCN10A):c.3229-20C>T
|
rs73825880
|
0.00248
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
NM_014000.3(VCL):c.2023-20A>G
|
rs143756084
|
0.00247
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)
|
rs147953465
|
0.00245
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
|
rs201446579
|
0.00245
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
0.00245
|
NM_005159.5(ACTC1):c.454+9G>A
|
rs148695567
|
0.00245
|
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)
|
rs143584663
|
0.00245
|
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=)
|
rs145249947
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
NM_001134363.3(RBM20):c.150A>T (p.Pro50=)
|
rs376936285
|
0.00244
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)
|
rs74114618
|
0.00243
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_001711.6(BGN):c.357C>T (p.Leu119=)
|
rs146322407
|
0.00243
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=)
|
rs45437099
|
0.00242
|
NM_001085049.3(MRAS):c.306C>T (p.His102=)
|
rs138905383
|
0.00242
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro)
|
rs143894795
|
0.00241
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_001711.6(BGN):c.573C>T (p.Gly191=)
|
rs148808913
|
0.00240
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
NM_006231.4(POLE):c.51C>G (p.Gly17=)
|
rs780436496
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
NM_000093.5(COL5A1):c.110-19T>C
|
rs148294644
|
0.00239
|
NM_001035.3(RYR2):c.6441-19C>T
|
rs140440259
|
0.00239
|
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)
|
rs61756328
|
0.00239
|
NM_000048.4(ASL):c.162C>T (p.Leu54=)
|
rs140221164
|
0.00238
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00238
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
NM_002471.4(MYH6):c.1449C>T (p.Asn483=)
|
rs145447555
|
0.00238
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_174936.4(PCSK9):c.1681+17G>A
|
rs200529774
|
0.00238
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_001035.3(RYR2):c.2204-16G>T
|
rs368648602
|
0.00235
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)
|
rs121913212
|
0.00235
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)
|
rs113491038
|
0.00235
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_000237.3(LPL):c.429+20A>C
|
rs3735959
|
0.00233
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=)
|
rs34964168
|
0.00232
|
NM_001308093.3(GATA4):c.462C>T (p.Phe154=)
|
rs56348550
|
0.00232
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_005911.6(MAT2A):c.108A>G (p.Gln36=)
|
rs115257622
|
0.00232
|
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
|
rs79182520
|
0.00232
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met)
|
rs121434235
|
0.00230
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_006949.4(STXBP2):c.365G>A (p.Arg122His)
|
rs144914451
|
0.00229
|
NM_053025.4(MYLK):c.24C>G (p.Ala8=)
|
rs78118111
|
0.00229
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
NM_000238.4(KCNH2):c.558C>T (p.Gly186=)
|
rs139533994
|
0.00228
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_014000.3(VCL):c.1671C>T (p.Asp557=)
|
rs137877092
|
0.00228
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)
|
rs142688906
|
0.00227
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_001024613.4(FEZF1):c.937-10T>G
|
rs369157481
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)
|
rs201554140
|
0.00225
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)
|
rs116105846
|
0.00224
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_016938.5(EFEMP2):c.368-4G>A
|
rs111550973
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg)
|
rs145125264
|
0.00222
|
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)
|
rs141191319
|
0.00222
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00222
|
NM_006506.5(RASA2):c.1020+20G>A
|
rs113251297
|
0.00222
|
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=)
|
rs117346988
|
0.00222
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu)
|
rs61736876
|
0.00221
|
NM_000527.5(LDLR):c.2390-16G>A
|
rs183496025
|
0.00221
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu)
|
rs149879954
|
0.00221
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_001001548.3(CD36):c.429+2T>C
|
rs3211893
|
0.00220
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
NM_005911.6(MAT2A):c.501A>G (p.Leu167=)
|
rs75623534
|
0.00220
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)
|
rs138506461
|
0.00219
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp)
|
rs80203202
|
0.00219
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
NM_004281.4(BAG3):c.-17G>A
|
rs200388926
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter)
|
rs141733590
|
0.00217
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)
|
rs117880912
|
0.00217
|
NM_001267550.2(TTN):c.1398+18A>G
|
rs72647849
|
0.00217
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser)
|
rs148356370
|
0.00217
|
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)
|
rs149602485
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_000416.3(IFNGR1):c.216A>G (p.Glu72=)
|
rs141574133
|
0.00216
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_005732.4(RAD50):c.2670G>A (p.Gln890=)
|
rs112241748
|
0.00216
|
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)
|
rs139010200
|
0.00216
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=)
|
rs34785693
|
0.00215
|
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)
|
rs79232842
|
0.00215
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_005502.4(ABCA1):c.2089G>A (p.Ala697Thr)
|
rs114620717
|
0.00215
|
NM_005911.6(MAT2A):c.318G>T (p.Val106=)
|
rs72940560
|
0.00215
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
NM_000352.6(ABCC8):c.4545+13C>T
|
rs78338172
|
0.00212
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_001061.7(TBXAS1):c.1270C>T (p.Arg424Cys)
|
rs5762
|
0.00212
|
NM_001267550.2(TTN):c.1068G>A (p.Glu356=)
|
rs144716589
|
0.00212
|
NM_001458.5(FLNC):c.2889G>A (p.Pro963=)
|
rs191892345
|
0.00212
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
NM_053025.4(MYLK):c.755-12C>T
|
rs138877679
|
0.00212
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_004625.4(WNT7A):c.861G>A (p.Val287=)
|
rs149962459
|
0.00210
|
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360
|
0.00209
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_001005242.3(PKP2):c.972G>A (p.Ala324=)
|
rs142636176
|
0.00208
|
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)
|
rs140926982
|
0.00208
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00208
|
NM_001330.5(CTF1):c.591C>G (p.Pro197=)
|
rs397516652
|
0.00208
|
NM_002471.4(MYH6):c.3979-7dup
|
rs545343612
|
0.00208
|
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=)
|
rs150081280
|
0.00208
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
NM_001035.3(RYR2):c.2396+17T>G
|
rs376363428
|
0.00207
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg)
|
rs79149293
|
0.00207
|
NM_000116.5(TAFAZZIN):c.646+14C>T
|
rs191527230
|
0.00206
|
NM_000383.4(AIRE):c.1566+8C>T
|
rs72650680
|
0.00206
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
NM_001267550.2(TTN):c.87707-4G>T
|
rs201770959
|
0.00206
|
NM_001625.4(AK2):c.602A>T (p.Tyr201Phe)
|
rs113711467
|
0.00206
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu)
|
rs121913208
|
0.00206
|
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=)
|
rs61735044
|
0.00206
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)
|
rs201074268
|
0.00204
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
NM_001005242.3(PKP2):c.2168-19T>A
|
rs527736735
|
0.00203
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=)
|
rs140495935
|
0.00202
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
0.00202
|
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
|
rs121908108
|
0.00202
|
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)
|
rs145520397
|
0.00201
|
NM_001354604.2(MITF):c.366C>T (p.His122=)
|
rs140663277
|
0.00201
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_033337.3(CAV3):c.-1G>A
|
rs74377241
|
0.00201
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)
|
rs66785829
|
0.00200
|
NM_001267550.2(TTN):c.69412+10G>C
|
rs72646883
|
0.00200
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_000117.3(EMD):c.399+18C>T
|
rs182540760
|
0.00199
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
NM_001999.4(FBN2):c.-17C>G
|
rs372089451
|
0.00199
|
NM_002471.4(MYH6):c.4416A>G (p.Ser1472=)
|
rs140800076
|
0.00199
|
NM_000153.4(GALC):c.195+19G>A
|
rs189853941
|
0.00198
|
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)
|
rs55824996
|
0.00198
|
NM_000363.5(TNNI3):c.273G>A (p.Ala91=)
|
rs75491697
|
0.00198
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
NM_001358263.1(HK1):c.75+20082A>G
|
rs187500777
|
0.00198
|
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)
|
rs572545726
|
0.00198
|
NM_004006.3(DMD):c.10087-20C>T
|
rs41303187
|
0.00198
|
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=)
|
rs13306077
|
0.00198
|
NM_006231.4(POLE):c.2106G>T (p.Gly702=)
|
rs5744801
|
0.00198
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=)
|
rs143972075
|
0.00198
|
NM_032578.4(MYPN):c.1893G>A (p.Arg631=)
|
rs145440469
|
0.00198
|
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)
|
rs200378865
|
0.00197
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_000053.4(ATP7B):c.3060+16G>T
|
rs76163470
|
0.00196
|
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)
|
rs45522138
|
0.00196
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp)
|
rs112319661
|
0.00195
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
NM_015141.4(GPD1L):c.981G>A (p.Val327=)
|
rs144877595
|
0.00195
|
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln)
|
rs35962301
|
0.00195
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00194
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)
|
rs61754871
|
0.00194
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_014000.3(VCL):c.1353-19G>A
|
rs145537824
|
0.00193
|
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=)
|
rs76458291
|
0.00193
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=)
|
rs56108371
|
0.00192
|
NM_005502.4(ABCA1):c.2338-17T>C
|
rs182899836
|
0.00192
|
NM_013266.4(CTNNA3):c.2172A>C (p.Pro724=)
|
rs116662854
|
0.00191
|
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=)
|
rs41291054
|
0.00191
|
NM_174936.4(PCSK9):c.225T>C (p.Pro75=)
|
rs146563151
|
0.00191
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)
|
rs121907970
|
0.00190
|
NM_001042492.3(NF1):c.2553C>T (p.Cys851=)
|
rs2230852
|
0.00190
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00189
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=)
|
rs77249928
|
0.00189
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_001032283.3(TMPO):c.565+1728G>C
|
rs145703021
|
0.00188
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)
|
rs116572520
|
0.00188
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_002691.4(POLD1):c.378C>T (p.Arg126=)
|
rs145324823
|
0.00188
|
NM_005188.4(CBL):c.1359A>C (p.Pro453=)
|
rs34732429
|
0.00188
|
NM_006393.3(NEBL):c.1869+8C>G
|
rs188529864
|
0.00188
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_001235.5(SERPINH1):c.722-13G>A
|
rs116506210
|
0.00185
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_005188.4(CBL):c.870-19del
|
rs548130600
|
0.00185
|
NM_006258.4(PRKG1):c.906A>C (p.Gly302=)
|
rs145917628
|
0.00185
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)
|
rs76757102
|
0.00185
|
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)
|
rs149131555
|
0.00184
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)
|
rs147435410
|
0.00184
|
NM_000237.3(LPL):c.456T>C (p.Asn152=)
|
rs116678290
|
0.00183
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_000527.5(LDLR):c.1545C>T (p.Asn515=)
|
rs147896205
|
0.00183
|
NM_006767.4(LZTR1):c.741C>T (p.Ser247=)
|
rs114458679
|
0.00183
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
NM_001370259.2(MEN1):c.597C>T (p.His199=)
|
rs150512958
|
0.00181
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_016653.3(MAP3K20):c.744+9A>G
|
rs148211031
|
0.00181
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=)
|
rs111888319
|
0.00180
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_001999.4(FBN2):c.5353+19C>T
|
rs183524866
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_006231.4(POLE):c.2561+6T>C
|
rs116231808
|
0.00179
|
NM_033118.4(MYLK2):c.1295+4C>A
|
rs113936360
|
0.00179
|
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)
|
rs143711562
|
0.00178
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_001458.5(FLNC):c.561C>T (p.Asp187=)
|
rs149474376
|
0.00178
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_001079.4(ZAP70):c.1605C>T (p.Tyr535=)
|
rs11889573
|
0.00177
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00177
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
NM_000301.5(PLG):c.1878-6T>C
|
rs192519670
|
0.00175
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
|
rs144812066
|
0.00175
|
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)
|
rs28763923
|
0.00175
|
NM_004281.4(BAG3):c.25A>G (p.Met9Val)
|
rs137965903
|
0.00175
|
NM_005751.5(AKAP9):c.5978-4A>G
|
rs147494754
|
0.00175
|
NM_020778.5(ALPK3):c.3965+11G>A
|
rs117116043
|
0.00175
|
NM_001105206.3(LAMA4):c.196-9C>T
|
rs144850734
|
0.00174
|
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile)
|
rs3734292
|
0.00174
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
NM_001037.5(SCN1B):c.448+321G>A
|
rs72558028
|
0.00173
|
NM_001077653.2(TBX20):c.297A>G (p.Lys99=)
|
rs79990622
|
0.00173
|
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
0.00173
|
NM_001943.5(DSG2):c.1652-12C>T
|
rs140850369
|
0.00173
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
NM_001854.4(COL11A1):c.3024+13T>C
|
rs201141572
|
0.00172
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00172
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)
|
rs145553827
|
0.00171
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_001025356.3(ANO6):c.1274G>A (p.Arg425Gln)
|
rs142960268
|
0.00170
|
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu)
|
rs145895389
|
0.00170
|
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)
|
rs190565627
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_013266.4(CTNNA3):c.580-8C>T
|
rs141983252
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
|
rs147744729
|
0.00169
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001377.3(DYNC2H1):c.6894-4G>A
|
rs17100043
|
0.00168
|
NM_001458.5(FLNC):c.2390-9T>C
|
rs368068407
|
0.00168
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_007078.3(LDB3):c.954C>T (p.Pro318=)
|
rs45603139
|
0.00168
|
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)
|
rs71352737
|
0.00168
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
NM_004304.5(ALK):c.3594C>T (p.Leu1198=)
|
rs56071005
|
0.00166
|
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn)
|
rs138880920
|
0.00166
|
NM_030777.4(SLC2A10):c.-15C>T
|
rs377142129
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_000268.4(NF2):c.*4G>A
|
rs141099051
|
0.00165
|
NM_001458.5(FLNC):c.8049C>T (p.Tyr2683=)
|
rs183104951
|
0.00165
|
NM_001852.4(COL9A2):c.250-7T>C
|
rs146943340
|
0.00165
|
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)
|
rs61757261
|
0.00165
|
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg)
|
rs145847114
|
0.00165
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)
|
rs370597107
|
0.00163
|
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)
|
rs115813214
|
0.00163
|
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)
|
rs149096794
|
0.00163
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00163
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr)
|
rs201149160
|
0.00162
|
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=)
|
rs80009262
|
0.00162
|
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala)
|
rs35489395
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_000038.6(APC):c.120G>A (p.Glu40=)
|
rs142720069
|
0.00161
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_001711.6(BGN):c.310G>A (p.Glu104Lys)
|
rs150272427
|
0.00160
|
NM_005502.4(ABCA1):c.1524C>T (p.Asn508=)
|
rs142239617
|
0.00160
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)
|
rs201904226
|
0.00160
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
NM_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
0.00159
|
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile)
|
rs11574115
|
0.00159
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_005502.4(ABCA1):c.2543-3C>T
|
rs139457469
|
0.00159
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00158
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
NM_001370259.2(MEN1):c.-20G>A
|
rs386134244
|
0.00158
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His)
|
rs141856443
|
0.00158
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr)
|
rs150488553
|
0.00158
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs)
|
rs554989865
|
0.00157
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_000238.4(KCNH2):c.1129-18C>T
|
rs78794789
|
0.00156
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_001035.3(RYR2):c.14756+12C>T
|
rs2275693
|
0.00156
|
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=)
|
rs56173868
|
0.00156
|
NM_001267550.2(TTN):c.30598+15C>T
|
rs79685525
|
0.00156
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
NM_004415.4(DSP):c.1920C>T (p.Ile640=)
|
rs74806300
|
0.00156
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_053025.4(MYLK):c.4289-4C>G
|
rs376670657
|
0.00156
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_003480.4(MFAP5):c.410-18G>A
|
rs151240610
|
0.00155
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)
|
rs114782902
|
0.00155
|
NM_006767.4(LZTR1):c.1530C>T (p.His510=)
|
rs190714197
|
0.00155
|
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys)
|
rs79295927
|
0.00155
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
NM_000136.3(FANCC):c.840G>A (p.Ser280=)
|
rs34671520
|
0.00154
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00154
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_032578.4(MYPN):c.1104C>T (p.Gly368=)
|
rs144764983
|
0.00154
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
NM_000040.3(APOC3):c.55+1G>A
|
rs138326449
|
0.00153
|
NM_000245.4(MET):c.654G>A (p.Arg218=)
|
rs35284565
|
0.00153
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_001035.3(RYR2):c.4596+12G>A
|
rs148557427
|
0.00153
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=)
|
rs139493914
|
0.00153
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_022114.4(PRDM16):c.201G>A (p.Pro67=)
|
rs199614349
|
0.00153
|
NM_053025.4(MYLK):c.4620-18G>A
|
rs41305835
|
0.00153
|
NM_053025.4(MYLK):c.5501-20G>A
|
rs186240444
|
0.00153
|
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)
|
rs78028658
|
0.00153
|
NM_001854.4(COL11A1):c.*17A>G
|
rs190728953
|
0.00152
|
NM_002691.4(POLD1):c.971-4G>A
|
rs200144991
|
0.00152
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=)
|
rs41288979
|
0.00151
|
NM_001105206.3(LAMA4):c.4822-3C>T
|
rs191447048
|
0.00151
|
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)
|
rs72646880
|
0.00151
|
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)
|
rs199805060
|
0.00151
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
NM_001378454.1(ALMS1):c.10079-11C>T
|
rs368250605
|
0.00151
|
NM_001458.5(FLNC):c.2389+12C>T
|
rs370526829
|
0.00151
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)
|
rs114549781
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His)
|
rs3213760
|
0.00150
|
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)
|
rs138167675
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_004612.4(TGFBR1):c.-2C>T
|
rs200224304
|
0.00149
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)
|
rs114891564
|
0.00149
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser)
|
rs144907522
|
0.00148
|
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)
|
rs192683347
|
0.00148
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_000363.5(TNNI3):c.109-17C>A
|
rs139150276
|
0.00147
|
NM_000426.4(LAMA2):c.1782+14T>C
|
rs191215452
|
0.00147
|
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn)
|
rs145192583
|
0.00147
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
NM_006361.6(HOXB13):c.735G>A (p.Lys245=)
|
rs138675188
|
0.00147
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)
|
rs200099319
|
0.00147
|
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)
|
rs61752346
|
0.00147
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)
|
rs145204073
|
0.00146
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00146
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00146
|
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)
|
rs28903086
|
0.00146
|
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=)
|
rs61757665
|
0.00146
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_000518.5(HBB):c.432C>T (p.His144=)
|
rs36020563
|
0.00145
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00145
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=)
|
rs115742584
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)
|
rs201892150
|
0.00145
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_005502.4(ABCA1):c.2730T>C (p.Asp910=)
|
rs142473861
|
0.00145
|
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)
|
rs76881554
|
0.00145
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
NM_020433.5(JPH2):c.642G>A (p.Ala214=)
|
rs587780956
|
0.00145
|
NM_022436.3(ABCG5):c.696C>T (p.Val232=)
|
rs72796720
|
0.00145
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu)
|
rs151344452
|
0.00144
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
NM_001458.5(FLNC):c.4456+14G>A
|
rs375227447
|
0.00144
|
NM_003060.4(SLC22A5):c.-149G>A
|
rs57262206
|
0.00144
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=)
|
rs181226362
|
0.00143
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)
|
rs147694734
|
0.00143
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg)
|
rs137854904
|
0.00142
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
NM_001458.5(FLNC):c.3861C>T (p.His1287=)
|
rs375986462
|
0.00142
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)
|
rs72542427
|
0.00142
|
NM_000363.5(TNNI3):c.373-15C>G
|
rs192630178
|
0.00141
|
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310
|
0.00141
|
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)
|
rs150733188
|
0.00141
|
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)
|
rs6706088
|
0.00141
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_001711.6(BGN):c.111C>T (p.Asn37=)
|
rs145819764
|
0.00141
|
NM_004281.4(BAG3):c.549C>G (p.Ser183=)
|
rs112929734
|
0.00141
|
NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=)
|
rs145246003
|
0.00141
|
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)
|
rs28903090
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
NM_000237.3(LPL):c.1128C>T (p.Ile376=)
|
rs299
|
0.00140
|
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)
|
rs111422496
|
0.00140
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_002691.4(POLD1):c.2577C>T (p.Gly859=)
|
rs149366027
|
0.00140
|
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg)
|
rs17883283
|
0.00140
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_020297.4(ABCC9):c.924T>C (p.Asp308=)
|
rs139127928
|
0.00140
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00139
|
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr)
|
rs142409885
|
0.00139
|
NM_001458.5(FLNC):c.5262C>T (p.Tyr1754=)
|
rs369165766
|
0.00139
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_017617.5(NOTCH1):c.2207+16G>A
|
rs200956009
|
0.00139
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_000492.4(CFTR):c.4243-5C>T
|
rs114402068
|
0.00138
|
NM_000548.5(TSC2):c.2565C>T (p.His855=)
|
rs143537386
|
0.00138
|
NM_001110556.2(FLNA):c.942A>G (p.Gly314=)
|
rs200763980
|
0.00138
|
NM_001365276.2(TNXB):c.10046-4C>T
|
rs41267134
|
0.00138
|
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=)
|
rs140670994
|
0.00138
|
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
0.00138
|
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)
|
rs115444936
|
0.00138
|
NM_013975.4(LIG3):c.471C>A (p.Ile157=)
|
rs61749869
|
0.00138
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_030662.3(MAP2K2):c.*19C>T
|
rs145743390
|
0.00138
|
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp)
|
rs77431272
|
0.00138
|
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)
|
rs147218173
|
0.00138
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000071.3(CBS):c.1359-14C>T
|
rs115185587
|
0.00137
|
NM_000088.4(COL1A1):c.2236-17C>G
|
rs193922146
|
0.00137
|
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00137
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)
|
rs142401936
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=)
|
rs199802825
|
0.00136
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
0.00136
|
NM_002709.3(PPP1CB):c.27C>T (p.Asp9=)
|
rs141050112
|
0.00136
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=)
|
rs141156177
|
0.00136
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
0.00136
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
NM_001377304.1(GFI1B):c.293C>T (p.Ser98Leu)
|
rs143926538
|
0.00135
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_003235.5(TG):c.1567T>C (p.Ser523Pro)
|
rs116062097
|
0.00135
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_000527.5(LDLR):c.1323C>T (p.Ile441=)
|
rs5933
|
0.00134
|
NM_001134363.3(RBM20):c.1528-16T>C
|
rs191166138
|
0.00134
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00134
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_005141.5(FGB):c.298C>T (p.Pro100Ser)
|
rs2227434
|
0.00134
|
NM_012186.3(FOXE3):c.276C>T (p.Leu92=)
|
rs143712915
|
0.00134
|
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser)
|
rs116314622
|
0.00134
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)
|
rs76708715
|
0.00133
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_000258.3(MYL3):c.81T>C (p.Pro27=)
|
rs147584015
|
0.00133
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu)
|
rs61735035
|
0.00133
|
NM_001458.5(FLNC):c.6005-9T>C
|
rs118124743
|
0.00133
|
NM_001999.4(FBN2):c.5675-12_5675-11insG
|
rs150372632
|
0.00133
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
NM_006790.3(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)
|
rs150602845
|
0.00132
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_000552.5(VWF):c.6303C>A (p.Gly2101=)
|
rs115914543
|
0.00132
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
NM_000416.3(IFNGR1):c.1101G>A (p.Pro367=)
|
rs149761943
|
0.00131
|
NM_000432.4(MYL2):c.279G>A (p.Ala93=)
|
rs28645088
|
0.00131
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_015202.5(KATNIP):c.2051C>A (p.Ser684Tyr)
|
rs144244281
|
0.00131
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)
|
rs56812642
|
0.00130
|
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met)
|
rs147772932
|
0.00130
|
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=)
|
rs142823394
|
0.00130
|
NM_003036.4(SKI):c.1338C>T (p.Leu446=)
|
rs148632347
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)
|
rs35555197
|
0.00130
|
NM_024685.4(BBS10):c.1245T>C (p.His415=)
|
rs147241753
|
0.00130
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
NM_001148.6(ANK2):c.11718G>A (p.Arg3906=)
|
rs35724152
|
0.00128
|
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu)
|
rs200897068
|
0.00128
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu)
|
rs74006838
|
0.00128
|
NM_005633.4(SOS1):c.213+16T>C
|
rs150536159
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000631.5(NCF4):c.271+7G>A
|
rs201881905
|
0.00127
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=)
|
rs145035655
|
0.00127
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00126
|
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr)
|
rs200763256
|
0.00126
|
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val)
|
rs149399707
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000552.5(VWF):c.546G>A (p.Ser182=)
|
rs143054357
|
0.00125
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
NM_016363.5(GP6):c.172C>T (p.Arg58Cys)
|
rs199588110
|
0.00125
|
NM_053025.4(MYLK):c.4415+9A>G
|
rs187964526
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)
|
rs6138
|
0.00124
|
NM_001267550.2(TTN):c.1398+16C>T
|
rs144043280
|
0.00124
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
|
rs72468692
|
0.00124
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys)
|
rs72647862
|
0.00123
|
NM_001267550.2(TTN):c.34453+12C>A
|
rs74930148
|
0.00123
|
NM_001386795.1(DTNA):c.604-14G>T
|
rs397517447
|
0.00123
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
NM_003239.5(TGFB3):c.744C>A (p.Ile248=)
|
rs45477900
|
0.00123
|
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn)
|
rs140344858
|
0.00123
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
NM_006514.4(SCN10A):c.-8A>T
|
rs200901459
|
0.00123
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys)
|
rs192221816
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn)
|
rs145135349
|
0.00123
|
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)
|
rs371075036
|
0.00122
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_006767.4(LZTR1):c.666C>T (p.Gly222=)
|
rs35767542
|
0.00122
|
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr)
|
rs72646509
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
NM_003098.3(SNTA1):c.984C>T (p.Pro328=)
|
rs138863915
|
0.00121
|
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr)
|
rs145662569
|
0.00121
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)
|
rs145183203
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
NM_002471.4(MYH6):c.*8T>C
|
rs201560522
|
0.00120
|
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=)
|
rs55807353
|
0.00120
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)
|
rs79811945
|
0.00119
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_016023.5(OTUD6B):c.-39A>G
|
rs199542428
|
0.00119
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_000335.5(SCN5A):c.4297-14T>C
|
rs56104887
|
0.00117
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_003184.4(TAF2):c.157A>G (p.Ile53Val)
|
rs112002462
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu)
|
rs117304542
|
0.00117
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)
|
rs149333409
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_174936.4(PCSK9):c.525C>T (p.Asp175=)
|
rs148612296
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
NM_002471.4(MYH6):c.1122G>A (p.Ala374=)
|
rs148091079
|
0.00116
|
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)
|
rs149460065
|
0.00116
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp)
|
rs143832637
|
0.00116
|
NM_017617.5(NOTCH1):c.2970-20G>A
|
rs367927174
|
0.00116
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00116
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu)
|
rs41313681
|
0.00115
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=)
|
rs72554029
|
0.00115
|
NM_000335.5(SCN5A):c.1236C>T (p.Val412=)
|
rs45565936
|
0.00114
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)
|
rs45445398
|
0.00114
|
NM_001943.5(DSG2):c.2703A>G (p.Lys901=)
|
rs113591687
|
0.00114
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_004333.6(BRAF):c.1433-19A>G
|
rs369635503
|
0.00114
|
NM_005559.4(LAMA1):c.3164G>A (p.Arg1055Gln)
|
rs150940045
|
0.00114
|
NM_033337.3(CAV3):c.*20G>A
|
rs137946394
|
0.00114
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)
|
rs200900510
|
0.00113
|
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)
|
rs201218828
|
0.00113
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=)
|
rs139770404
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_144573.4(NEXN):c.1618A>G (p.Met540Val)
|
rs201390657
|
0.00113
|
NM_000044.6(AR):c.170T>A (p.Leu57Gln)
|
rs78686797
|
0.00112
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00112
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)
|
rs61729175
|
0.00112
|
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)
|
rs36222275
|
0.00112
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)
|
rs143035953
|
0.00111
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
NM_002474.3(MYH11):c.57C>T (p.Asn19=)
|
rs148464745
|
0.00111
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)
|
rs143189763
|
0.00111
|
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00111
|
NM_006270.5(RRAS):c.379C>T (p.Leu127=)
|
rs145907892
|
0.00111
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)
|
rs201835888
|
0.00110
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)
|
rs200343420
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr)
|
rs139646798
|
0.00109
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_000016.6(ACADM):c.678A>G (p.Ala226=)
|
rs2229249
|
0.00108
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
0.00108
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_006767.4(LZTR1):c.1395G>A (p.Ala465=)
|
rs142418387
|
0.00108
|
NM_015713.5(RRM2B):c.48+96G>C
|
rs200373694
|
0.00108
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
NM_020975.6(RET):c.1197G>A (p.Pro399=)
|
rs148371113
|
0.00108
|
NM_144670.6(A2ML1):c.4061+1G>A
|
rs202067416
|
0.00108
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_001103.4(ACTN2):c.441G>A (p.Ser147=)
|
rs150182164
|
0.00107
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)
|
rs143049740
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_004646.4(NPHS1):c.3482-7A>T
|
rs73928326
|
0.00107
|
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln)
|
rs79530903
|
0.00107
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)
|
rs61495246
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_000337.6(SGCD):c.144G>C (p.Val48=)
|
rs372152495
|
0.00106
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)
|
rs186699871
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
NM_002474.3(MYH11):c.291C>T (p.Asn97=)
|
rs113363750
|
0.00106
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_139076.3(ABRAXAS1):c.-4T>C
|
rs202166386
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_000053.4(ATP7B):c.*16G>A
|
rs193922100
|
0.00105
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00105
|
NM_001852.4(COL9A2):c.151-8T>C
|
rs144162904
|
0.00105
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_003476.5(CSRP3):c.162G>A (p.Ser54=)
|
rs112848043
|
0.00104
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)
|
rs146156937
|
0.00103
|
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)
|
rs143532979
|
0.00103
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
NM_005911.6(MAT2A):c.813T>C (p.Tyr271=)
|
rs149459768
|
0.00103
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)
|
rs201777030
|
0.00102
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
NM_005502.4(ABCA1):c.6555T>G (p.Ser2185=)
|
rs146817777
|
0.00101
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_033118.4(MYLK2):c.102A>G (p.Lys34=)
|
rs28763880
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_000169.3(GLA):c.978G>A (p.Lys326=)
|
rs151195362
|
0.00100
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)
|
rs141721173
|
0.00100
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)
|
rs190369242
|
0.00100
|
NM_024334.3(TMEM43):c.392+16G>A
|
rs150859949
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)
|
rs142307556
|
0.00100
|
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)
|
rs141471029
|
0.00100
|
NM_000270.4(PNP):c.653-4T>C
|
rs199866228
|
0.00099
|
NM_000518.5(HBB):c.316-70C>G
|
rs193922560
|
0.00099
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_001267550.2(TTN):c.39296-13C>T
|
rs372380420
|
0.00099
|
NM_001363711.2(DUOX2):c.567C>T (p.His189=)
|
rs2467829
|
0.00099
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)
|
rs147210663
|
0.00098
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg)
|
rs149919890
|
0.00098
|
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)
|
rs72646842
|
0.00098
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
NM_000038.6(APC):c.5790A>G (p.Gln1930=)
|
rs141152252
|
0.00097
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)
|
rs144122893
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=)
|
rs75650199
|
0.00097
|
NM_006767.4(LZTR1):c.-11G>A
|
rs370616172
|
0.00097
|
NM_006767.4(LZTR1):c.1719C>T (p.Ser573=)
|
rs150897932
|
0.00097
|
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
|
rs147863331
|
0.00096
|
NM_000038.6(APC):c.2262T>G (p.Val754=)
|
rs148987776
|
0.00096
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=)
|
rs34490141
|
0.00096
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)
|
rs200638007
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)
|
rs146610448
|
0.00096
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)
|
rs73973139
|
0.00096
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser)
|
rs145105421
|
0.00096
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
NM_004304.5(ALK):c.2148C>T (p.Ser716=)
|
rs55733526
|
0.00096
|
NM_007078.3(LDB3):c.1653C>T (p.Cys551=)
|
rs45581435
|
0.00096
|
NM_015311.3(OBSL1):c.2407+11A>G
|
rs62191613
|
0.00096
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr)
|
rs17882190
|
0.00095
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_001148.6(ANK2):c.5985G>A (p.Lys1995=)
|
rs116652427
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=)
|
rs34083760
|
0.00095
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)
|
rs138452803
|
0.00094
|
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)
|
rs121912706
|
0.00094
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
NM_001458.5(FLNC):c.6362-17C>G
|
rs368901431
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=)
|
rs141697521
|
0.00094
|
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn)
|
rs61732021
|
0.00094
|
NM_006231.4(POLE):c.1347G>A (p.Thr449=)
|
rs142373951
|
0.00094
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_000071.3(CBS):c.1223+12C>T
|
rs116578198
|
0.00093
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
NM_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)
|
rs568391206
|
0.00093
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
NM_000038.6(APC):c.8043G>C (p.Pro2681=)
|
rs149347068
|
0.00092
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000243.3(MEFV):c.911-12G>A
|
rs372016564
|
0.00092
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)
|
rs59148238
|
0.00092
|
NM_001710.6(CFB):c.837C>G (p.Asp279Glu)
|
rs147564718
|
0.00092
|
NM_002471.4(MYH6):c.1083G>T (p.Gly361=)
|
rs138928022
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)
|
rs144780990
|
0.00092
|
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=)
|
rs141025897
|
0.00092
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_152594.3(SPRED1):c.675C>T (p.Ser225=)
|
rs144764225
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)
|
rs147293964
|
0.00091
|
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)
|
rs186563991
|
0.00091
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser)
|
rs147297895
|
0.00091
|
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala)
|
rs376636291
|
0.00091
|
NM_003036.4(SKI):c.1851G>A (p.Glu617=)
|
rs146789646
|
0.00091
|
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=)
|
rs111624565
|
0.00091
|
NM_022114.4(PRDM16):c.573+17A>G
|
rs370287328
|
0.00091
|
NM_139276.3(STAT3):c.1329C>T (p.Thr443=)
|
rs147955721
|
0.00091
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)
|
rs61732108
|
0.00090
|
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
|
rs138842207
|
0.00090
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
NM_001267550.2(TTN):c.25351+13C>G
|
rs138362885
|
0.00090
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)
|
rs200170585
|
0.00090
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
NM_002230.4(JUP):c.567C>T (p.Val189=)
|
rs35297577
|
0.00090
|
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=)
|
rs144957142
|
0.00090
|
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser)
|
rs137852684
|
0.00090
|
NM_006767.4(LZTR1):c.906G>A (p.Ala302=)
|
rs143128466
|
0.00090
|
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser)
|
rs61746118
|
0.00089
|
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=)
|
rs55845713
|
0.00089
|
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)
|
rs139046510
|
0.00089
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
NM_000433.4(NCF2):c.836C>T (p.Thr279Met)
|
rs13306581
|
0.00088
|
NM_000465.4(BARD1):c.90T>A (p.Gly30=)
|
rs150354152
|
0.00088
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
NM_001077653.2(TBX20):c.501C>T (p.Ser167=)
|
rs75947625
|
0.00088
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile)
|
rs150555123
|
0.00088
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met)
|
rs149616140
|
0.00087
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)
|
rs1805156
|
0.00086
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
NM_001110219.3(GJB6):c.607A>G (p.Met203Val)
|
rs200674715
|
0.00086
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)
|
rs368243641
|
0.00086
|
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val)
|
rs201277979
|
0.00086
|
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met)
|
rs201387092
|
0.00086
|
NM_006258.4(PRKG1):c.312-12C>G
|
rs371409852
|
0.00086
|
NM_006270.5(RRAS):c.573-12G>A
|
rs201690554
|
0.00086
|
NM_006506.5(RASA2):c.2514G>C (p.Gly838=)
|
rs114158487
|
0.00086
|
NM_014000.3(VCL):c.1572C>T (p.Ala524=)
|
rs138566234
|
0.00086
|
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)
|
rs148035648
|
0.00085
|
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)
|
rs75648145
|
0.00085
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_016343.4(CENPF):c.4520C>T (p.Ser1507Phe)
|
rs145589304
|
0.00085
|
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
|
rs142244640
|
0.00084
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_001035.3(RYR2):c.231G>A (p.Ala77=)
|
rs376225470
|
0.00084
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00084
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
NM_174936.4(PCSK9):c.1929C>T (p.His643=)
|
rs145770391
|
0.00084
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000081.4(LYST):c.3507C>T (p.Leu1169=)
|
rs74861744
|
0.00083
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
NM_002691.4(POLD1):c.612C>T (p.His204=)
|
rs147881471
|
0.00083
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
NM_004415.4(DSP):c.741G>A (p.Ala247=)
|
rs2806234
|
0.00083
|
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg)
|
rs150101848
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000063.6(C2):c.2171C>T (p.Pro724Leu)
|
rs145050210
|
0.00081
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
NM_000545.8(HNF1A):c.1107+9C>G
|
rs17847497
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001267550.2(TTN):c.36701-16A>G
|
rs577899845
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_005502.4(ABCA1):c.720+6T>C
|
rs188308962
|
0.00081
|
NM_032578.4(MYPN):c.1293C>A (p.Ile431=)
|
rs147184158
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
NM_001110556.2(FLNA):c.3805+16G>A
|
rs201016252
|
0.00080
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
NM_002471.4(MYH6):c.735+16C>T
|
rs76202841
|
0.00080
|
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)
|
rs181744522
|
0.00080
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_006231.4(POLE):c.3747G>A (p.Val1249=)
|
rs80290414
|
0.00080
|
NM_139076.3(ABRAXAS1):c.917T>C (p.Val306Ala)
|
rs138986552
|
0.00080
|
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala)
|
rs200618482
|
0.00080
|
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp)
|
rs200964353
|
0.00080
|
NM_181507.2(HPS5):c.109-10_109-9del
|
rs557184781
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)
|
rs41314354
|
0.00079
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000117.3(EMD):c.466G>A (p.Gly156Ser)
|
rs144594695
|
0.00078
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000257.4(MYH7):c.261C>T (p.Ile87=)
|
rs148560996
|
0.00078
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
NM_001267550.2(TTN):c.98683+7G>C
|
rs141150066
|
0.00078
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00078
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
NM_014875.3(KIF14):c.1753T>C (p.Phe585Leu)
|
rs201600249
|
0.00078
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
NM_053025.4(MYLK):c.373+18C>T
|
rs140559450
|
0.00078
|
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)
|
rs138120505
|
0.00078
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)
|
rs17848880
|
0.00077
|
NM_001458.5(FLNC):c.7990+9C>T
|
rs566679569
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)
|
rs77460377
|
0.00077
|
NM_032387.5(WNK4):c.2157+6G>C
|
rs61755607
|
0.00077
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile)
|
rs200562865
|
0.00076
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr)
|
rs150817714
|
0.00076
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)
|
rs138753870
|
0.00076
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
NM_000335.5(SCN5A):c.2437-13C>T
|
rs45455099
|
0.00076
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
NM_000432.4(MYL2):c.36C>T (p.Gly12=)
|
rs139794370
|
0.00076
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_001110556.2(FLNA):c.720+12C>T
|
rs367894653
|
0.00076
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
NM_001365536.1(SCN9A):c.688+9T>C
|
rs188814235
|
0.00076
|
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=)
|
rs116854981
|
0.00076
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
NM_004655.4(AXIN2):c.270C>T (p.Asp90=)
|
rs141655687
|
0.00076
|
NM_005188.4(CBL):c.2036+9G>T
|
rs142704935
|
0.00076
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)
|
rs140364657
|
0.00076
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00075
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
NM_014000.3(VCL):c.1348A>C (p.Arg450=)
|
rs142128712
|
0.00075
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
|
rs148468627
|
0.00074
|
NM_003280.3(TNNC1):c.201C>T (p.Asp67=)
|
rs150881554
|
0.00074
|
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn)
|
rs146288080
|
0.00074
|
NM_005188.4(CBL):c.1641T>C (p.Pro547=)
|
rs61755280
|
0.00074
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)
|
rs147869493
|
0.00074
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
|
rs117672175
|
0.00073
|
NM_000302.4(PLOD1):c.976-16C>T
|
rs142329815
|
0.00073
|
NM_000393.5(COL5A2):c.2931+11C>T
|
rs184002749
|
0.00073
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=)
|
rs139564374
|
0.00073
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)
|
rs151119732
|
0.00073
|
NM_001943.5(DSG2):c.216+16G>A
|
rs200239610
|
0.00073
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=)
|
rs61751554
|
0.00073
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_152594.3(SPRED1):c.207+15A>G
|
rs377288061
|
0.00073
|
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)
|
rs200206105
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_001371904.1(APOA5):c.165C>G (p.Thr55=)
|
rs138300114
|
0.00072
|
NM_001371904.1(APOA5):c.962A>T (p.His321Leu)
|
rs201201147
|
0.00072
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
NM_004100.5(EYA4):c.277+9G>A
|
rs145320803
|
0.00072
|
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly)
|
rs140365800
|
0.00072
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=)
|
rs148291450
|
0.00072
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=)
|
rs377283955
|
0.00071
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_001164508.2(NEB):c.4720-18C>T
|
rs79402065
|
0.00071
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
NM_001267550.2(TTN):c.1246-16G>A
|
rs72647847
|
0.00071
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
NM_001267550.2(TTN):c.40786+15C>A
|
rs187582271
|
0.00071
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
NM_001267550.2(TTN):c.52406-16G>A
|
rs372221219
|
0.00071
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_006270.5(RRAS):c.453+20C>T
|
rs117957448
|
0.00071
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_053025.4(MYLK):c.4014T>C (p.Pro1338=)
|
rs55669734
|
0.00071
|
NM_145199.3(LIPT1):c.369del (p.Lys123fs)
|
rs552120721
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000451.4(SHOX):c.634-14G>T
|
rs759067813
|
0.00070
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=)
|
rs150671256
|
0.00070
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_005534.4(IFNGR2):c.879+19del
|
rs193922682
|
0.00070
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)
|
rs73668312
|
0.00070
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_020451.3(SELENON):c.1623C>T (p.Asn541=)
|
rs199911454
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_024529.5(CDC73):c.1032T>G (p.Val344=)
|
rs148612206
|
0.00070
|
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)
|
rs145934142
|
0.00070
|
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser)
|
rs142307980
|
0.00070
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_152594.3(SPRED1):c.939G>A (p.Thr313=)
|
rs140644874
|
0.00070
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)
|
rs199794705
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
NM_006767.4(LZTR1):c.453C>T (p.Asp151=)
|
rs142421078
|
0.00069
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
NM_004333.6(BRAF):c.1332G>A (p.Arg444=)
|
rs56101602
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=)
|
rs61733293
|
0.00068
|
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)
|
rs573577299
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)
|
rs9448884
|
0.00068
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)
|
rs149168939
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)
|
rs146426213
|
0.00066
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)
|
rs77416370
|
0.00066
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
NM_007294.4(BRCA1):c.81-12C>G
|
rs80358055
|
0.00066
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=)
|
rs186619828
|
0.00065
|
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)
|
rs143163385
|
0.00065
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=)
|
rs186449817
|
0.00065
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_001625.4(AK2):c.614G>A (p.Gly205Glu)
|
rs202182972
|
0.00065
|
NM_002474.3(MYH11):c.633+1942T>C
|
rs199755371
|
0.00065
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_004484.4(GPC3):c.995A>G (p.Gln332Arg)
|
rs78696048
|
0.00065
|
NM_005666.4(CFHR2):c.760C>T (p.Arg254Ter)
|
rs41313888
|
0.00065
|
NM_005732.4(RAD50):c.671G>A (p.Arg224His)
|
rs28903088
|
0.00065
|
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val)
|
rs150379637
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_006506.5(RASA2):c.2163C>T (p.Asn721=)
|
rs144508155
|
0.00065
|
NM_006767.4(LZTR1):c.1353+8C>G
|
rs75959644
|
0.00065
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)
|
rs201338158
|
0.00065
|
NM_030662.4(MAP2K2):c.1093-6T>C
|
rs369681843
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
NM_000397.4(CYBB):c.338-13C>T
|
rs193922447
|
0.00064
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_000631.5(NCF4):c.647C>T (p.Thr216Met)
|
rs146911421
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00064
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val)
|
rs201460658
|
0.00064
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=)
|
rs143712699
|
0.00064
|
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)
|
rs571095192
|
0.00064
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
0.00064
|
NM_000054.7(AVPR2):c.913G>A (p.Ala305Thr)
|
rs145953185
|
0.00063
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=)
|
rs368930040
|
0.00063
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
NM_001086521.2(NDUFAF8):c.195+271C>T
|
rs745332456
|
0.00063
|
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)
|
rs149243307
|
0.00063
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
NM_001267550.2(TTN):c.6790+12C>T
|
rs200187117
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_004304.5(ALK):c.932G>A (p.Arg311His)
|
rs150966028
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_006767.4(LZTR1):c.543G>A (p.Thr181=)
|
rs151294009
|
0.00063
|
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser)
|
rs200207651
|
0.00063
|
NM_022114.4(PRDM16):c.2406G>A (p.Pro802=)
|
rs368750536
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000053.4(ATP7B):c.1543+13C>T
|
rs200171850
|
0.00062
|
NM_000321.3(RB1):c.1770T>C (p.Cys590=)
|
rs145310579
|
0.00062
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
NM_001195248.2(APTX):c.-5+1G>T
|
rs146487634
|
0.00062
|
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr)
|
rs2234933
|
0.00062
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00062
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_005911.6(MAT2A):c.-15C>T
|
rs202218397
|
0.00062
|
NM_013975.4(LIG3):c.670C>T (p.Arg224Trp)
|
rs3744356
|
0.00062
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
NM_020778.5(ALPK3):c.135C>T (p.Pro45=)
|
rs369591811
|
0.00062
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00062
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
NM_000091.5(COL4A3):c.2020+18A>C
|
rs374992426
|
0.00061
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_001126108.2(SLC12A3):c.2285+8G>A
|
rs199854613
|
0.00061
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)
|
rs371344165
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001267550.2(TTN):c.9703+17T>A
|
rs377693857
|
0.00061
|
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val)
|
rs767058690
|
0.00061
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)
|
rs143180998
|
0.00061
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
NM_006939.4(SOS2):c.621C>T (p.Ile207=)
|
rs147109760
|
0.00061
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser)
|
rs201478459
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_000157.4(GBA1):c.1506-12C>T
|
rs368832292
|
0.00060
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=)
|
rs147069572
|
0.00060
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His)
|
rs200950723
|
0.00060
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_005502.4(ABCA1):c.99A>G (p.Leu33=)
|
rs141151519
|
0.00060
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)
|
rs140556653
|
0.00059
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000237.3(LPL):c.542-8C>T
|
rs201634558
|
0.00059
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=)
|
rs17881903
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=)
|
rs140896887
|
0.00059
|
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)
|
rs140770089
|
0.00058
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)
|
rs200663253
|
0.00058
|
NM_000518.5(HBB):c.316-37G>T
|
rs193922559
|
0.00058
|
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=)
|
rs183192651
|
0.00058
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met)
|
rs200765866
|
0.00058
|
NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)
|
rs190680846
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs)
|
rs750693623
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val)
|
rs201214138
|
0.00057
|
NM_015141.4(GPD1L):c.619-9C>G
|
rs2044880
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000069.3(CACNA1S):c.5049-2A>G
|
rs148989517
|
0.00056
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)
|
rs144072210
|
0.00056
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys)
|
rs143513466
|
0.00056
|
NM_002474.3(MYH11):c.2649G>A (p.Ser883=)
|
rs150943863
|
0.00056
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_005502.4(ABCA1):c.5636+18A>C
|
rs111671370
|
0.00056
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
NM_020975.6(RET):c.262A>G (p.Ile88Val)
|
rs141679950
|
0.00056
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr)
|
rs202179061
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_000257.4(MYH7):c.2163-16A>T
|
rs199538267
|
0.00055
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
NM_004281.4(BAG3):c.870C>G (p.Pro290=)
|
rs140737221
|
0.00055
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)
|
rs1021523079
|
0.00055
|
NM_005502.4(ABCA1):c.1055-7T>C
|
rs199586194
|
0.00055
|
NM_006270.5(RRAS):c.174C>T (p.Tyr58=)
|
rs145282813
|
0.00055
|
NM_006790.3(MYOT):c.1190+12A>G
|
rs183456886
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_000038.6(APC):c.2476T>G (p.Leu826Val)
|
rs145245264
|
0.00054
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
NM_000257.4(MYH7):c.3777C>T (p.His1259=)
|
rs149103761
|
0.00054
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)
|
rs201230446
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_002317.7(LOX):c.918G>A (p.Leu306=)
|
rs201494622
|
0.00054
|
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=)
|
rs140749690
|
0.00054
|
NM_003238.6(TGFB2):c.357G>A (p.Pro119=)
|
rs138514914
|
0.00054
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
NM_005502.4(ABCA1):c.2115+17C>T
|
rs371944946
|
0.00054
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
NM_007294.4(BRCA1):c.301+8T>C
|
rs80358101
|
0.00054
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000064.4(C3):c.3490-10T>G
|
rs372843505
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val)
|
rs200022550
|
0.00053
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
NM_001330.5(CTF1):c.280C>T (p.Leu94=)
|
rs397516648
|
0.00053
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)
|
rs142004123
|
0.00053
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00052
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)
|
rs139066906
|
0.00052
|
NM_000719.7(CACNA1C):c.3156+17G>A
|
rs201709484
|
0.00052
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_001128840.3(CACNA1D):c.2812-14G>T
|
rs369180125
|
0.00052
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_004006.3(DMD):c.832-20C>T
|
rs201026834
|
0.00052
|
NM_006258.4(PRKG1):c.1963-16T>G
|
rs376174664
|
0.00052
|
NM_007373.4(SHOC2):c.1162-16T>G
|
rs376859485
|
0.00052
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000071.3(CBS):c.954+20C>T
|
rs372327925
|
0.00051
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_000719.7(CACNA1C):c.5091+17C>T
|
rs375537358
|
0.00051
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_001103.4(ACTN2):c.927C>T (p.Pro309=)
|
rs145411160
|
0.00051
|
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=)
|
rs146085234
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val)
|
rs143292359
|
0.00051
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)
|
rs77937237
|
0.00051
|
NM_002382.5(MAX):c.*7C>T
|
rs199514174
|
0.00051
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val)
|
rs140990974
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe)
|
rs374403400
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_014000.3(VCL):c.2521G>C (p.Asp841His)
|
rs150385900
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)
|
rs369167693
|
0.00051
|
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
|
rs377384557
|
0.00051
|
NM_022089.4(ATP13A2):c.3405+9C>T
|
rs374766933
|
0.00051
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile)
|
rs144129296
|
0.00051
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)
|
rs117213221
|
0.00051
|
NM_173689.7(CRB2):c.755-12G>A
|
rs199716560
|
0.00051
|
NM_181507.2(HPS5):c.220-9G>C
|
rs200661298
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr)
|
rs148223181
|
0.00050
|
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter)
|
rs76353203
|
0.00050
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_000465.4(BARD1):c.144G>A (p.Leu48=)
|
rs151168457
|
0.00050
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)
|
rs2285895
|
0.00050
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)
|
rs7238500
|
0.00050
|
NM_005633.4(SOS1):c.345+12_345+13dup
|
rs397517167
|
0.00050
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_015311.3(OBSL1):c.4060G>A (p.Val1354Met)
|
rs144083909
|
0.00050
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp)
|
rs200562975
|
0.00049
|
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=)
|
rs140019543
|
0.00049
|
NM_000257.4(MYH7):c.2907C>T (p.His969=)
|
rs142573531
|
0.00049
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_001037.5(SCN1B):c.448+112G>A
|
rs72558026
|
0.00049
|
NM_001148.6(ANK2):c.231G>A (p.Val77=)
|
rs149699185
|
0.00049
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
NM_002230.4(JUP):c.297G>A (p.Ser99=)
|
rs200976464
|
0.00049
|
NM_002317.7(LOX):c.388T>C (p.Ser130Pro)
|
rs139035462
|
0.00049
|
NM_005633.4(SOS1):c.1203-13T>A
|
rs145166996
|
0.00049
|
NM_006767.4(LZTR1):c.652-10C>A
|
rs200169897
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_020297.4(ABCC9):c.4512+16C>T
|
rs376147813
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)
|
rs147977741
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)
|
rs144703247
|
0.00048
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_000258.3(MYL3):c.482-14C>A
|
rs201780962
|
0.00048
|
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=)
|
rs139123130
|
0.00048
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)
|
rs145835705
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=)
|
rs117517372
|
0.00048
|
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)
|
rs150033906
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)
|
rs139330366
|
0.00048
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
NM_006502.3(POLH):c.1433C>T (p.Thr478Met)
|
rs9296419
|
0.00048
|
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly)
|
rs142818468
|
0.00048
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=)
|
rs147599496
|
0.00048
|
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=)
|
rs1799968
|
0.00047
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_000478.6(ALPL):c.744C>T (p.Asp248=)
|
rs188689330
|
0.00047
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)
|
rs2303834
|
0.00047
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)
|
rs144275591
|
0.00047
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile)
|
rs185181365
|
0.00047
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser)
|
rs199610919
|
0.00046
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
NM_000335.5(SCN5A):c.3663+10T>C
|
rs200656652
|
0.00046
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_000497.4(CYP11B1):c.518A>G (p.Lys173Arg)
|
rs142163070
|
0.00046
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)
|
rs147426388
|
0.00046
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
0.00046
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=)
|
rs201483538
|
0.00046
|
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)
|
rs200709879
|
0.00046
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=)
|
rs200573256
|
0.00046
|
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=)
|
rs144726669
|
0.00046
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)
|
rs200062851
|
0.00046
|
NM_006939.4(SOS2):c.1071A>G (p.Gln357=)
|
rs111961549
|
0.00046
|
NM_020433.5(JPH2):c.1137C>A (p.Ile379=)
|
rs143158930
|
0.00046
|
NM_022436.3(ABCG5):c.99G>A (p.Pro33=)
|
rs149907931
|
0.00046
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_144670.6(A2ML1):c.105C>T (p.Ser35=)
|
rs201185025
|
0.00046
|
NM_174936.4(PCSK9):c.1504-7C>T
|
rs72646520
|
0.00046
|
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr)
|
rs56157628
|
0.00045
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
NM_000138.5(FBN1):c.5296+14G>A
|
rs140650
|
0.00045
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_001098671.2(RASGRP2):c.371+7G>T
|
rs181901181
|
0.00045
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)
|
rs55677134
|
0.00045
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
NM_002471.4(MYH6):c.1141+8G>T
|
rs377327277
|
0.00045
|
NM_002471.4(MYH6):c.531-19T>A
|
rs374174532
|
0.00045
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp)
|
rs144759014
|
0.00045
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
NM_144573.4(NEXN):c.732C>A (p.Pro244=)
|
rs201171783
|
0.00045
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)
|
rs138407155
|
0.00044
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)
|
rs200319017
|
0.00044
|
NM_000249.4(MLH1):c.1410-10T>G
|
rs372053184
|
0.00044
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)
|
rs140566426
|
0.00044
|
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=)
|
rs142646329
|
0.00044
|
NM_000552.5(VWF):c.4146G>T (p.Leu1382=)
|
rs140464171
|
0.00044
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His)
|
rs139146419
|
0.00044
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
0.00044
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=)
|
rs145303406
|
0.00044
|
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val)
|
rs147630977
|
0.00044
|
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met)
|
rs377535397
|
0.00044
|
NM_024334.3(TMEM43):c.279C>T (p.Gly93=)
|
rs149883381
|
0.00044
|
NM_030777.4(SLC2A10):c.1548-19C>T
|
rs144623242
|
0.00044
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=)
|
rs200462659
|
0.00044
|
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)
|
rs147070644
|
0.00044
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)
|
rs200162906
|
0.00043
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)
|
rs138870926
|
0.00043
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
NM_001037.5(SCN1B):c.448+314C>A
|
rs373295182
|
0.00043
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00043
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
NM_001267550.2(TTN):c.34856-17A>G
|
rs188686309
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_001267550.2(TTN):c.44014+19G>C
|
rs139264089
|
0.00043
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_004333.6(BRAF):c.2127+3A>G
|
rs371976102
|
0.00043
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_006506.5(RASA2):c.37T>G (p.Ser13Ala)
|
rs747843653
|
0.00043
|
NM_006767.4(LZTR1):c.855C>T (p.Tyr285=)
|
rs140612093
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_000048.4(ASL):c.392C>T (p.Thr131Met)
|
rs143793815
|
0.00042
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)
|
rs373425206
|
0.00042
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
NM_000256.3(MYBPC3):c.926+8C>T
|
rs377595584
|
0.00042
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)
|
rs200285003
|
0.00042
|
NM_000719.7(CACNA1C):c.966C>T (p.His322=)
|
rs112539787
|
0.00042
|
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)
|
rs138262189
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
NM_002294.3(LAMP2):c.*15T>C
|
rs376806600
|
0.00042
|
NM_004360.5(CDH1):c.1138-3C>T
|
rs36103202
|
0.00042
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr)
|
rs184575465
|
0.00042
|
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)
|
rs201692618
|
0.00042
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NR_003051.4(RMRP):n.141A>G
|
rs578091934
|
0.00042
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000093.5(COL5A1):c.924+14G>A
|
rs200595318
|
0.00041
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
NM_000144.5(FXN):c.118C>T (p.Arg40Cys)
|
rs145854903
|
0.00041
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys)
|
rs201406712
|
0.00041
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_000518.4(HBB):c.-51T>C
|
rs386134236
|
0.00041
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_001110792.2(MECP2):c.870C>T (p.Ala290=)
|
rs61750248
|
0.00041
|
NM_001267550.2(TTN):c.30433+11T>G
|
rs199848546
|
0.00041
|
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)
|
rs374281025
|
0.00041
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu)
|
rs80214209
|
0.00041
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys)
|
rs138133010
|
0.00041
|
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro)
|
rs146802994
|
0.00041
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
NM_014704.4(CEP104):c.2621G>A (p.Arg874His)
|
rs139076247
|
0.00041
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=)
|
rs200167919
|
0.00041
|
NM_024334.3(TMEM43):c.45C>A (p.Val15=)
|
rs150334659
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)
|
rs200273207
|
0.00041
|
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)
|
rs142779872
|
0.00041
|
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=)
|
rs200269317
|
0.00041
|
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His)
|
rs200744656
|
0.00041
|
NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
|
rs149369116
|
0.00040
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000238.4(KCNH2):c.2965+14C>T
|
rs201706355
|
0.00040
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
NM_005159.5(ACTC1):c.219C>T (p.Ile73=)
|
rs376566924
|
0.00040
|
NM_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
NM_053025.4(MYLK):c.3653-10_3653-8del
|
rs576620371
|
0.00040
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000214.3(JAG1):c.894T>C (p.Asn298=)
|
rs149897344
|
0.00039
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_000465.4(BARD1):c.348T>C (p.His116=)
|
rs139934362
|
0.00039
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000518.5(HBB):c.316-96G>C
|
rs193922561
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)
|
rs371931287
|
0.00039
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
NM_001267550.2(TTN):c.32197+11G>A
|
rs369265969
|
0.00039
|
NM_001297.5(CNGB1):c.2153G>C (p.Gly718Ala)
|
rs201909863
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)
|
rs116974302
|
0.00039
|
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu)
|
rs201475647
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)
|
rs17879258
|
0.00039
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
NM_006506.5(RASA2):c.540C>T (p.Cys180=)
|
rs148503095
|
0.00039
|
NM_017617.5(NOTCH1):c.3326-11A>C
|
rs377648586
|
0.00039
|
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)
|
rs61755043
|
0.00039
|
NM_017668.3(NDE1):c.948-6833A>G
|
rs111858392
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=)
|
rs76102634
|
0.00039
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_020778.5(ALPK3):c.3966-14T>C
|
rs145646854
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_020975.6(RET):c.2037C>T (p.Pro679=)
|
rs55862116
|
0.00039
|
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)
|
rs201201843
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_139027.6(ADAMTS13):c.415-5C>T
|
rs200230025
|
0.00039
|
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile)
|
rs373276045
|
0.00039
|
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)
|
rs148114532
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
|
rs138933660
|
0.00038
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser)
|
rs200863613
|
0.00038
|
NM_000093.5(COL5A1):c.3690+6T>A
|
rs375998368
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
NM_000391.4(TPP1):c.688-18C>T
|
rs376868997
|
0.00038
|
NM_000393.5(COL5A2):c.745-13G>A
|
rs145442880
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val)
|
rs147512481
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)
|
rs149871856
|
0.00038
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00038
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00038
|
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)
|
rs12615797
|
0.00038
|
NM_001395891.1(CLASP1):c.196-605C>T
|
rs188343279
|
0.00038
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp)
|
rs114613744
|
0.00038
|
NM_004132.5(HABP2):c.207C>T (p.Tyr69=)
|
rs139478887
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=)
|
rs371065166
|
0.00038
|
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=)
|
rs150096625
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_000075.4(CDK4):c.764G>A (p.Arg255His)
|
rs144657355
|
0.00037
|
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
|
rs147091980
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000525.4(KCNJ11):c.37G>A (p.Val13Met)
|
rs139079635
|
0.00037
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr)
|
rs34479952
|
0.00037
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu)
|
rs747464249
|
0.00037
|
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr)
|
rs193922686
|
0.00037
|
NM_020297.4(ABCC9):c.407-13T>C
|
rs199717786
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
NM_033118.4(MYLK2):c.783G>A (p.Pro261=)
|
rs144621796
|
0.00037
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr)
|
rs121918027
|
0.00036
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln)
|
rs182208896
|
0.00036
|
NM_001103.4(ACTN2):c.1975-12C>T
|
rs371352710
|
0.00036
|
NM_001126049.2(KLLN):c.-840G>A
|
rs563841270
|
0.00036
|
NM_001148.6(ANK2):c.2727T>A (p.Thr909=)
|
rs144548535
|
0.00036
|
NM_001267550.2(TTN):c.64654A>G (p.Ile21552Val)
|
rs201247592
|
0.00036
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_002709.3(PPP1CB):c.520+7T>C
|
rs200836202
|
0.00036
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_004006.3(DMD):c.3163-18T>C
|
rs72468662
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00036
|
NM_005732.4(RAD50):c.2397G>C (p.Gln799His)
|
rs61749630
|
0.00036
|
NM_006767.4(LZTR1):c.2511C>T (p.Gly837=)
|
rs202072955
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu)
|
rs377740271
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_024426.6(WT1):c.216G>T (p.Gln72His)
|
rs5030135
|
0.00036
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=)
|
rs138423692
|
0.00036
|
NM_144670.6(A2ML1):c.357G>C (p.Gly119=)
|
rs200671971
|
0.00036
|
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=)
|
rs371033800
|
0.00036
|
NM_144670.6(A2ML1):c.63-4A>G
|
rs200007710
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)
|
rs201820739
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000518.5(HBB):c.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000053.4(ATP7B):c.2448-11G>A
|
rs200450017
|
0.00034
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=)
|
rs376826051
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00034
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
NM_001378789.1(CERS3):c.1102G>A (p.Gly368Ser)
|
rs137899535
|
0.00034
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_002524.5(NRAS):c.360G>A (p.Leu120=)
|
rs143020946
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=)
|
rs142692907
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
|
rs112122950
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_017668.3(NDE1):c.948-2788A>G
|
rs118072250
|
0.00034
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
NM_022114.4(PRDM16):c.1566G>T (p.Leu522Phe)
|
rs554705536
|
0.00034
|
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)
|
rs146618055
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
NM_080669.6(SLC46A1):c.1256A>G (p.Asn419Ser)
|
rs141992236
|
0.00034
|
NM_000038.6(APC):c.5027G>C (p.Arg1676Thr)
|
rs143674116
|
0.00033
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_000268.4(NF2):c.1113C>T (p.Asn371=)
|
rs142459414
|
0.00033
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)
|
rs72554080
|
0.00033
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)
|
rs182074603
|
0.00033
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00033
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_002474.3(MYH11):c.1989G>A (p.Lys663=)
|
rs138581000
|
0.00033
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00033
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)
|
rs140487104
|
0.00033
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
NM_006231.4(POLE):c.6714C>T (p.Cys2238=)
|
rs200082120
|
0.00033
|
NM_007373.4(SHOC2):c.704-16G>T
|
rs185614302
|
0.00033
|
NM_022436.3(ABCG5):c.27C>T (p.Pro9=)
|
rs72542428
|
0.00033
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
NM_174936.4(PCSK9):c.336G>A (p.Leu112=)
|
rs79805678
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000432.4(MYL2):c.342G>A (p.Leu114=)
|
rs199572927
|
0.00032
|
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)
|
rs35691292
|
0.00032
|
NM_001089.3(ABCA3):c.418A>C (p.Asn140His)
|
rs45447801
|
0.00032
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
NM_001148.6(ANK2):c.8727C>T (p.Pro2909=)
|
rs144821187
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.39128-14T>C
|
rs200916144
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.8902+16T>A
|
rs66507451
|
0.00032
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)
|
rs200568988
|
0.00032
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
NM_001458.5(FLNC):c.2568C>T (p.Pro856=)
|
rs201611050
|
0.00032
|
NM_001999.4(FBN2):c.339G>A (p.Pro113=)
|
rs144540627
|
0.00032
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=)
|
rs111940956
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_005359.6(SMAD4):c.102A>G (p.Thr34=)
|
rs146104321
|
0.00032
|
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)
|
rs150125857
|
0.00032
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)
|
rs138749920
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_020778.5(ALPK3):c.1737C>T (p.Ser579=)
|
rs115301935
|
0.00032
|
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)
|
rs149866482
|
0.00032
|
NM_183065.4(TMEM107):c.*638C>T
|
rs368022715
|
0.00032
|
NM_000038.6(APC):c.4905G>A (p.Gly1635=)
|
rs137988845
|
0.00031
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)
|
rs140453525
|
0.00031
|
NM_000093.5(COL5A1):c.3006+17C>T
|
rs140528268
|
0.00031
|
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=)
|
rs370349155
|
0.00031
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_001032283.3(TMPO):c.565+1493A>G
|
rs141347778
|
0.00031
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)
|
rs148615988
|
0.00031
|
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)
|
rs554167951
|
0.00031
|
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)
|
rs143161930
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)
|
rs150450178
|
0.00031
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
NM_004985.5(KRAS):c.451-5565G>A
|
rs200970347
|
0.00031
|
NM_005188.4(CBL):c.1287C>T (p.Ile429=)
|
rs148368481
|
0.00031
|
NM_005751.5(AKAP9):c.948A>G (p.Val316=)
|
rs767404316
|
0.00031
|
NM_006939.4(SOS2):c.2640A>G (p.Ser880=)
|
rs146730136
|
0.00031
|
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met)
|
rs181216956
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)
|
rs374320445
|
0.00031
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=)
|
rs74067815
|
0.00031
|
NM_024334.3(TMEM43):c.442+7G>A
|
rs373590238
|
0.00031
|
NM_031407.7(HUWE1):c.2050-9G>T
|
rs377186422
|
0.00031
|
NM_053025.4(MYLK):c.711C>T (p.Asn237=)
|
rs149407805
|
0.00031
|
NM_053025.4(MYLK):c.754+17G>A
|
rs146661440
|
0.00031
|
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs)
|
rs764429803
|
0.00031
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
|
rs150312046
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
NM_000088.4(COL1A1):c.1768-8C>T
|
rs193922142
|
0.00030
|
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)
|
rs201824781
|
0.00030
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp)
|
rs150911744
|
0.00030
|
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)
|
rs201870762
|
0.00030
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)
|
rs189208539
|
0.00030
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_001943.5(DSG2):c.1280+18G>C
|
rs141175168
|
0.00030
|
NM_002317.7(LOX):c.534T>C (p.Ser178=)
|
rs144768703
|
0.00030
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_002471.4(MYH6):c.4611G>A (p.Val1537=)
|
rs142983918
|
0.00030
|
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)
|
rs72550742
|
0.00030
|
NM_002691.4(POLD1):c.714G>A (p.Thr238=)
|
rs149096523
|
0.00030
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
NM_003280.3(TNNC1):c.108C>A (p.Ile36=)
|
rs202000367
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_030662.4(MAP2K2):c.303+12G>A
|
rs376432107
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000178.4(GSS):c.373C>T (p.Arg125Cys)
|
rs28936396
|
0.00029
|
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=)
|
rs371473271
|
0.00029
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
NM_000268.4(NF2):c.1340+8G>T
|
rs370604189
|
0.00029
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000335.5(SCN5A):c.3388-16A>T
|
rs376625229
|
0.00029
|
NM_000335.5(SCN5A):c.3837+17G>A
|
rs45466091
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_000465.4(BARD1):c.1515G>T (p.Gly505=)
|
rs139721211
|
0.00029
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00029
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)
|
rs186763441
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn)
|
rs45608232
|
0.00029
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.4645+8G>T
|
rs144456585
|
0.00029
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00029
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)
|
rs529839486
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001267550.2(TTN):c.88306+8T>C
|
rs369690199
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu)
|
rs757999676
|
0.00029
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)
|
rs144571463
|
0.00029
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
NM_002474.3(MYH11):c.1502G>A (p.Arg501His)
|
rs144244239
|
0.00029
|
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val)
|
rs144080051
|
0.00029
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)
|
rs184022679
|
0.00029
|
NM_003242.6(TGFBR2):c.263+17A>C
|
rs34771516
|
0.00029
|
NM_005094.4(SLC27A4):c.314G>A (p.Arg105His)
|
rs142664086
|
0.00029
|
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)
|
rs147675550
|
0.00029
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00029
|
NM_006231.4(POLE):c.5496T>C (p.Leu1832=)
|
rs147543146
|
0.00029
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)
|
rs189595832
|
0.00029
|
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)
|
rs199740882
|
0.00029
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00029
|
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=)
|
rs150833333
|
0.00029
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu)
|
rs773812911
|
0.00029
|
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=)
|
rs201562692
|
0.00029
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)
|
rs561197163
|
0.00029
|
NM_207581.4(DUOXA2):c.205+2T>C
|
rs201506037
|
0.00029
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=)
|
rs370945942
|
0.00028
|
NM_000492.4(CFTR):c.1584+12T>C
|
rs193922502
|
0.00028
|
NM_000527.5(LDLR):c.940+16G>A
|
rs72658859
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001035.3(RYR2):c.14809-20C>T
|
rs141119268
|
0.00028
|
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)
|
rs374014662
|
0.00028
|
NM_001194998.2(CEP152):c.3839A>G (p.Asp1280Gly)
|
rs539483307
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)
|
rs75487328
|
0.00028
|
NM_002474.3(MYH11):c.1512C>T (p.Ile504=)
|
rs149630866
|
0.00028
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=)
|
rs148690585
|
0.00028
|
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)
|
rs145068530
|
0.00028
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=)
|
rs55814314
|
0.00028
|
NM_005502.4(ABCA1):c.6018C>T (p.His2006=)
|
rs367815303
|
0.00028
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
NM_014476.6(PDLIM3):c.331-16C>T
|
rs200663921
|
0.00028
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)
|
rs201948472
|
0.00028
|
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=)
|
rs146213855
|
0.00028
|
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)
|
rs142909885
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000179.3(MSH6):c.-18G>T
|
rs199913053
|
0.00027
|
NM_000335.5(SCN5A):c.3837+8T>C
|
rs372405305
|
0.00027
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_000518.5(HBB):c.316-19T>A
|
rs191535077
|
0.00027
|
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=)
|
rs200847105
|
0.00027
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)
|
rs147894075
|
0.00027
|
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=)
|
rs143587921
|
0.00027
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
NM_001267550.2(TTN):c.30433+15A>T
|
rs371872220
|
0.00027
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_002834.3(PTPN11):c.*13A>G
|
rs201957261
|
0.00027
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
NM_006939.4(SOS2):c.294A>G (p.Lys98=)
|
rs149713664
|
0.00027
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_053025.4(MYLK):c.2127G>A (p.Val709=)
|
rs138575251
|
0.00027
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=)
|
rs144984153
|
0.00026
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)
|
rs370122334
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00026
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
NM_001035.3(RYR2):c.14757-19A>G
|
rs190533014
|
0.00026
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
0.00026
|
NM_001103.4(ACTN2):c.1406+8C>T
|
rs397516567
|
0.00026
|
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)
|
rs149433837
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)
|
rs370809363
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00026
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)
|
rs113302393
|
0.00026
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=)
|
rs200592054
|
0.00026
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)
|
rs78439745
|
0.00026
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met)
|
rs148234507
|
0.00026
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
|
rs141989813
|
0.00026
|
NM_006506.5(RASA2):c.2493A>G (p.Arg831=)
|
rs142634033
|
0.00026
|
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)
|
rs587731325
|
0.00026
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
NM_020433.5(JPH2):c.1233G>A (p.Glu411=)
|
rs143061111
|
0.00026
|
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn)
|
rs199895459
|
0.00026
|
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)
|
rs199473676
|
0.00026
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_033343.4(LHX4):c.37G>A (p.Val13Ile)
|
rs146664099
|
0.00026
|
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)
|
rs199988497
|
0.00026
|
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp)
|
rs200503836
|
0.00026
|
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala)
|
rs374408168
|
0.00026
|
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)
|
rs201215628
|
0.00026
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
NM_152594.3(SPRED1):c.377-10A>G
|
rs376134678
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
NM_000432.4(MYL2):c.275-14G>C
|
rs375703502
|
0.00025
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_000535.7(PMS2):c.1242C>T (p.Asp414=)
|
rs142839559
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=)
|
rs200602896
|
0.00025
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
NM_001395891.1(CLASP1):c.196-562G>A
|
rs370715569
|
0.00025
|
NM_001677.4(ATP1B1):c.837C>T (p.Tyr279=)
|
rs145238933
|
0.00025
|
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)
|
rs373264436
|
0.00025
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
NM_002485.5(NBN):c.939G>A (p.Ala313=)
|
rs145750430
|
0.00025
|
NM_002524.5(NRAS):c.112-8A>G
|
rs9724626
|
0.00025
|
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=)
|
rs377720622
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_002880.4(RAF1):c.909A>C (p.Thr303=)
|
rs5746219
|
0.00025
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)
|
rs140463309
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)
|
rs144253015
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_006231.4(POLE):c.1405C>T (p.Leu469=)
|
rs368303888
|
0.00025
|
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val)
|
rs148916790
|
0.00025
|
NM_007078.3(LDB3):c.1971C>T (p.Cys657=)
|
rs140552419
|
0.00025
|
NM_012186.3(FOXE3):c.831C>T (p.Gly277=)
|
rs527783871
|
0.00025
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)
|
rs138777049
|
0.00025
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
NM_144670.6(A2ML1):c.728+13G>A
|
rs373095814
|
0.00025
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
NM_000059.4(BRCA2):c.6455C>A (p.Ser2152Tyr)
|
rs80358881
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
NM_000251.3(MSH2):c.1277-16T>C
|
rs368653974
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_000518.5(HBB):c.316-45G>C
|
rs140033163
|
0.00024
|
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=)
|
rs138877244
|
0.00024
|
NM_001035.3(RYR2):c.10554+16T>C
|
rs370288739
|
0.00024
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=)
|
rs146353237
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_002294.3(LAMP2):c.741+11C>T
|
rs149155417
|
0.00024
|
NM_002471.4(MYH6):c.4359+10G>A
|
rs368183862
|
0.00024
|
NM_002474.3(MYH11):c.120G>A (p.Ser40=)
|
rs144275008
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
|
rs148656020
|
0.00024
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_003322.6(TULP1):c.190+6C>T
|
rs529180227
|
0.00024
|
NM_004333.6(BRAF):c.-5A>G
|
rs71645936
|
0.00024
|
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=)
|
rs147388628
|
0.00024
|
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val)
|
rs145438966
|
0.00024
|
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)
|
rs149217423
|
0.00024
|
NM_005911.6(MAT2A):c.324A>T (p.Val108=)
|
rs377763337
|
0.00024
|
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met)
|
rs201070853
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)
|
rs199605881
|
0.00024
|
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys)
|
rs139194636
|
0.00024
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=)
|
rs144850779
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_080680.3(COL11A2):c.1819-10G>A
|
rs3129202
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val)
|
rs35335654
|
0.00023
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=)
|
rs200283756
|
0.00023
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
NM_002471.4(MYH6):c.2430-4C>A
|
rs376527296
|
0.00023
|
NM_003239.5(TGFB3):c.647-12C>G
|
rs61762490
|
0.00023
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)
|
rs141293060
|
0.00023
|
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys)
|
rs143462810
|
0.00023
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_015627.3(LDLRAP1):c.344+4C>T
|
rs371561646
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro)
|
rs146576868
|
0.00023
|
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=)
|
rs200088686
|
0.00023
|
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys)
|
rs182743597
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=)
|
rs369999866
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000432.4(MYL2):c.353+12C>A
|
rs186323458
|
0.00022
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_000546.6(TP53):c.216C>T (p.Pro72=)
|
rs56275308
|
0.00022
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)
|
rs148462839
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_001613.4(ACTA2):c.455-18C>T
|
rs139684702
|
0.00022
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
NM_005633.4(SOS1):c.1770G>A (p.Glu590=)
|
rs553331572
|
0.00022
|
NM_006258.4(PRKG1):c.1002-9G>A
|
rs200218082
|
0.00022
|
NM_006361.6(HOXB13):c.567C>T (p.Asn189=)
|
rs143945091
|
0.00022
|
NM_006361.6(HOXB13):c.602-9G>A
|
rs148901331
|
0.00022
|
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)
|
rs80356833
|
0.00022
|
NM_014000.3(VCL):c.1744-19T>G
|
rs201488697
|
0.00022
|
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=)
|
rs199892488
|
0.00022
|
NM_017668.3(NDE1):c.948-3127C>T
|
rs181115969
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=)
|
rs144436556
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln)
|
rs142219499
|
0.00022
|
NM_174936.4(PCSK9):c.993C>T (p.Pro331=)
|
rs376753957
|
0.00022
|
NM_000038.6(APC):c.1419G>A (p.Gln473=)
|
rs141579422
|
0.00021
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=)
|
rs148880015
|
0.00021
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_000179.3(MSH6):c.*49_*68dup
|
rs777409019
|
0.00021
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=)
|
rs372328054
|
0.00021
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)
|
rs747400815
|
0.00021
|
NM_001148.6(ANK2):c.8388G>A (p.Pro2796=)
|
rs369684289
|
0.00021
|
NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu)
|
rs201781919
|
0.00021
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)
|
rs72647883
|
0.00021
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00021
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
|
rs200474454
|
0.00021
|
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=)
|
rs143672551
|
0.00021
|
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)
|
rs138969595
|
0.00021
|
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=)
|
rs140662877
|
0.00021
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn)
|
rs72468630
|
0.00021
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_004985.5(KRAS):c.264A>G (p.Lys88=)
|
rs370920665
|
0.00021
|
NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=)
|
rs756398963
|
0.00021
|
NM_006231.4(POLE):c.519C>T (p.Ala173=)
|
rs187690610
|
0.00021
|
NM_006231.4(POLE):c.561C>T (p.Tyr187=)
|
rs143938822
|
0.00021
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)
|
rs139031749
|
0.00021
|
NM_006767.4(LZTR1):c.2301C>T (p.Asn767=)
|
rs112615858
|
0.00021
|
NM_006767.4(LZTR1):c.678A>T (p.Pro226=)
|
rs200001328
|
0.00021
|
NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr)
|
rs139796627
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=)
|
rs140588714
|
0.00021
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
NM_014000.3(VCL):c.1788A>C (p.Ser596=)
|
rs199582103
|
0.00021
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_022114.4(PRDM16):c.1797G>A (p.Ser599=)
|
rs201769516
|
0.00021
|
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)
|
rs141675061
|
0.00021
|
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln)
|
rs143535006
|
0.00021
|
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)
|
rs139590716
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
NM_030662.4(MAP2K2):c.450+17C>T
|
rs199892711
|
0.00021
|
NM_033305.3(VPS13A):c.6379-19T>G
|
rs766881111
|
0.00021
|
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys)
|
rs367937691
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00020
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=)
|
rs112170830
|
0.00020
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)
|
rs61752980
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
NM_003001.5(SDHC):c.120G>A (p.Arg40=)
|
rs36097930
|
0.00020
|
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)
|
rs144860423
|
0.00020
|
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)
|
rs373281760
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)
|
rs878854714
|
0.00020
|
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)
|
rs28903093
|
0.00020
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
NM_006506.5(RASA2):c.1826+20C>T
|
rs373342734
|
0.00020
|
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)
|
rs143332839
|
0.00020
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_022436.3(ABCG5):c.897C>T (p.Asp299=)
|
rs373237261
|
0.00020
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
NM_024675.4(PALB2):c.2244A>G (p.Thr748=)
|
rs750048627
|
0.00020
|
NM_033118.4(MYLK2):c.972+14G>A
|
rs193922713
|
0.00020
|
NM_053025.4(MYLK):c.1310-20T>C
|
rs375101899
|
0.00020
|
NM_144997.7(FLCN):c.246C>T (p.Cys82=)
|
rs150712346
|
0.00020
|
NM_000038.6(APC):c.1488A>T (p.Thr496=)
|
rs9282599
|
0.00019
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu)
|
rs201629780
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)
|
rs80358408
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=)
|
rs181183366
|
0.00019
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
NM_000075.4(CDK4):c.306A>G (p.Thr102=)
|
rs201202764
|
0.00019
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000088.4(COL1A1):c.299-15C>T
|
rs199523510
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_000117.3(EMD):c.445G>C (p.Asp149His)
|
rs2070818
|
0.00019
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
NM_000257.4(MYH7):c.5412C>G (p.Ala1804=)
|
rs147433856
|
0.00019
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000465.4(BARD1):c.57G>A (p.Glu19=)
|
rs730881406
|
0.00019
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
|
rs138058578
|
0.00019
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
NM_000551.4(VHL):c.341-6C>T
|
rs191201783
|
0.00019
|
NM_001032283.3(TMPO):c.-11A>C
|
rs377404642
|
0.00019
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00019
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)
|
rs781816931
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val)
|
rs532112751
|
0.00019
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)
|
rs76928874
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)
|
rs560306385
|
0.00019
|
NM_001283009.2(RTEL1):c.1349-9G>A
|
rs772899702
|
0.00019
|
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp)
|
rs370477960
|
0.00019
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
NM_001367624.2(ZNF469):c.9214G>A (p.Gly3072Ser)
|
rs557364171
|
0.00019
|
NM_001458.5(FLNC):c.1354G>A (p.Val452Met)
|
rs192163925
|
0.00019
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser)
|
rs148708451
|
0.00019
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
NM_002485.5(NBN):c.804G>A (p.Thr268=)
|
rs141443872
|
0.00019
|
NM_002691.4(POLD1):c.2955G>T (p.Arg985=)
|
rs770495723
|
0.00019
|
NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)
|
rs148770543
|
0.00019
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_004360.5(CDH1):c.1296C>T (p.Asn432=)
|
rs187862045
|
0.00019
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
|
rs146250423
|
0.00019
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)
|
rs200996196
|
0.00019
|
NM_006129.5(BMP1):c.239G>A (p.Arg80His)
|
rs73549580
|
0.00019
|
NM_006231.4(POLE):c.3378+10A>G
|
rs193075152
|
0.00019
|
NM_006506.5(RASA2):c.528-4T>G
|
rs201832322
|
0.00019
|
NM_006939.4(SOS2):c.2010A>G (p.Ala670=)
|
rs147081547
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
NM_007294.4(BRCA1):c.828A>G (p.Thr276=)
|
rs186274774
|
0.00019
|
NM_007373.4(SHOC2):c.841+12G>A
|
rs201258692
|
0.00019
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
NM_012186.3(FOXE3):c.828C>G (p.Pro276=)
|
rs887265865
|
0.00019
|
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)
|
rs138958351
|
0.00019
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
NM_017617.5(NOTCH1):c.5384+14G>A
|
rs755122664
|
0.00019
|
NM_017668.3(NDE1):c.948-3368C>A
|
rs189463893
|
0.00019
|
NM_020975.6(RET):c.2052G>A (p.Pro684=)
|
rs145122337
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
NM_033337.3(CAV3):c.306G>A (p.Ala102=)
|
rs149375325
|
0.00019
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
NM_133378.4(TTN):c.19928-7C>T
|
rs771244164
|
0.00019
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys)
|
rs750524549
|
0.00019
|
NM_172201.2(KCNE2):c.354G>A (p.Gly118=)
|
rs187917779
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_198129.4(LAMA3):c.5780C>T (p.Thr1927Ile)
|
rs146039146
|
0.00019
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
NM_000169.3(GLA):c.129C>T (p.Gly43=)
|
rs146177035
|
0.00018
|
NM_000218.3(KCNQ1):c.605-11G>A
|
rs200828849
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)
|
rs13306300
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)
|
rs188598190
|
0.00018
|
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)
|
rs376330042
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)
|
rs143516811
|
0.00018
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)
|
rs569860898
|
0.00018
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)
|
rs199909967
|
0.00018
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
NM_002230.4(JUP):c.426C>T (p.Arg142=)
|
rs142599474
|
0.00018
|
NM_002335.4(LRP5):c.4049T>G (p.Leu1350Arg)
|
rs531205284
|
0.00018
|
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)
|
rs142539180
|
0.00018
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu)
|
rs201200122
|
0.00018
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_003242.6(TGFBR2):c.984C>T (p.His328=)
|
rs193922666
|
0.00018
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00018
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
NM_014000.3(VCL):c.81C>T (p.His27=)
|
rs200733607
|
0.00018
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00018
|
NM_020117.11(LARS1):c.1501G>A (p.Ala501Thr)
|
rs139960441
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_024422.6(DSC2):c.135C>T (p.Ala45=)
|
rs749323567
|
0.00018
|
NM_030662.4(MAP2K2):c.919+10G>A
|
rs780890887
|
0.00018
|
NM_139076.3(ABRAXAS1):c.63G>A (p.Gln21=)
|
rs745494968
|
0.00018
|
NM_144670.6(A2ML1):c.1368C>T (p.His456=)
|
rs200983183
|
0.00018
|
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)
|
rs199643834
|
0.00018
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=)
|
rs189457419
|
0.00017
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_000535.7(PMS2):c.-7T>C
|
rs199660792
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=)
|
rs368065584
|
0.00017
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)
|
rs35960628
|
0.00017
|
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
|
rs201693280
|
0.00017
|
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)
|
rs371022420
|
0.00017
|
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)
|
rs146690035
|
0.00017
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00017
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)
|
rs149980738
|
0.00017
|
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)
|
rs147964932
|
0.00017
|
NM_003673.4(TCAP):c.270G>A (p.Pro90=)
|
rs372538567
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004415.4(DSP):c.2121C>T (p.Asn707=)
|
rs368590198
|
0.00017
|
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)
|
rs201664019
|
0.00017
|
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His)
|
rs116034780
|
0.00017
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr)
|
rs144622500
|
0.00017
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
NM_020297.4(ABCC9):c.4512+690C>T
|
rs397517191
|
0.00017
|
NM_020297.4(ABCC9):c.574-18G>A
|
rs376566343
|
0.00017
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu)
|
rs201762847
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00016
|
NM_000038.6(APC):c.6669A>G (p.Ser2223=)
|
rs372680843
|
0.00016
|
NM_000051.4(ATM):c.7224G>A (p.Ser2408=)
|
rs145747513
|
0.00016
|
NM_000051.4(ATM):c.8584+10T>C
|
rs373321041
|
0.00016
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=)
|
rs145625991
|
0.00016
|
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)
|
rs373291490
|
0.00016
|
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)
|
rs199901898
|
0.00016
|
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=)
|
rs141091206
|
0.00016
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00016
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000179.3(MSH6):c.2925C>T (p.Asn975=)
|
rs139026662
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)
|
rs116403115
|
0.00016
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000251.3(MSH2):c.1276+16G>A
|
rs368120695
|
0.00016
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)
|
rs192863214
|
0.00016
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000492.4(CFTR):c.-4G>C
|
rs369326781
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)
|
rs770408379
|
0.00016
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)
|
rs201310328
|
0.00016
|
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
|
rs373650093
|
0.00016
|
NM_001148.6(ANK2):c.11032+19A>G
|
rs200769962
|
0.00016
|
NM_001165963.4(SCN1A):c.1378-3T>C
|
rs150964803
|
0.00016
|
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp)
|
rs139078082
|
0.00016
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00016
|
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)
|
rs367958537
|
0.00016
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00016
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00016
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=)
|
rs397517443
|
0.00016
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
NM_002317.7(LOX):c.631+10C>T
|
rs199948468
|
0.00016
|
NM_002471.4(MYH6):c.4560A>G (p.Glu1520=)
|
rs200918670
|
0.00016
|
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)
|
rs201667127
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_002474.3(MYH11):c.2541G>A (p.Val847=)
|
rs373920725
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
NM_002485.5(NBN):c.2202A>G (p.Ala734=)
|
rs200452212
|
0.00016
|
NM_002691.4(POLD1):c.2337G>A (p.Ala779=)
|
rs147108748
|
0.00016
|
NM_002769.5(PRSS1):c.40+13C>T
|
rs368872847
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_002880.4(RAF1):c.576A>G (p.Gln192=)
|
rs148759910
|
0.00016
|
NM_003480.4(MFAP5):c.195T>A (p.Ile65=)
|
rs146558268
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
NM_004333.6(BRAF):c.1860+16A>G
|
rs368859030
|
0.00016
|
NM_004333.6(BRAF):c.483G>C (p.Leu161=)
|
rs61730029
|
0.00016
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)
|
rs200062984
|
0.00016
|
NM_004985.5(KRAS):c.198A>G (p.Ala66=)
|
rs200229810
|
0.00016
|
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser)
|
rs766886560
|
0.00016
|
NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn)
|
rs373607825
|
0.00016
|
NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=)
|
rs367846898
|
0.00016
|
NM_005502.4(ABCA1):c.4773+6C>T
|
rs368667473
|
0.00016
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
NM_005981.5(TSPAN31):c.*2031T>A
|
rs370609910
|
0.00016
|
NM_006270.5(RRAS):c.516G>C (p.Ser172=)
|
rs199924228
|
0.00016
|
NM_006506.5(RASA2):c.1960G>A (p.Val654Ile)
|
rs150847466
|
0.00016
|
NM_006767.4(LZTR1):c.945C>T (p.Asp315=)
|
rs559942119
|
0.00016
|
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys)
|
rs368594369
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
NM_014000.3(VCL):c.1842G>A (p.Thr614=)
|
rs144117013
|
0.00016
|
NM_015141.4(GPD1L):c.1038C>T (p.Ser346=)
|
rs147092668
|
0.00016
|
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)
|
rs200406024
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu)
|
rs145888229
|
0.00016
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
|
rs138846118
|
0.00016
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=)
|
rs369925884
|
0.00016
|
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=)
|
rs145504336
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)
|
rs200204126
|
0.00016
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)
|
rs201076557
|
0.00016
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)
|
rs560475969
|
0.00016
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000432.4(MYL2):c.243G>T (p.Val81=)
|
rs368851472
|
0.00015
|
NM_000465.4(BARD1):c.1554C>T (p.Ala518=)
|
rs139612775
|
0.00015
|
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)
|
rs138587317
|
0.00015
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
NM_000535.7(PMS2):c.1944T>C (p.Phe648=)
|
rs144011908
|
0.00015
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
0.00015
|
NM_001110556.2(FLNA):c.-20C>A
|
rs781821429
|
0.00015
|
NM_001110792.2(MECP2):c.1176G>A (p.Val392=)
|
rs201711454
|
0.00015
|
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)
|
rs199475953
|
0.00015
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
NM_002317.7(LOX):c.308G>C (p.Arg103Pro)
|
rs200513395
|
0.00015
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00015
|
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=)
|
rs13306075
|
0.00015
|
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)
|
rs186333183
|
0.00015
|
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)
|
rs145428112
|
0.00015
|
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn)
|
rs189870832
|
0.00015
|
NM_006231.4(POLE):c.252C>T (p.Tyr84=)
|
rs148838481
|
0.00015
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
NM_006361.6(HOXB13):c.6G>A (p.Glu2=)
|
rs371544984
|
0.00015
|
NM_006767.4(LZTR1):c.96T>C (p.His32=)
|
rs372440263
|
0.00015
|
NM_006912.6(RIT1):c.237+10C>A
|
rs367785615
|
0.00015
|
NM_006939.4(SOS2):c.2057+19T>A
|
rs544924513
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
NM_024422.6(DSC2):c.2019C>T (p.Thr673=)
|
rs201469817
|
0.00015
|
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)
|
rs182494675
|
0.00015
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
NM_053025.4(MYLK):c.3652+10C>T
|
rs199521089
|
0.00015
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
NM_000038.6(APC):c.2640C>T (p.Ile880=)
|
rs200184105
|
0.00014
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)
|
rs201595274
|
0.00014
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000388.4(CASR):c.546T>A (p.Ser182=)
|
rs200545177
|
0.00014
|
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=)
|
rs552265898
|
0.00014
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00014
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
|
rs61751286
|
0.00014
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=)
|
rs587781006
|
0.00014
|
NM_001032283.3(TMPO):c.565+1469A>G
|
rs147812883
|
0.00014
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=)
|
rs563219502
|
0.00014
|
NM_001042492.3(NF1):c.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
NM_001103.4(ACTN2):c.615+15C>T
|
rs369293885
|
0.00014
|
NM_001105206.3(LAMA4):c.2977-16T>A
|
rs368833887
|
0.00014
|
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)
|
rs150802299
|
0.00014
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=)
|
rs3731753
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)
|
rs371455094
|
0.00014
|
NM_001267550.2(TTN):c.21962-6C>T
|
rs374870814
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=)
|
rs190058852
|
0.00014
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg)
|
rs537071956
|
0.00014
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)
|
rs72648225
|
0.00014
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
NM_001267550.2(TTN):c.97436G>A (p.Arg32479His)
|
rs369845358
|
0.00014
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp)
|
rs766496010
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=)
|
rs141321284
|
0.00014
|
NM_002230.4(JUP):c.84G>A (p.Ser28=)
|
rs144137028
|
0.00014
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser)
|
rs148962966
|
0.00014
|
NM_002471.4(MYH6):c.2429+14A>C
|
rs200817451
|
0.00014
|
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)
|
rs141440715
|
0.00014
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_002880.4(RAF1):c.1587G>A (p.Ser529=)
|
rs114687276
|
0.00014
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)
|
rs786205846
|
0.00014
|
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
|
rs137852937
|
0.00014
|
NM_003937.3(KYNU):c.291-7A>G
|
rs369879960
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004006.3(DMD):c.4876G>A (p.Val1626Met)
|
rs776998846
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)
|
rs146977269
|
0.00014
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
NM_004329.3(BMPR1A):c.676-6A>C
|
rs186999445
|
0.00014
|
NM_004360.5(CDH1):c.1353T>C (p.Ile451=)
|
rs114192597
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_005502.4(ABCA1):c.3768G>A (p.Gly1256=)
|
rs140160885
|
0.00014
|
NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val)
|
rs200788099
|
0.00014
|
NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile)
|
rs144588452
|
0.00014
|
NM_005633.4(SOS1):c.1962G>A (p.Glu654=)
|
rs144382701
|
0.00014
|
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly)
|
rs149819328
|
0.00014
|
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)
|
rs77447750
|
0.00014
|
NM_005751.5(AKAP9):c.717G>A (p.Gln239=)
|
rs370346906
|
0.00014
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
NM_006231.4(POLE):c.6657+9T>C
|
rs375333174
|
0.00014
|
NM_006506.5(RASA2):c.38C>T (p.Ser13Phe)
|
rs376313232
|
0.00014
|
NM_006767.4(LZTR1):c.1449+18C>G
|
rs369921461
|
0.00014
|
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)
|
rs200806641
|
0.00014
|
NM_007078.3(LDB3):c.897-14T>C
|
rs763081924
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)
|
rs80357122
|
0.00014
|
NM_007294.4(BRCA1):c.5194-18G>T
|
rs80358090
|
0.00014
|
NM_012186.3(FOXE3):c.51T>C (p.Pro17=)
|
rs548368038
|
0.00014
|
NM_015158.5(KANK1):c.151G>A (p.Asp51Asn)
|
rs201262082
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_017617.5(NOTCH1):c.2354-5T>C
|
rs371944522
|
0.00014
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
NM_024334.3(TMEM43):c.864C>T (p.His288=)
|
rs377585035
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_030662.3(MAP2K2):c.*8C>T
|
rs377675706
|
0.00014
|
NM_030662.4(MAP2K2):c.529-12G>A
|
rs375701469
|
0.00014
|
NM_030662.4(MAP2K2):c.529-15C>T
|
rs778783152
|
0.00014
|
NM_030662.4(MAP2K2):c.580+15G>A
|
rs370921720
|
0.00014
|
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)
|
rs876657827
|
0.00014
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val)
|
rs121908107
|
0.00014
|
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=)
|
rs146320279
|
0.00014
|
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)
|
rs151294221
|
0.00014
|
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)
|
rs371602931
|
0.00014
|
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser)
|
rs376489465
|
0.00014
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)
|
rs151193009
|
0.00014
|
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe)
|
rs200142963
|
0.00014
|
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)
|
rs202218948
|
0.00014
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000039.3(APOA1):c.200+19G>A
|
rs377408912
|
0.00013
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=)
|
rs373134168
|
0.00013
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
NM_000075.4(CDK4):c.834T>C (p.Phe278=)
|
rs115576923
|
0.00013
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.240C>T (p.Phe80=)
|
rs143162541
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val)
|
rs201934320
|
0.00013
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001035.3(RYR2):c.3067-15T>C
|
rs185110433
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)
|
rs182038403
|
0.00013
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
NM_001085049.3(MRAS):c.488A>G (p.Asn163Ser)
|
rs536326964
|
0.00013
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
NM_001110792.2(MECP2):c.*13C>T
|
rs782334844
|
0.00013
|
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063
|
0.00013
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)
|
rs727505316
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His)
|
rs758123475
|
0.00013
|
NM_001458.5(FLNC):c.600C>T (p.Pro200=)
|
rs202105410
|
0.00013
|
NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
NM_002474.3(MYH11):c.3858+16G>C
|
rs370164910
|
0.00013
|
NM_002474.3(MYH11):c.633+1900G>A
|
rs371799677
|
0.00013
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_003098.3(SNTA1):c.311-20C>T
|
rs200764326
|
0.00013
|
NM_003239.5(TGFB3):c.88T>C (p.Leu30=)
|
rs3917145
|
0.00013
|
NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser)
|
rs199820445
|
0.00013
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004281.4(BAG3):c.1029C>A (p.Arg343=)
|
rs117972572
|
0.00013
|
NM_004333.6(BRAF):c.504+17A>G
|
rs201797624
|
0.00013
|
NM_004333.6(BRAF):c.723G>A (p.Thr241=)
|
rs369182143
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
NM_005188.4(CBL):c.-5A>G
|
rs552214111
|
0.00013
|
NM_005633.4(SOS1):c.1668A>C (p.Val556=)
|
rs376314461
|
0.00013
|
NM_005633.4(SOS1):c.1953A>G (p.Pro651=)
|
rs141507912
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp)
|
rs371024396
|
0.00013
|
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)
|
rs148267537
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_006231.4(POLE):c.2935C>T (p.Leu979=)
|
rs56081968
|
0.00013
|
NM_006361.6(HOXB13):c.474G>A (p.Pro158=)
|
rs35033273
|
0.00013
|
NM_006939.4(SOS2):c.195G>A (p.Arg65=)
|
rs1803661
|
0.00013
|
NM_007078.3(LDB3):c.1956C>T (p.Asp652=)
|
rs139213290
|
0.00013
|
NM_007078.3(LDB3):c.714C>T (p.Ala238=)
|
rs727503125
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
|
rs41293451
|
0.00013
|
NM_014000.3(VCL):c.1403C>T (p.Thr468Met)
|
rs147957747
|
0.00013
|
NM_017668.3(NDE1):c.948-4464C>G
|
rs375979600
|
0.00013
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_024675.4(PALB2):c.1641C>T (p.Thr547=)
|
rs564514783
|
0.00013
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=)
|
rs368233443
|
0.00013
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00013
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)
|
rs199624315
|
0.00013
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00013
|
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys)
|
rs201395805
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.2204C>T (p.Ala735Val)
|
rs147655929
|
0.00012
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
NM_000059.4(BRCA2):c.7278T>A (p.Ile2426=)
|
rs372377916
|
0.00012
|
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)
|
rs146837092
|
0.00012
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000132.4(F8):c.222G>A (p.Thr74=)
|
rs1232517683
|
0.00012
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000249.4(MLH1):c.1050A>G (p.Pro350=)
|
rs137937003
|
0.00012
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys)
|
rs190765116
|
0.00012
|
NM_000256.3(MYBPC3):c.666C>T (p.Phe222=)
|
rs371331114
|
0.00012
|
NM_000257.4(MYH7):c.4953+17G>A
|
rs376604168
|
0.00012
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)
|
rs373997222
|
0.00012
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00012
|
NM_000517.6(HBA2):c.409C>A (p.Leu137Met)
|
rs41364652
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001035.3(RYR2):c.7824+20G>A
|
rs373240466
|
0.00012
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)
|
rs200631005
|
0.00012
|
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser)
|
rs61749731
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)
|
rs550441902
|
0.00012
|
NM_001267550.2(TTN):c.24505+13C>T
|
rs534803807
|
0.00012
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)
|
rs115303497
|
0.00012
|
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)
|
rs370342831
|
0.00012
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00012
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)
|
rs376363284
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00012
|
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr)
|
rs142478636
|
0.00012
|
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser)
|
rs201336927
|
0.00012
|
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys)
|
rs146942592
|
0.00012
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser)
|
rs375150574
|
0.00012
|
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)
|
rs369925361
|
0.00012
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
0.00012
|
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro)
|
rs147146713
|
0.00012
|
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)
|
rs140261885
|
0.00012
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
NM_005359.6(SMAD4):c.582A>G (p.Thr194=)
|
rs145805120
|
0.00012
|
NM_005502.4(ABCA1):c.66+9G>T
|
rs562165874
|
0.00012
|
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val)
|
rs776534749
|
0.00012
|
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=)
|
rs187636159
|
0.00012
|
NM_006506.5(RASA2):c.1422C>T (p.Cys474=)
|
rs137996961
|
0.00012
|
NM_006767.4(LZTR1):c.264-14C>T
|
rs199963374
|
0.00012
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
NM_006939.4(SOS2):c.702G>A (p.Leu234=)
|
rs200208472
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00012
|
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=)
|
rs138493864
|
0.00012
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr)
|
rs146122441
|
0.00012
|
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=)
|
rs763584589
|
0.00012
|
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)
|
rs113994022
|
0.00012
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp)
|
rs186332019
|
0.00012
|
NM_030662.4(MAP2K2):c.581-8G>A
|
rs369262004
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)
|
rs138031155
|
0.00012
|
NM_194248.3(OTOF):c.2523+5G>A
|
rs201745796
|
0.00012
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
0.00011
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=)
|
rs369940136
|
0.00011
|
NM_000051.4(ATM):c.6348-8T>C
|
rs730881292
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=)
|
rs587780531
|
0.00011
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000059.4(BRCA2):c.3054G>A (p.Lys1018=)
|
rs368404583
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
NM_000064.4(C3):c.2047+7G>A
|
rs770932217
|
0.00011
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr)
|
rs184636161
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1387-4G>C
|
rs376796243
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)
|
rs374289523
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000432.4(MYL2):c.33G>A (p.Gly11=)
|
rs199742269
|
0.00011
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000535.7(PMS2):c.1248C>A (p.Ser416=)
|
rs780709321
|
0.00011
|
NM_000535.7(PMS2):c.1533G>A (p.Thr511=)
|
rs542520309
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000546.6(TP53):c.217G>A (p.Val73Met)
|
rs587782423
|
0.00011
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
|
rs561321743
|
0.00011
|
NM_001035.3(RYR2):c.6793-3C>T
|
rs372314209
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)
|
rs143796254
|
0.00011
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_001103.4(ACTN2):c.1974+10C>T
|
rs368354944
|
0.00011
|
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=)
|
rs368746337
|
0.00011
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)
|
rs148124447
|
0.00011
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.45617-13C>T
|
rs570853409
|
0.00011
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=)
|
rs747908048
|
0.00011
|
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)
|
rs745992545
|
0.00011
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00011
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)
|
rs372302484
|
0.00011
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
NM_002317.7(LOX):c.916C>T (p.Leu306=)
|
rs368947781
|
0.00011
|
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys)
|
rs113804402
|
0.00011
|
NM_002471.4(MYH6):c.678C>T (p.Pro226=)
|
rs768893926
|
0.00011
|
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp)
|
rs146388001
|
0.00011
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
NM_002485.5(NBN):c.279G>A (p.Ser93=)
|
rs587780781
|
0.00011
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
NM_002691.4(POLD1):c.1785C>T (p.Asp595=)
|
rs769563176
|
0.00011
|
NM_002691.4(POLD1):c.645G>A (p.Ala215=)
|
rs377058651
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=)
|
rs372669687
|
0.00011
|
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=)
|
rs138466751
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_003036.4(SKI):c.1329C>T (p.Pro443=)
|
rs150033567
|
0.00011
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)
|
rs377412651
|
0.00011
|
NM_004333.6(BRAF):c.36G>A (p.Ala12=)
|
rs397507454
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_004360.5(CDH1):c.2643C>T (p.Asp881=)
|
rs114708971
|
0.00011
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
NM_005188.4(CBL):c.1432-6C>T
|
rs371919794
|
0.00011
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=)
|
rs143299210
|
0.00011
|
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=)
|
rs373319212
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)
|
rs121918342
|
0.00011
|
NM_006231.4(POLE):c.3763T>C (p.Leu1255=)
|
rs745838504
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=)
|
rs374834674
|
0.00011
|
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=)
|
rs374202731
|
0.00011
|
NM_006567.5(FARS2):c.792del (p.Asp265fs)
|
rs761097220
|
0.00011
|
NM_006767.4(LZTR1):c.2205G>A (p.Pro735=)
|
rs368690209
|
0.00011
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_007078.3(LDB3):c.897-16G>C
|
rs45513100
|
0.00011
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=)
|
rs369373293
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_007294.4(BRCA1):c.441+18C>T
|
rs371973519
|
0.00011
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)
|
rs775006954
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val)
|
rs149189246
|
0.00011
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
0.00011
|
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys)
|
rs200019717
|
0.00011
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_020632.3(ATP6V0A4):c.1029+5G>A
|
rs147476317
|
0.00011
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
0.00011
|
NM_024334.3(TMEM43):c.429G>A (p.Thr143=)
|
rs201217046
|
0.00011
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr)
|
rs200875161
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_030662.4(MAP2K2):c.981C>T (p.Asn327=)
|
rs143275018
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00011
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=)
|
rs367969368
|
0.00011
|
NM_139276.3(STAT3):c.2082T>A (p.His694Gln)
|
rs139701269
|
0.00011
|
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr)
|
rs201363860
|
0.00011
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_177924.5(ASAH1):c.219A>G (p.Leu73=)
|
rs141785977
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000059.4(BRCA2):c.7239A>G (p.Lys2413=)
|
rs763727386
|
0.00010
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
0.00010
|
NM_000071.3(CBS):c.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=)
|
rs546300971
|
0.00010
|
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)
|
rs749895856
|
0.00010
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000251.3(MSH2):c.2210+7G>T
|
rs374675118
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
NM_000335.5(SCN5A):c.*1G>A
|
rs375282305
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)
|
rs121908863
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000384.3(APOB):c.10575C>T (p.Ser3525=)
|
rs142573551
|
0.00010
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000451.4(SHOX):c.545-10T>C
|
rs370327147
|
0.00010
|
NM_000451.4(SHOX):c.698C>T (p.Ala233Val)
|
rs750375727
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
NM_001040151.2(SCN3B):c.105C>T (p.Ala35=)
|
rs368979661
|
0.00010
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
NM_001048174.2(MUTYH):c.-6-7G>A
|
rs780029247
|
0.00010
|
NM_001080517.3(SETD5):c.2426A>G (p.Tyr809Cys)
|
rs1270531724
|
0.00010
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
NM_001148.6(ANK2):c.8673C>T (p.Pro2891=)
|
rs374884110
|
0.00010
|
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln)
|
rs150226540
|
0.00010
|
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)
|
rs201954720
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.33286C>T (p.Arg11096Cys)
|
rs377710763
|
0.00010
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)
|
rs192962624
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln)
|
rs183238138
|
0.00010
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
|
rs542266962
|
0.00010
|
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)
|
rs368783097
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001458.5(FLNC):c.4952-9G>T
|
rs747821376
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_001844.5(COL2A1):c.1996-10C>T
|
rs144804336
|
0.00010
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
NM_002471.4(MYH6):c.420C>T (p.Ala140=)
|
rs145023897
|
0.00010
|
NM_002691.4(POLD1):c.666G>A (p.Pro222=)
|
rs746678748
|
0.00010
|
NM_002755.4(MAP2K1):c.439-19C>A
|
rs766207567
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)
|
rs200702528
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
NM_004360.5(CDH1):c.2451G>A (p.Ala817=)
|
rs149450874
|
0.00010
|
NM_004415.4(DSP):c.1140+6T>C
|
rs534740669
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
NM_004655.4(AXIN2):c.1181G>A (p.Arg394His)
|
rs200899695
|
0.00010
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)
|
rs375550588
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_005732.4(RAD50):c.204C>T (p.His68=)
|
rs28903084
|
0.00010
|
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)
|
rs181961360
|
0.00010
|
NM_005902.4(SMAD3):c.457C>T (p.Leu153=)
|
rs145380987
|
0.00010
|
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
|
rs138404783
|
0.00010
|
NM_006767.4(LZTR1):c.263+7G>A
|
rs185749722
|
0.00010
|
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala)
|
rs550680554
|
0.00010
|
NM_007078.3(LDB3):c.273G>A (p.Thr91=)
|
rs45613039
|
0.00010
|
NM_007078.3(LDB3):c.891G>A (p.Arg297=)
|
rs374336814
|
0.00010
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
NM_014391.3(ANKRD1):c.750+17G>A
|
rs373898620
|
0.00010
|
NM_015909.4(NBAS):c.6827C>T (p.Thr2276Met)
|
rs144615326
|
0.00010
|
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
|
rs142482217
|
0.00010
|
NM_016327.3(UPB1):c.105-2A>G
|
rs138081800
|
0.00010
|
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)
|
rs61751559
|
0.00010
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met)
|
rs199552258
|
0.00010
|
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln)
|
rs561640998
|
0.00010
|
NM_033118.4(MYLK2):c.1590C>T (p.Asn530=)
|
rs374233822
|
0.00010
|
NM_033337.3(CAV3):c.168C>T (p.Gly56=)
|
rs116840774
|
0.00010
|
NM_139076.3(ABRAXAS1):c.381C>T (p.Asn127=)
|
rs201470211
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)
|
rs200157475
|
0.00010
|
NM_201596.3(CACNB2):c.1140T>C (p.His380=)
|
rs151199943
|
0.00010
|
NR_003051.4(RMRP):n.244A>G
|
rs551450545
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
NM_000038.6(APC):c.1958+10G>T
|
rs375175370
|
0.00009
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00009
|
NM_000038.6(APC):c.3786T>C (p.Tyr1262=)
|
rs147411334
|
0.00009
|
NM_000038.6(APC):c.5025T>G (p.Val1675=)
|
rs876658169
|
0.00009
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
NM_000059.4(BRCA2):c.*14C>T
|
rs373436334
|
0.00009
|
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)
|
rs55881945
|
0.00009
|
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)
|
rs80358443
|
0.00009
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=)
|
rs730881590
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=)
|
rs45484897
|
0.00009
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
rs398122558
|
0.00009
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)
|
rs398123531
|
0.00009
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)
|
rs587780675
|
0.00009
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=)
|
rs200692436
|
0.00009
|
NM_000238.4(KCNH2):c.2145+9A>T
|
rs371749379
|
0.00009
|
NM_000243.3(MEFV):c.198C>T (p.Ala66=)
|
rs149380763
|
0.00009
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
NM_000251.3(MSH2):c.367-19A>T
|
rs730881783
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
NM_000305.3(PON2):c.708T>G (p.Val236=)
|
rs758886833
|
0.00009
|
NM_000314.6(PTEN):c.-920G>A
|
rs786204937
|
0.00009
|
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
|
rs148992508
|
0.00009
|
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=)
|
rs564847999
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=)
|
rs769473892
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=)
|
rs370114378
|
0.00009
|
NM_000350.3(ABCA4):c.2431C>T (p.Arg811Cys)
|
rs758777521
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
rs193922461
|
0.00009
|
NM_000455.5(STK11):c.735-9G>A
|
rs201899557
|
0.00009
|
NM_000458.4(HNF1B):c.1534+11G>A
|
rs373875820
|
0.00009
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000518.4(HBB):c.-132G>T
|
rs887821047
|
0.00009
|
NM_000518.5(HBB):c.316-179A>C
|
rs185607297
|
0.00009
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
NM_000535.7(PMS2):c.1980C>T (p.Ala660=)
|
rs368928783
|
0.00009
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_000546.6(TP53):c.474C>T (p.Arg158=)
|
rs139200646
|
0.00009
|
NM_000546.6(TP53):c.6G>A (p.Glu2=)
|
rs143458271
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
NM_000781.3(CYP11A1):c.269+4A>G
|
rs199573967
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val)
|
rs755065507
|
0.00009
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=)
|
rs201082550
|
0.00009
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001079802.2(FKTN):c.1172+13T>C
|
rs768792475
|
0.00009
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
NM_001085049.3(MRAS):c.252G>A (p.Thr84=)
|
rs373727168
|
0.00009
|
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)
|
rs149846886
|
0.00009
|
NM_001103.4(ACTN2):c.165C>T (p.Ala55=)
|
rs193922634
|
0.00009
|
NM_001110556.2(FLNA):c.7756+19C>T
|
rs781867343
|
0.00009
|
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)
|
rs63094662
|
0.00009
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
NM_001110792.2(MECP2):c.756C>T (p.Thr252=)
|
rs61749746
|
0.00009
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)
|
rs185569619
|
0.00009
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
NM_001148.6(ANK2):c.2127T>C (p.Asn709=)
|
rs113454484
|
0.00009
|
NM_001148.6(ANK2):c.2712C>T (p.Ser904=)
|
rs149310669
|
0.00009
|
NM_001148.6(ANK2):c.5313G>A (p.Lys1771=)
|
rs140992864
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
NM_001267550.2(TTN):c.24227-16G>A
|
rs377340591
|
0.00009
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00009
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.7058-17C>T
|
rs572098454
|
0.00009
|
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val)
|
rs372407708
|
0.00009
|
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)
|
rs373738818
|
0.00009
|
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)
|
rs374887049
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)
|
rs777517985
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)
|
rs377742483
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001927.4(DES):c.736-19G>A
|
rs745667526
|
0.00009
|
NM_001943.5(DSG2):c.379-3C>T
|
rs376556524
|
0.00009
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
NM_002471.4(MYH6):c.-8G>A
|
rs28730779
|
0.00009
|
NM_002471.4(MYH6):c.1485C>T (p.Phe495=)
|
rs181613656
|
0.00009
|
NM_002471.4(MYH6):c.2520G>A (p.Pro840=)
|
rs141945051
|
0.00009
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_002485.5(NBN):c.426T>C (p.Asn142=)
|
rs143070291
|
0.00009
|
NM_002691.4(POLD1):c.1596C>T (p.Ala532=)
|
rs550441767
|
0.00009
|
NM_002691.4(POLD1):c.2388+5G>A
|
rs750085275
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_002834.5(PTPN11):c.486C>T (p.Asp162=)
|
rs397507522
|
0.00009
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
NM_002878.4(RAD51D):c.864C>T (p.Gly288=)
|
rs138557828
|
0.00009
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
NM_003193.5(TBCE):c.100+1G>A
|
rs200356271
|
0.00009
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00009
|
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)
|
rs730880054
|
0.00009
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)
|
rs535411352
|
0.00009
|
NM_004333.6(BRAF):c.399A>G (p.Ser133=)
|
rs397507463
|
0.00009
|
NM_004360.5(CDH1):c.1359C>T (p.His453=)
|
rs114861467
|
0.00009
|
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val)
|
rs2276331
|
0.00009
|
NM_004360.5(CDH1):c.894C>T (p.Ala298=)
|
rs139110184
|
0.00009
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
NM_005188.4(CBL):c.1566T>C (p.Ala522=)
|
rs371065029
|
0.00009
|
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)
|
rs371672410
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)
|
rs199856844
|
0.00009
|
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser)
|
rs369206894
|
0.00009
|
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met)
|
rs368444006
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_006231.4(POLE):c.1905C>T (p.Ile635=)
|
rs145203544
|
0.00009
|
NM_006231.4(POLE):c.4047G>A (p.Ala1349=)
|
rs201746181
|
0.00009
|
NM_006393.3(NEBL):c.120A>G (p.Glu40=)
|
rs397517203
|
0.00009
|
NM_006506.5(RASA2):c.1674+16T>A
|
rs769778924
|
0.00009
|
NM_006506.5(RASA2):c.382T>C (p.Leu128=)
|
rs193019405
|
0.00009
|
NM_006767.4(LZTR1):c.1377C>T (p.His459=)
|
rs752985853
|
0.00009
|
NM_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00009
|
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)
|
rs776893978
|
0.00009
|
NM_006767.4(LZTR1):c.366G>A (p.Ser122=)
|
rs367767120
|
0.00009
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
NM_006939.4(SOS2):c.2520A>G (p.Ala840=)
|
rs775682587
|
0.00009
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
NM_007294.4(BRCA1):c.5152+20T>A
|
rs376836050
|
0.00009
|
NM_014000.3(VCL):c.1290C>T (p.Asp430=)
|
rs576271894
|
0.00009
|
NM_014000.3(VCL):c.2142C>T (p.Asp714=)
|
rs373790383
|
0.00009
|
NM_014000.3(VCL):c.3066C>T (p.Ile1022=)
|
rs138619320
|
0.00009
|
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr)
|
rs763536557
|
0.00009
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)
|
rs56191073
|
0.00009
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)
|
rs369395479
|
0.00009
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.1623G>A (p.Arg541=)
|
rs745665968
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)
|
rs547397177
|
0.00009
|
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)
|
rs138329739
|
0.00009
|
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)
|
rs536506601
|
0.00009
|
NM_053025.4(MYLK):c.3750C>T (p.Arg1250=)
|
rs201873975
|
0.00009
|
NM_053025.4(MYLK):c.4289-13del
|
rs779252356
|
0.00009
|
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=)
|
rs374665486
|
0.00009
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
NM_133259.4(LRPPRC):c.2210+4A>C
|
rs190007694
|
0.00009
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter)
|
rs199651558
|
0.00009
|
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter)
|
rs182070540
|
0.00009
|
NM_144670.6(A2ML1):c.855+9A>G
|
rs200524501
|
0.00009
|
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp)
|
rs368135271
|
0.00009
|
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser)
|
rs149868494
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)
|
rs80356601
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_000038.6(APC):c.4212C>A (p.Ser1404=)
|
rs144655979
|
0.00008
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00008
|
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
|
rs767543051
|
0.00008
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
NM_000051.4(ATM):c.2466+7A>G
|
rs55812024
|
0.00008
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000059.4(BRCA2):c.2109C>T (p.Thr703=)
|
rs762499878
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000093.5(COL5A1):c.684G>A (p.Ser228=)
|
rs139705205
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000179.3(MSH6):c.3540A>C (p.Ser1180=)
|
rs777096746
|
0.00008
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
0.00008
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000251.3(MSH2):c.1662-10C>T
|
rs752606387
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
0.00008
|
NM_000335.5(SCN5A):c.873C>T (p.Asn291=)
|
rs376515775
|
0.00008
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000380.4(XPA):c.731A>G (p.His244Arg)
|
rs144725456
|
0.00008
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
|
rs762780994
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.1656T>C (p.His552=)
|
rs113726095
|
0.00008
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=)
|
rs374278766
|
0.00008
|
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=)
|
rs368009936
|
0.00008
|
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)
|
rs199849117
|
0.00008
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)
|
rs548471822
|
0.00008
|
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)
|
rs369195237
|
0.00008
|
NM_001267550.2(TTN):c.2776-14T>C
|
rs201611946
|
0.00008
|
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn)
|
rs147020824
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)
|
rs370995867
|
0.00008
|
NM_001267550.2(TTN):c.63137T>C (p.Ile21046Thr)
|
rs368868562
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=)
|
rs375593700
|
0.00008
|
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr)
|
rs190619495
|
0.00008
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe)
|
rs138127105
|
0.00008
|
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr)
|
rs753865441
|
0.00008
|
NM_002691.4(POLD1):c.2718-4G>A
|
rs755348897
|
0.00008
|
NM_002691.4(POLD1):c.3156G>A (p.Ser1052=)
|
rs373910727
|
0.00008
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
NM_004333.6(BRAF):c.375T>G (p.Ser125=)
|
rs201507202
|
0.00008
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
0.00008
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00008
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)
|
rs201631570
|
0.00008
|
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln)
|
rs139818555
|
0.00008
|
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=)
|
rs372748115
|
0.00008
|
NM_005911.6(MAT2A):c.729C>T (p.His243=)
|
rs757299832
|
0.00008
|
NM_005993.5(TBCD):c.2178+5A>G
|
rs371823710
|
0.00008
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)
|
rs200129338
|
0.00008
|
NM_006767.4(LZTR1):c.1548C>T (p.Ala516=)
|
rs545065457
|
0.00008
|
NM_006767.4(LZTR1):c.369C>T (p.Ala123=)
|
rs773126123
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
NM_007294.4(BRCA1):c.987T>C (p.Asn329=)
|
rs774849810
|
0.00008
|
NM_007373.4(SHOC2):c.1161+9A>G
|
rs201795589
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)
|
rs757727533
|
0.00008
|
NM_017617.5(NOTCH1):c.6083-4G>A
|
rs570242146
|
0.00008
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_053025.4(MYLK):c.3832-9C>T
|
rs200022087
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_182925.5(FLT4):c.475C>G (p.Leu159Val)
|
rs147634448
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
NM_000038.6(APC):c.3624C>T (p.Thr1208=)
|
rs730882125
|
0.00007
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val)
|
rs56337919
|
0.00007
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
rs80359088
|
0.00007
|
NM_000059.4(BRCA2):c.8953+16C>T
|
rs81002892
|
0.00007
|
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=)
|
rs777488349
|
0.00007
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)
|
rs13306411
|
0.00007
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=)
|
rs745993706
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000249.4(MLH1):c.*4T>C
|
rs750794400
|
0.00007
|
NM_000249.4(MLH1):c.117-10G>A
|
rs576724240
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000251.3(MSH2):c.642A>G (p.Arg214=)
|
rs768931909
|
0.00007
|
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=)
|
rs139071993
|
0.00007
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
|
rs190935424
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)
|
rs141482368
|
0.00007
|
NM_000455.5(STK11):c.-2G>T
|
rs774072752
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)
|
rs765011829
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00007
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
NM_000719.7(CACNA1C):c.2854-4G>A
|
rs113929946
|
0.00007
|
NM_001042492.3(NF1):c.1528-10T>C
|
rs376174484
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg)
|
rs148628141
|
0.00007
|
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=)
|
rs782615607
|
0.00007
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)
|
rs34065266
|
0.00007
|
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu)
|
rs371357815
|
0.00007
|
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)
|
rs193922637
|
0.00007
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)
|
rs376443365
|
0.00007
|
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)
|
rs369947439
|
0.00007
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)
|
rs369932282
|
0.00007
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr)
|
rs374563054
|
0.00007
|
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)
|
rs371155050
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr)
|
rs775146212
|
0.00007
|
NM_001267550.2(TTN):c.72475A>G (p.Ile24159Val)
|
rs371764714
|
0.00007
|
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)
|
rs199532781
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
NM_001365999.1(SZT2):c.9287-8T>C
|
rs183871754
|
0.00007
|
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)
|
rs373364340
|
0.00007
|
NM_001379500.1(COL18A1):c.651+17C>T
|
rs578202936
|
0.00007
|
NM_001384474.1(LOXHD1):c.2599-12C>T
|
rs892676326
|
0.00007
|
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
|
rs758746181
|
0.00007
|
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg)
|
rs200314049
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_002755.4(MAP2K1):c.1068+18G>A
|
rs369137482
|
0.00007
|
NM_002755.4(MAP2K1):c.292-3C>T
|
rs55694358
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)
|
rs370531842
|
0.00007
|
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)
|
rs750210485
|
0.00007
|
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln)
|
rs372970842
|
0.00007
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
NM_004415.4(DSP):c.1044+12G>A
|
rs775969969
|
0.00007
|
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_005188.4(CBL):c.1299G>A (p.Pro433=)
|
rs199633558
|
0.00007
|
NM_005188.4(CBL):c.1443G>T (p.Pro481=)
|
rs768111719
|
0.00007
|
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln)
|
rs564049659
|
0.00007
|
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)
|
rs137852761
|
0.00007
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=)
|
rs727505181
|
0.00007
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)
|
rs730881026
|
0.00007
|
NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu)
|
rs144749616
|
0.00007
|
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)
|
rs568626378
|
0.00007
|
NM_006231.4(POLE):c.6331-8C>T
|
rs769766403
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_007294.4(BRCA1):c.593+3G>A
|
rs80358013
|
0.00007
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_016035.5(COQ4):c.202G>C (p.Asp68His)
|
rs758522459
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn)
|
rs573006534
|
0.00007
|
NM_020778.5(ALPK3):c.182+9A>G
|
rs200942386
|
0.00007
|
NM_022114.4(PRDM16):c.*15G>A
|
rs771401380
|
0.00007
|
NM_024334.3(TMEM43):c.-4C>T
|
rs760598925
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_030662.4(MAP2K2):c.825G>A (p.Leu275=)
|
rs587781027
|
0.00007
|
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)
|
rs369843642
|
0.00007
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu)
|
rs750093817
|
0.00007
|
NM_053025.4(MYLK):c.2070G>A (p.Thr690=)
|
rs141049942
|
0.00007
|
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr)
|
rs147840022
|
0.00007
|
NM_053025.4(MYLK):c.5238+6G>A
|
rs769544580
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
NM_139076.3(ABRAXAS1):c.178+9T>C
|
rs367733190
|
0.00007
|
NM_144670.6(A2ML1):c.1477-13T>C
|
rs778863549
|
0.00007
|
NM_144988.4(ALG14):c.136+1G>C
|
rs150550220
|
0.00007
|
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)
|
rs200091654
|
0.00007
|
NM_174936.4(PCSK9):c.609C>T (p.Thr203=)
|
rs200856421
|
0.00007
|
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu)
|
rs201749293
|
0.00007
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
NM_000038.6(APC):c.1005A>G (p.Leu335=)
|
rs3797704
|
0.00006
|
NM_000038.6(APC):c.1139G>A (p.Arg380Gln)
|
rs587782886
|
0.00006
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)
|
rs730881270
|
0.00006
|
NM_000040.3(APOC3):c.126C>T (p.Thr42=)
|
rs533891893
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)
|
rs143489373
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000053.4(ATP7B):c.4022-19C>T
|
rs369736734
|
0.00006
|
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)
|
rs184657475
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00006
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)
|
rs147381487
|
0.00006
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=)
|
rs56331088
|
0.00006
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)
|
rs374191973
|
0.00006
|
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=)
|
rs202022822
|
0.00006
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)
|
rs587782601
|
0.00006
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
rs80358862
|
0.00006
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
rs371067421
|
0.00006
|
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=)
|
rs587780870
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)
|
rs80359123
|
0.00006
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
rs80359218
|
0.00006
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=)
|
rs200917999
|
0.00006
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=)
|
rs371345820
|
0.00006
|
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)
|
rs376248130
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)
|
rs59086055
|
0.00006
|
NM_000110.4(DPYD):c.2579del (p.Gln860fs)
|
rs746991079
|
0.00006
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.178T>C (p.Leu60=)
|
rs35819209
|
0.00006
|
NM_000179.3(MSH6):c.2724A>G (p.Glu908=)
|
rs35389622
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=)
|
rs140366118
|
0.00006
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
rs104895182
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
|
rs769364808
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000249.4(MLH1):c.69A>G (p.Glu23=)
|
rs63750555
|
0.00006
|
NM_000249.4(MLH1):c.954C>T (p.His318=)
|
rs146777069
|
0.00006
|
NM_000251.3(MSH2):c.1077-7A>G
|
rs370807334
|
0.00006
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000251.3(MSH2):c.2634+7C>G
|
rs905179122
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys)
|
rs730880575
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)
|
rs745803719
|
0.00006
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=)
|
rs41312407
|
0.00006
|
NM_000337.6(SGCD):c.295-20C>A
|
rs144250417
|
0.00006
|
NM_000352.6(ABCC8):c.1924-13A>G
|
rs369865762
|
0.00006
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)
|
rs200517023
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
|
rs72547561
|
0.00006
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)
|
rs104893843
|
0.00006
|
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)
|
rs148499544
|
0.00006
|
NM_000410.4(HFE):c.175G>A (p.Val59Met)
|
rs111033557
|
0.00006
|
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
|
rs76811038
|
0.00006
|
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe)
|
rs560139751
|
0.00006
|
NM_000441.2(SLC26A4):c.-4+5G>A
|
rs727503425
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000451.4(SHOX):c.547G>A (p.Val183Ile)
|
rs752189039
|
0.00006
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
NM_000455.5(STK11):c.1257C>T (p.Ser419=)
|
rs375328708
|
0.00006
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
NM_000455.5(STK11):c.921-10G>A
|
rs183406870
|
0.00006
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
NM_000458.4(HNF1B):c.1339+17G>A
|
rs374854968
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
NM_000492.4(CFTR):c.2604A>G (p.Val868=)
|
rs1800105
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000493.4(COL10A1):c.737T>C (p.Ile246Thr)
|
rs764388204
|
0.00006
|
NM_000518.5(HBB):c.316-189A>G
|
rs1034207896
|
0.00006
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000527.5(LDLR):c.1846-10G>T
|
rs368243304
|
0.00006
|
NM_000527.5(LDLR):c.1887C>T (p.Phe629=)
|
rs751234870
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_000535.7(PMS2):c.1145-10G>A
|
rs533551639
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)
|
rs17882252
|
0.00006
|
NM_000546.6(TP53):c.248C>T (p.Ala83Val)
|
rs201717599
|
0.00006
|
NM_000546.6(TP53):c.618G>A (p.Leu206=)
|
rs142813240
|
0.00006
|
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=)
|
rs145033857
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001003841.3(SLC6A19):c.1117G>A (p.Ala373Thr)
|
rs775834401
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)
|
rs148364390
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001018005.2(TPM1):c.493-18T>G
|
rs377726678
|
0.00006
|
NM_001035.3(RYR2):c.14808+17A>C
|
rs368520821
|
0.00006
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=)
|
rs368826662
|
0.00006
|
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=)
|
rs368207198
|
0.00006
|
NM_001037.5(SCN1B):c.448+8G>C
|
rs200222933
|
0.00006
|
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)
|
rs140523180
|
0.00006
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
NM_001079872.2(CUL4B):c.*7G>A
|
rs769730471
|
0.00006
|
NM_001085049.3(MRAS):c.291G>A (p.Lys97=)
|
rs548156011
|
0.00006
|
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=)
|
rs137890030
|
0.00006
|
NM_001103.4(ACTN2):c.354C>T (p.Gly118=)
|
rs539250948
|
0.00006
|
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=)
|
rs749565466
|
0.00006
|
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=)
|
rs145489423
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)
|
rs374299043
|
0.00006
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn)
|
rs540445580
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)
|
rs150808807
|
0.00006
|
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)
|
rs143043717
|
0.00006
|
NM_001148.6(ANK2):c.2679A>G (p.Gly893=)
|
rs766183219
|
0.00006
|
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg)
|
rs534934297
|
0.00006
|
NM_001148.6(ANK2):c.8484T>C (p.Asp2828=)
|
rs371140760
|
0.00006
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)
|
rs140102105
|
0.00006
|
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
|
rs72554056
|
0.00006
|
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys)
|
rs756142773
|
0.00006
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00006
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)
|
rs397517487
|
0.00006
|
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)
|
rs760007747
|
0.00006
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00006
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)
|
rs563954136
|
0.00006
|
NM_001267550.2(TTN):c.39547+19T>C
|
rs559113689
|
0.00006
|
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)
|
rs200931793
|
0.00006
|
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)
|
rs768914789
|
0.00006
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)
|
rs138367112
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys)
|
rs761241302
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)
|
rs183056142
|
0.00006
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys)
|
rs201724962
|
0.00006
|
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)
|
rs368914555
|
0.00006
|
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu)
|
rs368058280
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)
|
rs200621611
|
0.00006
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile)
|
rs184078016
|
0.00006
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)
|
rs104893970
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)
|
rs202002052
|
0.00006
|
NM_001378778.1(MPDZ):c.2776G>A (p.Ala926Thr)
|
rs144992780
|
0.00006
|
NM_001386795.1(DTNA):c.603+15T>C
|
rs367772080
|
0.00006
|
NM_001414.4(EIF2B1):c.252+1G>A
|
rs113994006
|
0.00006
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
NM_001458.5(FLNC):c.6114C>T (p.Ile2038=)
|
rs559639511
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_001943.5(DSG2):c.1491C>T (p.Pro497=)
|
rs587780928
|
0.00006
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
NM_002230.4(JUP):c.1055-14del
|
rs140002183
|
0.00006
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
NM_002230.4(JUP):c.561C>T (p.Ala187=)
|
rs139552714
|
0.00006
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)
|
rs149650190
|
0.00006
|
NM_002471.4(MYH6):c.2293-19A>G
|
rs375891567
|
0.00006
|
NM_002471.4(MYH6):c.4245A>G (p.Ser1415=)
|
rs779697115
|
0.00006
|
NM_002471.4(MYH6):c.4525+13T>C
|
rs397516770
|
0.00006
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002524.5(NRAS):c.36T>G (p.Gly12=)
|
rs759764705
|
0.00006
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
NM_002691.4(POLD1):c.1893-6A>C
|
rs963949260
|
0.00006
|
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp)
|
rs780138978
|
0.00006
|
NM_002691.4(POLD1):c.2700C>T (p.His900=)
|
rs769965495
|
0.00006
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu)
|
rs202171795
|
0.00006
|
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=)
|
rs201774040
|
0.00006
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_002834.5(PTPN11):c.853+17C>T
|
rs746692191
|
0.00006
|
NM_002878.4(RAD51D):c.145-4G>A
|
rs201361465
|
0.00006
|
NM_002880.4(RAF1):c.1107C>T (p.His369=)
|
rs761947194
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003239.5(TGFB3):c.504C>T (p.Ile168=)
|
rs148029842
|
0.00006
|
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)
|
rs764100439
|
0.00006
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg)
|
rs752974260
|
0.00006
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
NM_004204.5(PIGQ):c.942+1G>A
|
rs200661329
|
0.00006
|
NM_004281.4(BAG3):c.693G>A (p.Thr231=)
|
rs144034433
|
0.00006
|
NM_004333.6(BRAF):c.1433-5T>C
|
rs587780861
|
0.00006
|
NM_004333.6(BRAF):c.505-12A>G
|
rs377433501
|
0.00006
|
NM_004333.6(BRAF):c.52C>G (p.Leu18Val)
|
rs1222192591
|
0.00006
|
NM_004360.5(CDH1):c.2136G>T (p.Gly712=)
|
rs763402728
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004360.5(CDH1):c.2637C>T (p.Gly879=)
|
rs141001592
|
0.00006
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
NM_004415.4(DSP):c.2437-20T>G
|
rs778134276
|
0.00006
|
NM_004415.4(DSP):c.4320G>A (p.Val1440=)
|
rs571103583
|
0.00006
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
NM_004415.4(DSP):c.8268A>C (p.Ile2756=)
|
rs397516963
|
0.00006
|
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)
|
rs1131691336
|
0.00006
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_004655.4(AXIN2):c.1201-7C>T
|
rs760667639
|
0.00006
|
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val)
|
rs201531372
|
0.00006
|
NM_004985.5(KRAS):c.451-5560T>A
|
rs373169526
|
0.00006
|
NM_005188.4(CBL):c.2252-8T>C
|
rs555179188
|
0.00006
|
NM_005343.4(HRAS):c.369C>T (p.Arg123=)
|
rs200945755
|
0.00006
|
NM_005477.3(HCN4):c.2634C>G (p.Ser878=)
|
rs748478312
|
0.00006
|
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)
|
rs767494615
|
0.00006
|
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)
|
rs201120953
|
0.00006
|
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp)
|
rs369560280
|
0.00006
|
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)
|
rs546600149
|
0.00006
|
NM_005902.4(SMAD3):c.990C>T (p.Thr330=)
|
rs774470515
|
0.00006
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_006231.4(POLE):c.1794+5C>T
|
rs200095915
|
0.00006
|
NM_006231.4(POLE):c.3459+8C>T
|
rs375852759
|
0.00006
|
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
|
rs200611081
|
0.00006
|
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)
|
rs199562456
|
0.00006
|
NM_006506.5(RASA2):c.1942G>A (p.Ala648Thr)
|
rs769395361
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=)
|
rs139261473
|
0.00006
|
NM_006767.4(LZTR1):c.2325+17G>A
|
rs570834637
|
0.00006
|
NM_006767.4(LZTR1):c.372C>T (p.Val124=)
|
rs371891909
|
0.00006
|
NM_006767.4(LZTR1):c.593+11G>A
|
rs200649588
|
0.00006
|
NM_006912.6(RIT1):c.106+15C>T
|
rs755316223
|
0.00006
|
NM_006939.4(SOS2):c.2700C>T (p.Asp900=)
|
rs369410641
|
0.00006
|
NM_006939.4(SOS2):c.720C>T (p.Ile240=)
|
rs373852615
|
0.00006
|
NM_007078.3(LDB3):c.1521C>T (p.Thr507=)
|
rs200838004
|
0.00006
|
NM_007078.3(LDB3):c.689+9C>T
|
rs727503124
|
0.00006
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
NM_007294.4(BRCA1):c.135-3T>C
|
rs759417413
|
0.00006
|
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)
|
rs533802049
|
0.00006
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)
|
rs111539978
|
0.00006
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln)
|
rs80357337
|
0.00006
|
NM_007294.4(BRCA1):c.301+7G>A
|
rs80358113
|
0.00006
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
NM_007294.4(BRCA1):c.795T>C (p.Ser265=)
|
rs201441987
|
0.00006
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)
|
rs200015085
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)
|
rs147484763
|
0.00006
|
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly)
|
rs748354087
|
0.00006
|
NM_015141.4(GPD1L):c.996C>T (p.Tyr332=)
|
rs149423659
|
0.00006
|
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
|
rs375168720
|
0.00006
|
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His)
|
rs764291274
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
NM_016955.4(SEPSECS):c.388+3A>G
|
rs757504141
|
0.00006
|
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
NM_018006.5(TRMU):c.82+5G>C
|
rs771076163
|
0.00006
|
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys)
|
rs573971701
|
0.00006
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)
|
rs387907308
|
0.00006
|
NM_021098.3(CACNA1H):c.4567-4A>G
|
rs1055632728
|
0.00006
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)
|
rs201180239
|
0.00006
|
NM_030662.4(MAP2K2):c.*20G>A
|
rs377441764
|
0.00006
|
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)
|
rs730880514
|
0.00006
|
NM_030662.4(MAP2K2):c.451-7C>T
|
rs780396876
|
0.00006
|
NM_030662.4(MAP2K2):c.903C>T (p.Pro301=)
|
rs560316877
|
0.00006
|
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu)
|
rs544857720
|
0.00006
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe)
|
rs779637525
|
0.00006
|
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val)
|
rs56385445
|
0.00006
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
NM_033337.3(CAV3):c.39C>T (p.Ile13=)
|
rs200562715
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala)
|
rs750686734
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_139076.3(ABRAXAS1):c.18G>A (p.Thr6=)
|
rs752871858
|
0.00006
|
NM_139076.3(ABRAXAS1):c.476+5A>C
|
rs753767582
|
0.00006
|
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=)
|
rs747281942
|
0.00006
|
NM_144670.6(A2ML1):c.4061+11_4061+12del
|
rs767089812
|
0.00006
|
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys)
|
rs199919065
|
0.00006
|
NM_144670.6(A2ML1):c.973G>A (p.Val325Met)
|
rs749156731
|
0.00006
|
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His)
|
rs576243101
|
0.00006
|
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)
|
rs201573515
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_174936.4(PCSK9):c.429C>T (p.Ile143=)
|
rs368511429
|
0.00006
|
NM_174936.4(PCSK9):c.657+8C>T
|
rs376502208
|
0.00006
|
NM_174936.4(PCSK9):c.939C>G (p.Thr313=)
|
rs534113572
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
NM_000038.6(APC):c.7878T>G (p.Thr2626=)
|
rs757020188
|
0.00005
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)
|
rs749989641
|
0.00005
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.2967T>C (p.Thr989=)
|
rs144145128
|
0.00005
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000059.4(BRCA2):c.1749G>A (p.Leu583=)
|
rs780324598
|
0.00005
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)
|
rs80358776
|
0.00005
|
NM_000059.4(BRCA2):c.7007+18T>A
|
rs377471435
|
0.00005
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_000059.4(BRCA2):c.750G>A (p.Val250=)
|
rs143214959
|
0.00005
|
NM_000059.4(BRCA2):c.796T>C (p.Phe266Leu)
|
rs587782433
|
0.00005
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=)
|
rs368576266
|
0.00005
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=)
|
rs80359811
|
0.00005
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)
|
rs542783734
|
0.00005
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)
|
rs764920787
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
NM_000179.3(MSH6):c.2239C>T (p.Leu747=)
|
rs63751305
|
0.00005
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=)
|
rs2229018
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000219.6(KCNE1):c.-5C>A
|
rs191334763
|
0.00005
|
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)
|
rs201551805
|
0.00005
|
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr)
|
rs121912525
|
0.00005
|
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)
|
rs140686447
|
0.00005
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
NM_000249.4(MLH1):c.1128T>C (p.Asp376=)
|
rs267607824
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000249.4(MLH1):c.1392T>C (p.Pro464=)
|
rs63750201
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=)
|
rs397515996
|
0.00005
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)
|
rs773767253
|
0.00005
|
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)
|
rs751678290
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_000314.8(PTEN):c.*5T>C
|
rs1006891299
|
0.00005
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)
|
rs145265791
|
0.00005
|
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)
|
rs375144225
|
0.00005
|
NM_000371.4(TTR):c.437A>G (p.Lys146Arg)
|
rs536294863
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser)
|
rs750834241
|
0.00005
|
NM_000455.5(STK11):c.237C>T (p.Ile79=)
|
rs751859508
|
0.00005
|
NM_000455.5(STK11):c.366G>A (p.Lys122=)
|
rs376969448
|
0.00005
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
NM_000455.5(STK11):c.666C>T (p.Pro222=)
|
rs542189325
|
0.00005
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
NM_000458.4(HNF1B):c.1239C>T (p.Val413=)
|
rs201113814
|
0.00005
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
NM_000465.4(BARD1):c.1353A>T (p.Gly451=)
|
rs369564500
|
0.00005
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
NM_000465.4(BARD1):c.738A>G (p.Pro246=)
|
rs587780859
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
NM_000518.5(HBB):c.316-30A>C
|
rs193922558
|
0.00005
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00005
|
NM_000546.6(TP53):c.*6T>A
|
rs369567704
|
0.00005
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
0.00005
|
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=)
|
rs757236915
|
0.00005
|
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His)
|
rs759208930
|
0.00005
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro)
|
rs61752371
|
0.00005
|
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg)
|
rs61749701
|
0.00005
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe)
|
rs202064483
|
0.00005
|
NM_001148.6(ANK2):c.813T>C (p.His271=)
|
rs774848857
|
0.00005
|
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=)
|
rs774858072
|
0.00005
|
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)
|
rs745800110
|
0.00005
|
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)
|
rs192391568
|
0.00005
|
NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)
|
rs765274398
|
0.00005
|
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)
|
rs769165258
|
0.00005
|
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)
|
rs375652574
|
0.00005
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00005
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser)
|
rs751157908
|
0.00005
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)
|
rs376737897
|
0.00005
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)
|
rs369284316
|
0.00005
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_001386795.1(DTNA):c.675G>A (p.Leu225=)
|
rs376519672
|
0.00005
|
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser)
|
rs370064150
|
0.00005
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)
|
rs750886219
|
0.00005
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
NM_002529.4(NTRK1):c.575-19G>A
|
rs370828525
|
0.00005
|
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)
|
rs369739920
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)
|
rs387906861
|
0.00005
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004360.5(CDH1):c.699C>T (p.His233=)
|
rs115494727
|
0.00005
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_004484.4(GPC3):c.168C>G (p.Pro56=)
|
rs188592483
|
0.00005
|
NM_005005.3(NDUFB9):c.1A>G (p.Met1Val)
|
rs369824948
|
0.00005
|
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)
|
rs538054260
|
0.00005
|
NM_005343.4(HRAS):c.222C>T (p.Thr74=)
|
rs372223975
|
0.00005
|
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=)
|
rs113545983
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_005502.4(ABCA1):c.5757+12C>T
|
rs769533549
|
0.00005
|
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)
|
rs755177846
|
0.00005
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_006734.4(HIVEP2):c.5621-7G>T
|
rs749037306
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_006767.4(LZTR1):c.1416G>A (p.Arg472=)
|
rs367740343
|
0.00005
|
NM_006767.4(LZTR1):c.1785+19G>A
|
rs777075178
|
0.00005
|
NM_006767.4(LZTR1):c.2514C>T (p.Ala838=)
|
rs772037780
|
0.00005
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)
|
rs201727685
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile)
|
rs80357364
|
0.00005
|
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=)
|
rs730881451
|
0.00005
|
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=)
|
rs587780863
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_007294.4(BRCA1):c.670+16G>A
|
rs199916228
|
0.00005
|
NM_007315.4(STAT1):c.1582+7G>A
|
rs762378892
|
0.00005
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_017617.5(NOTCH1):c.743-4G>T
|
rs748001079
|
0.00005
|
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=)
|
rs201158068
|
0.00005
|
NM_019616.4(F7):c.868G>A (p.Val290Met)
|
rs201991361
|
0.00005
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
NM_021913.5(AXL):c.236C>T (p.Ala79Val)
|
rs776776986
|
0.00005
|
NM_022114.4(PRDM16):c.3405C>T (p.Ala1135=)
|
rs765114438
|
0.00005
|
NM_024334.3(TMEM43):c.442+12G>C
|
rs530183718
|
0.00005
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
NM_024675.4(PALB2):c.2442G>A (p.Glu814=)
|
rs140776736
|
0.00005
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=)
|
rs201287884
|
0.00005
|
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val)
|
rs765672841
|
0.00005
|
NM_032119.4(ADGRV1):c.4703G>A (p.Ser1568Asn)
|
rs758104018
|
0.00005
|
NM_033337.3(CAV3):c.451G>A (p.Val151Ile)
|
rs780870487
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His)
|
rs104886285
|
0.00005
|
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu)
|
rs746690413
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His)
|
rs372629661
|
0.00005
|
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met)
|
rs755702632
|
0.00005
|
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)
|
rs770077517
|
0.00005
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
NM_152594.3(SPRED1):c.685-8T>C
|
rs760690837
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=)
|
rs199815786
|
0.00005
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
NM_175914.5(HNF4A):c.241G>A (p.Val81Met)
|
rs772786482
|
0.00005
|
NM_176869.3(PPA2):c.476C>T (p.Thr159Met)
|
rs752062224
|
0.00005
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)
|
rs373057729
|
0.00004
|
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)
|
rs759158371
|
0.00004
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000038.6(APC):c.2297C>T (p.Ala766Val)
|
rs200339830
|
0.00004
|
NM_000038.6(APC):c.2778T>C (p.Ser926=)
|
rs371526966
|
0.00004
|
NM_000038.6(APC):c.2838A>G (p.Thr946=)
|
rs142835322
|
0.00004
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)
|
rs730881249
|
0.00004
|
NM_000038.6(APC):c.4233T>C (p.Ser1411=)
|
rs761170573
|
0.00004
|
NM_000038.6(APC):c.4416A>T (p.Val1472=)
|
rs773352404
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
NM_000038.6(APC):c.6219T>G (p.Gly2073=)
|
rs766559927
|
0.00004
|
NM_000038.6(APC):c.6387G>A (p.Ser2129=)
|
rs374310157
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000038.6(APC):c.7095A>G (p.Ser2365=)
|
rs747844776
|
0.00004
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000038.6(APC):c.8042C>T (p.Pro2681Leu)
|
rs182456139
|
0.00004
|
NM_000038.6(APC):c.8061A>G (p.Ser2687=)
|
rs746180965
|
0.00004
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
NM_000038.6(APC):c.8325G>A (p.Gly2775=)
|
rs770719841
|
0.00004
|
NM_000040.3(APOC3):c.99G>A (p.Gln33=)
|
rs200557528
|
0.00004
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.1953A>G (p.Leu651=)
|
rs730881283
|
0.00004
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
NM_000051.4(ATM):c.3994-7C>T
|
rs769346400
|
0.00004
|
NM_000051.4(ATM):c.4146A>G (p.Pro1382=)
|
rs147738621
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)
|
rs730881279
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000055.4(BCHE):c.1574A>T (p.Glu525Val)
|
rs121918556
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.316+13A>G
|
rs773097109
|
0.00004
|
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=)
|
rs786201327
|
0.00004
|
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)
|
rs80358657
|
0.00004
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
rs397507793
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala)
|
rs148618542
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
rs397507365
|
0.00004
|
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)
|
rs80358865
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
NM_000059.4(BRCA2):c.631+18G>A
|
rs759965817
|
0.00004
|
NM_000059.4(BRCA2):c.67+19T>C
|
rs587780865
|
0.00004
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
NM_000059.4(BRCA2):c.6841+11A>G
|
rs730881592
|
0.00004
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00004
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00004
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)
|
rs45457795
|
0.00004
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)
|
rs202131129
|
0.00004
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=)
|
rs751586391
|
0.00004
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)
|
rs193922159
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)
|
rs537768945
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00004
|
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)
|
rs777425216
|
0.00004
|
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)
|
rs367619008
|
0.00004
|
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)
|
rs759372918
|
0.00004
|
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)
|
rs568132506
|
0.00004
|
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)
|
rs774078839
|
0.00004
|
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)
|
rs587779902
|
0.00004
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=)
|
rs754598297
|
0.00004
|
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)
|
rs202190197
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000179.3(MSH6):c.1068T>C (p.Gly356=)
|
rs749752524
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
NM_000179.3(MSH6):c.1974G>A (p.Val658=)
|
rs372916347
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000179.3(MSH6):c.2418C>T (p.Ser806=)
|
rs770992427
|
0.00004
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00004
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn)
|
rs781333509
|
0.00004
|
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)
|
rs141401803
|
0.00004
|
NM_000243.3(MEFV):c.1587+7G>A
|
rs375555497
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000249.4(MLH1):c.1284T>C (p.Asp428=)
|
rs772555970
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
NM_000251.3(MSH2):c.1830C>T (p.His610=)
|
rs766326295
|
0.00004
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
|
rs368918487
|
0.00004
|
NM_000257.4(MYH7):c.12G>A (p.Ser4=)
|
rs45561941
|
0.00004
|
NM_000257.4(MYH7):c.1482T>C (p.Phe494=)
|
rs587781088
|
0.00004
|
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)
|
rs776282574
|
0.00004
|
NM_000257.4(MYH7):c.633G>A (p.Pro211=)
|
rs587781087
|
0.00004
|
NM_000258.3(MYL3):c.246G>A (p.Ala82=)
|
rs368364468
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)
|
rs267608247
|
0.00004
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000303.3(PMM2):c.640-15479C>T
|
rs1258107584
|
0.00004
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
NM_000314.8(PTEN):c.*10T>A
|
rs769236743
|
0.00004
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
NM_000335.5(SCN5A):c.1065C>T (p.Phe355=)
|
rs45570333
|
0.00004
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=)
|
rs201460445
|
0.00004
|
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)
|
rs753641926
|
0.00004
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
NM_000416.3(IFNGR1):c.135C>T (p.Ile45=)
|
rs148104171
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)
|
rs553752236
|
0.00004
|
NM_000455.5(STK11):c.1200G>A (p.Leu400=)
|
rs368661707
|
0.00004
|
NM_000455.5(STK11):c.432G>A (p.Pro144=)
|
rs376788924
|
0.00004
|
NM_000455.5(STK11):c.651G>A (p.Pro217=)
|
rs368348370
|
0.00004
|
NM_000455.5(STK11):c.723T>C (p.Ala241=)
|
rs533550278
|
0.00004
|
NM_000455.5(STK11):c.795G>A (p.Glu265=)
|
rs730881963
|
0.00004
|
NM_000465.4(BARD1):c.1788A>G (p.Lys596=)
|
rs777084777
|
0.00004
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00004
|
NM_000465.4(BARD1):c.253G>T (p.Val85Leu)
|
rs370359540
|
0.00004
|
NM_000465.4(BARD1):c.365-7C>T
|
rs745929983
|
0.00004
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)
|
rs199669988
|
0.00004
|
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)
|
rs121918010
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
NM_000518.5(HBB):c.316-81T>A
|
rs911937119
|
0.00004
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000535.7(PMS2):c.1197G>A (p.Lys399=)
|
rs757730609
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000535.7(PMS2):c.1806C>G (p.Ala602=)
|
rs376046767
|
0.00004
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000535.7(PMS2):c.2358G>C (p.Leu786=)
|
rs535056715
|
0.00004
|
NM_000535.7(PMS2):c.831G>A (p.Thr277=)
|
rs116481522
|
0.00004
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
NM_000546.6(TP53):c.102C>G (p.Pro34=)
|
rs11575998
|
0.00004
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00004
|
NM_000546.6(TP53):c.246G>A (p.Pro82=)
|
rs372397095
|
0.00004
|
NM_000546.6(TP53):c.255T>C (p.Pro85=)
|
rs775515332
|
0.00004
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
NM_000546.6(TP53):c.469G>A (p.Val157Ile)
|
rs121912654
|
0.00004
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)
|
rs192567788
|
0.00004
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)
|
rs63750751
|
0.00004
|
NM_000719.7(CACNA1C):c.1114-10G>A
|
rs371725005
|
0.00004
|
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)
|
rs202058956
|
0.00004
|
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=)
|
rs587780882
|
0.00004
|
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn)
|
rs181502604
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)
|
rs377381866
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
NM_001032283.3(TMPO):c.565+1304T>A
|
rs142500409
|
0.00004
|
NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)
|
rs757559168
|
0.00004
|
NM_001035.3(RYR2):c.1005+7C>T
|
rs774100182
|
0.00004
|
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
|
rs755308070
|
0.00004
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
NM_001035.3(RYR2):c.7386A>G (p.Pro2462=)
|
rs546545700
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)
|
rs200229669
|
0.00004
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-6C>T
|
rs376600220
|
0.00004
|
NM_001048174.2(MUTYH):c.325C>T (p.Leu109=)
|
rs368963039
|
0.00004
|
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)
|
rs146044717
|
0.00004
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
NM_001077365.2(POMT1):c.699+85C>G
|
rs369000699
|
0.00004
|
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=)
|
rs141884271
|
0.00004
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
|
rs782239416
|
0.00004
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
NM_001142800.2(EYS):c.3164+7A>T
|
rs963551759
|
0.00004
|
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)
|
rs1161453292
|
0.00004
|
NM_001148.6(ANK2):c.11864A>G (p.Asn3955Ser)
|
rs201555985
|
0.00004
|
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg)
|
rs140189724
|
0.00004
|
NM_001148.6(ANK2):c.6973G>C (p.Asp2325His)
|
rs1298469624
|
0.00004
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00004
|
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)
|
rs370624118
|
0.00004
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
0.00004
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)
|
rs527924868
|
0.00004
|
NM_001267550.2(TTN):c.197C>T (p.Thr66Met)
|
rs372755739
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.24227-15C>T
|
rs397517505
|
0.00004
|
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)
|
rs397517507
|
0.00004
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)
|
rs778338717
|
0.00004
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
NM_001267550.2(TTN):c.40409-1G>A
|
rs1285884266
|
0.00004
|
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=)
|
rs397517604
|
0.00004
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00004
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)
|
rs377529060
|
0.00004
|
NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr)
|
rs755700079
|
0.00004
|
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)
|
rs567446185
|
0.00004
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)
|
rs755117644
|
0.00004
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00004
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)
|
rs200651247
|
0.00004
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
NM_001267550.2(TTN):c.95395A>G (p.Ile31799Val)
|
rs370916420
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)
|
rs552069173
|
0.00004
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)
|
rs547012639
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00004
|
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)
|
rs754320812
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00004
|
NM_001378454.1(ALMS1):c.9782-19C>A
|
rs777706370
|
0.00004
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=)
|
rs181548456
|
0.00004
|
NM_001384732.1(CPLANE1):c.8410C>T (p.Pro2804Ser)
|
rs377107065
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=)
|
rs542483546
|
0.00004
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
NM_002230.4(JUP):c.945C>T (p.Leu315=)
|
rs146804895
|
0.00004
|
NM_002294.3(LAMP2):c.-7C>T
|
rs762305947
|
0.00004
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser)
|
rs763280025
|
0.00004
|
NM_002485.5(NBN):c.-10A>T
|
rs759094270
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
NM_002691.4(POLD1):c.2250+4G>A
|
rs370478977
|
0.00004
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
NM_002691.4(POLD1):c.3204C>T (p.Asp1068=)
|
rs759019419
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=)
|
rs117639566
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)
|
rs760187622
|
0.00004
|
NM_002878.4(RAD51D):c.264-7C>T
|
rs753529790
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met)
|
rs730881007
|
0.00004
|
NM_002880.4(RAF1):c.570C>T (p.Ile190=)
|
rs780912024
|
0.00004
|
NM_003098.3(SNTA1):c.1158G>A (p.Pro386=)
|
rs774320273
|
0.00004
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=)
|
rs532098604
|
0.00004
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.6118-13T>G
|
rs750033728
|
0.00004
|
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp)
|
rs369523358
|
0.00004
|
NM_004281.4(BAG3):c.181-15C>T
|
rs397516882
|
0.00004
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile)
|
rs141864044
|
0.00004
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
0.00004
|
NM_004360.5(CDH1):c.1392C>T (p.Val464=)
|
rs373811706
|
0.00004
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
NM_004360.5(CDH1):c.1936+8C>T
|
rs776624068
|
0.00004
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)
|
rs746598421
|
0.00004
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)
|
rs138656762
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=)
|
rs145097078
|
0.00004
|
NM_005359.6(SMAD4):c.228A>G (p.Arg76=)
|
rs587780556
|
0.00004
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005559.4(LAMA1):c.7875C>T (p.Val2625=)
|
rs114578861
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys)
|
rs141501083
|
0.00004
|
NM_005902.4(SMAD3):c.608-15T>C
|
rs371614939
|
0.00004
|
NM_006231.4(POLE):c.1560A>G (p.Gln520=)
|
rs201841065
|
0.00004
|
NM_006231.4(POLE):c.4150-6C>T
|
rs756837862
|
0.00004
|
NM_006231.4(POLE):c.555C>T (p.Asp185=)
|
rs763871536
|
0.00004
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
NM_006506.5(RASA2):c.2400C>T (p.Ile800=)
|
rs144565084
|
0.00004
|
NM_006506.5(RASA2):c.615T>C (p.Asn205=)
|
rs767353410
|
0.00004
|
NM_006506.5(RASA2):c.717C>T (p.Ser239=)
|
rs183729614
|
0.00004
|
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=)
|
rs267599808
|
0.00004
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
NM_006767.4(LZTR1):c.1260+16G>A
|
rs376876059
|
0.00004
|
NM_006767.4(LZTR1):c.1353+16C>T
|
rs143592070
|
0.00004
|
NM_006767.4(LZTR1):c.1450-14C>T
|
rs767640622
|
0.00004
|
NM_006767.4(LZTR1):c.1943-4C>G
|
rs368391573
|
0.00004
|
NM_006767.4(LZTR1):c.2247C>T (p.Tyr749=)
|
rs779077819
|
0.00004
|
NM_006767.4(LZTR1):c.2274G>A (p.Ala758=)
|
rs144870586
|
0.00004
|
NM_006767.4(LZTR1):c.2355A>G (p.Ala785=)
|
rs751681487
|
0.00004
|
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)
|
rs764439278
|
0.00004
|
NM_006767.4(LZTR1):c.400+10C>T
|
rs375186405
|
0.00004
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)
|
rs747031778
|
0.00004
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
NM_007194.4(CHEK2):c.1008+8A>G
|
rs139986197
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
NM_007294.4(BRCA1):c.-16A>G
|
rs777262055
|
0.00004
|
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=)
|
rs777228325
|
0.00004
|
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=)
|
rs775032066
|
0.00004
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00004
|
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)
|
rs80357374
|
0.00004
|
NM_007294.4(BRCA1):c.1893A>C (p.Leu631=)
|
rs80356834
|
0.00004
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
NM_007294.4(BRCA1):c.288C>T (p.Asp96=)
|
rs146085503
|
0.00004
|
NM_007294.4(BRCA1):c.2979A>G (p.Lys993=)
|
rs772854836
|
0.00004
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_007294.4(BRCA1):c.366T>G (p.Val122=)
|
rs190900046
|
0.00004
|
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)
|
rs80357483
|
0.00004
|
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)
|
rs80357407
|
0.00004
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His)
|
rs80357022
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His)
|
rs80356906
|
0.00004
|
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)
|
rs80356909
|
0.00004
|
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala)
|
rs145466894
|
0.00004
|
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=)
|
rs28897697
|
0.00004
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)
|
rs80357088
|
0.00004
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln)
|
rs773433679
|
0.00004
|
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)
|
rs397517231
|
0.00004
|
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe)
|
rs146453758
|
0.00004
|
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met)
|
rs781358846
|
0.00004
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
NM_017613.4(DONSON):c.1047-9A>G
|
rs779149681
|
0.00004
|
NM_017617.5(NOTCH1):c.1903+10C>G
|
rs375704312
|
0.00004
|
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)
|
rs373386030
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
NM_018668.5(VPS33B):c.1170+5G>A
|
rs201431055
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
|
rs199517715
|
0.00004
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)
|
rs78257946
|
0.00004
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2082A>G (p.Thr694=)
|
rs781440401
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=)
|
rs141570833
|
0.00004
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
NM_030662.4(MAP2K2):c.240G>A (p.Ala80=)
|
rs543217722
|
0.00004
|
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)
|
rs759061964
|
0.00004
|
NM_030662.4(MAP2K2):c.456C>T (p.Gly152=)
|
rs143106439
|
0.00004
|
NM_030662.4(MAP2K2):c.528+11C>T
|
rs369913089
|
0.00004
|
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)
|
rs147276536
|
0.00004
|
NM_030662.4(MAP2K2):c.93-6C>T
|
rs727504836
|
0.00004
|
NM_032043.3(BRIP1):c.1935+7T>C
|
rs201024366
|
0.00004
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
|
rs550815037
|
0.00004
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met)
|
rs727504591
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser)
|
rs757653472
|
0.00004
|
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)
|
rs375038682
|
0.00004
|
NM_054012.4(ASS1):c.892del (p.Glu298fs)
|
rs770362721
|
0.00004
|
NM_057176.3(BSND):c.22C>T (p.Arg8Trp)
|
rs74315285
|
0.00004
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
NM_133459.4(CCBE1):c.916-2A>G
|
rs367990953
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly)
|
rs142910445
|
0.00004
|
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter)
|
rs201698934
|
0.00004
|
NM_139076.3(ABRAXAS1):c.676T>C (p.Leu226=)
|
rs769383568
|
0.00004
|
NM_144573.4(NEXN):c.1065T>C (p.Asp355=)
|
rs369897647
|
0.00004
|
NM_144670.6(A2ML1):c.1476+15C>T
|
rs759159005
|
0.00004
|
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile)
|
rs769726608
|
0.00004
|
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu)
|
rs758305694
|
0.00004
|
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val)
|
rs753161669
|
0.00004
|
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met)
|
rs201083574
|
0.00004
|
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu)
|
rs190379856
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)
|
rs141423405
|
0.00004
|
NM_174934.4(SCN4B):c.*7C>T
|
rs79071006
|
0.00004
|
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)
|
rs185392267
|
0.00004
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
NM_182760.4(SUMF1):c.602+1G>A
|
rs143616931
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NR_003051.3(RMRP):n.64C>T
|
rs786204684
|
0.00004
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
NM_000038.6(APC):c.1405C>T (p.Leu469=)
|
rs746293695
|
0.00003
|
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)
|
rs137854580
|
0.00003
|
NM_000038.6(APC):c.1686G>A (p.Thr562=)
|
rs770256026
|
0.00003
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
NM_000038.6(APC):c.379A>G (p.Ser127Gly)
|
rs200089324
|
0.00003
|
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg)
|
rs766739164
|
0.00003
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
NM_000038.6(APC):c.7731A>G (p.Ser2577=)
|
rs537187449
|
0.00003
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000044.6(AR):c.2659A>G (p.Met887Val)
|
rs755226547
|
0.00003
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000051.4(ATM):c.1332C>A (p.Pro444=)
|
rs763361384
|
0.00003
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
NM_000051.4(ATM):c.2187C>T (p.Tyr729=)
|
rs373430058
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
NM_000051.4(ATM):c.4674G>A (p.Thr1558=)
|
rs876658474
|
0.00003
|
NM_000051.4(ATM):c.5550A>G (p.Leu1850=)
|
rs35850088
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000051.4(ATM):c.8152-6C>T
|
rs200389039
|
0.00003
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
NM_000051.4(ATM):c.9006C>T (p.Phe3002=)
|
rs540172506
|
0.00003
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg)
|
rs115129687
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)
|
rs779228375
|
0.00003
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
rs80358570
|
0.00003
|
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=)
|
rs4986856
|
0.00003
|
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys)
|
rs80358606
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
NM_000059.4(BRCA2):c.3711T>C (p.Ala1237=)
|
rs745588537
|
0.00003
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=)
|
rs786201377
|
0.00003
|
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile)
|
rs397507714
|
0.00003
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00003
|
NM_000059.4(BRCA2):c.627C>T (p.Leu209=)
|
rs28897704
|
0.00003
|
NM_000059.4(BRCA2):c.632-13T>G
|
rs775947267
|
0.00003
|
NM_000059.4(BRCA2):c.632-16A>C
|
rs81002905
|
0.00003
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
NM_000059.4(BRCA2):c.7596C>T (p.Pro2532=)
|
rs748631472
|
0.00003
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00003
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=)
|
rs556762256
|
0.00003
|
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)
|
rs45469092
|
0.00003
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)
|
rs121964965
|
0.00003
|
NM_000075.4(CDK4):c.549C>T (p.Pro183=)
|
rs778696237
|
0.00003
|
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)
|
rs146464862
|
0.00003
|
NM_000088.4(COL1A1):c.3045+3G>A
|
rs41316695
|
0.00003
|
NM_000090.4(COL3A1):c.1816-4T>C
|
rs765128089
|
0.00003
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
NM_000096.4(CP):c.583G>A (p.Gly195Arg)
|
rs750451693
|
0.00003
|
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys)
|
rs1374394802
|
0.00003
|
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)
|
rs147601618
|
0.00003
|
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)
|
rs141597515
|
0.00003
|
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
|
rs386833497
|
0.00003
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000141.5(FGFR2):c.2195+7G>A
|
rs377397478
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)
|
rs374635469
|
0.00003
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00003
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00003
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)
|
rs381418
|
0.00003
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)
|
rs764608975
|
0.00003
|
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
NM_000162.5(GCK):c.138G>A (p.Arg46=)
|
rs550111033
|
0.00003
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val)
|
rs587782331
|
0.00003
|
NM_000179.3(MSH6):c.1167C>T (p.Pro389=)
|
rs1042819
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000179.3(MSH6):c.1785A>G (p.Leu595=)
|
rs767325893
|
0.00003
|
NM_000179.3(MSH6):c.1917G>A (p.Glu639=)
|
rs368059229
|
0.00003
|
NM_000179.3(MSH6):c.2319C>T (p.Leu773=)
|
rs63749895
|
0.00003
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
NM_000179.3(MSH6):c.3173-10C>T
|
rs587780559
|
0.00003
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)
|
rs747771350
|
0.00003
|
NM_000179.3(MSH6):c.393A>C (p.Val131=)
|
rs752488540
|
0.00003
|
NM_000218.3(KCNQ1):c.1514+3G>A
|
rs374767819
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=)
|
rs760047145
|
0.00003
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu)
|
rs749759697
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)
|
rs373394254
|
0.00003
|
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
rs104895077
|
0.00003
|
NM_000246.4(CIITA):c.2888+1G>A
|
rs372826934
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000249.4(MLH1):c.453+20G>T
|
rs759417195
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)
|
rs747700106
|
0.00003
|
NM_000251.3(MSH2):c.594A>G (p.Glu198=)
|
rs369685768
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)
|
rs766898310
|
0.00003
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
NM_000314.8(PTEN):c.855A>G (p.Glu285=)
|
rs751888926
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)
|
rs757483045
|
0.00003
|
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)
|
rs137853291
|
0.00003
|
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=)
|
rs376734571
|
0.00003
|
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)
|
rs199473191
|
0.00003
|
NM_000335.5(SCN5A):c.3508+11G>A
|
rs200058362
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000359.3(TGM1):c.248G>A (p.Arg83Gln)
|
rs771051927
|
0.00003
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=)
|
rs1047569721
|
0.00003
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp)
|
rs1293482406
|
0.00003
|
NM_000455.5(STK11):c.464+10C>T
|
rs587782445
|
0.00003
|
NM_000455.5(STK11):c.552C>T (p.Leu184=)
|
rs587780719
|
0.00003
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
NM_000455.5(STK11):c.615G>A (p.Ala205=)
|
rs532889728
|
0.00003
|
NM_000455.5(STK11):c.876C>T (p.Tyr292=)
|
rs148928808
|
0.00003
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)
|
rs121918017
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000518.4(HBB):c.404T>C (p.Val135Ala)
|
rs33966761
|
0.00003
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
NM_000518.5(HBB):c.-75G>C
|
rs63750400
|
0.00003
|
NM_000518.5(HBB):c.316-12T>C
|
rs781604042
|
0.00003
|
NM_000518.5(HBB):c.316-28G>A
|
rs771736852
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_000535.7(PMS2):c.681C>T (p.Ile227=)
|
rs188813057
|
0.00003
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.345+15G>A
|
rs199755207
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
NM_000546.6(TP53):c.180A>C (p.Pro60=)
|
rs749289195
|
0.00003
|
NM_000546.6(TP53):c.188C>G (p.Ala63Gly)
|
rs372201428
|
0.00003
|
NM_000546.6(TP53):c.920-5C>T
|
rs34361146
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)
|
rs72549322
|
0.00003
|
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)
|
rs765269946
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001018005.2(TPM1):c.375-3C>T
|
rs202228866
|
0.00003
|
NM_001018005.2(TPM1):c.563+347C>T
|
rs759081217
|
0.00003
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
NM_001035.3(RYR2):c.2396+10T>C
|
rs745329806
|
0.00003
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
NM_001103.4(ACTN2):c.18C>T (p.Pro6=)
|
rs368367224
|
0.00003
|
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys)
|
rs141563497
|
0.00003
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=)
|
rs1045844360
|
0.00003
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp)
|
rs748573794
|
0.00003
|
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala)
|
rs769091762
|
0.00003
|
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)
|
rs777829351
|
0.00003
|
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)
|
rs556552435
|
0.00003
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
NM_001267550.2(TTN):c.25829A>G (p.His8610Arg)
|
rs561059250
|
0.00003
|
NM_001267550.2(TTN):c.26380T>G (p.Leu8794Val)
|
rs372229450
|
0.00003
|
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg)
|
rs372820178
|
0.00003
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00003
|
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys)
|
rs376117402
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=)
|
rs750270873
|
0.00003
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln)
|
rs72677250
|
0.00003
|
NM_001267550.2(TTN):c.65276-16C>T
|
rs370634364
|
0.00003
|
NM_001267550.2(TTN):c.7975C>G (p.Leu2659Val)
|
rs747894424
|
0.00003
|
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)
|
rs371498697
|
0.00003
|
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met)
|
rs727503543
|
0.00003
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr)
|
rs745962752
|
0.00003
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr)
|
rs746586029
|
0.00003
|
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala)
|
rs576759867
|
0.00003
|
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)
|
rs148516831
|
0.00003
|
NM_001278116.2(L1CAM):c.3322+11G>A
|
rs1372534909
|
0.00003
|
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg)
|
rs1282824691
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001354604.2(MITF):c.1569G>A (p.Glu523=)
|
rs200830148
|
0.00003
|
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)
|
rs750345068
|
0.00003
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)
|
rs779401555
|
0.00003
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)
|
rs606231229
|
0.00003
|
NM_001365951.3(KIF1B):c.2115+6213G>T
|
rs587777883
|
0.00003
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
NM_001378452.1(ITPR1):c.7272+15T>A
|
rs777868994
|
0.00003
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
NM_001379500.1(COL18A1):c.1221+12C>T
|
rs765348415
|
0.00003
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His)
|
rs139464953
|
0.00003
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu)
|
rs200622119
|
0.00003
|
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=)
|
rs747205071
|
0.00003
|
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)
|
rs141933412
|
0.00003
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)
|
rs548046212
|
0.00003
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
NM_002485.5(NBN):c.207A>G (p.Lys69=)
|
rs754352569
|
0.00003
|
NM_002529.4(NTRK1):c.1354+1G>T
|
rs764771898
|
0.00003
|
NM_002637.4(PHKA1):c.2606+1G>A
|
rs373517016
|
0.00003
|
NM_002691.4(POLD1):c.841-10A>G
|
rs140160345
|
0.00003
|
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr)
|
rs369210646
|
0.00003
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
NM_002878.4(RAD51D):c.481-8C>T
|
rs762247126
|
0.00003
|
NM_002880.4(RAF1):c.1109-17G>C
|
rs770431112
|
0.00003
|
NM_002880.4(RAF1):c.1821G>A (p.Glu607=)
|
rs747437834
|
0.00003
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)
|
rs199689597
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
|
rs121908889
|
0.00003
|
NM_003098.3(SNTA1):c.114C>T (p.Asp38=)
|
rs780018849
|
0.00003
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr)
|
rs777274879
|
0.00003
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
NM_004333.6(BRAF):c.1068A>G (p.Gln356=)
|
rs143335467
|
0.00003
|
NM_004333.6(BRAF):c.1694+14G>A
|
rs184144181
|
0.00003
|
NM_004333.6(BRAF):c.2136C>T (p.Ala712=)
|
rs377165711
|
0.00003
|
NM_004333.6(BRAF):c.708C>T (p.Asn236=)
|
rs138333692
|
0.00003
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_004360.5(CDH1):c.1689C>T (p.Ala563=)
|
rs587780786
|
0.00003
|
NM_004360.5(CDH1):c.2331C>T (p.Asp777=)
|
rs114265540
|
0.00003
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
NM_004360.5(CDH1):c.688-4T>C
|
rs781633588
|
0.00003
|
NM_004360.5(CDH1):c.753G>A (p.Thr251=)
|
rs371996897
|
0.00003
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp)
|
rs863224110
|
0.00003
|
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)
|
rs386833887
|
0.00003
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro)
|
rs138294250
|
0.00003
|
NM_005343.4(HRAS):c.54G>A (p.Ala18=)
|
rs148380285
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_005359.6(SMAD4):c.956-3T>C
|
rs748283001
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
NM_005502.4(ABCA1):c.302+17G>T
|
rs367919230
|
0.00003
|
NM_005502.4(ABCA1):c.3515A>G (p.Glu1172Gly)
|
rs142877738
|
0.00003
|
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg)
|
rs775987152
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005751.5(AKAP9):c.6330+19T>C
|
rs376744370
|
0.00003
|
NM_005901.6(SMAD2):c.784+7T>A
|
rs1429670443
|
0.00003
|
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)
|
rs776483190
|
0.00003
|
NM_006231.4(POLE):c.5313G>A (p.Thr1771=)
|
rs201803493
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_007078.3(LDB3):c.900C>A (p.Thr300=)
|
rs760071118
|
0.00003
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg)
|
rs28897674
|
0.00003
|
NM_007294.4(BRCA1):c.5075-6C>A
|
rs397507240
|
0.00003
|
NM_007294.4(BRCA1):c.507G>A (p.Gln169=)
|
rs759882045
|
0.00003
|
NM_007294.4(BRCA1):c.5152+15A>G
|
rs750905289
|
0.00003
|
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)
|
rs80357171
|
0.00003
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)
|
rs55680408
|
0.00003
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln)
|
rs781156571
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)
|
rs778055996
|
0.00003
|
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)
|
rs748812981
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_016203.4(PRKAG2):c.*2C>T
|
rs199559205
|
0.00003
|
NM_016203.4(PRKAG2):c.1584+8G>A
|
rs762649633
|
0.00003
|
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)
|
rs773969315
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)
|
rs776248931
|
0.00003
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=)
|
rs2287626
|
0.00003
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)
|
rs121908373
|
0.00003
|
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)
|
rs755042147
|
0.00003
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)
|
rs771006240
|
0.00003
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu)
|
rs533275736
|
0.00003
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024675.4(PALB2):c.108+12G>A
|
rs558824045
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
|
rs761922947
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=)
|
rs374807671
|
0.00003
|
NM_030662.4(MAP2K2):c.581-9C>T
|
rs539611844
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=)
|
rs555200296
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
NM_032119.4(ADGRV1):c.18601A>C (p.Asn6201His)
|
rs201299038
|
0.00003
|
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
|
rs547076322
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033629.6(TREX1):c.-26-1G>A
|
rs749323787
|
0.00003
|
NM_052859.4(RFT1):c.200G>A (p.Arg67His)
|
rs753527390
|
0.00003
|
NM_053025.4(MYLK):c.344G>A (p.Arg115His)
|
rs141131535
|
0.00003
|
NM_053025.4(MYLK):c.4838-3C>T
|
rs776825316
|
0.00003
|
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp)
|
rs773329088
|
0.00003
|
NM_130837.3(OPA1):c.611-9A>G
|
rs372157755
|
0.00003
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)
|
rs769549962
|
0.00003
|
NM_144670.6(A2ML1):c.1833+10T>C
|
rs753086817
|
0.00003
|
NM_144670.6(A2ML1):c.21A>G (p.Leu7=)
|
rs529431349
|
0.00003
|
NM_144670.6(A2ML1):c.3339+20G>A
|
rs758617412
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_174934.4(SCN4B):c.464-12C>T
|
rs375056921
|
0.00003
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr)
|
rs201176444
|
0.00003
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000038.6(APC):c.1554G>A (p.Thr518=)
|
rs546568052
|
0.00002
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
NM_000038.6(APC):c.288T>C (p.Tyr96=)
|
rs376213437
|
0.00002
|
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)
|
rs201797422
|
0.00002
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
NM_000038.6(APC):c.6670A>G (p.Ile2224Val)
|
rs374597207
|
0.00002
|
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys)
|
rs543396310
|
0.00002
|
NM_000038.6(APC):c.7821C>T (p.Ser2607=)
|
rs532235331
|
0.00002
|
NM_000038.6(APC):c.8199A>G (p.Gln2733=)
|
rs372365378
|
0.00002
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)
|
rs1449589636
|
0.00002
|
NM_000051.4(ATM):c.1629T>G (p.Thr543=)
|
rs760285673
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)
|
rs770697446
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.5005+8A>G
|
rs1204604787
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00002
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)
|
rs80358405
|
0.00002
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)
|
rs80358454
|
0.00002
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)
|
rs80358468
|
0.00002
|
NM_000059.4(BRCA2):c.183A>G (p.Leu61=)
|
rs776638534
|
0.00002
|
NM_000059.4(BRCA2):c.2094A>G (p.Leu698=)
|
rs28897714
|
0.00002
|
NM_000059.4(BRCA2):c.2391G>A (p.Lys797=)
|
rs587776462
|
0.00002
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=)
|
rs45619134
|
0.00002
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
rs80358528
|
0.00002
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg)
|
rs1064793927
|
0.00002
|
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val)
|
rs80358571
|
0.00002
|
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr)
|
rs28897719
|
0.00002
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
rs80358577
|
0.00002
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
rs80358603
|
0.00002
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=)
|
rs768735660
|
0.00002
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00002
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
NM_000059.4(BRCA2):c.534A>G (p.Lys178=)
|
rs28897703
|
0.00002
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00002
|
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=)
|
rs768907899
|
0.00002
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)
|
rs80358823
|
0.00002
|
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)
|
rs41293505
|
0.00002
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=)
|
rs587780660
|
0.00002
|
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=)
|
rs138067005
|
0.00002
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.794-11T>C
|
rs81002822
|
0.00002
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
NM_000059.4(BRCA2):c.8331+16C>G
|
rs730881595
|
0.00002
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)
|
rs146120136
|
0.00002
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
rs80359114
|
0.00002
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His)
|
rs80359150
|
0.00002
|
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr)
|
rs56179254
|
0.00002
|
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=)
|
rs587782428
|
0.00002
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=)
|
rs80359198
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)
|
rs55835607
|
0.00002
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
NM_000077.5(CDKN2A):c.*6C>G
|
rs375628411
|
0.00002
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
NM_000091.5(COL4A3):c.4027+10C>T
|
rs778737711
|
0.00002
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
0.00002
|
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp)
|
rs376588113
|
0.00002
|
NM_000117.3(EMD):c.276C>T (p.Asp92=)
|
rs782680849
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
NM_000152.5(GAA):c.-2C>T
|
rs560511228
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)
|
rs774526353
|
0.00002
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)
|
rs761765983
|
0.00002
|
NM_000163.5(GHR):c.206C>T (p.Thr69Ile)
|
rs75028043
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00002
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
NM_000179.3(MSH6):c.1509C>T (p.Ser503=)
|
rs545020313
|
0.00002
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
NM_000179.3(MSH6):c.1773A>G (p.Pro591=)
|
rs752239740
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
NM_000179.3(MSH6):c.3786G>A (p.Val1262=)
|
rs760771483
|
0.00002
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
NM_000207.3(INS):c.266G>A (p.Arg89His)
|
rs28933985
|
0.00002
|
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=)
|
rs775479779
|
0.00002
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
NM_000251.3(MSH2):c.1276+7A>G
|
rs748554540
|
0.00002
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=)
|
rs754870909
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=)
|
rs762154672
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000257.4(MYH7):c.354G>A (p.Ser118=)
|
rs368925624
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)
|
rs111534474
|
0.00002
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00002
|
NM_000314.8(PTEN):c.411A>G (p.Ala137=)
|
rs144545031
|
0.00002
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)
|
rs1034528249
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=)
|
rs587781161
|
0.00002
|
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)
|
rs199473140
|
0.00002
|
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala)
|
rs759036311
|
0.00002
|
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=)
|
rs193922725
|
0.00002
|
NM_000335.5(SCN5A):c.453C>T (p.His151=)
|
rs199996750
|
0.00002
|
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)
|
rs756853742
|
0.00002
|
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr)
|
rs375783686
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
|
rs72547573
|
0.00002
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000393.5(COL5A2):c.799-6A>G
|
rs111586240
|
0.00002
|
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln)
|
rs200870056
|
0.00002
|
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)
|
rs121965016
|
0.00002
|
NM_000410.4(HFE):c.892G>T (p.Glu298Ter)
|
rs749553271
|
0.00002
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
|
rs104893981
|
0.00002
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn)
|
rs994170964
|
0.00002
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
NM_000455.5(STK11):c.-9G>A
|
rs770466669
|
0.00002
|
NM_000455.5(STK11):c.1108+3G>A
|
rs755746417
|
0.00002
|
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)
|
rs372329880
|
0.00002
|
NM_000455.5(STK11):c.735C>G (p.Leu245=)
|
rs773147894
|
0.00002
|
NM_000455.5(STK11):c.984C>G (p.Thr328=)
|
rs730881965
|
0.00002
|
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)
|
rs760029254
|
0.00002
|
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)
|
rs766076920
|
0.00002
|
NM_000478.6(ALPL):c.815G>A (p.Arg272His)
|
rs781272386
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)
|
rs1375757476
|
0.00002
|
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)
|
rs148092995
|
0.00002
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val)
|
rs994764994
|
0.00002
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
NM_000518.5(HBB):c.359G>A (p.Gly120Asp)
|
rs33947020
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg)
|
rs746982741
|
0.00002
|
NM_000527.5(LDLR):c.1706-21_1706-19del
|
rs386134242
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
NM_000527.5(LDLR):c.993C>T (p.Asp331=)
|
rs147905921
|
0.00002
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser)
|
rs200726484
|
0.00002
|
NM_000535.7(PMS2):c.1629C>T (p.Asp543=)
|
rs111673299
|
0.00002
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
NM_000535.7(PMS2):c.23+7G>C
|
rs878854047
|
0.00002
|
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)
|
rs1313207845
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr)
|
rs771629253
|
0.00002
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
NM_000546.6(TP53):c.18A>C (p.Ser6=)
|
rs573130482
|
0.00002
|
NM_000546.6(TP53):c.464C>G (p.Thr155Ser)
|
rs786202752
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.468C>T (p.Arg156=)
|
rs761222871
|
0.00002
|
NM_000546.6(TP53):c.510G>A (p.Thr170=)
|
rs757544615
|
0.00002
|
NM_000546.6(TP53):c.582T>C (p.Leu194=)
|
rs370216745
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)
|
rs769295096
|
0.00002
|
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
|
rs370599966
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln)
|
rs751555693
|
0.00002
|
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=)
|
rs781557399
|
0.00002
|
NM_001035.3(RYR2):c.463+7A>G
|
rs755850445
|
0.00002
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)
|
rs368598407
|
0.00002
|
NM_001085049.3(MRAS):c.22A>G (p.Ser8Gly)
|
rs547745521
|
0.00002
|
NM_001085049.3(MRAS):c.369C>T (p.Leu123=)
|
rs145069429
|
0.00002
|
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=)
|
rs148223734
|
0.00002
|
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)
|
rs193922676
|
0.00002
|
NM_001110792.2(MECP2):c.414-6C>G
|
rs782482746
|
0.00002
|
NM_001110792.2(MECP2):c.645G>A (p.Thr215=)
|
rs61749722
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)
|
rs151127289
|
0.00002
|
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val)
|
rs531261130
|
0.00002
|
NM_001148.6(ANK2):c.9703C>T (p.Pro3235Ser)
|
rs202098889
|
0.00002
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
NM_001197104.2(KMT2A):c.10901-5A>G
|
rs369909433
|
0.00002
|
NM_001220.5(CAMK2B):c.1176+9C>G
|
rs766988307
|
0.00002
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala)
|
rs201240519
|
0.00002
|
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)
|
rs369619711
|
0.00002
|
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)
|
rs768211726
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00002
|
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)
|
rs371496970
|
0.00002
|
NM_001267550.2(TTN):c.28754-11T>C
|
rs146738622
|
0.00002
|
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=)
|
rs770084292
|
0.00002
|
NM_001267550.2(TTN):c.33657G>A (p.Pro11219=)
|
rs754038093
|
0.00002
|
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)
|
rs375391365
|
0.00002
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00002
|
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His)
|
rs574313741
|
0.00002
|
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=)
|
rs199742163
|
0.00002
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)
|
rs548223512
|
0.00002
|
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)
|
rs568193318
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)
|
rs397517703
|
0.00002
|
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)
|
rs766419568
|
0.00002
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
NM_001330.5(CTF1):c.83G>A (p.Arg28His)
|
rs201703547
|
0.00002
|
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro)
|
rs753009673
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)
|
rs775773057
|
0.00002
|
NM_001369268.1(ACAN):c.553C>A (p.Pro185Thr)
|
rs751285545
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)
|
rs1278648561
|
0.00002
|
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)
|
rs750954043
|
0.00002
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
NM_001457.4(FLNB):c.5051A>G (p.Tyr1684Cys)
|
rs376280025
|
0.00002
|
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
0.00002
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)
|
rs773954315
|
0.00002
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)
|
rs765290711
|
0.00002
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
NM_002474.3(MYH11):c.2112G>A (p.Val704=)
|
rs781085663
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val)
|
rs767712281
|
0.00002
|
NM_002878.4(RAD51D):c.738+3G>A
|
rs751062153
|
0.00002
|
NM_002878.4(RAD51D):c.792C>G (p.Leu264=)
|
rs536544621
|
0.00002
|
NM_002880.4(RAF1):c.1668+4A>G
|
rs771344560
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_002880.4(RAF1):c.934G>A (p.Val312Met)
|
rs555034652
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
NM_003098.3(SNTA1):c.702-7C>G
|
rs780688953
|
0.00002
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
NM_004006.3(DMD):c.6072T>C (p.Cys2024=)
|
rs373804251
|
0.00002
|
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)
|
rs770931871
|
0.00002
|
NM_004281.4(BAG3):c.897C>T (p.Val299=)
|
rs763915884
|
0.00002
|
NM_004329.3(BMPR1A):c.-8A>G
|
rs546681014
|
0.00002
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
NM_004333.6(BRAF):c.138+17C>G
|
rs756400234
|
0.00002
|
NM_004341.5(CAD):c.1547G>A (p.Arg516Gln)
|
rs772639350
|
0.00002
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
NM_004360.5(CDH1):c.1977G>A (p.Glu659=)
|
rs368243190
|
0.00002
|
NM_004360.5(CDH1):c.2103C>T (p.Val701=)
|
rs730881656
|
0.00002
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)
|
rs727504081
|
0.00002
|
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)
|
rs777965779
|
0.00002
|
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
|
rs386833874
|
0.00002
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)
|
rs755254230
|
0.00002
|
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)
|
rs753656470
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)
|
rs150855173
|
0.00002
|
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter)
|
rs386833953
|
0.00002
|
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys)
|
rs767181570
|
0.00002
|
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp)
|
rs779614400
|
0.00002
|
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp)
|
rs774980346
|
0.00002
|
NM_005343.4(HRAS):c.*1C>T
|
rs730880327
|
0.00002
|
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)
|
rs780716382
|
0.00002
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
NM_005502.4(ABCA1):c.4050+8G>A
|
rs371581830
|
0.00002
|
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)
|
rs118203901
|
0.00002
|
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)
|
rs372068015
|
0.00002
|
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)
|
rs758258471
|
0.00002
|
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)
|
rs376950905
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln)
|
rs201738371
|
0.00002
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
NM_006767.4(LZTR1):c.1615+4C>T
|
rs551144605
|
0.00002
|
NM_006767.4(LZTR1):c.1749C>T (p.Cys583=)
|
rs758399311
|
0.00002
|
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=)
|
rs370009707
|
0.00002
|
NM_006767.4(LZTR1):c.2326-6T>C
|
rs199965510
|
0.00002
|
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)
|
rs750831299
|
0.00002
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007294.4(BRCA1):c.*20C>T
|
rs375042815
|
0.00002
|
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu)
|
rs41286290
|
0.00002
|
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn)
|
rs80357181
|
0.00002
|
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)
|
rs80356994
|
0.00002
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly)
|
rs28897684
|
0.00002
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=)
|
rs368690455
|
0.00002
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
NM_007294.4(BRCA1):c.4676-7C>T
|
rs80358005
|
0.00002
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
NM_007294.4(BRCA1):c.5153-6C>A
|
rs80358129
|
0.00002
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
NM_007294.4(BRCA1):c.522A>G (p.Gln174=)
|
rs765432756
|
0.00002
|
NM_007294.4(BRCA1):c.5277+20G>A
|
rs766950602
|
0.00002
|
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=)
|
rs759867616
|
0.00002
|
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=)
|
rs754152768
|
0.00002
|
NM_007294.4(BRCA1):c.5402G>A (p.Gly1801Asp)
|
rs531210457
|
0.00002
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
NM_007373.4(SHOC2):c.894A>C (p.Ala298=)
|
rs767912952
|
0.00002
|
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala)
|
rs779218281
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)
|
rs104894424
|
0.00002
|
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)
|
rs1470124674
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_014639.4(SKIC3):c.3637G>A (p.Gly1213Arg)
|
rs763389035
|
0.00002
|
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)
|
rs772757427
|
0.00002
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys)
|
rs143486835
|
0.00002
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
NM_016938.5(EFEMP2):c.368-5C>T
|
rs201248112
|
0.00002
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)
|
rs773023974
|
0.00002
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
NM_019098.5(CNGB3):c.1320+4A>G
|
rs1026427970
|
0.00002
|
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=)
|
rs764155671
|
0.00002
|
NM_020297.4(ABCC9):c.928C>T (p.Leu310=)
|
rs747640613
|
0.00002
|
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)
|
rs767150990
|
0.00002
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
NM_020778.5(ALPK3):c.4093+15C>T
|
rs771455330
|
0.00002
|
NM_021871.4(FGA):c.904C>G (p.Pro302Ala)
|
rs200203992
|
0.00002
|
NM_022436.3(ABCG5):c.282G>A (p.Thr94=)
|
rs756339433
|
0.00002
|
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)
|
rs761389904
|
0.00002
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser)
|
rs532872056
|
0.00002
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
NM_024675.4(PALB2):c.2418G>A (p.Pro806=)
|
rs577076372
|
0.00002
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
|
rs119470018
|
0.00002
|
NM_025099.6(CTC1):c.1360del (p.Glu454fs)
|
rs748852501
|
0.00002
|
NM_030662.4(MAP2K2):c.450+13G>A
|
rs572847821
|
0.00002
|
NM_030662.4(MAP2K2):c.450+14G>A
|
rs397517414
|
0.00002
|
NM_030662.4(MAP2K2):c.529-10T>C
|
rs551098822
|
0.00002
|
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)
|
rs370547023
|
0.00002
|
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln)
|
rs782428636
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)
|
rs113697814
|
0.00002
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr)
|
rs748194962
|
0.00002
|
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)
|
rs730880422
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_053025.4(MYLK):c.2760C>T (p.Ala920=)
|
rs368080781
|
0.00002
|
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
NM_058216.3(RAD51C):c.705+10A>G
|
rs377586976
|
0.00002
|
NM_058216.3(RAD51C):c.945T>C (p.Phe315=)
|
rs201235884
|
0.00002
|
NM_058216.3(RAD51C):c.948T>C (p.His316=)
|
rs773196250
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)
|
rs1303599332
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
0.00002
|
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=)
|
rs201335448
|
0.00002
|
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val)
|
rs775772721
|
0.00002
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_152594.3(SPRED1):c.879G>A (p.Leu293=)
|
rs535687467
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln)
|
rs374704368
|
0.00002
|
NM_176787.5(PIGN):c.787C>A (p.His263Asn)
|
rs376934090
|
0.00002
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NR_003051.4(RMRP):n.16G>T
|
rs902313238
|
0.00002
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
0.00001
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)
|
rs147442301
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
NM_000018.4(ACADVL):c.138+1G>A
|
rs747351687
|
0.00001
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)
|
rs771121666
|
0.00001
|
NM_000027.4(AGA):c.395-8A>G
|
rs386833426
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NM_000038.6(APC):c.1050T>G (p.Ser350=)
|
rs760345157
|
0.00001
|
NM_000038.6(APC):c.1580G>C (p.Arg527Thr)
|
rs1554081889
|
0.00001
|
NM_000038.6(APC):c.1626+4C>A
|
rs1202435147
|
0.00001
|
NM_000038.6(APC):c.2280A>G (p.Leu760=)
|
rs767947015
|
0.00001
|
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)
|
rs199740875
|
0.00001
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
NM_000038.6(APC):c.3909A>G (p.Gln1303=)
|
rs746289994
|
0.00001
|
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)
|
rs529480958
|
0.00001
|
NM_000038.6(APC):c.5298T>C (p.Asp1766=)
|
rs781533317
|
0.00001
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
NM_000038.6(APC):c.5952T>C (p.Asn1984=)
|
rs142019870
|
0.00001
|
NM_000038.6(APC):c.597G>A (p.Ala199=)
|
rs587780601
|
0.00001
|
NM_000038.6(APC):c.6492C>T (p.Gly2164=)
|
rs765332758
|
0.00001
|
NM_000038.6(APC):c.6948A>G (p.Pro2316=)
|
rs202144406
|
0.00001
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
NM_000038.6(APC):c.764A>G (p.His255Arg)
|
rs530670052
|
0.00001
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
0.00001
|
NM_000038.6(APC):c.8100T>C (p.Asn2700=)
|
rs761326128
|
0.00001
|
NM_000038.6(APC):c.993G>A (p.Ser331=)
|
rs148343173
|
0.00001
|
NM_000039.3(APOA1):c.201-9A>G
|
rs377207262
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg)
|
rs1301059768
|
0.00001
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)
|
rs377217076
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
NM_000051.4(ATM):c.185+10T>C
|
rs1555054317
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.2577C>T (p.Asn859=)
|
rs730881286
|
0.00001
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
NM_000051.4(ATM):c.4611+9C>G
|
rs760704159
|
0.00001
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
NM_000051.4(ATM):c.5005+9C>T
|
rs730881291
|
0.00001
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5674+6C>G
|
rs780204400
|
0.00001
|
NM_000051.4(ATM):c.6006+8T>C
|
rs56019194
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7116T>C (p.Asp2372=)
|
rs3218675
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
NM_000051.4(ATM):c.7788+7G>A
|
rs749610251
|
0.00001
|
NM_000051.4(ATM):c.8229G>A (p.Thr2743=)
|
rs150603052
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.8574T>C (p.Thr2858=)
|
rs786203415
|
0.00001
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_000051.4(ATM):c.876G>A (p.Pro292=)
|
rs755860432
|
0.00001
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
NM_000051.4(ATM):c.8850+10T>C
|
rs762487236
|
0.00001
|
NM_000051.4(ATM):c.8922G>A (p.Pro2974=)
|
rs527248759
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
0.00001
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)
|
rs780327716
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)
|
rs767218895
|
0.00001
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)
|
rs193922104
|
0.00001
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
NM_000053.4(ATP7B):c.3060+5G>T
|
rs1353373400
|
0.00001
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
0.00001
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
0.00001
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)
|
rs1555282316
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
|
rs121918557
|
0.00001
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=)
|
rs113507014
|
0.00001
|
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)
|
rs28897761
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His)
|
rs535952730
|
0.00001
|
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His)
|
rs542343726
|
0.00001
|
NM_000059.4(BRCA2):c.1059A>G (p.Ser353=)
|
rs730881585
|
0.00001
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.1584C>T (p.Asn528=)
|
rs730881587
|
0.00001
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)
|
rs80358467
|
0.00001
|
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=)
|
rs755049218
|
0.00001
|
NM_000059.4(BRCA2):c.2133C>T (p.Cys711=)
|
rs535547513
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=)
|
rs730881589
|
0.00001
|
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp)
|
rs55736268
|
0.00001
|
NM_000059.4(BRCA2):c.2739C>T (p.Asp913=)
|
rs276174829
|
0.00001
|
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)
|
rs431825298
|
0.00001
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
rs80358530
|
0.00001
|
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=)
|
rs367921107
|
0.00001
|
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)
|
rs398122756
|
0.00001
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
NM_000059.4(BRCA2):c.316+18G>A
|
rs760439858
|
0.00001
|
NM_000059.4(BRCA2):c.324T>C (p.Asn108=)
|
rs772010158
|
0.00001
|
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)
|
rs543748012
|
0.00001
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
rs369294255
|
0.00001
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
rs80358592
|
0.00001
|
NM_000059.4(BRCA2):c.3495T>C (p.His1165=)
|
rs776655838
|
0.00001
|
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)
|
rs202230438
|
0.00001
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
NM_000059.4(BRCA2):c.3693T>C (p.Thr1231=)
|
rs751232859
|
0.00001
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
rs80358616
|
0.00001
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
NM_000059.4(BRCA2):c.3874C>T (p.Leu1292=)
|
rs587780867
|
0.00001
|
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)
|
rs276174840
|
0.00001
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=)
|
rs770531115
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)
|
rs80358664
|
0.00001
|
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)
|
rs80358667
|
0.00001
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
rs80358677
|
0.00001
|
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)
|
rs80358678
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
rs276174845
|
0.00001
|
NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=)
|
rs750813972
|
0.00001
|
NM_000059.4(BRCA2):c.4747A>G (p.Ile1583Val)
|
rs56072130
|
0.00001
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
NM_000059.4(BRCA2):c.516+17G>C
|
rs765435155
|
0.00001
|
NM_000059.4(BRCA2):c.517-11T>C
|
rs81002828
|
0.00001
|
NM_000059.4(BRCA2):c.517-17A>G
|
rs1060504603
|
0.00001
|
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)
|
rs80358745
|
0.00001
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)
|
rs80358757
|
0.00001
|
NM_000059.4(BRCA2):c.53G>A (p.Arg18His)
|
rs80358762
|
0.00001
|
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=)
|
rs372951842
|
0.00001
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
rs587782375
|
0.00001
|
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)
|
rs80358797
|
0.00001
|
NM_000059.4(BRCA2):c.5745G>A (p.Thr1915=)
|
rs1799953
|
0.00001
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile)
|
rs587781402
|
0.00001
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=)
|
rs372527810
|
0.00001
|
NM_000059.4(BRCA2):c.636A>G (p.Arg212=)
|
rs950724350
|
0.00001
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=)
|
rs587780658
|
0.00001
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
NM_000059.4(BRCA2):c.6675A>G (p.Thr2225=)
|
rs28897741
|
0.00001
|
NM_000059.4(BRCA2):c.67+18A>G
|
rs1057524048
|
0.00001
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
NM_000059.4(BRCA2):c.682-13A>G
|
rs81002888
|
0.00001
|
NM_000059.4(BRCA2):c.6842-19A>G
|
rs81002865
|
0.00001
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu)
|
rs80358918
|
0.00001
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)
|
rs80358941
|
0.00001
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)
|
rs80358955
|
0.00001
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
0.00001
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)
|
rs80358973
|
0.00001
|
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr)
|
rs80358974
|
0.00001
|
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=)
|
rs759383358
|
0.00001
|
NM_000059.4(BRCA2):c.7602G>A (p.Ala2534=)
|
rs81002826
|
0.00001
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
rs398122587
|
0.00001
|
NM_000059.4(BRCA2):c.7683G>A (p.Gln2561=)
|
rs786201304
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.7805+11C>A
|
rs1060504610
|
0.00001
|
NM_000059.4(BRCA2):c.7805+8A>G
|
rs81002847
|
0.00001
|
NM_000059.4(BRCA2):c.7806-6del
|
rs764374133
|
0.00001
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=)
|
rs776992904
|
0.00001
|
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)
|
rs80359045
|
0.00001
|
NM_000059.4(BRCA2):c.8086T>C (p.Leu2696=)
|
rs767912817
|
0.00001
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
NM_000059.4(BRCA2):c.8118T>C (p.Asn2706=)
|
rs758549180
|
0.00001
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=)
|
rs587780662
|
0.00001
|
NM_000059.4(BRCA2):c.8298A>G (p.Thr2766=)
|
rs730881594
|
0.00001
|
NM_000059.4(BRCA2):c.8331+14C>T
|
rs1287378096
|
0.00001
|
NM_000059.4(BRCA2):c.8332-6G>T
|
rs587780872
|
0.00001
|
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=)
|
rs747664806
|
0.00001
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu)
|
rs587782785
|
0.00001
|
NM_000059.4(BRCA2):c.8488-19G>A
|
rs398122607
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)
|
rs80359109
|
0.00001
|
NM_000059.4(BRCA2):c.8632+14T>C
|
rs730881596
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)
|
rs80359804
|
0.00001
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
NM_000059.4(BRCA2):c.9257-18C>A
|
rs81002807
|
0.00001
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)
|
rs28897760
|
0.00001
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
NM_000059.4(BRCA2):c.9837A>G (p.Leu3279=)
|
rs730881598
|
0.00001
|
NM_000059.4(BRCA2):c.987G>A (p.Arg329=)
|
rs561002197
|
0.00001
|
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)
|
rs190152688
|
0.00001
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
NM_000075.4(CDK4):c.777G>A (p.Ser259=)
|
rs3211622
|
0.00001
|
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
|
rs779169597
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)
|
rs918420911
|
0.00001
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
NM_000090.4(COL3A1):c.745-7T>C
|
rs776306752
|
0.00001
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
NM_000093.5(COL5A1):c.2845-8G>A
|
rs775063630
|
0.00001
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
|
rs774540354
|
0.00001
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)
|
rs146170505
|
0.00001
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)
|
rs201046790
|
0.00001
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
NM_000128.4(F11):c.1103G>C (p.Gly368Ala)
|
rs748926718
|
0.00001
|
NM_000128.4(F11):c.1546G>A (p.Val516Met)
|
rs200622588
|
0.00001
|
NM_000128.4(F11):c.365G>A (p.Gly122Asp)
|
rs369650561
|
0.00001
|
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)
|
rs137852473
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=)
|
rs1261752884
|
0.00001
|
NM_000138.5(FBN1):c.6038-8T>A
|
rs569460847
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
NM_000146.4(FTL):c.1A>G (p.Met1Val)
|
rs139732572
|
0.00001
|
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)
|
rs1057517008
|
0.00001
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)
|
rs748573754
|
0.00001
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
NM_000155.4(GALT):c.593T>C (p.Ile198Thr)
|
rs1483461355
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
|
rs79653797
|
0.00001
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)
|
rs778153326
|
0.00001
|
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)
|
rs898043081
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)
|
rs749452002
|
0.00001
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.605T>C (p.Met202Thr)
|
rs193922311
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000169.3(GLA):c.801+14C>T
|
rs200744672
|
0.00001
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00001
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)
|
rs772574530
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000178.4(GSS):c.709C>T (p.Arg237Ter)
|
rs201925123
|
0.00001
|
NM_000179.3(MSH6):c.1132A>C (p.Arg378=)
|
rs781572949
|
0.00001
|
NM_000179.3(MSH6):c.1176T>C (p.Asp392=)
|
rs587779912
|
0.00001
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
NM_000179.3(MSH6):c.1740G>A (p.Ser580=)
|
rs762089407
|
0.00001
|
NM_000179.3(MSH6):c.1776A>T (p.Val592=)
|
rs56132616
|
0.00001
|
NM_000179.3(MSH6):c.2400T>C (p.Val800=)
|
rs267608071
|
0.00001
|
NM_000179.3(MSH6):c.260+7G>A
|
rs774479750
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln)
|
rs752839086
|
0.00001
|
NM_000179.3(MSH6):c.2940A>G (p.Glu980=)
|
rs730881818
|
0.00001
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
NM_000179.3(MSH6):c.457+7G>C
|
rs781280171
|
0.00001
|
NM_000179.3(MSH6):c.81C>G (p.Ala27=)
|
rs781496151
|
0.00001
|
NM_000179.3(MSH6):c.846G>C (p.Val282=)
|
rs573638836
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000182.5(HADHA):c.67+17G>C
|
rs574255291
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)
|
rs1023807527
|
0.00001
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)
|
rs552292698
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=)
|
rs138551008
|
0.00001
|
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=)
|
rs886039093
|
0.00001
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)
|
rs121912482
|
0.00001
|
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
NM_000237.3(LPL):c.590G>A (p.Arg197His)
|
rs372668179
|
0.00001
|
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)
|
rs766379103
|
0.00001
|
NM_000238.4(KCNH2):c.1946-8G>A
|
rs1384850938
|
0.00001
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
NM_000249.4(MLH1):c.116+8G>A
|
rs904872305
|
0.00001
|
NM_000249.4(MLH1):c.1191G>A (p.Leu397=)
|
rs35164771
|
0.00001
|
NM_000249.4(MLH1):c.1452T>C (p.Asp484=)
|
rs587778916
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.1558+10C>T
|
rs765913871
|
0.00001
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
NM_000249.4(MLH1):c.24T>A (p.Ile8=)
|
rs748406142
|
0.00001
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
NM_000249.4(MLH1):c.30G>T (p.Arg10=)
|
rs876660759
|
0.00001
|
NM_000249.4(MLH1):c.762G>A (p.Lys254=)
|
rs863224341
|
0.00001
|
NM_000249.4(MLH1):c.969G>C (p.Leu323=)
|
rs1553648063
|
0.00001
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
NM_000251.3(MSH2):c.1076+12G>C
|
rs755616171
|
0.00001
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
NM_000251.3(MSH2):c.115C>A (p.Arg39=)
|
rs786202334
|
0.00001
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
NM_000251.3(MSH2):c.1311G>T (p.Val437=)
|
rs730881781
|
0.00001
|
NM_000251.3(MSH2):c.1760-7T>C
|
rs972129356
|
0.00001
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
NM_000251.3(MSH2):c.2211-7G>A
|
rs764972956
|
0.00001
|
NM_000251.3(MSH2):c.2458+4T>C
|
rs1038735071
|
0.00001
|
NM_000251.3(MSH2):c.366+4A>C
|
rs876659880
|
0.00001
|
NM_000251.3(MSH2):c.459C>T (p.Ser153=)
|
rs63751065
|
0.00001
|
NM_000251.3(MSH2):c.639G>A (p.Leu213=)
|
rs751250018
|
0.00001
|
NM_000251.3(MSH2):c.645+3A>G
|
rs587779168
|
0.00001
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
NM_000251.3(MSH2):c.942+5A>G
|
rs769242733
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
NM_000257.4(MYH7):c.3402G>A (p.Lys1134=)
|
rs587781083
|
0.00001
|
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)
|
rs546586969
|
0.00001
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)
|
rs397516202
|
0.00001
|
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=)
|
rs151113658
|
0.00001
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
|
rs535102352
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)
|
rs386833598
|
0.00001
|
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)
|
rs121965051
|
0.00001
|
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)
|
rs147816326
|
0.00001
|
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe)
|
rs748692597
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
|
rs118203925
|
0.00001
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.716G>T (p.Gly239Val)
|
rs62507283
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro)
|
rs774457925
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter)
|
rs145166656
|
0.00001
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)
|
rs137854541
|
0.00001
|
NM_000314.8(PTEN):c.321T>C (p.Asp107=)
|
rs372876243
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000318.3(PEX2):c.782A>G (p.His261Arg)
|
rs749956542
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000330.4(RS1):c.554C>T (p.Thr185Met)
|
rs61753173
|
0.00001
|
NM_000335.5(SCN5A):c.1050C>T (p.His350=)
|
rs587781160
|
0.00001
|
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)
|
rs199473565
|
0.00001
|
NM_000335.5(SCN5A):c.1338+18C>T
|
rs761031894
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys)
|
rs794728864
|
0.00001
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.3909G>A (p.Thr1303=)
|
rs764462471
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)
|
rs397517957
|
0.00001
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
NM_000335.5(SCN5A):c.703+11G>A
|
rs779138392
|
0.00001
|
NM_000337.6(SGCD):c.193-12G>T
|
rs727503421
|
0.00001
|
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln)
|
rs761380652
|
0.00001
|
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln)
|
rs752000268
|
0.00001
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
0.00001
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)
|
rs776100468
|
0.00001
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)
|
rs202037016
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
NM_000363.5(TNNI3):c.34C>T (p.Pro12Ser)
|
rs553214254
|
0.00001
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.651A>G (p.Glu217=)
|
rs766250769
|
0.00001
|
NM_000369.5(TSHR):c.692+3G>A
|
rs552128204
|
0.00001
|
NM_000371.4(TTR):c.69G>A (p.Thr23=)
|
rs752579437
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
|
rs72547575
|
0.00001
|
NM_000383.4(AIRE):c.463+2T>C
|
rs786204478
|
0.00001
|
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
|
rs193922418
|
0.00001
|
NM_000391.4(TPP1):c.1076-17C>T
|
rs1258440716
|
0.00001
|
NM_000393.5(COL5A2):c.1563+5A>G
|
rs777118100
|
0.00001
|
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)
|
rs371277428
|
0.00001
|
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg)
|
rs750609110
|
0.00001
|
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)
|
rs121913023
|
0.00001
|
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)
|
rs28934886
|
0.00001
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
NM_000429.3(MAT1A):c.595C>T (p.Arg199Cys)
|
rs773267230
|
0.00001
|
NM_000434.4(NEU1):c.869G>A (p.Arg290Gln)
|
rs758877243
|
0.00001
|
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly)
|
rs1057520369
|
0.00001
|
NM_000441.2(SLC26A4):c.397T>C (p.Ser133Pro)
|
rs121908365
|
0.00001
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_000441.2(SLC26A4):c.921G>A (p.Thr307=)
|
rs765644650
|
0.00001
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val)
|
rs1554944856
|
0.00001
|
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)
|
rs768860215
|
0.00001
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
NM_000455.5(STK11):c.-1C>T
|
rs759284466
|
0.00001
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
NM_000455.5(STK11):c.1109-4C>T
|
rs1407794756
|
0.00001
|
NM_000455.5(STK11):c.1128G>A (p.Glu376=)
|
rs747018506
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000455.5(STK11):c.594C>T (p.Ala198=)
|
rs772940660
|
0.00001
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
NM_000455.5(STK11):c.765C>T (p.Phe255=)
|
rs769912677
|
0.00001
|
NM_000455.5(STK11):c.921-9C>T
|
rs761688641
|
0.00001
|
NM_000455.5(STK11):c.972G>A (p.Pro324=)
|
rs553474397
|
0.00001
|
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val)
|
rs1283652721
|
0.00001
|
NM_000465.4(BARD1):c.2253G>T (p.Arg751=)
|
rs750001065
|
0.00001
|
NM_000465.4(BARD1):c.882G>A (p.Arg294=)
|
rs778855056
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)
|
rs1382219911
|
0.00001
|
NM_000478.6(ALPL):c.1182dup (p.Ile395fs)
|
rs754826836
|
0.00001
|
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)
|
rs772682471
|
0.00001
|
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp)
|
rs1400042777
|
0.00001
|
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)
|
rs770093969
|
0.00001
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
NM_000478.6(ALPL):c.1444C>A (p.His482Asn)
|
rs780857373
|
0.00001
|
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val)
|
rs886044912
|
0.00001
|
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)
|
rs1413274209
|
0.00001
|
NM_000478.6(ALPL):c.530C>T (p.Ala177Val)
|
rs1114167438
|
0.00001
|
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)
|
rs121918000
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)
|
rs786204634
|
0.00001
|
NM_000478.6(ALPL):c.997+1G>T
|
rs1292415045
|
0.00001
|
NM_000478.6(ALPL):c.997+2T>A
|
rs1057517391
|
0.00001
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000486.6(AQP2):c.375G>A (p.Thr125=)
|
rs772192893
|
0.00001
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)
|
rs74315480
|
0.00001
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
|
rs199476382
|
0.00001
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)
|
rs201978662
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2280G>A (p.Thr760=)
|
rs138634146
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)
|
rs886061952
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)
|
rs397508708
|
0.00001
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)
|
rs121908802
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)
|
rs41529844
|
0.00001
|
NM_000518.4(HBB):c.149C>T (p.Ser50Phe)
|
rs33960931
|
0.00001
|
NM_000518.4(HBB):c.23A>G (p.Glu8Gly)
|
rs34387455
|
0.00001
|
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)
|
rs33935383
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.4(HBB):c.430C>T (p.His144Tyr)
|
rs33929415
|
0.00001
|
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)
|
rs33935445
|
0.00001
|
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)
|
rs33936254
|
0.00001
|
NM_000518.5(HBB):c.*74A>G
|
rs369101035
|
0.00001
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
0.00001
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
NM_000518.5(HBB):c.122G>A (p.Arg41Lys)
|
rs34831026
|
0.00001
|
NM_000518.5(HBB):c.217dup (p.Ser73fs)
|
rs33969853
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
NM_000518.5(HBB):c.316-102C>A
|
rs1468940510
|
0.00001
|
NM_000518.5(HBB):c.316-114C>A
|
rs1003790835
|
0.00001
|
NM_000518.5(HBB):c.316-124A>T
|
rs1184042209
|
0.00001
|
NM_000518.5(HBB):c.316-130T>C
|
rs956857115
|
0.00001
|
NM_000518.5(HBB):c.316-138G>A
|
rs1444028845
|
0.00001
|
NM_000518.5(HBB):c.316-145G>A
|
rs1005042281
|
0.00001
|
NM_000518.5(HBB):c.316-99T>G
|
rs1232651664
|
0.00001
|
NM_000518.5(HBB):c.341T>A (p.Val114Glu)
|
rs34484056
|
0.00001
|
NM_000518.5(HBB):c.353A>G (p.His118Arg)
|
rs33935673
|
0.00001
|
NM_000518.5(HBB):c.380T>C (p.Val127Ala)
|
rs33925391
|
0.00001
|
NM_000518.5(HBB):c.45G>A (p.Leu15=)
|
rs762782573
|
0.00001
|
NM_000518.5(HBB):c.93-15T>C
|
rs35456885
|
0.00001
|
NM_000518.5(HBB):c.93-24A>G
|
rs773687221
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)
|
rs1555475519
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000521.4(HEXB):c.1165dup (p.Gln389fs)
|
rs1749680051
|
0.00001
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1060+18C>A
|
rs780579614
|
0.00001
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
NM_000527.5(LDLR):c.1186+10G>C
|
rs781336025
|
0.00001
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.783C>T (p.Cys261=)
|
rs1057519663
|
0.00001
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
|
rs72554356
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000535.7(PMS2):c.1167A>G (p.Ala389=)
|
rs748920792
|
0.00001
|
NM_000535.7(PMS2):c.1344A>T (p.Gly448=)
|
rs759192470
|
0.00001
|
NM_000535.7(PMS2):c.1368T>C (p.Ser456=)
|
rs587780723
|
0.00001
|
NM_000535.7(PMS2):c.1674C>T (p.Thr558=)
|
rs876658134
|
0.00001
|
NM_000535.7(PMS2):c.2175-9G>A
|
rs1057522324
|
0.00001
|
NM_000535.7(PMS2):c.2265C>T (p.Ile755=)
|
rs145646046
|
0.00001
|
NM_000535.7(PMS2):c.27A>C (p.Thr9=)
|
rs1060504842
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.353+3G>A
|
rs766373982
|
0.00001
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
0.00001
|
NM_000535.7(PMS2):c.630A>G (p.Lys210=)
|
rs765847615
|
0.00001
|
NM_000535.7(PMS2):c.711A>G (p.Gln237=)
|
rs368608818
|
0.00001
|
NM_000535.7(PMS2):c.795T>C (p.Asn265=)
|
rs766667186
|
0.00001
|
NM_000535.7(PMS2):c.804-15A>G
|
rs1448706115
|
0.00001
|
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)
|
rs193922573
|
0.00001
|
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln)
|
rs113332073
|
0.00001
|
NM_000540.3(RYR1):c.328C>T (p.His110Tyr)
|
rs767777113
|
0.00001
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00001
|
NM_000540.3(RYR1):c.6797-7C>T
|
rs994688451
|
0.00001
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=)
|
rs374058542
|
0.00001
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)
|
rs756416683
|
0.00001
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
NM_000545.8(HNF1A):c.955G>A (p.Gly319Ser)
|
rs137853240
|
0.00001
|
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)
|
rs375338359
|
0.00001
|
NM_000546.6(TP53):c.123T>C (p.Asp41=)
|
rs369129220
|
0.00001
|
NM_000546.6(TP53):c.145G>A (p.Asp49Asn)
|
rs587780728
|
0.00001
|
NM_000546.6(TP53):c.354A>T (p.Thr118=)
|
rs751978853
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.782+10C>T
|
rs200277687
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000546.6(TP53):c.885T>C (p.Pro295=)
|
rs200073907
|
0.00001
|
NM_000546.6(TP53):c.919+7A>C
|
rs199527475
|
0.00001
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
0.00001
|
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)
|
rs754945653
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000552.5(VWF):c.3108+5G>A
|
rs61748495
|
0.00001
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys)
|
rs367823977
|
0.00001
|
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=)
|
rs750843602
|
0.00001
|
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala)
|
rs1391136601
|
0.00001
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=)
|
rs561224137
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile)
|
rs72549323
|
0.00001
|
NM_001003800.2(BICD2):c.2258+6C>T
|
rs566572599
|
0.00001
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln)
|
rs755975980
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)
|
rs776690106
|
0.00001
|
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)
|
rs770792767
|
0.00001
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=)
|
rs543120030
|
0.00001
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)
|
rs193922625
|
0.00001
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
NM_001035.3(RYR2):c.463+10T>C
|
rs193922627
|
0.00001
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.888+5G>A
|
rs556444929
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.1206C>T (p.Pro402=)
|
rs752408891
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)
|
rs888691362
|
0.00001
|
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)
|
rs1553129892
|
0.00001
|
NM_001048174.2(MUTYH):c.288C>T (p.Asp96=)
|
rs730881836
|
0.00001
|
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln)
|
rs533899702
|
0.00001
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
NM_001085049.3(MRAS):c.348-17G>A
|
rs574806189
|
0.00001
|
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)
|
rs121909542
|
0.00001
|
NM_001100913.3(PACS2):c.1781-7C>T
|
rs1555412976
|
0.00001
|
NM_001100913.3(PACS2):c.2630A>G (p.Lys877Arg)
|
rs782685668
|
0.00001
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp)
|
rs782772998
|
0.00001
|
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)
|
rs1340029095
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr)
|
rs1331645027
|
0.00001
|
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)
|
rs756972061
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
NM_001148.6(ANK2):c.1783-4A>G
|
rs755543636
|
0.00001
|
NM_001148.6(ANK2):c.2364C>T (p.Asn788=)
|
rs769405364
|
0.00001
|
NM_001148.6(ANK2):c.5508C>T (p.Ser1836=)
|
rs766217545
|
0.00001
|
NM_001163435.3(TBCK):c.659-19T>C
|
rs1212469599
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+2dup
|
rs1459811938
|
0.00001
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)
|
rs943777958
|
0.00001
|
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala)
|
rs752582515
|
0.00001
|
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=)
|
rs377340289
|
0.00001
|
NM_001267550.2(TTN):c.16790C>T (p.Ser5597Phe)
|
rs754116386
|
0.00001
|
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=)
|
rs748617936
|
0.00001
|
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)
|
rs537966944
|
0.00001
|
NM_001267550.2(TTN):c.1920G>A (p.Val640=)
|
rs1361872004
|
0.00001
|
NM_001267550.2(TTN):c.2766C>T (p.Arg922=)
|
rs372617952
|
0.00001
|
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr)
|
rs369108107
|
0.00001
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)
|
rs370978752
|
0.00001
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)
|
rs777904054
|
0.00001
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn)
|
rs536645864
|
0.00001
|
NM_001267550.2(TTN):c.64283T>C (p.Val21428Ala)
|
rs1576014979
|
0.00001
|
NM_001267550.2(TTN):c.6791-11A>G
|
rs368202177
|
0.00001
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
NM_001267550.2(TTN):c.68825-7T>A
|
rs767881914
|
0.00001
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His)
|
rs140018785
|
0.00001
|
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)
|
rs189187431
|
0.00001
|
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val)
|
rs760786665
|
0.00001
|
NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser)
|
rs566764105
|
0.00001
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)
|
rs369855092
|
0.00001
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
NM_001267550.2(TTN):c.9802C>T (p.Pro3268Ser)
|
rs912372716
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His)
|
rs761839551
|
0.00001
|
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp)
|
rs770961534
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001354689.3(RAF1):c.1200C>T (p.Val400=)
|
rs397516814
|
0.00001
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)
|
rs1046560765
|
0.00001
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)
|
rs1478872904
|
0.00001
|
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)
|
rs104886039
|
0.00001
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)
|
rs779896782
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001365999.1(SZT2):c.8151+11C>T
|
rs78750047
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)
|
rs137853030
|
0.00001
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
0.00001
|
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)
|
rs747504060
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser)
|
rs780673487
|
0.00001
|
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln)
|
rs371238926
|
0.00001
|
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu)
|
rs369163833
|
0.00001
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.3374-7C>T
|
rs377480411
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001384732.1(CPLANE1):c.7588+7A>G
|
rs773662834
|
0.00001
|
NM_001384732.1(CPLANE1):c.9310+6A>T
|
rs1347208910
|
0.00001
|
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)
|
rs137852965
|
0.00001
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
NM_001386795.1(DTNA):c.68-5A>G
|
rs1243110074
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)
|
rs398122974
|
0.00001
|
NM_001845.6(COL4A1):c.1990+7T>C
|
rs773725275
|
0.00001
|
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)
|
rs754203636
|
0.00001
|
NM_001853.4(COL9A3):c.1054-12C>T
|
rs1462378174
|
0.00001
|
NM_001854.4(COL11A1):c.4609-8C>A
|
rs777390779
|
0.00001
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
NM_001999.4(FBN2):c.522T>C (p.Tyr174=)
|
rs573915338
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)
|
rs398123680
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002230.4(JUP):c.1815C>T (p.Ala605=)
|
rs543862977
|
0.00001
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
NM_002471.4(MYH6):c.3909G>C (p.Leu1303=)
|
rs572682388
|
0.00001
|
NM_002471.4(MYH6):c.643-3T>C
|
rs113552091
|
0.00001
|
NM_002473.6(MYH9):c.5766-5C>T
|
rs746967490
|
0.00001
|
NM_002474.3(MYH11):c.1576-4A>G
|
rs189193825
|
0.00001
|
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp)
|
rs886038932
|
0.00001
|
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys)
|
rs141184241
|
0.00001
|
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile)
|
rs780870767
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)
|
rs529340553
|
0.00001
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
NM_002485.5(NBN):c.1890A>C (p.Ser630=)
|
rs587780778
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.2196A>G (p.Gln732=)
|
rs587780780
|
0.00001
|
NM_002485.5(NBN):c.2247T>C (p.Tyr749=)
|
rs762740478
|
0.00001
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.584+9T>C
|
rs746913991
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
NM_002524.5(NRAS):c.159G>A (p.Leu53=)
|
rs114668710
|
0.00001
|
NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser)
|
rs763122825
|
0.00001
|
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)
|
rs759637817
|
0.00001
|
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)
|
rs752444746
|
0.00001
|
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)
|
rs141801845
|
0.00001
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
NM_002693.3(POLG):c.425T>C (p.Leu142Pro)
|
rs1064797202
|
0.00001
|
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met)
|
rs199801675
|
0.00001
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
NM_002834.5(PTPN11):c.951G>A (p.Lys317=)
|
rs576405446
|
0.00001
|
NM_002834.5(PTPN11):c.996C>T (p.Gly332=)
|
rs397507533
|
0.00001
|
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
|
rs749922511
|
0.00001
|
NM_002878.4(RAD51D):c.22C>T (p.Leu8=)
|
rs876659203
|
0.00001
|
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser)
|
rs774198365
|
0.00001
|
NM_002880.4(RAF1):c.321T>C (p.Gly107=)
|
rs201937982
|
0.00001
|
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn)
|
rs368796800
|
0.00001
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
NM_002880.4(RAF1):c.907A>G (p.Thr303Ala)
|
rs775898894
|
0.00001
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)
|
rs761533681
|
0.00001
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
0.00001
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)
|
rs1408166345
|
0.00001
|
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)
|
rs749282641
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)
|
rs72552727
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)
|
rs386134198
|
0.00001
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
0.00001
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)
|
rs1187982748
|
0.00001
|
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=)
|
rs764720370
|
0.00001
|
NM_003242.6(TGFBR2):c.1525-6C>G
|
rs748388518
|
0.00001
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser)
|
rs1231823028
|
0.00001
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00001
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)
|
rs201657455
|
0.00001
|
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)
|
rs752043324
|
0.00001
|
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)
|
rs545593935
|
0.00001
|
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)
|
rs386833806
|
0.00001
|
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)
|
rs535635403
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
rs104894403
|
0.00001
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)
|
rs1131691709
|
0.00001
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
0.00001
|
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg)
|
rs773782786
|
0.00001
|
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)
|
rs140791274
|
0.00001
|
NM_004006.3(DMD):c.7873-6C>A
|
rs764629897
|
0.00001
|
NM_004171.4(SLC1A2):c.1422-6C>G
|
rs1453510369
|
0.00001
|
NM_004329.3(BMPR1A):c.-6T>C
|
rs1047677696
|
0.00001
|
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)
|
rs1060503407
|
0.00001
|
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=)
|
rs758796892
|
0.00001
|
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=)
|
rs587782682
|
0.00001
|
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr)
|
rs587780783
|
0.00001
|
NM_004333.6(BRAF):c.1027C>T (p.Pro343Ser)
|
rs758935249
|
0.00001
|
NM_004333.6(BRAF):c.193T>C (p.Leu65=)
|
rs866875749
|
0.00001
|
NM_004333.6(BRAF):c.951C>A (p.Ser317=)
|
rs755298519
|
0.00001
|
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln)
|
rs763410987
|
0.00001
|
NM_004360.5(CDH1):c.1132A>C (p.Thr378Pro)
|
rs587781432
|
0.00001
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
NM_004360.5(CDH1):c.1566-7C>T
|
rs747783435
|
0.00001
|
NM_004360.5(CDH1):c.2053G>A (p.Val685Met)
|
rs550612843
|
0.00001
|
NM_004360.5(CDH1):c.2091G>A (p.Lys697=)
|
rs61747635
|
0.00001
|
NM_004360.5(CDH1):c.2164+3A>G
|
rs750651204
|
0.00001
|
NM_004360.5(CDH1):c.2322G>A (p.Arg774=)
|
rs150734856
|
0.00001
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_004360.5(CDH1):c.387+6T>C
|
rs764434962
|
0.00001
|
NM_004360.5(CDH1):c.49-8C>A
|
rs774761552
|
0.00001
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
0.00001
|
NM_004360.5(CDH1):c.570C>T (p.Tyr190=)
|
rs761753486
|
0.00001
|
NM_004360.5(CDH1):c.604G>A (p.Val202Ile)
|
rs546716073
|
0.00001
|
NM_004360.5(CDH1):c.879G>A (p.Val293=)
|
rs778959722
|
0.00001
|
NM_004415.4(DSP):c.1575-16C>G
|
rs756806835
|
0.00001
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)
|
rs776428695
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_004519.4(KCNQ3):c.1800-12G>A
|
rs761923188
|
0.00001
|
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val)
|
rs387906872
|
0.00001
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
NM_004614.5(TK2):c.588A>T (p.Arg196Ser)
|
rs752949191
|
0.00001
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)
|
rs386833883
|
0.00001
|
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)
|
rs386833899
|
0.00001
|
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)
|
rs267606918
|
0.00001
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)
|
rs386833932
|
0.00001
|
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)
|
rs386833951
|
0.00001
|
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys)
|
rs753476209
|
0.00001
|
NM_004655.4(AXIN2):c.2405+7G>A
|
rs373593841
|
0.00001
|
NM_004655.4(AXIN2):c.2499C>A (p.Gly833=)
|
rs772461187
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)
|
rs121908610
|
0.00001
|
NM_004937.3(CTNS):c.612C>T (p.Asn204=)
|
rs200170842
|
0.00001
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile)
|
rs1407509439
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)
|
rs770344400
|
0.00001
|
NM_005159.5(ACTC1):c.129+19_129+20insT
|
rs386134228
|
0.00001
|
NM_005159.5(ACTC1):c.617-7T>C
|
rs750536667
|
0.00001
|
NM_005343.4(HRAS):c.378A>G (p.Glu126=)
|
rs397517140
|
0.00001
|
NM_005343.4(HRAS):c.510G>A (p.Lys170=)
|
rs397517143
|
0.00001
|
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)
|
rs765597059
|
0.00001
|
NM_005359.6(SMAD4):c.960T>C (p.Pro320=)
|
rs1568208159
|
0.00001
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=)
|
rs1250688041
|
0.00001
|
NM_005559.4(LAMA1):c.7051-9T>A
|
rs1472738373
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys)
|
rs730881031
|
0.00001
|
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn)
|
rs891035934
|
0.00001
|
NM_005633.4(SOS1):c.3093T>C (p.Tyr1031=)
|
rs766864647
|
0.00001
|
NM_005633.4(SOS1):c.3391+3T>C
|
rs761579423
|
0.00001
|
NM_005633.4(SOS1):c.350T>G (p.Val117Gly)
|
rs201085754
|
0.00001
|
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=)
|
rs200485215
|
0.00001
|
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg)
|
rs373817937
|
0.00001
|
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val)
|
rs193922723
|
0.00001
|
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser)
|
rs767966419
|
0.00001
|
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln)
|
rs752685614
|
0.00001
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)
|
rs763539350
|
0.00001
|
NM_006070.6(TFG):c.317G>A (p.Arg106His)
|
rs376971794
|
0.00001
|
NM_006231.4(POLE):c.4245C>T (p.Asn1415=)
|
rs778896278
|
0.00001
|
NM_006231.4(POLE):c.4445-7T>C
|
rs754001064
|
0.00001
|
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys)
|
rs542430685
|
0.00001
|
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln)
|
rs762965148
|
0.00001
|
NM_006231.4(POLE):c.5678+1G>A
|
rs138748289
|
0.00001
|
NM_006231.4(POLE):c.84A>T (p.Ser28=)
|
rs774280853
|
0.00001
|
NM_006295.3(VARS1):c.3622C>T (p.Arg1208Ter)
|
rs776596987
|
0.00001
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
NM_006393.3(NEBL):c.2913C>T (p.Asp971=)
|
rs575423101
|
0.00001
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006506.5(RASA2):c.133+10G>A
|
rs775544477
|
0.00001
|
NM_006506.5(RASA2):c.2329+7A>G
|
rs1444704196
|
0.00001
|
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln)
|
rs1367238054
|
0.00001
|
NM_006767.4(LZTR1):c.1260+11T>A
|
rs1298556569
|
0.00001
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006767.4(LZTR1):c.482del (p.Gln161fs)
|
rs1924462309
|
0.00001
|
NM_006767.4(LZTR1):c.522T>G (p.Ala174=)
|
rs745514794
|
0.00001
|
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter)
|
rs749437251
|
0.00001
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
NM_007078.3(LDB3):c.2091C>T (p.Cys697=)
|
rs571356142
|
0.00001
|
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)
|
rs774886148
|
0.00001
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
NM_007194.4(CHEK2):c.908+10A>G
|
rs774973319
|
0.00001
|
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)
|
rs796052850
|
0.00001
|
NM_007294.4(BRCA1):c.1026G>A (p.Leu342=)
|
rs1171571879
|
0.00001
|
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)
|
rs80356946
|
0.00001
|
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)
|
rs56056711
|
0.00001
|
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr)
|
rs80357488
|
0.00001
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)
|
rs80356863
|
0.00001
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)
|
rs80356859
|
0.00001
|
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)
|
rs1800064
|
0.00001
|
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)
|
rs80357344
|
0.00001
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu)
|
rs80356912
|
0.00001
|
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)
|
rs80356884
|
0.00001
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr)
|
rs80357144
|
0.00001
|
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)
|
rs876659731
|
0.00001
|
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=)
|
rs556684572
|
0.00001
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
NM_007294.4(BRCA1):c.2860C>T (p.Leu954=)
|
rs730881452
|
0.00001
|
NM_007294.4(BRCA1):c.302-11G>A
|
rs1057521776
|
0.00001
|
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
|
rs80357311
|
0.00001
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)
|
rs80357272
|
0.00001
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)
|
rs587782458
|
0.00001
|
NM_007294.4(BRCA1):c.3601G>A (p.Gly1201Ser)
|
rs55725337
|
0.00001
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp)
|
rs145903082
|
0.00001
|
NM_007294.4(BRCA1):c.378A>G (p.Gln126=)
|
rs786201256
|
0.00001
|
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr)
|
rs80357160
|
0.00001
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn)
|
rs1057519496
|
0.00001
|
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)
|
rs80357500
|
0.00001
|
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
|
rs55639854
|
0.00001
|
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)
|
rs758515222
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
NM_007294.4(BRCA1):c.4097-20C>T
|
rs80358169
|
0.00001
|
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)
|
rs55848034
|
0.00001
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile)
|
rs397507226
|
0.00001
|
NM_007294.4(BRCA1):c.4185+9C>T
|
rs80358034
|
0.00001
|
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)
|
rs80357365
|
0.00001
|
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=)
|
rs786201224
|
0.00001
|
NM_007294.4(BRCA1):c.420T>C (p.Ser140=)
|
rs730881448
|
0.00001
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
NM_007294.4(BRCA1):c.4357+14G>T
|
rs760989937
|
0.00001
|
NM_007294.4(BRCA1):c.4485-10A>G
|
rs863224420
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)
|
rs80357470
|
0.00001
|
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro)
|
rs80357275
|
0.00001
|
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)
|
rs80357095
|
0.00001
|
NM_007294.4(BRCA1):c.4635C>T (p.His1545=)
|
rs373686790
|
0.00001
|
NM_007294.4(BRCA1):c.4675+20A>G
|
rs780870669
|
0.00001
|
NM_007294.4(BRCA1):c.4676-16C>G
|
rs80358067
|
0.00001
|
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys)
|
rs80357002
|
0.00001
|
NM_007294.4(BRCA1):c.4767T>G (p.Arg1589=)
|
rs587780864
|
0.00001
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
NM_007294.4(BRCA1):c.4914A>G (p.Glu1638=)
|
rs786201216
|
0.00001
|
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser)
|
rs28897695
|
0.00001
|
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)
|
rs786203868
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5075-18G>A
|
rs1060504564
|
0.00001
|
NM_007294.4(BRCA1):c.5075-9A>T
|
rs80358059
|
0.00001
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5124G>A (p.Ala1708=)
|
rs1057520432
|
0.00001
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
NM_007294.4(BRCA1):c.5153-3T>C
|
rs375639469
|
0.00001
|
NM_007294.4(BRCA1):c.5194-16G>A
|
rs368058346
|
0.00001
|
NM_007294.4(BRCA1):c.5332+7G>T
|
rs773655919
|
0.00001
|
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)
|
rs80357041
|
0.00001
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)
|
rs730881456
|
0.00001
|
NM_007294.4(BRCA1):c.543A>G (p.Glu181=)
|
rs397507250
|
0.00001
|
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)
|
rs80357286
|
0.00001
|
NM_007294.4(BRCA1):c.5467+2T>C
|
rs80358009
|
0.00001
|
NM_007294.4(BRCA1):c.547+8T>G
|
rs762224894
|
0.00001
|
NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=)
|
rs786201502
|
0.00001
|
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)
|
rs768065826
|
0.00001
|
NM_007294.4(BRCA1):c.671-15T>A
|
rs80358058
|
0.00001
|
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)
|
rs80357396
|
0.00001
|
NM_007294.4(BRCA1):c.768G>A (p.Arg256=)
|
rs746067447
|
0.00001
|
NM_007294.4(BRCA1):c.81-17C>G
|
rs757442952
|
0.00001
|
NM_007294.4(BRCA1):c.837T>C (p.His279=)
|
rs775477245
|
0.00001
|
NM_007294.4(BRCA1):c.93C>G (p.Ile31Met)
|
rs80357000
|
0.00001
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_007294.4(BRCA1):c.996G>T (p.Arg332=)
|
rs80356836
|
0.00001
|
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu)
|
rs1025884753
|
0.00001
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
NM_014000.3(VCL):c.874+13T>C
|
rs777617736
|
0.00001
|
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)
|
rs762521317
|
0.00001
|
NM_014225.6(PPP2R1A):c.78+7A>C
|
rs1240197556
|
0.00001
|
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)
|
rs398122839
|
0.00001
|
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)
|
rs368778231
|
0.00001
|
NM_014297.5(ETHE1):c.505+1G>A
|
rs935855792
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu)
|
rs1364796862
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
NM_014625.4(NPHS2):c.873+2T>A
|
rs967339926
|
0.00001
|
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
|
rs1057518064
|
0.00001
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)
|
rs387907106
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)
|
rs80358245
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_015909.4(NBAS):c.6124A>G (p.Met2042Val)
|
rs745940158
|
0.00001
|
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln)
|
rs760980785
|
0.00001
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
NM_016599.5(MYOZ2):c.75T>C (p.Asn25=)
|
rs201476980
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_018006.5(TRMU):c.2T>G (p.Met1Arg)
|
rs118203992
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
NM_018129.4(PNPO):c.284G>A (p.Arg95His)
|
rs552833222
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)
|
rs201791209
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg)
|
rs748354081
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys)
|
rs1024279229
|
0.00001
|
NM_019892.6(INPP5E):c.907G>A (p.Val303Met)
|
rs746212325
|
0.00001
|
NM_020297.4(ABCC9):c.1050C>T (p.Asn350=)
|
rs143373045
|
0.00001
|
NM_020297.4(ABCC9):c.1770G>A (p.Thr590=)
|
rs746239063
|
0.00001
|
NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=)
|
rs777591544
|
0.00001
|
NM_020320.5(RARS2):c.1650+5G>A
|
rs750433723
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
0.00001
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)
|
rs121908374
|
0.00001
|
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)
|
rs767122713
|
0.00001
|
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)
|
rs121908371
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)
|
rs193922704
|
0.00001
|
NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter)
|
rs1428157543
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)
|
rs267606682
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022437.3(ABCG8):c.1212-10G>C
|
rs765938367
|
0.00001
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)
|
rs387907039
|
0.00001
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys)
|
rs11551664
|
0.00001
|
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)
|
rs552179138
|
0.00001
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
NM_024422.6(DSC2):c.2104T>C (p.Leu702=)
|
rs753742489
|
0.00001
|
NM_024422.6(DSC2):c.2379C>A (p.Thr793=)
|
rs773813155
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
|
rs749063028
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)
|
rs190489275
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.1941T>C (p.His647=)
|
rs745467835
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu)
|
rs199743500
|
0.00001
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
NM_024675.4(PALB2):c.2673C>T (p.Cys891=)
|
rs78179744
|
0.00001
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
NM_024675.4(PALB2):c.2881C>T (p.Leu961=)
|
rs61755166
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg)
|
rs757416132
|
0.00001
|
NM_024884.3(L2HGDH):c.256+1G>A
|
rs150299874
|
0.00001
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His)
|
rs541053205
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg)
|
rs775380022
|
0.00001
|
NM_030662.4(MAP2K2):c.529-5T>C
|
rs766943752
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.225C>T (p.Gly75=)
|
rs186802750
|
0.00001
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)
|
rs900228710
|
0.00001
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu)
|
rs766790920
|
0.00001
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00001
|
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)
|
rs121908316
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala)
|
rs1252928330
|
0.00001
|
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr)
|
rs145191000
|
0.00001
|
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln)
|
rs757766496
|
0.00001
|
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=)
|
rs756699701
|
0.00001
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu)
|
rs746579947
|
0.00001
|
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser)
|
rs747400412
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=)
|
rs140033417
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro)
|
rs776157924
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln)
|
rs138594808
|
0.00001
|
NM_139242.4(MTFMT):c.434T>G (p.Val145Gly)
|
rs1064793194
|
0.00001
|
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe)
|
rs769031989
|
0.00001
|
NM_144670.6(A2ML1):c.1248+7A>G
|
rs765019682
|
0.00001
|
NM_144670.6(A2ML1):c.1538-13T>A
|
rs765050311
|
0.00001
|
NM_144670.6(A2ML1):c.1683+6A>G
|
rs370846070
|
0.00001
|
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=)
|
rs188045880
|
0.00001
|
NM_144670.6(A2ML1):c.2712+12T>A
|
rs774960083
|
0.00001
|
NM_144670.6(A2ML1):c.3264+5G>A
|
rs200006435
|
0.00001
|
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met)
|
rs868320081
|
0.00001
|
NM_144670.6(A2ML1):c.3933+14C>T
|
rs200874703
|
0.00001
|
NM_144670.6(A2ML1):c.4221+17C>T
|
rs772852256
|
0.00001
|
NM_144670.6(A2ML1):c.483+6C>T
|
rs754169968
|
0.00001
|
NM_144670.6(A2ML1):c.970+13C>T
|
rs748203389
|
0.00001
|
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn)
|
rs751780827
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
NM_152906.7(TANGO2):c.711-11C>G
|
rs201850506
|
0.00001
|
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn)
|
rs781220804
|
0.00001
|
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val)
|
rs587778510
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_172351.3(CD46):c.287-2A>G
|
rs759813089
|
0.00001
|
NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys)
|
rs778915456
|
0.00001
|
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn)
|
rs538983393
|
0.00001
|
NM_174936.4(PCSK9):c.1560C>T (p.Val520=)
|
rs542863545
|
0.00001
|
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)
|
rs1290868034
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)
|
rs137852854
|
0.00001
|
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg)
|
rs755799430
|
0.00001
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys)
|
rs772729658
|
0.00001
|
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro)
|
rs1554313639
|
0.00001
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_203290.4(POLR1C):c.922+2T>C
|
rs778556895
|
0.00001
|
NM_203447.4(DOCK8):c.3079G>A (p.Val1027Ile)
|
rs199782622
|
0.00001
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys)
|
rs755358293
|
0.00001
|
NM_213653.4(HJV):c.976C>T (p.Arg326Ter)
|
rs74315324
|
0.00001
|
NR_003051.4(RMRP):n.195G>A
|
rs761398394
|
0.00001
|
MSH6:c.3647-51_3647-35del17
|
rs267607687
|
|
MYH11:c.503-14_503-12del
|
rs141564071
|
|
NC_000018.9:g.77748581_77748614del34
|
rs535089924
|
|
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)
|
rs1323513432
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
|
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)
|
rs2071395559
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)
|
rs398123090
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)
|
rs761204548
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)
|
rs180177271
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000038.6(APC):c.2031C>T (p.Val677=)
|
rs769363082
|
|
NM_000038.6(APC):c.221-5T>C
|
rs1057524155
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000038.6(APC):c.420G>C (p.Glu140Asp)
|
rs202161017
|
|
NM_000038.6(APC):c.4212C>T (p.Ser1404=)
|
rs144655979
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
NM_000038.6(APC):c.5250C>T (p.Val1750=)
|
rs2229997
|
|
NM_000038.6(APC):c.5268T>A (p.Ser1756=)
|
rs866006
|
|
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)
|
rs764203580
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)
|
rs587778029
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
NM_000038.6(APC):c.7696A>C (p.Arg2566=)
|
rs1060504883
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)
|
rs532489785
|
|
NM_000039.3(APOA1):c.564C>G (p.Ala188=)
|
rs558064576
|
|
NM_000040.3(APOC3):c.56-15C>A
|
|
|
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup)
|
rs3032358
|
|
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)
|
|
|
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)
|
rs1451472748
|
|
NM_000045.4(ARG1):c.938del (p.Lys313fs)
|
rs1554251356
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
NM_000046.5(ARSB):c.1213+6T>C
|
rs1554074118
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)
|
rs771113472
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)
|
rs397514441
|
|
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)
|
rs969231209
|
|
NM_000046.5(ARSB):c.312+2T>G
|
|
|
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)
|
rs757061042
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)
|
rs1554086414
|
|
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)
|
rs869312994
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2805G>T (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
NM_000051.4(ATM):c.4020A>G (p.Leu1340=)
|
rs1555095888
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5961T>G (p.Ser1987=)
|
rs1060504265
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7516-9del
|
rs573494809
|
|
NM_000051.4(ATM):c.7516-9dup
|
rs573494809
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7788+3A>G
|
rs869312788
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000051.4(ATM):c.8559G>A (p.Thr2853=)
|
rs368058202
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000052.7(ATP7A):c.1329del (p.Leu444fs)
|
rs2149083474
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)
|
rs1057516893
|
|
NM_000053.4(ATP7B):c.1739del (p.His580fs)
|
rs1555293357
|
|
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)
|
rs1057516561
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)
|
rs121908001
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)
|
rs1394999756
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)
|
rs770020484
|
|
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs)
|
rs1555290810
|
|
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs)
|
rs2139209584
|
|
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)
|
rs2139201690
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)
|
rs1228359983
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)
|
rs1555287300
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)
|
rs753236073
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
|
rs1957151127
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
|
rs1375884723
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs)
|
rs2138560807
|
|
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)
|
rs1566441447
|
|
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)
|
rs776848753
|
|
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)
|
rs911589273
|
|
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])
|
rs782292545
|
|
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)
|
rs104893684
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs)
|
rs1566232310
|
|
NM_000059.3(BRCA2):c.7435+10G>A
|
rs81002793
|
|
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)
|
rs28897761
|
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
rs751250810
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs)
|
rs1064792995
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser)
|
rs863224584
|
|
NM_000059.4(BRCA2):c.10166C>T (p.Ser3389Phe)
|
rs431825279
|
|
NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn)
|
rs889208749
|
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
|
NM_000059.4(BRCA2):c.10221T>C (p.Asn3407=)
|
rs786203441
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
rs80358410
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
NM_000059.4(BRCA2):c.1254A>C (p.Ser418=)
|
rs1052409595
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser)
|
rs2072285447
|
|
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)
|
rs1555281911
|
|
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)
|
rs80358432
|
|
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)
|
rs11571587
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)
|
rs886040389
|
|
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser)
|
rs765924757
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
NM_000059.4(BRCA2):c.1846del (p.Cys616fs)
|
rs1566224496
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
NM_000059.4(BRCA2):c.1910-1G>T
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.2106del (p.Thr703fs)
|
rs2072450488
|
|
NM_000059.4(BRCA2):c.2176del (p.Val726fs)
|
rs1555282499
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
|
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)
|
rs786201315
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.2819A>G (p.Gln940Arg)
|
rs1057520249
|
|
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
|
rs2072467220
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
rs786203080
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)
|
rs876658555
|
|
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)
|
rs2072472083
|
|
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer)
|
rs1555283051
|
|
NM_000059.4(BRCA2):c.3213T>C (p.His1071=)
|
rs863224304
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
NM_000059.4(BRCA2):c.3395_3396delinsGG (p.Lys1132Arg)
|
rs1060502496
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
rs80358598
|
|
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)
|
rs80358605
|
|
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)
|
rs431825310
|
|
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)
|
rs864622134
|
|
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)
|
rs1555283366
|
|
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)
|
rs1555283381
|
|
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)
|
rs1555280859
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)
|
rs1555283442
|
|
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)
|
rs1566229421
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=)
|
rs768735660
|
|
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)
|
rs876658329
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
rs397507713
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del)
|
rs80359442
|
|
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs)
|
rs1064794168
|
|
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)
|
rs769535925
|
|
NM_000059.4(BRCA2):c.4320A>G (p.Lys1440=)
|
rs769535925
|
|
NM_000059.4(BRCA2):c.4461A>G (p.Lys1487=)
|
rs786201350
|
|
NM_000059.4(BRCA2):c.452dup (p.Thr152fs)
|
rs2072343917
|
|
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=)
|
rs206075
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)
|
rs1555283865
|
|
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)
|
rs1555283875
|
|
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer)
|
rs2137508514
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.476-3C>T
|
rs371431745
|
|
NM_000059.4(BRCA2):c.476-9dup
|
rs276174849
|
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
rs80358709
|
|
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)
|
rs397507748
|
|
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)
|
rs1566231364
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn)
|
rs80358731
|
|
NM_000059.4(BRCA2):c.516+14del
|
rs1336445194
|
|
NM_000059.4(BRCA2):c.516+17G>T
|
rs765435155
|
|
NM_000059.4(BRCA2):c.517-16T>C
|
rs81002839
|
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
rs80358743
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)
|
rs587781849
|
|
NM_000059.4(BRCA2):c.5508T>G (p.Asn1836Lys)
|
rs80358774
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)
|
rs80358779
|
|
NM_000059.4(BRCA2):c.5631C>T (p.Asn1877=)
|
rs374326934
|
|
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=)
|
rs80358784
|
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
rs730881538
|
|
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)
|
rs80358787
|
|
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)
|
rs886040602
|
|
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)
|
rs786202618
|
|
NM_000059.4(BRCA2):c.5700A>G (p.Ser1900=)
|
rs730881591
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)
|
rs1555284559
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)
|
rs1566234047
|
|
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)
|
rs80358863
|
|
NM_000059.4(BRCA2):c.627C>A (p.Leu209=)
|
rs28897704
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
rs35029074
|
|
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs)
|
rs886038145
|
|
NM_000059.4(BRCA2):c.63A>G (p.Lys21=)
|
rs1280004443
|
|
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs)
|
rs2072554847
|
|
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)
|
rs780721021
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
NM_000059.4(BRCA2):c.67+16A>G
|
rs529148674
|
|
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)
|
rs80359624
|
|
NM_000059.4(BRCA2):c.68-2A>G
|
rs769152395
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
NM_000059.4(BRCA2):c.681+4A>G
|
rs397507884
|
|
NM_000059.4(BRCA2):c.682-15C>T
|
rs864622084
|
|
NM_000059.4(BRCA2):c.6842-14A>T
|
rs81002821
|
|
NM_000059.4(BRCA2):c.6842-20T>C
|
rs81002811
|
|
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs)
|
rs2137536911
|
|
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)
|
rs1555285156
|
|
NM_000059.4(BRCA2):c.6937+13T>G
|
rs587780868
|
|
NM_000059.4(BRCA2):c.6937+17A>T
|
rs1057522185
|
|
NM_000059.4(BRCA2):c.6938-25_6938-19del
|
rs762815401
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007+7_7007+8del
|
rs1555285373
|
|
NM_000059.4(BRCA2):c.7008-9C>T
|
rs186220967
|
|
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=)
|
rs276174888
|
|
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)
|
rs786202600
|
|
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)
|
rs80359638
|
|
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)
|
rs1555281459
|
|
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)
|
rs80358953
|
|
NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp)
|
rs398122580
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
NM_000059.4(BRCA2):c.7436-10T>C
|
rs398122582
|
|
NM_000059.4(BRCA2):c.7436-1G>T
|
rs886040939
|
|
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)
|
rs80358976
|
|
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=)
|
rs140693106
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
NM_000059.4(BRCA2):c.7618-6G>T
|
rs1057520251
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs)
|
rs2137567005
|
|
NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp)
|
rs80359001
|
|
NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=)
|
rs2072711060
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)
|
rs863224468
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
rs786202796
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs)
|
rs2137580749
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.8331+16C>T
|
rs730881595
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.837C>T (p.Cys279=)
|
rs587781421
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8487+4T>C
|
rs81002801
|
|
NM_000059.4(BRCA2):c.8488-5T>C
|
rs533806629
|
|
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)
|
rs80359712
|
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
NM_000059.4(BRCA2):c.8633-19_8633-17del
|
rs770871854
|
|
NM_000059.4(BRCA2):c.8633-4T>A
|
rs397507407
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)
|
rs80359803
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)
|
rs1555288386
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
NM_000059.4(BRCA2):c.8952A>G (p.Ser2984=)
|
rs876660709
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.8954-5_8954-2del
|
rs587782878
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs)
|
rs2137622994
|
|
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
NM_000059.4(BRCA2):c.9117+12T>A
|
rs1212956665
|
|
NM_000059.4(BRCA2):c.9118-14T>C
|
rs81002815
|
|
NM_000059.4(BRCA2):c.9118-6C>T
|
rs81002890
|
|
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs)
|
rs1555288557
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
NM_000059.4(BRCA2):c.9257-10del
|
rs276174919
|
|
NM_000059.4(BRCA2):c.9257-8C>T
|
rs11571819
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)
|
rs778782209
|
|
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.939T>C (p.Ser313=)
|
rs1593891536
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)
|
rs755890067
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000059.4(BRCA2):c.9649-6dup
|
rs276174929
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)
|
rs1566260997
|
|
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg)
|
rs28897706
|
|
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)
|
rs80359251
|
|
NM_000059.4(BRCA2):c.9981A>T (p.Lys3327Asn)
|
rs587782098
|
|
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)
|
rs1057519825
|
|
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
|
rs128621207
|
|
NM_000061.3(BTK):c.998A>G (p.His333Arg)
|
rs193922133
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
NM_000064.4(C3):c.2246-18_2246-17delinsTT
|
|
|
NM_000069.3(CACNA1S):c.3256-13G>T
|
|
|
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)
|
rs550371466
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu)
|
rs121913386
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)
|
rs1064794292
|
|
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro)
|
rs878853650
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)
|
rs761601545
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)
|
rs587779723
|
|
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)
|
rs587779495
|
|
NM_000090.4(COL3A1):c.951+4A>T
|
rs587779598
|
|
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)
|
rs587779673
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2657-6C>T
|
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
|
|
|
NM_000092.5(COL4A4):c.3973+17G>A
|
|
|
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
|
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)
|
rs370766020
|
|
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=)
|
rs1554798918
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
|
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
|
|
|
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
|
|
|
NM_000094.4(COL7A1):c.6457-13C>T
|
|
|
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg)
|
rs1575430201
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)
|
rs1572385947
|
|
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)
|
rs780286639
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)
|
rs1423560123
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)
|
rs749571474
|
|
NM_000110.4(DPYD):c.1764del (p.Arg589fs)
|
rs1346124437
|
|
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)
|
rs773499329
|
|
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr)
|
rs114096998
|
|
NM_000111.3(SLC26A3):c.1181G>T (p.Ser394Ile)
|
|
|
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu)
|
rs386833480
|
|
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)
|
rs1554095397
|
|
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys)
|
rs568193912
|
|
NM_000123.4(ERCC5):c.3157= (p.Gly1053=)
|
|
|
NM_000123.4(ERCC5):c.3238= (p.Gly1080=)
|
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
|
|
|
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)
|
rs1459304265
|
|
NM_000128.4(F11):c.977G>A (p.Arg326His)
|
rs1554082932
|
|
NM_000132.4(F8):c.1804C>G (p.Arg602Gly)
|
rs137852424
|
|
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
|
|
|
NM_000132.4(F8):c.766T>A (p.Tyr256Asn)
|
rs1569559955
|
|
NM_000132.4(F8):c.979C>G (p.Leu327Val)
|
rs1603435395
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
NM_000136.3(FANCC):c.1534-5del
|
rs748342368
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)
|
rs1420414848
|
|
NM_000137.4(FAH):c.47A>T (p.Asn16Ile)
|
rs121965073
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)
|
rs886039550
|
|
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)
|
rs794728165
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)
|
rs1555400374
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)
|
rs794728176
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)
|
rs1064794282
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)
|
rs137854468
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys)
|
rs794728218
|
|
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer)
|
rs1566905976
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly)
|
rs112930491
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)
|
rs1555395750
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)
|
rs1131691373
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys)
|
rs886038786
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)
|
rs1567702819
|
|
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)
|
rs1189630738
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
NM_000152.5(GAA):c.-32-2A>G
|
rs1445232530
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)
|
rs749708827
|
|
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)
|
rs1555378534
|
|
NM_000153.4(GALC):c.349A>T (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
|
rs1555383498
|
|
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)
|
rs746922378
|
|
NM_000153.4(GALC):c.955del (p.Tyr319fs)
|
rs786204454
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
|
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.329G>A (p.Gly110Glu)
|
rs1057523885
|
|
NM_000155.4(GALT):c.414G>T (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
NM_000155.4(GALT):c.452T>C (p.Val151Ala)
|
rs111033701
|
|
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)
|
rs111033718
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)
|
rs111033781
|
|
NM_000155.4(GALT):c.98G>A (p.Arg33His)
|
rs111033829
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)
|
rs1569006974
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg)
|
rs786200979
|
|
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe)
|
rs1671865905
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)
|
rs398123190
|
|
NM_000159.4(GCDH):c.1173del (p.Asn392fs)
|
rs754002357
|
|
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)
|
rs933624223
|
|
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
|
|
|
NM_000159.4(GCDH):c.219del (p.Tyr74fs)
|
rs1057516521
|
|
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)
|
rs142967670
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)
|
rs566417795
|
|
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)
|
rs1555749434
|
|
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
|
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)
|
rs367699815
|
|
NM_000162.5(GCK):c.1019+1G>T
|
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu)
|
rs193922264
|
|
NM_000162.5(GCK):c.113A>C (p.Gln38Pro)
|
rs1064794268
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)
|
rs193922289
|
|
NM_000162.5(GCK):c.680-2A>G
|
rs1562715657
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
NM_000162.5(GCK):c.736G>A (p.Gly246Arg)
|
rs2096275721
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.76C>T (p.Gln26Ter)
|
rs193922329
|
|
NM_000162.5(GCK):c.863+1G>A
|
rs1376796469
|
|
NM_000162.5(GCK):c.884G>A (p.Gly295Asp)
|
rs2096273902
|
|
NM_000162.5(GCK):c.952G>A (p.Gly318Arg)
|
rs193922340
|
|
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
|
rs116840823
|
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099
|
|
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)
|
rs886044829
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys)
|
rs1928127475
|
|
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)
|
rs727504348
|
|
NM_000169.3(GLA):c.119C>T (p.Pro40Leu)
|
rs398123199
|
|
NM_000169.3(GLA):c.128del (p.Gly43fs)
|
rs797044500
|
|
NM_000169.3(GLA):c.153G>A (p.Met51Ile)
|
rs869312255
|
|
NM_000169.3(GLA):c.154dup (p.Cys52fs)
|
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000169.3(GLA):c.281G>T (p.Cys94Phe)
|
rs113173389
|
|
NM_000169.3(GLA):c.370-2A>C
|
rs730880444
|
|
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)
|
rs727503072
|
|
NM_000169.3(GLA):c.3G>A (p.Met1Ile)
|
rs2147487910
|
|
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)
|
rs727503951
|
|
NM_000169.3(GLA):c.422C>T (p.Thr141Ile)
|
rs886044843
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
NM_000169.3(GLA):c.444T>G (p.Ser148Arg)
|
rs1569304190
|
|
NM_000169.3(GLA):c.500T>C (p.Leu167Pro)
|
rs1928319806
|
|
NM_000169.3(GLA):c.59_72dup (p.Asp25fs)
|
rs1555987175
|
|
NM_000169.3(GLA):c.770C>T (p.Ala257Val)
|
rs1569303218
|
|
NM_000169.3(GLA):c.782G>T (p.Gly261Val)
|
rs869312401
|
|
NM_000169.3(GLA):c.791A>T (p.Asp264Val)
|
rs28935486
|
|
NM_000169.3(GLA):c.824_825del (p.Leu275fs)
|
rs1928173731
|
|
NM_000169.3(GLA):c.848dup (p.Met284fs)
|
rs1555985002
|
|
NM_000169.3(GLA):c.863del (p.Ala288fs)
|
rs1569303030
|
|
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)
|
rs398123223
|
|
NM_000169.3(GLA):c.902dup (p.His302fs)
|
rs1928166458
|
|
NM_000169.3(GLA):c.959_962del (p.Asn320fs)
|
rs398123225
|
|
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)
|
rs398123226
|
|
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)
|
rs104894832
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)
|
rs1597638398
|
|
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)
|
rs28933378
|
|
NM_000178.4(GSS):c.4del (p.Ala2fs)
|
rs752560204
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.3(MSH6):c.-17C>G
|
rs370816858
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.1902G>A (p.Leu634=)
|
rs1572724876
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.2019A>G (p.Pro673=)
|
rs863224327
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2187C>A (p.Ala729=)
|
rs375610656
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del)
|
rs587782858
|
|
NM_000179.3(MSH6):c.255C>A (p.Pro85=)
|
rs587779242
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.2958C>T (p.Thr986=)
|
rs757866392
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2986T>C (p.Leu996=)
|
rs876658605
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=)
|
rs149605979
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=)
|
rs544518097
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-26_3439-25del
|
rs750310368
|
|
NM_000179.3(MSH6):c.3456A>G (p.Val1152=)
|
rs750998416
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3477C>T (p.Tyr1159=)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
NM_000179.3(MSH6):c.3556+36_3556+39del
|
rs55684722
|
|
NM_000179.3(MSH6):c.3557-7_3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.366G>A (p.Glu122=)
|
rs774303198
|
|
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=)
|
rs545552712
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
|
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
NM_000179.3(MSH6):c.3930G>A (p.Glu1310=)
|
rs267608129
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
NM_000179.3(MSH6):c.3990A>G (p.Leu1330=)
|
rs1558394684
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
NM_000179.3(MSH6):c.4002-6_4002-1del
|
rs1670205307
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000179.3(MSH6):c.458-9T>C
|
rs1572716040
|
|
NM_000179.3(MSH6):c.517_520del (p.Leu173fs)
|
rs1553411419
|
|
NM_000179.3(MSH6):c.627+25_627+27del
|
rs560035113
|
|
NM_000179.3(MSH6):c.627+3G>A
|
rs876659495
|
|
NM_000179.3(MSH6):c.628-7C>T
|
rs373129248
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000179.3(MSH6):c.945T>G (p.Ser315=)
|
rs761581941
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)
|
rs2149118712
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
NM_000188.3(HK1):c.1969G>A (p.Asp657Asn)
|
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000206.3(IL2RG):c.270-1G>T
|
rs193922346
|
|
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)
|
rs193922347
|
|
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)
|
rs1057517747
|
|
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)
|
rs193922348
|
|
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr)
|
rs1064794027
|
|
NM_000206.3(IL2RG):c.758-2A>G
|
rs2147747509
|
|
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)
|
rs1064793347
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
NM_000209.4(PDX1):c.217dup (p.Leu73fs)
|
rs1445970498
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.693C>T (p.Ser231=)
|
rs200411304
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000218.3(KCNQ1):c.1251+13C>A
|
rs201364493
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1394-8C>T
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs)
|
rs1848361555
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro)
|
rs199472699
|
|
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.781-19TG[2]
|
rs727503103
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter)
|
rs1057516759
|
|
NM_000228.3(LAMB3):c.3228+11G>A
|
rs1420480218
|
|
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
|
|
|
NM_000235.4(LIPA):c.429-10T>G
|
rs1554865817
|
|
NM_000235.4(LIPA):c.600G>A (p.Leu200=)
|
rs1172318248
|
|
NM_000237.3(LPL):c.213C>G (p.His71Gln)
|
rs11542065
|
|
NM_000237.3(LPL):c.250-8_250-6del
|
|
|
NM_000237.3(LPL):c.678A>G (p.Pro226=)
|
rs558390128
|
|
NM_000237.3(LPL):c.89-10del
|
rs547644955
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter)
|
rs749211387
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)
|
rs143512106
|
|
NM_000238.4(KCNH2):c.2766del (p.Pro923fs)
|
rs1554424403
|
|
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
|
rs1800940404
|
|
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)
|
rs1554424044
|
|
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
|
rs1800937691
|
|
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)
|
rs36210421
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)
|
rs199473487
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000245.4(MET):c.1306G>C (p.Glu436Gln)
|
rs200740468
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1569G>T (p.Glu523Asp)
|
rs63751680
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)
|
rs63751713
|
|
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)
|
rs1064795693
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro)
|
rs587779957
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000249.4(MLH1):c.380+10T>C
|
rs1553641403
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.545+4_545+5del
|
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-2A>T
|
rs267607759
|
|
NM_000249.4(MLH1):c.589-9_589-6del
|
rs587779026
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.885-8C>T
|
rs762836160
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000249.4(MLH1):c.927C>T (p.Pro309=)
|
rs63749896
|
|
NM_000251.3(MSH2):c.-8G>T
|
rs1064795641
|
|
NM_000251.3(MSH2):c.-9G>A
|
rs547444746
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1387-14_1387-11del
|
rs370436680
|
|
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)
|
rs876658223
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)
|
rs267607996
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2458+10A>G
|
rs1269379998
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.2580G>T (p.Ser860=)
|
rs752428475
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
|
rs267607919
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
NM_000251.3(MSH2):c.6G>T (p.Ala2=)
|
rs368270856
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
|
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000257.4(MYH7):c.1048T>C (p.Tyr350His)
|
rs730880863
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly)
|
rs2754158
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2923-5G>A
|
rs779010466
|
|
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)
|
rs529700838
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)
|
rs730880910
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
|
rs397516258
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
NM_000264.5(PTCH1):c.-24GGC[5]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.-24GGC[8]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter)
|
rs1311804361
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)
|
rs1057517455
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
|
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.510-20_510-18dup
|
rs398123293
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000277.3(PAH):c.535T>C (p.Tyr179His)
|
rs199475671
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)
|
rs62508730
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.770G>T (p.Gly257Val)
|
rs62642908
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)
|
rs62508715
|
|
NM_000277.3(PAH):c.827T>G (p.Met276Arg)
|
rs62508722
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)
|
rs1555204295
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)
|
rs769896492
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)
|
|
|
NM_000308.4(CTSA):c.112del (p.Leu38fs)
|
rs1241378191
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup)
|
rs72555383
|
|
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter)
|
rs386833668
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
NM_000314.8(PTEN):c.-838C>T
|
rs786201900
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn)
|
rs2108987681
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1499-10del
|
rs148580581
|
|
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)
|
rs572454921
|
|
NM_000321.3(RB1):c.608-4del
|
rs762805947
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
|
|
|
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
|
|
|
NM_000335.5(SCN5A):c.1140+1G>A
|
rs730880210
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)
|
rs794728865
|
|
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)
|
rs756159737
|
|
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)
|
rs199473055
|
|
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)
|
rs1559738598
|
|
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)
|
rs1553695764
|
|
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)
|
rs199473224
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr)
|
rs199473633
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys)
|
rs199473082
|
|
NM_000337.6(SGCD):c.105G>C (p.Leu35=)
|
rs193922392
|
|
NM_000337.6(SGCD):c.3+19C>T
|
rs182715924
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[2]
|
rs727504998
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[4]
|
rs727504998
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000344.4(SMN1):c.*3+1G>A
|
rs1290417835
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
|
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
|
rs752311616
|
|
NM_000349.3(STAR):c.714del (p.Lys238fs)
|
rs1417088430
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2292-16G>A
|
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
NM_000352.6(ABCC8):c.2695-20G>A
|
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
|
|
|
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)
|
rs786204540
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.983G>T (p.Cys328Phe)
|
rs121917765
|
|
NM_000361.3(THBD):c.168G>A (p.Arg56=)
|
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000363.5(TNNI3):c.282+16_282+17delinsTT
|
rs1555864004
|
|
NM_000363.5(TNNI3):c.562G>A (p.Val188Met)
|
rs193922409
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)
|
rs2234980
|
|
NM_000369.5(TSHR):c.2098A>G (p.Lys700Glu)
|
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000371.4(TTR):c.*9TCC[1]
|
rs766223850
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)
|
rs1555631402
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)
|
rs121918082
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
NM_000371.4(TTR):c.372C>G (p.Arg124=)
|
rs780119793
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)
|
rs121918096
|
|
NM_000377.3(WAS):c.273+10_273+11dup
|
rs58371799
|
|
NM_000381.4(MID1):c.1841C>T (p.Ser614Phe)
|
|
|
NM_000381.4(MID1):c.778G>A (p.Ala260Thr)
|
|
|
NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu)
|
rs1010078101
|
|
NM_000382.3(ALDH3A2):c.153+8C>A
|
rs1410085369
|
|
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)
|
rs767751416
|
|
NM_000382.3(ALDH3A2):c.471+1del
|
rs786204741
|
|
NM_000382.3(ALDH3A2):c.472-2A>G
|
|
|
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
|
rs72547567
|
|
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
|
|
|
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)
|
rs786204567
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000383.4(AIRE):c.1404G>A (p.Thr468=)
|
rs7281600
|
|
NM_000383.4(AIRE):c.799-17G>A
|
rs72650675
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000384.3(APOB):c.10520G>C (p.Arg3507Pro)
|
rs201156840
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000384.3(APOB):c.10740C>T (p.Asn3580=)
|
rs150312765
|
|
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
|
|
|
NM_000384.3(APOB):c.10848del (p.Gly3617fs)
|
rs982371659
|
|
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
|
rs760832994
|
|
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)
|
rs756998699
|
|
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)
|
rs748394731
|
|
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)
|
rs754871147
|
|
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)
|
|
|
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)
|
rs747335514
|
|
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)
|
rs201852643
|
|
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)
|
rs193922436
|
|
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)
|
rs757571398
|
|
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)
|
rs1060502179
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
NM_000393.5(COL5A2):c.1455+6G>A
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
NM_000393.5(COL5A2):c.2770-15del
|
rs577038385
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000396.4(CTSK):c.541T>C (p.Tyr181His)
|
rs868112062
|
|
NM_000397.4(CYBB):c.1140dup (p.Lys381fs)
|
rs193922445
|
|
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter)
|
rs2146822029
|
|
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter)
|
rs193922449
|
|
NM_000410.4(HFE):c.848A>C (p.Gln283Pro)
|
rs111033563
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1768-1G>A
|
|
|
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)
|
rs751646311
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs)
|
rs2114839550
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
|
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
|
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
NM_000432.4(MYL2):c.274+16_274+17insTC
|
rs200007468
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
|
rs751458617
|
|
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter)
|
rs768711214
|
|
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile)
|
rs771899820
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
|
|
|
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)
|
rs1064793249
|
|
NM_000451.4(SHOX):c.486+8C>G
|
rs374705909
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.318G>T (p.Arg106=)
|
rs777784520
|
|
NM_000455.5(STK11):c.407T>C (p.Met136Thr)
|
rs1060499958
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000455.5(STK11):c.558C>T (p.Thr186=)
|
rs749563734
|
|
NM_000455.5(STK11):c.735-10C>T
|
rs553975112
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
NM_000455.5(STK11):c.920+7G>A
|
rs2075607
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
NM_000458.4(HNF1B):c.345-1G>T
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe)
|
rs72551360
|
|
NM_000465.4(BARD1):c.1461G>T (p.Val487=)
|
rs1694272372
|
|
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
|
rs386654966
|
|
NM_000465.4(BARD1):c.1644G>A (p.Lys548=)
|
rs1064796411
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
NM_000465.4(BARD1):c.365-8del
|
rs776103948
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)
|
rs1553414563
|
|
NM_000478.6(ALPL):c.1132G>C (p.Asp378His)
|
rs1553414611
|
|
NM_000478.6(ALPL):c.1171del (p.Arg391fs)
|
rs751404811
|
|
NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu)
|
rs1644740176
|
|
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)
|
rs768053120
|
|
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
|
rs1644755212
|
|
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser)
|
rs761079751
|
|
NM_000478.6(ALPL):c.178G>C (p.Asp60His)
|
rs1644472852
|
|
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)
|
rs1644478533
|
|
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)
|
rs121918003
|
|
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)
|
rs1320839573
|
|
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)
|
rs121918013
|
|
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)
|
rs1188506084
|
|
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)
|
rs747762186
|
|
NM_000478.6(ALPL):c.46_49del (p.Asn16fs)
|
rs1057516230
|
|
NM_000478.6(ALPL):c.472+12del
|
rs35423948
|
|
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)
|
rs121918004
|
|
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)
|
rs1553413155
|
|
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)
|
rs769020799
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)
|
rs765458125
|
|
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)
|
rs1209147330
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
NM_000487.6(ARSA):c.109_116del (p.Asp37fs)
|
rs753415648
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)
|
rs765905826
|
|
NM_000487.6(ARSA):c.1344dup (p.Gly449fs)
|
rs761555167
|
|
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)
|
rs774153480
|
|
NM_000487.6(ARSA):c.200del (p.Pro67fs)
|
rs2082697802
|
|
NM_000487.6(ARSA):c.211_212del (p.Cys71fs)
|
rs1057516288
|
|
NM_000487.6(ARSA):c.240dup (p.Gly81fs)
|
rs786204599
|
|
NM_000487.6(ARSA):c.244del (p.Arg82fs)
|
rs1569081823
|
|
NM_000487.6(ARSA):c.304del (p.Leu102fs)
|
rs786204673
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.418dup (p.His140fs)
|
rs745884435
|
|
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)
|
rs199476359
|
|
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)
|
rs199476360
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)
|
rs199476390
|
|
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)
|
rs398123419
|
|
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr)
|
rs1449772752
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)
|
rs2115882158
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1209+18A>C
|
rs193922499
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
NM_000492.4(CFTR):c.1584+53_1584+63dup
|
rs397508232
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-2A>T
|
rs397508233
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)
|
rs121908757
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
|
|
|
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)
|
rs80055610
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)
|
rs121909025
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1766+2T>C
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu)
|
rs193922508
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
|
rs1792366769
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3022del (p.Val1008fs)
|
rs397508482
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.3140-11A>G
|
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly)
|
rs397508569
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)
|
rs1057516970
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3623del (p.Gly1208fs)
|
rs35396083
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.4243-35del
|
rs193922527
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.744-33GATT[8]
|
rs1805171
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)
|
rs61752786
|
|
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA
|
rs1586561494
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000515.5(GH1):c.7A>C (p.Thr3Pro)
|
rs2001345
|
|
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC
|
rs1596570272
|
|
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn)
|
rs63750010
|
|
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)
|
rs33987053
|
|
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr)
|
rs41467944
|
|
NM_000518.4(HBB):c.-82C>A
|
rs34500389
|
|
NM_000518.4(HBB):c.-92C>G
|
rs397515291
|
|
NM_000518.4(HBB):c.125T>C (p.Phe42Ser)
|
rs33926796
|
|
NM_000518.4(HBB):c.137T>C (p.Phe46Ser)
|
rs33978338
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000518.4(HBB):c.20A>C (p.Glu7Ala)
|
rs334
|
|
NM_000518.4(HBB):c.232C>T (p.His78Tyr)
|
rs33991294
|
|
NM_000518.4(HBB):c.263C>A (p.Thr88Lys)
|
rs33993568
|
|
NM_000518.4(HBB):c.271G>A (p.Glu91Lys)
|
rs33913712
|
|
NM_000518.4(HBB):c.283G>A (p.Asp95Asn)
|
rs33959340
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.374C>T (p.Pro125Leu)
|
rs33983276
|
|
NM_000518.4(HBB):c.386C>T (p.Ala129Val)
|
rs33957286
|
|
NM_000518.4(HBB):c.44T>G (p.Leu15Arg)
|
rs33935445
|
|
NM_000518.4(HBB):c.67G>C (p.Glu23Gln)
|
rs33959855
|
|
NM_000518.5(HBB):c.*110_*111del
|
rs63750205
|
|
NM_000518.5(HBB):c.*113A>G
|
rs33985472
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
NM_000518.5(HBB):c.*6C>G
|
rs34809925
|
|
NM_000518.5(HBB):c.-82C>T
|
rs34500389
|
|
NM_000518.5(HBB):c.100G>A (p.Val34Met)
|
rs1141370
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.16C>T (p.Pro6Ser)
|
rs33912272
|
|
NM_000518.5(HBB):c.186G>C (p.Lys62Asn)
|
rs34446260
|
|
NM_000518.5(HBB):c.1A>C (p.Met1Leu)
|
rs34563000
|
|
NM_000518.5(HBB):c.203_204del (p.Val68fs)
|
rs34282684
|
|
NM_000518.5(HBB):c.230del (p.Ala77fs)
|
rs281864901
|
|
NM_000518.5(HBB):c.251G>A (p.Gly84Asp)
|
rs1803195
|
|
NM_000518.5(HBB):c.2T>A (p.Met1Lys)
|
rs33941849
|
|
NM_000518.5(HBB):c.2T>C (p.Met1Thr)
|
rs33941849
|
|
NM_000518.5(HBB):c.315+2T>G
|
rs63750283
|
|
NM_000518.5(HBB):c.315+2del
|
rs1564874813
|
|
NM_000518.5(HBB):c.315+9A>G
|
rs1277597344
|
|
NM_000518.5(HBB):c.316-109C>T
|
rs1554917650
|
|
NM_000518.5(HBB):c.316-114C>T
|
rs1003790835
|
|
NM_000518.5(HBB):c.316-128G>C
|
rs1291160651
|
|
NM_000518.5(HBB):c.316-141G>A
|
rs1011427406
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
NM_000518.5(HBB):c.316-198G>A
|
rs547258651
|
|
NM_000518.5(HBB):c.316-1G>T
|
rs33952266
|
|
NM_000518.5(HBB):c.316-27T>G
|
rs1280140490
|
|
NM_000518.5(HBB):c.316-28G>C
|
rs771736852
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.316-42del
|
rs746631999
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
NM_000518.5(HBB):c.316-85A>G
|
rs1847534399
|
|
NM_000518.5(HBB):c.316-96G>A
|
rs193922561
|
|
NM_000518.5(HBB):c.316-99del
|
rs1257175417
|
|
NM_000518.5(HBB):c.31G>A (p.Ala11Thr)
|
rs63750717
|
|
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)
|
rs34726542
|
|
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
|
rs33925391
|
|
NM_000518.5(HBB):c.394C>G (p.Gln132Glu)
|
rs33910209
|
|
NM_000518.5(HBB):c.397A>C (p.Lys133Gln)
|
rs33953406
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000518.5(HBB):c.4G>A (p.Val2Met)
|
rs33958358
|
|
NM_000518.5(HBB):c.57G>A (p.Val19=)
|
rs1554918177
|
|
NM_000518.5(HBB):c.5T>C (p.Val2Ala)
|
rs33949930
|
|
NM_000518.5(HBB):c.64dup (p.Asp22fs)
|
rs1554918165
|
|
NM_000518.5(HBB):c.8A>C (p.His3Pro)
|
rs33983205
|
|
NM_000518.5(HBB):c.92+13G>T
|
rs753444453
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000518.5(HBB):c.92+5G>A
|
rs33915217
|
|
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)
|
rs33960103
|
|
NM_000518.5(HBB):c.93-15T>G
|
rs35456885
|
|
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
|
rs1554918013
|
|
NM_000518.5(HBB):c.93-3T>G
|
rs34527846
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|
NM_000520.4(HEXA):c.-2564_253+5128delinsG
|
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
|
rs770303210
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.1525_1526+27del
|
rs2140319516
|
|
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)
|
rs1555472161
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
NM_000520.6(HEXA):c.413-2A>G
|
rs2088733862
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg)
|
rs745454291
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000521.4(HEXB):c.558+1G>C
|
rs1198764997
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)
|
rs879254814
|
|
NM_000527.5(LDLR):c.1186+11G>A
|
rs879254822
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
|
rs879254837
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
NM_000527.5(LDLR):c.1243G>C (p.Asp415His)
|
rs879254844
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)
|
rs1555805237
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu)
|
rs754536745
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)
|
rs875989894
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
NM_000527.5(LDLR):c.274del (p.Gln92fs)
|
rs2077232183
|
|
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)
|
rs875989895
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)
|
rs879254584
|
|
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)
|
rs879254597
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)
|
rs746091400
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter)
|
rs2147228929
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr)
|
rs879254683
|
|
NM_000527.5(LDLR):c.817+1G>A
|
rs879254685
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)
|
rs879254692
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
|
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)
|
rs1555803908
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
|
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)
|
rs1555706137
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
NM_000531.6(OTC):c.791C>T (p.Thr264Ile)
|
rs67156896
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)
|
rs72558462
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
NM_000535.7(PMS2):c.1209C>T (p.Ser403=)
|
rs147399413
|
|
NM_000535.7(PMS2):c.1224T>C (p.Thr408=)
|
rs1554298007
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)
|
rs587780725
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA
|
rs1782473185
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
NM_000535.7(PMS2):c.2085C>T (p.Ile695=)
|
rs757157176
|
|
NM_000535.7(PMS2):c.2160G>A (p.Gly720=)
|
rs546441038
|
|
NM_000535.7(PMS2):c.2446-19C>T
|
rs1390101876
|
|
NM_000535.7(PMS2):c.2538A>G (p.Gly846=)
|
rs863224368
|
|
NM_000535.7(PMS2):c.2559C>T (p.Ile853=)
|
rs371673459
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu)
|
rs201921616
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000540.3(RYR1):c.1123-9del
|
rs775029935
|
|
NM_000540.3(RYR1):c.11779-11G>A
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val)
|
rs2145917369
|
|
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
|
rs1568436081
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)
|
rs1057516403
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.1502-6G>A
|
rs1458430820
|
|
NM_000545.8(HNF1A):c.327-18G>A
|
|
|
NM_000545.8(HNF1A):c.519G>A (p.Val173=)
|
rs534301078
|
|
NM_000545.8(HNF1A):c.527-1G>A
|
rs1555211904
|
|
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)
|
rs1876084046
|
|
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)
|
rs1555211922
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1079G>T (p.Gly360Val)
|
rs35993958
|
|
NM_000546.6(TP53):c.1100+8A>G
|
rs878854062
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs)
|
rs2073455679
|
|
NM_000546.6(TP53):c.344A>G (p.His115Arg)
|
rs730881996
|
|
NM_000546.6(TP53):c.559+8G>A
|
rs775915220
|
|
NM_000546.6(TP53):c.63C>T (p.Asp21=)
|
rs1800369
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.666G>T (p.Pro222=)
|
rs72661118
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
|
NM_000546.6(TP53):c.672+1G>T
|
rs863224499
|
|
NM_000546.6(TP53):c.672+9T>C
|
rs1057521030
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.749C>T (p.Pro250Leu)
|
rs1064794311
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer)
|
rs2073171970
|
|
NM_000546.6(TP53):c.924G>C (p.Leu308=)
|
rs786202546
|
|
NM_000546.6(TP53):c.993+1del
|
rs1131691033
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
NM_000551.4(VHL):c.189dup (p.Arg64fs)
|
rs1553619402
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)
|
rs398123481
|
|
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)
|
rs730882034
|
|
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)
|
rs730882034
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
NM_000551.4(VHL):c.388G>T (p.Val130Phe)
|
rs104893830
|
|
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)
|
rs1064794272
|
|
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)
|
rs5030833
|
|
NM_000551.4(VHL):c.407T>G (p.Phe136Cys)
|
rs5030833
|
|
NM_000551.4(VHL):c.414A>G (p.Pro138=)
|
rs869025648
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000552.5(VWF):c.1613C>T (p.Pro538Leu)
|
rs139196998
|
|
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)
|
rs368366214
|
|
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)
|
rs1591865026
|
|
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
|
rs61749368
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu)
|
rs61750072
|
|
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)
|
rs61750100
|
|
NM_000552.5(VWF):c.5793G>A (p.Gln1931=)
|
|
|
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
|
|
|
NM_000558.3(HBA1):c.310C>T (p.His104Tyr)
|
rs28928884
|
|
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)
|
rs41407250
|
|
NM_000558.5(HBA1):c.98T>A (p.Met33Lys)
|
rs281864566
|
|
NM_000593.6(TAP1):c.-46_-45delinsAT
|
rs1770963822
|
|
NM_000612.6(IGF2):c.100G>A (p.Gly34Ser)
|
rs1858937359
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000701.8(ATP1A1):c.12+3G>T
|
|
|
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn)
|
rs2101995480
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile)
|
rs193922615
|
|
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)
|
rs193922616
|
|
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
|
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu)
|
rs28934605
|
|
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)
|
rs1555603994
|
|
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
|
rs201199166
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
NM_001005242.3(PKP2):c.2168-21_2168-20del
|
rs200266270
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)
|
rs2111857835
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)
|
rs727504290
|
|
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=)
|
rs764447374
|
|
NM_001018115.3(FANCD2):c.1278+3_1278+6del
|
rs369823368
|
|
NM_001018115.3(FANCD2):c.1278+5G>T
|
rs796652647
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_001025356.3(ANO6):c.1880+17A>G
|
|
|
NM_001025356.3(ANO6):c.2107G>T (p.Ala703Ser)
|
|
|
NM_001025356.3(ANO6):c.276A>G (p.Gln92=)
|
|
|
NM_001025603.2(RFX5):c.1032C>T (p.Ile344=)
|
rs1557831362
|
|
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=)
|
rs773115
|
|
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg)
|
rs574353697
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001035.2(RYR2):c.14091-11dup
|
rs35563566
|
|
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)
|
rs372943408
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001035.3(RYR2):c.1477-11del
|
rs397516518
|
|
NM_001035.3(RYR2):c.1477-11dup
|
rs397516518
|
|
NM_001035.3(RYR2):c.1477-12_1477-11dup
|
rs397516518
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)
|
rs114534505
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
NM_001035.3(RYR2):c.7222-12dup
|
rs145140335
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
NM_001037.5(SCN1B):c.207+13C>T
|
rs373809858
|
|
NM_001037.5(SCN1B):c.448+167C>G
|
rs529053826
|
|
NM_001037333.3(CYFIP2):c.2909-16C>T
|
|
|
NM_001039876.3(SYNE4):c.973-2A>T
|
|
|
NM_001039958.2(MESP2):c.401_411dup (p.Val138fs)
|
rs1218757887
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=)
|
rs1162322343
|
|
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)
|
rs796052029
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)
|
rs386833706
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.3197+9dup
|
rs755212937
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.6922-14_6922-13del
|
rs146785663
|
|
NM_001042492.3(NF1):c.7190-33TTGT[3]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.7971-8del
|
rs564545012
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)
|
rs587781295
|
|
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)
|
rs1553129062
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.929_930delinsGC (p.Gln310Arg)
|
rs587780083
|
|
NM_001061.7(TBXAS1):c.1365-10G>A
|
rs765137338
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His)
|
rs1017182331
|
|
NM_001079.4(ZAP70):c.790+12_790+15dup
|
rs761349565
|
|
NM_001079802.2(FKTN):c.*4388del
|
rs148253503
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg)
|
rs398123558
|
|
NM_001079802.2(FKTN):c.911-13A>G
|
rs766103012
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
|
|
|
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
|
|
|
NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly)
|
rs142012387
|
|
NM_001083961.2(WDR62):c.1768+17C>T
|
|
|
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)
|
rs587784469
|
|
NM_001085049.3(MRAS):c.552GAA[4] (p.Lys189del)
|
rs752298978
|
|
NM_001089.3(ABCA3):c.1112-20G>A
|
|
|
NM_001089.3(ABCA3):c.1611+6G>A
|
|
|
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe)
|
rs1022923684
|
|
NM_001089.3(ABCA3):c.537G>C (p.Trp179Cys)
|
|
|
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)
|
rs121909521
|
|
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr)
|
rs142943120
|
|
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=)
|
rs369560444
|
|
NM_001103.4(ACTN2):c.18C>A (p.Pro6=)
|
rs368367224
|
|
NM_001103.4(ACTN2):c.918C>T (p.Asn306=)
|
rs148646265
|
|
NM_001110556.2(FLNA):c.2405-8_2405-5dup
|
rs782040815
|
|
NM_001110792.2(MECP2):c.-31AG[2]
|
rs587783128
|
|
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)
|
rs2148659508
|
|
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
|
rs267608424
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
|
rs193922679
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
NM_001113378.2(FANCI):c.295del (p.His99fs)
|
rs759398314
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001126049.2(KLLN):c.-1007C>G
|
rs587780001
|
|
NM_001126049.2(KLLN):c.-1007C>T
|
rs587780001
|
|
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
|
|
|
NM_001126108.2(SLC12A3):c.2286-18C>T
|
|
|
NM_001126108.2(SLC12A3):c.2720+8C>T
|
rs957373573
|
|
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)
|
rs748920885
|
|
NM_001126128.2(PROK2):c.297dup (p.Gly100fs)
|
rs768413190
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)
|
rs561656938
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)
|
rs746449748
|
|
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)
|
rs2140067871
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)
|
rs61742872
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
NM_001134363.3(RBM20):c.3317-20C>T
|
rs202039414
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
NM_001145809.2(MYH14):c.4539+14G>A
|
rs779431768
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
NM_001148.6(ANK2):c.11032+17G>A
|
rs587780853
|
|
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)
|
rs56173868
|
|
NM_001148.6(ANK2):c.4371+19T>C
|
rs1057522286
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
NM_001160036.2(RHOBTB2):c.20G>A (p.Gly7Asp)
|
rs186695833
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)
|
rs193302885
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1])
|
rs377452683
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala)
|
rs1558825869
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001165963.4(SCN1A):c.2044-5del
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile)
|
rs1057518112
|
|
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs)
|
rs1689682880
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser)
|
rs797045940
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu)
|
rs121918235
|
|
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys)
|
rs747597620
|
|
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val)
|
rs375491094
|
|
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro)
|
rs796052260
|
|
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter)
|
rs1204010423
|
|
NM_001184.4(ATR):c.4153-21dup
|
rs112116713
|
|
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn)
|
rs1064794763
|
|
NM_001190274.2(FBXO11):c.2447-10T>C
|
|
|
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)
|
rs764333096
|
|
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)
|
rs1555418825
|
|
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)
|
|
|
NM_001195518.2(MICU1):c.40del (p.Ala14fs)
|
rs749124658
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001205293.3(CACNA1E):c.4816-19A>T
|
|
|
NM_001220.5(CAMK2B):c.414+16A>T
|
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001232.4(CASQ2):c.738-12_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-6_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-8_738-5del
|
rs56889721
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)
|
rs1064795534
|
|
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)
|
rs886041692
|
|
NM_001244710.2(GFPT1):c.2056-11del
|
rs201268947
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del)
|
rs759860918
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)
|
rs794729250
|
|
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs)
|
rs778172350
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
NM_001267550.2(TTN):c.156C>G (p.Pro52=)
|
rs72647842
|
|
NM_001267550.2(TTN):c.15775+1G>A
|
rs1353528319
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)
|
rs779549899
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
NM_001267550.2(TTN):c.2607T>C (p.Thr869=)
|
rs143969192
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[12]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[5]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
|
rs376922544
|
|
NM_001267550.2(TTN):c.2775+19G>T
|
rs199707799
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
NM_001267550.2(TTN):c.30683-19del
|
rs752002029
|
|
NM_001267550.2(TTN):c.30683-21_30683-19del
|
rs752002029
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)
|
rs768632287
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser)
|
rs55914517
|
|
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser)
|
rs727503635
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])
|
rs587780487
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.34453+14G>A
|
rs397517550
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)
|
rs199868380
|
|
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)
|
rs796478043
|
|
NM_001267550.2(TTN):c.39212-9C>A
|
rs373056460
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1])
|
rs139512154
|
|
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)
|
rs794729380
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)
|
rs373298007
|
|
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
|
|
|
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
|
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
NM_001267550.2(TTN):c.56051-7_56051-5del
|
rs774966673
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
NM_001267550.2(TTN):c.56963-19_56963-18delinsTC
|
rs2154190692
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
NM_001267550.2(TTN):c.57847+19del
|
rs111496283
|
|
NM_001267550.2(TTN):c.57847+7dup
|
rs111496283
|
|
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile)
|
rs562856820
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
NM_001267550.2(TTN):c.66161-12_66161-9del
|
rs758125069
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)
|
rs750298083
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)
|
rs572384303
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
NM_001267550.2(TTN):c.8231G>C (p.Gly2744Ala)
|
rs556908341
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)
|
rs11897366
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del)
|
rs754953607
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)
|
rs727505200
|
|
NM_001267550.2(TTN):c.9472-19del
|
rs201990196
|
|
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)
|
rs1553520323
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
NM_001276345.2(TNNT2):c.412-94del
|
rs35559054
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.851+5G>A
|
rs193922620
|
|
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)
|
rs730881116
|
|
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
|
|
|
NM_001278116.2(L1CAM):c.2750-6C>T
|
|
|
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs)
|
rs756807665
|
|
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)
|
rs1286857064
|
|
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
|
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His)
|
rs1569420470
|
|
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer)
|
rs1553400438
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly)
|
rs1601280230
|
|
NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn)
|
rs779190582
|
|
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs)
|
rs763305896
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001353345.2(SETD1B):c.5392C>T (p.Arg1798Cys)
|
rs2137589027
|
|
NM_001354712.2(THRB):c.1324A>G (p.Met442Val)
|
rs121918691
|
|
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)
|
rs750905761
|
|
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)
|
rs28999969
|
|
NM_001356.5(DDX3X):c.1227C>T (p.Gly409=)
|
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)
|
rs773134475
|
|
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)
|
rs80338862
|
|
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)
|
rs781687341
|
|
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)
|
rs80338864
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
NM_001360.3(DHCR7):c.355del (p.His119fs)
|
rs747827699
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)
|
rs143312232
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln)
|
rs181461079
|
|
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)
|
rs121908428
|
|
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)
|
rs775111365
|
|
NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=)
|
rs375793150
|
|
NM_001366110.1(PAX4):c.772-10T>C
|
|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.2130_2132delinsCCG (p.Pro711Arg)
|
|
|
NM_001369268.1(ACAN):c.5318T>C (p.Leu1773Pro)
|
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.654+18C>T
|
rs180737290
|
|
NM_001370259.2(MEN1):c.654+3A>T
|
rs1064793168
|
|
NM_001370259.2(MEN1):c.655-6C>T
|
rs77461664
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
NM_001371904.1(APOA5):c.162-8T>G
|
|
|
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp)
|
rs3135506
|
|
NM_001371904.1(APOA5):c.696C>G (p.Ser232=)
|
rs146781249
|
|
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys)
|
rs879254019
|
|
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)
|
rs1437320571
|
|
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter)
|
rs1553518593
|
|
NM_001378418.1(TCF20):c.4387G>A (p.Ala1463Thr)
|
|
|
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly)
|
rs1559603629
|
|
NM_001378454.1(ALMS1):c.10213+12G>A
|
rs527508238
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+17del
|
rs563514664
|
|
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
|
rs1671852270
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu)
|
rs138921247
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)
|
rs904289501
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs)
|
rs2103785778
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)
|
rs1553409691
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
|
|
|
NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys)
|
rs777158229
|
|
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His)
|
rs1064794798
|
|
NM_001379110.1(SLC9A6):c.-57+21del
|
rs782431608
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln)
|
rs1673967254
|
|
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs)
|
rs1572163072
|
|
NM_001379500.1(COL18A1):c.2869-8G>T
|
rs770714794
|
|
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3])
|
rs759403198
|
|
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)
|
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
|
|
|
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)
|
rs137852963
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)
|
rs1555788619
|
|
NM_001386795.1(DTNA):c.1744-10G>T
|
rs192561043
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
NM_001399.5(EDA):c.931T>C (p.Tyr311His)
|
rs1085307599
|
|
NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs)
|
rs746435041
|
|
NM_001447.3(FAT2):c.1277G>A (p.Arg426Lys)
|
|
|
NM_001447.3(FAT2):c.3337G>A (p.Gly1113Ser)
|
|
|
NM_001447.3(FAT2):c.5629T>C (p.Tyr1877His)
|
|
|
NM_001457.4(FLNB):c.2484+8G>T
|
rs759532391
|
|
NM_001457.4(FLNB):c.6367+7G>C
|
rs201871482
|
|
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)
|
rs1244824806
|
|
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)
|
rs794728021
|
|
NM_001643.2(APOA2):c.53-43TG[14]
|
rs17244502
|
|
NM_001643.2(APOA2):c.53-43TG[16]
|
rs17244502
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
NM_001643.2(APOA2):c.53-43TG[20]
|
rs17244502
|
|
NM_001673.5(ASNS):c.753_755del (p.Arg252del)
|
rs752897486
|
|
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del
|
rs886056273
|
|
NM_001711.6(BGN):c.1023C>G (p.Pro341=)
|
rs200711767
|
|
NM_001715.3(BLK):c.574C>G (p.Arg192Gly)
|
|
|
NM_001735.3(C5):c.4083A>G (p.Val1361=)
|
|
|
NM_001739.2(CA5A):c.767_774+13del
|
rs762768981
|
|
NM_001743.6(CALM2):c.286-18_286-17del
|
rs112882205
|
|
NM_001807.6(CEL):c.1776del (p.Val593fs)
|
rs193922638
|
|
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
|
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)
|
rs202153520
|
|
NM_001852.4(COL9A2):c.364-16A>G
|
rs1979785
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
|
|
NM_001854.4(COL11A1):c.2196+17T>C
|
|
|
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp)
|
rs778331804
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)
|
rs121912595
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)
|
rs778346264
|
|
NM_001909.5(CTSD):c.268del (p.Gln90fs)
|
rs752612332
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)
|
rs60216939
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met)
|
rs794728081
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)
|
|
|
NM_002055.5(GFAP):c.376C>T (p.Arg126Trp)
|
|
|
NM_002076.4(GNS):c.1098+1G>A
|
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
NM_002113.3(CFHR1):c.431-2A>G
|
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002230.4(JUP):c.708-3dup
|
rs782230165
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
NM_002317.7(LOX):c.73G>A (p.Ala25Thr)
|
|
|
NM_002351.5(SH2D1A):c.347-32_347-28del
|
rs200198093
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
NM_002382.5(MAX):c.37-15del
|
rs747340873
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002444.3(MSN):c.1222C>T (p.Arg408Trp)
|
rs748200741
|
|
NM_002470.4(MYH3):c.1960-5C>T
|
|
|
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs)
|
rs766768674
|
|
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter)
|
rs779530750
|
|
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)
|
rs61742472
|
|
NM_002471.4(MYH6):c.1131C>T (p.Asp377=)
|
rs61742472
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
NM_002471.4(MYH6):c.3979-10C>A
|
rs28730768
|
|
NM_002471.4(MYH6):c.3979-11C>G
|
rs200618133
|
|
NM_002471.4(MYH6):c.3979-11_3979-9delinsG
|
rs368229372
|
|
NM_002471.4(MYH6):c.3979-14C>A
|
rs372226248
|
|
NM_002471.4(MYH6):c.3979-3dup
|
rs770492637
|
|
NM_002471.4(MYH6):c.3979-7T>C
|
rs535111647
|
|
NM_002471.4(MYH6):c.3979-8C>G
|
rs555976716
|
|
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC
|
rs727503235
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
NM_002471.4(MYH6):c.3979-9C>G
|
rs57660219
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_002473.6(MYH9):c.2976+9C>T
|
|
|
NM_002474.3(MYH11):c.1575+8del
|
rs769321167
|
|
NM_002474.3(MYH11):c.3651+5_3651+11delinsG
|
rs371843272
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu)
|
rs151058774
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
NM_002474.3(MYH11):c.530+20C>T
|
rs780914854
|
|
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)
|
rs201960644
|
|
NM_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
NM_002500.5(NEUROD1):c.616dup (p.His206fs)
|
rs387906384
|
|
NM_002524.5(NRAS):c.112-24dup
|
rs780595451
|
|
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)
|
rs2101742052
|
|
NM_002524.5(NRAS):c.451-21_451-19del
|
rs754048062
|
|
NM_002691.4(POLD1):c.3218+9_3218+10inv
|
|
|
NM_002691.4(POLD1):c.463+6T>G
|
rs759315897
|
|
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)
|
rs371334941
|
|
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)
|
rs778429780
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.2862C>G (p.Ile954Met)
|
rs2152060967
|
|
NM_002693.3(POLG):c.3483-14T>C
|
rs587781119
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
|
NM_002734.5(PRKAR1A):c.441-5del
|
rs777677808
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)
|
rs397516792
|
|
NM_002769.4(PRSS1):c.-30_-28delTCC
|
rs386134264
|
|
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile)
|
rs193922655
|
|
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)
|
rs193922656
|
|
NM_002769.5(PRSS1):c.40+15C>T
|
rs760370254
|
|
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)
|
rs397507440
|
|
NM_002769.5(PRSS1):c.486T>C (p.Asp162=)
|
rs6666
|
|
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
|
rs111033566
|
|
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu)
|
rs587776446
|
|
NM_002834.5(PTPN11):c.-13G>A
|
rs760374212
|
|
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)
|
rs397507534
|
|
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)
|
rs397509344
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp)
|
rs775268017
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
NM_002878.4(RAD51D):c.904-12TTC[2]
|
rs779850240
|
|
NM_002878.4(RAD51D):c.904-2A>T
|
rs1403784434
|
|
NM_002880.4(RAF1):c.1108+9_1108+21del
|
rs727504451
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002880.4(RAF1):c.1629G>C (p.Thr543=)
|
rs5746244
|
|
NM_002880.4(RAF1):c.1668+10_1668+11del
|
rs730880997
|
|
NM_002880.4(RAF1):c.1668+19G>T
|
rs5746245
|
|
NM_002880.4(RAF1):c.1842G>A (p.Pro614=)
|
rs200235582
|
|
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)
|
rs3730271
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)
|
rs397516830
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs)
|
rs1554085861
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)
|
rs386134221
|
|
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)
|
rs386134223
|
|
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)
|
rs386134225
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)
|
rs121908890
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
|
|
|
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)
|
rs201262157
|
|
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)
|
rs386134207
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
|
|
|
NM_003172.4(SURF1):c.183_186del (p.Leu62fs)
|
rs1433471292
|
|
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
|
rs1588691786
|
|
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)
|
rs782289759
|
|
NM_003172.4(SURF1):c.631_632del (p.Glu211fs)
|
rs1554768333
|
|
NM_003172.4(SURF1):c.754_755del
|
rs782007828
|
|
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup)
|
rs782161777
|
|
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)
|
rs782488388
|
|
NM_003172.4(SURF1):c.833+1G>C
|
rs782609482
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003238.6(TGFB2):c.933-6del
|
rs11285412
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val)
|
rs863223853
|
|
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)
|
rs727504406
|
|
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys)
|
rs200769197
|
|
NM_003401.5(XRCC4):c.25del (p.His9fs)
|
rs869320677
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)
|
rs34391522
|
|
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)
|
rs1555988382
|
|
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro)
|
rs2145803751
|
|
NM_003590.5(CUL3):c.1377+1G>A
|
|
|
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs)
|
rs752784904
|
|
NM_003640.5(ELP1):c.1189+20G>A
|
rs999307275
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712
|
|
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
|
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)
|
rs886043807
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)
|
rs1559183717
|
|
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
|
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
|
|
|
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)
|
rs113994060
|
|
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)
|
rs200143780
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)
|
rs761018157
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
NM_004004.5(GJB2):c.[79G>A;341A>G]
|
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)
|
rs1275901105
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)
|
rs786204597
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004006.3(DMD):c.3433-20GTTT[2]
|
rs771258264
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
NM_004100.5(EYA4):c.103C>G (p.Leu35Val)
|
rs35562371
|
|
NM_004100.5(EYA4):c.580+14_580+16del
|
rs139659489
|
|
NM_004100.5(EYA4):c.925A>G (p.Thr309Ala)
|
rs556335059
|
|
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
|
rs1057518697
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)
|
rs35434411
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)
|
rs138827116
|
|
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)
|
rs781508063
|
|
NM_004329.3(BMPR1A):c.231-10dup
|
rs747206781
|
|
NM_004329.3(BMPR1A):c.231-9C>T
|
rs763313220
|
|
NM_004329.3(BMPR1A):c.430+10C>T
|
rs863224395
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)
|
rs121913341
|
|
NM_004333.6(BRAF):c.2128-16_2128-7del
|
rs766844227
|
|
NM_004333.6(BRAF):c.2128-27_2128-18del
|
rs774138098
|
|
NM_004333.6(BRAF):c.2128-5del
|
rs373442098
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
NM_004333.6(BRAF):c.608+19G>C
|
rs200908826
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
NM_004333.6(BRAF):c.826G>C (p.Val276Leu)
|
rs1057518105
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
NM_004333.6(BRAF):c.858T>G (p.Leu286=)
|
rs758553809
|
|
NM_004360.5(CDH1):c.-2C>T
|
rs1567470707
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1308G>A (p.Leu436=)
|
rs557551011
|
|
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)
|
rs139937234
|
|
NM_004360.5(CDH1):c.1530C>T (p.Ala510=)
|
rs1597898262
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
|
NM_004360.5(CDH1):c.1711+9G>C
|
rs368770384
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.2343A>G (p.Glu781=)
|
rs587780119
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu)
|
rs201511530
|
|
NM_004360.5(CDH1):c.69G>A (p.Gln23=)
|
rs786202657
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter)
|
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004415.4(DSP):c.1266+6G>T
|
rs73375345
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
NM_004415.4(DSP):c.2436+16A>G
|
rs199555263
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
NM_004415.4(DSP):c.6273del (p.Ala2092fs)
|
rs794728146
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)
|
rs1562969219
|
|
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
|
|
|
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)
|
rs1480647123
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)
|
rs121964956
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004525.3(LRP2):c.770-4dup
|
|
|
NM_004526.4(MCM2):c.53G>C (p.Arg18Pro)
|
|
|
NM_004565.3(PEX14):c.48T>C (p.Thr16=)
|
rs779545665
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)
|
rs2034990430
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys)
|
rs1057524497
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)
|
rs386833864
|
|
NM_004646.4(NPHS1):c.1275del (p.Lys426fs)
|
rs386833876
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)
|
rs386833892
|
|
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
|
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs)
|
rs386833921
|
|
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
|
rs778951863
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)
|
rs386833926
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter)
|
rs386833943
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter)
|
rs139598219
|
|
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)
|
rs1555763603
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)
|
rs34982899
|
|
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter)
|
rs781584590
|
|
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)
|
rs115931022
|
|
NM_004655.4(AXIN2):c.1338C>A (p.Val446=)
|
rs369864600
|
|
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=)
|
rs143243661
|
|
NM_004750.5(CRLF1):c.1212+17C>T
|
|
|
NM_004813.4(PEX16):c.956_958del (p.Pro319del)
|
rs754790425
|
|
NM_004859.4(CLTC):c.2562-6dup
|
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
NM_004958.4(MTOR):c.4687-3T>C
|
rs760066667
|
|
NM_004958.4(MTOR):c.7017-4A>G
|
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
NM_004985.5(KRAS):c.214A>T (p.Met72Leu)
|
rs727504662
|
|
NM_004985.5(KRAS):c.291-10del
|
rs727503991
|
|
NM_004985.5(KRAS):c.451-5604T>C
|
rs397517476
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)
|
rs372318863
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005159.5(ACTC1):c.129+18dup
|
rs148433308
|
|
NM_005159.5(ACTC1):c.809-58TG[16]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)
|
rs373212940
|
|
NM_005188.4(CBL):c.1228-10dup
|
rs397517078
|
|
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)
|
rs397507494
|
|
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala)
|
rs1229733932
|
|
NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del)
|
rs747062636
|
|
NM_005263.5(GFI1):c.925-40CT[13]
|
rs35896485
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)
|
rs587777699
|
|
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)
|
rs121912581
|
|
NM_005359.6(SMAD4):c.1140-10del
|
rs763877987
|
|
NM_005359.6(SMAD4):c.1447+9G>A
|
rs878854766
|
|
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro)
|
rs587782209
|
|
NM_005359.6(SMAD4):c.894del (p.Gly299fs)
|
rs2144429392
|
|
NM_005359.6(SMAD4):c.909T>G (p.Pro303=)
|
rs141149381
|
|
NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)
|
|
|
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)
|
rs1057516657
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
NM_005502.4(ABCA1):c.1312-16C>T
|
|
|
NM_005502.4(ABCA1):c.303-42_303-5dup
|
rs539194794
|
|
NM_005502.4(ABCA1):c.3104-5dup
|
rs746119307
|
|
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu)
|
rs763744498
|
|
NM_005502.4(ABCA1):c.4464+12T>C
|
|
|
NM_005502.4(ABCA1):c.4559+12C>T
|
|
|
NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=)
|
rs141980942
|
|
NM_005502.4(ABCA1):c.6309-4G>A
|
rs199562704
|
|
NM_005502.4(ABCA1):c.721-10del
|
|
|
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
|
|
|
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter)
|
rs118203899
|
|
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)
|
rs753268823
|
|
NM_005585.5(SMAD6):c.120C>T (p.Gly40=)
|
rs149612008
|
|
NM_005585.5(SMAD6):c.264C>G (p.Gly88=)
|
rs547033777
|
|
NM_005585.5(SMAD6):c.952+13del
|
rs761315842
|
|
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
|
rs148637964
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe)
|
rs73517551
|
|
NM_005591.4(MRE11):c.315-14dup
|
rs35062043
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|
NM_005619.5(RTN2):c.1381-5C>T
|
|
|
NM_005619.5(RTN2):c.938dup (p.Thr314fs)
|
rs748397131
|
|
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)
|
rs397515558
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys)
|
rs730881046
|
|
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val)
|
rs727505093
|
|
NM_005633.4(SOS1):c.2167+16del
|
rs79984786
|
|
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)
|
rs199856844
|
|
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp)
|
rs752395541
|
|
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr)
|
rs371408734
|
|
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu)
|
|
|
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)
|
rs1554098250
|
|
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup)
|
rs765370709
|
|
NM_005732.4(RAD50):c.756+7del
|
rs377720482
|
|
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile)
|
rs143306820
|
|
NM_005883.3(APC2):c.6551G>C (p.Arg2184Pro)
|
|
|
NM_005901.6(SMAD2):c.27G>A (p.Pro9=)
|
rs546743584
|
|
NM_005901.6(SMAD2):c.521-16del
|
rs143256118
|
|
NM_005901.6(SMAD2):c.999A>G (p.Gly333=)
|
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
|
|
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)
|
rs193922687
|
|
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
|
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly)
|
|
|
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)
|
rs1030084592
|
|
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn)
|
rs2873479
|
|
NM_006073.4(TRDN):c.1369+3dup
|
rs537388823
|
|
NM_006073.4(TRDN):c.1598-6dup
|
rs147062785
|
|
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)
|
rs545032318
|
|
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)
|
rs886041459
|
|
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)
|
rs1057521924
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)
|
rs1724342112
|
|
NM_006231.4(POLE):c.1924-23_1927del
|
rs1064795679
|
|
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)
|
rs5744800
|
|
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser)
|
rs5744800
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)
|
rs864622698
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
NM_006231.4(POLE):c.6765C>T (p.Ile2255=)
|
rs376336585
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006258.4(PRKG1):c.546G>A (p.Gly182=)
|
rs73336216
|
|
NM_006270.5(RRAS):c.54A>T (p.Gly18=)
|
rs571103858
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?)
|
rs77179853
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
|
rs1064794325
|
|
NM_006506.5(RASA2):c.12_32dup (p.Ala5_Ala11dup)
|
rs1194909078
|
|
NM_006506.5(RASA2):c.133+9G>A
|
rs1353085625
|
|
NM_006506.5(RASA2):c.1483+7G>A
|
|
|
NM_006506.5(RASA2):c.1549G>T (p.Val517Leu)
|
rs201190266
|
|
NM_006506.5(RASA2):c.535G>A (p.Ala179Thr)
|
|
|
NM_006506.5(RASA2):c.657G>A (p.Pro219=)
|
rs34238772
|
|
NM_006506.5(RASA2):c.684+15dup
|
rs769572165
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006618.5(KDM5B):c.1822-3C>T
|
|
|
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
|
|
|
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)
|
rs951372478
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_006662.3(SRCAP):c.6297+17C>T
|
|
|
NM_006734.4(HIVEP2):c.2076T>C (p.Cys692=)
|
|
|
NM_006734.4(HIVEP2):c.3420G>A (p.Ala1140=)
|
|
|
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)
|
rs121434638
|
|
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg)
|
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)
|
rs935736801
|
|
NM_006767.4(LZTR1):c.1339T>G (p.Phe447Val)
|
rs1312334046
|
|
NM_006767.4(LZTR1):c.1620T>C (p.His540=)
|
rs141610191
|
|
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
|
|
NM_006767.4(LZTR1):c.1785+13_1785+33dup
|
|
|
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)
|
rs770312150
|
|
NM_006767.4(LZTR1):c.1992G>A (p.Ala664=)
|
|
|
NM_006767.4(LZTR1):c.2070-15G>A
|
rs1601722962
|
|
NM_006767.4(LZTR1):c.2103C>G (p.Pro701=)
|
rs139080986
|
|
NM_006767.4(LZTR1):c.263+7_263+10del
|
rs765081424
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.26G>T (p.Gly9Val)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.320+13G>A
|
rs188924002
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
|
|
|
NM_006767.4(LZTR1):c.352del (p.Arg118fs)
|
rs1486960809
|
|
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del)
|
rs755783378
|
|
NM_006767.4(LZTR1):c.400+1G>C
|
rs1555927561
|
|
NM_006767.4(LZTR1):c.401-1G>C
|
rs747225246
|
|
NM_006767.4(LZTR1):c.628C>A (p.Arg210=)
|
rs150419186
|
|
NM_006767.4(LZTR1):c.651+10_651+46del
|
rs541944601
|
|
NM_006767.4(LZTR1):c.851G>A (p.Arg284His)
|
rs768361273
|
|
NM_006767.4(LZTR1):c.918G>A (p.Thr306=)
|
rs367738742
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
NM_006907.4(PYCR1):c.321G>A (p.Lys107=)
|
|
|
NM_006939.4(SOS2):c.1263T>C (p.Asn421=)
|
rs369267864
|
|
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser)
|
rs748632850
|
|
NM_006939.4(SOS2):c.2057+19_2057+20del
|
rs111970905
|
|
NM_006939.4(SOS2):c.2217G>A (p.Lys739=)
|
rs186110427
|
|
NM_006939.4(SOS2):c.3490-4del
|
rs10658395
|
|
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup)
|
rs765097073
|
|
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
|
rs775506222
|
|
NM_006939.4(SOS2):c.399A>C (p.Val133=)
|
rs144584870
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
NM_007055.4(POLR3A):c.1771-7C>G
|
rs201314157
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
NM_007078.3(LDB3):c.576G>A (p.Pro192=)
|
rs45543741
|
|
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
|
|
|
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
|
rs1747669042
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)
|
rs587781960
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.319+8C>A
|
rs776443322
|
|
NM_007194.4(CHEK2):c.474A>C (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.474A>G (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
NM_007194.4(CHEK2):c.907T>C (p.Leu303=)
|
rs752359705
|
|
NM_007215.4(POLG2):c.420del (p.Asp142fs)
|
rs1555669548
|
|
NM_007255.3(B4GALT7):c.277dup (p.His93fs)
|
rs879255634
|
|
NM_007289.4(MME):c.1400dup (p.Arg468fs)
|
rs751149568
|
|
NM_007294.4(BRCA1):c.1008A>G (p.Thr336=)
|
rs1060504568
|
|
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
|
rs886037985
|
|
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs)
|
rs1555592526
|
|
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)
|
rs80358325
|
|
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)
|
rs80357253
|
|
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)
|
rs80357163
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.134+1G>C
|
rs80358043
|
|
NM_007294.4(BRCA1):c.135-20T>G
|
rs80358025
|
|
NM_007294.4(BRCA1):c.135-23CTTT[2]
|
rs878854931
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=)
|
rs794726997
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala)
|
rs45564238
|
|
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg)
|
rs80357116
|
|
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.2295del (p.Ser766fs)
|
rs1567796243
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)
|
rs397507201
|
|
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)
|
rs397508967
|
|
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)
|
rs397508970
|
|
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2624del (p.Pro875fs)
|
rs2154368003
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
NM_007294.4(BRCA1):c.2964A>G (p.Ser988=)
|
rs1064796061
|
|
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys)
|
rs80357124
|
|
NM_007294.4(BRCA1):c.301+11A>C
|
rs1555596621
|
|
NM_007294.4(BRCA1):c.302-5T>C
|
rs778668665
|
|
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly)
|
rs80357190
|
|
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn)
|
rs757579891
|
|
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)
|
rs16941
|
|
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)
|
rs80356899
|
|
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)
|
rs80357297
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)
|
rs1555587638
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)
|
rs797044631
|
|
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr)
|
rs80357143
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe)
|
rs56055578
|
|
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys)
|
rs386833394
|
|
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
|
rs80357343
|
|
NM_007294.4(BRCA1):c.3975G>A (p.Arg1325=)
|
rs761424661
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
NM_007294.4(BRCA1):c.4185+10G>A
|
rs80358104
|
|
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4186-10G>A
|
rs80358172
|
|
NM_007294.4(BRCA1):c.423A>G (p.Glu141=)
|
rs777102216
|
|
NM_007294.4(BRCA1):c.426C>T (p.Pro142=)
|
rs542687218
|
|
NM_007294.4(BRCA1):c.42C>T (p.Val14=)
|
rs80356827
|
|
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4358-13A>G
|
rs1567780008
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)
|
rs876659614
|
|
NM_007294.4(BRCA1):c.4527C>T (p.Tyr1509=)
|
rs886040233
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=)
|
rs750938749
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys)
|
rs80357302
|
|
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro)
|
rs879254042
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys)
|
rs80356958
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5097G>A (p.Arg1699=)
|
rs2051927969
|
|
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)
|
rs397509227
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5152+7A>G
|
rs80358046
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp)
|
rs191373374
|
|
NM_007294.4(BRCA1):c.5193+3A>G
|
rs1060502326
|
|
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly)
|
rs80357270
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)
|
rs483353071
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5388A>G (p.Ser1796=)
|
rs373810778
|
|
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5407-4C>G
|
rs876660347
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.5468-10_5468-9del
|
rs273902770
|
|
NM_007294.4(BRCA1):c.547+14G>A
|
rs932782447
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>C
|
rs80358030
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)
|
rs1597796956
|
|
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=)
|
rs80356849
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.5564del (p.Ile1855fs)
|
rs1555574355
|
|
NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu)
|
rs765656957
|
|
NM_007294.4(BRCA1):c.671-12del
|
rs273902781
|
|
NM_007294.4(BRCA1):c.671-18_671-16del
|
rs398122354
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.81-13C>A
|
rs56328013
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_007294.4(BRCA1):c.933del (p.Gly312fs)
|
rs1135401839
|
|
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)
|
rs80357252
|
|
NM_007325.5(GRIA3):c.425G>A (p.Arg142His)
|
|
|
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)
|
rs797045047
|
|
NM_007373.4(SHOC2):c.1541-7del
|
rs371544139
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_007373.4(SHOC2):c.973-5del
|
rs730881016
|
|
NM_012062.5(DNM1L):c.251-5dup
|
rs1188011409
|
|
NM_012114.3(CASP14):c.462_463del (p.Asp154fs)
|
rs769277893
|
|
NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
|
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs)
|
rs1332257684
|
|
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter)
|
rs1383727273
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)
|
rs757203783
|
|
NM_013339.4(ALG6):c.908_910del (p.Cys303del)
|
rs1057517952
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_014000.3(VCL):c.120C>T (p.Leu40=)
|
rs144080529
|
|
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter)
|
rs202005455
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014000.3(VCL):c.622+4C>T
|
rs201020802
|
|
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)
|
rs2066044949
|
|
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)
|
rs1557115532
|
|
NM_014026.6(DCPS):c.574G>C (p.Glu192Gln)
|
rs139170738
|
|
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu)
|
rs138517537
|
|
NM_014225.6(PPP2R1A):c.1547T>C (p.Ile516Thr)
|
|
|
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)
|
rs2089686081
|
|
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)
|
rs1174228917
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup)
|
rs1064794627
|
|
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup)
|
rs775509290
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)
|
rs1555254439
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)
|
rs779385985
|
|
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly)
|
rs397517249
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
NM_014391.3(ANKRD1):c.346-21ATTT[2]
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-31_346-12del
|
rs750974250
|
|
NM_014391.3(ANKRD1):c.346-43AT[11]
|
rs60406118
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
NM_014391.3(ANKRD1):c.346-43AT[15]
|
rs60406118
|
|
NM_014391.3(ANKRD1):c.652-13del
|
rs3839929
|
|
NM_014625.4(NPHS2):c.452del
|
rs1250670041
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser)
|
rs147452416
|
|
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)
|
rs1553316799
|
|
NM_014946.4(SPAST):c.1537-11A>G
|
rs549538513
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
NM_015021.3(ZNF292):c.7003C>T (p.Arg2335Ter)
|
rs1168689294
|
|
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)
|
rs80358242
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)
|
rs1050220787
|
|
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs)
|
rs759648512
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)
|
rs144919978
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015909.4(NBAS):c.1361C>G (p.Pro454Arg)
|
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser)
|
rs111556571
|
|
NM_016139.4(CHCHD2):c.151C>T (p.Arg51Trp)
|
|
|
NM_016203.4(PRKAG2):c.1679-19A>T
|
rs200262620
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
NM_016363.5(GP6):c.932CCCTCCCGC[1] (p.308PLP[2])
|
|
|
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)
|
rs1484856529
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
NM_017547.4(FOXRED1):c.733+1G>A
|
|
|
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)
|
rs61751551
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=)
|
rs554843595
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)
|
rs375772590
|
|
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del)
|
rs878855029
|
|
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1])
|
rs113100797
|
|
NM_017668.3(NDE1):c.*388del
|
rs543763112
|
|
NM_017668.3(NDE1):c.948-4460_948-4457del
|
rs766943222
|
|
NM_017780.4(CHD7):c.2614-14del
|
rs748282026
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)
|
rs762710723
|
|
NM_018052.5(VAC14):c.947-2A>G
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
|
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)
|
|
|
NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu)
|
|
|
NM_018896.5(CACNA1G):c.3065-8C>T
|
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_019842.4(KCNQ5):c.1358C>T (p.Thr453Ile)
|
rs2150457602
|
|
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys)
|
rs1057520695
|
|
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
|
|
|
NM_020297.4(ABCC9):c.1165-6del
|
rs35857705
|
|
NM_020297.4(ABCC9):c.2238-17del
|
rs4148670
|
|
NM_020297.4(ABCC9):c.3669+4C>T
|
rs189565793
|
|
NM_020297.4(ABCC9):c.4450-5del
|
rs4148680
|
|
NM_020297.4(ABCC9):c.817-18del
|
rs199947733
|
|
NM_020297.4(ABCC9):c.817-7del
|
rs193922684
|
|
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
|
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)
|
rs797044817
|
|
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)
|
rs754097561
|
|
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)
|
rs797044824
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
NM_020778.5(ALPK3):c.423-19del
|
rs537375112
|
|
NM_020806.5(GPHN):c.127G>T (p.Val43Leu)
|
rs117256383
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)
|
rs1554818362
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.960C>T (p.Pro320=)
|
rs756761746
|
|
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)
|
rs749980819
|
|
NM_021628.3(ALOXE3):c.1559_1562+3dup
|
rs552323537
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)
|
rs369053765
|
|
NM_022114.4(PRDM16):c.-14C>A
|
rs180925565
|
|
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)
|
rs372189819
|
|
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=)
|
rs542618168
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)
|
rs762118583
|
|
NM_022124.6(CDH23):c.9199-4G>A
|
rs369900526
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)
|
rs72542426
|
|
NM_022436.3(ABCG5):c.501+11dup
|
rs200655485
|
|
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)
|
rs770103215
|
|
NM_022437.3(ABCG8):c.1128-4C>T
|
|
|
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)
|
rs4148217
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
NM_022437.3(ABCG8):c.1756+16G>A
|
|
|
NM_022437.3(ABCG8):c.1757-15G>A
|
|
|
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
|
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)
|
rs143697995
|
|
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg)
|
rs886037634
|
|
NM_024009.3(GJB3):c.196_198del (p.Asp66del)
|
rs786200895
|
|
NM_024105.4(ALG12):c.1156dup (p.Gln386fs)
|
rs770711819
|
|
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)
|
rs36007394
|
|
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
|
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
NM_024334.3(TMEM43):c.512+19G>T
|
rs114026215
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024422.6(DSC2):c.70-11del
|
rs572309510
|
|
NM_024422.6(DSC2):c.70-20G>A
|
rs374486794
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1881G>T (p.Val627=)
|
rs139362268
|
|
NM_024675.4(PALB2):c.212-10del
|
rs766487430
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.2607C>A (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.2616G>T (p.Val872=)
|
rs1567215519
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
NM_024675.4(PALB2):c.2964A>G (p.Gln988=)
|
rs777244673
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
NM_024675.4(PALB2):c.3202-8G>A
|
rs367979106
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn)
|
rs1050977100
|
|
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)
|
rs756005814
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)
|
rs768853291
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.6447del (p.Glu2149fs)
|
rs1157238971
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)
|
|
|
NM_025144.4(ALPK1):c.3538+15G>A
|
|
|
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter)
|
rs2145432318
|
|
NM_030662.4(MAP2K2):c.225C>T (p.Ile75=)
|
rs561400866
|
|
NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met)
|
rs200918323
|
|
NM_030662.4(MAP2K2):c.705+11G>A
|
rs202086678
|
|
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu)
|
rs201726622
|
|
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)
|
rs763469132
|
|
NM_030662.4(MAP2K2):c.919+10_919+12delinsAAG
|
rs1064794489
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser)
|
rs6094438
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
|
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=)
|
rs587780875
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2493-10T>A
|
rs776255327
|
|
NM_032043.3(BRIP1):c.387T>C (p.Pro129=)
|
rs779324498
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
NM_032043.3(BRIP1):c.508-8G>A
|
rs202074040
|
|
NM_032043.3(BRIP1):c.636C>A (p.Gly212=)
|
rs1057520255
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
NM_032119.4(ADGRV1):c.13048T>C (p.Ser4350Pro)
|
|
|
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=)
|
rs758546069
|
|
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln)
|
rs369341309
|
|
NM_032119.4(ADGRV1):c.7307T>G (p.Leu2436Arg)
|
|
|
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)
|
rs766244312
|
|
NM_032383.5(HPS3):c.887G>A (p.Arg296His)
|
|
|
NM_032387.5(WNK4):c.3593G>A (p.Arg1198His)
|
|
|
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)
|
rs148395034
|
|
NM_032856.5(WDR73):c.1132del (p.Arg378fs)
|
rs747109506
|
|
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser)
|
rs201432429
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
|
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs)
|
rs918473867
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_033109.5(PNPT1):c.2148+8G>C
|
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
NM_033380.3(COL4A5):c.1033-15del
|
rs104886089
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu)
|
rs281874689
|
|
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser)
|
rs2147982351
|
|
NM_033380.3(COL4A5):c.465+12A>T
|
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs)
|
rs753802842
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)
|
rs75967604
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
NM_053025.4(MYLK):c.4289-10dup
|
rs41431347
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|
NM_053025.4(MYLK):c.999G>T (p.Pro333=)
|
rs13319347
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)
|
rs1004492719
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.405-5G>A
|
rs1598459949
|
|
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)
|
rs397514662
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1935+17C>T
|
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
|
|
|
NM_133259.4(LRPPRC):c.2629+18A>G
|
rs572783698
|
|
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)
|
rs774857058
|
|
NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser)
|
rs200686732
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
|
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7734-27dup
|
rs201176305
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
|
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
NM_138927.4(SON):c.498G>A (p.Ala166=)
|
|
|
NM_138927.4(SON):c.78-9C>T
|
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu)
|
rs137876115
|
|
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)
|
rs370520589
|
|
NM_139076.3(ABRAXAS1):c.826_828del (p.Glu276del)
|
rs748475674
|
|
NM_139076.3(ABRAXAS1):c.88-7T>C
|
|
|
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)
|
rs193922716
|
|
NM_139276.3(STAT3):c.1365+143_1365+146del
|
rs143987966
|
|
NM_139276.3(STAT3):c.1365+146dup
|
rs143987966
|
|
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met)
|
rs193922719
|
|
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg)
|
rs2081548277
|
|
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile)
|
rs770986654
|
|
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)
|
rs193922721
|
|
NM_139319.3(SLC17A8):c.1426-18C>A
|
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144639.3(UROC1):c.709G>C (p.Glu237Gln)
|
rs150437149
|
|
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu)
|
rs757200771
|
|
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln)
|
rs200673370
|
|
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu)
|
rs200673370
|
|
NM_144670.6(A2ML1):c.2145del (p.Phe715fs)
|
rs759217676
|
|
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs)
|
rs560609581
|
|
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly)
|
rs199701571
|
|
NM_144670.6(A2ML1):c.3108-11T>C
|
|
|
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala)
|
rs565930773
|
|
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=)
|
|
|
NM_144670.6(A2ML1):c.4061+16G>A
|
rs200962359
|
|
NM_144670.6(A2ML1):c.462+19A>G
|
|
|
NM_144670.6(A2ML1):c.462+9GGA[2]
|
rs750639846
|
|
NM_144670.6(A2ML1):c.63-6del
|
rs1463624612
|
|
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)
|
rs141090506
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)
|
rs2144810362
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
|
|
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)
|
rs367543075
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)
|
rs1060499779
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152703.5(SAMD9L):c.1524A>G (p.Thr508=)
|
rs1248188387
|
|
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn)
|
rs1947184803
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_152906.7(TANGO2):c.56+122_56+131del
|
rs545147497
|
|
NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)
|
|
|
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)
|
rs760822872
|
|
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser)
|
rs146849758
|
|
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)
|
rs58528565
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
NM_172351.3(CD46):c.1082+2T>G
|
rs1184770295
|
|
NM_173076.3(ABCA12):c.1462C>T (p.Leu488=)
|
rs574023538
|
|
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro)
|
rs762065937
|
|
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
|
|
|
NM_174934.4(SCN4B):c.282G>A (p.Thr94=)
|
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
NM_174936.4(PCSK9):c.1504-5_1504-4del
|
rs755817854
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
|
|
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
|
|
|
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)
|
rs771978846
|
|
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)
|
rs1057519691
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
|
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.522C>T (p.Pro174=)
|
rs373018373
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)
|
rs1280663753
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_182760.4(SUMF1):c.*10_*11delinsGT
|
rs71623163
|
|
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
|
rs1421066733
|
|
NM_182760.4(SUMF1):c.279del (p.Ile94fs)
|
rs2125134167
|
|
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
|
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)
|
rs876661298
|
|
NM_182943.3(PLOD2):c.2122-2A>G
|
|
|
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)
|
rs190867671
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)
|
rs149766077
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
NM_183050.4(BCKDHB):c.633+1G>T
|
rs398124589
|
|
NM_183065.4(TMEM107):c.*696A>G
|
rs779456932
|
|
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)
|
rs550088634
|
|
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser)
|
rs749154761
|
|
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu)
|
rs150090360
|
|
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu)
|
|
|
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)
|
rs397515599
|
|
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter)
|
rs768415785
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198994.3(TGM6):c.1678+9A>T
|
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201596.3(CACNB2):c.1206+4_1206+7dup
|
rs1456201116
|
|
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp)
|
rs137886839
|
|
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.622T>C (p.Leu208=)
|
rs538160664
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)
|
rs908265742
|
|
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
|
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15465dup (p.Val5156fs)
|
rs769582796
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)
|
rs373938258
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
NR_003051.3(RMRP):n.-22_-3dup
|
rs1554651411
|
|
NR_003051.3(RMRP):n.-24_-18dup
|
rs1554651543
|
|
NR_003051.3(RMRP):n.-7_1dup
|
rs752934195
|
|
NR_003051.3(RMRP):n.147G>A
|
rs753874439
|
|
NR_003051.4(RMRP):n.52C>T
|
rs1064793373
|
|
STAT3:c.469-34_469-30del
|
rs140846959
|
|