NM_005866.4(SIGMAR1):c.*31A>G
|
rs4879809
|
0.98825
|
NM_002185.5(IL7R):c.412G>A (p.Val138Ile)
|
rs1494555
|
0.72524
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
NM_016816.4(OAS1):c.484G>A (p.Gly162Ser)
|
rs1131454
|
0.47874
|
NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val)
|
rs203462
|
0.43766
|
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln)
|
rs2286963
|
0.27207
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000249.3(MLH1):c.-93G>A
|
rs1800734
|
0.22121
|
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)
|
rs5030732
|
0.15471
|
NM_000361.3(THBD):c.1418C>T (p.Ala473Val)
|
rs1042579
|
0.15009
|
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp)
|
rs4253527
|
0.10197
|
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala)
|
rs7014851
|
0.08773
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_000022.4(ADA):c.239A>G (p.Lys80Arg)
|
rs11555566
|
0.05947
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02976
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_006433.5(GNLY):c.11G>A (p.Trp4Ter)
|
rs10181739
|
0.02612
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)
|
rs72470544
|
0.01709
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
NM_002273.4(KRT8):c.160T>C (p.Tyr54His)
|
rs57749775
|
0.00715
|
NM_017841.4(SDHAF2):c.*12C>T
|
rs113652589
|
0.00617
|
NM_001032283.3(TMPO):c.565+2487C>T
|
rs17028450
|
0.00576
|
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)
|
rs11554495
|
0.00545
|
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)
|
rs121917710
|
0.00511
|
NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)
|
rs34595252
|
0.00461
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)
|
rs35703638
|
0.00326
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)
|
rs121917810
|
0.00274
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)
|
rs72470545
|
0.00231
|
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met)
|
rs121434235
|
0.00230
|
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)
|
rs150681845
|
0.00170
|
NM_000533.5(PLP1):c.-31C>T
|
rs2233695
|
0.00152
|
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp)
|
rs119465999
|
0.00150
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)
|
rs72554071
|
0.00121
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile)
|
rs149614835
|
0.00118
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)
|
rs140506267
|
0.00108
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
|
rs1800014
|
0.00092
|
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)
|
rs28937880
|
0.00079
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
NM_001375883.1(GPR161):c.-5T>A
|
rs200635937
|
0.00028
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)
|
rs121908918
|
0.00004
|
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)
|
rs201936720
|
0.00002
|
Multiple alleles
|
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_001437.3(ESR2):c.541_543del (p.Asn181del)
|
rs750091675
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|