NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter)
|
rs3211938
|
0.02669
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)
|
rs114583297
|
0.00817
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)
|
rs61742739
|
0.00531
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)
|
rs41295338
|
0.00428
|
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu)
|
rs34035085
|
0.00401
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000504.4(F10):c.424G>A (p.Glu142Lys)
|
rs61753266
|
0.00347
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_004771.4(MMP20):c.954-2A>T
|
rs140213840
|
0.00224
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_003060.4(SLC22A5):c.-149G>A
|
rs57262206
|
0.00144
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)
|
rs138994150
|
0.00103
|
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)
|
rs141471029
|
0.00100
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)
|
rs121908736
|
0.00081
|
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
|
rs138269726
|
0.00078
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe)
|
rs121912502
|
0.00076
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)
|
rs144321760
|
0.00071
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)
|
rs200038418
|
0.00064
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)
|
rs202085145
|
0.00057
|
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)
|
rs71454844
|
0.00057
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys)
|
rs149039053
|
0.00049
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
|
rs201907325
|
0.00042
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_012073.5(CCT5):c.440A>G (p.His147Arg)
|
rs118203986
|
0.00040
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)
|
rs546442503
|
0.00039
|
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)
|
rs121912553
|
0.00038
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln)
|
rs137853118
|
0.00032
|
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)
|
rs138768918
|
0.00029
|
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)
|
rs104894493
|
0.00029
|
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)
|
rs199873582
|
0.00027
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala)
|
rs141905538
|
0.00025
|
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys)
|
rs104894766
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000163.5(GHR):c.718T>C (p.Tyr240His)
|
rs143814221
|
0.00024
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys)
|
rs137853095
|
0.00024
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)
|
rs200412910
|
0.00022
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00022
|
NM_001385.3(DPYS):c.1469G>A (p.Arg490His)
|
rs189448963
|
0.00021
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)
|
rs104893965
|
0.00019
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_001319074.4(RAX2):c.260G>A (p.Arg87Gln)
|
rs121908280
|
0.00019
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00019
|
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)
|
rs140159323
|
0.00019
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)
|
rs946898300
|
0.00018
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)
|
rs56381858
|
0.00017
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)
|
rs144598063
|
0.00014
|
NM_001298.3(CNGA3):c.101+1G>A
|
rs147118493
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)
|
rs747380397
|
0.00013
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro)
|
rs121908066
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_000618.5(IGF1):c.*265T>A
|
rs771502062
|
0.00012
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_002381.5(MATN3):c.209G>A (p.Arg70His)
|
rs104893640
|
0.00012
|
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)
|
rs121908487
|
0.00012
|
NM_019844.4(SLCO1B3):c.971-2A>G
|
rs140033394
|
0.00012
|
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)
|
rs113994022
|
0.00012
|
NM_000187.4(HGD):c.752G>A (p.Gly251Asp)
|
rs781011621
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter)
|
rs200818962
|
0.00011
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser)
|
rs104894436
|
0.00010
|
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)
|
rs201632198
|
0.00010
|
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)
|
rs149096315
|
0.00010
|
NM_004994.3(MMP9):c.2T>A (p.Met1Lys)
|
rs121434556
|
0.00010
|
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073
|
0.00010
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr)
|
rs139008774
|
0.00009
|
NM_020297.4(ABCC9):c.1320+1G>A
|
rs139620148
|
0.00009
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)
|
rs138329739
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter)
|
rs368697251
|
0.00008
|
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)
|
rs761622978
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
NM_001002294.3(FMO3):c.1302G>A (p.Met434Ile)
|
rs72549332
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)
|
rs141559558
|
0.00007
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs)
|
rs772578397
|
0.00007
|
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter)
|
rs375682284
|
0.00007
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)
|
rs375399468
|
0.00006
|
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)
|
rs121918619
|
0.00006
|
NM_001099287.2(NIPAL4):c.277+5G>A
|
rs376074083
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)
|
rs117830543
|
0.00006
|
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg)
|
rs267606766
|
0.00006
|
NM_001414.4(EIF2B1):c.252+1G>A
|
rs113994006
|
0.00006
|
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)
|
rs756205397
|
0.00006
|
NM_006005.3(WFS1):c.1836G>A (p.Trp612Ter)
|
rs775158434
|
0.00006
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
NM_031433.4(MFRP):c.642-2A>G
|
rs376898612
|
0.00006
|
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter)
|
rs201707868
|
0.00006
|
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)
|
rs74315449
|
0.00006
|
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter)
|
rs199892192
|
0.00006
|
NM_181507.2(HPS5):c.285-10A>G
|
rs200449378
|
0.00006
|
NM_198407.2(GHSR):c.709A>T (p.Arg237Trp)
|
rs199588904
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)
|
rs1051249273
|
0.00005
|
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln)
|
rs750195772
|
0.00005
|
NM_004994.3(MMP9):c.1764G>A (p.Trp588Ter)
|
rs200746714
|
0.00005
|
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)
|
rs121909340
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys)
|
rs779942952
|
0.00004
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00004
|
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr)
|
rs121434576
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
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_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
|
rs137854608
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)
|
rs367797185
|
0.00004
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00004
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_002187.3(IL12B):c.660T>A (p.Tyr220Ter)
|
rs748215576
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr)
|
rs202197769
|
0.00004
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)
|
rs200197424
|
0.00004
|
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)
|
rs137852637
|
0.00004
|
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)
|
rs137853944
|
0.00004
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs)
|
rs587783393
|
0.00004
|
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)
|
rs75459701
|
0.00004
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
NM_024596.5(MCPH1):c.322-1G>C
|
rs201721894
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
|
rs748656635
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_201548.5(CERKL):c.950G>A (p.Arg317His)
|
rs150587104
|
0.00004
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)
|
rs199476185
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val)
|
rs121434571
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000215.4(JAK3):c.2680+3G>C
|
rs749481781
|
0.00003
|
NM_000246.4(CIITA):c.2888+1G>A
|
rs372826934
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly)
|
rs773162208
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg)
|
rs753558336
|
0.00003
|
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)
|
rs146158333
|
0.00003
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
0.00003
|
NM_001145165.2(DOHH):c.668C>T (p.Pro223Leu)
|
rs1031622115
|
0.00003
|
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)
|
rs777829351
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)
|
rs139624629
|
0.00003
|
NM_004082.5(DCTN1):c.414+1G>A
|
rs576198476
|
0.00003
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)
|
rs199894905
|
0.00003
|
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter)
|
rs746960051
|
0.00003
|
NM_016327.3(UPB1):c.899C>T (p.Ser300Leu)
|
rs762081192
|
0.00003
|
NM_018451.5(CENPJ):c.2704C>T (p.Arg902Ter)
|
rs374057641
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_213599.3(ANO5):c.2176dup (p.Ser726fs)
|
rs797044667
|
0.00003
|
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)
|
rs119450943
|
0.00002
|
NM_000049.4(ASPA):c.237-2A>T
|
rs780936696
|
0.00002
|
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)
|
rs749626601
|
0.00002
|
NM_000094.4(COL7A1):c.7068+5G>A
|
rs779875751
|
0.00002
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000128.4(F11):c.325G>A (p.Ala109Thr)
|
rs768474112
|
0.00002
|
NM_000145.4(FSHR):c.479T>C (p.Ile160Thr)
|
rs121909659
|
0.00002
|
NM_000153.4(GALC):c.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn)
|
rs375357230
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)
|
rs758004953
|
0.00002
|
NM_000342.3(SLC4A1):c.-62G>A
|
rs387906565
|
0.00002
|
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys)
|
rs779426136
|
0.00002
|
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)
|
rs62645942
|
0.00002
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)
|
rs137853246
|
0.00002
|
NM_001003722.2(GLE1):c.397C>T (p.Arg133Ter)
|
rs374673335
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=)
|
rs778207666
|
0.00002
|
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)
|
rs574359460
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys)
|
rs387907277
|
0.00002
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
NM_003235.5(TG):c.2359C>T (p.Arg787Ter)
|
rs752966476
|
0.00002
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)
|
rs767249944
|
0.00002
|
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)
|
rs121912618
|
0.00002
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)
|
rs1470124674
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_015915.5(ATL1):c.622C>T (p.Pro208Ser)
|
rs147839037
|
0.00002
|
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)
|
rs780124402
|
0.00002
|
NM_020041.3(SLC2A9):c.511C>T (p.Arg171Cys)
|
rs776127501
|
0.00002
|
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter)
|
rs1030149008
|
0.00002
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00002
|
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter)
|
rs764186203
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter)
|
rs777160388
|
0.00002
|
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)
|
rs758304537
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)
|
rs886052955
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000178.4(GSS):c.754C>T (p.Arg252Ter)
|
rs749741013
|
0.00001
|
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)
|
rs118204113
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)
|
rs547709692
|
0.00001
|
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)
|
rs397516253
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000293.3(PHKB):c.522del (p.Val175fs)
|
rs1242540921
|
0.00001
|
NM_000303.3(PMM2):c.284del (p.Leu95fs)
|
rs757865122
|
0.00001
|
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter)
|
rs766114836
|
0.00001
|
NM_000312.4(PROC):c.400+5G>C
|
rs199469478
|
0.00001
|
NM_000312.4(PROC):c.629C>T (p.Pro210Leu)
|
rs121918145
|
0.00001
|
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His)
|
rs121912697
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000375.3(UROS):c.244G>T (p.Val82Phe)
|
rs121908016
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys)
|
rs1374504617
|
0.00001
|
NM_000505.4(F12):c.158A>G (p.Tyr53Cys)
|
rs118204455
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_000530.8(MPZ):c.431del (p.Leu144fs)
|
rs1182353109
|
0.00001
|
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys)
|
rs201465595
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000553.6(WRN):c.3130dup (p.Thr1044fs)
|
rs1563376595
|
0.00001
|
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp)
|
rs121918365
|
0.00001
|
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met)
|
rs121918618
|
0.00001
|
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)
|
rs756868889
|
0.00001
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter)
|
rs769881615
|
0.00001
|
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp)
|
rs886062372
|
0.00001
|
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)
|
rs1280185461
|
0.00001
|
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln)
|
rs1028050037
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001277115.2(DNAH11):c.10691+2T>C
|
rs886039341
|
0.00001
|
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp)
|
rs770961534
|
0.00001
|
NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu)
|
rs780088227
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter)
|
rs747862347
|
0.00001
|
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter)
|
rs776004614
|
0.00001
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002185.5(IL7R):c.83-2A>T
|
rs886060531
|
0.00001
|
NM_003235.5(TG):c.638+5G>A
|
rs774274702
|
0.00001
|
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter)
|
rs778357787
|
0.00001
|
NM_003730.6(RNASET2):c.567G>A (p.Gln189=)
|
rs1191342507
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004211.5(SLC6A5):c.2070+1G>A
|
rs770660705
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004999.4(MYO6):c.647A>T (p.Glu216Val)
|
rs121912559
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn)
|
rs104894485
|
0.00001
|
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter)
|
rs759220039
|
0.00001
|
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys)
|
rs367863044
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)
|
rs373044722
|
0.00001
|
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr)
|
rs121908565
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)
|
rs398122839
|
0.00001
|
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
|
rs770731272
|
0.00001
|
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter)
|
rs778457903
|
0.00001
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)
|
rs149998588
|
0.00001
|
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)
|
rs772050241
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)
|
rs121908451
|
0.00001
|
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp)
|
rs121918277
|
0.00001
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)
|
rs745597204
|
0.00001
|
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)
|
rs104893743
|
0.00001
|
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe)
|
rs1204316787
|
0.00001
|
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp)
|
rs28941781
|
0.00001
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp)
|
rs767352854
|
0.00001
|
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg)
|
rs755799430
|
0.00001
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
NM_207352.4(CYP4V2):c.380T>A (p.Leu127Ter)
|
rs1228072399
|
0.00001
|
NM_213653.4(HJV):c.976C>T (p.Arg326Ter)
|
rs74315324
|
0.00001
|
NC_012920.1(MT-ATP6):m.9035T>C
|
rs1603222000
|
|
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
|
rs200754053
|
|
NM_000017.4(ACADS):c.910dup (p.Leu304fs)
|
rs1057516606
|
|
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)
|
rs2071337130
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
|
rs1345677703
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000073.3(CD3G):c.213del (p.Lys71fs)
|
rs570768621
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)
|
rs1554095397
|
|
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs)
|
rs886047037
|
|
NM_000128.4(F11):c.1325del (p.Leu442fs)
|
rs757530565
|
|
NM_000129.4(F13A1):c.782G>A (p.Arg261His)
|
rs121913071
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)
|
rs398123223
|
|
NM_000178.4(GSS):c.4del (p.Ala2fs)
|
rs752560204
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter)
|
rs1568883795
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000282.4(PCCA):c.615dup (p.Val206fs)
|
rs1566767338
|
|
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)
|
rs921982028
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter)
|
rs767712946
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)
|
rs200206252
|
|
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)
|
rs1064793011
|
|
NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer)
|
rs1557770132
|
|
NM_000350.3(ABCA4):c.5312+3A>T
|
rs767451031
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro)
|
rs761867791
|
|
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter)
|
rs1456983114
|
|
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
|
rs72547554
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)
|
rs786205465
|
|
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter)
|
rs151179377
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
NM_000431.4(MVK):c.277_283del (p.Glu93fs)
|
rs104895369
|
|
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter)
|
rs768711214
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)
|
rs199476387
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000504.4(F10):c.160G>A (p.Glu54Lys)
|
rs121964939
|
|
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn)
|
rs879254420
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000540.3(RYR1):c.177del (p.Asp60fs)
|
rs756326114
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter)
|
rs398122935
|
|
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)
|
rs1567053134
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)
|
rs140599944
|
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
|
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)
|
rs386833731
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)
|
rs751484879
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001130987.2(DYSF):c.410del (p.Pro137fs)
|
rs886043342
|
|
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala)
|
rs1977158385
|
|
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)
|
rs1562220891
|
|
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)
|
rs1559940778
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs)
|
rs1296037862
|
|
NM_001182.5(ALDH7A1):c.244del (p.Gln82fs)
|
rs1317880376
|
|
NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln)
|
rs1603384499
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs)
|
rs774604740
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter)
|
rs773498002
|
|
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)
|
rs1554169984
|
|
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys)
|
rs120074164
|
|
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)
|
rs949177
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)
|
rs1565317399
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)
|
rs768980918
|
|
NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His)
|
rs387906658
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)
|
rs387906863
|
|
NM_003748.4(ALDH4A1):c.866+1G>A
|
rs78532707
|
|
NM_003849.4(SUCLG1):c.152_153del (p.Tyr51fs)
|
rs1308442327
|
|
NM_003863.4(DPM2):c.37del (p.Leu13fs)
|
rs1349389319
|
|
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs)
|
rs773312108
|
|
NM_004273.5(CHST3):c.512_513del (p.Thr171fs)
|
rs1564532120
|
|
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)
|
rs752088918
|
|
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer)
|
rs886058705
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
NM_005198.5(CHKB):c.565_568del (p.Phe189fs)
|
rs752436924
|
|
NM_005199.5(CHRNG):c.518dup (p.Tyr173Ter)
|
rs1559303793
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)
|
rs143766249
|
|
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer)
|
rs863224264
|
|
NM_006182.4(DDR2):c.2219A>G (p.Tyr740Cys)
|
rs1558081627
|
|
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)
|
rs1563018529
|
|
NM_006348.5(COG5):c.81del (p.Glu27fs)
|
rs777937112
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile)
|
rs377244188
|
|
NM_006432.5(NPC2):c.332del (p.Asn111fs)
|
rs80358265
|
|
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser)
|
rs759448571
|
|
NM_007103.4(NDUFV1):c.753_756del (p.Pro252fs)
|
rs1229474296
|
|
NM_007375.4(TARDBP):c.*697G>A
|
rs387906334
|
|
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs)
|
rs749534144
|
|
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs)
|
rs1290655316
|
|
NM_012213.3(MLYCD):c.475del (p.Ala159fs)
|
rs796051991
|
|
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs)
|
rs769220870
|
|
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
|
rs386834005
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015627.3(LDLRAP1):c.487C>T (p.Gln163Ter)
|
rs1057515537
|
|
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys)
|
rs749465098
|
|
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter)
|
rs779445819
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)
|
rs1293528130
|
|
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter)
|
rs142865061
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)
|
rs772429581
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
NM_022370.4(ROBO3):c.571dup (p.Arg191fs)
|
rs756837590
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
NM_024747.6(HPS6):c.238dup (p.Asp80fs)
|
rs281865108
|
|
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del)
|
rs730882178
|
|
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs)
|
rs312262730
|
|
NM_025137.4(SPG11):c.6021del (p.Tyr2008fs)
|
rs886051179
|
|
NM_032634.4(PIGO):c.589_590del (p.Pro197fs)
|
rs763591247
|
|
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)
|
rs560867570
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_170707.4(LMNA):c.1003del (p.Arg335fs)
|
rs1553265660
|
|
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)
|
rs11575937
|
|
NM_177965.4(CFAP418):c.16_19del (p.Asp6fs)
|
rs1563477343
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)
|
rs766499430
|
|
NM_182961.4(SYNE1):c.25119+1G>A
|
rs1164612098
|
|
NM_183065.4(TMEM107):c.*718G>A
|
rs201686383
|
|
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter)
|
rs768415785
|
|
NM_203486.3(DLL3):c.395del (p.Gly132fs)
|
rs761454301
|
|
NM_203486.3(DLL3):c.602del (p.Gly201fs)
|
rs1293908408
|
|
NM_203486.3(DLL3):c.618del (p.Cys207fs)
|
rs786200902
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_207352.4(CYP4V2):c.802-8_810delinsGC
|
rs207482233
|
|
Single allele
|
|
|