NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)
|
rs779248881
|
0.00037
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)
|
rs147455037
|
0.00010
|
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_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)
|
rs141045127
|
0.00006
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
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_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)
|
rs1157720606
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000146.4(FTL):c.1A>G (p.Met1Val)
|
rs139732572
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000169.3(GLA):c.596T>C (p.Val199Ala)
|
rs781871113
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>A
|
rs749271190
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp)
|
rs878854025
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu)
|
rs777321035
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)
|
rs201657455
|
0.00001
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr)
|
rs751225193
|
0.00001
|
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)
|
rs386833861
|
0.00001
|
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val)
|
rs386833934
|
0.00001
|
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)
|
rs1480919035
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)
|
rs371453512
|
0.00001
|
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys)
|
rs751459271
|
0.00001
|
NM_020451.3(SELENON):c.1501-1G>A
|
rs750138587
|
0.00001
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)
|
rs1018529334
|
|
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
|
rs1402090677
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)
|
rs879254897
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)
|
rs777188764
|
|
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)
|
rs1205480064
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp)
|
rs559239150
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)
|
rs137853964
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)
|
rs1876667856
|
|
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)
|
rs1554286384
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
|
|
|
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)
|
rs1451486649
|
|
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)
|
rs776753796
|
|
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)
|
rs745643715
|
|
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)
|
rs779027563
|
|
NM_004928.3(CFAP410):c.143+3A>T
|
|
|
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)
|
rs1911196248
|
|
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)
|
rs1569244190
|
|
NM_015629.4(PRPF31):c.1146+2T>G
|
rs2073971890
|
|
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)
|
rs531916765
|
|
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
|
|
|
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
|
rs387906926
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.873-2A>G
|
rs1176143542
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly)
|
rs1594865341
|
|
NM_173660.5(DOK7):c.533-2A>G
|
|
|
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)
|
rs1057519691
|
|
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)
|
rs369429452
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)
|
rs1211773372
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
Single allele
|
|
|