NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)
|
rs149977726
|
0.00010
|
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)
|
rs138444697
|
0.00010
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)
|
rs104894043
|
0.00006
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)
|
rs119103284
|
0.00003
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)
|
rs1064792861
|
0.00001
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)
|
rs281865026
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)
|
rs199476187
|
0.00001
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000096.4(CP):c.848G>C (p.Trp283Ser)
|
rs386134126
|
|
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)
|
rs137852889
|
|
NM_000158.4(GBE1):c.691+5G>C
|
rs397515344
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)
|
rs118204034
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)
|
rs786205098
|
|
NM_001953.5(TYMP):c.1301-1G>A
|
rs773785934
|
|
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)
|
rs1064792872
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)
|
rs121917879
|
|
NM_018965.4(TREM2):c.40+4_40+6del
|
rs386834142
|
|
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)
|
rs121908138
|
|
NM_024649.5(BBS1):c.1340-2A>G
|
rs113994180
|
|
Single allele
|
|
|