NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter)
|
rs141784184
|
0.00584
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00031
|
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)
|
rs56307355
|
0.00028
|
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)
|
rs191759494
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)
|
rs771254375
|
0.00011
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
0.00008
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)
|
rs201249971
|
0.00005
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_000311.5(PRNP):c.538G>A (p.Val180Ile)
|
rs74315408
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser)
|
rs201835496
|
0.00003
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)
|
rs387906862
|
0.00002
|
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)
|
rs74475415
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)
|
rs57802288
|
0.00001
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del)
|
rs550565800
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)
|
rs1085307054
|
|
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser)
|
rs1085307078
|
|
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs)
|
rs886040154
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)
|
rs769235876
|
|
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)
|
rs1085307058
|
|