NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)
|
rs199473320
|
0.00041
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000335.5(SCN5A):c.496G>A (p.Ala166Thr)
|
rs201232332
|
0.00023
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)
|
rs199924281
|
0.00009
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg)
|
rs202226983
|
0.00009
|
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)
|
rs730882107
|
0.00008
|
NM_000540.3(RYR1):c.2251G>A (p.Val751Met)
|
rs767667578
|
0.00007
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)
|
rs767805554
|
0.00007
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)
|
rs186300062
|
0.00006
|
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)
|
rs755476114
|
0.00006
|
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)
|
rs200646947
|
0.00006
|
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)
|
rs202120583
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00006
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)
|
rs35521793
|
0.00005
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)
|
rs747238231
|
0.00004
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)
|
rs758280185
|
0.00004
|
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)
|
rs201050937
|
0.00004
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)
|
rs137854603
|
0.00003
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
NM_005902.4(SMAD3):c.981C>G (p.His327Gln)
|
rs780274581
|
0.00003
|
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)
|
rs774511818
|
0.00002
|
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)
|
rs199473193
|
0.00002
|
NM_000335.5(SCN5A):c.436G>A (p.Val146Met)
|
rs199473061
|
0.00002
|
NM_000527.5(LDLR):c.2307C>G (p.His769Gln)
|
rs760479588
|
0.00002
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg)
|
rs755924969
|
0.00002
|
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile)
|
rs773543026
|
0.00002
|
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)
|
rs2277447
|
0.00001
|
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)
|
rs1356510559
|
0.00001
|
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)
|
rs760441649
|
0.00001
|
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)
|
rs756438139
|
0.00001
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
NM_000335.5(SCN5A):c.4812C>T (p.Gly1604=)
|
rs773016454
|
0.00001
|
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)
|
rs780115763
|
0.00001
|
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu)
|
rs201967266
|
0.00001
|
NM_000527.5(LDLR):c.68-9C>G
|
rs1284807471
|
0.00001
|
NM_005902.4(SMAD3):c.597C>T (p.Ser199=)
|
rs769225687
|
0.00001
|
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser)
|
rs150682850
|
0.00001
|
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)
|
rs751604155
|
|
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)
|
rs199989324
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
NM_000169.3(GLA):c.802-10T>G
|
rs1928176118
|
|
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)
|
rs752130196
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
NM_000335.5(SCN5A):c.1891-8G>C
|
rs12720064
|
|
NM_000335.5(SCN5A):c.2103G>T (p.Pro701=)
|
|
|
NM_000335.5(SCN5A):c.331T>C (p.Leu111=)
|
|
|
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val)
|
rs41311117
|
|
NM_000335.5(SCN5A):c.704-14C>A
|
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)
|
rs755799702
|
|
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1846-9C>A
|
rs1568610732
|
|
NM_000527.5(LDLR):c.191-15C>G
|
rs749245318
|
|
NM_000527.5(LDLR):c.2141-7C>A
|
rs2147272729
|
|
NM_000527.5(LDLR):c.695-10T>G
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000540.3(RYR1):c.9123-14T>G
|
rs2145659049
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
NM_004612.4(TGFBR1):c.1131-8T>G
|
rs1827799094
|
|
NM_004612.4(TGFBR1):c.574+7_574+8del
|
|
|
NM_005902.4(SMAD3):c.401-11C>A
|
rs1962548669
|
|
NM_005902.4(SMAD3):c.659-12del
|
|
|