NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
NM_020435.4(GJC2):c.108C>T (p.Ile36=)
|
rs75469429
|
0.01203
|
NM_020435.4(GJC2):c.445G>A (p.Gly149Ser)
|
rs577325764
|
0.00260
|
NM_002156.5(HSPD1):c.561T>C (p.Ser187=)
|
rs141357756
|
0.00155
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_002156.5(HSPD1):c.1681A>G (p.Met561Val)
|
rs371969794
|
0.00026
|
NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val)
|
rs374322039
|
0.00023
|
NM_002156.5(HSPD1):c.871C>G (p.Leu291Val)
|
rs139649754
|
0.00023
|
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)
|
rs375288744
|
0.00006
|
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys)
|
rs1031720654
|
0.00005
|
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr)
|
rs1330596542
|
0.00002
|
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)
|
rs752127949
|
0.00001
|
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)
|
rs724159969
|
0.00001
|
NM_002156.5(HSPD1):c.947T>C (p.Met316Thr)
|
rs528363238
|
0.00001
|
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)
|
rs886041240
|
0.00001
|
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser)
|
rs74315312
|
0.00001
|
NM_020435.4(GJC2):c.718C>T (p.Arg240Ter)
|
rs74315313
|
0.00001
|
NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp)
|
rs74315314
|
0.00001
|
NM_001142416.2(AIMP1):c.162del (p.Lys54fs)
|
rs750731609
|
|
NM_001142416.2(AIMP1):c.191_192del (p.Gln64fs)
|
|
|
NM_001142416.2(AIMP1):c.223G>C (p.Val75Leu)
|
|
|
NM_001142416.2(AIMP1):c.292_293del (p.Gln98fs)
|
rs387906865
|
|
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter)
|
rs879253867
|
|
NM_001142416.2(AIMP1):c.359A>G (p.Glu120Gly)
|
|
|
NM_001142416.2(AIMP1):c.716T>C (p.Leu239Ser)
|
|
|
NM_001142416.2(AIMP1):c.7AAT[1] (p.Asn4del)
|
rs769350799
|
|
NM_001142416.2(AIMP1):c.800AGA[2] (p.Lys269del)
|
|
|
NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly)
|
rs1344482241
|
|
NM_002156.5(HSPD1):c.1257C>A (p.Asp419Glu)
|
|
|
NM_002156.5(HSPD1):c.1394_1406del (p.Ile465fs)
|
rs2086047405
|
|
NM_002156.5(HSPD1):c.139T>G (p.Leu47Val)
|
rs2086193735
|
|
NM_002156.5(HSPD1):c.445G>C (p.Asp149His)
|
rs781225976
|
|
NM_002156.5(HSPD1):c.86A>G (p.Asp29Gly)
|
rs72466451
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro)
|
rs1564617866
|
|
NM_020435.3(GJC2):c.-167A>G
|
rs587776888
|
|
NM_020435.3(GJC2):c.-170A>G
|
rs587777496
|
|
NM_020435.4(GJC2):c.104G>A (p.Arg35His)
|
|
|
NM_020435.4(GJC2):c.107del (p.Ile36fs)
|
rs1571907430
|
|
NM_020435.4(GJC2):c.1096dup (p.Asp366fs)
|
rs1391047082
|
|
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)
|
rs1571908452
|
|
NM_020435.4(GJC2):c.1155del (p.Arg386fs)
|
rs1196278287
|
|
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys)
|
rs1356633840
|
|
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)
|
rs1302747902
|
|
NM_020435.4(GJC2):c.193_195del (p.Asn65del)
|
rs1558119525
|
|
NM_020435.4(GJC2):c.219_220del (p.Leu74fs)
|
rs2124966088
|
|
NM_020435.4(GJC2):c.254T>C (p.Val85Ala)
|
rs2124966117
|
|
NM_020435.4(GJC2):c.293C>A (p.Ala98Asp)
|
|
|
NM_020435.4(GJC2):c.371_392dup (p.His132fs)
|
rs2124966280
|
|
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)
|
rs779077705
|
|
NM_020435.4(GJC2):c.472_481dup (p.Ala161fs)
|
rs2124966375
|
|
NM_020435.4(GJC2):c.49dup (p.His17fs)
|
rs2034704908
|
|
NM_020435.4(GJC2):c.571_572insG (p.Thr191fs)
|
rs2034716505
|
|
NM_020435.4(GJC2):c.575dup (p.Thr195fs)
|
rs1064795865
|
|
NM_020435.4(GJC2):c.62C>T (p.Thr21Ile)
|
rs2034705112
|
|
NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter)
|
rs796065029
|
|
NM_020435.4(GJC2):c.706G>C (p.Gly236Arg)
|
|
|
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser)
|
rs1571908056
|
|
NM_020435.4(GJC2):c.755A>G (p.His252Arg)
|
rs2124966655
|
|
NM_020435.4(GJC2):c.760G>A (p.Val254Met)
|
rs2124966664
|
|
NM_020435.4(GJC2):c.768C>G (p.Cys256Trp)
|
rs1571908096
|
|
NM_020435.4(GJC2):c.787G>A (p.Glu263Lys)
|
rs397514734
|
|
NM_020435.4(GJC2):c.78del (p.Trp27fs)
|
rs886039904
|
|
NM_020435.4(GJC2):c.814T>C (p.Tyr272His)
|
|
|
NM_020435.4(GJC2):c.857T>C (p.Met286Thr)
|
rs74315311
|
|
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter)
|
rs1375875748
|
|
NM_020435.4(GJC2):c.907_923del (p.Gly303fs)
|
rs1423370842
|
|
NM_020435.4(GJC2):c.914_947del (p.Pro305fs)
|
rs796065028
|
|
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs)
|
rs1085307499
|
|
NM_020435.4(GJC2):c.989del (p.Pro330fs)
|
rs796065027
|
|