NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_005559.4(LAMA1):c.858+1G>T
|
rs141914419
|
0.00012
|
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)
|
rs775295739
|
0.00006
|
NM_025265.4(TSEN2):c.1099+1G>A
|
rs149417061
|
0.00004
|
NM_001128159.3(VPS53):c.1312_1313+2del
|
rs768997239
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)
|
rs755246924
|
0.00002
|
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)
|
rs869312898
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)
|
rs376815626
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
|
|
|
NC_000014.8:g.(97313682_97319167)_(97322924_97326893)del
|
|
|
NC_000017.10:g.(?_411907)_(618097_?)del
|
|
|
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
|
|
|
NM_001128159.3(VPS53):c.1704+1G>A
|
|
|
NM_001128159.3(VPS53):c.1787+1G>A
|
|
|
NM_001128159.3(VPS53):c.594del (p.Gln199fs)
|
|
|
NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter)
|
rs370828258
|
|
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
|
|
|
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter)
|
|
|
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)
|
rs372318863
|
|
NM_005559.4(LAMA1):c.7195+2T>A
|
|
|
NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.624_626+1del
|
rs769374744
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)
|
|
|
NM_020320.5(RARS2):c.1511+1G>A
|
rs1772453347
|
|
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs)
|
rs757778880
|
|
NM_020320.5(RARS2):c.297+1G>C
|
|
|
NM_020320.5(RARS2):c.2T>G (p.Met1Arg)
|
rs199862050
|
|
NM_020320.5(RARS2):c.613-3927C>T
|
rs1410239766
|
|
NM_020320.5(RARS2):c.633_636del (p.Glu212fs)
|
rs755936301
|
|
NM_021926.4(ALX4):c.16dup (p.Cys6fs)
|
rs746479735
|
|
NM_025265.4(TSEN2):c.960+1_960+5del
|
rs886037738
|
|
NM_207346.3(TSEN54):c.1335del (p.Leu446fs)
|
rs587784476
|
|
NM_207346.3(TSEN54):c.1535del (p.Phe512fs)
|
rs2147019791
|
|
NM_207346.3(TSEN54):c.621_623+9del
|
|
|
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
|
|
|