|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
|
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
|
rs146895312
|
0.00032
|
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
|
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)
|
rs201093611
|
0.00004
|
|
NM_001698.3(AUH):c.374G>A (p.Arg125Gln)
|
rs137939308
|
0.00004
|
|
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
|
rs770661156
|
0.00004
|
|
NM_032861.4(SERAC1):c.1828+3A>G
|
rs773193644
|
0.00003
|
|
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
|
rs760175392
|
0.00002
|
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
|
NM_001001563.5(TIMM50):c.854-8G>C
|
rs1166132682
|
0.00001
|
|
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
|
rs755860454
|
0.00001
|
|
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
|
rs1331493457
|
0.00001
|
|
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
|
rs960976552
|
0.00001
|
|
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp)
|
rs1022155897
|
0.00001
|
|
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
|
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu)
|
rs1455975616
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
|
rs2068330347
|
|
|
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
|
|
|
|
NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
|
|
|
|
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
|
rs2079507347
|
|
|
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu)
|
rs74116778
|
|
|
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
|
rs202229367
|
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
|
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
|
rs1949509947
|
|
|
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
|
rs1949489503
|
|
|
NM_001258392.3(CLPB):c.455+1G>A
|
rs1856507751
|
|
|
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
|
|
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
|
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)
|
rs1675478353
|
|
|
NM_025136.4(OPA3):c.142+1G>A
|
rs1555736793
|
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
|
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)
|
|
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
|
NM_025136.4(OPA3):c.227dup (p.Ala77fs)
|
|
|
|
NM_025136.4(OPA3):c.287del (p.Cys96fs)
|
|
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
|
NM_025136.4(OPA3):c.411_422delinsC (p.Gln137fs)
|
|
|
|
NM_025136.4(OPA3):c.45del (p.Ile16fs)
|
|
|
|
NM_025136.4(OPA3):c.82_84delinsT (p.Ile27_Lys28insTer)
|
|
|
|
NM_025136.4(OPA3):c.97C>T (p.Arg33Ter)
|
|
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|