NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)
|
rs35302908
|
0.00884
|
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala)
|
rs145043138
|
0.00200
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
NM_012123.4(MTO1):c.1430G>A (p.Arg477His)
|
rs201544686
|
0.00028
|
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)
|
rs200286768
|
0.00011
|
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)
|
rs372174278
|
0.00009
|
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs)
|
rs772578397
|
0.00007
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys)
|
rs749594049
|
0.00003
|
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys)
|
rs778983997
|
0.00002
|
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg)
|
rs536180346
|
0.00001
|
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)
|
rs200187887
|
0.00001
|
NM_024996.7(GFM1):c.607A>G (p.Ile203Val)
|
rs1722079229
|
0.00001
|
NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr)
|
rs767434617
|
0.00001
|
NM_006567.5(FARS2):c.559C>G (p.His187Asp)
|
rs1758874173
|
|
NM_012123.4(MTO1):c.153_174del (p.Thr53fs)
|
rs1770832882
|
|
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter)
|
rs1785274253
|
|
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter)
|
rs1786349461
|
|
NM_024537.4(CARS2):c.1360dup (p.Ile454fs)
|
rs1555342802
|
|
NM_024996.7(GFM1):c.829dup (p.Ser277fs)
|
rs771865940
|
|
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu)
|
rs1722451256
|
|
NM_145691.4(ATPAF2):c.98del (p.Ile33fs)
|
rs2044747934
|
|