|
NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro)
|
rs150167906
|
0.00080
|
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
|
NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val)
|
rs140778319
|
0.00014
|
|
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)
|
rs376562033
|
0.00011
|
|
NM_001083614.2(EARS2):c.1081C>T (p.Arg361Trp)
|
rs761350541
|
0.00006
|
|
NM_005932.4(MIPEP):c.2092G>A (p.Val698Ile)
|
rs567713935
|
0.00004
|
|
NM_145691.4(ATPAF2):c.133+1G>T
|
rs147941728
|
0.00004
|
|
NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys)
|
rs201848368
|
0.00003
|
|
NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys)
|
rs756662327
|
0.00002
|
|
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)
|
rs550032922
|
0.00001
|
|
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
0.00001
|
|
NM_020442.6(VARS2):c.503G>A (p.Arg168His)
|
rs776585917
|
0.00001
|
|
NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr)
|
rs144653284
|
0.00001
|
|
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)
|
rs762576741
|
0.00001
|
|
NM_001136193.2(FASTKD2):c.1538del (p.Leu513fs)
|
rs1690150292
|
|
|
NM_004208.4(AIFM1):c.1267G>A (p.Val423Ile)
|
|
|
|
NM_005932.4(MIPEP):c.1728+5G>T
|
|
|
|
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)
|
rs746746116
|
|
|
NM_014672.4(PRORP):c.1505G>A (p.Arg502Gln)
|
|
|
|
NM_017646.6(TRIT1):c.415-4A>G
|
rs1642667473
|
|
|
NM_018127.7(ELAC2):c.352G>T (p.Val118Phe)
|
rs1906915211
|
|
|
NM_018292.5(QRSL1):c.677C>T (p.Ser226Leu)
|
|
|
|
NM_020442.6(VARS2):c.1166-15G>T
|
rs2150559040
|
|
|
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter)
|
rs2150570235
|
|
|
NM_021100.5(NFS1):c.823C>T (p.Arg275Cys)
|
|
|
|
NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)
|
|
|
|
NM_032380.5(GFM2):c.1615C>A (p.His539Asn)
|
|
|
|
NM_032380.5(GFM2):c.304+1G>A
|
|
|
|
NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter)
|
rs780383722
|
|