|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
|
NM_024537.4(CARS2):c.244G>A (p.Val82Ile)
|
rs117788141
|
0.00055
|
|
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)
|
rs142034206
|
0.00030
|
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00016
|
|
NM_213649.2(SFXN4):c.677C>T (p.Ala226Val)
|
rs151157939
|
0.00012
|
|
NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn)
|
rs766087007
|
0.00006
|
|
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln)
|
rs200592030
|
0.00006
|
|
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)
|
rs758539748
|
0.00003
|
|
NM_021100.5(NFS1):c.948+1G>T
|
rs774266655
|
0.00003
|
|
NM_032380.5(GFM2):c.431-3T>C
|
rs369071633
|
0.00003
|
|
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg)
|
rs374679403
|
0.00002
|
|
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp)
|
rs1157458251
|
0.00001
|
|
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser)
|
rs746241006
|
0.00001
|
|
NM_032620.4(GTPBP3):c.664+18T>G
|
rs369523370
|
0.00001
|
|
NM_001083614.2(EARS2):c.569G>A (p.Arg190His)
|
rs533072942
|
|
|
NM_001136193.2(FASTKD2):c.1156T>C (p.Leu386=)
|
|
|
|
NM_001136193.2(FASTKD2):c.266G>A (p.Gly89Asp)
|
|
|
|
NM_001136193.2(FASTKD2):c.484G>A (p.Glu162Lys)
|
|
|
|
NM_005035.4(POLRMT):c.2177G>A (p.Cys726Tyr)
|
|
|
|
NM_005035.4(POLRMT):c.2911G>A (p.Ala971Thr)
|
|
|
|
NM_005035.4(POLRMT):c.578G>A (p.Arg193Gln)
|
|
|
|
NM_005035.4(POLRMT):c.789G>T (p.Met263Ile)
|
|
|
|
NM_005726.6(TSFM):c.321T>G (p.Ile107Met)
|
|
|
|
NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)
|
|
|
|
NM_012123.4(MTO1):c.1436A>G (p.Asp479Gly)
|
|
|
|
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs)
|
rs759445569
|
|
|
NM_012123.4(MTO1):c.392G>A (p.Arg131Lys)
|
|
|
|
NM_016034.5(MRPS2):c.400C>T (p.His134Tyr)
|
rs995894816
|
|
|
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)
|
rs772721937
|
|
|
NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)
|
|
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
|
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)
|
|
|
|
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter)
|
rs1359575116
|
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
|
|
|
NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)
|
|
|
|
NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu)
|
|
|
|
NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)
|
|
|
|
NM_024537.4(CARS2):c.1417-2A>C
|
|
|
|
NM_024537.4(CARS2):c.204del (p.His69fs)
|
|
|
|
NM_024996.7(GFM1):c.1209C>A (p.Ala403=)
|
|
|
|
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)
|
|
|
|
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)
|
|
|
|
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
|
|
|
|
NM_025150.5(TARS2):c.774+5G>T
|
|
|
|
NM_032380.5(GFM2):c.2164C>T (p.Gln722Ter)
|
|
|
|
NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)
|
|
|
|
NM_176818.3(GATC):c.128T>C (p.Leu43Pro)
|
|
|