NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_012208.4(HARS2):c.598C>G (p.Leu200Val)
|
rs397515410
|
0.00003
|
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met)
|
rs141097216
|
0.00002
|
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)
|
rs587777442
|
0.00001
|
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)
|
rs587777443
|
0.00001
|
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
0.00001
|
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)
|
rs1131692170
|
0.00001
|
NM_012208.4(HARS2):c.647G>A (p.Arg216Gln)
|
rs1229581230
|
0.00001
|
NM_012208.4(HARS2):c.697C>T (p.Arg233Cys)
|
rs749799529
|
0.00001
|
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)
|
rs398123036
|
0.00001
|
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp)
|
rs774649299
|
0.00001
|
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)
|
rs749627411
|
0.00001
|
NM_015340.4(LARS2):c.899C>T (p.Thr300Met)
|
rs864309642
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly)
|
rs672601361
|
0.00001
|
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)
|
rs369588002
|
0.00001
|
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser)
|
rs672601360
|
0.00001
|
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)
|
rs587777444
|
|
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)
|
rs201009485
|
|
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)
|
rs387906825
|
|
NM_006012.4(CLPP):c.270+4A>G
|
rs398123035
|
|
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro)
|
rs398123033
|
|
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser)
|
rs398123034
|
|
NM_006012.4(CLPP):c.624C>G (p.Ile208Met)
|
rs1555719766
|
|
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)
|
rs376177973
|
|
NM_015340.4(LARS2):c.1077del (p.Ile360fs)
|
rs398123037
|
|
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys)
|
rs864309643
|
|
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile)
|
rs776171893
|
|
NM_015340.4(LARS2):c.683G>A (p.Arg228His)
|
rs770440975
|
|