NM_001170535.3(ATAD3A):c.*94G>A
|
rs3128344
|
0.72133
|
NM_001170535.3(ATAD3A):c.1615-85T>C
|
rs6698376
|
0.33673
|
NM_001170535.3(ATAD3A):c.206-12T>C
|
rs9439458
|
0.27602
|
NM_001170535.3(ATAD3A):c.1267-8C>G
|
rs186268381
|
0.02490
|
NM_001170535.3(ATAD3A):c.1215-6T>C
|
rs112869160
|
0.00644
|
NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser)
|
rs2767471
|
0.00200
|
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)
|
rs138594222
|
0.00040
|
NM_001170535.3(ATAD3A):c.1633G>A (p.Glu545Lys)
|
rs149497281
|
0.00039
|
NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr)
|
rs200344678
|
0.00027
|
NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp)
|
rs375517057
|
0.00007
|
NM_001170535.3(ATAD3A):c.1090-3C>G
|
rs375967157
|
0.00004
|
NM_001170535.3(ATAD3A):c.1751C>T (p.Ser584Phe)
|
rs770924627
|
0.00004
|
NM_001170535.3(ATAD3A):c.932C>G (p.Pro311Arg)
|
rs767934619
|
0.00004
|
NM_001170535.3(ATAD3A):c.1487C>T (p.Pro496Leu)
|
rs758650672
|
0.00003
|
NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp)
|
rs773606388
|
0.00001
|
NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=)
|
rs780963309
|
0.00001
|
NM_001170535.3(ATAD3A):c.283-158G>A
|
rs940108737
|
0.00001
|
NM_001170535.3(ATAD3A):c.508C>T (p.Arg170Trp)
|
rs1167820219
|
0.00001
|
NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=)
|
rs776672631
|
0.00001
|
NM_001170535.3(ATAD3A):c.986G>A (p.Arg329His)
|
rs1641699576
|
0.00001
|
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)
|
|
|
NC_000001.10:g.(?_1447541)_(1447854_1451391)del
|
|
|
NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del
|
|
|
NM_001170535.3(ATAD3A):c.*146C>G
|
rs9439464
|
|
NM_001170535.3(ATAD3A):c.*147G>C
|
rs3128343
|
|
NM_001170535.3(ATAD3A):c.*154C>T
|
rs35611435
|
|
NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly)
|
rs1641700970
|
|
NM_001170535.3(ATAD3A):c.1045C>G (p.Leu349Val)
|
rs372111873
|
|
NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter)
|
rs2100667492
|
|
NM_001170535.3(ATAD3A):c.1076C>T (p.Thr359Met)
|
rs1346418902
|
|
NM_001170535.3(ATAD3A):c.1141dup (p.Val381fs)
|
rs1641722871
|
|
NM_001170535.3(ATAD3A):c.1193G>A (p.Trp398Ter)
|
rs2100668792
|
|
NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser)
|
rs2100677960
|
|
NM_001170535.3(ATAD3A):c.1414del (p.His472fs)
|
rs1172676832
|
|
NM_001170535.3(ATAD3A):c.1447C>G (p.Arg483Gly)
|
rs145811436
|
|
NM_001170535.3(ATAD3A):c.150C>G (p.Phe50Leu)
|
rs1641223867
|
|
NM_001170535.3(ATAD3A):c.155C>T (p.Pro52Leu)
|
rs2100637798
|
|
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)
|
rs1057517686
|
|
NM_001170535.3(ATAD3A):c.1583G>A (p.Arg528Gln)
|
rs902213391
|
|
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)
|
rs1057517687
|
|
NM_001170535.3(ATAD3A):c.1700AGA[1] (p.Lys568del)
|
rs745393319
|
|
NM_001170535.3(ATAD3A):c.282+484_444+231del
|
|
|
NM_001170535.3(ATAD3A):c.283-60del
|
rs1557458134
|
|
NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn)
|
rs1427452560
|
|
NM_001170535.3(ATAD3A):c.480_500del (p.Glu161_Glu167del)
|
rs2100654285
|
|
NM_001170535.3(ATAD3A):c.515-4G>C
|
rs775516601
|
|
NM_001170535.3(ATAD3A):c.521T>G (p.Val174Gly)
|
rs750196319
|
|
NM_001170535.3(ATAD3A):c.547A>G (p.Lys183Glu)
|
rs1193481758
|
|
NM_001170535.3(ATAD3A):c.700G>A (p.Gly234Arg)
|
rs1641553966
|
|
NM_001170535.3(ATAD3A):c.707G>T (p.Gly236Val)
|
rs1641554297
|
|
NM_001170535.3(ATAD3A):c.736A>G (p.Lys246Glu)
|
rs1641555589
|
|
NM_001170535.3(ATAD3A):c.739G>A (p.Val247Met)
|
rs1179360173
|
|
NM_001170535.3(ATAD3A):c.750+10C>A
|
rs569633380
|
|
NM_001170535.3(ATAD3A):c.817C>A (p.Arg273Ser)
|
rs574343682
|
|
NM_001170535.3(ATAD3A):c.964-1G>T
|
rs1641698007
|
|
NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro)
|
rs200238845
|
|
NM_015557.3(CHD5):c.2043+4A>T
|
rs1666868736
|
|
NM_031921.6(ATAD3B):c.1058C>T (p.Pro353Leu)
|
|
|
NM_031921.6(ATAD3B):c.131A>G (p.Lys44Arg)
|
|
|
NM_031921.6(ATAD3B):c.1373A>C (p.Gln458Pro)
|
|
|
NM_031921.6(ATAD3B):c.1611G>A (p.Trp537Ter)
|
|
|
NM_031921.6(ATAD3B):c.1639G>C (p.Gly547Arg)
|
|
|
NM_031921.6(ATAD3B):c.1680_1682delTGCinsCTT (p.Ala561Phe)
|
|
|
NM_031921.6(ATAD3B):c.527G>A (p.Arg176Gln)
|
|
|
Single allele
|
|
|