NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
|
rs119468009
|
0.00006
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)
|
rs119468008
|
0.00001
|
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)
|
rs765235707
|
0.00001
|
NM_020247.5(COQ8A):c.589-3C>G
|
rs1229054489
|
0.00001
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
GRCh37/hg19 1q42.13(chr1:227149087-227149264)
|
|
|
NC_000001.10:g.227150977_227195656del44680
|
|
|
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
|
|
|
NM_020247.5(COQ8A):c.127del (p.Leu43fs)
|
rs754586499
|
|
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)
|
rs797045217
|
|
NM_020247.5(COQ8A):c.1358del (p.Leu453fs)
|
rs1271428051
|
|
NM_020247.5(COQ8A):c.1396del (p.Glu466fs)
|
rs1553280621
|
|
NM_020247.5(COQ8A):c.1398+2T>C
|
rs606231138
|
|
NM_020247.5(COQ8A):c.1506+1G>A
|
rs974677376
|
|
NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)
|
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)
|
rs1572040505
|
|
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)
|
rs387906298
|
|
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)
|
rs752130338
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs)
|
rs606231139
|
|
NM_020247.5(COQ8A):c.656-1G>T
|
rs903436781
|
|
NM_020247.5(COQ8A):c.814G>T (p.Gly272Cys)
|
rs1659735679
|
|
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)
|
rs119468006
|
|
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)
|
rs119468006
|
|
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro)
|
rs781518112
|
|