NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
NC_000002.11:g.238258810delG
|
rs794729205
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)
|
rs1603590637
|
|
NM_001849.4(COL6A2):c.1053+2T>C
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro)
|
rs558005986
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys)
|
rs886042705
|
|
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
|
|
|
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)
|
rs121434554
|
|
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs)
|
rs1574976615
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|