NM_001848.3(COL6A1):c.*171C>T
|
rs1025930399
|
0.00038
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_001848.3(COL6A1):c.*526C>T
|
rs866939049
|
0.00019
|
NM_001848.3(COL6A1):c.*367C>A
|
rs546403892
|
0.00016
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
NM_001848.3(COL6A1):c.*13G>A
|
rs376729246
|
0.00013
|
NM_001848.3(COL6A1):c.*754C>T
|
rs886057163
|
0.00013
|
NM_001848.3(COL6A1):c.594G>A (p.Pro198=)
|
rs376592866
|
0.00013
|
NM_001848.3(COL6A1):c.*814C>T
|
rs886057164
|
0.00012
|
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)
|
rs756141940
|
0.00011
|
NM_001848.3(COL6A1):c.*985C>T
|
rs778917156
|
0.00010
|
NM_001848.3(COL6A1):c.*182A>G
|
rs886057159
|
0.00009
|
NM_001848.3(COL6A1):c.*369C>T
|
rs967364586
|
0.00009
|
NM_001848.3(COL6A1):c.227+11C>T
|
rs371425947
|
0.00009
|
NM_001848.3(COL6A1):c.*648C>T
|
rs755204063
|
0.00006
|
NM_001848.3(COL6A1):c.*785C>T
|
rs557900713
|
0.00006
|
NM_001848.3(COL6A1):c.*675G>A
|
rs867951149
|
0.00005
|
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)
|
rs886057155
|
0.00005
|
NM_001848.3(COL6A1):c.*78G>A
|
rs751232299
|
0.00004
|
NM_001848.3(COL6A1):c.1119+13C>T
|
rs199655304
|
0.00004
|
NM_001848.3(COL6A1):c.*851T>C
|
rs886057165
|
0.00003
|
NM_001848.3(COL6A1):c.1208C>G (p.Pro403Arg)
|
rs886057151
|
0.00003
|
NM_001848.3(COL6A1):c.1612-15C>G
|
rs886057154
|
0.00003
|
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)
|
rs770099663
|
0.00003
|
NM_001848.3(COL6A1):c.759+13C>T
|
rs1250324207
|
0.00003
|
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met)
|
rs372199631
|
0.00002
|
NM_001848.3(COL6A1):c.*633T>C
|
rs886057161
|
0.00001
|
NM_001848.3(COL6A1):c.*635G>A
|
rs886057162
|
0.00001
|
NM_001848.3(COL6A1):c.1002+6T>C
|
rs13052179
|
0.00001
|
NM_001848.3(COL6A1):c.1349C>T (p.Pro450Leu)
|
rs759834554
|
0.00001
|
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=)
|
rs763515261
|
0.00001
|
NM_001848.3(COL6A1):c.1770G>A (p.Gly590=)
|
rs752980359
|
0.00001
|
NM_001848.3(COL6A1):c.2030G>A (p.Arg677His)
|
rs373731596
|
0.00001
|
NM_001848.3(COL6A1):c.2958G>C (p.Leu986=)
|
rs886057157
|
0.00001
|
NM_001848.3(COL6A1):c.549C>T (p.Gly183=)
|
rs398123636
|
0.00001
|
NM_001848.3(COL6A1):c.739-9C>T
|
rs886057149
|
0.00001
|
NM_001848.3(COL6A1):c.884T>A (p.Val295Asp)
|
rs376316038
|
0.00001
|
NM_001848.3(COL6A1):c.*138G>A
|
rs2077867191
|
|
NM_001848.3(COL6A1):c.*146G>A
|
rs558686036
|
|
NM_001848.3(COL6A1):c.*236G>A
|
rs2077867931
|
|
NM_001848.3(COL6A1):c.*343G>A
|
rs554489309
|
|
NM_001848.3(COL6A1):c.*343G>C
|
rs554489309
|
|
NM_001848.3(COL6A1):c.*447T>C
|
rs2077869854
|
|
NM_001848.3(COL6A1):c.*555CTC[1]
|
rs886057160
|
|
NM_001848.3(COL6A1):c.*61AG[1]
|
rs886057158
|
|
NM_001848.3(COL6A1):c.*940C>T
|
rs545323453
|
|
NM_001848.3(COL6A1):c.-76G>A
|
rs886057148
|
|
NM_001848.3(COL6A1):c.1209C>G (p.Pro403=)
|
rs763249073
|
|
NM_001848.3(COL6A1):c.1277G>A (p.Gly426Asp)
|
rs886057152
|
|
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr)
|
rs886057153
|
|
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr)
|
rs760275915
|
|
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu)
|
rs1556428597
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.1777-9C>T
|
rs2077836060
|
|
NM_001848.3(COL6A1):c.1785G>A (p.Glu595=)
|
rs2077836249
|
|
NM_001848.3(COL6A1):c.1822+11G>A
|
rs566601241
|
|
NM_001848.3(COL6A1):c.1890C>T (p.Asn630=)
|
rs886057156
|
|
NM_001848.3(COL6A1):c.228-7C>T
|
rs2077724467
|
|
NM_001848.3(COL6A1):c.2465-13C>T
|
rs370893941
|
|
NM_001848.3(COL6A1):c.2524A>G (p.Ser842Gly)
|
rs2077860935
|
|
NM_001848.3(COL6A1):c.2798G>A (p.Gly933Asp)
|
rs2077863585
|
|
NM_001848.3(COL6A1):c.583C>G (p.His195Asp)
|
rs2077740811
|
|
NM_001848.3(COL6A1):c.764dup (p.Arg256fs)
|
rs886057150
|
|
NM_001848.3(COL6A1):c.826C>T (p.Leu276Phe)
|
rs2077759335
|
|