NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter)
|
rs1304888945
|
0.00003
|
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)
|
rs886043521
|
0.00001
|
NM_001848.3(COL6A1):c.1002+1G>C
|
rs886043700
|
|
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)
|
rs794727121
|
|
NM_001848.3(COL6A1):c.1021G>C (p.Gly341Arg)
|
rs886043321
|
|
NM_001848.3(COL6A1):c.1042_1043dup (p.Pro349fs)
|
rs2123473129
|
|
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn)
|
rs886042646
|
|
NM_001848.3(COL6A1):c.108_115del (p.Asp37fs)
|
rs2123460152
|
|
NM_001848.3(COL6A1):c.1132G>C (p.Ala378Pro)
|
rs1057518005
|
|
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala)
|
rs2123474665
|
|
NM_001848.3(COL6A1):c.1283G>C (p.Gly428Ala)
|
rs2123475472
|
|
NM_001848.3(COL6A1):c.128A>C (p.Asp43Ala)
|
rs786205555
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.1761_1764dup (p.Pro589fs)
|
rs1603593491
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
NM_001848.3(COL6A1):c.227+1G>A
|
rs2123460317
|
|
NM_001848.3(COL6A1):c.2435-2A>G
|
rs940473416
|
|
NM_001848.3(COL6A1):c.738G>A (p.Val246=)
|
rs1064797287
|
|
NM_001848.3(COL6A1):c.741C>A (p.Cys247Ter)
|
rs1057522053
|
|
NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg)
|
rs762299598
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg)
|
rs886042856
|
|
NM_001848.3(COL6A1):c.823G>C (p.Gly275Arg)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.833G>A (p.Gly278Glu)
|
rs886043106
|
|
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)
|
rs1057521152
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)
|
rs398123644
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg)
|
rs794727028
|
|
NM_001848.3(COL6A1):c.905G>T (p.Gly302Val)
|
rs1556425566
|
|
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)
|
rs886042684
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu)
|
rs1556425679
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
NM_001848.3(COL6A1):c.957+2T>G
|
|
|
NM_001848.3(COL6A1):c.968G>A (p.Gly323Asp)
|
|
|