| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237360122C>A | CA351216598 | COL6A3 | c.5630G>T (p.Gly1877Val) c.6248G>T (p.Gly2083Val) c.4427G>T (p.Gly1476Val) c.5648G>T (p.Gly1883Val) c.5027G>T (p.Gly1676Val) c.5747G>T (p.Gly1916Val) c.6245G>T (p.Gly2082Val) c.3842G>T (p.Gly1281Val) | ClinVar dbSNP |
| 2 | g.237360122C= | CA1337617819 | COL6A3 | c.5630G= (p.Gly1877=) c.6248G= (p.Gly2083=) c.4427G= (p.Gly1476=) c.5648G= (p.Gly1883=) c.5027G= (p.Gly1676=) c.5747G= (p.Gly1916=) c.6245G= (p.Gly2082=) c.3842G= (p.Gly1281=) | dbSNP |
| 2 | g.237360122C>T | CA351216602 | COL6A3 | c.5630G>A (p.Gly1877Asp) c.6248G>A (p.Gly2083Asp) c.4427G>A (p.Gly1476Asp) c.5648G>A (p.Gly1883Asp) c.5027G>A (p.Gly1676Asp) c.5747G>A (p.Gly1916Asp) c.6245G>A (p.Gly2082Asp) c.3842G>A (p.Gly1281Asp) | ClinVar dbSNP |