| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237361156C>A | CA10604870 | COL6A3 | c.5557G>T (p.Gly1853Cys) c.6175G>T (p.Gly2059Cys) c.4354G>T (p.Gly1452Cys) c.5575G>T (p.Gly1859Cys) c.4954G>T (p.Gly1652Cys) c.5674G>T (p.Gly1892Cys) c.6172G>T (p.Gly2058Cys) c.3769G>T (p.Gly1257Cys) | ClinVar dbSNP |
| 2 | g.237361156C>T | CA2188425 | COL6A3 | c.5557G>A (p.Gly1853Ser) c.6175G>A (p.Gly2059Ser) c.4354G>A (p.Gly1452Ser) c.5575G>A (p.Gly1859Ser) c.4954G>A (p.Gly1652Ser) c.5674G>A (p.Gly1892Ser) c.6172G>A (p.Gly2058Ser) c.3769G>A (p.Gly1257Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237361156C= | CA1337618665 | COL6A3 | c.5557G= (p.Gly1853=) c.6175G= (p.Gly2059=) c.4354G= (p.Gly1452=) c.5575G= (p.Gly1859=) c.4954G= (p.Gly1652=) c.5674G= (p.Gly1892=) c.6172G= (p.Gly2058=) c.3769G= (p.Gly1257=) | dbSNP |