| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237367010A>C | CA257718 | COL6A3 | c.4559T>G (p.Leu1520Arg) c.5177T>G (p.Leu1726Arg) c.3356T>G (p.Leu1119Arg) c.4577T>G (p.Leu1526Arg) c.3956T>G (p.Leu1319Arg) c.4676T>G (p.Leu1559Arg) c.5174T>G (p.Leu1725Arg) c.2771T>G (p.Leu924Arg) | ClinVar dbSNP |
| 2 | g.237367010A= | CA1337621000 | COL6A3 | c.4559T= (p.Leu1520=) c.5177T= (p.Leu1726=) c.3356T= (p.Leu1119=) c.4577T= (p.Leu1526=) c.3956T= (p.Leu1319=) c.4676T= (p.Leu1559=) c.5174T= (p.Leu1725=) c.2771T= (p.Leu924=) | dbSNP |