| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237333533G>C | CA200145 | COL6A3 | c.1626C>G c.8627C>G (p.Pro2876Arg) c.1372C>G c.111C>G (p.Pro37=) c.9245C>G (p.Pro3082Arg) c.7421C>G (p.Pro2474Arg) c.7424C>G (p.Pro2475Arg) n.5687C>G n.177C>G c.8645C>G (p.Pro2882Arg) c.8024C>G (p.Pro2675Arg) c.8744C>G (p.Pro2915Arg) c.9242C>G (p.Pro3081Arg) c.6839C>G (p.Pro2280Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237333533G>A | CA2187317 | COL6A3 | c.1626C>T c.8627C>T (p.Pro2876Leu) c.1372C>T c.111C>T (p.Pro37=) c.9245C>T (p.Pro3082Leu) c.7421C>T (p.Pro2474Leu) c.7424C>T (p.Pro2475Leu) n.5687C>T n.177C>T c.8645C>T (p.Pro2882Leu) c.8024C>T (p.Pro2675Leu) c.8744C>T (p.Pro2915Leu) c.9242C>T (p.Pro3081Leu) c.6839C>T (p.Pro2280Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |