| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237334727C>T | CA200142 | COL6A3 | c.1611-1179G>A c.8510G>A (p.Arg2837His) c.1255G>A c.9128G>A (p.Arg3043His) c.7304G>A (p.Arg2435His) c.7307G>A (p.Arg2436His) n.5570G>A n.60G>A c.8528G>A (p.Arg2843His) c.7907G>A (p.Arg2636His) c.8627G>A (p.Arg2876His) c.9125G>A (p.Arg3042His) c.6722G>A (p.Arg2241His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237334727C>G | CA351188416 | COL6A3 | c.1611-1179G>C c.8510G>C (p.Arg2837Pro) c.1255G>C c.9128G>C (p.Arg3043Pro) c.7304G>C (p.Arg2435Pro) c.7307G>C (p.Arg2436Pro) n.5570G>C n.60G>C c.8528G>C (p.Arg2843Pro) c.7907G>C (p.Arg2636Pro) c.8627G>C (p.Arg2876Pro) c.9125G>C (p.Arg3042Pro) c.6722G>C (p.Arg2241Pro) | dbSNP |