| 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 |
| 2 | g.237334727C>A | CA351188418 | COL6A3 | c.1611-1179G>T c.8510G>T (p.Arg2837Leu) c.1255G>T c.9128G>T (p.Arg3043Leu) c.7304G>T (p.Arg2435Leu) c.7307G>T (p.Arg2436Leu) n.5570G>T n.60G>T c.8528G>T (p.Arg2843Leu) c.7907G>T (p.Arg2636Leu) c.8627G>T (p.Arg2876Leu) c.9125G>T (p.Arg3042Leu) c.6722G>T (p.Arg2241Leu) | dbSNP gnomAD v4 |
| 2 | g.237334727C= | CA1337606431 | COL6A3 | c.1611-1179G= c.8510G= (p.Arg2837=) c.1255G= c.9128G= (p.Arg3043=) c.7304G= (p.Arg2435=) c.7307G= (p.Arg2436=) n.5570G= n.60G= c.8528G= (p.Arg2843=) c.7907G= (p.Arg2636=) c.8627G= (p.Arg2876=) c.9125G= (p.Arg3042=) c.6722G= (p.Arg2241=) | dbSNP |