| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237372173C>T | CA2189061 | COL6A3 | c.3226G>A (p.Val1076Met) c.3844G>A (p.Val1282Met) c.2023G>A (p.Val675Met) c.2623G>A (p.Val875Met) c.3244G>A (p.Val1082Met) c.1438G>A (p.Val480Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237372173C>A | CA351198902 | COL6A3 | c.3226G>T (p.Val1076Leu) c.3844G>T (p.Val1282Leu) c.2023G>T (p.Val675Leu) c.2623G>T (p.Val875Leu) c.3244G>T (p.Val1082Leu) c.1438G>T (p.Val480Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237372173C= | CA1337623375 | COL6A3 | c.3226G= (p.Val1076=) c.3844G= (p.Val1282=) c.2023G= (p.Val675=) c.2623G= (p.Val875=) c.3244G= (p.Val1082=) c.1438G= (p.Val480=) | dbSNP |