| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237334821C>G | CA148086 | COL6A3 | c.1611-1273G>C c.8416G>C (p.Ala2806Pro) c.1161G>C c.9034G>C (p.Ala3012Pro) c.7210G>C (p.Ala2404Pro) c.7213G>C (p.Ala2405Pro) n.5476G>C c.8434G>C (p.Ala2812Pro) c.7813G>C (p.Ala2605Pro) c.8533G>C (p.Ala2845Pro) c.9031G>C (p.Ala3011Pro) c.6628G>C (p.Ala2210Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237334821C>A | CA351189056 | COL6A3 | c.1611-1273G>T c.8416G>T (p.Ala2806Ser) c.1161G>T c.9034G>T (p.Ala3012Ser) c.7210G>T (p.Ala2404Ser) c.7213G>T (p.Ala2405Ser) n.5476G>T c.8434G>T (p.Ala2812Ser) c.7813G>T (p.Ala2605Ser) c.8533G>T (p.Ala2845Ser) c.9031G>T (p.Ala3011Ser) c.6628G>T (p.Ala2210Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237334821C>T | CA351189060 | COL6A3 | c.1611-1273G>A c.8416G>A (p.Ala2806Thr) c.1161G>A c.9034G>A (p.Ala3012Thr) c.7210G>A (p.Ala2404Thr) c.7213G>A (p.Ala2405Thr) n.5476G>A c.8434G>A (p.Ala2812Thr) c.7813G>A (p.Ala2605Thr) c.8533G>A (p.Ala2845Thr) c.9031G>A (p.Ala3011Thr) c.6628G>A (p.Ala2210Thr) | dbSNP gnomAD v3 gnomAD v4 |