| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237344571T>C | CA244831 | COL6A3 | c.92A>G c.6829A>G (p.Lys2277Glu) c.7447A>G (p.Lys2483Glu) c.5623A>G (p.Lys1875Glu) c.5626A>G (p.Lys1876Glu) n.1701A>G c.6847A>G (p.Lys2283Glu) c.6226A>G (p.Lys2076Glu) c.6946A>G (p.Lys2316Glu) c.7444A>G (p.Lys2482Glu) c.5041A>G (p.Lys1681Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237344571T= | CA1337610936 | COL6A3 | c.92A= c.6829A= (p.Lys2277=) c.7447A= (p.Lys2483=) c.5623A= (p.Lys1875=) c.5626A= (p.Lys1876=) n.1701A= c.6847A= (p.Lys2283=) c.6226A= (p.Lys2076=) c.6946A= (p.Lys2316=) c.7444A= (p.Lys2482=) c.5041A= (p.Lys1681=) | dbSNP |