| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237334838T>C | CA2187381 | COL6A3 | c.1611-1290A>G c.8399A>G (p.Lys2800Arg) c.1144A>G c.9017A>G (p.Lys3006Arg) c.7193A>G (p.Lys2398Arg) c.7196A>G (p.Lys2399Arg) n.5459A>G c.8417A>G (p.Lys2806Arg) c.7796A>G (p.Lys2599Arg) c.8516A>G (p.Lys2839Arg) c.9014A>G (p.Lys3005Arg) c.6611A>G (p.Lys2204Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237334838T= | CA1337606480 | COL6A3 | c.1611-1290A= c.8399A= (p.Lys2800=) c.1144A= c.9017A= (p.Lys3006=) c.7193A= (p.Lys2398=) c.7196A= (p.Lys2399=) n.5459A= c.8417A= (p.Lys2806=) c.7796A= (p.Lys2599=) c.8516A= (p.Lys2839=) c.9014A= (p.Lys3005=) c.6611A= (p.Lys2204=) | dbSNP |