| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237334649G>A | CA148098 | COL6A3 | c.1611-1101C>T c.8588C>T (p.Thr2863Ile) c.1333C>T c.74C>T (p.Thr25Ile) c.9206C>T (p.Thr3069Ile) c.7382C>T (p.Thr2461Ile) c.7385C>T (p.Thr2462Ile) n.5648C>T n.138C>T c.8606C>T (p.Thr2869Ile) c.7985C>T (p.Thr2662Ile) c.8705C>T (p.Thr2902Ile) c.9203C>T (p.Thr3068Ile) c.6800C>T (p.Thr2267Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237334649G= | CA1337606385 | COL6A3 | c.1611-1101C= c.8588C= (p.Thr2863=) c.1333C= c.74C= (p.Thr25=) c.9206C= (p.Thr3069=) c.7382C= (p.Thr2461=) c.7385C= (p.Thr2462=) n.5648C= n.138C= c.8606C= (p.Thr2869=) c.7985C= (p.Thr2662=) c.8705C= (p.Thr2902=) c.9203C= (p.Thr3068=) c.6800C= (p.Thr2267=) | dbSNP |