| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.8949347C>T | CA572797 | CA6 | c.164C>T (p.Thr55Met) c.79+3382C>T (n.79+3382C>T) n.98+3382C>T c.24+3382C>T (n.24+3382C>T) c.176C>T (p.Thr59Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8949347C>G | CA572798 | CA6 | c.164C>G (p.Thr55Arg) c.79+3382C>G (n.79+3382C>G) n.98+3382C>G c.24+3382C>G (n.24+3382C>G) c.176C>G (p.Thr59Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8949347C= | CA1139925299 | CA6 | c.164C= (p.Thr55=) c.79+3382C= (n.79+3382C=) n.98+3382C= c.24+3382C= (n.24+3382C=) c.176C= (p.Thr59=) | dbSNP |