| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232531353del | CA16043387 | CHRND | c.822del (p.Ser274ArgfsTer?) c.511del (p.Trp171GlyfsTer?) c.*4del (n.*4del) c.*463del (n.*463del) c.777del (p.Ser259ArgfsTer?) c.240del (p.Gly81ValfsTer?) c.519del (p.Ser173ArgfsTer?) c.-4294966729del c.-4294966450del c.441del (p.Ser147ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 2 | g.232531353T= | CA1335311851 | CHRND | c.822T= (p.Ser274=) c.511T= (p.Trp171=) c.*4T= (n.*4T=) c.*463T= (n.*463T=) c.777T= (p.Ser259=) c.240T= (p.Gly80=) c.519T= (p.Ser173=) c.-4294966729T= c.-4294966450T= c.441T= (p.Ser147=) | dbSNP dbSNP |