| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232528301T>C | CA128069 | CHRND | c.283T>C (p.Phe95Leu) c.238T>C (p.Phe80Leu) c.12T>C (p.Asn4=) c.-4294966957T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232528301T= | CA1335310420 | CHRND | c.283T= (p.Phe95=) c.238T= (p.Phe80=) c.12T= (p.Asn4=) c.-4294966957T= | dbSNP |