| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.158678432A>G | CA122751 | SPTA1 | c.781T>C (p.Ser261Pro) c.235T>C (p.Ser79Pro) n.894T>C n.899T>C n.907T>C n.909T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158678432A= | CA1141581100 | SPTA1 | c.781T= (p.Ser261=) c.235T= (p.Ser79=) n.894T= n.899T= n.907T= n.909T= | dbSNP |