| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11448917C>T | CA9213260 | PRKCSH | c.1260C>T (p.Tyr420=) c.1290C>T (p.Tyr430=) c.285C>T (p.Tyr95=) n.452C>T c.1269C>T (p.Tyr423=) n.636C>T n.97C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11448917C>A | CA404136886 | PRKCSH | c.1260C>A (p.Tyr420Ter) c.1290C>A (p.Tyr430Ter) c.285C>A (p.Tyr95Ter) n.452C>A c.1269C>A (p.Tyr423Ter) n.636C>A n.97C>A | ClinVar dbSNP |
| 19 | g.11448917C>G | CA122978 | PRKCSH | c.1260C>G (p.Tyr420Ter) c.1290C>G (p.Tyr430Ter) c.285C>G (p.Tyr95Ter) n.452C>G c.1269C>G (p.Tyr423Ter) n.636C>G n.97C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |