| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.65641466C>G | CA381352665 | SIPA1 | c.545C>G (p.Ser182Cys) n.654C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.65641466C>T | CA6105895 | SIPA1 | c.545C>T (p.Ser182Phe) n.654C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.65641466C= | CA1979315675 | SIPA1 | c.545C= (p.Ser182=) n.654C= | dbSNP |