Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.129818622C>G | CA117318 | TOR1A | c.646G>C (p.Asp216His) c.742G>C (p.Asp248His) n.756G>C n.63G>C n.806G>C n.674G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.129818622C>T | CA5278587 | TOR1A | c.646G>A (p.Asp216Asn) c.742G>A (p.Asp248Asn) n.756G>A n.63G>A n.806G>A n.674G>A | dbSNP ExAC gnomAD v2 |