| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.129822664C>T | CA5278699 | TOR1A | c.361G>A (p.Glu121Lys) c.457G>A (p.Glu153Lys) n.380G>A n.471G>A n.521G>A n.389G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.129822664C= | CA1880966997 | TOR1A | c.361G= (p.Glu121=) c.457G= (p.Glu153=) n.380G= n.471G= n.521G= n.389G= | dbSNP |