| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127843094C>A | CA5253208 | ENG | c.-328G>T (n.-328G>T) c.219G>T (p.Thr73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127843094C>T | CA5253209 | ENG | c.-328G>A (n.-328G>A) c.219G>A (p.Thr73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127843094C= | CA1879999054 | ENG | c.-328G= (n.-328G=) c.219G= (p.Thr73=) | dbSNP |