| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.78497146C>T | CA7683287 | IREB2 | c.2616C>T (p.Ala872=) c.*1883C>T (n.*1883C>T) c.76C>T c.1866C>T (p.Ala622=) c.2445C>T (p.Ala815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.78497146C>G | CA491609299 | IREB2 | c.2616C>G (p.Ala872=) c.*1883C>G (n.*1883C>G) c.76C>G c.1866C>G (p.Ala622=) c.2445C>G (p.Ala815=) | dbSNP gnomAD v4 |
| 15 | g.78497146C= | CA2189544617 | IREB2 | c.2616C= (p.Ala872=) c.*1883C= (n.*1883C=) c.76C= c.1866C= (p.Ala622=) c.2445C= (p.Ala815=) | dbSNP |