| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80113350C>T | CA116598 | GAA | c.2173C>T (p.Arg725Trp) c.*311C>T (n.*311C>T) c.592C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.80113350C>A | CA502179275 | GAA | c.2173C>A (p.Arg725=) c.*311C>A (n.*311C>A) c.592C>A | dbSNP gnomAD v4 |
| 17 | g.80113350C= | CA2277815530 | GAA | c.2173C= (p.Arg725=) c.*311C= (n.*311C=) c.592C= | dbSNP |