| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116790676C>A | CA116843 | APOA5 | c.553G>T (p.Gly185Cys) c.637G>T (p.Gly213Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790676C>T | CA6289052 | APOA5 | c.553G>A (p.Gly185Ser) c.637G>A (p.Gly213Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116790676C>G | CA382738141 | APOA5 | c.553G>C (p.Gly185Arg) c.637G>C (p.Gly213Arg) | dbSNP gnomAD v4 |
| 11 | g.116790676C= | CA2002740737 | APOA5 | c.553G= (p.Gly185=) c.637G= (p.Gly213=) | dbSNP dbSNP |