Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49465749C>T | CA9574516 | ALDH16A1 | c.1580C>T (p.Pro527Leu) c.1427C>T (p.Pro476Leu) c.1091C>T (p.Pro364Leu) c.*1038C>T (n.*1038C>T) c.337+987C>T n.1758-32C>T c.227C>T (p.Pro76Leu) c.1493C>T (p.Pro498Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.49465749C>G | CA9574514 | ALDH16A1 | c.1580C>G (p.Pro527Arg) c.1427C>G (p.Pro476Arg) c.1091C>G (p.Pro364Arg) c.*1038C>G (n.*1038C>G) c.337+987C>G n.1758-32C>G c.227C>G (p.Pro76Arg) c.1493C>G (p.Pro498Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49465749C>A | CA9574515 | ALDH16A1 | c.1580C>A (p.Pro527His) c.1427C>A (p.Pro476His) c.1091C>A (p.Pro364His) c.*1038C>A (n.*1038C>A) c.337+987C>A n.1758-32C>A c.227C>A (p.Pro76His) c.1493C>A (p.Pro498His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |