Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.180618911G>C | CA362501160 | FLT4 | c.2860C>G (p.Pro954Ala) n.2253C>G c.-27C>G (n.-27C>G) n.227C>G c.*1803C>G (n.*1803C>G) c.3109C>G (p.Pro1037Ala) c.3091C>G (p.Pro1031Ala) c.2878C>G (p.Pro960Ala) c.2800C>G (p.Pro934Ala) c.2401C>G (p.Pro801Ala) n.3121C>G c.2782C>G (p.Pro928Ala) n.3325C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.180618911G>A | CA126343 | FLT4 | c.2860C>T (p.Pro954Ser) n.2253C>T c.-27C>T (n.-27C>T) n.227C>T c.*1803C>T (n.*1803C>T) c.3109C>T (p.Pro1037Ser) c.3091C>T (p.Pro1031Ser) c.2878C>T (p.Pro960Ser) c.2800C>T (p.Pro934Ser) c.2401C>T (p.Pro801Ser) n.3121C>T c.2782C>T (p.Pro928Ser) n.3325C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |