Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125318831C>G | CA3072166 | FAT4 | c.2420C>G (p.Ala807Gly) c.-55+2854C>G (n.-55+2854C>G) n.26C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318831C>T | CA3072165 | FAT4 | c.2420C>T (p.Ala807Val) c.-55+2854C>T (n.-55+2854C>T) n.26C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |