| 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 |
| 4 | g.125318831C= | CA1491602787 | FAT4 | c.2420C= (p.Ala807=) c.-55+2854C= (n.-55+2854C=) n.26C= | dbSNP |
| 4 | g.125318831C>A | CA358120284 | FAT4 | c.2420C>A (p.Ala807Glu) c.-55+2854C>A (n.-55+2854C>A) n.26C>A | dbSNP gnomAD v4 |