| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.3457441A>G | CA8875928 | TGIF1 | c.260A>G (p.Gln87Arg) c.320A>G (p.Gln107Arg) c.707A>G (p.Gln236Arg) c.*33A>G (n.*33A>G) c.362A>G (p.Gln121Arg) c.329A>G (p.Gln110Arg) | dbSNP ExAC gnomAD v2 |
| 18 | g.3457441A>T | CA254034 | TGIF1 | c.260A>T (p.Gln87Leu) c.320A>T (p.Gln107Leu) c.707A>T (p.Gln236Leu) c.*33A>T (n.*33A>T) c.362A>T (p.Gln121Leu) c.329A>T (p.Gln110Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457441A= | CA2281035520 | TGIF1 | c.260A= (p.Gln87=) c.320A= (p.Gln107=) c.707A= (p.Gln236=) c.*33A= (n.*33A=) c.362A= (p.Gln121=) c.329A= (p.Gln110=) | dbSNP |