| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8746097A>T | CA394692404 | ABAT | c.167A>T (p.Gln56Leu) c.221A>T (p.Gln74Leu) c.179A>T (p.Gln60Leu) n.96A>T c.71-2011A>T (n.71-2011A>T) c.212A>T (p.Gln71Leu) c.32A>T (p.Gln11Leu) c.70+10288A>T (n.70+10288A>T) | dbSNP gnomAD v4 |
| 16 | g.8746097A>G | CA7892974 | ABAT | c.167A>G (p.Gln56Arg) c.221A>G (p.Gln74Arg) c.179A>G (p.Gln60Arg) n.96A>G c.71-2011A>G (n.71-2011A>G) c.212A>G (p.Gln71Arg) c.32A>G (p.Gln11Arg) c.70+10288A>G (n.70+10288A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |