| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.110456925T>C | CA3958680 | SLC22A16 | c.146A>G (p.His49Arg) c.140A>G (p.His47Arg) c.17A>G (p.His6Arg) c.-3A>G (n.-3A>G) n.213A>G c.154A>G (p.Ile52Val) c.118A>G (p.Ile40Val) c.103A>G (p.Ile35Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.110456925T>G | CA365238104 | SLC22A16 | c.146A>C (p.His49Pro) c.140A>C (p.His47Pro) c.17A>C (p.His6Pro) c.-3A>C (n.-3A>C) n.213A>C c.154A>C (p.Ile52Leu) c.118A>C (p.Ile40Leu) c.103A>C (p.Ile35Leu) | dbSNP gnomAD v4 |