| 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 |
| 6 | g.110456925T>A | CA365238101 | SLC22A16 | c.146A>T (p.His49Leu) c.140A>T (p.His47Leu) c.17A>T (p.His6Leu) c.-3A>T (n.-3A>T) n.213A>T c.154A>T (p.Ile52Phe) c.118A>T (p.Ile40Phe) c.103A>T (p.Ile35Phe) | dbSNP |
| 6 | g.110456925T= | CA2580593408 | SLC22A16 | c.146A= (p.His49=) c.140A= (p.His47=) c.17A= (p.His6=) c.-3A= (n.-3A=) n.213A= c.154A= (p.Ile52=) c.118A= (p.Ile40=) c.103A= (p.Ile35=) | dbSNP |