| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34243993G>A | CA340402 | SLC12A6 | c.2023C>T (p.Arg675Ter) n.2805C>T c.1870C>T (p.Arg624Ter) c.1846C>T (p.Arg616Ter) c.1978C>T (p.Arg660Ter) c.1996C>T (p.Arg666Ter) n.136C>T c.1459C>T (p.Arg487Ter) c.1876C>T (p.Arg626Ter) n.2029C>T n.2030C>T n.3273C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.34243993G>C | CA391620505 | SLC12A6 | c.2023C>G (p.Arg675Gly) n.2805C>G c.1870C>G (p.Arg624Gly) c.1846C>G (p.Arg616Gly) c.1978C>G (p.Arg660Gly) c.1996C>G (p.Arg666Gly) n.136C>G c.1459C>G (p.Arg487Gly) c.1876C>G (p.Arg626Gly) n.2029C>G n.2030C>G n.3273C>G | dbSNP |
| 15 | g.34243993G= | CA2838004544 | SLC12A6 | c.2023C= (p.Arg675=) n.2805C= c.1870C= (p.Arg624=) c.1846C= (p.Arg616=) c.1978C= (p.Arg660=) c.1996C= (p.Arg666=) n.136C= c.1459C= (p.Arg487=) c.1876C= (p.Arg626=) n.2029C= n.2030C= n.3273C= | dbSNP |