| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34236719G>T | CA7463948 | SLC12A6 | c.3031C>A (p.Arg1011=) c.2878C>A (p.Arg960=) c.2854C>A (p.Arg952=) c.2986C>A (p.Arg996=) c.3004C>A (p.Arg1002=) c.*54C>A (n.*54C>A) c.*240C>A (n.*240C>A) c.2467C>A (p.Arg823=) c.*269C>A (n.*269C>A) c.2884C>A (p.Arg962=) n.3037C>A n.3066C>A n.4310C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.34236719G>A | CA340397 | SLC12A6 | c.3031C>T (p.Arg1011Ter) c.2878C>T (p.Arg960Ter) c.2854C>T (p.Arg952Ter) c.2986C>T (p.Arg996Ter) c.3004C>T (p.Arg1002Ter) c.*54C>T (n.*54C>T) c.*240C>T (n.*240C>T) c.2467C>T (p.Arg823Ter) c.*269C>T (n.*269C>T) c.2884C>T (p.Arg962Ter) n.3037C>T n.3066C>T n.4310C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34236719G>C | CA391617881 | SLC12A6 | c.3031C>G (p.Arg1011Gly) c.2878C>G (p.Arg960Gly) c.2854C>G (p.Arg952Gly) c.2986C>G (p.Arg996Gly) c.3004C>G (p.Arg1002Gly) c.*54C>G (n.*54C>G) c.*240C>G (n.*240C>G) c.2467C>G (p.Arg823Gly) c.*269C>G (n.*269C>G) c.2884C>G (p.Arg962Gly) n.3037C>G n.3066C>G n.4310C>G | dbSNP |
| 15 | g.34236719G= | CA3212167617 | SLC12A6 | c.3031C= (p.Arg1011=) c.2878C= (p.Arg960=) c.2854C= (p.Arg952=) c.2986C= (p.Arg996=) c.3004C= (p.Arg1002=) c.*54C= (n.*54C=) c.*240C= (n.*240C=) c.2467C= (p.Arg823=) c.*269C= (n.*269C=) c.2884C= (p.Arg962=) n.3037C= n.3066C= n.4310C= | dbSNP |