| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228299T>C | CA114918 | SLC4A11 | c.2518A>G (p.Met840Val) c.2449A>G (p.Met817Val) c.2317A>G (p.Met773Val) c.2404A>G (p.Met802Val) c.2566A>G (p.Met856Val) c.2647A>G (p.Met883Val) c.*666A>G (n.*666A>G) c.2887A>G (p.Met963Val) c.2461A>G (p.Met821Val) c.2485A>G (p.Met829Val) n.2616A>G c.2881A>G (p.Met961Val) n.3061A>G n.3041A>G c.2533A>G (p.Met845Val) n.3026A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228299T= | CA2346474927 | SLC4A11 | c.2518A= (p.Met840=) c.2449A= (p.Met817=) c.2317A= (p.Met773=) c.2404A= (p.Met802=) c.2566A= (p.Met856=) c.2647A= (p.Met883=) c.*666A= (n.*666A=) c.2887A= (p.Met963=) c.2461A= (p.Met821=) c.2485A= (p.Met829=) n.2616A= c.2881A= (p.Met961=) n.3061A= n.3041A= c.2533A= (p.Met845=) n.3026A= | dbSNP |