| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128632263A>T | CA318747 | SPTAN1 | c.6935A>T (p.Asp2312Val) c.6962A>T (p.Asp2321Val) c.6986A>T (p.Asp2329Val) c.6425A>T (p.Asp2142Val) c.4504A>T c.2841A>T c.6899A>T (p.Asp2300Val) n.623A>T c.6824A>T (p.Asp2275Val) c.6884A>T (p.Asp2295Val) n.853A>T n.656A>T c.6839A>T (p.Asp2280Val) c.6998A>T (p.Asp2333Val) c.6983A>T (p.Asp2328Val) c.6938A>T (p.Asp2313Val) c.6920A>T (p.Asp2307Val) c.6917A>T (p.Asp2306Val) c.6902A>T (p.Asp2301Val) c.6875A>T (p.Asp2292Val) c.6860A>T (p.Asp2287Val) c.6881A>T (p.Asp2294Val) c.6857A>T (p.Asp2286Val) | ClinVar dbSNP |
| 9 | g.128632263A= | CA1880371262 | SPTAN1 | c.6935A= (p.Asp2312=) c.6962A= (p.Asp2321=) c.6986A= (p.Asp2329=) c.6425A= (p.Asp2142=) c.4504A= c.2841A= c.6899A= (p.Asp2300=) n.623A= c.6824A= (p.Asp2275=) c.6884A= (p.Asp2295=) n.853A= n.656A= c.6839A= (p.Asp2280=) c.6998A= (p.Asp2333=) c.6983A= (p.Asp2328=) c.6938A= (p.Asp2313=) c.6920A= (p.Asp2307=) c.6917A= (p.Asp2306=) c.6902A= (p.Asp2301=) c.6875A= (p.Asp2292=) c.6860A= (p.Asp2287=) c.6881A= (p.Asp2294=) c.6857A= (p.Asp2286=) | dbSNP |