| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34233934G>A | CA259813 | SLC12A6 | c.3400C>T (p.Arg1134Ter) c.3362-747C>T (n.3362-747C>T) c.3247C>T (p.Arg1083Ter) c.3223C>T (p.Arg1075Ter) c.3355C>T (p.Arg1119Ter) c.3373C>T (p.Arg1125Ter) c.*423C>T (n.*423C>T) c.*609C>T (n.*609C>T) c.2836C>T (p.Arg946Ter) c.*638C>T (n.*638C>T) c.3253C>T (p.Arg1085Ter) n.3406C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.34233934G= | CA3212240213 | SLC12A6 | c.3400C= (p.Arg1134=) c.3362-747C= (n.3362-747C=) c.3247C= (p.Arg1083=) c.3223C= (p.Arg1075=) c.3355C= (p.Arg1119=) c.3373C= (p.Arg1125=) c.*423C= (n.*423C=) c.*609C= (n.*609C=) c.2836C= (p.Arg946=) c.*638C= (n.*638C=) c.3253C= (p.Arg1085=) n.3406C= | dbSNP |