Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.14141613C>T | CA050959 | TMEM43 | c.*1051C>T (n.*1051C>T) c.1021C>T (p.Arg341Ter) n.327+2316C>T c.236+2316C>T c.916C>T (p.Arg306Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141613C>A | CA432552839 | TMEM43 | c.*1051C>A (n.*1051C>A) c.1021C>A (p.Arg341=) n.327+2316C>A c.236+2316C>A c.916C>A (p.Arg306=) | dbSNP |