Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.12919685C>G | CA412413978 | TLR8,TLR8-AS1 | c.645C>G (p.His215Gln) c.699C>G (p.His233Gln) n.241-11352G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.12919685C>T | CA10350231 | TLR8,TLR8-AS1 | c.645C>T (p.His215=) c.699C>T (p.His233=) n.241-11352G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |