Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.88872452G>C | CA10581229 | TTC8 | c.1347G>C (p.Gln449His) c.712G>C (n.712G>C) c.1395G>C (p.Gln465His) c.1227G>C (p.Gln409His) c.552G>C (p.Gln184His) c.753G>C (p.Gln251His) c.1196G>C c.*754G>C (n.*754G>C) c.712G>C c.1317G>C (p.Gln439His) c.630G>C (p.Gln210His) c.1305G>C (p.Gln435His) n.1434G>C | ClinVar dbSNP |
14 | g.88872452G>A | CA487530732 | TTC8 | c.1347G>A (p.Gln449=) c.712G>A (n.712G>A) c.1395G>A (p.Gln465=) c.1227G>A (p.Gln409=) c.552G>A (p.Gln184=) c.753G>A (p.Gln251=) c.1196G>A c.*754G>A (n.*754G>A) c.712G>A c.1317G>A (p.Gln439=) c.630G>A (p.Gln210=) c.1305G>A (p.Gln435=) n.1434G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |