| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22255485C>G | CA224408 | ANO5 | n.615C>G c.845C>G (p.Ala282Gly) c.1253C>G (p.Ala418Gly) c.*1227C>G (n.*1227C>G) n.2289C>G n.1495C>G c.1250C>G (p.Ala417Gly) c.1295C>G (p.Ala432Gly) n.1630C>G c.1292C>G (p.Ala431Gly) c.1217C>G (p.Ala406Gly) c.1214C>G (p.Ala405Gly) c.1202C>G (p.Ala401Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22255485C= | CA1957416950 | ANO5 | n.615C= c.845C= (p.Ala282=) c.1253C= (p.Ala418=) c.*1227C= (n.*1227C=) n.2289C= n.1495C= c.1250C= (p.Ala417=) c.1295C= (p.Ala432=) n.1630C= c.1292C= (p.Ala431=) c.1217C= (p.Ala406=) c.1214C= (p.Ala405=) c.1202C= (p.Ala401=) | dbSNP |
| 11 | g.22255485C>T | CA379921609 | ANO5 | n.615C>T c.845C>T (p.Ala282Val) c.1253C>T (p.Ala418Val) c.*1227C>T (n.*1227C>T) n.2289C>T n.1495C>T c.1250C>T (p.Ala417Val) c.1295C>T (p.Ala432Val) n.1630C>T c.1292C>T (p.Ala431Val) c.1217C>T (p.Ala406Val) c.1214C>T (p.Ala405Val) c.1202C>T (p.Ala401Val) | dbSNP gnomAD v4 |