| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131581326G>T | CA339976 | ARG1,MED23 | c.413G>T (p.Gly138Val) c.359G>T (p.Gly120Val) c.*300G>T (n.*300G>T) c.306-1734G>T (n.306-1734G>T) n.397G>T c.4095+6383C>A (n.4095+6383C>A) c.437G>T (p.Gly146Val) c.4077+6383C>A (n.4077+6383C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131581326G= | CA1664135424 | ARG1,MED23 | c.413G= (p.Gly138=) c.359G= (p.Gly120=) c.*300G= (n.*300G=) c.306-1734G= (n.306-1734G=) n.397G= c.4095+6383C= (n.4095+6383C=) c.437G= (p.Gly146=) c.4077+6383C= (n.4077+6383C=) | dbSNP |