Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35295965C>A | CA405305950 | MAG | c.399C>A (p.Ser133Arg) c.324C>A (p.Ser108Arg) c.176+223C>A (n.176+223C>A) | dbSNP |
19 | g.35295965C>T | CA9375989 | MAG | c.399C>T (p.Ser133=) c.324C>T (p.Ser108=) c.176+223C>T (n.176+223C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35295965C>G | CA211166 | MAG | c.399C>G (p.Ser133Arg) c.324C>G (p.Ser108Arg) c.176+223C>G (n.176+223C>G) | ClinVar dbSNP |