Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.80275192G>A | CA5576701 | MAT1A | c.776C>T (p.Ala259Val) n.8C>T n.288C>T c.653C>T (p.Ala218Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.80275192G>C | CA5576702 | MAT1A | c.776C>G (p.Ala259Gly) n.8C>G n.288C>G c.653C>G (p.Ala218Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.80275192G= | CA1922573589 | MAT1A | c.776C= (p.Ala259=) n.8C= n.288C= c.653C= (p.Ala218=) | dbSNP |