Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.80285517G>T | CA114837 | MAT1A | c.164C>A (p.Ala55Asp) c.98C>A (p.Ala33Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80285517G>A | CA5576882 | MAT1A | c.164C>T (p.Ala55Val) c.98C>T (p.Ala33Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.80285517G= | CA1922580252 | MAT1A | c.164C= (p.Ala55=) c.98C= (p.Ala33=) | dbSNP |