Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108626284C>T | CA258819 | COL4A5 | c.3181C>T (p.Gln1061Ter) n.2637C>T c.414C>T c.2857C>T (p.Gln953Ter) c.754C>T (p.Gln252Ter) c.3196C>T (p.Gln1066Ter) c.1516C>T (p.Gln506Ter) | ClinVar dbSNP |
X | g.108626284C= | CA2450698089 | COL4A5 | c.3181C= (p.Gln1061=) n.2637C= c.414C= c.2857C= (p.Gln953=) c.754C= (p.Gln252=) c.3196C= (p.Gln1066=) c.1516C= (p.Gln506=) | dbSNP |
X | g.108626284C>G | CA413854989 | COL4A5 | c.3181C>G (p.Gln1061Glu) n.2637C>G c.414C>G c.2857C>G (p.Gln953Glu) c.754C>G (p.Gln252Glu) c.3196C>G (p.Gln1066Glu) c.1516C>G (p.Gln506Glu) | dbSNP gnomAD v4 |