Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108626284C>TCA258819COL4A5c.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
Xg.108626284C=CA2450698089COL4A5c.3181C= (p.Gln1061=)
n.2637C=
c.414C=
c.2857C= (p.Gln953=)
c.754C= (p.Gln252=)
c.3196C= (p.Gln1066=)
c.1516C= (p.Gln506=)
dbSNP
Xg.108626284C>GCA413854989COL4A5c.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

Number of alleles fetched