Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55957284G>TCA6620087PMELc.761C>A (p.Ala254Glu)
c.1019C>A (p.Ala340Glu)
c.872C>A (p.Ala291Glu)
c.857C>A (p.Ala286Glu)
c.572C>A (p.Ala191Glu)
n.681C>A
n.59C>A
c.358+1189C>A (p.=)
dbSNP ExAC gnomAD
12g.55957284G>ACA6620086PMELc.761C>T (p.Ala254Val)
c.1019C>T (p.Ala340Val)
c.872C>T (p.Ala291Val)
c.857C>T (p.Ala286Val)
c.572C>T (p.Ala191Val)
n.681C>T
n.59C>T
c.358+1189C>T (p.=)
dbSNP ExAC gnomAD COSMIC COSMIC

Number of alleles fetched