Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5992012G>TCA052604PMS2c.949C>A (p.Gln317Lys)
c.544C>A (p.Gln182Lys)
c.*348C>A (p.=)
n.631C>A (p.Gln211Lys)
n.803+5314C>A (p.=)
n.949C>A
c.631C>A (p.Gln211Lys)
n.63-9107C>A
n.1031C>A
c.943C>A (p.Gln315Lys)
c.16C>A (p.Gln6Lys)
c.994C>A (p.Gln332Lys)
c.376C>A (p.Gln126Lys)
c.640C>A (p.Gln214Lys)
n.1036C>A
ClinVar dbSNP ExAC gnomAD
7g.5992012G>ACA013352PMS2c.949C>T (p.Gln317Ter)
c.544C>T (p.Gln182Ter)
c.*348C>T (p.=)
n.631C>T (p.Gln211Ter)
n.803+5314C>T (p.=)
n.949C>T
c.631C>T (p.Gln211Ter)
n.63-9107C>T
n.1031C>T
c.943C>T (p.Gln315Ter)
c.16C>T (p.Gln6Ter)
c.994C>T (p.Gln332Ter)
c.376C>T (p.Gln126Ter)
c.640C>T (p.Gln214Ter)
n.1036C>T
ClinVar dbSNP

Number of alleles fetched