Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44913430C>GCA217202GFAPc.619G>C (p.Glu207Gln)
c.823G>C (p.Glu275Gln)
c.*18G>C (p.=)
c.*263G>C (p.=)
c.-43G>C (p.=)
n.95G>C
c.523G>C (p.Glu175Gln)
c.82+1975G>C (p.=)
c.-114G>C (p.=)
n.269G>C
n.572G>C
c.618+298G>C (p.=)
ClinVar dbSNP
17g.44913430C>TCA217201GFAPc.619G>A (p.Glu207Lys)
c.823G>A (p.Glu275Lys)
c.*18G>A (p.=)
c.*263G>A (p.=)
c.-43G>A (p.=)
n.95G>A
c.523G>A (p.Glu175Lys)
c.82+1975G>A (p.=)
c.-114G>A (p.=)
n.269G>A
n.572G>A
c.618+298G>A (p.=)
ClinVar dbSNP

Number of alleles fetched