Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.89953615G>ACA166874NBNc.1474C>T (p.Gln492Ter)
c.*1347C>T (p.=)
c.1228C>T (p.Gln410Ter)
c.1450C>T (p.Gln484Ter)
n.1613C>T
c.595C>T (p.Gln199Ter)
ClinVar dbSNP gnomAD
8g.89953615G>TCA10578762NBNc.1474C>A (p.Gln492Lys)
c.*1347C>A (p.=)
c.1228C>A (p.Gln410Lys)
c.1450C>A (p.Gln484Lys)
n.1613C>A
c.595C>A (p.Gln199Lys)
ClinVar dbSNP

Number of alleles fetched