Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112839510G>TCA16029925APCc.3581G>T (n.3581G>T)
c.3970G>T (p.Glu1324Ter)
c.*3922G>T (n.*3922G>T)
c.3862G>T (p.Glu1288Ter)
c.3916G>T (p.Glu1306Ter)
c.2269G>T
c.*3238G>T (n.*3238G>T)
c.230+10538G>T
c.3946G>T (p.Glu1316Ter)
c.3841G>T (p.Glu1281Ter)
c.3832G>T (p.Glu1278Ter)
c.3793G>T (p.Glu1265Ter)
c.3739G>T (p.Glu1247Ter)
c.3643G>T (p.Glu1215Ter)
c.3613G>T (p.Glu1205Ter)
c.3538G>T (p.Glu1180Ter)
c.3436G>T (p.Glu1146Ter)
c.3067G>T (p.Glu1023Ter)
ClinVar dbSNP COSMIC
5g.112839510G>ACA16029923APCc.3581G>A (n.3581G>A)
c.3970G>A (p.Glu1324Lys)
c.*3922G>A (n.*3922G>A)
c.3862G>A (p.Glu1288Lys)
c.3916G>A (p.Glu1306Lys)
c.2269G>A
c.*3238G>A (n.*3238G>A)
c.230+10538G>A
c.3946G>A (p.Glu1316Lys)
c.3841G>A (p.Glu1281Lys)
c.3832G>A (p.Glu1278Lys)
c.3793G>A (p.Glu1265Lys)
c.3739G>A (p.Glu1247Lys)
c.3643G>A (p.Glu1215Lys)
c.3613G>A (p.Glu1205Lys)
c.3538G>A (p.Glu1180Lys)
c.3436G>A (p.Glu1146Lys)
c.3067G>A (p.Glu1023Lys)
dbSNP gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched