Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112839729G>ACA16030388APCc.3800G>A (n.3800G>A)
c.4189G>A (p.Glu1397Lys)
c.*4141G>A (n.*4141G>A)
c.4081G>A (p.Glu1361Lys)
c.4135G>A (p.Glu1379Lys)
c.2488G>A
c.*3457G>A (n.*3457G>A)
c.230+10757G>A
c.4165G>A (p.Glu1389Lys)
c.4060G>A (p.Glu1354Lys)
c.4051G>A (p.Glu1351Lys)
c.4012G>A (p.Glu1338Lys)
c.3958G>A (p.Glu1320Lys)
c.3862G>A (p.Glu1288Lys)
c.3832G>A (p.Glu1278Lys)
c.3757G>A (p.Glu1253Lys)
c.3655G>A (p.Glu1219Lys)
c.3286G>A (p.Glu1096Lys)
dbSNP
5g.112839729G>TCA16030390APCc.3800G>T (n.3800G>T)
c.4189G>T (p.Glu1397Ter)
c.*4141G>T (n.*4141G>T)
c.4081G>T (p.Glu1361Ter)
c.4135G>T (p.Glu1379Ter)
c.2488G>T
c.*3457G>T (n.*3457G>T)
c.230+10757G>T
c.4165G>T (p.Glu1389Ter)
c.4060G>T (p.Glu1354Ter)
c.4051G>T (p.Glu1351Ter)
c.4012G>T (p.Glu1338Ter)
c.3958G>T (p.Glu1320Ter)
c.3862G>T (p.Glu1288Ter)
c.3832G>T (p.Glu1278Ter)
c.3757G>T (p.Glu1253Ter)
c.3655G>T (p.Glu1219Ter)
c.3286G>T (p.Glu1096Ter)
ClinVar dbSNP COSMIC
5g.112839729G>CCA16030389APCc.3800G>C (n.3800G>C)
c.4189G>C (p.Glu1397Gln)
c.*4141G>C (n.*4141G>C)
c.4081G>C (p.Glu1361Gln)
c.4135G>C (p.Glu1379Gln)
c.2488G>C
c.*3457G>C (n.*3457G>C)
c.230+10757G>C
c.4165G>C (p.Glu1389Gln)
c.4060G>C (p.Glu1354Gln)
c.4051G>C (p.Glu1351Gln)
c.4012G>C (p.Glu1338Gln)
c.3958G>C (p.Glu1320Gln)
c.3862G>C (p.Glu1288Gln)
c.3832G>C (p.Glu1278Gln)
c.3757G>C (p.Glu1253Gln)
c.3655G>C (p.Glu1219Gln)
c.3286G>C (p.Glu1096Gln)
dbSNP

Number of alleles fetched