Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17395915G>TCA213454ABCC8c.4135C>A (p.Arg1379Ser)
c.4138C>A (p.Arg1380Ser)
c.2635C>A (p.Arg879Ser)
n.4201C>A
c.4201C>A (p.Arg1401Ser)
c.4132C>A (p.Arg1378Ser)
n.4430C>A
c.4204C>A (p.Arg1402Ser)
c.2701C>A (p.Arg901Ser)
c.2092C>A (p.Arg698Ser)
c.2503C>A (p.Arg835Ser)
n.4276C>A
n.4207C>A
n.5857C>A
n.1C>A
n.3C>A
n.609C>A
ClinVar dbSNP gnomAD
11g.17395915G>ACA120112ABCC8c.4135C>T (p.Arg1379Cys)
c.4138C>T (p.Arg1380Cys)
c.2635C>T (p.Arg879Cys)
n.4201C>T
c.4201C>T (p.Arg1401Cys)
c.4132C>T (p.Arg1378Cys)
n.4430C>T
c.4204C>T (p.Arg1402Cys)
c.2701C>T (p.Arg901Cys)
c.2092C>T (p.Arg698Cys)
c.2503C>T (p.Arg835Cys)
n.4276C>T
n.4207C>T
n.5857C>T
n.1C>T
n.3C>T
n.609C>T
ClinVar dbSNP ExAC gnomAD COSMIC

Number of alleles fetched