Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112839942C>GCA038746APCc.4402C>G (p.Arg1468Gly)
c.*4354C>G (n.*4354C>G)
c.4294C>G (p.Arg1432Gly)
c.4348C>G (p.Arg1450Gly)
c.*3670C>G (n.*3670C>G)
c.230+10970C>G
c.4378C>G (p.Arg1460Gly)
c.4273C>G (p.Arg1425Gly)
c.4264C>G (p.Arg1422Gly)
c.4225C>G (p.Arg1409Gly)
c.4171C>G (p.Arg1391Gly)
c.4075C>G (p.Arg1359Gly)
c.4045C>G (p.Arg1349Gly)
c.3970C>G (p.Arg1324Gly)
c.3868C>G (p.Arg1290Gly)
c.3499C>G (p.Arg1167Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112839942C>TCA009465APCc.4402C>T (p.Arg1468Ter)
c.*4354C>T (n.*4354C>T)
c.4294C>T (p.Arg1432Ter)
c.4348C>T (p.Arg1450Ter)
c.*3670C>T (n.*3670C>T)
c.230+10970C>T
c.4378C>T (p.Arg1460Ter)
c.4273C>T (p.Arg1425Ter)
c.4264C>T (p.Arg1422Ter)
c.4225C>T (p.Arg1409Ter)
c.4171C>T (p.Arg1391Ter)
c.4075C>T (p.Arg1359Ter)
c.4045C>T (p.Arg1349Ter)
c.3970C>T (p.Arg1324Ter)
c.3868C>T (p.Arg1290Ter)
c.3499C>T (p.Arg1167Ter)
ClinVar dbSNP gnomAD v2 COSMIC
5g.112839942C>ACA445964505APCc.4402C>A (p.Arg1468=)
c.*4354C>A (n.*4354C>A)
c.4294C>A (p.Arg1432=)
c.4348C>A (p.Arg1450=)
c.*3670C>A (n.*3670C>A)
c.230+10970C>A
c.4378C>A (p.Arg1460=)
c.4273C>A (p.Arg1425=)
c.4264C>A (p.Arg1422=)
c.4225C>A (p.Arg1409=)
c.4171C>A (p.Arg1391=)
c.4075C>A (p.Arg1359=)
c.4045C>A (p.Arg1349=)
c.3970C>A (p.Arg1324=)
c.3868C>A (p.Arg1290=)
c.3499C>A (p.Arg1167=)
ClinVar dbSNP

Number of alleles fetched