Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.168467849C>TCA3549380WWC1c.3160C>T (p.Arg1054Ter)
c.3059C>T
n.157C>T
c.3178C>T (p.Arg1060Ter)
n.42C>T
n.976C>T
c.1153C>T (p.Arg385Ter)
c.2486C>T
c.976C>T (p.Arg326Ter)
c.3175C>T (p.Arg1059Ter)
c.3193C>T (p.Arg1065Ter)
c.3157C>T (p.Arg1053Ter)
c.3376C>T (p.Arg1126Ter)
c.3373C>T (p.Arg1125Ter)
c.3361C>T (p.Arg1121Ter)
c.3358C>T (p.Arg1120Ter)
c.3355C>T (p.Arg1119Ter)
c.3343C>T (p.Arg1115Ter)
c.3340C>T (p.Arg1114Ter)
c.2911C>T (p.Arg971Ter)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.168467849C>GCA362091406WWC1c.3160C>G (p.Arg1054Gly)
c.3059C>G
n.157C>G
c.3178C>G (p.Arg1060Gly)
n.42C>G
n.976C>G
c.1153C>G (p.Arg385Gly)
c.2486C>G
c.976C>G (p.Arg326Gly)
c.3175C>G (p.Arg1059Gly)
c.3193C>G (p.Arg1065Gly)
c.3157C>G (p.Arg1053Gly)
c.3376C>G (p.Arg1126Gly)
c.3373C>G (p.Arg1125Gly)
c.3361C>G (p.Arg1121Gly)
c.3358C>G (p.Arg1120Gly)
c.3355C>G (p.Arg1119Gly)
c.3343C>G (p.Arg1115Gly)
c.3340C>G (p.Arg1114Gly)
c.2911C>G (p.Arg971Gly)
dbSNP gnomAD v4

Number of alleles fetched