Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112827230G>ACA16024654APCc.1408+5239G>A (n.1408+5239G>A)
c.1585G>A (p.Gly529Arg)
n.1587G>A
c.*1537G>A (n.*1537G>A)
c.1477G>A (p.Gly493Arg)
c.1531G>A (p.Gly511Arg)
c.96+5239G>A
c.220G>A (p.Gly74Arg)
n.18G>A
c.*853G>A (n.*853G>A)
c.18G>A
c.1561G>A (p.Gly521Arg)
c.1456G>A (p.Gly486Arg)
c.1447G>A (p.Gly483Arg)
c.1408G>A (p.Gly470Arg)
c.1354G>A (p.Gly452Arg)
c.1258G>A (p.Gly420Arg)
c.1228G>A (p.Gly410Arg)
c.1153G>A (p.Gly385Arg)
c.1051G>A (p.Gly351Arg)
c.682G>A (p.Gly228Arg)
 ClinVar dbSNP
5g.112827230G>CCA16024655APCc.1408+5239G>C (n.1408+5239G>C)
c.1585G>C (p.Gly529Arg)
n.1587G>C
c.*1537G>C (n.*1537G>C)
c.1477G>C (p.Gly493Arg)
c.1531G>C (p.Gly511Arg)
c.96+5239G>C
c.220G>C (p.Gly74Arg)
n.18G>C
c.*853G>C (n.*853G>C)
c.18G>C
c.1561G>C (p.Gly521Arg)
c.1456G>C (p.Gly486Arg)
c.1447G>C (p.Gly483Arg)
c.1408G>C (p.Gly470Arg)
c.1354G>C (p.Gly452Arg)
c.1258G>C (p.Gly420Arg)
c.1228G>C (p.Gly410Arg)
c.1153G>C (p.Gly385Arg)
c.1051G>C (p.Gly351Arg)
c.682G>C (p.Gly228Arg)
 dbSNP
5g.112827230G>TCA10578317APCc.1408+5239G>T (n.1408+5239G>T)
c.1585G>T (p.Gly529Ter)
n.1587G>T
c.*1537G>T (n.*1537G>T)
c.1477G>T (p.Gly493Ter)
c.1531G>T (p.Gly511Ter)
c.96+5239G>T
c.220G>T (p.Gly74Ter)
n.18G>T
c.*853G>T (n.*853G>T)
c.18G>T
c.1561G>T (p.Gly521Ter)
c.1456G>T (p.Gly486Ter)
c.1447G>T (p.Gly483Ter)
c.1408G>T (p.Gly470Ter)
c.1354G>T (p.Gly452Ter)
c.1258G>T (p.Gly420Ter)
c.1228G>T (p.Gly410Ter)
c.1153G>T (p.Gly385Ter)
c.1051G>T (p.Gly351Ter)
c.682G>T (p.Gly228Ter)
 ClinVar dbSNP

Number of alleles fetched