Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67721905G>CCA10436630ARc.*739G>C (n.*739G>C)
c.2391G>C (p.Trp797Cys)
c.1018G>C (n.1018G>C)
c.2174-1781G>C (n.2174-1781G>C)
c.795G>C (p.Trp265Cys)
c.1821G>C (p.Trp607Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.67721905G>ACA120686ARc.*739G>A (n.*739G>A)
c.2391G>A (p.Trp797Ter)
c.1018G>A (n.1018G>A)
c.2174-1781G>A (n.2174-1781G>A)
c.795G>A (p.Trp265Ter)
c.1821G>A (p.Trp607Ter)
ClinVar dbSNP COSMIC COSMIC COSMIC

Number of alleles fetched