Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67721857G>CCA413426473ARc.*691G>C (n.*691G>C)
c.2343G>C (p.Met781Ile)
c.970G>C (n.970G>C)
c.2174-1829G>C (n.2174-1829G>C)
c.747G>C (p.Met249Ile)
c.1773G>C (p.Met591Ile)
dbSNP
Xg.67721857G>ACA413426471ARc.*691G>A (n.*691G>A)
c.2343G>A (p.Met781Ile)
c.970G>A (n.970G>A)
c.2174-1829G>A (n.2174-1829G>A)
c.747G>A (p.Met249Ile)
c.1773G>A (p.Met591Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.67721857G>TCA120769ARc.*691G>T (n.*691G>T)
c.2343G>T (p.Met781Ile)
c.970G>T (n.970G>T)
c.2174-1829G>T (n.2174-1829G>T)
c.747G>T (p.Met249Ile)
c.1773G>T (p.Met591Ile)
ClinVar dbSNP

Number of alleles fetched