Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67717495G>ACA120709ARc.*539G>A (n.*539G>A)
c.2191G>A (p.Val731Met)
c.818G>A (n.818G>A)
c.2173+5806G>A (n.2173+5806G>A)
c.595G>A (p.Val199Met)
c.1621G>A (p.Val541Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.67717495G>CCA413424340ARc.*539G>C (n.*539G>C)
c.2191G>C (p.Val731Leu)
c.818G>C (n.818G>C)
c.2173+5806G>C (n.2173+5806G>C)
c.595G>C (p.Val199Leu)
c.1621G>C (p.Val541Leu)
dbSNP

Number of alleles fetched