Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.230219586G>TCA66764419SP110,SP140c.17+2119C>A (p.=)
c.-2+288C>A (p.=)
c.-2+5512G>T (p.=)
c.-463+288C>A (p.=)
c.-32C>A (p.=)
c.-2+2119C>A (p.=)
c.-33+288C>A (p.=)
c.-91+5512G>T (p.=)
n.116+288C>A
n.17+2119C>A (p.=)
dbSNP gnomAD
2g.230219586G>ACA11101115SP110,SP140c.17+2119C>T (p.=)
c.-2+288C>T (p.=)
c.-2+5512G>A (p.=)
c.-463+288C>T (p.=)
c.-32C>T (p.=)
c.-2+2119C>T (p.=)
c.-33+288C>T (p.=)
c.-91+5512G>A (p.=)
n.116+288C>T
n.17+2119C>T (p.=)
dbSNP gnomAD

Number of alleles fetched