Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.133256074G>ACA5305773ABOn.686C>T
n.54-4922C>T
c.28+19088C>T (n.28+19088C>T)
n.668C>T
c.654C>T (p.His218=)
c.657C>T (p.His219=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133256074G>TCA375685735ABOn.686C>A
n.54-4922C>A
c.28+19088C>A (n.28+19088C>A)
n.668C>A
c.654C>A (p.His218Gln)
c.657C>A (p.His219Gln)
dbSNP gnomAD v4
9g.133256074G=CA1882580280ABOn.686C=
n.54-4922C=
c.28+19088C= (n.28+19088C=)
n.668C=
c.654C= (p.His218=)
c.657C= (p.His219=)
dbSNP dbSNP
9g.133256074G>CCA375685733ABOn.686C>G
n.54-4922C>G
c.28+19088C>G (n.28+19088C>G)
n.668C>G
c.654C>G (p.His218Gln)
c.657C>G (p.His219Gln)
dbSNP gnomAD v4 COSMIC

Number of alleles fetched