Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.149047930G>ACA348045SH3TC2c.159C>T
c.211C>T (p.Gln71Ter)
n.247C>T
n.281C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.149047930G=CA1590321533SH3TC2c.159C=
c.211C= (p.Gln71=)
n.247C=
n.281C=
dbSNP dbSNP

Number of alleles fetched