Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.91992286C>TCA948837BRDTc.2087C>T (p.Pro696Leu)
c.1868C>T (p.Pro623Leu)
c.1949C>T (p.Pro650Leu)
c.2099C>T (p.Pro700Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.91992286C>GCA341084540BRDTc.2087C>G (p.Pro696Arg)
c.1868C>G (p.Pro623Arg)
c.1949C>G (p.Pro650Arg)
c.2099C>G (p.Pro700Arg)
dbSNP gnomAD v4
1g.91992286C>ACA341084539BRDTc.2087C>A (p.Pro696Gln)
c.1868C>A (p.Pro623Gln)
c.1949C>A (p.Pro650Gln)
c.2099C>A (p.Pro700Gln)
dbSNP gnomAD v4

Number of alleles fetched