Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.91979700C>T | CA948606 | BRDT | c.1230C>T (p.Asn410=) c.1272C>T (p.Asn424=) c.879C>T (p.Asn293=) c.1011C>T (p.Asn337=) c.1092C>T (p.Asn364=) c.1242C>T (p.Asn414=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.91979700C>G | CA948605 | BRDT | c.1230C>G (p.Asn410Lys) c.1272C>G (p.Asn424Lys) c.879C>G (p.Asn293Lys) c.1011C>G (p.Asn337Lys) c.1092C>G (p.Asn364Lys) c.1242C>G (p.Asn414Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |