Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339704_32339706del | CA658653676 | BRCA2 | c.5349_5351del (p.Lys1783del) c.4980_4982del (p.Lys1660del) n.5349_5351del | ClinVar dbSNP |
13 | g.32339706del | CA022110 | BRCA2 | c.5351del (p.Asn1784ThrfsTer7) c.4982del (p.Asn1661ThrfsTer7) n.5351del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32339705_32339706dup | CA10589310 | BRCA2 | c.5350_5351dup (p.Asn1784LysfsTer8) c.4981_4982dup (p.Asn1661LysfsTer8) n.5350_5351dup | ClinVar dbSNP |
13 | g.32339706dup | CA022104 | BRCA2 | c.5351dup (p.Asn1784LysfsTer3) c.4982dup (p.Asn1661LysfsTer3) n.5351dup | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
13 | g.32339705_32339706del | CA022093 | BRCA2 | c.5350_5351del (p.Asn1784HisfsTer2) c.4981_4982del (p.Asn1661HisfsTer2) n.5350_5351del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |