| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23624011del | CA16609592 | PALB2 | c.2838del (p.Arg947GlyfsTer17) c.*313del (n.*313del) c.2832del (p.Arg945GlyfsTer17) c.2676del (p.Arg893GlyfsTer17) c.1947del (p.Arg650GlyfsTer17) n.4179del c.1785del (p.Arg596GlyfsTer17) n.3352del n.2124del n.1527del c.366del (p.Arg123GlyfsTer17) n.3628del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.23624011G= | CA2213414676 | PALB2 | c.2838C= (p.Ile946=) c.*313C= (n.*313C=) c.2832C= (p.Ile944=) c.2676C= (p.Ile892=) c.1947C= (p.Ile649=) n.4179C= c.1785C= (p.Ile595=) n.3352C= n.2124C= n.1527C= c.366C= (p.Ile122=) n.3628C= | dbSNP dbSNP |