Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.132477995A>G | CA199652 | DNAJC13 | c.2564A>G (p.Asn855Ser) c.*712A>G (n.*712A>G) n.401A>G c.2579A>G (p.Asn860Ser) c.533A>G (p.Asn178Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.132477995A= | CA1402556316 | DNAJC13 | c.2564A= (p.Asn855=) c.*712A= (n.*712A=) n.401A= c.2579A= (p.Asn860=) c.533A= (p.Asn178=) | dbSNP |
3 | g.132477995A>C | CA354566890 | DNAJC13 | c.2564A>C (p.Asn855Thr) c.*712A>C (n.*712A>C) n.401A>C c.2579A>C (p.Asn860Thr) c.533A>C (p.Asn178Thr) | dbSNP gnomAD v4 |