| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131583398G>C | CA3999349 | ARG1,MED23 | c.709G>C (p.Asp237His) c.604+295G>C (n.604+295G>C) c.655G>C (p.Asp219His) c.*596G>C (n.*596G>C) c.454G>C (p.Asp152His) n.693G>C c.4095+4311C>G (n.4095+4311C>G) c.733G>C (p.Asp245His) c.4077+4311C>G (n.4077+4311C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131583398G>T | CA365652597 | ARG1,MED23 | c.709G>T (p.Asp237Tyr) c.604+295G>T (n.604+295G>T) c.655G>T (p.Asp219Tyr) c.*596G>T (n.*596G>T) c.454G>T (p.Asp152Tyr) n.693G>T c.4095+4311C>A (n.4095+4311C>A) c.733G>T (p.Asp245Tyr) c.4077+4311C>A (n.4077+4311C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131583398G>A | CA365652594 | ARG1,MED23 | c.709G>A (p.Asp237Asn) c.604+295G>A (n.604+295G>A) c.655G>A (p.Asp219Asn) c.*596G>A (n.*596G>A) c.454G>A (p.Asp152Asn) n.693G>A c.4095+4311C>T (n.4095+4311C>T) c.733G>A (p.Asp245Asn) c.4077+4311C>T (n.4077+4311C>T) | ClinVar dbSNP COSMIC |