| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21823627C>T | CA669189 | HSPG2,LDLRAD2 | c.*1412C>T (n.*1412C>T) c.12992G>A (p.Ser4331Asn) n.640G>A n.2331G>A c.*219-283C>T (n.*219-283C>T) c.12995G>A (p.Ser4332Asn) c.13556G>A (p.Ser4519Asn) c.13508G>A (p.Ser4503Asn) c.13487G>A (p.Ser4496Asn) c.13010G>A (p.Ser4337Asn) c.13559G>A (p.Ser4520Asn) c.13541G>A (p.Ser4514Asn) c.13436G>A (p.Ser4479Asn) c.13280G>A (p.Ser4427Asn) c.13064G>A (p.Ser4355Asn) c.13187G>A (p.Ser4396Asn) c.13136G>A (p.Ser4379Asn) c.13133G>A (p.Ser4378Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21823627C= | CA1139990392 | HSPG2,LDLRAD2 | c.*1412C= (n.*1412C=) c.12992G= (p.Ser4331=) n.640G= n.2331G= c.*219-283C= (n.*219-283C=) c.12995G= (p.Ser4332=) c.13556G= (p.Ser4519=) c.13508G= (p.Ser4503=) c.13487G= (p.Ser4496=) c.13010G= (p.Ser4337=) c.13559G= (p.Ser4520=) c.13541G= (p.Ser4514=) c.13436G= (p.Ser4479=) c.13280G= (p.Ser4427=) c.13064G= (p.Ser4355=) c.13187G= (p.Ser4396=) c.13136G= (p.Ser4379=) c.13133G= (p.Ser4378=) | dbSNP |