| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86726175G>A | CA117036 | LDB3 | c.1828G>A (p.Asp610Asn) c.1876G>A (p.Asp626Asn) c.2017G>A (p.Asp673Asn) c.1687G>A (p.Asp563Asn) c.2032G>A (p.Asp678Asn) c.157G>A (p.Asp53Asn) c.2269G>A (p.Asp757Asn) c.2221G>A (p.Asp741Asn) c.2080G>A (p.Asp694Asn) c.2065G>A (p.Asp689Asn) c.1924G>A (p.Asp642Asn) c.1735G>A (p.Asp579Asn) c.1720G>A (p.Asp574Asn) c.1225G>A (p.Asp409Asn) c.1036G>A (p.Asp346Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.86726175G= | CA1925637085 | LDB3 | c.1828G= (p.Asp610=) c.1876G= (p.Asp626=) c.2017G= (p.Asp673=) c.1687G= (p.Asp563=) c.2032G= (p.Asp678=) c.157G= (p.Asp53=) c.2269G= (p.Asp757=) c.2221G= (p.Asp741=) c.2080G= (p.Asp694=) c.2065G= (p.Asp689=) c.1924G= (p.Asp642=) c.1735G= (p.Asp579=) c.1720G= (p.Asp574=) c.1225G= (p.Asp409=) c.1036G= (p.Asp346=) | dbSNP |