| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86718110C>T | CA136561 | LDB3 | n.515-617C>T c.1634C>T (p.Pro545Leu) c.1682C>T (p.Pro561Leu) c.1823C>T (p.Pro608Leu) c.1493C>T (p.Pro498Leu) c.1838C>T (p.Pro613Leu) c.2075C>T (p.Pro692Leu) c.2027C>T (p.Pro676Leu) c.1886C>T (p.Pro629Leu) c.1871C>T (p.Pro624Leu) c.1730C>T (p.Pro577Leu) c.1541C>T (p.Pro514Leu) c.1526C>T (p.Pro509Leu) c.1031C>T (p.Pro344Leu) c.842C>T (p.Pro281Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86718110C= | CA1925632531 | LDB3 | n.515-617C= c.1634C= (p.Pro545=) c.1682C= (p.Pro561=) c.1823C= (p.Pro608=) c.1493C= (p.Pro498=) c.1838C= (p.Pro613=) c.2075C= (p.Pro692=) c.2027C= (p.Pro676=) c.1886C= (p.Pro629=) c.1871C= (p.Pro624=) c.1730C= (p.Pro577=) c.1541C= (p.Pro514=) c.1526C= (p.Pro509=) c.1031C= (p.Pro344=) c.842C= (p.Pro281=) | dbSNP |