| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86716734C>T | CA308645 | LDB3 | n.515-1993C>T c.1450C>T (p.Arg484Trp) c.1498C>T (p.Arg500Trp) c.1639C>T (p.Arg547Trp) c.1309C>T (p.Arg437Trp) c.1654C>T (p.Arg552Trp) c.1891C>T (p.Arg631Trp) c.1843C>T (p.Arg615Trp) c.1702C>T (p.Arg568Trp) c.1687C>T (p.Arg563Trp) c.1546C>T (p.Arg516Trp) c.1357C>T (p.Arg453Trp) c.1342C>T (p.Arg448Trp) c.847C>T (p.Arg283Trp) c.658C>T (p.Arg220Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86716734C= | CA1925632016 | LDB3 | n.515-1993C= c.1450C= (p.Arg484=) c.1498C= (p.Arg500=) c.1639C= (p.Arg547=) c.1309C= (p.Arg437=) c.1654C= (p.Arg552=) c.1891C= (p.Arg631=) c.1843C= (p.Arg615=) c.1702C= (p.Arg568=) c.1687C= (p.Arg563=) c.1546C= (p.Arg516=) c.1357C= (p.Arg453=) c.1342C= (p.Arg448=) c.847C= (p.Arg283=) c.658C= (p.Arg220=) | dbSNP |