| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21833551G>A | CA669988 | HSPG2 | c.10894C>T (p.Arg3632Ter) n.1249C>T c.27C>T c.10897C>T (p.Arg3633Ter) c.11440C>T (p.Arg3814Ter) c.11392C>T (p.Arg3798Ter) c.11371C>T (p.Arg3791Ter) c.11443C>T (p.Arg3815Ter) c.11164C>T (p.Arg3722Ter) c.10948C>T (p.Arg3650Ter) c.11089C>T (p.Arg3697Ter) c.11038C>T (p.Arg3680Ter) c.11035C>T (p.Arg3679Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21833551G= | CA1158130586 | HSPG2 | c.10894C= (p.Arg3632=) n.1249C= c.27C= c.10897C= (p.Arg3633=) c.11440C= (p.Arg3814=) c.11392C= (p.Arg3798=) c.11371C= (p.Arg3791=) c.11443C= (p.Arg3815=) c.11164C= (p.Arg3722=) c.10948C= (p.Arg3650=) c.11089C= (p.Arg3697=) c.11038C= (p.Arg3680=) c.11035C= (p.Arg3679=) | dbSNP |