| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18785050T>C | CA343862 | COMP | c.1760A>G (p.His587Arg) c.1601A>G (p.His534Arg) c.1661A>G (p.His554Arg) | ClinVar dbSNP |
| 19 | g.18785050T>A | CA404878978 | COMP | c.1760A>T (p.His587Leu) c.1601A>T (p.His534Leu) c.1661A>T (p.His554Leu) | ClinVar dbSNP |
| 19 | g.18785050T= | CA2326524932 | COMP | c.1760A= (p.His587=) c.1601A= (p.His534=) c.1661A= (p.His554=) | dbSNP |