| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.100268731A>C | CA7033421 | PCCA | c.862A>C (p.Arg288=) c.784A>C (p.Arg262=) n.963A>C c.-84A>C (p.=) n.968A>C n.890A>C c.763A>C (p.Arg255=) n.814A>C | ClinVar dbSNP ExAC gnomAD |
| 13 | g.100268731A>G | CA343125 | PCCA | c.862A>G (p.Arg288Gly) c.784A>G (p.Arg262Gly) n.963A>G c.-84A>G (p.=) n.968A>G n.890A>G c.763A>G (p.Arg255Gly) n.814A>G | ClinVar dbSNP gnomAD |
| 13 | g.100268731A>T | CA278124 | PCCA | c.862A>T (p.Arg288Ter) c.784A>T (p.Arg262Ter) n.963A>T c.-84A>T (p.=) n.968A>T n.890A>T c.763A>T (p.Arg255Ter) n.814A>T | ClinVar dbSNP |