| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39672852T>C | CA150829 | PGAP3 | c.914A>G (p.Asp305Gly) n.1299A>G c.761A>G (p.Asp254Gly) c.851A>G (p.Asp284Gly) c.447A>G (p.Ter149Trp) c.911A>G (p.Asp304Gly) c.-161A>G (n.-161A>G) c.572A>G (p.Asp191Gly) c.509A>G (p.Asp170Gly) c.709A>G (p.Thr237Ala) c.569A>G (p.Asp190Gly) n.1441A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39672852T= | CA2259204069 | PGAP3 | c.914A= (p.Asp305=) n.1299A= c.761A= (p.Asp254=) c.851A= (p.Asp284=) c.447A= (p.Ter149=) c.911A= (p.Asp304=) c.-161A= (n.-161A=) c.572A= (p.Asp191=) c.509A= (p.Asp170=) c.709A= (p.Thr237=) c.569A= (p.Asp190=) n.1441A= | dbSNP |