| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119737177G>C | CA170846 | PHGDH | c.856G>C (p.Ala286Pro) c.*509G>C (n.*509G>C) n.841G>C c.*692G>C (n.*692G>C) c.*600G>C (n.*600G>C) c.612G>C c.*682G>C (n.*682G>C) n.796G>C n.978G>C c.754G>C (p.Ala252Pro) c.1078G>C (p.Ala360Pro) c.1000G>C (p.Ala334Pro) c.967G>C (p.Ala323Pro) c.793G>C (p.Ala265Pro) c.571G>C (p.Ala191Pro) c.562G>C (p.Ala188Pro) | ClinVar dbSNP |
| 1 | g.119737177G= | CA1148224510 | PHGDH | c.856G= (p.Ala286=) c.*509G= (n.*509G=) n.841G= c.*692G= (n.*692G=) c.*600G= (n.*600G=) c.612G= c.*682G= (n.*682G=) n.796G= n.978G= c.754G= (p.Ala252=) c.1078G= (p.Ala360=) c.1000G= (p.Ala334=) c.967G= (p.Ala323=) c.793G= (p.Ala265=) c.571G= (p.Ala191=) c.562G= (p.Ala188=) | dbSNP |