| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.31789935T>C | CA473563707 | ELP4,PAX6 | c.1268A>G (p.Ter423=) c.1310A>G (p.Ter437=) n.4375A>G c.860A>G (p.Ter287=) c.604A>G (p.Lys202Glu) c.1202A>G (p.Ter401=) c.1160A>G (p.Ter387=) c.1117A>G (p.Lys373Glu) c.665A>G (p.Ter222=) c.*6411T>C (n.*6411T>C) n.874A>G n.685A>G c.1067A>G (p.Ter356=) c.1514A>G (p.Ter505=) c.1472A>G (p.Ter491=) c.1313A>G (p.Ter438=) c.1271A>G (p.Ter424=) c.1109A>G (p.Ter370=) c.*6397T>C (n.*6397T>C) c.*6506T>C (n.*6506T>C) c.1511A>G (p.Ter504=) c.1162A>G (p.Lys388Glu) c.1159A>G (p.Lys387Glu) c.1385A>G (p.Ter462=) c.1343A>G (p.Ter448=) c.958A>G (p.Lys320Glu) c.709A>G (p.Lys237Glu) n.1498A>G n.1654A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.31789935T>A | CA252798 | ELP4,PAX6 | c.1268A>T (p.Ter423Leu) c.1310A>T (p.Ter437Leu) n.4375A>T c.860A>T (p.Ter287Leu) c.604A>T (p.Lys202Ter) c.1202A>T (p.Ter401Leu) c.1160A>T (p.Ter387Leu) c.1117A>T (p.Lys373Ter) c.665A>T (p.Ter222Leu) c.*6411T>A (n.*6411T>A) n.874A>T n.685A>T c.1067A>T (p.Ter356Leu) c.1514A>T (p.Ter505Leu) c.1472A>T (p.Ter491Leu) c.1313A>T (p.Ter438Leu) c.1271A>T (p.Ter424Leu) c.1109A>T (p.Ter370Leu) c.*6397T>A (n.*6397T>A) c.*6506T>A (n.*6506T>A) c.1511A>T (p.Ter504Leu) c.1162A>T (p.Lys388Ter) c.1159A>T (p.Lys387Ter) c.1385A>T (p.Ter462Leu) c.1343A>T (p.Ter448Leu) c.958A>T (p.Lys320Ter) c.709A>T (p.Lys237Ter) n.1498A>T n.1654A>T | ClinVar dbSNP gnomAD v4 COSMIC |