| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70766243A>T | CA16618553 | AUTS2 | c.1598A>T (p.His533Leu) c.-68A>T (n.-68A>T) c.224A>T (p.His75Leu) c.1595A>T (p.His532Leu) c.10A>T c.442A>T c.223A>T n.205A>T c.854A>T (p.His285Leu) c.1307A>T (p.His436Leu) c.1124A>T (p.His375Leu) c.1097A>T (p.His366Leu) | ClinVar dbSNP |
| 7 | g.70766243A= | CA1716166141 | AUTS2 | c.1598A= (p.His533=) c.-68A= (n.-68A=) c.224A= (p.His75=) c.1595A= (p.His532=) c.10A= c.442A= c.223A= n.205A= c.854A= (p.His285=) c.1307A= (p.His436=) c.1124A= (p.His375=) c.1097A= (p.His366=) | dbSNP |