| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70764835del | CA16042592 | AUTS2 | c.1298del (p.Leu433ProfsTer?) c.-197-1279del (n.-197-1279del) c.-77del (n.-77del) c.1295del (p.Leu432ProfsTer?) c.142del c.554del (p.Leu185ProfsTer?) c.1007del (p.Leu336ProfsTer?) c.824del (p.Leu275ProfsTer?) c.797del (p.Leu266ProfsTer?) | ClinVar dbSNP |
| 7 | g.70764835T= | CA1716163852 | AUTS2 | c.1298T= (p.Leu433=) c.-197-1279T= (n.-197-1279T=) c.-77T= (n.-77T=) c.1295T= (p.Leu432=) c.142T= c.554T= (p.Leu185=) c.1007T= (p.Leu336=) c.824T= (p.Leu275=) c.797T= (p.Leu266=) | dbSNP dbSNP |