| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48136733del | CA7545932 | MYEF2,SLC24A5 | c.*6175del (n.*6175del) c.641del (p.Leu214ArgfsTer12) c.461del (p.Leu154ArgfsTer12) n.401del c.662del (p.Leu221ArgfsTer12) c.*6330del (n.*6330del) c.395del (p.Leu132ArgfsTer12) c.302del (p.Leu101ArgfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48136733T= | CA3212264184 | MYEF2,SLC24A5 | c.*6175A= (n.*6175A=) c.641T= (p.Leu214=) c.461T= (p.Leu154=) n.401T= c.662T= (p.Leu221=) c.*6330A= (n.*6330A=) c.395T= (p.Leu132=) c.302T= (p.Leu101=) | dbSNP dbSNP |