| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.39913352del | CA117953 | MOCS1 | c.722del (p.Leu241ArgfsTer6) n.860del c.461del (p.Leu154ArgfsTer6) c.635del (p.Leu212ArgfsTer6) n.729del n.767del n.640del | ClinVar dbSNP |
| 6 | g.39913352A= | CA1622869306 | MOCS1 | c.722T= (p.Leu241=) n.860T= c.461T= (p.Leu154=) c.635T= (p.Leu212=) n.729T= n.767T= n.640T= | dbSNP dbSNP |