| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2167011del | CA16041464 | TH | c.717del (p.Lys240ArgfsTer?) c.*406del (n.*406del) c.695+424del (n.695+424del) c.*437del (n.*437del) c.798del (p.Lys267ArgfsTer?) c.810del (p.Lys271ArgfsTer?) c.135+424del c.136-243del n.846del n.266del c.729del (p.Lys244ArgfsTer?) | ClinVar dbSNP |
| 11 | g.2167011C= | CA3183114502 | TH | c.717G= (p.Leu239=) c.*406G= (n.*406G=) c.695+424G= (n.695+424G=) c.*437G= (n.*437G=) c.798G= (p.Leu266=) c.810G= (p.Leu270=) c.135+424G= c.136-243G= n.846G= n.266G= c.729G= (p.Leu243=) | dbSNP dbSNP |