| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89284132_89284135del | CA645294092 | ANKRD11 | c.2409_2412del (p.Glu805ArgfsTer?) c.*2212_*2215del (n.*2212_*2215del) c.2034_2037del (p.Glu680ArgfsTer?) c.744+4395_744+4398del (n.744+4395_744+4398del) c.151+4395_151+4398del c.2307_2310del (p.Glu771ArgfsTer?) c.2112_2115del (p.Glu706ArgfsTer?) c.2280_2283del (p.Glu762ArgfsTer?) | ClinVar dbSNP |
| 16 | g.89284135del | CA919767990 | ANKRD11 | c.2412del (p.Glu805LysfsTer?) c.*2215del (n.*2215del) c.2037del (p.Glu680LysfsTer?) c.744+4398del (n.744+4398del) c.151+4398del c.2310del (p.Glu771LysfsTer?) c.2115del (p.Glu706LysfsTer?) c.2283del (p.Glu762LysfsTer?) | dbSNP |
| 16 | g.89284131_89284135del | CA10588953 | ANKRD11 | c.2408_2412del (p.Lys803ArgfsTer5) c.*2211_*2215del (n.*2211_*2215del) c.2033_2037del (p.Lys678ArgfsTer5) c.744+4394_744+4398del (n.744+4394_744+4398del) c.151+4394_151+4398del c.2306_2310del (p.Lys769ArgfsTer5) c.2111_2115del (p.Lys704ArgfsTer5) c.2279_2283del (p.Lys760ArgfsTer5) | ClinVar dbSNP gnomAD v4 |