| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1207070del | CA504706179 | STK11 | c.157del (p.Asp53ThrfsTer11) c.-82-11347del (n.-82-11347del) n.247del c.-197del (n.-197del) n.782del | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 19 | g.1207068_1207070del | CA645369776 | STK11 | c.155_157del (p.Gly52del) c.-82-11349_-82-11347del (n.-82-11349_-82-11347del) n.245_247del c.-199_-197del (n.-199_-197del) n.780_782del | ClinVar dbSNP |
| 19 | g.1207070dup | CA504706178 | STK11 | c.157dup (p.Asp53GlyfsTer?) c.-82-11347dup (n.-82-11347dup) n.247dup c.-197dup (n.-197dup) n.782dup | ClinVar dbSNP |
| 19 | g.1207069_1207070del | CA645369777 | STK11 | c.156_157del (p.Asp53ProfsTer?) c.-82-11348_-82-11347del (n.-82-11348_-82-11347del) n.246_247del c.-198_-197del (n.-198_-197del) n.781_782del | ClinVar dbSNP |
| 19 | g.1207069_1207070dup | CA2580096044 | STK11 | c.156_157dup (p.Asp53GlyfsTer12) c.-82-11348_-82-11347dup (n.-82-11348_-82-11347dup) n.246_247dup c.-198_-197dup (n.-198_-197dup) n.781_782dup | ClinVar dbSNP |
| 19 | g.1207068_1207070dup | CA2582591419 | STK11 | c.155_157dup (p.Gly52_Asp53insGly) c.-82-11349_-82-11347dup (n.-82-11349_-82-11347dup) n.245_247dup c.-199_-197dup (n.-199_-197dup) n.780_782dup | dbSNP gnomAD v4 |