| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94380925dup | CA645509532 | SERPINA1 | c.866dup (p.Asn289LysfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94380925_94380941del | CA2695219657 | SERPINA1 | c.850_866del (p.Leu284Ter) | |
| 14 | g.94380924_94380932del | CA2515417830 | SERPINA1 | c.856_864del (p.His286_Glu288del) | |
| 14 | g.94380925T>A | CA127679 | SERPINA1 | c.863A>T (p.Glu288Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.[94380925T>A;94382636T>C] | CA645511342 | SERPINA1 | c.[602A>G;863A>T] (p.[Asp201Gly;Glu288Val]) | ClinVar |
| 14 | g.[94380925T>A;94383048G>T] | CA645511343 | SERPINA1 | c.[190C>A;863A>T] (p.[Gln64Lys;Glu288Val]) | ClinVar |
| 14 | g.94380925T>C | CA390848415 | SERPINA1 | c.863A>G (p.Glu288Gly) | |
| 14 | g.94380925T>G | CA390848414 | SERPINA1 | c.863A>C (p.Glu288Ala) | |
| 14 | g.94380925T= | CA1630856180 | SERPINA1 | c.863A= (p.Glu288=) | |
| 14 | g.94380926C>A | CA390848416 | SERPINA1 | c.862G>T (p.Glu288Ter) | |
| 14 | g.94380926C>G | CA390848417 | SERPINA1 | c.862G>C (p.Glu288Gln) | |
| 14 | g.94380926C>T | CA390848418 | SERPINA1 | c.862G>A (p.Glu288Lys) | |
| 14 | g.94380927C>A | CA487840963 | SERPINA1 | c.861G>T (p.Leu287=) | |
| 14 | g.94380927C= | CA2155953860 | SERPINA1 | c.861G= (p.Leu287=) | |
| 14 | g.94380927C>G | CA487840961 | SERPINA1 | c.861G>C (p.Leu287=) | |
| 14 | g.94380927C>T | CA487840962 | SERPINA1 | c.861G>A (p.Leu287=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380928A= | CA2155953861 | SERPINA1 | c.860T= (p.Leu287=) | |
| 14 | g.94380928A>C | CA390848419 | SERPINA1 | c.860T>G (p.Leu287Arg) | |
| 14 | g.94380928A>G | CA390848420 | SERPINA1 | c.860T>C (p.Leu287Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380928A>T | CA390848421 | SERPINA1 | c.860T>A (p.Leu287Gln) | |
| 14 | g.94380929G>A | CA487840965 | SERPINA1 | c.859C>T (p.Leu287=) | |
| 14 | g.94380929G>C | CA390848422 | SERPINA1 | c.859C>G (p.Leu287Val) | |
| 14 | g.94380929G>T | CA390848423 | SERPINA1 | c.859C>A (p.Leu287Met) | |
| 14 | g.94380930G>A | CA487840966 | SERPINA1 | c.858C>T (p.His286=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380930G>C | CA390848424 | SERPINA1 | c.858C>G (p.His286Gln) | |
| 14 | g.94380930G= | CA2155953862 | SERPINA1 | c.858C= (p.His286=) | |
| 14 | g.94380930G>T | CA390848425 | SERPINA1 | c.858C>A (p.His286Gln) | |
| 14 | g.94380931T>A | CA390848428 | SERPINA1 | c.857A>T (p.His286Leu) | |
| 14 | g.94380931T>C | CA390848427 | SERPINA1 | c.857A>G (p.His286Arg) | |
| 14 | g.94380931T>G | CA390848426 | SERPINA1 | c.857A>C (p.His286Pro) | |
| 14 | g.94380932G>A | CA7327391 | SERPINA1 | c.856C>T (p.His286Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380932G>C | CA390848429 | SERPINA1 | c.856C>G (p.His286Asp) | |
| 14 | g.94380932G= | CA2155953863 | SERPINA1 | c.856C= (p.His286=) | |
| 14 | g.94380932G>T | CA390848430 | SERPINA1 | c.856C>A (p.His286Asn) | |
| 14 | g.94380932_94380933insAAAAAA | CA2528267626 | SERPINA1 | c.855_856insTTTTTT (p.Gln285_His286insPhePhe) | |
| 14 | g.94380933C>A | CA390848431 | SERPINA1 | c.855G>T (p.Gln285His) | |
| 14 | g.94380933C= | CA2155953864 | SERPINA1 | c.855G= (p.Gln285=) | |
| 14 | g.94380933C>G | CA390848432 | SERPINA1 | c.855G>C (p.Gln285His) | |
| 14 | g.94380933C>T | CA487840970 | SERPINA1 | c.855G>A (p.Gln285=) | dbSNP COSMIC |
| 14 | g.94380934T>A | CA390848433 | SERPINA1 | c.854A>T (p.Gln285Leu) | |
| 14 | g.94380934T>C | CA390848434 | SERPINA1 | c.854A>G (p.Gln285Arg) | |
| 14 | g.94380934T>G | CA390848435 | SERPINA1 | c.854A>C (p.Gln285Pro) | COSMIC |
| 14 | g.94380935G>A | CA390848436 | SERPINA1 | c.853C>T (p.Gln285Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.94380935G>C | CA390848438 | SERPINA1 | c.853C>G (p.Gln285Glu) | |
| 14 | g.94380935G= | CA2155953865 | SERPINA1 | c.853C= (p.Gln285=) | |
| 14 | g.94380935G>T | CA390848437 | SERPINA1 | c.853C>A (p.Gln285Lys) | |
| 14 | g.94380936T>A | CA487840975 | SERPINA1 | c.852A>T (p.Leu284=) | |
| 14 | g.94380936T>C | CA265863754 | SERPINA1 | c.852A>G (p.Leu284=) | dbSNP gnomAD v4 |
| 14 | g.94380936T>G | CA487840976 | SERPINA1 | c.852A>C (p.Leu284=) | |
| 14 | g.94380936T= | CA2155953866 | SERPINA1 | c.852A= (p.Leu284=) |