| Genename | Variants |
|---|---|
| APIP(NM_015957,APAF1 interacting protein,242aa) | g.11:34909910G>A,c.391C>T,p.R131W |
| APIP(NM_015957,APAF1 interacting protein,242aa) | g.11:34904972T>C,c.541A>G,p.M181V |
| APIP(NM_015957,APAF1 interacting protein,242aa) | g.11:34904906T>C,c.607A>G,p.T203A |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63597934T>C,c.728T>C,p.L243P |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63597857T>G,c.651T>G,p.F217L |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63594660G>T,c.595G>T,p.V199L |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63594624G>A,c.559G>A,p.G187S |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63579736C>G,c.469C>G,p.L157V |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63571366C>A,c.120C>A,p.F40L |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63569902C>T,c.80C>T,p.T27I |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63569901A>G,c.79A>G,p.T27A |
| APH1B(NM_031301,APH1B gamma secretase subunit,257aa) | g.15:63569832G>A,c.10G>A,p.A4T |
| APEX2(NM_014481,APEX nuclease (apurinic/apyrimidinic endonuclease) 2,518aa) | g.X:55033434C>T,c.1123C>T,p.R375C |
| APEX2(NM_014481,APEX nuclease (apurinic/apyrimidinic endonuclease) 2,518aa) | g.X:55033390A>G,c.1079A>G,p.N360S |
| APEX2(NM_014481,APEX nuclease (apurinic/apyrimidinic endonuclease) 2,518aa) | g.X:55033333G>A,c.1022G>A,p.R341H |
| APEX2(NM_014481,APEX nuclease (apurinic/apyrimidinic endonuclease) 2,518aa) | g.X:55033290C>T,c.979C>T,p.R327C |
| APEX2(NM_014481,APEX nuclease (apurinic/apyrimidinic endonuclease) 2,518aa) | g.X:55032975C>T,c.664C>T,p.R222C |
| APEX2(NM_014481,APEX nuclease (apurinic/apyrimidinic endonuclease) 2,518aa) | g.X:55029451C>T,c.479C>T,p.A160V |
| APEX2(NM_014481,APEX nuclease (apurinic/apyrimidinic endonuclease) 2,518aa) | g.X:55028863C>T,c.421C>T,p.R141C |
| APEX1(NM_001641,APEX nuclease (multifunctional DNA repair enzyme) 1,318aa) | g.14:20925154T>G,c.444T>G,p.D148E |
| APEX1(NM_001641,APEX nuclease (multifunctional DNA repair enzyme) 1,318aa) | g.14:20924204A>G,c.190A>G,p.I64V |
| APEX1(NM_001641,APEX nuclease (multifunctional DNA repair enzyme) 1,318aa) | g.14:20924167G>C,c.153G>C,p.Q51H |
| APEX1(NM_001641,APEX nuclease (multifunctional DNA repair enzyme) 1,318aa) | g.14:20924076C>T,c.62C>T,p.P21L |
| APEX1(NM_001641,APEX nuclease (multifunctional DNA repair enzyme) 1,318aa) | g.14:20923826G>A,c.22G>A,p.G8R |
| APEH(NM_001640,acylaminoacyl-peptide hydrolase,732aa) | g.3:49720687A>G,c.2111A>G,p.K704R |
| APEH(NM_001640,acylaminoacyl-peptide hydrolase,732aa) | g.3:49720002G>C,c.1716G>C,p.Q572H |
| APEH(NM_001640,acylaminoacyl-peptide hydrolase,732aa) | g.3:49719799C>T,c.1622C>T,p.T541M |
| APEH(NM_001640,acylaminoacyl-peptide hydrolase,732aa) | g.3:49718631G>A,c.1397G>A,p.R466Q |