| Genename | Variants |
|---|---|
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12785608T>A,c.698T>A,p.I233N |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12785494G>T,c.584G>T,p.C195F |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12785337G>T,c.427G>T,p.A143S |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12785337G>A,c.427G>A,p.A143T |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12785295C>T,c.385C>T,p.R129W |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12785200T>C,c.290T>C,p.L97S |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12779678G>A,c.199G>A,p.V67I |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12779618T>C,c.139T>C,p.S47P |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12779586G>A,c.107G>A,p.R36H |
| AADACL3(NM_001103170,arylacetamide deacetylase-like 3,350aa) | g.1:12779585C>T,c.106C>T,p.R36C |
| AADACL2(NM_207365,arylacetamide deacetylase-like 2,401aa) | g.3:151463421G>T,c.556G>T,p.A186S |
| AADACL2(NM_207365,arylacetamide deacetylase-like 2,401aa) | g.3:151463403C>T,c.538C>T,p.P180S |
| AADACL2(NM_207365,arylacetamide deacetylase-like 2,401aa) | g.3:151463367C>T,c.502C>T,p.L168F |
| AADACL2(NM_207365,arylacetamide deacetylase-like 2,401aa) | g.3:151461925C>T,c.406C>T,p.L136F |
| AADACL2(NM_207365,arylacetamide deacetylase-like 2,401aa) | g.3:151461890C>T,c.371C>T,p.A124V |
| AADACL2(NM_207365,arylacetamide deacetylase-like 2,401aa) | g.3:151458456G>A,c.161G>A,p.R54H |
| AADACL2(NM_207365,arylacetamide deacetylase-like 2,401aa) | g.3:151458444T>C,c.149T>C,p.F50S |
| AACS(NM_023928,acetoacetyl-CoA synthetase,672aa) | g.12:125626746C>T,c.1990C>T,p.R664W |
| AACS(NM_023928,acetoacetyl-CoA synthetase,672aa) | g.12:125619381C>T,c.1661C>T,p.S554L |
| AACS(NM_023928,acetoacetyl-CoA synthetase,672aa) | g.12:125609459A>T,c.1198A>T,p.S400C |
| AACS(NM_023928,acetoacetyl-CoA synthetase,672aa) | g.12:125591771C>T,c.872C>T,p.S291L |
| AACS(NM_023928,acetoacetyl-CoA synthetase,672aa) | g.12:125591734C>G,c.835C>G,p.L279V |
| AACS(NM_023928,acetoacetyl-CoA synthetase,672aa) | g.12:125561151A>G,c.352A>G,p.I118V |
| AACS(NM_023928,acetoacetyl-CoA synthetase,672aa) | g.12:125561058A>G,c.259A>G,p.I87V |
| AAAS(NM_015665,achalasia, adrenocortical insufficiency, alacrimia,546aa) | g.12:53715207G>T,c.43C>A,p.Q15K |
| AAAS(NM_015665,achalasia, adrenocortical insufficiency, alacrimia,546aa) | g.12:53715187G>C,c.63C>G,p.H21Q |
| AAAS(NM_015665,achalasia, adrenocortical insufficiency, alacrimia,546aa) | g.12:53714440G>A,c.160C>T,p.P54S |
| AAAS(NM_015665,achalasia, adrenocortical insufficiency, alacrimia,546aa) | g.12:53709565G>A,c.253C>T,p.R85C |