| Genename | Variants |
|---|---|
| ASAP2(NM_003887,ArfGAP with SH3 domain, ankyrin repeat and PH domain 2,1006aa) | g.2:9540915A>G,c.2779A>G,p.M927V |
| ASAP2(NM_003887,ArfGAP with SH3 domain, ankyrin repeat and PH domain 2,1006aa) | g.2:9533715A>G,c.2623A>G,p.R875G |
| ASAP2(NM_003887,ArfGAP with SH3 domain, ankyrin repeat and PH domain 2,1006aa) | g.2:9533695C>T,c.2603C>T,p.P868L |
| ASAP2(NM_003887,ArfGAP with SH3 domain, ankyrin repeat and PH domain 2,1006aa) | g.2:9528536G>C,c.2244G>C,p.E748D |
| ASAP2(NM_003887,ArfGAP with SH3 domain, ankyrin repeat and PH domain 2,1006aa) | g.2:9528495G>A,c.2203G>A,p.A735T |
| ASAP2(NM_003887,ArfGAP with SH3 domain, ankyrin repeat and PH domain 2,1006aa) | g.2:9514978T>A,c.1651T>A,p.C551S |
| ASAP2(NM_003887,ArfGAP with SH3 domain, ankyrin repeat and PH domain 2,1006aa) | g.2:9491014C>G,c.1101C>G,p.D367E |
| ASAP1(NM_001247996,ArfGAP with SH3 domain, ankyrin repeat and PH domain 1,1122aa) | g.8:131370285T>C,c.143A>G,p.N48S |
| ASAP1(NM_001247996,ArfGAP with SH3 domain, ankyrin repeat and PH domain 1,1122aa) | g.8:131226840T>A,c.346A>T,p.T116S |
| ASAP1(NM_001247996,ArfGAP with SH3 domain, ankyrin repeat and PH domain 1,1122aa) | g.8:131127924T>G,c.2101A>C,p.N701H |
| ASAP1(NM_001247996,ArfGAP with SH3 domain, ankyrin repeat and PH domain 1,1122aa) | g.8:131124559T>C,c.2161A>G,p.I721V |
| ASAP1(NM_001247996,ArfGAP with SH3 domain, ankyrin repeat and PH domain 1,1122aa) | g.8:131124378G>A,c.2342C>T,p.T781M |
| ASAP1(NM_001247996,ArfGAP with SH3 domain, ankyrin repeat and PH domain 1,1122aa) | g.8:131104231C>T,c.2539G>A,p.A847T |
| ASAP1(NM_001247996,ArfGAP with SH3 domain, ankyrin repeat and PH domain 1,1122aa) | g.8:131073046G>A,c.2950C>T,p.P984S |
| ASAP1(NM_001247996,ArfGAP with SH3 domain, ankyrin repeat and PH domain 1,1122aa) | g.8:131072829T>C,c.3167A>G,p.N1056S |
| ASAH2(NM_019893,N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2,780aa) | g.10:52005095G>A,c.247C>T,p.Q83X |
| ASAH2(NM_019893,N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2,780aa) | g.10:51970604C>T,c.1393G>A,p.G465R |
| ASAH2B(NM_001079516,N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B,165aa) | g.10:52502740C>T,c.56C>T,p.S19F |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17933087C>T,c.88G>A,p.D30N |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17928855G>A,c.170C>T,p.P57L |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17928811C>T,c.214G>A,p.V72M |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17927327T>C,c.277A>G,p.I93V |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17924739A>T,c.372T>A,p.D124E |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17924735G>T,c.376C>A,p.P126T |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17918934A>G,c.737T>C,p.V246A |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17917088C>G,c.910G>C,p.V304L |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17916963T>G,c.928A>C,p.K310Q |
| ASAH1(NM_177924,N-acylsphingosine amidohydrolase (acid ceramidase) 1,395aa) | g.8:17915126C>T,c.1105G>A,p.V369I |