| Genename | Variants |
|---|---|
| CERS6(NM_001256126,ceramide synthase 6,392aa) | g.2:169404168C>T,c.233C>T,p.P78L |
| CERS6(NM_001256126,ceramide synthase 6,392aa) | g.2:169312974G>A,c.16G>A,p.A6T |
| CERS5(NM_001281731,ceramide synthase 5,334aa) | g.12:50537815A>G,c.49T>C,p.C17R |
| CERS5(NM_001281731,ceramide synthase 5,334aa) | g.12:50535840C>A,c.314G>T,p.W105L |
| CERS5(NM_001281731,ceramide synthase 5,334aa) | g.12:50524408del,c.925del,p.309fs |
| CERS4(NM_024552,ceramide synthase 4,394aa) | g.19:8326944G>A,c.1136G>A,p.R379Q |
| CERS4(NM_024552,ceramide synthase 4,394aa) | g.19:8326911G>A,c.1103G>A,p.G368E |
| CERS4(NM_024552,ceramide synthase 4,394aa) | g.19:8326904G>A,c.1096G>A,p.A366T |
| CERS4(NM_024552,ceramide synthase 4,394aa) | g.19:8326866C>T,c.1058C>T,p.A353V |
| CERS4(NM_024552,ceramide synthase 4,394aa) | g.19:8321885T>C,c.665T>C,p.F222S |
| CERS4(NM_024552,ceramide synthase 4,394aa) | g.19:8320563C>T,c.364C>T,p.R122W |
| CERS4(NM_024552,ceramide synthase 4,394aa) | g.19:8320555G>A,c.356G>A,p.R119Q |
| CERS4(NM_024552,ceramide synthase 4,394aa) | g.19:8319405C>T,c.196C>T,p.R66W |
| CERS3(NM_178842,ceramide synthase 3,383aa) | g.15:101042009G>A,c.46C>T,p.L16F |
| CERS3(NM_178842,ceramide synthase 3,383aa) | g.15:101041921T>C,c.134A>G,p.Y45C |
| CERS3(NM_178842,ceramide synthase 3,383aa) | g.15:101031132C>T,c.178G>A,p.V60I |
| CERS3(NM_178842,ceramide synthase 3,383aa) | g.15:100996216T>C,c.881A>G,p.H294R |
| CERS3(NM_178842,ceramide synthase 3,383aa) | g.15:100943045T>C,c.1025A>G,p.D342G |
| CERS3(NM_178842,ceramide synthase 3,383aa) | g.15:100943043C>T,c.1027G>A,p.E343K |
| CERS3(NM_178842,ceramide synthase 3,383aa) | g.15:100942968C>T,c.1102G>A,p.G368S |
| CERS3(NM_178842,ceramide synthase 3,383aa) | g.15:100942962T>C,c.1108A>G,p.R370G |
| CERS2(NM_181746,ceramide synthase 2,380aa) | g.1:150941476G>A,c.91C>T,p.R31C |
| CERS2(NM_181746,ceramide synthase 2,380aa) | g.1:150940625T>G,c.344A>C,p.E115A |
| CERS2(NM_181746,ceramide synthase 2,380aa) | g.1:150940144A>G,c.515T>C,p.I172T |
| CERS2(NM_181746,ceramide synthase 2,380aa) | g.1:150939281C>T,c.799G>A,p.V267I |
| CERS2(NM_181746,ceramide synthase 2,380aa) | g.1:150938649T>C,c.1118A>G,p.N373S |
| CERS1(NM_021267,ceramide synthase 1,350aa) | g.19:19004372G>A,c.262C>T,p.R88W |
| CERS1(NM_021267,ceramide synthase 1,350aa) | g.19:19004371C>T,c.263G>A,p.R88Q |