| Genename | Variants |
|---|---|
| CBWD3(NM_201453,COBW domain containing 3,395aa) | g.9:70913925G>T,c.997G>T,p.G333C |
| CBWD2(NM_172003,COBW domain containing 2,395aa) | g.2:114228626G>A,c.724G>A,p.V242I |
| CBWD2(NM_172003,COBW domain containing 2,395aa) | g.2:114228618T>C,c.716T>C,p.L239P |
| CBWD2(NM_172003,COBW domain containing 2,395aa) | g.2:114220062C>T,c.653C>T,p.A218V |
| CBWD1(NM_001145355,COBW domain containing 1,359aa) | g.9:172128C>G,c.275G>C,p.G92A |
| CBWD1(NM_001145355,COBW domain containing 1,359aa) | g.9:121567T>A,c.980A>T,p.N327I |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44492252G>A,c.52C>T,p.R18C |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44492171G>A,c.133C>T,p.R45W |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44492095G>A,c.209C>T,p.P70L |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44488720T>A,c.215A>T,p.K72I |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44486410G>A,c.394C>T,p.R132C |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44486404C>T,c.400G>A,p.G134R |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44485379G>A,c.670C>T,p.R224C |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44485350G>A,c.699C>T,p.Y233Y |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44483184A>G,c.833T>C,p.I278T |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44480638G>A,c.1058C>T,p.T353M |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44480591G>A,c.1105C>T,p.R369C |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44479029C>T,c.1273G>A,p.V425M |
| CBS(NM_000071,cystathionine-beta-synthase,551aa) | g.21:44474003C>T,c.1643G>A,p.R548Q |
| CBR4(NM_032783,carbonyl reductase 4,237aa) | g.4:169928877G>A,c.173C>T,p.A58V |
| CBR4(NM_032783,carbonyl reductase 4,237aa) | g.4:169928842G>T,c.208C>A,p.L70M |
| CBR4(NM_032783,carbonyl reductase 4,237aa) | g.4:169927980A>G,c.326T>C,p.L109S |
| CBR4(NM_032783,carbonyl reductase 4,237aa) | g.4:169923318C>T,c.439G>A,p.V147I |
| CBR4(NM_032783,carbonyl reductase 4,237aa) | g.4:169911458G>A,c.557C>T,p.T186M |
| CBR3(NM_001236,carbonyl reductase 3,277aa) | g.21:37518706G>A,c.730G>A,p.V244M |
| CBR3(NM_001236,carbonyl reductase 3,277aa) | g.21:37518679A>T,c.703A>T,p.M235L |
| CBR3(NM_001236,carbonyl reductase 3,277aa) | g.21:37510224C>T,c.391C>T,p.P131S |
| CBR3(NM_001236,carbonyl reductase 3,277aa) | g.21:37510203G>A,c.370G>A,p.E124K |