| Genename | Variants |
|---|---|
| BDH2(NM_020139,3-hydroxybutyrate dehydrogenase, type 2,245aa) | g.4:104012371C>T,c.320G>A,p.R107H |
| BDH2(NM_020139,3-hydroxybutyrate dehydrogenase, type 2,245aa) | g.4:104012365A>G,c.326T>C,p.M109T |
| BDH2(NM_020139,3-hydroxybutyrate dehydrogenase, type 2,245aa) | g.4:104007667_104007669del,c.386_388del,p.129_130del |
| BDH2(NM_020139,3-hydroxybutyrate dehydrogenase, type 2,245aa) | g.4:104007643C>T,c.412G>A,p.V138I |
| BDH2(NM_020139,3-hydroxybutyrate dehydrogenase, type 2,245aa) | g.4:104003289G>T,c.633C>A,p.F211L |
| BDH1(NM_203314,3-hydroxybutyrate dehydrogenase, type 1,343aa) | g.3:197260367G>A,c.149C>T,p.A50V |
| BDH1(NM_203314,3-hydroxybutyrate dehydrogenase, type 1,343aa) | g.3:197249618C>A,c.302G>T,p.S101I |
| BDH1(NM_203314,3-hydroxybutyrate dehydrogenase, type 1,343aa) | g.3:197241246C>T,c.451G>A,p.G151R |
| BCS1L(NM_004328,BC1 (ubiquinol-cytochrome c reductase) synthesis-like,419aa) | g.2:219527716G>A,c.1000G>A,p.V334I |
| BCS1L(NM_004328,BC1 (ubiquinol-cytochrome c reductase) synthesis-like,419aa) | g.2:219526649G>A,c.628G>A,p.D210N |
| BCS1L(NM_004328,BC1 (ubiquinol-cytochrome c reductase) synthesis-like,419aa) | g.2:219526634G>A,c.613G>A,p.V205I |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23657703A>T,c.3810A>T,p.E1270D |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23657666C>T,c.3773C>T,p.P1258L |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23657623C>G,c.3730C>G,p.Q1244E |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23655196G>A,c.3445G>A,p.A1149T |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23634790G>A,c.2845G>A,p.V949I |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23632547A>G,c.2729A>G,p.Y910C |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23630318G>A,c.2561G>A,p.R854H |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23627369A>G,c.2387A>G,p.N796S |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23627238C>A,c.2256C>A,p.D752E |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23626230G>A,c.2182G>A,p.V728I |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23603636A>G,c.1661A>G,p.Y554C |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23603580G>C,c.1605G>C,p.Q535H |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23595992C>T,c.1286C>T,p.S429L |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23524334C>T,c.1187C>T,p.P396L |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23524052C>G,c.905C>G,p.T302S |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23523784del,c.637del,p.213fs |
| BCR(NM_004327,breakpoint cluster region,1271aa) | g.22:23523644G>A,c.497G>A,p.G166D |