| 基因名 | 突变 |
|---|---|
| BMP10(NM_014482,bone morphogenetic protein 10,424aa) | g.2:69093439G>C,c.599C>G,p.T200S |
| BMP10(NM_014482,bone morphogenetic protein 10,424aa) | g.2:69093413G>A,c.625C>T,p.R209C |
| BMP10(NM_014482,bone morphogenetic protein 10,424aa) | g.2:69093288G>T,c.750C>A,p.N250K |
| BMP10(NM_014482,bone morphogenetic protein 10,424aa) | g.2:69093086C>T,c.952G>A,p.A318T |
| BMF(NM_001003940,Bcl2 modifying factor,184aa) | g.15:40398238G>A,c.50C>T,p.P17L |
| BMF(NM_001003940,Bcl2 modifying factor,184aa) | g.15:40384032C>T,c.511G>A,p.A171T |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169356389A>G,c.1172A>G,p.N391S |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169356327G>C,c.1110G>C,p.K370N |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169349823G>A,c.773G>A,p.R258H |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169349811G>A,c.761G>A,p.R254Q |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169347686G>A,c.587G>A,p.R196Q |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169347680T>A,c.581T>A,p.L194Q |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169347644G>A,c.545G>A,p.R182H |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169345894A>C,c.145A>C,p.S49R |
| BLZF1(NM_003666,basic leucine zipper nuclear factor 1,400aa) | g.1:169345868A>G,c.119A>G,p.Q40R |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40971531T>C,c.65A>G,p.Q22R |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40964399G>T,c.133C>A,p.P45T |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40964395C>T,c.137G>A,p.R46Q |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40964125C>T,c.271G>A,p.A91T |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40964121C>T,c.275G>A,p.R92Q |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40964064G>A,c.332C>T,p.S111L |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40957334G>A,c.400C>T,p.R134W |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40957316G>C,c.418C>G,p.R140G |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40957312T>G,c.422A>C,p.E141A |
| BLVRB(NM_000713,biliverdin reductase B (flavin reductase (NADPH)),206aa) | g.19:40957306C>T,c.428G>A,p.G143D |
| BLVRA(NM_001253823,biliverdin reductase A,296aa) | g.7:43843296G>A,c.482G>A,p.R161Q |
| BLVRA(NM_001253823,biliverdin reductase A,296aa) | g.7:43843295C>T,c.481C>T,p.R161W |
| BLVRA(NM_001253823,biliverdin reductase A,296aa) | g.7:43840111G>A,c.400G>A,p.A134T |