| 基因名 | 突变 |
|---|---|
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49362301G>A,c.788C>T,p.T263I |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49362214G>A,c.875C>T,p.S292F |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49362211C>G,c.878G>C,p.R293P |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49362130T>G,c.959A>C,p.E320A |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49360716G>A,c.1010C>T,p.P337L |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49360698C>T,c.1028G>A,p.R343Q |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49357286A>G,c.1154T>C,p.I385T |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49357057C>T,c.1208G>A,p.R403Q |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49357001G>A,c.1264C>T,p.R422C |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49351177C>T,c.1546G>A,p.E516K |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49348842G>C,c.1598C>G,p.P533R |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49348658C>T,c.1712G>A,p.R571H |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49344555G>A,c.1756C>T,p.R586W |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49344521C>T,c.1790G>A,p.R597Q |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49344428C>T,c.1883G>A,p.R628H |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49341367A>G,c.1984T>C,p.Y662H |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49340782G>C,c.2104C>G,p.P702A |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49340746T>C,c.2140A>G,p.T714A |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49340743G>A,c.2143C>T,p.R715C |
| PLEKHA4(NM_020904,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4,779aa) | g.19:49340661C>A,c.2225G>T,p.G742V |
| PLEKHA3(NM_019091,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3,300aa) | g.2:179368562T>C,c.851T>C,p.M284T |
| PLEKHA3(NM_019091,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3,300aa) | g.2:179368528G>A,c.817G>A,p.A273T |
| PLEKHA2(NM_021623,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2,425aa) | g.8:38827186del,c.1162+1del,p.388Donordel |
| PLEKHA2(NM_021623,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2,425aa) | g.8:38827080T>G,c.1057T>G,p.S353A |
| PLEKHA1(NM_001195608,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1,334aa) | g.10:124186545T>G,c.898T>G,p.S300A |
| PLEKHA1(NM_001195608,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1,334aa) | g.10:124175436G>A,c.530G>A,p.S177N |
| PLEK2(NM_016445,pleckstrin 2,353aa) | g.14:67862269G>A,c.239C>T,p.T80M |
| PLEK2(NM_016445,pleckstrin 2,353aa) | g.14:67862243G>A,c.265C>T,p.R89X |