| 基因名 | 突变 |
|---|---|
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242066156C>T,c.2174G>A,p.G725D |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242065986C>G,c.2344G>C,p.G782R |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242065944C>T,c.2386G>A,p.E796K |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242065799G>T,c.2531C>A,p.P844Q |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242065791C>T,c.2539G>A,p.V847I |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242065754C>T,c.2576G>A,p.C859Y |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242065635A>G,c.2695T>C,p.Y899H |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242063458C>T,c.2810G>A,p.R937H |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242063437C>T,c.2831G>A,p.R944H |
| PASK(NM_001252124,PAS domain containing serine/threonine kinase,1143aa) | g.2:242054403G>A,c.3388C>T,p.R1130W |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150844536A>G,c.2243A>G,p.Y748C |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150842630C>T,c.2147C>T,p.T716I |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150841076A>G,c.1859A>G,p.Q620R |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150840994G>A,c.1777G>A,p.V593I |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150840742G>A,c.1525G>A,p.V509M |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150840697C>T,c.1480C>T,p.R494W |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150839651A>G,c.1213A>G,p.M405V |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150832794C>G,c.1045C>G,p.L349V |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150832720A>G,c.971A>G,p.D324G |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150832716C>G,c.967C>G,p.Q323E |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150832615G>A,c.866G>A,p.G289D |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150832612G>A,c.863G>A,p.R288Q |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150817170C>T,c.713C>T,p.S238L |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150817101A>G,c.644A>G,p.Q215R |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150817094C>G,c.637C>G,p.Q213E |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150790002A>G,c.356A>G,p.H119R |
| PASD1(NM_173493,PAS domain containing 1,773aa) | g.X:150789998G>A,c.352G>A,p.E118K |
| PARVG(NM_022141,parvin, gamma,331aa) | g.22:44602299C>T,c.989C>T,p.P330L |