| Genename | Variants |
|---|---|
| PARVG(NM_022141,parvin, gamma,331aa) | g.22:44585128G>A,c.382G>A,p.V128M |
| PARVG(NM_022141,parvin, gamma,331aa) | g.22:44585006C>T,c.260C>T,p.A87V |
| PARVG(NM_022141,parvin, gamma,331aa) | g.22:44581721G>A,c.113G>A,p.R38Q |
| PARVG(NM_022141,parvin, gamma,331aa) | g.22:44581691G>A,c.83G>A,p.G28E |
| PARVG(NM_022141,parvin, gamma,331aa) | g.22:44581688G>C,c.80G>C,p.G27A |
| PARVG(NM_022141,parvin, gamma,331aa) | g.22:44579253G>C,c.44G>C,p.G15A |
| PARVG(NM_022141,parvin, gamma,331aa) | g.22:44579217C>T,c.8C>T,p.P3L |
| PARVB(NM_001003828,parvin, beta,397aa) | g.22:44559768A>T,c.1075A>T,p.M359L |
| PARVB(NM_001003828,parvin, beta,397aa) | g.22:44527442C>T,c.551C>T,p.T184M |
| PARVB(NM_001003828,parvin, beta,397aa) | g.22:44527379G>C,c.488G>C,p.G163A |
| PARVB(NM_001003828,parvin, beta,397aa) | g.22:44495983A>G,c.352A>G,p.K118E |
| PARVB(NM_001003828,parvin, beta,397aa) | g.22:44489868T>C,c.272T>C,p.V91A |
| PARVB(NM_001003828,parvin, beta,397aa) | g.22:44489850C>T,c.254C>T,p.P85L |
| PARVB(NM_001003828,parvin, beta,397aa) | g.22:44395451T>C,c.109T>C,p.W37R |
| PARVB(NM_001003828,parvin, beta,397aa) | g.22:44395283C>G,c.63C>G,p.N21K |
| PARVA(NM_018222,parvin, alpha,412aa) | g.11:12539997G>C,c.1095G>C,p.L365F |
| PARVA(NM_018222,parvin, alpha,412aa) | g.11:12525924G>A,c.725G>A,p.R242H |
| PARVA(NM_018222,parvin, alpha,412aa) | g.11:12495366G>A,c.331G>A,p.E111K |
| PARS2(NM_152268,prolyl-tRNA synthetase 2, mitochondrial (putative),475aa) | g.1:55224773A>C,c.62T>G,p.L21R |
| PARS2(NM_152268,prolyl-tRNA synthetase 2, mitochondrial (putative),475aa) | g.1:55224751C>A,c.84G>T,p.R28S |
| PARS2(NM_152268,prolyl-tRNA synthetase 2, mitochondrial (putative),475aa) | g.1:55224552C>T,c.283G>A,p.V95I |
| PARS2(NM_152268,prolyl-tRNA synthetase 2, mitochondrial (putative),475aa) | g.1:55224270G>A,c.565C>T,p.R189W |
| PARS2(NM_152268,prolyl-tRNA synthetase 2, mitochondrial (putative),475aa) | g.1:55224251C>T,c.584G>A,p.R195H |
| PARS2(NM_152268,prolyl-tRNA synthetase 2, mitochondrial (putative),475aa) | g.1:55224131T>C,c.704A>G,p.N235S |
| PARS2(NM_152268,prolyl-tRNA synthetase 2, mitochondrial (putative),475aa) | g.1:55224012G>A,c.823C>T,p.R275C |
| PARS2(NM_152268,prolyl-tRNA synthetase 2, mitochondrial (putative),475aa) | g.1:55223760C>A,c.1075G>T,p.D359Y |
| PARPBP(NM_017915,PARP1 binding protein,579aa) | g.12:102576340G>A,c.1198G>A,p.V400M |
| PARPBP(NM_017915,PARP1 binding protein,579aa) | g.12:102572527C>T,c.1163C>T,p.T388M |