| 基因名 | 突变 |
|---|---|
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93913355T>C,c.1133T>C,p.V378A |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93913184A>G,c.962A>G,p.K321R |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93913090G>A,c.868G>A,p.V290M |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93913036A>G,c.814A>G,p.I272V |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93911692C>T,c.479C>T,p.A160V |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93911640A>G,c.427A>G,p.M143V |
| PANX1(NM_015368,pannexin 1,426aa) | g.11:93862493A>C,c.15A>C,p.Q5H |
| PANK4(NM_018216,pantothenate kinase 4,773aa) | g.1:2458010G>C,c.17C>G,p.A6G |
| PANK4(NM_018216,pantothenate kinase 4,773aa) | g.1:2453162C>T,c.202G>A,p.G68R |
| PANK4(NM_018216,pantothenate kinase 4,773aa) | g.1:2452190T>C,c.578A>G,p.N193S |
| PANK4(NM_018216,pantothenate kinase 4,773aa) | g.1:2445838C>T,c.1442G>A,p.R481Q |
| PANK4(NM_018216,pantothenate kinase 4,773aa) | g.1:2444469G>A,c.1585C>T,p.R529W |
| PANK4(NM_018216,pantothenate kinase 4,773aa) | g.1:2444414G>A,c.1640C>T,p.A547V |
| PANK4(NM_018216,pantothenate kinase 4,773aa) | g.1:2441358T>C,c.2051A>G,p.Q684R |
| PANK4(NM_018216,pantothenate kinase 4,773aa) | g.1:2440303C>T,c.2305G>A,p.E769K |
| PANK3(NM_024594,pantothenate kinase 3,370aa) | g.5:167988517C>T,c.817G>A,p.G273R |
| PANK2(NM_153638,pantothenate kinase 2,570aa) | g.20:3870124G>C,c.377G>C,p.G126A |
| PANK2(NM_153638,pantothenate kinase 2,570aa) | g.20:3870079T>A,c.332T>A,p.L111Q |
| PANK2(NM_153638,pantothenate kinase 2,570aa) | g.20:3870028G>C,c.281G>C,p.R94P |
| PANK2(NM_153638,pantothenate kinase 2,570aa) | g.20:3870027C>G,c.280C>G,p.R94G |
| PANK2(NM_153638,pantothenate kinase 2,570aa) | g.20:3869884A>T,c.137A>T,p.D46V |
| PANK1(NM_148977,pantothenate kinase 1,598aa) | g.10:91405044C>T,c.16G>A,p.G6S |
| PANK1(NM_148977,pantothenate kinase 1,598aa) | g.10:91404921A>G,c.139T>C,p.W47R |
| PANK1(NM_148977,pantothenate kinase 1,598aa) | g.10:91404729C>T,c.331G>A,p.G111R |
| PANK1(NM_148977,pantothenate kinase 1,598aa) | g.10:91371638C>T,c.871G>A,p.V291I |
| PAN3(NM_175854,PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae),887aa) | g.13:28866586C>G,c.2591C>G,p.T864S |
| PAN3(NM_175854,PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae),887aa) | g.13:28844967T>C,c.1922T>C,p.M641T |
| PAN3(NM_175854,PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae),887aa) | g.13:28834614A>G,c.1279A>G,p.T427A |