| 基因名 | 突变 |
|---|---|
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67191507C>T,c.2288C>T,p.T763M |
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67190969C>T,c.1750C>T,p.R584W |
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67187018C>T,c.913C>T,p.R305W |
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67186995G>A,c.890G>A,p.R297Q |
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67186686G>A,c.824G>A,p.R275H |
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67186613C>G,c.751C>G,p.L251V |
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67186419G>A,c.557G>A,p.G186D |
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67186271C>A,c.409C>A,p.P137T |
| CARNS1(NM_001166222,carnosine synthase 1,950aa) | g.11:67184945G>A,c.71G>A,p.G24D |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111290803C>T,c.1108C>T,p.R370W |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111290746C>T,c.1051C>T,p.R351C |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111290630T>C,c.935T>C,p.I312T |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111290628G>C,c.933G>C,p.E311D |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111287908C>T,c.745C>T,p.R249C |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111287067C>T,c.595C>T,p.R199W |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111287047C>T,c.575C>T,p.P192L |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111279844G>A,c.445G>A,p.V149I |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111279830G>A,c.431G>A,p.R144Q |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111279829C>T,c.430C>T,p.R144W |
| CARKD(NM_018210,carbohydrate kinase domain containing,390aa) | g.13:111279817A>G,c.418A>G,p.K140E |
| CARHSP1(NM_001042476,calcium regulated heat stable protein 1, 24kDa,147aa) | g.16:8953112C>T,c.74G>A,p.R25Q |
| CARHSP1(NM_001042476,calcium regulated heat stable protein 1, 24kDa,147aa) | g.16:8953100C>T,c.86G>A,p.R29H |
| CARHSP1(NM_001042476,calcium regulated heat stable protein 1, 24kDa,147aa) | g.16:8953056G>C,c.130C>G,p.P44A |
| CARHSP1(NM_001042476,calcium regulated heat stable protein 1, 24kDa,147aa) | g.16:8952235C>T,c.253G>A,p.G85S |
| CARF(NM_024744,calcium responsive transcription factor,725aa) | g.2:203848342A>G,c.2173A>G,p.T725A |
| CARF(NM_024744,calcium responsive transcription factor,725aa) | g.2:203848307_203848308insA,c.2138_2139insA,p.713fs |
| CARF(NM_024744,calcium responsive transcription factor,725aa) | g.2:203848252A>T,c.2083A>T,p.I695F |
| CARF(NM_024744,calcium responsive transcription factor,725aa) | g.2:203847101C>T,c.1996C>T,p.R666W |