| 基因名 | 突变 |
|---|---|
| CHPF2(NM_019015,chondroitin polymerizing factor 2,772aa) | g.7:150931237G>C,c.140G>C,p.G47A |
| CHP2(NM_022097,calcineurin-like EF-hand protein 2,196aa) | g.16:23768875C>T,c.562C>T,p.Q188X |
| CHP2(NM_022097,calcineurin-like EF-hand protein 2,196aa) | g.16:23768529G>A,c.422G>A,p.R141H |
| CHP2(NM_022097,calcineurin-like EF-hand protein 2,196aa) | g.16:23767738G>T,c.382G>T,p.D128Y |
| CHP2(NM_022097,calcineurin-like EF-hand protein 2,196aa) | g.16:23767434G>A,c.272G>A,p.R91H |
| CHP2(NM_022097,calcineurin-like EF-hand protein 2,196aa) | g.16:23767202G>A,c.175G>A,p.V59M |
| CHP2(NM_022097,calcineurin-like EF-hand protein 2,196aa) | g.16:23767051T>C,c.137T>C,p.L46P |
| CHORDC1(NM_012124,cysteine and histidine-rich domain (CHORD) containing 1,332aa) | g.11:89939421C>T,c.512G>A,p.S171N |
| CHORDC1(NM_012124,cysteine and histidine-rich domain (CHORD) containing 1,332aa) | g.11:89935586G>T,c.986C>A,p.A329D |
| CHODL(NM_024944,chondrolectin,273aa) | g.21:19638327C>G,c.794C>G,p.T265S |
| CHODL(NM_024944,chondrolectin,273aa) | g.21:19635116C>G,c.643C>G,p.P215A |
| CHODL(NM_024944,chondrolectin,273aa) | g.21:19629017G>A,c.271G>A,p.G91R |
| CHODL(NM_024944,chondrolectin,273aa) | g.21:19628918C>T,c.172C>T,p.R58C |
| CHODL(NM_024944,chondrolectin,273aa) | g.21:19628898G>A,c.152G>A,p.R51Q |
| CHN2(NM_004067,chimerin 2,468aa) | g.7:29552193G>A,c.1249G>A,p.E417K |
| CHN2(NM_004067,chimerin 2,468aa) | g.7:29552188T>G,c.1244T>G,p.M415R |
| CHN2(NM_004067,chimerin 2,468aa) | g.7:29539608C>G,c.865C>G,p.Q289E |
| CHN2(NM_004067,chimerin 2,468aa) | g.7:29519929A>G,c.611A>G,p.H204R |
| CHMP7(NM_152272,charged multivesicular body protein 7,453aa) | g.8:23117740C>T,c.1204C>T,p.P402S |
| CHMP7(NM_152272,charged multivesicular body protein 7,453aa) | g.8:23115562C>T,c.808C>T,p.R270C |
| CHMP7(NM_152272,charged multivesicular body protein 7,453aa) | g.8:23106860C>T,c.437C>T,p.A146V |
| CHMP4C(NM_152284,charged multivesicular body protein 4C,233aa) | g.8:82670771G>A,c.694G>A,p.A232T |
| CHMP4C(NM_152284,charged multivesicular body protein 4C,233aa) | g.8:82670381A>G,c.488A>G,p.E163G |
| CHMP4C(NM_152284,charged multivesicular body protein 4C,233aa) | g.8:82667690C>T,c.454C>T,p.R152W |
| CHMP4C(NM_152284,charged multivesicular body protein 4C,233aa) | g.8:82665477_82665480del,c.368+1del,p.123Donordel |
| CHMP4C(NM_152284,charged multivesicular body protein 4C,233aa) | g.8:82665301G>A,c.193G>A,p.A65T |
| CHMP4B(NM_176812,charged multivesicular body protein 4B,224aa) | g.20:32441321G>C,c.630G>C,p.E210D |
| CHMP4A(NM_014169,charged multivesicular body protein 4A,265aa) | g.14:24682767C>T,c.8G>A,p.R3Q |