| 基因名 | 突变 |
|---|---|
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28712551C>G,c.2218G>C,p.G740R |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28712532G>A,c.2237C>T,p.T746M |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28711738A>G,c.2306T>C,p.V769A |
| DRP2(NM_001939,dystrophin related protein 2,957aa) | g.X:100503146G>A,c.1321G>A,p.V441M |
| DRP2(NM_001939,dystrophin related protein 2,957aa) | g.X:100496830A>G,c.733A>G,p.T245A |
| DRP2(NM_001939,dystrophin related protein 2,957aa) | g.X:100496750G>A,c.653G>A,p.R218H |
| DRP2(NM_001939,dystrophin related protein 2,957aa) | g.X:100493970G>A,c.439G>A,p.A147T |
| DRP2(NM_001939,dystrophin related protein 2,957aa) | g.X:100492609G>A,c.283G>A,p.A95T |
| DRP2(NM_001939,dystrophin related protein 2,957aa) | g.X:100490933G>C,c.202G>C,p.V68L |
| DRP2(NM_001939,dystrophin related protein 2,957aa) | g.X:100490911C>A,c.180C>A,p.S60R |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31526874G>A,c.166C>T,p.P56S |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31526792G>A,c.248C>T,p.P83L |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31526741G>A,c.299C>T,p.P100L |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31526531G>A,c.509C>T,p.P170L |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31526310G>C,c.730C>G,p.H244D |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31526246T>C,c.794A>G,p.Y265C |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31526205G>A,c.835C>T,p.R279C |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31515657G>A,c.962C>T,p.S321L |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31495479C>A,c.1669G>T,p.A557S |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31429602G>A,c.3196C>T,p.R1066C |
| DROSHA(NM_013235,drosha, ribonuclease type III,1374aa) | g.5:31424572G>A,c.3223C>T,p.R1075C |
| DRGX(NM_001276451,dorsal root ganglia homeobox,263aa) | g.10:50594808G>A,c.331C>T,p.P111S |
| DRGX(NM_001276451,dorsal root ganglia homeobox,263aa) | g.10:50594744G>A,c.395C>T,p.A132V |
| DRGX(NM_001276451,dorsal root ganglia homeobox,263aa) | g.10:50594628C>T,c.422G>A,p.R141Q |
| DRGX(NM_001276451,dorsal root ganglia homeobox,263aa) | g.10:50594625G>A,c.425C>T,p.T142M |
| DRGX(NM_001276451,dorsal root ganglia homeobox,263aa) | g.10:50594568G>A,c.482C>T,p.T161M |
| DRGX(NM_001276451,dorsal root ganglia homeobox,263aa) | g.10:50574403C>T,c.550G>A,p.V184I |
| DRG2(NM_001388,developmentally regulated GTP binding protein 2,364aa) | g.17:18004845_18004846insC,c.670_671insC,p.224fs |