| 基因名 | 突变 |
|---|---|
| LOR(NM_000427,loricrin,312aa) | g.1:153234011T>G,c.586T>G,p.C196G |
| LOR(NM_000427,loricrin,312aa) | g.1:153233991_153233992insCTCTGGCGGCGG,c.566_567insCTCTGGCGGCGG,p.189ins4aa |
| LOR(NM_000427,loricrin,312aa) | g.1:153233510A>G,c.85A>G,p.S29G |
| LOR(NM_000427,loricrin,312aa) | g.1:153233488_153233489insGGCGGT,c.63_64insGGCGGT,p.21_22ins2aa |
| LONRF3(NM_001031855,LON peptidase N-terminal domain and ring finger 3,759aa) | g.X:118109108C>G,c.365C>G,p.A122G |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100938486C>T,c.70G>A,p.A24T |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100938481C>G,c.75G>C,p.Q25H |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100938226G>C,c.330C>G,p.D110E |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100938063G>A,c.493C>T,p.R165C |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100916235G>A,c.1211C>T,p.P404L |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100915772A>G,c.1277T>C,p.L426P |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100915736T>G,c.1313A>C,p.Q438P |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100915330G>T,c.1444C>A,p.H482N |
| LONRF2(NM_198461,LON peptidase N-terminal domain and ring finger 2,754aa) | g.2:100910695C>T,c.1753G>A,p.A585T |
| LONRF1(NM_152271,LON peptidase N-terminal domain and ring finger 1,773aa) | g.8:12612602C>T,c.328G>A,p.V110I |
| LONRF1(NM_152271,LON peptidase N-terminal domain and ring finger 1,773aa) | g.8:12600720T>A,c.793A>T,p.I265L |
| LONRF1(NM_152271,LON peptidase N-terminal domain and ring finger 1,773aa) | g.8:12594292C>T,c.1369G>A,p.V457I |
| LONP2(NM_031490,lon peptidase 2, peroxisomal,852aa) | g.16:48385559G>A,c.2405G>A,p.R802Q |
| LONP2(NM_031490,lon peptidase 2, peroxisomal,852aa) | g.16:48382140G>A,c.2276G>A,p.R759Q |
| LONP2(NM_031490,lon peptidase 2, peroxisomal,852aa) | g.16:48368208C>A,c.1877C>A,p.P626Q |
| LONP2(NM_031490,lon peptidase 2, peroxisomal,852aa) | g.16:48304124C>T,c.1180C>T,p.R394X |
| LONP2(NM_031490,lon peptidase 2, peroxisomal,852aa) | g.16:48295347C>T,c.736C>T,p.R246C |
| LONP2(NM_031490,lon peptidase 2, peroxisomal,852aa) | g.16:48292629C>G,c.701C>G,p.P234R |
| LONP2(NM_031490,lon peptidase 2, peroxisomal,852aa) | g.16:48286158A>C,c.350A>C,p.K117T |
| LONP1(NM_004793,lon peptidase 1, mitochondrial,959aa) | g.19:5720074G>T,c.70C>A,p.L24M |
| LONP1(NM_004793,lon peptidase 1, mitochondrial,959aa) | g.19:5720074G>C,c.70C>G,p.L24V |
| LONP1(NM_004793,lon peptidase 1, mitochondrial,959aa) | g.19:5719718G>C,c.426C>G,p.I142M |
| LONP1(NM_004793,lon peptidase 1, mitochondrial,959aa) | g.19:5714234C>T,c.478G>A,p.A160T |