| Genename | Variants |
|---|---|
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31084787A>G,c.605T>C,p.F202S |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31084435G>A,c.957C>T,p.Y319Y |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31084244C>T,c.1148G>A,p.G383D |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31084191T>C,c.1201A>G,p.S401G |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31084170A>C,c.1222T>G,p.S408A |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31084166C>A,c.1226G>T,p.G409V |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31084163A>G,c.1229T>C,p.L410S |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31084034C>T,c.1358G>A,p.S453N |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31083951C>T,c.1441G>A,p.A481T |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31083945C>T,c.1447G>A,p.A483T |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31083866A>G,c.1526T>C,p.L509P |
| CDSN(NM_001264,corneodesmosin,529aa) | g.6:31083813T>C,c.1579A>G,p.N527D |
| CDS2(NM_003818,CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2,445aa) | g.20:5170828G>A,c.1286G>A,p.R429Q |
| CDS2(NM_003818,CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2,445aa) | g.20:5157297A>T,c.295A>T,p.M99L |
| CDS1(NM_001263,CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1,461aa) | g.4:85530633G>T,c.297G>T,p.L99F |
| CDS1(NM_001263,CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1,461aa) | g.4:85525421G>C,c.143G>C,p.G48A |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15343531T>C,c.22A>G,p.K8E |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15343524C>T,c.28+1G>A,p.10Donor |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15343524_15343525insCTT,c.28insAAG,p.10ins1aa |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15341382C>T,c.167G>A,p.R56H |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15341332C>T,c.217G>A,p.V73I |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15341322G>A,c.227C>T,p.P76L |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15341271G>A,c.278C>T,p.T93M |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15341183A>C,c.366T>G,p.H122Q |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15341181G>A,c.368C>T,p.A123V |
| CDRT4(NM_001204477,CMT1A duplicated region transcript 4,152aa) | g.17:15341161T>C,c.388A>G,p.T130A |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15522759A>T,c.68T>A,p.I23N |
| CDRT1(NM_006382,CMT1A duplicated region transcript 1,752aa) | g.17:15522561C>T,c.266G>A,p.R89K |