| Genename | Variants |
|---|---|
| LEMD3(NM_014319,LEM domain containing 3,911aa) | g.12:65564479T>C,c.1103T>C,p.L368P |
| LEMD3(NM_014319,LEM domain containing 3,911aa) | g.12:65564289A>G,c.913A>G,p.R305G |
| LEMD3(NM_014319,LEM domain containing 3,911aa) | g.12:65564269C>T,c.893C>T,p.T298I |
| LEMD2(NM_181336,LEM domain containing 2,503aa) | g.6:33756817G>T,c.77C>A,p.T26N |
| LEMD2(NM_181336,LEM domain containing 2,503aa) | g.6:33756532G>A,c.362C>T,p.A121V |
| LEMD2(NM_181336,LEM domain containing 2,503aa) | g.6:33748867T>C,c.917A>G,p.Q306R |
| LEMD1(NM_001199050,LEM domain containing 1,181aa) | g.1:205389592G>A,c.73C>T,p.P25S |
| LEMD1(NM_001199050,LEM domain containing 1,181aa) | g.1:205388384C>G,c.179G>C,p.G60A |
| LEMD1(NM_001199050,LEM domain containing 1,181aa) | g.1:205385412A>G,c.218T>C,p.I73T |
| LEMD1(NM_001199050,LEM domain containing 1,181aa) | g.1:205353492A>C,c.271T>G,p.W91G |
| LEMD1(NM_001199050,LEM domain containing 1,181aa) | g.1:205353468G>A,c.295C>T,p.R99C |
| LELP1(NM_001010857,late cornified envelope-like proline-rich 1,98aa) | g.1:153177413C>T,c.230C>T,p.P77L |
| LELP1(NM_001010857,late cornified envelope-like proline-rich 1,98aa) | g.1:153177287G>A,c.104G>A,p.C35Y |
| LELP1(NM_001010857,late cornified envelope-like proline-rich 1,98aa) | g.1:153177193G>C,c.10G>C,p.D4H |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156763433T>A,c.1973T>A,p.V658E |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156763370G>A,c.1910G>A,p.R637H |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156763348G>A,c.1888G>A,p.G630R |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156763332A>C,c.1872A>C,p.R624S |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156746111G>A,c.1588G>A,p.E530K |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156742576G>A,c.1231G>A,p.A411T |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156697059G>C,c.822G>C,p.M274I |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156697055_156697056insT,c.818_819insT,p.273fs |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156697028C>T,c.791C>T,p.A264V |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156570686C>T,c.178C>T,p.R60C |
| LEKR1(NM_001004316,leucine, glutamate and lysine rich 1,692aa) | g.3:156570680G>A,c.172G>A,p.V58I |
| LEFTY2(NM_003240,left-right determination factor 2,366aa) | g.1:226128593C>T,c.248G>A,p.R83Q |
| LEFTY2(NM_003240,left-right determination factor 2,366aa) | g.1:226127678G>A,c.275C>T,p.S92L |
| LEFTY2(NM_003240,left-right determination factor 2,366aa) | g.1:226127528T>C,c.425A>G,p.Q142R |