Table 1 Pathogenic sequence variants identified in Czech probands with ichthyosis

1

ALOX12B

c.467_470dupATGT, p.(His158Cysfs*20)

c.1562A > G, p.(Tyr521Cys)

2

ALOX12B

c.581A > T, p.(Lys194*)

c.1562A > G, p.(Tyr521Cys)

3

ALOX12B

c.665A > T, p.(Lys222Ile)

c.1562A > G, p.(Tyr521Cys)

4

ALOX12B

c.787_789delTTC, p.(Phe262del)

c.1562A > G, p.(Tyr521Cys)

5

ALOX12B

c.1034-1035delTT, p.(Phe345Trpfs*28)

c.1790C > A, p.(Ala597Glu)

6

ALOX12B

1071G > C, p.(Gln357His)

c.1654 + 3A > G, r.(spl?)

7

ALOX12B

c.1156C > T, p.(Arg386Cys)

c.1654 + 3A > G,  r.(spl?)

8

ALOX12B

c.1156C > T, p.(Arg386Cys)

c.1790C > A, p.(Ala597Glu)

9

ALOX12B

c.1157G > A, p.(Arg386His)

c.1265C > T, p.(Pro422Leu)

10

ALOX12B

c.1157G > A, p.(Arg386His)

c.1562A > G, p.(Tyr521Cys)

11

ALOX12B

c.1294C > T, p.(Arg432*)

c.1562A > G, p.(Tyr521Cys)

12

ALOX12B

c.1405C > T, p.(Arg469Trp)

c.1454_1455delTT, p.(Phe485Cysfs*16)

13

ALOX12B

c.1448A > G, p.(Asn483Ser)

c.1562A > G, p.(Tyr521Cys)

14

ALOX12B

c.1496G > A, p.(Arg499His)

c.1496G > A, p.(Arg499His)

15

ALOX12B

c.1562A > G, p.(Tyr521Cys)

c.1688 T > C, p.(Leu563Pro)

16

ALOX12B

c.1562A > G, p.(Tyr521Cys)

c.1790C > A, p.(Ala597Glu)

17

ALOX12B

c.1562A > G, p.(Tyr521Cys)

c.1790C > A, p.(Ala597Glu)

18

ALOX12B

c.1918delG, p.(Asp640Thrfs*23)

c.1918delG, p.(Asp640Thrfs*23)

19

ALOXE3

c.36_39delACCT, p.(Tyr13*)

c.700C > T, p.(Arg234*)

20

ALOXE3

c.700C > T, p.(Arg234*)

c.700C > T, p.(Arg234*)

21

ALOXE3

c.700C > T, p.(Arg234*)

c.700C > T, p.(Arg234*)

22

ALOXE3

c.700C > T, p.(Arg234*)

c.700C > T, p.(Arg234*)

23

ALOXE3

c.700C > T, p.(Arg234*)

c.1889C > T, p.(Pro630Leu)

24

ALOXE3

c.700C > T, p.(Arg234*)

c.1889C > T, p.(Pro630Leu)

25

ALOXE3

c.1392 + 2 T > A,  r.spl?

c.1889C > T, p.(Pro630Leu)

26

ALOXE3

c.1889C > T, p.(Pro630Leu)

c.2097C > T, p.(Tyr699*)

27

ALOXE3

c.1889C > T, p.(Pro630Leu)

gross deletion

28

NIPAL4

c.527C > A, p.(Ala176Asp)

c.527C > A, p.(Ala176Asp)

29

NIPAL4

c.527C > A, p.(Ala176Asp)

c.527C > A, p.(Ala176Asp)

30

NIPAL4

c.527C > A, p.(Ala176Asp)

c.1010_1015dupTCAGCA, p.(Ser338_Thr339insIleSer)

31

NIPAL4

c.527C > A, p.(Ala176Asp)

c.1193dupT, p.(Val401Argfs*36)

32

NIPAL4

c.1063delC, p.(Leu355Trpfs*93)

c.1063delC, p.(Leu355Trpfs*93)

33

NIPAL4

c.1112C > G, p.(Ser371Leu)

c.1112C > G, p.(Ser371Leu)

34

CYP4F22

c.1A > G, (p. Met1?)

c.59dupG, p.(Ile21Hisfs*59)

35

CYP4F22

c.59dupG, p.(Ile21Hisfs*59)

c.59dupG, p.(Ile21Hisfs*59)

36

CYP4F22

c.59dupG, p.(Ile21Hisfs*59)

c.59dupG, p.(Ile21Hisfs*59)

37

CYP4F22

c.844C > T, p.(Arg282Trp)

c.1085G > A, p.(Arg362Gln)

38

CYP4F22

c.1085G > A, p.(Arg362Gln)

c.1085G > A, p.(Arg362Gln)

39

TGM1

c.376C > T, p.(Arg126Cys)

c.919C > T, p.(Arg307Trp)

40

TGM1

c.377G > A, p.(Arg126His)

c.377G > A, p.(Arg126His)

41

TGM1

c.425G > A, p.(Arg142His)

c.1184C > T p.(Thr395Ile)

42

TGM1

c.425G > A, p.(Arg142His)

c.2000 T > G, p.(Leu667Arg)

43

TGM1

c.968G > A, p.(Arg323Gln)

c.1135G > C, p.(Val379Leu)

44

TGM1

c.1310 T > G, p.(Val437Gly)

c.2307C > G, p.(Ser769Arg)

45

ABCA12

c.69G > A, p.(Pro23=), r.(spl?)

c.5641C > T, p.(Arg1881*)

46

ABCA12

c.483_484delCGinsT, p.(Ala162Hisfs*10)

c.4977G > A, p.(Glu1659=), r.(spl?)

47

ABCA12

c.2634C > G, p.(Phe878Leu)

c.4139A > G, p.(Asn1380Ser)

48

KRT1

c.532 T > C, p.(Ser178Pro)^a

–

49

KRT1

c.593C > T, p.(Val198Gly) ^b

–

50

KRT1

c.1016delT, p.(Met339Argfs*23)

–

51

KRT10

c.467G > A, p.(Arg156His)^b

–

52

KRT10

c.467G > A, p.(Arg156His)^b

–

53

KRT10

c.1373 + 1G > C, r.spl?

–

54

KRT10

c.1374-1G > C, r.spl?

–

55

KRT2

c.1435A > C, p.(Thr479Pro)^c

–

56

KRT2

c.1459G > A, p.(Glu487Lys)^c

–

57

STS

c.1330C > T, p.(His444Tyr)

–

58

STS

c.1338C > G, p.(Cys446Trp)

–

59

SPINK5

c.81 + 1G > A, r.spl?

c.1431-12G > A, r.(spl?)