No. | Gene | 1st allele (cDNA level, protein level) | 2nd allele (cDNA level, protein level) |
---|---|---|---|
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?) |
Open Access 01.12.2019 | Letter to the Editor
Inherited ichthyoses: molecular causes of the disease in Czech patients
Erschienen in: Orphanet Journal of Rare Diseases | Ausgabe 1/2019