HID SYNDROME
MCID: ICH035
MIFTS: 28

Ichthyosis, Hystrix-Like, with Deafness (HID SYNDROME)

Categories: Cancer diseases, Ear diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Ichthyosis, Hystrix-Like, with Deafness

MalaCards integrated aliases for Ichthyosis, Hystrix-Like, with Deafness:

Name: Ichthyosis, Hystrix-Like, with Deafness 57 43 70
Hystrix-Like Ichthyosis with Deafness 57 43 29 13 6 39
Hid Syndrome 57 43 72
Ichthyosis Hystrix-Like with Deafness Syndrome 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in first year of life
allelic to kid syndrome , dfna3 , dfnb1 , vohwinkel syndrome , keratoderma, palmoplantar with deafness
kid syndrome and hid syndrome are identical at the molecular level


HPO:

31
ichthyosis, hystrix-like, with deafness:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Ichthyosis, Hystrix-Like, with Deafness

MedlinePlus Genetics : 43 Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.Newborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.

MalaCards based summary : Ichthyosis, Hystrix-Like, with Deafness, also known as hystrix-like ichthyosis with deafness, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant. An important gene associated with Ichthyosis, Hystrix-Like, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and ichthyosis

UniProtKB/Swiss-Prot : 72 Ichthyosis hystrix-like with deafness syndrome: An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.

More information from OMIM: 602540

Related Diseases for Ichthyosis, Hystrix-Like, with Deafness

Diseases related to Ichthyosis, Hystrix-Like, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 keratitis-ichthyosis-deafness syndrome, autosomal dominant 11.5

Symptoms & Phenotypes for Ichthyosis, Hystrix-Like, with Deafness

Human phenotypes related to Ichthyosis, Hystrix-Like, with Deafness:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 ichthyosis 31 HP:0008064
3 palmoplantar keratoderma 31 HP:0000982
4 pes cavus 31 HP:0001761
5 absent eyelashes 31 HP:0000561
6 erythroderma 31 HP:0001019
7 sparse eyelashes 31 HP:0000653
8 squamous cell carcinoma 31 HP:0002860
9 scarring alopecia of scalp 31 HP:0004552
10 punctate keratitis 31 HP:0011859
11 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
ichthyosis
erythroderma
punctate keratitis
spiky hyperkeratosis
variable involvement of palms and soles

Head And Neck Eyes:
absent eyelashes

Skin Nails Hair Hair:
sparse eyebrows
scarring alopecia
absent-sparse eyelashes

Skeletal Feet:
pes cavus

Neoplasia:
squamous cell carcinoma

Head And Neck Ears:
deafness, sensorineural

Clinical features from OMIM®:

602540 (Updated 20-May-2021)

Drugs & Therapeutics for Ichthyosis, Hystrix-Like, with Deafness

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Hystrix-Like, with Deafness

Genetic Tests for Ichthyosis, Hystrix-Like, with Deafness

Genetic tests related to Ichthyosis, Hystrix-Like, with Deafness:

# Genetic test Affiliating Genes
1 Hystrix-Like Ichthyosis with Deafness 29 GJB2

Anatomical Context for Ichthyosis, Hystrix-Like, with Deafness

MalaCards organs/tissues related to Ichthyosis, Hystrix-Like, with Deafness:

40
Skin

Publications for Ichthyosis, Hystrix-Like, with Deafness

Articles related to Ichthyosis, Hystrix-Like, with Deafness:

(showing 17, show less)
# Title Authors PMID Year
1
HID and KID syndromes are associated with the same connexin 26 mutation. 6 57 61
12072059 2002
2
Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. 6
18843290 2009
3
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 6
17666888 2007
4
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. 6
17330861 2007
5
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 6
18294064 2007
6
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. 6
15633193 2005
7
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. 6
12548749 2003
8
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 6
12172392 2002
9
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 6
11912510 2002
10
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 6
10713883 2000
11
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 6
10376574 1999
12
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 6
9336442 1997
13
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 6
9328482 1997
14
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 6
9285800 1997
15
Ichthyosiform dermatosis and deafness. Report of a case and review of the literature. 57
3276270 1988
16
Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders. 61
29018324 2017
17
KID syndrome associated with features of ichthyosis hystrix. 61
10792799 2000

Variations for Ichthyosis, Hystrix-Like, with Deafness

ClinVar genetic disease variations for Ichthyosis, Hystrix-Like, with Deafness:

6 (showing 96, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB2 NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) SNV Pathogenic 17020 rs28931594 GRCh37: 13:20763573-20763573
GRCh38: 13:20189434-20189434
2 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 GRCh37: 13:20763438-20763438
GRCh38: 13:20189299-20189299
3 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
4 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic 163514 rs727503066 GRCh37: 13:20763342-20763342
GRCh38: 13:20189203-20189203
5 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic 550195 rs371024165 GRCh37: 13:20763627-20763627
GRCh38: 13:20189488-20189488
6 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
7 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
8 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
9 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) SNV Pathogenic 188830 rs104894413 GRCh37: 13:20763590-20763590
GRCh38: 13:20189451-20189451
10 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 GRCh37: 13:20763104-20763104
GRCh38: 13:20188965-20188965
11 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 GRCh37: 13:20763582-20763582
GRCh38: 13:20189443-20189443
12 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
13 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
14 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
15 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 GRCh37: 13:20763490-20763490
GRCh38: 13:20189351-20189351
16 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 GRCh37: 13:20763720-20763720
GRCh38: 13:20189581-20189581
17 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
18 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) SNV Pathogenic 265481 rs774518779 GRCh37: 13:20763215-20763215
GRCh38: 13:20189076-20189076
19 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
20 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Pathogenic 17000 rs35887622 GRCh37: 13:20763620-20763620
GRCh38: 13:20189481-20189481
21 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 GRCh37: 13:20763687-20763687
GRCh38: 13:20189548-20189548
22 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Likely pathogenic 17023 rs72474224 GRCh37: 13:20763612-20763612
GRCh38: 13:20189473-20189473
23 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Conflicting interpretations of pathogenicity 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
24 GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) SNV Uncertain significance 44765 rs111033194 GRCh37: 13:20763051-20763051
GRCh38: 13:20188912-20188912
25 GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) SNV Uncertain significance 44764 rs375599392 GRCh37: 13:20763058-20763058
GRCh38: 13:20188919-20188919
26 GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala) SNV Uncertain significance 177751 rs727504309 GRCh37: 13:20763533-20763533
GRCh38: 13:20189394-20189394
27 GJB2 NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) SNV Uncertain significance 631697 rs1291519904 GRCh37: 13:20763464-20763464
GRCh38: 13:20189325-20189325
28 GJB2 NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) SNV Uncertain significance 21385 rs80338946 GRCh37: 13:20763382-20763382
GRCh38: 13:20189243-20189243
29 GJB2 NM_004004.6(GJB2):c.-45C>A SNV Uncertain significance 44720 rs397516868 GRCh37: 13:20766944-20766944
GRCh38: 13:20192805-20192805
30 GJB2 NM_004004.6(GJB2):c.-170C>G SNV Uncertain significance 881615 GRCh37: 13:20767069-20767069
GRCh38: 13:20192930-20192930
31 GJB2 NM_004004.6(GJB2):c.*1291_*1294del Deletion Uncertain significance 311352 rs886050025 GRCh37: 13:20761746-20761749
GRCh38: 13:20187607-20187610
32 GJB2 NM_004004.6(GJB2):c.*114T>C SNV Uncertain significance 311370 rs182085649 GRCh37: 13:20762926-20762926
GRCh38: 13:20188787-20188787
33 GJB2 NM_004004.6(GJB2):c.*1206T>G SNV Uncertain significance 311354 rs886050026 GRCh37: 13:20761834-20761834
GRCh38: 13:20187695-20187695
34 GJB2 NM_004004.6(GJB2):c.*423C>T SNV Uncertain significance 311367 rs112457424 GRCh37: 13:20762617-20762617
GRCh38: 13:20188478-20188478
35 GJB2 NM_004004.6(GJB2):c.*598C>A SNV Uncertain significance 311364 rs550600399 GRCh37: 13:20762442-20762442
GRCh38: 13:20188303-20188303
36 GJB2 NM_004004.6(GJB2):c.*412A>C SNV Uncertain significance 311368 rs547859391 GRCh37: 13:20762628-20762628
GRCh38: 13:20188489-20188489
37 GJB2 NM_004004.6(GJB2):c.*979A>G SNV Uncertain significance 311360 rs546826225 GRCh37: 13:20762061-20762061
GRCh38: 13:20187922-20187922
38 GJB2 NM_004004.6(GJB2):c.*544T>C SNV Uncertain significance 311365 rs564755659 GRCh37: 13:20762496-20762496
GRCh38: 13:20188357-20188357
39 GJB2 NM_004004.6(GJB2):c.*482A>G SNV Uncertain significance 311366 rs886050028 GRCh37: 13:20762558-20762558
GRCh38: 13:20188419-20188419
40 GJB2 NM_004004.6(GJB2):c.*800A>G SNV Uncertain significance 311362 rs886050027 GRCh37: 13:20762240-20762240
GRCh38: 13:20188101-20188101
41 GJB2 NM_004004.6(GJB2):c.*1040A>G SNV Uncertain significance 880907 GRCh37: 13:20762000-20762000
GRCh38: 13:20187861-20187861
42 GJB2 NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) SNV Uncertain significance 881103 GRCh37: 13:20763525-20763525
GRCh38: 13:20189386-20189386
43 GJB2 NM_004004.6(GJB2):c.174A>G (p.Pro58=) SNV Uncertain significance 881104 GRCh37: 13:20763547-20763547
GRCh38: 13:20189408-20189408
44 GJB2 NM_004004.6(GJB2):c.*385G>C SNV Uncertain significance 882320 GRCh37: 13:20762655-20762655
GRCh38: 13:20188516-20188516
45 GJB2 NM_004004.6(GJB2):c.*308G>A SNV Uncertain significance 882321 GRCh37: 13:20762732-20762732
GRCh38: 13:20188593-20188593
46 GJB2 NM_004004.6(GJB2):c.*52C>T SNV Uncertain significance 882374 GRCh37: 13:20762988-20762988
GRCh38: 13:20188849-20188849
47 GJB2 NM_004004.6(GJB2):c.*679T>C SNV Uncertain significance 882542 GRCh37: 13:20762361-20762361
GRCh38: 13:20188222-20188222
48 GJB2 NM_004004.6(GJB2):c.*236A>T SNV Uncertain significance 882589 GRCh37: 13:20762804-20762804
GRCh38: 13:20188665-20188665
49 GJB2 NM_004004.6(GJB2):c.*115A>C SNV Uncertain significance 882590 GRCh37: 13:20762925-20762925
GRCh38: 13:20188786-20188786
50 GJB2 NM_004004.6(GJB2):c.557C>T (p.Thr186Met) SNV Uncertain significance 882640 GRCh37: 13:20763164-20763164
GRCh38: 13:20189025-20189025
51 GJB2 NM_004004.6(GJB2):c.287C>G (p.Ala96Gly) SNV Uncertain significance 882688 GRCh37: 13:20763434-20763434
GRCh38: 13:20189295-20189295
52 GJB2 NM_004004.6(GJB2):c.60T>G (p.Ile20Met) SNV Uncertain significance 438615 rs749693224 GRCh37: 13:20763661-20763661
GRCh38: 13:20189522-20189522
53 GJB2 NM_004004.6(GJB2):c.*550A>G SNV Uncertain significance 883325 GRCh37: 13:20762490-20762490
GRCh38: 13:20188351-20188351
54 GJB2 NM_004004.6(GJB2):c.-1G>A SNV Uncertain significance 883513 GRCh37: 13:20763721-20763721
GRCh38: 13:20189582-20189582
55 GJB2 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) SNV Likely benign 188488 rs150529554 GRCh37: 13:20763366-20763366
GRCh38: 13:20189227-20189227
56 GJB2 NM_004004.6(GJB2):c.546G>A (p.Val182=) SNV Likely benign 882641 GRCh37: 13:20763175-20763175
GRCh38: 13:20189036-20189036
57 GJB2 NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) SNV Likely benign 177736 rs376898963 GRCh37: 13:20763228-20763228
GRCh38: 13:20189089-20189089
58 GJB2 NM_004004.6(GJB2):c.120A>C (p.Ala40=) SNV Likely benign 195206 rs561870637 GRCh37: 13:20763601-20763601
GRCh38: 13:20189462-20189462
59 GJB2 NM_004004.6(GJB2):c.241C>G (p.Leu81Val) SNV Likely benign 311372 rs145216882 GRCh37: 13:20763480-20763480
GRCh38: 13:20189341-20189341
60 GJB2 NM_004004.6(GJB2):c.37G>A (p.Val13Met) SNV Likely benign 632210 rs768130937 GRCh37: 13:20763684-20763684
GRCh38: 13:20189545-20189545
61 GJB2 NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) SNV Likely benign 44724 rs111033222 GRCh37: 13:20763710-20763710
GRCh38: 13:20189571-20189571
62 GJB2 NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) SNV Likely benign 44732 rs111033218 GRCh37: 13:20763472-20763472
GRCh38: 13:20189333-20189333
63 GJB2 NM_004004.6(GJB2):c.*1C>T SNV Likely benign 44715 rs111033327 GRCh37: 13:20763039-20763039
GRCh38: 13:20188900-20188900
64 GJB2 NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) SNV Likely benign 44755 rs34988750 GRCh37: 13:20763243-20763243
GRCh38: 13:20189104-20189104
65 GJB2 NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) SNV Likely benign 44743 rs111033188 GRCh37: 13:20763353-20763353
GRCh38: 13:20189214-20189214
66 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Likely benign 17000 rs35887622 GRCh37: 13:20763620-20763620
GRCh38: 13:20189481-20189481
67 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Likely benign 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
68 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Likely benign 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
69 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Likely benign 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
70 GJB2 NM_004004.6(GJB2):c.-6T>A SNV Benign 44721 rs148136545 GRCh37: 13:20763726-20763726
GRCh38: 13:20189587-20189587
71 GJB2 NM_004004.6(GJB2):c.-22-6T>C SNV Benign 228700 rs141962118 GRCh37: 13:20763748-20763748
GRCh38: 13:20189609-20189609
72 GJB2 NM_004004.6(GJB2):c.457G>A (p.Val153Ile) SNV Benign 44754 rs111033186 GRCh37: 13:20763264-20763264
GRCh38: 13:20189125-20189125
73 GJB2 NM_004004.6(GJB2):c.380G>A (p.Arg127His) SNV Benign 44745 rs111033196 GRCh37: 13:20763341-20763341
GRCh38: 13:20189202-20189202
74 GJB2 NM_004004.6(GJB2):c.-22-2A>C SNV Benign 375406 rs201895089 GRCh37: 13:20763744-20763744
GRCh38: 13:20189605-20189605
75 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Benign 17023 rs72474224 GRCh37: 13:20763612-20763612
GRCh38: 13:20189473-20189473
76 GJB2 NM_004004.6(GJB2):c.79G>A (p.Val27Ile) SNV Benign 36279 rs2274084 GRCh37: 13:20763642-20763642
GRCh38: 13:20189503-20189503
77 GJB2 NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) SNV Benign 44739 rs2274083 GRCh37: 13:20763380-20763380
GRCh38: 13:20189241-20189241
78 GJB2 NM_004004.6(GJB2):c.*931C>T SNV Benign 311361 rs5030700 GRCh37: 13:20762109-20762109
GRCh38: 13:20187970-20187970
79 GJB2 NM_004004.6(GJB2):c.*1152G>A SNV Benign 311356 rs7623 GRCh37: 13:20761888-20761888
GRCh38: 13:20187749-20187749
80 GJB2 NM_004004.5(GJB2):c.*1447G>A SNV Benign 369056 rs11839674 GRCh37: 13:20761593-20761593
GRCh38: 13:20187454-20187454
81 GJB2 NM_004004.6(GJB2):c.-15C>T SNV Benign 94388 rs72561725 GRCh37: 13:20763735-20763735
GRCh38: 13:20189596-20189596
82 GJB2 NM_004004.6(GJB2):c.-22-12C>T SNV Benign 44717 rs9578260 GRCh37: 13:20763754-20763754
GRCh38: 13:20189615-20189615
83 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Benign 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
84 GJB2 NM_004004.6(GJB2):c.*1033G>A SNV Benign 311358 rs185790172 GRCh37: 13:20762007-20762007
GRCh38: 13:20187868-20187868
85 GJB2 NM_004004.6(GJB2):c.*104A>T SNV Benign 311371 rs7337074 GRCh37: 13:20762936-20762936
GRCh38: 13:20188797-20188797
86 GJB2 NM_004004.6(GJB2):c.*1067G>T SNV Benign 311357 rs9237 GRCh37: 13:20761973-20761973
GRCh38: 13:20187834-20187834
87 GJB2 NM_004004.6(GJB2):c.*1277T>C SNV Benign 311353 rs7988691 GRCh37: 13:20761763-20761763
GRCh38: 13:20187624-20187624
88 GJB2 NM_004004.6(GJB2):c.*786G>A SNV Benign 311363 rs187158699 GRCh37: 13:20762254-20762254
GRCh38: 13:20188115-20188115
89 GJB2 NM_004004.6(GJB2):c.*1197T>A SNV Benign 311355 rs11841182 GRCh37: 13:20761843-20761843
GRCh38: 13:20187704-20187704
90 GJB2 NM_004004.6(GJB2):c.*1016A>G SNV Benign 311359 rs537683957 GRCh37: 13:20762024-20762024
GRCh38: 13:20187885-20187885
91 GJB2 NM_004004.6(GJB2):c.*3C>A SNV Benign 44716 rs111033460 GRCh37: 13:20763037-20763037
GRCh38: 13:20188898-20188898
92 GJB2 NM_004004.6(GJB2):c.*168A>G SNV Benign 311369 rs55704559 GRCh37: 13:20762872-20762872
GRCh38: 13:20188733-20188733
93 GJB2 NM_004004.6(GJB2):c.*111C>T SNV Benign 36278 rs7329857 GRCh37: 13:20762929-20762929
GRCh38: 13:20188790-20188790
94 GJB2 NM_004004.6(GJB2):c.*84T>C SNV Benign 36277 rs3751385 GRCh37: 13:20762956-20762956
GRCh38: 13:20188817-20188817
95 GJB2 NM_004004.6(GJB2):c.510C>T (p.Asn170=) SNV Benign 633243 rs763068053 GRCh37: 13:20763211-20763211
GRCh38: 13:20189072-20189072
96 GJB2 NM_004004.5(GJB2):c.-216T>G SNV Benign 163525 rs574815423 GRCh37: 13:20767115-20767115
GRCh38: 13:20192976-20192976

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Hystrix-Like, with Deafness:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Asp50Asn VAR_015456 rs28931594

Cosmic variations for Ichthyosis, Hystrix-Like, with Deafness:

9 (showing 345, show less)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM106059757 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
2 COSM112354551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
3 COSM111759858 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
4 COSM145161899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
5 COSM112254266 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
6 COSM145019215 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
7 COSM144309924 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
8 COSM144087977 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
9 COSM93190386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
10 COSM106059965 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
11 COSM105621918 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+417G>A p.? 17:7673764-7673764 8
12 COSM143386984 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 8
13 COSM122787283 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 8
14 COSM144213765 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 8
15 COSM111765517 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
16 COSM142560894 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
17 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
18 COSM145018355 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
19 COSM143465962 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
20 COSM144651848 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
21 COSM105636071 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
22 COSM144311386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
23 COSM106053786 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
24 COSM144757328 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
25 COSM143945161 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
26 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
27 COSM121884502 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
28 COSM144315643 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 8
29 COSM142566904 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 8
30 COSM111807840 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
31 COSM144652672 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
32 COSM143000079 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
33 COSM105621045 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
34 COSM93198616 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
35 COSM105627660 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
36 COSM144650760 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
37 COSM111909038 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
38 COSM144087357 TP53 skin,hand,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 8
39 COSM106067323 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
40 COSM144014790 TP53 skin,hand,carcinoma,squamous cell carcinoma c.823G>A p.E275K 17:7673764-7673764 8
41 COSM122278245 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
42 COSM122740574 TP53 skin,hand,carcinoma,squamous cell carcinoma c.251T>A p.V84E 17:7674884-7674884 8
43 COSM105627464 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
44 COSM112268626 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
45 COSM144440622 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
46 COSM93190806 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
47 COSM106140358 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
48 COSM142838326 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
49 COSM122272113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.277-1G>A p.? 17:7674291-7674291 8
50 COSM111758217 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
51 COSM142877010 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
52 COSM142662356 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
53 COSM145097887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>C p.A150P 17:7674966-7674966 8
54 COSM144092551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.532G>C p.A178P 17:7674966-7674966 8
55 COSM142967385 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
56 COSM142923652 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
57 COSM122272986 TP53 skin,hand,carcinoma,squamous cell carcinoma c.460G>A p.E154K 17:7673764-7673764 8
58 COSM144020017 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
59 COSM121876649 TP53 skin,hand,carcinoma,squamous cell carcinoma c.164-1G>A p.? 17:7674972-7674972 8
60 COSM93372466 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
61 COSM111759225 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
62 COSM105722582 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
63 COSM122320045 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 8
64 COSM112410497 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
65 COSM143371275 TP53 skin,hand,carcinoma,squamous cell carcinoma c.443-1G>A p.? 17:7674972-7674972 8
66 COSM112253106 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
67 COSM144658487 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 8
68 COSM87906137 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
69 COSM142566690 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 8
70 COSM143157097 TP53 skin,hand,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 8
71 COSM144310805 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
72 COSM144667530 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 8
73 COSM145024713 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 8
74 COSM111774161 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
75 COSM106054649 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
76 COSM106152243 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
77 COSM105734600 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
78 COSM112259828 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
79 COSM143372155 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
80 COSM93271531 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
81 COSM144013794 TP53 skin,hand,carcinoma,squamous cell carcinoma c.527-1G>A p.? 17:7674972-7674972 8
82 COSM143199658 TP53 skin,hand,carcinoma,squamous cell carcinoma c.368G>C p.R123P 17:7673775-7673775 8
83 COSM93234437 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
84 COSM105680041 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+406G>C p.? 17:7673775-7673775 8
85 COSM106053557 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
86 COSM122734676 TP53 skin,hand,carcinoma,squamous cell carcinoma c.277-1G>A p.? 17:7674291-7674291 8
87 COSM122893712 TP53 skin,hand,carcinoma,squamous cell carcinoma c.554A>G p.Q185R 17:7673578-7673578 8
88 COSM122735403 TP53 skin,hand,carcinoma,squamous cell carcinoma c.460G>A p.E154K 17:7673764-7673764 8
89 COSM87915681 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
90 COSM145018066 TP53 skin,hand,carcinoma,squamous cell carcinoma c.443-1G>A p.? 17:7674972-7674972 8
91 COSM143944281 TP53 skin,hand,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 8
92 COSM143943546 TP53 skin,hand,carcinoma,squamous cell carcinoma c.341G>A p.R114H 17:7673802-7673802 8
93 COSM111940676 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
94 COSM144651592 TP53 skin,hand,carcinoma,squamous cell carcinoma c.443-1G>A p.? 17:7674972-7674972 8
95 COSM144149630 TP53 skin,hand,carcinoma,squamous cell carcinoma c.917A>G p.Q306R 17:7673578-7673578 8
96 COSM143989481 TP53 skin,hand,carcinoma,squamous cell carcinoma c.368G>C p.R123P 17:7673775-7673775 8
97 COSM145024915 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 8
98 COSM112302462 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
99 COSM143288915 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 8
100 COSM122734499 TP53 skin,hand,carcinoma,squamous cell carcinoma c.164-1G>A p.? 17:7674972-7674972 8
101 COSM121878041 TP53 skin,hand,carcinoma,squamous cell carcinoma c.460G>A p.E154K 17:7673764-7673764 8
102 COSM142650562 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>C p.A150P 17:7674966-7674966 8
103 COSM122042039 TP53 skin,hand,carcinoma,squamous cell carcinoma c.554A>G p.Q185R 17:7673578-7673578 8
104 COSM88075392 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
105 COSM87897711 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
106 COSM142848375 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
107 COSM112254871 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
108 COSM121875541 TP53 skin,hand,carcinoma,squamous cell carcinoma c.422G>A p.R141H 17:7673802-7673802 8
109 COSM143370575 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
110 COSM144350537 TP53 skin,hand,carcinoma,squamous cell carcinoma c.728G>C p.R243P 17:7673775-7673775 8
111 COSM122271928 TP53 skin,hand,carcinoma,squamous cell carcinoma c.164-1G>A p.? 17:7674972-7674972 8
112 COSM143162544 TP53 skin,hand,carcinoma,squamous cell carcinoma c.170T>A p.V57E 17:7674884-7674884 8
113 COSM112253995 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
114 COSM144082794 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 8
115 COSM142560684 TP53 skin,hand,carcinoma,squamous cell carcinoma c.443-1G>A p.? 17:7674972-7674972 8
116 COSM142611019 TP53 skin,hand,carcinoma,squamous cell carcinoma c.728G>C p.R243P 17:7673775-7673775 8
117 COSM93184402 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
118 COSM142574735 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 8
119 COSM105620775 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
120 COSM143378036 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 8
121 COSM106238168 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
122 COSM106206521 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
123 COSM143371523 TP53 skin,hand,carcinoma,squamous cell carcinoma c.556-1G>A p.? 17:7674291-7674291 8
124 COSM143156594 TP53 skin,hand,carcinoma,squamous cell carcinoma c.341G>A p.R114H 17:7673802-7673802 8
125 COSM142837852 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 8
126 COSM87955907 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
127 COSM145062744 TP53 skin,hand,carcinoma,squamous cell carcinoma c.728G>C p.R243P 17:7673775-7673775 8
128 COSM144014063 TP53 skin,hand,carcinoma,squamous cell carcinoma c.640-1G>A p.? 17:7674291-7674291 8
129 COSM145110221 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
130 COSM144393800 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>A p.A150T 17:7674966-7674966 8
131 COSM145017297 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
132 COSM93183281 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
133 COSM121876932 TP53 skin,hand,carcinoma,squamous cell carcinoma c.277-1G>A p.? 17:7674291-7674291 8
134 COSM143949709 TP53 skin,hand,carcinoma,squamous cell carcinoma c.170T>A p.V57E 17:7674884-7674884 8
135 COSM143455681 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>C p.A150P 17:7674966-7674966 8
136 COSM145195294 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473T>C p.V158A 17:7674941-7674941 8
137 COSM111862358 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
138 COSM93185054 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
139 COSM105793631 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+603A>G p.? 17:7673578-7673578 8
140 COSM87906379 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
141 COSM112259993 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
142 COSM144125404 TP53 skin,hand,carcinoma,squamous cell carcinoma c.368G>C p.R123P 17:7673775-7673775 8
143 COSM144315802 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 8
144 COSM142561493 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 8
145 COSM105829831 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
146 COSM142714309 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
147 COSM111765785 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
148 COSM142842503 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 8
149 COSM144180373 TP53 skin,hand,carcinoma,squamous cell carcinoma c.557T>C p.V186A 17:7674941-7674941 8
150 COSM144086947 TP53 skin,hand,carcinoma,squamous cell carcinoma c.341G>A p.R114H 17:7673802-7673802 8
151 COSM142559879 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
152 COSM143944527 TP53 skin,hand,carcinoma,squamous cell carcinoma c.196-1G>A p.? 17:7674291-7674291 8
153 COSM142842381 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
154 COSM144087508 TP53 skin,hand,carcinoma,squamous cell carcinoma c.196-1G>A p.? 17:7674291-7674291 8
155 COSM87898836 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
156 COSM143521252 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
157 COSM143417760 TP53 skin,hand,carcinoma,squamous cell carcinoma c.728G>C p.R243P 17:7673775-7673775 8
158 COSM144854383 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473T>C p.V158A 17:7674941-7674941 8
159 COSM144058998 TP53 skin,hand,carcinoma,squamous cell carcinoma c.812G>C p.R271P 17:7673775-7673775 8
160 COSM143158111 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 8
161 COSM93283203 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
162 COSM106052890 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
163 COSM144658966 TP53 skin,hand,carcinoma,squamous cell carcinoma c.530T>A p.V177E 17:7674884-7674884 8
164 COSM143157284 TP53 skin,hand,carcinoma,squamous cell carcinoma c.196-1G>A p.? 17:7674291-7674291 8
165 COSM145031769 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 8
166 COSM121929320 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 8
167 COSM142747191 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473T>C p.V158A 17:7674941-7674941 8
168 COSM112443850 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
169 COSM142913458 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
170 COSM112341690 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
171 COSM111758996 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
172 COSM93184116 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
173 COSM93340216 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 8
174 COSM144384893 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>C p.A150P 17:7674966-7674966 8
175 COSM122271260 TP53 skin,hand,carcinoma,squamous cell carcinoma c.422G>A p.R141H 17:7673802-7673802 8
176 COSM106100814 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 8
177 COSM144013089 TP53 skin,hand,carcinoma,squamous cell carcinoma c.785G>A p.R262H 17:7673802-7673802 8
178 COSM144817548 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 8
179 COSM122425739 TP53 skin,hand,carcinoma,squamous cell carcinoma c.554A>G p.Q185R 17:7673578-7673578 8
180 COSM143377801 TP53 skin,hand,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 8
181 COSM142837073 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
182 COSM144322257 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 8
183 COSM144469089 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473T>C p.V158A 17:7674941-7674941 8
184 COSM105619828 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+379G>A p.? 17:7673802-7673802 8
185 COSM144020172 TP53 skin,hand,carcinoma,squamous cell carcinoma c.614T>A p.V205E 17:7674884-7674884 8
186 COSM144091899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.170T>A p.V57E 17:7674884-7674884 8
187 COSM144744438 TP53 skin,hand,carcinoma,squamous cell carcinoma c.448G>C p.A150P 17:7674966-7674966 8
188 COSM88003756 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
189 COSM88016543 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 8
190 COSM88117113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 8
191 COSM144026836 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 8
192 COSM143550258 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473T>C p.V158A 17:7674941-7674941 8
193 COSM144101792 TP53 skin,hand,carcinoma,squamous cell carcinoma c.532G>A p.A178T 17:7674966-7674966 8
194 COSM111851196 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 8
195 COSM142837664 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
196 COSM144701854 TP53 skin,hand,carcinoma,squamous cell carcinoma c.728G>C p.R243P 17:7673775-7673775 8
197 COSM122733862 TP53 skin,hand,carcinoma,squamous cell carcinoma c.422G>A p.R141H 17:7673802-7673802 8
198 COSM144310575 TP53 skin,hand,carcinoma,squamous cell carcinoma c.443-1G>A p.? 17:7674972-7674972 8
199 COSM97110376 NRAS skin,hand,carcinoma,squamous cell carcinoma c.395A>G p.E132G 1:114709624-114709624 8
200 COSM138973310 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.755C>T p.T252I 1:119986962-119986962 8
201 COSM138966570 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.871T>C p.W291R 1:119969631-119969631 8
202 COSM88392222 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6662T>C p.V2221A 1:119916060-119916060 8
203 COSM138974552 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1683G>A p.M561I 1:119963689-119963689 8
204 COSM138965051 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.220C>T p.R74* 1:120005407-120005407 8
205 COSM88392238 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1340G>A p.G447D 1:119967546-119967546 8
206 COSM88408801 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1800G>A p.M600I 1:119963689-119963689 8
207 COSM88392232 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3293G>A p.C1098Y 1:119937901-119937901 8
208 COSM88393300 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5123C>T p.S1708F 1:119922326-119922326 8
209 COSM138966557 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1223G>A p.G408D 1:119967546-119967546 8
210 COSM88390873 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.863C>T p.P288L 1:119986971-119986971 8
211 COSM88407043 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3425C>T p.T1142I 1:119937379-119937379 8
212 COSM88409291 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3100T>C p.C1034R 1:119940638-119940638 8
213 COSM88407049 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.872C>T p.T291I 1:119986962-119986962 8
214 COSM88398931 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6964C>T p.P2322S 1:119915758-119915758 8
215 COSM88399145 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.2581T>G p.C861G 1:119949025-119949025 8
216 COSM143242129 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.220C>T p.R74* 1:120005407-120005407 8
217 COSM88392225 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5782-1G>A p.? 1:119918554-119918554 8
218 COSM88388711 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 8
219 COSM88408809 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1640G>A p.C547Y 1:119965494-119965494 8
220 COSM138974559 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1523G>A p.C508Y 1:119965494-119965494 8
221 COSM88392244 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.988T>C p.W330R 1:119969631-119969631 8
222 COSM138965976 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.746C>T p.P249L 1:119986971-119986971 8
223 COSM88406295 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.4966C>T p.Q1656* 1:119922672-119922672 8
224 COSM88404616 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.7078C>A p.Q2360K 1:119915644-119915644 8
225 COSM87648187 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5057T>C p.V1686A 9:136503292-136503292 8
226 COSM87685993 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4411G>A p.A1471T 9:136505485-136505485 8
227 COSM87695196 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1631T>C p.L544P 9:136516019-136516019 8
228 COSM87675424 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6787C>T p.R2263W 9:136496952-136496952 8
229 COSM87695244 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.2536C>T p.Q846* 9:136511203-136511203 8
230 COSM87644755 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1393G>A p.A465T 9:136517800-136517800 8
231 COSM87692759 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5042A>G p.D1681G 9:136503307-136503307 8
232 COSM87695180 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4022A>G p.E1341G 9:136505874-136505874 8
233 COSM87695130 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4382A>G p.K1461R 9:136505514-136505514 8
234 COSM87642057 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.403+1G>A p.? 9:136523716-136523716 8
235 COSM87676058 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1172C>T p.P391L 9:136518220-136518220 8
236 COSM87676041 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1433G>A p.C478Y 9:136517760-136517760 8
237 COSM87655013 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6979C>T p.R2327W 9:136496760-136496760 8
238 COSM87645862 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5624A>G p.N1875S 9:136501762-136501762 8
239 COSM87641461 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1093C>T p.R365C 9:136518597-136518597 8
240 COSM87669475 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.2297G>A p.G766D 9:136513448-136513448 8
241 COSM87645875 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1523A>G p.K508R 9:136517304-136517304 8
242 COSM87688168 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4160C>T p.A1387V 9:136505736-136505736 8
243 COSM87668736 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6130G>A p.A2044T 9:136498949-136498949 8
244 COSM87674481 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.3172-1G>A p.? 9:136508386-136508386 8
245 COSM87648862 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1522A>T p.K508* 9:136517305-136517305 8
246 COSM87701729 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4435T>C p.C1479R 9:136505461-136505461 8
247 COSM87669430 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6740T>C p.L2247P 9:136496999-136496999 8
248 COSM87688152 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4202G>A p.G1401E 9:136505694-136505694 8
249 COSM87676090 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.389C>G p.P130R 9:136523731-136523731 8
250 COSM87683772 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1100G>A p.G367D 9:136518292-136518292 8
251 COSM87652778 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1280G>A p.G427D 9:136517913-136517913 8
252 COSM87669491 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1382G>A p.C461Y 9:136517811-136517811 8
253 COSM87701738 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4435T>G p.C1479G 9:136505461-136505461 8
254 COSM87652647 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1405G>A p.D469N 9:136517788-136517788 8
255 COSM87651604 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.415C>T p.Q139* 9:136523177-136523177 8
256 COSM87686019 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1099+1G>A p.? 9:136518590-136518590 8
257 COSM87648117 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4015-1G>A p.? 9:136505882-136505882 8
258 COSM87645850 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6757C>A p.P2253T 9:136496982-136496982 8
259 COSM87695166 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4037A>G p.E1346G 9:136505859-136505859 8
260 COSM87669449 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6679C>T p.P2227S 9:136497060-136497060 8
261 COSM87701795 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1135A>G p.N379D 9:136518257-136518257 8
262 COSM87692735 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.7640T>C p.I2547T 9:136496099-136496099 8
263 COSM87645884 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1270G>A p.E424K 9:136517923-136517923 8
264 COSM87685972 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6160A>T p.K2054* 9:136498919-136498919 8
265 COSM87692746 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.7577A>G p.H2526R 9:136496162-136496162 8
266 COSM87695229 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.3736G>C p.D1246H 9:136506881-136506881 8
267 COSM134990158 KRAS skin,hand,carcinoma,squamous cell carcinoma c.35G>T p.G12V 12:25245350-25245350 8
268 COSM134666848 KRAS skin,hand,carcinoma,squamous cell carcinoma c.112-17341A>G p.? 12:25227252-25227252 8
269 COSM91923925 KRAS skin,hand,carcinoma,squamous cell carcinoma c.151T>C p.C51R 12:25227373-25227373 8
270 COSM134990112 KRAS skin,hand,carcinoma,squamous cell carcinoma c.35G>A p.G12D 12:25245350-25245350 8
271 COSM87920984 KRAS skin,hand,carcinoma,squamous cell carcinoma c.527A>C p.K176T 12:25215484-25215484 8
272 COSM134614978 KRAS skin,hand,carcinoma,squamous cell carcinoma c.35G>T p.G12V 12:25245350-25245350 8
273 COSM91859752 KRAS skin,hand,carcinoma,squamous cell carcinoma c.35G>T p.G12V 12:25245350-25245350 8
274 COSM87804055 KRAS skin,hand,carcinoma,squamous cell carcinoma c.35G>T p.G12V 12:25245350-25245350 8
275 COSM134614922 KRAS skin,hand,carcinoma,squamous cell carcinoma c.35G>A p.G12D 12:25245350-25245350 8
276 COSM134686522 KRAS skin,hand,carcinoma,squamous cell carcinoma c.112-17462T>C p.? 12:25227373-25227373 8
277 COSM91859716 KRAS skin,hand,carcinoma,squamous cell carcinoma c.35G>A p.G12D 12:25245350-25245350 8
278 COSM91907300 KRAS skin,hand,carcinoma,squamous cell carcinoma c.272A>G p.E91G 12:25227252-25227252 8
279 COSM91965238 KRAS skin,hand,carcinoma,squamous cell carcinoma c.451-5573A>C p.? 12:25215484-25215484 8
280 COSM87804005 KRAS skin,hand,carcinoma,squamous cell carcinoma c.35G>A p.G12D 12:25245350-25245350 8
281 COSM87857077 KRAS skin,hand,carcinoma,squamous cell carcinoma c.272A>G p.E91G 12:25227252-25227252 8
282 COSM87874222 KRAS skin,hand,carcinoma,squamous cell carcinoma c.151T>C p.C51R 12:25227373-25227373 8
283 COSM134730574 KRAS skin,hand,carcinoma,squamous cell carcinoma c.112-5573A>C p.? 12:25215484-25215484 8
284 COSM101958328 HRAS skin,hand,carcinoma,squamous cell carcinoma c.106A>G p.I36V 11:534217-534217 8
285 COSM101973771 HRAS skin,hand,carcinoma,squamous cell carcinoma c.76A>G p.N26D 11:534247-534247 8
286 COSM101962891 HRAS skin,hand,carcinoma,squamous cell carcinoma c.442A>G p.T148A 11:533461-533461 8
287 COSM101977802 HRAS skin,hand,carcinoma,squamous cell carcinoma c.442A>G p.T148A 11:533461-533461 8
288 COSM101958540 HRAS skin,hand,carcinoma,squamous cell carcinoma c.76A>G p.N26D 11:534247-534247 8
289 COSM91341791 HRAS skin,hand,carcinoma,squamous cell carcinoma c.442A>G p.T148A 11:533461-533461 8
290 COSM112998295 HRAS skin,hand,carcinoma,squamous cell carcinoma c.442A>G p.T148A 11:533461-533461 8
291 COSM112989135 HRAS skin,hand,carcinoma,squamous cell carcinoma c.38G>A p.G13D 11:534285-534285 8
292 COSM101973571 HRAS skin,hand,carcinoma,squamous cell carcinoma c.106A>G p.I36V 11:534217-534217 8
293 COSM91331440 HRAS skin,hand,carcinoma,squamous cell carcinoma c.38G>A p.G13D 11:534285-534285 8
294 COSM112994402 HRAS skin,hand,carcinoma,squamous cell carcinoma c.106A>G p.I36V 11:534217-534217 8
295 COSM101967518 HRAS skin,hand,carcinoma,squamous cell carcinoma c.38G>A p.G13D 11:534285-534285 8
296 COSM105728026 HRAS skin,hand,carcinoma,squamous cell carcinoma c.76A>G p.N26D 11:534247-534247 8
297 COSM105732522 HRAS skin,hand,carcinoma,squamous cell carcinoma c.442A>G p.T148A 11:533461-533461 8
298 COSM105727810 HRAS skin,hand,carcinoma,squamous cell carcinoma c.106A>G p.I36V 11:534217-534217 8
299 COSM112994585 HRAS skin,hand,carcinoma,squamous cell carcinoma c.76A>G p.N26D 11:534247-534247 8
300 COSM91337542 HRAS skin,hand,carcinoma,squamous cell carcinoma c.76A>G p.N26D 11:534247-534247 8
301 COSM101951923 HRAS skin,hand,carcinoma,squamous cell carcinoma c.38G>A p.G13D 11:534285-534285 8
302 COSM91337331 HRAS skin,hand,carcinoma,squamous cell carcinoma c.106A>G p.I36V 11:534217-534217 8
303 COSM105721696 HRAS skin,hand,carcinoma,squamous cell carcinoma c.38G>A p.G13D 11:534285-534285 8
304 COSM86265946 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.245T>G p.V82G 9:21971114-21971114 8
305 COSM120380922 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.92T>G p.V31G 9:21971114-21971114 8
306 COSM119229337 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.150+1G>A p.? 9:21974677-21974677 8
307 COSM139315959 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.287G>A p.R96H 9:21971115-21971115 8
308 COSM129325972 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.287G>A p.R96H 9:21971115-21971115 8
309 COSM86260944 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.244G>A p.V82M 9:21971115-21971115 8
310 COSM121130293 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.92T>G p.V31G 9:21971114-21971114 8
311 COSM120376529 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.-3-3469G>A p.? 9:21974677-21974677 8
312 COSM129325568 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.194-3469G>A p.? 9:21974677-21974677 8
313 COSM138524386 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.245T>G p.V82G 9:21971114-21971114 8
314 COSM129331061 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.288T>G p.R96= 9:21971114-21971114 8
315 COSM139315911 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.194-3469G>A p.? 9:21974677-21974677 8
316 COSM119229428 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.244G>A p.V82M 9:21971115-21971115 8
317 COSM121125060 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.-3-3469G>A p.? 9:21974677-21974677 8
318 COSM119233540 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.245T>G p.V82G 9:21971114-21971114 8
319 COSM138521179 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.150+1G>A p.? 9:21974677-21974677 8
320 COSM138521209 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.244G>A p.V82M 9:21971115-21971115 8
321 COSM139320352 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.288T>G p.R96= 9:21971114-21971114 8
322 COSM120376567 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.91G>A p.V31M 9:21971115-21971115 8
323 COSM121125125 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.91G>A p.V31M 9:21971115-21971115 8
324 COSM86260895 CDKN2A skin,hand,carcinoma,squamous cell carcinoma c.150+1G>A p.? 9:21974677-21974677 8
325 COSM110739922 PTCH1 skin,hand,carcinoma,NS c.1724C>T p.P575L 9:95469079-95469079 6
326 COSM103474500 PTCH1 skin,hand,carcinoma,NS c.1524G>A p.Q508= 9:95469024-95469024 6
327 COSM98559054 PTCH1 skin,hand,carcinoma,NS c.1919C>T p.P640L 9:95469079-95469079 6
328 COSM90854453 PTCH1 skin,hand,carcinoma,NS c.1922C>T p.P641L 9:95469079-95469079 6
329 COSM108484684 PTCH1 skin,hand,carcinoma,NS c.1469C>T p.P490L 9:95469079-95469079 6
330 COSM103477254 PTCH1 skin,hand,carcinoma,NS c.1469C>T p.P490L 9:95469079-95469079 6
331 COSM108537703 PTCH1 skin,hand,carcinoma,NS c.1779G>A p.Q593= 9:95469024-95469024 6
332 COSM110736499 PTCH1 skin,hand,carcinoma,NS c.665G>A p.G222D 9:95480472-95480472 6
333 COSM98554925 PTCH1 skin,hand,carcinoma,NS c.860G>A p.G287D 9:95480472-95480472 6
334 COSM90851307 PTCH1 skin,hand,carcinoma,NS c.863G>A p.G288D 9:95480472-95480472 6
335 COSM108482765 PTCH1 skin,hand,carcinoma,NS c.1524G>A p.Q508= 9:95469024-95469024 6
336 COSM103472933 PTCH1 skin,hand,carcinoma,NS c.410G>A p.G137D 9:95480472-95480472 6
337 COSM106851639 PTCH1 skin,hand,carcinoma,NS c.410G>A p.G137D 9:95480472-95480472 6
338 COSM106853096 PTCH1 skin,hand,carcinoma,NS c.1524G>A p.Q508= 9:95469024-95469024 6
339 COSM108481060 PTCH1 skin,hand,carcinoma,NS c.410G>A p.G137D 9:95480472-95480472 6
340 COSM108536265 PTCH1 skin,hand,carcinoma,NS c.665G>A p.G222D 9:95480472-95480472 6
341 COSM106855480 PTCH1 skin,hand,carcinoma,NS c.1469C>T p.P490L 9:95469079-95469079 6
342 COSM110737823 PTCH1 skin,hand,carcinoma,NS c.1779G>A p.Q593= 9:95469024-95469024 6
343 COSM90852565 PTCH1 skin,hand,carcinoma,NS c.1977G>A p.Q659= 9:95469024-95469024 6
344 COSM98556683 PTCH1 skin,hand,carcinoma,NS c.1974G>A p.Q658= 9:95469024-95469024 6
345 COSM108539662 PTCH1 skin,hand,carcinoma,NS c.1724C>T p.P575L 9:95469079-95469079 6

Expression for Ichthyosis, Hystrix-Like, with Deafness

Search GEO for disease gene expression data for Ichthyosis, Hystrix-Like, with Deafness.

Pathways for Ichthyosis, Hystrix-Like, with Deafness

GO Terms for Ichthyosis, Hystrix-Like, with Deafness

Sources for Ichthyosis, Hystrix-Like, with Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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