EBSB2
MCID: EPD068
MIFTS: 26

Epidermolysis Bullosa Simplex, Autosomal Recessive 2 (EBSB2)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

Name: Epidermolysis Bullosa Simplex, Autosomal Recessive 2 56 73 29 6 71
Ebsb2 56 73
Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 2 39
Epidermolysis Bullosa Simplex Due to Bp230 Deficiency 58
Dst-Related Epidermolysis Bullosa Simplex 58
Ebs-Ar Bp230 58

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa simplex due to bp230 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
two unrelated families have been reported (last curated september 2013)
blistering may worsen during the summer


HPO:

31
epidermolysis bullosa simplex, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 615425
MeSH 43 D016110
ICD10 via Orphanet 33 Q81.0
Orphanet 58 ORPHA412181
UMLS 71 C3809470

Summaries for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

UniProtKB/Swiss-Prot : 73 Epidermolysis bullosa simplex, autosomal recessive 2: A form of epidermolysis bullosa, a dermatologic disorder characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. EBSB2 is characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques.

MalaCards based summary : Epidermolysis Bullosa Simplex, Autosomal Recessive 2, is also known as ebsb2. An important gene associated with Epidermolysis Bullosa Simplex, Autosomal Recessive 2 is DST (Dystonin). Affiliated tissues include skin, and related phenotypes are nail dystrophy and atrophic scars

OMIM : 56 EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012). (615425)

Related Diseases for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Human phenotypes related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 occasional (7.5%) HP:0008404
2 atrophic scars 31 HP:0001075

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
atrophic scars
blistering, mild (occurs mainly on ankles and feet and in response to trauma)

Skin Nails Hair Skin Electron Microscopy:
hemidesmosomes show poorly formed inner plaques
lucent zone between keratin filaments and outer hemidesmosomal plaques

Skin Nails Hair Skin Histology:
decreased immunostaining for bpag1-e

Skin Nails Hair Nails:
nail dystrophy (1 patient)

Clinical features from OMIM:

615425

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Genetic Tests for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Genetic tests related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 29 DST

Anatomical Context for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

40
Skin

Publications for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Articles related to Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

(showing 2, show less)
# Title Authors PMID Year
1
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. 6 56
22113475 2012
2
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. 56 6
20164846 2010

Variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Autosomal Recessive 2:

6 (showing 499, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DST NM_015548.5(DST):c.2461C>T (p.Arg821Ter)SNV Pathogenic 541461 rs778397331 6:56496079-56496079 6:56631281-56631281
2 DST NM_015548.5(DST):c.3319-4996_3319-4993deldeletion Pathogenic 541432 rs748899221 6:56484275-56484278 6:56619477-56619480
3 DST NM_015548.5(DST):c.3318+3962C>TSNV Pathogenic 582018 rs577972555 6:56485366-56485366 6:56620568-56620568
4 DST NM_015548.5(DST):c.3318+4592C>TSNV Pathogenic 568439 rs770035646 6:56484736-56484736 6:56619938-56619938
5 DST NM_015548.5(DST):c.8989del (p.Val2997fs)deletion Pathogenic 665690 6:56400003-56400003 6:56535205-56535205
6 DST NM_015548.5(DST):c.3318+4680dupduplication Pathogenic 662480 6:56484642-56484643 6:56619844-56619845
7 DST NM_015548.5(DST):c.3040G>T (p.Glu1014Ter)SNV Pathogenic 665283 6:56492073-56492073 6:56627275-56627275
8 DST NM_015548.5(DST):c.775C>T (p.Arg259Ter)SNV Pathogenic 641493 6:56505045-56505045 6:56640247-56640247
9 DST NC_000006.12:g.(?_56458995)_(56642798_?)deldeletion Pathogenic 833186 6:56323793-56507596
10 DST NM_015548.5(DST):c.3319-4134C>TSNV Pathogenic 862868 6:56483416-56483416 6:56618618-56618618
11 DST NM_015548.5(DST):c.3319-4830C>TSNV Pathogenic 847629 6:56484112-56484112 6:56619314-56619314
12 DST NM_015548.5(DST):c.3318+4140_3318+4144deldeletion Pathogenic 861578 6:56485184-56485188 6:56620386-56620390
13 DST NM_015548.5(DST):c.2303del (p.Leu768fs)deletion Pathogenic 836793 6:56496730-56496730 6:56631932-56631932
14 DST NM_015548.5(DST):c.3318+4241A>TSNV Pathogenic 66013 rs398122943 6:56485087-56485087 6:56620289-56620289
15 DST NM_015548.5(DST):c.2670+1G>ASNV Likely pathogenic 660548 6:56495042-56495042 6:56630244-56630244
16 DST NM_015548.5(DST):c.1450-2A>TSNV Likely pathogenic 664361 6:56500514-56500514 6:56635716-56635716
17 DST NM_015548.5(DST):c.14975C>T (p.Ala4992Val)SNV Conflicting interpretations of pathogenicity 796218 6:56328406-56328406 6:56463608-56463608
18 DST NM_015548.5(DST):c.4970A>G (p.Lys1657Arg)SNV Conflicting interpretations of pathogenicity 795702 6:56457044-56457044 6:56592246-56592246
19 DST NM_015548.5(DST):c.3386A>T (p.Asn1129Ile)SNV Conflicting interpretations of pathogenicity 702839 6:56479215-56479215 6:56614417-56614417
20 DST NM_015548.5(DST):c.1094C>G (p.Ser365Cys)SNV Conflicting interpretations of pathogenicity 474506 rs138553142 6:56504402-56504402 6:56639604-56639604
21 DST NM_015548.5(DST):c.15094G>T (p.Ala5032Ser)SNV Conflicting interpretations of pathogenicity 489327 rs201138592 6:56327879-56327879 6:56463081-56463081
22 DST NM_015548.5(DST):c.5492T>C (p.Leu1831Ser)SNV Conflicting interpretations of pathogenicity 489326 rs201758531 6:56437738-56437738 6:56572940-56572940
23 DST NM_015548.5(DST):c.12569A>G (p.Asn4190Ser)SNV Conflicting interpretations of pathogenicity 522338 rs199628430 6:56357844-56357844 6:56493046-56493046
24 DST NM_015548.5(DST):c.22del (p.Tyr8fs)deletion Conflicting interpretations of pathogenicity 282605 rs775912185 6:56507565-56507565 6:56642767-56642767
25 DST NM_015548.5(DST):c.3319-2401A>CSNV Conflicting interpretations of pathogenicity 357556 rs149007397 6:56481683-56481683 6:56616885-56616885
26 DST NM_015548.5(DST):c.3318+4896G>ASNV Conflicting interpretations of pathogenicity 357574 rs147704763 6:56484432-56484432 6:56619634-56619634
27 DST NM_015548.5(DST):c.3318+4545C>TSNV Conflicting interpretations of pathogenicity 357581 rs45472691 6:56484783-56484783 6:56619985-56619985
28 DST NM_015548.5(DST):c.3027+7A>TSNV Conflicting interpretations of pathogenicity 357594 rs185349093 6:56492790-56492790 6:56627992-56627992
29 DST NM_015548.5(DST):c.2242A>G (p.Asn748Asp)SNV Conflicting interpretations of pathogenicity 357604 rs201419873 6:56496791-56496791 6:56631993-56631993
30 DST NM_015548.5(DST):c.1989T>C (p.Ile663=)SNV Conflicting interpretations of pathogenicity 357605 rs200453699 6:56498951-56498951 6:56634153-56634153
31 DST NM_015548.5(DST):c.1764G>A (p.Ala588=)SNV Conflicting interpretations of pathogenicity 357607 rs149789667 6:56499379-56499379 6:56634581-56634581
32 DST NM_015548.5(DST):c.909A>C (p.Ser303=)SNV Conflicting interpretations of pathogenicity 357613 rs139336917 6:56504826-56504826 6:56640028-56640028
33 DST NM_015548.5(DST):c.3319-1426G>ASNV Conflicting interpretations of pathogenicity 357546 rs368876285 6:56480708-56480708 6:56615910-56615910
34 DST NM_015548.5(DST):c.3319-1492G>ASNV Conflicting interpretations of pathogenicity 357548 rs145891100 6:56480774-56480774 6:56615976-56615976
35 DST NM_015548.5(DST):c.2769G>A (p.Thr923=)SNV Conflicting interpretations of pathogenicity 357598 rs200169945 6:56494143-56494143 6:56629345-56629345
36 DST NM_015548.5(DST):c.3319-1699A>GSNV Conflicting interpretations of pathogenicity 357549 rs150845451 6:56480981-56480981 6:56616183-56616183
37 DST NM_015548.5(DST):c.3319-2115A>GSNV Conflicting interpretations of pathogenicity 357553 rs112473525 6:56481397-56481397 6:56616599-56616599
38 DST NM_015548.5(DST):c.3319-3641T>CSNV Conflicting interpretations of pathogenicity 357561 rs141573097 6:56482923-56482923 6:56618125-56618125
39 DST NM_015548.5(DST):c.3319-3658C>TSNV Conflicting interpretations of pathogenicity 357562 rs146263203 6:56482940-56482940 6:56618142-56618142
40 DST NM_015548.5(DST):c.3319-4397A>CSNV Conflicting interpretations of pathogenicity 357566 rs45487998 6:56483679-56483679 6:56618881-56618881
41 DST NM_015548.5(DST):c.3318+3866C>TSNV Conflicting interpretations of pathogenicity 66012 rs201045495 6:56485462-56485462 6:56620664-56620664
42 DST NM_015548.5(DST):c.3318+4452C>ASNV Conflicting interpretations of pathogenicity 357583 rs142302277 6:56484876-56484876 6:56620078-56620078
43 DST NM_015548.5(DST):c.3318+4546G>ASNV Conflicting interpretations of pathogenicity 357580 rs377356403 6:56484782-56484782 6:56619984-56619984
44 DST NM_015548.5(DST):c.3295T>C (p.Leu1099=)SNV Conflicting interpretations of pathogenicity 357590 rs147406105 6:56489351-56489351 6:56624553-56624553
45 DST NM_015548.5(DST):c.3318+3832G>CSNV Conflicting interpretations of pathogenicity 357589 rs34767818 6:56485496-56485496 6:56620698-56620698
46 DST NM_015548.5(DST):c.25C>T (p.Arg9Cys)SNV Conflicting interpretations of pathogenicity 357622 rs75671065 6:56507562-56507562 6:56642764-56642764
47 DST NM_015548.5(DST):c.3220-6T>ASNV Conflicting interpretations of pathogenicity 357592 rs751953259 6:56489432-56489432 6:56624634-56624634
48 DST NM_015548.5(DST):c.739C>G (p.Pro247Ala)SNV Conflicting interpretations of pathogenicity 357616 rs151271595 6:56505081-56505081 6:56640283-56640283
49 DST NM_015548.5(DST):c.645A>T (p.Ser215=)SNV Conflicting interpretations of pathogenicity 357617 rs113432929 6:56505175-56505175 6:56640377-56640377
50 DST NM_015548.5(DST):c.514A>G (p.Met172Val)SNV Conflicting interpretations of pathogenicity 357618 rs142650835 6:56505306-56505306 6:56640508-56640508
51 DST NM_015548.5(DST):c.431G>A (p.Arg144His)SNV Conflicting interpretations of pathogenicity 357619 rs143101723 6:56505389-56505389 6:56640591-56640591
52 DST NM_015548.5(DST):c.288G>A (p.Val96=)SNV Conflicting interpretations of pathogenicity 357620 rs746002438 6:56506873-56506873 6:56642075-56642075
53 DST NM_015548.5(DST):c.3673-8C>TSNV Conflicting interpretations of pathogenicity 796001 6:56465027-56465027 6:56600229-56600229
54 DST NM_015548.5(DST):c.3319-4173G>ASNV Uncertain significance 861078 6:56483455-56483455 6:56618657-56618657
55 DST NM_015548.5(DST):c.3319-4264G>ASNV Uncertain significance 847117 6:56483546-56483546 6:56618748-56618748
56 DST NM_015548.5(DST):c.3319-4370C>ASNV Uncertain significance 839019 6:56483652-56483652 6:56618854-56618854
57 DST NM_015548.5(DST):c.3319-4660A>CSNV Uncertain significance 836734 6:56483942-56483942 6:56619144-56619144
58 DST NM_015548.5(DST):c.3319-4821G>ASNV Uncertain significance 854582 6:56484103-56484103 6:56619305-56619305
59 DST NM_015548.5(DST):c.3319-4824G>ASNV Uncertain significance 852669 6:56484106-56484106 6:56619308-56619308
60 DST NM_015548.5(DST):c.3319-1506C>TSNV Uncertain significance 862145 6:56480788-56480788 6:56615990-56615990
61 DST NM_015548.5(DST):c.3319-1776A>GSNV Uncertain significance 853949 6:56481058-56481058 6:56616260-56616260
62 DST NM_015548.5(DST):c.3319-1908A>GSNV Uncertain significance 837957 6:56481190-56481190 6:56616392-56616392
63 DST NM_015548.5(DST):c.3319-1943G>TSNV Uncertain significance 851746 6:56481225-56481225 6:56616427-56616427
64 DST NM_015548.5(DST):c.3319-2015T>GSNV Uncertain significance 864447 6:56481297-56481297 6:56616499-56616499
65 DST NM_015548.5(DST):c.3319-2167G>TSNV Uncertain significance 846796 6:56481449-56481449 6:56616651-56616651
66 DST NM_015548.5(DST):c.3319-2184A>GSNV Uncertain significance 840100 6:56481466-56481466 6:56616668-56616668
67 DST NM_015548.5(DST):c.3319-2190C>TSNV Uncertain significance 851700 6:56481472-56481472 6:56616674-56616674
68 DST NM_015548.5(DST):c.3319-2204G>ASNV Uncertain significance 854986 6:56481486-56481486 6:56616688-56616688
69 DST NM_015548.5(DST):c.3319-2235G>ASNV Uncertain significance 861485 6:56481517-56481517 6:56616719-56616719
70 DST NM_015548.5(DST):c.3319-2412G>CSNV Uncertain significance 842978 6:56481694-56481694 6:56616896-56616896
71 DST NM_015548.5(DST):c.3319-2497A>GSNV Uncertain significance 857723 6:56481779-56481779 6:56616981-56616981
72 DST NM_015548.5(DST):c.3319-2598C>GSNV Uncertain significance 861299 6:56481880-56481880 6:56617082-56617082
73 DST NM_015548.5(DST):c.3319-2799C>TSNV Uncertain significance 854689 6:56482081-56482081 6:56617283-56617283
74 DST NM_015548.5(DST):c.3319-3575deldeletion Uncertain significance 835815 6:56482857-56482857 6:56618059-56618059
75 DST NM_015548.5(DST):c.3319-3627C>TSNV Uncertain significance 852917 6:56482909-56482909 6:56618111-56618111
76 DST NM_015548.5(DST):c.3319-3639G>ASNV Uncertain significance 855074 6:56482921-56482921 6:56618123-56618123
77 DST NM_015548.5(DST):c.3319-3657G>ASNV Uncertain significance 847068 6:56482939-56482939 6:56618141-56618141
78 DST NM_015548.5(DST):c.3319-3788T>CSNV Uncertain significance 841866 6:56483070-56483070 6:56618272-56618272
79 DST NM_015548.5(DST):c.3319-3858A>GSNV Uncertain significance 844041 6:56483140-56483140 6:56618342-56618342
80 DST NM_015548.5(DST):c.3319-3995A>GSNV Uncertain significance 860371 6:56483277-56483277 6:56618479-56618479
81 DST NM_015548.5(DST):c.3319-4031G>ASNV Uncertain significance 846743 6:56483313-56483313 6:56618515-56618515
82 DST NM_015548.5(DST):c.3319-4042A>GSNV Uncertain significance 864168 6:56483324-56483324 6:56618526-56618526
83 DST NM_015548.5(DST):c.3319-4061A>GSNV Uncertain significance 862808 6:56483343-56483343 6:56618545-56618545
84 DST NM_015548.5(DST):c.3319-4085C>TSNV Uncertain significance 846214 6:56483367-56483367 6:56618569-56618569
85 DST NM_015548.5(DST):c.2264A>G (p.Asn755Ser)SNV Uncertain significance 853391 6:56496769-56496769 6:56631971-56631971
86 DST NM_015548.5(DST):c.2020A>G (p.Met674Val)SNV Uncertain significance 842252 6:56497826-56497826 6:56633028-56633028
87 DST NM_015548.5(DST):c.1913C>G (p.Thr638Ser)SNV Uncertain significance 859881 6:56499027-56499027 6:56634229-56634229
88 DST NM_015548.5(DST):c.1573A>G (p.Met525Val)SNV Uncertain significance 864131 6:56500389-56500389 6:56635591-56635591
89 DST NM_015548.5(DST):c.1219A>G (p.Asn407Asp)SNV Uncertain significance 842624 6:56504277-56504277 6:56639479-56639479
90 DST NM_015548.5(DST):c.1155A>C (p.Glu385Asp)SNV Uncertain significance 856605 6:56504341-56504341 6:56639543-56639543
91 DST NM_015548.5(DST):c.1059A>G (p.Arg353=)SNV Uncertain significance 842919 6:56504521-56504521 6:56639723-56639723
92 DST NM_015548.5(DST):c.1009A>G (p.Ile337Val)SNV Uncertain significance 842134 6:56504571-56504571 6:56639773-56639773
93 DST NM_015548.5(DST):c.876G>A (p.Met292Ile)SNV Uncertain significance 839641 6:56504944-56504944 6:56640146-56640146
94 DST NM_015548.5(DST):c.572G>A (p.Ser191Asn)SNV Uncertain significance 854064 6:56505248-56505248 6:56640450-56640450
95 DST NM_015548.5(DST):c.536G>A (p.Ser179Asn)SNV Uncertain significance 851185 6:56505284-56505284 6:56640486-56640486
96 DST NM_015548.5(DST):c.457G>A (p.Glu153Lys)SNV Uncertain significance 848873 6:56505363-56505363 6:56640565-56640565
97 DST NM_015548.5(DST):c.340C>G (p.Leu114Val)SNV Uncertain significance 843123 6:56506821-56506821 6:56642023-56642023
98 DST NM_015548.5(DST):c.211A>C (p.Ser71Arg)SNV Uncertain significance 840687 6:56507258-56507258 6:56642460-56642460
99 DST NM_015548.5(DST):c.142G>A (p.Gly48Ser)SNV Uncertain significance 855053 6:56507445-56507445 6:56642647-56642647
100 DST NM_015548.5(DST):c.104A>T (p.His35Leu)SNV Uncertain significance 855710 6:56507483-56507483 6:56642685-56642685
101 DST NM_015548.5(DST):c.82A>C (p.Asn28His)SNV Uncertain significance 836981 6:56507505-56507505 6:56642707-56642707
102 DST NM_015548.5(DST):c.26G>A (p.Arg9His)SNV Uncertain significance 863497 6:56507561-56507561 6:56642763-56642763
103 DST NM_015548.5(DST):c.12682-3A>CSNV Uncertain significance 864316 6:56357234-56357234 6:56492436-56492436
104 DST NM_015548.5(DST):c.2865-5C>GSNV Uncertain significance 860865 6:56492964-56492964 6:56628166-56628166
105 DST NM_015548.5(DST):c.1354-6T>CSNV Uncertain significance 856326 6:56501456-56501456 6:56636658-56636658
106 DST NM_015548.5(DST):c.3318+4079C>ASNV Uncertain significance 839367 6:56485249-56485249 6:56620451-56620451
107 DST NM_015548.5(DST):c.3318+3873A>GSNV Uncertain significance 850814 6:56485455-56485455 6:56620657-56620657
108 DST NM_015548.5(DST):c.3318+3869C>TSNV Uncertain significance 837940 6:56485459-56485459 6:56620661-56620661
109 DST NM_015548.5(DST):c.3070G>A (p.Glu1024Lys)SNV Uncertain significance 842459 6:56492043-56492043 6:56627245-56627245
110 DST NM_015548.5(DST):c.2966A>G (p.Lys989Arg)SNV Uncertain significance 864563 6:56492858-56492858 6:56628060-56628060
111 DST NM_015548.5(DST):c.2869C>T (p.Arg957Trp)SNV Uncertain significance 853757 6:56492955-56492955 6:56628157-56628157
112 DST NM_015548.5(DST):c.2780G>A (p.Arg927Gln)SNV Uncertain significance 859471 6:56494132-56494132 6:56629334-56629334
113 DST NM_015548.5(DST):c.2744C>A (p.Ala915Asp)SNV Uncertain significance 842241 6:56494168-56494168 6:56629370-56629370
114 DST NM_015548.5(DST):c.2594A>G (p.Tyr865Cys)SNV Uncertain significance 861501 6:56495119-56495119 6:56630321-56630321
115 DST NM_015548.5(DST):c.2539A>G (p.Thr847Ala)SNV Uncertain significance 847867 6:56495174-56495174 6:56630376-56630376
116 DST NM_015548.5(DST):c.2524A>G (p.Ile842Val)SNV Uncertain significance 863969 6:56496016-56496016 6:56631218-56631218
117 DST NM_015548.5(DST):c.3319-4844C>GSNV Uncertain significance 850303 6:56484126-56484126 6:56619328-56619328
118 DST NM_015548.5(DST):c.3318+5012T>GSNV Uncertain significance 854063 6:56484316-56484316 6:56619518-56619518
119 DST NM_015548.5(DST):c.3318+4963A>CSNV Uncertain significance 835286 6:56484365-56484365 6:56619567-56619567
120 DST NM_015548.5(DST):c.3318+4947A>GSNV Uncertain significance 858974 6:56484381-56484381 6:56619583-56619583
121 DST NM_015548.5(DST):c.3318+4799T>GSNV Uncertain significance 863287 6:56484529-56484529 6:56619731-56619731
122 DST NM_015548.5(DST):c.3318+4707G>ASNV Uncertain significance 839319 6:56484621-56484621 6:56619823-56619823
123 DST NM_015548.5(DST):c.3318+4451G>CSNV Uncertain significance 841231 6:56484877-56484877 6:56620079-56620079
124 DST NM_015548.5(DST):c.3318+4343A>GSNV Uncertain significance 842776 6:56484985-56484985 6:56620187-56620187
125 DST NM_015548.5(DST):c.3318+4332G>CSNV Uncertain significance 845156 6:56484996-56484996 6:56620198-56620198
126 DST NM_015548.5(DST):c.3318+4263T>GSNV Uncertain significance 835868 6:56485065-56485065 6:56620267-56620267
127 DST NM_015548.5(DST):c.3318+4250C>GSNV Uncertain significance 843739 6:56485078-56485078 6:56620280-56620280
128 DST NM_015548.5(DST):c.3318+3932A>GSNV Uncertain significance 357587 rs148413592 6:56485396-56485396 6:56620598-56620598
129 DST NM_015548.5(DST):c.1339C>T (p.Arg447Trp)SNV Uncertain significance 357610 rs138162782 6:56504071-56504071 6:56639273-56639273
130 DST NM_015548.5(DST):c.893G>A (p.Arg298His)SNV Uncertain significance 357614 rs41267671 6:56504842-56504842 6:56640044-56640044
131 DST NM_015548.5(DST):c.3318+4893A>GSNV Uncertain significance 357575 rs144279221 6:56484435-56484435 6:56619637-56619637
132 DST NM_015548.5(DST):c.3319-1403T>CSNV Uncertain significance 357545 rs754471163 6:56480685-56480685 6:56615887-56615887
133 DST NM_015548.5(DST):c.3319-1364A>GSNV Uncertain significance 357544 rs372196234 6:56480646-56480646 6:56615848-56615848
134 DST NM_015548.5(DST):c.2435C>T (p.Ala812Val)SNV Uncertain significance 357601 rs150656535 6:56496105-56496105 6:56631307-56631307
135 DST NM_015548.5(DST):c.1108C>T (p.Arg370Trp)SNV Uncertain significance 357611 rs775464446 6:56504388-56504388 6:56639590-56639590
136 DST NM_015548.5(DST):c.2779C>T (p.Arg927Trp)SNV Uncertain significance 357597 rs200316560 6:56494133-56494133 6:56629335-56629335
137 DST NM_015548.5(DST):c.3318+4211C>TSNV Uncertain significance 357585 rs371231287 6:56485117-56485117 6:56620319-56620319
138 DST NM_015548.5(DST):c.3319-3620C>GSNV Uncertain significance 357560 rs148856756 6:56482902-56482902 6:56618104-56618104
139 DST NM_015548.5(DST):c.3319-1428C>TSNV Uncertain significance 541469 rs1388446619 6:56480710-56480710 6:56615912-56615912
140 DST NM_015548.5(DST):c.3319-1829A>GSNV Uncertain significance 541464 rs755135829 6:56481111-56481111 6:56616313-56616313
141 DST NM_015548.5(DST):c.3319-2534A>GSNV Uncertain significance 541459 rs755587547 6:56481816-56481816 6:56617018-56617018
142 DST NM_015548.5(DST):c.3319-3708A>CSNV Uncertain significance 541444 rs1554503638 6:56482990-56482990 6:56618192-56618192
143 DST NM_015548.5(DST):c.3318+4619A>GSNV Uncertain significance 541447 rs376587897 6:56484709-56484709 6:56619911-56619911
144 DST NM_015548.5(DST):c.3318+4434A>GSNV Uncertain significance 541446 rs201459657 6:56484894-56484894 6:56620096-56620096
145 DST NM_015548.5(DST):c.3319-4157C>TSNV Uncertain significance 541436 rs1554504820 6:56483439-56483439 6:56618641-56618641
146 DST NM_015548.5(DST):c.3318+3974G>CSNV Uncertain significance 541435 rs1469921824 6:56485354-56485354 6:56620556-56620556
147 DST NM_015548.5(DST):c.3318+3870G>TSNV Uncertain significance 541467 rs528372361 6:56485458-56485458 6:56620660-56620660
148 DST NM_015548.5(DST):c.3241T>C (p.Tyr1081His)SNV Uncertain significance 541448 rs776786063 6:56489405-56489405 6:56624607-56624607
149 DST NM_015548.5(DST):c.1449+6T>CSNV Uncertain significance 541452 rs531313667 6:56501349-56501349 6:56636551-56636551
150 DST NM_015548.5(DST):c.1435A>G (p.Thr479Ala)SNV Uncertain significance 541434 rs148341409 6:56501369-56501369 6:56636571-56636571
151 DST NM_015548.5(DST):c.49A>G (p.Asn17Asp)SNV Uncertain significance 541445 rs1554555956 6:56507538-56507538 6:56642740-56642740
152 DST NM_015548.5(DST):c.3319-1043A>GSNV Uncertain significance 541450 rs759049357 6:56480325-56480325 6:56615527-56615527
153 DST NM_015548.5(DST):c.3319-2631G>ASNV Uncertain significance 541438 rs747676783 6:56481913-56481913 6:56617115-56617115
154 DST NM_015548.5(DST):c.736G>C (p.Glu246Gln)SNV Uncertain significance 474550 rs1554550101 6:56505084-56505084 6:56640286-56640286
155 DST NM_015548.5(DST):c.346C>T (p.Arg116Cys)SNV Uncertain significance 474520 rs377406538 6:56506815-56506815 6:56642017-56642017
156 DST NM_015548.5(DST):c.2357T>C (p.Leu786Pro)SNV Uncertain significance 474513 rs763647005 6:56496183-56496183 6:56631385-56631385
157 DST NM_015548.5(DST):c.1460A>T (p.Asp487Val)SNV Uncertain significance 474509 rs760961361 6:56500502-56500502 6:56635704-56635704
158 DST NM_015548.5(DST):c.3319-4119C>TSNV Uncertain significance 474533 rs757428058 6:56483401-56483401 6:56618603-56618603
159 DST NM_015548.5(DST):c.3318+4215A>GSNV Uncertain significance 474522 rs200744603 6:56485113-56485113 6:56620315-56620315
160 DST NM_015548.5(DST):c.3319-4386G>ASNV Uncertain significance 474529 rs904661472 6:56483668-56483668 6:56618870-56618870
161 DST NM_015548.5(DST):c.3202G>T (p.Asp1068Tyr)SNV Uncertain significance 474517 rs1554517569 6:56489972-56489972 6:56625174-56625174
162 DST NM_015548.5(DST):c.2612_2614AAG[2] (p.Glu873del)short repeat Uncertain significance 474514 rs770713340 6:56495093-56495095 6:56630295-56630297
163 DST NM_015548.5(DST):c.1943A>G (p.Lys648Arg)SNV Uncertain significance 474511 rs1291404920 6:56498997-56498997 6:56634199-56634199
164 DST NM_015548.5(DST):c.1439C>T (p.Ala480Val)SNV Uncertain significance 474508 rs760457066 6:56501365-56501365 6:56636567-56636567
165 DST NM_015548.5(DST):c.2509A>G (p.Met837Val)SNV Uncertain significance 425382 rs138508306 6:56496031-56496031 6:56631233-56631233
166 DST NM_015548.5(DST):c.3319-1359G>CSNV Uncertain significance 474551 rs200037204 6:56480641-56480641 6:56615843-56615843
167 DST NM_015548.5(DST):c.3319-2145C>GSNV Uncertain significance 474545 rs772001929 6:56481427-56481427 6:56616629-56616629
168 DST NM_015548.5(DST):c.3319-2664C>GSNV Uncertain significance 474538 rs148116284 6:56481946-56481946 6:56617148-56617148
169 DST NM_015548.5(DST):c.3319-3534A>GSNV Uncertain significance 474535 rs139725585 6:56482816-56482816 6:56618018-56618018
170 DST NM_015548.5(DST):c.3319-2060G>ASNV Uncertain significance 474547 rs748751197 6:56481342-56481342 6:56616544-56616544
171 DST NM_015548.5(DST):c.3319-2124A>GSNV Uncertain significance 474546 rs373961695 6:56481406-56481406 6:56616608-56616608
172 DST NM_015548.5(DST):c.3319-3505AG[3]short repeat Uncertain significance 474536 rs772013916 6:56482783-56482784 6:56617985-56617986
173 DST NM_015548.5(DST):c.3319-4296G>ASNV Uncertain significance 474530 rs1554505256 6:56483578-56483578 6:56618780-56618780
174 DST NM_015548.5(DST):c.2710C>T (p.His904Tyr)SNV Uncertain significance 474515 rs868279643 6:56494202-56494202 6:56629404-56629404
175 DST NM_015548.5(DST):c.3319-1319G>ASNV Uncertain significance 474553 rs1355463553 6:56480601-56480601 6:56615803-56615803
176 DST NM_015548.5(DST):c.3319-1821deldeletion Uncertain significance 474549 rs758701051 6:56481103-56481103 6:56616305-56616305
177 DST NM_015548.5(DST):c.3319-2376G>ASNV Uncertain significance 474544 rs750599278 6:56481658-56481658 6:56616860-56616860
178 DST NM_015548.5(DST):c.767T>C (p.Met256Thr)SNV Uncertain significance 474554 rs912256488 6:56505053-56505053 6:56640255-56640255
179 DST NM_015548.5(DST):c.3319-4287C>TSNV Uncertain significance 474531 rs775020057 6:56483569-56483569 6:56618771-56618771
180 DST NM_015548.5(DST):c.2009C>T (p.Ser670Leu)SNV Uncertain significance 578892 rs1563337534 6:56498931-56498931 6:56634133-56634133
181 DST NM_015548.5(DST):c.1865C>T (p.Ala622Val)SNV Uncertain significance 567030 rs150971786 6:56499278-56499278 6:56634480-56634480
182 DST NM_015548.5(DST):c.1843G>A (p.Val615Ile)SNV Uncertain significance 579275 rs199698356 6:56499300-56499300 6:56634502-56634502
183 DST NM_015548.5(DST):c.1073A>T (p.Tyr358Phe)SNV Uncertain significance 580294 rs780161827 6:56504507-56504507 6:56639709-56639709
184 DST NM_015548.5(DST):c.430C>T (p.Arg144Cys)SNV Uncertain significance 582630 rs543868808 6:56505390-56505390 6:56640592-56640592
185 DST NM_015548.5(DST):c.13145A>C (p.Lys4382Thr)SNV Uncertain significance 587427 rs1562306218 6:56351935-56351935 6:56487137-56487137
186 DST NM_015548.5(DST):c.15115G>A (p.Val5039Met)SNV Uncertain significance 648459 6:56327858-56327858 6:56463060-56463060
187 DST NM_015548.5(DST):c.15038G>A (p.Arg5013His)SNV Uncertain significance 664617 6:56327935-56327935 6:56463137-56463137
188 DST NM_015548.5(DST):c.13579G>T (p.Ala4527Ser)SNV Uncertain significance 663724 6:56346931-56346931 6:56482133-56482133
189 DST NM_015548.5(DST):c.13106A>G (p.Asn4369Ser)SNV Uncertain significance 650205 6:56351974-56351974 6:56487176-56487176
190 DST NM_015548.5(DST):c.12849A>T (p.Arg4283Ser)SNV Uncertain significance 642345 6:56357064-56357064 6:56492266-56492266
191 DST NM_015548.5(DST):c.12709C>T (p.Arg4237Cys)SNV Uncertain significance 665289 6:56357204-56357204 6:56492406-56492406
192 DST NM_015548.5(DST):c.12692A>G (p.Asn4231Ser)SNV Uncertain significance 643430 6:56357221-56357221 6:56492423-56492423
193 DST NM_015548.5(DST):c.12250G>C (p.Glu4084Gln)SNV Uncertain significance 646419 6:56362281-56362281 6:56497483-56497483
194 DST NM_015548.5(DST):c.11787G>C (p.Glu3929Asp)SNV Uncertain significance 656895 6:56366402-56366402 6:56501604-56501604
195 DST NM_015548.5(DST):c.10535T>G (p.Ile3512Ser)SNV Uncertain significance 658647 6:56380420-56380420 6:56515622-56515622
196 DST NM_015548.5(DST):c.3318+3954A>GSNV Uncertain significance 565447 rs1372393383 6:56485374-56485374 6:56620576-56620576
197 DST NM_015548.5(DST):c.3318+3884G>ASNV Uncertain significance 581403 rs757715794 6:56485444-56485444 6:56620646-56620646
198 DST NM_015548.5(DST):c.3040G>A (p.Glu1014Lys)SNV Uncertain significance 581479 rs375889300 6:56492073-56492073 6:56627275-56627275
199 DST NM_015548.5(DST):c.2353-3T>CSNV Uncertain significance 569143 rs1436091600 6:56496190-56496190 6:56631392-56631392
200 DST NM_015548.5(DST):c.1774C>A (p.His592Asn)SNV Uncertain significance 574217 rs376394935 6:56499369-56499369 6:56634571-56634571
201 DST NM_015548.5(DST):c.636C>T (p.Gly212=)SNV Uncertain significance 581731 rs1421257989 6:56505184-56505184 6:56640386-56640386
202 DST NM_015548.5(DST):c.340C>A (p.Leu114Ile)SNV Uncertain significance 581115 rs767375796 6:56506821-56506821 6:56642023-56642023
203 DST NM_015548.5(DST):c.3319-1323C>TSNV Uncertain significance 569499 rs200358436 6:56480605-56480605 6:56615807-56615807
204 DST NM_015548.5(DST):c.3319-1406G>ASNV Uncertain significance 568987 rs750795372 6:56480688-56480688 6:56615890-56615890
205 DST NM_015548.5(DST):c.3319-2077T>GSNV Uncertain significance 572628 rs775286129 6:56481359-56481359 6:56616561-56616561
206 DST NM_015548.5(DST):c.3319-3509C>TSNV Uncertain significance 567077 rs1563222681 6:56482791-56482791 6:56617993-56617993
207 DST NM_015548.5(DST):c.3319-4394T>CSNV Uncertain significance 573626 rs756979635 6:56483676-56483676 6:56618878-56618878
208 DST NM_015548.5(DST):c.3319-4476A>GSNV Uncertain significance 579394 rs767768995 6:56483758-56483758 6:56618960-56618960
209 DST NM_015548.5(DST):c.3319-4999A>CSNV Uncertain significance 583323 rs140535914 6:56484281-56484281 6:56619483-56619483
210 DST NM_015548.5(DST):c.3318+4833A>GSNV Uncertain significance 573607 rs747365882 6:56484495-56484495 6:56619697-56619697
211 DST NM_015548.5(DST):c.3178C>T (p.Arg1060Cys)SNV Uncertain significance 566073 rs371741067 6:56489996-56489996 6:56625198-56625198
212 DST NM_015548.5(DST):c.3116A>G (p.Tyr1039Cys)SNV Uncertain significance 582256 rs1423408429 6:56490058-56490058 6:56625260-56625260
213 DST NM_015548.5(DST):c.2240G>A (p.Arg747Gln)SNV Uncertain significance 582433 rs369710658 6:56496793-56496793 6:56631995-56631995
214 DST NM_015548.5(DST):c.1661G>A (p.Arg554Lys)SNV Uncertain significance 576686 rs377642785 6:56499666-56499666 6:56634868-56634868
215 DST NM_015548.5(DST):c.892C>T (p.Arg298Cys)SNV Uncertain significance 566137 rs144056466 6:56504843-56504843 6:56640045-56640045
216 DST NM_015548.5(DST):c.3319-1142A>GSNV Uncertain significance 582651 rs1318957119 6:56480424-56480424 6:56615626-56615626
217 DST NM_015548.5(DST):c.3319-2292A>GSNV Uncertain significance 578729 rs774919936 6:56481574-56481574 6:56616776-56616776
218 DST NM_015548.5(DST):c.3319-2694A>GSNV Uncertain significance 570538 rs373440035 6:56481976-56481976 6:56617178-56617178
219 DST NM_015548.5(DST):c.3319-2805G>ASNV Uncertain significance 574297 rs150618709 6:56482087-56482087 6:56617289-56617289
220 DST NM_015548.5(DST):c.3319-2855A>GSNV Uncertain significance 579542 rs1563219086 6:56482137-56482137 6:56617339-56617339
221 DST NM_015548.5(DST):c.3319-3639G>CSNV Uncertain significance 566950 rs369745616 6:56482921-56482921 6:56618123-56618123
222 DST NM_015548.5(DST):c.3319-4040C>ASNV Uncertain significance 582299 rs778893788 6:56483322-56483322 6:56618524-56618524
223 DST NM_015548.5(DST):c.3319-4146G>ASNV Uncertain significance 576770 rs1230491645 6:56483428-56483428 6:56618630-56618630
224 DST NM_015548.5(DST):c.3319-4463G>ASNV Uncertain significance 573232 rs952541821 6:56483745-56483745 6:56618947-56618947
225 DST NM_015548.5(DST):c.3318+4831G>CSNV Uncertain significance 578940 rs1340489213 6:56484497-56484497 6:56619699-56619699
226 DST NM_015548.5(DST):c.3318+4478T>ASNV Uncertain significance 541468 rs771206867 6:56484850-56484850 6:56620052-56620052
227 DST NM_015548.5(DST):c.3319-2433A>GSNV Uncertain significance 541463 rs1042484582 6:56481715-56481715 6:56616917-56616917
228 DST NM_015548.5(DST):c.168G>A (p.Arg56=)SNV Uncertain significance 541470 rs759216859 6:56507301-56507301 6:56642503-56642503
229 DST NM_015548.5(DST):c.3319-4455G>ASNV Uncertain significance 541453 rs201526616 6:56483737-56483737 6:56618939-56618939
230 DST NM_015548.5(DST):c.65G>A (p.Arg22Gln)SNV Uncertain significance 541457 rs749722200 6:56507522-56507522 6:56642724-56642724
231 DST NM_015548.5(DST):c.26G>T (p.Arg9Leu)SNV Uncertain significance 541442 rs201866780 6:56507561-56507561 6:56642763-56642763
232 DST NM_015548.5(DST):c.3319-1049T>CSNV Uncertain significance 541437 rs374732834 6:56480331-56480331 6:56615533-56615533
233 DST NM_015548.5(DST):c.261T>G (p.Ser87=)SNV Uncertain significance 541439 rs994026153 6:56507208-56507208 6:56642410-56642410
234 DST NM_015548.5(DST):c.3319-1674C>TSNV Uncertain significance 541460 rs369725310 6:56480956-56480956 6:56616158-56616158
235 DST NM_015548.5(DST):c.2658A>G (p.Ile886Met)SNV Uncertain significance 541466 rs546352116 6:56495055-56495055 6:56630257-56630257
236 DST NM_015548.5(DST):c.1057A>G (p.Arg353Gly)SNV Uncertain significance 541458 rs777218403 6:56504523-56504523 6:56639725-56639725
237 DST NM_015548.5(DST):c.964A>G (p.Ile322Val)SNV Uncertain significance 541465 rs763558851 6:56504771-56504771 6:56639973-56639973
238 DST NM_015548.5(DST):c.923T>G (p.Val308Gly)SNV Uncertain significance 541443 rs776991432 6:56504812-56504812 6:56640014-56640014
239 DST NM_015548.5(DST):c.3319-1509C>TSNV Uncertain significance 567726 rs746141989 6:56480791-56480791 6:56615993-56615993
240 DST NM_015548.5(DST):c.3319-2061C>TSNV Uncertain significance 570509 rs770480438 6:56481343-56481343 6:56616545-56616545
241 DST NM_015548.5(DST):c.3319-2072C>GSNV Uncertain significance 581410 rs1168153800 6:56481354-56481354 6:56616556-56616556
242 DST NM_015548.5(DST):c.3319-2268C>GSNV Uncertain significance 581325 rs747963109 6:56481550-56481550 6:56616752-56616752
243 DST NM_015548.5(DST):c.3319-2568A>GSNV Uncertain significance 576576 rs374067079 6:56481850-56481850 6:56617052-56617052
244 DST NM_015548.5(DST):c.3319-2571T>GSNV Uncertain significance 575042 rs1563216810 6:56481853-56481853 6:56617055-56617055
245 DST NM_015548.5(DST):c.3319-3695A>GSNV Uncertain significance 575258 rs150351052 6:56482977-56482977 6:56618179-56618179
246 DST NM_015548.5(DST):c.3319-4674C>TSNV Uncertain significance 581868 rs138869481 6:56483956-56483956 6:56619158-56619158
247 DST NM_015548.5(DST):c.3319-4879G>CSNV Uncertain significance 577809 rs760185197 6:56484161-56484161 6:56619363-56619363
248 DST NM_015548.5(DST):c.3282T>G (p.Phe1094Leu)SNV Uncertain significance 579130 rs1025461861 6:56489364-56489364 6:56624566-56624566
249 DST NM_015548.5(DST):c.2338A>T (p.Ile780Phe)SNV Uncertain significance 571236 rs749922320 6:56496695-56496695 6:56631897-56631897
250 DST NM_015548.5(DST):c.3319-1233A>GSNV Uncertain significance 576814 rs767923847 6:56480515-56480515 6:56615717-56615717
251 DST NM_015548.5(DST):c.3319-1487G>ASNV Uncertain significance 580623 rs148062292 6:56480769-56480769 6:56615971-56615971
252 DST NM_015548.5(DST):c.3319-1700C>GSNV Uncertain significance 571179 rs867112939 6:56480982-56480982 6:56616184-56616184
253 DST NM_015548.5(DST):c.3319-1758C>GSNV Uncertain significance 568196 rs775274894 6:56481040-56481040 6:56616242-56616242
254 DST NM_015548.5(DST):c.3319-2229dupduplication Uncertain significance 567980 rs747370186 6:56481506-56481507 6:56616708-56616709
255 DST NM_015548.5(DST):c.3319-2460G>ASNV Uncertain significance 566938 rs766809207 6:56481742-56481742 6:56616944-56616944
256 DST NM_015548.5(DST):c.3319-2511G>ASNV Uncertain significance 571941 rs752133375 6:56481793-56481793 6:56616995-56616995
257 DST NM_015548.5(DST):c.3318+4950G>TSNV Uncertain significance 581612 rs777768790 6:56484378-56484378 6:56619580-56619580
258 DST NM_015548.5(DST):c.2352+8C>GSNV Uncertain significance 652179 6:56496673-56496673 6:56631875-56631875
259 DST NM_015548.5(DST):c.2291T>C (p.Ile764Thr)SNV Uncertain significance 541449 rs1554529510 6:56496742-56496742 6:56631944-56631944
260 DST NM_015548.5(DST):c.3319-4088A>GSNV Uncertain significance 541454 rs1554504595 6:56483370-56483370 6:56618572-56618572
261 DST NM_015548.5(DST):c.3319-4127A>GSNV Uncertain significance 541441 rs139868117 6:56483409-56483409 6:56618611-56618611
262 DST NM_015548.5(DST):c.3319-4436A>GSNV Uncertain significance 541431 rs1215446722 6:56483718-56483718 6:56618920-56618920
263 DST NM_015548.5(DST):c.3318+4175A>GSNV Uncertain significance 541440 rs914360656 6:56485153-56485153 6:56620355-56620355
264 DST NM_015548.5(DST):c.689C>T (p.Thr230Ile)SNV Uncertain significance 652520 6:56505131-56505131 6:56640333-56640333
265 DST NM_015548.5(DST):c.658C>T (p.Arg220Cys)SNV Uncertain significance 643670 6:56505162-56505162 6:56640364-56640364
266 DST NM_015548.5(DST):c.484C>T (p.Arg162Cys)SNV Uncertain significance 657527 6:56505336-56505336 6:56640538-56640538
267 DST NM_015548.5(DST):c.143G>A (p.Gly48Asp)SNV Uncertain significance 639219 6:56507444-56507444 6:56642646-56642646
268 DST NM_015548.5(DST):c.23A>G (p.Tyr8Cys)SNV Uncertain significance 641885 6:56507564-56507564 6:56642766-56642766
269 DST NM_015548.5(DST):c.14701-4A>GSNV Uncertain significance 649196 6:56330997-56330997 6:56466199-56466199
270 DST NC_000006.11:g.(?_56323793)_(56507596_?)dupduplication Uncertain significance 653511 6:56323793-56507596 6:56458995-56642798
271 DST NM_015548.5(DST):c.2773A>G (p.Lys925Glu)SNV Uncertain significance 639498 6:56494139-56494139 6:56629341-56629341
272 DST NM_015548.5(DST):c.2690A>G (p.Asp897Gly)SNV Uncertain significance 646760 6:56494222-56494222 6:56629424-56629424
273 DST NM_015548.5(DST):c.2584G>A (p.Val862Ile)SNV Uncertain significance 664209 6:56495129-56495129 6:56630331-56630331
274 DST NM_015548.5(DST):c.2368C>G (p.Leu790Val)SNV Uncertain significance 654542 6:56496172-56496172 6:56631374-56631374
275 DST NM_015548.5(DST):c.2293C>G (p.Arg765Gly)SNV Uncertain significance 646309 6:56496740-56496740 6:56631942-56631942
276 DST NM_015548.5(DST):c.2275C>T (p.Arg759Trp)SNV Uncertain significance 639415 6:56496758-56496758 6:56631960-56631960
277 DST NM_015548.5(DST):c.2231C>T (p.Ser744Phe)SNV Uncertain significance 643174 6:56496802-56496802 6:56632004-56632004
278 DST NM_015548.5(DST):c.2225A>G (p.Tyr742Cys)SNV Uncertain significance 642338 6:56496808-56496808 6:56632010-56632010
279 DST NM_015548.5(DST):c.2051G>A (p.Ser684Asn)SNV Uncertain significance 648220 6:56497795-56497795 6:56632997-56632997
280 DST NM_015548.5(DST):c.1751A>C (p.Glu584Ala)SNV Uncertain significance 651328 6:56499392-56499392 6:56634594-56634594
281 DST NM_015548.5(DST):c.1569A>T (p.Glu523Asp)SNV Uncertain significance 664202 6:56500393-56500393 6:56635595-56635595
282 DST NM_015548.5(DST):c.1484T>C (p.Leu495Ser)SNV Uncertain significance 647261 6:56500478-56500478 6:56635680-56635680
283 DST NM_015548.5(DST):c.1144G>A (p.Ala382Thr)SNV Uncertain significance 664149 6:56504352-56504352 6:56639554-56639554
284 DST NM_015548.5(DST):c.785T>G (p.Leu262Arg)SNV Uncertain significance 657922 6:56505035-56505035 6:56640237-56640237
285 DST NM_015548.5(DST):c.3318+4463A>GSNV Uncertain significance 652745 6:56484865-56484865 6:56620067-56620067
286 DST NM_015548.5(DST):c.3318+4351A>TSNV Uncertain significance 658361 6:56484977-56484977 6:56620179-56620179
287 DST NM_015548.5(DST):c.3318+4161T>CSNV Uncertain significance 650492 6:56485167-56485167 6:56620369-56620369
288 DST NM_015548.5(DST):c.3318+4143G>ASNV Uncertain significance 655934 6:56485185-56485185 6:56620387-56620387
289 DST NM_015548.5(DST):c.3318+4142C>TSNV Uncertain significance 662102 6:56485186-56485186 6:56620388-56620388
290 DST NM_015548.5(DST):c.3318+4124G>ASNV Uncertain significance 651784 6:56485204-56485204 6:56620406-56620406
291 DST NM_015548.5(DST):c.3318+4085C>TSNV Uncertain significance 654723 6:56485243-56485243 6:56620445-56620445
292 DST NM_015548.5(DST):c.3318+3938G>ASNV Uncertain significance 645266 6:56485390-56485390 6:56620592-56620592
293 DST NM_015548.5(DST):c.3318+3887C>GSNV Uncertain significance 652497 6:56485441-56485441 6:56620643-56620643
294 DST NM_015548.5(DST):c.3318+3870G>CSNV Uncertain significance 663792 6:56485458-56485458 6:56620660-56620660
295 DST NM_015548.5(DST):c.3227A>T (p.Asp1076Val)SNV Uncertain significance 661108 6:56489419-56489419 6:56624621-56624621
296 DST NM_015548.5(DST):c.3204T>A (p.Asp1068Glu)SNV Uncertain significance 663614 6:56489970-56489970 6:56625172-56625172
297 DST NM_015548.5(DST):c.3200C>A (p.Ala1067Glu)SNV Uncertain significance 641962 6:56489974-56489974 6:56625176-56625176
298 DST NM_015548.5(DST):c.2782G>A (p.Asp928Asn)SNV Uncertain significance 541451 rs141875862 6:56494130-56494130 6:56629332-56629332
299 DST NM_015548.5(DST):c.3319-1096_3319-1092delinsGTAindel Uncertain significance 541456 rs1554497505 6:56480374-56480378 6:56615576-56615580
300 DST NM_015548.5(DST):c.3319-1941T>ASNV Uncertain significance 541433 rs906479742 6:56481223-56481223 6:56616425-56616425
301 DST NM_015548.5(DST):c.3319-3527T>CSNV Uncertain significance 541455 rs146392434 6:56482809-56482809 6:56618011-56618011
302 DST NM_015548.5(DST):c.8693T>G (p.Val2898Gly)SNV Uncertain significance 662351 6:56417028-56417028 6:56552230-56552230
303 DST NM_015548.5(DST):c.6570A>G (p.Ile2190Met)SNV Uncertain significance 660062 6:56425093-56425093 6:56560295-56560295
304 DST NM_015548.5(DST):c.6541C>T (p.Pro2181Ser)SNV Uncertain significance 665008 6:56425122-56425122 6:56560324-56560324
305 DST NM_015548.5(DST):c.6195T>C (p.Asn2065=)SNV Uncertain significance 644124 6:56426940-56426940 6:56562142-56562142
306 DST NM_015548.5(DST):c.5723T>C (p.Leu1908Pro)SNV Uncertain significance 641533 6:56437027-56437027 6:56572229-56572229
307 DST NM_015548.5(DST):c.5519A>G (p.His1840Arg)SNV Uncertain significance 660085 6:56437711-56437711 6:56572913-56572913
308 DST NM_015548.5(DST):c.5415G>T (p.Met1805Ile)SNV Uncertain significance 661094 6:56437815-56437815 6:56573017-56573017
309 DST NM_015548.5(DST):c.5404A>G (p.Ile1802Val)SNV Uncertain significance 663290 6:56437826-56437826 6:56573028-56573028
310 DST NM_015548.5(DST):c.5393G>A (p.Arg1798His)SNV Uncertain significance 653203 6:56437837-56437837 6:56573039-56573039
311 DST NM_015548.5(DST):c.5374G>A (p.Glu1792Lys)SNV Uncertain significance 646418 6:56437856-56437856 6:56573058-56573058
312 DST NM_015548.5(DST):c.4811G>A (p.Arg1604His)SNV Uncertain significance 654866 6:56458507-56458507 6:56593709-56593709
313 DST NM_015548.5(DST):c.4679A>G (p.Asp1560Gly)SNV Uncertain significance 643355 6:56458639-56458639 6:56593841-56593841
314 DST NM_015548.5(DST):c.4222A>G (p.Ile1408Val)SNV Uncertain significance 663675 6:56462642-56462642 6:56597844-56597844
315 DST NM_015548.5(DST):c.4174A>T (p.Ile1392Phe)SNV Uncertain significance 663031 6:56462690-56462690 6:56597892-56597892
316 DST NM_015548.5(DST):c.3812A>C (p.Gln1271Pro)SNV Uncertain significance 650732 6:56464880-56464880 6:56600082-56600082
317 DST NM_015548.5(DST):c.3418G>T (p.Ala1140Ser)SNV Uncertain significance 646788 6:56479183-56479183 6:56614385-56614385
318 DST NM_015548.5(DST):c.3319-1037C>TSNV Uncertain significance 658213 6:56480319-56480319 6:56615521-56615521
319 DST NM_015548.5(DST):c.3319-1191T>ASNV Uncertain significance 656608 6:56480473-56480473 6:56615675-56615675
320 DST NM_015548.5(DST):c.3319-1322G>ASNV Uncertain significance 642880 6:56480604-56480604 6:56615806-56615806
321 DST NM_015548.5(DST):c.3319-1534A>GSNV Uncertain significance 645763 6:56480816-56480816 6:56616018-56616018
322 DST NM_015548.5(DST):c.3319-1565G>ASNV Uncertain significance 657240 6:56480847-56480847 6:56616049-56616049
323 DST NM_015548.5(DST):c.3319-1583G>ASNV Uncertain significance 664254 6:56480865-56480865 6:56616067-56616067
324 DST NM_015548.5(DST):c.3319-1633G>TSNV Uncertain significance 642348 6:56480915-56480915 6:56616117-56616117
325 DST NM_015548.5(DST):c.3319-1799C>ASNV Uncertain significance 646579 6:56481081-56481081 6:56616283-56616283
326 DST NM_015548.5(DST):c.3319-1947A>GSNV Uncertain significance 653187 6:56481229-56481229 6:56616431-56616431
327 DST NM_015548.5(DST):c.3319-1982A>GSNV Uncertain significance 665068 6:56481264-56481264 6:56616466-56616466
328 DST NM_015548.5(DST):c.3319-2078A>GSNV Uncertain significance 648267 6:56481360-56481360 6:56616562-56616562
329 DST NM_015548.5(DST):c.3319-2100C>TSNV Uncertain significance 652254 6:56481382-56481382 6:56616584-56616584
330 DST NM_015548.5(DST):c.3319-2228G>ASNV Uncertain significance 644212 6:56481510-56481510 6:56616712-56616712
331 DST NM_015548.5(DST):c.3319-2262G>TSNV Uncertain significance 651524 6:56481544-56481544 6:56616746-56616746
332 DST NM_015548.5(DST):c.3319-2365T>GSNV Uncertain significance 649759 6:56481647-56481647 6:56616849-56616849
333 DST NM_015548.5(DST):c.3319-2515G>ASNV Uncertain significance 650279 6:56481797-56481797 6:56616999-56616999
334 DST NM_015548.5(DST):c.3319-2519C>TSNV Uncertain significance 660521 6:56481801-56481801 6:56617003-56617003
335 DST NM_015548.5(DST):c.3319-2532A>TSNV Uncertain significance 652498 6:56481814-56481814 6:56617016-56617016
336 DST NM_015548.5(DST):c.3319-2564C>TSNV Uncertain significance 665142 6:56481846-56481846 6:56617048-56617048
337 DST NM_015548.5(DST):c.3319-2631G>TSNV Uncertain significance 662221 6:56481913-56481913 6:56617115-56617115
338 DST NM_015548.5(DST):c.3319-2685C>TSNV Uncertain significance 660580 6:56481967-56481967 6:56617169-56617169
339 DST NM_015548.5(DST):c.3319-2822G>TSNV Uncertain significance 640830 6:56482104-56482104 6:56617306-56617306
340 DST NM_015548.5(DST):c.3319-2858C>TSNV Uncertain significance 651748 6:56482140-56482140 6:56617342-56617342
341 DST NM_015548.5(DST):c.3319-2912A>GSNV Uncertain significance 646097 6:56482194-56482194 6:56617396-56617396
342 DST NM_015548.5(DST):c.3319-3577C>ASNV Uncertain significance 638844 6:56482859-56482859 6:56618061-56618061
343 DST NM_015548.5(DST):c.3319-3596T>CSNV Uncertain significance 653152 6:56482878-56482878 6:56618080-56618080
344 DST NM_015548.5(DST):c.3319-3638A>GSNV Uncertain significance 658854 6:56482920-56482920 6:56618122-56618122
345 DST NM_015548.5(DST):c.3319-3936A>GSNV Uncertain significance 652885 6:56483218-56483218 6:56618420-56618420
346 DST NM_015548.5(DST):c.3319-3951A>GSNV Uncertain significance 652742 6:56483233-56483233 6:56618435-56618435
347 DST NM_015548.5(DST):c.3319-3953A>CSNV Uncertain significance 643378 6:56483235-56483235 6:56618437-56618437
348 DST NM_015548.5(DST):c.3319-4077T>CSNV Uncertain significance 654918 6:56483359-56483359 6:56618561-56618561
349 DST NM_015548.5(DST):c.3319-4079A>GSNV Uncertain significance 639025 6:56483361-56483361 6:56618563-56618563
350 DST NM_015548.5(DST):c.3319-4208C>ASNV Uncertain significance 641598 6:56483490-56483490 6:56618692-56618692
351 DST NM_015548.5(DST):c.3319-4286G>ASNV Uncertain significance 649842 6:56483568-56483568 6:56618770-56618770
352 DST NM_015548.5(DST):c.3319-4371A>TSNV Uncertain significance 660766 6:56483653-56483653 6:56618855-56618855
353 DST NM_015548.5(DST):c.3319-4487T>CSNV Uncertain significance 665194 6:56483769-56483769 6:56618971-56618971
354 DST NM_015548.5(DST):c.3319-4553A>GSNV Uncertain significance 658838 6:56483835-56483835 6:56619037-56619037
355 DST NM_015548.5(DST):c.3319-4580A>GSNV Uncertain significance 655813 6:56483862-56483862 6:56619064-56619064
356 DST NM_015548.5(DST):c.3319-4754A>CSNV Uncertain significance 661445 6:56484036-56484036 6:56619238-56619238
357 DST NM_015548.5(DST):c.3319-4959A>GSNV Uncertain significance 656496 6:56484241-56484241 6:56619443-56619443
358 DST NM_015548.5(DST):c.3319-5015G>ASNV Uncertain significance 649444 6:56484297-56484297 6:56619499-56619499
359 DST NM_015548.5(DST):c.3318+4858A>TSNV Uncertain significance 642257 6:56484470-56484470 6:56619672-56619672
360 DST NM_015548.5(DST):c.3319-3946A>GSNV Likely benign 541462 rs138838195 6:56483228-56483228 6:56618430-56618430
361 DST NM_015548.5(DST):c.2719G>A (p.Glu907Lys)SNV Likely benign 541476 rs143924906 6:56494193-56494193 6:56629395-56629395
362 DST NM_015548.5(DST):c.1146G>A (p.Ala382=)SNV Likely benign 541471 rs376863860 6:56504350-56504350 6:56639552-56639552
363 DST NM_015548.5(DST):c.183A>G (p.Gln61=)SNV Likely benign 541480 rs370678197 6:56507286-56507286 6:56642488-56642488
364 DST NM_015548.5(DST):c.2353-10T>CSNV Likely benign 541482 rs376752835 6:56496197-56496197 6:56631399-56631399
365 DST NM_015548.5(DST):c.1671C>T (p.Asp557=)SNV Likely benign 541473 rs145723100 6:56499656-56499656 6:56634858-56634858
366 DST NM_015548.5(DST):c.546A>G (p.Ser182=)SNV Likely benign 702109 6:56505274-56505274 6:56640476-56640476
367 DST NM_015548.5(DST):c.3319-1144A>CSNV Likely benign 707721 6:56480426-56480426 6:56615628-56615628
368 DST NM_015548.5(DST):c.3319-1798T>GSNV Likely benign 704572 6:56481080-56481080 6:56616282-56616282
369 DST NM_015548.5(DST):c.3319-1930C>GSNV Likely benign 704498 6:56481212-56481212 6:56616414-56616414
370 DST NM_015548.5(DST):c.3319-3629A>GSNV Likely benign 706030 6:56482911-56482911 6:56618113-56618113
371 DST NM_015548.5(DST):c.3319-3658C>ASNV Likely benign 704946 6:56482940-56482940 6:56618142-56618142
372 DST NM_015548.5(DST):c.3319-4103A>CSNV Likely benign 703966 6:56483385-56483385 6:56618587-56618587
373 DST NM_015548.5(DST):c.3319-4405G>ASNV Likely benign 706090 6:56483687-56483687 6:56618889-56618889
374 DST NM_015548.5(DST):c.3319-4459C>TSNV Likely benign 703633 6:56483741-56483741 6:56618943-56618943
375 DST NM_015548.5(DST):c.3318+4786G>ASNV Likely benign 704068 6:56484542-56484542 6:56619744-56619744
376 DST NM_015548.5(DST):c.3318+4556C>ASNV Likely benign 703770 6:56484772-56484772 6:56619974-56619974
377 DST NM_015548.5(DST):c.3318+4087C>TSNV Likely benign 704116 6:56485241-56485241 6:56620443-56620443
378 DST NM_015548.5(DST):c.2375G>A (p.Arg792Gln)SNV Likely benign 705076 6:56496165-56496165 6:56631367-56631367
379 DST NM_015548.5(DST):c.1440G>A (p.Ala480=)SNV Likely benign 703452 6:56501364-56501364 6:56636566-56636566
380 DST NM_015548.5(DST):c.978A>G (p.Glu326=)SNV Likely benign 704464 6:56504757-56504757 6:56639959-56639959
381 DST NM_015548.5(DST):c.129T>C (p.Ser43=)SNV Likely benign 706671 6:56507458-56507458 6:56642660-56642660
382 DST NM_015548.5(DST):c.2088T>C (p.Asp696=)SNV Likely benign 771963 6:56497758-56497758 6:56632960-56632960
383 DST NM_015548.5(DST):c.435C>T (p.Asp145=)SNV Likely benign 770840 6:56505385-56505385 6:56640587-56640587
384 DST NM_015548.5(DST):c.3319-4246T>CSNV Likely benign 792042 6:56483528-56483528 6:56618730-56618730
385 DST NM_015548.5(DST):c.2011A>C (p.Ile671Leu)SNV Likely benign 779545 6:56497835-56497835 6:56633037-56633037
386 DST NM_015548.5(DST):c.642A>T (p.Ser214=)SNV Likely benign 784854 6:56505178-56505178 6:56640380-56640380
387 DST NM_015548.5(DST):c.3069C>T (p.Asp1023=)SNV Likely benign 709725 6:56492044-56492044 6:56627246-56627246
388 DST NM_015548.5(DST):c.2862C>T (p.Asn954=)SNV Likely benign 715301 6:56494050-56494050 6:56629252-56629252
389 DST NM_015548.5(DST):c.1245T>C (p.His415=)SNV Likely benign 715303 6:56504251-56504251 6:56639453-56639453
390 DST NM_015548.5(DST):c.3319-1480C>TSNV Likely benign 757846 6:56480762-56480762 6:56615964-56615964
391 DST NM_015548.5(DST):c.3319-5011T>CSNV Likely benign 758187 6:56484293-56484293 6:56619495-56619495
392 DST NM_015548.5(DST):c.3319-2317T>GSNV Likely benign 793689 6:56481599-56481599 6:56616801-56616801
393 DST NM_015548.5(DST):c.1962T>C (p.His654=)SNV Likely benign 797039 6:56498978-56498978 6:56634180-56634180
394 DST NM_015548.5(DST):c.10564C>T (p.Arg3522Trp)SNV Likely benign 798345 6:56380391-56380391 6:56515593-56515593
395 DST NM_015548.5(DST):c.14589C>T (p.Ala4863=)SNV Likely benign 796494 6:56334944-56334944 6:56470146-56470146
396 DST NM_015548.5(DST):c.879+9A>GSNV Likely benign 705168 6:56504932-56504932 6:56640134-56640134
397 DST NM_015548.5(DST):c.3319-4198A>GSNV Likely benign 767440 6:56483480-56483480 6:56618682-56618682
398 DST NM_015548.5(DST):c.3129A>G (p.Thr1043=)SNV Likely benign 772737 6:56490045-56490045 6:56625247-56625247
399 DST NM_015548.5(DST):c.8178C>G (p.Thr2726=)SNV Likely benign 796372 6:56417543-56417543 6:56552745-56552745
400 DST NM_015548.5(DST):c.7557A>G (p.Thr2519=)SNV Likely benign 798354 6:56418164-56418164 6:56553366-56553366
401 DST NM_015548.5(DST):c.15114C>T (p.Pro5038=)SNV Likely benign 796232 6:56327859-56327859 6:56463061-56463061
402 DST NM_015548.5(DST):c.13534-23TG[8]short repeat Likely benign 796766 6:56346985-56346986 6:56482187-56482188
403 DST NM_015548.5(DST):c.7617A>G (p.Lys2539=)SNV Likely benign 799570 6:56418104-56418104 6:56553306-56553306
404 DST NM_015548.5(DST):c.8626A>T (p.Ser2876Cys)SNV Likely benign 795733 6:56417095-56417095 6:56552297-56552297
405 DST NM_015548.5(DST):c.5019A>G (p.Gln1673=)SNV Likely benign 796220 6:56456995-56456995 6:56592197-56592197
406 DST NM_015548.5(DST):c.4290T>G (p.Thr1430=)SNV Likely benign 798409 6:56462574-56462574 6:56597776-56597776
407 DST NM_015548.5(DST):c.3319-2152C>TSNV Likely benign 541479 rs34628660 6:56481434-56481434 6:56616636-56616636
408 DST NM_015548.5(DST):c.880-8G>ASNV Likely benign 541477 rs372435739 6:56504863-56504863 6:56640065-56640065
409 DST NM_015548.5(DST):c.3319-1564G>TSNV Likely benign 541472 rs1554498664 6:56480846-56480846 6:56616048-56616048
410 DST NM_015548.5(DST):c.3319-4492G>ASNV Likely benign 541478 rs143594621 6:56483774-56483774 6:56618976-56618976
411 DST NM_015548.5(DST):c.3318+4435G>ASNV Likely benign 541481 rs1324705147 6:56484893-56484893 6:56620095-56620095
412 DST NM_015548.5(DST):c.3318+4939G>ASNV Likely benign 541485 rs144396052 6:56484389-56484389 6:56619591-56619591
413 DST NM_015548.5(DST):c.84T>C (p.Asn28=)SNV Likely benign 474556 rs137865390 6:56507503-56507503 6:56642705-56642705
414 DST NM_015548.5(DST):c.3319-2455A>CSNV Likely benign 474542 rs767540132 6:56481737-56481737 6:56616939-56616939
415 DST NM_015548.5(DST):c.1815G>A (p.Glu605=)SNV Likely benign 474510 rs1276209420 6:56499328-56499328 6:56634530-56634530
416 DST NM_015548.5(DST):c.3165A>G (p.Lys1055=)SNV Likely benign 474516 rs746892771 6:56490009-56490009 6:56625211-56625211
417 DST NM_015548.5(DST):c.3319-2582C>TSNV Likely benign 474540 rs115983672 6:56481864-56481864 6:56617066-56617066
418 DST NM_015548.5(DST):c.3319-2610G>ASNV Likely benign 474539 rs75275319 6:56481892-56481892 6:56617094-56617094
419 DST NM_015548.5(DST):c.3319-2416T>CSNV Likely benign 474543 rs1554500971 6:56481698-56481698 6:56616900-56616900
420 DST NM_015548.5(DST):c.3319-1848G>ASNV Likely benign 474548 rs140192373 6:56481130-56481130 6:56616332-56616332
421 DST NM_015548.5(DST):c.3319-4778A>CSNV Likely benign 474527 rs138185589 6:56484060-56484060 6:56619262-56619262
422 DST NM_015548.5(DST):c.1019C>T (p.Thr340Ile)SNV Likely benign 474505 rs141523606 6:56504561-56504561 6:56639763-56639763
423 DST NM_015548.5(DST):c.3319-4589C>TSNV Likely benign 474528 rs150229184 6:56483871-56483871 6:56619073-56619073
424 DST NM_015548.5(DST):c.3318+4759G>ASNV Likely benign 474525 rs750495787 6:56484569-56484569 6:56619771-56619771
425 DST NM_015548.5(DST):c.3240A>G (p.Arg1080=)SNV Likely benign 474519 rs762100685 6:56489406-56489406 6:56624608-56624608
426 DST NM_015548.5(DST):c.471G>C (p.Val157=)SNV Likely benign 474526 rs1554550933 6:56505349-56505349 6:56640551-56640551
427 DST NM_015548.5(DST):c.3319-1354T>CSNV Likely benign 474552 rs202229586 6:56480636-56480636 6:56615838-56615838
428 DST NM_015548.5(DST):c.3319-2863C>TSNV Likely benign 474537 rs370483824 6:56482145-56482145 6:56617347-56617347
429 DST NM_015548.5(DST):c.1249-4G>CSNV Likely benign 474507 rs370134977 6:56504165-56504165 6:56639367-56639367
430 DST NM_015548.5(DST):c.3319-3578A>GSNV Likely benign 541489 rs201140563 6:56482860-56482860 6:56618062-56618062
431 DST NM_015548.5(DST):c.3039C>T (p.Ser1013=)SNV Likely benign 541488 rs138607224 6:56492074-56492074 6:56627276-56627276
432 DST NM_015548.5(DST):c.3319-3742A>GSNV Likely benign 541475 rs138015691 6:56483024-56483024 6:56618226-56618226
433 DST NM_015548.5(DST):c.3319-2632C>GSNV Likely benign 541487 rs377110563 6:56481914-56481914 6:56617116-56617116
434 DST NM_015548.5(DST):c.3319-3770A>GSNV Likely benign 381713 rs12209266 6:56483052-56483052 6:56618254-56618254
435 DST NM_015548.5(DST):c.6571+10G>ASNV Likely benign 796490 6:56425082-56425082 6:56560284-56560284
436 DST NM_015548.5(DST):c.10830C>T (p.Ala3610=)SNV Likely benign 795835 6:56376076-56376076 6:56511278-56511278
437 DST NM_015548.5(DST):c.1122A>T (p.Thr374=)SNV Benign/Likely benign 390190 rs200851963 6:56504374-56504374 6:56639576-56639576
438 DST NM_015548.5(DST):c.2841T>C (p.Asn947=)SNV Benign/Likely benign 357596 rs112640831 6:56494071-56494071 6:56629273-56629273
439 DST NM_015548.5(DST):c.2589A>G (p.Lys863=)SNV Benign/Likely benign 357599 rs35715547 6:56495124-56495124 6:56630326-56630326
440 DST NM_015548.5(DST):c.2451C>T (p.Val817=)SNV Benign/Likely benign 357600 rs78600049 6:56496089-56496089 6:56631291-56631291
441 DST NM_015548.5(DST):c.1881C>T (p.Asn627=)SNV Benign/Likely benign 357606 rs79026338 6:56499262-56499262 6:56634464-56634464
442 DST NM_015548.5(DST):c.3318+4305A>GSNV Benign/Likely benign 357584 rs35497571 6:56485023-56485023 6:56620225-56620225
443 DST NM_015548.5(DST):c.2979T>G (p.Asn993Lys)SNV Benign/Likely benign 357595 rs35014998 6:56492845-56492845 6:56628047-56628047
444 DST NM_015548.5(DST):c.3220-3C>ASNV Benign/Likely benign 357591 rs115890942 6:56489429-56489429 6:56624631-56624631
445 DST NM_015548.5(DST):c.3319-2350A>GSNV Benign/Likely benign 357555 rs115542549 6:56481632-56481632 6:56616834-56616834
446 DST NM_015548.5(DST):c.3318+3842C>TSNV Benign/Likely benign 357588 rs6909714 6:56485486-56485486 6:56620688-56620688
447 DST NM_015548.5(DST):c.3319-1218A>GSNV Benign/Likely benign 357543 rs150191284 6:56480500-56480500 6:56615702-56615702
448 DST NM_015548.5(DST):c.3319-4065C>GSNV Benign/Likely benign 357563 rs79943354 6:56483347-56483347 6:56618549-56618549
449 DST NM_015548.5(DST):c.3319-4570A>CSNV Benign/Likely benign 357569 rs2230863 6:56483852-56483852 6:56619054-56619054
450 DST NM_015548.5(DST):c.3319-4495T>CSNV Benign/Likely benign 357568 rs2230864 6:56483777-56483777 6:56618979-56618979
451 DST NM_015548.5(DST):c.3319-4876C>TSNV Benign/Likely benign 357572 rs191617697 6:56484158-56484158 6:56619360-56619360
452 DST NM_015548.5(DST):c.3318+4785C>TSNV Benign/Likely benign 357576 rs78701610 6:56484543-56484543 6:56619745-56619745
453 DST NM_015548.5(DST):c.10236T>C (p.Asp3412=)SNV Benign 795676 6:56391183-56391183 6:56526385-56526385
454 DST NM_015548.5(DST):c.8706G>A (p.Thr2902=)SNV Benign 796222 6:56417015-56417015 6:56552217-56552217
455 DST NM_015548.5(DST):c.7715G>A (p.Cys2572Tyr)SNV Benign 795666 6:56418006-56418006 6:56553208-56553208
456 DST NM_015548.5(DST):c.6592A>C (p.Asn2198His)SNV Benign 798645 6:56422296-56422296 6:56557498-56557498
457 DST NM_015548.5(DST):c.13107C>T (p.Asn4369=)SNV Benign 795681 6:56351973-56351973 6:56487175-56487175
458 DST NM_015548.5(DST):c.13002A>G (p.Gln4334=)SNV Benign 798478 6:56354294-56354294 6:56489496-56489496
459 DST NM_015548.5(DST):c.11779A>G (p.Thr3927Ala)SNV Benign 795841 6:56366410-56366410 6:56501612-56501612
460 DST NM_015548.5(DST):c.6444G>A (p.Ser2148=)SNV Benign 798341 6:56425219-56425219 6:56560421-56560421
461 DST NM_015548.5(DST):c.6305A>G (p.Lys2102Arg)SNV Benign 795663 6:56426242-56426242 6:56561444-56561444
462 DST NM_015548.5(DST):c.6301T>C (p.Ser2101Pro)SNV Benign 796217 6:56426246-56426246 6:56561448-56561448
463 DST NM_015548.5(DST):c.1946G>A (p.Ser649Asn)SNV Benign 474512 rs139350480 6:56498994-56498994 6:56634196-56634196
464 DST NM_015548.5(DST):c.13128G>A (p.Leu4376=)SNV Benign 522337 rs187652380 6:56351952-56351952 6:56487154-56487154
465 DST NM_015548.5(DST):c.3234G>A (p.Arg1078=)SNV Benign 474518 rs41271870 6:56489412-56489412 6:56624614-56624614
466 DST NM_015548.5(DST):c.3319-2485G>ASNV Benign 474541 rs539830067 6:56481767-56481767 6:56616969-56616969
467 DST NM_015548.5(DST):c.3319-4122T>CSNV Benign 474532 rs79225819 6:56483404-56483404 6:56618606-56618606
468 DST NM_015548.5(DST):c.3319-3544C>TSNV Benign 474534 rs138576576 6:56482826-56482826 6:56618028-56618028
469 DST NM_015548.5(DST):c.3318+4220T>CSNV Benign 474523 rs2230861 6:56485108-56485108 6:56620310-56620310
470 DST NM_015548.5(DST):c.880-6C>TSNV Benign 541486 rs143259402 6:56504861-56504861 6:56640063-56640063
471 DST NM_015548.5(DST):c.3319-1778A>GSNV Benign 541484 rs115473902 6:56481060-56481060 6:56616262-56616262
472 DST NM_015548.5(DST):c.7992G>A (p.Arg2664=)SNV Benign 795665 6:56417729-56417729 6:56552931-56552931
473 DST NM_015548.5(DST):c.7322A>G (p.Gln2441Arg)SNV Benign 795683 6:56418399-56418399 6:56553601-56553601
474 DST NM_015548.5(DST):c.7090T>C (p.Leu2364=)SNV Benign 796206 6:56420320-56420320 6:56555522-56555522
475 DST NM_015548.5(DST):c.4749A>G (p.Lys1583=)SNV Benign 796212 6:56458569-56458569 6:56593771-56593771
476 DST NM_015548.5(DST):c.12477C>T (p.Asn4159=)SNV Benign 796761 6:56358856-56358856 6:56494058-56494058
477 DST NM_015548.5(DST):c.10528T>A (p.Cys3510Ser)SNV Benign 795675 6:56380427-56380427 6:56515629-56515629
478 DST NM_015548.5(DST):c.14436T>C (p.Asp4812=)SNV Benign 795682 6:56335920-56335920 6:56471122-56471122
479 DST NM_015548.5(DST):c.6443C>T (p.Ser2148Leu)SNV Benign 795686 6:56425220-56425220 6:56560422-56560422
480 DST NM_015548.5(DST):c.5951C>A (p.Pro1984His)SNV Benign 795661 6:56434712-56434712 6:56569914-56569914
481 DST NM_015548.5(DST):c.4767C>T (p.Asp1589=)SNV Benign 795839 6:56458551-56458551 6:56593753-56593753
482 DST NM_015548.5(DST):c.4482T>G (p.Thr1494=)SNV Benign 795667 6:56458836-56458836 6:56594038-56594038
483 DST NM_015548.5(DST):c.2106C>A (p.Val702=)SNV Benign 772421 6:56497740-56497740 6:56632942-56632942
484 DST NM_015548.5(DST):c.11475C>A (p.Val3825=)SNV Benign 795662 6:56371483-56371483 6:56506685-56506685
485 DST NM_015548.5(DST):c.10054-10A>GSNV Benign 795677 6:56391375-56391375 6:56526577-56526577
486 DST NM_015548.5(DST):c.7717T>C (p.Leu2573=)SNV Benign 795673 6:56418004-56418004 6:56553206-56553206
487 DST NM_015548.5(DST):c.7701G>A (p.Glu2567=)SNV Benign 795671 6:56418020-56418020 6:56553222-56553222
488 DST NM_015548.5(DST):c.6282G>A (p.Ala2094=)SNV Benign 795695 6:56426265-56426265 6:56561467-56561467
489 DST NM_015548.5(DST):c.9239+10A>GSNV Benign 795679 6:56397132-56397132 6:56532334-56532334
490 DST NM_015548.5(DST):c.9161C>T (p.Ala3054Val)SNV Benign 795678 6:56397220-56397220 6:56532422-56532422
491 DST NM_015548.5(DST):c.3379G>T (p.Val1127Leu)SNV Benign 702888 6:56479222-56479222 6:56614424-56614424
492 DST NM_015548.5(DST):c.3318+3811G>ASNV Benign 702793 6:56485517-56485517 6:56620719-56620719
493 DST NM_015548.5(DST):c.14991A>C (p.Pro4997=)SNV Benign 798344 6:56328390-56328390 6:56463592-56463592
494 DST NM_015548.5(DST):c.14955T>C (p.Thr4985=)SNV Benign 795748 6:56328426-56328426 6:56463628-56463628
495 DST NM_015548.5(DST):c.14250A>G (p.Arg4750=)SNV Benign 796227 6:56336896-56336896 6:56472098-56472098
496 DST NM_015548.5(DST):c.13554G>A (p.Val4518=)SNV Benign 795697 6:56346956-56346956 6:56482158-56482158
497 DST NM_015548.5(DST):c.12682-10T>CSNV Benign 795680 6:56357241-56357241 6:56492443-56492443
498 DST NM_015548.5(DST):c.3318+4507G>ASNV Benign 706032 6:56484821-56484821 6:56620023-56620023
499 DST NM_015548.5(DST):c.3319-3997A>GSNV Benign 706031 6:56483279-56483279 6:56618481-56618481

Expression for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex, Autosomal Recessive 2.

Pathways for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

GO Terms for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

Sources for Epidermolysis Bullosa Simplex, Autosomal Recessive 2

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