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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AFG3L2, APCDD1, ATP8B1, BCL2, CTDP1, DCC, DSC2, DSC3, DSG1, DSG2, DSG4, ELP2, FECH, LAMA1, LAMA3, LMAN1, LOXHD1, MOCOS, MYO5B, NDUFV2, NEDD4L, NPC1, NPC1, PIEZO2, PIGN, RAX, RBBP8, SLC14A1, TCF4, TNFRSF11A,
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
APCDD1 Hypotrichosis 1, 605389 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
DCC Colorectal cancer, somatic, 114500 (3)
Esophageal carcinoma, somatic, 133239 (3)
Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DSC2 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)
Arrhythmogenic right ventricular dysplasia 11, 610476 (3)
DSC3 ?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG2 Arrhythmogenic right ventricular dysplasia 10, 610193 (3)
Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4 Hypotrichosis 6, 607903 (3)
ELP2 Mental retardation, autosomal recessive 58, 617270 (3)
FECH Protoporphyria, erythropoietic, 1, 177000 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NEDD4L Periventricular nodular heterotopia 7, 617201 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RAX Microphthalmia, isolated 3, 611038 (3)
RBBP8 Jawad syndrome, 251255 (3)
Pancreatic carcinoma, somatic (3)
Seckel syndrome 2, 606744 (3)
SLC14A1 [Blood group, Kidd], 111000 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
TNFRSF11A {Paget disease of bone 2, early-onset}, 602080 (3)
Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)

Genes at Clinical Genomics Database

AFG3L2, APCDD1, ATP8B1, CTDP1, DCC, DSC2, DSC3, DSG1, DSG2, DSG4, FECH, LAMA1, LAMA3, LMAN1, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RAX, RBBP8, SLC14A1, TCF4, TNFRSF11A,
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
APCDD1 Hypotrichosis 1
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
DCC Mirror movements 1
DSC2 Arrhythmogenic right ventricular dysplasia, familial, 11
Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair
DSC3 Hypotrichosis and recurrent skin vesicles
DSG1 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG2 Cardiomyopathy, dilated, 1BB
Arrhythmogenic right ventricular dysplasia, familial, 10
DSG4 Hypotrichosis 6
FECH Protoporphyria, erythropoietic
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
LMAN1 Combined factor V and VIII deficiency
LOXHD1 Deafness, autosomal recessive 77
MYO5B Diarrhea 2, with microvillus atrophy
NDUFV2 Mitochondrial complex I deficiency
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
RAX Microphthalmia, isolated 3
RBBP8 Seckel syndrome 2
Jawad syndrome
SLC14A1 Blood group, Kidd
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
TNFRSF11A Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7

Genes at HGMD

Summary

Number of Variants: 462
Number of Genes: 42

Export to: CSV

ADCYAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs8192597
dbSNP Clinvar
907675 0.0 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.34802 None None None None None None ADCYAP1|0.147854671|43.32%
View exome_all 18 rs2231187
dbSNP Clinvar
909561 0.0 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.25727 None None None None None None ADCYAP1|0.147854671|43.32%

AFG3L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs11553521
dbSNP Clinvar
12348285 0.0 T C PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%
View exome_all 18 rs11080572
dbSNP Clinvar
12351342 0.0 C T PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.62320 0.62320 0.31386 None None None None None None AFG3L2|0.258891122|30.83%

APCDD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs3748413
dbSNP Clinvar
10471773 0.0 C G PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.10403 0.10400 0.09819 None None None None None None APCDD1|0.086159804|53.92%
View exome_all 18 rs3185480
dbSNP Clinvar
10487918 0.0 C T PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.40994 0.40990 0.35276 None None None None None None APCDD1|0.086159804|53.92%
View exome_all 18 rs116143459
dbSNP Clinvar
10487784 0.0 C A PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.00879 0.00879 0.00730 None None None None None None APCDD1|0.086159804|53.92%
View exome_all 18 rs3748415
dbSNP Clinvar
10471732 0.0 G A PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.09665 0.09665 0.08781 0.09 0.01 None None None None None None APCDD1|0.086159804|53.92%

AQP4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs1839318
dbSNP Clinvar
24441215 0.0 C T PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.04113 0.04113 0.02237 None None None None None None AQP4|0.743437489|7.3%
View exome_all 18 rs72557968
dbSNP Clinvar
24442227 0.0 C T PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.03155 0.03155 0.01538 None None None None None None AQP4|0.743437489|7.3%
View exome_all 18 rs35248760
dbSNP Clinvar
24442392 0.0 C A PASS 0/1 197 SYNONYMOUS_CODING LOW None 0.04413 0.04413 0.09011 None None None None None None AQP4|0.743437489|7.3%

ATP8B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs319438
dbSNP Clinvar
55364852 0.0 A G PASS 1/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%
View exome_all 18 rs222581
dbSNP Clinvar
55317676 0.0 C T PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00123 1.00 0.00 None None None None None None ATP8B1|0.161108429|41.4%
View exome_all 18 rs319443
dbSNP Clinvar
55362532 0.0 T G PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.01031 None None None None None None ATP8B1|0.161108429|41.4%

BCL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs1801018
dbSNP Clinvar
60985879 0.0 T C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.24321 0.24320 0.31045 None None None None None None BCL2|0.938364507|2.54%

CD226

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs72481819
dbSNP Clinvar
67534632 0.0 C T PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.02196 0.02196 0.04905 None None None None None None CD226|0.|85.1%
View exome_all 18 rs763361
dbSNP Clinvar
67531642 0.0 T C PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.46945 0.46940 0.45210 0.40 0.01 None None None None None None CD226|0.|85.1%

CIDEA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs11545881
dbSNP Clinvar
12274104 0.0 G T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.36422 0.36420 0.30594 0.29 0.15 None None None None None None CIDEA|0.01791692|75.33%

CNDP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs12960862
dbSNP Clinvar
72234635 0.0 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.45447 0.45450 0.43449 None None None None None None CNDP1|0.024865105|71.86%
View exome_all 18 rs4263028
dbSNP Clinvar
72228124 0.0 A G PASS 1/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.98163 0.98160 0.01745 1.00 0.00 None None None None None None CNDP1|0.024865105|71.86%
View exome_all 18 rs10663835,rs60017744
dbSNP Clinvar
72223591 0.0 G GTGC PASS 0/1 54 CODON_INSERTION MODERATE None None None None None None None CNDP1|0.024865105|71.86%
View exome_all 18 rs11151964
dbSNP Clinvar
72201918 0.0 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.11382 0.11380 0.12917 0.44 0.00 None None None None None None CNDP1|0.024865105|71.86%

CTDP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs17855830
dbSNP Clinvar
77440128 0.0 T G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.65535 0.65540 0.91 0.00 None None None None None None CTDP1|0.016641517|76.13%
View exome_all 18 rs599554
dbSNP Clinvar
77473086 0.0 G A PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.20887 0.20890 0.21032 None None None None None None CTDP1|0.016641517|76.13%
View exome_all 18 rs2126082
dbSNP Clinvar
77474921 0.0 G A PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.18510 0.18510 0.16566 None None None None None None CTDP1|0.016641517|76.13%
View exome_all 18 rs626169
dbSNP Clinvar
77513721 0.0 T C PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.89517 0.89520 0.10357 None None None None None None CTDP1|0.016641517|76.13%

DCC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs45447193
dbSNP Clinvar
50683727 0.0 T A PASS 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01577 0.01577 0.02583 None None None None None None DCC|0.980899041|1.44%
View exome_all 18 rs9951523
dbSNP Clinvar
49867224 0.0 T C PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.99581 0.99580 0.01084 0.53 0.00 None None None None None None DCC|0.980899041|1.44%

DSC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs12954874
dbSNP Clinvar
28673565 0.0 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.12360 0.12360 0.10710 None None None None None None DSC2|0.027947877|70.44%

DSC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs276937
dbSNP Clinvar
28611061 0.0 A T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.43490 0.43490 0.32516 0.13 0.11 None None None None None None DSC3|0.270295411|29.87%
View exome_all 18 rs1313586
dbSNP Clinvar
28586964 0.0 A G PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.59425 0.59420 0.46948 None None None None None None DSC3|0.270295411|29.87%
View exome_all 18 rs276938
dbSNP Clinvar
28610988 0.0 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.43550 0.43550 0.32739 0.55 0.00 None None None None None None DSC3|0.270295411|29.87%

DSG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs3752095
dbSNP Clinvar
28934681 0.0 A T PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.11542 0.11540 0.13686 0.00 1.00 None None None None None None DSG1|0.124796378|46.66%

DSG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs1791235
dbSNP Clinvar
29126670 0.0 T C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.54293 0.54290 0.47309 None None None None None None DSG2|0.049641303|62.78%
View exome_all 18 rs2230233
dbSNP Clinvar
29104698 0.0 C T PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.52656 0.52660 0.49412 None None None None None None DSG2|0.049641303|62.78%

DSG4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs36101975
dbSNP Clinvar
28956904 0.0 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.12161 0.12160 0.14124 None None None None None None DSG4|0.119999576|47.44%
View exome_all 18 rs16959856
dbSNP Clinvar
28968371 0.0 G A PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.72065 0.72060 0.30568 None None None None None None DSG4|0.119999576|47.44%
View exome_all 18 rs9956865
dbSNP Clinvar
28968959 0.0 C T PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.80491 0.80490 0.22124 None None None None None None DSG4|0.119999576|47.44%

ELP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs8299
dbSNP Clinvar
33750046 0.0 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.37906 None None None None None None ELP2|0.183972604|38.49%
View exome_all 18 rs1785932
dbSNP Clinvar
33719434 0.0 C T PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.24521 0.24520 None None None None None None ELP2|0.183972604|38.49%
View exome_all 18 rs1785934
dbSNP Clinvar
33718326 0.0 A C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.32049 0.32050 0.36960 0.20 0.05 None None None None None None ELP2|0.183972604|38.49%
View exome_all 18 rs1785928
dbSNP Clinvar
33725931 0.0 G A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.32169 0.32170 0.37044 1.00 0.00 None None None None None None ELP2|0.183972604|38.49%

FECH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs536765
dbSNP Clinvar
55226383 0.0 G C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.74960 0.74960 0.23635 None None None None None None FECH|0.29146554|28.28%
View exome_all 18 rs536560
dbSNP Clinvar
55221648 0.0 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.75759 0.75760 0.23535 None None None None None None FECH|0.29146554|28.28%

KATNAL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs7233515
dbSNP Clinvar
44585955 0.0 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.43530 0.43530 0.38190 0.40 0.01 None None None None None None KATNAL2|0.157340058|41.98%

LAMA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs12970643
dbSNP Clinvar
6999963 0.0 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.08047 0.08047 0.11326 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs62081531
dbSNP Clinvar
6986259 0.0 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.13778 0.13780 0.19076 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs12969598
dbSNP Clinvar
7011338 0.0 C T PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.01757 0.01757 0.03764 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs619106
dbSNP Clinvar
7011413 0.0 G A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.36462 0.36460 0.41149 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs9946794
dbSNP Clinvar
7012123 0.0 A G PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.42013 0.42010 0.48524 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs625106
dbSNP Clinvar
6999628 0.0 T C PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.46625 0.46630 0.47786 0.31 0.11 0.78364 D None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs12961939
dbSNP Clinvar
6997818 0.0 A C PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.14956 0.14960 0.22828 0.07 0.26 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs62081533
dbSNP Clinvar
6993673 0.0 T C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.11342 0.11340 0.17077 0.30 0.00 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs607230
dbSNP Clinvar
6980523 0.0 T C PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.33995 0.36 0.00 2.00 0.01 0.13867 T None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs539713
dbSNP Clinvar
7017322 0.0 A G PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.36122 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs11664063
dbSNP Clinvar
6985270 0.0 C T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.13558 0.13560 0.18653 0.11 0.01 None None None None None None LAMA1|0.056830169|60.73%
View exome_all 18 rs617206
dbSNP Clinvar
6985631 0.0 C T PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.55212 0.55210 0.45110 None None None None None None LAMA1|0.056830169|60.73%

LAMA3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs9962023
dbSNP Clinvar
21413869 0.0 T C PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.62440 0.62440 0.35046 None None None None None None LAMA3|0.045252413|64.13%
View exome_all 18 rs1154226
dbSNP Clinvar
21481233 0.0 C G PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.16833 0.16830 0.19883 None None None None None None LAMA3|0.045252413|64.13%
View exome_all 18 rs1131521
dbSNP Clinvar
21513768 0.0 C T PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.14836 0.14840 0.14586 None None None None None None LAMA3|0.045252413|64.13%
View exome_all 18 rs1154233
dbSNP Clinvar
21511089 0.0 A G PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None LAMA3|0.045252413|64.13%
View exome_all 18 rs1154232
dbSNP Clinvar
21511034 0.0 C A PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.15675 0.15670 0.15262 0.01 None None None None None None LAMA3|0.045252413|64.13%
View exome_all 18 rs867449
dbSNP Clinvar
21437931 0.0 G C PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.34365 0.34370 0.48272 None None None None None None LAMA3|0.045252413|64.13%
View exome_all 18 rs12965685
dbSNP Clinvar
21441717 0.0 C T PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.34066 0.34070 0.49685 None None None None None None LAMA3|0.045252413|64.13%

LMAN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs1127220
dbSNP Clinvar
57022754 0.0 T C PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.17272 0.17270 0.24297 None None None None None None LMAN1|0.202539299|36.45%

LOXHD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs74316327
dbSNP Clinvar
44057673 0.0 C T PASS 0/1 373 NON_SYNONYMOUS_CODING MODERATE None 0.02716 0.02716 0.06001 0.03 0.07 None None None None None None LOXHD1|0.227324787|33.62%
View exome_all 18 rs1377016
dbSNP Clinvar
44063598 0.0 G A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.37899 0.37900 0.50 0.02 None None None None None None LOXHD1|0.227324787|33.62%
View exome_all 18 rs12606417
dbSNP Clinvar
44104437 0.0 T C PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.06250 0.06250 0.08804 0.09 0.03 None None None None None None LOXHD1|0.227324787|33.62%
View exome_all 18 rs1893566
dbSNP Clinvar
44126909 0.0 T C PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.69469 0.69470 0.22843 0.44 0.00 None None None None None None LOXHD1|0.227324787|33.62%
View exome_all 18 rs2086005
dbSNP Clinvar
44149474 0.0 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.06170 0.06170 0.11805 None None None None None None LOXHD1|0.227324787|33.62%

MBD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs34500680
dbSNP Clinvar
47793973 0.0 G A PASS 0/1 74 None None None 0.02077 0.02077 None None None None None None MBD1|0.061704646|59.4%
View exome_all 18 rs140690
dbSNP Clinvar
47801800 0.0 G A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.20347 0.20350 0.30857 None None None None None None MBD1|0.061704646|59.4%
View exome_all 18 rs550750190
dbSNP Clinvar
47800167 0.0 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.11 0.06 None None None None None None MBD1|0.061704646|59.4%

MEP1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs143349103
dbSNP Clinvar
29793380 0.0 G A PASS 0/1 84 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00020 0.00020 0.00017 None None None None None None GAREM|0.233473449|33.05%,MEP1B|0.034458844|67.63%
View exome_all 18 rs71361372
dbSNP Clinvar
29782953 0.0 A G PASS 0/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00719 0.00719 0.01279 0.00 0.99 None None None None None None GAREM|0.233473449|33.05%,MEP1B|0.034458844|67.63%
View exome_all 18 rs4799640
dbSNP Clinvar
29788107 0.0 G A PASS 0/1 179 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23043 0.23040 0.25100 None None None None None None GAREM|0.233473449|33.05%,MEP1B|0.034458844|67.63%
View exome_all 18 rs173032
dbSNP Clinvar
29795076 0.0 T C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.69349 0.69350 0.38220 None None None None None None GAREM|0.233473449|33.05%,MEP1B|0.034458844|67.63%
View exome_all 18 rs233223
dbSNP Clinvar
29795101 0.0 T C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.25177 1.00 0.00 None None None None None None GAREM|0.233473449|33.05%,MEP1B|0.034458844|67.63%
View exome_all 18 rs616114
dbSNP Clinvar
29797921 0.0 C T PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.35583 0.35580 0.39231 1.00 0.00 None None None None None None GAREM|0.233473449|33.05%,MEP1B|0.034458844|67.63%

MOCOS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs646424
dbSNP Clinvar
33779821 0.0 C A PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.99541 0.99540 0.00723 None None None None None None MOCOS|0.024312785|72.09%
View exome_all 18 rs594445
dbSNP Clinvar
33831189 0.0 C A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.22284 0.22280 0.21890 0.01 0.14 None None None None None None MOCOS|0.024312785|72.09%
View exome_all 18 rs678560
dbSNP Clinvar
33785093 0.0 G A PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.85503 0.85500 0.09603 0.36 0.02 None None None None None None MOCOS|0.024312785|72.09%
View exome_all 18 rs623558
dbSNP Clinvar
33780020 0.0 A G PASS 1/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.99261 0.99260 0.00877 0.22 0.00 None None None None None None MOCOS|0.024312785|72.09%
View exome_all 18 rs540967
dbSNP Clinvar
33779896 0.0 A G PASS 1/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.99341 0.99340 0.00877 0.73 0.00 None None None None None None MOCOS|0.024312785|72.09%
View exome_all 18 rs667667
dbSNP Clinvar
33785185 0.0 A G PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.99281 0.99280 0.00884 None None None None None None MOCOS|0.024312785|72.09%
View exome_all 18 rs623053
dbSNP Clinvar
33779855 0.0 C T PASS 1/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.86442 0.86440 0.08765 0.80 0.00 None None None None None None MOCOS|0.024312785|72.09%

MYO5B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs1815930
dbSNP Clinvar
47563299 0.0 T C PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.97344 0.97340 0.02279 1.00 0.00 None None None None None None MYO5B|0.123721802|46.86%

MYOM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs2230162
dbSNP Clinvar
3176063 0.0 C T PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.27316 0.27320 0.29397 None None None None None None MYOM1|0.167204206|40.63%
View exome_all 18 rs2230163
dbSNP Clinvar
3173964 0.0 G A PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.31609 0.31610 0.33950 0.70 0.00 0.08071 T None None None None MYOM1|0.167204206|40.63%
View exome_all 18 rs2230164
dbSNP Clinvar
3067278 0.0 A G PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.59445 0.59440 0.42935 None None None None None None MYOM1|0.167204206|40.63%
View exome_all 18 rs2230167
dbSNP Clinvar
3168816 0.0 G A PASS 1/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28215 0.28210 0.27916 None None None None None None MYOM1|0.167204206|40.63%
View exome_all 18 rs1791085
dbSNP Clinvar
3215158 0.0 C G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.12800 0.12800 0.09690 1.00 0.00 None None None None None None MYOM1|0.167204206|40.63%
View exome_all 18 rs1662316
dbSNP Clinvar
3215156 0.0 C G PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.12899 0.12900 0.09704 1.58 0.01 0.35231 T None None None None MYOM1|0.167204206|40.63%
View exome_all 18 rs1071600
dbSNP Clinvar
3126811 0.0 A G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.25439 0.25440 0.17958 0.91 0.00 None None None None None None MYOM1|0.167204206|40.63%
View exome_all 18 rs1962519
dbSNP Clinvar
3188976 0.0 A G PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.44329 0.44330 0.34133 0.01 0.00 None None None None None None MYOM1|0.167204206|40.63%
View exome_all 18 rs8099021
dbSNP Clinvar
3176040 0.0 C G PASS 1/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.75719 0.75720 0.25437 0.48 0.00 None None None None None None MYOM1|0.167204206|40.63%

NDUFV2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs906807
dbSNP Clinvar
9117867 0.0 T C PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.77895 0.77900 0.20046 1.00 0.00 None None None None None None NDUFV2|0.511481053|15.31%

NEDD4L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs4149601
dbSNP Clinvar
55816791 0.0 G A PASS 0/1 56 None None None 0.27616 0.27620 0.34034 None None None None None None NEDD4L|0.694589735|8.66%

NPC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View exome_all 18 rs12970899
dbSNP Clinvar
21148863 0.0 A G PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.10982 0.10980 0.13809 None None None None None None NPC1|0.141724211|44.18%
View exome_all 18 rs1788799
dbSNP Clinvar
21124945 0.0 C G PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.83167 0.83170 0.26534 1.00 0.00 None None None None None None NPC1|0.141724211|44.18%