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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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Genes at Omim

ANLN, ASPN, ATXN3, BPTF, CACNA1A, CHCHD10, CPS1, DDHD1, FZD2, GDF5, GREB1L, HOXB1, KRT3, KRT4, MYO5B, PCLO, PDE11A, PIEZO1, RP1L1, RTTN, TICAM1, TSPYL1,
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)
Spinal muscular atrophy, Jokela type, 615048 (3)
?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
FZD2 Omodysplasia 2, 164745 (3)
GDF5 Brachydactyly, type A1, C, 615072 (3)
Brachydactyly, type A2, 112600 (3)
Brachydactyly, type C, 113100 (3)
Chondrodysplasia, Grebe type, 200700 (3)
{Osteoarthritis-5}, 612400 (3)
Du Pan syndrome, 228900 (3)
Multiple synostoses syndrome 2, 610017 (3)
Symphalangism, proximal, 1B, 615298 (3)
?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
KRT4 White sponge nevus 1, 193900 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)

Genes at Clinical Genomics Database

ANLN, ATXN3, CACNA1A, CHCHD10, CPS1, GDF5, HOXB1, KRT3, KRT4, MYO5B, PDE11A, PIEZO1, RP1L1, RTTN, TICAM1, TSPYL1,
ANLN Focal segmental glomerulosclerosis 8
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
CPS1 Carbamoylphosphate synthetase I deficiency
GDF5 Acromesomelic dysplasia, Hunter-Thompson type
Fibular hypoplasia and complex brachydactyly
Multiple synostoses syndrome 2
Chondrodysplasia, Grebe type
Symphalangism, proximal 1B
Brachydactyly, type A1
Brachydactyly, type A1, C
Brachydactyly, type A2
Brachydactyly, type C
HOXB1 Facial paresis, hereditary congenital, 3
KRT3 Meesmann corneal dystrophy
KRT4 White sponge nevus 1
MYO5B Diarrhea 2, with microvillus atrophy
PDE11A Pigmented nodular adrenocortical disease, primary, 2
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome
46, XY disorder of sex development

Genes at HGMD

Summary

Number of Variants: 68
Number of Genes: 67

Export to: CSV
  • Page 1 of 1

AK5

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 cds 3403_16 1 rs79671213
dbSNP Clinvar
78024345 520.0 C CTAT PASS 0/1 0 CODON_INSERTION MODERATE None 0.61961 0.61960 0.35982 None None None None None None AK5|0.166834889|40.71%

ANLN

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 cds 3403_16 7 rs61549495
dbSNP Clinvar
36447349 1570.0 A ACTT PASS 0/1 0 CODON_INSERTION MODERATE None 0.44948 0.44950 0.38393 None None None None None None ANLN|0.180116375|39.04%

ARHGEF17

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 cds 3403_16 11 rs113363731
dbSNP Clinvar
73020375 610.0 G GCTC PASS 0/1 0 CODON_INSERTION MODERATE None 0.29892 0.29890 0.34846 None None None None None None ARHGEF17|0.03247462|68.39%

ART5

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 cds 3403_16 11 rs3062849
dbSNP Clinvar
3661585 3070.0 A ATGG PASS 1/1 0 CODON_INSERTION MODERATE None 0.96745 0.96750 0.03526 None None None None None None ART5|0.101580058|50.85%

ASPN

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 cds 3403_16 9 rs878929025,rs397838876,rs557103556
dbSNP Clinvar
95237024 1902.0 CTCA CT... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ATXN3

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 cds 3403_16 14 rs763541221
dbSNP Clinvar
92537354 3070.0 C CC... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None ATXN3|0.681306976|9.03%

BAIAP2L2

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 cds 3403_16 22 rs200930717
dbSNP Clinvar
38483174 206.0 A AC... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None BAIAP2L2|0.045525826|64.05%

BPTF

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 cds 3403_16 17 rs139709271
dbSNP Clinvar
65955758 707.0 T TC... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None BPTF|0.199279409|36.79%

C12orf56

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 cds 3403_16 12 rs113411861
dbSNP Clinvar
64712546 3070.0 A AGTT PASS 1/1 0 CODON_INSERTION MODERATE None 0.43810 0.43810 0.45456 None None None None None None C12orf56|0.034622904|67.57%

C8orf59

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 cds 3403_16 8 rs112611553
dbSNP Clinvar
86126827 3070.0 C CA... PASS 1/1 0 CODON_INSERTION MODERATE None 0.99720 0.99720 0.00399 None None None None None None E2F5|0.388960651|21.48%,C8orf59|0.106330723|49.9%

CACNA1A

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 cds 3403_16 19 rs16054
dbSNP Clinvar
13318672 309.0 CC... C,... PASS 2/3 0 CODON_INSERTION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%

CCDC180

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 cds 3403_16 9 rs113264216,rs71369506
dbSNP Clinvar
100092968 2299.0 A AG... PASS 1/1 0 CODON_INSERTION MODERATE None 0.59145 0.59150 None None None None None None CCDC180|0.009048134|81.61%

CCDC66

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 cds 3403_16 3 rs112267342
dbSNP Clinvar
56650054 1029.0 T TCTC PASS 0/1 0 CODON_INSERTION MODERATE None 0.58959 None None None None None None CCDC66|0.050930369|62.39%

CDK11A

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 cds 3403_16 1 rs144636354,rs199866927
dbSNP Clinvar
1647893 2529.0 C CT... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None CDK11A|0.02662445|71.07%

CHCHD10

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 cds 3403_16 22 . 24108461 84.0 G GGCC PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None CHCHD10|0.015011656|77.11%

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 cds 3403_16 18 rs10663835,rs60017744
dbSNP Clinvar
72223591 816.0 G GTGC PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None CNDP1|0.024865105|71.86%

CPS1

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 cds 3403_16 2 rs61509952
dbSNP Clinvar
211421452 1895.0 A ATCT PASS 0/1 0 CODON_INSERTION MODERATE None 0.47704 0.47700 0.46149 None None None None None None CPS1|0.827402852|5.16%

DDHD1

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 cds 3403_16 14 rs140904345,rs55671452
dbSNP Clinvar
53619480 1777.0 T TG... PASS 0/1 0 CODON_INSERTION MODERATE None 0.78534 0.78530 None None None None None None DDHD1|0.165614738|40.86%

EOMES

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 cds 3403_16 3 rs368178421
dbSNP Clinvar
27763427 75.0 G GC... PASS 0/1 0 CODON_INSERTION MODERATE None 0.00040 0.53610 0.23557 None None None None None None EOMES|0.479287595|16.79%

EPPK1

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 cds 3403_16 8 rs782677915
dbSNP Clinvar
144940203 1059.0 C CGGG PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None EPPK1|0.004907463|85.91%

FAM155A

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 cds 3403_16 13 rs777261525,rs775886294
dbSNP Clinvar
108518686 1205.0 T TCTG PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None FAM155A|0.381864835|21.92%

FAM98C

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 cds 3403_16 19 rs142977446,rs761649590,rs59917662
dbSNP Clinvar
38899501 153.0 C CAAG PASS 0/1 0 CODON_INSERTION MODERATE None 0.09345 0.09345 None None None None None None FAM98C|0.016115397|76.41%

FOXD4L5

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 cds 3403_16 9 . 70176806 65.0 G GTCC PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None FOXD4L5|0.001233365|94.27%

FZD2

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 cds 3403_16 17 rs753676516
dbSNP Clinvar
42635088 73.0 T TG... PASS 0/1 0 CODON_INSERTION MODERATE None 0.00242 None None None None None None FZD2|0.528871944|14.63%

GDF5

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 cds 3403_16 20 . 34021834 133.0 G GAAA PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None GDF5OS|0.133260106|45.39%,GDF5|0.812568792|5.52%

GOLGA8R

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 cds 3403_16 15 rs372647671
dbSNP Clinvar
30700168 1415.0 C CTTG PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None GOLGA8R|0.001465898|92.97%

GPRIN2

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 cds 3403_16 10 rs112620425
dbSNP Clinvar
46999591 1366.0 C CA... PASS 0/1 0 CODON_INSERTION MODERATE None 0.47903 0.47900 0.49369 None None None None None None GPRIN2|0.008107767|82.54%

GREB1L

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 cds 3403_16 18 rs34960489,rs10654340
dbSNP Clinvar
19100758 3070.0 A ATCT PASS 1/1 0 CODON_INSERTION MODERATE None 0.99541 0.99540 0.00367 None None None None None None GREB1L|0.672050705|9.33%

HAVCR1

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 cds 3403_16 5 rs141023871,rs6149307
dbSNP Clinvar
156479557 3070.0 GT... G,... PASS 1/2 0 CODON_INSERTION MODERATE None 0.58227 0.58230 0.42746 None None None None None None HAVCR1|0.00064813|97.55%

HOXB1

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 cds 3403_16 17 rs534792734,rs145570960
dbSNP Clinvar
46608184 3070.0 G GG... PASS 0/1 0 CODON_INSERTION MODERATE None 0.13319 0.13320 0.17690 None None None None None None HOXB1|0.48868105|16.37%

HSPBP1

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 cds 3403_16 19 rs3040014
dbSNP Clinvar
55790886 1319.0 A AG... PASS 1/1 0 CODON_INSERTION MODERATE None None None None None None None HSPBP1|0.08555301|54.04%

KCNN3

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 cds 3403_16 1 rs3831942,rs56352724
dbSNP Clinvar
154842199 2167.0 G GG... PASS 1/2 0 CODON_INSERTION MODERATE None None None None None None None KCNN3|0.329640894|25.51%

KRT3

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 cds 3403_16 12 rs570613061,rs60125653
dbSNP Clinvar
53183951 1489.0 C CG... PASS 0/1 0 CODON_INSERTION MODERATE None 0.08886 0.08886 0.11001 None None None None None None KRT3|0.041114774|65.41%

KRT4

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 cds 3403_16 12 rs11267392
dbSNP Clinvar
53207583 3070.0 C CC... PASS 1/1 0 CODON_INSERTION MODERATE None 0.00080 0.87900 None None None None None None KRT4|0.094749162|52.19%

LURAP1L

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 cds 3403_16 9 rs139315731,rs3833707
dbSNP Clinvar
12775861 1835.0 T TG... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None LURAP1L|0.198109841|36.91%

MUC13

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 cds 3403_16 3 rs10630030,rs397759224
dbSNP Clinvar
124646705 3070.0 A AAAG PASS 1/1 0 CODON_INSERTION MODERATE None 0.98602 0.98600 0.01334 None None None None None None MUC13|0.000146036|99.87%

MUC3A

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 cds 3403_16 7 rs112753297,rs374444410
dbSNP Clinvar
100551637 3070.0 C CCAA PASS 0/1 0 CODON_INSERTION MODERATE None 0.39046 None None None None None None MUC3A|0.001683398|91.94%

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 cds 3403_16 18 rs397841722
dbSNP Clinvar
47405425 3070.0 T TGAG PASS 1/1 0 CODON_INSERTION MODERATE None 0.40475 0.40480 0.30170 None None None None None None MYO5B|0.123721802|46.86%

NADK

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 cds 3403_16 1 rs150880809,rs71578334,rs765479702
dbSNP Clinvar
1684347 106.0 C CCCT PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None NADK|0.029857865|69.48%

NCOR2

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 cds 3403_16 12 rs879061669
dbSNP Clinvar
124887058 1184.0 G GGCT PASS 0/1 0 CODON_INSERTION MODERATE None 0.30651 0.30650 None None None None None None NCOR2|0.460506037|17.66%

NOX4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3403_16 11 rs34495256,rs398115612
dbSNP Clinvar
89224131 3070.0 T TCTC PASS 1/1 0 CODON_INSERTION MODERATE None 0.42073 0.42070 None None None None None None NOX4|0.381098798|21.97%

NR1H2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3403_16 19 rs34296657,rs57821899
dbSNP Clinvar
50881822 3033.0 A ACAG PASS 1/1 0 CODON_INSERTION MODERATE None 0.39677 0.39680 None None None None None None NR1H2|0.484472054|16.53%

OR5P2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3403_16 11 rs138967151
dbSNP Clinvar
7818383 3070.0 G GA... PASS 0/1 0 CODON_INSERTION MODERATE None 0.23363 0.23360 None None None None None None OR5P2|0.027495542|70.66%

PCLO

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3403_16 7 . 82784833 1655.0 T TT... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None PCLO|0.112401256|48.79%
View cds 3403_16 7 . 82784831 1312.0 T TG... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None PCLO|0.112401256|48.79%

PDE11A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3403_16 2 rs3830637,rs397723704
dbSNP Clinvar
178494173 3070.0 G GGGA PASS 1/1 0 CODON_INSERTION MODERATE None 0.58766 0.58770 0.40711 None None None None None None PDE11A|0.740114937|7.36%

PIEZO1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3403_16 16 rs11281795
dbSNP Clinvar
88789666 746.0 G GC... PASS 0/1 0 CODON_INSERTION MODERATE None 0.11382 0.11380 0.14962 None None None None None None PIEZO1|0.03248512|68.39%

PRDM2

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 cds 3403_16 1 rs2308040,rs59028030
dbSNP Clinvar
14106394 2031.0 A ACTC PASS 0/1 0 CODON_INSERTION MODERATE None 0.46980 None None None None None None PRDM2|0.168607975|40.49%

PRUNE2

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 cds 3403_16 9 rs11267622
dbSNP Clinvar
79324135 3070.0 A AT... PASS 0/1 0 CODON_INSERTION MODERATE None 0.50320 0.50320 0.47869 None None None None None None PRUNE2|0.26380863|30.4%

RALY

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 cds 3403_16 20 rs10649600
dbSNP Clinvar
32664864 1212.0 C CCAG PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None RALY|0.302394222|27.46%

RBM23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3403_16 14 rs61680322,rs397812315
dbSNP Clinvar
23371255 3070.0 G GGGC PASS 1/1 0 CODON_INSERTION MODERATE None 0.52240 None None None None None None RBM23|0.17375413|39.82%

RBMXL3

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 cds 3403_16 X rs782097222,rs55659078
dbSNP Clinvar
114425181 3070.0 A AG... PASS 0/1 0 CODON_INSERTION MODERATE None 0.00053 0.91890 0.09940 None None None None None None LRCH2|0.349596138|24.16%,RBMXL3|0.001057182|95.12%

RP1L1

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 cds 3403_16 8 rs146656804
dbSNP Clinvar
10467629 1082.0 T TTTC PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None RP1L1|0.000840698|96.44%

RPL14

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 cds 3403_16 3 rs111899316
dbSNP Clinvar
40503518 1800.0 GTAC GT... PASS 1/1 0 CODON_INSERTION MODERATE None 0.04213 0.04213 None None None None None None RPL14|0.064797243|58.69%

RTTN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3403_16 18 rs74941514
dbSNP Clinvar
67863850 3070.0 T TCTC PASS 1/1 0 CODON_INSERTION MODERATE None 0.95268 0.95270 0.04596 None None None None None None RTTN|0.045017499|64.2%

SERINC2

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 cds 3403_16 1 rs3050461,rs5773362
dbSNP Clinvar
31905889 518.0 A ACAG PASS 0/1 0 CODON_INSERTION MODERATE None 0.73902 0.73900 None None None None None None SERINC2|0.042418006|64.98%

SGK223

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 cds 3403_16 8 rs150979349,rs59372311
dbSNP Clinvar
8234868 855.0 C CG... PASS 1/1 0 CODON_INSERTION MODERATE None 0.59505 0.59500 None None None None None None None

SKIDA1

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 cds 3403_16 10 rs112207161,rs754441279
dbSNP Clinvar
21805466 736.0 C CC... PASS 0/1 0 CODON_INSERTION MODERATE None 0.54074 0.54070 0.37238 None None None None None None SKIDA1|0.439515262|18.69%

SPATA21

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 cds 3403_16 1 rs139527123,rs80260069
dbSNP Clinvar
16727305 1385.0 G GCTT PASS 0/1 0 CODON_INSERTION MODERATE None 0.09924 0.09924 0.15567 None None None None None None SPATA21|0.007064392|83.42%

TICAM1

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 cds 3403_16 19 rs144100421,rs776163987,rs11466722
dbSNP Clinvar
4817288 1109.0 A AAGG PASS 0/1 0 CODON_INSERTION MODERATE None 0.15935 0.15930 None None None None None None TICAM1|0.001006178|95.39%

TMEM184A

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 cds 3403_16 7 rs112463195,rs200315697
dbSNP Clinvar
1586653 1691.0 A AGCC PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None TMEM184A|0.023863056|72.28%

TSPYL1

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 cds 3403_16 6 rs78371471,rs397735194
dbSNP Clinvar
116600465 3070.0 T TCAC PASS 1/1 0 CODON_INSERTION MODERATE None 0.87220 0.87220 0.27113 None None None None None None DSE|0.823278071|5.23%,TSPYL1|0.00455159|86.36%

TTLL11

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 cds 3403_16 9 rs201653732,rs3833704
dbSNP Clinvar
124855330 108.0 G GT... PASS 0/1 0 CODON_INSERTION MODERATE None 0.13538 0.13540 0.23053 None None None None None None TTLL11|0.118027056|47.74%

VKORC1L1

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 cds 3403_16 7 rs772832119
dbSNP Clinvar
65419353 841.0 TTTA TT... PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None VKORC1L1|0.132005982|45.62%

ZMYM3

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 cds 3403_16 X . 70466329 42.0 G GGGC PASS 0/1 0 CODON_INSERTION MODERATE None None None None None None None ZMYM3|0.316690939|26.32%

ZNF714

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 cds 3403_16 19 rs36125838,rs57999210
dbSNP Clinvar
21299774 3070.0 T TATA PASS 0/1 0 CODON_INSERTION MODERATE None 0.84145 0.84150 0.14029 None None None None None None ZNF714|0.001187991|94.48%

ZNF814

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 cds 3403_16 19 rs10687775
dbSNP Clinvar
58385869 2093.0 C CATA PASS 1/1 0 CODON_INSERTION MODERATE None 0.50739 0.50740 None None None None None None ZNF814|0.001599534|92.34%

ZNF816

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 cds 3403_16 19 rs33949217
dbSNP Clinvar
53454475 3070.0 C CA... PASS 0/1 0 CODON_INSERTION MODERATE None 0.46506 0.46510 0.45550 None None None None None None ZNF816|0.000923354|95.92%,ZNF321P|0.001360128|93.55%
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