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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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CADD

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MCAP

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Genes at Omim

ALG11, ATP7B, ATP8A2, BRCA2, CARS2, CENPJ, CLN5, COG6, COL4A1, COL4A2, DIAPH3, EDNRB, ERCC5, EXOSC8, F10, FGF9, FLT3, FREM2, GJA3, GPC6, GRK1, HTR2A, ING1, IRS2, KL, NALCN, PCCA, PHF11, POLR1D, PROZ, RCBTB1, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SUCLA2, TBC1D4, TNFSF11,
ALG11 Congenital disorder of glycosylation, type Ip, 613661 (3)
ATP7B Wilson disease, 277900 (3)
ATP8A2 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
BRCA2 Fanconi anemia, complementation group D1, 605724 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
CARS2 Combined oxidative phosphorylation deficiency 27, 616672 (3)
CENPJ ?Seckel syndrome 4, 613676 (3)
Microcephaly 6, primary, autosomal recessive, 608393 (3)
CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
COG6 Congenital disorder of glycosylation, type IIl, 614576 (3)
Shaheen syndrome, 615328 (3)
COL4A1 ?Retinal arteries, tortuosity of, 180000 (3)
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
Brain small vessel disease with or without ocular anomalies, 607595 (3)
Porencephaly 1, 175780 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
COL4A2 Porencephaly 2, 614483 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
DIAPH3 Auditory neuropathy, autosomal dominant, 1, 609129 (3)
EDNRB ABCD syndrome, 600501 (3)
Waardenburg syndrome, type 4A, 277580 (3)
{Hirschsprung disease, susceptibility to, 2}, 600155 (3)
ERCC5 Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXOSC8 Pontocerebellar hypoplasia, type 1C, 616081 (3)
F10 Factor X deficiency, 227600 (3)
FGF9 ?Multiple synostoses syndrome 3, 612961 (3)
FLT3 Leukemia, acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
FREM2 Fraser syndrome, 219000 (3)
GJA3 Cataract 14, multiple types, 601885 (3)
GPC6 Omodysplasia 1, 258315 (3)
GRK1 Oguchi disease-2, 613411 (3)
HTR2A {Alcohol dependence, susceptibility to}, 103780 (3)
{Anorexia nervosa, susceptibility to}, 606788 (3)
{Major depressive disorder, response to citalopram therapy in}, 608516 (3)
{Obsessive-compulsive disorder, susceptibility to}, 164230 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Seasonal affective disorder, susceptibility to}, 608516 (3)
ING1 Squamous cell carcinoma, head and neck, somatic, 275355 (3)
IRS2 {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KL Tumoral calcinosis, hyperphosphatemic, 211900 (3)
{Coronary artery disease, susceptibility to} (3)
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
PCCA Propionicacidemia, 606054 (3)
PHF11 [IgE levels QTL], 147050 (3)
{Asthma}, 600807 (3)
POLR1D Treacher Collins syndrome 2, 613717 (3)
PROZ [Protein Z deficiency], 614024 (3)
RCBTB1 [Beta-glycopyranoside tasting] (3)
{Alcohol dependence, susceptibility to}, 103780 (3)
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SGCG Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
SLC10A2 Bile acid malabsorption, primary, 613291 (3)
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLITRK6 Deafness and myopia, 221200 (3)
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
TBC1D4 {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
TNFSF11 Osteopetrosis, autosomal recessive 2, 259710 (3)

Genes at Clinical Genomics Database

ALG11, ATP7B, BRCA2, CARS2, CENPJ, CLN5, COG6, COL4A1, COL4A2, EDNRB, ERCC5, EXOSC8, F10, FGF9, FREM2, GJA3, GPC6, GRK1, HTR2A, IFT88, KL, NALCN, PCCA, POLR1D, PROZ, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SUCLA2, TBC1D4, TNFSF11,
ALG11 Congenital disorder of glycosylation, type Ip
ATP7B Wilson disease
BRCA2 Medulloblastoma
Wilms tumor
Fanconi anemia, complementation group D1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to
CARS2 Combined oxidative phosphorylation deficiency 27
CENPJ Microcephaly, primary autosomal recessive, 6
Seckel syndrome 4
CLN5 Ceroid lipofuscinosis, neuronal, 5
COG6 Congenital disorder of glycosylation, type Iil
COL4A1 Schizencephaly
Retinal artery tortuosity
Porencephaly 1
Anterior segment dysgenesis with cerebral involvement
Brain small vessel disease with or without ocular anomalies
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
COL4A2 Hemorrhage, intracerebral, susceptibility to
EDNRB Hirschsprung disease, susceptibility to, 2
ABCD syndrome
Waardenburg syndrome type 4A
ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome
Xeroderma pigmentosum, group G
EXOSC8 Pontocerebellar hypoplasia, type 1C
F10 Factor X deficiency
FGF9 Multiple synostoses syndrome 3
FREM2 Fraser syndrome
GJA3 Cataract 14, multiple types
GPC6 Omodysplasia 1
GRK1 Oguchi disease 2
HTR2A Clozapine, response to
Major depressive disorder, response to citalopram therapy in
IFT88 Ciliopathy, IFT88-related
KL Tumoral calcinosis, hyperphosphatemic
NALCN Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay
PCCA Propionic acidemia
POLR1D Treacher Collins syndrome 2
PROZ Protein Z deficiency
RXFP2 Cryptorchidism
SACS Spastic ataxia, Charlevoix-Saguenay type
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC10A2 Bile acid malabsorption, primary
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLITRK6 Deafness and myopia
SUCLA2 Mitochondrial DNA depletion syndrome 5
TBC1D4 Diabetes mellitus, noninsulin-dependent 5
TNFSF11 Osteopetrosis, autosomal recessive 2

Genes at HGMD

Summary

Number of Variants: 2780
Number of Genes: 179

Export to: CSV

ABCC4

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 mm170241ct 13 rs1751034
dbSNP
95714976 2422.77 C T . 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.79433 0.79430 0.20345 None None None None None None None
View mm170241ct 13 rs1678339
dbSNP
95727780 1425.77 T C . 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.88778 0.88780 0.07420 None None None None None None None
View mm170241ct 13 rs11568703
dbSNP
95858912 890.77 C T . 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.00200 0.00200 0.00308 None None None None None None None
View mm170241ct 13 rs1189466
dbSNP
95726541 5383.77 A G . 1/1 162 SYNONYMOUS_CODING LOW SILENT 0.90355 0.90360 0.05467 None None None None None None None

AKAP11

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 mm170241ct 13 rs17521586
dbSNP
42882620 642.77 C T . 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.11422 0.11420 0.12333 None None None None None None None
View mm170241ct 13 rs9315906
dbSNP
42877265 2952.77 G C . 0/1 258 SYNONYMOUS_CODING LOW SILENT 0.13478 0.13480 0.12333 None None None None None None None
View mm170241ct 13 rs17063163
dbSNP
42876091 3367.77 A G . 0/1 241 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.00140 0.00446 0.06 0.02 None None None None None None None
View mm170241ct 13 rs2273951
dbSNP
42872779 5649.77 C T . 0/1 380 SYNONYMOUS_CODING LOW SILENT 0.11382 0.11380 0.12317 None None None None None None None
View mm170241ct 13 rs2273952
dbSNP
42872719 3985.77 A G . 0/1 346 SYNONYMOUS_CODING LOW SILENT 0.11382 0.11380 0.12319 None None None None None None None

AL136218.1

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 mm170241ct 13 rs3764090
dbSNP
50008301 6915.77 A G . 1/1 197 SYNONYMOUS_CODING LOW SILENT 0.83167 0.83170 None None None None None None None

ALG11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs61958802
dbSNP
52598799 3100.77 G A . 0/1 195 SYNONYMOUS_CODING LOW SILENT 0.03015 0.03015 0.03621 None None None None None None None

ARHGEF7

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 mm170241ct 13 rs2296354
dbSNP
111870037 2616.77 T C . 0/1 200 SYNONYMOUS_CODING LOW SILENT 0.24880 0.24880 0.12763 None None None None None None None

ARL11

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 mm170241ct 13 rs3803185
dbSNP
50205025 805.77 T C . 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25379 0.25380 0.38925 0.52 0.00 None None None None None None None

ATP11A

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 mm170241ct 13 rs9577174
dbSNP
113534907 404.77 T C . 0/1 33 None None None 0.39018 0.39020 None None None None None None None
View mm170241ct 13 rs1290177
dbSNP
113536132 400.77 T C . 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.56490 0.56490 0.46179 None None None None None None None
View mm170241ct 13 rs368865
dbSNP
113479820 235.77 A G . 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84225 0.84230 0.20145 1.00 0.00 None None None None None None None

ATP12A

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 mm170241ct 13 rs2289901
dbSNP
25272870 1053.77 C T . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.24780 0.24780 0.24143 None None None None None None None

ATP4B

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 mm170241ct 13 rs11164142
dbSNP
114309226 843.77 G A . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.47324 0.47320 0.39028 None None None None None None None
View mm170241ct 13 rs9285616
dbSNP
114312354 251.78 T G . 1/1 10 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 0.00008 None None None None None None None

ATP7B

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 mm170241ct 13 rs1801249
dbSNP
52515354 2672.77 A G . 1/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54054 0.54050 0.42244 1.00 0.00 None None None None None None None
View mm170241ct 13 rs1801247
dbSNP
52520471 129.77 C T . 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.03694 0.03694 0.03991 None None None None None None None
View mm170241ct 13 rs732774
dbSNP
52523808 6553.77 C T . 1/1 181 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53095 0.53100 0.42835 1.00 0.00 None None None None None None None
View mm170241ct 13 rs1061472
dbSNP
52524488 1310.77 T C . 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50240 0.50240 0.44783 0.07 0.22 None None None None None None None

ATP8A2

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 mm170241ct 13 rs6491066
dbSNP
26148966 5312.77 C T . 1/1 161 SYNONYMOUS_CODING LOW SILENT 0.53634 0.53630 0.29168 None None None None None None None
View mm170241ct 13 rs7317185
dbSNP
26043182 2483.77 A C . 1/1 77 SYNONYMOUS_CODING LOW SILENT 0.20407 0.20410 0.24120 None None None None None None None
View mm170241ct 13 rs6491088
dbSNP
26273385 2578.77 G C . 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.98742 0.98740 0.01018 None None None None None None None
View mm170241ct 13 rs7335858
dbSNP
26273403 1250.77 C A . 0/1 78 SYNONYMOUS_CODING LOW SILENT 0.07288 0.07288 0.10798 None None None None None None None

B3GALTL

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 mm170241ct 13 rs376636701
dbSNP
31848758 781.77 C T . 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.00 0.82 None None None None None None None
View mm170241ct 13 rs4943266
dbSNP
31821992 4656.77 T C . 1/1 124 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.97544 0.97540 0.03601 None None None None None None None

BIVM

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 mm170241ct 13 rs139012037
dbSNP
103492133 1709.77 C T . 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00231 0.09 0.01 None None None None None None None

BRCA2

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 mm170241ct 13 rs543304
dbSNP
32912299 3447.77 T C . 0/1 251 SYNONYMOUS_CODING LOW SILENT 0.16813 0.16810 0.19111 None None None None None None None
View mm170241ct 13 rs1801406
dbSNP
32911888 3812.77 A G . 0/1 266 SYNONYMOUS_CODING LOW SILENT 0.26677 0.26680 0.27984 None None None None None None None
View mm170241ct 13 rs206075
dbSNP
32913055 9009.77 A G . 1/1 254 SYNONYMOUS_CODING LOW SILENT 0.97404 0.97400 0.02423 None None None None None None None
View mm170241ct 13 rs206076
dbSNP
32915005 6656.77 G C . 1/1 185 SYNONYMOUS_CODING LOW SILENT 0.00040 0.97360 0.02453 None None None None None None None
View mm170241ct 13 rs1799955
dbSNP
32929232 2736.77 A G . 0/1 205 SYNONYMOUS_CODING LOW SILENT 0.23263 0.23260 0.21136 None None None None None None None
View mm170241ct 13 rs169547
dbSNP
32929387 4525.77 T C . 1/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None None

C13orf45

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 mm170241ct 13 rs9600567
dbSNP
76445316 2943.77 C T . 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.47085 0.47080 None None None None None None None

C1QTNF9

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 mm170241ct 13 rs3751357,rs79586693
dbSNP
24895559 3371.77 A G . 0/1 286 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None
View mm170241ct 13 rs2862239
dbSNP
24895684 10983.77 A G . 1/1 371 SYNONYMOUS_CODING LOW SILENT 0.89577 0.89580 0.12392 None None None None None None None
View mm170241ct 13 rs77554188
dbSNP
24895745 1602.77 A G . 0/1 282 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12087 0.48 0.05 None None None None None None None
View mm170241ct 13 rs3751355
dbSNP
24895393 100.77 A G . 0/1 59 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 13 rs4275724
dbSNP
24890228 871.77 A C . 0/1 83 SYNONYMOUS_CODING LOW SILENT 0.26757 0.26760 0.22092 None None None None None None None
View mm170241ct 13 rs1974332
dbSNP
24890157 874.77 C T . 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26398 0.26400 0.21652 0.01 0.02 None None None None None None None
View mm170241ct 13 rs202198487
dbSNP
24895437 1659.77 G A . 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17372 0.17370 0.09963 0.29 0.14 None None None None None None None
View mm170241ct 13 rs78083136
dbSNP
24895631 2256.77 T A . 0/1 383 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

C1QTNF9B

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 mm170241ct 13 rs66990269
dbSNP
24471039 1112.77 T G . 0/1 83 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 13 rs3864971
dbSNP
24465743 4804.77 A G . 1/1 192 SYNONYMOUS_CODING LOW SILENT 0.98383 0.98380 0.01517 None None None None None None None
View mm170241ct 13 rs4067961
dbSNP
24468329 191.77 A G . 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35523 0.35520 0.12710 0.36 0.00 None None None None None None None

CAB39L

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 mm170241ct 13 rs8002858
dbSNP
49951193 2731.77 T C . 1/1 88 SYNONYMOUS_CODING LOW SILENT 0.49581 0.49580 0.41865 None None None None None None None
View mm170241ct 13 rs8002829
dbSNP
49951142 2721.77 T C . 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.49581 0.49580 0.41858 None None None None None None None

CARKD

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 mm170241ct 13 rs41275126
dbSNP
111290630 209.77 T C . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08546 0.08546 0.11133 0.07 0.01 None None None None None None None

CARS2

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 mm170241ct 13 rs436462
dbSNP
111298392 196.77 A G . 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.47424 0.47420 0.41281 None None None None None None None
View mm170241ct 13 rs1043886
dbSNP
111293915 313.77 T G . 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08187 0.08187 0.10441 0.49 0.00 None None None None None None None
View mm170241ct 13 rs9521906
dbSNP
111358000 1840.77 T G . 0/1 142 None None None 0.09205 0.09205 0.71 0.00 None None None None None None None
View mm170241ct 13 rs4628819
dbSNP
111319754 7921.77 T C . 1/1 219 SYNONYMOUS_CODING LOW SILENT 0.76238 0.76240 0.22520 None None None None None None None

CCDC168

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 mm170241ct 13 rs7982465
dbSNP
103386116 4801.77 C G . 1/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97125 0.97120 0.02650 0.11 0.40 None None None None None None None
View mm170241ct 13 rs7983175
dbSNP
103385798 4488.77 T C . 1/1 126 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97284 0.97280 0.02562 1.00 0.00 None None None None None None None
View mm170241ct 13 rs7982670
dbSNP
103386283 6078.77 A G . 1/1 188 SYNONYMOUS_CODING LOW SILENT 0.97145 0.97140 0.02584 None None None None None None None
View mm170241ct 13 rs6491707
dbSNP
103385015 4335.77 A G . 1/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99581 0.99580 0.00285 0.64 0.00 None None None None None None None
View mm170241ct 13 rs7335290
dbSNP
103385299 3201.82 A C . 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97284 0.97280 0.02584 0.99 0.00 None None None None None None None
View mm170241ct 13 rs17592438
dbSNP
103385534 2047.77 C T . 0/1 152 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10264 0.10260 0.12527 0.54 0.00 None None None None None None None
View mm170241ct 13 rs9554897
dbSNP
103383417 7321.77 T C . 1/1 204 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33746 0.33750 0.38590 1.00 0.00 None None None None None None None
View mm170241ct 13 rs9300758
dbSNP
103388220 3329.77 A G . 1/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99101 0.99100 0.00854 0.09 0.00 None None None None None None None

CCDC169-SOHLH2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs2296968
dbSNP
36744910 3215.74 C T . 0/1 239 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26298 0.26300 0.18115 1.00 0.00 None None None None None None None

CCDC70

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs1054515
dbSNP
52440130 1549.77 A G . 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35583 0.35580 0.32324 0.51 0.00 None None None None None None None

CDADC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs6561512
dbSNP
49840024 6825.77 A G . 1/1 194 None None None 0.95387 0.95390 0.15 0.00 None None None None None None None

CDX2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs1805107
dbSNP
28537317 392.77 G A . 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72564 0.72560 0.29187 0.08 0.00 None None None None None None None

CENPJ

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs35498994
dbSNP
25487103 1343.77 T C . 0/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01937 0.01937 0.12179 0.01 0.01 None None None None None None None
View mm170241ct 13 rs3742165
dbSNP
25466955 2821.77 T C . 1/1 97 SYNONYMOUS_CODING LOW SILENT 0.48403 0.48400 0.45187 None None None None None None None

CKAP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs7335867
dbSNP
53035925 7832.77 A G . 1/1 213 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99960 0.99960 0.00031 1.00 0.00 None None None None None None None
View mm170241ct 13 rs7337054
dbSNP
53035783 7064.77 T C . 1/1 194 SYNONYMOUS_CODING LOW SILENT 0.99740 0.99740 0.00292 None None None None None None None
View mm170241ct 13 rs35975899
dbSNP
53035665 4428.77 T A . 0/1 295 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02975 0.02975 0.04244 0.37 0.00 None None None None None None None

CLN5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs1800209
dbSNP
77574983 2226.77 A G . 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24461 0.24460 0.18826 1.00 0.00 None None None None None None None
View mm170241ct 13 rs34481987
dbSNP
77570078 3300.77 T G . 0/1 272 SYNONYMOUS_CODING LOW SILENT 0.02756 0.02756 0.01299 None None None None None None None

CLYBL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs3831038,rs57126726,rs796986882
dbSNP
100517195 3947.19 CTG CT... . 1/2 122 None None None 0.24677 None None None None None None None
View mm170241ct 13 rs912284
dbSNP
100537232 2766.77 T C . 1/1 81 None None None 0.82268 0.82270 0.14121 0.00 None None None None None None None
View mm170241ct 13 rs41281112
dbSNP
100518634 929.77 C T . 0/1 52 STOP_GAINED HIGH NONSENSE 0.02196 0.02196 0.02053 None None None None None None None
View mm170241ct 13 rs3783185
dbSNP
100518580 1663.77 A G . 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82508 0.82510 0.23697 0.06 0.34 None None None None None None None

COG3

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs2985959
dbSNP
46067593 1951.77 G A . 0/1 124 SYNONYMOUS_CODING LOW SILENT 0.36042 0.36040 0.36852 None None None None None None None
View mm170241ct 13 rs3014902
dbSNP
46108853 2536.77 T C . 1/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99820 0.99820 0.00200 1.00 0.00 None None None None None None None
View mm170241ct 13 rs2985989
dbSNP
46108854 2492.77 G A . 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.81370 0.81370 0.21127 None None None None None None None
View mm170241ct 13 rs2274285
dbSNP
46103935 5546.77 A G . 1/1 156 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68191 0.68190 0.33208 1.00 0.00 None None None None None None None
View mm170241ct 13 rs3014960
dbSNP
46077381 2043.77 G A . 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.90336 0.90340 0.09573 None None None None None None None

COG6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs41286961
dbSNP
40293428 1592.77 T C . 0/1 173 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04732 0.04732 0.05159 0.42 0.00 None None None None None None None
View mm170241ct 13 rs3812883
dbSNP
40229957 170.77 T A . 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48423 0.48420 0.41606 0.80 0.00 None None None None None None None
View mm170241ct 13 rs3812882
dbSNP
40229891 123.77 G A . 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48443 0.48440 0.43809 0.09 0.02 None None None None None None None

COL4A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs995224
dbSNP
110850842 393.77 A G . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.20647 0.20650 0.25250 None None None None None None None
View mm170241ct 13 rs3742207
dbSNP
110818598 1600.77 T G . 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28834 0.28830 0.32124 0.34 None None None None None None None
View mm170241ct 13 rs1133219
dbSNP
110813709 725.77 G A . 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.30791 0.30790 0.35676 None None None None None None None
View mm170241ct 13 rs1373744
dbSNP
110843985 4403.77 T C . 1/1 126 None None None 0.91613 0.91610 None None None None None None None
View mm170241ct 13 rs874203
dbSNP
110827574 232.77 T A . 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.31789 0.31790 0.33592 None None None None None None None
View mm170241ct 13 rs874204
dbSNP
110827580 216.77 C T . 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.31809 0.31810 0.33592 None None None None None None None
View mm170241ct 13 rs536174
dbSNP
110839550 1150.77 T G . 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None None
View mm170241ct 13 rs16975492
dbSNP
110833702 203.77 C T . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.30711 0.30710 0.32162 None None None None None None None
View mm170241ct 13 rs532625
dbSNP
110864225 754.77 A T . 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.47284 0.47280 0.43957 None None None None None None None

COL4A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs4771683
dbSNP
111156499 1105.77 C T . 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.93590 0.93590 0.05438 None None None None None None None
View mm170241ct 13 rs4103
dbSNP
111098226 636.77 C T . 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.48283 0.48280 0.48987 None None None None None None None
View mm170241ct 13 rs45520539
dbSNP
111156250 519.77 G A . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01438 0.01438 0.03095 0.31 None None None None None None None
View mm170241ct 13 rs438758
dbSNP
111155773 1037.77 T C . 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.98023 0.98020 0.01286 None None None None None None None
View mm170241ct 13 rs4238272
dbSNP
111077197 807.77 G A . 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.94269 0.94270 0.06729 None None None None None None None