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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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

SCORES

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

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CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

CD207, CREB3L1, DCC, KMT2B, NPRL3, OPLAH, PRKDC, RECQL4, SLC46A1,
CD207 [?Birbeck granule deficiency], 613393 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (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)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)

Genes at Clinical Genomics Database

CD207, CREB3L1, DCC, OPLAH, PRKDC, RECQL4, SLC46A1,
CD207 Birbeck granule deficiency
CREB3L1 Osteogenesis imperfecta, type XVI
DCC Mirror movements 1
OPLAH 5-oxoprolinase deficiency
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SLC46A1 Folate malabsorption, hereditary

Genes at HGMD

Summary

Number of Variants: 24
Number of Genes: 22

Export to: CSV
  • Page 1 of 1

ACY3

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 045_tsvc_variants 11 . 67412230 97.35 C CA PASS 0/1 161 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None ACY3|0.003638285|87.53%

ALDH3B1

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 045_tsvc_variants 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 596.66 G GC PASS 1/1 71 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%
View 045_tsvc_variants 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 2321.23 G GC PASS 1/1 255 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%

CD207

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 045_tsvc_variants 2 rs11450450,rs397692276
dbSNP Clinvar
71062833 1687.3 G GC PASS 1/1 181 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CLTCL1

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 045_tsvc_variants 22 rs11386977
dbSNP Clinvar
19189003 1592.75 A AC PASS 1/1 174 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

CREB3L1

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 045_tsvc_variants 11 rs79068197,rs386373762
dbSNP Clinvar
46342259 1042.27 A AG PASS 1/1 115 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00042 None None None None None None CREB3L1|0.229770101|33.39%

CXCL6

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 045_tsvc_variants 4 rs564244632
dbSNP Clinvar
74702809 504.89 G GT PASS 0/1 188 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00359 0.00359 0.00543 None None None None None None CXCL6|0.003101868|88.5%

CYP4B1

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 045_tsvc_variants 1 rs3215983
dbSNP Clinvar
47280746 309.73 GAT G PASS 0/1 96 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%

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 045_tsvc_variants 18 . 50832088 16.0 A AC PASS 0/1 6 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None DCC|0.980899041|1.44%

DIXDC1

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 045_tsvc_variants 11 rs11455434,rs376922505
dbSNP Clinvar
111853106 1233.99 G GC PASS 1/1 137 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00009 None None None None None None DIXDC1|0.324696755|25.81%

FAM228B

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 045_tsvc_variants 2 rs113322110,rs397822939
dbSNP Clinvar
24387178 889.95 G GC PASS 1/1 97 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.96206 0.96210 0.03057 None None None None None None FAM228B|0.030483261|69.18%

KMT2B

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 045_tsvc_variants 19 rs11373774,rs398034465
dbSNP Clinvar
36214632 389.72 A AG PASS 1/1 43 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00257 None None None None None None None

KRBA1

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 045_tsvc_variants 7 rs11424737
dbSNP Clinvar
149426305 2559.91 G GC PASS 1/1 301 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00112 None None None None None None KRBA1|0.003479568|87.8%

MAPK8IP2

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 045_tsvc_variants 22 rs140511
dbSNP Clinvar
51042513 769.59 C CG PASS 1/1 82 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00725 None None None None None None MAPK8IP2|0.058785144|60.2%

NPRL3

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 045_tsvc_variants 16 rs57321480
dbSNP Clinvar
138772 888.54 A AG PASS 1/1 99 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00016 None None None None None None NPRL3|0.194653902|37.31%

NUDT18

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 045_tsvc_variants 8 rs58343576,rs796630966
dbSNP Clinvar
21966707 65.42 CG C PASS 1/1 8 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00076 None None None None None None NUDT18|0.065277959|58.56%

OPLAH

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 045_tsvc_variants 8 rs60949781,rs796594277
dbSNP Clinvar
145106938 922.49 GCC G PASS 1/1 100 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00209 None None None None None None OPLAH|0.085381041|54.08%

PARP15

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 045_tsvc_variants 3 . 122354034 130.24 GAAA GA... PASS 1/2 22 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None PARP15|0.002154014|90.58%

PLEKHA2

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 045_tsvc_variants 8 rs5891050,rs398007544
dbSNP Clinvar
38827185 1205.77 GC G PASS 1/1 132 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00009 None None None None None None PLEKHA2|0.247298578|31.8%

PPP1R9B

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 045_tsvc_variants 17 rs10669851
dbSNP Clinvar
48227403 566.4 G GGC PASS 1/1 65 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.01407 None None None None None None PPP1R9B|0.085244344|54.11%
View 045_tsvc_variants 17 rs10669850
dbSNP Clinvar
48227384 614.96 G GGC PASS 1/1 65 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.02798 None None None None None None PPP1R9B|0.085244344|54.11%

PRKDC

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 045_tsvc_variants 8 rs11411516,rs397814002
dbSNP Clinvar
48805816 1520.66 A AG PASS 1/1 172 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00078 None None None None None None PRKDC|0.642781418|10.36%

RECQL4

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 045_tsvc_variants 8 rs11342077,rs398010167
dbSNP Clinvar
145738767 837.37 CG C PASS 1/1 93 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None RECQL4|0.005456729|85.27%

SLC46A1

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 045_tsvc_variants 17 rs5819844,rs561780114
dbSNP Clinvar
26727721 2126.1 GA G PASS 1/1 226 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00033 None None None None None None SARM1|0.349245398|24.19%,SLC46A1|0.07823181|55.6%
  • Page 1 of 1