SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

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

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

NHLRC1,
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)

Genes at Clinical Genomics Database

NHLRC1,
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

NHLRC1

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 c005_attactcg-cctatcct srt mkdups flt 6 . 18122275 225.0 G A . 0/1 0 SYNONYMOUS_CODING LOW None 2.42 None None rs10949483 2 not_specified 2 None
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 c005_attactcg-cctatcct srt mkdups flt 1 . 225419442 222.0 C T . 1/1 0 None None None -1.67 None None rs2230419 2 not_specified 1 DNAH14|0.006049116|84.53%
View c005_attactcg-cctatcct srt mkdups flt 8 . 18069818 225.0 T C . 0/1 0 None None None -3.23 None None rs1049874 2 not_specified 2 NAT1|0.059951478|59.87%
View c005_attactcg-cctatcct srt mkdups flt 9 . 120408455 222.0 C G . 1/1 0 None None None 1.27 None None rs4837768 2 Primary_autosomal_recessive_microcephaly_3 0 None
View c005_attactcg-cctatcct srt mkdups flt 9 . 120528758 222.0 C G . 1/1 0 None None None 2.31 None None rs4836822 2 Primary_autosomal_recessive_microcephaly_3 0 None
View c005_attactcg-cctatcct srt mkdups flt 19 . 36099427 225.0 T C . 0/1 0 None None None -0.14 None None rs2285745 2 not_specified 2 None
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