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

TUBB4A,
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)

Genes at Clinical Genomics Database

TUBB4A,
TUBB4A Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 1

Export to: CSV

TUBB4A

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 dt39_s5 19 . 6501402 14.92 T C LowGQX 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.00 None None None None None None None
View dt39_s5 19 . 6501269 11.01 A G LowGQX 1/1 1 None None None None None None None None None 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 dt39_s5 22 . 38539427 5.92 C A LowGQX 0/1 2 None None None None None None None None None None
View dt39_s5 22 rs11570645
dbSNP
38539420 49.99 A G LowGQX 1/1 2 None None None 0.02915 0.02915 None None None None None None None
View dt39_s5 19 . 42482552 9.3 A G LowGQX 0/1 4 None None None None None None None None None None
View dt39_s5 19 . 42482489 5.92 G A LowGQX 0/1 2 None None None None None None None None None None
View dt39_s5 18 . 11689497 7.08 A C LowGQX 1/1 2 None None None None None None None None None None
View dt39_s5 11 rs17243259
dbSNP
26353951 127.19 G T LowGQX 1/1 4 None None None 0.23802 0.23800 None None None None None None None
View dt39_s5 11 . 2186847 9.3 T C LowGQX 0/1 4 None None None None None None None None None None
View dt39_s5 22 . 38539452 6.36 T C LowGQX 0/1 2 None None None None None None None None None None
View dt39_s5 9 rs57931082,rs397801608
dbSNP
130954645 128.76 C CA LowGQX 1/1 16 None None None None None None None None None None
View dt39_s5 22 rs117600608
dbSNP
38539436 50.05 A C LowGQX 1/1 2 None None None 0.00739 0.00739 None None None None None None None