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 GROUPS:

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MUTATION TYPE:
 CHR:

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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+ Genes 1

Genes:
COL4A6,

+ Genes associated with diseases 1

Genes at Omim

COL4A6,
COL4A6 ?Deafness, X-linked 6, 300914 (3)

Genes at Clinical Genomics Database

COL4A6,
COL4A6 Deafness, X-linked, with cochlear malformation

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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COL4A6
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 042_tsvc_variants X rs4623610
dbSNP Clinvar 		107418906 266.74 A G PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
View 042_tsvc_variants X rs1042065
dbSNP Clinvar 		107433688 1017.9 A G PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 1.00 0.00 None None None None None None COL4A6|0.130757642|45.78%
View 042_tsvc_variants X rs1266719
dbSNP Clinvar 		107437848 406.78 G C PASS 1/1 50 None None None 0.44980 0.44980 0.36476 0.95 0.00 None None None None None None COL4A6|0.130757642|45.78%
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