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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 INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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

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

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

Genes:
COL4A4, DOCK9, PXDN,

COL4A4, PXDN,

COL4A4	Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3)
PXDN	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)

COL4A4, PXDN,

COL4A4	Alport syndrome, autosomal recessive
PXDN	Corneal opacification with other ocular anomalies

Number of Variants: 3
Number of Genes: 3

Export to: CSV

COL4A4
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	12016_s26	2	rs2228556 dbSNP Clinvar	227892619	100.0	C	T	PASS	1/1	102	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.49181	0.49180	0.45464				None None	None None None None	COL4A4\|0.099677436\|51.24%
DOCK9
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	12016_s26	13	rs17709314 dbSNP Clinvar	99479139	100.0	T	C	PASS	0/1	50	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.04273	0.04273	0.08277				None None	None None None None	DOCK9\|0.3175759\|26.27%
PXDN
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	12016_s26	2	rs17841813 dbSNP Clinvar	1664654	100.0	A	G	PASS	1/1	76	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.81090	0.81090	0.28651				None None	None None None None	PXDN\|0.054174855\|61.43%

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