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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 5

+ Genes associated with diseases 2

Genes at Omim

DNAH11, HYDIN,
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)

Genes at Clinical Genomics Database

DNAH11,
DNAH11 Ciliary dyskinesia, primary, 7

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 5

Export to: CSV
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C1orf222
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 20159-01-01_s13-kopie 1 rs578234038
dbSNP Clinvar 		1855221 20145.27 A AAG PASS 0/1 953 FRAME_SHIFT HIGH 0.00080 None None None None None None CFAP74|0.001720148|91.8%

DNAH11
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 20159-01-01_s13-kopie 7 rs2285943
dbSNP Clinvar 		21582963 10129.12 G T PASS 0/1 872 STOP_GAINED HIGH NONSENSE 0.41194 0.41190 0.42685 None None None None None None DNAH11|0.38215847|21.9%

HYDIN
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 20159-01-01_s13-kopie 16 rs11337008,rs57797337
dbSNP Clinvar 		70896015 29538.43 GA G PASS 0/1 1774 FRAME_SHIFT HIGH None None None None None None HYDIN|0.080749251|55.02%

NAT14
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 20159-01-01_s13-kopie 19 . 55998308 49172.71 CA... C PASS 0/1 801 STOP_LOST+CODON_DELETION HIGH None None None None None None NAT14|0.003863588|87.21%

RP11-156E8.1
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 20159-01-01_s13-kopie 1 rs145835471,rs78699431
dbSNP Clinvar 		245133623 25739.09 T TC... PASS 1/1 338 FRAME_SHIFT HIGH 0.49720 0.49720 None None None None None None EFCAB2|0.09874582|51.4%
View 20159-01-01_s13-kopie 1 rs10536649
dbSNP Clinvar 		245133549 7981.47 GGC G PASS 1/1 207 FRAME_SHIFT HIGH 0.48203 0.48200 None None None None None None EFCAB2|0.09874582|51.4%
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