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GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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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
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Genes at Omim

ATP5A1,
ATP5A1 ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3)

Genes at Clinical Genomics Database

ATP5A1,
ATP5A1 Combined oxidative phosphorylation deficiency 22
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 3

Export to: CSV

ATP5A1

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 mm170241ct 18 rs56181324
dbSNP
43678024 136.77 G A . 0/1 8 MOTIF[MA0095.1:Yy1] LOW 0.23882 0.23880 None None None None None None None

DHRS4L2

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 mm170241ct 14 rs2273946
dbSNP
24458162 407.77 G C . 0/1 36 MOTIF[MA0095.1:Yy1] LOW 0.67392 0.67390 0.48408 0.95 0.00 None None None None None None None

MRPS7

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 mm170241ct 17 rs8075276
dbSNP
73257986 732.77 C T . 1/1 21 MOTIF[MA0095.1:Yy1] LOW 0.65735 0.65730 0.34005 0.00 1.00 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 mm170241ct 19 rs794085
dbSNP
7694602 1129.77 C G . 0/1 90 MOTIF[MA0095.1:Yy1] LOW 0.16174 0.16170 None None None None None None None
View mm170241ct 20 rs2072961
dbSNP
1099666 786.77 G C . 1/1 21 MOTIF[MA0095.1:Yy1] LOW 0.73003 0.73000 None None None None None None None
View mm170241ct 22 . 32340871 12.77 G A LowQual 1/1 1 MOTIF[MA0095.1:Yy1] LOW None None None None None None None
View mm170241ct 17 rs3785793
dbSNP
6659324 252.77 A G . 0/1 17 MOTIF[MA0095.1:Yy1] LOW 0.60723 0.60720 0.46343 None None None None None None None
View mm170241ct 16 rs42139
dbSNP
21531609 198.77 C T . 0/1 16 MOTIF[MA0095.1:Yy1] LOW None None None None None None None
View mm170241ct 15 rs4374117
dbSNP
63340647 638.77 A G . 1/1 22 MOTIF[MA0095.1:Yy1] LOW 0.99361 0.99360 None None None None None None None
View mm170241ct 20 rs2261177
dbSNP
25388186 153.9 G C . 1/1 5 MOTIF[MA0095.1:Yy1] MODIFIER 0.84026 0.84030 None None None None None None None