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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

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CADD

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Genes at Omim

ATP5A1, DLC1, MRPS7,
ATP5A1 ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (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: 12
Number of Genes: 4

Export to: CSV
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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 mm171122md 18 rs56181324
dbSNP Clinvar
43678024 179.77 G A . 0/1 14 MOTIF[MA0095.1:Yy1] LOW None 0.23882 0.23880 None None None None None None ATP5A1|0.559577689|13.38%

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 mm171122md 14 rs2273946
dbSNP Clinvar
24458162 908.77 G C . 0/1 75 MOTIF[MA0095.1:Yy1] LOW None 0.67392 0.67390 0.48408 0.95 0.00 None None None None None None DHRS4L2|0.007168249|83.32%

DLC1

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 mm171122md 8 rs144792804
dbSNP Clinvar
13133881 1920.77 G T . 0/1 179 MOTIF[MA0095.1:Yy1] LOW None 0.02776 0.02776 0.51 0.00 None None None None None None DLC1|0.140256235|44.36%

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 mm171122md 17 rs8075276
dbSNP Clinvar
73257986 1590.77 C T . 0/1 117 MOTIF[MA0095.1:Yy1] LOW None 0.65735 0.65730 0.34005 0.00 0.01 None None None None None None GGA3|0.125773495|46.52%,MRPS7|0.30443526|27.34%
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 mm171122md 17 rs3785793
dbSNP Clinvar
6659324 1211.77 A G . 1/1 36 MOTIF[MA0095.1:Yy1] LOW None 0.60723 0.60720 0.46343 None None None None None None XAF1|0.002684279|89.28%
View mm171122md 17 rs4788868
dbSNP Clinvar
73127971 18.59 A T LowQual 1/1 2 MOTIF[MA0095.1:Yy1] MODIFIER None 0.99760 0.99760 None None None None None None None
View mm171122md 20 rs2072961
dbSNP Clinvar
1099666 695.77 G C . 0/1 32 MOTIF[MA0095.1:Yy1] LOW None 0.73003 0.73000 None None None None None None PSMF1|0.201334889|36.61%
View mm171122md 3 rs62234703
dbSNP Clinvar
31574258 64.77 A C . 0/1 8 MOTIF[MA0095.1:Yy1] MODIFIER None 0.20008 0.20010 None None None None None None STT3B|0.425372304|19.32%
View mm171122md 20 rs2261177
dbSNP Clinvar
25388186 140.77 G C . 0/1 9 MOTIF[MA0095.1:Yy1] MODIFIER None 0.84026 0.84030 None None None None None None None
View mm171122md 5 rs4072852
dbSNP Clinvar
77656300 138.77 G C . 0/1 7 MOTIF[MA0095.1:Yy1] LOW None 0.30591 0.30590 None None None None None None None
View mm171122md 15 rs4374117
dbSNP Clinvar
63340647 2036.77 A G . 1/1 62 MOTIF[MA0095.1:Yy1] LOW None 0.99361 0.99360 None None None None None None TPM1|0.978525529|1.5%
View mm171122md 16 rs42139
dbSNP Clinvar
21531609 2520.77 C T . 0/1 193 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
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