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READ DEPTH:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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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POLYPHEN2 SCORE

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CADD

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Genes at Omim

ATP5A1, MRPS7,
ATP5A1 ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (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: 13
Number of Genes: 3

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 lb9428 final 18 rs56181324
dbSNP Clinvar
43678024 6504.9 G A DP10 0/1 3 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 lb9428 final 14 rs2273946
dbSNP Clinvar
24458162 55107.37 G C PASS 1/1 17 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%

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 lb9428 final 17 rs8075276
dbSNP Clinvar
73257986 72665.92 C T PASS 0/1 15 MOTIF[MA0095.1:Yy1] LOW None 0.65735 0.65730 0.34005 0.00 1.00 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 lb9428 final 5 rs4072852
dbSNP Clinvar
77656300 2256.11 G C DP10;GQ30.00 1/1 2 MOTIF[MA0095.1:Yy1] LOW None 0.30591 0.30590 None None None None None None None
View lb9428 final 16 rs42139
dbSNP Clinvar
21531609 50333.33 C T PASS 0/1 30 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View lb9428 final 17 rs4788868
dbSNP Clinvar
73127971 3697.09 A T DP10;GQ30.00 1/1 1 MOTIF[MA0095.1:Yy1] MODIFIER None 0.99760 0.99760 None None None None None None None
View lb9428 final 21 rs12627014
dbSNP Clinvar
46707916 214.97 A G DP10 0/1 2 MOTIF[MA0095.1:Yy1] LOW None 0.09984 0.09984 None None None None None None None
View lb9428 final 2 rs764631696
dbSNP Clinvar
128615674 721.85 T TC... TruthSensitivityTranche99.90to100.00 0/1 14 MOTIF[MA0095.1:Yy1] LOW None 0.01439 None None None None None None POLR2D|0.538239901|14.27%
View lb9428 final 20 rs2072961
dbSNP Clinvar
1099666 48825.36 G C DP10;GQ30.00 1/1 8 MOTIF[MA0095.1:Yy1] LOW None 0.73003 0.73000 None None None None None None PSMF1|0.201334889|36.61%
View lb9428 final 20 rs2261177
dbSNP Clinvar
25388186 5139.1 G C DP10;GQ30.00 1/1 1 MOTIF[MA0095.1:Yy1] MODIFIER None 0.84026 0.84030 None None None None None None None
View lb9428 final 2 rs145033274
dbSNP Clinvar
232317115 223.11 G A DP10;GQ30.00 1/1 1 MOTIF[MA0095.1:Yy1] LOW None 0.10443 0.10440 None None None None None None None
View lb9428 final 6 rs60410089
dbSNP Clinvar
34725148 1394.16 A G DP10;GQ30.00 0/1 4 MOTIF[MA0095.1:Yy1] LOW None 0.11022 0.11020 None None None None None None None
View lb9428 final 17 rs3859189
dbSNP Clinvar
38137033 2431.67 A G DP10 0/1 2 MOTIF[MA0095.1:Yy1] LOW None 0.52536 0.52540 None None None None None None None
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