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CLINICAL GENOMICS DATABASE:
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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
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

AHCY, EEF1A2, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
EEF1A2 Mental retardation, autosomal dominant 38, 616393 (3)
Epileptic encephalopathy, early infantile, 33, 616409 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
KCNQ2 Seizures, benign neonatal, 1, 121200 (3)
Myokymia, 121200 (3)
Epileptic encephalopathy, early infantile, 7, 613720 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)

Genes at Clinical Genomics Database

AHCY, EEF1A2, FERMT1, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
FERMT1 Kindler syndrome
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
NOP56 Spinocerebellar ataxia 36
PRPF6 Retinitis pigmentosa 60
SNTA1 Long QT syndrome 12
TBC1D20 Warburg micro syndrome 4

Genes at HGMD

Summary

Number of Variants: 2943
Number of Genes: 45

Export to: CSV
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 23 recalibrated filtered postcgp gqfiltered 20 . 44715260 1733.74 TG... TG... PASS 3/3 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23635182 10440.38 TC... TC... PASS 2/3 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57514813 23324.48 GTT G,... PASS 2/2 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715258 1224.06 TGTGA T,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58723979 4411.77 A T,* PASS 2/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644280 6841.36 A T,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58723978 4411.77 G T,* PASS 2/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715256 1124.29 TG... T,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57514815 20134.29 T G,* PASS 2/2 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644282 1917.45 A T,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58723983 4639.25 A G,* PASS 2/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57497007 231.15 ATTTT AT... PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 159274 2613.11 T TA... PASS 1/2 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10641432 58154.04 CA C,CAA PASS 1/2 80 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 21161813 18622.49 A C,AC PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64255723 1015.88 A AG... PASS 1/2 19 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715264 2128.12 C T,* PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715262 2013.04 A T,* PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18569204 289.35 CTT C,... PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62284374 1861.07 ATT A,AT PASS 1/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45536251 1339.41 GAA G,... PASS 1/2 54 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23421267 3252.28 ACCCC AC... PASS 1/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37179387 5536.31 G GC... PASS 1/2 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42677848 85945.81 G GA... PASS 1/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63999955 41.44 CT C,... PASS 1/2 2 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58470349 1710.46 T A,G PASS 1/2 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62672214 6079.1 T C PASS 1/1 119 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51674115 58271.08 T C PASS 1/1 68 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51671386 19567.04 A G PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13888099 41822.81 T C PASS 1/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51671251 84806.08 A G PASS 1/1 101 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13866774 246336.9 A G PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63249944 34552.24 A G PASS 1/1 88 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13865341 299837.9 C T PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13801763 46175.87 A G PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63569222 43650.67 T C PASS 1/1 47 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63248922 18897.44 A G PASS 1/1 48 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43579882 52381.9 T G PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 61718863 6188.16 C A PASS 1/1 144 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 61570616 2027.44 T G PASS 1/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51669945 28431.46 T TA PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13783250 20883.58 C CATTA PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64067131 3000.71 G A PASS 1/1 29 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13766794 127342.06 A G PASS 1/1 20 None None None -0.52 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43571285 15694.54 G A PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51639568 50570.3 T C PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13717359 327793.89 T C PASS 1/1 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64066835 6393.09 G A PASS 1/1 28 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51639223 71707.08 T C PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43540565 5845.56 G A PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60700706 1716.62 T G PASS 1/1 21 None None None None None None None None None None

PRPF6

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 23 recalibrated filtered postcgp gqfiltered 20 . 62642642 208.82 A G PASS 1/1 3 SYNONYMOUS_CODING LOW 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 23 recalibrated filtered postcgp gqfiltered 20 . 60308674 6737.78 T C PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43460871 147691.18 T C PASS 1/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43189649 702.56 C G PASS 1/1 10 None None None 3.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13166779 3135.66 G C PASS 1/1 76 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42886050 396.04 C CAT,T PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308672 6737.81 T C PASS 1/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs143170997
dbSNP
13093588 130368.4 G A PASS 1/1 52 None None None 0.00300 0.00300 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42756295 13.68 T G PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308617 8047.61 C T PASS 1/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308547 11117.27 T G PASS 1/1 97 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42234542 922.59 C A PASS 1/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42199632 3126.66 A G PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308476 25802.64 T C PASS 1/1 107 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308458 23905.64 A G PASS 1/1 113 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 60308341 4964.97 A AT PASS 1/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13049272 41566.6 C G PASS 1/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13049214 80605.9 C T PASS 1/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51627559 133035.99 T C PASS 1/1 86 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13049116 214998.9 A C PASS 1/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62642226 3348.12 C T PASS 1/1 120 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13009396 75868.49 T C PASS 1/1 67 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62570869 6224.04 A G PASS 1/1 113 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 11926637 4238.19 A C PASS 1/1 120 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63694757 36972.93 A C PASS 1/1 72 MODIFIER -0.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42072816 2043.48 G A PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62570425 15989.37 G GT... PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63967462 73177.32 C T PASS 1/1 115 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63567309 29840.54 A G PASS 1/1 100 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 11810360 2485.16 C T PASS 1/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 11810237 1554.5 C CTT PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63566995 107955.67 C T PASS 1/1 182 MODIFIER -2.05 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62564893 4963.3 G A PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51398570 15955.08 TAA TA,T PASS 1/1 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51391469 21886.32 A AG PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51386779 771.72 G A PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10652665 40942.72 T C PASS 1/1 77 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63244145 8242.69 A C PASS 1/1 39 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63966341 299619.27 T G PASS 1/1 243 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644276 14169.29 TC... TC... PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10643542 1673.24 A G PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51004862 5622.81 G C PASS 1/1 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10639738 145331.07 A G PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51004612 8725.71 T C PASS 1/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51004246 94896.95 G T PASS 1/1 141 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63241687 4249.42 T C PASS 1/1 117 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51003582 735.88 C G PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63241553 6568.71 A G PASS 1/1 183 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10296804 26390.56 A C PASS 1/1 11 None None None None None None None None None None