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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
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Genes at Omim

CD207, EMG1, NPRL3, OPLAH, PRKDC, RECQL4, SLC37A4, SLC46A1,
CD207 ?[Birbeck granule deficiency], 613393 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RECQL4 Rothmund-Thomson syndrome, 268400 (3)
RAPADILINO syndrome, 266280 (3)
Baller-Gerold syndrome, 218600 (3)
SLC37A4 Glycogen storage disease Ic, 232240 (3)
Glycogen storage disease Ib, 232220 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)

Genes at Clinical Genomics Database

CD207, CREB3L1, EMG1, OPLAH, PRKDC, RECQL4, SLC37A4, SLC46A1,
CD207 Birbeck granule deficiency
CREB3L1 Osteogenesis imperfecta, type XVI
EMG1 Bowen-Conradi syndrome
OPLAH 5-oxoprolinase deficiency
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
SLC37A4 Glycogen storage disease Id
Glycogen storage disease Ic
Glycogen storage disease Ib
SLC46A1 Folate malabsorption, hereditary

Genes at HGMD

Summary

Number of Variants: 40
Number of Genes: 36

Export to: CSV

ALDH3B1

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 11 rs11436139,rs58238184
dbSNP
67795378 1619.73 G GC . 1/1 43 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00424 None None None None None None None
View mm170241ct 11 rs58160034,rs397695802
dbSNP
67789293 1106.73 G GC . 1/1 29 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.00280 0.99720 0.00024 None None None None None None None

CD207

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 2 rs11450450,rs397692276
dbSNP
71062833 1913.73 G GC . 1/1 46 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00025 None None None None None None None

CLTCL1

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 22 rs11386977
dbSNP
19189003 1606.73 A AC . 1/1 40 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00051 None None None None None None None

CREB3L1

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 11 rs79068197,rs386373762
dbSNP
46342259 1874.73 A AG . 1/1 48 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00042 None None None None None None None

CTD-3193O13.9

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 rs58971992,rs398079707
dbSNP
7938306 766.73 A AG . 1/1 20 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99960 0.99960 None None None None None None None

CYFIP2

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 5 rs5872508,rs397781034,rs397712438
dbSNP
156721863 2027.73 T TC . 1/1 56 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00203 None None None None None None None

DIXDC1

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 11 rs11455434,rs376922505
dbSNP
111853106 2270.73 G GC . 1/1 59 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00009 None None None None None None None

EI24

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 11 rs55912941,rs397812741
dbSNP
125452300 3398.73 A AC . 1/1 93 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00194 None None None None None None None

EMG1

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 12 rs17857448
dbSNP
7080212 1048.29 T C,G . 1/2 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00052 None None None None None None None
View mm170241ct 12 rs11428482
dbSNP
7080212 1719.73 T TC . 1/1 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00052 None None None None None None None

FAM228B

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 2 rs113322110,rs397822939
dbSNP
24387178 1659.73 G GC . 1/1 42 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.96206 0.96210 0.03057 None None None None None None None

KMT2B

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 rs11373774,rs398034465
dbSNP
36214632 326.74 A AG . 1/1 9 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00257 None None None None None None None

KRBA1

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 7 rs11424737
dbSNP
149426305 450.73 G GC . 1/1 12 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00112 None None None None None None None

MAL2

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 8 rs71302978,rs398009582
dbSNP
120220775 516.73 CG C . 1/1 15 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00577 None None None None None None None

MAPK8IP2

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 22 rs140511
dbSNP
51042513 1143.73 C CG . 1/1 28 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00725 None None None None None None None

NEK3

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 13 rs3837575,rs72514762,rs397805362
dbSNP
52718050 3356.73 C CT . 0/1 240 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.48802 0.48800 0.47178 None None None None None None None

NPRL3

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 16 rs57321480
dbSNP
138772 811.73 A AG . 1/1 20 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00016 None None None None None None None

NUDT18

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 8 rs58343576,rs796630966
dbSNP
21966707 396.73 CG C . 1/1 11 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00076 None None None None None None None

OPLAH

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 8 rs60949781,rs796594277
dbSNP
145106938 1798.73 GCC G . 1/1 38 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00209 None None None None None None None

PCSK6

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 15 rs199543153
dbSNP
102029685 412.74 G GGC . 1/1 12 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99301 0.99300 0.02314 None None None None None None None

PIK3R6

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 rs56322041,rs869211942,rs397775164
dbSNP
8725214 1942.73 A AG . 1/1 51 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99960 0.99960 0.00119 None None None None None None None

PLCD3

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 rs35911033
dbSNP
43192549 555.73 T TC . 1/1 14 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00167 None None None None None None None

PLEKHA2

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 8 rs5891050,rs869140547,rs398007544
dbSNP
38827185 1405.73 GC G . 1/1 35 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00009 None None None None None None None

POLDIP2

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 rs11448856,rs67934205
dbSNP
26684390 273.74 G GC . 1/1 9 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.01501 None None None None None None None

PPP1R9B

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 rs10669850
dbSNP
48227384 1383.73 G GGC . 1/1 26 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.02798 None None None None None None None
View mm170241ct 17 rs10669851
dbSNP
48227403 1126.73 G GGC . 1/1 22 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.01407 None None None None None None None

PRB3

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 12 rs3842295
dbSNP
11420333 531.73 AG A . 1/1 14 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.82408 0.82410 0.10774 None None None None None None None

PRKDC

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 8 rs11411516,rs397814002
dbSNP
48805816 1634.73 A AG . 1/1 40 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00078 None None None None None None None

RECQL4

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 8 rs11342077,rs398010167
dbSNP
145738767 1870.73 CG C . 1/1 45 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 None None None None None None None

SCAMP1

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 5 rs66744502
dbSNP
77745853 2277.73 C CA . 1/1 57 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00071 None None None None None None None

SENP3

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 rs58837213,rs398030265
dbSNP
7470285 4161.73 CA C . 1/1 107 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None

SLC37A4

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 11 rs56966114,rs869034262,rs547203028
dbSNP
118898435 1601.73 AC A . 1/1 42 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 None None None None None None None

SLC46A1

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 rs869128165,rs5819844,rs561780114
dbSNP
26727721 768.73 GA G . 1/1 19 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00033 None None None None None None None

TEX13A

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 X rs56118606,rs367644904
dbSNP
104464281 1617.73 TC T . 1/1 45 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None
View mm170241ct X rs868974583,rs375033944
dbSNP
104464276 1830.73 CA C . 1/1 44 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 None None None None None None None

TRAJ36

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 rs11324184,rs796246799,rs869032696
dbSNP
22974150 5220.73 TC T . 1/1 137 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 None None None None None None None

UPP2

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 2 rs11368509
dbSNP
158958551 2058.73 G GA . 0/1 107 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.14896 0.14900 0.10535 None None None None None None None

VSIG10L

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 rs11402251,rs397723022
dbSNP
51835892 2845.73 T TG . 1/1 69 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00207 None None None None None None None

ZNF598

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 16 rs11366527
dbSNP
2059621 356.74 GC G . 1/1 13 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00146 None None None None None None None