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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 42

+ Genes associated with diseases 16

Genes at Omim

CCDC65, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DNAJB13, DRC1, HYDIN, LRRC6, NME8, RPGR, RSPH1, RSPH4A, SPAG1,
CCDC65 Ciliary dyskinesia, primary, 27, 615504 (3)
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DRC1 Ciliary dyskinesia, primary, 21, 615294 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
RPGR Cone-rod dystrophy, X-linked, 1, 304020 (3)
Macular degeneration, X-linked atrophic, 300834 (3)
Retinitis pigmentosa 3, 300029 (3)
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
RSPH4A Ciliary dyskinesia, primary, 11, 612649 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)

Genes at Clinical Genomics Database

CCDC65, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI2, DYX1C1, LRRC6, NME8, RPGR, RSPH1, RSPH4A,
CCDC65 Ciliary dyskinesia, primary, 27
DNAAF1 Ciliary dyskinesia, primary, 13
DNAAF2 Ciliary dyskinesia, primary, 10
DNAH11 Ciliary dyskinesia, primary, 7
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI2 Ciliary dyskinesia, primary, 9
DYX1C1 Ciliary dyskinesia, primary 25
LRRC6 Ciliary dyskinesia, primary 19
NME8 Ciliary dyskinesia, primary, 6
RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
RSPH1 Ciliary dyskinesia, primary, 24
RSPH4A Ciliary dyskinesia, primary, 11

Genes at HGMD

Summary

Number of Variants: 124
Number of Genes: 42

Export to: CSV

C1orf222
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 20167-01-01_s21-kopie 1 rs2803336
dbSNP Clinvar 		1875858 2703.58 C G PASS 0/1 296 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38498 0.38500 0.04 0.99 None None None None None None CFAP74|0.001720148|91.8%
View 20167-01-01_s21-kopie 1 rs2803327
dbSNP Clinvar 		1873525 3492.12 T C PASS 0/1 299 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59245 0.59250 0.49 0.00 None None None None None None CFAP74|0.001720148|91.8%
View 20167-01-01_s21-kopie 1 rs2803295
dbSNP Clinvar 		1861582 4086.79 C T PASS 0/1 391 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35583 0.35580 0.00 0.99 None None None None None None CFAP74|0.001720148|91.8%

C7orf63
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 20167-01-01_s21-kopie 7 rs7803620
dbSNP Clinvar 		89938588 459.35 C G LowDP 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92213 0.92210 0.14475 1.00 0.00 None None None None None None CFAP69|0.131174602|45.73%

CCDC135
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 20167-01-01_s21-kopie 16 rs2923144
dbSNP Clinvar 		57758732 781.57 C A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08986 0.08986 0.12061 0.06 0.98 None None None None None None DRC7|0.042533795|64.93%

CCDC65
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 20167-01-01_s21-kopie 12 rs10747556
dbSNP Clinvar 		49308284 2783.44 A G PASS 0/1 354 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30990 0.30990 0.30747 0.53 0.00 None None None None None None CCDC65|0.09413439|52.33%
View 20167-01-01_s21-kopie 12 rs4760600
dbSNP Clinvar 		49314994 3216.93 A G PASS 0/1 277 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30811 0.30810 0.30617 0.00 1.00 None None None None None None CCDC65|0.09413439|52.33%

CXorf22
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 20167-01-01_s21-kopie X rs2336029
dbSNP Clinvar 		35969297 3881.7 G A PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18782 0.18780 0.10065 0.00 0.99 None None None None None None CFAP47|0.008493492|82.15%

CXorf30
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 20167-01-01_s21-kopie X rs41309695
dbSNP Clinvar 		36371719 3823.58 T A PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17907 0.17910 0.07889 0.75 0.00 None None None None None None None
View 20167-01-01_s21-kopie X rs6527569
dbSNP Clinvar 		36403036 3978.08 A G PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39152 0.39150 0.33056 1.00 0.00 None None None None None None None

DCDC1
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 20167-01-01_s21-kopie 11 rs158633
dbSNP Clinvar 		30974115 2506.7 C A PASS 1/1 99 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11302 0.11300 0.08712 0.02 1.00 None None None None None None DCDC1|0.277336592|29.32%
View 20167-01-01_s21-kopie 11 rs2616812
dbSNP Clinvar 		31263112 2606.22 A G PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76418 0.76420 1.00 0.00 None None None None None None DCDC1|0.277336592|29.32%

DNAAF1
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 20167-01-01_s21-kopie 16 rs2288020
dbSNP Clinvar 		84209738 2177.29 T C PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26737 0.26740 0.27254 0.52 0.03 None None None None None None DNAAF1|0.000486573|98.51%
View 20167-01-01_s21-kopie 16 rs2288022
dbSNP Clinvar 		84209816 1821.08 T C PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26737 0.26740 0.26900 0.36 0.00 None None None None None None DNAAF1|0.000486573|98.51%
View 20167-01-01_s21-kopie 16 rs2288021
dbSNP Clinvar 		84209815 2094.19 C G PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13139 0.13140 0.15923 0.16 0.04 None None None None None None DNAAF1|0.000486573|98.51%
View 20167-01-01_s21-kopie 16 rs17856705
dbSNP Clinvar 		84203612 1383.27 A G PASS 0/1 229 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32109 0.32110 0.37875 0.18 0.00 None None None None None None DNAAF1|0.000486573|98.51%
View 20167-01-01_s21-kopie 16 rs2288023
dbSNP Clinvar 		84209864 2200.56 G C PASS 0/1 199 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26757 0.26760 0.27331 0.12 0.01 None None None None None None DNAAF1|0.000486573|98.51%
View 20167-01-01_s21-kopie 16 rs11644164
dbSNP Clinvar 		84203939 928.26 C T PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28055 0.28060 0.29903 0.35 0.00 None None None None None None DNAAF1|0.000486573|98.51%

DNAAF2
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 20167-01-01_s21-kopie 14 rs2985684
dbSNP Clinvar 		50101682 11453.02 C G PASS 1/1 444 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49321 0.49320 0.28662 0.07 0.57 None None None None None None DNAAF2|0.034155944|67.73%
View 20167-01-01_s21-kopie 14 rs9989177
dbSNP Clinvar 		50092471 1818.47 T C PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30871 0.30870 0.42073 0.08 0.08 None None None None None None DNAAF2|0.034155944|67.73%

DNAAF3
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 20167-01-01_s21-kopie 19 rs890872
dbSNP Clinvar 		55671337 7319.99 C T PASS 1/1 288 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.69 0.00 None None None None None None DNAAF3|0.005278927|85.46%
View 20167-01-01_s21-kopie 19 rs2365725
dbSNP Clinvar 		55672470 4222.23 T C PASS 0/1 385 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22764 0.22760 0.20211 0.01 0.23 None None None None None None DNAAF3|0.005278927|85.46%

DNAH11
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 20167-01-01_s21-kopie 7 rs2214326
dbSNP Clinvar 		21856151 1123.11 G A PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48423 0.48420 0.34773 0.77 0.00 None None None None None None DNAH11|0.38215847|21.9%
View 20167-01-01_s21-kopie 7 rs4722064
dbSNP Clinvar 		21893993 615.36 G T PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45947 0.45950 0.40101 0.02 0.28 None None None None None None DNAH11|0.38215847|21.9%
View 20167-01-01_s21-kopie 7 rs10224537
dbSNP Clinvar 		21640405 2785.12 A G PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76777 0.76780 0.18471 0.55 0.00 None None None None None None DNAH11|0.38215847|21.9%
View 20167-01-01_s21-kopie 7 rs10269582
dbSNP Clinvar 		21640361 2571.38 T C PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22045 0.22040 0.35193 0.86 0.22 None None None None None None DNAH11|0.38215847|21.9%
View 20167-01-01_s21-kopie 7 rs6461613
dbSNP Clinvar 		21924014 738.39 A G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62240 0.62240 0.28325 0.19 0.01 None None None None None None DNAH11|0.38215847|21.9%
View 20167-01-01_s21-kopie 7 rs9639393
dbSNP Clinvar 		21779278 527.57 A G PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37280 0.37280 0.46862 0.06 0.08 None None None None None None DNAH11|0.38215847|21.9%

DNAH5
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 20167-01-01_s21-kopie 5 rs339445
dbSNP Clinvar 		13944512 909.34 A C PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91294 0.91290 0.07443 1.00 0.00 None None None None None None DNAH5|0.235040337|32.91%
View 20167-01-01_s21-kopie 5 rs115004914
dbSNP Clinvar 		13900321 1180.07 G T PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00799 0.00799 0.00415 1.00 0.00 None None None None None None DNAH5|0.235040337|32.91%
View 20167-01-01_s21-kopie 5 rs4701997
dbSNP Clinvar 		13894894 974.53 T A PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48782 0.48780 0.48355 0.10 0.03 None None None None None None DNAH5|0.235040337|32.91%
View 20167-01-01_s21-kopie 5 rs10078391
dbSNP Clinvar 		13811775 2326.6 T C PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26218 0.26220 0.20368 0.01 0.19 None None None None None None DNAH5|0.235040337|32.91%
View 20167-01-01_s21-kopie 5 rs10513155
dbSNP Clinvar 		13788886 828.91 C A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20867 0.20870 0.24612 0.51 0.00 None None None None None None DNAH5|0.235040337|32.91%
View 20167-01-01_s21-kopie 5 rs17263496
dbSNP Clinvar 		13737444 1076.06 G A PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06569 0.06569 0.09434 0.00 0.99 None None None None None None DNAH5|0.235040337|32.91%
View 20167-01-01_s21-kopie 5 rs3734110
dbSNP Clinvar 		13701536 328.28 T C SB 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50359 0.50360 0.46571 0.22 0.00 None None None None None None DNAH5|0.235040337|32.91%
View 20167-01-01_s21-kopie 5 rs1530498
dbSNP Clinvar 		13902220 626.72 T C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38838 0.38840 0.33200 0.56 0.02 None None None None None None DNAH5|0.235040337|32.91%

DNAH9
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 20167-01-01_s21-kopie 17 rs9892256
dbSNP Clinvar 		11523082 3371.93 A G PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99022 0.99020 0.00823 1.00 0.00 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs17612861
dbSNP Clinvar 		11835331 1965.32 G A PASS 0/1 189 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.21006 0.21010 0.24958 0.07 0.25 None None None None None None DNAH9|0.176098085|39.51%

DNAI2
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 20167-01-01_s21-kopie 17 rs1979370
dbSNP Clinvar 		72308319 6748.92 G A PASS 1/1 262 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74082 0.74080 0.22974 0.29 0.00 None None None None None None DNAI2|0.045144108|64.18%

DNAJB13
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 20167-01-01_s21-kopie 11 rs72982975
dbSNP Clinvar 		73681135 1773.03 G A PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22344 0.22340 0.23972 0.46 0.02 None None None None None None DNAJB13|0.167244914|40.62%

DNALI1
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 20167-01-01_s21-kopie 1 rs140783025
dbSNP Clinvar 		38022581 6939.06 A G PASS 1/1 245 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00015 0.06 0.00 None None None None None None DNALI1|0.256307067|31.03%
View 20167-01-01_s21-kopie 1 rs11749
dbSNP Clinvar 		38023316 2096.61 C T PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20427 0.20430 0.20283 0.05 0.01 None None None None None None DNALI1|0.256307067|31.03%

DRC1
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 20167-01-01_s21-kopie 2 rs939820
dbSNP Clinvar 		26667615 3516.19 T C PASS 1/1 134 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99920 0.99920 0.00200 1.00 0.00 None None None None None None DRC1|0.021378182|73.5%

DYX1C1
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 20167-01-01_s21-kopie 15 rs600753
dbSNP Clinvar 		55759193 858.72 T C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52836 0.52840 0.45149 0.03 0.02 None None None None None None DYX1C1|0.073770721|56.56%
View 20167-01-01_s21-kopie 15 rs77641439
dbSNP Clinvar 		55722872 1546.47 G C PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10383 0.10380 0.08719 0.00 1.00 None None None None None None DYX1C1|0.073770721|56.56%

FBXL13
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 20167-01-01_s21-kopie 7 rs7805950
dbSNP Clinvar 		102668001 2003.18 A C PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96625 0.96630 0.02968 0.27 0.00 None None None None None None FBXL13|0.013552601|78.17%

HEATR2
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 20167-01-01_s21-kopie 7 rs3922641
dbSNP Clinvar 		814788 1459.05 G A PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66873 0.66870 0.37306 1.00 0.00 None None None None None None DNAAF5|0.006014089|84.58%
View 20167-01-01_s21-kopie 7 . 766758 9.28 C A LowGQX;LowDP 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31 0.92 None None None None None None PRKAR1B|0.067430622|58.06%,DNAAF5|0.006014089|84.58%

HYDIN
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 20167-01-01_s21-kopie 16 rs1626593
dbSNP Clinvar 		70896033 1939.88 C T PASS 0/1 445 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.94 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs7192347
dbSNP Clinvar 		70896122 3023.0 A C PASS 0/1 350 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.02 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798325
dbSNP Clinvar 		70897039 8011.26 C G PASS 0/1 522 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798413
dbSNP Clinvar 		70902559 4022.5 C T PASS 0/1 316 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.02 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774504
dbSNP Clinvar 		70902568 4275.68 C T PASS 0/1 316 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33 0.02 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774331
dbSNP Clinvar 		70917855 5422.26 A G PASS 0/1 449 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798440
dbSNP Clinvar 		70917931 4817.58 C G PASS 0/1 395 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774423
dbSNP Clinvar 		70926334 991.64 G C LowVariantFreq 0/1 316 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774449
dbSNP Clinvar 		70942688 7897.05 A C PASS 0/1 514 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798314
dbSNP Clinvar 		70884524 3161.87 C G PASS 0/1 309 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.26 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs11075798
dbSNP Clinvar 		70894024 974.74 C T LowVariantFreq 0/1 299 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.26 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1539302
dbSNP Clinvar 		70894087 1357.22 T C PASS 0/1 217 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs783762
dbSNP Clinvar 		71007809 1090.56 C T PASS 0/1 240 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.08 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774303
dbSNP Clinvar 		71012855 3442.34 T C PASS 0/1 394 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00619 0.00619 0.34 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774513
dbSNP Clinvar 		71026076 1913.95 C G PASS 0/1 230 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs6416709
dbSNP Clinvar 		71054178 818.68 T C PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.07 0.01 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs3817211
dbSNP Clinvar 		71098649 2684.82 T C PASS 0/1 284 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs10744982
dbSNP Clinvar 		71101200 1085.18 T C PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.92 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs62040318
dbSNP Clinvar 		71122408 332.07 C T LowVariantFreq 0/1 258 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs577066918
dbSNP Clinvar 		71127770 227.59 C T LowVariantFreq 0/1 191 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.00060 0.01 0.39 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774395
dbSNP Clinvar 		70954513 2736.43 T C PASS 0/1 350 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.02 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs8044001
dbSNP Clinvar 		70954571 3279.06 C T PASS 0/1 402 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs8044142
dbSNP Clinvar 		70954606 4643.64 C T PASS 0/1 465 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.96 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798528
dbSNP Clinvar 		70954691 2283.12 T C PASS 0/1 482 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.36 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs67115747,rs375727122
dbSNP Clinvar 		70954703 26553.05 GG... G PASS 0/1 473 CODON_DELETION MODERATE None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798529
dbSNP Clinvar 		70954774 4452.93 A G PASS 0/1 432 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798531
dbSNP Clinvar 		70954915 9612.68 G T PASS 1/1 355 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99900 0.99900 0.00627 1.00 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798532
dbSNP Clinvar 		70954945 3681.91 T A PASS 0/1 367 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs2502726
dbSNP Clinvar 		70972595 4985.33 T C PASS 0/1 562 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45387 0.45390 0.00 1.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774360
dbSNP Clinvar 		70972620 7167.17 G C PASS 0/1 520 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 1.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1815707
dbSNP Clinvar 		70975565 2094.51 T C PASS 0/1 291 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs2258307
dbSNP Clinvar 		70975667 5465.19 T C PASS 0/1 387 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1798337
dbSNP Clinvar 		70989299 1733.43 C T PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87 0.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774541
dbSNP Clinvar 		70989335 2459.62 G A PASS 0/1 261 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00 1.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs200979879
dbSNP Clinvar 		70993639 913.73 C T LowVariantFreq 0/1 300 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None HYDIN|0.080749251|55.02%

IQGAP3
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 20167-01-01_s21-kopie 1 rs2488269
dbSNP Clinvar 		156526444 3148.67 T C PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96006 0.96010 0.04244 1.00 0.00 None None None None None None IQGAP3|0.099380714|51.29%
View 20167-01-01_s21-kopie 1 rs11264498
dbSNP Clinvar 		156526387 1584.96 C G PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37820 0.37820 0.49754 0.04 0.97 None None None None None None IQGAP3|0.099380714|51.29%

KIF27
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 20167-01-01_s21-kopie 9 rs13289566
dbSNP Clinvar 		86504005 2353.34 C T PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17472 0.17470 0.22850 1.00 0.00 None None None None None None KIF27|0.224927023|33.89%

LRGUK
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 20167-01-01_s21-kopie 7 rs17167553
dbSNP Clinvar 		133848257 2169.82 G T PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17752 0.17750 0.12548 0.05 0.33 None None None None None None LRGUK|0.024956796|71.82%
View 20167-01-01_s21-kopie 7 rs35149449
dbSNP Clinvar 		133906669 273.05 C T PASS 0/1 62 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.13399 0.13400 0.06920 1.00 0.00 None None None None None None LRGUK|0.024956796|71.82%
View 20167-01-01_s21-kopie 7 rs542059624
dbSNP Clinvar 		133863286 2854.36 C G PASS 0/1 293 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.04 0.46 None None None None None None LRGUK|0.024956796|71.82%

LRRC48
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 20167-01-01_s21-kopie 17 rs4584886
dbSNP Clinvar 		17896205 377.33 C T PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58207 0.58210 0.35099 0.00 0.96 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20167-01-01_s21-kopie 17 rs11656629
dbSNP Clinvar 		17907768 4123.77 C T PASS 0/1 382 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01697 0.01697 0.02684 0.52 0.00 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%

LRRC6
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 20167-01-01_s21-kopie 8 rs9297853
dbSNP Clinvar 		133584558 1605.45 A G PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14397 0.14400 0.16369 0.00 0.71 None None None None None None LRRC6|0.037895735|66.48%
View 20167-01-01_s21-kopie 8 rs2293979
dbSNP Clinvar 		133637659 3445.6 G A PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48622 0.48620 0.44180 0.21 0.00 None None None None None None LRRC6|0.037895735|66.48%

MNS1
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 20167-01-01_s21-kopie 15 rs1715919
dbSNP Clinvar 		56756285 3557.87 T G PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05351 0.05351 0.08115 0.00 0.03 None None None None None None MNS1|0.063037216|59.09%

NME8
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 20167-01-01_s21-kopie 7 rs10250905
dbSNP Clinvar 		37907304 1952.79 T C PASS 1/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.74341 0.74340 0.21290 0.00 0.00 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%

PCDP1
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 20167-01-01_s21-kopie 2 rs2272058
dbSNP Clinvar 		120388412 3184.02 G A PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97624 0.97620 0.02276 0.64 0.00 None None None None None None None
View 20167-01-01_s21-kopie 2 rs2579624
dbSNP Clinvar 		120303820 1254.15 A T PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59086 0.59090 0.21 0.50 None None None None None None None

PIH1D1
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 20167-01-01_s21-kopie 19 rs2293013
dbSNP Clinvar 		49954803 8401.12 C T PASS 1/1 304 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60883 0.60880 0.28448 1.00 0.00 None None None None None None PIH1D1|0.036643548|66.93%
View 20167-01-01_s21-kopie 19 rs13394
dbSNP Clinvar 		49950298 2881.86 C T PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68890 0.68890 0.19022 1.00 0.00 None None None None None None PIH1D1|0.036643548|66.93%
View 20167-01-01_s21-kopie 19 rs2293012
dbSNP Clinvar 		49954807 8087.83 T G PASS 1/1 293 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60883 0.60880 0.28448 0.15 0.00 None None None None None None PIH1D1|0.036643548|66.93%