SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
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
RESET FILTER | Save Config | Save Analysis

Genes at Omim

CCDC11, CCDC114, CCDC40, CCDC65, DNAAF1, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DNAJB13, DRC1, GAS8, HYDIN, IFT74, KATNB1, LRRC6, NME8, RSPH1, RSPH4A, RSPH9, SPAG1,
CCDC11 Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
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)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
KATNB1 Lissencephaly 6, with microcephaly, 616212 (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
RSPH4A Ciliary dyskinesia, primary, 11, 612649 (3)
RSPH9 Ciliary dyskinesia, primary, 12, 612650 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)

Genes at Clinical Genomics Database

CCDC114, CCDC40, CCDC65, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI2, DYX1C1, GAS8, KATNB1, LRRC6, NME8, RSPH1, RSPH4A, RSPH9,
CCDC114 Ciliary dyskinesia, primary, 20
CCDC40 Ciliary dyskinesia, primary, 15
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
GAS8 Ciliary dyskinesia, primary, 33
KATNB1 Lissencephaly 6, with microcephaly
LRRC6 Ciliary dyskinesia, primary 19
NME8 Ciliary dyskinesia, primary, 6
RSPH1 Ciliary dyskinesia, primary, 24
RSPH4A Ciliary dyskinesia, primary, 11
RSPH9 Ciliary dyskinesia, primary, 12

Genes at HGMD

Summary

Number of Variants: 408
Number of Genes: 51

Export to: CSV

C10orf107

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 20165-01-01_s19-kopie 10 rs1992625
dbSNP Clinvar
63520698 14282.74 T C PASS 1/1 557 SYNONYMOUS_CODING LOW SILENT 0.87201 0.87200 0.18156 None None None None None None C10orf107|0.277213376|29.34%

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 20165-01-01_s19-kopie 1 rs2803326
dbSNP Clinvar
1873514 6065.38 A G PASS 0/1 564 SYNONYMOUS_CODING LOW SILENT 0.59245 0.59250 None None None None None None CFAP74|0.001720148|91.8%
View 20165-01-01_s19-kopie 1 rs2803327
dbSNP Clinvar
1873525 5943.92 T C PASS 0/1 571 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 20165-01-01_s19-kopie 1 rs2803336
dbSNP Clinvar
1875858 4565.49 C G PASS 0/1 554 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 20165-01-01_s19-kopie 1 rs2803337
dbSNP Clinvar
1875859 4385.89 A G PASS 0/1 550 SYNONYMOUS_CODING LOW SILENT 0.39776 0.39780 None None None None None None CFAP74|0.001720148|91.8%
View 20165-01-01_s19-kopie 1 rs2803295
dbSNP Clinvar
1861582 11449.97 C T PASS 0/1 923 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 20165-01-01_s19-kopie 7 rs1029365
dbSNP Clinvar
89912301 4962.91 G A PASS 0/1 394 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88419 0.88420 0.20474 0.69 0.01 None None None None None None CFAP69|0.131174602|45.73%
View 20165-01-01_s19-kopie 7 rs1134956
dbSNP Clinvar
89938680 729.11 C T PASS 0/1 137 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.38059 0.38060 0.49745 0.00 1.00 None None None None None None CFAP69|0.131174602|45.73%

CCDC11

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 20165-01-01_s19-kopie 18 rs114015053
dbSNP Clinvar
47777335 905.37 G A PASS 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.00419 0.00419 0.00373 None None None None None None CFAP53|0.02234551|72.99%

CCDC114

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 20165-01-01_s19-kopie 19 rs28582401
dbSNP Clinvar
48807367 6566.46 C A PASS 0/1 610 SYNONYMOUS_CODING LOW SILENT 0.15395 0.15400 0.17938 None None None None None None CCDC114|0.001933114|91.16%
View 20165-01-01_s19-kopie 19 rs74925056
dbSNP Clinvar
48800333 6209.33 G A PASS 0/1 608 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04233 0.04233 0.05213 0.54 0.01 None None None None None None CCDC114|0.001933114|91.16%
View 20165-01-01_s19-kopie 19 rs2242463
dbSNP Clinvar
48806977 7195.46 G A PASS 0/1 598 SYNONYMOUS_CODING LOW SILENT 0.15336 0.15340 0.17884 None None None None None None CCDC114|0.001933114|91.16%
View 20165-01-01_s19-kopie 19 rs7252988
dbSNP Clinvar
48800338 7906.29 A G PASS 0/1 613 SYNONYMOUS_CODING LOW SILENT 0.46466 0.46470 0.37744 None None None None None None CCDC114|0.001933114|91.16%

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 20165-01-01_s19-kopie 16 rs11648684
dbSNP Clinvar
57732888 7387.83 G A PASS 0/1 630 SYNONYMOUS_CODING LOW SILENT 0.08187 0.08187 0.10119 None None None None None None DRC7|0.042533795|64.93%
View 20165-01-01_s19-kopie 16 rs2923144
dbSNP Clinvar
57758732 2934.95 C A PASS 0/1 317 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%

CCDC40

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 20165-01-01_s19-kopie 17 rs2304854
dbSNP Clinvar
78073562 7913.09 A G PASS 0/1 656 SYNONYMOUS_CODING LOW SILENT 0.50160 0.50160 0.49195 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs11867810
dbSNP Clinvar
78041365 7026.03 A G PASS 0/1 600 None None None 0.10563 0.10560 0.00 0.40 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs12952612
dbSNP Clinvar
78071052 3412.72 T C PASS 0/1 317 SYNONYMOUS_CODING LOW SILENT 0.71426 0.71430 0.26281 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs10693712
dbSNP Clinvar
78064145 9524.26 A ACAC PASS 0/1 487 None None None 0.65475 0.65480 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs7207166
dbSNP Clinvar
78064064 10873.67 G A PASS 1/1 451 None None None 0.75599 0.75600 0.06 0.98 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs76013152
dbSNP Clinvar
78039947 8014.65 C T PASS 0/1 752 None None None 0.06210 0.06210 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs11867647
dbSNP Clinvar
78039902 7543.68 T C PASS 0/1 678 None None None 0.08167 0.08167 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs4889953
dbSNP Clinvar
78064015 6091.06 G C PASS 0/1 535 None None None 0.67252 0.67250 0.18 0.00 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs2289527
dbSNP Clinvar
78013724 16912.33 G C PASS 1/1 588 SYNONYMOUS_CODING LOW SILENT 0.95727 0.95730 0.00622 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs117203086
dbSNP Clinvar
78059821 6116.41 T C PASS 0/1 610 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00779 0.00779 0.01842 0.02 0.09 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs35578653
dbSNP Clinvar
78055758 8016.8 T G PASS 0/1 760 SYNONYMOUS_CODING LOW SILENT 0.46426 0.46430 0.47895 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs116296171
dbSNP Clinvar
78041472 6534.98 C T PASS 0/1 510 None None None 0.10523 0.10520 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs75855179
dbSNP Clinvar
78041471 6582.12 G A PASS 0/1 505 None None None 0.10523 0.10520 0.00 None None None None None None CCDC40|0.000987297|95.52%
View 20165-01-01_s19-kopie 17 rs35892854
dbSNP Clinvar
78041467 6724.8 A G PASS 0/1 507 None None None 0.10523 0.10520 0.00 None None None None None None CCDC40|0.000987297|95.52%

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 20165-01-01_s19-kopie 12 rs4760600
dbSNP Clinvar
49314994 4408.54 A G PASS 0/1 488 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%
View 20165-01-01_s19-kopie 12 rs10747556
dbSNP Clinvar
49308284 5868.17 A G PASS 0/1 552 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 20165-01-01_s19-kopie 12 rs10875893
dbSNP Clinvar
49312593 4277.66 A G PASS 0/1 433 SYNONYMOUS_CODING LOW SILENT 0.30771 0.30770 0.30632 None None None None None None CCDC65|0.09413439|52.33%
View 20165-01-01_s19-kopie 12 rs10875894
dbSNP Clinvar
49314862 1099.83 C A PASS 0/1 137 SYNONYMOUS_CODING LOW SILENT 0.30831 0.30830 0.30532 None None None None None None CCDC65|0.09413439|52.33%

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 20165-01-01_s19-kopie 11 rs2616812
dbSNP Clinvar
31263112 11943.68 A G PASS 1/1 437 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76418 0.76420 1.00 0.00 None None None None None None DCDC1|0.277336592|29.32%
View 20165-01-01_s19-kopie 11 rs2616815
dbSNP Clinvar
31327316 4462.74 C T PASS 0/1 451 SYNONYMOUS_CODING LOW SILENT 0.67971 0.67970 0.26381 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 20165-01-01_s19-kopie 16 rs2288020
dbSNP Clinvar
84209738 4986.39 T C PASS 0/1 441 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 20165-01-01_s19-kopie 16 rs2288019
dbSNP Clinvar
84209634 11856.24 C G PASS 1/1 385 SYNONYMOUS_CODING LOW SILENT 0.53175 0.53170 0.48931 None None None None None None DNAAF1|0.000486573|98.51%
View 20165-01-01_s19-kopie 16 rs2288023
dbSNP Clinvar
84209864 5970.33 G C PASS 0/1 556 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 20165-01-01_s19-kopie 16 rs11644164
dbSNP Clinvar
84203939 3171.15 C T PASS 0/1 428 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%
View 20165-01-01_s19-kopie 16 rs9972733
dbSNP Clinvar
84203730 4912.26 G C PASS 0/1 433 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11282 0.11280 0.07477 0.23 0.00 None None None None None None DNAAF1|0.000486573|98.51%
View 20165-01-01_s19-kopie 16 rs17856705
dbSNP Clinvar
84203612 5813.31 A G PASS 0/1 522 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 20165-01-01_s19-kopie 16 rs2288022
dbSNP Clinvar
84209816 5438.73 T C PASS 0/1 500 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%

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 20165-01-01_s19-kopie 14 rs2985686
dbSNP Clinvar
50100683 3280.78 C G PASS 1/1 137 SYNONYMOUS_CODING LOW SILENT 0.55911 0.55910 None None None None None None DNAAF2|0.034155944|67.73%
View 20165-01-01_s19-kopie 14 rs2985687
dbSNP Clinvar
50100386 22389.14 T C PASS 1/1 807 SYNONYMOUS_CODING LOW SILENT 0.48822 0.48820 0.33364 None None None None None None DNAAF2|0.034155944|67.73%
View 20165-01-01_s19-kopie 14 rs9989177
dbSNP Clinvar
50092471 4504.17 T C PASS 0/1 444 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%
View 20165-01-01_s19-kopie 14 rs2985684
dbSNP Clinvar
50101682 15988.06 C G PASS 1/1 586 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 20165-01-01_s19-kopie 14 rs2985685
dbSNP Clinvar
50101370 17310.92 G A PASS 1/1 684 SYNONYMOUS_CODING LOW SILENT 0.49341 0.49340 0.31475 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 20165-01-01_s19-kopie 19 rs2365725
dbSNP Clinvar
55672470 12295.85 T C PASS 1/1 476 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%
View 20165-01-01_s19-kopie 19 rs891187
dbSNP Clinvar
55671374 10089.83 C T PASS 1/1 450 SYNONYMOUS_CODING LOW SILENT 0.33187 0.33190 0.29126 None None None None None None DNAAF3|0.005278927|85.46%
View 20165-01-01_s19-kopie 19 rs890872
dbSNP Clinvar
55671337 15139.95 C T PASS 1/1 601 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 20165-01-01_s19-kopie 19 rs7260320
dbSNP Clinvar
55672784 7295.56 A G PASS 1/1 270 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.22704 0.22700 0.23335 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 20165-01-01_s19-kopie 7 rs147525173
dbSNP Clinvar
21598585 2646.59 A T PASS 0/1 335 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00399 0.00399 0.00017 1.00 0.00 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs6461613
dbSNP Clinvar
21924014 1562.4 A G PASS 0/1 228 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 20165-01-01_s19-kopie 7 rs56333627
dbSNP Clinvar
21939032 2273.34 C A PASS 0/1 256 SYNONYMOUS_CODING LOW SILENT 0.19349 0.19350 0.25408 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs10269582
dbSNP Clinvar
21640361 5241.79 T C PASS 0/1 541 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 20165-01-01_s19-kopie 7 rs10224537
dbSNP Clinvar
21640405 6000.32 A G PASS 0/1 579 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 20165-01-01_s19-kopie 7 rs3827657
dbSNP Clinvar
21641218 5402.64 G A PASS 0/1 489 SYNONYMOUS_CODING LOW SILENT 0.75379 0.75380 0.19933 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs2285944
dbSNP Clinvar
21582964 6094.39 A T PASS 0/1 549 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41194 0.41190 0.42795 0.07 0.71 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs12536928
dbSNP Clinvar
21765452 3866.32 C T PASS 0/1 420 SYNONYMOUS_CODING LOW SILENT 0.36282 0.36280 0.43883 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs2072221
dbSNP Clinvar
21775443 13200.06 G A PASS 1/1 457 SYNONYMOUS_CODING LOW SILENT 0.01118 0.75540 0.14250 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs2285943
dbSNP Clinvar
21582963 6583.75 G T PASS 0/1 574 STOP_GAINED HIGH NONSENSE 0.41194 0.41190 0.42685 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs1109806
dbSNP Clinvar
21778449 4354.67 C T PASS 1/1 150 SYNONYMOUS_CODING LOW SILENT 0.53954 0.53950 0.33524 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs6963535
dbSNP Clinvar
21628237 1641.63 C T PASS 0/1 197 SYNONYMOUS_CODING LOW SILENT 0.99062 0.99060 0.00987 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs9639393
dbSNP Clinvar
21779278 7002.21 A G PASS 1/1 249 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%
View 20165-01-01_s19-kopie 7 rs2214326
dbSNP Clinvar
21856151 5866.66 G A PASS 0/1 535 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 20165-01-01_s19-kopie 7 rs4722064
dbSNP Clinvar
21893993 1676.72 G T PASS 0/1 166 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 20165-01-01_s19-kopie 7 rs4722067
dbSNP Clinvar
21901566 6853.62 T C PASS 0/1 524 SYNONYMOUS_CODING LOW SILENT 0.63439 0.63440 0.24229 None None None None None None DNAH11|0.38215847|21.9%
View 20165-01-01_s19-kopie 7 rs12666072
dbSNP Clinvar
21901593 4619.52 G A PASS 0/1 483 SYNONYMOUS_CODING LOW SILENT 0.09385 0.09385 0.03360 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 20165-01-01_s19-kopie 5 rs1530498
dbSNP Clinvar
13902220 3018.56 T C PASS 0/1 282 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%
View 20165-01-01_s19-kopie 5 rs7703349
dbSNP Clinvar
13865980 3680.4 T C PASS 0/1 313 SYNONYMOUS_CODING LOW SILENT 0.46865 0.46870 0.49831 None None None None None None DNAH5|0.235040337|32.91%
View 20165-01-01_s19-kopie 5 rs6554827
dbSNP Clinvar
13864728 3760.61 C A PASS 0/1 365 SYNONYMOUS_CODING LOW SILENT 0.39928 None None None None None None DNAH5|0.235040337|32.91%
View 20165-01-01_s19-kopie 5 rs10513155
dbSNP Clinvar
13788886 4436.38 C A PASS 0/1 476 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 20165-01-01_s19-kopie 5 rs339445
dbSNP Clinvar
13944512 4666.91 A C PASS 0/1 421 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 20165-01-01_s19-kopie 5 rs1530496
dbSNP Clinvar
13931340 4716.55 C T PASS 0/1 424 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50060 0.50060 0.39051 1.00 0.00 None None None None None None DNAH5|0.235040337|32.91%
View 20165-01-01_s19-kopie 5 rs3213936
dbSNP Clinvar
13913885 1603.74 A G PASS 0/1 233 SYNONYMOUS_CODING LOW SILENT 0.52875 0.52880 0.42965 None None None None None None DNAH5|0.235040337|32.91%
View 20165-01-01_s19-kopie 5 rs1445823
dbSNP Clinvar
13900345 9951.7 A G PASS 1/1 361 SYNONYMOUS_CODING LOW SILENT 0.60124 0.60120 0.47786 None None None None None None DNAH5|0.235040337|32.91%
View 20165-01-01_s19-kopie 5 rs115004914
dbSNP Clinvar
13900321 3116.04 G T PASS 0/1 319 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 20165-01-01_s19-kopie 5 rs4701997
dbSNP Clinvar
13894894 4920.63 T A PASS 0/1 514 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 20165-01-01_s19-kopie 5 rs10057007
dbSNP Clinvar
13882841 1269.82 A G PASS 0/1 232 SYNONYMOUS_CODING LOW SILENT 0.25060 0.25060 0.26988 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 20165-01-01_s19-kopie 17 rs12449553
dbSNP Clinvar
11757556 7948.53 C G PASS 0/1 753 SYNONYMOUS_CODING LOW SILENT 0.00200 0.40360 0.39605 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs2286303
dbSNP Clinvar
11833287 16354.76 A G PASS 1/1 590 SYNONYMOUS_CODING LOW SILENT 0.22244 0.22240 0.25750 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs17612861
dbSNP Clinvar
11835331 11171.27 G A PASS 1/1 403 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%
View 20165-01-01_s19-kopie 17 rs1859887
dbSNP Clinvar
11833365 17156.83 G A PASS 1/1 597 SYNONYMOUS_CODING LOW SILENT 0.22145 0.22140 0.25727 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs8070256
dbSNP Clinvar
11786951 12544.4 T C PASS 1/1 453 SYNONYMOUS_CODING LOW SILENT 0.38598 0.38600 0.40604 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs11078022
dbSNP Clinvar
11511457 3047.36 C T PASS 0/1 205 SYNONYMOUS_CODING LOW SILENT 0.44329 0.44330 0.34599 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs17599639
dbSNP Clinvar
11511480 2612.41 G A PASS 0/1 246 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02336 0.02336 0.03345 1.00 0.00 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs9892256
dbSNP Clinvar
11523082 13537.04 A G PASS 1/1 489 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 20165-01-01_s19-kopie 17 rs61740059
dbSNP Clinvar
11543610 5885.48 A G PASS 0/1 582 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01338 0.01338 0.02253 0.03 0.79 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs8071438
dbSNP Clinvar
11583089 14770.73 T C PASS 1/1 527 SYNONYMOUS_CODING LOW SILENT 0.94788 0.94790 0.03168 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs3744578
dbSNP Clinvar
11648332 7543.84 C T PASS 0/1 679 SYNONYMOUS_CODING LOW SILENT 0.77017 0.77020 0.26411 None None None None None None DNAH9|0.176098085|39.51%
View 20165-01-01_s19-kopie 17 rs3744581
dbSNP Clinvar
11651057 6770.23 A G PASS 0/1 629 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22464 0.22460 0.21613 0.08 0.73 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 20165-01-01_s19-kopie 17 rs1979370
dbSNP Clinvar
72308319 6470.76 G A PASS 0/1 604 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%
View 20165-01-01_s19-kopie 17 rs8073660
dbSNP Clinvar
72301432 6746.62 A G PASS 0/1 536 SYNONYMOUS_CODING LOW SILENT 0.39876 0.39880 0.46548 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 20165-01-01_s19-kopie 11 rs653263
dbSNP Clinvar
73670645 6228.95 T C PASS 0/1 538 SYNONYMOUS_CODING LOW SILENT 0.60104 0.60100 0.42392 None None None None None None DNAJB13|0.167244914|40.62%

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 20165-01-01_s19-kopie 2 rs3795958
dbSNP Clinvar
26667130 10190.28 A G PASS 1/1 384 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16114 0.16110 0.12525 0.03 0.58 None None None None None None DRC1|0.021378182|73.5%
View 20165-01-01_s19-kopie 2 rs1402962
dbSNP Clinvar
26676322 17536.98 A G PASS 1/1 616 SYNONYMOUS_CODING LOW SILENT 0.99441 0.99440 0.00469 None None None None None None DRC1|0.021378182|73.5%
View 20165-01-01_s19-kopie 2 rs939820
dbSNP Clinvar
26667615 12862.19 T C PASS 1/1 470 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%
View 20165-01-01_s19-kopie 2 rs7423300
dbSNP Clinvar
26647277 12187.01 T G PASS 1/1 436 SYNONYMOUS_CODING LOW SILENT 0.62340 0.62340 0.21429 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 20165-01-01_s19-kopie 15 rs77641439
dbSNP Clinvar
55722872 6962.94 G C PASS 1/1 246 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%

EEFSEC

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 20165-01-01_s19-kopie 3 rs11719546
dbSNP Clinvar
127872602 1053.87 A G PASS 0/1 182 SYNONYMOUS_CODING LOW SILENT 0.13678 0.13680 0.11607 None None None None None None RUVBL1|0.805815825|5.67%,EEFSEC|0.161789013|41.32%