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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
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CHR:

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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
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Genes at Omim

ALDH18A1, CCT5,
ALDH18A1 Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Cutis laxa, autosomal dominant 3, 616603 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)

Genes at Clinical Genomics Database

ALDH18A1, CCT5,
ALDH18A1 Spastic paraplegia 9B, autosomal recessive
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal dominant 3
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia

Genes at HGMD

Summary

Number of Variants: 230
Number of Genes: 3

Export to: CSV

ALDH18A1

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 10 . 97385107 23560.28 GA... G,* PASS 2/2 9 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

C11orf16

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 11 . 8947338 3869.34 T G,* PASS 2/2 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CCT5

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 5 . 10263350 50116.96 GGA G,* PASS 2/2 41 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263342 77587.28 AG AGG,* PASS 2/2 47 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263352 48609.47 A G,* PASS 2/2 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263351 52324.85 GA G,* PASS 2/2 41 FRAME_SHIFT HIGH 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 X . 48295618 431.74 CTG CT... PASS 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered X . 8499199 1513.38 AAAG A,* PASS 2/2 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered X . 7843976 35082.42 C T,* VQSRTrancheSNP99.90to100.00 2/2 34 None None None 0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered X . 7275929 337.38 CTTT C,... PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered X . 1417806 5666.36 GA... G,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered X . 32327195 685.19 CA C,* PASS 2/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50208430 3499.8 CAA C,CA PASS 2/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 42639843 10457.66 CTTT C,... PASS 2/2 88 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 20973046 213.51 C CA... PASS 2/2 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 10716695 353.52 C G,* PASS 2/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 10716685 771.42 C G,* PASS 2/2 3 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 . 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 . 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 . 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 . 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 . 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 . 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 . 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 . 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 19 . 55358535 3432.7 T C,* PASS 2/2 63 None None None -0.25 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 55358524 3387.05 C T,* PASS 2/2 63 None None None 3.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 32659136 244.97 TTTC T,* PASS 2/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 35111544 1205.68 G C,* PASS 2/2 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 23755598 9509.3 CAT C,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 23755596 7273.01 CACAT C,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 23755594 4779.81 CA... C,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 23755592 5116.98 CA... C,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 13980731 11229.06 T C,... PASS 2/2 42 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 9471420 2762.04 A T,* PASS 2/2 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8969615 1922.78 A AAG,* PASS 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8969609 3415.56 GA... GA... PASS 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8969605 190.99 AAG A,* PASS 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6836850 46918.17 A G,* PASS 2/2 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6836848 49141.88 A G,* PASS 2/2 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 3180467 572.44 T A,* PASS 2/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs764528439
dbSNP
1147433 2869.2 G C,* PASS 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 63724274 8441.39 T C,* VQSRTrancheSNP99.90to100.00 2/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 63563911 5205.11 AAAAT A,* PASS 2/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 75623876 4986.43 C CGG,* PASS 2/2 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 71338831 1921.61 A C,* PASS 2/2 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 61402967 31247.13 A AGG,* PASS 2/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 61402962 24323.6 GA... G,* PASS 2/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 61402960 24726.22 GA... G,* PASS 2/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 61402954 22654.17 GA... G,* PASS 2/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 45024340 7612.37 G T,* PASS 2/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 45024330 2357.52 TG... T,* PASS 2/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 45024318 912.25 TG... T,* PASS 2/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 41184600 32966.85 G A,* PASS 2/2 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 41184574 38175.77 T C,* VQSRTrancheSNP99.90to100.00 2/2 29 None None None -2.56 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 41184560 49736.98 T C,* VQSRTrancheSNP99.90to100.00 2/2 29 None None None -1.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 15740068 58376.94 A AC,* PASS 2/2 116 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 10641505 16770.23 TGTC T,* PASS 2/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 10639964 43314.64 TAAA T,... PASS 2/2 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 10632115 14712.3 TG T,* PASS 2/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 10632114 14708.95 T G,* VQSRTrancheSNP99.90to100.00 2/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4955872 18245.37 T C,* PASS 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 3731342 8368.59 T C,* PASS 2/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 3731341 9330.59 T C,* PASS 2/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 3731340 9291.44 T TC,* PASS 2/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 2694440 7073.73 A G,* PASS 2/2 60 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 1787011 39030.23 G T,* PASS 2/2 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 1002149 657.73 A T,* PASS 2/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 83852864 3161.11 T C,* PASS 2/2 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 31225190 1156.29 C G,* PASS 2/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 15104460 1880.69 T A,* PASS 2/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 15104459 2005.7 G T,* PASS 2/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 15104429 13543.96 G A,* VQSRTrancheSNP99.90to100.00 2/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 15104428 5164.93 CG... C,* PASS 2/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 11345939 1150.39 TGG T,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 74244062 128821.08 G C,* VQSRTrancheSNP99.90to100.00 2/2 81 None None None -1.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 62783721 16777.95 CT... C,... PASS 2/2 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 40289927 12911.32 AA... AA... PASS 2/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 32964016 49505.69 TA... TA... PASS 2/2 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 23445186 2440.16 A G,* VQSRTrancheSNP99.90to100.00 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 105919353 986.59 G A,* PASS 2/2 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 92688195 22550.95 C T,* PASS 2/2 186 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 91797737 25991.79 A C,* PASS 2/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 22925166 8721.85 TAA T,... PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113164503 73180.23 T C,TC PASS 2/2 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 52110667 11383.06 C T,* PASS 2/2 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 37746457 136711.6 TAA T,TA PASS 2/2 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 132730393 12928.6 CC... C,* PASS 2/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 132730374 11886.0 TC... T,* PASS 2/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 132730358 11895.47 CC... C,* PASS 2/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 132730342 12030.5 T C,* PASS 2/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 132730341 12030.31 A G,* PASS 2/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 133192107 2742.63 CTTT CT... PASS 2/2 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 103947974 3948.83 ATTT AT... PASS 2/2 85 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 71115829 2286.72 T A,* PASS 2/2 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52675459 12873.61 T C,* PASS 2/2 8 None None None -0.30 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52675442 12793.85 TC... T,* PASS 2/2 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 52675439 12795.22 AC A,* PASS 2/2 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 51403120 788.53 T C,* PASS 2/2 15 None None None None None None None None None None