Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386833978
CLN5 ; FBXL3
1.000 0.120 13 76996035 missense variant G/C snv 1
rs1555274005
FBXL3 ; CLN5
1.000 0.120 13 76996071 frameshift variant -/TGATG delins 1
rs386833979
FBXL3 ; CLN5
0.925 0.120 13 76996083 frameshift variant -/C delins 2
rs386833980
FBXL3 ; CLN5
0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 2
rs587780315
FBXL3 ; CLN5
1.000 0.120 13 76996086 frameshift variant G/- delins 2
rs869312751
FBXL3 ; CLN5
1.000 0.120 13 76996109 stop gained C/T snv 1
rs1555274014
CLN5 ; FBXL3
1.000 0.120 13 76996128 splice donor variant G/A snv 1
rs1555274312
FBXL3 ; CLN5
1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 1
rs386833981
FBXL3 ; CLN5
0.925 0.120 13 77000517 missense variant T/G snv 3
rs1555274337
CLN5 ; FBXL3
1.000 0.120 13 77000556 frameshift variant -/CAGAGACA delins 1
rs1555274338
FBXL3 ; CLN5
1.000 0.120 13 77000567 stop gained G/A;C snv 2
rs28940280
FBXL3 ; CLN5
0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 2
rs1555274343
FBXL3 ; CLN5
1.000 0.120 13 77000594 frameshift variant GT/- delins 1
rs1555274344
CLN5 ; FBXL3
1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 1
rs386833982
FBXL3 ; CLN5
1.000 0.120 13 77000663 frameshift variant A/- delins 1
rs786204644
FBXL3 ; CLN5
0.925 0.120 13 77000667 frameshift variant AT/- delins 2
rs730882146
FBXL3 ; CLN5
1.000 0.120 13 77000680 missense variant G/A snv 4.0E-06 1
rs764495616
FBXL3 ; CLN5
1.000 0.120 13 77000685 stop gained G/C;T snv 1
rs386833983
CLN5 ; FBXL3
1.000 0.120 13 77000695 frameshift variant GGAAATGAAACATCTG/- delins 1
rs1555274365
CLN5 ; FBXL3
1.000 0.120 13 77000729 frameshift variant GGAA/- delins 1
rs386833963
FBXL3 ; CLN5
1.000 0.120 13 77000771 stop gained C/A snv 1
rs1555274369
FBXL3 ; CLN5
1.000 0.120 13 77000796 frameshift variant A/- delins 1
rs121908292
CLN5 ; FBXL3
1.000 0.120 13 77000799 stop gained G/T snv 1
rs1555274373
CLN5 ; FBXL3
1.000 0.120 13 77000808 frameshift variant T/- delins 1
rs386833964
CLN5 ; FBXL3
1.000 0.120 13 77000813 frameshift variant CT/- delins 1