Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555273992
rs1555273992
CLN5 ; FBXL3
1 1.000 0.120 13 76995998 frameshift variant T/- delins 0.700 0
dbSNP: rs1555274005
rs1555274005
CLN5 ; FBXL3
1 1.000 0.120 13 76996071 frameshift variant -/TGATG delins 0.700 0
dbSNP: rs1555274014
rs1555274014
CLN5 ; FBXL3
1 1.000 0.120 13 76996128 splice donor variant G/A snv 0.700 0
dbSNP: rs1555274312
rs1555274312
CLN5 ; FBXL3
1 1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 0.700 0
dbSNP: rs1555274337
rs1555274337
CLN5 ; FBXL3
1 1.000 0.120 13 77000556 frameshift variant -/CAGAGACA delins 0.700 0
dbSNP: rs1555274338
rs1555274338
CLN5 ; FBXL3
2 1.000 0.120 13 77000567 stop gained G/A;C snv 0.700 0
dbSNP: rs1555274343
rs1555274343
CLN5 ; FBXL3
1 1.000 0.120 13 77000594 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555274344
rs1555274344
CLN5 ; FBXL3
1 1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 0.700 0
dbSNP: rs1555274365
rs1555274365
CLN5 ; FBXL3
1 1.000 0.120 13 77000729 frameshift variant GGAA/- delins 0.700 0
dbSNP: rs1555274369
rs1555274369
CLN5 ; FBXL3
1 1.000 0.120 13 77000796 frameshift variant A/- delins 0.700 0
dbSNP: rs1566219136
rs1566219136
CLN5 ; FBXL3
1 1.000 0.120 13 76995993 missense variant G/A snv 0.700 0
dbSNP: rs200348035
rs200348035
CLN5 ; FBXL3
1 1.000 0.120 13 76992182 stop gained G/A;T snv 4.5E-06 0.700 0
dbSNP: rs267606738
rs267606738
CLN5 ; FBXL3
1 1.000 0.120 13 76995119 missense variant G/A snv 0.700 0
dbSNP: rs386833963
rs386833963
CLN5 ; FBXL3
1 1.000 0.120 13 77000771 stop gained C/A snv 0.700 0
dbSNP: rs386833964
rs386833964
CLN5 ; FBXL3
1 1.000 0.120 13 77000813 frameshift variant CT/- delins 0.700 0
dbSNP: rs386833965
rs386833965
CLN5 ; FBXL3
1 1.000 0.120 13 77000817 frameshift variant TT/- del 0.700 0
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 0
dbSNP: rs386833970
rs386833970
CLN5 ; FBXL3
1 1.000 0.120 13 76992238 frameshift variant -/C delins 0.700 0
dbSNP: rs386833973
rs386833973
CLN5 ; FBXL3
1 1.000 0.120 13 76995942 frameshift variant -/A ins 0.700 0
dbSNP: rs386833974
rs386833974
CLN5 ; FBXL3
1 1.000 0.120 13 76995980 stop gained C/T snv 0.700 0
dbSNP: rs386833982
rs386833982
CLN5 ; FBXL3
1 1.000 0.120 13 77000663 frameshift variant A/- delins 0.700 0
dbSNP: rs386833983
rs386833983
CLN5 ; FBXL3
1 1.000 0.120 13 77000695 frameshift variant GGAAATGAAACATCTG/- delins 0.700 0
dbSNP: rs730882146
rs730882146
CLN5 ; FBXL3
1 1.000 0.120 13 77000680 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs750935331
rs750935331
CLN5 ; FBXL3
1 1.000 0.120 13 77000850 stop gained C/G;T snv 4.1E-06 0.700 0
dbSNP: rs764495616
rs764495616
CLN5 ; FBXL3
1 1.000 0.120 13 77000685 stop gained G/C;T snv 0.700 0