NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)
|
rs768449493
|
0.00004
|
NM_006493.4(CLN5):c.522dup (p.Trp175fs)
|
rs386833979
|
0.00003
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
NM_006493.4(CLN5):c.339+5G>C
|
rs202146713
|
0.00002
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)
|
rs28940280
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
NM_006493.4(CLN5):c.1026dup (p.Tyr343fs)
|
|
|
NM_006493.4(CLN5):c.174-2A>G
|
rs2034241585
|
|
NM_006493.4(CLN5):c.187del (p.Arg63fs)
|
rs1555273881
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.18del (p.Asp6fs)
|
rs1555273567
|
|
NM_006493.4(CLN5):c.191del (p.Pro64fs)
|
rs1555273882
|
|
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)
|
rs2034242246
|
|
NM_006493.4(CLN5):c.306G>A (p.Trp102Ter)
|
|
|
NM_006493.4(CLN5):c.338T>A (p.Leu113Ter)
|
|
|
NM_006493.4(CLN5):c.340-1del
|
rs1057516390
|
|
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG
|
|
|
NM_006493.4(CLN5):c.342_346dup (p.Met116fs)
|
|
|
NM_006493.4(CLN5):c.350A>C (p.His117Pro)
|
|
|
NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)
|
|
|
NM_006493.4(CLN5):c.365T>C (p.Phe122Ser)
|
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs)
|
rs386833973
|
|
NM_006493.4(CLN5):c.400G>T (p.Glu134Ter)
|
|
|
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter)
|
rs386833974
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
NM_006493.4(CLN5):c.429del (p.Cys144fs)
|
|
|
NM_006493.4(CLN5):c.431_432del (p.Cys144fs)
|
|
|
NM_006493.4(CLN5):c.438del (p.His148fs)
|
rs1555273992
|
|
NM_006493.4(CLN5):c.441_442dup (p.His148fs)
|
|
|
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)
|
rs386833976
|
|
NM_006493.4(CLN5):c.465_499delinsTCCCATCAA (p.Phe157fs)
|
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser)
|
rs386833978
|
|
NM_006493.4(CLN5):c.474del (p.Trp158fs)
|
|
|
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)
|
rs1555274005
|
|
NM_006493.4(CLN5):c.525G>A (p.Trp175Ter)
|
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.565+1G>A
|
rs1555274014
|
|
NM_006493.4(CLN5):c.594G>A (p.Trp198Ter)
|
rs2034339711
|
|
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer)
|
rs1593914689
|
|
NM_006493.4(CLN5):c.609del (p.Asn203fs)
|
|
|
NM_006493.4(CLN5):c.618_619insCT (p.Ile207fs)
|
|
|
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)
|
rs386833981
|
|
NM_006493.4(CLN5):c.626A>G (p.Tyr209Cys)
|
|
|
NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter)
|
|
|
NM_006493.4(CLN5):c.655G>T (p.Glu219Ter)
|
|
|
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)
|
rs1555274337
|
|
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.705_706del (p.Leu236fs)
|
rs1555274343
|
|
NM_006493.4(CLN5):c.713_720del (p.Thr238fs)
|
rs1555274344
|
|
NM_006493.4(CLN5):c.717dup (p.Asn240Ter)
|
|
|
NM_006493.4(CLN5):c.762_765del (p.Asn255fs)
|
|
|
NM_006493.4(CLN5):c.772del (p.Arg258fs)
|
rs386833982
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)
|
rs764495616
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006493.4(CLN5):c.828del (p.Phe276fs)
|
|
|
NM_006493.4(CLN5):c.838_841del (p.Gly280fs)
|
rs1555274365
|
|
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter)
|
rs386833963
|
|
NM_006493.4(CLN5):c.906del (p.Glu303fs)
|
rs1555274369
|
|
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)
|
rs121908292
|
|
NM_006493.4(CLN5):c.913_914del (p.Leu305fs)
|
rs2154035183
|
|
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)
|
rs1555274373
|
|
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)
|
rs386833964
|
|
NM_006493.4(CLN5):c.925_926del (p.Leu309fs)
|
rs386833965
|
|
NM_006493.4(CLN5):c.936del (p.Phe312fs)
|
rs386833966
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)
|
rs750935331
|
|
NM_006493.4(CLN5):c.968T>A (p.Leu323Ter)
|
|
|
NM_006493.4(CLN5):c.969_972del (p.Leu323fs)
|
|
|
NM_006493.4(CLN5):c.981del (p.Phe327fs)
|
rs2154035202
|
|
NM_006493.4(CLN5):c.982G>T (p.Glu328Ter)
|
rs2154035204
|
|
NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter)
|
rs2034349886
|
|
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)
|
rs386833968
|
|
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)
|
rs386833968
|
|
NM_006493.4(CLN5):c.995del (p.Leu332fs)
|
rs1555274387
|
|
NM_006493.4(CLN5):c.997C>T (p.Pro333Ser)
|
|
|