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.487G>A (p.Ala163Thr)
|
rs148544801
|
0.00003
|
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.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)
|
rs28940280
|
0.00001
|
NC_000013.11:g.(?_76995053)_(76996137_?)del
|
|
|
NM_001366624.2(CLN5):c.*43G>A
|
rs2034339711
|
|
NM_006493.4(CLN5):c.1014del (p.Phe338fs)
|
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_006493.4(CLN5):c.187del (p.Arg63fs)
|
rs1555273881
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)
|
rs2034242246
|
|
NM_006493.4(CLN5):c.216del (p.Lys73fs)
|
|
|
NM_006493.4(CLN5):c.242C>A (p.Ser81Ter)
|
|
|
NM_006493.4(CLN5):c.251_252del (p.Pro84fs)
|
rs2154034636
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.404G>A (p.Trp135Ter)
|
rs2154034716
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
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.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.529G>T (p.Glu177Ter)
|
|
|
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter)
|
rs869312751
|
|
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)
|
|
|
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter)
|
rs2154035107
|
|
NM_006493.4(CLN5):c.599_600insCA (p.Lys200fs)
|
rs2154035111
|
|
NM_006493.4(CLN5):c.606_618del (p.Asp202fs)
|
|
|
NM_006493.4(CLN5):c.623_627del (p.Ile207_Tyr208insTer)
|
|
|
NM_006493.4(CLN5):c.627T>G (p.Tyr209Ter)
|
rs763980789
|
|
NM_006493.4(CLN5):c.636G>A (p.Trp212Ter)
|
|
|
NM_006493.4(CLN5):c.653dup (p.Glu219fs)
|
|
|
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.679del (p.Asp227fs)
|
rs2154035131
|
|
NM_006493.4(CLN5):c.687C>G (p.Tyr229Ter)
|
|
|
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.743_744dup (p.Phe249fs)
|
|
|
NM_006493.4(CLN5):c.764dup (p.Asn255fs)
|
|
|
NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter)
|
|
|
NM_006493.4(CLN5):c.772del (p.Arg258fs)
|
rs386833982
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006493.4(CLN5):c.786C>G (p.Tyr262Ter)
|
|
|
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.812del (p.Asn271fs)
|
rs2154035159
|
|
NM_006493.4(CLN5):c.827_828del (p.Phe276fs)
|
rs2154035166
|
|
NM_006493.4(CLN5):c.838_841del (p.Gly280fs)
|
rs1555274365
|
|
NM_006493.4(CLN5):c.844_845dup (p.Thr283fs)
|
rs2034346369
|
|
NM_006493.4(CLN5):c.882dup (p.Phe295fs)
|
|
|
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.936del (p.Phe312fs)
|
rs386833966
|
|
NM_006493.4(CLN5):c.956_957del (p.Lys319fs)
|
rs2154035196
|
|
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.965_968del (p.Tyr322fs)
|
rs2034349431
|
|
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.989G>A (p.Trp330Ter)
|
|
|
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)
|
rs386833968
|
|