NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)
|
rs765097897
|
0.00002
|
NM_018941.4(CLN8):c.543+1G>T
|
rs756267448
|
0.00002
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)
|
rs759830733
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.509C>T (p.Thr170Met)
|
rs188259026
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018941.4(CLN8):c.611G>A (p.Arg204His)
|
rs386834134
|
0.00001
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_018941.3(CLN8):c.[208C>T;792C>G]
|
|
|
NM_018941.3(CLN8):c.[212C>T];[562_563delCT]
|
|
|
NM_018941.4(CLN8):c.181_183del (p.Lys61del)
|
rs386834123
|
|
NM_018941.4(CLN8):c.204del (p.Thr69fs)
|
rs1554449028
|
|
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)
|
rs386834124
|
|
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)
|
rs1554449047
|
|
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)
|
rs386834125
|
|
NM_018941.4(CLN8):c.263del (p.Asp88fs)
|
rs1057516582
|
|
NM_018941.4(CLN8):c.2T>C (p.Met1Thr)
|
rs1554448874
|
|
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)
|
rs386834126
|
|
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)
|
rs554042394
|
|
NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
|
rs386834127
|
|
NM_018941.4(CLN8):c.43del (p.Asp15fs)
|
|
|
NM_018941.4(CLN8):c.464C>T (p.Ala155Val)
|
rs386834128
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser)
|
rs386834130
|
|
NM_018941.4(CLN8):c.47del (p.Leu16fs)
|
rs1057516867
|
|
NM_018941.4(CLN8):c.507C>T (p.Ser169=)
|
rs386834131
|
|
NM_018941.4(CLN8):c.50del (p.Asp17fs)
|
rs1554448924
|
|
NM_018941.4(CLN8):c.544-1G>T
|
|
|
NM_018941.4(CLN8):c.544-2A>G
|
rs1554451484
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)
|
rs386834133
|
|
NM_018941.4(CLN8):c.593_596dup (p.Met200fs)
|
rs1801672516
|
|
NM_018941.4(CLN8):c.594del (p.His199fs)
|
rs1554451504
|
|
NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)
|
|
|
NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)
|
|
|
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
|
rs386834134
|
|
NM_018941.4(CLN8):c.634TGG[1] (p.Trp213del)
|
rs386834135
|
|
NM_018941.4(CLN8):c.66del (p.Ile23fs)
|
rs34238807
|
|
NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)
|
|
|
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
|
|
|
NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)
|
|
|
NM_018941.4(CLN8):c.725del (p.Thr242fs)
|
rs2129015276
|
|
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)
|
rs746397087
|
|
NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)
|
rs386834138
|
|
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
|
|
|
NM_018941.4(CLN8):c.88del (p.Ala30fs)
|
rs386834139
|
|