NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)
|
rs386833744
|
0.00004
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042432.2(CLN3):c.125+5G>A
|
rs386833704
|
0.00001
|
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)
|
rs796052338
|
0.00001
|
NM_001042432.2(CLN3):c.1A>G (p.Met1Val)
|
rs386833708
|
0.00001
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)
|
rs796052335
|
0.00001
|
NM_001042432.2(CLN3):c.962+2T>G
|
rs746674736
|
0.00001
|
NM_001042432.2(CLN3):c.962+3A>T
|
rs796052336
|
0.00001
|
NC_000016.10:g.(?_28475343)_(28484138_?)del
|
|
|
NC_000016.10:g.(?_28475343)_(28486650_?)del
|
|
|
NC_000016.10:g.(?_28477496)_(28491779_?)del
|
|
|
NC_000016.10:g.(?_28483996)_(28484128_?)del
|
|
|
NC_000016.10:g.(?_28485965)_(28486930_?)del
|
|
|
NC_000016.10:g.(?_28486327)_(28486670_?)del
|
|
|
NC_000016.10:g.(?_28486347)_(28486650_?)del
|
|
|
NC_000016.9:g.(?_28484798)_28497560del
|
|
|
NC_000016.9:g.(?_28488827)_(28489208_?)del
|
|
|
NC_000016.9:g.(?_28488837)_(28495459_?)del
|
|
|
NC_000016.9:g.(?_28493416)_(28494003_?)del
|
|
|
NC_000016.9:g.(?_28493426)_(28493993_?)del
|
|
|
NC_000016.9:g.(?_28495307)_(28495459_?)del
|
|
|
NC_000016.9:g.(?_28495317)_(28500717_?)del
|
|
|
NC_000016.9:g.(?_28502803)_(28503080_?)del
|
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)
|
rs386833696
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)
|
rs1057516677
|
|
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)
|
rs386833700
|
|
NM_001042432.2(CLN3):c.105del (p.His34_Trp35insTer)
|
rs2141721909
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
|
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.1198-2A>C
|
rs2141693746
|
|
NM_001042432.2(CLN3):c.1246_1247dup (p.Asp416fs)
|
|
|
NM_001042432.2(CLN3):c.125+1G>C
|
rs775616181
|
|
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
|
|
|
NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer)
|
rs1064795153
|
|
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
|
|
|
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)
|
rs386833708
|
|
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)
|
rs386833712
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.30del (p.Ser12fs)
|
rs2141722729
|
|
NM_001042432.2(CLN3):c.317dup (p.Thr108fs)
|
|
|
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)
|
rs386833715
|
|
NM_001042432.2(CLN3):c.379del (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.392del (p.Ser131fs)
|
rs2141714500
|
|
NM_001042432.2(CLN3):c.3G>A (p.Met1Ile)
|
|
|
NM_001042432.2(CLN3):c.413del (p.Ser138fs)
|
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter)
|
rs1228953213
|
|
NM_001042432.2(CLN3):c.461-1G>A
|
rs386833722
|
|
NM_001042432.2(CLN3):c.461-2A>G
|
|
|
NM_001042432.2(CLN3):c.461-3C>G
|
rs181995380
|
|
NM_001042432.2(CLN3):c.533+1G>C
|
rs386833728
|
|
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.569dup (p.Ala191fs)
|
rs386833732
|
|
NM_001042432.2(CLN3):c.592del (p.Ser198fs)
|
rs2141712336
|
|
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
|
rs267606737
|
|
NM_001042432.2(CLN3):c.598_601dup (p.Gly201fs)
|
|
|
NM_001042432.2(CLN3):c.599_615del (p.Leu200fs)
|
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
NM_001042432.2(CLN3):c.639del (p.Leu214fs)
|
rs2046218391
|
|
NM_001042432.2(CLN3):c.683del (p.Phe228fs)
|
|
|
NM_001042432.2(CLN3):c.709C>T (p.Gln237Ter)
|
rs2141707084
|
|
NM_001042432.2(CLN3):c.729del (p.Glu244fs)
|
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)
|
rs1064794233
|
|
NM_001042432.2(CLN3):c.790+1del
|
rs1555468374
|
|
NM_001042432.2(CLN3):c.825G>A (p.Trp275Ter)
|
rs2141704162
|
|
NM_001042432.2(CLN3):c.828_829del (p.Phe278fs)
|
|
|
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)
|
rs369008702
|
|
NM_001042432.2(CLN3):c.871dup (p.Val291fs)
|
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.944_945insGA (p.His315fs)
|
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)
|
|
|
NM_001042432.2(CLN3):c.985_988del (p.Gly329fs)
|
rs2141702839
|
|
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
|
rs2046109345
|
|