NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_001042432.2(CLN3):c.*155A>C
|
rs113112766
|
0.00886
|
NM_001042432.2(CLN3):c.*99C>T
|
rs113845299
|
0.00853
|
NM_001042432.2(CLN3):c.-129G>C
|
rs141305257
|
0.00315
|
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
|
rs11552531
|
0.00312
|
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)
|
rs148248159
|
0.00115
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_001042432.1(CLN3):c.-264C>G
|
rs187163584
|
0.00096
|
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)
|
rs150348015
|
0.00074
|
NM_001042432.2(CLN3):c.*55C>A
|
rs199979207
|
0.00065
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu)
|
rs137858807
|
0.00031
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
NM_001042432.2(CLN3):c.616G>A (p.Gly206Ser)
|
rs370603922
|
0.00023
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)
|
rs144770450
|
0.00017
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_001042432.2(CLN3):c.*200A>G
|
rs561135374
|
0.00014
|
NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys)
|
rs386833726
|
0.00011
|
NM_001042432.2(CLN3):c.-41C>A
|
rs370217726
|
0.00010
|
NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val)
|
rs148514847
|
0.00010
|
NM_001042432.2(CLN3):c.361C>G (p.Leu121Val)
|
rs752282954
|
0.00010
|
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro)
|
rs141816714
|
0.00010
|
NM_001042432.2(CLN3):c.*78G>A
|
rs751235567
|
0.00009
|
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met)
|
rs150913606
|
0.00009
|
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser)
|
rs769104531
|
0.00009
|
NM_001042432.2(CLN3):c.759C>A (p.Leu253=)
|
rs772274552
|
0.00009
|
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)
|
rs377369610
|
0.00008
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_001042432.2(CLN3):c.250C>A (p.His84Asn)
|
rs201329358
|
0.00007
|
NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys)
|
rs776725094
|
0.00006
|
NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile)
|
rs759049027
|
0.00006
|
NM_001042432.2(CLN3):c.126-8C>T
|
rs770136863
|
0.00006
|
NM_001042432.2(CLN3):c.222T>C (p.His74=)
|
rs201225986
|
0.00006
|
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met)
|
rs376421578
|
0.00006
|
NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser)
|
rs752205710
|
0.00005
|
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)
|
rs373034150
|
0.00005
|
NM_001042432.2(CLN3):c.615C>T (p.Ala205=)
|
rs145631076
|
0.00005
|
NM_001042432.2(CLN3):c.*29A>G
|
rs778438984
|
0.00004
|
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=)
|
rs376478363
|
0.00004
|
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)
|
rs777383109
|
0.00004
|
NM_001042432.2(CLN3):c.125+3G>A
|
rs775577824
|
0.00004
|
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met)
|
rs775999656
|
0.00004
|
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)
|
rs148846795
|
0.00004
|
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)
|
rs386833744
|
0.00004
|
NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)
|
rs771305783
|
0.00003
|
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu)
|
rs376907245
|
0.00003
|
NM_001042432.2(CLN3):c.1087G>A (p.Val363Met)
|
rs370963882
|
0.00003
|
NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)
|
rs764585366
|
0.00003
|
NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val)
|
rs146124686
|
0.00003
|
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)
|
rs778225078
|
0.00003
|
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)
|
rs769840061
|
0.00003
|
NM_001042432.2(CLN3):c.295-2A>C
|
rs1478660606
|
0.00003
|
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser)
|
rs149095062
|
0.00003
|
NM_001042432.2(CLN3):c.461-3C>A
|
rs181995380
|
0.00003
|
NM_001042432.2(CLN3):c.47-3C>T
|
rs377583228
|
0.00003
|
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr)
|
rs1328657534
|
0.00003
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001042432.2(CLN3):c.*187G>A
|
rs867117606
|
0.00002
|
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.240G>A (p.Thr80=)
|
rs373911322
|
0.00002
|
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln)
|
rs780776829
|
0.00002
|
NM_001042432.2(CLN3):c.447G>T (p.Gly149=)
|
rs779918787
|
0.00002
|
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)
|
rs764881080
|
0.00002
|
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp)
|
rs113041302
|
0.00002
|
NM_001042432.1(CLN3):c.-364C>T
|
rs1422231105
|
0.00001
|
NM_001042432.2(CLN3):c.*205G>A
|
rs757923800
|
0.00001
|
NM_001042432.2(CLN3):c.*58A>C
|
rs142958639
|
0.00001
|
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His)
|
rs557870972
|
0.00001
|
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser)
|
rs150986176
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042432.2(CLN3):c.1225A>G (p.Met409Val)
|
rs776443981
|
0.00001
|
NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala)
|
rs1064795206
|
0.00001
|
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)
|
rs386833703
|
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.152C>T (p.Ser51Phe)
|
rs780151271
|
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.266G>A (p.Arg89Gln)
|
rs766287694
|
0.00001
|
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val)
|
rs760039703
|
0.00001
|
NM_001042432.2(CLN3):c.309G>A (p.Ala103=)
|
rs774996613
|
0.00001
|
NM_001042432.2(CLN3):c.327C>T (p.Leu109=)
|
rs748293490
|
0.00001
|
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)
|
rs201168980
|
0.00001
|
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr)
|
rs371590088
|
0.00001
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)
|
rs779304920
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro)
|
rs386833723
|
0.00001
|
NM_001042432.2(CLN3):c.538G>A (p.Val180Met)
|
rs202215629
|
0.00001
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln)
|
rs781613318
|
0.00001
|
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr)
|
rs745948575
|
0.00001
|
NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys)
|
rs771303379
|
0.00001
|
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)
|
rs199627744
|
0.00001
|
NM_001042432.2(CLN3):c.791-7C>A
|
rs942972881
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042432.2(CLN3):c.906+2T>A
|
rs771788391
|
0.00001
|
NM_001042432.2(CLN3):c.941G>A (p.Ser314Asn)
|
rs769358990
|
0.00001
|
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)
|
rs796052335
|
0.00001
|
NM_001042432.2(CLN3):c.962+3A>T
|
rs796052336
|
0.00001
|
NM_001042432.2(CLN3):c.963-1G>A
|
rs386833742
|
0.00001
|
GRCh37/hg19 16p11.2(chr16:28497668-28497971)
|
|
|
GRCh37/hg19 16p11.2(chr16:28497668-28497972)
|
|
|
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
|
|
|
NC_000016.10:g.(28485964_28486930)del
|
|
|
NG_008654.2:g.(13298_14630)_(15199_19425)del
|
|
|
NG_008654.2:g.(9848_10812)_(19800_19939)del
|
|
|
NM_001042432.1(CLN3):c.-210G>T
|
rs2046326373
|
|
NM_001042432.1(CLN3):c.-218G>A
|
rs886051874
|
|
NM_001042432.1(CLN3):c.-279G>C
|
rs1232959828
|
|
NM_001042432.2(CLN3):c.*111G>T
|
rs2046010035
|
|
NM_001042432.2(CLN3):c.-112C>T
|
rs572212180
|
|
NM_001042432.2(CLN3):c.-1G>T
|
rs201274333
|
|
NM_001042432.2(CLN3):c.-77+14G>T
|
rs886051873
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)
|
|
|
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)
|
rs386833696
|
|
NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)
|
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)
|
rs386833699
|
|
NM_001042432.2(CLN3):c.1057-14C>A
|
rs773692029
|
|
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.1067dup (p.Val357fs)
|
rs1555467473
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)
|
rs2046022965
|
|
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
|
|
|
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter)
|
rs142456044
|
|
NM_001042432.2(CLN3):c.1127del (p.Leu376fs)
|
rs2046022108
|
|
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)
|
rs386833701
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.125+1G>C
|
rs775616181
|
|
NM_001042432.2(CLN3):c.125+1del
|
rs1555469452
|
|
NM_001042432.2(CLN3):c.125+2T>C
|
|
|
NM_001042432.2(CLN3):c.126-1G>A
|
rs386833705
|
|
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)
|
rs386833706
|
|
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
|
|
|
NM_001042432.2(CLN3):c.1272del (p.Leu425fs)
|
rs386833707
|
|
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)
|
rs1433950864
|
|
NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys)
|
rs571216643
|
|
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
|
|
|
NM_001042432.2(CLN3):c.195dup (p.Lys66fs)
|
rs1555469159
|
|
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)
|
rs386833708
|
|
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)
|
rs769840061
|
|
NM_001042432.2(CLN3):c.222+2T>G
|
rs386833710
|
|
NM_001042432.2(CLN3):c.222+3A>T
|
|
|
NM_001042432.2(CLN3):c.222+5G>C
|
rs386833711
|
|
NM_001042432.2(CLN3):c.223-1G>A
|
rs1555469089
|
|
NM_001042432.2(CLN3):c.223-8C>T
|
rs973448262
|
|
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)
|
rs386833712
|
|
NM_001042432.2(CLN3):c.240del (p.Pro81fs)
|
rs748710466
|
|
NM_001042432.2(CLN3):c.250del (p.His84fs)
|
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)
|
|
|
NM_001042432.2(CLN3):c.281_282del (p.Ser94fs)
|
rs1057517215
|
|
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr)
|
rs777625354
|
|
NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro)
|
rs386833714
|
|
NM_001042432.2(CLN3):c.317T>A (p.Leu106His)
|
rs2046245840
|
|
NM_001042432.2(CLN3):c.354_355insG (p.Leu119fs)
|
|
|
NM_001042432.2(CLN3):c.363dup (p.Leu122fs)
|
|
|
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)
|
rs386833715
|
|
NM_001042432.2(CLN3):c.371_372insT (p.Ser125fs)
|
rs587779397
|
|
NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)
|
|
|
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn)
|
rs386833716
|
|
NM_001042432.2(CLN3):c.375-2del
|
|
|
NM_001042432.2(CLN3):c.378_379dup (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.379del (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.379dup (p.Arg127fs)
|
|
|
NM_001042432.2(CLN3):c.382dup (p.Val128fs)
|
rs2141714554
|
|
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg)
|
rs386833719
|
|
NM_001042432.2(CLN3):c.419del (p.Val140fs)
|
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.46+1G>A
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.46+1G>C
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.460+376_677+388del
|
|
|
NM_001042432.2(CLN3):c.461-13G>C
|
rs386833721
|
|
NM_001042432.2(CLN3):c.461-1G>A
|
rs386833722
|
|
NM_001042432.2(CLN3):c.461-1G>C
|
rs386833722
|
|
NM_001042432.2(CLN3):c.461-279_677+384del
|
rs1555468632
|
|
NM_001042432.2(CLN3):c.461-280_677+382del
|
rs1555468634
|
|
NM_001042432.2(CLN3):c.461-3C>G
|
rs181995380
|
|
NM_001042432.2(CLN3):c.461-3C>T
|
rs181995380
|
|
NM_001042432.2(CLN3):c.467del (p.Val156fs)
|
|
|
NM_001042432.2(CLN3):c.47-2del
|
|
|
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr)
|
rs386833723
|
|
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter)
|
rs386833724
|
|
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)
|
rs386833725
|
|
NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter)
|
rs386833726
|
|
NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro)
|
rs386833727
|
|
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)
|
rs1401497994
|
|
NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)
|
|
|
NM_001042432.2(CLN3):c.533+1G>A
|
rs386833728
|
|
NM_001042432.2(CLN3):c.533+1G>C
|
rs386833728
|
|
NM_001042432.2(CLN3):c.534-2A>G
|
rs2046221354
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.555del (p.Ser186fs)
|
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala)
|
rs386833730
|
|
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.569del (p.Gly190fs)
|
rs386833732
|
|
NM_001042432.2(CLN3):c.569dup (p.Ala191fs)
|
rs386833732
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.586dup (p.Ala196fs)
|
rs386833735
|
|
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
|
rs267606737
|
|
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
|
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
NM_001042432.2(CLN3):c.639del (p.Leu214fs)
|
rs2046218391
|
|
NM_001042432.2(CLN3):c.677+1G>T
|
rs1057517287
|
|
NM_001042432.2(CLN3):c.678-1_680del
|
|
|
NM_001042432.2(CLN3):c.683dup (p.Leu230fs)
|
rs1057516335
|
|
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)
|
rs796052340
|
|
NM_001042432.2(CLN3):c.734_736del (p.Ala245del)
|
rs776966610
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)
|
rs73533466
|
|
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)
|
rs1064794233
|
|
NM_001042432.2(CLN3):c.790+1del
|
rs1555468374
|
|
NM_001042432.2(CLN3):c.790+2T>C
|
rs1397197980
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042432.2(CLN3):c.790+532_1056+1445del
|
|
|
NM_001042432.2(CLN3):c.791-1G>A
|
rs1057517350
|
|
NM_001042432.2(CLN3):c.816_817del (p.Glu273fs)
|
rs886041546
|
|
NM_001042432.2(CLN3):c.838-3C>G
|
|
|
NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)
|
|
|
NM_001042432.2(CLN3):c.849del (p.Trp283fs)
|
|
|
NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)
|
|
|
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)
|
rs748844685
|
|
NM_001042432.2(CLN3):c.868G>A (p.Val290Ile)
|
rs369008702
|
|
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)
|
rs369008702
|
|
NM_001042432.2(CLN3):c.870A>G (p.Val290=)
|
rs1555468214
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.906+5G>A
|
rs386833739
|
|
NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)
|
|
|
NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)
|
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042432.2(CLN3):c.962+1G>A
|
rs1057516267
|
|
NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter)
|
rs2046112247
|
|
NM_001042432.2(CLN3):c.963-1G>T
|
rs386833742
|
|
NM_001042432.2(CLN3):c.963-2A>C
|
rs1418997146
|
|
NM_001042432.2(CLN3):c.963-63_963-44dup
|
rs1555468153
|
|
NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter)
|
rs386833743
|
|
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)
|
rs386833744
|
|
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
|
rs2046109345
|
|