NM_001042432.2(CLN3):c.294+236A>G
|
rs149282
|
0.98043
|
NM_001042432.2(CLN3):c.294+265A>T
|
rs149281
|
0.93847
|
NM_001042432.2(CLN3):c.1057-148A>G
|
rs34839
|
0.48008
|
NM_001042432.2(CLN3):c.295-229T>C
|
rs34835
|
0.36719
|
NM_001042432.2(CLN3):c.1057-144C>T
|
rs28374519
|
0.33844
|
NM_001042432.2(CLN3):c.678-313G>A
|
rs151182
|
0.31813
|
NM_001042432.2(CLN3):c.294+253T>A
|
rs149301
|
0.29597
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_001042432.2(CLN3):c.-77+85G>A
|
rs28612835
|
0.04930
|
NM_001042432.2(CLN3):c.46+63A>G
|
rs28545628
|
0.04650
|
NM_001042432.2(CLN3):c.1056+140G>A
|
rs143833407
|
0.02751
|
NC_000016.10:g.28492377T>C
|
rs867543183
|
0.02499
|
NM_001042432.2(CLN3):c.295-59G>A
|
rs79077329
|
0.02245
|
NM_001042432.2(CLN3):c.47-60C>G
|
rs111404007
|
0.01636
|
NM_001042432.2(CLN3):c.678-336A>T
|
rs142804308
|
0.01619
|
NM_001042432.2(CLN3):c.677+147C>G
|
rs56695328
|
0.01496
|
NM_001042432.2(CLN3):c.1057-55C>T
|
rs74016815
|
0.01495
|
NM_001042432.2(CLN3):c.294+286A>G
|
rs141294620
|
0.01319
|
NM_001042432.2(CLN3):c.-105T>A
|
rs73533476
|
0.01287
|
NM_001042432.2(CLN3):c.295-127C>T
|
rs28452476
|
0.01175
|
NM_001042432.2(CLN3):c.126-211A>T
|
rs148584815
|
0.01173
|
NM_001042432.2(CLN3):c.125+49A>G
|
rs113317066
|
0.01075
|
NM_001042432.2(CLN3):c.294+265_294+266insT
|
rs1161119178
|
0.00984
|
NM_001042432.2(CLN3):c.*155A>C
|
rs113112766
|
0.00886
|
NM_001042432.2(CLN3):c.294+251A>T
|
rs551219084
|
0.00868
|
NM_001042432.2(CLN3):c.677+201G>A
|
rs149693277
|
0.00861
|
NM_001042432.2(CLN3):c.*99C>T
|
rs113845299
|
0.00853
|
NM_001042432.2(CLN3):c.790+168C>T
|
rs112746997
|
0.00853
|
NM_001042432.2(CLN3):c.1057-302A>G
|
rs141326377
|
0.00852
|
NM_001042432.2(CLN3):c.791-112G>T
|
rs111351669
|
0.00849
|
NM_001042432.2(CLN3):c.771G>A (p.Glu257=)
|
rs73533466
|
0.00402
|
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.838-35C>G
|
rs146839771
|
0.00215
|
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.963-16C>G
|
rs200023908
|
0.00051
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001042432.2(CLN3):c.-76-14G>A
|
rs368542813
|
0.00044
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001042432.2(CLN3):c.678-18C>A
|
rs370158185
|
0.00031
|
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.790+16C>A
|
rs200731769
|
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.174C>T (p.Ala58=)
|
rs138433617
|
0.00014
|
NM_001042432.2(CLN3):c.1022G>A (p.Arg341His)
|
rs201271341
|
0.00011
|
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.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.1197+13C>T
|
rs370103287
|
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.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.975G>A (p.Leu325=)
|
rs150174473
|
0.00005
|
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.264A>C (p.Ser88=)
|
rs751321507
|
0.00004
|
NM_001042432.2(CLN3):c.295-17C>T
|
rs375311626
|
0.00004
|
NM_001042432.2(CLN3):c.304C>T (p.Leu102=)
|
rs1167562278
|
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.-33C>A
|
rs368494637
|
0.00003
|
NM_001042432.2(CLN3):c.-90T>C
|
rs1362294732
|
0.00003
|
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.1167C>T (p.Tyr389=)
|
rs371025471
|
0.00003
|
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)
|
rs778225078
|
0.00003
|
NM_001042432.2(CLN3):c.180C>T (p.His60=)
|
rs150120797
|
0.00003
|
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)
|
rs769840061
|
0.00003
|
NM_001042432.2(CLN3):c.46+13G>A
|
rs532377265
|
0.00003
|
NM_001042432.2(CLN3):c.461-3C>A
|
rs181995380
|
0.00003
|
NM_001042432.2(CLN3):c.69C>T (p.Pro23=)
|
rs754235288
|
0.00003
|
NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser)
|
rs796052341
|
0.00003
|
NM_001042432.2(CLN3):c.-93T>G
|
rs1050754043
|
0.00002
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
NM_001042432.2(CLN3):c.1056+8A>C
|
rs991918245
|
0.00002
|
NM_001042432.2(CLN3):c.1135C>T (p.Leu379=)
|
rs890026046
|
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.243G>A (p.Pro81=)
|
rs779165392
|
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.693C>T (p.Leu231=)
|
rs376590377
|
0.00002
|
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp)
|
rs113041302
|
0.00002
|
NM_001042432.2(CLN3):c.-76-4G>T
|
rs796052334
|
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.1198-14C>G
|
rs757911107
|
0.00001
|
NM_001042432.2(CLN3):c.1200C>T (p.Thr400=)
|
rs754270222
|
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.1309C>T (p.Leu437Phe)
|
rs1085307617
|
0.00001
|
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe)
|
rs780151271
|
0.00001
|
NM_001042432.2(CLN3):c.207G>A (p.Ser69=)
|
rs551476103
|
0.00001
|
NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)
|
rs766287694
|
0.00001
|
NM_001042432.2(CLN3):c.277A>G (p.Asn93Asp)
|
rs761369095
|
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.33T>C (p.Phe11=)
|
rs1555469504
|
0.00001
|
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)
|
rs779304920
|
0.00001
|
NM_001042432.2(CLN3):c.47-11C>A
|
rs561083322
|
0.00001
|
NM_001042432.2(CLN3):c.533+18G>A
|
rs376160790
|
0.00001
|
NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln)
|
rs781613318
|
0.00001
|
NM_001042432.2(CLN3):c.677+19G>A
|
rs367594758
|
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.777G>A (p.Pro259=)
|
rs751443804
|
0.00001
|
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)
|
rs199627744
|
0.00001
|
NM_001042432.2(CLN3):c.837+12G>A
|
rs763812265
|
0.00001
|
NM_001042432.2(CLN3):c.882C>T (p.Ala294=)
|
rs766972077
|
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
|
GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1
|
|
|
NC_000016.10:g.28492395_28492396dup
|
rs764760757
|
|
NC_000016.10:g.28492396del
|
rs764760757
|
|
NC_000016.10:g.28492396dup
|
rs764760757
|
|
NM_001042432.1(CLN3):c.-376_-371delTGAAGC
|
rs72224211
|
|
NM_001042432.2(CLN3):c.-17G>A
|
rs770428655
|
|
NM_001042432.2(CLN3):c.-1G>T
|
rs201274333
|
|
NM_001042432.2(CLN3):c.-3G>A
|
|
|
NM_001042432.2(CLN3):c.-77+12A>C
|
rs1555469548
|
|
NM_001042432.2(CLN3):c.-91C>G
|
rs946396606
|
|
NM_001042432.2(CLN3):c.1004C>A (p.Ser335Tyr)
|
rs765157752
|
|
NM_001042432.2(CLN3):c.1056+102dup
|
rs371817940
|
|
NM_001042432.2(CLN3):c.1056+118del
|
rs371817940
|
|
NM_001042432.2(CLN3):c.1057-11C>T
|
rs189498501
|
|
NM_001042432.2(CLN3):c.1057-22dup
|
rs148146139
|
|
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)
|
rs386833700
|
|
NM_001042432.2(CLN3):c.1117C>G (p.Leu373Val)
|
rs752700529
|
|
NM_001042432.2(CLN3):c.1150C>T (p.Leu384=)
|
rs1057521416
|
|
NM_001042432.2(CLN3):c.1197+13C>A
|
rs370103287
|
|
NM_001042432.2(CLN3):c.1197+8T>C
|
rs587780895
|
|
NM_001042432.2(CLN3):c.1198-17G>A
|
rs749612121
|
|
NM_001042432.2(CLN3):c.1205A>G (p.Asp402Gly)
|
rs1289559935
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr)
|
rs146610181
|
|
NM_001042432.2(CLN3):c.1213C>A (p.Arg405=)
|
rs139842473
|
|
NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer)
|
rs1064795153
|
|
NM_001042432.2(CLN3):c.222+9CT[2]
|
rs1064794997
|
|
NM_001042432.2(CLN3):c.240del (p.Pro81fs)
|
rs748710466
|
|
NM_001042432.2(CLN3):c.270T>C (p.Phe90=)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu)
|
rs145520962
|
|
NM_001042432.2(CLN3):c.288T>A (p.Ser96=)
|
rs1555469051
|
|
NM_001042432.2(CLN3):c.294+266_294+267del
|
rs367752281
|
|
NM_001042432.2(CLN3):c.294+5G>T
|
rs780921389
|
|
NM_001042432.2(CLN3):c.295-13T>A
|
rs796052333
|
|
NM_001042432.2(CLN3):c.295-17C>G
|
rs375311626
|
|
NM_001042432.2(CLN3):c.375-19_375-4dup
|
rs755313503
|
|
NM_001042432.2(CLN3):c.377C>T (p.Pro126Leu)
|
rs2141714590
|
|
NM_001042432.2(CLN3):c.388G>A (p.Val130Ile)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.414C>T (p.Ser138=)
|
rs772960606
|
|
NM_001042432.2(CLN3):c.461-3C>G
|
rs181995380
|
|
NM_001042432.2(CLN3):c.47-4C>T
|
rs1555469480
|
|
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr)
|
rs386833723
|
|
NM_001042432.2(CLN3):c.534-18C>T
|
rs1310342698
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
NM_001042432.2(CLN3):c.545C>G (p.Ser182Cys)
|
rs2141712549
|
|
NM_001042432.2(CLN3):c.550T>C (p.Trp184Arg)
|
rs2046221058
|
|
NM_001042432.2(CLN3):c.569dup (p.Ala191fs)
|
rs386833732
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.586G>T (p.Ala196Ser)
|
rs796052339
|
|
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
|
rs267606737
|
|
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val)
|
rs754906598
|
|
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.750del (p.Gln251fs)
|
rs1064796502
|
|
NM_001042432.2(CLN3):c.764G>A (p.Arg255Lys)
|
rs1064795604
|
|
NM_001042432.2(CLN3):c.767C>T (p.Thr256Ile)
|
rs1064796298
|
|
NM_001042432.2(CLN3):c.768C>G (p.Thr256=)
|
rs145967477
|
|
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)
|
rs1064794233
|
|
NM_001042432.2(CLN3):c.790+267dup
|
rs755660742
|
|
NM_001042432.2(CLN3):c.790+281_790+292del
|
rs755660742
|
|
NM_001042432.2(CLN3):c.790+288_790+292del
|
rs755660742
|
|
NM_001042432.2(CLN3):c.790+292del
|
rs755660742
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042432.2(CLN3):c.791-6C>T
|
rs1057523421
|
|
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala)
|
rs2141704251
|
|
NM_001042432.2(CLN3):c.816_817del (p.Glu273fs)
|
rs886041546
|
|
NM_001042432.2(CLN3):c.849G>T (p.Trp283Cys)
|
rs1064795226
|
|
NM_001042432.2(CLN3):c.861C>T (p.Pro287=)
|
rs1057524528
|
|
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.87C>A (p.Asp29Glu)
|
rs1131691496
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.899del (p.Gln300fs)
|
rs1596556924
|
|
NM_001042432.2(CLN3):c.907-19del
|
rs749233275
|
|
NM_001042432.2(CLN3):c.950A>G (p.Gln317Arg)
|
rs1215782261
|
|
NM_001042432.2(CLN3):c.963-16C>A
|
rs200023908
|
|
NM_001042432.2(CLN3):c.964T>C (p.Tyr322His)
|
rs2141702890
|
|
NM_001042432.2(CLN3):c.976T>C (p.Tyr326His)
|
rs796052337
|
|