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.*55C>A
|
rs199979207
|
0.00065
|
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.537C>T (p.Ala179=)
|
rs147667964
|
0.00016
|
NM_001042432.2(CLN3):c.1027C>T (p.Arg343Cys)
|
rs201407601
|
0.00015
|
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.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.*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.291G>A (p.Thr97=)
|
rs367945307
|
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.1229C>T (p.Ala410Val)
|
rs369801432
|
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.223-5A>G
|
rs1210022838
|
0.00006
|
NM_001042432.2(CLN3):c.244A>T (p.Ile82Phe)
|
rs370020452
|
0.00006
|
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met)
|
rs376421578
|
0.00006
|
NM_001042432.2(CLN3):c.677+18G>A
|
rs200503055
|
0.00006
|
NM_001042432.2(CLN3):c.101A>G (p.His34Arg)
|
rs759668300
|
0.00005
|
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=)
|
rs145340637
|
0.00005
|
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.519T>C (p.Thr173=)
|
rs983162408
|
0.00005
|
NM_001042432.2(CLN3):c.615C>T (p.Ala205=)
|
rs145631076
|
0.00005
|
NM_001042432.2(CLN3):c.626C>T (p.Pro209Leu)
|
rs139417824
|
0.00005
|
NM_001042432.2(CLN3):c.84G>A (p.Leu28=)
|
rs1004740919
|
0.00005
|
NM_001042432.2(CLN3):c.975G>A (p.Leu325=)
|
rs150174473
|
0.00005
|
NM_001042432.2(CLN3):c.*29A>G
|
rs778438984
|
0.00004
|
NM_001042432.2(CLN3):c.-2C>G
|
rs747169563
|
0.00004
|
NM_001042432.2(CLN3):c.1002C>T (p.Arg334=)
|
rs140828382
|
0.00004
|
NM_001042432.2(CLN3):c.1095C>T (p.Phe365=)
|
rs757106140
|
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.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.460+3G>A
|
rs779238243
|
0.00004
|
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)
|
rs148846795
|
0.00004
|
NM_001042432.2(CLN3):c.568G>A (p.Gly190Arg)
|
rs1311480802
|
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.1087G>A (p.Val363Met)
|
rs370963882
|
0.00003
|
NM_001042432.2(CLN3):c.1116C>T (p.Tyr372=)
|
rs142456044
|
0.00003
|
NM_001042432.2(CLN3):c.1167C>T (p.Tyr389=)
|
rs371025471
|
0.00003
|
NM_001042432.2(CLN3):c.1198-5C>T
|
rs764999720
|
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.1269G>A (p.Ser423=)
|
rs200719311
|
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.295-2A>C
|
rs1478660606
|
0.00003
|
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser)
|
rs149095062
|
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.47-3C>T
|
rs377583228
|
0.00003
|
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr)
|
rs1328657534
|
0.00003
|
NM_001042432.2(CLN3):c.677+17C>T
|
rs758724606
|
0.00003
|
NM_001042432.2(CLN3):c.69C>T (p.Pro23=)
|
rs754235288
|
0.00003
|
NM_001042432.2(CLN3):c.837+8T>A
|
rs1364896586
|
0.00003
|
NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser)
|
rs796052341
|
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.-93T>G
|
rs1050754043
|
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.1056+8A>C
|
rs991918245
|
0.00002
|
NM_001042432.2(CLN3):c.1135C>T (p.Leu379=)
|
rs890026046
|
0.00002
|
NM_001042432.2(CLN3):c.1186A>G (p.Ile396Val)
|
rs781253826
|
0.00002
|
NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp)
|
rs1216521924
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001042432.2(CLN3):c.197A>G (p.Lys66Arg)
|
rs769447444
|
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.321C>T (p.Pro107=)
|
rs1223699867
|
0.00002
|
NM_001042432.2(CLN3):c.339G>A (p.Leu113=)
|
rs200356262
|
0.00002
|
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln)
|
rs780776829
|
0.00002
|
NM_001042432.2(CLN3):c.420C>G (p.Val140=)
|
rs544119921
|
0.00002
|
NM_001042432.2(CLN3):c.447G>T (p.Gly149=)
|
rs779918787
|
0.00002
|
NM_001042432.2(CLN3):c.46+18C>T
|
rs2046318191
|
0.00002
|
NM_001042432.2(CLN3):c.460+7G>C
|
rs369389378
|
0.00002
|
NM_001042432.2(CLN3):c.461-10C>T
|
rs768274237
|
0.00002
|
NM_001042432.2(CLN3):c.47-13C>T
|
rs370561457
|
0.00002
|
NM_001042432.2(CLN3):c.47-9C>T
|
rs148898302
|
0.00002
|
NM_001042432.2(CLN3):c.591G>A (p.Leu197=)
|
rs764082661
|
0.00002
|
NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro)
|
rs749609898
|
0.00002
|
NM_001042432.2(CLN3):c.693C>T (p.Leu231=)
|
rs376590377
|
0.00002
|
NM_001042432.2(CLN3):c.741C>T (p.Ser247=)
|
rs148782327
|
0.00002
|
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)
|
rs764881080
|
0.00002
|
NM_001042432.2(CLN3):c.749G>A (p.Arg250Gln)
|
rs374217931
|
0.00002
|
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp)
|
rs113041302
|
0.00002
|
NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln)
|
rs145270402
|
0.00002
|
NM_001042432.2(CLN3):c.946G>A (p.Ala316Thr)
|
rs780974004
|
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.-76-4G>T
|
rs796052334
|
0.00001
|
NM_001042432.2(CLN3):c.1005T>C (p.Ser335=)
|
rs1188156280
|
0.00001
|
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His)
|
rs557870972
|
0.00001
|
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp)
|
rs768479701
|
0.00001
|
NM_001042432.2(CLN3):c.1021C>T (p.Arg341Cys)
|
rs775195638
|
0.00001
|
NM_001042432.2(CLN3):c.102T>C (p.His34=)
|
rs774549218
|
0.00001
|
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser)
|
rs150986176
|
0.00001
|
NM_001042432.2(CLN3):c.1057-16C>T
|
rs771215908
|
0.00001
|
NM_001042432.2(CLN3):c.1057-5C>T
|
rs1266477971
|
0.00001
|
NM_001042432.2(CLN3):c.1066C>T (p.Leu356=)
|
rs1222084100
|
0.00001
|
NM_001042432.2(CLN3):c.1074C>T (p.Phe358=)
|
rs1275580991
|
0.00001
|
NM_001042432.2(CLN3):c.1078C>T (p.Leu360=)
|
rs1232787477
|
0.00001
|
NM_001042432.2(CLN3):c.108G>A (p.Lys36=)
|
rs761453819
|
0.00001
|
NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val)
|
rs147658282
|
0.00001
|
NM_001042432.2(CLN3):c.1152G>C (p.Leu384=)
|
rs762171432
|
0.00001
|
NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr)
|
rs768614719
|
0.00001
|
NM_001042432.2(CLN3):c.1179C>T (p.Phe393=)
|
rs755948129
|
0.00001
|
NM_001042432.2(CLN3):c.1188C>T (p.Ile396=)
|
rs926869261
|
0.00001
|
NM_001042432.2(CLN3):c.1191C>T (p.Ala397=)
|
rs779338007
|
0.00001
|
NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val)
|
rs751114018
|
0.00001
|
NM_001042432.2(CLN3):c.1197+14G>A
|
rs764711492
|
0.00001
|
NM_001042432.2(CLN3):c.1198-14C>G
|
rs757911107
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042432.2(CLN3):c.1200C>T (p.Thr400=)
|
rs754270222
|
0.00001
|
NM_001042432.2(CLN3):c.120C>T (p.Gly40=)
|
rs1457597143
|
0.00001
|
NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln)
|
rs747861558
|
0.00001
|
NM_001042432.2(CLN3):c.1225A>G (p.Met409Val)
|
rs776443981
|
0.00001
|
NM_001042432.2(CLN3):c.1233C>T (p.Ala411=)
|
rs1220767949
|
0.00001
|
NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala)
|
rs1064795206
|
0.00001
|
NM_001042432.2(CLN3):c.1242C>T (p.Ile414=)
|
rs1064886
|
0.00001
|
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)
|
rs386833703
|
0.00001
|
NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala)
|
rs570472210
|
0.00001
|
NM_001042432.2(CLN3):c.125+5G>A
|
rs386833704
|
0.00001
|
NM_001042432.2(CLN3):c.125+6T>C
|
rs745440092
|
0.00001
|
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)
|
rs796052338
|
0.00001
|
NM_001042432.2(CLN3):c.1257G>T (p.Gly419=)
|
rs756893993
|
0.00001
|
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu)
|
rs386833706
|
0.00001
|
NM_001042432.2(CLN3):c.129G>A (p.Leu43=)
|
rs755493834
|
0.00001
|
NM_001042432.2(CLN3):c.1309C>T (p.Leu437Phe)
|
rs1085307617
|
0.00001
|
NM_001042432.2(CLN3):c.144C>T (p.Asn48=)
|
rs1289753739
|
0.00001
|
NM_001042432.2(CLN3):c.146A>G (p.Asn49Ser)
|
rs1474384057
|
0.00001
|
NM_001042432.2(CLN3):c.147C>T (p.Asn49=)
|
rs571216643
|
0.00001
|
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe)
|
rs780151271
|
0.00001
|
NM_001042432.2(CLN3):c.181G>A (p.Asp61Asn)
|
rs772851701
|
0.00001
|
NM_001042432.2(CLN3):c.196A>G (p.Lys66Glu)
|
rs963189449
|
0.00001
|
NM_001042432.2(CLN3):c.1A>G (p.Met1Val)
|
rs386833708
|
0.00001
|
NM_001042432.2(CLN3):c.207G>A (p.Ser69=)
|
rs551476103
|
0.00001
|
NM_001042432.2(CLN3):c.209G>A (p.Gly70Glu)
|
rs747526330
|
0.00001
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
NM_001042432.2(CLN3):c.223-10C>T
|
rs1467517533
|
0.00001
|
NM_001042432.2(CLN3):c.223-3T>C
|
rs776314679
|
0.00001
|
NM_001042432.2(CLN3):c.253A>C (p.Asn85His)
|
rs996285915
|
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.294+12_294+14del
|
rs777491825
|
0.00001
|
NM_001042432.2(CLN3):c.294+5G>A
|
rs780921389
|
0.00001
|
NM_001042432.2(CLN3):c.295-3C>T
|
rs767755377
|
0.00001
|
NM_001042432.2(CLN3):c.298G>C (p.Val100Leu)
|
rs1478662819
|
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.328G>A (p.Val110Ile)
|
rs781534624
|
0.00001
|
NM_001042432.2(CLN3):c.331A>G (p.Ile111Val)
|
rs1331033517
|
0.00001
|
NM_001042432.2(CLN3):c.33T>C (p.Phe11=)
|
rs1555469504
|
0.00001
|
NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp)
|
rs753305901
|
0.00001
|
NM_001042432.2(CLN3):c.374+9G>A
|
rs766949077
|
0.00001
|
NM_001042432.2(CLN3):c.375-10A>G
|
rs1282980213
|
0.00001
|
NM_001042432.2(CLN3):c.375-6C>G
|
rs780653906
|
0.00001
|
NM_001042432.2(CLN3):c.375-7C>T
|
rs1224517800
|
0.00001
|
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)
|
rs201168980
|
0.00001
|
NM_001042432.2(CLN3):c.381G>C (p.Arg127=)
|
rs750889321
|
0.00001
|
NM_001042432.2(CLN3):c.387C>T (p.Leu129=)
|
rs765776873
|
0.00001
|
NM_001042432.2(CLN3):c.397A>G (p.Ile133Val)
|
rs1295659689
|
0.00001
|
NM_001042432.2(CLN3):c.399T>C (p.Ile133=)
|
rs775739498
|
0.00001
|
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr)
|
rs371590088
|
0.00001
|
NM_001042432.2(CLN3):c.437A>G (p.His146Arg)
|
rs1197989757
|
0.00001
|
NM_001042432.2(CLN3):c.461-16C>T
|
rs753816100
|
0.00001
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
NM_001042432.2(CLN3):c.461-4C>A
|
rs1006236175
|
0.00001
|
NM_001042432.2(CLN3):c.461-4C>T
|
rs1006236175
|
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.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.47-7C>T
|
rs776361372
|
0.00001
|
NM_001042432.2(CLN3):c.471C>T (p.Phe157=)
|
rs140670783
|
0.00001
|
NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro)
|
rs386833723
|
0.00001
|
NM_001042432.2(CLN3):c.533+10T>G
|
rs1447196278
|
0.00001
|
NM_001042432.2(CLN3):c.533+18G>A
|
rs376160790
|
0.00001
|
NM_001042432.2(CLN3):c.538G>A (p.Val180Met)
|
rs202215629
|
0.00001
|
NM_001042432.2(CLN3):c.543C>T (p.Ile181=)
|
rs2046221104
|
0.00001
|
NM_001042432.2(CLN3):c.558A>G (p.Ser186=)
|
rs1270038866
|
0.00001
|
NM_001042432.2(CLN3):c.576G>A (p.Gly192=)
|
rs566516380
|
0.00001
|
NM_001042432.2(CLN3):c.621C>G (p.Leu207=)
|
rs1596561484
|
0.00001
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
NM_001042432.2(CLN3):c.634A>G (p.Thr212Ala)
|
rs1335425316
|
0.00001
|
NM_001042432.2(CLN3):c.647T>A (p.Met216Lys)
|
rs773602052
|
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.678-19G>A
|
rs770134980
|
0.00001
|
NM_001042432.2(CLN3):c.67C>T (p.Pro23Ser)
|
rs757558651
|
0.00001
|
NM_001042432.2(CLN3):c.685T>C (p.Leu229=)
|
rs779965094
|
0.00001
|
NM_001042432.2(CLN3):c.687G>A (p.Leu229=)
|
rs772327361
|
0.00001
|
NM_001042432.2(CLN3):c.740G>A (p.Ser247Asn)
|
rs1295758958
|
0.00001
|
NM_001042432.2(CLN3):c.742G>A (p.Ala248Thr)
|
rs750008067
|
0.00001
|
NM_001042432.2(CLN3):c.752A>C (p.Gln251Pro)
|
rs776890506
|
0.00001
|
NM_001042432.2(CLN3):c.757C>G (p.Leu253Val)
|
rs776122422
|
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.773C>T (p.Ala258Val)
|
rs780823167
|
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.783G>A (p.Ser261=)
|
rs752632879
|
0.00001
|
NM_001042432.2(CLN3):c.790+9C>T
|
rs1220855528
|
0.00001
|
NM_001042432.2(CLN3):c.791-7C>A
|
rs942972881
|
0.00001
|
NM_001042432.2(CLN3):c.7G>C (p.Gly3Arg)
|
rs1398814860
|
0.00001
|
NM_001042432.2(CLN3):c.837+12G>A
|
rs763812265
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042432.2(CLN3):c.850T>C (p.Tyr284His)
|
rs201090501
|
0.00001
|
NM_001042432.2(CLN3):c.860C>T (p.Pro287Leu)
|
rs1262182257
|
0.00001
|
NM_001042432.2(CLN3):c.871G>C (p.Val291Leu)
|
rs1218676230
|
0.00001
|
NM_001042432.2(CLN3):c.875A>G (p.Tyr292Cys)
|
rs755402909
|
0.00001
|
NM_001042432.2(CLN3):c.882C>T (p.Ala294=)
|
rs766972077
|
0.00001
|
NM_001042432.2(CLN3):c.89A>G (p.His30Arg)
|
rs1399199073
|
0.00001
|
NM_001042432.2(CLN3):c.8G>A (p.Gly3Asp)
|
rs756062000
|
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.945C>T (p.His315=)
|
rs747723206
|
0.00001
|
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)
|
rs796052335
|
0.00001
|
NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys)
|
rs768466445
|
0.00001
|
NM_001042432.2(CLN3):c.962+11C>T
|
rs1419376753
|
0.00001
|
NM_001042432.2(CLN3):c.962+12G>A
|
rs780419236
|
0.00001
|
NM_001042432.2(CLN3):c.962+2T>G
|
rs746674736
|
0.00001
|
NM_001042432.2(CLN3):c.962+3A>T
|
rs796052336
|
0.00001
|
NM_001042432.2(CLN3):c.963-17C>G
|
rs746616613
|
0.00001
|
NM_001042432.2(CLN3):c.963-1G>A
|
rs386833742
|
0.00001
|
NM_001042432.2(CLN3):c.987C>T (p.Gly329=)
|
rs777779035
|
0.00001
|
NM_001042432.2(CLN3):c.999C>A (p.Ser333=)
|
rs1312281174
|
0.00001
|
NM_001042432.2(CLN3):c.99G>T (p.Ala33=)
|
rs1342527040
|
0.00001
|
GRCh37/hg19 16p11.2(chr16:28497668-28497971)
|
|
|
GRCh37/hg19 16p11.2(chr16:28497668-28497971)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:28497668-28497972)
|
|
|
GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1
|
|
|
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
|
|
|
NC_000016.10:g.(28485964_28486930)del
|
|
|
NC_000016.10:g.(?_28475343)_(28477877_?)dup
|
|
|
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_000016.10:g.28492395_28492396dup
|
rs764760757
|
|
NC_000016.10:g.28492396del
|
rs764760757
|
|
NC_000016.10:g.28492396dup
|
rs764760757
|
|
NC_000016.9:g.(?_28484798)_28497560del
|
|
|
NC_000016.9:g.(?_28486664)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28486664)_(28503100_?)dup
|
|
|
NC_000016.9:g.(?_28488599)_(28495440_28497667)del
|
|
|
NC_000016.9:g.(?_28488817)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28488827)_(28489208_?)del
|
|
|
NC_000016.9:g.(?_28488837)_(28489218_?)dup
|
|
|
NC_000016.9:g.(?_28488837)_(28495459_?)del
|
|
|
NC_000016.9:g.(?_28488837)_(28495459_?)dup
|
|
|
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.(?_28499892)_(28503100_?)dup
|
|
|
NC_000016.9:g.(?_28499902)_(28503090_?)dup
|
|
|
NC_000016.9:g.(?_28502803)_(28503080_?)del
|
|
|
NG_008654.2:g.(13298_14630)_(15199_19425)del
|
|
|
NG_008654.2:g.(9848_10812)_(19800_19939)del
|
|
|
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)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_001042432.1(CLN3):c.-376_-371delTGAAGC
|
rs72224211
|
|
NM_001042432.2(CLN3):c.*111G>T
|
rs2046010035
|
|
NM_001042432.2(CLN3):c.-112C>T
|
rs572212180
|
|
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.-77+14G>T
|
rs886051873
|
|
NM_001042432.2(CLN3):c.-91C>G
|
rs946396606
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1003T>C (p.Ser335Pro)
|
rs1567257016
|
|
NM_001042432.2(CLN3):c.1004C>A (p.Ser335Tyr)
|
rs765157752
|
|
NM_001042432.2(CLN3):c.1017C>T (p.Cys339=)
|
rs768479701
|
|
NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr)
|
rs1174122334
|
|
NM_001042432.2(CLN3):c.101A>T (p.His34Leu)
|
|
|
NM_001042432.2(CLN3):c.1023C>T (p.Arg341=)
|
rs2141702659
|
|
NM_001042432.2(CLN3):c.1032C>T (p.Phe344=)
|
|
|
NM_001042432.2(CLN3):c.1035C>T (p.Thr345=)
|
rs2141702596
|
|
NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)
|
|
|
NM_001042432.2(CLN3):c.1043T>C (p.Leu348Pro)
|
|
|
NM_001042432.2(CLN3):c.1046C>T (p.Ala349Val)
|
rs2141702560
|
|
NM_001042432.2(CLN3):c.1048C>T (p.Leu350=)
|
rs1319505147
|
|
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)
|
rs386833696
|
|
NM_001042432.2(CLN3):c.1050G>C (p.Leu350=)
|
|
|
NM_001042432.2(CLN3):c.1050_1056+19del
|
|
|
NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)
|
|
|
NM_001042432.2(CLN3):c.1056+102dup
|
rs371817940
|
|
NM_001042432.2(CLN3):c.1056+10C>G
|
rs2141702486
|
|
NM_001042432.2(CLN3):c.1056+118del
|
rs371817940
|
|
NM_001042432.2(CLN3):c.1056+12C>G
|
|
|
NM_001042432.2(CLN3):c.1056+16C>A
|
|
|
NM_001042432.2(CLN3):c.1056+16C>T
|
|
|
NM_001042432.2(CLN3):c.1056+18C>T
|
|
|
NM_001042432.2(CLN3):c.1056+1G>A
|
|
|
NM_001042432.2(CLN3):c.1056+1G>T
|
rs1217725909
|
|
NM_001042432.2(CLN3):c.1056+20C>T
|
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
NM_001042432.2(CLN3):c.1056+5C>A
|
|
|
NM_001042432.2(CLN3):c.1056+6A>G
|
rs2141702501
|
|
NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)
|
rs386833699
|
|
NM_001042432.2(CLN3):c.1056G>T (p.Gln352His)
|
rs386833699
|
|
NM_001042432.2(CLN3):c.1057-11C>A
|
|
|
NM_001042432.2(CLN3):c.1057-11C>G
|
rs189498501
|
|
NM_001042432.2(CLN3):c.1057-11C>T
|
rs189498501
|
|
NM_001042432.2(CLN3):c.1057-12C>T
|
|
|
NM_001042432.2(CLN3):c.1057-14C>A
|
rs773692029
|
|
NM_001042432.2(CLN3):c.1057-14C>G
|
|
|
NM_001042432.2(CLN3):c.1057-14C>T
|
|
|
NM_001042432.2(CLN3):c.1057-17T>A
|
|
|
NM_001042432.2(CLN3):c.1057-18C>A
|
rs554430803
|
|
NM_001042432.2(CLN3):c.1057-18C>T
|
rs554430803
|
|
NM_001042432.2(CLN3):c.1057-19C>T
|
|
|
NM_001042432.2(CLN3):c.1057-1G>A
|
|
|
NM_001042432.2(CLN3):c.1057-22dup
|
rs148146139
|
|
NM_001042432.2(CLN3):c.1057-2A>G
|
rs1218568487
|
|
NM_001042432.2(CLN3):c.1057-5C>G
|
|
|
NM_001042432.2(CLN3):c.1057-9del
|
rs1288269632
|
|
NM_001042432.2(CLN3):c.1058G>A (p.Cys353Tyr)
|
|
|
NM_001042432.2(CLN3):c.1058G>T (p.Cys353Phe)
|
|
|
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.1065C>T (p.Asn355=)
|
rs1567254120
|
|
NM_001042432.2(CLN3):c.1067dup (p.Val357fs)
|
rs1555467473
|
|
NM_001042432.2(CLN3):c.1069G>T (p.Val357Leu)
|
rs1567254103
|
|
NM_001042432.2(CLN3):c.1071G>A (p.Val357=)
|
|
|
NM_001042432.2(CLN3):c.1071G>T (p.Val357=)
|
rs146467602
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)
|
rs2046022965
|
|
NM_001042432.2(CLN3):c.1086C>T (p.Asp362=)
|
rs376907245
|
|
NM_001042432.2(CLN3):c.1088T>G (p.Val363Gly)
|
|
|
NM_001042432.2(CLN3):c.1089G>T (p.Val363=)
|
rs2141694310
|
|
NM_001042432.2(CLN3):c.1096G>A (p.Gly366Ser)
|
rs772209464
|
|
NM_001042432.2(CLN3):c.1097G>T (p.Gly366Val)
|
rs371214018
|
|
NM_001042432.2(CLN3):c.1099T>C (p.Phe367Leu)
|
|
|
NM_001042432.2(CLN3):c.1107A>C (p.Pro369=)
|
rs2141694275
|
|
NM_001042432.2(CLN3):c.1107A>G (p.Pro369=)
|
|
|
NM_001042432.2(CLN3):c.1108A>G (p.Ser370Gly)
|
rs2141694271
|
|
NM_001042432.2(CLN3):c.1110C>T (p.Ser370=)
|
|
|
NM_001042432.2(CLN3):c.1113C>T (p.Ile371=)
|
rs2141694259
|
|
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
|
|
|
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter)
|
rs142456044
|
|
NM_001042432.2(CLN3):c.1117C>G (p.Leu373Val)
|
rs752700529
|
|
NM_001042432.2(CLN3):c.1117C>T (p.Leu373Phe)
|
|
|
NM_001042432.2(CLN3):c.111C>G (p.Asn37Lys)
|
|
|
NM_001042432.2(CLN3):c.1121T>C (p.Val374Ala)
|
rs1596619733
|
|
NM_001042432.2(CLN3):c.1122C>T (p.Val374=)
|
|
|
NM_001042432.2(CLN3):c.1125C>T (p.Phe375=)
|
|
|
NM_001042432.2(CLN3):c.1126C>T (p.Leu376=)
|
rs2141694207
|
|
NM_001042432.2(CLN3):c.1127del (p.Leu376fs)
|
rs2046022108
|
|
NM_001042432.2(CLN3):c.1128G>A (p.Leu376=)
|
|
|
NM_001042432.2(CLN3):c.1128G>T (p.Leu376=)
|
|
|
NM_001042432.2(CLN3):c.1137G>C (p.Leu379=)
|
|
|
NM_001042432.2(CLN3):c.1138T>C (p.Tyr380His)
|
|
|
NM_001042432.2(CLN3):c.1143G>A (p.Glu381=)
|
|
|
NM_001042432.2(CLN3):c.1146G>T (p.Gly382=)
|
rs1567253962
|
|
NM_001042432.2(CLN3):c.1147C>T (p.Leu383Phe)
|
|
|
NM_001042432.2(CLN3):c.1149C>T (p.Leu383=)
|
rs2046021695
|
|
NM_001042432.2(CLN3):c.114G>A (p.Ala38=)
|
rs1596567632
|
|
NM_001042432.2(CLN3):c.1150C>T (p.Leu384=)
|
rs1057521416
|
|
NM_001042432.2(CLN3):c.1152G>A (p.Leu384=)
|
|
|
NM_001042432.2(CLN3):c.1160C>T (p.Ala387Val)
|
rs2141694140
|
|
NM_001042432.2(CLN3):c.1161A>G (p.Ala387=)
|
rs2141694138
|
|
NM_001042432.2(CLN3):c.1162G>A (p.Ala388Thr)
|
|
|
NM_001042432.2(CLN3):c.1164C>A (p.Ala388=)
|
rs772463617
|
|
NM_001042432.2(CLN3):c.1166A>T (p.Tyr389Phe)
|
|
|
NM_001042432.2(CLN3):c.1168G>C (p.Val390Leu)
|
|
|
NM_001042432.2(CLN3):c.1173C>T (p.Asn391=)
|
rs1334200732
|
|
NM_001042432.2(CLN3):c.1178T>A (p.Phe393Tyr)
|
rs2141694088
|
|
NM_001042432.2(CLN3):c.117G>A (p.Val39=)
|
rs2141721859
|
|
NM_001042432.2(CLN3):c.1181A>G (p.His394Arg)
|
|
|
NM_001042432.2(CLN3):c.1183A>G (p.Asn395Asp)
|
rs2141694073
|
|
NM_001042432.2(CLN3):c.1184A>T (p.Asn395Ile)
|
rs2046020900
|
|
NM_001042432.2(CLN3):c.1185C>T (p.Asn395=)
|
rs747968377
|
|
NM_001042432.2(CLN3):c.1189G>A (p.Ala397Thr)
|
|
|
NM_001042432.2(CLN3):c.1192C>T (p.Leu398=)
|
|
|
NM_001042432.2(CLN3):c.1194G>A (p.Leu398=)
|
|
|
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)
|
rs386833701
|
|
NM_001042432.2(CLN3):c.1197+10G>A
|
rs2141693994
|
|
NM_001042432.2(CLN3):c.1197+11G>T
|
|
|
NM_001042432.2(CLN3):c.1197+13C>A
|
rs370103287
|
|
NM_001042432.2(CLN3):c.1197+13C>G
|
rs370103287
|
|
NM_001042432.2(CLN3):c.1197+15G>T
|
|
|
NM_001042432.2(CLN3):c.1197+16G>A
|
|
|
NM_001042432.2(CLN3):c.1197+17C>G
|
rs2046020001
|
|
NM_001042432.2(CLN3):c.1197+18A>G
|
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.1197+2T>A
|
rs2046020472
|
|
NM_001042432.2(CLN3):c.1197+8T>C
|
rs587780895
|
|
NM_001042432.2(CLN3):c.1198-10G>A
|
rs750043205
|
|
NM_001042432.2(CLN3):c.1198-10G>T
|
rs750043205
|
|
NM_001042432.2(CLN3):c.1198-16C>G
|
|
|
NM_001042432.2(CLN3):c.1198-17G>A
|
rs749612121
|
|
NM_001042432.2(CLN3):c.1198-19C>G
|
|
|
NM_001042432.2(CLN3):c.1198-19C>T
|
|
|
NM_001042432.2(CLN3):c.1198-2A>C
|
rs2141693746
|
|
NM_001042432.2(CLN3):c.1198-3C>T
|
rs2046017696
|
|
NM_001042432.2(CLN3):c.1198-4C>G
|
|
|
NM_001042432.2(CLN3):c.1198-7C>T
|
rs1046047290
|
|
NM_001042432.2(CLN3):c.1198-8C>A
|
|
|
NM_001042432.2(CLN3):c.1198-9C>T
|
rs2141693767
|
|
NM_001042432.2(CLN3):c.1200C>A (p.Thr400=)
|
rs754270222
|
|
NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn)
|
|
|
NM_001042432.2(CLN3):c.1205A>G (p.Asp402Gly)
|
rs1289559935
|
|
NM_001042432.2(CLN3):c.120C>G (p.Gly40=)
|
|
|
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.1215G>C (p.Arg405=)
|
rs2141693673
|
|
NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser)
|
|
|
NM_001042432.2(CLN3):c.1236C>T (p.Thr412=)
|
|
|
NM_001042432.2(CLN3):c.1246_1247dup (p.Asp416fs)
|
|
|
NM_001042432.2(CLN3):c.125+13A>C
|
rs2141721778
|
|
NM_001042432.2(CLN3):c.125+16C>T
|
rs2141721774
|
|
NM_001042432.2(CLN3):c.125+19C>A
|
|
|
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.125+9C>A
|
|
|
NM_001042432.2(CLN3):c.125+9C>G
|
rs770630584
|
|
NM_001042432.2(CLN3):c.1250C>T (p.Thr417Ile)
|
rs1596619244
|
|
NM_001042432.2(CLN3):c.126-11G>A
|
|
|
NM_001042432.2(CLN3):c.126-11G>C
|
|
|
NM_001042432.2(CLN3):c.126-14C>T
|
|
|
NM_001042432.2(CLN3):c.126-16G>A
|
|
|
NM_001042432.2(CLN3):c.126-18C>T
|
|
|
NM_001042432.2(CLN3):c.126-1G>A
|
rs386833705
|
|
NM_001042432.2(CLN3):c.126-4C>A
|
rs1555469191
|
|
NM_001042432.2(CLN3):c.126-9T>C
|
|
|
NM_001042432.2(CLN3):c.1263C>T (p.Ser421=)
|
rs2141693533
|
|
NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro)
|
rs2046014482
|
|
NM_001042432.2(CLN3):c.1266G>A (p.Leu422=)
|
|
|
NM_001042432.2(CLN3):c.1267dup (p.Ser423fs)
|
|
|
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)
|
rs386833706
|
|
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
|
|
|
NM_001042432.2(CLN3):c.1272G>A (p.Gly424=)
|
rs2141693473
|
|
NM_001042432.2(CLN3):c.1272del (p.Leu425fs)
|
rs386833707
|
|
NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val)
|
rs1596619187
|
|
NM_001042432.2(CLN3):c.127C>T (p.Leu43=)
|
rs2141718228
|
|
NM_001042432.2(CLN3):c.1284G>A (p.Leu428=)
|
rs1178380195
|
|
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)
|
rs1433950864
|
|
NM_001042432.2(CLN3):c.1288C>T (p.Leu430=)
|
rs2141693434
|
|
NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr)
|
rs759510380
|
|
NM_001042432.2(CLN3):c.1293T>C (p.His431=)
|
|
|
NM_001042432.2(CLN3):c.1302C>A (p.Leu434=)
|
rs1264449890
|
|
NM_001042432.2(CLN3):c.1316G>A (p.Ter439=)
|
rs2046012606
|
|
NM_001042432.2(CLN3):c.136C>G (p.Leu46Val)
|
|
|
NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer)
|
rs1064795153
|
|
NM_001042432.2(CLN3):c.143A>G (p.Asn48Ser)
|
|
|
NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile)
|
|
|
NM_001042432.2(CLN3):c.145A>C (p.Asn49His)
|
|
|
NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys)
|
rs571216643
|
|
NM_001042432.2(CLN3):c.156T>C (p.Tyr52=)
|
rs758454511
|
|
NM_001042432.2(CLN3):c.159G>A (p.Val53=)
|
rs2046275556
|
|
NM_001042432.2(CLN3):c.15A>T (p.Ala5=)
|
rs2141722763
|
|
NM_001042432.2(CLN3):c.162G>A (p.Val54=)
|
|
|
NM_001042432.2(CLN3):c.162G>T (p.Val54=)
|
|
|
NM_001042432.2(CLN3):c.166C>T (p.Leu56=)
|
|
|
NM_001042432.2(CLN3):c.170G>A (p.Ser57Asn)
|
|
|
NM_001042432.2(CLN3):c.177C>T (p.Ala59=)
|
rs1266595846
|
|
NM_001042432.2(CLN3):c.17del (p.Gly6fs)
|
rs886043242
|
|
NM_001042432.2(CLN3):c.18C>A (p.Gly6=)
|
rs2141722748
|
|
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
|
|
|
NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn)
|
rs2046274351
|
|
NM_001042432.2(CLN3):c.195dup (p.Lys66fs)
|
rs1555469159
|
|
NM_001042432.2(CLN3):c.196A>C (p.Lys66Gln)
|
|
|
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)
|
rs386833708
|
|
NM_001042432.2(CLN3):c.204A>G (p.Thr68=)
|
rs1001999703
|
|
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)
|
rs769840061
|
|
NM_001042432.2(CLN3):c.213C>T (p.Asn71=)
|
rs1460944418
|
|
NM_001042432.2(CLN3):c.214_216del (p.Gln72del)
|
rs1473036975
|
|
NM_001042432.2(CLN3):c.218G>A (p.Ser73Asn)
|
|
|
NM_001042432.2(CLN3):c.21G>C (p.Ser7=)
|
rs1313480778
|
|
NM_001042432.2(CLN3):c.222+11C>G
|
|
|
NM_001042432.2(CLN3):c.222+13C>T
|
|
|
NM_001042432.2(CLN3):c.222+14T>A
|
|
|
NM_001042432.2(CLN3):c.222+17C>T
|
|
|
NM_001042432.2(CLN3):c.222+18A>G
|
|
|
NM_001042432.2(CLN3):c.222+19C>T
|
|
|
NM_001042432.2(CLN3):c.222+1G>A
|
|
|
NM_001042432.2(CLN3):c.222+20C>T
|
|
|
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.222+7G>A
|
|
|
NM_001042432.2(CLN3):c.222+9C>G
|
rs2046272964
|
|
NM_001042432.2(CLN3):c.222+9CT[2]
|
rs1064794997
|
|
NM_001042432.2(CLN3):c.223-10C>G
|
|
|
NM_001042432.2(CLN3):c.223-15C>T
|
|
|
NM_001042432.2(CLN3):c.223-16G>A
|
|
|
NM_001042432.2(CLN3):c.223-18A>G
|
|
|
NM_001042432.2(CLN3):c.223-18A>T
|
|
|
NM_001042432.2(CLN3):c.223-1G>A
|
rs1555469089
|
|
NM_001042432.2(CLN3):c.223-6del
|
|
|
NM_001042432.2(CLN3):c.223-7C>T
|
rs1489180288
|
|
NM_001042432.2(CLN3):c.223-8C>T
|
rs973448262
|
|
NM_001042432.2(CLN3):c.228C>T (p.Asp76=)
|
|
|
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)
|
rs386833712
|
|
NM_001042432.2(CLN3):c.236C>T (p.Pro79Leu)
|
rs1596564333
|
|
NM_001042432.2(CLN3):c.237A>G (p.Pro79=)
|
rs2141717144
|
|
NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala)
|
rs150348015
|
|
NM_001042432.2(CLN3):c.23G>A (p.Arg8Gln)
|
|
|
NM_001042432.2(CLN3):c.240del (p.Pro81fs)
|
rs748710466
|
|
NM_001042432.2(CLN3):c.243G>C (p.Pro81=)
|
rs779165392
|
|
NM_001042432.2(CLN3):c.248C>T (p.Pro83Leu)
|
|
|
NM_001042432.2(CLN3):c.250del (p.His84fs)
|
|
|
NM_001042432.2(CLN3):c.251A>G (p.His84Arg)
|
rs2046262515
|
|
NM_001042432.2(CLN3):c.255C>T (p.Asn85=)
|
rs1173380097
|
|
NM_001042432.2(CLN3):c.258C>T (p.Ser86=)
|
rs1596564281
|
|
NM_001042432.2(CLN3):c.260C>T (p.Ser87Leu)
|
rs2141717001
|
|
NM_001042432.2(CLN3):c.261A>T (p.Ser87=)
|
rs2046262190
|
|
NM_001042432.2(CLN3):c.264A>G (p.Ser88=)
|
rs751321507
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu)
|
rs766287694
|
|
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.273C>T (p.Asp91=)
|
rs1213121886
|
|
NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)
|
|
|
NM_001042432.2(CLN3):c.276C>G (p.Cys92Trp)
|
|
|
NM_001042432.2(CLN3):c.278A>G (p.Asn93Ser)
|
rs140409296
|
|
NM_001042432.2(CLN3):c.281_282del (p.Ser94fs)
|
rs1057517215
|
|
NM_001042432.2(CLN3):c.283G>A (p.Val95Ile)
|
rs763659524
|
|
NM_001042432.2(CLN3):c.288T>A (p.Ser96=)
|
rs1555469051
|
|
NM_001042432.2(CLN3):c.293C>A (p.Ala98Asp)
|
rs1361279384
|
|
NM_001042432.2(CLN3):c.293C>T (p.Ala98Val)
|
|
|
NM_001042432.2(CLN3):c.294+10C>G
|
rs367693072
|
|
NM_001042432.2(CLN3):c.294+10C>T
|
rs367693072
|
|
NM_001042432.2(CLN3):c.294+17C>T
|
|
|
NM_001042432.2(CLN3):c.294+266_294+267del
|
rs367752281
|
|
NM_001042432.2(CLN3):c.294+4C>T
|
|
|
NM_001042432.2(CLN3):c.294+5G>T
|
rs780921389
|
|
NM_001042432.2(CLN3):c.294+7A>G
|
rs2141716762
|
|
NM_001042432.2(CLN3):c.294+8C>T
|
|
|
NM_001042432.2(CLN3):c.294+8_294+10inv
|
|
|
NM_001042432.2(CLN3):c.294+9T>C
|
|
|
NM_001042432.2(CLN3):c.295-12C>T
|
rs2141715293
|
|
NM_001042432.2(CLN3):c.295-13T>A
|
rs796052333
|
|
NM_001042432.2(CLN3):c.295-17C>G
|
rs375311626
|
|
NM_001042432.2(CLN3):c.295-17del
|
|
|
NM_001042432.2(CLN3):c.295-18T>C
|
|
|
NM_001042432.2(CLN3):c.295-19C>T
|
|
|
NM_001042432.2(CLN3):c.295-5C>T
|
|
|
NM_001042432.2(CLN3):c.295-7G>A
|
|
|
NM_001042432.2(CLN3):c.295-7G>T
|
|
|
NM_001042432.2(CLN3):c.29G>A (p.Arg10His)
|
|
|
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.304C>G (p.Leu102Val)
|
rs1167562278
|
|
NM_001042432.2(CLN3):c.306G>A (p.Leu102=)
|
|
|
NM_001042432.2(CLN3):c.307G>A (p.Ala103Thr)
|
|
|
NM_001042432.2(CLN3):c.30del (p.Ser12fs)
|
rs2141722729
|
|
NM_001042432.2(CLN3):c.312C>T (p.Asp104=)
|
rs1596563212
|
|
NM_001042432.2(CLN3):c.313A>T (p.Ile105Phe)
|
|
|
NM_001042432.2(CLN3):c.317T>A (p.Leu106His)
|
rs2046245840
|
|
NM_001042432.2(CLN3):c.317dup (p.Thr108fs)
|
|
|
NM_001042432.2(CLN3):c.320C>G (p.Pro107Arg)
|
|
|
NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu)
|
rs1231056238
|
|
NM_001042432.2(CLN3):c.321C>A (p.Pro107=)
|
|
|
NM_001042432.2(CLN3):c.322A>G (p.Thr108Ala)
|
rs1302804526
|
|
NM_001042432.2(CLN3):c.323C>T (p.Thr108Ile)
|
|
|
NM_001042432.2(CLN3):c.324A>G (p.Thr108=)
|
rs2046245530
|
|
NM_001042432.2(CLN3):c.326T>C (p.Leu109Pro)
|
|
|
NM_001042432.2(CLN3):c.354C>T (p.Gly118=)
|
|
|
NM_001042432.2(CLN3):c.354_355insG (p.Leu119fs)
|
|
|
NM_001042432.2(CLN3):c.358C>A (p.His120Asn)
|
rs145749864
|
|
NM_001042432.2(CLN3):c.358C>T (p.His120Tyr)
|
|
|
NM_001042432.2(CLN3):c.360C>A (p.His120Gln)
|
|
|
NM_001042432.2(CLN3):c.360C>T (p.His120=)
|
|
|
NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg)
|
rs2046244488
|
|
NM_001042432.2(CLN3):c.363dup (p.Leu122fs)
|
|
|
NM_001042432.2(CLN3):c.366G>A (p.Leu122=)
|
|
|
NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser)
|
rs1567261702
|
|
NM_001042432.2(CLN3):c.36G>C (p.Ser12=)
|
|
|
NM_001042432.2(CLN3):c.370del (p.Tyr124fs)
|
rs1555468920
|
|
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.373del (p.Ser125fs)
|
rs1596563048
|
|
NM_001042432.2(CLN3):c.374+14T>C
|
rs528885790
|
|
NM_001042432.2(CLN3):c.374+15A>G
|
rs1160399050
|
|
NM_001042432.2(CLN3):c.374+16G>T
|
rs2141714919
|
|
NM_001042432.2(CLN3):c.374+1G>A
|
rs2046243804
|
|
NM_001042432.2(CLN3):c.374+7G>A
|
rs2141714955
|
|
NM_001042432.2(CLN3):c.374+7G>C
|
rs2141714955
|
|
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn)
|
rs386833716
|
|
NM_001042432.2(CLN3):c.375-11C>A
|
|
|
NM_001042432.2(CLN3):c.375-11C>T
|
rs1039039106
|
|
NM_001042432.2(CLN3):c.375-13C>A
|
rs747701616
|
|
NM_001042432.2(CLN3):c.375-19_375-4dup
|
rs755313503
|
|
NM_001042432.2(CLN3):c.375-2A>T
|
rs2046240661
|
|
NM_001042432.2(CLN3):c.375-2del
|
|
|
NM_001042432.2(CLN3):c.375-4del
|
rs2141714611
|
|
NM_001042432.2(CLN3):c.375-5C>G
|
rs751293136
|
|
NM_001042432.2(CLN3):c.375-5del
|
|
|
NM_001042432.2(CLN3):c.375-5dup
|
|
|
NM_001042432.2(CLN3):c.375-6C>A
|
|
|
NM_001042432.2(CLN3):c.375-8C>T
|
rs2141714646
|
|
NM_001042432.2(CLN3):c.377C>T (p.Pro126Leu)
|
rs2141714590
|
|
NM_001042432.2(CLN3):c.378C>T (p.Pro126=)
|
rs1596562865
|
|
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.37G>T (p.Asp13Tyr)
|
|
|
NM_001042432.2(CLN3):c.382dup (p.Val128fs)
|
rs2141714554
|
|
NM_001042432.2(CLN3):c.386_387delinsCT (p.Leu129Pro)
|
|
|
NM_001042432.2(CLN3):c.388G>A (p.Val130Ile)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.388G>T (p.Val130Phe)
|
rs764261700
|
|
NM_001042432.2(CLN3):c.391A>G (p.Ser131Gly)
|
rs2046239997
|
|
NM_001042432.2(CLN3):c.392del (p.Ser131fs)
|
rs2141714500
|
|
NM_001042432.2(CLN3):c.393T>C (p.Ser131=)
|
rs794727850
|
|
NM_001042432.2(CLN3):c.396G>A (p.Gly132=)
|
|
|
NM_001042432.2(CLN3):c.397A>T (p.Ile133Phe)
|
rs1295659689
|
|
NM_001042432.2(CLN3):c.3G>A (p.Met1Ile)
|
|
|
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg)
|
rs386833719
|
|
NM_001042432.2(CLN3):c.403G>A (p.Ala135Thr)
|
rs1314360861
|
|
NM_001042432.2(CLN3):c.406G>T (p.Ala136Ser)
|
rs2046239467
|
|
NM_001042432.2(CLN3):c.411A>G (p.Gly137=)
|
rs2141714445
|
|
NM_001042432.2(CLN3):c.413del (p.Ser138fs)
|
|
|
NM_001042432.2(CLN3):c.414C>T (p.Ser138=)
|
rs772960606
|
|
NM_001042432.2(CLN3):c.419T>C (p.Val140Ala)
|
|
|
NM_001042432.2(CLN3):c.419del (p.Val140fs)
|
|
|
NM_001042432.2(CLN3):c.41C>T (p.Ser14Phe)
|
rs2141722690
|
|
NM_001042432.2(CLN3):c.420C>A (p.Val140=)
|
|
|
NM_001042432.2(CLN3):c.421C>G (p.Leu141Val)
|
rs2141714404
|
|
NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro)
|
rs2046239033
|
|
NM_001042432.2(CLN3):c.423G>C (p.Leu141=)
|
rs1426849822
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.427G>A (p.Ala143Thr)
|
rs904694610
|
|
NM_001042432.2(CLN3):c.42C>A (p.Ser14=)
|
|
|
NM_001042432.2(CLN3):c.433T>C (p.Ser145Pro)
|
rs780814580
|
|
NM_001042432.2(CLN3):c.439T>G (p.Ser147Ala)
|
rs2141714357
|
|
NM_001042432.2(CLN3):c.43G>A (p.Glu15Lys)
|
|
|
NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter)
|
rs1228953213
|
|
NM_001042432.2(CLN3):c.443_445del (p.Val148del)
|
rs752130042
|
|
NM_001042432.2(CLN3):c.447G>A (p.Gly149=)
|
|
|
NM_001042432.2(CLN3):c.450C>T (p.Thr150=)
|
|
|
NM_001042432.2(CLN3):c.451A>T (p.Ser151Cys)
|
rs2141714276
|
|
NM_001042432.2(CLN3):c.452G>A (p.Ser151Asn)
|
|
|
NM_001042432.2(CLN3):c.458G>A (p.Cys153Tyr)
|
rs750813350
|
|
NM_001042432.2(CLN3):c.46+10C>T
|
rs1596568060
|
|
NM_001042432.2(CLN3):c.46+11C>G
|
|
|
NM_001042432.2(CLN3):c.46+11C>T
|
rs1274196955
|
|
NM_001042432.2(CLN3):c.46+12C>A
|
|
|
NM_001042432.2(CLN3):c.46+12C>T
|
|
|
NM_001042432.2(CLN3):c.46+13G>T
|
rs532377265
|
|
NM_001042432.2(CLN3):c.46+14C>T
|
|
|
NM_001042432.2(CLN3):c.46+15C>T
|
|
|
NM_001042432.2(CLN3):c.46+16C>A
|
|
|
NM_001042432.2(CLN3):c.46+16C>T
|
|
|
NM_001042432.2(CLN3):c.46+1G>A
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.46+1G>C
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.46+5G>A
|
|
|
NM_001042432.2(CLN3):c.46+7A>G
|
rs2141722628
|
|
NM_001042432.2(CLN3):c.46+9T>C
|
|
|
NM_001042432.2(CLN3):c.460+10T>C
|
|
|
NM_001042432.2(CLN3):c.460+12G>A
|
|
|
NM_001042432.2(CLN3):c.460+12G>C
|
|
|
NM_001042432.2(CLN3):c.460+12G>T
|
|
|
NM_001042432.2(CLN3):c.460+16T>C
|
|
|
NM_001042432.2(CLN3):c.460+17G>A
|
|
|
NM_001042432.2(CLN3):c.460+1G>A
|
rs1397086223
|
|
NM_001042432.2(CLN3):c.460+20T>A
|
|
|
NM_001042432.2(CLN3):c.460+2T>G
|
|
|
NM_001042432.2(CLN3):c.460+376_677+388del
|
|
|
NM_001042432.2(CLN3):c.460+7G>A
|
|
|
NM_001042432.2(CLN3):c.460+9G>A
|
rs2141714258
|
|
NM_001042432.2(CLN3):c.461-11C>G
|
|
|
NM_001042432.2(CLN3):c.461-13G>C
|
rs386833721
|
|
NM_001042432.2(CLN3):c.461-19G>C
|
|
|
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.461-2A>G
|
|
|
NM_001042432.2(CLN3):c.461-3C>G
|
rs181995380
|
|
NM_001042432.2(CLN3):c.461-3C>T
|
rs181995380
|
|
NM_001042432.2(CLN3):c.461-3del
|
rs766754807
|
|
NM_001042432.2(CLN3):c.461-3dup
|
|
|
NM_001042432.2(CLN3):c.461-4C>G
|
rs1006236175
|
|
NM_001042432.2(CLN3):c.461-5C>G
|
rs779793979
|
|
NM_001042432.2(CLN3):c.461-5C>T
|
rs779793979
|
|
NM_001042432.2(CLN3):c.461-6C>T
|
|
|
NM_001042432.2(CLN3):c.461-7C>T
|
rs1036844453
|
|
NM_001042432.2(CLN3):c.461-8C>A
|
rs897938562
|
|
NM_001042432.2(CLN3):c.466G>C (p.Val156Leu)
|
|
|
NM_001042432.2(CLN3):c.467del (p.Val156fs)
|
|
|
NM_001042432.2(CLN3):c.47-2A>T
|
|
|
NM_001042432.2(CLN3):c.47-2del
|
|
|
NM_001042432.2(CLN3):c.47-4C>G
|
|
|
NM_001042432.2(CLN3):c.47-4C>T
|
rs1555469480
|
|
NM_001042432.2(CLN3):c.47-5C>G
|
|
|
NM_001042432.2(CLN3):c.47-7C>G
|
rs776361372
|
|
NM_001042432.2(CLN3):c.47-8T>C
|
rs1596567778
|
|
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr)
|
rs386833723
|
|
NM_001042432.2(CLN3):c.476G>C (p.Ser159Thr)
|
|
|
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter)
|
rs386833724
|
|
NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu)
|
rs386833724
|
|
NM_001042432.2(CLN3):c.483A>G (p.Ser161=)
|
|
|
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)
|
rs386833725
|
|
NM_001042432.2(CLN3):c.490C>G (p.Leu164Val)
|
|
|
NM_001042432.2(CLN3):c.492T>C (p.Leu164=)
|
|
|
NM_001042432.2(CLN3):c.494G>A (p.Gly165Glu)
|
rs786201028
|
|
NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly)
|
rs2141712916
|
|
NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter)
|
rs386833726
|
|
NM_001042432.2(CLN3):c.500T>A (p.Val167Asp)
|
rs1418465028
|
|
NM_001042432.2(CLN3):c.501C>T (p.Val167=)
|
rs2141712899
|
|
NM_001042432.2(CLN3):c.505T>G (p.Phe169Val)
|
rs1392387565
|
|
NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro)
|
rs386833727
|
|
NM_001042432.2(CLN3):c.510C>T (p.Leu170=)
|
|
|
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)
|
rs1401497994
|
|
NM_001042432.2(CLN3):c.513C>T (p.Ser171=)
|
rs1384593542
|
|
NM_001042432.2(CLN3):c.522C>T (p.Ala174=)
|
|
|
NM_001042432.2(CLN3):c.526T>C (p.Tyr176His)
|
rs1191755724
|
|
NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)
|
|
|
NM_001042432.2(CLN3):c.528C>T (p.Tyr176=)
|
|
|
NM_001042432.2(CLN3):c.530C>T (p.Pro177Leu)
|
|
|
NM_001042432.2(CLN3):c.533+11G>A
|
|
|
NM_001042432.2(CLN3):c.533+12G>A
|
|
|
NM_001042432.2(CLN3):c.533+12G>T
|
|
|
NM_001042432.2(CLN3):c.533+15C>T
|
|
|
NM_001042432.2(CLN3):c.533+19del
|
|
|
NM_001042432.2(CLN3):c.533+1G>A
|
rs386833728
|
|
NM_001042432.2(CLN3):c.533+1G>C
|
rs386833728
|
|
NM_001042432.2(CLN3):c.533+3_533+10del
|
rs2141712782
|
|
NM_001042432.2(CLN3):c.533+6C>T
|
rs2141712792
|
|
NM_001042432.2(CLN3):c.534-17T>C
|
|
|
NM_001042432.2(CLN3):c.534-18C>T
|
rs1310342698
|
|
NM_001042432.2(CLN3):c.534-1G>C
|
|
|
NM_001042432.2(CLN3):c.534-20T>A
|
rs1209961868
|
|
NM_001042432.2(CLN3):c.534-2A>G
|
rs2046221354
|
|
NM_001042432.2(CLN3):c.534-5C>T
|
|
|
NM_001042432.2(CLN3):c.534G>C (p.Arg178Ser)
|
rs756640405
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
NM_001042432.2(CLN3):c.538G>C (p.Val180Leu)
|
rs202215629
|
|
NM_001042432.2(CLN3):c.53A>G (p.Glu18Gly)
|
rs2046314460
|
|
NM_001042432.2(CLN3):c.540G>T (p.Val180=)
|
|
|
NM_001042432.2(CLN3):c.545C>G (p.Ser182Cys)
|
rs2141712549
|
|
NM_001042432.2(CLN3):c.54G>T (p.Glu18Asp)
|
rs2141722130
|
|
NM_001042432.2(CLN3):c.550T>C (p.Trp184Arg)
|
rs2046221058
|
|
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.554C>T (p.Ser185Phe)
|
rs2046221010
|
|
NM_001042432.2(CLN3):c.555del (p.Ser186fs)
|
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)
|
|
|
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala)
|
rs386833730
|
|
NM_001042432.2(CLN3):c.564T>C (p.Thr188=)
|
|
|
NM_001042432.2(CLN3):c.564T>G (p.Thr188=)
|
|
|
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.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.56C>T (p.Thr19Ile)
|
|
|
NM_001042432.2(CLN3):c.573T>C (p.Ala191=)
|
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.576G>T (p.Gly192=)
|
rs566516380
|
|
NM_001042432.2(CLN3):c.579G>A (p.Leu193=)
|
|
|
NM_001042432.2(CLN3):c.57C>A (p.Thr19=)
|
|
|
NM_001042432.2(CLN3):c.57C>G (p.Thr19=)
|
rs2141722111
|
|
NM_001042432.2(CLN3):c.582G>A (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.586G>T (p.Ala196Ser)
|
rs796052339
|
|
NM_001042432.2(CLN3):c.586dup (p.Ala196fs)
|
rs386833735
|
|
NM_001042432.2(CLN3):c.589C>G (p.Leu197Val)
|
rs753705869
|
|
NM_001042432.2(CLN3):c.589C>T (p.Leu197=)
|
rs753705869
|
|
NM_001042432.2(CLN3):c.591G>C (p.Leu197=)
|
rs764082661
|
|
NM_001042432.2(CLN3):c.592del (p.Ser198fs)
|
rs2141712336
|
|
NM_001042432.2(CLN3):c.594C>T (p.Ser198=)
|
|
|
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.608C>T (p.Thr203Ile)
|
|
|
NM_001042432.2(CLN3):c.609C>G (p.Thr203=)
|
rs2141712284
|
|
NM_001042432.2(CLN3):c.60C>T (p.Val20=)
|
|
|
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
|
|
|
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro)
|
rs2141712276
|
|
NM_001042432.2(CLN3):c.618C>T (p.Gly206=)
|
rs2141712243
|
|
NM_001042432.2(CLN3):c.620T>C (p.Leu207Pro)
|
rs1411868641
|
|
NM_001042432.2(CLN3):c.62C>G (p.Pro21Arg)
|
|
|
NM_001042432.2(CLN3):c.62C>T (p.Pro21Leu)
|
rs562525993
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
NM_001042432.2(CLN3):c.636C>T (p.Thr212=)
|
|
|
NM_001042432.2(CLN3):c.637C>T (p.Leu213=)
|
rs2141712165
|
|
NM_001042432.2(CLN3):c.639G>C (p.Leu213=)
|
rs2141712141
|
|
NM_001042432.2(CLN3):c.639del (p.Leu214fs)
|
rs2046218391
|
|
NM_001042432.2(CLN3):c.63G>A (p.Pro21=)
|
|
|
NM_001042432.2(CLN3):c.642G>A (p.Leu214=)
|
|
|
NM_001042432.2(CLN3):c.644C>T (p.Ser215Phe)
|
|
|
NM_001042432.2(CLN3):c.645C>A (p.Ser215=)
|
rs1462596482
|
|
NM_001042432.2(CLN3):c.645C>G (p.Ser215=)
|
rs1462596482
|
|
NM_001042432.2(CLN3):c.646A>G (p.Met216Val)
|
rs2046218124
|
|
NM_001042432.2(CLN3):c.651G>C (p.Leu217=)
|
rs2141712068
|
|
NM_001042432.2(CLN3):c.657C>A (p.Ile219=)
|
|
|
NM_001042432.2(CLN3):c.657C>T (p.Ile219=)
|
rs1364319614
|
|
NM_001042432.2(CLN3):c.662C>T (p.Ala221Val)
|
|
|
NM_001042432.2(CLN3):c.663C>T (p.Ala221=)
|
|
|
NM_001042432.2(CLN3):c.666G>A (p.Leu222=)
|
|
|
NM_001042432.2(CLN3):c.66G>A (p.Glu22=)
|
rs2141722085
|
|
NM_001042432.2(CLN3):c.671T>C (p.Leu224Pro)
|
rs2046217325
|
|
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)
|
rs1555468695
|
|
NM_001042432.2(CLN3):c.677+10C>A
|
|
|
NM_001042432.2(CLN3):c.677+10C>T
|
|
|
NM_001042432.2(CLN3):c.677+11C>T
|
|
|
NM_001042432.2(CLN3):c.677+18G>T
|
|
|
NM_001042432.2(CLN3):c.677+1G>T
|
rs1057517287
|
|
NM_001042432.2(CLN3):c.677+5G>C
|
|
|
NM_001042432.2(CLN3):c.677+7T>G
|
|
|
NM_001042432.2(CLN3):c.677+9C>T
|
rs2141711965
|
|
NM_001042432.2(CLN3):c.678-14C>T
|
|
|
NM_001042432.2(CLN3):c.678-1_680del
|
|
|
NM_001042432.2(CLN3):c.678-2A>G
|
rs2046162412
|
|
NM_001042432.2(CLN3):c.678-6T>C
|
rs2141707250
|
|
NM_001042432.2(CLN3):c.678-7C>T
|
rs2141707254
|
|
NM_001042432.2(CLN3):c.678-8A>G
|
|
|
NM_001042432.2(CLN3):c.683del (p.Phe228fs)
|
|
|
NM_001042432.2(CLN3):c.683dup (p.Leu230fs)
|
rs1057516335
|
|
NM_001042432.2(CLN3):c.684C>T (p.Phe228=)
|
|
|
NM_001042432.2(CLN3):c.688T>A (p.Leu230Met)
|
rs746075287
|
|
NM_001042432.2(CLN3):c.688T>C (p.Leu230=)
|
rs746075287
|
|
NM_001042432.2(CLN3):c.689T>G (p.Leu230Trp)
|
rs2046161855
|
|
NM_001042432.2(CLN3):c.696A>G (p.Thr232=)
|
|
|
NM_001042432.2(CLN3):c.698C>A (p.Ser233Tyr)
|
rs2046161412
|
|
NM_001042432.2(CLN3):c.6A>G (p.Gly2=)
|
|
|
NM_001042432.2(CLN3):c.702T>G (p.Pro234=)
|
|
|
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val)
|
rs754906598
|
|
NM_001042432.2(CLN3):c.709C>T (p.Gln237Ter)
|
rs2141707084
|
|
NM_001042432.2(CLN3):c.711G>A (p.Gln237=)
|
rs2141707065
|
|
NM_001042432.2(CLN3):c.714C>T (p.Asp238=)
|
|
|
NM_001042432.2(CLN3):c.717T>C (p.Pro239=)
|
rs2046160732
|
|
NM_001042432.2(CLN3):c.722G>A (p.Gly241Glu)
|
|
|
NM_001042432.2(CLN3):c.723G>T (p.Gly241=)
|
rs2141707009
|
|
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)
|
rs796052340
|
|
NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp)
|
rs2046160396
|
|
NM_001042432.2(CLN3):c.729del (p.Glu244fs)
|
|
|
NM_001042432.2(CLN3):c.731A>C (p.Glu244Ala)
|
rs2046160099
|
|
NM_001042432.2(CLN3):c.734C>A (p.Ala245Glu)
|
rs2141706952
|
|
NM_001042432.2(CLN3):c.734_736del (p.Ala245del)
|
rs776966610
|
|
NM_001042432.2(CLN3):c.737A>T (p.Glu246Val)
|
rs2046159849
|
|
NM_001042432.2(CLN3):c.739A>C (p.Ser247Arg)
|
|
|
NM_001042432.2(CLN3):c.744A>C (p.Ala248=)
|
rs1446036630
|
|
NM_001042432.2(CLN3):c.747C>T (p.Ala249=)
|
|
|
NM_001042432.2(CLN3):c.749G>C (p.Arg250Pro)
|
rs374217931
|
|
NM_001042432.2(CLN3):c.750del (p.Gln251fs)
|
rs1064796502
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001042432.2(CLN3):c.755C>T (p.Pro252Leu)
|
rs761065339
|
|
NM_001042432.2(CLN3):c.756C>T (p.Pro252=)
|
rs2046158184
|
|
NM_001042432.2(CLN3):c.759C>T (p.Leu253=)
|
rs772274552
|
|
NM_001042432.2(CLN3):c.75C>A (p.Leu25=)
|
|
|
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.771G>C (p.Glu257Asp)
|
rs73533466
|
|
NM_001042432.2(CLN3):c.772G>A (p.Ala258Thr)
|
|
|
NM_001042432.2(CLN3):c.774C>T (p.Ala258=)
|
|
|
NM_001042432.2(CLN3):c.775C>T (p.Pro259Ser)
|
|
|
NM_001042432.2(CLN3):c.776C>A (p.Pro259Gln)
|
rs137858807
|
|
NM_001042432.2(CLN3):c.784A>G (p.Lys262Glu)
|
|
|
NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)
|
rs1064794233
|
|
NM_001042432.2(CLN3):c.790+10A>G
|
rs2141706615
|
|
NM_001042432.2(CLN3):c.790+14A>C
|
|
|
NM_001042432.2(CLN3):c.790+19C>G
|
|
|
NM_001042432.2(CLN3):c.790+1G>A
|
|
|
NM_001042432.2(CLN3):c.790+1G>T
|
|
|
NM_001042432.2(CLN3):c.790+1del
|
rs1555468374
|
|
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+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.790+7G>A
|
rs2046156095
|
|
NM_001042432.2(CLN3):c.790+7G>C
|
rs2046156095
|
|
NM_001042432.2(CLN3):c.790+9C>G
|
rs1220855528
|
|
NM_001042432.2(CLN3):c.790G>C (p.Gly264Arg)
|
rs2046156366
|
|
NM_001042432.2(CLN3):c.790G>T (p.Gly264Cys)
|
rs2046156366
|
|
NM_001042432.2(CLN3):c.791-11T>G
|
|
|
NM_001042432.2(CLN3):c.791-13T>C
|
|
|
NM_001042432.2(CLN3):c.791-15T>C
|
|
|
NM_001042432.2(CLN3):c.791-16C>G
|
|
|
NM_001042432.2(CLN3):c.791-1G>A
|
rs1057517350
|
|
NM_001042432.2(CLN3):c.791-20C>T
|
|
|
NM_001042432.2(CLN3):c.791-2A>G
|
|
|
NM_001042432.2(CLN3):c.791-5T>G
|
|
|
NM_001042432.2(CLN3):c.791-6C>T
|
rs1057523421
|
|
NM_001042432.2(CLN3):c.791-6del
|
rs2141704273
|
|
NM_001042432.2(CLN3):c.791-7C>T
|
|
|
NM_001042432.2(CLN3):c.791-8C>T
|
rs2141704283
|
|
NM_001042432.2(CLN3):c.791-9C>A
|
|
|
NM_001042432.2(CLN3):c.791-9C>T
|
rs771178755
|
|
NM_001042432.2(CLN3):c.792C>T (p.Gly264=)
|
rs2046122078
|
|
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala)
|
rs2141704251
|
|
NM_001042432.2(CLN3):c.794C>T (p.Ser265Phe)
|
|
|
NM_001042432.2(CLN3):c.798C>T (p.Ser266=)
|
rs2141704238
|
|
NM_001042432.2(CLN3):c.7G>A (p.Gly3Ser)
|
rs1398814860
|
|
NM_001042432.2(CLN3):c.804C>T (p.Ser268=)
|
rs773546150
|
|
NM_001042432.2(CLN3):c.805C>T (p.Leu269Phe)
|
rs1308474116
|
|
NM_001042432.2(CLN3):c.80T>C (p.Leu27Pro)
|
|
|
NM_001042432.2(CLN3):c.813T>A (p.Leu271=)
|
|
|
NM_001042432.2(CLN3):c.816_817del (p.Glu273fs)
|
rs886041546
|
|
NM_001042432.2(CLN3):c.825G>A (p.Trp275Ter)
|
rs2141704162
|
|
NM_001042432.2(CLN3):c.828_829del (p.Phe278fs)
|
|
|
NM_001042432.2(CLN3):c.832T>A (p.Phe278Ile)
|
rs1567257709
|
|
NM_001042432.2(CLN3):c.837+10A>T
|
|
|
NM_001042432.2(CLN3):c.837+13G>A
|
|
|
NM_001042432.2(CLN3):c.837+17G>C
|
|
|
NM_001042432.2(CLN3):c.837+1G>T
|
|
|
NM_001042432.2(CLN3):c.837+3del
|
rs759553835
|
|
NM_001042432.2(CLN3):c.837+4C>T
|
rs778372397
|
|
NM_001042432.2(CLN3):c.837+9G>A
|
|
|
NM_001042432.2(CLN3):c.837+9dup
|
rs774380601
|
|
NM_001042432.2(CLN3):c.838-11G>A
|
|
|
NM_001042432.2(CLN3):c.838-12T>C
|
rs778887944
|
|
NM_001042432.2(CLN3):c.838-17T>A
|
|
|
NM_001042432.2(CLN3):c.838-20A>T
|
|
|
NM_001042432.2(CLN3):c.838-3C>G
|
|
|
NM_001042432.2(CLN3):c.838-9C>T
|
rs1157303314
|
|
NM_001042432.2(CLN3):c.843G>A (p.Leu281=)
|
rs932586773
|
|
NM_001042432.2(CLN3):c.843G>T (p.Leu281=)
|
rs932586773
|
|
NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu)
|
|
|
NM_001042432.2(CLN3):c.846G>A (p.Leu282=)
|
rs2141703882
|
|
NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)
|
|
|
NM_001042432.2(CLN3):c.849G>T (p.Trp283Cys)
|
rs1064795226
|
|
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.855T>C (p.Ile285=)
|
|
|
NM_001042432.2(CLN3):c.859C>A (p.Pro287Thr)
|
rs796052341
|
|
NM_001042432.2(CLN3):c.861C>G (p.Pro287=)
|
|
|
NM_001042432.2(CLN3):c.861C>T (p.Pro287=)
|
rs1057524528
|
|
NM_001042432.2(CLN3):c.867C>G (p.Val289=)
|
rs2046117159
|
|
NM_001042432.2(CLN3):c.867C>T (p.Val289=)
|
rs2046117159
|
|
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.871dup (p.Val291fs)
|
|
|
NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu)
|
rs1131691496
|
|
NM_001042432.2(CLN3):c.882C>G (p.Ala294=)
|
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly)
|
rs2141703722
|
|
NM_001042432.2(CLN3):c.885G>A (p.Glu295=)
|
|
|
NM_001042432.2(CLN3):c.899del (p.Gln300fs)
|
rs1596556924
|
|
NM_001042432.2(CLN3):c.906+10G>A
|
rs1486544857
|
|
NM_001042432.2(CLN3):c.906+11G>A
|
|
|
NM_001042432.2(CLN3):c.906+15C>G
|
|
|
NM_001042432.2(CLN3):c.906+16T>C
|
rs2141703636
|
|
NM_001042432.2(CLN3):c.906+17A>G
|
|
|
NM_001042432.2(CLN3):c.906+18G>A
|
rs2046115412
|
|
NM_001042432.2(CLN3):c.906+18G>C
|
|
|
NM_001042432.2(CLN3):c.906+20A>C
|
|
|
NM_001042432.2(CLN3):c.906+2T>G
|
rs771788391
|
|
NM_001042432.2(CLN3):c.906+5G>A
|
rs386833739
|
|
NM_001042432.2(CLN3):c.906+9G>C
|
rs1191183887
|
|
NM_001042432.2(CLN3):c.907-17T>A
|
|
|
NM_001042432.2(CLN3):c.907-18G>A
|
|
|
NM_001042432.2(CLN3):c.907-19del
|
rs749233275
|
|
NM_001042432.2(CLN3):c.907-2A>G
|
rs2141703433
|
|
NM_001042432.2(CLN3):c.907-3C>T
|
|
|
NM_001042432.2(CLN3):c.907-4G>A
|
|
|
NM_001042432.2(CLN3):c.907-7G>A
|
rs368113837
|
|
NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)
|
|
|
NM_001042432.2(CLN3):c.913CTC[1] (p.Leu306del)
|
rs2046113354
|
|
NM_001042432.2(CLN3):c.915C>G (p.Leu305=)
|
rs759304422
|
|
NM_001042432.2(CLN3):c.915C>T (p.Leu305=)
|
rs759304422
|
|
NM_001042432.2(CLN3):c.916C>T (p.Leu306Phe)
|
|
|
NM_001042432.2(CLN3):c.917T>A (p.Leu306His)
|
|
|
NM_001042432.2(CLN3):c.918C>G (p.Leu306=)
|
|
|
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs)
|
rs2046113301
|
|
NM_001042432.2(CLN3):c.930C>T (p.Asn310=)
|
rs2141703388
|
|
NM_001042432.2(CLN3):c.931A>G (p.Thr311Ala)
|
|
|
NM_001042432.2(CLN3):c.936C>T (p.Ser312=)
|
rs762896453
|
|
NM_001042432.2(CLN3):c.937C>T (p.Leu313=)
|
|
|
NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)
|
|
|
NM_001042432.2(CLN3):c.943C>G (p.His315Asp)
|
rs2141703350
|
|
NM_001042432.2(CLN3):c.944_945insGA (p.His315fs)
|
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.946G>T (p.Ala316Ser)
|
rs780974004
|
|
NM_001042432.2(CLN3):c.947C>G (p.Ala316Gly)
|
rs2046112700
|
|
NM_001042432.2(CLN3):c.950A>G (p.Gln317Arg)
|
rs1215782261
|
|
NM_001042432.2(CLN3):c.954A>T (p.Gln318His)
|
rs2141703284
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042432.2(CLN3):c.954dup (p.Tyr319fs)
|
|
|
NM_001042432.2(CLN3):c.956A>G (p.Tyr319Cys)
|
rs1322613715
|
|
NM_001042432.2(CLN3):c.962+10G>A
|
rs1409669851
|
|
NM_001042432.2(CLN3):c.962+18A>G
|
|
|
NM_001042432.2(CLN3):c.962+1G>A
|
rs1057516267
|
|
NM_001042432.2(CLN3):c.962+2dup
|
|
|
NM_001042432.2(CLN3):c.962+4A>G
|
rs1596556713
|
|
NM_001042432.2(CLN3):c.962+7G>A
|
rs1555468172
|
|
NM_001042432.2(CLN3):c.962+8G>A
|
rs2046112088
|
|
NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter)
|
rs2046112247
|
|
NM_001042432.2(CLN3):c.963-10C>G
|
|
|
NM_001042432.2(CLN3):c.963-15C>G
|
|
|
NM_001042432.2(CLN3):c.963-15C>T
|
rs746276318
|
|
NM_001042432.2(CLN3):c.963-16C>A
|
rs200023908
|
|
NM_001042432.2(CLN3):c.963-16C>T
|
|
|
NM_001042432.2(CLN3):c.963-17C>A
|
rs746616613
|
|
NM_001042432.2(CLN3):c.963-1G>T
|
rs386833742
|
|
NM_001042432.2(CLN3):c.963-20C>T
|
|
|
NM_001042432.2(CLN3):c.963-2A>C
|
rs1418997146
|
|
NM_001042432.2(CLN3):c.963-2A>G
|
rs1418997146
|
|
NM_001042432.2(CLN3):c.963-5C>A
|
|
|
NM_001042432.2(CLN3):c.963-63_963-44dup
|
rs1555468153
|
|
NM_001042432.2(CLN3):c.963-6C>A
|
|
|
NM_001042432.2(CLN3):c.963-8A>C
|
|
|
NM_001042432.2(CLN3):c.963-8A>G
|
|
|
NM_001042432.2(CLN3):c.964T>C (p.Tyr322His)
|
rs2141702890
|
|
NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)
|
|
|
NM_001042432.2(CLN3):c.969G>A (p.Gln323=)
|
rs2141702884
|
|
NM_001042432.2(CLN3):c.96C>A (p.Gly32=)
|
|
|
NM_001042432.2(CLN3):c.96C>T (p.Gly32=)
|
|
|
NM_001042432.2(CLN3):c.976T>C (p.Tyr326His)
|
rs796052337
|
|
NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter)
|
rs386833743
|
|
NM_001042432.2(CLN3):c.984T>A (p.Ala328=)
|
rs2141702854
|
|
NM_001042432.2(CLN3):c.985_988del (p.Gly329fs)
|
rs2141702839
|
|
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)
|
rs386833744
|
|
NM_001042432.2(CLN3):c.990C>G (p.Val330=)
|
rs2141702816
|
|
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
|
rs2046109345
|
|
NM_001042432.2(CLN3):c.995C>T (p.Ala332Val)
|
|
|
NM_001042432.2(CLN3):c.996C>T (p.Ala332=)
|
|
|
NM_001042432.2(CLN3):c.99G>C (p.Ala33=)
|
|
|
NM_001042432.2(CLN3):c.9C>T (p.Gly3=)
|
rs2141722774
|
|
Single allele
|
|
|