NM_152594.3(SPRED1):c.423+105C>G
|
rs1879937
|
0.95428
|
NM_152594.3(SPRED1):c.377-149G>A
|
rs1879939
|
0.91751
|
NM_152594.3(SPRED1):c.582+52A>G
|
rs7181472
|
0.90817
|
NM_152594.3(SPRED1):c.32+307A>C
|
rs3938236
|
0.86429
|
NM_152594.3(SPRED1):c.423+272A>G
|
rs8036371
|
0.82581
|
NM_152594.3(SPRED1):c.33-274A>G
|
rs10220731
|
0.82218
|
NM_152594.3(SPRED1):c.291G>A (p.Lys97=)
|
rs7182445
|
0.82029
|
NM_152594.3(SPRED1):c.424-8C>A
|
rs7180446
|
0.82015
|
NM_152594.3(SPRED1):c.424-98T>C
|
rs7163339
|
0.82009
|
NM_152594.3(SPRED1):c.423+103C>T
|
rs1879938
|
0.81979
|
NM_152594.3(SPRED1):c.1044T>C (p.Val348=)
|
rs3751526
|
0.81965
|
NM_152594.3(SPRED1):c.685-206G>A
|
rs12913526
|
0.81962
|
NM_152594.3(SPRED1):c.685-184C>T
|
rs12914722
|
0.81957
|
NM_152594.3(SPRED1):c.684+167A>G
|
rs10083640
|
0.81947
|
NM_152594.3(SPRED1):c.684+53_684+54insTA
|
rs59928364
|
0.81573
|
NM_152594.3(SPRED1):c.684+49_684+50insTT
|
rs61670754
|
0.81547
|
NM_152594.3(SPRED1):c.377-319T>C
|
rs1916153
|
0.77343
|
NM_152594.3(SPRED1):c.424-18G>A
|
rs7179118
|
0.23890
|
NM_152594.3(SPRED1):c.423+292G>A
|
rs75373471
|
0.04647
|
NM_152594.3(SPRED1):c.*248T>C
|
rs16966842
|
0.04503
|
NM_152594.3(SPRED1):c.423+52C>A
|
rs12595839
|
0.03842
|
NM_152594.3(SPRED1):c.*256C>T
|
rs145373657
|
0.01162
|
NM_152594.3(SPRED1):c.684+133A>G
|
rs76305448
|
0.01099
|
NM_152594.3(SPRED1):c.-332G>A
|
rs147075186
|
0.00717
|
NM_152594.3(SPRED1):c.583-7A>G
|
rs115970207
|
0.00630
|
NM_152594.3(SPRED1):c.32+162G>A
|
rs142573328
|
0.00345
|
NM_152594.3(SPRED1):c.377-201A>G
|
rs139396722
|
0.00283
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
NM_152594.3(SPRED1):c.675C>T (p.Ser225=)
|
rs144764225
|
0.00092
|
NM_152594.3(SPRED1):c.*3745A>G
|
rs142928983
|
0.00080
|
NM_152594.3(SPRED1):c.207+15A>G
|
rs377288061
|
0.00073
|
NM_152594.3(SPRED1):c.*4471C>A
|
rs574232846
|
0.00071
|
NM_152594.3(SPRED1):c.*4472C>A
|
rs541556786
|
0.00071
|
NM_152594.3(SPRED1):c.939G>A (p.Thr313=)
|
rs140644874
|
0.00070
|
NM_152594.3(SPRED1):c.*3192G>A
|
rs566065329
|
0.00064
|
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)
|
rs201692618
|
0.00042
|
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
NM_152594.3(SPRED1):c.377-10A>G
|
rs376134678
|
0.00026
|
NM_152594.3(SPRED1):c.*4304G>A
|
rs537477031
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
NM_152594.3(SPRED1):c.177T>C (p.Phe59=)
|
rs397517871
|
0.00010
|
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)
|
rs200157475
|
0.00010
|
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn)
|
rs771480941
|
0.00009
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_152594.3(SPRED1):c.1273A>G (p.Met425Val)
|
rs368307475
|
0.00006
|
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His)
|
rs369492789
|
0.00006
|
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile)
|
rs373477920
|
0.00005
|
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=)
|
rs755223172
|
0.00005
|
NM_152594.3(SPRED1):c.685-8T>C
|
rs760690837
|
0.00005
|
NM_152594.3(SPRED1):c.594T>C (p.Gly198=)
|
rs756643495
|
0.00004
|
NM_152594.3(SPRED1):c.-18G>T
|
rs755489788
|
0.00003
|
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys)
|
rs765788978
|
0.00003
|
NM_152594.3(SPRED1):c.684+50A>T
|
rs200338097
|
0.00003
|
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=)
|
rs768937237
|
0.00002
|
NM_152594.3(SPRED1):c.879G>A (p.Leu293=)
|
rs535687467
|
0.00002
|
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile)
|
rs752958999
|
0.00001
|
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val)
|
rs746414913
|
0.00001
|
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)
|
rs959758606
|
0.00001
|
NM_152594.3(SPRED1):c.196A>C (p.Arg66=)
|
rs751923342
|
0.00001
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr)
|
rs761473300
|
0.00001
|
NM_152594.3(SPRED1):c.304dup (p.Thr102fs)
|
rs1555391053
|
0.00001
|
NM_152594.3(SPRED1):c.33-1G>A
|
rs1895105626
|
0.00001
|
NM_152594.3(SPRED1):c.384C>T (p.Pro128=)
|
rs761058615
|
0.00001
|
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn)
|
rs373384814
|
0.00001
|
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)
|
rs1057517941
|
0.00001
|
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala)
|
rs1421913267
|
0.00001
|
NM_152594.3(SPRED1):c.700A>G (p.Ile234Val)
|
rs1199792537
|
0.00001
|
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
|
rs121434313
|
0.00001
|
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter)
|
rs1172820756
|
0.00001
|
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys)
|
rs886041428
|
0.00001
|
NM_152594.3(SPRED1):c.920A>G (p.Asp307Gly)
|
rs764868020
|
0.00001
|
GRCh37/hg19 15q14(chr15:38466370-38578075)x1
|
|
|
GRCh37/hg19 15q14(chr15:38533577-38587586)x3
|
|
|
GRCh37/hg19 15q14(chr15:38570091-38647695)x3
|
|
|
NC_000015.10:g.38252630G>T
|
rs569895675
|
|
NM_152594.3(SPRED1):c.*3647T>G
|
rs186366365
|
|
NM_152594.3(SPRED1):c.*578AT[13]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.-134C>T
|
|
|
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter)
|
rs1566876895
|
|
NM_152594.3(SPRED1):c.1048_1060del (p.Gly350fs)
|
rs1057517943
|
|
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val)
|
|
|
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser)
|
rs2141016537
|
|
NM_152594.3(SPRED1):c.1119G>T (p.Glu373Asp)
|
rs1085307754
|
|
NM_152594.3(SPRED1):c.1145A>T (p.Asp382Val)
|
|
|
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
|
rs1595763925
|
|
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs)
|
rs878855228
|
|
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
|
|
|
NM_152594.3(SPRED1):c.14C>G (p.Thr5Arg)
|
rs2140943407
|
|
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)
|
rs121434315
|
|
NM_152594.3(SPRED1):c.207+37A>G
|
rs2272105
|
|
NM_152594.3(SPRED1):c.208-12G>A
|
|
|
NM_152594.3(SPRED1):c.236A>G (p.Asp79Gly)
|
rs2140994779
|
|
NM_152594.3(SPRED1):c.299G>T (p.Gly100Val)
|
rs1555391048
|
|
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro)
|
rs1595746820
|
|
NM_152594.3(SPRED1):c.311A>G (p.Gln104Arg)
|
rs748376033
|
|
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer)
|
rs1595746858
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
NM_152594.3(SPRED1):c.350G>A (p.Arg117Gln)
|
|
|
NM_152594.3(SPRED1):c.354A>T (p.Arg118Ser)
|
rs2140994930
|
|
NM_152594.3(SPRED1):c.376+279_376+291del
|
rs3841233
|
|
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
|
|
|
NM_152594.3(SPRED1):c.49G>C (p.Val17Leu)
|
rs1895106351
|
|
NM_152594.3(SPRED1):c.583-11_583-8del
|
|
|
NM_152594.3(SPRED1):c.605T>C (p.Leu202Ser)
|
rs1555392598
|
|
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr)
|
rs2141014869
|
|
NM_152594.3(SPRED1):c.636A>C (p.Val212=)
|
rs1057523137
|
|
NM_152594.3(SPRED1):c.66G>T (p.Met22Ile)
|
rs1555389685
|
|
NM_152594.3(SPRED1):c.684+50_684+51insAAT
|
rs34352434
|
|
NM_152594.3(SPRED1):c.685-244G>C
|
rs12913505
|
|
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln)
|
rs1057518150
|
|
NM_152594.3(SPRED1):c.71_72delinsTT (p.Arg24Leu)
|
rs2140978413
|
|
NM_152594.3(SPRED1):c.722A>G (p.Asp241Gly)
|
rs2141016047
|
|
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly)
|
rs1057524159
|
|
NM_152594.3(SPRED1):c.773A>G (p.Tyr258Cys)
|
rs2141016090
|
|
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter)
|
rs1566876690
|
|
NM_152594.3(SPRED1):c.788A>G (p.His263Arg)
|
|
|
NM_152594.3(SPRED1):c.893A>G (p.Asp298Gly)
|
|
|
NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala)
|
rs1888477050
|
|
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs)
|
rs1595763662
|
|
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs)
|
rs1595763659
|
|
NM_152594.3(SPRED1):c.933T>C (p.Phe311=)
|
rs1057522873
|
|
NM_152594.3(SPRED1):c.964A>T (p.Lys322Ter)
|
|
|
NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly)
|
rs1057518683
|
|