NM_152564.5(VPS13B):c.9331-2A>T
|
rs74485751
|
0.06492
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_152564.5(VPS13B):c.7248-1G>A
|
rs763079458
|
0.00003
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_152564.5(VPS13B):c.10061+1G>A
|
rs1200459145
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs)
|
rs386834059
|
0.00001
|
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)
|
rs1394681818
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.11746-1G>A
|
rs372327659
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_152564.5(VPS13B):c.147+1G>A
|
rs1057517029
|
0.00001
|
NM_152564.5(VPS13B):c.2824+2T>C
|
rs141703746
|
0.00001
|
NM_152564.5(VPS13B):c.3082+2T>C
|
rs1188811827
|
0.00001
|
NM_152564.5(VPS13B):c.3083-2A>C
|
rs1456528242
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)
|
rs1057516633
|
0.00001
|
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)
|
rs886041586
|
0.00001
|
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)
|
rs754016783
|
0.00001
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
NM_152564.5(VPS13B):c.7780-2A>C
|
rs1378196300
|
0.00001
|
NM_017890.4(VPS13B):c.10018_10021delGTTG
|
rs1554579522
|
|
NM_017890.4(VPS13B):c.6733_6748del16
|
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
NM_017890.4:c.3542_3543ins5
|
|
|
NM_017890.4:c.7128_7129ins5
|
|
|
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)
|
rs1057516324
|
|
NM_152564.5(VPS13B):c.10062-2A>G
|
rs1554581156
|
|
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter)
|
rs1554625617
|
|
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter)
|
rs1057516437
|
|
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)
|
rs1554581267
|
|
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)
|
rs1554625632
|
|
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs)
|
rs1554581430
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.1040del (p.Ser347fs)
|
rs1057516971
|
|
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs)
|
rs1554581632
|
|
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs)
|
rs1554581676
|
|
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs)
|
rs1057517137
|
|
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs)
|
rs1554625693
|
|
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)
|
rs1057520769
|
|
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs)
|
rs1057516274
|
|
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs)
|
rs1554561356
|
|
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)
|
rs120074154
|
|
NM_152564.5(VPS13B):c.10868-2A>C
|
rs745404712
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs)
|
rs1057517202
|
|
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs)
|
rs1057517376
|
|
NM_152564.5(VPS13B):c.11216-1G>A
|
rs1057517441
|
|
NM_152564.5(VPS13B):c.11216-2A>G
|
rs867112705
|
|
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)
|
rs1347701279
|
|
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)
|
rs1057516245
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs)
|
rs1554586972
|
|
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs)
|
rs1554586994
|
|
NM_152564.5(VPS13B):c.11392+1G>T
|
rs1554587021
|
|
NM_152564.5(VPS13B):c.11393-1G>A
|
rs747363890
|
|
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs)
|
rs1057516284
|
|
NM_152564.5(VPS13B):c.11496-2A>G
|
rs1554588353
|
|
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)
|
rs1554625838
|
|
NM_152564.5(VPS13B):c.11575del (p.His3859fs)
|
rs1057516651
|
|
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs)
|
rs1057517438
|
|
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter)
|
rs1057517385
|
|
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs)
|
rs1554588477
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs)
|
rs1554588489
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs)
|
rs1554590314
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
NM_152564.5(VPS13B):c.1187del (p.Lys396fs)
|
rs1554625872
|
|
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)
|
rs1057517328
|
|
NM_152564.5(VPS13B):c.1303-1G>C
|
rs1554634091
|
|
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)
|
rs1408744761
|
|
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs)
|
rs1057517319
|
|
NM_152564.5(VPS13B):c.1563+1G>A
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)
|
rs1057517177
|
|
NM_152564.5(VPS13B):c.1669del (p.Asp557fs)
|
rs1057517283
|
|
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs)
|
rs1057517338
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
NM_152564.5(VPS13B):c.2268del (p.Val757fs)
|
rs1057516532
|
|
NM_152564.5(VPS13B):c.2333+2T>C
|
rs1554652265
|
|
NM_152564.5(VPS13B):c.2334-2A>G
|
rs1554665974
|
|
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter)
|
rs1057516681
|
|
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter)
|
rs1554666009
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs)
|
rs1554706149
|
|
NM_152564.5(VPS13B):c.2650+1G>A
|
rs1554706285
|
|
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs)
|
rs1554706662
|
|
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs)
|
rs1057517255
|
|
NM_152564.5(VPS13B):c.2828del (p.Ala943fs)
|
rs1554765140
|
|
NM_152564.5(VPS13B):c.2855del (p.Leu952fs)
|
rs1554765173
|
|
NM_152564.5(VPS13B):c.291+1G>A
|
rs1057516857
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.2934+1_2934+2del
|
rs180177358
|
|
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs)
|
rs1554767735
|
|
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)
|
rs1057516670
|
|
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs)
|
rs1057516834
|
|
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs)
|
rs1554788238
|
|
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs)
|
rs1057516926
|
|
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs)
|
rs1057517447
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs)
|
rs1554793521
|
|
NM_152564.5(VPS13B):c.3445+1G>T
|
rs1034855385
|
|
NM_152564.5(VPS13B):c.3666+1G>T
|
rs1554807146
|
|
NM_152564.5(VPS13B):c.3666+2T>A
|
rs386834082
|
|
NM_152564.5(VPS13B):c.3667-1G>A
|
rs750609612
|
|
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs)
|
rs1554814271
|
|
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter)
|
rs1057516422
|
|
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)
|
rs753645306
|
|
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)
|
rs1057516653
|
|
NM_152564.5(VPS13B):c.4042+2T>C
|
rs1554822819
|
|
NM_152564.5(VPS13B):c.412+1G>A
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)
|
rs1057517076
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)
|
rs1554826566
|
|
NM_152564.5(VPS13B):c.4746-1G>T
|
rs768342041
|
|
NM_152564.5(VPS13B):c.4746-2A>T
|
rs1554843814
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs)
|
rs1554843942
|
|
NM_152564.5(VPS13B):c.4950-1G>C
|
rs1554852945
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs)
|
rs1554853676
|
|
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter)
|
rs1554884575
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer)
|
rs1554884932
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
NM_152564.5(VPS13B):c.5909-1G>T
|
rs1057516694
|
|
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)
|
rs886041323
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
NM_152564.5(VPS13B):c.6047-1G>A
|
rs750092574
|
|
NM_152564.5(VPS13B):c.6047-5_6047del
|
rs1057516841
|
|
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs)
|
rs1554911430
|
|
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs)
|
rs1554911481
|
|
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter)
|
rs1057516331
|
|
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter)
|
rs1057516489
|
|
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)
|
rs1057516287
|
|
NM_152564.5(VPS13B):c.6454+1G>C
|
rs1235993153
|
|
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)
|
rs1057516494
|
|
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)
|
rs1057517318
|
|
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter)
|
rs1057516663
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs)
|
rs1057516302
|
|
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs)
|
rs1554924412
|
|
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)
|
rs767858119
|
|
NM_152564.5(VPS13B):c.7050+1G>T
|
rs1057516840
|
|
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)
|
rs1057516559
|
|
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter)
|
rs1057516660
|
|
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)
|
rs886041184
|
|
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)
|
rs1554952465
|
|
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs)
|
rs1554952467
|
|
NM_152564.5(VPS13B):c.7396del (p.His2466fs)
|
rs1554952554
|
|
NM_152564.5(VPS13B):c.7429+2T>C
|
rs1057517393
|
|
NM_152564.5(VPS13B):c.7941+1G>A
|
rs1554955952
|
|
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)
|
rs1554622608
|
|
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs)
|
rs1554560668
|
|
NM_152564.5(VPS13B):c.803del (p.Asp268fs)
|
rs1554622622
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
NM_152564.5(VPS13B):c.8098-1G>C
|
rs1554565484
|
|
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs)
|
rs1554565537
|
|
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs)
|
rs1554565558
|
|
NM_152564.5(VPS13B):c.8361+1G>A
|
rs542757501
|
|
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)
|
rs1057516484
|
|
NM_152564.5(VPS13B):c.8445+2T>C
|
rs1554566396
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)
|
rs765302278
|
|
NM_152564.5(VPS13B):c.8621+2T>G
|
rs1057517236
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs)
|
rs1057516845
|
|
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer)
|
rs1554622718
|
|
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter)
|
rs1057516558
|
|
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs)
|
rs1057516276
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)
|
rs1057516538
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)
|
rs1057516789
|
|
NM_152564.5(VPS13B):c.9184-2_9184del
|
rs1057516807
|
|
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)
|
rs773945333
|
|
NM_152564.5(VPS13B):c.9330+1G>C
|
rs756013171
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)
|
rs1554574028
|
|
NM_152564.5(VPS13B):c.9614+1G>T
|
rs1057517168
|
|
NM_152564.5(VPS13B):c.9615-2A>C
|
rs386834120
|
|
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)
|
rs941969577
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152564.5(VPS13B):c.9742+1G>T
|
rs759374475
|
|
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs)
|
rs768801125
|
|
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)
|
rs774357106
|
|
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs)
|
rs1057516568
|
|
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs)
|
rs1057516614
|
|
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs)
|
rs1554575679
|
|
NM_152564.5(VPS13B):c.9934_9942+5del
|
rs1554575693
|
|
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)
|
rs1301330402
|
|
NM_152564.5(VPS13B):c.9942+1G>A
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9942+1G>T
|
rs1057517063
|
|