NM_001330311.2(DVL1):c.366A>G (p.Pro122=)
|
rs307362
|
0.99656
|
NM_001330311.2(DVL1):c.1208-209T>C
|
rs307369
|
0.97356
|
NM_001330311.2(DVL1):c.171-99A>G
|
rs307361
|
0.97351
|
NM_001330311.2(DVL1):c.605+235C>T
|
rs307363
|
0.97346
|
NM_001330311.2(DVL1):c.1207+317T>C
|
rs307368
|
0.87155
|
NM_001330311.2(DVL1):c.1714+241T>C
|
rs307371
|
0.81195
|
NM_001330311.2(DVL1):c.-45C>T
|
rs150789461
|
0.80772
|
NM_001330311.2(DVL1):c.1714+79T>C
|
rs307370
|
0.78319
|
NM_001330311.2(DVL1):c.606-194C>T
|
rs3855955
|
0.18296
|
NM_001330311.2(DVL1):c.910-99C>T
|
rs11582808
|
0.14360
|
NM_001330311.2(DVL1):c.606-73G>A
|
rs111883533
|
0.10203
|
NM_001330311.2(DVL1):c.1715-47G>A
|
rs111315662
|
0.09439
|
NM_001330311.2(DVL1):c.363-60G>A
|
rs182531
|
0.05678
|
NM_001330311.2(DVL1):c.1715-333C>T
|
rs142333038
|
0.03218
|
NM_001330311.2(DVL1):c.1715-150C>T
|
rs142868903
|
0.02315
|
NM_001330311.2(DVL1):c.170+137G>A
|
rs141858975
|
0.01880
|
NM_001330311.2(DVL1):c.1339+28G>A
|
rs186806059
|
0.01416
|
NM_001330311.2(DVL1):c.240+22C>T
|
rs143423496
|
0.01031
|
NM_001330311.2(DVL1):c.1715-177C>A
|
rs151070368
|
0.01030
|
NM_001330311.2(DVL1):c.909+46C>T
|
rs189778963
|
0.00845
|
NM_001330311.2(DVL1):c.-56G>A
|
rs373712517
|
0.00714
|
NM_001330311.2(DVL1):c.362+8C>T
|
rs140992194
|
0.00669
|
NM_001330311.2(DVL1):c.241-97G>A
|
rs560699417
|
0.00599
|
NM_001330311.2(DVL1):c.1208-103G>A
|
rs111406880
|
0.00558
|
NM_001330311.2(DVL1):c.1047C>T (p.Val349=)
|
rs150917044
|
0.00473
|
NM_001330311.2(DVL1):c.1044C>T (p.Thr348=)
|
rs139346691
|
0.00397
|
NM_001330311.2(DVL1):c.1714+43C>T
|
rs373781378
|
0.00278
|
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)
|
rs140107023
|
0.00213
|
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val)
|
rs145496306
|
0.00208
|
NM_001330311.2(DVL1):c.708C>T (p.Ser236=)
|
rs139844875
|
0.00156
|
NM_001330311.2(DVL1):c.1221G>A (p.Ala407=)
|
rs144133102
|
0.00139
|
NM_001330311.2(DVL1):c.909+19C>T
|
rs140836852
|
0.00121
|
NM_001330311.2(DVL1):c.858C>T (p.Gly286=)
|
rs142495951
|
0.00112
|
NM_001330311.2(DVL1):c.1080C>T (p.Pro360=)
|
rs112772235
|
0.00086
|
NM_001330311.2(DVL1):c.1507+15C>T
|
rs375866434
|
0.00082
|
NM_001330311.2(DVL1):c.531C>T (p.Ser177=)
|
rs148933527
|
0.00077
|
NM_001330311.2(DVL1):c.532G>A (p.Ala178Thr)
|
rs149806644
|
0.00063
|
NM_001330311.2(DVL1):c.1461C>A (p.Ile487=)
|
rs145559274
|
0.00059
|
NM_001330311.2(DVL1):c.606G>A (p.Arg202=)
|
rs143175544
|
0.00056
|
NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser)
|
rs139708222
|
0.00055
|
NM_001330311.2(DVL1):c.607C>T (p.Leu203Phe)
|
rs148942048
|
0.00054
|
NM_001330311.2(DVL1):c.1055-16C>T
|
rs370978063
|
0.00051
|
NM_001330311.2(DVL1):c.685C>G (p.Arg229Gly)
|
rs144365982
|
0.00048
|
NM_001330311.2(DVL1):c.702C>T (p.Ala234=)
|
rs141536842
|
0.00046
|
NM_001330311.2(DVL1):c.1911C>T (p.Thr637=)
|
rs760791785
|
0.00044
|
NM_001330311.2(DVL1):c.1923C>T (p.Leu641=)
|
rs370097001
|
0.00044
|
NM_001330311.2(DVL1):c.1762C>T (p.Arg588Cys)
|
rs202097902
|
0.00038
|
NM_001330311.2(DVL1):c.468C>T (p.Ala156=)
|
rs201343862
|
0.00038
|
NM_001330311.2(DVL1):c.533C>T (p.Ala178Val)
|
rs139645212
|
0.00036
|
NM_001330311.2(DVL1):c.910-3C>T
|
rs201582986
|
0.00034
|
NM_001330311.2(DVL1):c.1470C>G (p.Ser490=)
|
rs149343423
|
0.00032
|
NM_001330311.2(DVL1):c.362+18G>T
|
rs200762957
|
0.00032
|
NM_001330311.2(DVL1):c.1900G>T (p.Ala634Ser)
|
rs374846579
|
0.00029
|
NM_001330311.2(DVL1):c.769+10C>T
|
rs200061154
|
0.00026
|
NM_001330311.2(DVL1):c.780C>T (p.His260=)
|
rs143130884
|
0.00025
|
NM_001330311.2(DVL1):c.1212G>A (p.Leu404=)
|
rs139904078
|
0.00023
|
NM_001330311.2(DVL1):c.1802G>T (p.Gly601Val)
|
rs143613619
|
0.00021
|
NM_001330311.2(DVL1):c.1860G>A (p.Pro620=)
|
rs370205492
|
0.00021
|
NM_001330311.2(DVL1):c.473G>A (p.Arg158Gln)
|
rs150617550
|
0.00020
|
NM_001330311.2(DVL1):c.1281G>A (p.Ser427=)
|
rs148871455
|
0.00019
|
NM_001330311.2(DVL1):c.1592C>T (p.Pro531Leu)
|
rs199505104
|
0.00019
|
NM_001330311.2(DVL1):c.1602G>T (p.Leu534=)
|
rs752706599
|
0.00019
|
NM_001330311.2(DVL1):c.1827G>A (p.Pro609=)
|
rs368265757
|
0.00019
|
NM_001330311.2(DVL1):c.759G>A (p.Thr253=)
|
rs1140338
|
0.00019
|
NM_001330311.2(DVL1):c.177G>A (p.Val59=)
|
rs371315460
|
0.00017
|
NM_001330311.2(DVL1):c.1857T>G (p.Arg619=)
|
rs372041252
|
0.00017
|
NM_001330311.2(DVL1):c.1566G>C (p.Leu522=)
|
rs779479020
|
0.00015
|
NM_001330311.2(DVL1):c.1523A>G (p.Asn508Ser)
|
rs368987984
|
0.00014
|
NM_001330311.2(DVL1):c.1580A>C (p.His527Pro)
|
rs749864968
|
0.00014
|
NM_001330311.2(DVL1):c.1715-9C>A
|
rs545740677
|
0.00014
|
NM_001330311.2(DVL1):c.1777C>T (p.Arg593Trp)
|
rs372681220
|
0.00014
|
NM_001330311.2(DVL1):c.1027C>T (p.Pro343Ser)
|
rs889149726
|
0.00012
|
NM_001330311.2(DVL1):c.1769A>G (p.Lys590Arg)
|
rs771937584
|
0.00012
|
NM_001330311.2(DVL1):c.1961T>C (p.Val654Ala)
|
rs761979060
|
0.00012
|
NM_001330311.2(DVL1):c.876C>T (p.Asp292=)
|
rs560603838
|
0.00012
|
NM_001330311.2(DVL1):c.1254C>T (p.Val418=)
|
rs374474114
|
0.00011
|
NM_001330311.2(DVL1):c.2004C>T (p.Ala668=)
|
rs531416128
|
0.00011
|
NM_001330311.2(DVL1):c.561G>C (p.Glu187Asp)
|
rs199864327
|
0.00010
|
NM_001330311.2(DVL1):c.770-7C>T
|
rs1287882535
|
0.00010
|
NM_001330311.2(DVL1):c.1650G>A (p.Pro550=)
|
rs770137374
|
0.00009
|
NM_001330311.2(DVL1):c.1856G>A (p.Arg619His)
|
rs570904822
|
0.00009
|
NM_001330311.2(DVL1):c.241-9C>T
|
rs374438990
|
0.00009
|
NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp)
|
rs142925511
|
0.00009
|
NM_001330311.2(DVL1):c.688C>A (p.Gln230Lys)
|
rs760413915
|
0.00009
|
NM_001330311.2(DVL1):c.910-8C>T
|
rs201165686
|
0.00009
|
NM_001330311.2(DVL1):c.665G>A (p.Arg222Gln)
|
rs143283367
|
0.00008
|
NM_001330311.2(DVL1):c.1758G>A (p.Pro586=)
|
rs61757368
|
0.00007
|
NM_001330311.2(DVL1):c.1229C>T (p.Thr410Met)
|
rs768931734
|
0.00006
|
NM_001330311.2(DVL1):c.183G>A (p.Glu61=)
|
rs202200721
|
0.00006
|
NM_001330311.2(DVL1):c.1937C>T (p.Pro646Leu)
|
rs562753230
|
0.00006
|
NM_001330311.2(DVL1):c.700-16C>T
|
rs201591960
|
0.00006
|
NM_001330311.2(DVL1):c.831C>T (p.Gly277=)
|
rs775197227
|
0.00006
|
NM_001330311.2(DVL1):c.1035C>T (p.Ser345=)
|
rs750694359
|
0.00005
|
NM_001330311.2(DVL1):c.2029C>T (p.Arg677Cys)
|
rs781175326
|
0.00005
|
NM_001330311.2(DVL1):c.534G>A (p.Ala178=)
|
rs777195356
|
0.00005
|
NM_001330311.2(DVL1):c.817C>T (p.Arg273Cys)
|
rs766988615
|
0.00005
|
NM_001330311.2(DVL1):c.1137G>A (p.Thr379=)
|
rs1340352657
|
0.00004
|
NM_001330311.2(DVL1):c.1282G>C (p.Gly428Arg)
|
rs201616962
|
0.00004
|
NM_001330311.2(DVL1):c.1448C>T (p.Thr483Met)
|
rs1329117789
|
0.00004
|
NM_001330311.2(DVL1):c.1739G>A (p.Arg580Gln)
|
rs374246352
|
0.00004
|
NM_001330311.2(DVL1):c.1747C>T (p.Arg583Cys)
|
rs781647592
|
0.00004
|
NM_001330311.2(DVL1):c.1819A>C (p.Thr607Pro)
|
rs769935706
|
0.00004
|
NM_001330311.2(DVL1):c.1992G>A (p.Arg664=)
|
rs770444542
|
0.00004
|
NM_001330311.2(DVL1):c.2013G>A (p.Pro671=)
|
rs755030520
|
0.00004
|
NM_001330311.2(DVL1):c.467-15C>T
|
rs763328334
|
0.00004
|
NM_001330311.2(DVL1):c.544C>G (p.Leu182Val)
|
rs776810243
|
0.00004
|
NM_001330311.2(DVL1):c.738C>T (p.Ser246=)
|
rs1140335
|
0.00004
|
NM_001330311.2(DVL1):c.744C>T (p.Asn248=)
|
rs770720858
|
0.00004
|
NM_001330311.2(DVL1):c.770-6C>T
|
rs760294970
|
0.00004
|
NM_001330311.2(DVL1):c.879C>A (p.Gly293=)
|
rs372568186
|
0.00004
|
NM_001330311.2(DVL1):c.1061C>T (p.Pro354Leu)
|
rs1047862834
|
0.00003
|
NM_001330311.2(DVL1):c.1230G>A (p.Thr410=)
|
rs371482747
|
0.00003
|
NM_001330311.2(DVL1):c.1239T>C (p.Ser413=)
|
rs770046620
|
0.00003
|
NM_001330311.2(DVL1):c.1431C>T (p.His477=)
|
rs369153264
|
0.00003
|
NM_001330311.2(DVL1):c.1649C>T (p.Pro550Leu)
|
rs375584920
|
0.00003
|
NM_001330311.2(DVL1):c.1826C>T (p.Pro609Leu)
|
rs146143161
|
0.00003
|
NM_001330311.2(DVL1):c.2043G>A (p.Gln681=)
|
rs1432594238
|
0.00003
|
NM_001330311.2(DVL1):c.362+12G>A
|
rs759098275
|
0.00003
|
NM_001330311.2(DVL1):c.399C>T (p.Asn133=)
|
rs377006847
|
0.00003
|
NM_001330311.2(DVL1):c.552C>T (p.Ser184=)
|
rs773845796
|
0.00003
|
NM_001330311.2(DVL1):c.699G>T (p.Arg233=)
|
rs771135299
|
0.00003
|
NM_001330311.2(DVL1):c.700-5C>T
|
rs774635123
|
0.00003
|
NM_001330311.2(DVL1):c.770-10C>T
|
rs370241040
|
0.00003
|
NM_001330311.2(DVL1):c.910-14C>T
|
rs757950194
|
0.00003
|
NM_001330311.2(DVL1):c.945C>T (p.Asp315=)
|
rs148967371
|
0.00003
|
NM_001330311.2(DVL1):c.1062G>A (p.Pro354=)
|
rs1160297819
|
0.00002
|
NM_001330311.2(DVL1):c.1104G>A (p.Ala368=)
|
rs1320063338
|
0.00002
|
NM_001330311.2(DVL1):c.1340-15G>A
|
rs376201539
|
0.00002
|
NM_001330311.2(DVL1):c.1350G>C (p.Val450=)
|
rs1290432990
|
0.00002
|
NM_001330311.2(DVL1):c.1572G>A (p.Pro524=)
|
rs531247891
|
0.00002
|
NM_001330311.2(DVL1):c.1583C>T (p.Pro528Leu)
|
rs780834416
|
0.00002
|
NM_001330311.2(DVL1):c.170+10C>T
|
rs760621481
|
0.00002
|
NM_001330311.2(DVL1):c.1891C>T (p.Arg631Cys)
|
rs780781683
|
0.00002
|
NM_001330311.2(DVL1):c.1991G>A (p.Arg664Gln)
|
rs776073474
|
0.00002
|
NM_001330311.2(DVL1):c.2012C>T (p.Pro671Leu)
|
rs925302561
|
0.00002
|
NM_001330311.2(DVL1):c.2061C>T (p.Pro687=)
|
rs760077387
|
0.00002
|
NM_001330311.2(DVL1):c.222C>T (p.Asn74=)
|
rs373414538
|
0.00002
|
NM_001330311.2(DVL1):c.267G>A (p.Ser89=)
|
rs143738174
|
0.00002
|
NM_001330311.2(DVL1):c.273G>A (p.Ala91=)
|
rs201640020
|
0.00002
|
NM_001330311.2(DVL1):c.362+7A>T
|
rs569373207
|
0.00002
|
NM_001330311.2(DVL1):c.511G>A (p.Val171Met)
|
rs546493336
|
0.00002
|
NM_001330311.2(DVL1):c.540C>T (p.Thr180=)
|
rs369864312
|
0.00002
|
NM_001330311.2(DVL1):c.679C>T (p.Arg227Cys)
|
rs747373290
|
0.00002
|
NM_001330311.2(DVL1):c.732C>A (p.Thr244=)
|
rs764513046
|
0.00002
|
NM_001330311.2(DVL1):c.770-5T>C
|
rs772781809
|
0.00002
|
NM_001330311.2(DVL1):c.882C>T (p.Arg294=)
|
rs368650718
|
0.00002
|
NM_001330311.2(DVL1):c.1025C>T (p.Thr342Met)
|
rs758202266
|
0.00001
|
NM_001330311.2(DVL1):c.1117G>A (p.Ala373Thr)
|
rs915704394
|
0.00001
|
NM_001330311.2(DVL1):c.1133G>A (p.Gly378Asp)
|
rs540896617
|
0.00001
|
NM_001330311.2(DVL1):c.1339+18C>T
|
rs773679400
|
0.00001
|
NM_001330311.2(DVL1):c.1343C>T (p.Ala448Val)
|
rs773789094
|
0.00001
|
NM_001330311.2(DVL1):c.1391G>T (p.Arg464Leu)
|
rs1232376736
|
0.00001
|
NM_001330311.2(DVL1):c.1410C>T (p.Tyr470=)
|
rs750728883
|
0.00001
|
NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser)
|
rs780909370
|
0.00001
|
NM_001330311.2(DVL1):c.1507+1_1508-1del
|
rs1553173467
|
0.00001
|
NM_001330311.2(DVL1):c.152C>T (p.Ser51Phe)
|
rs1359542325
|
0.00001
|
NM_001330311.2(DVL1):c.1578C>G (p.Pro526=)
|
rs749850446
|
0.00001
|
NM_001330311.2(DVL1):c.1633C>T (p.Pro545Ser)
|
rs769086399
|
0.00001
|
NM_001330311.2(DVL1):c.168C>T (p.Phe56=)
|
rs753664879
|
0.00001
|
NM_001330311.2(DVL1):c.1716G>C (p.Gly572=)
|
rs773112898
|
0.00001
|
NM_001330311.2(DVL1):c.1725C>T (p.Ser575=)
|
rs370626248
|
0.00001
|
NM_001330311.2(DVL1):c.1811C>T (p.Ser604Leu)
|
rs377189378
|
0.00001
|
NM_001330311.2(DVL1):c.1838G>A (p.Gly613Glu)
|
rs748742257
|
0.00001
|
NM_001330311.2(DVL1):c.1849C>T (p.Arg617Ter)
|
rs748686111
|
0.00001
|
NM_001330311.2(DVL1):c.1854G>A (p.Glu618=)
|
rs556292877
|
0.00001
|
NM_001330311.2(DVL1):c.1877G>A (p.Arg626His)
|
rs748424414
|
0.00001
|
NM_001330311.2(DVL1):c.213C>T (p.Pro71=)
|
rs768427713
|
0.00001
|
NM_001330311.2(DVL1):c.240+8C>T
|
rs751174476
|
0.00001
|
NM_001330311.2(DVL1):c.264C>T (p.His88=)
|
rs200912697
|
0.00001
|
NM_001330311.2(DVL1):c.288G>A (p.Thr96=)
|
rs767846983
|
0.00001
|
NM_001330311.2(DVL1):c.311C>T (p.Pro104Leu)
|
rs1167067444
|
0.00001
|
NM_001330311.2(DVL1):c.357C>T (p.Ser119=)
|
rs1459616077
|
0.00001
|
NM_001330311.2(DVL1):c.362A>G (p.His121Arg)
|
rs777929063
|
0.00001
|
NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys)
|
rs762913745
|
0.00001
|
NM_001330311.2(DVL1):c.401A>T (p.Glu134Val)
|
rs995295861
|
0.00001
|
NM_001330311.2(DVL1):c.451C>T (p.Arg151Trp)
|
rs540790160
|
0.00001
|
NM_001330311.2(DVL1):c.467-6C>G
|
rs1233246402
|
0.00001
|
NM_001330311.2(DVL1):c.500G>A (p.Arg167Gln)
|
rs770252125
|
0.00001
|
NM_001330311.2(DVL1):c.506G>A (p.Arg169Gln)
|
rs771316976
|
0.00001
|
NM_001330311.2(DVL1):c.606-12G>A
|
rs368317428
|
0.00001
|
NM_001330311.2(DVL1):c.61C>T (p.Leu21=)
|
rs1478033631
|
0.00001
|
NM_001330311.2(DVL1):c.649C>T (p.Arg217Trp)
|
rs776253695
|
0.00001
|
NM_001330311.2(DVL1):c.667C>T (p.Arg223Trp)
|
rs770156738
|
0.00001
|
NM_001330311.2(DVL1):c.699+10C>T
|
rs758840205
|
0.00001
|
NM_001330311.2(DVL1):c.704C>T (p.Ser235Phe)
|
rs756926819
|
0.00001
|
NM_001330311.2(DVL1):c.731C>T (p.Thr244Ile)
|
rs148148529
|
0.00001
|
NM_001330311.2(DVL1):c.758C>T (p.Thr253Met)
|
rs1643746555
|
0.00001
|
NM_001330311.2(DVL1):c.769+16G>A
|
rs771586508
|
0.00001
|
NM_001330311.2(DVL1):c.798C>T (p.Ile266=)
|
rs769677266
|
0.00001
|
NM_001330311.2(DVL1):c.910-9C>T
|
rs1318666683
|
0.00001
|
NM_001330311.2(DVL1):c.951C>T (p.Ala317=)
|
rs779553612
|
0.00001
|
NM_001330311.2(DVL1):c.952G>A (p.Val318Met)
|
rs1356138225
|
0.00001
|
NM_001330311.2(DVL1):c.955C>T (p.Arg319Trp)
|
rs755962173
|
0.00001
|
NC_000001.10:g.(?_1271522)_(1278158_?)dup
|
|
|
NC_000001.11:g.1336516del
|
|
|
NM_001330311.2(DVL1):c.1045G>A (p.Val349Ile)
|
|
|
NM_001330311.2(DVL1):c.1045_1047dup (p.Val349dup)
|
rs753442476
|
|
NM_001330311.2(DVL1):c.1054+10C>T
|
|
|
NM_001330311.2(DVL1):c.1054+13C>T
|
rs777373138
|
|
NM_001330311.2(DVL1):c.1054+5G>T
|
|
|
NM_001330311.2(DVL1):c.1054+9C>T
|
|
|
NM_001330311.2(DVL1):c.1054G>C (p.Ala352Pro)
|
|
|
NM_001330311.2(DVL1):c.1066C>T (p.Arg356Trp)
|
|
|
NM_001330311.2(DVL1):c.1074C>T (p.Ile358=)
|
|
|
NM_001330311.2(DVL1):c.1075G>A (p.Asp359Asn)
|
|
|
NM_001330311.2(DVL1):c.1081G>A (p.Ala361Thr)
|
|
|
NM_001330311.2(DVL1):c.1081G>T (p.Ala361Ser)
|
|
|
NM_001330311.2(DVL1):c.1083C>T (p.Ala361=)
|
|
|
NM_001330311.2(DVL1):c.1084G>A (p.Ala362Thr)
|
|
|
NM_001330311.2(DVL1):c.1093T>G (p.Ser365Ala)
|
|
|
NM_001330311.2(DVL1):c.109C>T (p.Leu37Phe)
|
|
|
NM_001330311.2(DVL1):c.1100C>T (p.Thr367Met)
|
|
|
NM_001330311.2(DVL1):c.1101G>A (p.Thr367=)
|
|
|
NM_001330311.2(DVL1):c.1103C>T (p.Ala368Val)
|
|
|
NM_001330311.2(DVL1):c.1106C>T (p.Ala369Val)
|
rs1057524022
|
|
NM_001330311.2(DVL1):c.1112C>G (p.Thr371Arg)
|
|
|
NM_001330311.2(DVL1):c.1126C>T (p.Arg376Cys)
|
rs144499639
|
|
NM_001330311.2(DVL1):c.112A>G (p.Ser38Gly)
|
rs2100781645
|
|
NM_001330311.2(DVL1):c.1131C>A (p.Tyr377Ter)
|
rs779477027
|
|
NM_001330311.2(DVL1):c.1136C>T (p.Thr379Met)
|
|
|
NM_001330311.2(DVL1):c.1149C>T (p.Ser383=)
|
|
|
NM_001330311.2(DVL1):c.1163G>C (p.Arg388Pro)
|
|
|
NM_001330311.2(DVL1):c.118C>G (p.Arg40Gly)
|
|
|
NM_001330311.2(DVL1):c.119G>A (p.Arg40Gln)
|
|
|
NM_001330311.2(DVL1):c.1204_1207+6del
|
rs2100724681
|
|
NM_001330311.2(DVL1):c.1207+126C>T
|
rs307367
|
|
NM_001330311.2(DVL1):c.1208-13C>T
|
|
|
NM_001330311.2(DVL1):c.1208-18del
|
|
|
NM_001330311.2(DVL1):c.1221_1222del (p.Pro408fs)
|
|
|
NM_001330311.2(DVL1):c.1222C>T (p.Pro408Ser)
|
|
|
NM_001330311.2(DVL1):c.1223C>T (p.Pro408Leu)
|
|
|
NM_001330311.2(DVL1):c.1230G>C (p.Thr410=)
|
|
|
NM_001330311.2(DVL1):c.1232T>C (p.Val411Ala)
|
|
|
NM_001330311.2(DVL1):c.1238G>A (p.Ser413Asn)
|
|
|
NM_001330311.2(DVL1):c.1244T>A (p.Met415Lys)
|
|
|
NM_001330311.2(DVL1):c.1255G>C (p.Val419Leu)
|
|
|
NM_001330311.2(DVL1):c.1258C>T (p.Arg420Trp)
|
|
|
NM_001330311.2(DVL1):c.1263C>T (p.Val421=)
|
|
|
NM_001330311.2(DVL1):c.1269G>A (p.Gln423=)
|
|
|
NM_001330311.2(DVL1):c.126G>A (p.Val42=)
|
|
|
NM_001330311.2(DVL1):c.1278C>G (p.Asp426Glu)
|
rs141420415
|
|
NM_001330311.2(DVL1):c.1278C>T (p.Asp426=)
|
rs141420415
|
|
NM_001330311.2(DVL1):c.1285C>G (p.Leu429Val)
|
|
|
NM_001330311.2(DVL1):c.1294C>T (p.Arg432Cys)
|
|
|
NM_001330311.2(DVL1):c.1296C>T (p.Arg432=)
|
|
|
NM_001330311.2(DVL1):c.1299C>T (p.Asp433=)
|
|
|
NM_001330311.2(DVL1):c.129C>T (p.His43=)
|
rs749444501
|
|
NM_001330311.2(DVL1):c.1315A>G (p.Ile439Val)
|
|
|
NM_001330311.2(DVL1):c.1320C>T (p.Thr440=)
|
|
|
NM_001330311.2(DVL1):c.1324_1331dup (p.Val445fs)
|
rs1057518627
|
|
NM_001330311.2(DVL1):c.1332C>A (p.Ala444=)
|
|
|
NM_001330311.2(DVL1):c.1332C>T (p.Ala444=)
|
|
|
NM_001330311.2(DVL1):c.1333G>A (p.Val445Ile)
|
|
|
NM_001330311.2(DVL1):c.1339+10C>T
|
|
|
NM_001330311.2(DVL1):c.1339+13C>A
|
rs952424082
|
|
NM_001330311.2(DVL1):c.1339+19G>A
|
|
|
NM_001330311.2(DVL1):c.1339+3G>A
|
|
|
NM_001330311.2(DVL1):c.1339G>A (p.Gly447Arg)
|
rs764307176
|
|
NM_001330311.2(DVL1):c.1340-16C>T
|
|
|
NM_001330311.2(DVL1):c.1340-17C>G
|
rs1643667317
|
|
NM_001330311.2(DVL1):c.1345G>A (p.Asp449Asn)
|
rs2100718962
|
|
NM_001330311.2(DVL1):c.1347C>T (p.Asp449=)
|
rs768207125
|
|
NM_001330311.2(DVL1):c.1359G>A (p.Trp453Ter)
|
|
|
NM_001330311.2(DVL1):c.1371C>T (p.His457=)
|
|
|
NM_001330311.2(DVL1):c.1372G>A (p.Val458Met)
|
|
|
NM_001330311.2(DVL1):c.1372G>C (p.Val458Leu)
|
|
|
NM_001330311.2(DVL1):c.1378G>A (p.Gly460Ser)
|
rs2100718704
|
|
NM_001330311.2(DVL1):c.1385A>G (p.Lys462Arg)
|
|
|
NM_001330311.2(DVL1):c.138A>G (p.Lys46=)
|
|
|
NM_001330311.2(DVL1):c.1393C>T (p.Arg465Trp)
|
|
|
NM_001330311.2(DVL1):c.1394G>A (p.Arg465Gln)
|
|
|
NM_001330311.2(DVL1):c.1398G>T (p.Glu466Asp)
|
rs2100718483
|
|
NM_001330311.2(DVL1):c.1402C>A (p.Arg468=)
|
rs754108481
|
|
NM_001330311.2(DVL1):c.1402C>G (p.Arg468Gly)
|
|
|
NM_001330311.2(DVL1):c.1411G>A (p.Ala471Thr)
|
rs1569687023
|
|
NM_001330311.2(DVL1):c.1416C>T (p.Ser472=)
|
|
|
NM_001330311.2(DVL1):c.141C>A (p.Phe47Leu)
|
|
|
NM_001330311.2(DVL1):c.1441C>T (p.Arg481Trp)
|
|
|
NM_001330311.2(DVL1):c.144C>T (p.Phe48=)
|
|
|
NM_001330311.2(DVL1):c.1463C>T (p.Thr488Ile)
|
|
|
NM_001330311.2(DVL1):c.1464C>T (p.Thr488=)
|
|
|
NM_001330311.2(DVL1):c.1470C>T (p.Ser490=)
|
|
|
NM_001330311.2(DVL1):c.1484A>C (p.Tyr495Ser)
|
rs1643660447
|
|
NM_001330311.2(DVL1):c.1485C>T (p.Tyr495=)
|
|
|
NM_001330311.2(DVL1):c.1486G>A (p.Val496Ile)
|
|
|
NM_001330311.2(DVL1):c.1486G>C (p.Val496Leu)
|
rs762553903
|
|
NM_001330311.2(DVL1):c.14A>G (p.Lys5Arg)
|
|
|
NM_001330311.2(DVL1):c.1500C>T (p.Leu500=)
|
|
|
NM_001330311.2(DVL1):c.1503C>T (p.Cys501=)
|
rs1569686126
|
|
NM_001330311.2(DVL1):c.1507+16G>A
|
|
|
NM_001330311.2(DVL1):c.1507+16_1507+22del
|
|
|
NM_001330311.2(DVL1):c.1507+18G>C
|
|
|
NM_001330311.2(DVL1):c.1507+20T>C
|
|
|
NM_001330311.2(DVL1):c.1507+28G>A
|
rs137945460
|
|
NM_001330311.2(DVL1):c.1507+3G>C
|
|
|
NM_001330311.2(DVL1):c.1508-5G>A
|
|
|
NM_001330311.2(DVL1):c.1508-6C>G
|
|
|
NM_001330311.2(DVL1):c.1508-6C>T
|
rs191759160
|
|
NM_001330311.2(DVL1):c.1508-7C>T
|
|
|
NM_001330311.2(DVL1):c.1512C>G (p.Leu504=)
|
|
|
NM_001330311.2(DVL1):c.1512C>T (p.Leu504=)
|
rs770915923
|
|
NM_001330311.2(DVL1):c.1515C>T (p.Ala505=)
|
|
|
NM_001330311.2(DVL1):c.1529A>G (p.Asn510Ser)
|
|
|
NM_001330311.2(DVL1):c.1530C>A (p.Asn510Lys)
|
|
|
NM_001330311.2(DVL1):c.154A>G (p.Met52Val)
|
|
|
NM_001330311.2(DVL1):c.1562C>T (p.Thr521Met)
|
|
|
NM_001330311.2(DVL1):c.1571C>T (p.Pro524Leu)
|
|
|
NM_001330311.2(DVL1):c.1582C>T (p.Pro528Ser)
|
|
|
NM_001330311.2(DVL1):c.1583_1586del (p.Pro528fs)
|
|
|
NM_001330311.2(DVL1):c.1590C>T (p.Ala530=)
|
|
|
NM_001330311.2(DVL1):c.1593C>G (p.Pro531=)
|
rs1484331374
|
|
NM_001330311.2(DVL1):c.1594del (p.Trp532fs)
|
rs797044835
|
|
NM_001330311.2(DVL1):c.1597C>T (p.Pro533Ser)
|
|
|
NM_001330311.2(DVL1):c.159C>G (p.Asp53Glu)
|
|
|
NM_001330311.2(DVL1):c.159C>T (p.Asp53=)
|
rs764979748
|
|
NM_001330311.2(DVL1):c.1602G>A (p.Leu534=)
|
rs752706599
|
|
NM_001330311.2(DVL1):c.1610_1611delinsAA (p.Gly537Glu)
|
|
|
NM_001330311.2(DVL1):c.1615C>T (p.Pro539Ser)
|
|
|
NM_001330311.2(DVL1):c.1628C>G (p.Pro543Arg)
|
rs1256071019
|
|
NM_001330311.2(DVL1):c.162G>A (p.Gln54=)
|
rs1569756827
|
|
NM_001330311.2(DVL1):c.1635C>G (p.Pro545=)
|
|
|
NM_001330311.2(DVL1):c.1647C>G (p.Phe549Leu)
|
|
|
NM_001330311.2(DVL1):c.1651C>T (p.Pro551Ser)
|
|
|
NM_001330311.2(DVL1):c.1656C>T (p.Ala552=)
|
|
|
NM_001330311.2(DVL1):c.165C>G (p.Asp55Glu)
|
rs754863964
|
|
NM_001330311.2(DVL1):c.1660C>A (p.Gln554Lys)
|
|
|
NM_001330311.2(DVL1):c.1665C>T (p.Asp555=)
|
|
|
NM_001330311.2(DVL1):c.1667C>A (p.Pro556Gln)
|
|
|
NM_001330311.2(DVL1):c.1667C>T (p.Pro556Leu)
|
|
|
NM_001330311.2(DVL1):c.1669G>A (p.Gly557Ser)
|
|
|
NM_001330311.2(DVL1):c.1673_1674dup (p.Ser559fs)
|
|
|
NM_001330311.2(DVL1):c.1674T>C (p.Phe558=)
|
|
|
NM_001330311.2(DVL1):c.167_168delinsAT (p.Phe56Tyr)
|
rs2100781167
|
|
NM_001330311.2(DVL1):c.1684A>T (p.Ser562Cys)
|
rs2100714698
|
|
NM_001330311.2(DVL1):c.170+11C>T
|
|
|
NM_001330311.2(DVL1):c.170+14G>C
|
|
|
NM_001330311.2(DVL1):c.170+3C>T
|
|
|
NM_001330311.2(DVL1):c.171-108_171-107del
|
rs374768310
|
|
NM_001330311.2(DVL1):c.171-115G>A
|
rs111609577
|
|
NM_001330311.2(DVL1):c.171-16C>T
|
|
|
NM_001330311.2(DVL1):c.171-17G>A
|
|
|
NM_001330311.2(DVL1):c.171-18G>A
|
|
|
NM_001330311.2(DVL1):c.1715-15T>C
|
|
|
NM_001330311.2(DVL1):c.1715-16C>T
|
|
|
NM_001330311.2(DVL1):c.1715-19A>G
|
|
|
NM_001330311.2(DVL1):c.1715-29C>T
|
rs140192690
|
|
NM_001330311.2(DVL1):c.1715-45G>A
|
rs149812757
|
|
NM_001330311.2(DVL1):c.1715-54C>T
|
rs148991554
|
|
NM_001330311.2(DVL1):c.1715-5C>G
|
|
|
NM_001330311.2(DVL1):c.172G>A (p.Val58Met)
|
|
|
NM_001330311.2(DVL1):c.1731del (p.Ser578fs)
|
rs1553172962
|
|
NM_001330311.2(DVL1):c.1734C>T (p.Ser578=)
|
|
|
NM_001330311.2(DVL1):c.1738C>T (p.Arg580Trp)
|
|
|
NM_001330311.2(DVL1):c.1744A>G (p.Ser582Gly)
|
|
|
NM_001330311.2(DVL1):c.1748G>A (p.Arg583His)
|
|
|
NM_001330311.2(DVL1):c.1750C>T (p.Arg584Trp)
|
|
|
NM_001330311.2(DVL1):c.1751G>C (p.Arg584Pro)
|
rs1388656343
|
|
NM_001330311.2(DVL1):c.1753G>A (p.Ala585Thr)
|
rs2100704503
|
|
NM_001330311.2(DVL1):c.1757C>G (p.Pro586Arg)
|
rs113005319
|
|
NM_001330311.2(DVL1):c.1757C>T (p.Pro586Leu)
|
|
|
NM_001330311.2(DVL1):c.1763G>A (p.Arg588His)
|
rs375813716
|
|
NM_001330311.2(DVL1):c.1763G>T (p.Arg588Leu)
|
rs375813716
|
|
NM_001330311.2(DVL1):c.1775G>A (p.Arg592His)
|
|
|
NM_001330311.2(DVL1):c.1778G>A (p.Arg593Gln)
|
rs866234681
|
|
NM_001330311.2(DVL1):c.1781C>T (p.Ala594Val)
|
|
|
NM_001330311.2(DVL1):c.1785G>A (p.Ala595=)
|
|
|
NM_001330311.2(DVL1):c.1792G>A (p.Gly598Arg)
|
|
|
NM_001330311.2(DVL1):c.1812G>A (p.Ser604=)
|
|
|
NM_001330311.2(DVL1):c.1820C>T (p.Thr607Met)
|
|
|
NM_001330311.2(DVL1):c.1821G>A (p.Thr607=)
|
|
|
NM_001330311.2(DVL1):c.1824A>T (p.Ala608=)
|
|
|
NM_001330311.2(DVL1):c.1837G>A (p.Gly613Arg)
|
|
|
NM_001330311.2(DVL1):c.1846_1849dup (p.Arg617fs)
|
|
|
NM_001330311.2(DVL1):c.1850G>A (p.Arg617Gln)
|
|
|
NM_001330311.2(DVL1):c.1850G>T (p.Arg617Leu)
|
rs140108185
|
|
NM_001330311.2(DVL1):c.1851A>G (p.Arg617=)
|
|
|
NM_001330311.2(DVL1):c.1855C>T (p.Arg619Cys)
|
|
|
NM_001330311.2(DVL1):c.1859C>T (p.Pro620Leu)
|
|
|
NM_001330311.2(DVL1):c.1863C>T (p.Ala621=)
|
|
|
NM_001330311.2(DVL1):c.1864G>A (p.Gly622Ser)
|
|
|
NM_001330311.2(DVL1):c.1871T>A (p.Leu624His)
|
|
|
NM_001330311.2(DVL1):c.1872C>T (p.Leu624=)
|
|
|
NM_001330311.2(DVL1):c.1875C>T (p.Ser625=)
|
|
|
NM_001330311.2(DVL1):c.1876C>T (p.Arg626Cys)
|
|
|
NM_001330311.2(DVL1):c.1883G>T (p.Ser628Ile)
|
rs749795230
|
|
NM_001330311.2(DVL1):c.1889C>T (p.Pro630Leu)
|
|
|
NM_001330311.2(DVL1):c.1892G>T (p.Arg631Leu)
|
|
|
NM_001330311.2(DVL1):c.1895G>A (p.Ser632Asn)
|
|
|
NM_001330311.2(DVL1):c.1904C>T (p.Ser635Leu)
|
|
|
NM_001330311.2(DVL1):c.1914C>G (p.Ala638=)
|
|
|
NM_001330311.2(DVL1):c.1914C>T (p.Ala638=)
|
|
|
NM_001330311.2(DVL1):c.1917G>A (p.Pro639=)
|
|
|
NM_001330311.2(DVL1):c.1919G>A (p.Gly640Glu)
|
rs1643570171
|
|
NM_001330311.2(DVL1):c.1924C>T (p.Pro642Ser)
|
|
|
NM_001330311.2(DVL1):c.1928C>T (p.Pro643Leu)
|
|
|
NM_001330311.2(DVL1):c.1929G>A (p.Pro643=)
|
|
|
NM_001330311.2(DVL1):c.1935C>T (p.His645=)
|
rs1643569156
|
|
NM_001330311.2(DVL1):c.1938C>T (p.Pro646=)
|
|
|
NM_001330311.2(DVL1):c.1939A>C (p.Thr647Pro)
|
|
|
NM_001330311.2(DVL1):c.1939A>G (p.Thr647Ala)
|
|
|
NM_001330311.2(DVL1):c.1940C>T (p.Thr647Met)
|
|
|
NM_001330311.2(DVL1):c.1947G>C (p.Lys649Asn)
|
|
|
NM_001330311.2(DVL1):c.1947G>T (p.Lys649Asn)
|
|
|
NM_001330311.2(DVL1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_001330311.2(DVL1):c.1949C>T (p.Ala650Val)
|
|
|
NM_001330311.2(DVL1):c.1956A>C (p.Thr652=)
|
|
|
NM_001330311.2(DVL1):c.1968dup (p.Pro657fs)
|
rs756990609
|
|
NM_001330311.2(DVL1):c.1974C>T (p.Pro658=)
|
rs34935417
|
|
NM_001330311.2(DVL1):c.1985_1986del (p.Pro662fs)
|
rs2100702673
|
|
NM_001330311.2(DVL1):c.1990C>T (p.Arg664Trp)
|
|
|
NM_001330311.2(DVL1):c.1999G>C (p.Ala667Pro)
|
|
|
NM_001330311.2(DVL1):c.1A>C (p.Met1Leu)
|
|
|
NM_001330311.2(DVL1):c.2000C>A (p.Ala667Asp)
|
|
|
NM_001330311.2(DVL1):c.2005G>A (p.Val669Ile)
|
rs374440563
|
|
NM_001330311.2(DVL1):c.2005G>T (p.Val669Phe)
|
rs374440563
|
|
NM_001330311.2(DVL1):c.2007C>G (p.Val669=)
|
rs371155444
|
|
NM_001330311.2(DVL1):c.2007C>T (p.Val669=)
|
|
|
NM_001330311.2(DVL1):c.2018T>C (p.Leu673Ser)
|
|
|
NM_001330311.2(DVL1):c.2030G>A (p.Arg677His)
|
rs376204834
|
|
NM_001330311.2(DVL1):c.2034G>T (p.Gln678His)
|
|
|
NM_001330311.2(DVL1):c.2047G>A (p.Ala683Thr)
|
|
|
NM_001330311.2(DVL1):c.204C>T (p.Ala68=)
|
|
|
NM_001330311.2(DVL1):c.2051T>C (p.Met684Thr)
|
|
|
NM_001330311.2(DVL1):c.2059C>A (p.Pro687Thr)
|
|
|
NM_001330311.2(DVL1):c.2060C>G (p.Pro687Arg)
|
rs1258802306
|
|
NM_001330311.2(DVL1):c.2064C>T (p.Cys688=)
|
|
|
NM_001330311.2(DVL1):c.2066A>T (p.Glu689Val)
|
|
|
NM_001330311.2(DVL1):c.2069T>A (p.Phe690Tyr)
|
|
|
NM_001330311.2(DVL1):c.2070C>A (p.Phe690Leu)
|
|
|
NM_001330311.2(DVL1):c.2073C>T (p.Phe691=)
|
|
|
NM_001330311.2(DVL1):c.2074G>A (p.Val692Met)
|
|
|
NM_001330311.2(DVL1):c.2084T>C (p.Met695Thr)
|
|
|
NM_001330311.2(DVL1):c.212C>G (p.Pro71Arg)
|
rs1643867839
|
|
NM_001330311.2(DVL1):c.219C>T (p.Phe73=)
|
rs2100752883
|
|
NM_001330311.2(DVL1):c.223G>A (p.Gly75Ser)
|
|
|
NM_001330311.2(DVL1):c.226C>T (p.Arg76Cys)
|
|
|
NM_001330311.2(DVL1):c.227G>A (p.Arg76His)
|
|
|
NM_001330311.2(DVL1):c.228C>T (p.Arg76=)
|
rs907270030
|
|
NM_001330311.2(DVL1):c.22T>A (p.Tyr8Asn)
|
|
|
NM_001330311.2(DVL1):c.240+5G>A
|
|
|
NM_001330311.2(DVL1):c.241-6C>T
|
|
|
NM_001330311.2(DVL1):c.246C>G (p.Val82=)
|
|
|
NM_001330311.2(DVL1):c.249G>C (p.Leu83=)
|
|
|
NM_001330311.2(DVL1):c.251C>G (p.Ala84Gly)
|
|
|
NM_001330311.2(DVL1):c.25C>T (p.His9Tyr)
|
|
|
NM_001330311.2(DVL1):c.266C>T (p.Ser89Leu)
|
rs1418499998
|
|
NM_001330311.2(DVL1):c.275G>T (p.Gly92Val)
|
|
|
NM_001330311.2(DVL1):c.284G>A (p.Gly95Asp)
|
|
|
NM_001330311.2(DVL1):c.285C>T (p.Gly95=)
|
rs1569725207
|
|
NM_001330311.2(DVL1):c.296A>G (p.His99Arg)
|
|
|
NM_001330311.2(DVL1):c.297C>T (p.His99=)
|
|
|
NM_001330311.2(DVL1):c.29T>C (p.Met10Thr)
|
|
|
NM_001330311.2(DVL1):c.301G>T (p.Asp101Tyr)
|
|
|
NM_001330311.2(DVL1):c.307C>T (p.Pro103Ser)
|
rs752252677
|
|
NM_001330311.2(DVL1):c.310C>T (p.Pro104Ser)
|
|
|
NM_001330311.2(DVL1):c.321G>A (p.Glu107=)
|
|
|
NM_001330311.2(DVL1):c.323G>A (p.Arg108Gln)
|
|
|
NM_001330311.2(DVL1):c.327A>G (p.Thr109=)
|
|
|
NM_001330311.2(DVL1):c.32A>G (p.Asp11Gly)
|
|
|
NM_001330311.2(DVL1):c.330C>T (p.Gly110=)
|
|
|
NM_001330311.2(DVL1):c.331G>A (p.Gly111Ser)
|
|
|
NM_001330311.2(DVL1):c.347G>A (p.Arg116Gln)
|
|
|
NM_001330311.2(DVL1):c.34G>A (p.Glu12Lys)
|
rs1441825655
|
|
NM_001330311.2(DVL1):c.354C>T (p.Pro118=)
|
rs752000330
|
|
NM_001330311.2(DVL1):c.362+11C>T
|
|
|
NM_001330311.2(DVL1):c.362+13T>A
|
|
|
NM_001330311.2(DVL1):c.362+18G>A
|
rs200762957
|
|
NM_001330311.2(DVL1):c.362+94C>A
|
rs146525333
|
|
NM_001330311.2(DVL1):c.363-13T>A
|
|
|
NM_001330311.2(DVL1):c.363-15_363-14insGCCTCCCCA
|
|
|
NM_001330311.2(DVL1):c.363-16T>A
|
|
|
NM_001330311.2(DVL1):c.363-19C>G
|
|
|
NM_001330311.2(DVL1):c.363-19C>T
|
|
|
NM_001330311.2(DVL1):c.374C>T (p.Ala125Val)
|
|
|
NM_001330311.2(DVL1):c.388G>A (p.Gly130Arg)
|
|
|
NM_001330311.2(DVL1):c.394G>A (p.Asp132Asn)
|
|
|
NM_001330311.2(DVL1):c.405A>C (p.Thr135=)
|
|
|
NM_001330311.2(DVL1):c.410C>T (p.Thr137Met)
|
|
|
NM_001330311.2(DVL1):c.411G>A (p.Thr137=)
|
|
|
NM_001330311.2(DVL1):c.411G>T (p.Thr137=)
|
rs551788096
|
|
NM_001330311.2(DVL1):c.425_428del (p.Ser142fs)
|
rs1186162553
|
|
NM_001330311.2(DVL1):c.430C>T (p.Arg144Trp)
|
|
|
NM_001330311.2(DVL1):c.435_438del (p.Glu146fs)
|
rs2100749469
|
|
NM_001330311.2(DVL1):c.439C>T (p.Arg147Cys)
|
|
|
NM_001330311.2(DVL1):c.446G>A (p.Arg149Gln)
|
|
|
NM_001330311.2(DVL1):c.448C>T (p.Arg150Cys)
|
|
|
NM_001330311.2(DVL1):c.452G>A (p.Arg151Gln)
|
|
|
NM_001330311.2(DVL1):c.457C>T (p.Arg153Cys)
|
|
|
NM_001330311.2(DVL1):c.458G>A (p.Arg153His)
|
|
|
NM_001330311.2(DVL1):c.462G>T (p.Glu154Asp)
|
|
|
NM_001330311.2(DVL1):c.466+11C>T
|
|
|
NM_001330311.2(DVL1):c.466+13T>C
|
|
|
NM_001330311.2(DVL1):c.466+14G>A
|
rs1350821017
|
|
NM_001330311.2(DVL1):c.466+5A>G
|
|
|
NM_001330311.2(DVL1):c.467-10G>T
|
|
|
NM_001330311.2(DVL1):c.467-5C>A
|
rs746483212
|
|
NM_001330311.2(DVL1):c.467-5C>G
|
|
|
NM_001330311.2(DVL1):c.467-9C>T
|
|
|
NM_001330311.2(DVL1):c.469G>A (p.Ala157Thr)
|
rs61735963
|
|
NM_001330311.2(DVL1):c.469G>T (p.Ala157Ser)
|
rs61735963
|
|
NM_001330311.2(DVL1):c.472C>T (p.Arg158Trp)
|
|
|
NM_001330311.2(DVL1):c.479A>G (p.Asn160Ser)
|
|
|
NM_001330311.2(DVL1):c.490A>G (p.Arg164Gly)
|
rs376205129
|
|
NM_001330311.2(DVL1):c.51C>T (p.Tyr17=)
|
rs1416846977
|
|
NM_001330311.2(DVL1):c.520C>A (p.Pro174Thr)
|
|
|
NM_001330311.2(DVL1):c.523C>G (p.Pro175Ala)
|
rs2100747828
|
|
NM_001330311.2(DVL1):c.536C>T (p.Ser179Phe)
|
|
|
NM_001330311.2(DVL1):c.537C>T (p.Ser179=)
|
|
|
NM_001330311.2(DVL1):c.539C>A (p.Thr180Asn)
|
|
|
NM_001330311.2(DVL1):c.541G>A (p.Ala181Thr)
|
|
|
NM_001330311.2(DVL1):c.542C>T (p.Ala181Val)
|
|
|
NM_001330311.2(DVL1):c.546C>T (p.Leu182=)
|
|
|
NM_001330311.2(DVL1):c.555G>T (p.Glu185Asp)
|
|
|
NM_001330311.2(DVL1):c.558T>C (p.Leu186=)
|
|
|
NM_001330311.2(DVL1):c.563C>T (p.Ser188Phe)
|
|
|
NM_001330311.2(DVL1):c.581C>T (p.Ser194Leu)
|
|
|
NM_001330311.2(DVL1):c.582G>A (p.Ser194=)
|
|
|
NM_001330311.2(DVL1):c.584A>G (p.Asp195Gly)
|
|
|
NM_001330311.2(DVL1):c.585C>T (p.Asp195=)
|
|
|
NM_001330311.2(DVL1):c.587A>C (p.Glu196Ala)
|
|
|
NM_001330311.2(DVL1):c.599C>T (p.Thr200Met)
|
rs1254209708
|
|
NM_001330311.2(DVL1):c.600G>A (p.Thr200=)
|
rs754245807
|
|
NM_001330311.2(DVL1):c.600G>T (p.Thr200=)
|
|
|
NM_001330311.2(DVL1):c.605+109TG[3]
|
rs75244934
|
|
NM_001330311.2(DVL1):c.605+119TG[3]
|
rs201306306
|
|
NM_001330311.2(DVL1):c.605+2TG[2]
|
rs573517540
|
|
NM_001330311.2(DVL1):c.605+303_605+304del
|
rs200805477
|
|
NM_001330311.2(DVL1):c.605+70GT[4]
|
rs145370195
|
|
NM_001330311.2(DVL1):c.605+8G>A
|
|
|
NM_001330311.2(DVL1):c.606-15A>G
|
rs2100736926
|
|
NM_001330311.2(DVL1):c.606-17dup
|
|
|
NM_001330311.2(DVL1):c.606-249TG[4]
|
rs199520509
|
|
NM_001330311.2(DVL1):c.606-8G>T
|
|
|
NM_001330311.2(DVL1):c.607C>G (p.Leu203Val)
|
|
|
NM_001330311.2(DVL1):c.625C>T (p.Gln209Ter)
|
|
|
NM_001330311.2(DVL1):c.629G>A (p.Ser210Asn)
|
|
|
NM_001330311.2(DVL1):c.633C>T (p.Thr211=)
|
|
|
NM_001330311.2(DVL1):c.638C>T (p.Ser213Phe)
|
|
|
NM_001330311.2(DVL1):c.645C>T (p.Leu215=)
|
|
|
NM_001330311.2(DVL1):c.651G>C (p.Arg217=)
|
|
|
NM_001330311.2(DVL1):c.654G>A (p.Lys218=)
|
|
|
NM_001330311.2(DVL1):c.656A>C (p.His219Pro)
|
|
|
NM_001330311.2(DVL1):c.656A>G (p.His219Arg)
|
|
|
NM_001330311.2(DVL1):c.668G>A (p.Arg223Gln)
|
|
|
NM_001330311.2(DVL1):c.671G>A (p.Arg224Lys)
|
|
|
NM_001330311.2(DVL1):c.672G>A (p.Arg224=)
|
|
|
NM_001330311.2(DVL1):c.67G>T (p.Val23Leu)
|
|
|
NM_001330311.2(DVL1):c.681C>T (p.Arg227=)
|
rs758897439
|
|
NM_001330311.2(DVL1):c.686G>C (p.Arg229Pro)
|
|
|
NM_001330311.2(DVL1):c.695_699+12dup
|
|
|
NM_001330311.2(DVL1):c.698G>C (p.Arg233Pro)
|
|
|
NM_001330311.2(DVL1):c.699+11G>A
|
rs189762251
|
|
NM_001330311.2(DVL1):c.699+11G>T
|
rs189762251
|
|
NM_001330311.2(DVL1):c.699+14T>C
|
|
|
NM_001330311.2(DVL1):c.699+9C>T
|
|
|
NM_001330311.2(DVL1):c.700-11C>T
|
|
|
NM_001330311.2(DVL1):c.700-13C>T
|
|
|
NM_001330311.2(DVL1):c.700-13del
|
rs774380920
|
|
NM_001330311.2(DVL1):c.700-13dup
|
|
|
NM_001330311.2(DVL1):c.700-18G>A
|
|
|
NM_001330311.2(DVL1):c.700-19C>T
|
|
|
NM_001330311.2(DVL1):c.700-20A>C
|
|
|
NM_001330311.2(DVL1):c.700-20A>T
|
rs112871502
|
|
NM_001330311.2(DVL1):c.700-34C>T
|
rs147874931
|
|
NM_001330311.2(DVL1):c.701C>T (p.Ala234Val)
|
|
|
NM_001330311.2(DVL1):c.704C>G (p.Ser235Cys)
|
|
|
NM_001330311.2(DVL1):c.70G>A (p.Ala24Thr)
|
|
|
NM_001330311.2(DVL1):c.711C>G (p.Phe237Leu)
|
|
|
NM_001330311.2(DVL1):c.71C>T (p.Ala24Val)
|
|
|
NM_001330311.2(DVL1):c.724G>A (p.Asp242Asn)
|
|
|
NM_001330311.2(DVL1):c.727T>C (p.Ser243Pro)
|
|
|
NM_001330311.2(DVL1):c.729C>T (p.Ser243=)
|
|
|
NM_001330311.2(DVL1):c.735G>A (p.Met245Ile)
|
|
|
NM_001330311.2(DVL1):c.737C>T (p.Ser246Phe)
|
rs113333411
|
|
NM_001330311.2(DVL1):c.740T>C (p.Leu247Pro)
|
|
|
NM_001330311.2(DVL1):c.742A>G (p.Asn248Asp)
|
rs1354521644
|
|
NM_001330311.2(DVL1):c.743A>G (p.Asn248Ser)
|
|
|
NM_001330311.2(DVL1):c.745A>G (p.Ile249Val)
|
|
|
NM_001330311.2(DVL1):c.747C>T (p.Ile249=)
|
rs147684126
|
|
NM_001330311.2(DVL1):c.749T>C (p.Val250Ala)
|
|
|
NM_001330311.2(DVL1):c.764A>T (p.Asn255Ile)
|
|
|
NM_001330311.2(DVL1):c.768G>A (p.Met256Ile)
|
rs148469831
|
|
NM_001330311.2(DVL1):c.769+11G>A
|
rs746485258
|
|
NM_001330311.2(DVL1):c.769+19G>A
|
|
|
NM_001330311.2(DVL1):c.769+6G>A
|
|
|
NM_001330311.2(DVL1):c.769+6G>T
|
|
|
NM_001330311.2(DVL1):c.769+7C>G
|
|
|
NM_001330311.2(DVL1):c.769+7C>T
|
|
|
NM_001330311.2(DVL1):c.770-13G>C
|
|
|
NM_001330311.2(DVL1):c.770-16A>G
|
rs1280708703
|
|
NM_001330311.2(DVL1):c.784C>G (p.Leu262Val)
|
|
|
NM_001330311.2(DVL1):c.818G>A (p.Arg273His)
|
|
|
NM_001330311.2(DVL1):c.825C>T (p.Asp275=)
|
|
|
NM_001330311.2(DVL1):c.829G>A (p.Gly277Ser)
|
|
|
NM_001330311.2(DVL1):c.837C>T (p.Tyr279=)
|
|
|
NM_001330311.2(DVL1):c.857G>A (p.Gly286Asp)
|
|
|
NM_001330311.2(DVL1):c.863C>T (p.Ala288Val)
|
rs1643737262
|
|
NM_001330311.2(DVL1):c.871G>A (p.Ala291Thr)
|
|
|
NM_001330311.2(DVL1):c.877G>A (p.Gly293Ser)
|
|
|
NM_001330311.2(DVL1):c.87G>T (p.Thr29=)
|
|
|
NM_001330311.2(DVL1):c.881G>A (p.Arg294His)
|
|
|
NM_001330311.2(DVL1):c.885C>A (p.Ile295=)
|
|
|
NM_001330311.2(DVL1):c.885C>G (p.Ile295Met)
|
|
|
NM_001330311.2(DVL1):c.885C>T (p.Ile295=)
|
|
|
NM_001330311.2(DVL1):c.886G>A (p.Glu296Lys)
|
|
|
NM_001330311.2(DVL1):c.886G>C (p.Glu296Gln)
|
rs984999165
|
|
NM_001330311.2(DVL1):c.891C>T (p.Pro297=)
|
|
|
NM_001330311.2(DVL1):c.894C>T (p.Gly298=)
|
|
|
NM_001330311.2(DVL1):c.904C>T (p.Leu302=)
|
|
|
NM_001330311.2(DVL1):c.909+10T>G
|
|
|
NM_001330311.2(DVL1):c.909+13G>A
|
rs1557666975
|
|
NM_001330311.2(DVL1):c.909+19C>G
|
|
|
NM_001330311.2(DVL1):c.909+20G>A
|
|
|
NM_001330311.2(DVL1):c.910-17_910-6dup
|
|
|
NM_001330311.2(DVL1):c.910-5T>C
|
|
|
NM_001330311.2(DVL1):c.910-6C>G
|
rs370899175
|
|
NM_001330311.2(DVL1):c.918C>T (p.Asp306=)
|
|
|
NM_001330311.2(DVL1):c.924C>T (p.Asn308=)
|
rs775640866
|
|
NM_001330311.2(DVL1):c.926T>C (p.Phe309Ser)
|
|
|
NM_001330311.2(DVL1):c.935T>A (p.Met312Lys)
|
|
|
NM_001330311.2(DVL1):c.939C>T (p.Ser313=)
|
|
|
NM_001330311.2(DVL1):c.941A>G (p.Asn314Ser)
|
|
|
NM_001330311.2(DVL1):c.983C>A (p.Thr328Lys)
|
|
|
NM_001330311.2(DVL1):c.983C>T (p.Thr328Met)
|
|
|
NM_001330311.2(DVL1):c.986+11G>A
|
|
|
NM_001330311.2(DVL1):c.986+15C>T
|
|
|
NM_001330311.2(DVL1):c.986+16G>A
|
|
|
NM_001330311.2(DVL1):c.986+6G>A
|
|
|
NM_001330311.2(DVL1):c.986+9T>G
|
|
|
NM_001330311.2(DVL1):c.995G>A (p.Ser332Asn)
|
|
|
NM_001330311.2(DVL1):c.99C>T (p.Phe33=)
|
|
|