NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)
|
rs35392229
|
0.03244
|
NM_001130987.2(DYSF):c.1577-1635C>G
|
rs76402294
|
0.03029
|
NM_001130987.2(DYSF):c.*199T>G
|
rs13429381
|
0.02954
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)
|
rs34836829
|
0.02488
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
NM_001130987.2(DYSF):c.*53G>A
|
rs114777968
|
0.01775
|
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)
|
rs35984374
|
0.01679
|
NM_001130987.2(DYSF):c.3757-12C>T
|
rs114968209
|
0.00943
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)
|
rs116426399
|
0.00200
|
NM_001130987.2(DYSF):c.3403-10G>A
|
rs116733194
|
0.00168
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
NM_001130987.2(DYSF):c.4756-3C>T
|
rs371227553
|
0.00153
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)
|
rs145007061
|
0.00087
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
NM_001130987.2(DYSF):c.2484C>T (p.Pro828=)
|
rs143667543
|
0.00073
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)
|
rs140809078
|
0.00065
|
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)
|
rs200970855
|
0.00062
|
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)
|
rs147139414
|
0.00059
|
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)
|
rs143053635
|
0.00054
|
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)
|
rs185119682
|
0.00053
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)
|
rs142769942
|
0.00045
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)
|
rs139411595
|
0.00043
|
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)
|
rs112007817
|
0.00043
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
NM_001130987.2(DYSF):c.2698-11T>C
|
rs368482435
|
0.00041
|
NM_001130987.2(DYSF):c.5318-14T>A
|
rs373692062
|
0.00041
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00037
|
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)
|
rs150917600
|
0.00037
|
NM_001130987.2(DYSF):c.3086-9C>T
|
rs185350547
|
0.00036
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00036
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)
|
rs149408006
|
0.00034
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=)
|
rs146498307
|
0.00031
|
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr)
|
rs146213322
|
0.00030
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)
|
rs200049922
|
0.00025
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00024
|
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)
|
rs147483765
|
0.00024
|
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=)
|
rs138751942
|
0.00024
|
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)
|
rs149768871
|
0.00024
|
NM_001130987.2(DYSF):c.5458-17G>A
|
rs147638721
|
0.00024
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)
|
rs143562525
|
0.00021
|
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)
|
rs201515915
|
0.00020
|
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00020
|
NM_001130987.2(DYSF):c.316C>T (p.Leu106=)
|
rs374934430
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001130987.2(DYSF):c.1450-15C>T
|
rs376442287
|
0.00018
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys)
|
rs764208388
|
0.00018
|
NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser)
|
rs766512164
|
0.00018
|
NM_001130987.2(DYSF):c.5022C>T (p.Cys1674=)
|
rs149989207
|
0.00018
|
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)
|
rs137855767
|
0.00018
|
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=)
|
rs141720146
|
0.00017
|
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val)
|
rs138357301
|
0.00017
|
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp)
|
rs148652047
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)
|
rs545645581
|
0.00016
|
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
|
rs373744398
|
0.00015
|
NM_001130987.2(DYSF):c.279C>T (p.Leu93=)
|
rs138870937
|
0.00015
|
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met)
|
rs144634077
|
0.00015
|
NM_001130987.2(DYSF):c.460+13C>T
|
rs913978542
|
0.00015
|
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)
|
rs191337920
|
0.00014
|
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)
|
rs150717638
|
0.00014
|
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)
|
rs61746816
|
0.00014
|
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)
|
rs151276652
|
0.00014
|
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)
|
rs147678255
|
0.00014
|
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His)
|
rs185891286
|
0.00013
|
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)
|
rs1358370392
|
0.00013
|
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)
|
rs139194093
|
0.00013
|
NM_001130987.2(DYSF):c.5785-8C>T
|
rs201191038
|
0.00013
|
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)
|
rs144931729
|
0.00013
|
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)
|
rs199879861
|
0.00012
|
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)
|
rs367901920
|
0.00012
|
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)
|
rs200487610
|
0.00012
|
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser)
|
rs201834175
|
0.00012
|
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)
|
rs149087116
|
0.00012
|
NM_001130987.2(DYSF):c.1002+18A>G
|
rs112286757
|
0.00011
|
NM_001130987.2(DYSF):c.2864+8G>A
|
rs371686795
|
0.00011
|
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=)
|
rs144936357
|
0.00011
|
NM_001130987.2(DYSF):c.409C>T (p.Pro137Ser)
|
rs761301098
|
0.00011
|
NM_001130987.2(DYSF):c.5884+6C>T
|
rs144355449
|
0.00011
|
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)
|
rs150029218
|
0.00011
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001130987.2(DYSF):c.1276+14G>A
|
rs368724695
|
0.00010
|
NM_001130987.2(DYSF):c.747G>A (p.Pro249=)
|
rs751402861
|
0.00010
|
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)
|
rs146687581
|
0.00009
|
NM_001130987.2(DYSF):c.1065C>G (p.Leu355=)
|
rs143370670
|
0.00009
|
NM_001130987.2(DYSF):c.1577-1699C>T
|
rs183489578
|
0.00009
|
NM_001130987.2(DYSF):c.1632T>C (p.Tyr544=)
|
rs1296743118
|
0.00009
|
NM_001130987.2(DYSF):c.1692+13G>C
|
rs368874059
|
0.00009
|
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)
|
rs149386446
|
0.00009
|
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)
|
rs562925562
|
0.00009
|
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)
|
rs371841411
|
0.00009
|
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=)
|
rs149979662
|
0.00009
|
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)
|
rs201622087
|
0.00009
|
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=)
|
rs143775913
|
0.00009
|
NM_001130987.2(DYSF):c.3086-19C>A
|
rs199596218
|
0.00009
|
NM_001130987.2(DYSF):c.3229-6G>C
|
rs201993768
|
0.00009
|
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser)
|
rs753922932
|
0.00009
|
NM_001130987.2(DYSF):c.3402+11C>G
|
rs780844859
|
0.00009
|
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)
|
rs775881095
|
0.00009
|
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)
|
rs151268930
|
0.00009
|
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr)
|
rs143163327
|
0.00009
|
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)
|
rs772664716
|
0.00009
|
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)
|
rs370866476
|
0.00009
|
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)
|
rs199649417
|
0.00009
|
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)
|
rs201890095
|
0.00009
|
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)
|
rs376293526
|
0.00009
|
NM_001130987.2(DYSF):c.1449+3G>A
|
rs764771218
|
0.00008
|
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met)
|
rs771062534
|
0.00008
|
NM_001130987.2(DYSF):c.1985-16C>T
|
rs377533029
|
0.00008
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
NM_001130987.2(DYSF):c.4059+11C>T
|
rs759874787
|
0.00008
|
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)
|
rs147244033
|
0.00007
|
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)
|
rs777489323
|
0.00007
|
NM_001130987.2(DYSF):c.239+15G>C
|
rs376711978
|
0.00007
|
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)
|
rs192717273
|
0.00007
|
NM_001130987.2(DYSF):c.3366G>A (p.Thr1122=)
|
rs149986783
|
0.00007
|
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)
|
rs200719174
|
0.00007
|
NM_001130987.2(DYSF):c.3579C>T (p.Pro1193=)
|
rs1340277369
|
0.00007
|
NM_001130987.2(DYSF):c.1329C>A (p.Asn443Lys)
|
rs143355224
|
0.00006
|
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)
|
rs146588926
|
0.00006
|
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)
|
rs767415886
|
0.00006
|
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)
|
rs376932915
|
0.00006
|
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser)
|
rs538170367
|
0.00006
|
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn)
|
rs200422222
|
0.00006
|
NM_001130987.2(DYSF):c.3614A>G (p.Lys1205Arg)
|
rs757123788
|
0.00006
|
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=)
|
rs781758050
|
0.00006
|
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)
|
rs372573603
|
0.00006
|
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)
|
rs377056951
|
0.00006
|
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)
|
rs182185801
|
0.00006
|
NM_001130987.2(DYSF):c.4830C>T (p.Ala1610=)
|
rs375485030
|
0.00006
|
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His)
|
rs138472236
|
0.00006
|
NM_001130987.2(DYSF):c.5448C>T (p.Asp1816=)
|
rs760654351
|
0.00006
|
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)
|
rs750860886
|
0.00006
|
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)
|
rs144116735
|
0.00006
|
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)
|
rs142265349
|
0.00006
|
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)
|
rs185617318
|
0.00006
|
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)
|
rs750724439
|
0.00006
|
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)
|
rs772240035
|
0.00005
|
NM_001130987.2(DYSF):c.1737G>A (p.Glu579=)
|
rs370872013
|
0.00005
|
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)
|
rs182450244
|
0.00005
|
NM_001130987.2(DYSF):c.2427G>A (p.Pro809=)
|
rs139422989
|
0.00005
|
NM_001130987.2(DYSF):c.2679G>C (p.Leu893=)
|
rs907000231
|
0.00005
|
NM_001130987.2(DYSF):c.2973C>T (p.Thr991=)
|
rs373937234
|
0.00005
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
NM_001130987.2(DYSF):c.3476C>T (p.Thr1159Met)
|
rs140058659
|
0.00005
|
NM_001130987.2(DYSF):c.3496+15G>A
|
rs200173633
|
0.00005
|
NM_001130987.2(DYSF):c.3717G>A (p.Pro1239=)
|
rs150444588
|
0.00005
|
NM_001130987.2(DYSF):c.3939A>G (p.Thr1313=)
|
rs763332737
|
0.00005
|
NM_001130987.2(DYSF):c.405G>A (p.Pro135=)
|
rs973059586
|
0.00005
|
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)
|
rs773240314
|
0.00005
|
NM_001130987.2(DYSF):c.4821C>T (p.His1607=)
|
rs771742780
|
0.00005
|
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys)
|
rs759505768
|
0.00005
|
NM_001130987.2(DYSF):c.5547-4C>T
|
rs373098428
|
0.00005
|
NM_001130987.2(DYSF):c.6234G>A (p.Leu2078=)
|
rs376588911
|
0.00005
|
NM_001130987.2(DYSF):c.885T>G (p.Asn295Lys)
|
rs201550600
|
0.00005
|
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)
|
rs769254776
|
0.00004
|
NM_001130987.2(DYSF):c.1320C>T (p.Phe440=)
|
rs779669549
|
0.00004
|
NM_001130987.2(DYSF):c.1458C>T (p.Ser486=)
|
rs200803090
|
0.00004
|
NM_001130987.2(DYSF):c.1476G>A (p.Arg492=)
|
rs768604446
|
0.00004
|
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=)
|
rs374809515
|
0.00004
|
NM_001130987.2(DYSF):c.1807-10C>T
|
rs749361351
|
0.00004
|
NM_001130987.2(DYSF):c.1965C>T (p.Tyr655=)
|
rs759841019
|
0.00004
|
NM_001130987.2(DYSF):c.1969C>T (p.Arg657Cys)
|
rs752848496
|
0.00004
|
NM_001130987.2(DYSF):c.1985-4C>G
|
rs374489513
|
0.00004
|
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)
|
rs199565036
|
0.00004
|
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)
|
rs201239189
|
0.00004
|
NM_001130987.2(DYSF):c.2166C>T (p.Asp722=)
|
rs766639423
|
0.00004
|
NM_001130987.2(DYSF):c.2226G>A (p.Leu742=)
|
rs145868833
|
0.00004
|
NM_001130987.2(DYSF):c.2316T>C (p.Ala772=)
|
rs141314294
|
0.00004
|
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)
|
rs553605812
|
0.00004
|
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln)
|
rs748636047
|
0.00004
|
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)
|
rs373328706
|
0.00004
|
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)
|
rs535367520
|
0.00004
|
NM_001130987.2(DYSF):c.3000C>A (p.Pro1000=)
|
rs368460619
|
0.00004
|
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met)
|
rs768787171
|
0.00004
|
NM_001130987.2(DYSF):c.3126G>A (p.Pro1042=)
|
rs377235191
|
0.00004
|
NM_001130987.2(DYSF):c.3171G>A (p.Arg1057=)
|
rs200311551
|
0.00004
|
NM_001130987.2(DYSF):c.3228+7C>T
|
rs534331009
|
0.00004
|
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)
|
rs562368641
|
0.00004
|
NM_001130987.2(DYSF):c.3240G>A (p.Ala1080=)
|
rs759829047
|
0.00004
|
NM_001130987.2(DYSF):c.345+12T>G
|
rs769394497
|
0.00004
|
NM_001130987.2(DYSF):c.3460G>A (p.Gly1154Ser)
|
rs554800123
|
0.00004
|
NM_001130987.2(DYSF):c.3696G>A (p.Pro1232=)
|
rs139364929
|
0.00004
|
NM_001130987.2(DYSF):c.3757-11G>A
|
rs375151143
|
0.00004
|
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)
|
rs202013788
|
0.00004
|
NM_001130987.2(DYSF):c.3870C>T (p.Ala1290=)
|
rs778341042
|
0.00004
|
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)
|
rs535831045
|
0.00004
|
NM_001130987.2(DYSF):c.397C>T (p.Leu133=)
|
rs886043009
|
0.00004
|
NM_001130987.2(DYSF):c.4059+7C>T
|
rs562567295
|
0.00004
|
NM_001130987.2(DYSF):c.4586A>T (p.Lys1529Met)
|
rs527574888
|
0.00004
|
NM_001130987.2(DYSF):c.4590C>T (p.Cys1530=)
|
rs778185705
|
0.00004
|
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=)
|
rs369750372
|
0.00004
|
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)
|
rs752946123
|
0.00004
|
NM_001130987.2(DYSF):c.5184G>A (p.Pro1728=)
|
rs750640522
|
0.00004
|
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)
|
rs757240900
|
0.00004
|
NM_001130987.2(DYSF):c.5304C>A (p.Ser1768=)
|
rs748704263
|
0.00004
|
NM_001130987.2(DYSF):c.5451C>T (p.Ile1817=)
|
rs727503913
|
0.00004
|
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)
|
rs769289729
|
0.00004
|
NM_001130987.2(DYSF):c.5884+7G>A
|
rs578068243
|
0.00004
|
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=)
|
rs375483537
|
0.00004
|
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)
|
rs549673939
|
0.00004
|
NM_001130987.2(DYSF):c.6342G>A (p.Leu2114=)
|
rs766435391
|
0.00004
|
NM_001130987.2(DYSF):c.906G>A (p.Leu302=)
|
rs916319528
|
0.00004
|
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=)
|
rs778686949
|
0.00003
|
NM_001130987.2(DYSF):c.126C>T (p.Ser42=)
|
rs369755508
|
0.00003
|
NM_001130987.2(DYSF):c.1299C>T (p.Asn433=)
|
rs757047049
|
0.00003
|
NM_001130987.2(DYSF):c.1449+7C>T
|
rs199608017
|
0.00003
|
NM_001130987.2(DYSF):c.1450-20C>T
|
rs762342962
|
0.00003
|
NM_001130987.2(DYSF):c.1749G>A (p.Val583=)
|
rs758674748
|
0.00003
|
NM_001130987.2(DYSF):c.1752G>A (p.Glu584=)
|
rs778125491
|
0.00003
|
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)
|
rs749488054
|
0.00003
|
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)
|
rs754177085
|
0.00003
|
NM_001130987.2(DYSF):c.239+17G>C
|
rs757432005
|
0.00003
|
NM_001130987.2(DYSF):c.240-7C>T
|
rs746083673
|
0.00003
|
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)
|
rs749002214
|
0.00003
|
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)
|
rs769739410
|
0.00003
|
NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln)
|
rs763925689
|
0.00003
|
NM_001130987.2(DYSF):c.3165C>T (p.His1055=)
|
rs745672090
|
0.00003
|
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)
|
rs148925399
|
0.00003
|
NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=)
|
rs751571463
|
0.00003
|
NM_001130987.2(DYSF):c.4242C>T (p.Leu1414=)
|
rs952978128
|
0.00003
|
NM_001130987.2(DYSF):c.4388-8C>T
|
rs746630105
|
0.00003
|
NM_001130987.2(DYSF):c.4419C>T (p.Asp1473=)
|
rs374705038
|
0.00003
|
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)
|
rs367709130
|
0.00003
|
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=)
|
rs371231895
|
0.00003
|
NM_001130987.2(DYSF):c.4755+10C>T
|
rs139099979
|
0.00003
|
NM_001130987.2(DYSF):c.5003+8G>T
|
rs954327151
|
0.00003
|
NM_001130987.2(DYSF):c.5085C>T (p.Asp1695=)
|
rs375326769
|
0.00003
|
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys)
|
rs758206608
|
0.00003
|
NM_001130987.2(DYSF):c.5207G>A (p.Arg1736His)
|
rs777701226
|
0.00003
|
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)
|
rs531935195
|
0.00003
|
NM_001130987.2(DYSF):c.558A>G (p.Thr186=)
|
rs781732915
|
0.00003
|
NM_001130987.2(DYSF):c.5643-12A>G
|
rs375507062
|
0.00003
|
NM_001130987.2(DYSF):c.5682C>T (p.Asp1894=)
|
rs780040380
|
0.00003
|
NM_001130987.2(DYSF):c.5946C>G (p.Ser1982=)
|
rs140341988
|
0.00003
|
NM_001130987.2(DYSF):c.6070C>T (p.Leu2024=)
|
rs775417000
|
0.00003
|
NM_001130987.2(DYSF):c.6203C>A (p.Thr2068Asn)
|
rs1261660052
|
0.00003
|
NM_001130987.2(DYSF):c.6276C>T (p.Leu2092=)
|
rs1412512408
|
0.00003
|
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=)
|
rs139267208
|
0.00003
|
NM_001130987.2(DYSF):c.760-8G>C
|
rs748159785
|
0.00003
|
NM_001130987.2(DYSF):c.790C>T (p.Leu264=)
|
rs374682091
|
0.00003
|
NM_001130987.2(DYSF):c.828C>T (p.Thr276=)
|
rs376154300
|
0.00003
|
NM_001130987.2(DYSF):c.889-6C>T
|
rs370223980
|
0.00003
|
NM_001130987.2(DYSF):c.1077T>C (p.Asp359=)
|
rs761584106
|
0.00002
|
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)
|
rs527435707
|
0.00002
|
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu)
|
rs1268717670
|
0.00002
|
NM_001130987.2(DYSF):c.1380+20G>A
|
rs889139495
|
0.00002
|
NM_001130987.2(DYSF):c.1577-7C>T
|
rs767566865
|
0.00002
|
NM_001130987.2(DYSF):c.1668C>A (p.Pro556=)
|
rs180970066
|
0.00002
|
NM_001130987.2(DYSF):c.1806+10G>A
|
rs757667944
|
0.00002
|
NM_001130987.2(DYSF):c.1806+7G>A
|
rs758951311
|
0.00002
|
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)
|
rs769518034
|
0.00002
|
NM_001130987.2(DYSF):c.2070C>T (p.Ile690=)
|
rs746480529
|
0.00002
|
NM_001130987.2(DYSF):c.2134C>T (p.Leu712=)
|
rs985675157
|
0.00002
|
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)
|
rs570860273
|
0.00002
|
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys)
|
rs369209261
|
0.00002
|
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=)
|
rs773468156
|
0.00002
|
NM_001130987.2(DYSF):c.249G>C (p.Gly83=)
|
rs550993602
|
0.00002
|
NM_001130987.2(DYSF):c.254C>T (p.Ala85Val)
|
rs772008300
|
0.00002
|
NM_001130987.2(DYSF):c.2571G>A (p.Pro857=)
|
rs200494473
|
0.00002
|
NM_001130987.2(DYSF):c.2772C>T (p.Asp924=)
|
rs772806555
|
0.00002
|
NM_001130987.2(DYSF):c.2847C>T (p.Phe949=)
|
rs146006518
|
0.00002
|
NM_001130987.2(DYSF):c.2864+7C>T
|
rs770354145
|
0.00002
|
NM_001130987.2(DYSF):c.2979+16_2979+17del
|
rs761855675
|
0.00002
|
NM_001130987.2(DYSF):c.3024G>A (p.Leu1008=)
|
rs1553555439
|
0.00002
|
NM_001130987.2(DYSF):c.3053C>T (p.Ser1018Phe)
|
rs748720895
|
0.00002
|
NM_001130987.2(DYSF):c.3141T>G (p.Pro1047=)
|
rs780246050
|
0.00002
|
NM_001130987.2(DYSF):c.3229-18G>A
|
rs1365278928
|
0.00002
|
NM_001130987.2(DYSF):c.3246G>A (p.Ala1082=)
|
rs764414374
|
0.00002
|
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=)
|
rs945602962
|
0.00002
|
NM_001130987.2(DYSF):c.3402+19G>A
|
rs1026555167
|
0.00002
|
NM_001130987.2(DYSF):c.3434C>A (p.Ser1145Tyr)
|
rs755517171
|
0.00002
|
NM_001130987.2(DYSF):c.3441C>T (p.Ser1147=)
|
rs779624098
|
0.00002
|
NM_001130987.2(DYSF):c.3497-20T>C
|
rs1394263273
|
0.00002
|
NM_001130987.2(DYSF):c.3517C>T (p.Arg1173Cys)
|
rs372297758
|
0.00002
|
NM_001130987.2(DYSF):c.358C>T (p.Leu120=)
|
rs892412351
|
0.00002
|
NM_001130987.2(DYSF):c.3757-17C>T
|
rs757864395
|
0.00002
|
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr)
|
rs556134001
|
0.00002
|
NM_001130987.2(DYSF):c.3928-8T>C
|
rs765774189
|
0.00002
|
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=)
|
rs201966225
|
0.00002
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
0.00002
|
NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=)
|
rs555086420
|
0.00002
|
NM_001130987.2(DYSF):c.4260C>T (p.Thr1420=)
|
rs547886773
|
0.00002
|
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp)
|
rs774011358
|
0.00002
|
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=)
|
rs758538165
|
0.00002
|
NM_001130987.2(DYSF):c.4528-6A>G
|
rs775423013
|
0.00002
|
NM_001130987.2(DYSF):c.4755+19C>G
|
rs368894620
|
0.00002
|
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)
|
rs571364996
|
0.00002
|
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)
|
rs763309812
|
0.00002
|
NM_001130987.2(DYSF):c.5071C>G (p.Leu1691Val)
|
rs762970438
|
0.00002
|
NM_001130987.2(DYSF):c.5175-6C>T
|
rs1258841250
|
0.00002
|
NM_001130987.2(DYSF):c.5175-7T>C
|
rs764665728
|
0.00002
|
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=)
|
rs762447573
|
0.00002
|
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)
|
rs957111625
|
0.00002
|
NM_001130987.2(DYSF):c.5298A>G (p.Glu1766=)
|
rs769272706
|
0.00002
|
NM_001130987.2(DYSF):c.5546+11C>T
|
rs772485165
|
0.00002
|
NM_001130987.2(DYSF):c.5642+14G>A
|
rs377398673
|
0.00002
|
NM_001130987.2(DYSF):c.5784+9C>A
|
rs753986968
|
0.00002
|
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=)
|
rs772521748
|
0.00002
|
NM_001130987.2(DYSF):c.6058C>T (p.Leu2020=)
|
rs760685520
|
0.00002
|
NM_001130987.2(DYSF):c.6174-12T>G
|
rs760257417
|
0.00002
|
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp)
|
rs1271141178
|
0.00002
|
NM_001130987.2(DYSF):c.6322-10C>G
|
rs755660226
|
0.00002
|
NM_001130987.2(DYSF):c.759+10G>A
|
rs200198865
|
0.00002
|
NM_001130987.2(DYSF):c.774G>A (p.Val258=)
|
rs201797348
|
0.00002
|
NM_001130987.2(DYSF):c.798G>A (p.Gly266=)
|
rs138466537
|
0.00002
|
NM_001130987.2(DYSF):c.846G>A (p.Lys282=)
|
rs1176128443
|
0.00002
|
NM_001130987.2(DYSF):c.1003-10T>C
|
rs752397079
|
0.00001
|
NM_001130987.2(DYSF):c.1003-11A>G
|
rs975482363
|
0.00001
|
NM_001130987.2(DYSF):c.1003-17C>T
|
rs372843257
|
0.00001
|
NM_001130987.2(DYSF):c.1060C>T (p.Leu354=)
|
rs369378511
|
0.00001
|
NM_001130987.2(DYSF):c.1080C>T (p.Asp360=)
|
rs886044211
|
0.00001
|
NM_001130987.2(DYSF):c.1116C>T (p.Ser372=)
|
rs766891289
|
0.00001
|
NM_001130987.2(DYSF):c.114C>T (p.Val38=)
|
rs963586500
|
0.00001
|
NM_001130987.2(DYSF):c.1155G>A (p.Glu385=)
|
rs1400006082
|
0.00001
|
NM_001130987.2(DYSF):c.1167C>G (p.Pro389=)
|
rs886042490
|
0.00001
|
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)
|
rs375071568
|
0.00001
|
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)
|
rs746610724
|
0.00001
|
NM_001130987.2(DYSF):c.1269G>A (p.Leu423=)
|
rs774859639
|
0.00001
|
NM_001130987.2(DYSF):c.1272G>A (p.Pro424=)
|
rs544769503
|
0.00001
|
NM_001130987.2(DYSF):c.1276+10G>A
|
rs994622254
|
0.00001
|
NM_001130987.2(DYSF):c.1276+13C>T
|
rs373530549
|
0.00001
|
NM_001130987.2(DYSF):c.1276+9G>C
|
rs897697260
|
0.00001
|
NM_001130987.2(DYSF):c.1277-4C>G
|
rs760860539
|
0.00001
|
NM_001130987.2(DYSF):c.1347C>T (p.Asp449=)
|
rs1044542269
|
0.00001
|
NM_001130987.2(DYSF):c.135T>C (p.Pro45=)
|
rs886043852
|
0.00001
|
NM_001130987.2(DYSF):c.1381-20C>T
|
rs776806053
|
0.00001
|
NM_001130987.2(DYSF):c.1449+11T>C
|
rs548993658
|
0.00001
|
NM_001130987.2(DYSF):c.1493+13T>C
|
rs886056279
|
0.00001
|
NM_001130987.2(DYSF):c.1494-4C>G
|
rs377488411
|
0.00001
|
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met)
|
rs761279290
|
0.00001
|
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu)
|
rs139258703
|
0.00001
|
NM_001130987.2(DYSF):c.1545G>A (p.Ser515=)
|
rs755103680
|
0.00001
|
NM_001130987.2(DYSF):c.1576+16G>A
|
rs577128387
|
0.00001
|
NM_001130987.2(DYSF):c.1576+18T>C
|
rs768373625
|
0.00001
|
NM_001130987.2(DYSF):c.1576+7T>A
|
rs200990459
|
0.00001
|
NM_001130987.2(DYSF):c.1577-10T>C
|
rs371967475
|
0.00001
|
NM_001130987.2(DYSF):c.1577-1639G>C
|
rs767550929
|
0.00001
|
NM_001130987.2(DYSF):c.1577-1663G>A
|
rs760021808
|
0.00001
|
NM_001130987.2(DYSF):c.1577-1698G>A
|
rs754787004
|
0.00001
|
NM_001130987.2(DYSF):c.1577-4C>T
|
rs1206902174
|
0.00001
|
NM_001130987.2(DYSF):c.1599C>G (p.Leu533=)
|
rs765133641
|
0.00001
|
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser)
|
rs780677692
|
0.00001
|
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr)
|
rs749866053
|
0.00001
|
NM_001130987.2(DYSF):c.1674A>G (p.Thr558=)
|
rs147101870
|
0.00001
|
NM_001130987.2(DYSF):c.1686A>G (p.Thr562=)
|
rs1178474903
|
0.00001
|
NM_001130987.2(DYSF):c.1692+7C>T
|
rs775395972
|
0.00001
|
NM_001130987.2(DYSF):c.1692+8G>A
|
rs549810799
|
0.00001
|
NM_001130987.2(DYSF):c.1693-9C>T
|
rs1447501012
|
0.00001
|
NM_001130987.2(DYSF):c.1807-13T>C
|
rs756387775
|
0.00001
|
NM_001130987.2(DYSF):c.1857C>A (p.Ala619=)
|
rs2091067615
|
0.00001
|
NM_001130987.2(DYSF):c.1896G>A (p.Glu632=)
|
rs1360936643
|
0.00001
|
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)
|
rs550180529
|
0.00001
|
NM_001130987.2(DYSF):c.1984+9G>A
|
rs1375749923
|
0.00001
|
NM_001130987.2(DYSF):c.2040A>G (p.Ser680=)
|
rs1285165000
|
0.00001
|
NM_001130987.2(DYSF):c.2076T>A (p.Thr692=)
|
rs907221996
|
0.00001
|
NM_001130987.2(DYSF):c.2086C>T (p.Leu696=)
|
rs781763520
|
0.00001
|
NM_001130987.2(DYSF):c.2110-11C>G
|
rs780520305
|
0.00001
|
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=)
|
rs762651388
|
0.00001
|
NM_001130987.2(DYSF):c.216C>T (p.Asp72=)
|
rs1397538150
|
0.00001
|
NM_001130987.2(DYSF):c.2175G>A (p.Ser725=)
|
rs373820597
|
0.00001
|
NM_001130987.2(DYSF):c.2193G>A (p.Thr731=)
|
rs754423332
|
0.00001
|
NM_001130987.2(DYSF):c.2202C>T (p.Leu734=)
|
rs1304800163
|
0.00001
|
NM_001130987.2(DYSF):c.2217-12C>T
|
rs201786433
|
0.00001
|
NM_001130987.2(DYSF):c.2337C>T (p.Gly779=)
|
rs1266538564
|
0.00001
|
NM_001130987.2(DYSF):c.2382C>T (p.Leu794=)
|
rs376262937
|
0.00001
|
NM_001130987.2(DYSF):c.239+8G>A
|
rs980565746
|
0.00001
|
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=)
|
rs757613811
|
0.00001
|
NM_001130987.2(DYSF):c.2424G>T (p.Leu808=)
|
rs762226707
|
0.00001
|
NM_001130987.2(DYSF):c.246G>A (p.Leu82=)
|
rs756463088
|
0.00001
|
NM_001130987.2(DYSF):c.2487C>T (p.Ala829=)
|
rs1199331931
|
0.00001
|
NM_001130987.2(DYSF):c.2544G>A (p.Lys848=)
|
rs776934303
|
0.00001
|
NM_001130987.2(DYSF):c.2566-10T>C
|
rs1312909300
|
0.00001
|
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu)
|
rs146153109
|
0.00001
|
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=)
|
rs750999022
|
0.00001
|
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)
|
rs398123775
|
0.00001
|
NM_001130987.2(DYSF):c.2716T>C (p.Leu906=)
|
rs2092223294
|
0.00001
|
NM_001130987.2(DYSF):c.2754C>T (p.Thr918=)
|
rs2092225592
|
0.00001
|
NM_001130987.2(DYSF):c.2757C>T (p.Tyr919=)
|
rs200439327
|
0.00001
|
NM_001130987.2(DYSF):c.2864+10G>A
|
rs1338085640
|
0.00001
|
NM_001130987.2(DYSF):c.2886C>T (p.Ala962=)
|
rs776035565
|
0.00001
|
NM_001130987.2(DYSF):c.2901C>T (p.Phe967=)
|
rs767589708
|
0.00001
|
NM_001130987.2(DYSF):c.2946G>A (p.Gln982=)
|
rs770460209
|
0.00001
|
NM_001130987.2(DYSF):c.297C>T (p.Ser99=)
|
rs763710844
|
0.00001
|
NM_001130987.2(DYSF):c.2994G>A (p.Val998=)
|
rs921273781
|
0.00001
|
NM_001130987.2(DYSF):c.3060C>T (p.Asp1020=)
|
rs779224176
|
0.00001
|
NM_001130987.2(DYSF):c.3069G>A (p.Arg1023=)
|
rs771258366
|
0.00001
|
NM_001130987.2(DYSF):c.3075C>T (p.Val1025=)
|
rs776969552
|
0.00001
|
NM_001130987.2(DYSF):c.312C>G (p.Ala104=)
|
rs750834799
|
0.00001
|
NM_001130987.2(DYSF):c.3138C>G (p.Val1046=)
|
rs756490689
|
0.00001
|
NM_001130987.2(DYSF):c.315C>T (p.Pro105=)
|
rs1203731908
|
0.00001
|
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)
|
rs770883682
|
0.00001
|
NM_001130987.2(DYSF):c.3228+8A>C
|
rs749135257
|
0.00001
|
NM_001130987.2(DYSF):c.3229-4G>A
|
rs778918599
|
0.00001
|
NM_001130987.2(DYSF):c.3231C>T (p.His1077=)
|
rs772568748
|
0.00001
|
NM_001130987.2(DYSF):c.3318C>G (p.Ala1106=)
|
rs753777255
|
0.00001
|
NM_001130987.2(DYSF):c.3368G>A (p.Gly1123Glu)
|
rs148489131
|
0.00001
|
NM_001130987.2(DYSF):c.3387C>G (p.Ala1129=)
|
rs773406325
|
0.00001
|
NM_001130987.2(DYSF):c.3403-5T>C
|
rs748560095
|
0.00001
|
NM_001130987.2(DYSF):c.3403-8G>C
|
rs779448304
|
0.00001
|
NM_001130987.2(DYSF):c.3405C>T (p.Gly1135=)
|
rs367845844
|
0.00001
|
NM_001130987.2(DYSF):c.345+8C>T
|
rs780906230
|
0.00001
|
NM_001130987.2(DYSF):c.346-16G>A
|
rs576372858
|
0.00001
|
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)
|
rs576460368
|
0.00001
|
NM_001130987.2(DYSF):c.3492C>T (p.Phe1164=)
|
rs377407750
|
0.00001
|
NM_001130987.2(DYSF):c.3497-13T>C
|
rs759062827
|
0.00001
|
NM_001130987.2(DYSF):c.351G>A (p.Ser117=)
|
rs559097090
|
0.00001
|
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)
|
rs770648429
|
0.00001
|
NM_001130987.2(DYSF):c.3544C>T (p.Leu1182=)
|
rs1414071240
|
0.00001
|
NM_001130987.2(DYSF):c.354G>T (p.Leu118=)
|
rs1440131340
|
0.00001
|
NM_001130987.2(DYSF):c.3633C>T (p.Asn1211=)
|
rs745656518
|
0.00001
|
NM_001130987.2(DYSF):c.3660G>A (p.Thr1220=)
|
rs139897804
|
0.00001
|
NM_001130987.2(DYSF):c.3663C>T (p.Leu1221=)
|
rs748966868
|
0.00001
|
NM_001130987.2(DYSF):c.3669C>T (p.Phe1223=)
|
rs1352496725
|
0.00001
|
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=)
|
rs143393575
|
0.00001
|
NM_001130987.2(DYSF):c.3702A>G (p.Thr1234=)
|
rs2093465610
|
0.00001
|
NM_001130987.2(DYSF):c.3729G>T (p.Val1243=)
|
rs1553375366
|
0.00001
|
NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=)
|
rs375160101
|
0.00001
|
NM_001130987.2(DYSF):c.3757-10C>T
|
rs907822658
|
0.00001
|
NM_001130987.2(DYSF):c.3795G>A (p.Pro1265=)
|
rs922788254
|
0.00001
|
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)
|
rs753817458
|
0.00001
|
NM_001130987.2(DYSF):c.3807G>T (p.Arg1269=)
|
rs553948190
|
0.00001
|
NM_001130987.2(DYSF):c.3883A>C (p.Ile1295Leu)
|
rs555343068
|
0.00001
|
NM_001130987.2(DYSF):c.3906C>A (p.Ile1302=)
|
rs754355332
|
0.00001
|
NM_001130987.2(DYSF):c.3909C>T (p.His1303=)
|
rs765904804
|
0.00001
|
NM_001130987.2(DYSF):c.3928-12G>C
|
rs1322835903
|
0.00001
|
NM_001130987.2(DYSF):c.3928-15A>C
|
rs370454686
|
0.00001
|
NM_001130987.2(DYSF):c.3981C>T (p.Tyr1327=)
|
rs745549938
|
0.00001
|
NM_001130987.2(DYSF):c.4059+8G>A
|
rs770831705
|
0.00001
|
NM_001130987.2(DYSF):c.4060-5C>T
|
rs754635537
|
0.00001
|
NM_001130987.2(DYSF):c.4060-7T>A
|
rs753614306
|
0.00001
|
NM_001130987.2(DYSF):c.4146G>A (p.Gln1382=)
|
rs1456392109
|
0.00001
|
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met)
|
rs149182447
|
0.00001
|
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)
|
rs566381009
|
0.00001
|
NM_001130987.2(DYSF):c.4155G>A (p.Gln1385=)
|
rs781656007
|
0.00001
|
NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp)
|
rs368601323
|
0.00001
|
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=)
|
rs774464702
|
0.00001
|
NM_001130987.2(DYSF):c.4221+10A>G
|
rs1448201474
|
0.00001
|
NM_001130987.2(DYSF):c.4221+11C>T
|
rs1306793523
|
0.00001
|
NM_001130987.2(DYSF):c.4221+7C>T
|
rs765049772
|
0.00001
|
NM_001130987.2(DYSF):c.4222-8C>T
|
rs772066982
|
0.00001
|
NM_001130987.2(DYSF):c.4302G>C (p.Val1434=)
|
rs560018212
|
0.00001
|
NM_001130987.2(DYSF):c.4329G>C (p.Leu1443=)
|
rs1290365271
|
0.00001
|
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)
|
rs144072850
|
0.00001
|
NM_001130987.2(DYSF):c.4350C>G (p.Pro1450=)
|
rs897596810
|
0.00001
|
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)
|
rs368451006
|
0.00001
|
NM_001130987.2(DYSF):c.435T>G (p.Thr145=)
|
rs1305158929
|
0.00001
|
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)
|
rs758226677
|
0.00001
|
NM_001130987.2(DYSF):c.4458C>G (p.Pro1486=)
|
rs777688424
|
0.00001
|
NM_001130987.2(DYSF):c.445C>T (p.Leu149=)
|
rs1339045360
|
0.00001
|
NM_001130987.2(DYSF):c.4464+18C>T
|
rs1346300032
|
0.00001
|
NM_001130987.2(DYSF):c.4464+8G>A
|
rs745311207
|
0.00001
|
NM_001130987.2(DYSF):c.460+9C>A
|
rs1052225757
|
0.00001
|
NM_001130987.2(DYSF):c.4644G>A (p.Leu1548=)
|
rs750871731
|
0.00001
|
NM_001130987.2(DYSF):c.4671G>A (p.Leu1557=)
|
rs749333686
|
0.00001
|
NM_001130987.2(DYSF):c.4696C>T (p.Leu1566=)
|
rs1227092922
|
0.00001
|
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=)
|
rs775026383
|
0.00001
|
NM_001130987.2(DYSF):c.4734A>G (p.Pro1578=)
|
rs1168024300
|
0.00001
|
NM_001130987.2(DYSF):c.4755+8C>T
|
rs1278005040
|
0.00001
|
NM_001130987.2(DYSF):c.4797C>T (p.Ile1599=)
|
rs551195286
|
0.00001
|
NM_001130987.2(DYSF):c.4806C>T (p.Pro1602=)
|
rs774070544
|
0.00001
|
NM_001130987.2(DYSF):c.4842C>T (p.Pro1614=)
|
rs766968114
|
0.00001
|
NM_001130987.2(DYSF):c.4917T>C (p.Asp1639=)
|
rs780604882
|
0.00001
|
NM_001130987.2(DYSF):c.4923C>T (p.Tyr1641=)
|
rs376679461
|
0.00001
|
NM_001130987.2(DYSF):c.4992C>T (p.Pro1664=)
|
rs369004367
|
0.00001
|
NM_001130987.2(DYSF):c.5028G>A (p.Leu1676=)
|
rs368302435
|
0.00001
|
NM_001130987.2(DYSF):c.5037G>A (p.Glu1679=)
|
rs1383288665
|
0.00001
|
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=)
|
rs2094956948
|
0.00001
|
NM_001130987.2(DYSF):c.5070C>T (p.Asp1690=)
|
rs1382607412
|
0.00001
|
NM_001130987.2(DYSF):c.5097T>A (p.Gly1699=)
|
rs779293276
|
0.00001
|
NM_001130987.2(DYSF):c.5103G>A (p.Thr1701=)
|
rs758713393
|
0.00001
|
NM_001130987.2(DYSF):c.5106C>T (p.Val1702=)
|
rs778238756
|
0.00001
|
NM_001130987.2(DYSF):c.5107G>A (p.Val1703Ile)
|
rs747210644
|
0.00001
|
NM_001130987.2(DYSF):c.5109C>T (p.Val1703=)
|
rs771336218
|
0.00001
|
NM_001130987.2(DYSF):c.5154A>G (p.Gly1718=)
|
rs1210820177
|
0.00001
|
NM_001130987.2(DYSF):c.5208C>T (p.Arg1736=)
|
rs752860060
|
0.00001
|
NM_001130987.2(DYSF):c.5211C>G (p.Pro1737=)
|
rs1442864455
|
0.00001
|
NM_001130987.2(DYSF):c.5226C>T (p.His1742=)
|
rs997793741
|
0.00001
|
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=)
|
rs1573061003
|
0.00001
|
NM_001130987.2(DYSF):c.5318-7G>C
|
rs760909506
|
0.00001
|
NM_001130987.2(DYSF):c.5318-8T>C
|
rs773795577
|
0.00001
|
NM_001130987.2(DYSF):c.5361G>A (p.Glu1787=)
|
rs140812535
|
0.00001
|
NM_001130987.2(DYSF):c.5403G>A (p.Pro1801=)
|
rs771738959
|
0.00001
|
NM_001130987.2(DYSF):c.5409C>T (p.His1803=)
|
rs375787986
|
0.00001
|
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)
|
rs763198861
|
0.00001
|
NM_001130987.2(DYSF):c.5433C>T (p.Ser1811=)
|
rs200879908
|
0.00001
|
NM_001130987.2(DYSF):c.5454G>A (p.Glu1818=)
|
rs2095036831
|
0.00001
|
NM_001130987.2(DYSF):c.5458-5C>T
|
rs780391061
|
0.00001
|
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=)
|
rs759536240
|
0.00001
|
NM_001130987.2(DYSF):c.5526C>T (p.Ile1842=)
|
rs375696757
|
0.00001
|
NM_001130987.2(DYSF):c.554-8C>T
|
rs1257627361
|
0.00001
|
NM_001130987.2(DYSF):c.5556G>A (p.Leu1852=)
|
rs2095071509
|
0.00001
|
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys)
|
rs201592500
|
0.00001
|
NM_001130987.2(DYSF):c.5642+13C>T
|
rs745964080
|
0.00001
|
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=)
|
rs780923865
|
0.00001
|
NM_001130987.2(DYSF):c.5793C>T (p.Phe1931=)
|
rs757197206
|
0.00001
|
NM_001130987.2(DYSF):c.5829A>G (p.Ala1943=)
|
rs748766120
|
0.00001
|
NM_001130987.2(DYSF):c.5838G>A (p.Val1946=)
|
rs780912992
|
0.00001
|
NM_001130987.2(DYSF):c.5855A>G (p.Asn1952Ser)
|
rs747351345
|
0.00001
|
NM_001130987.2(DYSF):c.588A>G (p.Gly196=)
|
rs141002437
|
0.00001
|
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr)
|
rs759198745
|
0.00001
|
NM_001130987.2(DYSF):c.6064-8C>G
|
rs375157612
|
0.00001
|
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)
|
rs398123791
|
0.00001
|
NM_001130987.2(DYSF):c.6082T>C (p.Leu2028=)
|
rs188223743
|
0.00001
|
NM_001130987.2(DYSF):c.616C>T (p.Leu206=)
|
rs780606842
|
0.00001
|
NM_001130987.2(DYSF):c.6174-8G>A
|
rs777167646
|
0.00001
|
NM_001130987.2(DYSF):c.6218C>A (p.Thr2073Asn)
|
rs771663815
|
0.00001
|
NM_001130987.2(DYSF):c.6249G>T (p.Arg2083=)
|
rs886042758
|
0.00001
|
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=)
|
rs1308247360
|
0.00001
|
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=)
|
rs539234900
|
0.00001
|
NM_001130987.2(DYSF):c.6270C>T (p.Ile2090=)
|
rs1231224348
|
0.00001
|
NM_001130987.2(DYSF):c.627C>T (p.Ser209=)
|
rs780331854
|
0.00001
|
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=)
|
rs561011151
|
0.00001
|
NM_001130987.2(DYSF):c.6283C>T (p.Leu2095=)
|
rs201725164
|
0.00001
|
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=)
|
rs754852745
|
0.00001
|
NM_001130987.2(DYSF):c.6309C>T (p.Ile2103=)
|
rs758160528
|
0.00001
|
NM_001130987.2(DYSF):c.6322-7C>T
|
rs749806665
|
0.00001
|
NM_001130987.2(DYSF):c.636G>A (p.Pro212=)
|
rs185711021
|
0.00001
|
NM_001130987.2(DYSF):c.663A>G (p.Leu221=)
|
rs1225760969
|
0.00001
|
NM_001130987.2(DYSF):c.678G>A (p.Pro226=)
|
rs779321489
|
0.00001
|
NM_001130987.2(DYSF):c.687C>T (p.Tyr229=)
|
rs564416027
|
0.00001
|
NM_001130987.2(DYSF):c.693G>A (p.Gly231=)
|
rs775544808
|
0.00001
|
NM_001130987.2(DYSF):c.714G>A (p.Ala238=)
|
rs546706280
|
0.00001
|
NM_001130987.2(DYSF):c.724A>C (p.Arg242=)
|
rs755541995
|
0.00001
|
NM_001130987.2(DYSF):c.735G>A (p.Leu245=)
|
rs748463150
|
0.00001
|
NM_001130987.2(DYSF):c.759+9C>T
|
rs761537567
|
0.00001
|
NM_001130987.2(DYSF):c.849G>C (p.Arg283=)
|
rs2086581716
|
0.00001
|
NM_001130987.2(DYSF):c.888+10A>G
|
rs745505535
|
0.00001
|
NM_001130987.2(DYSF):c.888+7G>C
|
rs369722261
|
0.00001
|
NM_001130987.2(DYSF):c.930T>C (p.Phe310=)
|
rs2086636021
|
0.00001
|
NM_001130987.2(DYSF):c.954G>T (p.Val318=)
|
rs753987509
|
0.00001
|
NM_001130987.2(DYSF):c.960C>T (p.Asp320=)
|
rs771325384
|
0.00001
|
NM_001130987.2(DYSF):c.966T>C (p.Arg322=)
|
rs759748502
|
0.00001
|
NM_001130987.2(DYSF):c.999C>T (p.Phe333=)
|
rs367878277
|
0.00001
|
NM_003494.4(DYSF):c.27C>G (p.Ala9=)
|
rs771520271
|
0.00001
|
NM_003494.4(DYSF):c.39C>T (p.His13=)
|
rs1005614411
|
0.00001
|
NM_003494.4(DYSF):c.42A>G (p.Thr14=)
|
rs1017462889
|
0.00001
|
NM_003494.4(DYSF):c.51C>T (p.Thr17=)
|
rs763030202
|
0.00001
|
NM_001130987.2(DYSF):c.1002+14T>C
|
|
|
NM_001130987.2(DYSF):c.1002+15T>C
|
rs529992457
|
|
NM_001130987.2(DYSF):c.1002+8C>T
|
|
|
NM_001130987.2(DYSF):c.1003-12C>T
|
|
|
NM_001130987.2(DYSF):c.1003-14C>G
|
|
|
NM_001130987.2(DYSF):c.1003-6T>C
|
rs2152741412
|
|
NM_001130987.2(DYSF):c.1011G>A (p.Val337=)
|
rs1573697664
|
|
NM_001130987.2(DYSF):c.1026A>G (p.Arg342=)
|
|
|
NM_001130987.2(DYSF):c.1033+11dup
|
|
|
NM_001130987.2(DYSF):c.1033+15C>T
|
|
|
NM_001130987.2(DYSF):c.1034-17G>C
|
|
|
NM_001130987.2(DYSF):c.1035G>T (p.Arg345=)
|
|
|
NM_001130987.2(DYSF):c.1041C>A (p.Ala347=)
|
rs1553525671
|
|
NM_001130987.2(DYSF):c.1047C>G (p.Leu349=)
|
|
|
NM_001130987.2(DYSF):c.1047C>T (p.Leu349=)
|
|
|
NM_001130987.2(DYSF):c.1057C>T (p.Leu353=)
|
rs752460236
|
|
NM_001130987.2(DYSF):c.1089T>C (p.Ala363=)
|
rs2152742250
|
|
NM_001130987.2(DYSF):c.108C>A (p.Thr36=)
|
|
|
NM_001130987.2(DYSF):c.1092G>A (p.Gly364=)
|
rs2152742258
|
|
NM_001130987.2(DYSF):c.111A>G (p.Lys37=)
|
rs1316230143
|
|
NM_001130987.2(DYSF):c.1128G>A (p.Leu376=)
|
|
|
NM_001130987.2(DYSF):c.1128G>C (p.Leu376=)
|
|
|
NM_001130987.2(DYSF):c.1131G>A (p.Gly377=)
|
|
|
NM_001130987.2(DYSF):c.1146G>C (p.Ala382=)
|
rs749288662
|
|
NM_001130987.2(DYSF):c.1146G>T (p.Ala382=)
|
|
|
NM_001130987.2(DYSF):c.1149+10T>A
|
|
|
NM_001130987.2(DYSF):c.1149+16T>C
|
|
|
NM_001130987.2(DYSF):c.1149+17G>A
|
|
|
NM_001130987.2(DYSF):c.1149+19del
|
|
|
NM_001130987.2(DYSF):c.1149+7A>T
|
rs771741504
|
|
NM_001130987.2(DYSF):c.1149+9A>G
|
rs1573704374
|
|
NM_001130987.2(DYSF):c.114C>A (p.Val38=)
|
rs963586500
|
|
NM_001130987.2(DYSF):c.1150-20G>C
|
|
|
NM_001130987.2(DYSF):c.1165C>T (p.Pro389Ser)
|
|
|
NM_001130987.2(DYSF):c.1167C>T (p.Pro389=)
|
rs886042490
|
|
NM_001130987.2(DYSF):c.1185C>T (p.Asp395=)
|
rs2152748548
|
|
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=)
|
rs781380886
|
|
NM_001130987.2(DYSF):c.1200G>C (p.Leu400=)
|
rs764593587
|
|
NM_001130987.2(DYSF):c.1203C>T (p.Leu401=)
|
|
|
NM_001130987.2(DYSF):c.120G>A (p.Lys40=)
|
rs2082829925
|
|
NM_001130987.2(DYSF):c.1210A>G (p.Thr404Ala)
|
|
|
NM_001130987.2(DYSF):c.1215C>A (p.Gly405=)
|
|
|
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)
|
rs754820811
|
|
NM_001130987.2(DYSF):c.1216G>A (p.Val406Ile)
|
|
|
NM_001130987.2(DYSF):c.1218A>T (p.Val406=)
|
|
|
NM_001130987.2(DYSF):c.1221C>T (p.Ala407=)
|
rs932501116
|
|
NM_001130987.2(DYSF):c.1224G>A (p.Leu408=)
|
rs2152748611
|
|
NM_001130987.2(DYSF):c.1224G>T (p.Leu408=)
|
|
|
NM_001130987.2(DYSF):c.1226G>A (p.Arg409Gln)
|
|
|
NM_001130987.2(DYSF):c.1227A>G (p.Arg409=)
|
rs915460671
|
|
NM_001130987.2(DYSF):c.1233C>T (p.Ala411=)
|
|
|
NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr)
|
|
|
NM_001130987.2(DYSF):c.1243C>T (p.Leu415=)
|
rs2152748650
|
|
NM_001130987.2(DYSF):c.1251C>G (p.Val417=)
|
|
|
NM_001130987.2(DYSF):c.1251C>T (p.Val417=)
|
rs2152748659
|
|
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln)
|
rs776036392
|
|
NM_001130987.2(DYSF):c.1260C>A (p.Ala420=)
|
rs764542175
|
|
NM_001130987.2(DYSF):c.1260C>G (p.Ala420=)
|
rs764542175
|
|
NM_001130987.2(DYSF):c.1260C>T (p.Ala420=)
|
rs764542175
|
|
NM_001130987.2(DYSF):c.1266C>T (p.Asp422=)
|
|
|
NM_001130987.2(DYSF):c.1276+12G>A
|
rs906028906
|
|
NM_001130987.2(DYSF):c.1276+12G>T
|
|
|
NM_001130987.2(DYSF):c.1276+15C>T
|
|
|
NM_001130987.2(DYSF):c.1276+18T>C
|
|
|
NM_001130987.2(DYSF):c.1276+9G>A
|
rs897697260
|
|
NM_001130987.2(DYSF):c.1277-14G>A
|
|
|
NM_001130987.2(DYSF):c.1277-17del
|
|
|
NM_001130987.2(DYSF):c.1277-18G>C
|
|
|
NM_001130987.2(DYSF):c.1277-20T>C
|
|
|
NM_001130987.2(DYSF):c.1284T>C (p.Asp428=)
|
|
|
NM_001130987.2(DYSF):c.1290G>A (p.Val430=)
|
|
|
NM_001130987.2(DYSF):c.1290G>T (p.Val430=)
|
|
|
NM_001130987.2(DYSF):c.129G>A (p.Val43=)
|
rs2152680557
|
|
NM_001130987.2(DYSF):c.1305A>G (p.Lys435=)
|
rs2152751254
|
|
NM_001130987.2(DYSF):c.1314T>C (p.Phe438=)
|
rs762255707
|
|
NM_001130987.2(DYSF):c.1317C>A (p.Gly439=)
|
rs1267921215
|
|
NM_001130987.2(DYSF):c.1329C>T (p.Asn443=)
|
rs143355224
|
|
NM_001130987.2(DYSF):c.132C>T (p.Asn44=)
|
|
|
NM_001130987.2(DYSF):c.1338C>T (p.Asn446=)
|
|
|
NM_001130987.2(DYSF):c.1350C>G (p.Pro450=)
|
|
|
NM_001130987.2(DYSF):c.1359G>A (p.Glu453=)
|
rs2152751330
|
|
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=)
|
rs140667960
|
|
NM_001130987.2(DYSF):c.1371G>C (p.Ala457=)
|
rs140667960
|
|
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=)
|
rs771092045
|
|
NM_001130987.2(DYSF):c.1380+12G>T
|
|
|
NM_001130987.2(DYSF):c.1380+8G>A
|
|
|
NM_001130987.2(DYSF):c.1380+8G>T
|
|
|
NM_001130987.2(DYSF):c.1380+9C>G
|
|
|
NM_001130987.2(DYSF):c.1380+9C>T
|
rs1573760922
|
|
NM_001130987.2(DYSF):c.1381-12T>C
|
|
|
NM_001130987.2(DYSF):c.1381-19C>T
|
|
|
NM_001130987.2(DYSF):c.1383G>A (p.Leu461=)
|
|
|
NM_001130987.2(DYSF):c.138A>G (p.Val46=)
|
|
|
NM_001130987.2(DYSF):c.1395C>A (p.Ile465=)
|
rs1255740798
|
|
NM_001130987.2(DYSF):c.1407G>T (p.Thr469=)
|
|
|
NM_001130987.2(DYSF):c.1419G>A (p.Gln473=)
|
rs2152761012
|
|
NM_001130987.2(DYSF):c.1425C>T (p.Asn475=)
|
rs2152761017
|
|
NM_001130987.2(DYSF):c.1431C>T (p.Asn477=)
|
rs1461796591
|
|
NM_001130987.2(DYSF):c.1437A>C (p.Thr479=)
|
|
|
NM_001130987.2(DYSF):c.1438C>T (p.Leu480=)
|
|
|
NM_001130987.2(DYSF):c.1440G>A (p.Leu480=)
|
rs1311070634
|
|
NM_001130987.2(DYSF):c.1440G>C (p.Leu480=)
|
|
|
NM_001130987.2(DYSF):c.1443T>C (p.Pro481=)
|
rs2152761051
|
|
NM_001130987.2(DYSF):c.1449+11T>G
|
|
|
NM_001130987.2(DYSF):c.1449+15C>G
|
|
|
NM_001130987.2(DYSF):c.1449+16C>G
|
|
|
NM_001130987.2(DYSF):c.1449+19_1449+35del
|
|
|
NM_001130987.2(DYSF):c.1449+7C>A
|
|
|
NM_001130987.2(DYSF):c.1449+7C>G
|
rs199608017
|
|
NM_001130987.2(DYSF):c.1449+9C>T
|
rs2089175621
|
|
NM_001130987.2(DYSF):c.1450-14T>C
|
|
|
NM_001130987.2(DYSF):c.1450-16T>C
|
|
|
NM_001130987.2(DYSF):c.1450-19G>A
|
|
|
NM_001130987.2(DYSF):c.1450-6C>T
|
rs757776087
|
|
NM_001130987.2(DYSF):c.1450-7T>C
|
rs2089201975
|
|
NM_001130987.2(DYSF):c.1464C>T (p.Cys488=)
|
rs202044973
|
|
NM_001130987.2(DYSF):c.147+6dup
|
|
|
NM_001130987.2(DYSF):c.148-17T>G
|
|
|
NM_001130987.2(DYSF):c.148-20C>T
|
|
|
NM_001130987.2(DYSF):c.148-7del
|
|
|
NM_001130987.2(DYSF):c.148-9T>C
|
rs779606200
|
|
NM_001130987.2(DYSF):c.1491C>T (p.Asp497=)
|
|
|
NM_001130987.2(DYSF):c.1493+11A>G
|
|
|
NM_001130987.2(DYSF):c.1493+14C>T
|
|
|
NM_001130987.2(DYSF):c.1493+7del
|
rs2089209523
|
|
NM_001130987.2(DYSF):c.1494-10C>T
|
|
|
NM_001130987.2(DYSF):c.1494-12C>T
|
|
|
NM_001130987.2(DYSF):c.1494-17C>G
|
|
|
NM_001130987.2(DYSF):c.1494-4C>T
|
rs377488411
|
|
NM_001130987.2(DYSF):c.1494-7G>A
|
|
|
NM_001130987.2(DYSF):c.1494-9T>G
|
|
|
NM_001130987.2(DYSF):c.1501C>T (p.Leu501=)
|
|
|
NM_001130987.2(DYSF):c.1521G>A (p.Val507=)
|
|
|
NM_001130987.2(DYSF):c.1523C>T (p.Ala508Val)
|
|
|
NM_001130987.2(DYSF):c.1533C>T (p.Tyr511=)
|
rs2152766938
|
|
NM_001130987.2(DYSF):c.1534C>T (p.Leu512=)
|
rs2152766942
|
|
NM_001130987.2(DYSF):c.1536G>A (p.Leu512=)
|
|
|
NM_001130987.2(DYSF):c.1536G>T (p.Leu512=)
|
|
|
NM_001130987.2(DYSF):c.1539T>C (p.Ser513=)
|
rs2152766953
|
|
NM_001130987.2(DYSF):c.1556C>T (p.Ala519Val)
|
|
|
NM_001130987.2(DYSF):c.1566A>G (p.Gly522=)
|
|
|
NM_001130987.2(DYSF):c.156A>G (p.Glu52=)
|
|
|
NM_001130987.2(DYSF):c.1576+10C>T
|
rs2152767049
|
|
NM_001130987.2(DYSF):c.1576+15C>T
|
|
|
NM_001130987.2(DYSF):c.1576+8C>T
|
|
|
NM_001130987.2(DYSF):c.1576+9C>T
|
rs1257070622
|
|
NM_001130987.2(DYSF):c.1577-11G>T
|
|
|
NM_001130987.2(DYSF):c.1577-14C>T
|
|
|
NM_001130987.2(DYSF):c.1577-15A>G
|
rs2152786840
|
|
NM_001130987.2(DYSF):c.1577-1630G>A
|
|
|
NM_001130987.2(DYSF):c.1577-1633T>A
|
|
|
NM_001130987.2(DYSF):c.1577-1633T>C
|
|
|
NM_001130987.2(DYSF):c.1577-1633T>G
|
|
|
NM_001130987.2(DYSF):c.1577-1635C>T
|
|
|
NM_001130987.2(DYSF):c.1577-1638T>C
|
|
|
NM_001130987.2(DYSF):c.1577-1640T>C
|
|
|
NM_001130987.2(DYSF):c.1577-1642G>A
|
|
|
NM_001130987.2(DYSF):c.1577-1698del
|
rs2152783819
|
|
NM_001130987.2(DYSF):c.1577-1701T>C
|
rs201701337
|
|
NM_001130987.2(DYSF):c.1577-1706T>G
|
|
|
NM_001130987.2(DYSF):c.1577-17C>A
|
|
|
NM_001130987.2(DYSF):c.1577-17C>T
|
|
|
NM_001130987.2(DYSF):c.1577-6T>C
|
|
|
NM_001130987.2(DYSF):c.1577-9G>A
|
|
|
NM_001130987.2(DYSF):c.1587C>T (p.Tyr529=)
|
|
|
NM_001130987.2(DYSF):c.1599C>T (p.Leu533=)
|
|
|
NM_001130987.2(DYSF):c.1602C>G (p.Pro534=)
|
rs755709561
|
|
NM_001130987.2(DYSF):c.1623C>T (p.Ile541=)
|
|
|
NM_001130987.2(DYSF):c.1629C>A (p.Leu543=)
|
rs2152786985
|
|
NM_001130987.2(DYSF):c.162C>T (p.Asp54=)
|
rs755413969
|
|
NM_001130987.2(DYSF):c.1635C>A (p.Gly545=)
|
|
|
NM_001130987.2(DYSF):c.1641C>A (p.Pro547=)
|
|
|
NM_001130987.2(DYSF):c.1650C>T (p.Phe550=)
|
|
|
NM_001130987.2(DYSF):c.1659C>T (p.Phe553=)
|
|
|
NM_001130987.2(DYSF):c.1671C>T (p.Tyr557=)
|
|
|
NM_001130987.2(DYSF):c.1674A>C (p.Thr558=)
|
|
|
NM_001130987.2(DYSF):c.168G>A (p.Lys56=)
|
|
|
NM_001130987.2(DYSF):c.1692+13G>A
|
|
|
NM_001130987.2(DYSF):c.1692+15G>A
|
|
|
NM_001130987.2(DYSF):c.1692+16C>T
|
|
|
NM_001130987.2(DYSF):c.1692+20G>C
|
|
|
NM_001130987.2(DYSF):c.1692+9G>C
|
rs2152787133
|
|
NM_001130987.2(DYSF):c.1693-11C>A
|
|
|
NM_001130987.2(DYSF):c.1693-11C>T
|
|
|
NM_001130987.2(DYSF):c.1693-12C>T
|
|
|
NM_001130987.2(DYSF):c.1693-17C>G
|
|
|
NM_001130987.2(DYSF):c.1693-17C>T
|
|
|
NM_001130987.2(DYSF):c.1704G>A (p.Val568=)
|
rs2152787950
|
|
NM_001130987.2(DYSF):c.1713T>C (p.Arg571=)
|
rs2152787978
|
|
NM_001130987.2(DYSF):c.1716C>T (p.Gly572=)
|
rs1559138079
|
|
NM_001130987.2(DYSF):c.1728C>T (p.Leu576=)
|
|
|
NM_001130987.2(DYSF):c.1731C>A (p.Ser577=)
|
|
|
NM_001130987.2(DYSF):c.1740C>G (p.Thr580=)
|
rs1206191370
|
|
NM_001130987.2(DYSF):c.1744C>T (p.Leu582=)
|
|
|
NM_001130987.2(DYSF):c.1746G>C (p.Leu582=)
|
rs1674092066
|
|
NM_001130987.2(DYSF):c.174C>A (p.Ile58=)
|
rs1478264060
|
|
NM_001130987.2(DYSF):c.1758T>C (p.Ser586=)
|
|
|
NM_001130987.2(DYSF):c.1761A>G (p.Glu587=)
|
rs2152788050
|
|
NM_001130987.2(DYSF):c.1764G>A (p.Gln588=)
|
rs2152788061
|
|
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu)
|
rs566595009
|
|
NM_001130987.2(DYSF):c.1776C>T (p.Asp592=)
|
|
|
NM_001130987.2(DYSF):c.177C>T (p.Pro59=)
|
rs2082943716
|
|
NM_001130987.2(DYSF):c.1782T>G (p.Pro594=)
|
|
|
NM_001130987.2(DYSF):c.1794C>T (p.Ile598=)
|
|
|
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.1803G>A (p.Val601=)
|
rs562084504
|
|
NM_001130987.2(DYSF):c.1806+7G>C
|
rs758951311
|
|
NM_001130987.2(DYSF):c.1806+8G>A
|
|
|
NM_001130987.2(DYSF):c.1806+9T>A
|
|
|
NM_001130987.2(DYSF):c.1807-14C>T
|
|
|
NM_001130987.2(DYSF):c.1807-15A>G
|
|
|
NM_001130987.2(DYSF):c.1807-20G>T
|
|
|
NM_001130987.2(DYSF):c.1807-5C>A
|
|
|
NM_001130987.2(DYSF):c.1807-7C>T
|
|
|
NM_001130987.2(DYSF):c.1807-9T>C
|
rs2152790570
|
|
NM_001130987.2(DYSF):c.1824C>G (p.Arg608=)
|
rs2091064936
|
|
NM_001130987.2(DYSF):c.1830C>T (p.Tyr610=)
|
rs2152790652
|
|
NM_001130987.2(DYSF):c.1842G>A (p.Ala614=)
|
|
|
NM_001130987.2(DYSF):c.1860C>A (p.Thr620=)
|
|
|
NM_001130987.2(DYSF):c.1860C>T (p.Thr620=)
|
|
|
NM_001130987.2(DYSF):c.1872T>C (p.Asp624=)
|
rs2091069583
|
|
NM_001130987.2(DYSF):c.1875G>A (p.Val625=)
|
rs766588008
|
|
NM_001130987.2(DYSF):c.1883C>G (p.Ala628Gly)
|
|
|
NM_001130987.2(DYSF):c.1890G>A (p.Gln630=)
|
rs2152790814
|
|
NM_001130987.2(DYSF):c.1908G>A (p.Gly636=)
|
|
|
NM_001130987.2(DYSF):c.1911C>T (p.Asn637=)
|
rs2091073337
|
|
NM_001130987.2(DYSF):c.1917G>C (p.Gly639=)
|
|
|
NM_001130987.2(DYSF):c.1938C>T (p.Cys646=)
|
rs1384389868
|
|
NM_001130987.2(DYSF):c.1939C>T (p.Leu647=)
|
rs768043804
|
|
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.1956C>T (p.Thr652=)
|
|
|
NM_001130987.2(DYSF):c.1959T>G (p.Thr653=)
|
rs2152790987
|
|
NM_001130987.2(DYSF):c.195G>A (p.Glu65=)
|
|
|
NM_001130987.2(DYSF):c.1962G>A (p.Gln654=)
|
|
|
NM_001130987.2(DYSF):c.1974A>G (p.Ala658=)
|
|
|
NM_001130987.2(DYSF):c.1977C>T (p.Val659=)
|
|
|
NM_001130987.2(DYSF):c.1984+14C>T
|
|
|
NM_001130987.2(DYSF):c.1984+19C>T
|
|
|
NM_001130987.2(DYSF):c.1984+8A>T
|
rs2152791044
|
|
NM_001130987.2(DYSF):c.1985-15G>A
|
rs146407633
|
|
NM_001130987.2(DYSF):c.1985-16C>A
|
|
|
NM_001130987.2(DYSF):c.1985-17C>T
|
|
|
NM_001130987.2(DYSF):c.1985-18C>A
|
|
|
NM_001130987.2(DYSF):c.1985-18C>T
|
|
|
NM_001130987.2(DYSF):c.1985-7A>G
|
|
|
NM_001130987.2(DYSF):c.1985-8del
|
|
|
NM_001130987.2(DYSF):c.1986G>A (p.Gly662=)
|
|
|
NM_001130987.2(DYSF):c.1999T>C (p.Tyr667His)
|
|
|
NM_001130987.2(DYSF):c.2001C>T (p.Tyr667=)
|
|
|
NM_001130987.2(DYSF):c.2007C>G (p.Pro669=)
|
rs1553544209
|
|
NM_001130987.2(DYSF):c.201T>C (p.His67=)
|
|
|
NM_001130987.2(DYSF):c.2028G>A (p.Val676=)
|
rs2091143475
|
|
NM_001130987.2(DYSF):c.2031G>A (p.Val677=)
|
|
|
NM_001130987.2(DYSF):c.2037G>A (p.Leu679=)
|
|
|
NM_001130987.2(DYSF):c.2046C>T (p.Tyr682=)
|
rs2152792555
|
|
NM_001130987.2(DYSF):c.2052G>A (p.Glu684=)
|
|
|
NM_001130987.2(DYSF):c.2058C>T (p.Ile686=)
|
rs938649493
|
|
NM_001130987.2(DYSF):c.2061C>T (p.Ser687=)
|
rs2152792575
|
|
NM_001130987.2(DYSF):c.2064T>C (p.His688=)
|
rs2152792591
|
|
NM_001130987.2(DYSF):c.2070C>A (p.Ile690=)
|
|
|
NM_001130987.2(DYSF):c.2082C>T (p.Asn694=)
|
|
|
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)
|
rs770228554
|
|
NM_001130987.2(DYSF):c.2106G>T (p.Arg702=)
|
rs2152792698
|
|
NM_001130987.2(DYSF):c.2109+11A>C
|
|
|
NM_001130987.2(DYSF):c.2109+12C>G
|
|
|
NM_001130987.2(DYSF):c.2109+12C>T
|
|
|
NM_001130987.2(DYSF):c.2109+16C>G
|
|
|
NM_001130987.2(DYSF):c.2110-10C>G
|
|
|
NM_001130987.2(DYSF):c.2110-10C>T
|
|
|
NM_001130987.2(DYSF):c.2110-11C>T
|
|
|
NM_001130987.2(DYSF):c.2110-12C>T
|
|
|
NM_001130987.2(DYSF):c.2110-15C>T
|
|
|
NM_001130987.2(DYSF):c.2110-5C>A
|
|
|
NM_001130987.2(DYSF):c.2110-9A>G
|
|
|
NM_001130987.2(DYSF):c.2133C>T (p.His711=)
|
rs1243434554
|
|
NM_001130987.2(DYSF):c.2135T>G (p.Leu712Arg)
|
|
|
NM_001130987.2(DYSF):c.2136G>A (p.Leu712=)
|
|
|
NM_001130987.2(DYSF):c.2140C>T (p.Leu714=)
|
rs2152796039
|
|
NM_001130987.2(DYSF):c.2148G>T (p.Ala716=)
|
|
|
NM_001130987.2(DYSF):c.2151G>A (p.Gln717=)
|
|
|
NM_001130987.2(DYSF):c.2169G>A (p.Val723=)
|
|
|
NM_001130987.2(DYSF):c.2178G>C (p.Leu726=)
|
|
|
NM_001130987.2(DYSF):c.2187G>A (p.Gln729=)
|
rs2152796141
|
|
NM_001130987.2(DYSF):c.2194G>A (p.Asp732Asn)
|
|
|
NM_001130987.2(DYSF):c.2211C>G (p.Gly737=)
|
|
|
NM_001130987.2(DYSF):c.2216+10A>T
|
rs1573963862
|
|
NM_001130987.2(DYSF):c.2216+11C>A
|
|
|
NM_001130987.2(DYSF):c.2216+13T>G
|
|
|
NM_001130987.2(DYSF):c.2216+17G>A
|
|
|
NM_001130987.2(DYSF):c.2216+19C>G
|
|
|
NM_001130987.2(DYSF):c.2216+20C>G
|
|
|
NM_001130987.2(DYSF):c.2216+7G>A
|
|
|
NM_001130987.2(DYSF):c.2216+8G>A
|
rs2152796229
|
|
NM_001130987.2(DYSF):c.2216+9G>A
|
rs1040115070
|
|
NM_001130987.2(DYSF):c.2216+9G>T
|
|
|
NM_001130987.2(DYSF):c.2217-15G>C
|
|
|
NM_001130987.2(DYSF):c.2217-15G>T
|
|
|
NM_001130987.2(DYSF):c.2217-17C>G
|
|
|
NM_001130987.2(DYSF):c.2217-19A>G
|
|
|
NM_001130987.2(DYSF):c.2217-20C>T
|
|
|
NM_001130987.2(DYSF):c.2217-6T>G
|
|
|
NM_001130987.2(DYSF):c.2223T>C (p.Pro741=)
|
rs1574000542
|
|
NM_001130987.2(DYSF):c.2224C>T (p.Leu742=)
|
|
|
NM_001130987.2(DYSF):c.2231A>T (p.Asp744Val)
|
|
|
NM_001130987.2(DYSF):c.2232C>T (p.Asp744=)
|
rs2152803824
|
|
NM_001130987.2(DYSF):c.2241G>A (p.Glu747=)
|
|
|
NM_001130987.2(DYSF):c.2247C>T (p.Pro749=)
|
rs2091788049
|
|
NM_001130987.2(DYSF):c.225G>T (p.Thr75=)
|
rs200957354
|
|
NM_001130987.2(DYSF):c.2265C>T (p.Asp755=)
|
|
|
NM_001130987.2(DYSF):c.2286C>T (p.Arg762=)
|
|
|
NM_001130987.2(DYSF):c.2289C>T (p.Thr763=)
|
|
|
NM_001130987.2(DYSF):c.2292T>C (p.His764=)
|
rs2152803900
|
|
NM_001130987.2(DYSF):c.2310T>C (p.Thr770=)
|
rs2152803913
|
|
NM_001130987.2(DYSF):c.2310T>G (p.Thr770=)
|
|
|
NM_001130987.2(DYSF):c.231G>A (p.Gly77=)
|
rs1553508988
|
|
NM_001130987.2(DYSF):c.2326C>T (p.Leu776=)
|
rs2152803929
|
|
NM_001130987.2(DYSF):c.2331G>A (p.Lys777=)
|
rs2152803935
|
|
NM_001130987.2(DYSF):c.2334C>G (p.Leu778=)
|
|
|
NM_001130987.2(DYSF):c.2358T>C (p.Ala786=)
|
rs1574001503
|
|
NM_001130987.2(DYSF):c.2361G>A (p.Leu787=)
|
|
|
NM_001130987.2(DYSF):c.2367G>A (p.Gln789=)
|
rs2152803972
|
|
NM_001130987.2(DYSF):c.2383C>T (p.Leu795=)
|
|
|
NM_001130987.2(DYSF):c.2388T>C (p.Arg796=)
|
rs2152804009
|
|
NM_001130987.2(DYSF):c.239+14A>T
|
|
|
NM_001130987.2(DYSF):c.239+15G>A
|
|
|
NM_001130987.2(DYSF):c.239+15G>T
|
|
|
NM_001130987.2(DYSF):c.239+16G>A
|
rs370433490
|
|
NM_001130987.2(DYSF):c.239+16G>C
|
rs370433490
|
|
NM_001130987.2(DYSF):c.239+17G>A
|
|
|
NM_001130987.2(DYSF):c.239+17G>T
|
|
|
NM_001130987.2(DYSF):c.239+18G>A
|
rs2152682840
|
|
NM_001130987.2(DYSF):c.239+20G>T
|
|
|
NM_001130987.2(DYSF):c.239+7T>A
|
|
|
NM_001130987.2(DYSF):c.239+7T>G
|
|
|
NM_001130987.2(DYSF):c.2397C>G (p.Ala799=)
|
|
|
NM_001130987.2(DYSF):c.240-10C>T
|
|
|
NM_001130987.2(DYSF):c.240-14C>T
|
|
|
NM_001130987.2(DYSF):c.240-5C>T
|
rs1559021086
|
|
NM_001130987.2(DYSF):c.240-6T>A
|
rs896011451
|
|
NM_001130987.2(DYSF):c.2409+10C>T
|
rs2152804044
|
|
NM_001130987.2(DYSF):c.2409+13G>C
|
rs2152804057
|
|
NM_001130987.2(DYSF):c.2410-10C>G
|
|
|
NM_001130987.2(DYSF):c.2410-11C>T
|
|
|
NM_001130987.2(DYSF):c.2410-15C>A
|
|
|
NM_001130987.2(DYSF):c.2410-17C>T
|
|
|
NM_001130987.2(DYSF):c.2410-20G>A
|
|
|
NM_001130987.2(DYSF):c.2410-6G>A
|
rs113640471
|
|
NM_001130987.2(DYSF):c.2410-6G>T
|
rs113640471
|
|
NM_001130987.2(DYSF):c.2418C>T (p.Asn806=)
|
|
|
NM_001130987.2(DYSF):c.2424G>A (p.Leu808=)
|
|
|
NM_001130987.2(DYSF):c.2436C>T (p.Val812=)
|
|
|
NM_001130987.2(DYSF):c.2448G>C (p.Leu816=)
|
rs1416175829
|
|
NM_001130987.2(DYSF):c.2454A>T (p.Gly818=)
|
|
|
NM_001130987.2(DYSF):c.2481G>A (p.Val827=)
|
|
|
NM_001130987.2(DYSF):c.2496C>T (p.Val832=)
|
rs932447764
|
|
NM_001130987.2(DYSF):c.2499C>T (p.Leu833=)
|
|
|
NM_001130987.2(DYSF):c.2509C>A (p.Arg837=)
|
rs371841411
|
|
NM_001130987.2(DYSF):c.2511G>A (p.Arg837=)
|
|
|
NM_001130987.2(DYSF):c.2517C>T (p.Ala839=)
|
|
|
NM_001130987.2(DYSF):c.2520C>T (p.Asn840=)
|
|
|
NM_001130987.2(DYSF):c.2523C>T (p.Tyr841=)
|
rs2091950553
|
|
NM_001130987.2(DYSF):c.2541G>A (p.Gly847=)
|
|
|
NM_001130987.2(DYSF):c.2545C>T (p.Leu849=)
|
rs2152806488
|
|
NM_001130987.2(DYSF):c.2547A>G (p.Leu849=)
|
|
|
NM_001130987.2(DYSF):c.2560C>G (p.Leu854Val)
|
|
|
NM_001130987.2(DYSF):c.2562G>A (p.Leu854=)
|
rs763143515
|
|
NM_001130987.2(DYSF):c.2562G>C (p.Leu854=)
|
|
|
NM_001130987.2(DYSF):c.2565+18C>T
|
|
|
NM_001130987.2(DYSF):c.2565+19dup
|
rs1160697607
|
|
NM_001130987.2(DYSF):c.2565+20A>G
|
|
|
NM_001130987.2(DYSF):c.2565+20A>T
|
|
|
NM_001130987.2(DYSF):c.2566-14T>C
|
|
|
NM_001130987.2(DYSF):c.2566-14_2566-12del
|
|
|
NM_001130987.2(DYSF):c.2566-17C>T
|
|
|
NM_001130987.2(DYSF):c.2583G>C (p.Val861=)
|
rs554512393
|
|
NM_001130987.2(DYSF):c.2613G>A (p.Arg871=)
|
|
|
NM_001130987.2(DYSF):c.2616C>T (p.Val872=)
|
|
|
NM_001130987.2(DYSF):c.2631G>A (p.Gly877=)
|
rs1465061221
|
|
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=)
|
rs1465061221
|
|
NM_001130987.2(DYSF):c.2634C>T (p.Leu878=)
|
|
|
NM_001130987.2(DYSF):c.2649G>A (p.Lys883=)
|
|
|
NM_001130987.2(DYSF):c.264A>G (p.Pro88=)
|
rs2152715680
|
|
NM_001130987.2(DYSF):c.2652G>A (p.Glu884=)
|
rs1221035313
|
|
NM_001130987.2(DYSF):c.2664T>C (p.Phe888=)
|
rs1441467585
|
|
NM_001130987.2(DYSF):c.2667T>C (p.Ala889=)
|
|
|
NM_001130987.2(DYSF):c.2673G>A (p.Gly891=)
|
rs530181166
|
|
NM_001130987.2(DYSF):c.2682T>G (p.Ser894=)
|
|
|
NM_001130987.2(DYSF):c.2697+14_2697+16del
|
|
|
NM_001130987.2(DYSF):c.2697+15_2697+17dup
|
|
|
NM_001130987.2(DYSF):c.2697+16C>G
|
|
|
NM_001130987.2(DYSF):c.2697+16C>T
|
|
|
NM_001130987.2(DYSF):c.2697+17C>T
|
|
|
NM_001130987.2(DYSF):c.2697+19C>T
|
|
|
NM_001130987.2(DYSF):c.2697+20C>A
|
|
|
NM_001130987.2(DYSF):c.2697+9C>T
|
rs2152811121
|
|
NM_001130987.2(DYSF):c.2698-15T>G
|
|
|
NM_001130987.2(DYSF):c.2698-19A>C
|
|
|
NM_001130987.2(DYSF):c.2698-6C>T
|
|
|
NM_001130987.2(DYSF):c.2698-7C>A
|
|
|
NM_001130987.2(DYSF):c.2715G>A (p.Lys905=)
|
rs2152811276
|
|
NM_001130987.2(DYSF):c.2718G>A (p.Leu906=)
|
|
|
NM_001130987.2(DYSF):c.2722C>T (p.Leu908Phe)
|
|
|
NM_001130987.2(DYSF):c.2729G>A (p.Gly910Glu)
|
|
|
NM_001130987.2(DYSF):c.273G>A (p.Glu91=)
|
rs1191751443
|
|
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=)
|
rs775337850
|
|
NM_001130987.2(DYSF):c.2745G>C (p.Thr915=)
|
rs775337850
|
|
NM_001130987.2(DYSF):c.2745G>T (p.Thr915=)
|
|
|
NM_001130987.2(DYSF):c.2760C>A (p.Pro920=)
|
|
|
NM_001130987.2(DYSF):c.276C>G (p.Val92=)
|
rs1423519649
|
|
NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met)
|
|
|
NM_001130987.2(DYSF):c.2796C>A (p.Pro932=)
|
|
|
NM_001130987.2(DYSF):c.2802C>T (p.Asp934=)
|
|
|
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro)
|
rs759171890
|
|
NM_001130987.2(DYSF):c.2811C>T (p.Arg937=)
|
rs1378187679
|
|
NM_001130987.2(DYSF):c.2814C>G (p.Pro938=)
|
rs2152811408
|
|
NM_001130987.2(DYSF):c.2814C>T (p.Pro938=)
|
rs2152811408
|
|
NM_001130987.2(DYSF):c.2817G>T (p.Ser939=)
|
rs148902254
|
|
NM_001130987.2(DYSF):c.2823C>T (p.Gly941=)
|
|
|
NM_001130987.2(DYSF):c.2859G>A (p.Glu953=)
|
rs2152811483
|
|
NM_001130987.2(DYSF):c.2864+11G>T
|
|
|
NM_001130987.2(DYSF):c.2864+12G>A
|
|
|
NM_001130987.2(DYSF):c.2864+14A>C
|
|
|
NM_001130987.2(DYSF):c.2864+14A>G
|
|
|
NM_001130987.2(DYSF):c.2864+19G>A
|
|
|
NM_001130987.2(DYSF):c.2864+20G>A
|
|
|
NM_001130987.2(DYSF):c.2864+7C>A
|
rs770354145
|
|
NM_001130987.2(DYSF):c.2864+7_2864+9del
|
rs2152811500
|
|
NM_001130987.2(DYSF):c.2864+8G>T
|
rs371686795
|
|
NM_001130987.2(DYSF):c.2864+9T>C
|
|
|
NM_001130987.2(DYSF):c.2865-11dup
|
|
|
NM_001130987.2(DYSF):c.2865-16C>G
|
rs1394253038
|
|
NM_001130987.2(DYSF):c.2865-4A>G
|
|
|
NM_001130987.2(DYSF):c.2865-6C>T
|
|
|
NM_001130987.2(DYSF):c.2865-9C>T
|
|
|
NM_001130987.2(DYSF):c.2866C>T (p.Leu956=)
|
|
|
NM_001130987.2(DYSF):c.2868G>C (p.Leu956=)
|
|
|
NM_001130987.2(DYSF):c.2871C>A (p.Leu957=)
|
rs373185538
|
|
NM_001130987.2(DYSF):c.2871C>T (p.Leu957=)
|
rs373185538
|
|
NM_001130987.2(DYSF):c.2892C>T (p.His964=)
|
rs886044637
|
|
NM_001130987.2(DYSF):c.2895G>C (p.Leu965=)
|
|
|
NM_001130987.2(DYSF):c.2898C>T (p.Ser966=)
|
|
|
NM_001130987.2(DYSF):c.2907A>G (p.Glu969=)
|
|
|
NM_001130987.2(DYSF):c.2928C>T (p.Thr976=)
|
rs148531939
|
|
NM_001130987.2(DYSF):c.2932C>T (p.Leu978Phe)
|
|
|
NM_001130987.2(DYSF):c.2964C>T (p.Asp988=)
|
|
|
NM_001130987.2(DYSF):c.2967C>T (p.Asn989=)
|
rs932028347
|
|
NM_001130987.2(DYSF):c.2979+12A>T
|
|
|
NM_001130987.2(DYSF):c.2979+13C>G
|
|
|
NM_001130987.2(DYSF):c.2979+16del
|
|
|
NM_001130987.2(DYSF):c.2979+20G>T
|
|
|
NM_001130987.2(DYSF):c.2979+8A>C
|
|
|
NM_001130987.2(DYSF):c.297C>A (p.Ser99=)
|
|
|
NM_001130987.2(DYSF):c.2980-15C>G
|
|
|
NM_001130987.2(DYSF):c.2980-19T>C
|
|
|
NM_001130987.2(DYSF):c.2980-4T>A
|
rs2152814485
|
|
NM_001130987.2(DYSF):c.2980-5C>G
|
|
|
NM_001130987.2(DYSF):c.2980-7T>G
|
|
|
NM_001130987.2(DYSF):c.2980-8G>A
|
|
|
NM_001130987.2(DYSF):c.2985G>A (p.Gly995=)
|
rs772573481
|
|
NM_001130987.2(DYSF):c.2991G>A (p.Lys997=)
|
|
|
NM_001130987.2(DYSF):c.3009C>T (p.Asp1003=)
|
|
|
NM_001130987.2(DYSF):c.3021A>C (p.Pro1007=)
|
|
|
NM_001130987.2(DYSF):c.3021A>G (p.Pro1007=)
|
rs767310734
|
|
NM_001130987.2(DYSF):c.3033G>A (p.Lys1011=)
|
|
|
NM_001130987.2(DYSF):c.3045G>A (p.Glu1015=)
|
|
|
NM_001130987.2(DYSF):c.3067C>A (p.Arg1023=)
|
rs778316824
|
|
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=)
|
rs2092344930
|
|
NM_001130987.2(DYSF):c.3078T>C (p.Asp1026=)
|
|
|
NM_001130987.2(DYSF):c.3085+10A>G
|
|
|
NM_001130987.2(DYSF):c.3085+11T>A
|
|
|
NM_001130987.2(DYSF):c.3085+18C>A
|
|
|
NM_001130987.2(DYSF):c.3085+8G>A
|
rs2092345901
|
|
NM_001130987.2(DYSF):c.3086-10C>T
|
|
|
NM_001130987.2(DYSF):c.3086-11C>G
|
|
|
NM_001130987.2(DYSF):c.3086-13C>G
|
|
|
NM_001130987.2(DYSF):c.3086-13C>T
|
|
|
NM_001130987.2(DYSF):c.3086-16G>T
|
|
|
NM_001130987.2(DYSF):c.3086-17G>T
|
rs3764971
|
|
NM_001130987.2(DYSF):c.3086-18C>A
|
|
|
NM_001130987.2(DYSF):c.3086-18C>T
|
rs181786284
|
|
NM_001130987.2(DYSF):c.3086-4C>T
|
|
|
NM_001130987.2(DYSF):c.3086-7C>T
|
|
|
NM_001130987.2(DYSF):c.3086-9C>A
|
rs185350547
|
|
NM_001130987.2(DYSF):c.3087C>T (p.Gly1029=)
|
|
|
NM_001130987.2(DYSF):c.3093G>A (p.Glu1031=)
|
rs1167647963
|
|
NM_001130987.2(DYSF):c.3096T>C (p.Tyr1032=)
|
rs2152815115
|
|
NM_001130987.2(DYSF):c.309T>C (p.Asn103=)
|
rs1231985809
|
|
NM_001130987.2(DYSF):c.3108C>A (p.Ile1036=)
|
rs368033221
|
|
NM_001130987.2(DYSF):c.3108C>T (p.Ile1036=)
|
|
|
NM_001130987.2(DYSF):c.3120G>A (p.Arg1040=)
|
|
|
NM_001130987.2(DYSF):c.3126G>C (p.Pro1042=)
|
rs377235191
|
|
NM_001130987.2(DYSF):c.312C>T (p.Ala104=)
|
|
|
NM_001130987.2(DYSF):c.3141T>C (p.Pro1047=)
|
rs780246050
|
|
NM_001130987.2(DYSF):c.3144T>C (p.Ala1048=)
|
rs762991691
|
|
NM_001130987.2(DYSF):c.315C>A (p.Pro105=)
|
|
|
NM_001130987.2(DYSF):c.315C>G (p.Pro105=)
|
|
|
NM_001130987.2(DYSF):c.3162A>C (p.Thr1054=)
|
|
|
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.3168A>G (p.Arg1056=)
|
rs763654971
|
|
NM_001130987.2(DYSF):c.3186C>T (p.Arg1062=)
|
rs1471242249
|
|
NM_001130987.2(DYSF):c.3187C>T (p.Leu1063=)
|
rs2152815288
|
|
NM_001130987.2(DYSF):c.3189G>A (p.Leu1063=)
|
rs2152815295
|
|
NM_001130987.2(DYSF):c.3189G>T (p.Leu1063=)
|
rs2152815295
|
|
NM_001130987.2(DYSF):c.3201T>C (p.Asp1067=)
|
|
|
NM_001130987.2(DYSF):c.3219A>C (p.Ala1073=)
|
rs1353352875
|
|
NM_001130987.2(DYSF):c.3219A>G (p.Ala1073=)
|
rs1353352875
|
|
NM_001130987.2(DYSF):c.3220C>T (p.Leu1074=)
|
|
|
NM_001130987.2(DYSF):c.3228+10C>A
|
|
|
NM_001130987.2(DYSF):c.3228+10C>T
|
|
|
NM_001130987.2(DYSF):c.3228+17T>C
|
|
|
NM_001130987.2(DYSF):c.3228+7_3228+22dup
|
|
|
NM_001130987.2(DYSF):c.3228+8A>G
|
rs749135257
|
|
NM_001130987.2(DYSF):c.3228+8A>T
|
rs749135257
|
|
NM_001130987.2(DYSF):c.3228+8_3228+33del
|
rs1553556251
|
|
NM_001130987.2(DYSF):c.3229-14C>T
|
rs1020437649
|
|
NM_001130987.2(DYSF):c.3229-16C>T
|
|
|
NM_001130987.2(DYSF):c.3229-5T>C
|
rs794727532
|
|
NM_001130987.2(DYSF):c.3229-7T>C
|
rs1462610030
|
|
NM_001130987.2(DYSF):c.3243G>A (p.Glu1081=)
|
|
|
NM_001130987.2(DYSF):c.3245C>T (p.Ala1082Val)
|
|
|
NM_001130987.2(DYSF):c.3252C>T (p.Gly1084=)
|
|
|
NM_001130987.2(DYSF):c.3255G>A (p.Glu1085=)
|
|
|
NM_001130987.2(DYSF):c.3258C>T (p.Gly1086=)
|
|
|
NM_001130987.2(DYSF):c.3273T>G (p.Ser1091=)
|
|
|
NM_001130987.2(DYSF):c.3276T>C (p.Leu1092=)
|
|
|
NM_001130987.2(DYSF):c.3282C>T (p.Gly1094=)
|
|
|
NM_001130987.2(DYSF):c.3291C>T (p.Phe1097=)
|
|
|
NM_001130987.2(DYSF):c.3297C>G (p.Leu1099=)
|
|
|
NM_001130987.2(DYSF):c.330G>A (p.Lys110=)
|
rs1573565747
|
|
NM_001130987.2(DYSF):c.3312A>G (p.Thr1104=)
|
|
|
NM_001130987.2(DYSF):c.3315T>C (p.Asp1105=)
|
|
|
NM_001130987.2(DYSF):c.3324C>T (p.Arg1108=)
|
rs2152823096
|
|
NM_001130987.2(DYSF):c.3330C>A (p.Arg1110=)
|
rs2152823127
|
|
NM_001130987.2(DYSF):c.3342T>A (p.Arg1114=)
|
|
|
NM_001130987.2(DYSF):c.3354A>G (p.Pro1118=)
|
rs1235233076
|
|
NM_001130987.2(DYSF):c.3363G>A (p.Lys1121=)
|
|
|
NM_001130987.2(DYSF):c.3366G>C (p.Thr1122=)
|
rs149986783
|
|
NM_001130987.2(DYSF):c.336G>A (p.Gln112=)
|
rs2152715817
|
|
NM_001130987.2(DYSF):c.3375A>G (p.Ala1125=)
|
rs1574098655
|
|
NM_001130987.2(DYSF):c.3387C>T (p.Ala1129=)
|
|
|
NM_001130987.2(DYSF):c.3396G>A (p.Gly1132=)
|
|
|
NM_001130987.2(DYSF):c.3396G>T (p.Gly1132=)
|
|
|
NM_001130987.2(DYSF):c.3399C>T (p.Ala1133=)
|
|
|
NM_001130987.2(DYSF):c.339C>T (p.Pro113=)
|
rs1432668893
|
|
NM_001130987.2(DYSF):c.3402+10G>A
|
|
|
NM_001130987.2(DYSF):c.3402+13G>A
|
|
|
NM_001130987.2(DYSF):c.3402+14C>T
|
|
|
NM_001130987.2(DYSF):c.3402+9G>A
|
rs533984377
|
|
NM_001130987.2(DYSF):c.3403-13T>C
|
|
|
NM_001130987.2(DYSF):c.3403-14C>T
|
|
|
NM_001130987.2(DYSF):c.3403-16A>G
|
|
|
NM_001130987.2(DYSF):c.3403-17C>G
|
|
|
NM_001130987.2(DYSF):c.3403-17C>T
|
rs2152842383
|
|
NM_001130987.2(DYSF):c.3403-20A>G
|
|
|
NM_001130987.2(DYSF):c.3423G>A (p.Lys1141=)
|
|
|
NM_001130987.2(DYSF):c.3435C>T (p.Ser1145=)
|
|
|
NM_001130987.2(DYSF):c.3436A>T (p.Met1146Leu)
|
|
|
NM_001130987.2(DYSF):c.3440C>T (p.Ser1147Phe)
|
|
|
NM_001130987.2(DYSF):c.3441C>G (p.Ser1147=)
|
|
|
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr)
|
rs959125009
|
|
NM_001130987.2(DYSF):c.345+11A>G
|
|
|
NM_001130987.2(DYSF):c.345+11A>T
|
|
|
NM_001130987.2(DYSF):c.345+12T>C
|
|
|
NM_001130987.2(DYSF):c.345+13C>T
|
|
|
NM_001130987.2(DYSF):c.345+15G>A
|
|
|
NM_001130987.2(DYSF):c.345+17C>G
|
|
|
NM_001130987.2(DYSF):c.345+7G>T
|
|
|
NM_001130987.2(DYSF):c.3450C>T (p.Thr1150=)
|
rs2152842489
|
|
NM_001130987.2(DYSF):c.3453G>A (p.Leu1151=)
|
|
|
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=)
|
rs778088008
|
|
NM_001130987.2(DYSF):c.346-10T>C
|
|
|
NM_001130987.2(DYSF):c.346-14C>T
|
|
|
NM_001130987.2(DYSF):c.346-19C>A
|
|
|
NM_001130987.2(DYSF):c.346-7C>G
|
|
|
NM_001130987.2(DYSF):c.346-8T>G
|
|
|
NM_001130987.2(DYSF):c.3469A>C (p.Arg1157=)
|
rs2152842518
|
|
NM_001130987.2(DYSF):c.3474C>T (p.Pro1158=)
|
|
|
NM_001130987.2(DYSF):c.3477G>T (p.Thr1159=)
|
|
|
NM_001130987.2(DYSF):c.3480T>C (p.Ile1160=)
|
rs768564735
|
|
NM_001130987.2(DYSF):c.3489A>T (p.Ile1163=)
|
|
|
NM_001130987.2(DYSF):c.3496+12T>C
|
|
|
NM_001130987.2(DYSF):c.3496+18G>C
|
|
|
NM_001130987.2(DYSF):c.3496+20C>T
|
|
|
NM_001130987.2(DYSF):c.3496+8A>C
|
|
|
NM_001130987.2(DYSF):c.3497-10C>A
|
|
|
NM_001130987.2(DYSF):c.3497-10C>G
|
rs1399992374
|
|
NM_001130987.2(DYSF):c.3497-10C>T
|
rs1399992374
|
|
NM_001130987.2(DYSF):c.3497-19G>A
|
|
|
NM_001130987.2(DYSF):c.3497-5T>C
|
|
|
NM_001130987.2(DYSF):c.3497-5del
|
rs2152843358
|
|
NM_001130987.2(DYSF):c.3498T>C (p.Tyr1166=)
|
rs758944159
|
|
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=)
|
rs138317526
|
|
NM_001130987.2(DYSF):c.3501G>C (p.Gly1167=)
|
rs138317526
|
|
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=)
|
rs138317526
|
|
NM_001130987.2(DYSF):c.3510C>T (p.Tyr1170=)
|
|
|
NM_001130987.2(DYSF):c.3514C>T (p.Leu1172=)
|
|
|
NM_001130987.2(DYSF):c.3519C>T (p.Arg1173=)
|
|
|
NM_001130987.2(DYSF):c.3522C>T (p.Cys1174=)
|
|
|
NM_001130987.2(DYSF):c.3534G>A (p.Gln1178=)
|
|
|
NM_001130987.2(DYSF):c.3537C>T (p.Ala1179=)
|
|
|
NM_001130987.2(DYSF):c.3538C>A (p.Arg1180=)
|
|
|
NM_001130987.2(DYSF):c.3540G>A (p.Arg1180=)
|
|
|
NM_001130987.2(DYSF):c.3546G>A (p.Leu1182=)
|
|
|
NM_001130987.2(DYSF):c.354G>A (p.Leu118=)
|
|
|
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)
|
rs201319864
|
|
NM_001130987.2(DYSF):c.3561G>A (p.Lys1187=)
|
|
|
NM_001130987.2(DYSF):c.3574+14A>G
|
|
|
NM_001130987.2(DYSF):c.3574+15G>A
|
|
|
NM_001130987.2(DYSF):c.3574+15G>C
|
|
|
NM_001130987.2(DYSF):c.3574+16G>C
|
|
|
NM_001130987.2(DYSF):c.3575-10G>A
|
rs1293988031
|
|
NM_001130987.2(DYSF):c.3575-15C>T
|
|
|
NM_001130987.2(DYSF):c.3575-16_3575-7del
|
rs2093461917
|
|
NM_001130987.2(DYSF):c.3575-17C>A
|
|
|
NM_001130987.2(DYSF):c.3575-17C>G
|
|
|
NM_001130987.2(DYSF):c.3575-18C>G
|
|
|
NM_001130987.2(DYSF):c.3575-18C>T
|
rs376861951
|
|
NM_001130987.2(DYSF):c.3575-5T>C
|
rs2093462575
|
|
NM_001130987.2(DYSF):c.3575-6A>G
|
|
|
NM_001130987.2(DYSF):c.3575-6A>T
|
|
|
NM_001130987.2(DYSF):c.3575-7C>T
|
|
|
NM_001130987.2(DYSF):c.3575-9C>T
|
|
|
NM_001130987.2(DYSF):c.357C>A (p.Val119=)
|
|
|
NM_001130987.2(DYSF):c.357C>G (p.Val119=)
|
|
|
NM_001130987.2(DYSF):c.3585C>T (p.Ala1195=)
|
|
|
NM_001130987.2(DYSF):c.3588C>A (p.Ile1196=)
|
|
|
NM_001130987.2(DYSF):c.3591C>T (p.Val1197=)
|
|
|
NM_001130987.2(DYSF):c.3594C>A (p.Ser1198=)
|
|
|
NM_001130987.2(DYSF):c.3594C>T (p.Ser1198=)
|
rs2093463237
|
|
NM_001130987.2(DYSF):c.3603C>T (p.His1201=)
|
|
|
NM_001130987.2(DYSF):c.360G>A (p.Leu120=)
|
|
|
NM_001130987.2(DYSF):c.3618G>A (p.Thr1206=)
|
rs913686558
|
|
NM_001130987.2(DYSF):c.3618G>C (p.Thr1206=)
|
rs913686558
|
|
NM_001130987.2(DYSF):c.3621G>A (p.Val1207=)
|
|
|
NM_001130987.2(DYSF):c.3624G>A (p.Val1208=)
|
|
|
NM_001130987.2(DYSF):c.3627G>A (p.Val1209=)
|
|
|
NM_001130987.2(DYSF):c.3642C>T (p.Asn1214=)
|
|
|
NM_001130987.2(DYSF):c.3660G>T (p.Thr1220=)
|
rs139897804
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.369C>G (p.Ser123=)
|
|
|
NM_001130987.2(DYSF):c.3702A>C (p.Thr1234=)
|
rs2093465610
|
|
NM_001130987.2(DYSF):c.3708T>C (p.Ala1236=)
|
|
|
NM_001130987.2(DYSF):c.3717G>T (p.Pro1239=)
|
rs150444588
|
|
NM_001130987.2(DYSF):c.3720C>T (p.Pro1240=)
|
|
|
NM_001130987.2(DYSF):c.3726T>C (p.Ile1242=)
|
rs767498919
|
|
NM_001130987.2(DYSF):c.3732G>A (p.Val1244=)
|
rs1301694427
|
|
NM_001130987.2(DYSF):c.3736C>T (p.Leu1246=)
|
|
|
NM_001130987.2(DYSF):c.3738G>A (p.Leu1246=)
|
rs780022977
|
|
NM_001130987.2(DYSF):c.3744C>T (p.Asp1248=)
|
|
|
NM_001130987.2(DYSF):c.3750C>T (p.Asp1250=)
|
|
|
NM_001130987.2(DYSF):c.3756+17C>T
|
|
|
NM_001130987.2(DYSF):c.3756+18C>T
|
|
|
NM_001130987.2(DYSF):c.3757-18T>C
|
|
|
NM_001130987.2(DYSF):c.3757-19C>G
|
|
|
NM_001130987.2(DYSF):c.3757-19C>T
|
|
|
NM_001130987.2(DYSF):c.3757-4C>A
|
rs2152858725
|
|
NM_001130987.2(DYSF):c.3757-4C>T
|
rs2152858725
|
|
NM_001130987.2(DYSF):c.3759T>G (p.Gly1253=)
|
|
|
NM_001130987.2(DYSF):c.375A>T (p.Thr125=)
|
|
|
NM_001130987.2(DYSF):c.3768G>A (p.Glu1256=)
|
rs1574276347
|
|
NM_001130987.2(DYSF):c.378G>T (p.Pro126=)
|
rs377056951
|
|
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=)
|
rs762041312
|
|
NM_001130987.2(DYSF):c.3798T>C (p.Ser1266=)
|
rs2152858798
|
|
NM_001130987.2(DYSF):c.3801G>A (p.Leu1267=)
|
rs2152858802
|
|
NM_001130987.2(DYSF):c.3806G>A (p.Arg1269Gln)
|
|
|
NM_001130987.2(DYSF):c.3807G>A (p.Arg1269=)
|
|
|
NM_001130987.2(DYSF):c.3809T>C (p.Met1270Thr)
|
|
|
NM_001130987.2(DYSF):c.3816G>T (p.Arg1272=)
|
|
|
NM_001130987.2(DYSF):c.3819G>A (p.Leu1273=)
|
|
|
NM_001130987.2(DYSF):c.381G>A (p.Leu127=)
|
|
|
NM_001130987.2(DYSF):c.3831A>G (p.Pro1277=)
|
|
|
NM_001130987.2(DYSF):c.3837G>A (p.Thr1279=)
|
rs780431455
|
|
NM_001130987.2(DYSF):c.3837G>T (p.Thr1279=)
|
rs780431455
|
|
NM_001130987.2(DYSF):c.3838A>C (p.Arg1280=)
|
rs749714780
|
|
NM_001130987.2(DYSF):c.3840G>A (p.Arg1280=)
|
rs2152858882
|
|
NM_001130987.2(DYSF):c.3849G>A (p.Gln1283=)
|
|
|
NM_001130987.2(DYSF):c.3852G>T (p.Pro1284=)
|
rs139983909
|
|
NM_001130987.2(DYSF):c.3854C>T (p.Ser1285Leu)
|
|
|
NM_001130987.2(DYSF):c.3855G>A (p.Ser1285=)
|
rs765136335
|
|
NM_001130987.2(DYSF):c.3855G>T (p.Ser1285=)
|
rs765136335
|
|
NM_001130987.2(DYSF):c.3861G>A (p.Glu1287=)
|
rs2152858929
|
|
NM_001130987.2(DYSF):c.3876T>C (p.Phe1292=)
|
rs767082608
|
|
NM_001130987.2(DYSF):c.3879G>A (p.Glu1293=)
|
rs2152858959
|
|
NM_001130987.2(DYSF):c.3885C>T (p.Ile1295=)
|
|
|
NM_001130987.2(DYSF):c.388G>A (p.Ala130Thr)
|
rs1449509021
|
|
NM_001130987.2(DYSF):c.3897+10del
|
rs2152859007
|
|
NM_001130987.2(DYSF):c.3897+14A>G
|
|
|
NM_001130987.2(DYSF):c.3897+15T>C
|
|
|
NM_001130987.2(DYSF):c.3898-11C>T
|
|
|
NM_001130987.2(DYSF):c.3898-15T>C
|
|
|
NM_001130987.2(DYSF):c.3898-16C>A
|
|
|
NM_001130987.2(DYSF):c.3898-19T>A
|
rs2152859948
|
|
NM_001130987.2(DYSF):c.3898-19T>C
|
|
|
NM_001130987.2(DYSF):c.3898-4C>T
|
rs555206040
|
|
NM_001130987.2(DYSF):c.3898-7A>C
|
|
|
NM_001130987.2(DYSF):c.3898-7A>G
|
|
|
NM_001130987.2(DYSF):c.3898-8C>T
|
|
|
NM_001130987.2(DYSF):c.3906C>T (p.Ile1302=)
|
rs754355332
|
|
NM_001130987.2(DYSF):c.3912T>C (p.His1304=)
|
rs2093550929
|
|
NM_001130987.2(DYSF):c.3927+10G>C
|
|
|
NM_001130987.2(DYSF):c.3928-10T>C
|
rs1558589946
|
|
NM_001130987.2(DYSF):c.3928-19T>A
|
|
|
NM_001130987.2(DYSF):c.3948C>T (p.Ile1316=)
|
rs2093577208
|
|
NM_001130987.2(DYSF):c.3957+10G>A
|
|
|
NM_001130987.2(DYSF):c.3957+11C>T
|
|
|
NM_001130987.2(DYSF):c.3957+12G>A
|
|
|
NM_001130987.2(DYSF):c.3957+14G>A
|
|
|
NM_001130987.2(DYSF):c.3957+15G>A
|
|
|
NM_001130987.2(DYSF):c.3957+20dup
|
|
|
NM_001130987.2(DYSF):c.3957+7T>C
|
rs2152861837
|
|
NM_001130987.2(DYSF):c.3957+8G>T
|
|
|
NM_001130987.2(DYSF):c.3957+9G>A
|
rs794727590
|
|
NM_001130987.2(DYSF):c.3958-13C>A
|
|
|
NM_001130987.2(DYSF):c.3958-13C>G
|
rs1417797236
|
|
NM_001130987.2(DYSF):c.3958-5T>C
|
rs758255732
|
|
NM_001130987.2(DYSF):c.3958-6C>A
|
rs568840196
|
|
NM_001130987.2(DYSF):c.3958-6C>T
|
|
|
NM_001130987.2(DYSF):c.3958-8C>T
|
|
|
NM_001130987.2(DYSF):c.3958-8del
|
rs2152874678
|
|
NM_001130987.2(DYSF):c.3972C>T (p.Asp1324=)
|
|
|
NM_001130987.2(DYSF):c.3975G>A (p.Leu1325=)
|
|
|
NM_001130987.2(DYSF):c.3975G>C (p.Leu1325=)
|
rs2152874732
|
|
NM_001130987.2(DYSF):c.3978C>T (p.Pro1326=)
|
|
|
NM_001130987.2(DYSF):c.3994A>C (p.Arg1332=)
|
rs1293876957
|
|
NM_001130987.2(DYSF):c.3999G>A (p.Glu1333=)
|
|
|
NM_001130987.2(DYSF):c.399G>A (p.Leu133=)
|
rs1258988203
|
|
NM_001130987.2(DYSF):c.4008C>A (p.Ile1336=)
|
|
|
NM_001130987.2(DYSF):c.4023G>A (p.Gln1341=)
|
|
|
NM_001130987.2(DYSF):c.4032G>A (p.Lys1344=)
|
|
|
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)
|
rs61742872
|
|
NM_001130987.2(DYSF):c.4053C>T (p.Ala1351=)
|
rs964824166
|
|
NM_001130987.2(DYSF):c.4056C>T (p.Ile1352=)
|
|
|
NM_001130987.2(DYSF):c.4059+12G>A
|
|
|
NM_001130987.2(DYSF):c.4059+16C>G
|
|
|
NM_001130987.2(DYSF):c.4059+17T>C
|
|
|
NM_001130987.2(DYSF):c.4059+7C>A
|
rs562567295
|
|
NM_001130987.2(DYSF):c.4059+7_4059+8del
|
rs2152874917
|
|
NM_001130987.2(DYSF):c.4059+9del
|
rs2152874922
|
|
NM_001130987.2(DYSF):c.4060-10G>T
|
rs1464571468
|
|
NM_001130987.2(DYSF):c.4060-12C>T
|
|
|
NM_001130987.2(DYSF):c.4060-14T>C
|
rs1240369237
|
|
NM_001130987.2(DYSF):c.4060-16C>T
|
|
|
NM_001130987.2(DYSF):c.4060-17T>G
|
|
|
NM_001130987.2(DYSF):c.4060-18C>T
|
|
|
NM_001130987.2(DYSF):c.4060-19C>T
|
rs2152875131
|
|
NM_001130987.2(DYSF):c.4063C>T (p.Leu1355=)
|
rs2152875185
|
|
NM_001130987.2(DYSF):c.4077G>A (p.Leu1359=)
|
rs1403408041
|
|
NM_001130987.2(DYSF):c.4078C>A (p.Arg1360=)
|
rs199870606
|
|
NM_001130987.2(DYSF):c.4089G>A (p.Lys1363=)
|
|
|
NM_001130987.2(DYSF):c.408C>G (p.Pro136=)
|
|
|
NM_001130987.2(DYSF):c.408C>T (p.Pro136=)
|
rs1182440042
|
|
NM_001130987.2(DYSF):c.4113C>A (p.Ser1371=)
|
rs2152875258
|
|
NM_001130987.2(DYSF):c.4119C>A (p.Pro1373=)
|
rs775855517
|
|
NM_001130987.2(DYSF):c.411T>A (p.Pro137=)
|
|
|
NM_001130987.2(DYSF):c.4129G>A (p.Val1377Ile)
|
|
|
NM_001130987.2(DYSF):c.4149G>T (p.Thr1383=)
|
|
|
NM_001130987.2(DYSF):c.4152G>A (p.Val1384=)
|
|
|
NM_001130987.2(DYSF):c.4152G>C (p.Val1384=)
|
rs757771727
|
|
NM_001130987.2(DYSF):c.4164C>G (p.Val1388=)
|
rs2152875382
|
|
NM_001130987.2(DYSF):c.4167C>T (p.Ile1389=)
|
rs2152875387
|
|
NM_001130987.2(DYSF):c.4170G>A (p.Arg1390=)
|
rs746181078
|
|
NM_001130987.2(DYSF):c.4176C>T (p.Leu1392=)
|
rs2152875405
|
|
NM_001130987.2(DYSF):c.417T>G (p.Pro139=)
|
|
|
NM_001130987.2(DYSF):c.4185C>T (p.Asn1395=)
|
|
|
NM_001130987.2(DYSF):c.4191C>T (p.Asn1397=)
|
|
|
NM_001130987.2(DYSF):c.4197C>T (p.Asp1399=)
|
|
|
NM_001130987.2(DYSF):c.4200C>T (p.Ile1400=)
|
|
|
NM_001130987.2(DYSF):c.4203C>T (p.Cys1401=)
|
|
|
NM_001130987.2(DYSF):c.4206C>T (p.Thr1402=)
|
|
|
NM_001130987.2(DYSF):c.4221+18A>G
|
|
|
NM_001130987.2(DYSF):c.4221+8C>T
|
rs2152875508
|
|
NM_001130987.2(DYSF):c.4221+9C>T
|
|
|
NM_001130987.2(DYSF):c.4222-11C>G
|
|
|
NM_001130987.2(DYSF):c.4222-11C>T
|
|
|
NM_001130987.2(DYSF):c.4222-6A>T
|
rs745775405
|
|
NM_001130987.2(DYSF):c.4239G>A (p.Glu1413=)
|
|
|
NM_001130987.2(DYSF):c.423G>A (p.Glu141=)
|
|
|
NM_001130987.2(DYSF):c.4242C>G (p.Leu1414=)
|
rs952978128
|
|
NM_001130987.2(DYSF):c.4245C>T (p.Tyr1415=)
|
rs2152876950
|
|
NM_001130987.2(DYSF):c.4248C>T (p.Cys1416=)
|
rs971134497
|
|
NM_001130987.2(DYSF):c.4252C>T (p.Pro1418Ser)
|
rs151268930
|
|
NM_001130987.2(DYSF):c.4254C>A (p.Pro1418=)
|
rs142769942
|
|
NM_001130987.2(DYSF):c.4254C>G (p.Pro1418=)
|
rs142769942
|
|
NM_001130987.2(DYSF):c.4263C>T (p.Val1421=)
|
rs1368093680
|
|
NM_001130987.2(DYSF):c.4266G>T (p.Lys1422Asn)
|
|
|
NM_001130987.2(DYSF):c.4269C>T (p.Val1423=)
|
|
|
NM_001130987.2(DYSF):c.426C>G (p.Pro142=)
|
rs2152728724
|
|
NM_001130987.2(DYSF):c.4272C>A (p.Ile1424=)
|
rs1465648654
|
|
NM_001130987.2(DYSF):c.4272C>T (p.Ile1424=)
|
rs1465648654
|
|
NM_001130987.2(DYSF):c.4281C>A (p.Arg1427=)
|
|
|
NM_001130987.2(DYSF):c.4284G>A (p.Gln1428=)
|
|
|
NM_001130987.2(DYSF):c.4296G>A (p.Arg1432=)
|
|
|
NM_001130987.2(DYSF):c.4308C>T (p.Gly1436=)
|
|
|
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)
|
rs139654844
|
|
NM_001130987.2(DYSF):c.4323C>A (p.Arg1441=)
|
rs758538165
|
|
NM_001130987.2(DYSF):c.4326C>T (p.Ser1442=)
|
|
|
NM_001130987.2(DYSF):c.4327C>T (p.Leu1443=)
|
|
|
NM_001130987.2(DYSF):c.432G>C (p.Pro144=)
|
rs542176164
|
|
NM_001130987.2(DYSF):c.432G>T (p.Pro144=)
|
rs542176164
|
|
NM_001130987.2(DYSF):c.4335C>T (p.Ser1445=)
|
|
|
NM_001130987.2(DYSF):c.4339C>T (p.Leu1447=)
|
|
|
NM_001130987.2(DYSF):c.4344T>C (p.Cys1448=)
|
rs2152877131
|
|
NM_001130987.2(DYSF):c.4350C>T (p.Pro1450=)
|
rs897596810
|
|
NM_001130987.2(DYSF):c.4352A>C (p.Tyr1451Ser)
|
rs757346544
|
|
NM_001130987.2(DYSF):c.4362G>A (p.Glu1454=)
|
|
|
NM_001130987.2(DYSF):c.4368A>T (p.Pro1456=)
|
|
|
NM_001130987.2(DYSF):c.436C>T (p.Leu146=)
|
rs1291278789
|
|
NM_001130987.2(DYSF):c.4371C>T (p.Ser1457=)
|
rs886043896
|
|
NM_001130987.2(DYSF):c.4387+11G>C
|
|
|
NM_001130987.2(DYSF):c.4387+15G>A
|
|
|
NM_001130987.2(DYSF):c.4387+16_4387+42del
|
rs750290973
|
|
NM_001130987.2(DYSF):c.4387+20T>C
|
|
|
NM_001130987.2(DYSF):c.4387+8A>G
|
rs2093795894
|
|
NM_001130987.2(DYSF):c.4388-12C>T
|
|
|
NM_001130987.2(DYSF):c.4388-13C>G
|
|
|
NM_001130987.2(DYSF):c.4388-15C>T
|
|
|
NM_001130987.2(DYSF):c.4388-16G>T
|
|
|
NM_001130987.2(DYSF):c.4388-5T>C
|
|
|
NM_001130987.2(DYSF):c.4388-7C>A
|
rs1209019931
|
|
NM_001130987.2(DYSF):c.4388-7C>G
|
|
|
NM_001130987.2(DYSF):c.4388-9C>A
|
|
|
NM_001130987.2(DYSF):c.438G>A (p.Leu146=)
|
|
|
NM_001130987.2(DYSF):c.4395G>C (p.Val1465=)
|
|
|
NM_001130987.2(DYSF):c.4399C>T (p.Leu1467=)
|
|
|
NM_001130987.2(DYSF):c.4401A>C (p.Leu1467=)
|
|
|
NM_001130987.2(DYSF):c.4401A>G (p.Leu1467=)
|
|
|
NM_001130987.2(DYSF):c.4401A>T (p.Leu1467=)
|
rs2093810606
|
|
NM_001130987.2(DYSF):c.4404C>G (p.Leu1468=)
|
|
|
NM_001130987.2(DYSF):c.4404C>T (p.Leu1468=)
|
rs745452114
|
|
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)
|
rs767788624
|
|
NM_001130987.2(DYSF):c.4437T>C (p.Asp1479=)
|
|
|
NM_001130987.2(DYSF):c.4440C>T (p.Asp1480=)
|
|
|
NM_001130987.2(DYSF):c.4443G>A (p.Lys1481=)
|
rs2152878085
|
|
NM_001130987.2(DYSF):c.4446G>A (p.Glu1482=)
|
rs1463408383
|
|
NM_001130987.2(DYSF):c.4449C>G (p.Pro1483=)
|
|
|
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=)
|
rs1476328093
|
|
NM_001130987.2(DYSF):c.4455C>T (p.Ile1485=)
|
|
|
NM_001130987.2(DYSF):c.4458C>T (p.Pro1486=)
|
rs777688424
|
|
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)
|
rs751456837
|
|
NM_001130987.2(DYSF):c.4464+10G>A
|
|
|
NM_001130987.2(DYSF):c.4464+17C>T
|
|
|
NM_001130987.2(DYSF):c.4528-16C>T
|
|
|
NM_001130987.2(DYSF):c.4528-4T>C
|
rs2152924642
|
|
NM_001130987.2(DYSF):c.4528-7C>G
|
rs2152924630
|
|
NM_001130987.2(DYSF):c.4528-7C>T
|
|
|
NM_001130987.2(DYSF):c.4528-8C>T
|
rs776766700
|
|
NM_001130987.2(DYSF):c.4536G>A (p.Glu1512=)
|
|
|
NM_001130987.2(DYSF):c.4554C>T (p.Ser1518=)
|
|
|
NM_001130987.2(DYSF):c.4557A>G (p.Lys1519=)
|
rs2094528367
|
|
NM_001130987.2(DYSF):c.456G>A (p.Val152=)
|
rs2152728786
|
|
NM_001130987.2(DYSF):c.4571T>C (p.Ile1524Thr)
|
|
|
NM_001130987.2(DYSF):c.4593C>T (p.Gly1531=)
|
|
|
NM_001130987.2(DYSF):c.460+17G>A
|
rs115170960
|
|
NM_001130987.2(DYSF):c.460+18G>A
|
|
|
NM_001130987.2(DYSF):c.460+20C>T
|
|
|
NM_001130987.2(DYSF):c.460+9C>T
|
rs1052225757
|
|
NM_001130987.2(DYSF):c.4619C>T (p.Thr1540Ile)
|
|
|
NM_001130987.2(DYSF):c.4620C>A (p.Thr1540=)
|
|
|
NM_001130987.2(DYSF):c.4620C>T (p.Thr1540=)
|
rs775749086
|
|
NM_001130987.2(DYSF):c.4626+10C>T
|
rs1420815050
|
|
NM_001130987.2(DYSF):c.4626+11T>A
|
|
|
NM_001130987.2(DYSF):c.4626+11T>C
|
|
|
NM_001130987.2(DYSF):c.4626+15C>T
|
|
|
NM_001130987.2(DYSF):c.4626+16A>G
|
|
|
NM_001130987.2(DYSF):c.4626+9T>A
|
|
|
NM_001130987.2(DYSF):c.4627-11A>G
|
|
|
NM_001130987.2(DYSF):c.4627-13C>T
|
|
|
NM_001130987.2(DYSF):c.4627-14C>A
|
|
|
NM_001130987.2(DYSF):c.4627-14C>G
|
|
|
NM_001130987.2(DYSF):c.4627-14C>T
|
rs2152937613
|
|
NM_001130987.2(DYSF):c.4627-18A>G
|
|
|
NM_001130987.2(DYSF):c.4650T>C (p.Asn1550=)
|
rs756403845
|
|
NM_001130987.2(DYSF):c.4659C>T (p.Ala1553=)
|
|
|
NM_001130987.2(DYSF):c.4665G>A (p.Glu1555=)
|
|
|
NM_001130987.2(DYSF):c.4669C>T (p.Leu1557=)
|
|
|
NM_001130987.2(DYSF):c.4671G>C (p.Leu1557=)
|
|
|
NM_001130987.2(DYSF):c.4680T>C (p.Phe1560=)
|
rs2152937726
|
|
NM_001130987.2(DYSF):c.4689C>G (p.Thr1563=)
|
|
|
NM_001130987.2(DYSF):c.4698G>A (p.Leu1566=)
|
rs1386985520
|
|
NM_001130987.2(DYSF):c.4703G>A (p.Arg1568Gln)
|
|
|
NM_001130987.2(DYSF):c.4704G>A (p.Arg1568=)
|
rs2094767418
|
|
NM_001130987.2(DYSF):c.4719G>A (p.Glu1573=)
|
rs2094767863
|
|
NM_001130987.2(DYSF):c.4725A>G (p.Thr1575=)
|
|
|
NM_001130987.2(DYSF):c.4731T>C (p.Asp1577=)
|
|
|
NM_001130987.2(DYSF):c.4737T>C (p.Ser1579=)
|
|
|
NM_001130987.2(DYSF):c.4755+11G>A
|
|
|
NM_001130987.2(DYSF):c.4755+12A>G
|
|
|
NM_001130987.2(DYSF):c.4755+16C>T
|
|
|
NM_001130987.2(DYSF):c.4755+17G>A
|
|
|
NM_001130987.2(DYSF):c.4755+20C>T
|
|
|
NM_001130987.2(DYSF):c.4755+7C>A
|
|
|
NM_001130987.2(DYSF):c.4755+8C>A
|
|
|
NM_001130987.2(DYSF):c.4756-12C>T
|
|
|
NM_001130987.2(DYSF):c.4756-16C>T
|
|
|
NM_001130987.2(DYSF):c.4756-17C>A
|
|
|
NM_001130987.2(DYSF):c.4756-17C>G
|
|
|
NM_001130987.2(DYSF):c.4756-17C>T
|
|
|
NM_001130987.2(DYSF):c.4756-19A>C
|
|
|
NM_001130987.2(DYSF):c.4756-8C>G
|
rs866888887
|
|
NM_001130987.2(DYSF):c.4756-8C>T
|
rs866888887
|
|
NM_001130987.2(DYSF):c.4776C>A (p.Pro1592=)
|
rs2094826612
|
|
NM_001130987.2(DYSF):c.4776C>T (p.Pro1592=)
|
|
|
NM_001130987.2(DYSF):c.4779C>T (p.Leu1593=)
|
rs1573009267
|
|
NM_001130987.2(DYSF):c.4794C>T (p.Ala1598=)
|
rs2152940963
|
|
NM_001130987.2(DYSF):c.4798C>G (p.Pro1600Ala)
|
|
|
NM_001130987.2(DYSF):c.4806C>A (p.Pro1602=)
|
|
|
NM_001130987.2(DYSF):c.4814A>T (p.Gln1605Leu)
|
|
|
NM_001130987.2(DYSF):c.4827G>A (p.Leu1609=)
|
rs2152941036
|
|
NM_001130987.2(DYSF):c.4836G>A (p.Gln1612=)
|
rs2094828072
|
|
NM_001130987.2(DYSF):c.4839A>C (p.Gly1613=)
|
rs2094828104
|
|
NM_001130987.2(DYSF):c.4860T>C (p.Arg1620=)
|
rs2152941080
|
|
NM_001130987.2(DYSF):c.4884C>T (p.Gly1628=)
|
|
|
NM_001130987.2(DYSF):c.4893C>G (p.Pro1631=)
|
rs2152941108
|
|
NM_001130987.2(DYSF):c.4896G>A (p.Lys1632=)
|
|
|
NM_001130987.2(DYSF):c.4902C>A (p.Pro1634=)
|
rs2152941119
|
|
NM_001130987.2(DYSF):c.4911+11T>C
|
|
|
NM_001130987.2(DYSF):c.4911+14A>G
|
|
|
NM_001130987.2(DYSF):c.4911+14A>T
|
|
|
NM_001130987.2(DYSF):c.4911+15G>A
|
|
|
NM_001130987.2(DYSF):c.4912-12C>T
|
rs2152943150
|
|
NM_001130987.2(DYSF):c.4912-7C>T
|
|
|
NM_001130987.2(DYSF):c.4912-8T>A
|
rs2152943167
|
|
NM_001130987.2(DYSF):c.4920T>G (p.Pro1640=)
|
rs2152943187
|
|
NM_001130987.2(DYSF):c.4950A>C (p.Ser1650=)
|
|
|
NM_001130987.2(DYSF):c.4974C>A (p.Ile1658=)
|
rs113744167
|
|
NM_001130987.2(DYSF):c.4982C>A (p.Thr1661Lys)
|
rs144383140
|
|
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)
|
rs144383140
|
|
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=)
|
rs142301132
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=)
|
rs963646326
|
|
NM_001130987.2(DYSF):c.4995A>G (p.Val1665=)
|
|
|
NM_001130987.2(DYSF):c.5003+11G>A
|
|
|
NM_001130987.2(DYSF):c.5003+18G>C
|
|
|
NM_001130987.2(DYSF):c.5003+18G>T
|
|
|
NM_001130987.2(DYSF):c.5003+19G>T
|
|
|
NM_001130987.2(DYSF):c.5003+20G>C
|
|
|
NM_001130987.2(DYSF):c.5003+9G>A
|
rs2152943335
|
|
NM_001130987.2(DYSF):c.5004-10C>T
|
rs749888904
|
|
NM_001130987.2(DYSF):c.5004-11C>A
|
|
|
NM_001130987.2(DYSF):c.5004-11C>T
|
|
|
NM_001130987.2(DYSF):c.5004-13G>C
|
|
|
NM_001130987.2(DYSF):c.5004-19G>A
|
|
|
NM_001130987.2(DYSF):c.5004-20G>A
|
|
|
NM_001130987.2(DYSF):c.5004-20G>C
|
|
|
NM_001130987.2(DYSF):c.5004-5T>G
|
|
|
NM_001130987.2(DYSF):c.5004-6C>T
|
|
|
NM_001130987.2(DYSF):c.5004-7C>T
|
rs2094956144
|
|
NM_001130987.2(DYSF):c.5004-9C>T
|
|
|
NM_001130987.2(DYSF):c.5007G>A (p.Met1669Ile)
|
|
|
NM_001130987.2(DYSF):c.5013G>A (p.Glu1671=)
|
|
|
NM_001130987.2(DYSF):c.5016G>C (p.Leu1672=)
|
|
|
NM_001130987.2(DYSF):c.5016G>T (p.Leu1672=)
|
rs2152950660
|
|
NM_001130987.2(DYSF):c.5040G>A (p.Lys1680=)
|
rs773321086
|
|
NM_001130987.2(DYSF):c.5061T>C (p.Tyr1687=)
|
|
|
NM_001130987.2(DYSF):c.5073C>T (p.Leu1691=)
|
|
|
NM_001130987.2(DYSF):c.5076C>T (p.Leu1692=)
|
rs2152950734
|
|
NM_001130987.2(DYSF):c.5094C>A (p.Ile1698=)
|
rs149087116
|
|
NM_001130987.2(DYSF):c.5100G>A (p.Glu1700=)
|
rs2094957769
|
|
NM_001130987.2(DYSF):c.5106C>G (p.Val1702=)
|
|
|
NM_001130987.2(DYSF):c.5113C>T (p.Leu1705=)
|
rs940927932
|
|
NM_001130987.2(DYSF):c.5124G>A (p.Arg1708=)
|
|
|
NM_001130987.2(DYSF):c.5127G>A (p.Leu1709=)
|
|
|
NM_001130987.2(DYSF):c.5130G>A (p.Leu1710=)
|
rs768652010
|
|
NM_001130987.2(DYSF):c.5130G>C (p.Leu1710=)
|
rs768652010
|
|
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys)
|
rs771735871
|
|
NM_001130987.2(DYSF):c.5160A>G (p.Pro1720=)
|
rs2152950858
|
|
NM_001130987.2(DYSF):c.5174+11G>A
|
|
|
NM_001130987.2(DYSF):c.5174+14G>A
|
|
|
NM_001130987.2(DYSF):c.5174+14G>C
|
|
|
NM_001130987.2(DYSF):c.5174+16C>T
|
|
|
NM_001130987.2(DYSF):c.5174+7G>C
|
|
|
NM_001130987.2(DYSF):c.5174+8G>A
|
rs1573054048
|
|
NM_001130987.2(DYSF):c.5174+9A>T
|
rs2152950897
|
|
NM_001130987.2(DYSF):c.5175-12C>T
|
|
|
NM_001130987.2(DYSF):c.5175-15G>A
|
|
|
NM_001130987.2(DYSF):c.5175-16T>G
|
|
|
NM_001130987.2(DYSF):c.5175-8C>A
|
rs1422813382
|
|
NM_001130987.2(DYSF):c.5175-8C>T
|
rs1422813382
|
|
NM_001130987.2(DYSF):c.5178T>C (p.Ser1726=)
|
|
|
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)
|
|
|
NM_001130987.2(DYSF):c.5190G>A (p.Gln1730=)
|
rs2152951711
|
|
NM_001130987.2(DYSF):c.5194C>A (p.Arg1732=)
|
|
|
NM_001130987.2(DYSF):c.5196G>A (p.Arg1732=)
|
rs2152951718
|
|
NM_001130987.2(DYSF):c.5205C>T (p.Leu1735=)
|
|
|
NM_001130987.2(DYSF):c.5220C>T (p.Leu1740=)
|
|
|
NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=)
|
rs1558771751
|
|
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe)
|
rs575920691
|
|
NM_001130987.2(DYSF):c.5241G>A (p.Gln1747=)
|
rs2152951794
|
|
NM_001130987.2(DYSF):c.5247A>G (p.Arg1749=)
|
rs750877853
|
|
NM_001130987.2(DYSF):c.5256A>G (p.Ala1752=)
|
|
|
NM_001130987.2(DYSF):c.5259T>A (p.Pro1753=)
|
|
|
NM_001130987.2(DYSF):c.5262G>A (p.Val1754=)
|
rs1382463044
|
|
NM_001130987.2(DYSF):c.5301T>C (p.Tyr1767=)
|
|
|
NM_001130987.2(DYSF):c.5304C>T (p.Ser1768=)
|
rs748704263
|
|
NM_001130987.2(DYSF):c.5310A>G (p.Glu1770=)
|
rs774051571
|
|
NM_001130987.2(DYSF):c.5317+10C>T
|
|
|
NM_001130987.2(DYSF):c.5317+13A>G
|
|
|
NM_001130987.2(DYSF):c.5317+20C>T
|
|
|
NM_001130987.2(DYSF):c.5317+9C>T
|
|
|
NM_001130987.2(DYSF):c.5318-13C>G
|
|
|
NM_001130987.2(DYSF):c.5318-18G>A
|
|
|
NM_001130987.2(DYSF):c.5318-6G>T
|
rs2152953906
|
|
NM_001130987.2(DYSF):c.5318-8del
|
rs2152953900
|
|
NM_001130987.2(DYSF):c.5318-9C>T
|
rs2152953894
|
|
NM_001130987.2(DYSF):c.5325C>G (p.Gly1775=)
|
|
|
NM_001130987.2(DYSF):c.5331C>T (p.Ile1777=)
|
rs2152953932
|
|
NM_001130987.2(DYSF):c.5349C>T (p.Gly1783=)
|
|
|
NM_001130987.2(DYSF):c.5352A>G (p.Pro1784=)
|
rs1422915675
|
|
NM_001130987.2(DYSF):c.5371C>T (p.Leu1791=)
|
|
|
NM_001130987.2(DYSF):c.5379G>A (p.Val1793=)
|
|
|
NM_001130987.2(DYSF):c.5388G>A (p.Gln1796=)
|
rs2152954008
|
|
NM_001130987.2(DYSF):c.5400C>T (p.Val1800=)
|
rs2152954016
|
|
NM_001130987.2(DYSF):c.5415G>A (p.Glu1805=)
|
rs776985747
|
|
NM_001130987.2(DYSF):c.5421G>C (p.Arg1807=)
|
rs1379550901
|
|
NM_001130987.2(DYSF):c.5436C>T (p.Pro1812=)
|
rs1378250569
|
|
NM_001130987.2(DYSF):c.5439G>A (p.Leu1813=)
|
|
|
NM_001130987.2(DYSF):c.5457+10T>G
|
|
|
NM_001130987.2(DYSF):c.5457+11G>A
|
|
|
NM_001130987.2(DYSF):c.5457+14C>G
|
rs746503236
|
|
NM_001130987.2(DYSF):c.5457+14C>T
|
|
|
NM_001130987.2(DYSF):c.5457+17T>A
|
|
|
NM_001130987.2(DYSF):c.5457+19G>A
|
|
|
NM_001130987.2(DYSF):c.5457+8C>T
|
rs2152954128
|
|
NM_001130987.2(DYSF):c.5457+9T>A
|
rs2152954132
|
|
NM_001130987.2(DYSF):c.5458-10G>A
|
rs1340953942
|
|
NM_001130987.2(DYSF):c.5458-13C>G
|
|
|
NM_001130987.2(DYSF):c.5458-13C>T
|
|
|
NM_001130987.2(DYSF):c.5458-18C>T
|
|
|
NM_001130987.2(DYSF):c.5458-4G>A
|
rs749655069
|
|
NM_001130987.2(DYSF):c.5458-4G>T
|
rs749655069
|
|
NM_001130987.2(DYSF):c.5460G>C (p.Gly1820=)
|
|
|
NM_001130987.2(DYSF):c.5460G>T (p.Gly1820=)
|
|
|
NM_001130987.2(DYSF):c.5466G>A (p.Leu1822=)
|
rs1252182958
|
|
NM_001130987.2(DYSF):c.5481C>T (p.Asp1827=)
|
|
|
NM_001130987.2(DYSF):c.5496C>T (p.Ala1832=)
|
|
|
NM_001130987.2(DYSF):c.5502G>A (p.Gly1834=)
|
|
|
NM_001130987.2(DYSF):c.5505G>A (p.Arg1835=)
|
rs763758260
|
|
NM_001130987.2(DYSF):c.5508T>C (p.Pro1836=)
|
rs1286326701
|
|
NM_001130987.2(DYSF):c.5511A>G (p.Gly1837=)
|
rs1573091416
|
|
NM_001130987.2(DYSF):c.5517C>T (p.Pro1839=)
|
rs1454018550
|
|
NM_001130987.2(DYSF):c.554-12C>T
|
|
|
NM_001130987.2(DYSF):c.554-4T>C
|
|
|
NM_001130987.2(DYSF):c.554-5C>A
|
|
|
NM_001130987.2(DYSF):c.554-7C>T
|
rs2152731653
|
|
NM_001130987.2(DYSF):c.5546+10C>G
|
|
|
NM_001130987.2(DYSF):c.5546+12A>G
|
|
|
NM_001130987.2(DYSF):c.5546+14C>T
|
|
|
NM_001130987.2(DYSF):c.5546+15C>T
|
|
|
NM_001130987.2(DYSF):c.5546+18A>G
|
|
|
NM_001130987.2(DYSF):c.5546+19G>C
|
|
|
NM_001130987.2(DYSF):c.5546+20G>A
|
rs747092306
|
|
NM_001130987.2(DYSF):c.5546+7T>C
|
rs1573092033
|
|
NM_001130987.2(DYSF):c.5546+7del
|
|
|
NM_001130987.2(DYSF):c.5547-10C>T
|
|
|
NM_001130987.2(DYSF):c.5547-13T>C
|
rs2152955889
|
|
NM_001130987.2(DYSF):c.5547-14A>T
|
rs2152955887
|
|
NM_001130987.2(DYSF):c.5547-17G>C
|
|
|
NM_001130987.2(DYSF):c.5547-18A>C
|
|
|
NM_001130987.2(DYSF):c.5547-4C>A
|
|
|
NM_001130987.2(DYSF):c.5547-5C>T
|
|
|
NM_001130987.2(DYSF):c.5559T>C (p.Arg1853=)
|
rs2152955921
|
|
NM_001130987.2(DYSF):c.555C>T (p.Asp185=)
|
rs978264910
|
|
NM_001130987.2(DYSF):c.5565T>C (p.Ile1855=)
|
rs1421293535
|
|
NM_001130987.2(DYSF):c.5586G>C (p.Val1862=)
|
rs781377361
|
|
NM_001130987.2(DYSF):c.5601G>C (p.Leu1867=)
|
|
|
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=)
|
rs759960173
|
|
NM_001130987.2(DYSF):c.5610G>C (p.Thr1870=)
|
rs759960173
|
|
NM_001130987.2(DYSF):c.5610G>T (p.Thr1870=)
|
rs759960173
|
|
NM_001130987.2(DYSF):c.561A>T (p.Gly187=)
|
|
|
NM_001130987.2(DYSF):c.5634T>C (p.Tyr1878=)
|
|
|
NM_001130987.2(DYSF):c.5642+14G>C
|
rs377398673
|
|
NM_001130987.2(DYSF):c.5642+16C>T
|
|
|
NM_001130987.2(DYSF):c.5642+17C>A
|
|
|
NM_001130987.2(DYSF):c.5642+17C>T
|
|
|
NM_001130987.2(DYSF):c.5642+19C>T
|
|
|
NM_001130987.2(DYSF):c.5643-10G>T
|
|
|
NM_001130987.2(DYSF):c.5643-11T>C
|
|
|
NM_001130987.2(DYSF):c.5643-16A>C
|
|
|
NM_001130987.2(DYSF):c.5643-19T>C
|
|
|
NM_001130987.2(DYSF):c.5643-8A>G
|
rs2152956498
|
|
NM_001130987.2(DYSF):c.567G>A (p.Glu189=)
|
|
|
NM_001130987.2(DYSF):c.5693G>A (p.Arg1898His)
|
|
|
NM_001130987.2(DYSF):c.5697C>T (p.Ser1899=)
|
rs576040501
|
|
NM_001130987.2(DYSF):c.5703A>T (p.Gly1901=)
|
rs745544823
|
|
NM_001130987.2(DYSF):c.5712C>G (p.Gly1904=)
|
|
|
NM_001130987.2(DYSF):c.5718C>T (p.Phe1906=)
|
rs1233961202
|
|
NM_001130987.2(DYSF):c.5727G>A (p.Arg1909=)
|
|
|
NM_001130987.2(DYSF):c.5730C>T (p.Phe1910=)
|
|
|
NM_001130987.2(DYSF):c.5733T>A (p.Ile1911=)
|
rs775192916
|
|
NM_001130987.2(DYSF):c.5739C>G (p.Pro1913=)
|
rs763546773
|
|
NM_001130987.2(DYSF):c.5769T>C (p.Cys1923=)
|
rs2152956665
|
|
NM_001130987.2(DYSF):c.576A>G (p.Thr192=)
|
rs2152731702
|
|
NM_001130987.2(DYSF):c.5778C>T (p.Ala1926=)
|
|
|
NM_001130987.2(DYSF):c.5784+10C>T
|
rs758268866
|
|
NM_001130987.2(DYSF):c.5784+13C>A
|
|
|
NM_001130987.2(DYSF):c.5784+14C>T
|
|
|
NM_001130987.2(DYSF):c.5784+15G>A
|
|
|
NM_001130987.2(DYSF):c.5784+15G>T
|
|
|
NM_001130987.2(DYSF):c.5784+20C>A
|
|
|
NM_001130987.2(DYSF):c.5784+7G>A
|
rs2152956677
|
|
NM_001130987.2(DYSF):c.5784+8T>C
|
rs1558788338
|
|
NM_001130987.2(DYSF):c.5784+9C>G
|
|
|
NM_001130987.2(DYSF):c.5785-12C>T
|
|
|
NM_001130987.2(DYSF):c.5785-14C>T
|
|
|
NM_001130987.2(DYSF):c.5785-15C>A
|
|
|
NM_001130987.2(DYSF):c.5785-16T>C
|
|
|
NM_001130987.2(DYSF):c.5785-20C>G
|
|
|
NM_001130987.2(DYSF):c.5785-9C>G
|
|
|
NM_001130987.2(DYSF):c.5785-9C>T
|
rs573892877
|
|
NM_001130987.2(DYSF):c.579G>A (p.Glu193=)
|
rs2152731712
|
|
NM_001130987.2(DYSF):c.5802G>A (p.Leu1934=)
|
rs767335937
|
|
NM_001130987.2(DYSF):c.5811T>A (p.Thr1937=)
|
rs1558800137
|
|
NM_001130987.2(DYSF):c.5823C>T (p.Ile1941=)
|
rs2152961305
|
|
NM_001130987.2(DYSF):c.5835G>A (p.Val1945=)
|
|
|
NM_001130987.2(DYSF):c.5856T>C (p.Asn1952=)
|
rs2152961391
|
|
NM_001130987.2(DYSF):c.5862G>A (p.Lys1954=)
|
rs903493685
|
|
NM_001130987.2(DYSF):c.5865C>T (p.Phe1955=)
|
|
|
NM_001130987.2(DYSF):c.5880T>C (p.Phe1960=)
|
|
|
NM_001130987.2(DYSF):c.5884+12T>A
|
|
|
NM_001130987.2(DYSF):c.5884+16A>G
|
|
|
NM_001130987.2(DYSF):c.5884+17_5884+18delinsTT
|
rs2152961473
|
|
NM_001130987.2(DYSF):c.5884+19A>G
|
|
|
NM_001130987.2(DYSF):c.5885-12T>A
|
|
|
NM_001130987.2(DYSF):c.5885-12T>C
|
|
|
NM_001130987.2(DYSF):c.5885-17_5885-16delinsGC
|
|
|
NM_001130987.2(DYSF):c.5885-4G>T
|
rs747361237
|
|
NM_001130987.2(DYSF):c.5885-6T>C
|
|
|
NM_001130987.2(DYSF):c.5885-7G>A
|
|
|
NM_001130987.2(DYSF):c.5885-8T>C
|
rs2152967711
|
|
NM_001130987.2(DYSF):c.5892G>A (p.Leu1964=)
|
rs746083114
|
|
NM_001130987.2(DYSF):c.5898C>G (p.Leu1966=)
|
rs770003593
|
|
NM_001130987.2(DYSF):c.5898C>T (p.Leu1966=)
|
|
|
NM_001130987.2(DYSF):c.5899G>A (p.Asp1967Asn)
|
|
|
NM_001130987.2(DYSF):c.5909G>A (p.Arg1970His)
|
|
|
NM_001130987.2(DYSF):c.5934C>A (p.Ala1978=)
|
rs886043955
|
|
NM_001130987.2(DYSF):c.5934C>T (p.Ala1978=)
|
rs886043955
|
|
NM_001130987.2(DYSF):c.593C>G (p.Thr198Ser)
|
|
|
NM_001130987.2(DYSF):c.5943C>T (p.Cys1981=)
|
rs2152967795
|
|
NM_001130987.2(DYSF):c.5946C>T (p.Ser1982=)
|
|
|
NM_001130987.2(DYSF):c.594T>C (p.Thr198=)
|
|
|
NM_001130987.2(DYSF):c.5958G>A (p.Leu1986=)
|
|
|
NM_001130987.2(DYSF):c.5964T>C (p.Asp1988=)
|
|
|
NM_001130987.2(DYSF):c.5967T>C (p.Ala1989=)
|
rs2152967832
|
|
NM_001130987.2(DYSF):c.5976A>T (p.Pro1992=)
|
rs17718530
|
|
NM_001130987.2(DYSF):c.5979A>G (p.Glu1993=)
|
|
|
NM_001130987.2(DYSF):c.5991C>G (p.Ser1997=)
|
|
|
NM_001130987.2(DYSF):c.6012G>A (p.Val2004=)
|
|
|
NM_001130987.2(DYSF):c.6027C>T (p.Pro2009=)
|
|
|
NM_001130987.2(DYSF):c.6033A>G (p.Val2011=)
|
rs2152967891
|
|
NM_001130987.2(DYSF):c.6036A>G (p.Ala2012=)
|
|
|
NM_001130987.2(DYSF):c.603G>A (p.Glu201=)
|
rs765064954
|
|
NM_001130987.2(DYSF):c.6048G>A (p.Glu2016=)
|
rs2152967903
|
|
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val)
|
rs34999029
|
|
NM_001130987.2(DYSF):c.6063+13C>T
|
|
|
NM_001130987.2(DYSF):c.6063+16C>T
|
|
|
NM_001130987.2(DYSF):c.6063+7C>T
|
rs2152967927
|
|
NM_001130987.2(DYSF):c.6063+9A>G
|
rs2152967928
|
|
NM_001130987.2(DYSF):c.6064-11dup
|
|
|
NM_001130987.2(DYSF):c.6064-12C>G
|
|
|
NM_001130987.2(DYSF):c.6064-14C>T
|
|
|
NM_001130987.2(DYSF):c.6064-15T>C
|
|
|
NM_001130987.2(DYSF):c.6064-5C>T
|
|
|
NM_001130987.2(DYSF):c.6064-8C>A
|
rs375157612
|
|
NM_001130987.2(DYSF):c.6081C>A (p.Thr2027=)
|
|
|
NM_001130987.2(DYSF):c.6081C>T (p.Thr2027=)
|
|
|
NM_001130987.2(DYSF):c.6090T>A (p.Ile2030=)
|
rs1038963029
|
|
NM_001130987.2(DYSF):c.6093A>G (p.Val2031=)
|
rs2152969992
|
|
NM_001130987.2(DYSF):c.6096A>G (p.Ala2032=)
|
rs761340591
|
|
NM_001130987.2(DYSF):c.6099G>A (p.Glu2033=)
|
|
|
NM_001130987.2(DYSF):c.6105G>A (p.Glu2035=)
|
|
|
NM_001130987.2(DYSF):c.6111G>A (p.Glu2037=)
|
rs2152970015
|
|
NM_001130987.2(DYSF):c.6114G>A (p.Glu2038=)
|
|
|
NM_001130987.2(DYSF):c.6132C>T (p.Gly2044=)
|
|
|
NM_001130987.2(DYSF):c.6133C>A (p.Arg2045=)
|
|
|
NM_001130987.2(DYSF):c.6134G>A (p.Arg2045Gln)
|
|
|
NM_001130987.2(DYSF):c.6141G>A (p.Glu2047=)
|
rs1198097946
|
|
NM_001130987.2(DYSF):c.6148A>G (p.Met2050Val)
|
|
|
NM_001130987.2(DYSF):c.6156T>C (p.Pro2052=)
|
|
|
NM_001130987.2(DYSF):c.615C>T (p.Phe205=)
|
rs2086352487
|
|
NM_001130987.2(DYSF):c.6168C>T (p.Asp2056=)
|
rs745783874
|
|
NM_001130987.2(DYSF):c.6173+11A>G
|
|
|
NM_001130987.2(DYSF):c.6173+13C>G
|
rs1479440203
|
|
NM_001130987.2(DYSF):c.6173+15C>T
|
|
|
NM_001130987.2(DYSF):c.6174-11C>T
|
|
|
NM_001130987.2(DYSF):c.6174-16G>A
|
|
|
NM_001130987.2(DYSF):c.6174-16G>C
|
|
|
NM_001130987.2(DYSF):c.6174-17C>T
|
|
|
NM_001130987.2(DYSF):c.6174-4C>G
|
|
|
NM_001130987.2(DYSF):c.6174-7C>T
|
rs2095309076
|
|
NM_001130987.2(DYSF):c.6174-8G>C
|
rs777167646
|
|
NM_001130987.2(DYSF):c.6174-9C>G
|
rs201070766
|
|
NM_001130987.2(DYSF):c.6177C>T (p.Arg2059=)
|
rs2152971873
|
|
NM_001130987.2(DYSF):c.6186C>A (p.Thr2062=)
|
|
|
NM_001130987.2(DYSF):c.6189C>A (p.Ser2063=)
|
rs200994941
|
|
NM_001130987.2(DYSF):c.618G>T (p.Leu206=)
|
|
|
NM_001130987.2(DYSF):c.6207C>A (p.Ser2069=)
|
rs754974657
|
|
NM_001130987.2(DYSF):c.6207C>G (p.Ser2069=)
|
|
|
NM_001130987.2(DYSF):c.6207C>T (p.Ser2069=)
|
rs754974657
|
|
NM_001130987.2(DYSF):c.6210A>G (p.Pro2070=)
|
rs372244975
|
|
NM_001130987.2(DYSF):c.6213C>T (p.Tyr2071=)
|
|
|
NM_001130987.2(DYSF):c.6216G>A (p.Lys2072=)
|
|
|
NM_001130987.2(DYSF):c.6219C>G (p.Thr2073=)
|
|
|
NM_001130987.2(DYSF):c.6231C>A (p.Ile2077=)
|
rs1277048306
|
|
NM_001130987.2(DYSF):c.6234G>T (p.Leu2078=)
|
|
|
NM_001130987.2(DYSF):c.6249G>C (p.Arg2083=)
|
|
|
NM_001130987.2(DYSF):c.6261C>T (p.Ile2087=)
|
|
|
NM_001130987.2(DYSF):c.6267C>T (p.Phe2089=)
|
|
|
NM_001130987.2(DYSF):c.6279C>T (p.Phe2093=)
|
|
|
NM_001130987.2(DYSF):c.6282C>A (p.Ile2094=)
|
rs561011151
|
|
NM_001130987.2(DYSF):c.6286C>T (p.Leu2096=)
|
rs1323707735
|
|
NM_001130987.2(DYSF):c.6303C>T (p.Ile2101=)
|
|
|
NM_001130987.2(DYSF):c.6321+10C>G
|
|
|
NM_001130987.2(DYSF):c.6321+16G>A
|
|
|
NM_001130987.2(DYSF):c.6321+19A>C
|
|
|
NM_001130987.2(DYSF):c.6321+9G>A
|
|
|
NM_001130987.2(DYSF):c.6322-10C>T
|
|
|
NM_001130987.2(DYSF):c.6322-14C>T
|
|
|
NM_001130987.2(DYSF):c.6322-15C>G
|
|
|
NM_001130987.2(DYSF):c.6322-18T>A
|
|
|
NM_001130987.2(DYSF):c.6322-19G>T
|
rs751319354
|
|
NM_001130987.2(DYSF):c.6322-4C>T
|
|
|
NM_001130987.2(DYSF):c.6322-8C>T
|
|
|
NM_001130987.2(DYSF):c.6330T>C (p.Ala2110=)
|
rs2152976511
|
|
NM_001130987.2(DYSF):c.6333C>T (p.Ala2111=)
|
rs2152976519
|
|
NM_001130987.2(DYSF):c.633C>A (p.Gly211=)
|
|
|
NM_001130987.2(DYSF):c.633C>T (p.Gly211=)
|
|
|
NM_001130987.2(DYSF):c.6340C>T (p.Leu2114=)
|
|
|
NM_001130987.2(DYSF):c.6345G>A (p.Val2115=)
|
|
|
NM_001130987.2(DYSF):c.6348G>A (p.Lys2116=)
|
|
|
NM_001130987.2(DYSF):c.6351C>T (p.Pro2117=)
|
rs1434927162
|
|
NM_001130987.2(DYSF):c.6359G>A (p.Ter2120=)
|
rs762886006
|
|
NM_001130987.2(DYSF):c.635C>T (p.Pro212Leu)
|
|
|
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu)
|
rs752497222
|
|
NM_001130987.2(DYSF):c.657G>A (p.Arg219=)
|
rs267599439
|
|
NM_001130987.2(DYSF):c.660A>G (p.Lys220=)
|
|
|
NM_001130987.2(DYSF):c.661C>T (p.Leu221=)
|
|
|
NM_001130987.2(DYSF):c.677C>A (p.Pro226Gln)
|
|
|
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu)
|
rs201980470
|
|
NM_001130987.2(DYSF):c.691G>A (p.Gly231Arg)
|
|
|
NM_001130987.2(DYSF):c.696C>T (p.Ile232=)
|
rs2152731924
|
|
NM_001130987.2(DYSF):c.702A>G (p.Arg234=)
|
rs2152731933
|
|
NM_001130987.2(DYSF):c.705G>A (p.Lys235=)
|
rs2086363454
|
|
NM_001130987.2(DYSF):c.738A>G (p.Ser246=)
|
rs777877625
|
|
NM_001130987.2(DYSF):c.747G>T (p.Pro249=)
|
|
|
NM_001130987.2(DYSF):c.759+13C>A
|
|
|
NM_001130987.2(DYSF):c.759+17C>A
|
|
|
NM_001130987.2(DYSF):c.759+8A>G
|
rs2152732038
|
|
NM_001130987.2(DYSF):c.759+9C>G
|
rs761537567
|
|
NM_001130987.2(DYSF):c.760-12T>C
|
|
|
NM_001130987.2(DYSF):c.760-12T>G
|
|
|
NM_001130987.2(DYSF):c.760-14C>A
|
|
|
NM_001130987.2(DYSF):c.760-15C>A
|
|
|
NM_001130987.2(DYSF):c.760-6T>C
|
rs1219777786
|
|
NM_001130987.2(DYSF):c.760-7C>T
|
|
|
NM_001130987.2(DYSF):c.760-8_760-7insAT
|
rs2086572242
|
|
NM_001130987.2(DYSF):c.762C>T (p.Ile254=)
|
|
|
NM_001130987.2(DYSF):c.765G>A (p.Arg255=)
|
rs2152734356
|
|
NM_001130987.2(DYSF):c.766G>A (p.Val256Ile)
|
|
|
NM_001130987.2(DYSF):c.780G>A (p.Glu260=)
|
|
|
NM_001130987.2(DYSF):c.783G>A (p.Gly261=)
|
rs2152734405
|
|
NM_001130987.2(DYSF):c.795G>A (p.Pro265=)
|
rs751967195
|
|
NM_001130987.2(DYSF):c.798G>T (p.Gly266=)
|
|
|
NM_001130987.2(DYSF):c.801G>A (p.Val267=)
|
rs2086577446
|
|
NM_001130987.2(DYSF):c.813T>C (p.Pro271=)
|
|
|
NM_001130987.2(DYSF):c.819C>A (p.Val273=)
|
|
|
NM_001130987.2(DYSF):c.819C>G (p.Val273=)
|
rs1573657928
|
|
NM_001130987.2(DYSF):c.828C>A (p.Thr276=)
|
|
|
NM_001130987.2(DYSF):c.831T>C (p.Ala277=)
|
|
|
NM_001130987.2(DYSF):c.847C>A (p.Arg283=)
|
rs769180834
|
|
NM_001130987.2(DYSF):c.848G>A (p.Arg283Gln)
|
|
|
NM_001130987.2(DYSF):c.852G>A (p.Thr284=)
|
rs1454893867
|
|
NM_001130987.2(DYSF):c.882C>T (p.Phe294=)
|
rs2152734587
|
|
NM_001130987.2(DYSF):c.888+11T>A
|
|
|
NM_001130987.2(DYSF):c.888+11del
|
|
|
NM_001130987.2(DYSF):c.888+12G>C
|
|
|
NM_001130987.2(DYSF):c.888+14G>C
|
|
|
NM_001130987.2(DYSF):c.888+17A>G
|
|
|
NM_001130987.2(DYSF):c.888+7G>A
|
|
|
NM_001130987.2(DYSF):c.888+9C>T
|
rs2152734615
|
|
NM_001130987.2(DYSF):c.889-10G>A
|
|
|
NM_001130987.2(DYSF):c.889-13T>C
|
|
|
NM_001130987.2(DYSF):c.889-13T>G
|
|
|
NM_001130987.2(DYSF):c.889-15G>A
|
|
|
NM_001130987.2(DYSF):c.889-16T>C
|
|
|
NM_001130987.2(DYSF):c.889-20T>C
|
|
|
NM_001130987.2(DYSF):c.889-4dup
|
rs2086631948
|
|
NM_001130987.2(DYSF):c.889-9A>G
|
|
|
NM_001130987.2(DYSF):c.891T>C (p.Thr297=)
|
rs2152735262
|
|
NM_001130987.2(DYSF):c.92-11G>A
|
rs1334352542
|
|
NM_001130987.2(DYSF):c.92-12T>C
|
|
|
NM_001130987.2(DYSF):c.92-13G>C
|
|
|
NM_001130987.2(DYSF):c.92-13G>T
|
|
|
NM_001130987.2(DYSF):c.92-17T>G
|
|
|
NM_001130987.2(DYSF):c.92-18C>G
|
|
|
NM_001130987.2(DYSF):c.92-19C>T
|
|
|
NM_001130987.2(DYSF):c.92-20C>T
|
|
|
NM_001130987.2(DYSF):c.92-4G>A
|
rs1449269717
|
|
NM_001130987.2(DYSF):c.92-5T>C
|
|
|
NM_001130987.2(DYSF):c.92-9C>T
|
rs2152680440
|
|
NM_001130987.2(DYSF):c.925C>T (p.Leu309=)
|
rs2152735318
|
|
NM_001130987.2(DYSF):c.933T>C (p.Asp311=)
|
|
|
NM_001130987.2(DYSF):c.939C>T (p.Pro313=)
|
|
|
NM_001130987.2(DYSF):c.93G>A (p.Gly31=)
|
|
|
NM_001130987.2(DYSF):c.93G>C (p.Gly31=)
|
rs2152680463
|
|
NM_001130987.2(DYSF):c.948C>T (p.Ile316=)
|
rs2152735354
|
|
NM_001130987.2(DYSF):c.951+10A>G
|
|
|
NM_001130987.2(DYSF):c.951+11G>A
|
|
|
NM_001130987.2(DYSF):c.951+20G>A
|
|
|
NM_001130987.2(DYSF):c.951+7C>G
|
|
|
NM_001130987.2(DYSF):c.951+8T>G
|
rs2086639271
|
|
NM_001130987.2(DYSF):c.952-14A>T
|
|
|
NM_001130987.2(DYSF):c.952-15del
|
|
|
NM_001130987.2(DYSF):c.952-6C>G
|
|
|
NM_001130987.2(DYSF):c.952-6C>T
|
|
|
NM_001130987.2(DYSF):c.952-9del
|
rs2152736689
|
|
NM_001130987.2(DYSF):c.963T>G (p.Ser321=)
|
rs2152736743
|
|
NM_001130987.2(DYSF):c.969T>C (p.Ser323=)
|
|
|
NM_001130987.2(DYSF):c.978A>G (p.Thr326=)
|
|
|
NM_001130987.2(DYSF):c.987C>G (p.Leu329=)
|
rs2152736782
|
|
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)
|
rs539484245
|
|
NM_001130987.2(DYSF):c.996G>A (p.Glu332=)
|
rs2152736816
|
|
NM_003494.4(DYSF):c.1485G>A (p.Glu495=)
|
rs944668036
|
|
NM_003494.4(DYSF):c.1491A>C (p.Ala497=)
|
|
|
NM_003494.4(DYSF):c.1491A>G (p.Ala497=)
|
|
|
NM_003494.4(DYSF):c.18C>T (p.Ile6=)
|
rs2080944093
|
|
NM_003494.4(DYSF):c.21C>T (p.Leu7=)
|
|
|
NM_003494.4(DYSF):c.27C>T (p.Ala9=)
|
|
|
NM_003494.4(DYSF):c.30G>A (p.Glu10=)
|
|
|
NM_003494.4(DYSF):c.33C>T (p.Asn11=)
|
|
|
NM_003494.4(DYSF):c.36C>T (p.Val12=)
|
|
|
NM_003494.4(DYSF):c.45C>G (p.Pro15=)
|
|
|
NM_003494.4(DYSF):c.45C>T (p.Pro15=)
|
|
|
NM_003494.4(DYSF):c.46G>C (p.Asp16His)
|
|
|
NM_003494.4(DYSF):c.4C>T (p.Leu2=)
|
rs772536111
|
|
NM_003494.4(DYSF):c.63T>C (p.Asp21=)
|
rs2152620814
|
|
NM_003494.4(DYSF):c.66C>A (p.Ala22=)
|
|
|
NM_003494.4(DYSF):c.72C>T (p.Cys24=)
|
|
|
NM_003494.4(DYSF):c.75C>T (p.Ser25=)
|
rs375772222
|
|
NM_003494.4(DYSF):c.84T>C (p.Phe28=)
|
rs1261407949
|
|
NM_003494.4(DYSF):c.88+10G>A
|
|
|
NM_003494.4(DYSF):c.88+11C>T
|
|
|
NM_003494.4(DYSF):c.88+12C>G
|
|
|
NM_003494.4(DYSF):c.88+13G>A
|
|
|
NM_003494.4(DYSF):c.88+15C>A
|
|
|
NM_003494.4(DYSF):c.88+19C>T
|
|
|
NM_003494.4(DYSF):c.88+20C>T
|
|
|
NM_003494.4(DYSF):c.9G>A (p.Arg3=)
|
rs2152620707
|
|