NM_022455.5(NSD1):c.3796+108C>G
|
rs6556305
|
0.91525
|
NM_022455.5(NSD1):c.1064-137T>C
|
rs7721671
|
0.83210
|
NM_022455.5(NSD1):c.5622+100G>A
|
rs12660023
|
0.63274
|
NM_022455.5(NSD1):c.6464-67A>G
|
rs6872201
|
0.45885
|
NM_022455.5(NSD1):c.1482C>T (p.Cys494=)
|
rs1363405
|
0.36334
|
NM_022455.5(NSD1):c.-18+160T>C
|
rs3733873
|
0.33912
|
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=)
|
rs11740250
|
0.16701
|
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro)
|
rs28932178
|
0.15259
|
NM_022455.5(NSD1):c.1749G>A (p.Glu583=)
|
rs3733874
|
0.12785
|
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu)
|
rs3733875
|
0.12636
|
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=)
|
rs28932181
|
0.10490
|
NM_022455.5(NSD1):c.1237-246G>A
|
rs141260503
|
0.10468
|
NM_022455.5(NSD1):c.4766-158A>G
|
rs6890368
|
0.08903
|
NM_022455.5(NSD1):c.4966+81T>C
|
rs6872392
|
0.08417
|
NM_022455.5(NSD1):c.5622+187C>T
|
rs112423577
|
0.08318
|
NM_022455.5(NSD1):c.5147-82T>A
|
rs10071491
|
0.08311
|
NM_022455.5(NSD1):c.5893-133G>A
|
rs72813176
|
0.06049
|
NM_022455.5(NSD1):c.5147-294T>C
|
rs60761205
|
0.04831
|
NM_022455.5(NSD1):c.6463+196G>A
|
rs11953271
|
0.04797
|
NM_022455.5(NSD1):c.6010-104G>A
|
rs77309295
|
0.04791
|
NM_022455.5(NSD1):c.5623-22G>A
|
rs79098301
|
0.04787
|
NM_022455.5(NSD1):c.4967-160T>G
|
rs76796411
|
0.04785
|
NM_022455.5(NSD1):c.5304-183A>G
|
rs75441502
|
0.04785
|
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile)
|
rs35848863
|
0.04785
|
NM_022455.5(NSD1):c.3797-248T>A
|
rs75737978
|
0.04784
|
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr)
|
rs34165241
|
0.04781
|
NM_022455.5(NSD1):c.6464-289del
|
rs565213549
|
0.03943
|
NM_022455.5(NSD1):c.4966+77C>T
|
rs550169914
|
0.03820
|
NM_022455.5(NSD1):c.4765+90G>A
|
rs56991691
|
0.02827
|
NM_022455.5(NSD1):c.1064-194T>C
|
rs10475644
|
0.02825
|
NM_022455.5(NSD1):c.4766-196C>T
|
rs116835936
|
0.02822
|
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)
|
rs28932179
|
0.02602
|
NM_022455.5(NSD1):c.4967-175G>T
|
rs80104688
|
0.02601
|
NM_022455.5(NSD1):c.1237-87dup
|
rs149092444
|
0.02433
|
NM_022455.5(NSD1):c.3796+292del
|
rs1354272502
|
0.02302
|
NM_022455.5(NSD1):c.4641+98A>G
|
rs12055154
|
0.02194
|
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr)
|
rs78247455
|
0.02182
|
NM_022455.5(NSD1):c.6010-162T>G
|
rs78504286
|
0.02032
|
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr)
|
rs28932177
|
0.01809
|
NM_022455.5(NSD1):c.927+48A>G
|
rs79928962
|
0.01809
|
NM_022455.5(NSD1):c.3796+290del
|
rs1562214821
|
0.01527
|
NM_022455.5(NSD1):c.5510-112G>A
|
rs59258749
|
0.01246
|
NM_022455.5(NSD1):c.4302+252G>C
|
rs115723131
|
0.00836
|
NM_022455.5(NSD1):c.4966+160A>G
|
rs139502611
|
0.00827
|
NM_022455.5(NSD1):c.3796+21dup
|
rs552714235
|
0.00822
|
NM_022455.5(NSD1):c.6152-171T>C
|
rs79027751
|
0.00812
|
NM_022455.5(NSD1):c.5146+255T>C
|
rs192689485
|
0.00701
|
NM_022455.5(NSD1):c.6259-59G>A
|
rs76116584
|
0.00687
|
NM_022455.5(NSD1):c.4497+141A>G
|
rs71601347
|
0.00669
|
NM_022455.5(NSD1):c.3797-66C>A
|
rs114246039
|
0.00632
|
NM_022455.5(NSD1):c.6463+250C>A
|
rs537540896
|
0.00621
|
NM_022455.5(NSD1):c.4302+133A>G
|
rs114680977
|
0.00589
|
NM_022455.5(NSD1):c.6151+137G>A
|
rs115143521
|
0.00513
|
NM_022455.5(NSD1):c.1792T>C (p.Leu598=)
|
rs28932176
|
0.00477
|
NM_022455.5(NSD1):c.5510-286del
|
rs201566409
|
0.00457
|
NM_022455.5(NSD1):c.-17-106A>G
|
rs73806730
|
0.00454
|
NM_022455.5(NSD1):c.5304-190T>G
|
rs73806745
|
0.00454
|
NM_022455.5(NSD1):c.2169C>T (p.Thr723=)
|
rs11948062
|
0.00453
|
NM_022455.5(NSD1):c.3797-283T>C
|
rs116559875
|
0.00452
|
NM_022455.5(NSD1):c.4497+329dup
|
rs201565305
|
0.00452
|
NM_022455.5(NSD1):c.5146+84T>C
|
rs141637983
|
0.00451
|
NM_022455.5(NSD1):c.-17-340C>T
|
rs116419640
|
0.00450
|
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser)
|
rs116520623
|
0.00445
|
NM_022455.5(NSD1):c.5147-49A>C
|
rs74436451
|
0.00398
|
NM_022455.5(NSD1):c.6151+221A>G
|
rs137945358
|
0.00349
|
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met)
|
rs144900277
|
0.00206
|
NM_022455.5(NSD1):c.2295C>T (p.Asn765=)
|
rs146767413
|
0.00196
|
NM_022455.5(NSD1):c.1149C>T (p.Ile383=)
|
rs34921128
|
0.00190
|
NM_022455.5(NSD1):c.4378+26C>T
|
rs139601377
|
0.00189
|
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)
|
rs77618751
|
0.00188
|
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=)
|
rs148891711
|
0.00173
|
NM_022455.5(NSD1):c.6009+201_6009+203dup
|
rs558016724
|
0.00164
|
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)
|
rs149334244
|
0.00145
|
NM_022455.5(NSD1):c.2835T>C (p.Ser945=)
|
rs145987330
|
0.00133
|
NM_022455.5(NSD1):c.6464-20A>G
|
rs371359117
|
0.00130
|
NM_022455.5(NSD1):c.5147-45C>G
|
rs201065957
|
0.00103
|
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298
|
0.00088
|
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln)
|
rs138405802
|
0.00087
|
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008
|
0.00086
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
NM_022455.5(NSD1):c.1980C>T (p.Asn660=)
|
rs140072393
|
0.00069
|
NM_022455.5(NSD1):c.480C>T (p.Asp160=)
|
rs79427433
|
0.00061
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
NM_022455.5(NSD1):c.3922-40A>G
|
rs79222656
|
0.00056
|
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)
|
rs150854966
|
0.00052
|
NM_022455.5(NSD1):c.1064-32C>G
|
rs368549002
|
0.00050
|
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)
|
rs199814669
|
0.00042
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
NM_022455.5(NSD1):c.4379-15A>G
|
rs143520065
|
0.00036
|
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser)
|
rs148839758
|
0.00034
|
NM_022455.5(NSD1):c.639C>T (p.Ser213=)
|
rs755931458
|
0.00032
|
NM_022455.5(NSD1):c.4497+52C>T
|
rs372432409
|
0.00031
|
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)
|
rs142703625
|
0.00028
|
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala)
|
rs193290006
|
0.00025
|
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)
|
rs143159630
|
0.00025
|
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)
|
rs143571876
|
0.00024
|
NM_022455.5(NSD1):c.4966+30T>C
|
rs75429143
|
0.00023
|
NM_022455.5(NSD1):c.2861A>C (p.Lys954Thr)
|
rs555067830
|
0.00022
|
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys)
|
rs138673583
|
0.00022
|
NM_022455.5(NSD1):c.1635G>A (p.Thr545=)
|
rs371958844
|
0.00021
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile)
|
rs199574095
|
0.00020
|
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)
|
rs146601031
|
0.00019
|
NM_022455.5(NSD1):c.6464-5T>C
|
rs545039997
|
0.00019
|
NM_022455.5(NSD1):c.6464-8G>T
|
rs577262396
|
0.00019
|
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn)
|
rs772981865
|
0.00019
|
NM_022455.5(NSD1):c.2427G>A (p.Glu809=)
|
rs61744224
|
0.00018
|
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)
|
rs200115665
|
0.00018
|
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr)
|
rs201823140
|
0.00018
|
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)
|
rs559617787
|
0.00017
|
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)
|
rs61756006
|
0.00016
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg)
|
rs374110615
|
0.00015
|
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu)
|
rs201327209
|
0.00014
|
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=)
|
rs201312975
|
0.00014
|
NM_022455.5(NSD1):c.7057C>T (p.Pro2353Ser)
|
rs758794360
|
0.00013
|
NM_022455.5(NSD1):c.5303+23A>G
|
rs375503261
|
0.00012
|
NM_022455.5(NSD1):c.6276G>A (p.Thr2092=)
|
rs138041618
|
0.00012
|
NM_022455.5(NSD1):c.7933C>T (p.Leu2645=)
|
rs61730553
|
0.00012
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
NM_022455.5(NSD1):c.4192+48A>T
|
rs753269790
|
0.00011
|
NM_022455.5(NSD1):c.1317C>T (p.Asn439=)
|
rs150421873
|
0.00010
|
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)
|
rs763399938
|
0.00010
|
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)
|
rs140229717
|
0.00010
|
NM_022455.5(NSD1):c.4966+6G>A
|
rs373129093
|
0.00010
|
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)
|
rs143585233
|
0.00009
|
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala)
|
rs375051877
|
0.00009
|
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)
|
rs747298351
|
0.00009
|
NM_022455.5(NSD1):c.6429C>T (p.His2143=)
|
rs121908068
|
0.00009
|
NM_022455.5(NSD1):c.72C>T (p.Ala24=)
|
rs147146776
|
0.00009
|
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys)
|
rs377684553
|
0.00008
|
NM_022455.5(NSD1):c.6259-8A>T
|
rs370529039
|
0.00008
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
NM_022455.5(NSD1):c.1095C>T (p.Tyr365=)
|
rs200080728
|
0.00007
|
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)
|
rs200856103
|
0.00007
|
NM_022455.5(NSD1):c.3090G>T (p.Leu1030Phe)
|
rs201860097
|
0.00007
|
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg)
|
rs142544192
|
0.00006
|
NM_022455.5(NSD1):c.2031T>G (p.Ser677=)
|
rs143705256
|
0.00006
|
NM_022455.5(NSD1):c.4642-7T>C
|
rs183928380
|
0.00006
|
NM_022455.5(NSD1):c.6258+47C>G
|
rs187713824
|
0.00006
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)
|
rs142023792
|
0.00005
|
NM_022455.5(NSD1):c.3741G>A (p.Met1247Ile)
|
rs760307871
|
0.00005
|
NM_022455.5(NSD1):c.4303-4A>G
|
rs775759198
|
0.00005
|
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=)
|
rs756321444
|
0.00005
|
NM_022455.5(NSD1):c.7251A>T (p.Arg2417Ser)
|
rs776952596
|
0.00005
|
NM_022455.5(NSD1):c.1782T>C (p.Pro594=)
|
rs200002555
|
0.00004
|
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu)
|
rs374740802
|
0.00004
|
NM_022455.5(NSD1):c.2425G>A (p.Glu809Lys)
|
rs371421105
|
0.00004
|
NM_022455.5(NSD1):c.2766G>A (p.Thr922=)
|
rs369705297
|
0.00004
|
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)
|
rs188847458
|
0.00004
|
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=)
|
rs541077303
|
0.00004
|
NM_022455.5(NSD1):c.3540A>G (p.Lys1180=)
|
rs776683728
|
0.00004
|
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)
|
rs574641900
|
0.00004
|
NM_022455.5(NSD1):c.5007C>T (p.His1669=)
|
rs146414176
|
0.00004
|
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val)
|
rs746599803
|
0.00004
|
NM_022455.5(NSD1):c.708G>C (p.Gln236His)
|
rs28932175
|
0.00004
|
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile)
|
rs148027433
|
0.00004
|
NM_022455.5(NSD1):c.7367T>C (p.Met2456Thr)
|
rs761179792
|
0.00004
|
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile)
|
rs373787813
|
0.00004
|
NM_022455.5(NSD1):c.1770A>G (p.Leu590=)
|
rs398124373
|
0.00003
|
NM_022455.5(NSD1):c.1830A>G (p.Gln610=)
|
rs759706066
|
0.00003
|
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)
|
rs773904155
|
0.00003
|
NM_022455.5(NSD1):c.2765C>T (p.Thr922Met)
|
rs753460351
|
0.00003
|
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg)
|
rs764231926
|
0.00003
|
NM_022455.5(NSD1):c.3307G>A (p.Asp1103Asn)
|
rs746210838
|
0.00003
|
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)
|
rs570278983
|
0.00003
|
NM_022455.5(NSD1):c.3588G>T (p.Val1196=)
|
rs549662786
|
0.00003
|
NM_022455.5(NSD1):c.3764G>A (p.Ser1255Asn)
|
rs1389749444
|
0.00003
|
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=)
|
rs745760201
|
0.00003
|
NM_022455.5(NSD1):c.6788C>T (p.Ser2263Leu)
|
rs373571733
|
0.00003
|
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala)
|
rs770522999
|
0.00003
|
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu)
|
rs201609442
|
0.00003
|
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr)
|
rs587784075
|
0.00002
|
NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly)
|
rs1046371505
|
0.00002
|
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met)
|
rs774810620
|
0.00002
|
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu)
|
rs773591859
|
0.00002
|
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr)
|
rs202208033
|
0.00002
|
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp)
|
rs771467409
|
0.00002
|
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=)
|
rs587784136
|
0.00002
|
NM_022455.5(NSD1):c.5892+26A>G
|
rs760933594
|
0.00002
|
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)
|
rs754309202
|
0.00002
|
NM_022455.5(NSD1):c.7164G>A (p.Pro2388=)
|
rs780619128
|
0.00002
|
NM_022455.5(NSD1):c.7562C>A (p.Ala2521Asp)
|
rs775806970
|
0.00002
|
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)
|
rs147033795
|
0.00002
|
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr)
|
rs756449994
|
0.00001
|
NM_022455.5(NSD1):c.1716C>T (p.Ser572=)
|
rs375093905
|
0.00001
|
NM_022455.5(NSD1):c.1894C>A (p.Arg632=)
|
rs1481136060
|
0.00001
|
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly)
|
rs754514832
|
0.00001
|
NM_022455.5(NSD1):c.2103G>A (p.Lys701=)
|
rs727504053
|
0.00001
|
NM_022455.5(NSD1):c.2345G>A (p.Ser782Asn)
|
rs769773081
|
0.00001
|
NM_022455.5(NSD1):c.2748T>G (p.Asp916Glu)
|
rs1268847680
|
0.00001
|
NM_022455.5(NSD1):c.293A>T (p.Gln98Leu)
|
rs779850742
|
0.00001
|
NM_022455.5(NSD1):c.2985A>G (p.Leu995=)
|
rs398124376
|
0.00001
|
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His)
|
rs750354456
|
0.00001
|
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala)
|
rs727504054
|
0.00001
|
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg)
|
rs143406017
|
0.00001
|
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His)
|
rs111638717
|
0.00001
|
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=)
|
rs398124377
|
0.00001
|
NM_022455.5(NSD1):c.3657A>G (p.Thr1219=)
|
rs886060442
|
0.00001
|
NM_022455.5(NSD1):c.3766T>A (p.Leu1256Met)
|
rs1276998178
|
0.00001
|
NM_022455.5(NSD1):c.3836A>G (p.Lys1279Arg)
|
rs1765400330
|
0.00001
|
NM_022455.5(NSD1):c.383A>G (p.Gln128Arg)
|
rs764617265
|
0.00001
|
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp)
|
rs1765619618
|
0.00001
|
NM_022455.5(NSD1):c.4724A>T (p.Glu1575Val)
|
rs1237319595
|
0.00001
|
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr)
|
rs530920626
|
0.00001
|
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)
|
rs587784154
|
0.00001
|
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=)
|
rs771993179
|
0.00001
|
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile)
|
rs1240149522
|
0.00001
|
NM_022455.5(NSD1):c.7072G>C (p.Asp2358His)
|
rs144023511
|
0.00001
|
NM_022455.5(NSD1):c.7137A>G (p.Ser2379=)
|
rs762447935
|
0.00001
|
NM_022455.5(NSD1):c.7487G>T (p.Gly2496Val)
|
rs556993869
|
0.00001
|
NM_022455.5(NSD1):c.7631C>T (p.Ala2544Val)
|
rs758398402
|
0.00001
|
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val)
|
rs755285941
|
0.00001
|
NM_022455.5(NSD1):c.7742A>G (p.Lys2581Arg)
|
rs398124387
|
0.00001
|
NM_022455.5(NSD1):c.7753G>A (p.Gly2585Arg)
|
rs140839289
|
0.00001
|
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=)
|
rs398124388
|
0.00001
|
NM_022455.5(NSD1):c.7780G>A (p.Ala2594Thr)
|
rs146010779
|
0.00001
|
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr)
|
rs188326949
|
0.00001
|
GRCh37/hg19 5q35.2-35.3(chr5:176582117-176600839)x1
|
|
|
GRCh37/hg19 5q35.3(chr5:176639461-176645012)x3
|
|
|
NM_022455.5(NSD1):c.1034_1037dup (p.Leu346fs)
|
rs2149821358
|
|
NM_022455.5(NSD1):c.1047A>G (p.Thr349=)
|
rs1581254386
|
|
NM_022455.5(NSD1):c.1052C>G (p.Ser351Ter)
|
rs1761728622
|
|
NM_022455.5(NSD1):c.105T>G (p.Gly35=)
|
rs2149755343
|
|
NM_022455.5(NSD1):c.1064-5C>A
|
rs961502921
|
|
NM_022455.5(NSD1):c.1089G>A (p.Gln363=)
|
|
|
NM_022455.5(NSD1):c.1096G>A (p.Val366Met)
|
rs1172667661
|
|
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg)
|
rs1762711811
|
|
NM_022455.5(NSD1):c.1204G>C (p.Gly402Arg)
|
rs1762715103
|
|
NM_022455.5(NSD1):c.1212_1213del (p.Lys405fs)
|
rs886041217
|
|
NM_022455.5(NSD1):c.1216_1219del (p.Glu406fs)
|
rs2149836382
|
|
NM_022455.5(NSD1):c.1236+5G>A
|
|
|
NM_022455.5(NSD1):c.1236+9C>A
|
rs886042263
|
|
NM_022455.5(NSD1):c.1237-108C>A
|
rs1407014054
|
|
NM_022455.5(NSD1):c.1237-90del
|
rs11322143
|
|
NM_022455.5(NSD1):c.1237-92del
|
rs560987364
|
|
NM_022455.5(NSD1):c.1237-92dup
|
rs560987364
|
|
NM_022455.5(NSD1):c.1260A>G (p.Lys420=)
|
rs1397377820
|
|
NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter)
|
rs367809750
|
|
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter)
|
rs121908067
|
|
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)
|
rs1270264665
|
|
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr)
|
rs1763180633
|
|
NM_022455.5(NSD1):c.1327_1328del (p.Ile443fs)
|
rs1581314832
|
|
NM_022455.5(NSD1):c.1331del (p.Pro444fs)
|
rs2149842659
|
|
NM_022455.5(NSD1):c.1338A>T (p.Ser446=)
|
rs2149842674
|
|
NM_022455.5(NSD1):c.1372G>A (p.Glu458Lys)
|
|
|
NM_022455.5(NSD1):c.1372G>C (p.Glu458Gln)
|
rs2149842728
|
|
NM_022455.5(NSD1):c.1397C>G (p.Ser466Ter)
|
rs1057520581
|
|
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)
|
rs1336273625
|
|
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)
|
rs1581315609
|
|
NM_022455.5(NSD1):c.1499G>C (p.Arg500Thr)
|
rs867877508
|
|
NM_022455.5(NSD1):c.153G>A (p.Ser51=)
|
rs727504052
|
|
NM_022455.5(NSD1):c.1554T>G (p.Phe518Leu)
|
|
|
NM_022455.5(NSD1):c.1562A>G (p.His521Arg)
|
|
|
NM_022455.5(NSD1):c.1621G>A (p.Asp541Asn)
|
|
|
NM_022455.5(NSD1):c.1676C>T (p.Thr559Ile)
|
|
|
NM_022455.5(NSD1):c.1694C>T (p.Pro565Leu)
|
|
|
NM_022455.5(NSD1):c.1711T>G (p.Ser571Ala)
|
|
|
NM_022455.5(NSD1):c.1739_1740del (p.Lys580fs)
|
rs1064796222
|
|
NM_022455.5(NSD1):c.173A>G (p.Gln58Arg)
|
|
|
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs)
|
rs2149843640
|
|
NM_022455.5(NSD1):c.1769T>C (p.Leu590Ser)
|
rs1763219171
|
|
NM_022455.5(NSD1):c.1775G>A (p.Gly592Asp)
|
|
|
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
|
rs587784076
|
|
NM_022455.5(NSD1):c.1824del (p.Lys608fs)
|
rs786205648
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
NM_022455.5(NSD1):c.1837C>G (p.Leu613Val)
|
|
|
NM_022455.5(NSD1):c.1852A>G (p.Lys618Glu)
|
|
|
NM_022455.5(NSD1):c.1964G>A (p.Ser655Asn)
|
|
|
NM_022455.5(NSD1):c.1980C>A (p.Asn660Lys)
|
rs140072393
|
|
NM_022455.5(NSD1):c.2047_2048del (p.Lys683fs)
|
rs587784079
|
|
NM_022455.5(NSD1):c.2054dup (p.Tyr686fs)
|
rs1554189269
|
|
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter)
|
rs786205576
|
|
NM_022455.5(NSD1):c.2073C>T (p.Ala691=)
|
rs1054023528
|
|
NM_022455.5(NSD1):c.2091A>G (p.Lys697=)
|
|
|
NM_022455.5(NSD1):c.2108del (p.Leu703fs)
|
rs886041550
|
|
NM_022455.5(NSD1):c.2152_2153del (p.Ser718fs)
|
rs1064796161
|
|
NM_022455.5(NSD1):c.2163_2169del (p.Gly722fs)
|
rs886041832
|
|
NM_022455.5(NSD1):c.2209A>G (p.Thr737Ala)
|
|
|
NM_022455.5(NSD1):c.2225C>G (p.Pro742Arg)
|
rs777960412
|
|
NM_022455.5(NSD1):c.2276C>A (p.Ser759Ter)
|
rs587784084
|
|
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val)
|
rs375566261
|
|
NM_022455.5(NSD1):c.2349del (p.Lys783fs)
|
rs398124374
|
|
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
|
rs1057520339
|
|
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
|
rs587784086
|
|
NM_022455.5(NSD1):c.2408C>G (p.Pro803Arg)
|
rs1763279245
|
|
NM_022455.5(NSD1):c.243G>C (p.Met81Ile)
|
rs886042530
|
|
NM_022455.5(NSD1):c.2452G>A (p.Asp818Asn)
|
|
|
NM_022455.5(NSD1):c.2494A>T (p.Lys832Ter)
|
rs1562209222
|
|
NM_022455.5(NSD1):c.2503G>A (p.Gly835Ser)
|
rs1197555000
|
|
NM_022455.5(NSD1):c.2528A>T (p.His843Leu)
|
|
|
NM_022455.5(NSD1):c.2581T>C (p.Leu861=)
|
rs1393651252
|
|
NM_022455.5(NSD1):c.2615T>G (p.Leu872Ter)
|
rs1581321573
|
|
NM_022455.5(NSD1):c.2636_2637del (p.Ser879fs)
|
rs1554189720
|
|
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)
|
rs2149845949
|
|
NM_022455.5(NSD1):c.2668T>G (p.Phe890Val)
|
rs1763299227
|
|
NM_022455.5(NSD1):c.2670C>G (p.Phe890Leu)
|
|
|
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)
|
rs1131691754
|
|
NM_022455.5(NSD1):c.2687A>G (p.Gln896Arg)
|
rs1581321959
|
|
NM_022455.5(NSD1):c.2711A>C (p.Asp904Ala)
|
rs398124375
|
|
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs)
|
rs1064794051
|
|
NM_022455.5(NSD1):c.2778G>T (p.Arg926=)
|
|
|
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
|
rs2149846283
|
|
NM_022455.5(NSD1):c.2816C>T (p.Pro939Leu)
|
rs1179994585
|
|
NM_022455.5(NSD1):c.2831G>A (p.Cys944Tyr)
|
|
|
NM_022455.5(NSD1):c.2892_2914dup (p.Thr972fs)
|
rs1554189871
|
|
NM_022455.5(NSD1):c.2915del (p.Thr972fs)
|
rs1554189879
|
|
NM_022455.5(NSD1):c.2947G>A (p.Gly983Ser)
|
rs373280032
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
NM_022455.5(NSD1):c.2996_2997insTTAA (p.Leu999_Ser1000insTer)
|
rs1064793616
|
|
NM_022455.5(NSD1):c.2998del (p.Ser1000fs)
|
rs1581323431
|
|
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs)
|
rs1554189941
|
|
NM_022455.5(NSD1):c.3055C>G (p.Arg1019Gly)
|
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
|
rs587784096
|
|
NM_022455.5(NSD1):c.3110A>G (p.Gln1037Arg)
|
rs794727735
|
|
NM_022455.5(NSD1):c.3171T>C (p.Asn1057=)
|
rs1763344554
|
|
NM_022455.5(NSD1):c.3192T>C (p.Leu1064=)
|
|
|
NM_022455.5(NSD1):c.3193G>T (p.Asp1065Tyr)
|
|
|
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
|
rs587784098
|
|
NM_022455.5(NSD1):c.3224G>A (p.Gly1075Glu)
|
rs1562212091
|
|
NM_022455.5(NSD1):c.3230C>G (p.Ser1077Ter)
|
rs1064793843
|
|
NM_022455.5(NSD1):c.3231_3237delinsTC (p.Leu1078fs)
|
rs2149847729
|
|
NM_022455.5(NSD1):c.3274C>T (p.Gln1092Ter)
|
rs1562212423
|
|
NM_022455.5(NSD1):c.3277A>C (p.Ile1093Leu)
|
|
|
NM_022455.5(NSD1):c.3290T>A (p.Leu1097Ter)
|
rs1562212484
|
|
NM_022455.5(NSD1):c.3323T>C (p.Val1108Ala)
|
rs779656661
|
|
NM_022455.5(NSD1):c.3331G>A (p.Asp1111Asn)
|
|
|
NM_022455.5(NSD1):c.334G>T (p.Val112Phe)
|
rs1756231832
|
|
NM_022455.5(NSD1):c.3358G>C (p.Gly1120Arg)
|
rs1763362171
|
|
NM_022455.5(NSD1):c.3368del (p.Ser1123fs)
|
rs2149848219
|
|
NM_022455.5(NSD1):c.3382dup (p.Ser1128fs)
|
rs886043780
|
|
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe)
|
rs559441081
|
|
NM_022455.5(NSD1):c.3383del (p.Ser1128fs)
|
|
|
NM_022455.5(NSD1):c.3387_3389delinsGG (p.Phe1129fs)
|
rs886039717
|
|
NM_022455.5(NSD1):c.3422T>G (p.Met1141Arg)
|
|
|
NM_022455.5(NSD1):c.3423_3424insCC (p.Asn1142fs)
|
rs1064796081
|
|
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
|
|
|
NM_022455.5(NSD1):c.3457C>T (p.Gln1153Ter)
|
rs1554190269
|
|
NM_022455.5(NSD1):c.3460G>A (p.Val1154Met)
|
rs1001657669
|
|
NM_022455.5(NSD1):c.346T>G (p.Leu116Val)
|
rs1581090282
|
|
NM_022455.5(NSD1):c.3481C>T (p.Gln1161Ter)
|
rs1554190292
|
|
NM_022455.5(NSD1):c.3496del (p.Arg1166fs)
|
rs1763373604
|
|
NM_022455.5(NSD1):c.3541_3544del (p.Glu1181fs)
|
|
|
NM_022455.5(NSD1):c.3546C>G (p.Asn1182Lys)
|
rs1562213440
|
|
NM_022455.5(NSD1):c.3548_3549del (p.Asn1182_Ser1183insTer)
|
rs886039578
|
|
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer)
|
rs878855075
|
|
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)
|
rs797045813
|
|
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile)
|
rs797044760
|
|
NM_022455.5(NSD1):c.3575del (p.Pro1192fs)
|
rs1064796114
|
|
NM_022455.5(NSD1):c.3580_3581insT (p.Asp1194fs)
|
rs1581326628
|
|
NM_022455.5(NSD1):c.3581_3582delinsG (p.Asp1194fs)
|
rs886041512
|
|
NM_022455.5(NSD1):c.3631_3632delinsA (p.Ala1211fs)
|
rs886042047
|
|
NM_022455.5(NSD1):c.3637A>G (p.Ile1213Val)
|
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)
|
|
|
NM_022455.5(NSD1):c.3671C>G (p.Ala1224Gly)
|
|
|
NM_022455.5(NSD1):c.3706G>A (p.Val1236Ile)
|
|
|
NM_022455.5(NSD1):c.3758T>C (p.Ile1253Thr)
|
|
|
NM_022455.5(NSD1):c.3760C>A (p.Pro1254Thr)
|
rs1035426339
|
|
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=)
|
rs794727734
|
|
NM_022455.5(NSD1):c.3796+282_3796+295del
|
rs758221753
|
|
NM_022455.5(NSD1):c.3796+282_3796+296del
|
rs369449613
|
|
NM_022455.5(NSD1):c.3796+305_3796+306dup
|
rs34930823
|
|
NM_022455.5(NSD1):c.3796+306del
|
rs34930823
|
|
NM_022455.5(NSD1):c.3796+306dup
|
rs34930823
|
|
NM_022455.5(NSD1):c.3796+34dup
|
rs35159794
|
|
NM_022455.5(NSD1):c.3796G>A (p.Ala1266Thr)
|
rs2149849787
|
|
NM_022455.5(NSD1):c.3797-9_3797-7del
|
|
|
NM_022455.5(NSD1):c.3818_3819del (p.Arg1273fs)
|
|
|
NM_022455.5(NSD1):c.3833G>A (p.Ser1278Asn)
|
rs1765400132
|
|
NM_022455.5(NSD1):c.3870G>T (p.Gln1290His)
|
|
|
NM_022455.5(NSD1):c.3874T>A (p.Phe1292Ile)
|
|
|
NM_022455.5(NSD1):c.3894_3896del (p.Lys1300del)
|
rs2149884022
|
|
NM_022455.5(NSD1):c.3922-157del
|
rs34640392
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
|
rs587784107
|
|
NM_022455.5(NSD1):c.3975T>C (p.Ala1325=)
|
|
|
NM_022455.5(NSD1):c.398A>G (p.Asn133Ser)
|
|
|
NM_022455.5(NSD1):c.3997A>G (p.Asn1333Asp)
|
|
|
NM_022455.5(NSD1):c.39G>C (p.Leu13=)
|
rs1581089158
|
|
NM_022455.5(NSD1):c.4020A>G (p.Glu1340=)
|
rs2149887388
|
|
NM_022455.5(NSD1):c.4058_4061del (p.Glu1353fs)
|
rs1554195857
|
|
NM_022455.5(NSD1):c.4188G>T (p.Thr1396=)
|
rs148112060
|
|
NM_022455.5(NSD1):c.4192+1G>A
|
rs2149887853
|
|
NM_022455.5(NSD1):c.4193-8C>T
|
|
|
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs)
|
rs794727930
|
|
NM_022455.5(NSD1):c.4242del (p.Glu1414fs)
|
|
|
NM_022455.5(NSD1):c.4301del (p.Lys1434fs)
|
rs587784112
|
|
NM_022455.5(NSD1):c.4302+341_4302+342del
|
rs142778014
|
|
NM_022455.5(NSD1):c.4303-1G>C
|
rs1766101931
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022455.5(NSD1):c.4378+5G>A
|
|
|
NM_022455.5(NSD1):c.4378+5G>C
|
rs1064793218
|
|
NM_022455.5(NSD1):c.438C>G (p.Ile146Met)
|
rs1240259079
|
|
NM_022455.5(NSD1):c.4403C>T (p.Pro1468Leu)
|
|
|
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)
|
rs570278338
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
NM_022455.5(NSD1):c.4431T>C (p.Ala1477=)
|
|
|
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=)
|
rs150920473
|
|
NM_022455.5(NSD1):c.4484T>G (p.Ile1495Ser)
|
rs1554197510
|
|
NM_022455.5(NSD1):c.4498-10del
|
rs200890017
|
|
NM_022455.5(NSD1):c.4501G>A (p.Glu1501Lys)
|
|
|
NM_022455.5(NSD1):c.4521G>A (p.Thr1507=)
|
rs778642917
|
|
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp)
|
rs1766450095
|
|
NM_022455.5(NSD1):c.4531C>A (p.Pro1511Thr)
|
|
|
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn)
|
rs201483724
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
NM_022455.5(NSD1):c.4606G>A (p.Gly1536Ser)
|
rs1766459877
|
|
NM_022455.5(NSD1):c.4607G>T (p.Gly1536Val)
|
rs1562255664
|
|
NM_022455.5(NSD1):c.4636_4639del (p.Cys1546fs)
|
rs1554197794
|
|
NM_022455.5(NSD1):c.4641+206G>C
|
rs10056245
|
|
NM_022455.5(NSD1):c.4658del (p.Gly1553fs)
|
rs886041615
|
|
NM_022455.5(NSD1):c.4691G>A (p.Gly1564Glu)
|
|
|
NM_022455.5(NSD1):c.4701C>A (p.His1567Gln)
|
rs2149904507
|
|
NM_022455.5(NSD1):c.4748G>T (p.Cys1583Phe)
|
rs2149904611
|
|
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter)
|
rs587784126
|
|
NM_022455.5(NSD1):c.4759C>T (p.Arg1587Cys)
|
rs764613088
|
|
NM_022455.5(NSD1):c.4765+1G>A
|
rs1057520671
|
|
NM_022455.5(NSD1):c.4765+4A>G
|
rs1554198443
|
|
NM_022455.5(NSD1):c.4783G>C (p.Val1595Leu)
|
|
|
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser)
|
rs1554199383
|
|
NM_022455.5(NSD1):c.4801del (p.Glu1601fs)
|
rs1064793336
|
|
NM_022455.5(NSD1):c.4804G>A (p.Asp1602Asn)
|
rs727504055
|
|
NM_022455.5(NSD1):c.4819_4820dup (p.Leu1608fs)
|
rs1554199392
|
|
NM_022455.5(NSD1):c.4825delinsGA (p.Pro1609fs)
|
rs1057518184
|
|
NM_022455.5(NSD1):c.4826C>T (p.Pro1609Leu)
|
rs2149912363
|
|
NM_022455.5(NSD1):c.4844A>G (p.Tyr1615Cys)
|
rs398124378
|
|
NM_022455.5(NSD1):c.4890C>G (p.Asn1630Lys)
|
rs2149912553
|
|
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr)
|
rs1064796568
|
|
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
|
|
|
NM_022455.5(NSD1):c.4918T>A (p.Cys1640Ser)
|
rs878853111
|
|
NM_022455.5(NSD1):c.4944A>T (p.Pro1648=)
|
|
|
NM_022455.5(NSD1):c.4966+76_4966+77insTTTT
|
rs1343529552
|
|
NM_022455.5(NSD1):c.4966+93_4966+96dup
|
rs373383515
|
|
NM_022455.5(NSD1):c.4966+96del
|
rs373383515
|
|
NM_022455.5(NSD1):c.4966+96dup
|
rs373383515
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
NM_022455.5(NSD1):c.5020del (p.Cys1674fs)
|
rs1581468355
|
|
NM_022455.5(NSD1):c.5021G>C (p.Cys1674Ser)
|
rs587784135
|
|
NM_022455.5(NSD1):c.5036C>G (p.Ser1679Ter)
|
rs1064796184
|
|
NM_022455.5(NSD1):c.5046T>G (p.Leu1682=)
|
|
|
NM_022455.5(NSD1):c.5059ATC[1] (p.Ile1688del)
|
rs1554200200
|
|
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
|
rs587784137
|
|
NM_022455.5(NSD1):c.5103T>C (p.Asn1701=)
|
rs756895271
|
|
NM_022455.5(NSD1):c.5110dup (p.His1704fs)
|
rs1554200214
|
|
NM_022455.5(NSD1):c.5129G>T (p.Cys1710Phe)
|
rs1057518133
|
|
NM_022455.5(NSD1):c.5150G>A (p.Gly1717Asp)
|
rs2149930984
|
|
NM_022455.5(NSD1):c.5182G>C (p.Ala1728Pro)
|
rs1057520710
|
|
NM_022455.5(NSD1):c.5201T>C (p.Leu1734Pro)
|
|
|
NM_022455.5(NSD1):c.5229G>A (p.Trp1743Ter)
|
rs1554201740
|
|
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)
|
rs1581491984
|
|
NM_022455.5(NSD1):c.5303+113T>G
|
rs10071723
|
|
NM_022455.5(NSD1):c.5303+252del
|
rs35703730
|
|
NM_022455.5(NSD1):c.5303+35A>C
|
rs372649300
|
|
NM_022455.5(NSD1):c.5510-147G>A
|
rs59992310
|
|
NM_022455.5(NSD1):c.5521G>C (p.Ala1841Pro)
|
rs1064795720
|
|
NM_022455.5(NSD1):c.5552A>C (p.Gln1851Pro)
|
rs2127241876
|
|
NM_022455.5(NSD1):c.5565A>T (p.Arg1855Ser)
|
rs2127241925
|
|
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)
|
rs886041218
|
|
NM_022455.5(NSD1):c.5609A>G (p.Tyr1870Cys)
|
rs1057521142
|
|
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
|
rs587784152
|
|
NM_022455.5(NSD1):c.5651T>A (p.Ile1884Asn)
|
|
|
NM_022455.5(NSD1):c.5683T>C (p.Cys1895Arg)
|
rs1554204102
|
|
NM_022455.5(NSD1):c.5699del (p.Thr1900fs)
|
rs1064793705
|
|
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser)
|
rs1554204110
|
|
NM_022455.5(NSD1):c.5721dup (p.Asp1908fs)
|
rs1581527566
|
|
NM_022455.5(NSD1):c.5725T>C (p.Ser1909Pro)
|
|
|
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)
|
rs587784155
|
|
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu)
|
rs587784155
|
|
NM_022455.5(NSD1):c.5768_5769del (p.Thr1923fs)
|
rs1758801009
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His)
|
rs1391504793
|
|
NM_022455.5(NSD1):c.5815C>T (p.Arg1939Cys)
|
rs1064796690
|
|
NM_022455.5(NSD1):c.5816G>T (p.Arg1939Leu)
|
|
|
NM_022455.5(NSD1):c.5827G>A (p.Glu1943Lys)
|
rs2127257497
|
|
NM_022455.5(NSD1):c.5836A>G (p.Ile1946Val)
|
|
|
NM_022455.5(NSD1):c.5842C>T (p.Arg1948Cys)
|
rs886041941
|
|
NM_022455.5(NSD1):c.5851C>T (p.Gln1951Ter)
|
rs1554204165
|
|
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)
|
rs886041219
|
|
NM_022455.5(NSD1):c.5855G>A (p.Arg1952Gln)
|
rs2127257571
|
|
NM_022455.5(NSD1):c.585T>C (p.Tyr195=)
|
|
|
NM_022455.5(NSD1):c.5862G>A (p.Trp1954Ter)
|
rs587784160
|
|
NM_022455.5(NSD1):c.5878A>G (p.Thr1960Ala)
|
|
|
NM_022455.5(NSD1):c.5890A>G (p.Lys1964Glu)
|
rs2127257672
|
|
NM_022455.5(NSD1):c.5892+1G>T
|
rs886039579
|
|
NM_022455.5(NSD1):c.5892+1del
|
rs1064793361
|
|
NM_022455.5(NSD1):c.5892+7A>T
|
rs769311050
|
|
NM_022455.5(NSD1):c.5898_5899insG (p.Phe1967fs)
|
rs1554204587
|
|
NM_022455.5(NSD1):c.5903T>C (p.Val1968Ala)
|
rs1064795059
|
|
NM_022455.5(NSD1):c.5910G>C (p.Glu1970Asp)
|
rs1554204594
|
|
NM_022455.5(NSD1):c.5943del (p.Glu1980_Cys1981insTer)
|
rs886041734
|
|
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)
|
rs797045057
|
|
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)
|
rs587784169
|
|
NM_022455.5(NSD1):c.5951G>C (p.Arg1984Pro)
|
rs587784169
|
|
NM_022455.5(NSD1):c.5960A>G (p.Tyr1987Cys)
|
|
|
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His)
|
rs587784171
|
|
NM_022455.5(NSD1):c.5996T>C (p.Leu1999Pro)
|
rs1085307903
|
|
NM_022455.5(NSD1):c.6009+1G>T
|
rs1554204648
|
|
NM_022455.5(NSD1):c.6010-11T>A
|
rs1554204909
|
|
NM_022455.5(NSD1):c.6010-14_6016delinsC
|
rs1554204905
|
|
NM_022455.5(NSD1):c.6010-1G>A
|
rs1057520620
|
|
NM_022455.5(NSD1):c.6010-241C>G
|
rs28395268
|
|
NM_022455.5(NSD1):c.6010-241C>T
|
rs28395268
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)
|
rs587784174
|
|
NM_022455.5(NSD1):c.6029G>A (p.Gly2010Asp)
|
rs1064795588
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6058A>T (p.Asn2020Tyr)
|
rs1057518052
|
|
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser)
|
rs587784178
|
|
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter)
|
rs587784179
|
|
NM_022455.5(NSD1):c.6123C>G (p.Gly2041=)
|
rs1320561007
|
|
NM_022455.5(NSD1):c.6151+1G>A
|
rs1562296511
|
|
NM_022455.5(NSD1):c.6151+287A>G
|
rs115142140
|
|
NM_022455.5(NSD1):c.6152-14G>A
|
rs587784182
|
|
NM_022455.5(NSD1):c.6152-1G>A
|
rs886044326
|
|
NM_022455.5(NSD1):c.6152-5T>C
|
rs755758018
|
|
NM_022455.5(NSD1):c.6158A>C (p.Glu2053Ala)
|
rs1131691321
|
|
NM_022455.5(NSD1):c.6170A>G (p.Asn2057Ser)
|
rs1554205939
|
|
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)
|
rs398124380
|
|
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met)
|
rs1759549616
|
|
NM_022455.5(NSD1):c.622G>A (p.Gly208Arg)
|
rs1581091469
|
|
NM_022455.5(NSD1):c.626G>A (p.Ser209Asn)
|
rs2149756502
|
|
NM_022455.5(NSD1):c.6289A>G (p.Lys2097Glu)
|
rs1057518286
|
|
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs)
|
rs2127276046
|
|
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)
|
rs587784188
|
|
NM_022455.5(NSD1):c.6314G>A (p.Gly2105Glu)
|
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
NM_022455.5(NSD1):c.6385C>G (p.Gln2129Glu)
|
rs1562305721
|
|
NM_022455.5(NSD1):c.6412T>C (p.Cys2138Arg)
|
rs1064795734
|
|
NM_022455.5(NSD1):c.6421del (p.Val2141fs)
|
rs587784197
|
|
NM_022455.5(NSD1):c.6425A>C (p.Tyr2142Ser)
|
rs1057518051
|
|
NM_022455.5(NSD1):c.642A>C (p.Thr214=)
|
|
|
NM_022455.5(NSD1):c.6430G>A (p.Ala2144Thr)
|
rs761103348
|
|
NM_022455.5(NSD1):c.6440dup (p.Asn2148fs)
|
rs886042725
|
|
NM_022455.5(NSD1):c.6443A>G (p.Asn2148Ser)
|
rs2127276605
|
|
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter)
|
rs587784199
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022455.5(NSD1):c.6463+1G>A
|
rs398124381
|
|
NM_022455.5(NSD1):c.6463+5G>C
|
rs1057518175
|
|
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg)
|
rs1554206845
|
|
NM_022455.5(NSD1):c.6464-290dup
|
rs149890561
|
|
NM_022455.5(NSD1):c.6464-298G>C
|
rs1386367711
|
|
NM_022455.5(NSD1):c.6464-8_6464-5delinsTTTC
|
rs1554207223
|
|
NM_022455.5(NSD1):c.6471G>A (p.Trp2157Ter)
|
|
|
NM_022455.5(NSD1):c.6479C>T (p.Pro2160Leu)
|
|
|
NM_022455.5(NSD1):c.6488del (p.Gln2163fs)
|
rs2127279186
|
|
NM_022455.5(NSD1):c.6492dup (p.Asp2165Ter)
|
rs1554207244
|
|
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer)
|
rs1562098870
|
|
NM_022455.5(NSD1):c.6513A>C (p.Ala2171=)
|
rs1581562928
|
|
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del)
|
rs587784206
|
|
NM_022455.5(NSD1):c.6524G>T (p.Cys2175Phe)
|
rs1581562963
|
|
NM_022455.5(NSD1):c.6533G>A (p.Cys2178Tyr)
|
rs398124382
|
|
NM_022455.5(NSD1):c.6538_6539insC (p.Ser2180fs)
|
rs398124383
|
|
NM_022455.5(NSD1):c.6547T>A (p.Cys2183Ser)
|
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
NM_022455.5(NSD1):c.658G>T (p.Gly220Cys)
|
rs755449099
|
|
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr)
|
rs121908071
|
|
NM_022455.5(NSD1):c.6614A>C (p.His2205Pro)
|
rs2127279532
|
|
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
|
|
|
NM_022455.5(NSD1):c.662C>T (p.Ala221Val)
|
rs1057524420
|
|
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys)
|
rs587784213
|
|
NM_022455.5(NSD1):c.6643_6644delinsGAT (p.Pro2215fs)
|
rs1554207344
|
|
NM_022455.5(NSD1):c.6655C>T (p.Arg2219Cys)
|
rs2127279650
|
|
NM_022455.5(NSD1):c.6767C>G (p.Ala2256Gly)
|
rs2127280001
|
|
NM_022455.5(NSD1):c.6818G>C (p.Cys2273Ser)
|
|
|
NM_022455.5(NSD1):c.6824G>A (p.Arg2275Lys)
|
|
|
NM_022455.5(NSD1):c.6899del (p.Ala2300fs)
|
rs1581564208
|
|
NM_022455.5(NSD1):c.6965dup (p.Ala2323fs)
|
rs1057517998
|
|
NM_022455.5(NSD1):c.6967G>T (p.Ala2323Ser)
|
|
|
NM_022455.5(NSD1):c.7033G>T (p.Val2345Phe)
|
rs398124384
|
|
NM_022455.5(NSD1):c.7046C>G (p.Pro2349Arg)
|
|
|
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)
|
rs765876148
|
|
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala)
|
rs1416255762
|
|
NM_022455.5(NSD1):c.7219A>G (p.Thr2407Ala)
|
rs1057524329
|
|
NM_022455.5(NSD1):c.7234G>T (p.Ala2412Ser)
|
|
|
NM_022455.5(NSD1):c.7259C>T (p.Pro2420Leu)
|
rs1271164466
|
|
NM_022455.5(NSD1):c.736G>T (p.Gly246Cys)
|
rs1156510513
|
|
NM_022455.5(NSD1):c.7419T>G (p.His2473Gln)
|
|
|
NM_022455.5(NSD1):c.7433A>G (p.Gln2478Arg)
|
|
|
NM_022455.5(NSD1):c.7502C>T (p.Pro2501Leu)
|
rs950485640
|
|
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del)
|
rs398124385
|
|
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile)
|
rs1005975383
|
|
NM_022455.5(NSD1):c.7511T>C (p.Val2504Ala)
|
rs2127283325
|
|
NM_022455.5(NSD1):c.7523G>A (p.Cys2508Tyr)
|
rs11542768
|
|
NM_022455.5(NSD1):c.7525G>T (p.Val2509Leu)
|
|
|
NM_022455.5(NSD1):c.7573G>C (p.Asp2525His)
|
|
|
NM_022455.5(NSD1):c.7604A>G (p.Gln2535Arg)
|
rs2127283711
|
|
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=)
|
rs886042468
|
|
NM_022455.5(NSD1):c.7765C>T (p.Leu2589=)
|
|
|
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=)
|
rs769301382
|
|
NM_022455.5(NSD1):c.7892C>G (p.Ser2631Ter)
|
rs758339424
|
|
NM_022455.5(NSD1):c.7949_7950delinsTT (p.Trp2650Phe)
|
rs2127285025
|
|
NM_022455.5(NSD1):c.8032C>G (p.Leu2678Val)
|
rs2127285369
|
|
NM_022455.5(NSD1):c.8034del (p.Pro2679fs)
|
rs1064794033
|
|
NM_022455.5(NSD1):c.804A>G (p.Glu268=)
|
rs766770297
|
|
NM_022455.5(NSD1):c.805G>A (p.Glu269Lys)
|
rs751787444
|
|
NM_022455.5(NSD1):c.8075_8076insTT (p.Glu2692fs)
|
rs2127285539
|
|
NM_022455.5(NSD1):c.817T>C (p.Ser273Pro)
|
|
|
NM_022455.5(NSD1):c.858del (p.Ser287fs)
|
rs2149757050
|
|
NM_022455.5(NSD1):c.872A>G (p.Asn291Ser)
|
|
|
NM_022455.5(NSD1):c.887C>A (p.Pro296His)
|
|
|
NM_022455.5(NSD1):c.911C>A (p.Ser304Ter)
|
rs2149757179
|
|
NM_022455.5(NSD1):c.91C>G (p.Pro31Ala)
|
rs905320202
|
|
NM_022455.5(NSD1):c.927+3A>T
|
|
|
NM_022455.5(NSD1):c.927+5G>A
|
rs2149757213
|
|
NM_022455.5(NSD1):c.936T>G (p.Pro312=)
|
rs1581254248
|
|
NM_022455.5(NSD1):c.985G>A (p.Ala329Thr)
|
rs1761726567
|
|
Single allele
|
|
|