|
NM_022455.5(NSD1):c.3796+108C>G
|
rs6556305
|
0.91525
|
|
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074
|
0.84910
|
|
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.1515T>C (p.Asn505=)
|
rs114747882
|
0.00694
|
|
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.339C>T (p.Cys113=)
|
rs77093936
|
0.00108
|
|
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.3796+22A>T
|
rs111663030
|
0.00071
|
|
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.4473G>T (p.Ser1491=)
|
rs150920473
|
0.00054
|
|
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.*3098dup
|
rs145155077
|
0.00042
|
|
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.4966+43G>A
|
rs184344717
|
0.00036
|
|
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr)
|
rs138641637
|
0.00035
|
|
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser)
|
rs148839758
|
0.00034
|
|
NM_022455.5(NSD1):c.2601C>A (p.Leu867=)
|
rs368078696
|
0.00032
|
|
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.6463+8C>A
|
rs147592452
|
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.-8G>A
|
rs199639292
|
0.00016
|
|
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)
|
rs61756006
|
0.00016
|
|
NM_022455.5(NSD1):c.3221G>A (p.Arg1074His)
|
rs766901249
|
0.00016
|
|
NM_022455.5(NSD1):c.7421A>C (p.Gln2474Pro)
|
rs202220730
|
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.816C>A (p.Asn272Lys)
|
rs144524958
|
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.5623-4C>T
|
rs545197514
|
0.00012
|
|
NM_022455.5(NSD1):c.6276G>A (p.Thr2092=)
|
rs138041618
|
0.00012
|
|
NM_022455.5(NSD1):c.786C>T (p.Asp262=)
|
rs370328602
|
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.436A>G (p.Ile146Val)
|
rs745885259
|
0.00011
|
|
NM_022455.5(NSD1):c.1317C>T (p.Asn439=)
|
rs150421873
|
0.00010
|
|
NM_022455.5(NSD1):c.3133C>T (p.Arg1045Cys)
|
rs377148087
|
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.8022G>A (p.Glu2674=)
|
rs149632999
|
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.3271C>A (p.Leu1091Ile)
|
rs35597015
|
0.00009
|
|
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)
|
rs747298351
|
0.00009
|
|
NM_022455.5(NSD1):c.4665G>A (p.Leu1555=)
|
rs779537845
|
0.00009
|
|
NM_022455.5(NSD1):c.6429C>T (p.His2143=)
|
rs121908068
|
0.00009
|
|
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=)
|
rs148585227
|
0.00009
|
|
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=)
|
rs139879749
|
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.7350T>C (p.Asn2450=)
|
rs200241618
|
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.142A>G (p.Met48Val)
|
rs200735877
|
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.340A>G (p.Thr114Ala)
|
rs749444972
|
0.00007
|
|
NM_022455.5(NSD1):c.4765+15G>A
|
rs766201833
|
0.00007
|
|
NM_022455.5(NSD1):c.113A>G (p.Asn38Ser)
|
rs368524494
|
0.00006
|
|
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.395G>C (p.Cys132Ser)
|
rs28932174
|
0.00006
|
|
NM_022455.5(NSD1):c.4379-5C>T
|
rs763154004
|
0.00006
|
|
NM_022455.5(NSD1):c.4642-7T>C
|
rs183928380
|
0.00006
|
|
NM_022455.5(NSD1):c.5010C>T (p.Ala1670=)
|
rs1351246894
|
0.00006
|
|
NM_022455.5(NSD1):c.6258+47C>G
|
rs187713824
|
0.00006
|
|
NM_022455.5(NSD1):c.684A>G (p.Pro228=)
|
rs1057522319
|
0.00006
|
|
NM_022455.5(NSD1):c.7160C>T (p.Pro2387Leu)
|
rs766700264
|
0.00006
|
|
NM_022455.5(NSD1):c.7414C>T (p.Pro2472Ser)
|
rs143159061
|
0.00006
|
|
NM_022455.5(NSD1):c.*1014dup
|
rs886060448
|
0.00005
|
|
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.3068G>A (p.Arg1023Gln)
|
rs756022347
|
0.00005
|
|
NM_022455.5(NSD1):c.3741G>A (p.Met1247Ile)
|
rs760307871
|
0.00005
|
|
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln)
|
rs368706736
|
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.7196A>C (p.Lys2399Thr)
|
rs755585241
|
0.00005
|
|
NM_022455.5(NSD1):c.7251A>T (p.Arg2417Ser)
|
rs776952596
|
0.00005
|
|
NM_022455.5(NSD1):c.1605A>G (p.Leu535=)
|
rs746977419
|
0.00004
|
|
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.2586C>T (p.Ser862=)
|
rs752997132
|
0.00004
|
|
NM_022455.5(NSD1):c.2766G>A (p.Thr922=)
|
rs369705297
|
0.00004
|
|
NM_022455.5(NSD1):c.3092G>A (p.Arg1031Gln)
|
rs780306768
|
0.00004
|
|
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp)
|
rs770541943
|
0.00004
|
|
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)
|
rs188847458
|
0.00004
|
|
NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys)
|
rs775044010
|
0.00004
|
|
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)
|
rs758125212
|
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.6259-20G>A
|
rs369478260
|
0.00004
|
|
NM_022455.5(NSD1):c.7049T>C (p.Leu2350Pro)
|
rs750785772
|
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.7403G>A (p.Arg2468Gln)
|
rs587784217
|
0.00004
|
|
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile)
|
rs373787813
|
0.00004
|
|
NM_022455.5(NSD1):c.*4596del
|
rs886060459
|
0.00003
|
|
NM_022455.5(NSD1):c.1224A>G (p.Gly408=)
|
rs587784069
|
0.00003
|
|
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.3154C>T (p.Arg1052Cys)
|
rs748956033
|
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.3649C>T (p.Pro1217Ser)
|
rs372004424
|
0.00003
|
|
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln)
|
rs774868314
|
0.00003
|
|
NM_022455.5(NSD1):c.3764G>A (p.Ser1255Asn)
|
rs1389749444
|
0.00003
|
|
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)
|
rs141911573
|
0.00003
|
|
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)
|
rs147235302
|
0.00003
|
|
NM_022455.5(NSD1):c.454C>T (p.His152Tyr)
|
rs765845162
|
0.00003
|
|
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile)
|
rs774169673
|
0.00003
|
|
NM_022455.5(NSD1):c.5106T>C (p.His1702=)
|
rs778450121
|
0.00003
|
|
NM_022455.5(NSD1):c.5532G>A (p.Arg1844=)
|
rs201357386
|
0.00003
|
|
NM_022455.5(NSD1):c.5934A>G (p.Glu1978=)
|
rs747791387
|
0.00003
|
|
NM_022455.5(NSD1):c.5967A>G (p.Gln1989=)
|
rs544317310
|
0.00003
|
|
NM_022455.5(NSD1):c.6001C>T (p.Leu2001=)
|
rs587784172
|
0.00003
|
|
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=)
|
rs745760201
|
0.00003
|
|
NM_022455.5(NSD1):c.6468A>G (p.Lys2156=)
|
rs752628095
|
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.6845C>G (p.Pro2282Arg)
|
rs539453877
|
0.00003
|
|
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu)
|
rs201609442
|
0.00003
|
|
NM_022455.5(NSD1):c.7161G>A (p.Pro2387=)
|
rs369778799
|
0.00003
|
|
NM_022455.5(NSD1):c.7452A>G (p.Pro2484=)
|
rs146676933
|
0.00003
|
|
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile)
|
rs770120153
|
0.00003
|
|
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)
|
rs575229932
|
0.00003
|
|
NM_022455.5(NSD1):c.767C>T (p.Ala256Val)
|
rs558302421
|
0.00003
|
|
NM_022455.5(NSD1):c.1176C>T (p.Phe392=)
|
rs763543904
|
0.00002
|
|
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr)
|
rs587784075
|
0.00002
|
|
NM_022455.5(NSD1):c.1500A>G (p.Arg500=)
|
rs1469000222
|
0.00002
|
|
NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly)
|
rs1046371505
|
0.00002
|
|
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu)
|
rs780179136
|
0.00002
|
|
NM_022455.5(NSD1):c.198A>G (p.Pro66=)
|
rs1057523994
|
0.00002
|
|
NM_022455.5(NSD1):c.1992A>G (p.Glu664=)
|
rs770274186
|
0.00002
|
|
NM_022455.5(NSD1):c.209T>G (p.Ile70Ser)
|
rs760029045
|
0.00002
|
|
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys)
|
rs771456995
|
0.00002
|
|
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met)
|
rs774810620
|
0.00002
|
|
NM_022455.5(NSD1):c.222A>G (p.Arg74=)
|
rs201780407
|
0.00002
|
|
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu)
|
rs773591859
|
0.00002
|
|
NM_022455.5(NSD1):c.241A>G (p.Met81Val)
|
rs763781326
|
0.00002
|
|
NM_022455.5(NSD1):c.2991C>T (p.Gly997=)
|
rs751017119
|
0.00002
|
|
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)
|
rs1406037834
|
0.00002
|
|
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr)
|
rs202208033
|
0.00002
|
|
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln)
|
rs753389957
|
0.00002
|
|
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp)
|
rs771467409
|
0.00002
|
|
NM_022455.5(NSD1):c.5031T>C (p.Ala1677=)
|
rs766572224
|
0.00002
|
|
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=)
|
rs587784136
|
0.00002
|
|
NM_022455.5(NSD1):c.5147-20A>C
|
rs1239151310
|
0.00002
|
|
NM_022455.5(NSD1):c.5510-10G>A
|
rs767198805
|
0.00002
|
|
NM_022455.5(NSD1):c.5892+26A>G
|
rs760933594
|
0.00002
|
|
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)
|
rs776592297
|
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.7696A>G (p.Thr2566Ala)
|
rs778841211
|
0.00002
|
|
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)
|
rs147033795
|
0.00002
|
|
NM_022455.5(NSD1):c.8014A>G (p.Lys2672Glu)
|
rs370095667
|
0.00002
|
|
NM_022455.5(NSD1):c.8025A>G (p.Gln2675=)
|
rs199895437
|
0.00002
|
|
NM_022455.5(NSD1):c.1035G>A (p.Pro345=)
|
rs776701573
|
0.00001
|
|
NM_022455.5(NSD1):c.1063+10dup
|
rs762416925
|
0.00001
|
|
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln)
|
rs769733603
|
0.00001
|
|
NM_022455.5(NSD1):c.108A>G (p.Gln36=)
|
rs549091873
|
0.00001
|
|
NM_022455.5(NSD1):c.1173A>G (p.Gln391=)
|
rs146581653
|
0.00001
|
|
NM_022455.5(NSD1):c.1230G>A (p.Arg410=)
|
rs1312457601
|
0.00001
|
|
NM_022455.5(NSD1):c.1237-10T>C
|
rs587784070
|
0.00001
|
|
NM_022455.5(NSD1):c.1252T>C (p.Leu418=)
|
rs201329783
|
0.00001
|
|
NM_022455.5(NSD1):c.1290G>A (p.Gln430=)
|
rs535674820
|
0.00001
|
|
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys)
|
rs587784074
|
0.00001
|
|
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp)
|
rs1215568879
|
0.00001
|
|
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg)
|
rs1488271424
|
0.00001
|
|
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.1842G>A (p.Val614=)
|
rs761181063
|
0.00001
|
|
NM_022455.5(NSD1):c.1882G>A (p.Asp628Asn)
|
rs1763231304
|
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.19C>A (p.Leu7Ile)
|
rs368345846
|
0.00001
|
|
NM_022455.5(NSD1):c.2007C>T (p.Phe669=)
|
rs530934556
|
0.00001
|
|
NM_022455.5(NSD1):c.2029T>C (p.Ser677Pro)
|
rs1265388422
|
0.00001
|
|
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys)
|
rs766184697
|
0.00001
|
|
NM_022455.5(NSD1):c.2103G>A (p.Lys701=)
|
rs727504053
|
0.00001
|
|
NM_022455.5(NSD1):c.2153G>A (p.Ser718Asn)
|
rs781142476
|
0.00001
|
|
NM_022455.5(NSD1):c.2242A>G (p.Asn748Asp)
|
rs587784083
|
0.00001
|
|
NM_022455.5(NSD1):c.2331A>C (p.Leu777=)
|
rs772447375
|
0.00001
|
|
NM_022455.5(NSD1):c.2340G>A (p.Ser780=)
|
rs766703389
|
0.00001
|
|
NM_022455.5(NSD1):c.2345G>A (p.Ser782Asn)
|
rs769773081
|
0.00001
|
|
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln)
|
rs751258086
|
0.00001
|
|
NM_022455.5(NSD1):c.2475C>T (p.Ala825=)
|
rs781498491
|
0.00001
|
|
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg)
|
rs1442977122
|
0.00001
|
|
NM_022455.5(NSD1):c.2748T>G (p.Asp916Glu)
|
rs1268847680
|
0.00001
|
|
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp)
|
rs780991637
|
0.00001
|
|
NM_022455.5(NSD1):c.2925C>T (p.Ser975=)
|
rs587784090
|
0.00001
|
|
NM_022455.5(NSD1):c.293A>T (p.Gln98Leu)
|
rs779850742
|
0.00001
|
|
NM_022455.5(NSD1):c.2944G>C (p.Gly982Arg)
|
rs587784091
|
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.3201A>G (p.Val1067=)
|
rs771361976
|
0.00001
|
|
NM_022455.5(NSD1):c.331A>G (p.Ile111Val)
|
rs1201715787
|
0.00001
|
|
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn)
|
rs1348023231
|
0.00001
|
|
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala)
|
rs727504054
|
0.00001
|
|
NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu)
|
rs1021852466
|
0.00001
|
|
NM_022455.5(NSD1):c.3426C>T (p.Asn1142=)
|
rs1182714953
|
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.352C>G (p.Pro118Ala)
|
rs587784102
|
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.3770C>T (p.Thr1257Ile)
|
rs1249385869
|
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.3921+9C>T
|
rs192246663
|
0.00001
|
|
NM_022455.5(NSD1):c.3931C>T (p.Arg1311Cys)
|
rs886060443
|
0.00001
|
|
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln)
|
rs1388537733
|
0.00001
|
|
NM_022455.5(NSD1):c.4074G>A (p.Gln1358=)
|
rs777941389
|
0.00001
|
|
NM_022455.5(NSD1):c.4081C>G (p.Leu1361Val)
|
rs748973344
|
0.00001
|
|
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp)
|
rs1765619618
|
0.00001
|
|
NM_022455.5(NSD1):c.4193-10T>C
|
rs774927461
|
0.00001
|
|
NM_022455.5(NSD1):c.4282G>A (p.Asp1428Asn)
|
rs757591029
|
0.00001
|
|
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=)
|
rs1251583221
|
0.00001
|
|
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly)
|
rs570278338
|
0.00001
|
|
NM_022455.5(NSD1):c.4436C>T (p.Ala1479Val)
|
rs1766327804
|
0.00001
|
|
NM_022455.5(NSD1):c.4487C>T (p.Pro1496Leu)
|
rs1766333203
|
0.00001
|
|
NM_022455.5(NSD1):c.4551A>G (p.Glu1517=)
|
rs377275787
|
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.4966+15T>C
|
rs587784130
|
0.00001
|
|
NM_022455.5(NSD1):c.5067C>T (p.Cys1689=)
|
rs1313604020
|
0.00001
|
|
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser)
|
rs746925986
|
0.00001
|
|
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=)
|
rs1581507735
|
0.00001
|
|
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)
|
rs587784154
|
0.00001
|
|
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His)
|
rs746726463
|
0.00001
|
|
NM_022455.5(NSD1):c.5892+6A>G
|
rs1231700818
|
0.00001
|
|
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)
|
rs587784175
|
0.00001
|
|
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His)
|
rs1401142770
|
0.00001
|
|
NM_022455.5(NSD1):c.6387G>A (p.Gln2129=)
|
rs998492947
|
0.00001
|
|
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=)
|
rs771993179
|
0.00001
|
|
NM_022455.5(NSD1):c.6480G>A (p.Pro2160=)
|
rs587784203
|
0.00001
|
|
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile)
|
rs1240149522
|
0.00001
|
|
NM_022455.5(NSD1):c.6667C>T (p.Pro2223Ser)
|
rs1760070315
|
0.00001
|
|
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala)
|
rs1418961998
|
0.00001
|
|
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu)
|
rs748597598
|
0.00001
|
|
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro)
|
rs770174512
|
0.00001
|
|
NM_022455.5(NSD1):c.7072G>C (p.Asp2358His)
|
rs144023511
|
0.00001
|
|
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu)
|
rs769699822
|
0.00001
|
|
NM_022455.5(NSD1):c.7137A>G (p.Ser2379=)
|
rs762447935
|
0.00001
|
|
NM_022455.5(NSD1):c.7152G>C (p.Leu2384=)
|
rs758847471
|
0.00001
|
|
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg)
|
rs921266576
|
0.00001
|
|
NM_022455.5(NSD1):c.7379A>G (p.Asp2460Gly)
|
rs1406542990
|
0.00001
|
|
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His)
|
rs587784216
|
0.00001
|
|
NM_022455.5(NSD1):c.7402C>T (p.Arg2468Trp)
|
rs767815479
|
0.00001
|
|
NM_022455.5(NSD1):c.7487G>T (p.Gly2496Val)
|
rs556993869
|
0.00001
|
|
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro)
|
rs750441093
|
0.00001
|
|
NM_022455.5(NSD1):c.7631C>T (p.Ala2544Val)
|
rs758398402
|
0.00001
|
|
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro)
|
rs1388409083
|
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.7809C>G (p.Leu2603=)
|
rs769301382
|
0.00001
|
|
NM_022455.5(NSD1):c.7897C>T (p.Arg2633Trp)
|
rs758475990
|
0.00001
|
|
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr)
|
rs188326949
|
0.00001
|
|
NM_022455.5(NSD1):c.846A>C (p.Pro282=)
|
rs377539686
|
0.00001
|
|
GRCh37/hg19 5q35.2-35.3(chr5:176582117-176600839)x1
|
|
|
|
GRCh37/hg19 5q35.3(chr5:176639461-176645012)x3
|
|
|
|
GRCh37/hg19 5q35.3(chr5:176693044-176709760)x1
|
|
|
|
GRCh38/hg38 5q35.3(chr5:177228604-177246556)x1
|
|
|
|
NC_000005.10:(?_177131798)_(177300213_)?)del
|
|
|
|
NC_000005.10:g.(?_177235801)_(177239885_?)del
|
|
|
|
NC_000005.10:g.(?_177280545)_(177283948_?)del
|
|
|
|
NC_000005.10:g.(?_177288799)_(177288945_?)del
|
|
|
|
NC_000005.9:g.(?_176618865)_(176619040_?)dup
|
|
|
|
NC_000005.9:g.(?_176631101)_(176631313_?)dup
|
|
|
|
NC_000005.9:g.(?_176638041)_(176722460_?)del
|
|
|
|
NC_000005.9:g.(?_176662802)_(176662966_?)dup
|
|
|
|
NC_000005.9:g.(?_176720813)_(176722460_?)del
|
|
|
|
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
|
|
|
|
NM_022455.4:c.5623-?_c.8091+?del
|
|
|
|
NM_022455.4:c.928-10312_3797-10414del
|
|
|
|
NM_022455.5(NSD1):c.*216CCAA[1]
|
rs886060444
|
|
|
NM_022455.5(NSD1):c.*4609_*4611del
|
rs60995782
|
|
|
NM_022455.5(NSD1):c.*4610_*4611del
|
rs60995782
|
|
|
NM_022455.5(NSD1):c.*4610_*4611dup
|
rs60995782
|
|
|
NM_022455.5(NSD1):c.*4611del
|
rs60995782
|
|
|
NM_022455.5(NSD1):c.*4611dup
|
rs60995782
|
|
|
NM_022455.5(NSD1):c.*4612del
|
rs886060465
|
|
|
NM_022455.5(NSD1):c.*565del
|
rs886060446
|
|
|
NM_022455.5(NSD1):c.*839dup
|
rs886060447
|
|
|
NM_022455.5(NSD1):c.1014del (p.Cys339fs)
|
|
|
|
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys)
|
rs1761727286
|
|
|
NM_022455.5(NSD1):c.1034_1037dup (p.Leu346fs)
|
rs2149821358
|
|
|
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs)
|
rs1581254366
|
|
|
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.1064-10C>T
|
rs1057523596
|
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
|
NM_022455.5(NSD1):c.1064-5C>A
|
rs961502921
|
|
|
NM_022455.5(NSD1):c.1064-6A>T
|
|
|
|
NM_022455.5(NSD1):c.1064-9C>T
|
|
|
|
NM_022455.5(NSD1):c.1077del (p.Arg359fs)
|
rs587784068
|
|
|
NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala)
|
|
|
|
NM_022455.5(NSD1):c.1078C>T (p.Pro360Ser)
|
|
|
|
NM_022455.5(NSD1):c.1089G>A (p.Gln363=)
|
|
|
|
NM_022455.5(NSD1):c.1096G>A (p.Val366Met)
|
rs1172667661
|
|
|
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu)
|
rs1762710997
|
|
|
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg)
|
rs1762711811
|
|
|
NM_022455.5(NSD1):c.1133T>C (p.Val378Ala)
|
|
|
|
NM_022455.5(NSD1):c.1159G>C (p.Glu387Gln)
|
rs1374361789
|
|
|
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val)
|
rs2149836269
|
|
|
NM_022455.5(NSD1):c.1171C>G (p.Gln391Glu)
|
|
|
|
NM_022455.5(NSD1):c.1204G>C (p.Gly402Arg)
|
rs1762715103
|
|
|
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)
|
|
|
|
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+17G>A
|
rs886038671
|
|
|
NM_022455.5(NSD1):c.1236+5G>A
|
|
|
|
NM_022455.5(NSD1):c.1236+9C>A
|
rs886042263
|
|
|
NM_022455.5(NSD1):c.1236+9C>T
|
|
|
|
NM_022455.5(NSD1):c.1237-108C>A
|
rs1407014054
|
|
|
NM_022455.5(NSD1):c.1237-37del
|
rs886038672
|
|
|
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.1249A>T (p.Ile417Phe)
|
|
|
|
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
|
rs1763175962
|
|
|
NM_022455.5(NSD1):c.1260A>G (p.Lys420=)
|
rs1397377820
|
|
|
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)
|
rs587784071
|
|
|
NM_022455.5(NSD1):c.1264dup (p.Glu422fs)
|
rs797045804
|
|
|
NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)
|
|
|
|
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu)
|
rs367809750
|
|
|
NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter)
|
rs367809750
|
|
|
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His)
|
rs1763178149
|
|
|
NM_022455.5(NSD1):c.1299del (p.Lys435fs)
|
|
|
|
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.1325G>C (p.Cys442Ser)
|
|
|
|
NM_022455.5(NSD1):c.1327_1328del (p.Ile443fs)
|
rs1581314832
|
|
|
NM_022455.5(NSD1):c.1331del (p.Pro444fs)
|
rs2149842659
|
|
|
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg)
|
rs757392008
|
|
|
NM_022455.5(NSD1):c.1338A>T (p.Ser446=)
|
rs2149842674
|
|
|
NM_022455.5(NSD1):c.1363A>G (p.Met455Val)
|
rs546116718
|
|
|
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu)
|
rs775730406
|
|
|
NM_022455.5(NSD1):c.1372G>A (p.Glu458Lys)
|
|
|
|
NM_022455.5(NSD1):c.1372G>C (p.Glu458Gln)
|
rs2149842728
|
|
|
NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile)
|
rs776330654
|
|
|
NM_022455.5(NSD1):c.1395G>A (p.Glu465=)
|
|
|
|
NM_022455.5(NSD1):c.1397C>G (p.Ser466Ter)
|
rs1057520581
|
|
|
NM_022455.5(NSD1):c.1407C>A (p.Asp469Glu)
|
|
|
|
NM_022455.5(NSD1):c.140C>G (p.Thr47Ser)
|
rs1562097679
|
|
|
NM_022455.5(NSD1):c.1410G>A (p.Leu470=)
|
|
|
|
NM_022455.5(NSD1):c.1414C>A (p.Leu472Ile)
|
|
|
|
NM_022455.5(NSD1):c.1414C>T (p.Leu472Phe)
|
rs371775975
|
|
|
NM_022455.5(NSD1):c.141T>C (p.Thr47=)
|
|
|
|
NM_022455.5(NSD1):c.1428G>A (p.Leu476=)
|
rs587784072
|
|
|
NM_022455.5(NSD1):c.1454A>G (p.His485Arg)
|
|
|
|
NM_022455.5(NSD1):c.1456del (p.Ser486fs)
|
rs587784073
|
|
|
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)
|
rs1336273625
|
|
|
NM_022455.5(NSD1):c.1467G>C (p.Glu489Asp)
|
|
|
|
NM_022455.5(NSD1):c.1483G>A (p.Ala495Thr)
|
rs752490855
|
|
|
NM_022455.5(NSD1):c.1487A>G (p.Lys496Arg)
|
|
|
|
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.1509delinsGA (p.Asp504fs)
|
rs1562205351
|
|
|
NM_022455.5(NSD1):c.151T>C (p.Ser51Pro)
|
|
|
|
NM_022455.5(NSD1):c.1528A>G (p.Ser510Gly)
|
|
|
|
NM_022455.5(NSD1):c.153G>A (p.Ser51=)
|
rs727504052
|
|
|
NM_022455.5(NSD1):c.1546A>G (p.Ile516Val)
|
|
|
|
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter)
|
rs1131692328
|
|
|
NM_022455.5(NSD1):c.1554T>G (p.Phe518Leu)
|
|
|
|
NM_022455.5(NSD1):c.1562A>G (p.His521Arg)
|
|
|
|
NM_022455.5(NSD1):c.1578G>A (p.Arg526=)
|
rs1562205567
|
|
|
NM_022455.5(NSD1):c.1596C>T (p.Asn532=)
|
rs1554188977
|
|
|
NM_022455.5(NSD1):c.1606A>C (p.Asn536His)
|
rs1554188985
|
|
|
NM_022455.5(NSD1):c.1607A>G (p.Asn536Ser)
|
|
|
|
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs)
|
rs1763204241
|
|
|
NM_022455.5(NSD1):c.1621G>A (p.Asp541Asn)
|
|
|
|
NM_022455.5(NSD1):c.1634C>T (p.Thr545Met)
|
|
|
|
NM_022455.5(NSD1):c.1654del (p.Ser552fs)
|
rs1060501497
|
|
|
NM_022455.5(NSD1):c.1664C>T (p.Ala555Val)
|
rs925398929
|
|
|
NM_022455.5(NSD1):c.1676C>T (p.Thr559Ile)
|
|
|
|
NM_022455.5(NSD1):c.1685A>G (p.Asn562Ser)
|
|
|
|
NM_022455.5(NSD1):c.1687A>C (p.Thr563Pro)
|
rs1763212012
|
|
|
NM_022455.5(NSD1):c.1694C>T (p.Pro565Leu)
|
|
|
|
NM_022455.5(NSD1):c.1699A>G (p.Ser567Gly)
|
|
|
|
NM_022455.5(NSD1):c.1702_1703insAG (p.Phe568Ter)
|
rs1554189042
|
|
|
NM_022455.5(NSD1):c.1711T>G (p.Ser571Ala)
|
|
|
|
NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs)
|
|
|
|
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)
|
rs1299932363
|
|
|
NM_022455.5(NSD1):c.1729A>T (p.Thr577Ser)
|
rs370153971
|
|
|
NM_022455.5(NSD1):c.1739_1740del (p.Lys580fs)
|
rs1064796222
|
|
|
NM_022455.5(NSD1):c.173A>G (p.Gln58Arg)
|
|
|
|
NM_022455.5(NSD1):c.1743del (p.Glu581fs)
|
rs794729232
|
|
|
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val)
|
|
|
|
NM_022455.5(NSD1):c.1745T>C (p.Phe582Ser)
|
|
|
|
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)
|
|
|
|
NM_022455.5(NSD1):c.1760del (p.Gly587fs)
|
rs1581316964
|
|
|
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.1778T>C (p.Leu593Ser)
|
|
|
|
NM_022455.5(NSD1):c.1783G>A (p.Glu595Lys)
|
|
|
|
NM_022455.5(NSD1):c.1786G>C (p.Gly596Arg)
|
|
|
|
NM_022455.5(NSD1):c.1790C>G (p.Ala597Gly)
|
|
|
|
NM_022455.5(NSD1):c.1797C>T (p.Ile599=)
|
rs1554189107
|
|
|
NM_022455.5(NSD1):c.1800A>C (p.Ser600=)
|
rs2149843727
|
|
|
NM_022455.5(NSD1):c.1801A>C (p.Lys601Gln)
|
|
|
|
NM_022455.5(NSD1):c.1802dup (p.Cys602fs)
|
rs797045805
|
|
|
NM_022455.5(NSD1):c.1805G>A (p.Cys602Tyr)
|
rs797045806
|
|
|
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
|
rs587784076
|
|
|
NM_022455.5(NSD1):c.1811G>A (p.Arg604Gln)
|
rs61744451
|
|
|
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu)
|
rs61744451
|
|
|
NM_022455.5(NSD1):c.1812A>T (p.Arg604=)
|
|
|
|
NM_022455.5(NSD1):c.1813G>C (p.Glu605Gln)
|
rs971996804
|
|
|
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)
|
|
|
|
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter)
|
rs1554189131
|
|
|
NM_022455.5(NSD1):c.1820A>G (p.Asn607Ser)
|
rs1265667423
|
|
|
NM_022455.5(NSD1):c.1824del (p.Lys608fs)
|
rs786205648
|
|
|
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)
|
rs1763225156
|
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
|
NM_022455.5(NSD1):c.1837C>G (p.Leu613Val)
|
|
|
|
NM_022455.5(NSD1):c.1839G>A (p.Leu613=)
|
|
|
|
NM_022455.5(NSD1):c.1840G>A (p.Val614Met)
|
|
|
|
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)
|
|
|
|
NM_022455.5(NSD1):c.1852A>G (p.Lys618Glu)
|
|
|
|
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer)
|
rs1562206791
|
|
|
NM_022455.5(NSD1):c.1871T>C (p.Ile624Thr)
|
|
|
|
NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter)
|
rs1286331975
|
|
|
NM_022455.5(NSD1):c.1874G>A (p.Gly625Glu)
|
|
|
|
NM_022455.5(NSD1):c.1879G>A (p.Gly627Ser)
|
rs1449506408
|
|
|
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)
|
rs1481136060
|
|
|
NM_022455.5(NSD1):c.1895G>A (p.Arg632Gln)
|
|
|
|
NM_022455.5(NSD1):c.1906A>G (p.Ile636Val)
|
rs1410310481
|
|
|
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala)
|
rs1763234813
|
|
|
NM_022455.5(NSD1):c.1925C>T (p.Ser642Phe)
|
|
|
|
NM_022455.5(NSD1):c.1940G>A (p.Ser647Asn)
|
|
|
|
NM_022455.5(NSD1):c.1964G>A (p.Ser655Asn)
|
|
|
|
NM_022455.5(NSD1):c.197dup (p.Ser67fs)
|
rs1756220614
|
|
|
NM_022455.5(NSD1):c.1980C>A (p.Asn660Lys)
|
rs140072393
|
|
|
NM_022455.5(NSD1):c.1981del (p.Ser661fs)
|
|
|
|
NM_022455.5(NSD1):c.199T>A (p.Ser67Thr)
|
|
|
|
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn)
|
rs1554189230
|
|
|
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs)
|
rs587784078
|
|
|
NM_022455.5(NSD1):c.2025G>A (p.Met675Ile)
|
|
|
|
NM_022455.5(NSD1):c.2026T>C (p.Leu676=)
|
|
|
|
NM_022455.5(NSD1):c.2045A>C (p.Glu682Ala)
|
|
|
|
NM_022455.5(NSD1):c.2047_2048del (p.Lys683fs)
|
rs587784079
|
|
|
NM_022455.5(NSD1):c.2048del (p.Lys683fs)
|
rs587784079
|
|
|
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
|
rs587784080
|
|
|
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg)
|
rs1281302772
|
|
|
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs)
|
rs2149844461
|
|
|
NM_022455.5(NSD1):c.2054dup (p.Tyr686fs)
|
rs1554189269
|
|
|
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter)
|
rs786205576
|
|
|
NM_022455.5(NSD1):c.2064del (p.Arg688fs)
|
rs587784081
|
|
|
NM_022455.5(NSD1):c.2073C>T (p.Ala691=)
|
rs1054023528
|
|
|
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp)
|
rs773782115
|
|
|
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter)
|
rs1562097849
|
|
|
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly)
|
rs1581318727
|
|
|
NM_022455.5(NSD1):c.2091A>G (p.Lys697=)
|
|
|
|
NM_022455.5(NSD1):c.2097dup (p.Gln700fs)
|
rs1763249718
|
|
|
NM_022455.5(NSD1):c.2099A>G (p.Gln700Arg)
|
rs2149844607
|
|
|
NM_022455.5(NSD1):c.2108del (p.Leu703fs)
|
rs886041550
|
|
|
NM_022455.5(NSD1):c.2124_2127del (p.His708fs)
|
rs587784082
|
|
|
NM_022455.5(NSD1):c.2137dup (p.Met713fs)
|
rs1581318949
|
|
|
NM_022455.5(NSD1):c.2148T>G (p.Thr716=)
|
rs780294858
|
|
|
NM_022455.5(NSD1):c.2152_2153del (p.Ser718fs)
|
rs1064796161
|
|
|
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
|
|
|
|
NM_022455.5(NSD1):c.2163_2169del (p.Gly722fs)
|
rs886041832
|
|
|
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs)
|
rs2149844773
|
|
|
NM_022455.5(NSD1):c.2167dup (p.Thr723fs)
|
rs797045807
|
|
|
NM_022455.5(NSD1):c.2175G>A (p.Thr725=)
|
|
|
|
NM_022455.5(NSD1):c.2175_2176inv (p.Ser726Pro)
|
|
|
|
NM_022455.5(NSD1):c.2181G>C (p.Gln727His)
|
|
|
|
NM_022455.5(NSD1):c.2186A>G (p.Asn729Ser)
|
|
|
|
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs)
|
rs797045808
|
|
|
NM_022455.5(NSD1):c.2194G>A (p.Asp732Asn)
|
|
|
|
NM_022455.5(NSD1):c.2194G>C (p.Asp732His)
|
|
|
|
NM_022455.5(NSD1):c.2209A>G (p.Thr737Ala)
|
|
|
|
NM_022455.5(NSD1):c.2209dup (p.Thr737fs)
|
rs1763260541
|
|
|
NM_022455.5(NSD1):c.2215_2217del (p.Val739del)
|
rs1763260903
|
|
|
NM_022455.5(NSD1):c.2225C>G (p.Pro742Arg)
|
rs777960412
|
|
|
NM_022455.5(NSD1):c.2229G>C (p.Gln743His)
|
|
|
|
NM_022455.5(NSD1):c.2231C>T (p.Ser744Leu)
|
rs1581319591
|
|
|
NM_022455.5(NSD1):c.2240C>T (p.Thr747Ile)
|
|
|
|
NM_022455.5(NSD1):c.2241A>G (p.Thr747=)
|
|
|
|
NM_022455.5(NSD1):c.2249C>T (p.Ala750Val)
|
|
|
|
NM_022455.5(NSD1):c.2250T>A (p.Ala750=)
|
|
|
|
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs)
|
rs1581319715
|
|
|
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile)
|
rs139085502
|
|
|
NM_022455.5(NSD1):c.2276C>A (p.Ser759Ter)
|
rs587784084
|
|
|
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter)
|
rs587784084
|
|
|
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr)
|
rs1763266375
|
|
|
NM_022455.5(NSD1):c.2289_2317dup (p.Ala773delinsValArgThrArgTer)
|
rs1581319867
|
|
|
NM_022455.5(NSD1):c.2290G>C (p.Glu764Gln)
|
|
|
|
NM_022455.5(NSD1):c.2295del (p.Ser766fs)
|
rs587784085
|
|
|
NM_022455.5(NSD1):c.2297C>G (p.Ser766Trp)
|
rs773591859
|
|
|
NM_022455.5(NSD1):c.22C>T (p.Pro8Ser)
|
|
|
|
NM_022455.5(NSD1):c.2300TAA[1] (p.Ile768del)
|
|
|
|
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
|
|
|
|
NM_022455.5(NSD1):c.2309G>A (p.Gly770Asp)
|
|
|
|
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val)
|
rs375566261
|
|
|
NM_022455.5(NSD1):c.2314del (p.Ala772fs)
|
rs1554189482
|
|
|
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)
|
rs1554189490
|
|
|
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)
|
|
|
|
NM_022455.5(NSD1):c.2334A>G (p.Leu778=)
|
|
|
|
NM_022455.5(NSD1):c.2334dup (p.His779fs)
|
rs1554189512
|
|
|
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)
|
rs201327209
|
|
|
NM_022455.5(NSD1):c.2349del (p.Lys783fs)
|
rs398124374
|
|
|
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter)
|
rs374740802
|
|
|
NM_022455.5(NSD1):c.2352_2353delinsAA (p.Pro785Thr)
|
rs1763273634
|
|
|
NM_022455.5(NSD1):c.2358G>C (p.Lys786Asn)
|
|
|
|
NM_022455.5(NSD1):c.2362C>G (p.Arg788Gly)
|
|
|
|
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
|
rs1057520339
|
|
|
NM_022455.5(NSD1):c.2370A>C (p.Ile790=)
|
|
|
|
NM_022455.5(NSD1):c.2376C>T (p.Cys792=)
|
rs368839996
|
|
|
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
|
rs587784086
|
|
|
NM_022455.5(NSD1):c.2387A>C (p.Glu796Ala)
|
|
|
|
NM_022455.5(NSD1):c.2401G>A (p.Ala801Thr)
|
|
|
|
NM_022455.5(NSD1):c.2407C>T (p.Pro803Ser)
|
|
|
|
NM_022455.5(NSD1):c.2408C>G (p.Pro803Arg)
|
rs1763279245
|
|
|
NM_022455.5(NSD1):c.2416A>G (p.Ile806Val)
|
rs1562208925
|
|
|
NM_022455.5(NSD1):c.2417T>C (p.Ile806Thr)
|
|
|
|
NM_022455.5(NSD1):c.2425dup (p.Glu809fs)
|
|
|
|
NM_022455.5(NSD1):c.2428T>C (p.Cys810Arg)
|
|
|
|
NM_022455.5(NSD1):c.2429G>T (p.Cys810Phe)
|
rs1763281290
|
|
|
NM_022455.5(NSD1):c.242T>C (p.Met81Thr)
|
|
|
|
NM_022455.5(NSD1):c.2431_2432insCACTC (p.Ser811fs)
|
|
|
|
NM_022455.5(NSD1):c.243G>C (p.Met81Ile)
|
rs886042530
|
|
|
NM_022455.5(NSD1):c.2452G>A (p.Asp818Asn)
|
|
|
|
NM_022455.5(NSD1):c.2473G>T (p.Ala825Ser)
|
|
|
|
NM_022455.5(NSD1):c.2493dup (p.Lys832fs)
|
|
|
|
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.2520_2524del (p.Asn841fs)
|
|
|
|
NM_022455.5(NSD1):c.2524A>G (p.Met842Val)
|
|
|
|
NM_022455.5(NSD1):c.2528A>T (p.His843Leu)
|
|
|
|
NM_022455.5(NSD1):c.252A>G (p.Val84=)
|
|
|
|
NM_022455.5(NSD1):c.2552A>T (p.Asp851Val)
|
|
|
|
NM_022455.5(NSD1):c.2555_2556del (p.Ile852fs)
|
rs1763290288
|
|
|
NM_022455.5(NSD1):c.2560A>G (p.Thr854Ala)
|
|
|
|
NM_022455.5(NSD1):c.2564C>T (p.Ala855Val)
|
rs2149845759
|
|
|
NM_022455.5(NSD1):c.2565A>G (p.Ala855=)
|
|
|
|
NM_022455.5(NSD1):c.2575_2576del (p.His859fs)
|
|
|
|
NM_022455.5(NSD1):c.2581T>C (p.Leu861=)
|
rs1393651252
|
|
|
NM_022455.5(NSD1):c.2605dup (p.Tyr869fs)
|
rs2149845831
|
|
|
NM_022455.5(NSD1):c.2613del (p.Ser871_Leu872insTer)
|
rs1581321541
|
|
|
NM_022455.5(NSD1):c.2615T>G (p.Leu872Ter)
|
rs1581321573
|
|
|
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs)
|
rs1060501490
|
|
|
NM_022455.5(NSD1):c.2636_2637del (p.Ser879fs)
|
rs1554189720
|
|
|
NM_022455.5(NSD1):c.2639del (p.Gly880fs)
|
rs587784087
|
|
|
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)
|
rs2149845949
|
|
|
NM_022455.5(NSD1):c.2652A>G (p.Pro884=)
|
rs1060504243
|
|
|
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter)
|
rs587784088
|
|
|
NM_022455.5(NSD1):c.2655A>G (p.Ser885=)
|
rs1437774200
|
|
|
NM_022455.5(NSD1):c.2668T>G (p.Phe890Val)
|
rs1763299227
|
|
|
NM_022455.5(NSD1):c.2669T>A (p.Phe890Tyr)
|
|
|
|
NM_022455.5(NSD1):c.2670C>G (p.Phe890Leu)
|
|
|
|
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)
|
rs1131691754
|
|
|
NM_022455.5(NSD1):c.2674del (p.Ser892fs)
|
rs2149846018
|
|
|
NM_022455.5(NSD1):c.2683A>C (p.Ser895Arg)
|
|
|
|
NM_022455.5(NSD1):c.2687A>G (p.Gln896Arg)
|
rs1581321959
|
|
|
NM_022455.5(NSD1):c.26G>T (p.Arg9Ile)
|
|
|
|
NM_022455.5(NSD1):c.2711A>C (p.Asp904Ala)
|
rs398124375
|
|
|
NM_022455.5(NSD1):c.2731C>T (p.Leu911=)
|
rs886038673
|
|
|
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe)
|
|
|
|
NM_022455.5(NSD1):c.274G>A (p.Asp92Asn)
|
|
|
|
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs)
|
rs1064794051
|
|
|
NM_022455.5(NSD1):c.2776C>A (p.Arg926=)
|
rs886038674
|
|
|
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp)
|
rs886038674
|
|
|
NM_022455.5(NSD1):c.2778G>T (p.Arg926=)
|
|
|
|
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
|
|
|
|
NM_022455.5(NSD1):c.2800G>T (p.Val934Phe)
|
|
|
|
NM_022455.5(NSD1):c.2805T>C (p.Ser935=)
|
|
|
|
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
|
rs2149846283
|
|
|
NM_022455.5(NSD1):c.2815_2817dup (p.Pro939_Gly940insPro)
|
|
|
|
NM_022455.5(NSD1):c.2816C>T (p.Pro939Leu)
|
rs1179994585
|
|
|
NM_022455.5(NSD1):c.2827del (p.Asp943fs)
|
rs587784089
|
|
|
NM_022455.5(NSD1):c.2831G>A (p.Cys944Tyr)
|
|
|
|
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr)
|
rs2095343853
|
|
|
NM_022455.5(NSD1):c.2853A>C (p.Gly951=)
|
|
|
|
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter)
|
rs797045809
|
|
|
NM_022455.5(NSD1):c.2860A>G (p.Lys954Glu)
|
|
|
|
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
|
|
|
|
NM_022455.5(NSD1):c.2892_2914dup (p.Thr972fs)
|
rs1554189871
|
|
|
NM_022455.5(NSD1):c.2909A>G (p.Asp970Gly)
|
|
|
|
NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr)
|
|
|
|
NM_022455.5(NSD1):c.2912G>A (p.Gly971Asp)
|
rs371226812
|
|
|
NM_022455.5(NSD1):c.2914A>G (p.Thr972Ala)
|
|
|
|
NM_022455.5(NSD1):c.2915del (p.Thr972fs)
|
rs1554189879
|
|
|
NM_022455.5(NSD1):c.2930A>G (p.Asn977Ser)
|
|
|
|
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp)
|
rs587784091
|
|
|
NM_022455.5(NSD1):c.2947G>A (p.Gly983Ser)
|
rs373280032
|
|
|
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer)
|
rs2149846650
|
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
|
NM_022455.5(NSD1):c.2956del (p.Ala986fs)
|
rs587784093
|
|
|
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe)
|
rs1465577289
|
|
|
NM_022455.5(NSD1):c.2970G>T (p.Glu990Asp)
|
|
|
|
NM_022455.5(NSD1):c.2976T>A (p.Ser992=)
|
|
|
|
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)
|
rs2149846817
|
|
|
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.29G>A (p.Arg10Lys)
|
rs1581089074
|
|
|
NM_022455.5(NSD1):c.3001G>A (p.Asp1001Asn)
|
|
|
|
NM_022455.5(NSD1):c.3002A>G (p.Asp1001Gly)
|
|
|
|
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs)
|
rs1554189941
|
|
|
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs)
|
rs2149846876
|
|
|
NM_022455.5(NSD1):c.3012C>A (p.Asp1004Glu)
|
|
|
|
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
|
|
|
|
NM_022455.5(NSD1):c.3017del (p.Pro1006fs)
|
rs2149846924
|
|
|
NM_022455.5(NSD1):c.3029A>G (p.Lys1010Arg)
|
|
|
|
NM_022455.5(NSD1):c.3031del (p.Ser1011fs)
|
rs2149846959
|
|
|
NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)
|
|
|
|
NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer)
|
rs1554189972
|
|
|
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)
|
rs1006906224
|
|
|
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)
|
rs587784094
|
|
|
NM_022455.5(NSD1):c.3055C>G (p.Arg1019Gly)
|
|
|
|
NM_022455.5(NSD1):c.3056G>C (p.Arg1019Pro)
|
|
|
|
NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)
|
|
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
|
NM_022455.5(NSD1):c.3079T>G (p.Ser1027Ala)
|
|
|
|
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
|
|
|
|
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
|
rs587784096
|
|
|
NM_022455.5(NSD1):c.3099T>C (p.Ala1033=)
|
|
|
|
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter)
|
rs2149847258
|
|
|
NM_022455.5(NSD1):c.3110A>G (p.Gln1037Arg)
|
rs794727735
|
|
|
NM_022455.5(NSD1):c.3114G>T (p.Met1038Ile)
|
rs1581324163
|
|
|
NM_022455.5(NSD1):c.3145_3146dup (p.Thr1050fs)
|
rs797045810
|
|
|
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs)
|
rs797045810
|
|
|
NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)
|
|
|
|
NM_022455.5(NSD1):c.3155G>A (p.Arg1052His)
|
|
|
|
NM_022455.5(NSD1):c.3169A>T (p.Asn1057Tyr)
|
|
|
|
NM_022455.5(NSD1):c.3171T>C (p.Asn1057=)
|
rs1763344554
|
|
|
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)
|
rs1763344725
|
|
|
NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys)
|
|
|
|
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs)
|
rs587784097
|
|
|
NM_022455.5(NSD1):c.3192T>C (p.Leu1064=)
|
|
|
|
NM_022455.5(NSD1):c.3193G>T (p.Asp1065Tyr)
|
|
|
|
NM_022455.5(NSD1):c.3197C>G (p.Ala1066Gly)
|
|
|
|
NM_022455.5(NSD1):c.319G>A (p.Ala107Thr)
|
|
|
|
NM_022455.5(NSD1):c.3207G>C (p.Gln1069His)
|
|
|
|
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.3226G>A (p.Gly1076Ser)
|
|
|
|
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.3238G>A (p.Gly1080Ser)
|
|
|
|
NM_022455.5(NSD1):c.3242G>C (p.Gly1081Ala)
|
|
|
|
NM_022455.5(NSD1):c.3247G>A (p.Glu1083Lys)
|
|
|
|
NM_022455.5(NSD1):c.3254del (p.Pro1085fs)
|
rs2149847798
|
|
|
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)
|
rs797045811
|
|
|
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs)
|
rs1763353656
|
|
|
NM_022455.5(NSD1):c.3274C>T (p.Gln1092Ter)
|
rs1562212423
|
|
|
NM_022455.5(NSD1):c.3275A>G (p.Gln1092Arg)
|
|
|
|
NM_022455.5(NSD1):c.3277A>C (p.Ile1093Leu)
|
|
|
|
NM_022455.5(NSD1):c.3290T>A (p.Leu1097Ter)
|
rs1562212484
|
|
|
NM_022455.5(NSD1):c.3293del (p.Thr1098fs)
|
rs587784099
|
|
|
NM_022455.5(NSD1):c.3295del (p.Ser1099fs)
|
rs587784100
|
|
|
NM_022455.5(NSD1):c.3309C>G (p.Asp1103Glu)
|
|
|
|
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs)
|
rs797045812
|
|
|
NM_022455.5(NSD1):c.3321T>C (p.Asp1107=)
|
|
|
|
NM_022455.5(NSD1):c.3323T>C (p.Val1108Ala)
|
rs779656661
|
|
|
NM_022455.5(NSD1):c.3331G>A (p.Asp1111Asn)
|
|
|
|
NM_022455.5(NSD1):c.3331G>T (p.Asp1111Tyr)
|
rs151165525
|
|
|
NM_022455.5(NSD1):c.3335G>A (p.Ser1112Asn)
|
|
|
|
NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe)
|
|
|
|
NM_022455.5(NSD1):c.3344A>G (p.Lys1115Arg)
|
|
|
|
NM_022455.5(NSD1):c.3348A>G (p.Gln1116=)
|
|
|
|
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.3364dup (p.Ile1122fs)
|
rs2149848202
|
|
|
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.3383_3384del (p.Ser1128fs)
|
rs587784101
|
|
|
NM_022455.5(NSD1):c.3383del (p.Ser1128fs)
|
|
|
|
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer)
|
rs1554190214
|
|
|
NM_022455.5(NSD1):c.3387_3389delinsGG (p.Phe1129fs)
|
rs886039717
|
|
|
NM_022455.5(NSD1):c.3409C>T (p.Leu1137=)
|
|
|
|
NM_022455.5(NSD1):c.340A>C (p.Thr114Pro)
|
rs749444972
|
|
|
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile)
|
rs1763367854
|
|
|
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs)
|
rs1763367673
|
|
|
NM_022455.5(NSD1):c.3422T>G (p.Met1141Arg)
|
|
|
|
NM_022455.5(NSD1):c.3422del (p.Met1141fs)
|
rs1554190247
|
|
|
NM_022455.5(NSD1):c.3423_3424insCC (p.Asn1142fs)
|
rs1064796081
|
|
|
NM_022455.5(NSD1):c.3425A>G (p.Asn1142Ser)
|
|
|
|
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu)
|
rs1180409864
|
|
|
NM_022455.5(NSD1):c.3440A>G (p.Glu1147Gly)
|
|
|
|
NM_022455.5(NSD1):c.3442C>G (p.Leu1148Val)
|
|
|
|
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
|
|
|
|
NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs)
|
rs1554190262
|
|
|
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.3473A>G (p.Lys1158Arg)
|
|
|
|
NM_022455.5(NSD1):c.3481C>T (p.Gln1161Ter)
|
rs1554190292
|
|
|
NM_022455.5(NSD1):c.3485G>A (p.Arg1162His)
|
|
|
|
NM_022455.5(NSD1):c.3496del (p.Arg1166fs)
|
rs1763373604
|
|
|
NM_022455.5(NSD1):c.3509C>T (p.Pro1170Leu)
|
|
|
|
NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys)
|
|
|
|
NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter)
|
rs1562213291
|
|
|
NM_022455.5(NSD1):c.3525C>G (p.Asn1175Lys)
|
|
|
|
NM_022455.5(NSD1):c.3536del (p.Glu1179fs)
|
rs1562213381
|
|
|
NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)
|
|
|
|
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.3548_3549insGA (p.Glu1184fs)
|
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.3563G>A (p.Arg1188Lys)
|
|
|
|
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs)
|
rs1562213553
|
|
|
NM_022455.5(NSD1):c.3575del (p.Pro1192fs)
|
rs1064796114
|
|
|
NM_022455.5(NSD1):c.3577A>G (p.Ser1193Gly)
|
|
|
|
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)
|
|
|
|
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs)
|
rs587784103
|
|
|
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs)
|
rs797045814
|
|
|
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.3598C>T (p.Arg1200Trp)
|
|
|
|
NM_022455.5(NSD1):c.3631_3632delinsA (p.Ala1211fs)
|
rs886042047
|
|
|
NM_022455.5(NSD1):c.3637A>G (p.Ile1213Val)
|
|
|
|
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met)
|
rs1425698482
|
|
|
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr)
|
rs372004424
|
|
|
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.3682G>C (p.Asp1228His)
|
rs1161564727
|
|
|
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)
|
rs1763389239
|
|
|
NM_022455.5(NSD1):c.3687del (p.Ala1230fs)
|
rs2149849204
|
|
|
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter)
|
rs2149849285
|
|
|
NM_022455.5(NSD1):c.3706G>A (p.Val1236Ile)
|
|
|
|
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val)
|
rs1581327291
|
|
|
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.3763A>C (p.Ser1255Arg)
|
|
|
|
NM_022455.5(NSD1):c.3771A>G (p.Thr1257=)
|
|
|
|
NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs)
|
|
|
|
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs)
|
rs1763397145
|
|
|
NM_022455.5(NSD1):c.3788del (p.Pro1263fs)
|
rs1763397665
|
|
|
NM_022455.5(NSD1):c.3794C>G (p.Pro1265Arg)
|
|
|
|
NM_022455.5(NSD1):c.3796+1_3796+6del
|
|
|
|
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.37C>A (p.Leu13Met)
|
|
|
|
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn)
|
|
|
|
NM_022455.5(NSD1):c.3818_3819del (p.Arg1273fs)
|
|
|
|
NM_022455.5(NSD1):c.3819C>T (p.Arg1273=)
|
|
|
|
NM_022455.5(NSD1):c.381A>T (p.Lys127Asn)
|
|
|
|
NM_022455.5(NSD1):c.3833G>A (p.Ser1278Asn)
|
rs1765400132
|
|
|
NM_022455.5(NSD1):c.3837G>T (p.Lys1279Asn)
|
|
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
|
NM_022455.5(NSD1):c.3868del (p.Gln1290fs)
|
rs1554195302
|
|
|
NM_022455.5(NSD1):c.3869A>C (p.Gln1290Pro)
|
rs1562242250
|
|
|
NM_022455.5(NSD1):c.3870G>T (p.Gln1290His)
|
|
|
|
NM_022455.5(NSD1):c.3874T>A (p.Phe1292Ile)
|
|
|
|
NM_022455.5(NSD1):c.3888A>G (p.Lys1296=)
|
rs587784106
|
|
|
NM_022455.5(NSD1):c.3891del (p.Lys1297fs)
|
rs1765403726
|
|
|
NM_022455.5(NSD1):c.3894_3896del (p.Lys1300del)
|
rs2149884022
|
|
|
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)
|
|
|
|
NM_022455.5(NSD1):c.3921+18A>G
|
|
|
|
NM_022455.5(NSD1):c.3922-157del
|
rs34640392
|
|
|
NM_022455.5(NSD1):c.3922-1G>C
|
rs1581407682
|
|
|
NM_022455.5(NSD1):c.3922-2_3925delinsG
|
rs1554195815
|
|
|
NM_022455.5(NSD1):c.3922-9T>A
|
|
|
|
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs)
|
rs797045815
|
|
|
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)
|
|
|
|
NM_022455.5(NSD1):c.3949C>G (p.Leu1317Val)
|
|
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
|
NM_022455.5(NSD1):c.395G>A (p.Cys132Tyr)
|
|
|
|
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
|
rs587784107
|
|
|
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)
|
rs750684515
|
|
|
NM_022455.5(NSD1):c.3966A>C (p.Arg1322=)
|
|
|
|
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs)
|
rs1554195840
|
|
|
NM_022455.5(NSD1):c.3975T>C (p.Ala1325=)
|
|
|
|
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter)
|
rs2149887293
|
|
|
NM_022455.5(NSD1):c.398A>G (p.Asn133Ser)
|
|
|
|
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly)
|
rs587784108
|
|
|
NM_022455.5(NSD1):c.3994G>C (p.Glu1332Gln)
|
|
|
|
NM_022455.5(NSD1):c.3997A>G (p.Asn1333Asp)
|
|
|
|
NM_022455.5(NSD1):c.39G>C (p.Leu13=)
|
rs1581089158
|
|
|
NM_022455.5(NSD1):c.4014del (p.Glu1340fs)
|
|
|
|
NM_022455.5(NSD1):c.4020A>G (p.Glu1340=)
|
rs2149887388
|
|
|
NM_022455.5(NSD1):c.4020del (p.Glu1341fs)
|
rs797045816
|
|
|
NM_022455.5(NSD1):c.4029A>G (p.Pro1343=)
|
|
|
|
NM_022455.5(NSD1):c.4049C>T (p.Pro1350Leu)
|
|
|
|
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs)
|
rs1765615038
|
|
|
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter)
|
rs587784109
|
|
|
NM_022455.5(NSD1):c.4058_4061del (p.Glu1353fs)
|
rs1554195857
|
|
|
NM_022455.5(NSD1):c.405C>T (p.Ser135=)
|
|
|
|
NM_022455.5(NSD1):c.4062C>T (p.Gly1354=)
|
rs144562009
|
|
|
NM_022455.5(NSD1):c.4072C>T (p.Gln1358Ter)
|
|
|
|
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)
|
rs587784110
|
|
|
NM_022455.5(NSD1):c.4091G>T (p.Gly1364Val)
|
rs1554195876
|
|
|
NM_022455.5(NSD1):c.4107G>A (p.Pro1369=)
|
|
|
|
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)
|
rs1581408152
|
|
|
NM_022455.5(NSD1):c.4118T>C (p.Leu1373Ser)
|
rs1554195885
|
|
|
NM_022455.5(NSD1):c.4124del (p.Val1375fs)
|
rs1765618844
|
|
|
NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)
|
|
|
|
NM_022455.5(NSD1):c.4162G>A (p.Glu1388Lys)
|
rs1581408218
|
|
|
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
|
|
|
|
NM_022455.5(NSD1):c.4188G>T (p.Thr1396=)
|
rs148112060
|
|
|
NM_022455.5(NSD1):c.4192+16G>T
|
rs886038675
|
|
|
NM_022455.5(NSD1):c.4192+1G>A
|
rs2149887853
|
|
|
NM_022455.5(NSD1):c.4192+2T>G
|
rs587784111
|
|
|
NM_022455.5(NSD1):c.4193-17A>G
|
|
|
|
NM_022455.5(NSD1):c.4193-1G>A
|
rs1581411423
|
|
|
NM_022455.5(NSD1):c.4193-8C>T
|
|
|
|
NM_022455.5(NSD1):c.4196del (p.Asn1399fs)
|
|
|
|
NM_022455.5(NSD1):c.4205G>A (p.Ser1402Asn)
|
|
|
|
NM_022455.5(NSD1):c.4211G>A (p.Arg1404His)
|
|
|
|
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter)
|
rs1581411478
|
|
|
NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
|
rs1765712615
|
|
|
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs)
|
rs794727930
|
|
|
NM_022455.5(NSD1):c.4220_4221del (p.Lys1407fs)
|
rs2149889364
|
|
|
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs)
|
rs1765713589
|
|
|
NM_022455.5(NSD1):c.4242del (p.Glu1414fs)
|
|
|
|
NM_022455.5(NSD1):c.4257C>A (p.Asp1419Glu)
|
|
|
|
NM_022455.5(NSD1):c.4259C>G (p.Pro1420Arg)
|
|
|
|
NM_022455.5(NSD1):c.4273A>C (p.Lys1425Gln)
|
|
|
|
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs)
|
rs797045817
|
|
|
NM_022455.5(NSD1):c.42G>C (p.Leu14=)
|
|
|
|
NM_022455.5(NSD1):c.4301A>G (p.Lys1434Arg)
|
|
|
|
NM_022455.5(NSD1):c.4301del (p.Lys1434fs)
|
rs587784112
|
|
|
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs)
|
rs587784112
|
|
|
NM_022455.5(NSD1):c.4302+1G>A
|
rs1562246533
|
|
|
NM_022455.5(NSD1):c.4302+341_4302+342del
|
rs142778014
|
|
|
NM_022455.5(NSD1):c.4302+3A>T
|
|
|
|
NM_022455.5(NSD1):c.4303-1G>C
|
rs1766101931
|
|
|
NM_022455.5(NSD1):c.4303-3T>G
|
|
|
|
NM_022455.5(NSD1):c.4303-8A>G
|
|
|
|
NM_022455.5(NSD1):c.4306T>C (p.Tyr1436His)
|
rs1435199225
|
|
|
NM_022455.5(NSD1):c.4308T>C (p.Tyr1436=)
|
|
|
|
NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter)
|
rs2149894799
|
|
|
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu)
|
rs587784113
|
|
|
NM_022455.5(NSD1):c.4365del (p.Asp1456fs)
|
|
|
|
NM_022455.5(NSD1):c.4376del (p.Gly1459fs)
|
rs587784114
|
|
|
NM_022455.5(NSD1):c.4378+15_4378+16del
|
rs2149894868
|
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
|
NM_022455.5(NSD1):c.4378+1G>T
|
rs587784115
|
|
|
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.4378+7A>G
|
rs587784116
|
|
|
NM_022455.5(NSD1):c.4379-2A>G
|
rs1581429903
|
|
|
NM_022455.5(NSD1):c.438C>G (p.Ile146Met)
|
rs1240259079
|
|
|
NM_022455.5(NSD1):c.4398C>G (p.Asp1466Glu)
|
|
|
|
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.4428T>A (p.His1476Gln)
|
rs1581430053
|
|
|
NM_022455.5(NSD1):c.4431T>C (p.Ala1477=)
|
|
|
|
NM_022455.5(NSD1):c.4433C>T (p.Ala1478Val)
|
|
|
|
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter)
|
rs587784118
|
|
|
NM_022455.5(NSD1):c.4458G>A (p.Val1486=)
|
|
|
|
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
|
|
|
|
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=)
|
rs150920473
|
|
|
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs)
|
rs797045819
|
|
|
NM_022455.5(NSD1):c.4484T>G (p.Ile1495Ser)
|
rs1554197510
|
|
|
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter)
|
rs587784119
|
|
|
NM_022455.5(NSD1):c.4498-10del
|
rs200890017
|
|
|
NM_022455.5(NSD1):c.4498-3A>G
|
rs587784120
|
|
|
NM_022455.5(NSD1):c.4501G>A (p.Glu1501Lys)
|
|
|
|
NM_022455.5(NSD1):c.4508T>G (p.Met1503Arg)
|
|
|
|
NM_022455.5(NSD1):c.4509G>T (p.Met1503Ile)
|
|
|
|
NM_022455.5(NSD1):c.4514dup (p.His1505fs)
|
rs2149899468
|
|
|
NM_022455.5(NSD1):c.451C>T (p.Leu151=)
|
|
|
|
NM_022455.5(NSD1):c.4521G>A (p.Thr1507=)
|
rs778642917
|
|
|
NM_022455.5(NSD1):c.4521_4522delinsTT (p.Ala1508Ser)
|
rs1766449552
|
|
|
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp)
|
rs1766450095
|
|
|
NM_022455.5(NSD1):c.4528A>G (p.Ser1510Gly)
|
|
|
|
NM_022455.5(NSD1):c.4529del (p.Ser1510fs)
|
rs587784121
|
|
|
NM_022455.5(NSD1):c.4531C>A (p.Pro1511Thr)
|
|
|
|
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs)
|
rs1581433729
|
|
|
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln)
|
rs2149899575
|
|
|
NM_022455.5(NSD1):c.4552G>A (p.Gly1518Ser)
|
|
|
|
NM_022455.5(NSD1):c.4561C>A (p.His1521Asn)
|
rs1401885898
|
|
|
NM_022455.5(NSD1):c.4563C>T (p.His1521=)
|
|
|
|
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.4569del (p.Met1525fs)
|
rs2149899647
|
|
|
NM_022455.5(NSD1):c.4574T>C (p.Met1525Thr)
|
rs1060501491
|
|
|
NM_022455.5(NSD1):c.4583C>T (p.Ser1528Phe)
|
rs1581433960
|
|
|
NM_022455.5(NSD1):c.4591A>G (p.Met1531Val)
|
|
|
|
NM_022455.5(NSD1):c.4604G>A (p.Arg1535His)
|
|
|
|
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.4642-2A>G
|
|
|
|
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly)
|
rs1562259810
|
|
|
NM_022455.5(NSD1):c.4651A>T (p.Lys1551Ter)
|
|
|
|
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter)
|
rs2149904394
|
|
|
NM_022455.5(NSD1):c.4658del (p.Gly1553fs)
|
rs886041615
|
|
|
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs)
|
rs2149904428
|
|
|
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter)
|
rs587784122
|
|
|
NM_022455.5(NSD1):c.4691G>A (p.Gly1564Glu)
|
|
|
|
NM_022455.5(NSD1):c.4701C>A (p.His1567Gln)
|
rs2149904507
|
|
|
NM_022455.5(NSD1):c.4702del (p.Leu1568fs)
|
rs1755987983
|
|
|
NM_022455.5(NSD1):c.4705del (p.Glu1569fs)
|
rs587784123
|
|
|
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser)
|
rs1755989003
|
|
|
NM_022455.5(NSD1):c.4715G>A (p.Gly1572Glu)
|
|
|
|
NM_022455.5(NSD1):c.4722T>G (p.Thr1574=)
|
rs1279409189
|
|
|
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs)
|
rs587784124
|
|
|
NM_022455.5(NSD1):c.4732A>G (p.Arg1578Gly)
|
rs2149904592
|
|
|
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs)
|
rs797045820
|
|
|
NM_022455.5(NSD1):c.4745del (p.Ile1582fs)
|
rs587784125
|
|
|
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.4756T>C (p.Cys1586Arg)
|
rs1554198434
|
|
|
NM_022455.5(NSD1):c.4759C>T (p.Arg1587Cys)
|
rs764613088
|
|
|
NM_022455.5(NSD1):c.4759_4765+2del
|
rs2149904640
|
|
|
NM_022455.5(NSD1):c.4760G>A (p.Arg1587His)
|
|
|
|
NM_022455.5(NSD1):c.4764A>G (p.Thr1588=)
|
|
|
|
NM_022455.5(NSD1):c.4765+10A>T
|
rs1554198444
|
|
|
NM_022455.5(NSD1):c.4765+18C>T
|
rs751340849
|
|
|
NM_022455.5(NSD1):c.4765+19G>A
|
|
|
|
NM_022455.5(NSD1):c.4765+1G>A
|
rs1057520671
|
|
|
NM_022455.5(NSD1):c.4765+4A>G
|
rs1554198443
|
|
|
NM_022455.5(NSD1):c.4766-1G>A
|
rs1756517678
|
|
|
NM_022455.5(NSD1):c.4766-2A>C
|
|
|
|
NM_022455.5(NSD1):c.4766-2A>G
|
rs1581457332
|
|
|
NM_022455.5(NSD1):c.4766-7T>C
|
rs2149912243
|
|
|
NM_022455.5(NSD1):c.4766-9G>T
|
rs747358179
|
|
|
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr)
|
rs1554199368
|
|
|
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
|
|
|
|
NM_022455.5(NSD1):c.4777T>A (p.Cys1593Ser)
|
rs1060501495
|
|
|
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.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
|
NM_022455.5(NSD1):c.4818C>T (p.Cys1606=)
|
|
|
|
NM_022455.5(NSD1):c.4819_4820dup (p.Leu1608fs)
|
rs1554199392
|
|
|
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
|
|
|
|
NM_022455.5(NSD1):c.4825delinsGA (p.Pro1609fs)
|
rs1057518184
|
|
|
NM_022455.5(NSD1):c.4826C>T (p.Pro1609Leu)
|
rs2149912363
|
|
|
NM_022455.5(NSD1):c.482A>T (p.Asp161Val)
|
|
|
|
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg)
|
rs2149912373
|
|
|
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn)
|
rs1756521704
|
|
|
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser)
|
rs398124378
|
|
|
NM_022455.5(NSD1):c.4844A>G (p.Tyr1615Cys)
|
rs398124378
|
|
|
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
|
rs1756522180
|
|
|
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser)
|
rs587784128
|
|
|
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly)
|
rs587784128
|
|
|
NM_022455.5(NSD1):c.4856G>A (p.Cys1619Tyr)
|
rs1554199411
|
|
|
NM_022455.5(NSD1):c.4860C>T (p.Val1620=)
|
rs1756523594
|
|
|
NM_022455.5(NSD1):c.4865A>G (p.Lys1622Arg)
|
|
|
|
NM_022455.5(NSD1):c.4876A>G (p.Thr1626Ala)
|
|
|
|
NM_022455.5(NSD1):c.487G>A (p.Asp163Asn)
|
|
|
|
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs)
|
rs797045821
|
|
|
NM_022455.5(NSD1):c.4883del (p.Met1628fs)
|
rs2149912535
|
|
|
NM_022455.5(NSD1):c.4890C>G (p.Asn1630Lys)
|
rs2149912553
|
|
|
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)
|
rs587784129
|
|
|
NM_022455.5(NSD1):c.490G>A (p.Val164Ile)
|
|
|
|
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.4919G>A (p.Cys1640Tyr)
|
|
|
|
NM_022455.5(NSD1):c.4921A>G (p.Ile1641Val)
|
rs747482559
|
|
|
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)
|
|
|
|
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs)
|
rs1562265336
|
|
|
NM_022455.5(NSD1):c.4944A>T (p.Pro1648=)
|
|
|
|
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
|
|
|
|
NM_022455.5(NSD1):c.4947C>T (p.Ala1649=)
|
|
|
|
NM_022455.5(NSD1):c.4949_4950del (p.Asn1650fs)
|
rs1554199501
|
|
|
NM_022455.5(NSD1):c.4959A>G (p.Ala1653=)
|
|
|
|
NM_022455.5(NSD1):c.4961C>G (p.Ser1654Cys)
|
|
|
|
NM_022455.5(NSD1):c.4966+1G>A
|
rs587784131
|
|
|
NM_022455.5(NSD1):c.4966+76_4966+77insTTTT
|
rs1343529552
|
|
|
NM_022455.5(NSD1):c.4966+7A>G
|
rs2149912804
|
|
|
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.4966G>T (p.Gly1656Cys)
|
rs587784132
|
|
|
NM_022455.5(NSD1):c.4967-12T>A
|
|
|
|
NM_022455.5(NSD1):c.4967-2A>T
|
rs587784133
|
|
|
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln)
|
rs1756860552
|
|
|
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
|
|
|
|
NM_022455.5(NSD1):c.4977dup (p.Arg1660fs)
|
rs1562269320
|
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
|
NM_022455.5(NSD1):c.4988G>A (p.Arg1663His)
|
rs1562269357
|
|
|
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu)
|
rs2149917734
|
|
|
NM_022455.5(NSD1):c.4995T>C (p.Pro1665=)
|
|
|
|
NM_022455.5(NSD1):c.5007C>G (p.His1669Gln)
|
rs146414176
|
|
|
NM_022455.5(NSD1):c.5009C>G (p.Ala1670Gly)
|
|
|
|
NM_022455.5(NSD1):c.5020del (p.Cys1674fs)
|
rs1581468355
|
|
|
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr)
|
rs587784135
|
|
|
NM_022455.5(NSD1):c.5021G>C (p.Cys1674Ser)
|
rs587784135
|
|
|
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala)
|
|
|
|
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.5066G>C (p.Cys1689Ser)
|
rs1756866850
|
|
|
NM_022455.5(NSD1):c.5066G>T (p.Cys1689Phe)
|
rs1756866850
|
|
|
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)
|
rs1554200207
|
|
|
NM_022455.5(NSD1):c.507C>T (p.Asp169=)
|
rs201012228
|
|
|
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.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
|
NM_022455.5(NSD1):c.5120T>A (p.Val1707Asp)
|
rs2149918094
|
|
|
NM_022455.5(NSD1):c.5121T>C (p.Val1707=)
|
rs1756870315
|
|
|
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)
|
rs2149918110
|
|
|
NM_022455.5(NSD1):c.5129G>T (p.Cys1710Phe)
|
rs1057518133
|
|
|
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter)
|
rs587784138
|
|
|
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)
|
|
|
|
NM_022455.5(NSD1):c.5146+1G>A
|
rs587784139
|
|
|
NM_022455.5(NSD1):c.5146+2dup
|
rs1581468671
|
|
|
NM_022455.5(NSD1):c.5147-12T>G
|
|
|
|
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)
|
|
|
|
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg)
|
rs1562278357
|
|
|
NM_022455.5(NSD1):c.5150G>A (p.Gly1717Asp)
|
rs2149930984
|
|
|
NM_022455.5(NSD1):c.5154C>G (p.Ser1718Arg)
|
rs1043343803
|
|
|
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg)
|
rs1554201713
|
|
|
NM_022455.5(NSD1):c.5180C>A (p.Ala1727Asp)
|
|
|
|
NM_022455.5(NSD1):c.5182G>C (p.Ala1728Pro)
|
rs1057520710
|
|
|
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln)
|
rs2149931088
|
|
|
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr)
|
rs587784140
|
|
|
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)
|
rs587784140
|
|
|
NM_022455.5(NSD1):c.5201T>C (p.Leu1734Pro)
|
|
|
|
NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys)
|
|
|
|
NM_022455.5(NSD1):c.5229G>A (p.Trp1743Ter)
|
rs1554201740
|
|
|
NM_022455.5(NSD1):c.5235C>T (p.Cys1745=)
|
|
|
|
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer)
|
rs1757602433
|
|
|
NM_022455.5(NSD1):c.524C>T (p.Thr175Ile)
|
rs1554167548
|
|
|
NM_022455.5(NSD1):c.5257A>T (p.Lys1753Ter)
|
|
|
|
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)
|
|
|
|
NM_022455.5(NSD1):c.5269A>C (p.Arg1757=)
|
rs1280607631
|
|
|
NM_022455.5(NSD1):c.5273A>G (p.Glu1758Gly)
|
rs1581491894
|
|
|
NM_022455.5(NSD1):c.5276T>C (p.Ile1759Thr)
|
rs1060501498
|
|
|
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
|
NM_022455.5(NSD1):c.5281T>C (p.Trp1761Arg)
|
rs1060501489
|
|
|
NM_022455.5(NSD1):c.5289A>T (p.Lys1763Asn)
|
rs1135401952
|
|
|
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)
|
rs1581491984
|
|
|
NM_022455.5(NSD1):c.529G>A (p.Asp177Asn)
|
|
|
|
NM_022455.5(NSD1):c.5303+113T>G
|
rs10071723
|
|
|
NM_022455.5(NSD1):c.5303+1G>A
|
rs587784141
|
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
|
NM_022455.5(NSD1):c.5303+252del
|
rs35703730
|
|
|
NM_022455.5(NSD1):c.5303+35A>C
|
rs372649300
|
|
|
NM_022455.5(NSD1):c.5303+37C>A
|
rs115164783
|
|
|
NM_022455.5(NSD1):c.530A>G (p.Asp177Gly)
|
rs538618950
|
|
|
NM_022455.5(NSD1):c.549C>T (p.Ile183=)
|
rs758535770
|
|
|
NM_022455.5(NSD1):c.5510-147G>A
|
rs59992310
|
|
|
NM_022455.5(NSD1):c.5510-1G>A
|
|
|
|
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)
|
|
|
|
NM_022455.5(NSD1):c.5521G>C (p.Ala1841Pro)
|
rs1064795720
|
|
|
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val)
|
rs2127241862
|
|
|
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.5566C>T (p.Gln1856Ter)
|
rs587784151
|
|
|
NM_022455.5(NSD1):c.557A>T (p.Glu186Val)
|
rs1756255240
|
|
|
NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs)
|
rs2127241978
|
|
|
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.560C>G (p.Thr187Ser)
|
|
|
|
NM_022455.5(NSD1):c.5612A>G (p.Lys1871Arg)
|
|
|
|
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)
|
|
|
|
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
|
rs587784152
|
|
|
NM_022455.5(NSD1):c.5622+1G>A
|
|
|
|
NM_022455.5(NSD1):c.5623-2A>C
|
rs2127256836
|
|
|
NM_022455.5(NSD1):c.5629C>T (p.Arg1877Cys)
|
|
|
|
NM_022455.5(NSD1):c.5630G>A (p.Arg1877His)
|
rs1554204064
|
|
|
NM_022455.5(NSD1):c.5639G>A (p.Gly1880Asp)
|
rs768219323
|
|
|
NM_022455.5(NSD1):c.5651T>A (p.Ile1884Asn)
|
|
|
|
NM_022455.5(NSD1):c.567C>T (p.Thr189=)
|
rs769162062
|
|
|
NM_022455.5(NSD1):c.5682T>C (p.Arg1894=)
|
|
|
|
NM_022455.5(NSD1):c.5683T>C (p.Cys1895Arg)
|
rs1554204102
|
|
|
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)
|
rs1758796866
|
|
|
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)
|
rs1758797036
|
|
|
NM_022455.5(NSD1):c.5699del (p.Thr1900fs)
|
rs1064793705
|
|
|
NM_022455.5(NSD1):c.569A>T (p.Asn190Ile)
|
|
|
|
NM_022455.5(NSD1):c.56C>T (p.Pro19Leu)
|
rs1756207246
|
|
|
NM_022455.5(NSD1):c.5710C>A (p.Pro1904Thr)
|
|
|
|
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
|
|
|
|
NM_022455.5(NSD1):c.5712del (p.Cys1905fs)
|
rs587784153
|
|
|
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr)
|
rs1554204110
|
|
|
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser)
|
rs1554204110
|
|
|
NM_022455.5(NSD1):c.5721dup (p.Asp1908fs)
|
rs1581527566
|
|
|
NM_022455.5(NSD1):c.5724del (p.Ser1909fs)
|
rs1562292879
|
|
|
NM_022455.5(NSD1):c.5725T>C (p.Ser1909Pro)
|
|
|
|
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer)
|
rs2127257129
|
|
|
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met)
|
rs1562292890
|
|
|
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)
|
rs2127257170
|
|
|
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)
|
|
|
|
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)
|
rs587784155
|
|
|
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro)
|
rs587784155
|
|
|
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu)
|
rs587784155
|
|
|
NM_022455.5(NSD1):c.5751C>G (p.Leu1917=)
|
|
|
|
NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer)
|
rs2127257218
|
|
|
NM_022455.5(NSD1):c.5757G>T (p.Glu1919Asp)
|
rs528069420
|
|
|
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser)
|
rs1554204122
|
|
|
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg)
|
rs1554204122
|
|
|
NM_022455.5(NSD1):c.5766C>T (p.Pro1922=)
|
|
|
|
NM_022455.5(NSD1):c.5768_5769del (p.Thr1923fs)
|
rs1758801009
|
|
|
NM_022455.5(NSD1):c.5769A>C (p.Thr1923=)
|
rs1448380303
|
|
|
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr)
|
rs1758804006
|
|
|
NM_022455.5(NSD1):c.5779G>C (p.Ala1927Pro)
|
rs1554204128
|
|
|
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.5790dup (p.Cys1931fs)
|
rs797045824
|
|
|
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser)
|
rs587784156
|
|
|
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys)
|
rs1758806559
|
|
|
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter)
|
rs587784157
|
|
|
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter)
|
rs587784158
|
|
|
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro)
|
rs587784159
|
|
|
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)
|
rs1581527842
|
|
|
NM_022455.5(NSD1):c.5815C>T (p.Arg1939Cys)
|
rs1064796690
|
|
|
NM_022455.5(NSD1):c.5816G>T (p.Arg1939Leu)
|
|
|
|
NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs)
|
rs2127257484
|
|
|
NM_022455.5(NSD1):c.5827G>A (p.Glu1943Lys)
|
rs2127257497
|
|
|
NM_022455.5(NSD1):c.5836A>G (p.Ile1946Val)
|
|
|
|
NM_022455.5(NSD1):c.583T>G (p.Tyr195Asp)
|
|
|
|
NM_022455.5(NSD1):c.5842C>T (p.Arg1948Cys)
|
rs886041941
|
|
|
NM_022455.5(NSD1):c.5849T>C (p.Leu1950Ser)
|
|
|
|
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter)
|
rs1581527915
|
|
|
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.5858G>C (p.Gly1953Ala)
|
rs2127257578
|
|
|
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
|
|
|
|
NM_022455.5(NSD1):c.585T>C (p.Tyr195=)
|
|
|
|
NM_022455.5(NSD1):c.5862G>A (p.Trp1954Ter)
|
rs587784160
|
|
|
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys)
|
rs587784160
|
|
|
NM_022455.5(NSD1):c.5869C>T (p.Arg1957Trp)
|
rs587784161
|
|
|
NM_022455.5(NSD1):c.5878A>G (p.Thr1960Ala)
|
|
|
|
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr)
|
rs587784162
|
|
|
NM_022455.5(NSD1):c.5890A>G (p.Lys1964Glu)
|
rs2127257672
|
|
|
NM_022455.5(NSD1):c.5892+1G>A
|
rs886039579
|
|
|
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.5893-2A>G
|
rs587784163
|
|
|
NM_022455.5(NSD1):c.5898_5899insG (p.Phe1967fs)
|
rs1554204587
|
|
|
NM_022455.5(NSD1):c.58G>T (p.Val20Leu)
|
rs377302741
|
|
|
NM_022455.5(NSD1):c.5903T>C (p.Val1968Ala)
|
rs1064795059
|
|
|
NM_022455.5(NSD1):c.5903del (p.Val1968fs)
|
rs587784164
|
|
|
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
|
|
|
|
NM_022455.5(NSD1):c.5910G>C (p.Glu1970Asp)
|
rs1554204594
|
|
|
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs)
|
rs587784165
|
|
|
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val)
|
rs587784166
|
|
|
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys)
|
rs587784167
|
|
|
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)
|
rs587784167
|
|
|
NM_022455.5(NSD1):c.5937A>T (p.Glu1979Asp)
|
|
|
|
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter)
|
rs587784168
|
|
|
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.5965C>T (p.Gln1989Ter)
|
rs587784170
|
|
|
NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)
|
|
|
|
NM_022455.5(NSD1):c.5975A>G (p.Asp1992Gly)
|
|
|
|
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=)
|
|
|
|
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His)
|
rs587784171
|
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
|
NM_022455.5(NSD1):c.5992A>G (p.Met1998Val)
|
|
|
|
NM_022455.5(NSD1):c.5994del (p.Met1998fs)
|
rs878855077
|
|
|
NM_022455.5(NSD1):c.5996T>C (p.Leu1999Pro)
|
rs1085307903
|
|
|
NM_022455.5(NSD1):c.5997_5998insT (p.Thr2000fs)
|
rs1562295135
|
|
|
NM_022455.5(NSD1):c.6009+1G>T
|
rs1554204648
|
|
|
NM_022455.5(NSD1):c.6009+3A>C
|
rs2127261070
|
|
|
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>G (p.Arg2005Gly)
|
rs587784173
|
|
|
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.6019A>T (p.Ile2007Phe)
|
rs1057516048
|
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
|
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs)
|
rs1554204923
|
|
|
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val)
|
rs1581535417
|
|
|
NM_022455.5(NSD1):c.6029G>A (p.Gly2010Asp)
|
rs1064795588
|
|
|
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
|
|
|
|
NM_022455.5(NSD1):c.6030del (p.Gly2013fs)
|
|
|
|
NM_022455.5(NSD1):c.6037G>A (p.Gly2013Arg)
|
rs2127262871
|
|
|
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.6063T>A (p.His2021Gln)
|
|
|
|
NM_022455.5(NSD1):c.6066C>T (p.Cys2022=)
|
|
|
|
NM_022455.5(NSD1):c.6068_6151+174del
|
rs2127262979
|
|
|
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter)
|
rs587784179
|
|
|
NM_022455.5(NSD1):c.6075C>T (p.Pro2025=)
|
|
|
|
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser)
|
rs587784180
|
|
|
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile)
|
rs587784181
|
|
|
NM_022455.5(NSD1):c.6087A>T (p.Thr2029=)
|
|
|
|
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)
|
rs1581535570
|
|
|
NM_022455.5(NSD1):c.6089A>C (p.Gln2030Pro)
|
rs1554204952
|
|
|
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs)
|
rs797045826
|
|
|
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys)
|
rs1581535605
|
|
|
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly)
|
rs1554204958
|
|
|
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs)
|
rs797045827
|
|
|
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)
|
rs2127263139
|
|
|
NM_022455.5(NSD1):c.6123C>G (p.Gly2041=)
|
rs1320561007
|
|
|
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg)
|
rs2127263172
|
|
|
NM_022455.5(NSD1):c.6128T>C (p.Phe2043Ser)
|
rs2127263182
|
|
|
NM_022455.5(NSD1):c.6146A>C (p.Lys2049Thr)
|
|
|
|
NM_022455.5(NSD1):c.6151+10A>T
|
|
|
|
NM_022455.5(NSD1):c.6151+18A>T
|
|
|
|
NM_022455.5(NSD1):c.6151+1G>A
|
rs1562296511
|
|
|
NM_022455.5(NSD1):c.6151+1G>T
|
|
|
|
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.6152-5T>G
|
rs755758018
|
|
|
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter)
|
rs587784183
|
|
|
NM_022455.5(NSD1):c.6158A>C (p.Glu2053Ala)
|
rs1131691321
|
|
|
NM_022455.5(NSD1):c.6165del (p.Phe2056fs)
|
rs587784184
|
|
|
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.6176A>G (p.Asn2059Ser)
|
|
|
|
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)
|
|
|
|
NM_022455.5(NSD1):c.6184T>C (p.Cys2062Arg)
|
|
|
|
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met)
|
rs1759549616
|
|
|
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs)
|
rs1759550773
|
|
|
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg)
|
rs1759551453
|
|
|
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)
|
rs1759551453
|
|
|
NM_022455.5(NSD1):c.6216T>G (p.Cys2072Trp)
|
|
|
|
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs)
|
rs797045828
|
|
|
NM_022455.5(NSD1):c.622G>A (p.Gly208Arg)
|
rs1581091469
|
|
|
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)
|
rs1581548112
|
|
|
NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)
|
|
|
|
NM_022455.5(NSD1):c.6258+1G>A
|
rs587784185
|
|
|
NM_022455.5(NSD1):c.6258+1G>T
|
rs587784185
|
|
|
NM_022455.5(NSD1):c.6258G>T (p.Lys2086Asn)
|
rs1581548127
|
|
|
NM_022455.5(NSD1):c.6259-4G>T
|
rs764710462
|
|
|
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.6290dup (p.Lys2098fs)
|
rs797045829
|
|
|
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs)
|
rs2127276046
|
|
|
NM_022455.5(NSD1):c.6291del (p.Lys2098fs)
|
rs587784186
|
|
|
NM_022455.5(NSD1):c.6294del (p.Lys2098fs)
|
rs2127276076
|
|
|
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter)
|
rs587784187
|
|
|
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs)
|
rs797045830
|
|
|
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)
|
rs587784188
|
|
|
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs)
|
rs587784189
|
|
|
NM_022455.5(NSD1):c.6314G>A (p.Gly2105Glu)
|
|
|
|
NM_022455.5(NSD1):c.6317del (p.Lys2106fs)
|
rs1562305497
|
|
|
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter)
|
rs1554206783
|
|
|
NM_022455.5(NSD1):c.6341C>G (p.Thr2114Arg)
|
rs914580476
|
|
|
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs)
|
rs797045831
|
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
|
NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn)
|
|
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
|
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter)
|
rs1581558015
|
|
|
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)
|
rs1562305653
|
|
|
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)
|
rs587784192
|
|
|
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly)
|
rs1562305665
|
|
|
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val)
|
rs587784193
|
|
|
NM_022455.5(NSD1):c.6385C>G (p.Gln2129Glu)
|
rs1562305721
|
|
|
NM_022455.5(NSD1):c.6391dup (p.Val2131fs)
|
rs2127276417
|
|
|
NM_022455.5(NSD1):c.6393C>G (p.Val2131=)
|
rs587784194
|
|
|
NM_022455.5(NSD1):c.6397T>C (p.Cys2133Arg)
|
|
|
|
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
|
|
|
|
NM_022455.5(NSD1):c.6412T>C (p.Cys2138Arg)
|
rs1064795734
|
|
|
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)
|
rs587784195
|
|
|
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser)
|
rs587784195
|
|
|
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu)
|
rs587784196
|
|
|
NM_022455.5(NSD1):c.641C>T (p.Thr214Ile)
|
rs1208967470
|
|
|
NM_022455.5(NSD1):c.6421del (p.Val2141fs)
|
rs587784197
|
|
|
NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp)
|
rs1562305920
|
|
|
NM_022455.5(NSD1):c.6425A>C (p.Tyr2142Ser)
|
rs1057518051
|
|
|
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)
|
rs1060501493
|
|
|
NM_022455.5(NSD1):c.6429C>G (p.His2143Gln)
|
rs121908068
|
|
|
NM_022455.5(NSD1):c.642A>C (p.Thr214=)
|
|
|
|
NM_022455.5(NSD1):c.6430G>A (p.Ala2144Thr)
|
rs761103348
|
|
|
NM_022455.5(NSD1):c.6431del (p.Ala2144fs)
|
rs587784198
|
|
|
NM_022455.5(NSD1):c.6432A>G (p.Ala2144=)
|
rs757619678
|
|
|
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg)
|
rs1759885769
|
|
|
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr)
|
rs1554206834
|
|
|
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)
|
rs1554206836
|
|
|
NM_022455.5(NSD1):c.6440dup (p.Asn2148fs)
|
rs886042725
|
|
|
NM_022455.5(NSD1):c.6443A>G (p.Asn2148Ser)
|
rs2127276605
|
|
|
NM_022455.5(NSD1):c.6450dup (p.Lys2151fs)
|
rs864309639
|
|
|
NM_022455.5(NSD1):c.6454C>G (p.Arg2152Gly)
|
rs587784199
|
|
|
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.6455dup (p.Pro2153fs)
|
rs2127276655
|
|
|
NM_022455.5(NSD1):c.6459_6463+5del
|
rs797045832
|
|
|
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.6464-13T>C
|
|
|
|
NM_022455.5(NSD1):c.6464-1G>A
|
rs1760055914
|
|
|
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.6472G>T (p.Glu2158Ter)
|
rs587784201
|
|
|
NM_022455.5(NSD1):c.6474_6476del (p.Glu2158_Cys2159delinsAsp)
|
|
|
|
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser)
|
rs1760056582
|
|
|
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg)
|
rs1760056582
|
|
|
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr)
|
rs587784202
|
|
|
NM_022455.5(NSD1):c.6479C>T (p.Pro2160Leu)
|
|
|
|
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro)
|
rs587784204
|
|
|
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln)
|
rs2127279165
|
|
|
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter)
|
rs1060501494
|
|
|
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs)
|
rs1760057409
|
|
|
NM_022455.5(NSD1):c.6488del (p.Gln2163fs)
|
rs2127279186
|
|
|
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)
|
rs1760058101
|
|
|
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.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
|
NM_022455.5(NSD1):c.6501C>A (p.Cys2167Ter)
|
|
|
|
NM_022455.5(NSD1):c.6502G>A (p.Gly2168Arg)
|
|
|
|
NM_022455.5(NSD1):c.6504_6512del (p.Lys2169_Ala2171del)
|
|
|
|
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>A (p.Cys2175Tyr)
|
rs1581562963
|
|
|
NM_022455.5(NSD1):c.6524G>T (p.Cys2175Phe)
|
rs1581562963
|
|
|
NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg)
|
rs2127279302
|
|
|
NM_022455.5(NSD1):c.6533G>A (p.Cys2178Tyr)
|
rs398124382
|
|
|
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)
|
rs398124382
|
|
|
NM_022455.5(NSD1):c.6537dup (p.Ser2180fs)
|
rs879253860
|
|
|
NM_022455.5(NSD1):c.6538_6539insC (p.Ser2180fs)
|
rs398124383
|
|
|
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs)
|
rs587784207
|
|
|
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr)
|
|
|
|
NM_022455.5(NSD1):c.6542C>T (p.Ser2181Phe)
|
rs2127279367
|
|
|
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer)
|
rs797045833
|
|
|
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
|
rs1760062897
|
|
|
NM_022455.5(NSD1):c.6547T>A (p.Cys2183Ser)
|
|
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
|
NM_022455.5(NSD1):c.6548G>C (p.Cys2183Ser)
|
rs121908069
|
|
|
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)
|
rs1581563059
|
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
|
NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs)
|
|
|
|
NM_022455.5(NSD1):c.658G>T (p.Gly220Cys)
|
rs755449099
|
|
|
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del)
|
rs1756266305
|
|
|
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser)
|
rs587784210
|
|
|
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr)
|
rs121908071
|
|
|
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)
|
|
|
|
NM_022455.5(NSD1):c.6606T>C (p.Cys2202=)
|
|
|
|
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr)
|
rs1554207316
|
|
|
NM_022455.5(NSD1):c.6614A>C (p.His2205Pro)
|
rs2127279532
|
|
|
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
|
|
|
|
NM_022455.5(NSD1):c.661G>T (p.Ala221Ser)
|
|
|
|
NM_022455.5(NSD1):c.6620C>T (p.Pro2207Leu)
|
|
|
|
NM_022455.5(NSD1):c.6625G>C (p.Gly2209Arg)
|
|
|
|
NM_022455.5(NSD1):c.6625G>T (p.Gly2209Trp)
|
rs1760067330
|
|
|
NM_022455.5(NSD1):c.662C>T (p.Ala221Val)
|
rs1057524420
|
|
|
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del)
|
rs587784211
|
|
|
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser)
|
rs2127279586
|
|
|
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
|
|
|
|
NM_022455.5(NSD1):c.6636T>C (p.Pro2212=)
|
|
|
|
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val)
|
rs587784212
|
|
|
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.6647G>A (p.Gly2216Glu)
|
rs1760068807
|
|
|
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)
|
rs1760069281
|
|
|
NM_022455.5(NSD1):c.6654C>G (p.Ile2218Met)
|
|
|
|
NM_022455.5(NSD1):c.6655C>T (p.Arg2219Cys)
|
rs2127279650
|
|
|
NM_022455.5(NSD1):c.6655del (p.Arg2219fs)
|
rs2127279646
|
|
|
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His)
|
rs587784214
|
|
|
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)
|
rs755013078
|
|
|
NM_022455.5(NSD1):c.6681G>A (p.Pro2227=)
|
|
|
|
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro)
|
rs1760072488
|
|
|
NM_022455.5(NSD1):c.6701C>G (p.Thr2234Ser)
|
|
|
|
NM_022455.5(NSD1):c.6722C>T (p.Thr2241Ile)
|
|
|
|
NM_022455.5(NSD1):c.672G>A (p.Ser224=)
|
rs1320622588
|
|
|
NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)
|
|
|
|
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=)
|
rs587784215
|
|
|
NM_022455.5(NSD1):c.6760CCT[1] (p.Pro2255del)
|
|
|
|
NM_022455.5(NSD1):c.6767C>G (p.Ala2256Gly)
|
rs2127280001
|
|
|
NM_022455.5(NSD1):c.6787T>A (p.Ser2263Thr)
|
|
|
|
NM_022455.5(NSD1):c.6804T>G (p.Ala2268=)
|
|
|
|
NM_022455.5(NSD1):c.6818G>C (p.Cys2273Ser)
|
|
|
|
NM_022455.5(NSD1):c.6824G>A (p.Arg2275Lys)
|
|
|
|
NM_022455.5(NSD1):c.6829T>A (p.Leu2277Met)
|
rs28580074
|
|
|
NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu)
|
|
|
|
NM_022455.5(NSD1):c.6845C>T (p.Pro2282Leu)
|
|
|
|
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)
|
|
|
|
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr)
|
rs2127280285
|
|
|
NM_022455.5(NSD1):c.6889A>G (p.Arg2297Gly)
|
|
|
|
NM_022455.5(NSD1):c.6898G>A (p.Ala2300Thr)
|
|
|
|
NM_022455.5(NSD1):c.6899C>G (p.Ala2300Gly)
|
|
|
|
NM_022455.5(NSD1):c.6899del (p.Ala2300fs)
|
rs1581564208
|
|
|
NM_022455.5(NSD1):c.6905C>T (p.Ser2302Leu)
|
|
|
|
NM_022455.5(NSD1):c.6909G>A (p.Gly2303=)
|
|
|
|
NM_022455.5(NSD1):c.6920A>C (p.Gln2307Pro)
|
rs2127280443
|
|
|
NM_022455.5(NSD1):c.6965dup (p.Ala2323fs)
|
rs1057517998
|
|
|
NM_022455.5(NSD1):c.6967G>T (p.Ala2323Ser)
|
|
|
|
NM_022455.5(NSD1):c.6971G>C (p.Gly2324Ala)
|
|
|
|
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu)
|
rs1581564675
|
|
|
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe)
|
rs1319472971
|
|
|
NM_022455.5(NSD1):c.7024T>C (p.Ser2342Pro)
|
rs752927515
|
|
|
NM_022455.5(NSD1):c.7033G>T (p.Val2345Phe)
|
rs398124384
|
|
|
NM_022455.5(NSD1):c.7041C>G (p.Ser2347=)
|
|
|
|
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser)
|
|
|
|
NM_022455.5(NSD1):c.7046C>G (p.Pro2349Arg)
|
|
|
|
NM_022455.5(NSD1):c.7067C>T (p.Thr2356Met)
|
|
|
|
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu)
|
rs1756273326
|
|
|
NM_022455.5(NSD1):c.7115C>A (p.Pro2372His)
|
rs1057522686
|
|
|
NM_022455.5(NSD1):c.7122A>T (p.Ser2374=)
|
|
|
|
NM_022455.5(NSD1):c.7126G>A (p.Glu2376Lys)
|
|
|
|
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)
|
rs765876148
|
|
|
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys)
|
rs1554207664
|
|
|
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala)
|
rs1416255762
|
|
|
NM_022455.5(NSD1):c.7163C>T (p.Pro2388Leu)
|
|
|
|
NM_022455.5(NSD1):c.717G>A (p.Lys239=)
|
|
|
|
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val)
|
rs1554207690
|
|
|
NM_022455.5(NSD1):c.7182T>C (p.Ile2394=)
|
rs1760115755
|
|
|
NM_022455.5(NSD1):c.7218T>C (p.Pro2406=)
|
|
|
|
NM_022455.5(NSD1):c.7219A>G (p.Thr2407Ala)
|
rs1057524329
|
|
|
NM_022455.5(NSD1):c.7220C>G (p.Thr2407Ser)
|
|
|
|
NM_022455.5(NSD1):c.7227dup (p.Pro2410fs)
|
rs2127282070
|
|
|
NM_022455.5(NSD1):c.7234G>T (p.Ala2412Ser)
|
|
|
|
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)
|
|
|
|
NM_022455.5(NSD1):c.7259C>T (p.Pro2420Leu)
|
rs1271164466
|
|
|
NM_022455.5(NSD1):c.7264G>C (p.Glu2422Gln)
|
|
|
|
NM_022455.5(NSD1):c.7321C>G (p.Pro2441Ala)
|
|
|
|
NM_022455.5(NSD1):c.7329C>T (p.Asp2443=)
|
|
|
|
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr)
|
rs200115665
|
|
|
NM_022455.5(NSD1):c.7356T>C (p.Ala2452=)
|
|
|
|
NM_022455.5(NSD1):c.736G>T (p.Gly246Cys)
|
rs1156510513
|
|
|
NM_022455.5(NSD1):c.7390C>T (p.Arg2464Cys)
|
|
|
|
NM_022455.5(NSD1):c.7398G>A (p.Lys2466=)
|
rs2127282700
|
|
|
NM_022455.5(NSD1):c.7401G>A (p.Glu2467=)
|
|
|
|
NM_022455.5(NSD1):c.7405del (p.Ala2469fs)
|
rs2127282737
|
|
|
NM_022455.5(NSD1):c.7410T>C (p.Ala2470=)
|
|
|
|
NM_022455.5(NSD1):c.7419T>G (p.His2473Gln)
|
|
|
|
NM_022455.5(NSD1):c.7433A>G (p.Gln2478Arg)
|
|
|
|
NM_022455.5(NSD1):c.7454T>C (p.Val2485Ala)
|
|
|
|
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.7540C>T (p.Gln2514Ter)
|
|
|
|
NM_022455.5(NSD1):c.7551del (p.Ala2519fs)
|
|
|
|
NM_022455.5(NSD1):c.7554AGC[2] (p.Ala2521del)
|
|
|
|
NM_022455.5(NSD1):c.7560A>G (p.Ala2520=)
|
rs587784218
|
|
|
NM_022455.5(NSD1):c.7568C>T (p.Ser2523Leu)
|
|
|
|
NM_022455.5(NSD1):c.7573G>C (p.Asp2525His)
|
|
|
|
NM_022455.5(NSD1):c.757C>G (p.Leu253Val)
|
|
|
|
NM_022455.5(NSD1):c.7595C>T (p.Ser2532Leu)
|
|
|
|
NM_022455.5(NSD1):c.7596A>G (p.Ser2532=)
|
rs2127283671
|
|
|
NM_022455.5(NSD1):c.7603del (p.Gln2535fs)
|
rs2127283690
|
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NM_022455.5(NSD1):c.7604A>G (p.Gln2535Arg)
|
rs2127283711
|
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NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val)
|
rs1760151289
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NM_022455.5(NSD1):c.7632C>T (p.Ala2544=)
|
rs886042468
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NM_022455.5(NSD1):c.7638del (p.Leu2548fs)
|
rs2127283800
|
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NM_022455.5(NSD1):c.7643T>C (p.Leu2548Ser)
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|
|
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NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys)
|
rs1180593710
|
|
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NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr)
|
rs1450153384
|
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NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg)
|
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NM_022455.5(NSD1):c.7669G>C (p.Gly2557Arg)
|
rs1156867352
|
|
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NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
|
|
|
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NM_022455.5(NSD1):c.7684G>C (p.Gly2562Arg)
|
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NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter)
|
rs749416834
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NM_022455.5(NSD1):c.769C>T (p.Pro257Ser)
|
rs1756280868
|
|
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NM_022455.5(NSD1):c.7700C>G (p.Pro2567Arg)
|
|
|
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NM_022455.5(NSD1):c.7706C>G (p.Pro2569Arg)
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NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu)
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NM_022455.5(NSD1):c.7722G>A (p.Pro2574=)
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NM_022455.5(NSD1):c.7748del (p.Met2583fs)
|
rs1562311573
|
|
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NM_022455.5(NSD1):c.7752C>T (p.Val2584=)
|
rs1175003950
|
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NM_022455.5(NSD1):c.7757G>A (p.Gly2586Asp)
|
|
|
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NM_022455.5(NSD1):c.7765C>T (p.Leu2589=)
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NM_022455.5(NSD1):c.7768C>G (p.Pro2590Ala)
|
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NM_022455.5(NSD1):c.7778C>A (p.Ala2593Asp)
|
|
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|
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter)
|
rs797045834
|
|
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NM_022455.5(NSD1):c.7799T>C (p.Phe2600Ser)
|
|
|
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NM_022455.5(NSD1):c.7809C>T (p.Leu2603=)
|
rs769301382
|
|
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NM_022455.5(NSD1):c.7810G>A (p.Gly2604Arg)
|
|
|
|
NM_022455.5(NSD1):c.7831C>G (p.Pro2611Ala)
|
|
|
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NM_022455.5(NSD1):c.7870C>A (p.Pro2624Thr)
|
rs1286859534
|
|
|
NM_022455.5(NSD1):c.7876dup (p.Ala2626fs)
|
|
|
|
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
|
|
|
|
NM_022455.5(NSD1):c.788_789del (p.Thr263fs)
|
rs1756282703
|
|
|
NM_022455.5(NSD1):c.7892C>G (p.Ser2631Ter)
|
rs758339424
|
|
|
NM_022455.5(NSD1):c.7905G>A (p.Gly2635=)
|
|
|
|
NM_022455.5(NSD1):c.7914C>T (p.Pro2638=)
|
rs781650846
|
|
|
NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val)
|
rs1371700950
|
|
|
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs)
|
rs587784219
|
|
|
NM_022455.5(NSD1):c.793A>G (p.Ile265Val)
|
rs771587260
|
|
|
NM_022455.5(NSD1):c.7942_7980del (p.Ser2648_Gln2660del)
|
rs762472610
|
|
|
NM_022455.5(NSD1):c.7948T>C (p.Trp2650Arg)
|
|
|
|
NM_022455.5(NSD1):c.7949_7950delinsTT (p.Trp2650Phe)
|
rs2127285025
|
|
|
NM_022455.5(NSD1):c.7952CTG[1] (p.Ala2652del)
|
rs2127285052
|
|
|
NM_022455.5(NSD1):c.7955C>T (p.Ala2652Val)
|
rs886038676
|
|
|
NM_022455.5(NSD1):c.7966C>T (p.Gln2656Ter)
|
rs797045058
|
|
|
NM_022455.5(NSD1):c.7968_7971del (p.Gln2656fs)
|
rs1562312238
|
|
|
NM_022455.5(NSD1):c.7974G>C (p.Leu2658Phe)
|
|
|
|
NM_022455.5(NSD1):c.7976C>T (p.Ala2659Val)
|
rs1562312270
|
|
|
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)
|
|
|
|
NM_022455.5(NSD1):c.7995T>C (p.Leu2665=)
|
|
|
|
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg)
|
rs1554208207
|
|
|
NM_022455.5(NSD1):c.8032C>G (p.Leu2678Val)
|
rs2127285369
|
|
|
NM_022455.5(NSD1):c.8034del (p.Pro2679fs)
|
rs1064794033
|
|
|
NM_022455.5(NSD1):c.8036del (p.Pro2679fs)
|
rs587784220
|
|
|
NM_022455.5(NSD1):c.8043del (p.Asn2682fs)
|
rs587784221
|
|
|
NM_022455.5(NSD1):c.8045del (p.Asn2682fs)
|
|
|
|
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.880_881del (p.Glu294fs)
|
rs1060501492
|
|
|
NM_022455.5(NSD1):c.887C>A (p.Pro296His)
|
|
|
|
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg)
|
rs1189702665
|
|
|
NM_022455.5(NSD1):c.890G>C (p.Gly297Ala)
|
rs1709968423
|
|
|
NM_022455.5(NSD1):c.896del (p.Ser299fs)
|
rs1562099585
|
|
|
NM_022455.5(NSD1):c.897A>T (p.Ser299=)
|
|
|
|
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.922C>G (p.Pro308Ala)
|
|
|
|
NM_022455.5(NSD1):c.927+3A>T
|
|
|
|
NM_022455.5(NSD1):c.927+5G>A
|
rs2149757213
|
|
|
NM_022455.5(NSD1):c.928-8G>C
|
rs1761722744
|
|
|
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
|
|
|
|
NM_022455.5(NSD1):c.936T>G (p.Pro312=)
|
rs1581254248
|
|
|
NM_022455.5(NSD1):c.950C>T (p.Thr317Met)
|
|
|
|
NM_022455.5(NSD1):c.951G>A (p.Thr317=)
|
|
|
|
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)
|
|
|
|
NM_022455.5(NSD1):c.97G>A (p.Gly33Ser)
|
|
|
|
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter)
|
rs1554185405
|
|
|
NM_022455.5(NSD1):c.985G>A (p.Ala329Thr)
|
rs1761726567
|
|
|
Single allele
|
|
|