ClinVar Miner

List of variants in gene NSD1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 614
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.3796+108C>G rs6556305 0.91525
NM_022455.5(NSD1):c.1064-137T>C rs7721671 0.83210
NM_022455.5(NSD1):c.5622+100G>A rs12660023 0.63274
NM_022455.5(NSD1):c.6464-67A>G rs6872201 0.45885
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36334
NM_022455.5(NSD1):c.-18+160T>C rs3733873 0.33912
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) rs11740250 0.16701
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) rs28932178 0.15259
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) rs3733874 0.12785
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) rs3733875 0.12636
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) rs28932181 0.10490
NM_022455.5(NSD1):c.1237-246G>A rs141260503 0.10468
NM_022455.5(NSD1):c.4766-158A>G rs6890368 0.08903
NM_022455.5(NSD1):c.4966+81T>C rs6872392 0.08417
NM_022455.5(NSD1):c.5622+187C>T rs112423577 0.08318
NM_022455.5(NSD1):c.5147-82T>A rs10071491 0.08311
NM_022455.5(NSD1):c.5893-133G>A rs72813176 0.06049
NM_022455.5(NSD1):c.5147-294T>C rs60761205 0.04831
NM_022455.5(NSD1):c.6463+196G>A rs11953271 0.04797
NM_022455.5(NSD1):c.6010-104G>A rs77309295 0.04791
NM_022455.5(NSD1):c.5623-22G>A rs79098301 0.04787
NM_022455.5(NSD1):c.4967-160T>G rs76796411 0.04785
NM_022455.5(NSD1):c.5304-183A>G rs75441502 0.04785
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_022455.5(NSD1):c.3797-248T>A rs75737978 0.04784
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04781
NM_022455.5(NSD1):c.6464-289del rs565213549 0.03943
NM_022455.5(NSD1):c.4966+77C>T rs550169914 0.03820
NM_022455.5(NSD1):c.4765+90G>A rs56991691 0.02827
NM_022455.5(NSD1):c.1064-194T>C rs10475644 0.02825
NM_022455.5(NSD1):c.4766-196C>T rs116835936 0.02822
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_022455.5(NSD1):c.4967-175G>T rs80104688 0.02601
NM_022455.5(NSD1):c.1237-87dup rs149092444 0.02433
NM_022455.5(NSD1):c.3796+292del rs1354272502 0.02302
NM_022455.5(NSD1):c.4641+98A>G rs12055154 0.02194
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_022455.5(NSD1):c.6010-162T>G rs78504286 0.02032
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_022455.5(NSD1):c.927+48A>G rs79928962 0.01809
NM_022455.5(NSD1):c.3796+290del rs1562214821 0.01527
NM_022455.5(NSD1):c.5510-112G>A rs59258749 0.01246
NM_022455.5(NSD1):c.4302+252G>C rs115723131 0.00836
NM_022455.5(NSD1):c.4966+160A>G rs139502611 0.00827
NM_022455.5(NSD1):c.3796+21dup rs552714235 0.00822
NM_022455.5(NSD1):c.6152-171T>C rs79027751 0.00812
NM_022455.5(NSD1):c.5146+255T>C rs192689485 0.00701
NM_022455.5(NSD1):c.6259-59G>A rs76116584 0.00687
NM_022455.5(NSD1):c.4497+141A>G rs71601347 0.00669
NM_022455.5(NSD1):c.3797-66C>A rs114246039 0.00632
NM_022455.5(NSD1):c.6463+250C>A rs537540896 0.00621
NM_022455.5(NSD1):c.4302+133A>G rs114680977 0.00589
NM_022455.5(NSD1):c.6151+137G>A rs115143521 0.00513
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_022455.5(NSD1):c.5510-286del rs201566409 0.00457
NM_022455.5(NSD1):c.-17-106A>G rs73806730 0.00454
NM_022455.5(NSD1):c.5304-190T>G rs73806745 0.00454
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_022455.5(NSD1):c.3797-283T>C rs116559875 0.00452
NM_022455.5(NSD1):c.4497+329dup rs201565305 0.00452
NM_022455.5(NSD1):c.5146+84T>C rs141637983 0.00451
NM_022455.5(NSD1):c.-17-340C>T rs116419640 0.00450
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_022455.5(NSD1):c.5147-49A>C rs74436451 0.00398
NM_022455.5(NSD1):c.6151+221A>G rs137945358 0.00349
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_022455.5(NSD1):c.4378+26C>T rs139601377 0.00189
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) rs148891711 0.00173
NM_022455.5(NSD1):c.6009+201_6009+203dup rs558016724 0.00164
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_022455.5(NSD1):c.6464-20A>G rs371359117 0.00130
NM_022455.5(NSD1):c.5147-45C>G rs201065957 0.00103
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_022455.5(NSD1):c.3922-40A>G rs79222656 0.00056
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_022455.5(NSD1):c.1064-32C>G rs368549002 0.00050
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_022455.5(NSD1):c.4379-15A>G rs143520065 0.00036
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser) rs148839758 0.00034
NM_022455.5(NSD1):c.639C>T (p.Ser213=) rs755931458 0.00032
NM_022455.5(NSD1):c.4497+52C>T rs372432409 0.00031
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) rs143571876 0.00024
NM_022455.5(NSD1):c.4966+30T>C rs75429143 0.00023
NM_022455.5(NSD1):c.2861A>C (p.Lys954Thr) rs555067830 0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) rs371958844 0.00021
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) rs141065357 0.00020
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) rs199574095 0.00020
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_022455.5(NSD1):c.6464-5T>C rs545039997 0.00019
NM_022455.5(NSD1):c.6464-8G>T rs577262396 0.00019
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn) rs772981865 0.00019
NM_022455.5(NSD1):c.2427G>A (p.Glu809=) rs61744224 0.00018
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) rs200115665 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615 0.00015
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=) rs201312975 0.00014
NM_022455.5(NSD1):c.7057C>T (p.Pro2353Ser) rs758794360 0.00013
NM_022455.5(NSD1):c.5303+23A>G rs375503261 0.00012
NM_022455.5(NSD1):c.6276G>A (p.Thr2092=) rs138041618 0.00012
NM_022455.5(NSD1):c.7933C>T (p.Leu2645=) rs61730553 0.00012
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_022455.5(NSD1):c.4192+48A>T rs753269790 0.00011
NM_022455.5(NSD1):c.1317C>T (p.Asn439=) rs150421873 0.00010
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) rs763399938 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.4966+6G>A rs373129093 0.00010
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala) rs375051877 0.00009
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) rs747298351 0.00009
NM_022455.5(NSD1):c.6429C>T (p.His2143=) rs121908068 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys) rs377684553 0.00008
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_022455.5(NSD1):c.1095C>T (p.Tyr365=) rs200080728 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_022455.5(NSD1):c.3090G>T (p.Leu1030Phe) rs201860097 0.00007
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg) rs142544192 0.00006
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) rs143705256 0.00006
NM_022455.5(NSD1):c.4642-7T>C rs183928380 0.00006
NM_022455.5(NSD1):c.6258+47C>G rs187713824 0.00006
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.3741G>A (p.Met1247Ile) rs760307871 0.00005
NM_022455.5(NSD1):c.4303-4A>G rs775759198 0.00005
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=) rs756321444 0.00005
NM_022455.5(NSD1):c.7251A>T (p.Arg2417Ser) rs776952596 0.00005
NM_022455.5(NSD1):c.1782T>C (p.Pro594=) rs200002555 0.00004
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) rs374740802 0.00004
NM_022455.5(NSD1):c.2425G>A (p.Glu809Lys) rs371421105 0.00004
NM_022455.5(NSD1):c.2766G>A (p.Thr922=) rs369705297 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.3540A>G (p.Lys1180=) rs776683728 0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_022455.5(NSD1):c.5007C>T (p.His1669=) rs146414176 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_022455.5(NSD1):c.708G>C (p.Gln236His) rs28932175 0.00004
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433 0.00004
NM_022455.5(NSD1):c.7367T>C (p.Met2456Thr) rs761179792 0.00004
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile) rs373787813 0.00004
NM_022455.5(NSD1):c.1770A>G (p.Leu590=) rs398124373 0.00003
NM_022455.5(NSD1):c.1830A>G (p.Gln610=) rs759706066 0.00003
NM_022455.5(NSD1):c.2032A>G (p.Met678Val) rs773904155 0.00003
NM_022455.5(NSD1):c.2765C>T (p.Thr922Met) rs753460351 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3307G>A (p.Asp1103Asn) rs746210838 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_022455.5(NSD1):c.3588G>T (p.Val1196=) rs549662786 0.00003
NM_022455.5(NSD1):c.3764G>A (p.Ser1255Asn) rs1389749444 0.00003
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=) rs745760201 0.00003
NM_022455.5(NSD1):c.6788C>T (p.Ser2263Leu) rs373571733 0.00003
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) rs770522999 0.00003
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu) rs201609442 0.00003
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr) rs587784075 0.00002
NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly) rs1046371505 0.00002
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) rs774810620 0.00002
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu) rs773591859 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_022455.5(NSD1):c.5892+26A>G rs760933594 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_022455.5(NSD1):c.7164G>A (p.Pro2388=) rs780619128 0.00002
NM_022455.5(NSD1):c.7562C>A (p.Ala2521Asp) rs775806970 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr) rs756449994 0.00001
NM_022455.5(NSD1):c.1716C>T (p.Ser572=) rs375093905 0.00001
NM_022455.5(NSD1):c.1894C>A (p.Arg632=) rs1481136060 0.00001
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) rs754514832 0.00001
NM_022455.5(NSD1):c.2103G>A (p.Lys701=) rs727504053 0.00001
NM_022455.5(NSD1):c.2345G>A (p.Ser782Asn) rs769773081 0.00001
NM_022455.5(NSD1):c.2748T>G (p.Asp916Glu) rs1268847680 0.00001
NM_022455.5(NSD1):c.293A>T (p.Gln98Leu) rs779850742 0.00001
NM_022455.5(NSD1):c.2985A>G (p.Leu995=) rs398124376 0.00001
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His) rs750354456 0.00001
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala) rs727504054 0.00001
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg) rs143406017 0.00001
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His) rs111638717 0.00001
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=) rs398124377 0.00001
NM_022455.5(NSD1):c.3657A>G (p.Thr1219=) rs886060442 0.00001
NM_022455.5(NSD1):c.3766T>A (p.Leu1256Met) rs1276998178 0.00001
NM_022455.5(NSD1):c.3836A>G (p.Lys1279Arg) rs1765400330 0.00001
NM_022455.5(NSD1):c.383A>G (p.Gln128Arg) rs764617265 0.00001
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp) rs1765619618 0.00001
NM_022455.5(NSD1):c.4724A>T (p.Glu1575Val) rs1237319595 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154 0.00001
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=) rs771993179 0.00001
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile) rs1240149522 0.00001
NM_022455.5(NSD1):c.7072G>C (p.Asp2358His) rs144023511 0.00001
NM_022455.5(NSD1):c.7137A>G (p.Ser2379=) rs762447935 0.00001
NM_022455.5(NSD1):c.7487G>T (p.Gly2496Val) rs556993869 0.00001
NM_022455.5(NSD1):c.7631C>T (p.Ala2544Val) rs758398402 0.00001
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val) rs755285941 0.00001
NM_022455.5(NSD1):c.7742A>G (p.Lys2581Arg) rs398124387 0.00001
NM_022455.5(NSD1):c.7753G>A (p.Gly2585Arg) rs140839289 0.00001
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=) rs398124388 0.00001
NM_022455.5(NSD1):c.7780G>A (p.Ala2594Thr) rs146010779 0.00001
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr) rs188326949 0.00001
GRCh37/hg19 5q35.2-35.3(chr5:176582117-176600839)x1
GRCh37/hg19 5q35.3(chr5:176639461-176645012)x3
NM_022455.5(NSD1):c.1034_1037dup (p.Leu346fs) rs2149821358
NM_022455.5(NSD1):c.1047A>G (p.Thr349=) rs1581254386
NM_022455.5(NSD1):c.1052C>G (p.Ser351Ter) rs1761728622
NM_022455.5(NSD1):c.105T>G (p.Gly35=) rs2149755343
NM_022455.5(NSD1):c.1064-5C>A rs961502921
NM_022455.5(NSD1):c.1089G>A (p.Gln363=)
NM_022455.5(NSD1):c.1096G>A (p.Val366Met) rs1172667661
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg) rs1762711811
NM_022455.5(NSD1):c.1204G>C (p.Gly402Arg) rs1762715103
NM_022455.5(NSD1):c.1212_1213del (p.Lys405fs) rs886041217
NM_022455.5(NSD1):c.1216_1219del (p.Glu406fs) rs2149836382
NM_022455.5(NSD1):c.1236+5G>A
NM_022455.5(NSD1):c.1236+9C>A rs886042263
NM_022455.5(NSD1):c.1237-108C>A rs1407014054
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.1237-92del rs560987364
NM_022455.5(NSD1):c.1237-92dup rs560987364
NM_022455.5(NSD1):c.1260A>G (p.Lys420=) rs1397377820
NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter) rs367809750
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter) rs121908067
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter) rs1270264665
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr) rs1763180633
NM_022455.5(NSD1):c.1327_1328del (p.Ile443fs) rs1581314832
NM_022455.5(NSD1):c.1331del (p.Pro444fs) rs2149842659
NM_022455.5(NSD1):c.1338A>T (p.Ser446=) rs2149842674
NM_022455.5(NSD1):c.1372G>A (p.Glu458Lys)
NM_022455.5(NSD1):c.1372G>C (p.Glu458Gln) rs2149842728
NM_022455.5(NSD1):c.1397C>G (p.Ser466Ter) rs1057520581
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter) rs1336273625
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.5(NSD1):c.1499G>C (p.Arg500Thr) rs867877508
NM_022455.5(NSD1):c.153G>A (p.Ser51=) rs727504052
NM_022455.5(NSD1):c.1554T>G (p.Phe518Leu)
NM_022455.5(NSD1):c.1562A>G (p.His521Arg)
NM_022455.5(NSD1):c.1621G>A (p.Asp541Asn)
NM_022455.5(NSD1):c.1676C>T (p.Thr559Ile)
NM_022455.5(NSD1):c.1694C>T (p.Pro565Leu)
NM_022455.5(NSD1):c.1711T>G (p.Ser571Ala)
NM_022455.5(NSD1):c.1739_1740del (p.Lys580fs) rs1064796222
NM_022455.5(NSD1):c.173A>G (p.Gln58Arg)
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.1769T>C (p.Leu590Ser) rs1763219171
NM_022455.5(NSD1):c.1775G>A (p.Gly592Asp)
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.5(NSD1):c.1824del (p.Lys608fs) rs786205648
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.5(NSD1):c.1837C>G (p.Leu613Val)
NM_022455.5(NSD1):c.1852A>G (p.Lys618Glu)
NM_022455.5(NSD1):c.1964G>A (p.Ser655Asn)
NM_022455.5(NSD1):c.1980C>A (p.Asn660Lys) rs140072393
NM_022455.5(NSD1):c.2047_2048del (p.Lys683fs) rs587784079
NM_022455.5(NSD1):c.2054dup (p.Tyr686fs) rs1554189269
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter) rs786205576
NM_022455.5(NSD1):c.2073C>T (p.Ala691=) rs1054023528
NM_022455.5(NSD1):c.2091A>G (p.Lys697=)
NM_022455.5(NSD1):c.2108del (p.Leu703fs) rs886041550
NM_022455.5(NSD1):c.2152_2153del (p.Ser718fs) rs1064796161
NM_022455.5(NSD1):c.2163_2169del (p.Gly722fs) rs886041832
NM_022455.5(NSD1):c.2209A>G (p.Thr737Ala)
NM_022455.5(NSD1):c.2225C>G (p.Pro742Arg) rs777960412
NM_022455.5(NSD1):c.2276C>A (p.Ser759Ter) rs587784084
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val) rs375566261
NM_022455.5(NSD1):c.2349del (p.Lys783fs) rs398124374
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.2408C>G (p.Pro803Arg) rs1763279245
NM_022455.5(NSD1):c.243G>C (p.Met81Ile) rs886042530
NM_022455.5(NSD1):c.2452G>A (p.Asp818Asn)
NM_022455.5(NSD1):c.2494A>T (p.Lys832Ter) rs1562209222
NM_022455.5(NSD1):c.2503G>A (p.Gly835Ser) rs1197555000
NM_022455.5(NSD1):c.2528A>T (p.His843Leu)
NM_022455.5(NSD1):c.2581T>C (p.Leu861=) rs1393651252
NM_022455.5(NSD1):c.2615T>G (p.Leu872Ter) rs1581321573
NM_022455.5(NSD1):c.2636_2637del (p.Ser879fs) rs1554189720
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) rs2149845949
NM_022455.5(NSD1):c.2668T>G (p.Phe890Val) rs1763299227
NM_022455.5(NSD1):c.2670C>G (p.Phe890Leu)
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.2687A>G (p.Gln896Arg) rs1581321959
NM_022455.5(NSD1):c.2711A>C (p.Asp904Ala) rs398124375
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.2778G>T (p.Arg926=)
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter) rs2149846283
NM_022455.5(NSD1):c.2816C>T (p.Pro939Leu) rs1179994585
NM_022455.5(NSD1):c.2831G>A (p.Cys944Tyr)
NM_022455.5(NSD1):c.2892_2914dup (p.Thr972fs) rs1554189871
NM_022455.5(NSD1):c.2915del (p.Thr972fs) rs1554189879
NM_022455.5(NSD1):c.2947G>A (p.Gly983Ser) rs373280032
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.2996_2997insTTAA (p.Leu999_Ser1000insTer) rs1064793616
NM_022455.5(NSD1):c.2998del (p.Ser1000fs) rs1581323431
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs) rs1554189941
NM_022455.5(NSD1):c.3055C>G (p.Arg1019Gly)
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.5(NSD1):c.3110A>G (p.Gln1037Arg) rs794727735
NM_022455.5(NSD1):c.3171T>C (p.Asn1057=) rs1763344554
NM_022455.5(NSD1):c.3192T>C (p.Leu1064=)
NM_022455.5(NSD1):c.3193G>T (p.Asp1065Tyr)
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3224G>A (p.Gly1075Glu) rs1562212091
NM_022455.5(NSD1):c.3230C>G (p.Ser1077Ter) rs1064793843
NM_022455.5(NSD1):c.3231_3237delinsTC (p.Leu1078fs) rs2149847729
NM_022455.5(NSD1):c.3274C>T (p.Gln1092Ter) rs1562212423
NM_022455.5(NSD1):c.3277A>C (p.Ile1093Leu)
NM_022455.5(NSD1):c.3290T>A (p.Leu1097Ter) rs1562212484
NM_022455.5(NSD1):c.3323T>C (p.Val1108Ala) rs779656661
NM_022455.5(NSD1):c.3331G>A (p.Asp1111Asn)
NM_022455.5(NSD1):c.334G>T (p.Val112Phe) rs1756231832
NM_022455.5(NSD1):c.3358G>C (p.Gly1120Arg) rs1763362171
NM_022455.5(NSD1):c.3368del (p.Ser1123fs) rs2149848219
NM_022455.5(NSD1):c.3382dup (p.Ser1128fs) rs886043780
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe) rs559441081
NM_022455.5(NSD1):c.3383del (p.Ser1128fs)
NM_022455.5(NSD1):c.3387_3389delinsGG (p.Phe1129fs) rs886039717
NM_022455.5(NSD1):c.3422T>G (p.Met1141Arg)
NM_022455.5(NSD1):c.3423_3424insCC (p.Asn1142fs) rs1064796081
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
NM_022455.5(NSD1):c.3457C>T (p.Gln1153Ter) rs1554190269
NM_022455.5(NSD1):c.3460G>A (p.Val1154Met) rs1001657669
NM_022455.5(NSD1):c.346T>G (p.Leu116Val) rs1581090282
NM_022455.5(NSD1):c.3481C>T (p.Gln1161Ter) rs1554190292
NM_022455.5(NSD1):c.3496del (p.Arg1166fs) rs1763373604
NM_022455.5(NSD1):c.3541_3544del (p.Glu1181fs)
NM_022455.5(NSD1):c.3546C>G (p.Asn1182Lys) rs1562213440
NM_022455.5(NSD1):c.3548_3549del (p.Asn1182_Ser1183insTer) rs886039578
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer) rs878855075
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.5(NSD1):c.3575del (p.Pro1192fs) rs1064796114
NM_022455.5(NSD1):c.3580_3581insT (p.Asp1194fs) rs1581326628
NM_022455.5(NSD1):c.3581_3582delinsG (p.Asp1194fs) rs886041512
NM_022455.5(NSD1):c.3631_3632delinsA (p.Ala1211fs) rs886042047
NM_022455.5(NSD1):c.3637A>G (p.Ile1213Val)
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)
NM_022455.5(NSD1):c.3671C>G (p.Ala1224Gly)
NM_022455.5(NSD1):c.3706G>A (p.Val1236Ile)
NM_022455.5(NSD1):c.3758T>C (p.Ile1253Thr)
NM_022455.5(NSD1):c.3760C>A (p.Pro1254Thr) rs1035426339
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=) rs794727734
NM_022455.5(NSD1):c.3796+282_3796+295del rs758221753
NM_022455.5(NSD1):c.3796+282_3796+296del rs369449613
NM_022455.5(NSD1):c.3796+305_3796+306dup rs34930823
NM_022455.5(NSD1):c.3796+306del rs34930823
NM_022455.5(NSD1):c.3796+306dup rs34930823
NM_022455.5(NSD1):c.3796+34dup rs35159794
NM_022455.5(NSD1):c.3796G>A (p.Ala1266Thr) rs2149849787
NM_022455.5(NSD1):c.3797-9_3797-7del
NM_022455.5(NSD1):c.3818_3819del (p.Arg1273fs)
NM_022455.5(NSD1):c.3833G>A (p.Ser1278Asn) rs1765400132
NM_022455.5(NSD1):c.3870G>T (p.Gln1290His)
NM_022455.5(NSD1):c.3874T>A (p.Phe1292Ile)
NM_022455.5(NSD1):c.3894_3896del (p.Lys1300del) rs2149884022
NM_022455.5(NSD1):c.3922-157del rs34640392
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.5(NSD1):c.3975T>C (p.Ala1325=)
NM_022455.5(NSD1):c.398A>G (p.Asn133Ser)
NM_022455.5(NSD1):c.3997A>G (p.Asn1333Asp)
NM_022455.5(NSD1):c.39G>C (p.Leu13=) rs1581089158
NM_022455.5(NSD1):c.4020A>G (p.Glu1340=) rs2149887388
NM_022455.5(NSD1):c.4058_4061del (p.Glu1353fs) rs1554195857
NM_022455.5(NSD1):c.4188G>T (p.Thr1396=) rs148112060
NM_022455.5(NSD1):c.4192+1G>A rs2149887853
NM_022455.5(NSD1):c.4193-8C>T
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs) rs794727930
NM_022455.5(NSD1):c.4242del (p.Glu1414fs)
NM_022455.5(NSD1):c.4301del (p.Lys1434fs) rs587784112
NM_022455.5(NSD1):c.4302+341_4302+342del rs142778014
NM_022455.5(NSD1):c.4303-1G>C rs1766101931
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4378+5G>A
NM_022455.5(NSD1):c.4378+5G>C rs1064793218
NM_022455.5(NSD1):c.438C>G (p.Ile146Met) rs1240259079
NM_022455.5(NSD1):c.4403C>T (p.Pro1468Leu)
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4431T>C (p.Ala1477=)
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) rs150920473
NM_022455.5(NSD1):c.4484T>G (p.Ile1495Ser) rs1554197510
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.4501G>A (p.Glu1501Lys)
NM_022455.5(NSD1):c.4521G>A (p.Thr1507=) rs778642917
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp) rs1766450095
NM_022455.5(NSD1):c.4531C>A (p.Pro1511Thr)
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4606G>A (p.Gly1536Ser) rs1766459877
NM_022455.5(NSD1):c.4607G>T (p.Gly1536Val) rs1562255664
NM_022455.5(NSD1):c.4636_4639del (p.Cys1546fs) rs1554197794
NM_022455.5(NSD1):c.4641+206G>C rs10056245
NM_022455.5(NSD1):c.4658del (p.Gly1553fs) rs886041615
NM_022455.5(NSD1):c.4691G>A (p.Gly1564Glu)
NM_022455.5(NSD1):c.4701C>A (p.His1567Gln) rs2149904507
NM_022455.5(NSD1):c.4748G>T (p.Cys1583Phe) rs2149904611
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter) rs587784126
NM_022455.5(NSD1):c.4759C>T (p.Arg1587Cys) rs764613088
NM_022455.5(NSD1):c.4765+1G>A rs1057520671
NM_022455.5(NSD1):c.4765+4A>G rs1554198443
NM_022455.5(NSD1):c.4783G>C (p.Val1595Leu)
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser) rs1554199383
NM_022455.5(NSD1):c.4801del (p.Glu1601fs) rs1064793336
NM_022455.5(NSD1):c.4804G>A (p.Asp1602Asn) rs727504055
NM_022455.5(NSD1):c.4819_4820dup (p.Leu1608fs) rs1554199392
NM_022455.5(NSD1):c.4825delinsGA (p.Pro1609fs) rs1057518184
NM_022455.5(NSD1):c.4826C>T (p.Pro1609Leu) rs2149912363
NM_022455.5(NSD1):c.4844A>G (p.Tyr1615Cys) rs398124378
NM_022455.5(NSD1):c.4890C>G (p.Asn1630Lys) rs2149912553
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr) rs1064796568
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
NM_022455.5(NSD1):c.4918T>A (p.Cys1640Ser) rs878853111
NM_022455.5(NSD1):c.4944A>T (p.Pro1648=)
NM_022455.5(NSD1):c.4966+76_4966+77insTTTT rs1343529552
NM_022455.5(NSD1):c.4966+93_4966+96dup rs373383515
NM_022455.5(NSD1):c.4966+96del rs373383515
NM_022455.5(NSD1):c.4966+96dup rs373383515
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.5020del (p.Cys1674fs) rs1581468355
NM_022455.5(NSD1):c.5021G>C (p.Cys1674Ser) rs587784135
NM_022455.5(NSD1):c.5036C>G (p.Ser1679Ter) rs1064796184
NM_022455.5(NSD1):c.5046T>G (p.Leu1682=)
NM_022455.5(NSD1):c.5059ATC[1] (p.Ile1688del) rs1554200200
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.5(NSD1):c.5103T>C (p.Asn1701=) rs756895271
NM_022455.5(NSD1):c.5110dup (p.His1704fs) rs1554200214
NM_022455.5(NSD1):c.5129G>T (p.Cys1710Phe) rs1057518133
NM_022455.5(NSD1):c.5150G>A (p.Gly1717Asp) rs2149930984
NM_022455.5(NSD1):c.5182G>C (p.Ala1728Pro) rs1057520710
NM_022455.5(NSD1):c.5201T>C (p.Leu1734Pro)
NM_022455.5(NSD1):c.5229G>A (p.Trp1743Ter) rs1554201740
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter) rs1581491984
NM_022455.5(NSD1):c.5303+113T>G rs10071723
NM_022455.5(NSD1):c.5303+252del rs35703730
NM_022455.5(NSD1):c.5303+35A>C rs372649300
NM_022455.5(NSD1):c.5510-147G>A rs59992310
NM_022455.5(NSD1):c.5521G>C (p.Ala1841Pro) rs1064795720
NM_022455.5(NSD1):c.5552A>C (p.Gln1851Pro) rs2127241876
NM_022455.5(NSD1):c.5565A>T (p.Arg1855Ser) rs2127241925
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5609A>G (p.Tyr1870Cys) rs1057521142
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs) rs587784152
NM_022455.5(NSD1):c.5651T>A (p.Ile1884Asn)
NM_022455.5(NSD1):c.5683T>C (p.Cys1895Arg) rs1554204102
NM_022455.5(NSD1):c.5699del (p.Thr1900fs) rs1064793705
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5721dup (p.Asp1908fs) rs1581527566
NM_022455.5(NSD1):c.5725T>C (p.Ser1909Pro)
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) rs587784155
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu) rs587784155
NM_022455.5(NSD1):c.5768_5769del (p.Thr1923fs) rs1758801009
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His) rs1391504793
NM_022455.5(NSD1):c.5815C>T (p.Arg1939Cys) rs1064796690
NM_022455.5(NSD1):c.5816G>T (p.Arg1939Leu)
NM_022455.5(NSD1):c.5827G>A (p.Glu1943Lys) rs2127257497
NM_022455.5(NSD1):c.5836A>G (p.Ile1946Val)
NM_022455.5(NSD1):c.5842C>T (p.Arg1948Cys) rs886041941
NM_022455.5(NSD1):c.5851C>T (p.Gln1951Ter) rs1554204165
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.5855G>A (p.Arg1952Gln) rs2127257571
NM_022455.5(NSD1):c.585T>C (p.Tyr195=)
NM_022455.5(NSD1):c.5862G>A (p.Trp1954Ter) rs587784160
NM_022455.5(NSD1):c.5878A>G (p.Thr1960Ala)
NM_022455.5(NSD1):c.5890A>G (p.Lys1964Glu) rs2127257672
NM_022455.5(NSD1):c.5892+1G>T rs886039579
NM_022455.5(NSD1):c.5892+1del rs1064793361
NM_022455.5(NSD1):c.5892+7A>T rs769311050
NM_022455.5(NSD1):c.5898_5899insG (p.Phe1967fs) rs1554204587
NM_022455.5(NSD1):c.5903T>C (p.Val1968Ala) rs1064795059
NM_022455.5(NSD1):c.5910G>C (p.Glu1970Asp) rs1554204594
NM_022455.5(NSD1):c.5943del (p.Glu1980_Cys1981insTer) rs886041734
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.5(NSD1):c.5951G>C (p.Arg1984Pro) rs587784169
NM_022455.5(NSD1):c.5960A>G (p.Tyr1987Cys)
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His) rs587784171
NM_022455.5(NSD1):c.5996T>C (p.Leu1999Pro) rs1085307903
NM_022455.5(NSD1):c.6009+1G>T rs1554204648
NM_022455.5(NSD1):c.6010-11T>A rs1554204909
NM_022455.5(NSD1):c.6010-14_6016delinsC rs1554204905
NM_022455.5(NSD1):c.6010-1G>A rs1057520620
NM_022455.5(NSD1):c.6010-241C>G rs28395268
NM_022455.5(NSD1):c.6010-241C>T rs28395268
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6029G>A (p.Gly2010Asp) rs1064795588
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6058A>T (p.Asn2020Tyr) rs1057518052
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser) rs587784178
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter) rs587784179
NM_022455.5(NSD1):c.6123C>G (p.Gly2041=) rs1320561007
NM_022455.5(NSD1):c.6151+1G>A rs1562296511
NM_022455.5(NSD1):c.6151+287A>G rs115142140
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_022455.5(NSD1):c.6152-1G>A rs886044326
NM_022455.5(NSD1):c.6152-5T>C rs755758018
NM_022455.5(NSD1):c.6158A>C (p.Glu2053Ala) rs1131691321
NM_022455.5(NSD1):c.6170A>G (p.Asn2057Ser) rs1554205939
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) rs1759549616
NM_022455.5(NSD1):c.622G>A (p.Gly208Arg) rs1581091469
NM_022455.5(NSD1):c.626G>A (p.Ser209Asn) rs2149756502
NM_022455.5(NSD1):c.6289A>G (p.Lys2097Glu) rs1057518286
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs) rs2127276046
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter) rs587784188
NM_022455.5(NSD1):c.6314G>A (p.Gly2105Glu)
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6385C>G (p.Gln2129Glu) rs1562305721
NM_022455.5(NSD1):c.6412T>C (p.Cys2138Arg) rs1064795734
NM_022455.5(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_022455.5(NSD1):c.6425A>C (p.Tyr2142Ser) rs1057518051
NM_022455.5(NSD1):c.642A>C (p.Thr214=)
NM_022455.5(NSD1):c.6430G>A (p.Ala2144Thr) rs761103348
NM_022455.5(NSD1):c.6440dup (p.Asn2148fs) rs886042725
NM_022455.5(NSD1):c.6443A>G (p.Asn2148Ser) rs2127276605
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6463+1G>A rs398124381
NM_022455.5(NSD1):c.6463+5G>C rs1057518175
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.5(NSD1):c.6464-290dup rs149890561
NM_022455.5(NSD1):c.6464-298G>C rs1386367711
NM_022455.5(NSD1):c.6464-8_6464-5delinsTTTC rs1554207223
NM_022455.5(NSD1):c.6471G>A (p.Trp2157Ter)
NM_022455.5(NSD1):c.6479C>T (p.Pro2160Leu)
NM_022455.5(NSD1):c.6488del (p.Gln2163fs) rs2127279186
NM_022455.5(NSD1):c.6492dup (p.Asp2165Ter) rs1554207244
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer) rs1562098870
NM_022455.5(NSD1):c.6513A>C (p.Ala2171=) rs1581562928
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6524G>T (p.Cys2175Phe) rs1581562963
NM_022455.5(NSD1):c.6533G>A (p.Cys2178Tyr) rs398124382
NM_022455.5(NSD1):c.6538_6539insC (p.Ser2180fs) rs398124383
NM_022455.5(NSD1):c.6547T>A (p.Cys2183Ser)
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.5(NSD1):c.658G>T (p.Gly220Cys) rs755449099
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.5(NSD1):c.6614A>C (p.His2205Pro) rs2127279532
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
NM_022455.5(NSD1):c.662C>T (p.Ala221Val) rs1057524420
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys) rs587784213
NM_022455.5(NSD1):c.6643_6644delinsGAT (p.Pro2215fs) rs1554207344
NM_022455.5(NSD1):c.6655C>T (p.Arg2219Cys) rs2127279650
NM_022455.5(NSD1):c.6767C>G (p.Ala2256Gly) rs2127280001
NM_022455.5(NSD1):c.6818G>C (p.Cys2273Ser)
NM_022455.5(NSD1):c.6824G>A (p.Arg2275Lys)
NM_022455.5(NSD1):c.6899del (p.Ala2300fs) rs1581564208
NM_022455.5(NSD1):c.6965dup (p.Ala2323fs) rs1057517998
NM_022455.5(NSD1):c.6967G>T (p.Ala2323Ser)
NM_022455.5(NSD1):c.7033G>T (p.Val2345Phe) rs398124384
NM_022455.5(NSD1):c.7046C>G (p.Pro2349Arg)
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala) rs765876148
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala) rs1416255762
NM_022455.5(NSD1):c.7219A>G (p.Thr2407Ala) rs1057524329
NM_022455.5(NSD1):c.7234G>T (p.Ala2412Ser)
NM_022455.5(NSD1):c.7259C>T (p.Pro2420Leu) rs1271164466
NM_022455.5(NSD1):c.736G>T (p.Gly246Cys) rs1156510513
NM_022455.5(NSD1):c.7419T>G (p.His2473Gln)
NM_022455.5(NSD1):c.7433A>G (p.Gln2478Arg)
NM_022455.5(NSD1):c.7502C>T (p.Pro2501Leu) rs950485640
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) rs398124385
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile) rs1005975383
NM_022455.5(NSD1):c.7511T>C (p.Val2504Ala) rs2127283325
NM_022455.5(NSD1):c.7523G>A (p.Cys2508Tyr) rs11542768
NM_022455.5(NSD1):c.7525G>T (p.Val2509Leu)
NM_022455.5(NSD1):c.7573G>C (p.Asp2525His)
NM_022455.5(NSD1):c.7604A>G (p.Gln2535Arg) rs2127283711
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=) rs886042468
NM_022455.5(NSD1):c.7765C>T (p.Leu2589=)
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=) rs769301382
NM_022455.5(NSD1):c.7892C>G (p.Ser2631Ter) rs758339424
NM_022455.5(NSD1):c.7949_7950delinsTT (p.Trp2650Phe) rs2127285025
NM_022455.5(NSD1):c.8032C>G (p.Leu2678Val) rs2127285369
NM_022455.5(NSD1):c.8034del (p.Pro2679fs) rs1064794033
NM_022455.5(NSD1):c.804A>G (p.Glu268=) rs766770297
NM_022455.5(NSD1):c.805G>A (p.Glu269Lys) rs751787444
NM_022455.5(NSD1):c.8075_8076insTT (p.Glu2692fs) rs2127285539
NM_022455.5(NSD1):c.817T>C (p.Ser273Pro)
NM_022455.5(NSD1):c.858del (p.Ser287fs) rs2149757050
NM_022455.5(NSD1):c.872A>G (p.Asn291Ser)
NM_022455.5(NSD1):c.887C>A (p.Pro296His)
NM_022455.5(NSD1):c.911C>A (p.Ser304Ter) rs2149757179
NM_022455.5(NSD1):c.91C>G (p.Pro31Ala) rs905320202
NM_022455.5(NSD1):c.927+3A>T
NM_022455.5(NSD1):c.927+5G>A rs2149757213
NM_022455.5(NSD1):c.936T>G (p.Pro312=) rs1581254248
NM_022455.5(NSD1):c.985G>A (p.Ala329Thr) rs1761726567
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.