ClinVar Miner

List of variants in gene NSD1 studied for autosomal anomaly

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1080
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36334
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.5623-22G>A rs79098301 0.04787
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04781
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) rs114747882 0.00694
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
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.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.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.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
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.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.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.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.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.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.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.7160C>T (p.Pro2387Leu) rs766700264 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.1605A>G (p.Leu535=) rs746977419 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.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.1830A>G (p.Gln610=) rs759706066 0.00003
NM_022455.5(NSD1):c.2032A>G (p.Met678Val) rs773904155 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.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.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.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.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.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.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.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.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.7696A>G (p.Thr2566Ala) rs778841211 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 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.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.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.2331A>C (p.Leu777=) rs772447375 0.00001
NM_022455.5(NSD1):c.2340G>A (p.Ser780=) rs766703389 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.2809C>T (p.Arg937Trp) rs780991637 0.00001
NM_022455.5(NSD1):c.2925C>T (p.Ser975=) rs587784090 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.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.3770C>T (p.Thr1257Ile) rs1249385869 0.00001
NM_022455.5(NSD1):c.3921+9C>T rs192246663 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.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.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.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.7076C>T (p.Pro2359Leu) rs769699822 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.7618T>C (p.Ser2540Pro) rs750441093 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.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
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.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.1105T>C (p.Phe369Leu) rs1762710997
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg) rs1762711811
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.1207A>T (p.Lys403Ter)
NM_022455.5(NSD1):c.1236+17G>A rs886038671
NM_022455.5(NSD1):c.1236+9C>T
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter) rs1763175962
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter) rs587784071
NM_022455.5(NSD1):c.1264dup (p.Glu422fs) rs797045804
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu) 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.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.1382C>T (p.Thr461Ile) rs776330654
NM_022455.5(NSD1):c.1395G>A (p.Glu465=)
NM_022455.5(NSD1):c.1407C>A (p.Asp469Glu)
NM_022455.5(NSD1):c.1410G>A (p.Leu470=)
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.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.151T>C (p.Ser51Pro)
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter) rs1131692328
NM_022455.5(NSD1):c.1606A>C (p.Asn536His) rs1554188985
NM_022455.5(NSD1):c.1607A>G (p.Asn536Ser)
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.1687A>C (p.Thr563Pro) rs1763212012
NM_022455.5(NSD1):c.1699A>G (p.Ser567Gly)
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.1743del (p.Glu581fs) rs794729232
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val)
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.1783G>A (p.Glu595Lys)
NM_022455.5(NSD1):c.1786G>C (p.Gly596Arg)
NM_022455.5(NSD1):c.1800A>C (p.Ser600=) rs2149843727
NM_022455.5(NSD1):c.1802dup (p.Cys602fs) rs797045805
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.1820A>G (p.Asn607Ser) rs1265667423
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.1839G>A (p.Leu613=)
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)
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.197dup (p.Ser67fs) rs1756220614
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.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.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.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.2124_2127del (p.His708fs) rs587784082
NM_022455.5(NSD1):c.2137dup (p.Met713fs) rs1581318949
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
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.2190_2191delinsG (p.Ser731fs) rs797045808
NM_022455.5(NSD1):c.2194G>A (p.Asp732Asn)
NM_022455.5(NSD1):c.2215_2217del (p.Val739del) rs1763260903
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>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.2300TAA[1] (p.Ile768del)
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
NM_022455.5(NSD1):c.2314del (p.Ala772fs) rs1554189482
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
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.2350C>T (p.Gln784Ter) rs374740802
NM_022455.5(NSD1):c.2352_2353delinsAA (p.Pro785Thr) rs1763273634
NM_022455.5(NSD1):c.2362C>G (p.Arg788Gly)
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
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.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.2431_2432insCACTC (p.Ser811fs)
NM_022455.5(NSD1):c.243G>C (p.Met81Ile) rs886042530
NM_022455.5(NSD1):c.2493dup (p.Lys832fs)
NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs)
NM_022455.5(NSD1):c.252A>G (p.Val84=)
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.2605dup (p.Tyr869fs) rs2149845831
NM_022455.5(NSD1):c.2613del (p.Ser871_Leu872insTer) rs1581321541
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
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.2669T>A (p.Phe890Tyr)
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.2674del (p.Ser892fs) rs2149846018
NM_022455.5(NSD1):c.26G>T (p.Arg9Ile)
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe)
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp) rs886038674
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
NM_022455.5(NSD1):c.2805T>C (p.Ser935=)
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter) rs2149846283
NM_022455.5(NSD1):c.2827del (p.Asp943fs) rs587784089
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.2889_2890del (p.His963fs)
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.2930A>G (p.Asn977Ser)
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp) rs587784091
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.29G>A (p.Arg10Lys) rs1581089074
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.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.3063_3064del (p.Cys1021fs)
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter) rs2149847258
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.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.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3226G>A (p.Gly1076Ser)
NM_022455.5(NSD1):c.3238G>A (p.Gly1080Ser)
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.3275A>G (p.Gln1092Arg)
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.3331G>T (p.Asp1111Tyr) rs151165525
NM_022455.5(NSD1):c.3335G>A (p.Ser1112Asn)
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.3383C>T (p.Ser1128Phe) rs559441081
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) rs587784101
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
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.3422del (p.Met1141fs) rs1554190247
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.3446A>C (p.Asn1149Thr)
NM_022455.5(NSD1):c.3473A>G (p.Lys1158Arg)
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.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.3570dup (p.Leu1191fs) rs1562213553
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.3598C>T (p.Arg1200Trp)
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.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.3757A>G (p.Ile1253Val) rs1581327291
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=) rs794727734
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.3796+1_3796+6del
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn)
NM_022455.5(NSD1):c.3819C>T (p.Arg1273=)
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.3904C>T (p.Gln1302Ter)
NM_022455.5(NSD1):c.3921+18A>G
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.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.3985C>T (p.Gln1329Ter) rs2149887293
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly) rs587784108
NM_022455.5(NSD1):c.3994G>C (p.Glu1332Gln)
NM_022455.5(NSD1):c.4020del (p.Glu1341fs) rs797045816
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs) rs1765615038
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter) rs587784109
NM_022455.5(NSD1):c.405C>T (p.Ser135=)
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.417G>A (p.Gln139=)
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.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.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.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+3A>T
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+7A>G rs587784116
NM_022455.5(NSD1):c.4379-2A>G rs1581429903
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.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.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.4514dup (p.His1505fs) rs2149899468
NM_022455.5(NSD1):c.451C>T (p.Leu151=)
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.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.4642-2A>G
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly) rs1562259810
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter) rs2149904394
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs) rs2149904428
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter) rs587784122
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.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.4753G>T (p.Glu1585Ter) rs587784126
NM_022455.5(NSD1):c.4764A>G (p.Thr1588=)
NM_022455.5(NSD1):c.4765+18C>T rs751340849
NM_022455.5(NSD1):c.4765+19G>A
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.4786T>A (p.Cys1596Ser) rs1554199383
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4818C>T (p.Cys1606=)
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
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.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.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.4907C>T (p.Ser1636Phe) rs587784129
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr) rs1064796568
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs) rs1562265336
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
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+7A>G rs2149912804
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.5020del (p.Cys1674fs) rs1581468355
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr) rs587784135
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala)
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.5098C>T (p.Arg1700Ter) rs587784137
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.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.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.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.5218G>A (p.Glu1740Lys)
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.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.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+1G>A rs587784141
NM_022455.5(NSD1):c.5303+1G>C rs587784141
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.5549C>T (p.Ala1850Val) rs2127241862
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.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.567C>T (p.Thr189=) rs769162062
NM_022455.5(NSD1):c.5682T>C (p.Arg1894=)
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.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.5724del (p.Ser1909fs) rs1562292879
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.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.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.5824_5828del (p.Pro1942fs) rs2127257484
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter) rs1581527915
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala) rs2127257578
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys) rs587784160
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.5(NSD1):c.5892+1G>A rs886039579
NM_022455.5(NSD1):c.5892+1G>T rs886039579
NM_022455.5(NSD1):c.5893-2A>G rs587784163
NM_022455.5(NSD1):c.58G>T (p.Val20Leu) rs377302741
NM_022455.5(NSD1):c.5903del (p.Val1968fs) rs587784164
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
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.5938G>T (p.Glu1980Ter) rs587784168
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.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.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.5997_5998insT (p.Thr2000fs) rs1562295135
NM_022455.5(NSD1):c.6009+3A>C rs2127261070
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>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.6059A>G (p.Asn2020Ser) rs587784178
NM_022455.5(NSD1):c.6063T>A (p.His2021Gln)
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.6094_6095dup (p.Trp2032fs) rs797045826
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.6125T>G (p.Leu2042Arg) rs2127263172
NM_022455.5(NSD1):c.6128T>C (p.Phe2043Ser) rs2127263182
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.6152-14G>A rs587784182
NM_022455.5(NSD1):c.6152-5T>G rs755758018
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter) rs587784183
NM_022455.5(NSD1):c.6165del (p.Phe2056fs) rs587784184
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.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.6218dup (p.Ala2074fs) rs797045828
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.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.6317del (p.Lys2106fs) rs1562305497
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter) rs1554206783
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.6391dup (p.Val2131fs) rs2127276417
NM_022455.5(NSD1):c.6397T>C (p.Cys2133Arg)
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
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.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.5(NSD1):c.6429C>G (p.His2143Gln) rs121908068
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.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.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.6472G>T (p.Glu2158Ter) rs587784201
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.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.6490T>C (p.Cys2164Arg) rs1760058101
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.6504_6512del (p.Lys2169_Ala2171del)
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.6532T>C (p.Cys2178Arg) rs2127279302
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe) rs398124382
NM_022455.5(NSD1):c.6537dup (p.Ser2180fs) rs879253860
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs) rs587784207
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr)
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>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.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>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>T (p.Gly2209Trp) rs1760067330
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.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.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.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.6787T>A (p.Ser2263Thr)
NM_022455.5(NSD1):c.6804T>G (p.Ala2268=)
NM_022455.5(NSD1):c.6829T>A (p.Leu2277Met) rs28580074
NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu)
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.6905C>T (p.Ser2302Leu)
NM_022455.5(NSD1):c.6920A>C (p.Gln2307Pro) rs2127280443
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.7041C>G (p.Ser2347=)
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser)
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu) rs1756273326
NM_022455.5(NSD1):c.7122A>T (p.Ser2374=)
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.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.7220C>G (p.Thr2407Ser)
NM_022455.5(NSD1):c.7227dup (p.Pro2410fs) rs2127282070
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)
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.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.7454T>C (p.Val2485Ala)
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.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.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
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val) rs1760151289
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys) rs1180593710
NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr) rs1450153384
NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg)
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter) rs749416834
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) rs1756280868
NM_022455.5(NSD1):c.7700C>G (p.Pro2567Arg)
NM_022455.5(NSD1):c.7706C>G (p.Pro2569Arg)
NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu)
NM_022455.5(NSD1):c.7722G>A (p.Pro2574=)
NM_022455.5(NSD1):c.7748del (p.Met2583fs) rs1562311573
NM_022455.5(NSD1):c.7752C>T (p.Val2584=) rs1175003950
NM_022455.5(NSD1):c.7768C>G (p.Pro2590Ala)
NM_022455.5(NSD1):c.7778C>A (p.Ala2593Asp)
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter) rs797045834
NM_022455.5(NSD1):c.7799T>C (p.Phe2600Ser)
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=) rs769301382
NM_022455.5(NSD1):c.7810G>A (p.Gly2604Arg)
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
NM_022455.5(NSD1):c.788_789del (p.Thr263fs) rs1756282703
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.7966C>T (p.Gln2656Ter) rs797045058
NM_022455.5(NSD1):c.7968_7971del (p.Gln2656fs) rs1562312238
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.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.805G>A (p.Glu269Lys) rs751787444
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492
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.91C>G (p.Pro31Ala) rs905320202
NM_022455.5(NSD1):c.922C>G (p.Pro308Ala)
NM_022455.5(NSD1):c.928-8G>C rs1761722744
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
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

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