ClinVar Miner

List of variants reported as likely benign for Kleefstra syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 933
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.4508-12A>T rs28418446 0.01078
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_170606.3(KMT2C):c.162-17T>A rs187902675 0.00620
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=) rs140482040 0.00273
NM_024757.4(EHMT1):c.*1179G>T rs533483370 0.00203
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu) rs138908625 0.00150
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446 0.00092
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
NM_024757.5(EHMT1):c.932C>T (p.Thr311Met) rs142727972 0.00036
NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro) rs370313067 0.00036
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile) rs138819584 0.00033
NM_024757.5(EHMT1):c.2035C>G (p.Leu679Val) rs574272450 0.00029
NM_024757.5(EHMT1):c.2280C>T (p.Asp760=) rs372779658 0.00029
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175 0.00029
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) rs377070695 0.00026
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482 0.00026
NM_024757.5(EHMT1):c.3462-14C>T rs186747522 0.00025
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971 0.00022
NM_024757.5(EHMT1):c.2275+16C>T rs372556737 0.00019
NM_024757.5(EHMT1):c.525A>T (p.Pro175=) rs138790341 0.00019
NM_024757.5(EHMT1):c.2962G>A (p.Ala988Thr) rs565543981 0.00018
NM_024757.5(EHMT1):c.3716+9C>T rs777993644 0.00017
NM_024757.5(EHMT1):c.1176C>T (p.Asp392=) rs373083497 0.00016
NM_024757.5(EHMT1):c.1249-11T>C rs561072157 0.00016
NM_024757.5(EHMT1):c.2799C>T (p.His933=) rs573774002 0.00016
NM_024757.5(EHMT1):c.85+9G>A rs566701810 0.00016
NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=) rs201190450 0.00016
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404 0.00015
NM_024757.5(EHMT1):c.3495C>T (p.Ala1165=) rs148485081 0.00015
NM_024757.5(EHMT1):c.891C>T (p.Ser297=) rs376384316 0.00015
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) rs367662089 0.00014
NM_024757.5(EHMT1):c.290C>T (p.Ser97Leu) rs571203834 0.00014
NM_024757.5(EHMT1):c.2922G>A (p.Thr974=) rs748716122 0.00014
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_024757.5(EHMT1):c.2523G>A (p.Thr841=) rs374867415 0.00013
NM_024757.5(EHMT1):c.2613C>T (p.Asp871=) rs755544597 0.00013
NM_024757.5(EHMT1):c.21+10G>C rs1040872282 0.00012
NM_024757.5(EHMT1):c.2808C>T (p.Asn936=) rs553009659 0.00012
NM_024757.5(EHMT1):c.1647+12T>G rs778702173 0.00011
NM_024757.5(EHMT1):c.2127C>T (p.Pro709=) rs150501660 0.00011
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859 0.00011
NM_024757.5(EHMT1):c.3252C>T (p.Tyr1084=) rs368087892 0.00011
NM_024757.5(EHMT1):c.2337C>T (p.Ala779=) rs371570869 0.00010
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592 0.00009
NM_024757.5(EHMT1):c.2018+6T>G rs774192859 0.00009
NM_024757.5(EHMT1):c.2797C>T (p.His933Tyr) rs148946382 0.00009
NM_024757.5(EHMT1):c.2838C>T (p.Ala946=) rs140941800 0.00009
NM_024757.5(EHMT1):c.3082G>A (p.Ala1028Thr) rs772023246 0.00009
NM_024757.5(EHMT1):c.3181-17G>A rs368314660 0.00009
NM_024757.5(EHMT1):c.3489A>G (p.Ser1163=) rs200090916 0.00009
NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=) rs371136319 0.00009
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.631G>A (p.Val211Ile) rs201528122 0.00009
NM_024757.5(EHMT1):c.933G>A (p.Thr311=) rs748259939 0.00009
NM_024757.5(EHMT1):c.1369+12G>C rs532795271 0.00008
NM_024757.5(EHMT1):c.1413G>A (p.Thr471=) rs772982687 0.00008
NM_024757.5(EHMT1):c.3180+9C>T rs774375627 0.00008
NM_024757.5(EHMT1):c.3181-18C>T rs374607608 0.00008
NM_024757.5(EHMT1):c.3374+20C>T rs372675658 0.00008
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937 0.00007
NM_024757.5(EHMT1):c.3081C>T (p.Asn1027=) rs777106945 0.00007
NM_024757.5(EHMT1):c.3716+4C>T rs375271697 0.00007
NM_024757.5(EHMT1):c.985G>C (p.Glu329Gln) rs538516467 0.00007
NM_024757.5(EHMT1):c.1380G>A (p.Ser460=) rs35935211 0.00006
NM_024757.5(EHMT1):c.2166C>T (p.Ser722=) rs775451150 0.00006
NM_024757.5(EHMT1):c.2356G>A (p.Val786Met) rs398124405 0.00006
NM_024757.5(EHMT1):c.240C>T (p.Asn80=) rs752561133 0.00006
NM_024757.5(EHMT1):c.2508C>T (p.Asp836=) rs371937933 0.00006
NM_024757.5(EHMT1):c.2656G>A (p.Val886Met) rs146269774 0.00006
NM_024757.5(EHMT1):c.2766C>T (p.Ala922=) rs375339474 0.00006
NM_024757.5(EHMT1):c.2864T>C (p.Val955Ala) rs780044713 0.00006
NM_024757.5(EHMT1):c.3062T>A (p.Ile1021Asn) rs756487270 0.00006
NM_024757.5(EHMT1):c.3375-8T>A rs371179697 0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601 0.00006
NM_024757.5(EHMT1):c.370G>A (p.Gly124Arg) rs140387451 0.00006
NM_024757.5(EHMT1):c.427C>T (p.Leu143=) rs373407070 0.00006
NM_024757.5(EHMT1):c.438G>A (p.Ser146=) rs151008340 0.00006
NM_024757.5(EHMT1):c.97G>T (p.Ala33Ser) rs750654971 0.00006
NM_024757.5(EHMT1):c.154G>A (p.Gly52Ser) rs200364530 0.00005
NM_024757.5(EHMT1):c.2579C>T (p.Ser860Leu) rs757282956 0.00005
NM_024757.5(EHMT1):c.2996C>T (p.Ala999Val) rs747347498 0.00005
NM_024757.5(EHMT1):c.309G>A (p.Ala103=) rs138824805 0.00005
NM_024757.5(EHMT1):c.3716+15G>A rs373283387 0.00005
NM_024757.5(EHMT1):c.3888C>T (p.Asp1296=) rs749218131 0.00005
NM_024757.5(EHMT1):c.40G>C (p.Glu14Gln) rs751473920 0.00005
NM_024757.5(EHMT1):c.498C>T (p.Ser166=) rs146037252 0.00005
NM_024757.5(EHMT1):c.1054G>A (p.Asp352Asn) rs778201214 0.00004
NM_024757.5(EHMT1):c.1249-15C>G rs771044600 0.00004
NM_024757.5(EHMT1):c.153C>T (p.Asp51=) rs765396242 0.00004
NM_024757.5(EHMT1):c.1667G>A (p.Ser556Asn) rs980518162 0.00004
NM_024757.5(EHMT1):c.2096C>T (p.Thr699Met) rs141689686 0.00004
NM_024757.5(EHMT1):c.2382+15C>T rs772535266 0.00004
NM_024757.5(EHMT1):c.2427G>A (p.Pro809=) rs370924392 0.00004
NM_024757.5(EHMT1):c.2557G>C (p.Glu853Gln) rs1267450776 0.00004
NM_024757.5(EHMT1):c.2665G>A (p.Val889Met) rs775400731 0.00004
NM_024757.5(EHMT1):c.2712+9G>A rs766635512 0.00004
NM_024757.5(EHMT1):c.276G>A (p.Ala92=) rs376810828 0.00004
NM_024757.5(EHMT1):c.2814C>T (p.His938=) rs151024617 0.00004
NM_024757.5(EHMT1):c.2827C>T (p.Leu943=) rs150913663 0.00004
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) rs147956904 0.00004
NM_024757.5(EHMT1):c.3022A>C (p.Arg1008=) rs767195768 0.00004
NM_024757.5(EHMT1):c.30G>A (p.Pro10=) rs369073742 0.00004
NM_024757.5(EHMT1):c.3141G>A (p.Thr1047=) rs146191149 0.00004
NM_024757.5(EHMT1):c.3225C>T (p.Cys1075=) rs779760321 0.00004
NM_024757.5(EHMT1):c.3226G>A (p.Gly1076Ser) rs749054610 0.00004
NM_024757.5(EHMT1):c.3253G>A (p.Asp1085Asn) rs201476843 0.00004
NM_024757.5(EHMT1):c.3321C>T (p.His1107=) rs781426172 0.00004
NM_024757.5(EHMT1):c.3462-4G>C rs374317041 0.00004
NM_024757.5(EHMT1):c.3624G>T (p.Val1208=) rs377179450 0.00004
NM_024757.5(EHMT1):c.3632G>A (p.Arg1211His) rs751046687 0.00004
NM_024757.5(EHMT1):c.405G>T (p.Gln135His) rs200982880 0.00004
NM_024757.5(EHMT1):c.485G>T (p.Gly162Val) rs769036698 0.00004
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988 0.00004
NM_024757.5(EHMT1):c.69C>T (p.Thr23=) rs529750103 0.00004
NM_024757.5(EHMT1):c.85+19G>A rs757611012 0.00004
NM_024757.5(EHMT1):c.1100C>T (p.Ala367Val) rs764415861 0.00003
NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser) rs754380060 0.00003
NM_024757.5(EHMT1):c.1337G>A (p.Arg446Gln) rs745964626 0.00003
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668 0.00003
NM_024757.5(EHMT1):c.1710G>A (p.Pro570=) rs746769518 0.00003
NM_024757.5(EHMT1):c.1951G>A (p.Val651Met) rs188452845 0.00003
NM_024757.5(EHMT1):c.1966G>A (p.Gly656Arg) rs376445192 0.00003
NM_024757.5(EHMT1):c.2046C>T (p.Asp682=) rs755542553 0.00003
NM_024757.5(EHMT1):c.2103T>G (p.Pro701=) rs1235274231 0.00003
NM_024757.5(EHMT1):c.2181C>T (p.Leu727=) rs377163037 0.00003
NM_024757.5(EHMT1):c.2661C>T (p.Asp887=) rs139459283 0.00003
NM_024757.5(EHMT1):c.270G>T (p.Arg90=) rs759317436 0.00003
NM_024757.5(EHMT1):c.2921C>T (p.Thr974Met) rs371580823 0.00003
NM_024757.5(EHMT1):c.2925C>T (p.Pro975=) rs772612738 0.00003
NM_024757.5(EHMT1):c.3001G>A (p.Asp1001Asn) rs745574375 0.00003
NM_024757.5(EHMT1):c.3043G>A (p.Ala1015Thr) rs764291502 0.00003
NM_024757.5(EHMT1):c.308C>T (p.Ala103Val) rs781024598 0.00003
NM_024757.5(EHMT1):c.3266G>A (p.Arg1089Gln) rs1039353637 0.00003
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189 0.00003
NM_024757.5(EHMT1):c.3395G>A (p.Arg1132Gln) rs762881531 0.00003
NM_024757.5(EHMT1):c.3498C>T (p.Asp1166=) rs374902198 0.00003
NM_024757.5(EHMT1):c.3684C>T (p.Ser1228=) rs777132995 0.00003
NM_024757.5(EHMT1):c.3791G>A (p.Arg1264Gln) rs545700329 0.00003
NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu) rs925532395 0.00003
NM_024757.5(EHMT1):c.591C>T (p.Asp197=) rs199688689 0.00003
NM_024757.5(EHMT1):c.630C>T (p.Ser210=) rs576449489 0.00003
NM_024757.5(EHMT1):c.69C>G (p.Thr23=) rs529750103 0.00003
NM_024757.5(EHMT1):c.981+9C>T rs75421798 0.00003
NM_024757.5(EHMT1):c.1068C>T (p.Leu356=) rs928150931 0.00002
NM_024757.5(EHMT1):c.1133C>T (p.Ser378Phe) rs780462689 0.00002
NM_024757.5(EHMT1):c.1249-14G>A rs553184937 0.00002
NM_024757.5(EHMT1):c.1414G>A (p.Ala472Thr) rs372072542 0.00002
NM_024757.5(EHMT1):c.1481T>A (p.Ile494Asn) rs1344004596 0.00002
NM_024757.5(EHMT1):c.1502-20_1502-19del rs771706836 0.00002
NM_024757.5(EHMT1):c.1511A>G (p.Asn504Ser) rs778447794 0.00002
NM_024757.5(EHMT1):c.161C>T (p.Thr54Ile) rs757663357 0.00002
NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_024757.5(EHMT1):c.2019-11C>G rs971654084 0.00002
NM_024757.5(EHMT1):c.21+20G>C rs1026847466 0.00002
NM_024757.5(EHMT1):c.2142A>G (p.Gly714=) rs758845539 0.00002
NM_024757.5(EHMT1):c.2250G>A (p.Glu750=) rs755764879 0.00002
NM_024757.5(EHMT1):c.2382+13G>A rs374688564 0.00002
NM_024757.5(EHMT1):c.2396T>C (p.Ile799Thr) rs775334071 0.00002
NM_024757.5(EHMT1):c.2494G>A (p.Val832Met) rs777770909 0.00002
NM_024757.5(EHMT1):c.24A>G (p.Ala8=) rs767056905 0.00002
NM_024757.5(EHMT1):c.2506-7G>A rs768388616 0.00002
NM_024757.5(EHMT1):c.2601C>T (p.Asn867=) rs928087076 0.00002
NM_024757.5(EHMT1):c.2608-8C>T rs754459531 0.00002
NM_024757.5(EHMT1):c.261A>T (p.Thr87=) rs372230459 0.00002
NM_024757.5(EHMT1):c.2712+8C>T rs760844879 0.00002
NM_024757.5(EHMT1):c.2712C>T (p.Asn904=) rs200102386 0.00002
NM_024757.5(EHMT1):c.2779G>A (p.Ala927Thr) rs776944419 0.00002
NM_024757.5(EHMT1):c.2871C>G (p.Leu957=) rs1200280724 0.00002
NM_024757.5(EHMT1):c.2973G>A (p.Met991Ile) rs755184801 0.00002
NM_024757.5(EHMT1):c.2993C>T (p.Ser998Leu) rs758862496 0.00002
NM_024757.5(EHMT1):c.3042C>T (p.Ile1014=) rs143083438 0.00002
NM_024757.5(EHMT1):c.3085G>A (p.Val1029Met) rs886613648 0.00002
NM_024757.5(EHMT1):c.3105C>T (p.Pro1035=) rs763284674 0.00002
NM_024757.5(EHMT1):c.3120C>T (p.Tyr1040=) rs374056389 0.00002
NM_024757.5(EHMT1):c.3180+13_3180+15del rs1564811224 0.00002
NM_024757.5(EHMT1):c.3180+18A>C rs1446838846 0.00002
NM_024757.5(EHMT1):c.3181-8C>T rs1554896993 0.00002
NM_024757.5(EHMT1):c.3195C>T (p.Ile1065=) rs557135935 0.00002
NM_024757.5(EHMT1):c.3258+8C>T rs776758566 0.00002
NM_024757.5(EHMT1):c.3354C>T (p.Arg1118=) rs748502967 0.00002
NM_024757.5(EHMT1):c.3360A>G (p.Val1120=) rs1410045037 0.00002
NM_024757.5(EHMT1):c.3567G>A (p.Ala1189=) rs780886562 0.00002
NM_024757.5(EHMT1):c.3583G>A (p.Val1195Ile) rs779218347 0.00002
NM_024757.5(EHMT1):c.3618C>T (p.Asn1206=) rs1177649855 0.00002
NM_024757.5(EHMT1):c.361G>A (p.Gly121Ser) rs771499811 0.00002
NM_024757.5(EHMT1):c.3654C>T (p.Asp1218=) rs1406192720 0.00002
NM_024757.5(EHMT1):c.3752G>T (p.Gly1251Val) rs1302317350 0.00002
NM_024757.5(EHMT1):c.3789C>T (p.Cys1263=) rs748414325 0.00002
NM_024757.5(EHMT1):c.3882C>T (p.Ala1294=) rs769782017 0.00002
NM_024757.5(EHMT1):c.3883G>A (p.Ala1295Thr) rs775220788 0.00002
NM_024757.5(EHMT1):c.454G>A (p.Ala152Thr) rs370834767 0.00002
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) rs1003872402 0.00002
NM_024757.5(EHMT1):c.513G>A (p.Thr171=) rs765164018 0.00002
NM_024757.5(EHMT1):c.533C>A (p.Thr178Asn) rs777497639 0.00002
NM_024757.5(EHMT1):c.558A>G (p.Thr186=) rs555678625 0.00002
NM_024757.5(EHMT1):c.601C>T (p.His201Tyr) rs749050324 0.00002
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser) rs1004363452 0.00002
NM_024757.5(EHMT1):c.824-10T>C rs774899103 0.00002
NM_024757.5(EHMT1):c.85+7G>A rs546567437 0.00002
NM_024757.5(EHMT1):c.86-12C>G rs969044080 0.00002
NM_024757.5(EHMT1):c.1000G>A (p.Ala334Thr) rs767491140 0.00001
NM_024757.5(EHMT1):c.1043C>T (p.Ser348Leu) rs558732856 0.00001
NM_024757.5(EHMT1):c.1050G>A (p.Glu350=) rs149871742 0.00001
NM_024757.5(EHMT1):c.1065G>A (p.Glu355=) rs768149187 0.00001
NM_024757.5(EHMT1):c.1077C>T (p.Asp359=) rs189753830 0.00001
NM_024757.5(EHMT1):c.1101G>A (p.Ala367=) rs574815586 0.00001
NM_024757.5(EHMT1):c.1104C>T (p.Ala368=) rs757380936 0.00001
NM_024757.5(EHMT1):c.1113C>T (p.Pro371=) rs1441541519 0.00001
NM_024757.5(EHMT1):c.114A>T (p.Ser38=) rs1305499671 0.00001
NM_024757.5(EHMT1):c.1170+7G>T rs756577733 0.00001
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152 0.00001
NM_024757.5(EHMT1):c.1213G>A (p.Gly405Arg) rs766828352 0.00001
NM_024757.5(EHMT1):c.1248+16T>G rs777305555 0.00001
NM_024757.5(EHMT1):c.1249-20C>T rs1249797305 0.00001
NM_024757.5(EHMT1):c.1308C>T (p.Pro436=) rs754767362 0.00001
NM_024757.5(EHMT1):c.1322C>A (p.Ala441Asp) rs770997364 0.00001
NM_024757.5(EHMT1):c.1336C>T (p.Arg446Trp) rs1394339903 0.00001
NM_024757.5(EHMT1):c.1382A>G (p.Tyr461Cys) rs576338391 0.00001
NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) rs794727979 0.00001
NM_024757.5(EHMT1):c.1428C>T (p.Ser476=) rs770624310 0.00001
NM_024757.5(EHMT1):c.1501+12G>T rs748719406 0.00001
NM_024757.5(EHMT1):c.1502-12G>A rs371298490 0.00001
NM_024757.5(EHMT1):c.1527G>A (p.Leu509=) rs541570299 0.00001
NM_024757.5(EHMT1):c.1536C>T (p.Asp512=) rs769292209 0.00001
NM_024757.5(EHMT1):c.1567C>T (p.Arg523Trp) rs562496442 0.00001
NM_024757.5(EHMT1):c.1581G>A (p.Pro527=) rs765571288 0.00001
NM_024757.5(EHMT1):c.1604T>G (p.Leu535Arg) rs1172239495 0.00001
NM_024757.5(EHMT1):c.1647+13G>C rs748182291 0.00001
NM_024757.5(EHMT1):c.1647+8C>T rs748761329 0.00001
NM_024757.5(EHMT1):c.1648-18A>G rs969081231 0.00001
NM_024757.5(EHMT1):c.1716C>T (p.Leu572=) rs775845365 0.00001
NM_024757.5(EHMT1):c.1736G>A (p.Arg579Gln) rs768033708 0.00001
NM_024757.5(EHMT1):c.1790C>T (p.Ala597Val) rs369565794 0.00001
NM_024757.5(EHMT1):c.1791+15C>T rs112649001 0.00001
NM_024757.5(EHMT1):c.1791+16G>A rs375461503 0.00001
NM_024757.5(EHMT1):c.1806G>A (p.Glu602=) rs137852713 0.00001
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) rs373640528 0.00001
NM_024757.5(EHMT1):c.1859G>A (p.Arg620Gln) rs534087251 0.00001
NM_024757.5(EHMT1):c.1883C>T (p.Pro628Leu) rs1399162372 0.00001
NM_024757.5(EHMT1):c.1923G>A (p.Thr641=) rs375663182 0.00001
NM_024757.5(EHMT1):c.1931A>C (p.Lys644Thr) rs767536068 0.00001
NM_024757.5(EHMT1):c.193_198dup (p.Ser65_His66dup) rs756643740 0.00001
NM_024757.5(EHMT1):c.1959A>T (p.Pro653=) rs200450778 0.00001
NM_024757.5(EHMT1):c.1965C>T (p.Pro655=) rs374533940 0.00001
NM_024757.5(EHMT1):c.1982C>T (p.Ser661Leu) rs576113368 0.00001
NM_024757.5(EHMT1):c.198T>C (p.His66=) rs982499693 0.00001
NM_024757.5(EHMT1):c.2018+13G>A rs761391274 0.00001
NM_024757.5(EHMT1):c.2019-16A>G rs759314972 0.00001
NM_024757.5(EHMT1):c.2019-4G>A rs1951081014 0.00001
NM_024757.5(EHMT1):c.2047G>A (p.Asp683Asn) rs779359305 0.00001
NM_024757.5(EHMT1):c.2077C>T (p.Pro693Ser) rs765174338 0.00001
NM_024757.5(EHMT1):c.2079C>T (p.Pro693=) rs548142464 0.00001
NM_024757.5(EHMT1):c.2095A>G (p.Thr699Ala) rs1262088454 0.00001
NM_024757.5(EHMT1):c.21+8G>A rs1290220246 0.00001
NM_024757.5(EHMT1):c.21+9C>T rs1009355323 0.00001
NM_024757.5(EHMT1):c.2106T>C (p.Ala702=) rs1472149075 0.00001
NM_024757.5(EHMT1):c.2130C>G (p.Gly710=) rs1383023998 0.00001
NM_024757.5(EHMT1):c.2131C>T (p.Leu711Phe) rs779593564 0.00001
NM_024757.5(EHMT1):c.2143C>G (p.Pro715Ala) rs1301900330 0.00001
NM_024757.5(EHMT1):c.2158T>C (p.Leu720=) rs1275986557 0.00001
NM_024757.5(EHMT1):c.2184C>T (p.Asp728=) rs760890506 0.00001
NM_024757.5(EHMT1):c.2196C>T (p.Pro732=) rs764533075 0.00001
NM_024757.5(EHMT1):c.2275+17G>A rs1170029941 0.00001
NM_024757.5(EHMT1):c.228C>T (p.Ser76=) rs368743632 0.00001
NM_024757.5(EHMT1):c.230C>G (p.Ala77Gly) rs762442350 0.00001
NM_024757.5(EHMT1):c.2310C>T (p.His770=) rs1951619416 0.00001
NM_024757.5(EHMT1):c.2334C>T (p.His778=) rs768030450 0.00001
NM_024757.5(EHMT1):c.2382+5G>A rs184722423 0.00001
NM_024757.5(EHMT1):c.2382+7C>T rs541536081 0.00001
NM_024757.5(EHMT1):c.2382+8G>A rs746771278 0.00001
NM_024757.5(EHMT1):c.2400C>T (p.Asp800=) rs762541804 0.00001
NM_024757.5(EHMT1):c.2409A>G (p.Ser803=) rs761738417 0.00001
NM_024757.5(EHMT1):c.2443G>A (p.Glu815Lys) rs1443023108 0.00001
NM_024757.5(EHMT1):c.246G>A (p.Gln82=) rs777574996 0.00001
NM_024757.5(EHMT1):c.2487G>A (p.Gly829=) rs574513122 0.00001
NM_024757.5(EHMT1):c.2506-18G>T rs375505317 0.00001
NM_024757.5(EHMT1):c.2509G>A (p.Ala837Thr) rs398124406 0.00001
NM_024757.5(EHMT1):c.2556C>T (p.Tyr852=) rs369283972 0.00001
NM_024757.5(EHMT1):c.2583T>C (p.Asn861=) rs767570851 0.00001
NM_024757.5(EHMT1):c.258C>G (p.Asn86Lys) rs774559956 0.00001
NM_024757.5(EHMT1):c.2616A>G (p.Gly872=) rs779277999 0.00001
NM_024757.5(EHMT1):c.2685G>A (p.Lys895=) rs1953427318 0.00001
NM_024757.5(EHMT1):c.2713-11T>C rs1048533067 0.00001
NM_024757.5(EHMT1):c.2724T>A (p.Ile908=) rs763379848 0.00001
NM_024757.5(EHMT1):c.2793C>T (p.Asp931=) rs1954483509 0.00001
NM_024757.5(EHMT1):c.2802C>T (p.Ala934=) rs142883326 0.00001
NM_024757.5(EHMT1):c.2820C>T (p.Asp940=) rs765865626 0.00001
NM_024757.5(EHMT1):c.2856C>T (p.Tyr952=) rs1435792854 0.00001
NM_024757.5(EHMT1):c.2898C>T (p.Thr966=) rs547668698 0.00001
NM_024757.5(EHMT1):c.2937G>A (p.Ala979=) rs564664932 0.00001
NM_024757.5(EHMT1):c.2952G>A (p.Gln984=) rs1445794997 0.00001
NM_024757.5(EHMT1):c.295A>G (p.Arg99Gly) rs1313402103 0.00001
NM_024757.5(EHMT1):c.2994G>C (p.Ser998=) rs778296046 0.00001
NM_024757.5(EHMT1):c.3035+20G>A rs776936533 0.00001
NM_024757.5(EHMT1):c.3054C>T (p.Tyr1018=) rs533532226 0.00001
NM_024757.5(EHMT1):c.3058C>T (p.Arg1020Cys) rs757820735 0.00001
NM_024757.5(EHMT1):c.3059G>A (p.Arg1020His) rs376628665 0.00001
NM_024757.5(EHMT1):c.3063C>A (p.Ile1021=) rs779853350 0.00001
NM_024757.5(EHMT1):c.3072C>T (p.Pro1024=) rs778529217 0.00001
NM_024757.5(EHMT1):c.3094G>A (p.Glu1032Lys) rs765569983 0.00001
NM_024757.5(EHMT1):c.3157G>A (p.Asp1053Asn) rs200398481 0.00001
NM_024757.5(EHMT1):c.3174T>C (p.His1058=) rs770831945 0.00001
NM_024757.5(EHMT1):c.3180+5G>A rs377628279 0.00001
NM_024757.5(EHMT1):c.3201C>T (p.Asp1067=) rs1376408857 0.00001
NM_024757.5(EHMT1):c.3212G>C (p.Ser1071Thr) rs1427438113 0.00001
NM_024757.5(EHMT1):c.3234C>T (p.Leu1078=) rs772448960 0.00001
NM_024757.5(EHMT1):c.3258+14C>T rs886063740 0.00001
NM_024757.5(EHMT1):c.3258+9G>A rs371694194 0.00001
NM_024757.5(EHMT1):c.3291G>A (p.Ala1097=) rs573650226 0.00001
NM_024757.5(EHMT1):c.3295C>G (p.Pro1099Ala) rs901785447 0.00001
NM_024757.5(EHMT1):c.3305T>C (p.Ile1102Thr) rs1406807984 0.00001
NM_024757.5(EHMT1):c.332C>T (p.Ala111Val) rs764884859 0.00001
NM_024757.5(EHMT1):c.333C>T (p.Ala111=) rs368961311 0.00001
NM_024757.5(EHMT1):c.3342C>T (p.Asn1114=) rs1348634883 0.00001
NM_024757.5(EHMT1):c.3358G>A (p.Val1120Ile) rs564698985 0.00001
NM_024757.5(EHMT1):c.3374+15C>T rs1234351870 0.00001
NM_024757.5(EHMT1):c.3375-18C>G rs765277997 0.00001
NM_024757.5(EHMT1):c.3399G>A (p.Thr1133=) rs763737073 0.00001
NM_024757.5(EHMT1):c.33G>A (p.Ala11=) rs754740754 0.00001
NM_024757.5(EHMT1):c.3422G>A (p.Arg1141Gln) rs745374795 0.00001
NM_024757.5(EHMT1):c.342T>C (p.Phe114=) rs1554846429 0.00001
NM_024757.5(EHMT1):c.3462-13G>A rs764665478 0.00001
NM_024757.5(EHMT1):c.3462-8C>T rs1423426789 0.00001
NM_024757.5(EHMT1):c.3486C>T (p.Asp1162=) rs1279636662 0.00001
NM_024757.5(EHMT1):c.3522C>T (p.Leu1174=) rs748135858 0.00001
NM_024757.5(EHMT1):c.3541-19C>T rs761932476 0.00001
NM_024757.5(EHMT1):c.3576C>T (p.Tyr1192=) rs560338601 0.00001
NM_024757.5(EHMT1):c.3609C>T (p.Cys1203=) rs776882461 0.00001
NM_024757.5(EHMT1):c.3611A>T (p.Glu1204Val) rs759840211 0.00001
NM_024757.5(EHMT1):c.3627C>T (p.Pro1209=) rs762578639 0.00001
NM_024757.5(EHMT1):c.3641T>C (p.Met1214Thr) rs781134719 0.00001
NM_024757.5(EHMT1):c.3646C>T (p.His1216Tyr) rs569375203 0.00001
NM_024757.5(EHMT1):c.3659G>A (p.Arg1220Gln) rs761138496 0.00001
NM_024757.5(EHMT1):c.3663C>T (p.Phe1221=) rs1052268951 0.00001
NM_024757.5(EHMT1):c.3688C>T (p.Arg1230Cys) rs61744215 0.00001
NM_024757.5(EHMT1):c.3709C>G (p.Gln1237Glu) rs1325669112 0.00001
NM_024757.5(EHMT1):c.3716+10G>A rs747067449 0.00001
NM_024757.5(EHMT1):c.3716+12C>T rs757427956 0.00001
NM_024757.5(EHMT1):c.3726T>C (p.Tyr1242=) rs1160822224 0.00001
NM_024757.5(EHMT1):c.3732G>C (p.Glu1244Asp) rs776780490 0.00001
NM_024757.5(EHMT1):c.3744C>T (p.Asp1248=) rs947459099 0.00001
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) rs773781896 0.00001
NM_024757.5(EHMT1):c.3837G>A (p.Gln1279=) rs531878154 0.00001
NM_024757.5(EHMT1):c.3891C>T (p.Pro1297=) rs1220939158 0.00001
NM_024757.5(EHMT1):c.393C>T (p.Ala131=) rs766141140 0.00001
NM_024757.5(EHMT1):c.408C>G (p.Pro136=) rs1331621806 0.00001
NM_024757.5(EHMT1):c.510G>T (p.Gln170His) rs1308431693 0.00001
NM_024757.5(EHMT1):c.519C>T (p.Ala173=) rs767855452 0.00001
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441 0.00001
NM_024757.5(EHMT1):c.594C>G (p.Val198=) rs142027334 0.00001
NM_024757.5(EHMT1):c.595A>G (p.Lys199Glu) rs200623731 0.00001
NM_024757.5(EHMT1):c.624G>A (p.Pro208=) rs759629407 0.00001
NM_024757.5(EHMT1):c.651C>T (p.Ala217=) rs1007475711 0.00001
NM_024757.5(EHMT1):c.670G>A (p.Val224Ile) rs1288948653 0.00001
NM_024757.5(EHMT1):c.672T>C (p.Val224=) rs779765731 0.00001
NM_024757.5(EHMT1):c.751C>A (p.Pro251Thr) rs989056804 0.00001
NM_024757.5(EHMT1):c.823+14G>A rs754473199 0.00001
NM_024757.5(EHMT1):c.824-19C>A rs1021462492 0.00001
NM_024757.5(EHMT1):c.85+11T>C rs7039665 0.00001
NM_024757.5(EHMT1):c.85+8C>T rs760179312 0.00001
NM_024757.5(EHMT1):c.853G>C (p.Val285Leu) rs766083787 0.00001
NM_024757.5(EHMT1):c.86-16G>A rs368532132 0.00001
NM_024757.5(EHMT1):c.86-17C>T rs748450287 0.00001
NM_024757.5(EHMT1):c.86-5G>T rs371370370 0.00001
NM_024757.5(EHMT1):c.871C>A (p.Arg291=) rs137852714 0.00001
NM_024757.5(EHMT1):c.894G>A (p.Leu298=) rs758397921 0.00001
NM_024757.5(EHMT1):c.900T>C (p.Pro300=) rs1554858785 0.00001
NM_024757.5(EHMT1):c.981+16G>A rs774795859 0.00001
NM_024757.5(EHMT1):c.982-10C>T rs746250600 0.00001
NM_024757.5(EHMT1):c.999C>T (p.Gly333=) rs961766773 0.00001
NC_000009.11:g.(?_140728781)_(141016451_?)dup
NM_024757.5(EHMT1):c.*971dup rs563102749
NM_024757.5(EHMT1):c.1005C>T (p.Ser335=)
NM_024757.5(EHMT1):c.100G>T (p.Ala34Ser)
NM_024757.5(EHMT1):c.101C>T (p.Ala34Val) rs546468286
NM_024757.5(EHMT1):c.102C>G (p.Ala34=) rs202208554
NM_024757.5(EHMT1):c.102C>T (p.Ala34=) rs202208554
NM_024757.5(EHMT1):c.1032G>A (p.Leu344=) rs1462150039
NM_024757.5(EHMT1):c.103G>T (p.Asp35Tyr) rs371134699
NM_024757.5(EHMT1):c.1044G>T (p.Ser348=) rs1129767
NM_024757.5(EHMT1):c.104A>G (p.Asp35Gly) rs2135500273
NM_024757.5(EHMT1):c.1057_1080dup (p.Asp360_Gly361insSerGluGluLeuGluGluAspAsp)
NM_024757.5(EHMT1):c.107A>T (p.Glu36Val)
NM_024757.5(EHMT1):c.1085A>G (p.His362Arg)
NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly) rs797045552
NM_024757.5(EHMT1):c.1104C>G (p.Ala368=)
NM_024757.5(EHMT1):c.1106C>T (p.Ala369Val)
NM_024757.5(EHMT1):c.1113C>G (p.Pro371=)
NM_024757.5(EHMT1):c.1114A>T (p.Thr372Ser)
NM_024757.5(EHMT1):c.1143C>T (p.Ser381=)
NM_024757.5(EHMT1):c.1144A>G (p.Met382Val)
NM_024757.5(EHMT1):c.1161C>T (p.Arg387=) rs759417830
NM_024757.5(EHMT1):c.1170+12del
NM_024757.5(EHMT1):c.1170+15C>A
NM_024757.5(EHMT1):c.1170+5G>A rs750889672
NM_024757.5(EHMT1):c.1171-14G>A rs549814854
NM_024757.5(EHMT1):c.1171-14G>T
NM_024757.5(EHMT1):c.1171-18G>A
NM_024757.5(EHMT1):c.1171-6G>C rs2136189951
NM_024757.5(EHMT1):c.1177G>A (p.Gly393Arg)
NM_024757.5(EHMT1):c.117A>T (p.Ala39=) rs1945338301
NM_024757.5(EHMT1):c.1197G>A (p.Gln399=)
NM_024757.5(EHMT1):c.1203C>T (p.Ser401=) rs1426279991
NM_024757.5(EHMT1):c.1212C>T (p.Thr404=)
NM_024757.5(EHMT1):c.1233T>A (p.Gly411=)
NM_024757.5(EHMT1):c.1236C>T (p.Asp412=) rs374067222
NM_024757.5(EHMT1):c.1246C>T (p.Leu416=) rs2136190832
NM_024757.5(EHMT1):c.1248+12C>A rs377629839
NM_024757.5(EHMT1):c.1248+12C>T rs377629839
NM_024757.5(EHMT1):c.1248+13G>A rs768444103
NM_024757.5(EHMT1):c.1248+13G>C
NM_024757.5(EHMT1):c.1248+18C>T
NM_024757.5(EHMT1):c.1249-10G>T
NM_024757.5(EHMT1):c.1249-15C>T
NM_024757.5(EHMT1):c.1249-18G>C rs1421420707
NM_024757.5(EHMT1):c.1249-18G>T
NM_024757.5(EHMT1):c.1254G>A (p.Ser418=)
NM_024757.5(EHMT1):c.1272G>A (p.Lys424=) rs767202496
NM_024757.5(EHMT1):c.1274A>C (p.Lys425Thr)
NM_024757.5(EHMT1):c.1286G>C (p.Arg429Thr) rs1949204312
NM_024757.5(EHMT1):c.128_129delinsGT (p.Ala43Gly) rs386739686
NM_024757.5(EHMT1):c.1299C>A (p.Thr433=) rs374367377
NM_024757.5(EHMT1):c.1299C>T (p.Thr433=) rs374367377
NM_024757.5(EHMT1):c.129A>G (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.12C>A (p.Ala4=) rs931986426
NM_024757.5(EHMT1):c.1302C>T (p.Asp434=)
NM_024757.5(EHMT1):c.1303A>G (p.Ser435Gly) rs2136218962
NM_024757.5(EHMT1):c.1332G>A (p.Arg444=) rs1588533740
NM_024757.5(EHMT1):c.1344T>A (p.Ser448Arg) rs1192059382
NM_024757.5(EHMT1):c.1347A>G (p.Arg449=) rs2136219548
NM_024757.5(EHMT1):c.134A>G (p.Glu45Gly) rs1945341055
NM_024757.5(EHMT1):c.1365C>T (p.Ala455=)
NM_024757.5(EHMT1):c.1369+10G>A
NM_024757.5(EHMT1):c.1369+16G>C rs778642847
NM_024757.5(EHMT1):c.1369+16G>T rs778642847
NM_024757.5(EHMT1):c.1370-11T>C rs2136273111
NM_024757.5(EHMT1):c.1370-8A>G
NM_024757.5(EHMT1):c.1438A>G (p.Met480Val)
NM_024757.5(EHMT1):c.1448C>G (p.Ser483Cys)
NM_024757.5(EHMT1):c.1449T>A (p.Ser483=)
NM_024757.5(EHMT1):c.1455C>T (p.Asp485=)
NM_024757.5(EHMT1):c.1458C>A (p.Ser486=)
NM_024757.5(EHMT1):c.1468C>A (p.Arg490=)
NM_024757.5(EHMT1):c.1473C>A (p.Val491=) rs1427328285
NM_024757.5(EHMT1):c.147T>C (p.Ala49=)
NM_024757.5(EHMT1):c.1486T>C (p.Ser496Pro)
NM_024757.5(EHMT1):c.1501+15G>A
NM_024757.5(EHMT1):c.1502-18G>A rs2136355622
NM_024757.5(EHMT1):c.1502-5G>A rs1279037975
NM_024757.5(EHMT1):c.1502-5G>C rs1279037975
NM_024757.5(EHMT1):c.1502-5G>T
NM_024757.5(EHMT1):c.1510A>G (p.Asn504Asp)
NM_024757.5(EHMT1):c.1518A>G (p.Pro506=)
NM_024757.5(EHMT1):c.152A>G (p.Asp51Gly)
NM_024757.5(EHMT1):c.152A>T (p.Asp51Val)
NM_024757.5(EHMT1):c.1540C>G (p.Leu514Val)
NM_024757.5(EHMT1):c.1540C>T (p.Leu514Phe)
NM_024757.5(EHMT1):c.1546G>A (p.Glu516Lys) rs768537801
NM_024757.5(EHMT1):c.154G>T (p.Gly52Cys) rs200364530
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg) rs1287556019
NM_024757.5(EHMT1):c.1557C>G (p.Leu519=) rs1376714202
NM_024757.5(EHMT1):c.1557C>T (p.Leu519=)
NM_024757.5(EHMT1):c.1596C>T (p.Ile532=)
NM_024757.5(EHMT1):c.159G>A (p.Glu53=) rs202066668
NM_024757.5(EHMT1):c.1602A>G (p.Thr534=) rs1465798782
NM_024757.5(EHMT1):c.162C>G (p.Thr54=) rs200372336
NM_024757.5(EHMT1):c.162C>T (p.Thr54=) rs200372336
NM_024757.5(EHMT1):c.1647+12T>C
NM_024757.5(EHMT1):c.1647+9G>A rs768199995
NM_024757.5(EHMT1):c.1647+9G>C rs768199995
NM_024757.5(EHMT1):c.1647+9G>T
NM_024757.5(EHMT1):c.1648-20C>A rs12341990
NM_024757.5(EHMT1):c.164A>T (p.Asn55Ile)
NM_024757.5(EHMT1):c.1662A>G (p.Thr554=)
NM_024757.5(EHMT1):c.1668C>T (p.Ser556=) rs1588641990
NM_024757.5(EHMT1):c.1671G>C (p.Val557=) rs2136647365
NM_024757.5(EHMT1):c.1680T>C (p.Tyr560=)
NM_024757.5(EHMT1):c.1692C>T (p.Arg564=) rs1564735725
NM_024757.5(EHMT1):c.1698C>T (p.Ser566=)
NM_024757.5(EHMT1):c.1709C>T (p.Pro570Leu) rs1335055740
NM_024757.5(EHMT1):c.1713C>T (p.Leu571=) rs770898796
NM_024757.5(EHMT1):c.1717G>A (p.Val573Met)
NM_024757.5(EHMT1):c.1731C>T (p.Asp577=)
NM_024757.5(EHMT1):c.1735C>A (p.Arg579=)
NM_024757.5(EHMT1):c.1735C>T (p.Arg579Trp) rs761827857
NM_024757.5(EHMT1):c.1748T>G (p.Val583Gly)
NM_024757.5(EHMT1):c.1791+19A>G
NM_024757.5(EHMT1):c.1792-14C>T
NM_024757.5(EHMT1):c.1792-17T>C
NM_024757.5(EHMT1):c.1792-9C>A rs1554878665
NM_024757.5(EHMT1):c.1792-9C>T
NM_024757.5(EHMT1):c.1824C>T (p.Ser608=)
NM_024757.5(EHMT1):c.1848C>G (p.Asp616Glu)
NM_024757.5(EHMT1):c.1848C>T (p.Asp616=) rs772285124
NM_024757.5(EHMT1):c.1863C>G (p.Val621=) rs2136684375
NM_024757.5(EHMT1):c.1870G>A (p.Ala624Thr)
NM_024757.5(EHMT1):c.1870G>T (p.Ala624Ser) rs146905719
NM_024757.5(EHMT1):c.1872C>T (p.Ala624=)
NM_024757.5(EHMT1):c.1877A>G (p.Tyr626Cys)
NM_024757.5(EHMT1):c.189C>T (p.Ala63=) rs951129841
NM_024757.5(EHMT1):c.18C>G (p.Ala6=)
NM_024757.5(EHMT1):c.18C>T (p.Ala6=)
NM_024757.5(EHMT1):c.1908G>A (p.Lys636=)
NM_024757.5(EHMT1):c.1911C>G (p.Ala637=) rs2136685184
NM_024757.5(EHMT1):c.1918G>A (p.Val640Met)
NM_024757.5(EHMT1):c.191G>A (p.Ser64Asn) rs551992272
NM_024757.5(EHMT1):c.1962C>T (p.Val654=)
NM_024757.5(EHMT1):c.1966G>C (p.Gly656Arg) rs376445192
NM_024757.5(EHMT1):c.1A>G (p.Met1Val) rs1410326559
NM_024757.5(EHMT1):c.2001C>T (p.Ala667=)
NM_024757.5(EHMT1):c.2010A>T (p.Thr670=) rs370681959
NM_024757.5(EHMT1):c.2012C>T (p.Thr671Met)
NM_024757.5(EHMT1):c.2018+14G>A rs2136687487
NM_024757.5(EHMT1):c.2018+17C>G
NM_024757.5(EHMT1):c.2018+20G>A rs1018417415
NM_024757.5(EHMT1):c.2019-17G>A rs375371535
NM_024757.5(EHMT1):c.2019-17G>C
NM_024757.5(EHMT1):c.2019-19C>A
NM_024757.5(EHMT1):c.2019-19C>G rs2136709094
NM_024757.5(EHMT1):c.2019-6C>T
NM_024757.5(EHMT1):c.2019-8C>T
NM_024757.5(EHMT1):c.2023_2024delinsCT (p.Ala675Leu)
NM_024757.5(EHMT1):c.202A>C (p.Asn68His)
NM_024757.5(EHMT1):c.2034A>G (p.Pro678=)
NM_024757.5(EHMT1):c.2036T>C (p.Leu679Pro)
NM_024757.5(EHMT1):c.2067C>T (p.Ala689=)
NM_024757.5(EHMT1):c.2073C>A (p.His691Gln) rs527346049
NM_024757.5(EHMT1):c.2073C>T (p.His691=) rs527346049
NM_024757.5(EHMT1):c.2074G>A (p.Val692Met) rs770534271
NM_024757.5(EHMT1):c.2076G>C (p.Val692=)
NM_024757.5(EHMT1):c.2094A>G (p.Pro698=) rs2136711276
NM_024757.5(EHMT1):c.21+10G>A
NM_024757.5(EHMT1):c.21+13G>A
NM_024757.5(EHMT1):c.21+14C>G rs1349814183
NM_024757.5(EHMT1):c.21+14C>T
NM_024757.5(EHMT1):c.21+14_21+22dup rs1455373078
NM_024757.5(EHMT1):c.21+14_21+23dup
NM_024757.5(EHMT1):c.21+15C>A
NM_024757.5(EHMT1):c.21+15C>G
NM_024757.5(EHMT1):c.21+15del
NM_024757.5(EHMT1):c.21+18C>G
NM_024757.5(EHMT1):c.21+19G>C rs1324498891
NM_024757.5(EHMT1):c.21+20G>T rs1026847466
NM_024757.5(EHMT1):c.21+21_21+38dup rs1842773075
NM_024757.5(EHMT1):c.21+22_21+42del rs1842772740
NM_024757.5(EHMT1):c.21+30_21+40del rs1048496544
NM_024757.5(EHMT1):c.21+30_21+40dup rs1048496544
NM_024757.5(EHMT1):c.21+7A>C
NM_024757.5(EHMT1):c.21+7_21+12del rs2133372043
NM_024757.5(EHMT1):c.21+8G>T
NM_024757.5(EHMT1):c.2109G>A (p.Gly703=)
NM_024757.5(EHMT1):c.210A>G (p.Ala70=) rs755866449
NM_024757.5(EHMT1):c.2149A>G (p.Lys717Glu) rs1951090718
NM_024757.5(EHMT1):c.2160G>A (p.Leu720=)
NM_024757.5(EHMT1):c.216C>A (p.His72Gln) rs374930132
NM_024757.5(EHMT1):c.216C>T (p.His72=) rs374930132
NM_024757.5(EHMT1):c.2175C>T (p.Ile725=) rs527754873
NM_024757.5(EHMT1):c.2181C>G (p.Leu727=) rs377163037
NM_024757.5(EHMT1):c.2193-4A>G rs2136763447
NM_024757.5(EHMT1):c.2193-7C>T rs1330848867
NM_024757.5(EHMT1):c.219T>A (p.Thr73=)
NM_024757.5(EHMT1):c.22-17T>C rs1588289493
NM_024757.5(EHMT1):c.22-6dup
NM_024757.5(EHMT1):c.22-9C>T rs1944652480
NM_024757.5(EHMT1):c.2208C>T (p.Arg736=) rs751915940
NM_024757.5(EHMT1):c.2226G>A (p.Leu742=)
NM_024757.5(EHMT1):c.2235C>T (p.Ser745=)
NM_024757.5(EHMT1):c.224A>G (p.Asp75Gly) rs757476606
NM_024757.5(EHMT1):c.2257A>G (p.Lys753Glu) rs1951234863
NM_024757.5(EHMT1):c.225C>T (p.Asp75=) rs984124935
NM_024757.5(EHMT1):c.2262G>A (p.Val754=)
NM_024757.5(EHMT1):c.2265C>G (p.Leu755=)
NM_024757.5(EHMT1):c.2268C>T (p.Leu756=)
NM_024757.5(EHMT1):c.2275+9C>T
NM_024757.5(EHMT1):c.2276-12G>A rs2136891900
NM_024757.5(EHMT1):c.2276-20A>G
NM_024757.5(EHMT1):c.2276T>G (p.Val759Gly) rs746824538
NM_024757.5(EHMT1):c.2322C>T (p.Arg774=) rs953079844
NM_024757.5(EHMT1):c.2331G>A (p.Leu777=)
NM_024757.5(EHMT1):c.233G>T (p.Arg78Met) rs750735802
NM_024757.5(EHMT1):c.237C>G (p.Val79=) rs766085475
NM_024757.5(EHMT1):c.2382+12C>G
NM_024757.5(EHMT1):c.2382+16G>A
NM_024757.5(EHMT1):c.2382+16G>C rs571964733
NM_024757.5(EHMT1):c.2382+19C>G
NM_024757.5(EHMT1):c.2383-16del
NM_024757.5(EHMT1):c.2383-18G>C
NM_024757.5(EHMT1):c.2383-7T>C
NM_024757.5(EHMT1):c.239A>G (p.Asn80Ser)
NM_024757.5(EHMT1):c.2403C>A (p.Thr801=)
NM_024757.5(EHMT1):c.241C>T (p.Pro81Ser)
NM_024757.5(EHMT1):c.2421G>A (p.Arg807=) rs149734423
NM_024757.5(EHMT1):c.2424C>G (p.Thr808=)
NM_024757.5(EHMT1):c.2439A>G (p.Ala813=)
NM_024757.5(EHMT1):c.243C>T (p.Pro81=)
NM_024757.5(EHMT1):c.2442C>G (p.Ala814=) rs772286870
NM_024757.5(EHMT1):c.2448C>T (p.Asn816=)
NM_024757.5(EHMT1):c.2472C>T (p.Tyr824=) rs2137109674
NM_024757.5(EHMT1):c.2487G>C (p.Gly829=)
NM_024757.5(EHMT1):c.2491C>T (p.Leu831=)
NM_024757.5(EHMT1):c.2493G>C (p.Leu831=) rs1564768555
NM_024757.5(EHMT1):c.2505+12T>G
NM_024757.5(EHMT1):c.2505+13G>C
NM_024757.5(EHMT1):c.2506-14C>T
NM_024757.5(EHMT1):c.2506-15G>A
NM_024757.5(EHMT1):c.2506-17del
NM_024757.5(EHMT1):c.2506-19A>T
NM_024757.5(EHMT1):c.2523G>T (p.Thr841=) rs374867415
NM_024757.5(EHMT1):c.252C>T (p.Gly84=)
NM_024757.5(EHMT1):c.2533C>G (p.Leu845Val) rs555717505
NM_024757.5(EHMT1):c.2535G>T (p.Leu845=)
NM_024757.5(EHMT1):c.255C>G (p.Thr85=) rs1588326707
NM_024757.5(EHMT1):c.2563G>A (p.Val855Ile)
NM_024757.5(EHMT1):c.2572C>T (p.Leu858=) rs1451911017
NM_024757.5(EHMT1):c.2574G>A (p.Leu858=)
NM_024757.5(EHMT1):c.2577T>G (p.Leu859=) rs751868898
NM_024757.5(EHMT1):c.2607+11C>T
NM_024757.5(EHMT1):c.2607+14C>T
NM_024757.5(EHMT1):c.2607+15del
NM_024757.5(EHMT1):c.2607+7C>G rs930024248
NM_024757.5(EHMT1):c.2607+7C>T rs930024248
NM_024757.5(EHMT1):c.2608-17G>A
NM_024757.5(EHMT1):c.2608-4del
NM_024757.5(EHMT1):c.261A>G (p.Thr87=)
NM_024757.5(EHMT1):c.2646G>A (p.Glu882=) rs2137381773
NM_024757.5(EHMT1):c.2655C>T (p.His885=) rs988905804
NM_024757.5(EHMT1):c.2664C>G (p.Leu888=)
NM_024757.5(EHMT1):c.2664C>T (p.Leu888=) rs200849773
NM_024757.5(EHMT1):c.2683A>G (p.Lys895Glu) rs1221448951
NM_024757.5(EHMT1):c.268C>A (p.Arg90=)
NM_024757.5(EHMT1):c.269G>A (p.Arg90Gln)
NM_024757.5(EHMT1):c.269G>C (p.Arg90Pro)
NM_024757.5(EHMT1):c.2703C>T (p.Ile901=) rs2137383314
NM_024757.5(EHMT1):c.2712+14_2712+15del
NM_024757.5(EHMT1):c.2712+20C>T
NM_024757.5(EHMT1):c.2712+5G>C rs2137383678
NM_024757.5(EHMT1):c.2712+7T>G rs2137383730
NM_024757.5(EHMT1):c.2713-10G>A
NM_024757.5(EHMT1):c.2713-15C>T
NM_024757.5(EHMT1):c.2713-3C>G rs2137670642
NM_024757.5(EHMT1):c.2721C>T (p.Asn907=) rs2137670747
NM_024757.5(EHMT1):c.2742G>A (p.Ala914=) rs751905570
NM_024757.5(EHMT1):c.276G>T (p.Ala92=) rs376810828
NM_024757.5(EHMT1):c.2779G>T (p.Ala927Ser) rs776944419
NM_024757.5(EHMT1):c.2790C>T (p.Cys930=) rs146497113
NM_024757.5(EHMT1):c.2800G>A (p.Ala934Thr)
NM_024757.5(EHMT1):c.2802C>G (p.Ala934=) rs142883326
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) rs762121901
NM_024757.5(EHMT1):c.2805G>A (p.Val935=) rs2137672261
NM_024757.5(EHMT1):c.2822C>T (p.Ser941Leu)
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) rs797045555
NM_024757.5(EHMT1):c.2847G>A (p.Glu949=)
NM_024757.5(EHMT1):c.2851C>T (p.Arg951Cys)
NM_024757.5(EHMT1):c.2865C>T (p.Val955=) rs749354858
NM_024757.5(EHMT1):c.2867+13C>A
NM_024757.5(EHMT1):c.2867+14T>G
NM_024757.5(EHMT1):c.2867+18C>T
NM_024757.5(EHMT1):c.2867+9A>G
NM_024757.5(EHMT1):c.2868-7C>T
NM_024757.5(EHMT1):c.2868-8C>T rs751345277
NM_024757.5(EHMT1):c.2877T>C (p.Leu959=)
NM_024757.5(EHMT1):c.2927T>C (p.Leu976Pro)
NM_024757.5(EHMT1):c.2931G>A (p.Gln977=) rs1343974100
NM_024757.5(EHMT1):c.2936C>T (p.Ala979Val) rs761061204
NM_024757.5(EHMT1):c.294A>G (p.Glu98=)
NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) rs781254508
NM_024757.5(EHMT1):c.2994G>A (p.Ser998=) rs778296046
NM_024757.5(EHMT1):c.3003C>T (p.Asp1001=) rs1208722946
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3015C>T (p.Pro1005=) rs773020101
NM_024757.5(EHMT1):c.3021G>A (p.Glu1007=) rs1166402157
NM_024757.5(EHMT1):c.3029T>G (p.Val1010Gly) rs2137714971
NM_024757.5(EHMT1):c.3035+13C>G
NM_024757.5(EHMT1):c.3035+15A>G
NM_024757.5(EHMT1):c.3035+19C>G rs369539861
NM_024757.5(EHMT1):c.3035+19C>T
NM_024757.5(EHMT1):c.3036-10T>A
NM_024757.5(EHMT1):c.3036-17T>C rs1482543233
NM_024757.5(EHMT1):c.3036-20A>C
NM_024757.5(EHMT1):c.3036-4G>A rs2137721865
NM_024757.5(EHMT1):c.3042C>A (p.Ile1014=)
NM_024757.5(EHMT1):c.3047G>A (p.Arg1016Gln)
NM_024757.5(EHMT1):c.3053A>G (p.Tyr1018Cys) rs2137722369
NM_024757.5(EHMT1):c.305A>T (p.Glu102Val)
NM_024757.5(EHMT1):c.3064C>T (p.Pro1022Ser)
NM_024757.5(EHMT1):c.3075T>C (p.Cys1025=) rs2137723127
NM_024757.5(EHMT1):c.3084C>T (p.Ala1028=) rs1184645526
NM_024757.5(EHMT1):c.3102C>T (p.Cys1034=) rs1954658156
NM_024757.5(EHMT1):c.3121G>A (p.Val1041Ile)
NM_024757.5(EHMT1):c.3123C>G (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3123C>T (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3132C>T (p.Asn1044=)
NM_024757.5(EHMT1):c.3141G>T (p.Thr1047=) rs146191149
NM_024757.5(EHMT1):c.3144C>T (p.Ser1048=)
NM_024757.5(EHMT1):c.3153C>T (p.Asn1051=)
NM_024757.5(EHMT1):c.3165T>C (p.Asn1055=)
NM_024757.5(EHMT1):c.3177G>A (p.Leu1059=)
NM_024757.5(EHMT1):c.3180+19A>C
NM_024757.5(EHMT1):c.3180+8A>G rs2137725905
NM_024757.5(EHMT1):c.3181-14G>A
NM_024757.5(EHMT1):c.3181-16G>C
NM_024757.5(EHMT1):c.3181-16del
NM_024757.5(EHMT1):c.3181-20C>T rs1029242400
NM_024757.5(EHMT1):c.3181-8C>A
NM_024757.5(EHMT1):c.3183C>T (p.Tyr1061=) rs1554896995
NM_024757.5(EHMT1):c.3187G>A (p.Val1063Met)
NM_024757.5(EHMT1):c.321C>T (p.Asn107=) rs554656861
NM_024757.5(EHMT1):c.322C>T (p.His108Tyr) rs1329664706
NM_024757.5(EHMT1):c.324C>G (p.His108Gln) rs574402576
NM_024757.5(EHMT1):c.324C>T (p.His108=) rs574402576
NM_024757.5(EHMT1):c.3258+10G>A
NM_024757.5(EHMT1):c.3258+12C>T
NM_024757.5(EHMT1):c.3258+13T>C
NM_024757.5(EHMT1):c.3259-13C>T rs2132757961
NM_024757.5(EHMT1):c.3270C>G (p.Leu1090=)
NM_024757.5(EHMT1):c.3274C>T (p.Pro1092Ser)
NM_024757.5(EHMT1):c.3276A>G (p.Pro1092=)
NM_024757.5(EHMT1):c.3290C>T (p.Ala1097Val)
NM_024757.5(EHMT1):c.3298C>T (p.Pro1100Ser)
NM_024757.5(EHMT1):c.3309C>T (p.Phe1103=) rs758005227
NM_024757.5(EHMT1):c.3316A>G (p.Asn1106Asp) rs2132759158
NM_024757.5(EHMT1):c.3324G>T (p.Ala1108=)
NM_024757.5(EHMT1):c.3329C>T (p.Ser1110Phe) rs780102096
NM_024757.5(EHMT1):c.3339G>T (p.Arg1113Ser) rs1295212768
NM_024757.5(EHMT1):c.333C>G (p.Ala111=) rs368961311
NM_024757.5(EHMT1):c.3354C>G (p.Arg1118=)
NM_024757.5(EHMT1):c.335A>T (p.Asp112Val) rs751483939
NM_024757.5(EHMT1):c.336C>T (p.Asp112=)
NM_024757.5(EHMT1):c.3372C>T (p.Leu1124=) rs1175117363
NM_024757.5(EHMT1):c.3374+8G>A
NM_024757.5(EHMT1):c.3374+9C>G rs765227211
NM_024757.5(EHMT1):c.3375-11C>T
NM_024757.5(EHMT1):c.3375-16A>G rs918854807
NM_024757.5(EHMT1):c.3375-9A>G rs73578877
NM_024757.5(EHMT1):c.3392A>G (p.Tyr1131Cys) rs753933684
NM_024757.5(EHMT1):c.3411C>G (p.Gly1137=) rs2132793128
NM_024757.5(EHMT1):c.3418G>A (p.Val1140Met) rs770731320
NM_024757.5(EHMT1):c.3421C>T (p.Arg1141Trp) rs780933084
NM_024757.5(EHMT1):c.3432G>A (p.Gln1144=)
NM_024757.5(EHMT1):c.345G>T (p.Val115=)
NM_024757.5(EHMT1):c.3461+14T>C
NM_024757.5(EHMT1):c.3461+16G>A
NM_024757.5(EHMT1):c.3461+18T>A
NM_024757.5(EHMT1):c.3461+19C>T rs765411944
NM_024757.5(EHMT1):c.3462-13G>T
NM_024757.5(EHMT1):c.3488C>T (p.Ser1163Leu)
NM_024757.5(EHMT1):c.3492A>G (p.Glu1164=) rs2132809424
NM_024757.5(EHMT1):c.3494C>G (p.Ala1165Gly) rs2132809473
NM_024757.5(EHMT1):c.3516T>C (p.Ser1172=) rs957412530
NM_024757.5(EHMT1):c.3529C>T (p.Leu1177Phe) rs989804913
NM_024757.5(EHMT1):c.3531C>T (p.Leu1177=) rs367655246
NM_024757.5(EHMT1):c.3540+16G>A
NM_024757.5(EHMT1):c.3540+16G>C
NM_024757.5(EHMT1):c.3541-10C>T rs754200782
NM_024757.5(EHMT1):c.3541-12C>G
NM_024757.5(EHMT1):c.3541-12C>T rs546373723
NM_024757.5(EHMT1):c.3541-14T>G
NM_024757.5(EHMT1):c.3541-16G>T
NM_024757.5(EHMT1):c.3541-4G>A
NM_024757.5(EHMT1):c.3541-6C>T
NM_024757.5(EHMT1):c.3541-7C>T rs759218661
NM_024757.5(EHMT1):c.3561C>T (p.Ile1187=) rs1002117245
NM_024757.5(EHMT1):c.3570G>A (p.Arg1190=)
NM_024757.5(EHMT1):c.3570G>T (p.Arg1190=)
NM_024757.5(EHMT1):c.3573C>T (p.Phe1191=)
NM_024757.5(EHMT1):c.357C>T (p.Val119=)
NM_024757.5(EHMT1):c.3588C>T (p.Ser1196=) rs1314781297
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.3604C>T (p.His1202Tyr)
NM_024757.5(EHMT1):c.3606C>T (p.His1202=) rs771429616
NM_024757.5(EHMT1):c.360C>T (p.Ile120=)
NM_024757.5(EHMT1):c.3636G>A (p.Val1212=) rs2133153415
NM_024757.5(EHMT1):c.3657G>T (p.Leu1219=) rs2133153729
NM_024757.5(EHMT1):c.3666C>T (p.Pro1222=)
NM_024757.5(EHMT1):c.3667C>T (p.Arg1223Trp) rs1956459070
NM_024757.5(EHMT1):c.3669G>A (p.Arg1223=) rs2133153982
NM_024757.5(EHMT1):c.3670A>C (p.Ile1224Leu) rs892250040
NM_024757.5(EHMT1):c.3672C>A (p.Ile1224=) rs150555158
NM_024757.5(EHMT1):c.3672C>T (p.Ile1224=) rs150555158
NM_024757.5(EHMT1):c.3675C>T (p.Ala1225=)
NM_024757.5(EHMT1):c.3687C>G (p.Thr1229=)
NM_024757.5(EHMT1):c.3688C>A (p.Arg1230Ser)
NM_024757.5(EHMT1):c.3693G>C (p.Leu1231=)
NM_024757.5(EHMT1):c.36G>A (p.Arg12=)
NM_024757.5(EHMT1):c.3701C>T (p.Ala1234Val)
NM_024757.5(EHMT1):c.3702C>T (p.Ala1234=)
NM_024757.5(EHMT1):c.3714C>G (p.Leu1238=) rs756105431
NM_024757.5(EHMT1):c.3714C>T (p.Leu1238=)
NM_024757.5(EHMT1):c.3716+13C>T rs2133155301
NM_024757.5(EHMT1):c.3716+19C>G
NM_024757.5(EHMT1):c.3717-13G>A
NM_024757.5(EHMT1):c.3717-13G>C
NM_024757.5(EHMT1):c.3717-18G>A
NM_024757.5(EHMT1):c.3717-18G>T
NM_024757.5(EHMT1):c.3717-4C>A
NM_024757.5(EHMT1):c.3717-5C>G
NM_024757.5(EHMT1):c.3717-5C>T
NM_024757.5(EHMT1):c.3717-6C>A
NM_024757.5(EHMT1):c.3717-7T>A
NM_024757.5(EHMT1):c.3719T>A (p.Phe1240Tyr) rs1956487275
NM_024757.5(EHMT1):c.3723C>T (p.Asp1241=)
NM_024757.5(EHMT1):c.372A>C (p.Gly124=)
NM_024757.5(EHMT1):c.3732G>A (p.Glu1244=) rs776780490
NM_024757.5(EHMT1):c.3742G>C (p.Asp1248His) rs1956488608
NM_024757.5(EHMT1):c.3747C>T (p.Ile1249=) rs1554908854
NM_024757.5(EHMT1):c.3750A>G (p.Lys1250=)
NM_024757.5(EHMT1):c.3758T>C (p.Leu1253Pro) rs1588949577
NM_024757.5(EHMT1):c.3759C>T (p.Leu1253=)
NM_024757.5(EHMT1):c.3780C>G (p.Ser1260=)
NM_024757.5(EHMT1):c.3782C>G (p.Pro1261Arg) rs754425408
NM_024757.5(EHMT1):c.3801C>G (p.Ser1267Arg)
NM_024757.5(EHMT1):c.3804G>T (p.Ala1268=) rs775375874
NM_024757.5(EHMT1):c.3808C>T (p.Leu1270=) rs2133162097
NM_024757.5(EHMT1):c.380T>C (p.Leu127Ser)
NM_024757.5(EHMT1):c.3818G>A (p.Arg1273His) rs1564847357
NM_024757.5(EHMT1):c.3819T>C (p.Arg1273=) rs1956494375
NM_024757.5(EHMT1):c.3824C>G (p.Ala1275Gly)
NM_024757.5(EHMT1):c.3828C>G (p.Ser1276Arg)
NM_024757.5(EHMT1):c.3833CCCAGGAGG[3] (p.1278AQE[3]) rs751283937
NM_024757.5(EHMT1):c.3840G>A (p.Glu1280=)
NM_024757.5(EHMT1):c.3849G>A (p.Glu1283=)
NM_024757.5(EHMT1):c.384T>C (p.Asn128=)
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)
NM_024757.5(EHMT1):c.3854G>A (p.Gly1285Asp)
NM_024757.5(EHMT1):c.3861C>A (p.Pro1287=) rs778272171
NM_024757.5(EHMT1):c.3861C>G (p.Pro1287=) rs778272171
NM_024757.5(EHMT1):c.3861C>T (p.Pro1287=) rs778272171
NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=) rs797045556
NM_024757.5(EHMT1):c.3879T>A (p.Ala1293=)
NM_024757.5(EHMT1):c.3879_3881del (p.Ala1295del)
NM_024757.5(EHMT1):c.3883G>T (p.Ala1295Ser) rs775220788
NM_024757.5(EHMT1):c.3885C>T (p.Ala1295=)
NM_024757.5(EHMT1):c.3886G>A (p.Asp1296Asn)
NM_024757.5(EHMT1):c.3891C>G (p.Pro1297=)
NM_024757.5(EHMT1):c.389C>T (p.Pro130Leu)
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del) rs1588328189
NM_024757.5(EHMT1):c.390G>T (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.396_397delinsTG (p.Gln133Glu) rs1554846569
NM_024757.5(EHMT1):c.39G>A (p.Gly13=)
NM_024757.5(EHMT1):c.40G>A (p.Glu14Lys) rs751473920
NM_024757.5(EHMT1):c.432C>G (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.439C>G (p.Leu147Val) rs2135508783
NM_024757.5(EHMT1):c.451G>C (p.Ala151Pro)
NM_024757.5(EHMT1):c.462C>T (p.Thr154=)
NM_024757.5(EHMT1):c.466C>G (p.Pro156Ala) rs199913017
NM_024757.5(EHMT1):c.466C>T (p.Pro156Ser) rs199913017
NM_024757.5(EHMT1):c.474G>A (p.Gly158=)
NM_024757.5(EHMT1):c.474G>T (p.Gly158=)
NM_024757.5(EHMT1):c.482A>C (p.Lys161Thr)
NM_024757.5(EHMT1):c.483A>T (p.Lys161Asn) rs1260298730
NM_024757.5(EHMT1):c.486C>G (p.Gly162=)
NM_024757.5(EHMT1):c.501T>C (p.Ala167=) rs1945391584
NM_024757.5(EHMT1):c.511A>C (p.Thr171Pro)
NM_024757.5(EHMT1):c.514C>T (p.Pro172Ser) rs774693715
NM_024757.5(EHMT1):c.519C>A (p.Ala173=) rs767855452
NM_024757.5(EHMT1):c.520G>A (p.Ala174Thr) rs145055789
NM_024757.5(EHMT1):c.526C>A (p.Pro176Thr) rs34704821
NM_024757.5(EHMT1):c.540G>A (p.Gly180=)
NM_024757.5(EHMT1):c.543G>A (p.Glu181=)
NM_024757.5(EHMT1):c.546G>T (p.Gly182=) rs767742300
NM_024757.5(EHMT1):c.54T>C (p.Asp18=)
NM_024757.5(EHMT1):c.567G>C (p.Arg189Ser) rs1588330108
NM_024757.5(EHMT1):c.579C>T (p.Ala193=)
NM_024757.5(EHMT1):c.587C>T (p.Ala196Val) rs1368780488
NM_024757.5(EHMT1):c.588C>T (p.Ala196=)
NM_024757.5(EHMT1):c.597G>A (p.Lys199=) rs1312496277
NM_024757.5(EHMT1):c.609A>C (p.Ala203=) rs2135512681
NM_024757.5(EHMT1):c.60T>C (p.Cys20=)
NM_024757.5(EHMT1):c.610C>T (p.Arg204Cys) rs773281923
NM_024757.5(EHMT1):c.618C>G (p.Thr206=)
NM_024757.5(EHMT1):c.636G>C (p.Val212=) rs1302822737
NM_024757.5(EHMT1):c.640C>T (p.Leu214=) rs2135513299
NM_024757.5(EHMT1):c.642+14T>G
NM_024757.5(EHMT1):c.642+18C>T
NM_024757.5(EHMT1):c.642+5T>G rs1945410126
NM_024757.5(EHMT1):c.643-13C>G rs2135782538
NM_024757.5(EHMT1):c.643-13C>T
NM_024757.5(EHMT1):c.643-19C>T
NM_024757.5(EHMT1):c.643-4G>A rs1308906609
NM_024757.5(EHMT1):c.643-9G>T
NM_024757.5(EHMT1):c.678A>G (p.Glu226=) rs1946812433
NM_024757.5(EHMT1):c.680C>A (p.Ala227Asp) rs541099226
NM_024757.5(EHMT1):c.6C>T (p.Ala2=)
NM_024757.5(EHMT1):c.729C>T (p.Asp243=) rs1946817147
NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg) rs775614771
NM_024757.5(EHMT1):c.755C>T (p.Pro252Leu) rs775614771
NM_024757.5(EHMT1):c.756C>G (p.Pro252=)
NM_024757.5(EHMT1):c.770A>G (p.His257Arg) rs370539232
NM_024757.5(EHMT1):c.776C>T (p.Ser259Leu) rs1469917649
NM_024757.5(EHMT1):c.777G>A (p.Ser259=) rs577929524
NM_024757.5(EHMT1):c.823+13C>T
NM_024757.5(EHMT1):c.823+14G>T
NM_024757.5(EHMT1):c.823+19C>T
NM_024757.5(EHMT1):c.824-16T>C
NM_024757.5(EHMT1):c.824-19del
NM_024757.5(EHMT1):c.824-4T>C rs544787491
NM_024757.5(EHMT1):c.829T>C (p.Leu277=) rs1294829299
NM_024757.5(EHMT1):c.85+10GT[3] rs781362713
NM_024757.5(EHMT1):c.85+12G>A rs1041168066
NM_024757.5(EHMT1):c.85+14G>A
NM_024757.5(EHMT1):c.85+15C>T rs751783332
NM_024757.5(EHMT1):c.85+18C>T
NM_024757.5(EHMT1):c.855A>G (p.Val285=)
NM_024757.5(EHMT1):c.86-15T>G
NM_024757.5(EHMT1):c.86-16G>T
NM_024757.5(EHMT1):c.86-16del
NM_024757.5(EHMT1):c.86-19C>G
NM_024757.5(EHMT1):c.86-8G>T rs1371128965
NM_024757.5(EHMT1):c.860G>A (p.Arg287Gln) rs759057973
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176
NM_024757.5(EHMT1):c.925C>G (p.Gln309Glu)
NM_024757.5(EHMT1):c.933G>T (p.Thr311=) rs748259939
NM_024757.5(EHMT1):c.969T>C (p.Thr323=)
NM_024757.5(EHMT1):c.981+10G>A
NM_024757.5(EHMT1):c.981+10G>C
NM_024757.5(EHMT1):c.981+19T>C
NM_024757.5(EHMT1):c.981+9C>A rs75421798
NM_024757.5(EHMT1):c.982-11C>T rs111985990
NM_024757.5(EHMT1):c.982-12C>G
NM_024757.5(EHMT1):c.982-13G>A
NM_024757.5(EHMT1):c.982-18C>T
NM_024757.5(EHMT1):c.982-4C>T rs1309661554
NM_024757.5(EHMT1):c.982-7G>A rs2136061744
NM_024757.5(EHMT1):c.982-9G>T rs368418026
NM_024757.5(EHMT1):c.982G>A (p.Gly328Arg) rs762417944
NM_024757.5(EHMT1):c.996G>A (p.Leu332=) rs2136062028
NM_024757.5(EHMT1):c.9C>A (p.Ala3=) rs925966891
NM_170606.3(KMT2C):c.1038G>A (p.Val346=) rs770240292
NM_170606.3(KMT2C):c.162-7del rs376309362
NM_170606.3(KMT2C):c.7236C>T (p.Pro2412=) rs140215243

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