ClinVar Miner

List of variants studied for Kabuki syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 670
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.4161+14T>C rs5952682 0.22765
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=) rs20539 0.16047
NM_001291415.2(KDM6A):c.2859-16T>C rs778778940 0.05699
NM_001291415.2(KDM6A):c.1999C>G (p.Leu667Val) rs112725812 0.00712
NM_001291415.2(KDM6A):c.2859-17T>C rs201108448 0.00674
NM_001291415.2(KDM6A):c.1897A>G (p.Thr633Ala) rs34922269 0.00625
NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=) rs142238688 0.00458
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=) rs138989066 0.00426
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_001291415.2(KDM6A):c.2859-5T>C rs747739852 0.00254
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr) rs6529 0.00208
NM_001291415.2(KDM6A):c.749-17T>A rs190081920 0.00095
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu) rs141303384 0.00073
NM_001291415.2(KDM6A):c.1194+17G>A rs371918621 0.00061
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332 0.00048
NM_001291415.2(KDM6A):c.1683+20C>T rs557391484 0.00046
NM_001291415.2(KDM6A):c.3301-16T>G rs201370572 0.00030
NM_001291415.2(KDM6A):c.2487T>A (p.Asn829Lys) rs148434372 0.00026
NM_001291415.2(KDM6A):c.1284C>T (p.Pro428=) rs147633358 0.00021
NM_001291415.2(KDM6A):c.3300+11G>A rs377090958 0.00021
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser) rs200638114 0.00020
NM_001291415.2(KDM6A):c.2421G>A (p.Thr807=) rs374758648 0.00015
NM_001291415.2(KDM6A):c.2900T>C (p.Leu967Ser) rs199761905 0.00015
NM_001291415.2(KDM6A):c.2024A>C (p.Asn675Thr) rs760145252 0.00013
NM_001291415.2(KDM6A):c.3095-18A>G rs775747385 0.00011
NM_001291415.2(KDM6A):c.1671G>C (p.Met557Ile) rs368984079 0.00010
NM_001291415.2(KDM6A):c.3955A>G (p.Ile1319Val) rs372785727 0.00010
NM_001291415.2(KDM6A):c.3300+20A>C rs769466820 0.00009
NM_001291415.2(KDM6A):c.444-7C>T rs375045349 0.00008
NM_001291415.2(KDM6A):c.1812C>T (p.Ser604=) rs776420271 0.00007
NM_001291415.2(KDM6A):c.2799C>A (p.Ile933=) rs754951388 0.00007
NM_001291415.2(KDM6A):c.294A>G (p.Gln98=) rs200940558 0.00007
NM_001291415.2(KDM6A):c.3162A>G (p.Thr1054=) rs754639174 0.00007
NM_001291415.2(KDM6A):c.655-16T>C rs570077971 0.00007
NM_001291415.2(KDM6A):c.1948A>G (p.Ile650Val) rs762004743 0.00006
NM_001291415.2(KDM6A):c.2079+20C>T rs759523834 0.00006
NM_001291415.2(KDM6A):c.2346A>G (p.Thr782=) rs746903785 0.00006
NM_001291415.2(KDM6A):c.2961G>A (p.Lys987=) rs144564697 0.00006
NM_001291415.2(KDM6A):c.870C>T (p.Leu290=) rs369438801 0.00006
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His) rs369284316 0.00005
NM_001291415.2(KDM6A):c.2049G>A (p.Pro683=) rs748403617 0.00005
NM_001291415.2(KDM6A):c.2329T>C (p.Leu777=) rs757380047 0.00005
NM_001291415.2(KDM6A):c.2502C>T (p.Ala834=) rs965420348 0.00005
NM_001291415.2(KDM6A):c.2859-15T>C rs777284834 0.00005
NM_001291415.2(KDM6A):c.3440+20T>G rs374117421 0.00005
NM_001291415.2(KDM6A):c.443+17C>T rs765379617 0.00005
NM_001291415.2(KDM6A):c.49G>A (p.Ala17Thr) rs1018780128 0.00005
NM_001291415.2(KDM6A):c.876-16T>C rs764995519 0.00005
NM_001291415.2(KDM6A):c.1582-14T>G rs752540909 0.00004
NM_001291415.2(KDM6A):c.3423C>T (p.Asp1141=) rs781105490 0.00004
NM_001291415.2(KDM6A):c.4135C>G (p.Pro1379Ala) rs370883451 0.00004
NM_001291415.2(KDM6A):c.624A>G (p.Gln208=) rs200602649 0.00004
NM_001291415.2(KDM6A):c.1153A>G (p.Ser385Gly) rs762278314 0.00003
NM_001291415.2(KDM6A):c.1219G>A (p.Gly407Ser) rs1016586399 0.00003
NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp) rs923984398 0.00003
NM_001291415.2(KDM6A):c.1581+6T>C rs765678568 0.00003
NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His) rs763587293 0.00003
NM_001291415.2(KDM6A):c.1730A>C (p.Asn577Thr) rs1359864920 0.00003
NM_001291415.2(KDM6A):c.1832G>A (p.Arg611His) rs765071454 0.00003
NM_001291415.2(KDM6A):c.2017C>T (p.Arg673Cys) rs139486036 0.00003
NM_001291415.2(KDM6A):c.2180G>A (p.Gly727Asp) rs759576784 0.00003
NM_001291415.2(KDM6A):c.2637A>G (p.Thr879=) rs774419812 0.00003
NM_001291415.2(KDM6A):c.335-20C>T rs371294715 0.00003
NM_001291415.2(KDM6A):c.3405G>A (p.Lys1135=) rs371140397 0.00003
NM_001291415.2(KDM6A):c.384+10C>T rs767711383 0.00003
NM_001291415.2(KDM6A):c.4053T>C (p.Thr1351=) rs769136401 0.00003
NM_001291415.2(KDM6A):c.4101A>G (p.Lys1367=) rs766561203 0.00003
NM_001291415.2(KDM6A):c.619+16T>C rs1009865150 0.00003
NM_001291415.2(KDM6A):c.654+18T>C rs761988382 0.00003
NM_001291415.2(KDM6A):c.1038A>G (p.Gln346=) rs753101387 0.00002
NM_001291415.2(KDM6A):c.1634T>G (p.Leu545Arg) rs1235361183 0.00002
NM_001291415.2(KDM6A):c.1952C>T (p.Thr651Ile) rs773022554 0.00002
NM_001291415.2(KDM6A):c.203G>C (p.Arg68Thr) rs751146386 0.00002
NM_001291415.2(KDM6A):c.2306A>C (p.Glu769Ala) rs887019370 0.00002
NM_001291415.2(KDM6A):c.2355C>T (p.His785=) rs775969133 0.00002
NM_001291415.2(KDM6A):c.2378C>T (p.Thr793Ile) rs200940701 0.00002
NM_001291415.2(KDM6A):c.2420C>T (p.Thr807Met) rs757564026 0.00002
NM_001291415.2(KDM6A):c.2436C>T (p.Cys812=) rs144511145 0.00002
NM_001291415.2(KDM6A):c.2629A>G (p.Thr877Ala) rs140562248 0.00002
NM_001291415.2(KDM6A):c.2888G>C (p.Ser963Thr) rs201673109 0.00002
NM_001291415.2(KDM6A):c.2899T>C (p.Leu967=) rs374328447 0.00002
NM_001291415.2(KDM6A):c.2970A>G (p.Pro990=) rs767248655 0.00002
NM_001291415.2(KDM6A):c.3045G>A (p.Pro1015=) rs760529172 0.00002
NM_001291415.2(KDM6A):c.3145A>G (p.Met1049Val) rs200457543 0.00002
NM_001291415.2(KDM6A):c.3365+20C>T rs770935771 0.00002
NM_001291415.2(KDM6A):c.3589+20A>G rs779956691 0.00002
NM_001291415.2(KDM6A):c.3589+5T>C rs972968488 0.00002
NM_001291415.2(KDM6A):c.3893-6T>C rs766167940 0.00002
NM_001291415.2(KDM6A):c.4217A>G (p.Tyr1406Cys) rs375096245 0.00002
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_001291415.2(KDM6A):c.4341A>G (p.Pro1447=) rs778920577 0.00002
NM_001291415.2(KDM6A):c.565-9G>A rs1171173147 0.00002
NM_001291415.2(KDM6A):c.643T>C (p.Tyr215His) rs1402339766 0.00002
NM_001291415.2(KDM6A):c.749-5dup rs757809203 0.00002
NM_001291415.2(KDM6A):c.918T>C (p.Ser306=) rs753152841 0.00002
NM_001291415.2(KDM6A):c.1178G>A (p.Arg393Gln) rs746746824 0.00001
NM_001291415.2(KDM6A):c.1486-12G>A rs762409573 0.00001
NM_001291415.2(KDM6A):c.1487A>G (p.Asn496Ser) rs768863219 0.00001
NM_001291415.2(KDM6A):c.1576T>G (p.Leu526Val) rs749218008 0.00001
NM_001291415.2(KDM6A):c.1711C>G (p.Arg571Gly) rs397514628 0.00001
NM_001291415.2(KDM6A):c.1837G>A (p.Ala613Thr) rs751034422 0.00001
NM_001291415.2(KDM6A):c.1991G>A (p.Arg664Gln) rs973676174 0.00001
NM_001291415.2(KDM6A):c.201C>T (p.Ala67=) rs377172165 0.00001
NM_001291415.2(KDM6A):c.2064A>C (p.Leu688=) rs772897984 0.00001
NM_001291415.2(KDM6A):c.2080G>T (p.Gly694Trp) rs2044718414 0.00001
NM_001291415.2(KDM6A):c.222C>G (p.Gly74=) rs1042038341 0.00001
NM_001291415.2(KDM6A):c.2410C>T (p.His804Tyr) rs753811835 0.00001
NM_001291415.2(KDM6A):c.2522A>G (p.Asn841Ser) rs747545667 0.00001
NM_001291415.2(KDM6A):c.2558A>G (p.Asn853Ser) rs1196875808 0.00001
NM_001291415.2(KDM6A):c.3146T>C (p.Met1049Thr) rs202194372 0.00001
NM_001291415.2(KDM6A):c.3348A>G (p.Glu1116=) rs375622972 0.00001
NM_001291415.2(KDM6A):c.3366-1G>A rs1374292312 0.00001
NM_001291415.2(KDM6A):c.3487C>T (p.Arg1163Cys) rs763592177 0.00001
NM_001291415.2(KDM6A):c.385-12C>T rs1160858937 0.00001
NM_001291415.2(KDM6A):c.3992G>A (p.Arg1331Gln) rs1473353111 0.00001
NM_001291415.2(KDM6A):c.4035-14C>T rs894854171 0.00001
NM_001291415.2(KDM6A):c.4075A>C (p.Arg1359=) rs1208237716 0.00001
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln) rs370765411 0.00001
NM_001291415.2(KDM6A):c.4254C>T (p.Ser1418=) rs377465023 0.00001
NM_001291415.2(KDM6A):c.4310A>T (p.Gln1437Leu) rs1472396434 0.00001
NM_001291415.2(KDM6A):c.4323A>G (p.Gln1441=) rs753713461 0.00001
NM_001291415.2(KDM6A):c.533A>G (p.Lys178Arg) rs758358984 0.00001
NM_001291415.2(KDM6A):c.663T>C (p.Tyr221=) rs755807604 0.00001
NM_001291415.2(KDM6A):c.706A>C (p.Asn236His) rs780484731 0.00001
NM_001291415.2(KDM6A):c.822A>G (p.Gln274=) rs181883752 0.00001
NM_001291415.2(KDM6A):c.857C>G (p.Ser286Cys) rs749431153 0.00001
NM_001291415.2(KDM6A):c.931A>G (p.Ile311Val) rs777683511 0.00001
NM_001291415.2(KDM6A):c.975-18C>A rs1361135215 0.00001
NC_000023.10:g.(?_43479884)_(45501849_?)del
NC_000023.10:g.(?_43479884)_(46741003_?)del
NC_000023.10:g.(?_43515590)_(44970656_?)del
NC_000023.10:g.(?_44732798)_(44733253_?)dup
NC_000023.10:g.(?_44732798)_(44945244_?)dup
NC_000023.10:g.(?_44732798)_(44950129_?)dup
NC_000023.10:g.(?_44732798)_(44970656_?)dup
NC_000023.10:g.(?_44820509)_(44896954_?)del
NC_000023.10:g.(?_44820509)_(44970656_?)dup
NC_000023.10:g.(?_44870186)_(44970656_?)dup
NC_000023.10:g.(?_44879835)_(44896954_?)del
NC_000023.10:g.(?_44894176)_(44896934_?)del
NC_000023.10:g.(?_44935922)_(44950129_?)del
NC_000023.10:g.(?_44935922)_(44970656_?)dup
NC_000023.10:g.(?_44941801)_(44945244_?)del
NM_001291415.2(KDM6A):c.101_102delinsTT (p.Ser34Ile)
NM_001291415.2(KDM6A):c.1043A>T (p.Asp348Val)
NM_001291415.2(KDM6A):c.1089A>G (p.Glu363=)
NM_001291415.2(KDM6A):c.1097A>G (p.Asn366Ser)
NM_001291415.2(KDM6A):c.1106A>G (p.Gln369Arg) rs1335822460
NM_001291415.2(KDM6A):c.1115T>C (p.Ile372Thr) rs2044211918
NM_001291415.2(KDM6A):c.1148G>C (p.Ser383Thr) rs2147962802
NM_001291415.2(KDM6A):c.1151G>T (p.Cys384Phe)
NM_001291415.2(KDM6A):c.1160C>A (p.Thr387Asn)
NM_001291415.2(KDM6A):c.1164del (p.Ala389fs)
NM_001291415.2(KDM6A):c.1177C>T (p.Arg393Ter) rs2147963446
NM_001291415.2(KDM6A):c.117C>T (p.Pro39=)
NM_001291415.2(KDM6A):c.1192C>T (p.Gln398Ter) rs2044215489
NM_001291415.2(KDM6A):c.1194+19A>G
NM_001291415.2(KDM6A):c.1194+4A>C
NM_001291415.2(KDM6A):c.1194+6A>G
NM_001291415.2(KDM6A):c.1194G>A (p.Gln398=)
NM_001291415.2(KDM6A):c.1195-14A>G
NM_001291415.2(KDM6A):c.1195G>A (p.Ala399Thr)
NM_001291415.2(KDM6A):c.1205G>A (p.Cys402Tyr)
NM_001291415.2(KDM6A):c.1214C>T (p.Pro405Leu) rs1556309489
NM_001291415.2(KDM6A):c.1215A>T (p.Pro405=)
NM_001291415.2(KDM6A):c.1259AGG[1] (p.Glu421del)
NM_001291415.2(KDM6A):c.1328A>G (p.Gln443Arg)
NM_001291415.2(KDM6A):c.1329+16A>T rs2147966824
NM_001291415.2(KDM6A):c.137G>A (p.Arg46Lys)
NM_001291415.2(KDM6A):c.140A>G (p.Glu47Gly) rs2031089646
NM_001291415.2(KDM6A):c.141G>A (p.Glu47=)
NM_001291415.2(KDM6A):c.1436A>C (p.Asp479Ala)
NM_001291415.2(KDM6A):c.1474A>T (p.Ser492Cys) rs1438320100
NM_001291415.2(KDM6A):c.147C>T (p.Leu49=)
NM_001291415.2(KDM6A):c.1486-12G>T rs762409573
NM_001291415.2(KDM6A):c.1486-18T>A
NM_001291415.2(KDM6A):c.1491T>G (p.Thr497=)
NM_001291415.2(KDM6A):c.1493C>G (p.Ser498Cys)
NM_001291415.2(KDM6A):c.1499A>G (p.Asn500Ser)
NM_001291415.2(KDM6A):c.1507G>A (p.Gly503Ser)
NM_001291415.2(KDM6A):c.150C>T (p.Gly50=)
NM_001291415.2(KDM6A):c.1529C>A (p.Pro510His)
NM_001291415.2(KDM6A):c.152G>C (p.Gly51Ala)
NM_001291415.2(KDM6A):c.152G>T (p.Gly51Val)
NM_001291415.2(KDM6A):c.1537C>T (p.Gln513Ter)
NM_001291415.2(KDM6A):c.154C>T (p.Leu52=)
NM_001291415.2(KDM6A):c.1552_1555dup (p.Trp519fs) rs1556311265
NM_001291415.2(KDM6A):c.1554A>G (p.Ser518=)
NM_001291415.2(KDM6A):c.156G>A (p.Leu52=)
NM_001291415.2(KDM6A):c.1577T>G (p.Leu526Ter)
NM_001291415.2(KDM6A):c.1581+10A>G
NM_001291415.2(KDM6A):c.1581+1G>T rs1602799769
NM_001291415.2(KDM6A):c.1581+20C>T
NM_001291415.2(KDM6A):c.1582-12TTC[2] rs764419475
NM_001291415.2(KDM6A):c.1590A>G (p.Glu530=)
NM_001291415.2(KDM6A):c.1597C>T (p.Arg533Cys)
NM_001291415.2(KDM6A):c.1599C>T (p.Arg533=)
NM_001291415.2(KDM6A):c.1600G>A (p.Ala534Thr)
NM_001291415.2(KDM6A):c.1600G>T (p.Ala534Ser)
NM_001291415.2(KDM6A):c.1601C>G (p.Ala534Gly)
NM_001291415.2(KDM6A):c.1605T>C (p.Asn535=)
NM_001291415.2(KDM6A):c.161+17C>T
NM_001291415.2(KDM6A):c.161+9C>T
NM_001291415.2(KDM6A):c.1613A>G (p.Asn538Ser) rs2147985031
NM_001291415.2(KDM6A):c.162-10G>A
NM_001291415.2(KDM6A):c.162-12C>G
NM_001291415.2(KDM6A):c.162-12_162-11del rs774436229
NM_001291415.2(KDM6A):c.162-17T>C
NM_001291415.2(KDM6A):c.162-17T>G
NM_001291415.2(KDM6A):c.162-18C>T
NM_001291415.2(KDM6A):c.162-5C>T rs2031150101
NM_001291415.2(KDM6A):c.1636A>T (p.Met546Leu)
NM_001291415.2(KDM6A):c.163C>T (p.Arg55Cys) rs1234030940
NM_001291415.2(KDM6A):c.1659G>T (p.Gln553His)
NM_001291415.2(KDM6A):c.1660T>C (p.Phe554Leu) rs2044353947
NM_001291415.2(KDM6A):c.1674A>G (p.Gln558=)
NM_001291415.2(KDM6A):c.1683+1G>T
NM_001291415.2(KDM6A):c.1684-18C>T rs2147989635
NM_001291415.2(KDM6A):c.1684-5G>T
NM_001291415.2(KDM6A):c.1699del (p.Val567fs) rs797045642
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.1712G>A (p.Arg571Gln)
NM_001291415.2(KDM6A):c.1712G>C (p.Arg571Pro) rs1459042930
NM_001291415.2(KDM6A):c.1719T>C (p.Thr573=)
NM_001291415.2(KDM6A):c.1730A>G (p.Asn577Ser)
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
NM_001291415.2(KDM6A):c.1744_1746dup (p.Asp582_Ser583insAsp)
NM_001291415.2(KDM6A):c.1747T>C (p.Ser583Pro) rs1194941930
NM_001291415.2(KDM6A):c.1762A>C (p.Asn588His)
NM_001291415.2(KDM6A):c.177C>G (p.Phe59Leu)
NM_001291415.2(KDM6A):c.1811G>C (p.Ser604Thr)
NM_001291415.2(KDM6A):c.1829T>C (p.Val610Ala)
NM_001291415.2(KDM6A):c.1835C>G (p.Pro612Arg)
NM_001291415.2(KDM6A):c.1850A>G (p.Gln617Arg) rs192637629
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_001291415.2(KDM6A):c.1896C>T (p.Ser632=)
NM_001291415.2(KDM6A):c.1902A>G (p.Ser634=) rs1602820109
NM_001291415.2(KDM6A):c.1916G>A (p.Ser639Asn)
NM_001291415.2(KDM6A):c.1918A>G (p.Thr640Ala) rs2044400766
NM_001291415.2(KDM6A):c.1962A>T (p.Gly654=)
NM_001291415.2(KDM6A):c.196G>A (p.Gly66Ser)
NM_001291415.2(KDM6A):c.1972A>G (p.Asn658Asp)
NM_001291415.2(KDM6A):c.197del (p.Gly66fs)
NM_001291415.2(KDM6A):c.1986G>C (p.Leu662=)
NM_001291415.2(KDM6A):c.1988A>G (p.Gln663Arg)
NM_001291415.2(KDM6A):c.1989G>A (p.Gln663=)
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291415.2(KDM6A):c.1996G>T (p.Ala666Ser)
NM_001291415.2(KDM6A):c.1998A>T (p.Ala666=)
NM_001291415.2(KDM6A):c.2002_2005del (p.Thr668fs) rs2044404250
NM_001291415.2(KDM6A):c.200C>T (p.Ala67Val)
NM_001291415.2(KDM6A):c.2016C>T (p.Asn672=)
NM_001291415.2(KDM6A):c.2018G>C (p.Arg673Pro)
NM_001291415.2(KDM6A):c.2032A>G (p.Ser678Gly)
NM_001291415.2(KDM6A):c.2038G>A (p.Ala680Thr) rs747505929
NM_001291415.2(KDM6A):c.2048C>T (p.Pro683Leu)
NM_001291415.2(KDM6A):c.2065T>C (p.Ser689Pro)
NM_001291415.2(KDM6A):c.2065_2068del (p.Ser689fs) rs398122969
NM_001291415.2(KDM6A):c.2067dup (p.Asn690Ter)
NM_001291415.2(KDM6A):c.2069A>G (p.Asn690Ser) rs2044408983
NM_001291415.2(KDM6A):c.2079+10_2079+12del rs1177394697
NM_001291415.2(KDM6A):c.2079+14T>C rs1972307267
NM_001291415.2(KDM6A):c.2079+1G>A
NM_001291415.2(KDM6A):c.2080-18A>G
NM_001291415.2(KDM6A):c.2089A>G (p.Lys697Glu)
NM_001291415.2(KDM6A):c.2090A>G (p.Lys697Arg)
NM_001291415.2(KDM6A):c.2108C>T (p.Ser703Leu)
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter) rs755440519
NM_001291415.2(KDM6A):c.2129G>A (p.Arg710Gln)
NM_001291415.2(KDM6A):c.2133T>C (p.Pro711=)
NM_001291415.2(KDM6A):c.2136C>G (p.Leu712=)
NM_001291415.2(KDM6A):c.2170G>A (p.Ala724Thr)
NM_001291415.2(KDM6A):c.2174G>A (p.Gly725Asp)
NM_001291415.2(KDM6A):c.2185C>G (p.Gln729Glu)
NM_001291415.2(KDM6A):c.2187G>A (p.Gln729=)
NM_001291415.2(KDM6A):c.2197G>A (p.Gly733Arg)
NM_001291415.2(KDM6A):c.2229A>G (p.Thr743=)
NM_001291415.2(KDM6A):c.2230C>T (p.Gln744Ter) rs2044726547
NM_001291415.2(KDM6A):c.2233G>T (p.Gly745Trp)
NM_001291415.2(KDM6A):c.2235G>A (p.Gly745=)
NM_001291415.2(KDM6A):c.2236G>A (p.Ala746Thr)
NM_001291415.2(KDM6A):c.225+14G>T
NM_001291415.2(KDM6A):c.225+16G>C
NM_001291415.2(KDM6A):c.225+19G>T rs758432529
NM_001291415.2(KDM6A):c.225+1G>A rs2146448773
NM_001291415.2(KDM6A):c.225+4dup
NM_001291415.2(KDM6A):c.2251C>T (p.Leu751Phe) rs2148039110
NM_001291415.2(KDM6A):c.2253C>T (p.Leu751=)
NM_001291415.2(KDM6A):c.2256C>T (p.Ser752=) rs2148039305
NM_001291415.2(KDM6A):c.2257_2260dup (p.His754fs) rs1556328781
NM_001291415.2(KDM6A):c.226-19T>C
NM_001291415.2(KDM6A):c.226-4C>A
NM_001291415.2(KDM6A):c.226-8A>G
NM_001291415.2(KDM6A):c.2269A>G (p.Thr757Ala)
NM_001291415.2(KDM6A):c.2276del (p.Gly759fs)
NM_001291415.2(KDM6A):c.2282A>G (p.Gln761Arg)
NM_001291415.2(KDM6A):c.2284C>A (p.Gln762Lys)
NM_001291415.2(KDM6A):c.2284C>T (p.Gln762Ter) rs1358181248
NM_001291415.2(KDM6A):c.2300C>T (p.Thr767Ile)
NM_001291415.2(KDM6A):c.2301C>T (p.Thr767=)
NM_001291415.2(KDM6A):c.2302A>G (p.Lys768Glu)
NM_001291415.2(KDM6A):c.2320G>C (p.Gly774Arg)
NM_001291415.2(KDM6A):c.2327T>C (p.Ile776Thr)
NM_001291415.2(KDM6A):c.232C>T (p.Arg78Cys)
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys) rs2230018
NM_001291415.2(KDM6A):c.2333C>T (p.Thr778Met) rs2230018
NM_001291415.2(KDM6A):c.2345C>G (p.Thr782Arg)
NM_001291415.2(KDM6A):c.2350A>G (p.Arg784Gly)
NM_001291415.2(KDM6A):c.2367_2368del (p.Thr789_Pro790insTer)
NM_001291415.2(KDM6A):c.2379dup (p.Ala794fs)
NM_001291415.2(KDM6A):c.2381C>T (p.Ala794Val)
NM_001291415.2(KDM6A):c.2389G>A (p.Glu797Lys)
NM_001291415.2(KDM6A):c.2405A>T (p.His802Leu) rs756545808
NM_001291415.2(KDM6A):c.2411A>G (p.His804Arg)
NM_001291415.2(KDM6A):c.2421G>T (p.Thr807=)
NM_001291415.2(KDM6A):c.2426A>T (p.Asp809Val)
NM_001291415.2(KDM6A):c.2428G>A (p.Ala810Thr)
NM_001291415.2(KDM6A):c.2430T>C (p.Ala810=) rs1219417623
NM_001291415.2(KDM6A):c.2432T>C (p.Val811Ala) rs190755933
NM_001291415.2(KDM6A):c.2447A>G (p.His816Arg) rs772552174
NM_001291415.2(KDM6A):c.2458A>G (p.Lys820Glu)
NM_001291415.2(KDM6A):c.2461T>C (p.Ser821Pro)
NM_001291415.2(KDM6A):c.2472A>G (p.Leu824=)
NM_001291415.2(KDM6A):c.2474T>C (p.Leu825Pro)
NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs) rs886039398
NM_001291415.2(KDM6A):c.2488C>G (p.Pro830Ala)
NM_001291415.2(KDM6A):c.2491C>T (p.Gln831Ter) rs2148047495
NM_001291415.2(KDM6A):c.2494C>G (p.Leu832Val) rs1429606535
NM_001291415.2(KDM6A):c.24C>G (p.Leu8=)
NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_001291415.2(KDM6A):c.2510T>C (p.Met837Thr)
NM_001291415.2(KDM6A):c.2519C>G (p.Ala840Gly) rs2044746153
NM_001291415.2(KDM6A):c.2523T>C (p.Asn841=)
NM_001291415.2(KDM6A):c.2526C>G (p.Asn842Lys)
NM_001291415.2(KDM6A):c.2527A>G (p.Asn843Asp)
NM_001291415.2(KDM6A):c.2528A>G (p.Asn843Ser)
NM_001291415.2(KDM6A):c.2534G>A (p.Gly845Asp)
NM_001291415.2(KDM6A):c.2543C>T (p.Thr848Ile)
NM_001291415.2(KDM6A):c.2552A>G (p.Lys851Arg)
NM_001291415.2(KDM6A):c.2579A>G (p.His860Arg) rs2044749099
NM_001291415.2(KDM6A):c.2584A>G (p.Lys862Glu) rs2148050387
NM_001291415.2(KDM6A):c.2595C>T (p.Asn865=)
NM_001291415.2(KDM6A):c.2597_2598del (p.Ser866fs) rs2148050812
NM_001291415.2(KDM6A):c.25G>C (p.Ala9Pro)
NM_001291415.2(KDM6A):c.2608del (p.Ser870fs) rs2044750709
NM_001291415.2(KDM6A):c.2618_2619del (p.Ser873fs) rs1556330304
NM_001291415.2(KDM6A):c.261T>C (p.Ala87=)
NM_001291415.2(KDM6A):c.261T>G (p.Ala87=)
NM_001291415.2(KDM6A):c.2640T>C (p.Pro880=)
NM_001291415.2(KDM6A):c.2667C>T (p.Thr889=)
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.2(KDM6A):c.2685C>T (p.Ser895=)
NM_001291415.2(KDM6A):c.2701A>T (p.Ser901Cys)
NM_001291415.2(KDM6A):c.2702G>A (p.Ser901Asn)
NM_001291415.2(KDM6A):c.2709A>G (p.Leu903=)
NM_001291415.2(KDM6A):c.2720A>G (p.Asn907Ser)
NM_001291415.2(KDM6A):c.2726A>G (p.Glu909Gly)
NM_001291415.2(KDM6A):c.2731A>C (p.Met911Leu)
NM_001291415.2(KDM6A):c.2740T>C (p.Ser914Pro)
NM_001291415.2(KDM6A):c.2748C>G (p.Ser916Arg)
NM_001291415.2(KDM6A):c.2752A>C (p.Met918Leu)
NM_001291415.2(KDM6A):c.2778C>T (p.Asn926=)
NM_001291415.2(KDM6A):c.2802_2803dup (p.Pro935fs) rs1602868720
NM_001291415.2(KDM6A):c.2815G>A (p.Val939Met)
NM_001291415.2(KDM6A):c.2821A>G (p.Ile941Val)
NM_001291415.2(KDM6A):c.2831G>T (p.Ser944Ile) rs938370546
NM_001291415.2(KDM6A):c.2847G>T (p.Leu949=)
NM_001291415.2(KDM6A):c.2858+12A>G
NM_001291415.2(KDM6A):c.2858+18C>G
NM_001291415.2(KDM6A):c.2858+1G>A rs2148058653
NM_001291415.2(KDM6A):c.2858+2T>C rs2148058668
NM_001291415.2(KDM6A):c.2859-12T>A rs2045135323
NM_001291415.2(KDM6A):c.2859-3dup rs1339863219
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-5dup rs10605935
NM_001291415.2(KDM6A):c.2859-6T>G
NM_001291415.2(KDM6A):c.2859-6_2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-7_2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859G>T (p.Arg953Ser)
NM_001291415.2(KDM6A):c.2863C>T (p.Leu955=)
NM_001291415.2(KDM6A):c.2865A>T (p.Leu955=)
NM_001291415.2(KDM6A):c.2883T>G (p.Ser961=)
NM_001291415.2(KDM6A):c.2890A>G (p.Ser964Gly)
NM_001291415.2(KDM6A):c.2891G>A (p.Ser964Asn)
NM_001291415.2(KDM6A):c.28_39del (p.Thr10_Ala13del)
NM_001291415.2(KDM6A):c.28_39dup (p.Thr10_Ala13dup) rs769370817
NM_001291415.2(KDM6A):c.28_42dup (p.Thr10_Ala14dup) rs2146441027
NM_001291415.2(KDM6A):c.2902G>A (p.Asp968Asn)
NM_001291415.2(KDM6A):c.2919A>G (p.Pro973=)
NM_001291415.2(KDM6A):c.2957A>G (p.Asp986Gly)
NM_001291415.2(KDM6A):c.2962T>C (p.Leu988=)
NM_001291415.2(KDM6A):c.2987dup (p.Tyr996Ter) rs2148102838
NM_001291415.2(KDM6A):c.2988+1G>A rs1135401809
NM_001291415.2(KDM6A):c.2988+1G>C rs1135401809
NM_001291415.2(KDM6A):c.2988+2dup rs797045643
NM_001291415.2(KDM6A):c.2988C>T (p.Tyr996=)
NM_001291415.2(KDM6A):c.2989-20C>T
NM_001291415.2(KDM6A):c.3033T>C (p.Phe1011=)
NM_001291415.2(KDM6A):c.3054T>C (p.Pro1018=)
NM_001291415.2(KDM6A):c.3058dup (p.Thr1020fs)
NM_001291415.2(KDM6A):c.3063A>C (p.Val1021=)
NM_001291415.2(KDM6A):c.3072C>G (p.Gly1024=)
NM_001291415.2(KDM6A):c.3074T>C (p.Leu1025Pro)
NM_001291415.2(KDM6A):c.308A>G (p.Asn103Ser)
NM_001291415.2(KDM6A):c.3094+12del rs2148113343
NM_001291415.2(KDM6A):c.3094+13T>C
NM_001291415.2(KDM6A):c.3094+15A>C
NM_001291415.2(KDM6A):c.3094+17A>T
NM_001291415.2(KDM6A):c.3094+2T>C rs1569537333
NM_001291415.2(KDM6A):c.3094+6C>T
NM_001291415.2(KDM6A):c.3094+7C>T
NM_001291415.2(KDM6A):c.3095-1G>T rs2045273679
NM_001291415.2(KDM6A):c.3095-6A>C rs2148117604
NM_001291415.2(KDM6A):c.3095-6A>G
NM_001291415.2(KDM6A):c.3101G>C (p.Gly1034Ala)
NM_001291415.2(KDM6A):c.3103C>T (p.Leu1035Phe)
NM_001291415.2(KDM6A):c.3115A>C (p.Lys1039Gln)
NM_001291415.2(KDM6A):c.3122T>C (p.Leu1041Ser) rs2148118256
NM_001291415.2(KDM6A):c.3136_3137delinsCG (p.Asn1046Arg)
NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter) rs1556341546
NM_001291415.2(KDM6A):c.3180A>G (p.Ala1060=)
NM_001291415.2(KDM6A):c.318G>A (p.Leu106=)
NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs) rs1602928108
NM_001291415.2(KDM6A):c.3206C>G (p.Thr1069Arg) rs754171997
NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly) rs2045279014
NM_001291415.2(KDM6A):c.3254C>A (p.Ala1085Asp)
NM_001291415.2(KDM6A):c.3255T>C (p.Ala1085=)
NM_001291415.2(KDM6A):c.3261T>C (p.Tyr1087=) rs867558265
NM_001291415.2(KDM6A):c.3277T>G (p.Ser1093Ala)
NM_001291415.2(KDM6A):c.3295T>C (p.Leu1099=) rs747260329
NM_001291415.2(KDM6A):c.3300+15C>T
NM_001291415.2(KDM6A):c.3300+1G>A rs1602928572
NM_001291415.2(KDM6A):c.3300+1del
NM_001291415.2(KDM6A):c.3301-18T>C
NM_001291415.2(KDM6A):c.3301-2A>G rs1195711941
NM_001291415.2(KDM6A):c.3301-3T>G
NM_001291415.2(KDM6A):c.3301G>A (p.Glu1101Lys) rs1271555870
NM_001291415.2(KDM6A):c.3309T>G (p.Asn1103Lys)
NM_001291415.2(KDM6A):c.330A>G (p.Pro110=)
NM_001291415.2(KDM6A):c.3315AAG[1] (p.Arg1106del)
NM_001291415.2(KDM6A):c.3325C>T (p.His1109Tyr)
NM_001291415.2(KDM6A):c.3336C>T (p.His1112=)
NM_001291415.2(KDM6A):c.334+11del
NM_001291415.2(KDM6A):c.334+1G>A
NM_001291415.2(KDM6A):c.3341_3344del (p.Asp1114fs) rs1556346208
NM_001291415.2(KDM6A):c.3347A>C (p.Glu1116Ala) rs2045465388
NM_001291415.2(KDM6A):c.335-13A>G
NM_001291415.2(KDM6A):c.3356C>T (p.Ser1119Leu) rs2045466032
NM_001291415.2(KDM6A):c.3357G>A (p.Ser1119=)
NM_001291415.2(KDM6A):c.3365+16T>A
NM_001291415.2(KDM6A):c.3365+2dup
NM_001291415.2(KDM6A):c.3365+9T>A
NM_001291415.2(KDM6A):c.3366-11del
NM_001291415.2(KDM6A):c.3366-18C>G
NM_001291415.2(KDM6A):c.3366-8T>A rs2045470468
NM_001291415.2(KDM6A):c.3371GGA[5] (p.Arg1127dup) rs1569538311
NM_001291415.2(KDM6A):c.3380G>A (p.Arg1127Lys)
NM_001291415.2(KDM6A):c.3384del (p.Gly1129fs) rs2148143831
NM_001291415.2(KDM6A):c.3407T>C (p.Phe1136Ser)
NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg) rs2045472713
NM_001291415.2(KDM6A):c.3414C>G (p.Thr1138=)
NM_001291415.2(KDM6A):c.3414C>T (p.Thr1138=) rs2045472846
NM_001291415.2(KDM6A):c.341C>T (p.Ser114Phe) rs767039378
NM_001291415.2(KDM6A):c.3426_3429del (p.Ser1143fs) rs2045473471
NM_001291415.2(KDM6A):c.3434A>C (p.Asp1145Ala)
NM_001291415.2(KDM6A):c.3440+10T>G rs2148145230
NM_001291415.2(KDM6A):c.3440+14_3440+16del rs1358314820
NM_001291415.2(KDM6A):c.3440+17A>C
NM_001291415.2(KDM6A):c.3465G>C (p.Leu1155=) rs961946514
NM_001291415.2(KDM6A):c.3478G>C (p.Ala1160Pro)
NM_001291415.2(KDM6A):c.3479C>T (p.Ala1160Val)
NM_001291415.2(KDM6A):c.3488G>A (p.Arg1163His)
NM_001291415.2(KDM6A):c.348C>A (p.Tyr116Ter) rs2147263638
NM_001291415.2(KDM6A):c.348C>T (p.Tyr116=)
NM_001291415.2(KDM6A):c.3493G>A (p.Val1165Ile)
NM_001291415.2(KDM6A):c.3494dup (p.Ser1166fs)
NM_001291415.2(KDM6A):c.349C>T (p.Gln117Ter)
NM_001291415.2(KDM6A):c.3507TCT[1] (p.Leu1171del) rs398122829
NM_001291415.2(KDM6A):c.3521T>C (p.Val1174Ala)
NM_001291415.2(KDM6A):c.3530C>T (p.Thr1177Ile)
NM_001291415.2(KDM6A):c.3541A>G (p.Met1181Val)
NM_001291415.2(KDM6A):c.357C>G (p.Tyr119Ter)
NM_001291415.2(KDM6A):c.3584C>T (p.Thr1195Ile)
NM_001291415.2(KDM6A):c.3589+10A>G
NM_001291415.2(KDM6A):c.3589+18A>C
NM_001291415.2(KDM6A):c.3590-2A>G rs2045619034
NM_001291415.2(KDM6A):c.359A>G (p.Tyr120Cys)
NM_001291415.2(KDM6A):c.3611T>G (p.Phe1204Cys)
NM_001291415.2(KDM6A):c.3613T>C (p.Cys1205Arg) rs1602965199
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr) rs1556350571
NM_001291415.2(KDM6A):c.3654G>C (p.Trp1218Cys)
NM_001291415.2(KDM6A):c.3677G>A (p.Trp1226Ter) rs746435548
NM_001291415.2(KDM6A):c.3682G>A (p.Val1228Ile) rs2148169594
NM_001291415.2(KDM6A):c.3704+12A>G
NM_001291415.2(KDM6A):c.3705-11dup rs746893662
NM_001291415.2(KDM6A):c.3710A>G (p.Asn1237Ser)
NM_001291415.2(KDM6A):c.3730T>A (p.Ser1244Thr) rs1602985775
NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu) rs1602985802
NM_001291415.2(KDM6A):c.3748G>C (p.Glu1250Gln)
NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe) rs1060499665
NM_001291415.2(KDM6A):c.3762A>C (p.Glu1254Asp)
NM_001291415.2(KDM6A):c.3773_3776dup (p.Tyr1260fs)
NM_001291415.2(KDM6A):c.378C>T (p.Tyr126=) rs2147263740
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg) rs797045644
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter) rs2148193855
NM_001291415.2(KDM6A):c.3810C>A (p.Val1270=)
NM_001291415.2(KDM6A):c.3838G>C (p.Val1280Leu)
NM_001291415.2(KDM6A):c.384+13T>A
NM_001291415.2(KDM6A):c.384+7G>A rs2039534127
NM_001291415.2(KDM6A):c.385-20C>T rs1408683309
NM_001291415.2(KDM6A):c.385-6049_385-6047del
NM_001291415.2(KDM6A):c.3851G>A (p.Gly1284Asp)
NM_001291415.2(KDM6A):c.3859A>G (p.Asn1287Asp)
NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter) rs398122929
NM_001291415.2(KDM6A):c.3886C>T (p.Leu1296Phe)
NM_001291415.2(KDM6A):c.3887T>C (p.Leu1296Pro)
NM_001291415.2(KDM6A):c.3888dup (p.Thr1297fs)
NM_001291415.2(KDM6A):c.388G>A (p.Ala130Thr) rs748724294
NM_001291415.2(KDM6A):c.3892+2T>C rs793888510
NM_001291415.2(KDM6A):c.3892+7T>C
NM_001291415.2(KDM6A):c.3893-14_3893-13insC
NM_001291415.2(KDM6A):c.3893-16T>G
NM_001291415.2(KDM6A):c.3893-6del rs748438075
NM_001291415.2(KDM6A):c.3893-6dup rs748438075
NM_001291415.2(KDM6A):c.3907T>A (p.Leu1303Met)
NM_001291415.2(KDM6A):c.3910G>T (p.Ala1304Ser) rs2045860597
NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp) rs1450363794
NM_001291415.2(KDM6A):c.3920G>A (p.Arg1307Gln)
NM_001291415.2(KDM6A):c.3924C>T (p.Tyr1308=)
NM_001291415.2(KDM6A):c.3925G>T (p.Glu1309Ter) rs1556357274
NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter) rs1556357314
NM_001291415.2(KDM6A):c.3954_3955dup (p.Ile1319fs)
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001291415.2(KDM6A):c.39_41dup (p.Ala17_Phe18insAla)
NM_001291415.2(KDM6A):c.39_44dup (p.Ala17_Phe18insAlaAla)
NM_001291415.2(KDM6A):c.4005C>T (p.Val1335=)
NM_001291415.2(KDM6A):c.400T>C (p.Tyr134His) rs2041728428
NM_001291415.2(KDM6A):c.4033A>G (p.Lys1345Glu)
NM_001291415.2(KDM6A):c.4034+10_4034+11del
NM_001291415.2(KDM6A):c.4034+10_4034+11dup
NM_001291415.2(KDM6A):c.4034+8T>C
NM_001291415.2(KDM6A):c.4035-8C>T
NM_001291415.2(KDM6A):c.4035G>A (p.Lys1345=)
NM_001291415.2(KDM6A):c.4045C>T (p.Leu1349=)
NM_001291415.2(KDM6A):c.4058A>G (p.Lys1353Arg) rs2148288019
NM_001291415.2(KDM6A):c.406C>T (p.Leu136Phe)
NM_001291415.2(KDM6A):c.4087A>G (p.Ile1363Val) rs2148288652
NM_001291415.2(KDM6A):c.4088T>A (p.Ile1363Asn) rs763097875
NM_001291415.2(KDM6A):c.409G>T (p.Gly137Cys)
NM_001291415.2(KDM6A):c.40_51del (p.Ala14_Ala17del) rs749062014
NM_001291415.2(KDM6A):c.40_51dup (p.Ala14_Ala17dup) rs749062014
NM_001291415.2(KDM6A):c.4100A>G (p.Lys1367Arg) rs2046573753
NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs) rs1569542167
NM_001291415.2(KDM6A):c.4110A>G (p.Ile1370Met)
NM_001291415.2(KDM6A):c.4134_4137del (p.Pro1379fs) rs1064793351
NM_001291415.2(KDM6A):c.4148G>A (p.Cys1383Tyr)
NM_001291415.2(KDM6A):c.4151G>A (p.Ser1384Asn) rs1296096294
NM_001291415.2(KDM6A):c.4152C>T (p.Ser1384=)
NM_001291415.2(KDM6A):c.415G>A (p.Val139Ile)
NM_001291415.2(KDM6A):c.4161+18T>C
NM_001291415.2(KDM6A):c.4162-17T>C rs2148304278
NM_001291415.2(KDM6A):c.4177C>T (p.Leu1393=)
NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter) rs1318649487
NM_001291415.2(KDM6A):c.4219A>G (p.Ile1407Val)
NM_001291415.2(KDM6A):c.4222G>A (p.Val1408Ile) rs2148305714
NM_001291415.2(KDM6A):c.4233A>C (p.Gln1411His)
NM_001291415.2(KDM6A):c.4235A>G (p.Asp1412Gly)
NM_001291415.2(KDM6A):c.4243C>T (p.Arg1415Ter)
NM_001291415.2(KDM6A):c.4260C>T (p.Asn1420=)
NM_001291415.2(KDM6A):c.4263G>A (p.Leu1421=) rs2148306758
NM_001291415.2(KDM6A):c.4265A>C (p.Glu1422Ala)
NM_001291415.2(KDM6A):c.4269C>T (p.Asn1423=) rs2148306874
NM_001291415.2(KDM6A):c.4276G>T (p.Val1426Leu)
NM_001291415.2(KDM6A):c.4278G>T (p.Val1426=)
NM_001291415.2(KDM6A):c.429T>C (p.Tyr143=)
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291415.2(KDM6A):c.42CGC[5] (p.Ala16_Ala17dup) rs797044622
NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter) rs1603068073
NM_001291415.2(KDM6A):c.4329A>G (p.Thr1443=)
NM_001291415.2(KDM6A):c.4332+9A>C
NM_001291415.2(KDM6A):c.4333-15T>C
NM_001291415.2(KDM6A):c.4334C>T (p.Ala1445Val)
NM_001291415.2(KDM6A):c.43G>A (p.Ala15Thr)
NM_001291415.2(KDM6A):c.443+11A>G
NM_001291415.2(KDM6A):c.443+5G>C rs2041729565
NM_001291415.2(KDM6A):c.443+8G>A
NM_001291415.2(KDM6A):c.444G>A (p.Trp148Ter)
NM_001291415.2(KDM6A):c.48C>G (p.Ala16=)
NM_001291415.2(KDM6A):c.48C>T (p.Ala16=) rs772375300
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) rs912069418
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter) rs189751539
NM_001291415.2(KDM6A):c.548A>G (p.Tyr183Cys)
NM_001291415.2(KDM6A):c.54C>A (p.Phe18Leu)
NM_001291415.2(KDM6A):c.561A>G (p.Leu187=)
NM_001291415.2(KDM6A):c.563A>G (p.Lys188Arg) rs1569521751
NM_001291415.2(KDM6A):c.564+13G>T
NM_001291415.2(KDM6A):c.564+15T>C
NM_001291415.2(KDM6A):c.564+16T>C
NM_001291415.2(KDM6A):c.564+1G>T rs2042138847
NM_001291415.2(KDM6A):c.565-10C>T
NM_001291415.2(KDM6A):c.565-12C>G
NM_001291415.2(KDM6A):c.565-1G>A rs2147776373
NM_001291415.2(KDM6A):c.565-401A>G
NM_001291415.2(KDM6A):c.57T>C (p.Gly19=)
NM_001291415.2(KDM6A):c.583G>A (p.Val195Ile)
NM_001291415.2(KDM6A):c.593A>G (p.Asn198Ser)
NM_001291415.2(KDM6A):c.605T>C (p.Leu202Ser)
NM_001291415.2(KDM6A):c.609C>T (p.Ser203=)
NM_001291415.2(KDM6A):c.610A>G (p.Asn204Asp)
NM_001291415.2(KDM6A):c.613G>T (p.Ala205Ser)
NM_001291415.2(KDM6A):c.619+11T>C
NM_001291415.2(KDM6A):c.619+11T>G rs2147777658
NM_001291415.2(KDM6A):c.619+12T>C
NM_001291415.2(KDM6A):c.619+14A>G
NM_001291415.2(KDM6A):c.619+5G>A
NM_001291415.2(KDM6A):c.619+6T>C rs2042747021
NM_001291415.2(KDM6A):c.620-2A>G rs2042875800
NM_001291415.2(KDM6A):c.620-9C>T rs2147793883
NM_001291415.2(KDM6A):c.655-13_655-12del rs758763063
NM_001291415.2(KDM6A):c.655-15T>C
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala) rs760601613
NM_001291415.2(KDM6A):c.660A>G (p.Lys220=)
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_001291415.2(KDM6A):c.696G>A (p.Leu232=)
NM_001291415.2(KDM6A):c.696G>T (p.Leu232Phe)
NM_001291415.2(KDM6A):c.69G>T (p.Lys23Asn)
NM_001291415.2(KDM6A):c.714T>A (p.Ser238=)
NM_001291415.2(KDM6A):c.722_723dup (p.Lys242Ter)
NM_001291415.2(KDM6A):c.727G>A (p.Ala243Thr) rs2147917312
NM_001291415.2(KDM6A):c.735del (p.Leu246fs)
NM_001291415.2(KDM6A):c.737del (p.Leu246fs)
NM_001291415.2(KDM6A):c.748+13_748+23del
NM_001291415.2(KDM6A):c.748+14T>C
NM_001291415.2(KDM6A):c.748+16C>T
NM_001291415.2(KDM6A):c.748+4T>C rs776667031
NM_001291415.2(KDM6A):c.749-16A>C
NM_001291415.2(KDM6A):c.749-20T>C
NM_001291415.2(KDM6A):c.749-2A>G rs2043958892
NM_001291415.2(KDM6A):c.752G>A (p.Trp251Ter) rs793888509
NM_001291415.2(KDM6A):c.768A>G (p.Val256=)
NM_001291415.2(KDM6A):c.774C>T (p.Leu258=)
NM_001291415.2(KDM6A):c.787G>A (p.Ala263Thr)
NM_001291415.2(KDM6A):c.799A>G (p.Ser267Gly)
NM_001291415.2(KDM6A):c.813G>C (p.Gln271His)
NM_001291415.2(KDM6A):c.815A>G (p.Tyr272Cys) rs587778421
NM_001291415.2(KDM6A):c.816T>G (p.Tyr272Ter)
NM_001291415.2(KDM6A):c.852C>A (p.Gly284=)
NM_001291415.2(KDM6A):c.875+16C>T
NM_001291415.2(KDM6A):c.875+19T>G
NM_001291415.2(KDM6A):c.875+1G>A rs2043963299
NM_001291415.2(KDM6A):c.876-13C>T
NM_001291415.2(KDM6A):c.876-13dup
NM_001291415.2(KDM6A):c.876-14C>T rs1192148930
NM_001291415.2(KDM6A):c.876-5C>T
NM_001291415.2(KDM6A):c.876G>A (p.Arg292=)
NM_001291415.2(KDM6A):c.883T>G (p.Ser295Ala)
NM_001291415.2(KDM6A):c.887G>A (p.Ser296Asn)
NM_001291415.2(KDM6A):c.894G>A (p.Gly298=) rs781549397
NM_001291415.2(KDM6A):c.908C>A (p.Ala303Asp) rs2044199885
NM_001291415.2(KDM6A):c.913A>G (p.Ile305Val) rs2044200158
NM_001291415.2(KDM6A):c.970A>G (p.Ile324Val)
NM_001291415.2(KDM6A):c.974+12T>C rs2147957825
NM_001291415.2(KDM6A):c.974+25_974+27del
NM_001291415.2(KDM6A):c.974+9T>G
NM_001291415.2(KDM6A):c.975-16_975-15del
NM_001291415.2(KDM6A):c.975-3C>T
NM_001291415.2(KDM6A):c.975T>C (p.Gly325=)
NM_001291415.2(KDM6A):c.981A>G (p.Leu327=)
nsv1067838

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