NM_001291415.2(KDM6A):c.2859-17T>C
|
rs201108448
|
0.00674
|
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
|
rs141353229
|
0.00079
|
NM_001291415.2(KDM6A):c.1683+20C>T
|
rs557391484
|
0.00046
|
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser)
|
rs200638114
|
0.00020
|
NM_001291415.2(KDM6A):c.2024A>C (p.Asn675Thr)
|
rs760145252
|
0.00013
|
NM_001291415.2(KDM6A):c.1671G>C (p.Met557Ile)
|
rs368984079
|
0.00010
|
NM_001291415.2(KDM6A):c.294A>G (p.Gln98=)
|
rs200940558
|
0.00007
|
NM_001291415.2(KDM6A):c.2079+20C>T
|
rs759523834
|
0.00006
|
NM_001291415.2(KDM6A):c.870C>T (p.Leu290=)
|
rs369438801
|
0.00006
|
NM_001291415.2(KDM6A):c.2049G>A (p.Pro683=)
|
rs748403617
|
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.443+17C>T
|
rs765379617
|
0.00005
|
NM_001291415.2(KDM6A):c.876-16T>C
|
rs764995519
|
0.00005
|
NM_001291415.2(KDM6A):c.3423C>T (p.Asp1141=)
|
rs781105490
|
0.00004
|
NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp)
|
rs923984398
|
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.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.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.2629A>G (p.Thr877Ala)
|
rs140562248
|
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.3589+20A>G
|
rs779956691
|
0.00002
|
NM_001291415.2(KDM6A):c.3893-6T>C
|
rs766167940
|
0.00002
|
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg)
|
rs370298215
|
0.00002
|
NM_001291415.2(KDM6A):c.565-9G>A
|
rs1171173147
|
0.00002
|
NM_001291415.2(KDM6A):c.749-5dup
|
rs757809203
|
0.00002
|
NM_001291415.2(KDM6A):c.1486-12G>A
|
rs762409573
|
0.00001
|
NM_001291415.2(KDM6A):c.1991G>A (p.Arg664Gln)
|
rs973676174
|
0.00001
|
NM_001291415.2(KDM6A):c.2064A>C (p.Leu688=)
|
rs772897984
|
0.00001
|
NM_001291415.2(KDM6A):c.222C>G (p.Gly74=)
|
rs1042038341
|
0.00001
|
NM_001291415.2(KDM6A):c.2558A>G (p.Asn853Ser)
|
rs1196875808
|
0.00001
|
NM_001291415.2(KDM6A):c.3348A>G (p.Glu1116=)
|
rs375622972
|
0.00001
|
NM_001291415.2(KDM6A):c.385-12C>T
|
rs1160858937
|
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.4254C>T (p.Ser1418=)
|
rs377465023
|
0.00001
|
NM_001291415.2(KDM6A):c.4323A>G (p.Gln1441=)
|
rs753713461
|
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.975-18C>A
|
rs1361135215
|
0.00001
|
NM_001291415.2(KDM6A):c.1089A>G (p.Glu363=)
|
|
|
NM_001291415.2(KDM6A):c.117C>T (p.Pro39=)
|
|
|
NM_001291415.2(KDM6A):c.1194+19A>G
|
|
|
NM_001291415.2(KDM6A):c.1195-14A>G
|
|
|
NM_001291415.2(KDM6A):c.1329+16A>T
|
rs2147966824
|
|
NM_001291415.2(KDM6A):c.141G>A (p.Glu47=)
|
|
|
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.150C>T (p.Gly50=)
|
|
|
NM_001291415.2(KDM6A):c.154C>T (p.Leu52=)
|
|
|
NM_001291415.2(KDM6A):c.1554A>G (p.Ser518=)
|
|
|
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.1599C>T (p.Arg533=)
|
|
|
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.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.1674A>G (p.Gln558=)
|
|
|
NM_001291415.2(KDM6A):c.1684-18C>T
|
rs2147989635
|
|
NM_001291415.2(KDM6A):c.1719T>C (p.Thr573=)
|
|
|
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
|
|
|
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.1962A>T (p.Gly654=)
|
|
|
NM_001291415.2(KDM6A):c.196G>A (p.Gly66Ser)
|
|
|
NM_001291415.2(KDM6A):c.1986G>C (p.Leu662=)
|
|
|
NM_001291415.2(KDM6A):c.1989G>A (p.Gln663=)
|
|
|
NM_001291415.2(KDM6A):c.1998A>T (p.Ala666=)
|
|
|
NM_001291415.2(KDM6A):c.2016C>T (p.Asn672=)
|
|
|
NM_001291415.2(KDM6A):c.2079+10_2079+12del
|
rs1177394697
|
|
NM_001291415.2(KDM6A):c.2079+14T>C
|
rs1972307267
|
|
NM_001291415.2(KDM6A):c.2080-18A>G
|
|
|
NM_001291415.2(KDM6A):c.2133T>C (p.Pro711=)
|
|
|
NM_001291415.2(KDM6A):c.2136C>G (p.Leu712=)
|
|
|
NM_001291415.2(KDM6A):c.2229A>G (p.Thr743=)
|
|
|
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+19G>T
|
rs758432529
|
|
NM_001291415.2(KDM6A):c.2253C>T (p.Leu751=)
|
|
|
NM_001291415.2(KDM6A):c.2256C>T (p.Ser752=)
|
rs2148039305
|
|
NM_001291415.2(KDM6A):c.226-8A>G
|
|
|
NM_001291415.2(KDM6A):c.2300C>T (p.Thr767Ile)
|
|
|
NM_001291415.2(KDM6A):c.2301C>T (p.Thr767=)
|
|
|
NM_001291415.2(KDM6A):c.232C>T (p.Arg78Cys)
|
|
|
NM_001291415.2(KDM6A):c.2350A>G (p.Arg784Gly)
|
|
|
NM_001291415.2(KDM6A):c.2405A>T (p.His802Leu)
|
rs756545808
|
|
NM_001291415.2(KDM6A):c.2421G>T (p.Thr807=)
|
|
|
NM_001291415.2(KDM6A):c.2430T>C (p.Ala810=)
|
rs1219417623
|
|
NM_001291415.2(KDM6A):c.2472A>G (p.Leu824=)
|
|
|
NM_001291415.2(KDM6A):c.24C>G (p.Leu8=)
|
|
|
NM_001291415.2(KDM6A):c.2523T>C (p.Asn841=)
|
|
|
NM_001291415.2(KDM6A):c.2595C>T (p.Asn865=)
|
|
|
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.2685C>T (p.Ser895=)
|
|
|
NM_001291415.2(KDM6A):c.2709A>G (p.Leu903=)
|
|
|
NM_001291415.2(KDM6A):c.2778C>T (p.Asn926=)
|
|
|
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.2859-12T>A
|
rs2045135323
|
|
NM_001291415.2(KDM6A):c.2859-3dup
|
rs1339863219
|
|
NM_001291415.2(KDM6A):c.2859-6T>G
|
|
|
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.2919A>G (p.Pro973=)
|
|
|
NM_001291415.2(KDM6A):c.2962T>C (p.Leu988=)
|
|
|
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.3063A>C (p.Val1021=)
|
|
|
NM_001291415.2(KDM6A):c.3072C>G (p.Gly1024=)
|
|
|
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+7C>T
|
|
|
NM_001291415.2(KDM6A):c.3095-6A>C
|
rs2148117604
|
|
NM_001291415.2(KDM6A):c.3095-6A>G
|
|
|
NM_001291415.2(KDM6A):c.3180A>G (p.Ala1060=)
|
|
|
NM_001291415.2(KDM6A):c.318G>A (p.Leu106=)
|
|
|
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.3300+15C>T
|
|
|
NM_001291415.2(KDM6A):c.3301-18T>C
|
|
|
NM_001291415.2(KDM6A):c.330A>G (p.Pro110=)
|
|
|
NM_001291415.2(KDM6A):c.3336C>T (p.His1112=)
|
|
|
NM_001291415.2(KDM6A):c.335-13A>G
|
|
|
NM_001291415.2(KDM6A):c.3357G>A (p.Ser1119=)
|
|
|
NM_001291415.2(KDM6A):c.3365+16T>A
|
|
|
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.3414C>G (p.Thr1138=)
|
|
|
NM_001291415.2(KDM6A):c.3414C>T (p.Thr1138=)
|
rs2045472846
|
|
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.348C>T (p.Tyr116=)
|
|
|
NM_001291415.2(KDM6A):c.3589+10A>G
|
|
|
NM_001291415.2(KDM6A):c.3589+18A>C
|
|
|
NM_001291415.2(KDM6A):c.3704+12A>G
|
|
|
NM_001291415.2(KDM6A):c.378C>T (p.Tyr126=)
|
rs2147263740
|
|
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.388G>A (p.Ala130Thr)
|
rs748724294
|
|
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.4005C>T (p.Val1335=)
|
|
|
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.4152C>T (p.Ser1384=)
|
|
|
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.4219A>G (p.Ile1407Val)
|
|
|
NM_001291415.2(KDM6A):c.4260C>T (p.Asn1420=)
|
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NM_001291415.2(KDM6A):c.4263G>A (p.Leu1421=)
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rs2148306758
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NM_001291415.2(KDM6A):c.4269C>T (p.Asn1423=)
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rs2148306874
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NM_001291415.2(KDM6A):c.4278G>T (p.Val1426=)
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NM_001291415.2(KDM6A):c.429T>C (p.Tyr143=)
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NM_001291415.2(KDM6A):c.42CGC[5] (p.Ala16_Ala17dup)
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rs797044622
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NM_001291415.2(KDM6A):c.4333-15T>C
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NM_001291415.2(KDM6A):c.443+11A>G
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NM_001291415.2(KDM6A):c.443+8G>A
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NM_001291415.2(KDM6A):c.48C>G (p.Ala16=)
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NM_001291415.2(KDM6A):c.48C>T (p.Ala16=)
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rs772375300
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NM_001291415.2(KDM6A):c.561A>G (p.Leu187=)
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NM_001291415.2(KDM6A):c.564+13G>T
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NM_001291415.2(KDM6A):c.564+15T>C
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NM_001291415.2(KDM6A):c.564+16T>C
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NM_001291415.2(KDM6A):c.565-10C>T
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NM_001291415.2(KDM6A):c.565-12C>G
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NM_001291415.2(KDM6A):c.57T>C (p.Gly19=)
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NM_001291415.2(KDM6A):c.619+11T>C
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NM_001291415.2(KDM6A):c.619+12T>C
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NM_001291415.2(KDM6A):c.619+14A>G
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NM_001291415.2(KDM6A):c.620-9C>T
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rs2147793883
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NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala)
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rs760601613
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NM_001291415.2(KDM6A):c.660A>G (p.Lys220=)
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NM_001291415.2(KDM6A):c.696G>A (p.Leu232=)
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NM_001291415.2(KDM6A):c.714T>A (p.Ser238=)
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NM_001291415.2(KDM6A):c.748+13_748+23del
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NM_001291415.2(KDM6A):c.748+14T>C
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NM_001291415.2(KDM6A):c.748+16C>T
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NM_001291415.2(KDM6A):c.749-16A>C
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NM_001291415.2(KDM6A):c.749-20T>C
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NM_001291415.2(KDM6A):c.768A>G (p.Val256=)
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NM_001291415.2(KDM6A):c.774C>T (p.Leu258=)
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NM_001291415.2(KDM6A):c.852C>A (p.Gly284=)
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NM_001291415.2(KDM6A):c.875+19T>G
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NM_001291415.2(KDM6A):c.876-13C>T
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NM_001291415.2(KDM6A):c.876-13dup
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NM_001291415.2(KDM6A):c.876-14C>T
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rs1192148930
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NM_001291415.2(KDM6A):c.876-5C>T
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NM_001291415.2(KDM6A):c.894G>A (p.Gly298=)
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rs781549397
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NM_001291415.2(KDM6A):c.974+12T>C
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rs2147957825
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NM_001291415.2(KDM6A):c.974+25_974+27del
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NM_001291415.2(KDM6A):c.974+9T>G
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NM_001291415.2(KDM6A):c.975-16_975-15del
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