GRCh37/hg19 Xq21.1(chrX:77238734-77312616)
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GRCh37/hg19 Xq21.1(chrX:77244108-77244998)
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NG_013224.2:g.(66066_82545)_(84263_92781)del
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NM_000052.6(ATP7A):c.3152_3156delACGGAins4
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NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter)
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rs797045325
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NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs)
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rs797045327
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NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
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rs72554636
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NM_000052.7(ATP7A):c.1355del (p.Val452fs)
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rs797045329
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NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter)
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rs797045330
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NM_000052.7(ATP7A):c.1544-1G>A
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rs797045331
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NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
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rs797045332
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NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs)
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rs797045333
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NM_000052.7(ATP7A):c.1707+1G>A
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rs1569549753
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NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)
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rs797045336
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NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter)
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rs797045337
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NM_000052.7(ATP7A):c.1870-1G>C
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rs797045338
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NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
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rs797045339
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NM_000052.7(ATP7A):c.1898_1911del (p.Lys633fs)
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rs2149094952
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NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter)
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NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)
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rs151340631
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NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
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rs72554640
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NM_000052.7(ATP7A):c.1946+1G>C
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rs797045340
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NM_000052.7(ATP7A):c.1946+5G>A
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rs797045341
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NM_000052.7(ATP7A):c.1947-1G>A
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rs794729231
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NM_000052.7(ATP7A):c.1947-1G>C
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rs794729231
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NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter)
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rs797045342
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NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs)
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rs797045343
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NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)
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rs797045344
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NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter)
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rs797045346
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NM_000052.7(ATP7A):c.2172+5G>C
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rs797045347
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NM_000052.7(ATP7A):c.2173-2A>G
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rs797045349
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NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
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rs72554644
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NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter)
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rs72554644
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NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter)
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rs797045351
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NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs)
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rs797045352
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NM_000052.7(ATP7A):c.2280C>G (p.Tyr760Ter)
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NM_000052.7(ATP7A):c.2302del (p.Ala768fs)
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rs797045353
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NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg)
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rs797045354
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NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
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rs72554645
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NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs)
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rs797045355
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NM_000052.7(ATP7A):c.2405_2406+1delinsT
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rs797045356
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NM_000052.7(ATP7A):c.2498+2T>A
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rs797045357
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NM_000052.7(ATP7A):c.2499-1G>A
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rs797045359
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NM_000052.7(ATP7A):c.2499-1_2504dup
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rs797045358
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NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu)
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rs797045360
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NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer)
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rs797045361
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NM_000052.7(ATP7A):c.2916+3_2916+6del
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rs797045364
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NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
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rs72554649
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NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
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rs72554650
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NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)
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rs72554652
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NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del)
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rs797045366
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NM_000052.7(ATP7A):c.3112-1G>A
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rs797045367
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NM_000052.7(ATP7A):c.3124del (p.Val1042fs)
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rs797045368
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NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly)
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rs797045369
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NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu)
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rs797045370
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NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter)
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rs797045372
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NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter)
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rs797045373
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NM_000052.7(ATP7A):c.3340del (p.Val1114fs)
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rs797045375
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NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter)
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rs797045377
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NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter)
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rs797045378
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NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter)
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rs797045379
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NM_000052.7(ATP7A):c.3537del (p.Val1180fs)
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rs797045380
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NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu)
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rs797045382
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NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer)
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rs797045383
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NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs)
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rs797045384
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NM_000052.7(ATP7A):c.3801+1G>T
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rs797045386
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NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)
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rs151340632
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NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg)
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rs797045388
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NM_000052.7(ATP7A):c.3920del (p.Pro1307fs)
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rs797045389
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NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg)
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rs797045390
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NM_000052.7(ATP7A):c.4005+1G>T
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rs797045391
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NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del)
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rs797045392
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NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val)
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rs2149112273
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NM_000052.7(ATP7A):c.408_415del (p.Asn137fs)
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rs1569549587
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NM_000052.7(ATP7A):c.4123+1G>A
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rs797045393
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NM_000052.7(ATP7A):c.4132dup (p.Met1378fs)
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rs797045395
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NM_000052.7(ATP7A):c.4226+5G>A
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rs797045398
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NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
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rs797045397
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NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
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NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter)
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rs797045399
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NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
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rs151340633
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NM_000052.7(ATP7A):c.876del (p.Ser293fs)
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rs797045400
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