NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
|
rs782475540
|
0.00005
|
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
|
rs781970260
|
0.00005
|
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly)
|
rs1557232788
|
0.00003
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys)
|
rs1280037924
|
0.00003
|
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
|
rs1189381967
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)
|
rs1557231845
|
0.00002
|
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr)
|
rs1557229686
|
0.00002
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
|
rs1427317043
|
0.00002
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn)
|
rs1374099672
|
0.00002
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
|
rs199608277
|
0.00002
|
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)
|
rs368982547
|
0.00001
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
|
rs1193696385
|
0.00001
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)
|
rs782455461
|
0.00001
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
NM_000052.7(ATP7A):c.238C>T (p.Pro80Ser)
|
rs781951786
|
0.00001
|
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
|
rs1557234931
|
0.00001
|
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg)
|
rs1557235625
|
0.00001
|
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)
|
rs1557236698
|
0.00001
|
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)
|
rs782480109
|
0.00001
|
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)
|
rs1341604631
|
0.00001
|
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)
|
rs1057518370
|
0.00001
|
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val)
|
rs371409820
|
0.00001
|
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp)
|
rs781907456
|
0.00001
|
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
|
rs962646396
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)
|
rs2078077936
|
0.00001
|
NM_000052.7(ATP7A):c.4213C>T (p.Leu1405Phe)
|
rs2078077967
|
0.00001
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His)
|
rs1204475767
|
0.00001
|
NM_000052.7(ATP7A):c.488A>G (p.His163Arg)
|
rs1164298315
|
0.00001
|
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
|
rs782248978
|
0.00001
|
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
|
rs1557231656
|
0.00001
|
NM_000052.7(ATP7A):c.1028dup (p.Tyr343Ter)
|
|
|
NM_000052.7(ATP7A):c.1056G>C (p.Glu352Asp)
|
|
|
NM_000052.7(ATP7A):c.1135del (p.Thr379fs)
|
|
|
NM_000052.7(ATP7A):c.1139_1140del (p.Val380fs)
|
|
|
NM_000052.7(ATP7A):c.1189_1192del (p.Gly397fs)
|
|
|
NM_000052.7(ATP7A):c.120+7T>C
|
rs2149073895
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
NM_000052.7(ATP7A):c.1234del (p.Ala413fs)
|
|
|
NM_000052.7(ATP7A):c.1329del (p.Leu444fs)
|
rs2149083474
|
|
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly)
|
rs1377636628
|
|
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter)
|
rs797045330
|
|
NM_000052.7(ATP7A):c.1585G>T (p.Glu529Ter)
|
|
|
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp)
|
rs1057524455
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.1707+1G>A
|
rs1569549753
|
|
NM_000052.7(ATP7A):c.1707+4A>G
|
|
|
NM_000052.7(ATP7A):c.1707+5G>A
|
|
|
NM_000052.7(ATP7A):c.1708-1G>C
|
|
|
NM_000052.7(ATP7A):c.1734C>A (p.Cys578Ter)
|
|
|
NM_000052.7(ATP7A):c.1747G>C (p.Glu583Gln)
|
|
|
NM_000052.7(ATP7A):c.1748_1749del (p.Glu583fs)
|
|
|
NM_000052.7(ATP7A):c.1770_1771del (p.Gly591fs)
|
|
|
NM_000052.7(ATP7A):c.1780dup (p.Tyr594fs)
|
|
|
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)
|
rs797045336
|
|
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr)
|
rs2149093552
|
|
NM_000052.7(ATP7A):c.1818del (p.Lys607fs)
|
|
|
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser)
|
rs1569549840
|
|
NM_000052.7(ATP7A):c.1856dup (p.His620fs)
|
|
|
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val)
|
rs1399879043
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
NM_000052.7(ATP7A):c.1870-2A>T
|
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
NM_000052.7(ATP7A):c.1883A>T (p.Glu628Val)
|
|
|
NM_000052.7(ATP7A):c.1884dup (p.Ala629fs)
|
|
|
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro)
|
rs72554639
|
|
NM_000052.7(ATP7A):c.1898A>G (p.Lys633Arg)
|
|
|
NM_000052.7(ATP7A):c.1903G>C (p.Asp635His)
|
|
|
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp)
|
rs1057523112
|
|
NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter)
|
|
|
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)
|
rs151340631
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.1936G>T (p.Glu646Ter)
|
|
|
NM_000052.7(ATP7A):c.1946+1G>A
|
|
|
NM_000052.7(ATP7A):c.1946+1G>C
|
rs797045340
|
|
NM_000052.7(ATP7A):c.1946+1G>T
|
rs797045340
|
|
NM_000052.7(ATP7A):c.1946+2T>C
|
|
|
NM_000052.7(ATP7A):c.1946+4A>G
|
|
|
NM_000052.7(ATP7A):c.1946+5G>A
|
rs797045341
|
|
NM_000052.7(ATP7A):c.1946+5G>C
|
|
|
NM_000052.7(ATP7A):c.1946+6T>G
|
|
|
NM_000052.7(ATP7A):c.1947-1G>T
|
|
|
NM_000052.7(ATP7A):c.1947-3_1948dup
|
|
|
NM_000052.7(ATP7A):c.1949G>A (p.Trp650Ter)
|
|
|
NM_000052.7(ATP7A):c.1958C>A (p.Ser653Tyr)
|
|
|
NM_000052.7(ATP7A):c.1958C>T (p.Ser653Phe)
|
|
|
NM_000052.7(ATP7A):c.1971T>A (p.Ser657Arg)
|
|
|
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)
|
rs797045344
|
|
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
|
|
|
NM_000052.7(ATP7A):c.2056_2059del (p.Gln685_Asn686insTer)
|
|
|
NM_000052.7(ATP7A):c.2057del (p.Asn686fs)
|
|
|
NM_000052.7(ATP7A):c.2059A>G (p.Met687Val)
|
|
|
NM_000052.7(ATP7A):c.2068G>T (p.Glu690Ter)
|
|
|
NM_000052.7(ATP7A):c.2117T>G (p.Leu706Arg)
|
|
|
NM_000052.7(ATP7A):c.2153T>A (p.Leu718Ter)
|
|
|
NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg)
|
|
|
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly)
|
rs1569549892
|
|
NM_000052.7(ATP7A):c.2159del (p.Cys720fs)
|
|
|
NM_000052.7(ATP7A):c.2170C>T (p.Gln724Ter)
|
|
|
NM_000052.7(ATP7A):c.2171A>C (p.Gln724Pro)
|
|
|
NM_000052.7(ATP7A):c.2172+1G>A
|
|
|
NM_000052.7(ATP7A):c.2172+5G>C
|
rs797045347
|
|
NM_000052.7(ATP7A):c.2172+5_2172+19del
|
|
|
NM_000052.7(ATP7A):c.2172+6T>G
|
|
|
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His)
|
rs797045348
|
|
NM_000052.7(ATP7A):c.2173-1G>C
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)
|
rs797045350
|
|
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter)
|
rs797045351
|
|
NM_000052.7(ATP7A):c.2206dup (p.Tyr736fs)
|
|
|
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
|
|
|
NM_000052.7(ATP7A):c.2281T>C (p.Ser761Pro)
|
|
|
NM_000052.7(ATP7A):c.2284_2285del (p.Leu762fs)
|
|
|
NM_000052.7(ATP7A):c.2314_2317del (p.Arg772fs)
|
|
|
NM_000052.7(ATP7A):c.2337_2350del (p.Phe780fs)
|
|
|
NM_000052.7(ATP7A):c.2347dup (p.Thr783fs)
|
|
|
NM_000052.7(ATP7A):c.2354dup (p.Met786fs)
|
|
|
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
|
rs781834675
|
|
NM_000052.7(ATP7A):c.2383C>A (p.Arg795=)
|
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2406+6G>A
|
rs782307719
|
|
NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn)
|
rs2077838704
|
|
NM_000052.7(ATP7A):c.2407-2A>G
|
|
|
NM_000052.7(ATP7A):c.2440T>C (p.Ser814Pro)
|
|
|
NM_000052.7(ATP7A):c.2446C>T (p.Gln816Ter)
|
|
|
NM_000052.7(ATP7A):c.2473_2474del (p.Thr824_Leu825insTer)
|
|
|
NM_000052.7(ATP7A):c.2498+1G>A
|
|
|
NM_000052.7(ATP7A):c.2499-1G>A
|
rs797045359
|
|
NM_000052.7(ATP7A):c.2508del (p.Val837fs)
|
|
|
NM_000052.7(ATP7A):c.2518G>T (p.Glu840Ter)
|
|
|
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu)
|
rs797045360
|
|
NM_000052.7(ATP7A):c.2557G>A (p.Gly853Arg)
|
|
|
NM_000052.7(ATP7A):c.2557G>C (p.Gly853Arg)
|
|
|
NM_000052.7(ATP7A):c.2579G>T (p.Gly860Val)
|
|
|
NM_000052.7(ATP7A):c.2609A>G (p.Asp870Gly)
|
|
|
NM_000052.7(ATP7A):c.2612_2613del (p.Glu871fs)
|
|
|
NM_000052.7(ATP7A):c.2618T>G (p.Leu873Arg)
|
|
|
NM_000052.7(ATP7A):c.2626+1G>A
|
|
|
NM_000052.7(ATP7A):c.2626+2T>A
|
|
|
NM_000052.7(ATP7A):c.2626G>C (p.Gly876Arg)
|
|
|
NM_000052.7(ATP7A):c.2627-2A>G
|
|
|
NM_000052.7(ATP7A):c.2627G>A (p.Gly876Glu)
|
|
|
NM_000052.7(ATP7A):c.2686C>T (p.Gln896Ter)
|
|
|
NM_000052.7(ATP7A):c.2743C>T (p.Gln915Ter)
|
|
|
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln)
|
rs2149099719
|
|
NM_000052.7(ATP7A):c.2770C>T (p.Gln924Ter)
|
|
|
NM_000052.7(ATP7A):c.2781+1G>A
|
|
|
NM_000052.7(ATP7A):c.2781G>A (p.Lys927=)
|
|
|
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg)
|
rs539177302
|
|
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter)
|
rs67273048
|
|
NM_000052.7(ATP7A):c.2888del (p.Asn963fs)
|
|
|
NM_000052.7(ATP7A):c.2916+1G>A
|
|
|
NM_000052.7(ATP7A):c.2916+5G>A
|
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2938del (p.Arg980fs)
|
|
|
NM_000052.7(ATP7A):c.2944G>T (p.Glu982Ter)
|
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.2971del (p.Ala991fs)
|
|
|
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val)
|
rs1353488746
|
|
NM_000052.7(ATP7A):c.2998T>C (p.Cys1000Arg)
|
|
|
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)
|
rs797045365
|
|
NM_000052.7(ATP7A):c.3005G>T (p.Cys1002Phe)
|
|
|
NM_000052.7(ATP7A):c.3013G>A (p.Gly1005Arg)
|
rs1569550143
|
|
NM_000052.7(ATP7A):c.3017T>C (p.Leu1006Pro)
|
|
|
NM_000052.7(ATP7A):c.3020C>T (p.Ala1007Val)
|
|
|
NM_000052.7(ATP7A):c.3040dup (p.Val1014fs)
|
|
|
NM_000052.7(ATP7A):c.3043G>A (p.Gly1015Ser)
|
|
|
NM_000052.7(ATP7A):c.3044G>A (p.Gly1015Asp)
|
|
|
NM_000052.7(ATP7A):c.3045del (p.Thr1016fs)
|
|
|
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser)
|
rs2077968146
|
|
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)
|
rs72554652
|
|
NM_000052.7(ATP7A):c.3065del (p.Asn1022fs)
|
|
|
NM_000052.7(ATP7A):c.3073_3074insAT (p.Leu1025fs)
|
|
|
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr)
|
rs2077968562
|
|
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
|
|
|
NM_000052.7(ATP7A):c.3112-1G>A
|
rs797045367
|
|
NM_000052.7(ATP7A):c.3112-2A>C
|
|
|
NM_000052.7(ATP7A):c.3112-2A>G
|
|
|
NM_000052.7(ATP7A):c.3131A>G (p.Asp1044Gly)
|
|
|
NM_000052.7(ATP7A):c.3143C>T (p.Thr1048Ile)
|
|
|
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
|
rs142998552
|
|
NM_000052.7(ATP7A):c.3241G>T (p.Glu1081Ter)
|
|
|
NM_000052.7(ATP7A):c.3244dup (p.Ser1082fs)
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NM_000052.7(ATP7A):c.3257del (p.His1086fs)
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NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
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NM_000052.7(ATP7A):c.3293_3294del (p.Gln1098fs)
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NM_000052.7(ATP7A):c.3294+1G>C
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NM_000052.7(ATP7A):c.3294+2T>C
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NM_000052.7(ATP7A):c.3299T>C (p.Leu1100Pro)
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NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr)
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rs2149107157
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NM_000052.7(ATP7A):c.3352G>A (p.Gly1118Ser)
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NM_000052.7(ATP7A):c.3353G>A (p.Gly1118Asp)
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NM_000052.7(ATP7A):c.3445del (p.Gln1149fs)
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NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)
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rs1288867080
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NM_000052.7(ATP7A):c.3492del (p.Ile1165fs)
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NM_000052.7(ATP7A):c.3511+1G>A
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NM_000052.7(ATP7A):c.3511+8A>C
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rs2149107265
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NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)
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rs876661235
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NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
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rs2149109587
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NM_000052.7(ATP7A):c.3681del (p.Ile1228fs)
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NM_000052.7(ATP7A):c.3693_3694del (p.Val1232fs)
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NM_000052.7(ATP7A):c.3705del (p.Ala1236fs)
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NM_000052.7(ATP7A):c.3763G>A (p.Gly1255Arg)
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NM_000052.7(ATP7A):c.3775A>T (p.Lys1259Ter)
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NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys)
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rs372066609
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NM_000052.7(ATP7A):c.3792del (p.Ile1264fs)
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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.3801+3A>C
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NM_000052.7(ATP7A):c.3801+4A>G
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rs797045387
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NM_000052.7(ATP7A):c.3811A>G (p.Thr1271Ala)
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NM_000052.7(ATP7A):c.3836C>T (p.Pro1279Leu)
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NM_000052.7(ATP7A):c.3844A>G (p.Lys1282Glu)
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NM_000052.7(ATP7A):c.3862C>T (p.Gln1288Ter)
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NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
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rs999014839
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NM_000052.7(ATP7A):c.3882del (p.Lys1294fs)
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NM_000052.7(ATP7A):c.3899G>A (p.Gly1300Glu)
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NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly)
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rs1557238588
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NM_000052.7(ATP7A):c.3904G>A (p.Gly1302Arg)
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NM_000052.7(ATP7A):c.3905G>A (p.Gly1302Glu)
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NM_000052.7(ATP7A):c.3905G>T (p.Gly1302Val)
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NM_000052.7(ATP7A):c.3912T>A (p.Asn1304Lys)
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NM_000052.7(ATP7A):c.3914A>C (p.Asp1305Ala)
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NM_000052.7(ATP7A):c.3914A>G (p.Asp1305Gly)
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NM_000052.7(ATP7A):c.3923C>A (p.Ala1308Asp)
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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.3947T>G (p.Ile1316Ser)
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NM_000052.7(ATP7A):c.3974C>T (p.Ala1325Val)
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NM_000052.7(ATP7A):c.3980A>G (p.Glu1327Gly)
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rs2149111854
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NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
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|
NM_000052.7(ATP7A):c.4005+1del
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NM_000052.7(ATP7A):c.4005+5G>A
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NM_000052.7(ATP7A):c.4006-2A>G
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NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del)
|
rs797045392
|
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NM_000052.7(ATP7A):c.4030_4031insTGCCA (p.Ser1344fs)
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NM_000052.7(ATP7A):c.4032_4033delinsAT (p.Ser1344_Ile1345delinsArgPhe)
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NM_000052.7(ATP7A):c.4057_4058dup (p.Ile1355fs)
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NM_000052.7(ATP7A):c.4085C>A (p.Ala1362Asp)
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NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val)
|
rs2149112273
|
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NM_000052.7(ATP7A):c.408_415del (p.Asn137fs)
|
rs1569549587
|
|
NM_000052.7(ATP7A):c.4105G>A (p.Gly1369Arg)
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NM_000052.7(ATP7A):c.4117G>C (p.Ala1373Pro)
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NM_000052.7(ATP7A):c.4118C>T (p.Ala1373Val)
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NM_000052.7(ATP7A):c.4123+1G>A
|
rs797045393
|
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NM_000052.7(ATP7A):c.4123+3A>T
|
rs2149112301
|
|
NM_000052.7(ATP7A):c.4123+5G>A
|
|
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NM_000052.7(ATP7A):c.4124-538A>G
|
rs2149113261
|
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NM_000052.7(ATP7A):c.4132dup (p.Met1378fs)
|
rs797045395
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
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NM_000052.7(ATP7A):c.4167del (p.Ser1390fs)
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NM_000052.7(ATP7A):c.4177A>G (p.Met1393Val)
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NM_000052.7(ATP7A):c.4178T>C (p.Met1393Thr)
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NM_000052.7(ATP7A):c.4190C>T (p.Ser1397Phe)
|
rs2149113551
|
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NM_000052.7(ATP7A):c.4198_4199del (p.Val1400fs)
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NM_000052.7(ATP7A):c.4210_4226+19del
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NM_000052.7(ATP7A):c.4226+1G>A
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NM_000052.7(ATP7A):c.4226+2T>C
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NM_000052.7(ATP7A):c.4226+5G>A
|
rs797045398
|
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NM_000052.7(ATP7A):c.4226+6T>C
|
|
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NM_000052.7(ATP7A):c.4238C>G (p.Pro1413Arg)
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NM_000052.7(ATP7A):c.4261C>T (p.Pro1421Ser)
|
rs2149113961
|
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NM_000052.7(ATP7A):c.463A>T (p.Lys155Ter)
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NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
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NM_000052.7(ATP7A):c.521del (p.Lys174fs)
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NM_000052.7(ATP7A):c.526_529dup (p.Val177fs)
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NM_000052.7(ATP7A):c.532G>T (p.Glu178Ter)
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NM_000052.7(ATP7A):c.589C>T (p.Gln197Ter)
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NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
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NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
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NM_000052.7(ATP7A):c.659_663del (p.Ile220fs)
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NM_000052.7(ATP7A):c.659_666del (p.Ile220fs)
|
|
|
NM_000052.7(ATP7A):c.693del (p.Met232fs)
|
|
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NM_000052.7(ATP7A):c.721C>T (p.Gln241Ter)
|
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NM_000052.7(ATP7A):c.890del (p.Ser297fs)
|
|
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NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu)
|
rs1569549378
|
|
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
|
rs2077548318
|
|
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu)
|
rs2077548355
|
|