NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)
|
rs138154934
|
0.00078
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
|
rs185917115
|
0.00012
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
|
rs149841982
|
0.00006
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
|
rs207478437
|
0.00005
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
|
rs782475540
|
0.00005
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
|
rs781970260
|
0.00005
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000052.7(ATP7A):c.729G>A (p.Lys243=)
|
rs782326318
|
0.00004
|
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly)
|
rs1557232788
|
0.00003
|
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=)
|
rs1297787618
|
0.00003
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
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.1543+9C>G
|
rs367977602
|
0.00002
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=)
|
rs781957241
|
0.00002
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
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.317C>T (p.Thr106Ile)
|
rs782647620
|
0.00002
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
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.1152T>C (p.Asp384=)
|
rs147225045
|
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.1384C>G (p.Pro462Ala)
|
rs781964005
|
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.3696G>A (p.Val1232=)
|
rs1557238252
|
0.00001
|
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
|
rs962646396
|
0.00001
|
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=)
|
rs1271447006
|
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.4497A>C (p.Ala1499=)
|
rs782053901
|
0.00001
|
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu)
|
rs782716555
|
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
|
GRCh37/hg19 Xq21.1(chrX:77238734-77312616)
|
|
|
GRCh37/hg19 Xq21.1(chrX:77244108-77244998)
|
|
|
NC_000023.10:g.(77284942_77286897)_(77289271_77294333)del
|
|
|
NG_013224.2:g.(66066_82545)_(84263_92781)del
|
|
|
NM_000052.6(ATP7A):c.3152_3156delACGGAins4
|
|
|
NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter)
|
rs797045325
|
|
NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs)
|
rs797045327
|
|
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.1355del (p.Val452fs)
|
rs797045329
|
|
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.1544-1G>A
|
rs797045331
|
|
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.1667_1668del (p.Ile556fs)
|
rs797045333
|
|
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.1788C>A (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr)
|
rs2149093552
|
|
NM_000052.7(ATP7A):c.1818del (p.Lys607fs)
|
|
|
NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter)
|
rs797045337
|
|
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser)
|
rs1569549840
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
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.1898_1911del (p.Lys633fs)
|
rs2149094952
|
|
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.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
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>A
|
rs794729231
|
|
NM_000052.7(ATP7A):c.1947-1G>C
|
rs794729231
|
|
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.1950G>A (p.Trp650Ter)
|
rs797045342
|
|
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.1978_2008dup (p.Tyr670fs)
|
rs797045343
|
|
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg)
|
rs797045344
|
|
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.2063G>A (p.Ser688Asn)
|
rs1367140209
|
|
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.2160T>A (p.Cys720Ter)
|
rs797045346
|
|
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.2173-2A>G
|
rs797045349
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter)
|
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.2248_2251dup (p.Val751fs)
|
rs797045352
|
|
NM_000052.7(ATP7A):c.2280C>G (p.Tyr760Ter)
|
|
|
NM_000052.7(ATP7A):c.2281T>C (p.Ser761Pro)
|
|
|
NM_000052.7(ATP7A):c.2284_2285del (p.Leu762fs)
|
|
|
NM_000052.7(ATP7A):c.2302del (p.Ala768fs)
|
rs797045353
|
|
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.2357T>G (p.Met786Arg)
|
rs797045354
|
|
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.2395_2405delinsAGCATC (p.His799fs)
|
rs797045355
|
|
NM_000052.7(ATP7A):c.2405_2406+1delinsT
|
rs797045356
|
|
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.2498+2T>A
|
rs797045357
|
|
NM_000052.7(ATP7A):c.2499-1G>A
|
rs797045359
|
|
NM_000052.7(ATP7A):c.2499-1_2504dup
|
rs797045358
|
|
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.2645dup (p.Ala882_Lys883insTer)
|
rs797045361
|
|
NM_000052.7(ATP7A):c.2686C>T (p.Gln896Ter)
|
|
|
NM_000052.7(ATP7A):c.2743C>T (p.Gln915Ter)
|
|
|
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp)
|
rs797045362
|
|
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.2781G>C (p.Lys927Asn)
|
rs797045363
|
|
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg)
|
rs539177302
|
|
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs)
|
rs1603387278
|
|
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+3_2916+6del
|
rs797045364
|
|
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.2981C>T (p.Thr994Ile)
|
rs267606673
|
|
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.3049G>A (p.Gly1017Arg)
|
rs1557236754
|
|
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.3069_3083del (p.Ile1024_Gly1028del)
|
rs797045366
|
|
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.3124del (p.Val1042fs)
|
rs797045368
|
|
NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly)
|
rs797045369
|
|
NM_000052.7(ATP7A):c.3131A>G (p.Asp1044Gly)
|
|
|
NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu)
|
rs797045370
|
|
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile)
|
rs1064796648
|
|
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu)
|
rs1557237050
|
|
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)
|
|
|
NM_000052.7(ATP7A):c.3257del (p.His1086fs)
|
|
|
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
|
|
|
NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter)
|
rs797045372
|
|
NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter)
|
rs797045373
|
|
NM_000052.7(ATP7A):c.3293_3294del (p.Gln1098fs)
|
|
|
NM_000052.7(ATP7A):c.3294+1G>C
|
|
|
NM_000052.7(ATP7A):c.3294+1G>T
|
rs797045374
|
|
NM_000052.7(ATP7A):c.3294+2T>C
|
|
|
NM_000052.7(ATP7A):c.3299T>C (p.Leu1100Pro)
|
|
|
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr)
|
rs2149107157
|
|
NM_000052.7(ATP7A):c.3340del (p.Val1114fs)
|
rs797045375
|
|
NM_000052.7(ATP7A):c.3352G>A (p.Gly1118Ser)
|
|
|
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys)
|
rs797045376
|
|
NM_000052.7(ATP7A):c.3353G>A (p.Gly1118Asp)
|
|
|
NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter)
|
rs797045377
|
|
NM_000052.7(ATP7A):c.3445del (p.Gln1149fs)
|
|
|
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)
|
rs1288867080
|
|
NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter)
|
rs797045378
|
|
NM_000052.7(ATP7A):c.3492del (p.Ile1165fs)
|
|
|
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter)
|
rs797045379
|
|
NM_000052.7(ATP7A):c.3511+1G>A
|
|
|
NM_000052.7(ATP7A):c.3511+8A>C
|
rs2149107265
|
|
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)
|
rs876661235
|
|
NM_000052.7(ATP7A):c.3537del (p.Val1180fs)
|
rs797045380
|
|
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
|
rs2149109587
|
|
NM_000052.7(ATP7A):c.3681del (p.Ile1228fs)
|
|
|
NM_000052.7(ATP7A):c.3693_3694del (p.Val1232fs)
|
|
|
NM_000052.7(ATP7A):c.3705del (p.Ala1236fs)
|
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
NM_000052.7(ATP7A):c.3763G>A (p.Gly1255Arg)
|
|
|
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu)
|
rs797045382
|
|
NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer)
|
rs797045383
|
|
NM_000052.7(ATP7A):c.3775A>T (p.Lys1259Ter)
|
|
|
NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs)
|
rs797045384
|
|
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys)
|
rs372066609
|
|
NM_000052.7(ATP7A):c.3792del (p.Ile1264fs)
|
|
|
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu)
|
rs797045385
|
|
NM_000052.7(ATP7A):c.3801+1G>T
|
rs797045386
|
|
NM_000052.7(ATP7A):c.3801+3A>C
|
|
|
NM_000052.7(ATP7A):c.3801+4A>G
|
rs797045387
|
|
NM_000052.7(ATP7A):c.3811A>G (p.Thr1271Ala)
|
|
|
NM_000052.7(ATP7A):c.3836C>T (p.Pro1279Leu)
|
|
|
NM_000052.7(ATP7A):c.3844A>G (p.Lys1282Glu)
|
|
|
NM_000052.7(ATP7A):c.3862C>T (p.Gln1288Ter)
|
|
|
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
|
rs999014839
|
|
NM_000052.7(ATP7A):c.3882del (p.Lys1294fs)
|
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
NM_000052.7(ATP7A):c.3899G>A (p.Gly1300Glu)
|
|
|
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly)
|
rs1557238588
|
|
NM_000052.7(ATP7A):c.3904G>A (p.Gly1302Arg)
|
|
|
NM_000052.7(ATP7A):c.3905G>A (p.Gly1302Glu)
|
|
|
NM_000052.7(ATP7A):c.3905G>T (p.Gly1302Val)
|
|
|
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)
|
rs151340632
|
|
NM_000052.7(ATP7A):c.3912T>A (p.Asn1304Lys)
|
|
|
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn)
|
rs1603391127
|
|
NM_000052.7(ATP7A):c.3914A>C (p.Asp1305Ala)
|
|
|
NM_000052.7(ATP7A):c.3914A>G (p.Asp1305Gly)
|
|
|
NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg)
|
rs797045388
|
|
NM_000052.7(ATP7A):c.3920del (p.Pro1307fs)
|
rs797045389
|
|
NM_000052.7(ATP7A):c.3923C>A (p.Ala1308Asp)
|
|
|
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg)
|
rs797045390
|
|
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
|
|
|
NM_000052.7(ATP7A):c.3974C>T (p.Ala1325Val)
|
|
|
NM_000052.7(ATP7A):c.3980A>G (p.Glu1327Gly)
|
rs2149111854
|
|
NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
|
|
NM_000052.7(ATP7A):c.4005+1del
|
|
|
NM_000052.7(ATP7A):c.4005+5G>A
|
|
|
NM_000052.7(ATP7A):c.4006-2A>G
|
|
|
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del)
|
rs797045392
|
|
NM_000052.7(ATP7A):c.4030_4031insTGCCA (p.Ser1344fs)
|
|
|
NM_000052.7(ATP7A):c.4032_4033delinsAT (p.Ser1344_Ile1345delinsArgPhe)
|
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
NM_000052.7(ATP7A):c.4057_4058dup (p.Ile1355fs)
|
|
|
NM_000052.7(ATP7A):c.4085C>A (p.Ala1362Asp)
|
|
|
NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val)
|
rs2149112273
|
|
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs)
|
rs1569549587
|
|
NM_000052.7(ATP7A):c.4105G>A (p.Gly1369Arg)
|
|
|
NM_000052.7(ATP7A):c.4117G>C (p.Ala1373Pro)
|
|
|
NM_000052.7(ATP7A):c.4118C>T (p.Ala1373Val)
|
|
|
NM_000052.7(ATP7A):c.4123+1G>A
|
rs797045393
|
|
NM_000052.7(ATP7A):c.4123+3A>T
|
rs2149112301
|
|
NM_000052.7(ATP7A):c.4123+5G>A
|
|
|
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg)
|
rs797045394
|
|
NM_000052.7(ATP7A):c.4124-538A>G
|
rs2149113261
|
|
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs)
|
rs797045395
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
|
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
NM_000052.7(ATP7A):c.4167del (p.Ser1390fs)
|
|
|
NM_000052.7(ATP7A):c.4168T>C (p.Ser1390Pro)
|
|
|
NM_000052.7(ATP7A):c.4177A>G (p.Met1393Val)
|
|
|
NM_000052.7(ATP7A):c.4178T>C (p.Met1393Thr)
|
|
|
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu)
|
rs797045396
|
|
NM_000052.7(ATP7A):c.4190C>T (p.Ser1397Phe)
|
rs2149113551
|
|
NM_000052.7(ATP7A):c.4198_4199del (p.Val1400fs)
|
|
|
NM_000052.7(ATP7A):c.4210_4226+19del
|
|
|
NM_000052.7(ATP7A):c.4226+1G>A
|
|
|
NM_000052.7(ATP7A):c.4226+2T>C
|
|
|
NM_000052.7(ATP7A):c.4226+5G>A
|
rs797045398
|
|
NM_000052.7(ATP7A):c.4226+6T>C
|
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
NM_000052.7(ATP7A):c.4238C>G (p.Pro1413Arg)
|
|
|
NM_000052.7(ATP7A):c.4261C>T (p.Pro1421Ser)
|
rs2149113961
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.463A>T (p.Lys155Ter)
|
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
|
|
|
NM_000052.7(ATP7A):c.521del (p.Lys174fs)
|
|
|
NM_000052.7(ATP7A):c.526_529dup (p.Val177fs)
|
|
|
NM_000052.7(ATP7A):c.532G>T (p.Glu178Ter)
|
|
|
NM_000052.7(ATP7A):c.589C>T (p.Gln197Ter)
|
|
|
NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter)
|
rs797045399
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000052.7(ATP7A):c.611-1G>C
|
|
|
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
|
|
|
NM_000052.7(ATP7A):c.659_663del (p.Ile220fs)
|
|
|
NM_000052.7(ATP7A):c.659_666del (p.Ile220fs)
|
|
|
NM_000052.7(ATP7A):c.693del (p.Met232fs)
|
|
|
NM_000052.7(ATP7A):c.721C>T (p.Gln241Ter)
|
|
|
NM_000052.7(ATP7A):c.876del (p.Ser293fs)
|
rs797045400
|
|
NM_000052.7(ATP7A):c.890del (p.Ser297fs)
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NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu)
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rs1569549378
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NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
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rs2077548318
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NM_000052.7(ATP7A):c.97G>C (p.Val33Leu)
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rs2077548355
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