NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00413
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00151
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00145
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00094
|
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)
|
rs377267217
|
0.00076
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00058
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00049
|
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met)
|
rs192957846
|
0.00041
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=)
|
rs80145681
|
0.00034
|
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)
|
rs201061621
|
0.00032
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)
|
rs145173864
|
0.00025
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00024
|
NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val)
|
rs553861183
|
0.00019
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00017
|
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=)
|
rs150018860
|
0.00016
|
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly)
|
rs777096464
|
0.00016
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)
|
rs200642204
|
0.00014
|
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00014
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00013
|
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)
|
rs373528664
|
0.00012
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr)
|
rs370203816
|
0.00011
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)
|
rs750530407
|
0.00011
|
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)
|
rs200728096
|
0.00010
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr)
|
rs531199827
|
0.00009
|
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu)
|
rs368381292
|
0.00008
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00008
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00008
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00008
|
NM_000053.4(ATP7B):c.-122G>A
|
rs886050311
|
0.00007
|
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)
|
rs771789585
|
0.00007
|
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)
|
rs539585071
|
0.00007
|
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val)
|
rs367855110
|
0.00007
|
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=)
|
rs748003525
|
0.00007
|
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
|
rs182659444
|
0.00007
|
NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met)
|
rs528603867
|
0.00007
|
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)
|
rs201200863
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)
|
rs532177115
|
0.00006
|
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)
|
rs755476114
|
0.00006
|
NM_000053.4(ATP7B):c.589C>T (p.Leu197Phe)
|
rs745909234
|
0.00006
|
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val)
|
rs200866801
|
0.00006
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000053.4(ATP7B):c.1285+8G>A
|
rs377584333
|
0.00005
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00005
|
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr)
|
rs373698024
|
0.00005
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00005
|
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)
|
rs372435824
|
0.00005
|
NM_000053.4(ATP7B):c.582C>T (p.Pro194=)
|
rs780671732
|
0.00005
|
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile)
|
rs771501259
|
0.00005
|
NM_000053.4(ATP7B):c.993C>T (p.Ala331=)
|
rs377294197
|
0.00005
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)
|
rs750724856
|
0.00004
|
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys)
|
rs376565432
|
0.00004
|
NM_000053.4(ATP7B):c.2833A>G (p.Ile945Val)
|
rs373757123
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr)
|
rs769531525
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val)
|
rs769949264
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000053.4(ATP7B):c.512T>C (p.Val171Ala)
|
rs936120525
|
0.00004
|
NM_000053.4(ATP7B):c.111T>A (p.Phe37Leu)
|
rs748698125
|
0.00003
|
NM_000053.4(ATP7B):c.1171T>C (p.Ser391Pro)
|
rs755785474
|
0.00003
|
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala)
|
rs532864884
|
0.00003
|
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr)
|
rs578173224
|
0.00003
|
NM_000053.4(ATP7B):c.2046G>C (p.Met682Ile)
|
rs370398602
|
0.00003
|
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00003
|
NM_000053.4(ATP7B):c.2298G>A (p.Thr766=)
|
rs759444110
|
0.00003
|
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)
|
rs776668666
|
0.00003
|
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)
|
rs137853284
|
0.00003
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
0.00003
|
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del)
|
rs772383075
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00003
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00003
|
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile)
|
rs761147984
|
0.00003
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)
|
rs764131178
|
0.00003
|
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His)
|
rs773917820
|
0.00003
|
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr)
|
rs777879359
|
0.00003
|
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr)
|
rs758025913
|
0.00003
|
NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=)
|
rs763228636
|
0.00003
|
NM_000053.4(ATP7B):c.3670C>T (p.Arg1224Trp)
|
rs746893370
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=)
|
rs772616533
|
0.00003
|
NM_000053.4(ATP7B):c.665T>C (p.Ile222Thr)
|
rs373476328
|
0.00003
|
NM_000053.4(ATP7B):c.946G>A (p.Glu316Lys)
|
rs768818151
|
0.00003
|
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met)
|
rs757716093
|
0.00002
|
NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg)
|
rs775080615
|
0.00002
|
NM_000053.4(ATP7B):c.1828C>G (p.Pro610Ala)
|
rs753069338
|
0.00002
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00002
|
NM_000053.4(ATP7B):c.1873A>G (p.Ile625Val)
|
rs778963465
|
0.00002
|
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=)
|
rs756958229
|
0.00002
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
0.00002
|
NM_000053.4(ATP7B):c.227T>C (p.Ile76Thr)
|
rs747911411
|
0.00002
|
NM_000053.4(ATP7B):c.2435A>G (p.Asn812Ser)
|
rs746273315
|
0.00002
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
|
rs1441316018
|
0.00002
|
NM_000053.4(ATP7B):c.3313A>G (p.Lys1105Glu)
|
rs1957395448
|
0.00002
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=)
|
rs774584291
|
0.00002
|
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)
|
rs568009639
|
0.00002
|
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly)
|
rs372042739
|
0.00002
|
NM_000053.4(ATP7B):c.3845T>C (p.Val1282Ala)
|
rs754148852
|
0.00002
|
NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly)
|
rs753045361
|
0.00002
|
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)
|
rs564541246
|
0.00002
|
NM_000053.4(ATP7B):c.4045G>C (p.Val1349Leu)
|
rs374924611
|
0.00002
|
NM_000053.4(ATP7B):c.4175T>C (p.Met1392Thr)
|
rs199821965
|
0.00002
|
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln)
|
rs769672624
|
0.00002
|
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile)
|
rs199634511
|
0.00002
|
NM_000053.4(ATP7B):c.632A>G (p.Lys211Arg)
|
rs1314321927
|
0.00002
|
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)
|
rs749626601
|
0.00002
|
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)
|
rs201855906
|
0.00001
|
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=)
|
rs759359836
|
0.00001
|
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val)
|
rs775754066
|
0.00001
|
NM_000053.4(ATP7B):c.113C>A (p.Ala38Asp)
|
rs935963471
|
0.00001
|
NM_000053.4(ATP7B):c.1161G>A (p.Val387=)
|
rs748788136
|
0.00001
|
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)
|
rs770903362
|
0.00001
|
NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro)
|
rs769215829
|
0.00001
|
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=)
|
rs372068316
|
0.00001
|
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)
|
rs572122562
|
0.00001
|
NM_000053.4(ATP7B):c.164C>T (p.Ser55Phe)
|
rs574071838
|
0.00001
|
NM_000053.4(ATP7B):c.1708-1G>C
|
rs137853280
|
0.00001
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs)
|
rs1566559605
|
0.00001
|
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)
|
rs797045402
|
0.00001
|
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
|
rs374172791
|
0.00001
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
NM_000053.4(ATP7B):c.1857C>A (p.Ile619=)
|
rs765501756
|
0.00001
|
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr)
|
rs377670877
|
0.00001
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2020C>A (p.Pro674Thr)
|
rs1214560420
|
0.00001
|
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val)
|
rs1555291836
|
0.00001
|
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)
|
rs778768103
|
0.00001
|
NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile)
|
rs749972036
|
0.00001
|
NM_000053.4(ATP7B):c.2121+4T>C
|
rs376318728
|
0.00001
|
NM_000053.4(ATP7B):c.2122-1G>C
|
rs1319653818
|
0.00001
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
0.00001
|
NM_000053.4(ATP7B):c.2215A>G (p.Ile739Val)
|
rs1469592954
|
0.00001
|
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)
|
rs769927137
|
0.00001
|
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=)
|
rs755387536
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val)
|
rs778579276
|
0.00001
|
NM_000053.4(ATP7B):c.2355+4A>G
|
rs776572343
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2400C>T (p.Ala800=)
|
rs760562006
|
0.00001
|
NM_000053.4(ATP7B):c.2447+16C>T
|
rs368512324
|
0.00001
|
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=)
|
rs759213674
|
0.00001
|
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)
|
rs748113748
|
0.00001
|
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)
|
rs768671894
|
0.00001
|
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)
|
rs777629392
|
0.00001
|
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val)
|
rs758360345
|
0.00001
|
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu)
|
rs775553302
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.2679C>T (p.Asp893=)
|
rs755739707
|
0.00001
|
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp)
|
rs923227127
|
0.00001
|
NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln)
|
rs574579593
|
0.00001
|
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro)
|
rs1555288410
|
0.00001
|
NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter)
|
rs776002066
|
0.00001
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2836G>A (p.Asp946Asn)
|
rs370961504
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=)
|
rs751802421
|
0.00001
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
0.00001
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)
|
rs751078884
|
0.00001
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
0.00001
|
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)
|
rs886043423
|
0.00001
|
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro)
|
rs373601229
|
0.00001
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly)
|
rs1022670769
|
0.00001
|
NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser)
|
rs1161694801
|
0.00001
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)
|
rs775541743
|
0.00001
|
NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro)
|
rs377297166
|
0.00001
|
NM_000053.4(ATP7B):c.3490G>A (p.Asp1164Asn)
|
rs867107727
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val)
|
rs745679410
|
0.00001
|
NM_000053.4(ATP7B):c.35A>T (p.Glu12Val)
|
rs374944498
|
0.00001
|
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser)
|
rs745918596
|
0.00001
|
NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile)
|
rs1345433491
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
|
rs769484789
|
0.00001
|
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)
|
rs755202606
|
0.00001
|
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)
|
rs373748155
|
0.00001
|
NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile)
|
rs753044473
|
0.00001
|
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr)
|
rs548512104
|
0.00001
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
0.00001
|
NM_000053.4(ATP7B):c.4021+3A>G
|
rs565970531
|
0.00001
|
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)
|
rs587783317
|
0.00001
|
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)
|
rs779494870
|
0.00001
|
NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu)
|
rs947156425
|
0.00001
|
NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=)
|
rs200582826
|
0.00001
|
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)
|
rs786204578
|
0.00001
|
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)
|
rs759551693
|
0.00001
|
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)
|
rs776848753
|
0.00001
|
NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu)
|
rs1956864058
|
0.00001
|
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=)
|
rs747816425
|
0.00001
|
NM_000053.4(ATP7B):c.4288C>A (p.Leu1430Met)
|
rs899484304
|
0.00001
|
NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn)
|
rs148081616
|
0.00001
|
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)
|
rs201483366
|
0.00001
|
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
|
rs1345677703
|
0.00001
|
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro)
|
rs377492122
|
0.00001
|
NM_000053.4(ATP7B):c.459C>T (p.Thr153=)
|
rs1009053966
|
0.00001
|
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln)
|
rs150490315
|
0.00001
|
NM_000053.4(ATP7B):c.501A>T (p.Lys167Asn)
|
rs780763517
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000053.4(ATP7B):c.52-1G>T
|
rs1057517351
|
0.00001
|
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)
|
rs756718353
|
0.00001
|
NM_000053.4(ATP7B):c.599A>G (p.His200Arg)
|
rs975678311
|
0.00001
|
NM_000053.4(ATP7B):c.613G>A (p.Gly205Arg)
|
rs528587507
|
0.00001
|
NM_000053.4(ATP7B):c.694C>T (p.Pro232Ser)
|
rs201388026
|
0.00001
|
NM_000053.4(ATP7B):c.769G>T (p.Val257Phe)
|
rs373242731
|
0.00001
|
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg)
|
rs1349622044
|
0.00001
|
NM_000053.4(ATP7B):c.943A>G (p.Ile315Val)
|
rs745596221
|
0.00001
|
NM_000053.4(ATP7B):c.990A>G (p.Gly330=)
|
rs754086671
|
0.00001
|
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
|
|
|
NC_000013.11:g.52011725G>A
|
rs913869716
|
|
NM_000053.4(ATP7B):c.-36C>T
|
|
|
NM_000053.4(ATP7B):c.1007C>T (p.Thr336Ile)
|
|
|
NM_000053.4(ATP7B):c.1017del (p.Arg339fs)
|
rs2547815959
|
|
NM_000053.4(ATP7B):c.1025G>T (p.Ser342Ile)
|
|
|
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)
|
rs1057516516
|
|
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)
|
rs1176709391
|
|
NM_000053.4(ATP7B):c.1157G>A (p.Gly386Glu)
|
|
|
NM_000053.4(ATP7B):c.1162C>G (p.Gln388Glu)
|
rs187209079
|
|
NM_000053.4(ATP7B):c.1163A>G (p.Gln388Arg)
|
|
|
NM_000053.4(ATP7B):c.1223T>G (p.Ile408Ser)
|
|
|
NM_000053.4(ATP7B):c.1288A>T (p.Ser430Cys)
|
|
|
NM_000053.4(ATP7B):c.1291T>G (p.Cys431Gly)
|
rs145173864
|
|
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser)
|
rs763788226
|
|
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys)
|
rs1209726590
|
|
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)
|
rs1060499593
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.148G>A (p.Gly50Ser)
|
|
|
NM_000053.4(ATP7B):c.1500A>G (p.Ala500=)
|
|
|
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs)
|
rs772000260
|
|
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)
|
rs1449610384
|
|
NM_000053.4(ATP7B):c.1543+1G>T
|
rs1360279134
|
|
NM_000053.4(ATP7B):c.1543+40G>A
|
|
|
NM_000053.4(ATP7B):c.1612C>T (p.Gln538Ter)
|
rs2547778738
|
|
NM_000053.4(ATP7B):c.1648_1654del (p.Gly550fs)
|
rs1951680623
|
|
NM_000053.4(ATP7B):c.164_166del (p.Ser55_Gln56delinsTer)
|
|
|
NM_000053.4(ATP7B):c.1654G>C (p.Glu552Gln)
|
rs1951680524
|
|
NM_000053.4(ATP7B):c.1707+17C>A
|
rs199571857
|
|
NM_000053.4(ATP7B):c.1707+1G>A
|
rs377001615
|
|
NM_000053.4(ATP7B):c.1707+9T>G
|
|
|
NM_000053.4(ATP7B):c.1708-1G>A
|
rs137853280
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.1802C>T (p.Thr601Ile)
|
|
|
NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly)
|
rs371038011
|
|
NM_000053.4(ATP7B):c.1869+18_1869+20del
|
rs758773114
|
|
NM_000053.4(ATP7B):c.186C>T (p.Val62=)
|
rs1187762934
|
|
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter)
|
rs375542827
|
|
NM_000053.4(ATP7B):c.1963del (p.Leu655fs)
|
rs2139612433
|
|
NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln)
|
rs2139612314
|
|
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)
|
rs574041847
|
|
NM_000053.4(ATP7B):c.199A>G (p.Met67Val)
|
rs2547825222
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2008T>G (p.Tyr670Asp)
|
|
|
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)
|
rs1555291870
|
|
NM_000053.4(ATP7B):c.2071G>C (p.Gly691Arg)
|
rs121908001
|
|
NM_000053.4(ATP7B):c.2072G>A (p.Gly691Glu)
|
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2122-1G>A
|
rs1319653818
|
|
NM_000053.4(ATP7B):c.2122-6T>C
|
|
|
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)
|
rs1555291285
|
|
NM_000053.4(ATP7B):c.213_214del (p.Val73fs)
|
rs1445951068
|
|
NM_000053.4(ATP7B):c.217G>A (p.Val73Met)
|
|
|
NM_000053.4(ATP7B):c.2191G>T (p.Val731Leu)
|
rs762746959
|
|
NM_000053.4(ATP7B):c.2199C>G (p.Ile733Met)
|
|
|
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)
|
rs1593726081
|
|
NM_000053.4(ATP7B):c.2252C>A (p.Ala751Asp)
|
|
|
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)
|
rs766907687
|
|
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)
|
rs121907997
|
|
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)
|
rs1057516844
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)
|
rs28942074
|
|
NM_000053.4(ATP7B):c.2356-2A>T
|
rs2139505830
|
|
NM_000053.4(ATP7B):c.2368_2373delinsTGTCTCTGGCTAAA (p.Glu790fs)
|
|
|
NM_000053.4(ATP7B):c.2392C>G (p.Leu798Val)
|
|
|
NM_000053.4(ATP7B):c.2410dup (p.Thr804fs)
|
rs2547709820
|
|
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser)
|
rs1555296815
|
|
NM_000053.4(ATP7B):c.2467dup (p.Glu823fs)
|
|
|
NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2506G>C (p.Gly836Arg)
|
|
|
NM_000053.4(ATP7B):c.2509G>A (p.Gly837Arg)
|
|
|
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs)
|
rs964976261
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
NM_000053.4(ATP7B):c.2584A>G (p.Met862Val)
|
|
|
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu)
|
rs121907994
|
|
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)
|
rs1340729837
|
|
NM_000053.4(ATP7B):c.2682del (p.Thr895fs)
|
|
|
NM_000053.4(ATP7B):c.2695A>T (p.Ile899Phe)
|
|
|
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)
|
rs2139201690
|
|
NM_000053.4(ATP7B):c.2705T>C (p.Leu902Pro)
|
|
|
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)
|
rs2547669800
|
|
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val)
|
rs1014184765
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.276C>T (p.Ser92=)
|
rs1952032120
|
|
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)
|
rs1566498495
|
|
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)
|
rs1057517310
|
|
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)
|
rs28942076
|
|
NM_000053.4(ATP7B):c.2870C>G (p.Pro957Arg)
|
|
|
NM_000053.4(ATP7B):c.291dup (p.Ala98fs)
|
rs1566603492
|
|
NM_000053.4(ATP7B):c.2931G>A (p.Thr977=)
|
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
NM_000053.4(ATP7B):c.2995A>T (p.Thr999Ser)
|
rs1593681041
|
|
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)
|
rs1957653671
|
|
NM_000053.4(ATP7B):c.3022C>T (p.Leu1008Phe)
|
|
|
NM_000053.4(ATP7B):c.3036del (p.Lys1013fs)
|
|
|
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu)
|
rs2139048200
|
|
NM_000053.4(ATP7B):c.3060+2T>C
|
rs2139045834
|
|
NM_000053.4(ATP7B):c.3061-12T>G
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3061-2A>G
|
rs1957520924
|
|
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs)
|
rs1331370011
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)
|
rs762031690
|
|
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs)
|
rs1555286522
|
|
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)
|
rs376910645
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3256_3259dup (p.Thr1087fs)
|
|
|
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)
|
rs1555285911
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000053.4(ATP7B):c.3274A>C (p.Thr1092Pro)
|
|
|
NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu)
|
rs1957397703
|
|
NM_000053.4(ATP7B):c.3283del (p.Gln1095fs)
|
rs764108297
|
|
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)
|
rs1555285891
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.3335T>G (p.Ile1112Ser)
|
rs746731660
|
|
NM_000053.4(ATP7B):c.3361A>G (p.Ser1121Gly)
|
|
|
NM_000053.4(ATP7B):c.3373A>C (p.Ser1125Arg)
|
|
|
NM_000053.4(ATP7B):c.3418_3419delinsTC (p.Val1140Ser)
|
|
|
NM_000053.4(ATP7B):c.3424dup (p.Gln1142fs)
|
|
|
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del)
|
rs1555285393
|
|
NM_000053.4(ATP7B):c.3445G>A (p.Gly1149Arg)
|
rs1957309469
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser)
|
rs777879359
|
|
NM_000053.4(ATP7B):c.3535G>A (p.Ala1179Thr)
|
|
|
NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr)
|
rs2138775370
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)
|
rs748924063
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.355A>C (p.Met119Leu)
|
|
|
NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs)
|
rs2138673853
|
|
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)
|
rs1432190775
|
|
NM_000053.4(ATP7B):c.3563T>C (p.Leu1188Pro)
|
|
|
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=)
|
rs755324767
|
|
NM_000053.4(ATP7B):c.3632G>C (p.Ser1211Thr)
|
|
|
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)
|
rs781266802
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
|
rs532177115
|
|
NM_000053.4(ATP7B):c.3699+1G>T
|
|
|
NM_000053.4(ATP7B):c.3700-1G>A
|
rs1555284021
|
|
NM_000053.4(ATP7B):c.372C>G (p.Ser124Arg)
|
|
|
NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs)
|
rs1462451206
|
|
NM_000053.4(ATP7B):c.3750del (p.Lys1251fs)
|
|
|
NM_000053.4(ATP7B):c.3774del (p.Lys1260fs)
|
|
|
NM_000053.4(ATP7B):c.3796G>T (p.Gly1266Trp)
|
|
|
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
|
rs1375884723
|
|
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val)
|
rs755202606
|
|
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)
|
rs1957043255
|
|
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)
|
rs1340942427
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.3904-11C>T
|
rs2547565798
|
|
NM_000053.4(ATP7B):c.3904-12C>T
|
|
|
NM_000053.4(ATP7B):c.3904-2A>G
|
rs1057517233
|
|
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly)
|
rs1210164486
|
|
NM_000053.4(ATP7B):c.3929G>A (p.Ser1310Asn)
|
rs768722570
|
|
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His)
|
rs753330854
|
|
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)
|
rs1566441447
|
|
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)
|
rs1555283564
|
|
NM_000053.4(ATP7B):c.4021+1G>A
|
rs2547563651
|
|
NM_000053.4(ATP7B):c.4021+5_4021+8del
|
|
|
NM_000053.4(ATP7B):c.4059G>C (p.Trp1353Cys)
|
|
|
NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro)
|
rs1555282748
|
|
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
|
rs557577836
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)
|
rs1555282678
|
|
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)
|
rs755584106
|
|
NM_000053.4(ATP7B):c.411del (p.Leu138fs)
|
|
|
NM_000053.4(ATP7B):c.4125-2A>G
|
rs1555282347
|
|
NM_000053.4(ATP7B):c.4125C>G (p.Cys1375Trp)
|
|
|
NM_000053.4(ATP7B):c.4151A>G (p.Tyr1384Cys)
|
|
|
NM_000053.4(ATP7B):c.4180C>A (p.Pro1394Thr)
|
|
|
NM_000053.4(ATP7B):c.4227G>T (p.Arg1409Ser)
|
|
|
NM_000053.4(ATP7B):c.4306_4316del (p.Asp1436fs)
|
|
|
NM_000053.4(ATP7B):c.430G>A (p.Val144Met)
|
|
|
NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)
|
rs1956854198
|
|
NM_000053.4(ATP7B):c.447G>A (p.Val149=)
|
rs776619662
|
|
NM_000053.4(ATP7B):c.447_452delinsC (p.Glu150fs)
|
rs779669186
|
|
NM_000053.4(ATP7B):c.483T>C (p.Ile161=)
|
rs2140100275
|
|
NM_000053.4(ATP7B):c.486A>C (p.Glu162Asp)
|
rs1290525428
|
|
NM_000053.4(ATP7B):c.494T>C (p.Val165Ala)
|
|
|
NM_000053.4(ATP7B):c.494T>G (p.Val165Gly)
|
|
|
NM_000053.4(ATP7B):c.51+5G>A
|
|
|
NM_000053.4(ATP7B):c.51dup
|
rs1954023351
|
|
NM_000053.4(ATP7B):c.52-1G>A
|
rs1057517351
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.527T>C (p.Val176Ala)
|
|
|
NM_000053.4(ATP7B):c.528del (p.Ser177fs)
|
rs2140098691
|
|
NM_000053.4(ATP7B):c.542_543del (p.Gln181fs)
|
|
|
NM_000053.4(ATP7B):c.555C>G (p.Ile185Met)
|
rs1269310289
|
|
NM_000053.4(ATP7B):c.583G>A (p.Glu195Lys)
|
|
|
NM_000053.4(ATP7B):c.62A>T (p.Lys21Met)
|
rs199514391
|
|
NM_000053.4(ATP7B):c.652A>C (p.Ser218Arg)
|
|
|
NM_000053.4(ATP7B):c.6del (p.Glu3fs)
|
|
|
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del)
|
rs1417723997
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.79C>T (p.Arg27Cys)
|
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)
|
rs1555296356
|
|
NM_000053.4(ATP7B):c.845del (p.Leu282fs)
|
rs193922111
|
|
NM_000053.4(ATP7B):c.889G>T (p.Ala297Ser)
|
|
|
NM_000053.4(ATP7B):c.903T>A (p.Tyr301Ter)
|
rs942967963
|
|
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)
|
rs398123137
|
|
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
|
rs753674382
|
|
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)
|
rs761084829
|
|