NC_000013.11:g.(?_51937256)_(51939213_?)del


NM_000053.3(ATP7B):c.436_422del15

rs1484840087 
NM_000053.3(ATP7B):c.676A>G

rs1021025464 
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)

rs1057516516 
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)

rs778490238 
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)

rs1176709391 
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer)

rs1555296015 
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)

rs201738967 
NM_000053.4(ATP7B):c.1285+2T>A

rs759749626 
NM_000053.4(ATP7B):c.1285+5G>T

rs370579582 
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs)

rs1057517141 
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)

rs1057517444 
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)

rs1057516305 
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)

rs1060499593 
NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs)

rs1593775055 
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs)

rs1555295017 
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)

rs778675259 
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser)

rs1566580253 
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)

rs1057516418 
NM_000053.4(ATP7B):c.15442A>C

rs1555294398 
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter)

rs773385516 
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)

rs996419100 
NM_000053.4(ATP7B):c.1700_1707+16del

rs1555294199 
NM_000053.4(ATP7B):c.1707+2dup

rs781531824 
NM_000053.4(ATP7B):c.17081G>C

rs137853280 
NM_000053.4(ATP7B):c.17082A>G

rs1057517024 
NM_000053.4(ATP7B):c.17085T>G

rs770829226 
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)

rs1057516893 
NM_000053.4(ATP7B):c.1739del (p.His580fs)

rs1555293357 
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)

rs753962912 
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)

rs1057516561 
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)

rs797045402 
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)

rs780327716 
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)

rs1057516940 
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)


NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)

rs587783299 
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)

rs72552285 
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)

rs72552285 
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)

rs121907998 
NM_000053.4(ATP7B):c.1946+6T>C

rs751287778 
NM_000053.4(ATP7B):c.194719T>A

rs1593733949 
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)

rs72552259 
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)

rs749363958 
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)

rs1474837260 
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)

rs587783301 
NM_000053.4(ATP7B):c.2009_2010AT[3] (p.Met671fs)

rs1555291870 
NM_000053.4(ATP7B):c.2035del (p.His679fs)

rs786204764 
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)

rs1555291848 
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)

rs121908001 
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)

rs1555291801 
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs)

rs1555291784 
NM_000053.4(ATP7B):c.2121+3A>G

rs1248002612 
NM_000053.4(ATP7B):c.21221G>A

rs1319653818 
NM_000053.4(ATP7B):c.21228T>G

rs193922102 
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)

rs1555291285 
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)

rs1057516380 
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs)

rs1555291207 
NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter)

rs1180133690 
NM_000053.4(ATP7B):c.2231_2232CT[1] (p.Leu745fs)

rs1555291195 
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)

rs372979339 
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)

rs1555291147 
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)

rs121907997 
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)

rs1057516844 
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)

rs193922103 
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)

rs137853284 
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)

rs751798708 
NM_000053.4(ATP7B):c.2355+4A>G

rs776572343 
NM_000053.4(ATP7B):c.23561G>A

rs1555290925 
NM_000053.4(ATP7B):c.23561G>C

rs1555290925 
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)

rs751710854 
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)

rs770020484 
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs)

rs1555290810 
NM_000053.4(ATP7B):c.2447+1del

rs1057516732 
NM_000053.4(ATP7B):c.2447+2T>G

rs1555290800 
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly)

rs1566503575 
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)

rs777362050 
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)

rs777629392 
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)

rs786204643 
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)

rs1057520235 
NM_000053.4(ATP7B):c.2575+1G>A

rs766149114 
NM_000053.4(ATP7B):c.2575+1G>C

rs766149114 
NM_000053.4(ATP7B):c.25762A>G

rs757265256 
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)

rs191312027 
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)

rs376355660 
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)

rs121907994 
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)

rs786204718 
NM_000053.4(ATP7B):c.2730+1G>A

rs1057516425 
NM_000053.4(ATP7B):c.27312A>G

rs367956522 
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter)

rs1555288479 
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)

rs540935874 
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)

rs121907993 
NM_000053.4(ATP7B):c.2784_2786CAT[2] (p.Ile930del)


NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)

rs750019452 
NM_000053.4(ATP7B):c.2810del (p.Val937fs)

rs1057516643 
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)

rs1057517310 
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)

rs1555288385 
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)

rs28942076 
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)

rs779323689 
NM_000053.4(ATP7B):c.2865+1G>A

rs587783306 
NM_000053.4(ATP7B):c.2901del (p.Ile968fs)

rs1064796054 
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)

rs774028495 
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)

rs1038582488 
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)

rs193922104 
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)

rs199623434 
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)

rs1057518867 
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)

rs41292782 
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)

rs751078884 
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)

rs201497300 
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)

rs775055397 
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)


NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)

rs1555287300 
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)

rs371840514 
NM_000053.4(ATP7B):c.3060+5G>T


NM_000053.4(ATP7B):c.306112T>A

rs1045194246 
NM_000053.4(ATP7B):c.30612A>G


NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg)

rs1555286633 
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)

rs1593672840 
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)

rs1555286628 
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)


NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)

rs753594031 
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)

rs746485916 
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)

rs1412025509 
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)

rs753236073 
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs)

rs1555286522 
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)

rs587783309 
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)

rs376910645 
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)

rs374094065 
NM_000053.4(ATP7B):c.3243+1G>A

rs748819198 
NM_000053.4(ATP7B):c.3243+2T>C

rs1593671769 
NM_000053.4(ATP7B):c.32442A>G

rs786204584 
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)

rs1286080173 
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)

rs753250853 
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)

rs778825095 
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)

rs761632029 
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs)

rs1566468816 
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)

rs786204483 
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs)

rs1566468784 
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)

rs560952220 
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)

rs541208827 
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)

rs775541743 
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)

rs774221179 
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)

rs1555285830 
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)

rs778749563 
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)

rs1213481140 
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)

rs1566462533 
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)

rs1555285380 
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)

rs755554442 
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)

rs377297166 
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)

rs749085322 
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)

rs1555285311 
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)

rs756029120 
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)

rs1057516479 
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)

rs748924063 
NM_000053.4(ATP7B):c.3556+1G>A

rs184388696 
NM_000053.4(ATP7B):c.3556+1G>T

rs184388696 
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)

rs786204547 
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)

rs786204658 
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)

rs776280797 
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.3662G>A (p.Gly1221Glu)

rs1486594906 
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)

rs886042519 
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)

rs200911496 
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)


NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Thr1232_Gln1233insLeuValHisTer)


NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)

rs568009639 
NM_000053.4(ATP7B):c.37001G>A

rs1555284021 
NM_000053.4(ATP7B):c.3741_3742insCA (p.Lys1248fs)

rs1593646131 
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)

rs769484789 
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)

rs1555283916 
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs)

rs1057516740 
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs)

rs1555283900 
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)

rs758355520 
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)

rs199821556 
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly)

rs1593645393 
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)

rs1057517384 
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)

rs749472361 
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)

rs1057516227 
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs)

rs1057516228 
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)

rs1566441447 
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)

rs1131691741 
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)


NM_000053.4(ATP7B):c.399del (p.Trp133fs)

rs1345848733 
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)

rs750530407 
NM_000053.4(ATP7B):c.40222A>C

rs1555282816 
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)

rs587783318 
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)

rs193922110 
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)

rs776848753 
NM_000053.4(ATP7B):c.41251G>C


NM_000053.4(ATP7B):c.41252A>G

rs1555282347 
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)

rs1555282316 
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)

rs189601972 
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)

rs1057517191 
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)

rs1555282191 
NM_000053.4(ATP7B):c.51+4A>T

rs369488210 
NM_000053.4(ATP7B):c.521G>T

rs1057517351 
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)

rs558037268 
NM_000053.4(ATP7B):c.525del (p.Val176fs)


NM_000053.4(ATP7B):c.532_535del (p.Leu178fs)


NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)

rs1412593296 
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)

rs1555296472 
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs)

rs1023530194 
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter)

rs1555296414 
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)

rs786204570 
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)

rs1555296356 
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)

rs121907999 
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)

rs911589273 