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

rs1021025464 
NM_000053.4(ATP7B):c.*15C>T

rs73498144 
NM_000053.4(ATP7B):c.*16G>A

rs193922100 
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)

rs201254466 
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)

rs1176709391 
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=)

rs764551529 
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)

rs1801243 
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)

rs143556945 
NM_000053.4(ATP7B):c.1285+5G>T

rs370579582 
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)

rs1801244 
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)

rs778675259 
NM_000053.4(ATP7B):c.1543+13C>T

rs200171850 
NM_000053.4(ATP7B):c.1543+14G>A

rs770362811 
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)

rs138427376 
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)

rs145798966 
NM_000053.4(ATP7B):c.1707+2dup


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

rs137853280 
NM_000053.4(ATP7B):c.17085T>G

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

rs1057516893 
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)

rs753962912 
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)

rs780327716 
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)

rs587783299 
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=)

rs587783300 
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)

rs186924074 
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.19474C>T

rs74904335 
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)

rs372436901 
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)

rs146303208 
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.2002A>G (p.Met668Val)

rs587783301 
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.21228T>G

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

rs1555291285 
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)

rs61733684 
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)

rs372979339 
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)

rs28942075 
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)

rs1555291147 
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)

rs193922103 
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)

rs398123136 
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)

rs137853284 
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)

rs28942074 
NM_000053.4(ATP7B):c.2355+13T>G

rs139211339 
NM_000053.4(ATP7B):c.2355+4A>G

rs776572343 
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)

rs751710854 
NM_000053.4(ATP7B):c.244811G>A

rs200450017 
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)

rs200996053 
NM_000053.4(ATP7B):c.2575+1G>A

rs766149114 
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)

rs191312027 
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.27312A>G

rs367956522 
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)

rs121907993 
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)

rs534960245 
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)

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

rs1057516643 
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.2855G>A (p.Arg952Lys)

rs732774 
NM_000053.4(ATP7B):c.2865+1G>A

rs587783306 
NM_000053.4(ATP7B):c.286613G>C

rs7325983 
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)

rs774028495 
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)

rs193922104 
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)

rs116587608 
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)

rs41292782 
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)

rs1801246 
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)

rs746358240 
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.3009G>A (p.Ala1003=)

rs1801247 
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=)

rs74085888 
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)

rs1801248 
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)

rs371840514 
NM_000053.4(ATP7B):c.3060+16G>T

rs76163470 
NM_000053.4(ATP7B):c.306112T>A

rs1045194246 
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)

rs74085882 
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)

rs200324179 
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)

rs746485916 
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)

rs753236073 
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)

rs587783309 
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)

rs374094065 
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)

rs76151636 
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.3305T>C (p.Ile1102Thr)

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

rs541208827 
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)

rs372456815 
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)

rs61733679 
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)

rs370947152 
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr)

rs187200982 
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)

rs373081328 
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)

rs1801249 
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)

rs778749563 
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)

rs1555285380 
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)

rs377297166 
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)

rs587783314 
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)

rs756029120 
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn)

rs769655497 
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)

rs587783315 
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)

rs786204547 
NM_000053.4(ATP7B):c.35576C>T

rs140708492 
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)

rs11840224 
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)

rs7334118 
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)


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.3664del (p.Asp1222fs)

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

rs200911496 
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)

rs568009639 
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)

rs375007352 
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)

rs200597654 
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)

rs199821556 
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)

rs148399850 
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)

rs1057517384 
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)

rs114771537 
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)

rs749472361 
NM_000053.4(ATP7B):c.3903+6C>T

rs2282057 
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)

rs1131691741 
NM_000053.4(ATP7B):c.402219C>T

rs369736734 
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)

rs193922110 
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)

rs181250704 
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)

rs368801566 
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)

rs189601972 
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)

rs546721020 
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)

rs60986317 
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)

rs116091486 
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)

rs73202048 
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)

rs200606656 
NM_000053.4(ATP7B):c.51+4A>T

rs369488210 
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)

rs558037268 
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)

rs61733680 
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)

rs786204570 
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)

rs121907999 
Single allele

