Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51937350_51937355delinsTCT | CA2499222484 | ATP7B | c.*1592_*1597delinsAGA (n.*1592_*1597delinsAGA) c.*2686_*2691delinsAGA (n.*2686_*2691delinsAGA) c.3321_3326delinsAGA (p.Lys1108_Arg1109delinsGlu) c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) c.3609_3614delinsAGA (p.Lys1204_Arg1205delinsGlu) c.3690_3695delinsAGA (p.Lys1231_Arg1232delinsGlu) n.1265_1270delinsAGA c.3708_3713delinsAGA (p.Lys1237_Arg1238delinsGlu) n.4081_4086delinsAGA n.808_813delinsAGA c.2877_2882delinsAGA (p.Lys960_Arg961delinsGlu) c.2652_2657delinsAGA (p.Lys885_Arg886delinsGlu) c.3747_3752delinsAGA (p.Lys1250_Arg1251delinsGlu) c.1720_1725delinsAGA c.*1043_*1048delinsAGA (n.*1043_*1048delinsAGA) n.4686_4691delinsAGA n.3287_3292delinsAGA c.3798_3803delinsAGA (p.Lys1267_Arg1268delinsGlu) c.3846_3851delinsAGA (p.Lys1283_Arg1284delinsGlu) c.3906_3911delinsAGA (p.Lys1303_Arg1304delinsGlu) c.3456_3461delinsAGA (p.Lys1153_Arg1154delinsGlu) c.1758_1763delinsAGA (p.Lys587_Arg588delinsGlu) c.1575_1580delinsAGA (p.Lys526_Arg527delinsGlu) c.3807_3812delinsAGA (p.Lys1270_Arg1271delinsGlu) c.3759_3764delinsAGA (p.Lys1254_Arg1255delinsGlu) c.3528_3533delinsAGA (p.Lys1177_Arg1178delinsGlu) c.3429_3434delinsAGA (p.Lys1144_Arg1145delinsGlu) c.2610_2615delinsAGA (p.Lys871_Arg872delinsGlu) n.4161_4166delinsAGA | ClinVar dbSNP |
13 | g.51937354_51937369del | CA2623119065 | ATP7B | c.*1580_*1595del (n.*1580_*1595del) c.*2674_*2689del (n.*2674_*2689del) c.3309_3324del (p.Ser1103ArgfsTer15) c.3930_3945del (p.Ser1310ArgfsTer15) c.3597_3612del (p.Ser1199ArgfsTer15) c.3678_3693del (p.Ser1226ArgfsTer15) n.1253_1268del c.3696_3711del (p.Ser1232ArgfsTer15) n.4069_4084del n.796_811del c.2865_2880del (p.Ser955ArgfsTer15) c.2640_2655del (p.Ser880ArgfsTer15) c.3735_3750del (p.Ser1245ArgfsTer15) c.1708_1723del c.*1031_*1046del (n.*1031_*1046del) n.4674_4689del n.3275_3290del c.3786_3801del (p.Ser1262ArgfsTer15) c.3834_3849del (p.Ser1278ArgfsTer15) c.3894_3909del (p.Ser1298ArgfsTer15) c.3444_3459del (p.Ser1148ArgfsTer15) c.1746_1761del (p.Ser582ArgfsTer15) c.1563_1578del (p.Ser521ArgfsTer15) c.3795_3810del (p.Ser1265ArgfsTer15) c.3747_3762del (p.Ser1249ArgfsTer15) c.3516_3531del (p.Ser1172ArgfsTer15) c.3417_3432del (p.Ser1139ArgfsTer15) c.2598_2613del (p.Ser866ArgfsTer15) n.4149_4164del | gnomAD v4 |
13 | g.51937353_51937355delinsTTG | CA2091553487 | ATP7B | c.*1592_*1594delinsCAA (n.*1592_*1594delinsCAA) c.*2686_*2688delinsCAA (n.*2686_*2688delinsCAA) c.3321_3323delinsCAA (p.Ser1107=) c.3942_3944delinsCAA (p.Ser1314=) c.3609_3611delinsCAA (p.Ser1203=) c.3690_3692delinsCAA (p.Ser1230=) n.1265_1267delinsCAA c.3708_3710delinsCAA (p.Ser1236=) n.4081_4083delinsCAA n.808_810delinsCAA c.2877_2879delinsCAA (p.Ser959=) c.2652_2654delinsCAA (p.Ser884=) c.3747_3749delinsCAA (p.Ser1249=) c.1720_1722delinsCAA c.*1043_*1045delinsCAA (n.*1043_*1045delinsCAA) n.4686_4688delinsCAA n.3287_3289delinsCAA c.3798_3800delinsCAA (p.Ser1266=) c.3846_3848delinsCAA (p.Ser1282=) c.3906_3908delinsCAA (p.Ser1302=) c.3456_3458delinsCAA (p.Ser1152=) c.1758_1760delinsCAA (p.Ser586=) c.1575_1577delinsCAA (p.Ser525=) c.3807_3809delinsCAA (p.Ser1269=) c.3759_3761delinsCAA (p.Ser1253=) c.3528_3530delinsCAA (p.Ser1176=) c.3429_3431delinsCAA (p.Ser1143=) c.2610_2612delinsCAA (p.Ser870=) n.4161_4163delinsCAA | |
13 | g.51937354T>A | CA388021137 | ATP7B | c.*1593A>T (n.*1593A>T) c.*2687A>T (n.*2687A>T) c.3322A>T (p.Lys1108Ter) c.3943A>T (p.Lys1315Ter) c.3610A>T (p.Lys1204Ter) c.3691A>T (p.Lys1231Ter) n.1266A>T c.3709A>T (p.Lys1237Ter) n.4082A>T n.809A>T c.2878A>T (p.Lys960Ter) c.2653A>T (p.Lys885Ter) c.3748A>T (p.Lys1250Ter) c.1721A>T c.*1044A>T (n.*1044A>T) n.4687A>T n.3288A>T c.3799A>T (p.Lys1267Ter) c.3847A>T (p.Lys1283Ter) c.3907A>T (p.Lys1303Ter) c.3457A>T (p.Lys1153Ter) c.1759A>T (p.Lys587Ter) c.1576A>T (p.Lys526Ter) c.3808A>T (p.Lys1270Ter) c.3760A>T (p.Lys1254Ter) c.3529A>T (p.Lys1177Ter) c.3430A>T (p.Lys1144Ter) c.2611A>T (p.Lys871Ter) n.4162A>T | |
13 | g.51937354T>C | CA388021139 | ATP7B | c.*1593A>G (n.*1593A>G) c.*2687A>G (n.*2687A>G) c.3322A>G (p.Lys1108Glu) c.3943A>G (p.Lys1315Glu) c.3610A>G (p.Lys1204Glu) c.3691A>G (p.Lys1231Glu) n.1266A>G c.3709A>G (p.Lys1237Glu) n.4082A>G n.809A>G c.2878A>G (p.Lys960Glu) c.2653A>G (p.Lys885Glu) c.3748A>G (p.Lys1250Glu) c.1721A>G c.*1044A>G (n.*1044A>G) n.4687A>G n.3288A>G c.3799A>G (p.Lys1267Glu) c.3847A>G (p.Lys1283Glu) c.3907A>G (p.Lys1303Glu) c.3457A>G (p.Lys1153Glu) c.1759A>G (p.Lys587Glu) c.1576A>G (p.Lys526Glu) c.3808A>G (p.Lys1270Glu) c.3760A>G (p.Lys1254Glu) c.3529A>G (p.Lys1177Glu) c.3430A>G (p.Lys1144Glu) c.2611A>G (p.Lys871Glu) n.4162A>G | |
13 | g.51937354T>G | CA388021135 | ATP7B | c.*1593A>C (n.*1593A>C) c.*2687A>C (n.*2687A>C) c.3322A>C (p.Lys1108Gln) c.3943A>C (p.Lys1315Gln) c.3610A>C (p.Lys1204Gln) c.3691A>C (p.Lys1231Gln) n.1266A>C c.3709A>C (p.Lys1237Gln) n.4082A>C n.809A>C c.2878A>C (p.Lys960Gln) c.2653A>C (p.Lys885Gln) c.3748A>C (p.Lys1250Gln) c.1721A>C c.*1044A>C (n.*1044A>C) n.4687A>C n.3288A>C c.3799A>C (p.Lys1267Gln) c.3847A>C (p.Lys1283Gln) c.3907A>C (p.Lys1303Gln) c.3457A>C (p.Lys1153Gln) c.1759A>C (p.Lys587Gln) c.1576A>C (p.Lys526Gln) c.3808A>C (p.Lys1270Gln) c.3760A>C (p.Lys1254Gln) c.3529A>C (p.Lys1177Gln) c.3430A>C (p.Lys1144Gln) c.2611A>C (p.Lys871Gln) n.4162A>C | |
13 | g.51937354_51937355del | CA16041662 | ATP7B | c.*1592_*1593del (n.*1592_*1593del) c.*2686_*2687del (n.*2686_*2687del) c.3321_3322del (p.Lys1108GlufsTer17) c.3942_3943del (p.Lys1315GlufsTer17) c.3609_3610del (p.Lys1204GlufsTer17) c.3690_3691del (p.Lys1231GlufsTer17) n.1265_1266del c.3708_3709del (p.Lys1237GlufsTer17) n.4081_4082del n.808_809del c.2877_2878del (p.Lys960GlufsTer17) c.2652_2653del (p.Lys885GlufsTer17) c.3747_3748del (p.Lys1250GlufsTer17) c.1720_1721del c.*1043_*1044del (n.*1043_*1044del) n.4686_4687del n.3287_3288del c.3798_3799del (p.Lys1267GlufsTer17) c.3846_3847del (p.Lys1283GlufsTer17) c.3906_3907del (p.Lys1303GlufsTer17) c.3456_3457del (p.Lys1153GlufsTer17) c.1758_1759del (p.Lys587GlufsTer17) c.1575_1576del (p.Lys526GlufsTer17) c.3807_3808del (p.Lys1270GlufsTer17) c.3759_3760del (p.Lys1254GlufsTer17) c.3528_3529del (p.Lys1177GlufsTer17) c.3429_3430del (p.Lys1144GlufsTer17) c.2610_2611del (p.Lys871GlufsTer17) n.4161_4162del | ClinVar dbSNP gnomAD v4 |
13 | g.51937355G>A | CA484024240 | ATP7B | c.*1592C>T (n.*1592C>T) c.*2686C>T (n.*2686C>T) c.3321C>T (p.Ser1107=) c.3942C>T (p.Ser1314=) c.3609C>T (p.Ser1203=) c.3690C>T (p.Ser1230=) n.1265C>T c.3708C>T (p.Ser1236=) n.4081C>T n.808C>T c.2877C>T (p.Ser959=) c.2652C>T (p.Ser884=) c.3747C>T (p.Ser1249=) c.1720C>T c.*1043C>T (n.*1043C>T) n.4686C>T n.3287C>T c.3798C>T (p.Ser1266=) c.3846C>T (p.Ser1282=) c.3906C>T (p.Ser1302=) c.3456C>T (p.Ser1152=) c.1758C>T (p.Ser586=) c.1575C>T (p.Ser525=) c.3807C>T (p.Ser1269=) c.3759C>T (p.Ser1253=) c.3528C>T (p.Ser1176=) c.3429C>T (p.Ser1143=) c.2610C>T (p.Ser870=) n.4161C>T | |
13 | g.51937355G>C | CA484024241 | ATP7B | c.*1592C>G (n.*1592C>G) c.*2686C>G (n.*2686C>G) c.3321C>G (p.Ser1107=) c.3942C>G (p.Ser1314=) c.3609C>G (p.Ser1203=) c.3690C>G (p.Ser1230=) n.1265C>G c.3708C>G (p.Ser1236=) n.4081C>G n.808C>G c.2877C>G (p.Ser959=) c.2652C>G (p.Ser884=) c.3747C>G (p.Ser1249=) c.1720C>G c.*1043C>G (n.*1043C>G) n.4686C>G n.3287C>G c.3798C>G (p.Ser1266=) c.3846C>G (p.Ser1282=) c.3906C>G (p.Ser1302=) c.3456C>G (p.Ser1152=) c.1758C>G (p.Ser586=) c.1575C>G (p.Ser525=) c.3807C>G (p.Ser1269=) c.3759C>G (p.Ser1253=) c.3528C>G (p.Ser1176=) c.3429C>G (p.Ser1143=) c.2610C>G (p.Ser870=) n.4161C>G | |
13 | g.51937355G>T | CA484024242 | ATP7B | c.*1592C>A (n.*1592C>A) c.*2686C>A (n.*2686C>A) c.3321C>A (p.Ser1107=) c.3942C>A (p.Ser1314=) c.3609C>A (p.Ser1203=) c.3690C>A (p.Ser1230=) n.1265C>A c.3708C>A (p.Ser1236=) n.4081C>A n.808C>A c.2877C>A (p.Ser959=) c.2652C>A (p.Ser884=) c.3747C>A (p.Ser1249=) c.1720C>A c.*1043C>A (n.*1043C>A) n.4686C>A n.3287C>A c.3798C>A (p.Ser1266=) c.3846C>A (p.Ser1282=) c.3906C>A (p.Ser1302=) c.3456C>A (p.Ser1152=) c.1758C>A (p.Ser586=) c.1575C>A (p.Ser525=) c.3807C>A (p.Ser1269=) c.3759C>A (p.Ser1253=) c.3528C>A (p.Ser1176=) c.3429C>A (p.Ser1143=) c.2610C>A (p.Ser870=) n.4161C>A | |
13 | g.51937356G>A | CA388021142 | ATP7B | c.*1591C>T (n.*1591C>T) c.*2685C>T (n.*2685C>T) c.3320C>T (p.Ser1107Phe) c.3941C>T (p.Ser1314Phe) c.3608C>T (p.Ser1203Phe) c.3689C>T (p.Ser1230Phe) n.1264C>T c.3707C>T (p.Ser1236Phe) n.4080C>T n.807C>T c.2876C>T (p.Ser959Phe) c.2651C>T (p.Ser884Phe) c.3746C>T (p.Ser1249Phe) c.1719C>T c.*1042C>T (n.*1042C>T) n.4685C>T n.3286C>T c.3797C>T (p.Ser1266Phe) c.3845C>T (p.Ser1282Phe) c.3905C>T (p.Ser1302Phe) c.3455C>T (p.Ser1152Phe) c.1757C>T (p.Ser586Phe) c.1574C>T (p.Ser525Phe) c.3806C>T (p.Ser1269Phe) c.3758C>T (p.Ser1253Phe) c.3527C>T (p.Ser1176Phe) c.3428C>T (p.Ser1143Phe) c.2609C>T (p.Ser870Phe) n.4160C>T | dbSNP |
13 | g.51937356G>C | CA388021140 | ATP7B | c.*1591C>G (n.*1591C>G) c.*2685C>G (n.*2685C>G) c.3320C>G (p.Ser1107Cys) c.3941C>G (p.Ser1314Cys) c.3608C>G (p.Ser1203Cys) c.3689C>G (p.Ser1230Cys) n.1264C>G c.3707C>G (p.Ser1236Cys) n.4080C>G n.807C>G c.2876C>G (p.Ser959Cys) c.2651C>G (p.Ser884Cys) c.3746C>G (p.Ser1249Cys) c.1719C>G c.*1042C>G (n.*1042C>G) n.4685C>G n.3286C>G c.3797C>G (p.Ser1266Cys) c.3845C>G (p.Ser1282Cys) c.3905C>G (p.Ser1302Cys) c.3455C>G (p.Ser1152Cys) c.1757C>G (p.Ser586Cys) c.1574C>G (p.Ser525Cys) c.3806C>G (p.Ser1269Cys) c.3758C>G (p.Ser1253Cys) c.3527C>G (p.Ser1176Cys) c.3428C>G (p.Ser1143Cys) c.2609C>G (p.Ser870Cys) n.4160C>G | |
13 | g.51937356G= | CA2091553495 | ATP7B | c.*1591C= (n.*1591C=) c.*2685C= (n.*2685C=) c.3320C= (p.Ser1107=) c.3941C= (p.Ser1314=) c.3608C= (p.Ser1203=) c.3689C= (p.Ser1230=) n.1264C= c.3707C= (p.Ser1236=) n.4080C= n.807C= c.2876C= (p.Ser959=) c.2651C= (p.Ser884=) c.3746C= (p.Ser1249=) c.1719C= c.*1042C= (n.*1042C=) n.4685C= n.3286C= c.3797C= (p.Ser1266=) c.3845C= (p.Ser1282=) c.3905C= (p.Ser1302=) c.3455C= (p.Ser1152=) c.1757C= (p.Ser586=) c.1574C= (p.Ser525=) c.3806C= (p.Ser1269=) c.3758C= (p.Ser1253=) c.3527C= (p.Ser1176=) c.3428C= (p.Ser1143=) c.2609C= (p.Ser870=) n.4160C= | |
13 | g.51937356G>T | CA388021143 | ATP7B | c.*1591C>A (n.*1591C>A) c.*2685C>A (n.*2685C>A) c.3320C>A (p.Ser1107Tyr) c.3941C>A (p.Ser1314Tyr) c.3608C>A (p.Ser1203Tyr) c.3689C>A (p.Ser1230Tyr) n.1264C>A c.3707C>A (p.Ser1236Tyr) n.4080C>A n.807C>A c.2876C>A (p.Ser959Tyr) c.2651C>A (p.Ser884Tyr) c.3746C>A (p.Ser1249Tyr) c.1719C>A c.*1042C>A (n.*1042C>A) n.4685C>A n.3286C>A c.3797C>A (p.Ser1266Tyr) c.3845C>A (p.Ser1282Tyr) c.3905C>A (p.Ser1302Tyr) c.3455C>A (p.Ser1152Tyr) c.1757C>A (p.Ser586Tyr) c.1574C>A (p.Ser525Tyr) c.3806C>A (p.Ser1269Tyr) c.3758C>A (p.Ser1253Tyr) c.3527C>A (p.Ser1176Tyr) c.3428C>A (p.Ser1143Tyr) c.2609C>A (p.Ser870Tyr) n.4160C>A | |
13 | g.51937357A>C | CA388021145 | ATP7B | c.*1590T>G (n.*1590T>G) c.*2684T>G (n.*2684T>G) c.3319T>G (p.Ser1107Ala) c.3940T>G (p.Ser1314Ala) c.3607T>G (p.Ser1203Ala) c.3688T>G (p.Ser1230Ala) n.1263T>G c.3706T>G (p.Ser1236Ala) n.4079T>G n.806T>G c.2875T>G (p.Ser959Ala) c.2650T>G (p.Ser884Ala) c.3745T>G (p.Ser1249Ala) c.1718T>G c.*1041T>G (n.*1041T>G) n.4684T>G n.3285T>G c.3796T>G (p.Ser1266Ala) c.3844T>G (p.Ser1282Ala) c.3904T>G (p.Ser1302Ala) c.3454T>G (p.Ser1152Ala) c.1756T>G (p.Ser586Ala) c.1573T>G (p.Ser525Ala) c.3805T>G (p.Ser1269Ala) c.3757T>G (p.Ser1253Ala) c.3526T>G (p.Ser1176Ala) c.3427T>G (p.Ser1143Ala) c.2608T>G (p.Ser870Ala) n.4159T>G | |
13 | g.51937357A>G | CA388021147 | ATP7B | c.*1590T>C (n.*1590T>C) c.*2684T>C (n.*2684T>C) c.3319T>C (p.Ser1107Pro) c.3940T>C (p.Ser1314Pro) c.3607T>C (p.Ser1203Pro) c.3688T>C (p.Ser1230Pro) n.1263T>C c.3706T>C (p.Ser1236Pro) n.4079T>C n.806T>C c.2875T>C (p.Ser959Pro) c.2650T>C (p.Ser884Pro) c.3745T>C (p.Ser1249Pro) c.1718T>C c.*1041T>C (n.*1041T>C) n.4684T>C n.3285T>C c.3796T>C (p.Ser1266Pro) c.3844T>C (p.Ser1282Pro) c.3904T>C (p.Ser1302Pro) c.3454T>C (p.Ser1152Pro) c.1756T>C (p.Ser586Pro) c.1573T>C (p.Ser525Pro) c.3805T>C (p.Ser1269Pro) c.3757T>C (p.Ser1253Pro) c.3526T>C (p.Ser1176Pro) c.3427T>C (p.Ser1143Pro) c.2608T>C (p.Ser870Pro) n.4159T>C | |
13 | g.51937357A>T | CA388021149 | ATP7B | c.*1590T>A (n.*1590T>A) c.*2684T>A (n.*2684T>A) c.3319T>A (p.Ser1107Thr) c.3940T>A (p.Ser1314Thr) c.3607T>A (p.Ser1203Thr) c.3688T>A (p.Ser1230Thr) n.1263T>A c.3706T>A (p.Ser1236Thr) n.4079T>A n.806T>A c.2875T>A (p.Ser959Thr) c.2650T>A (p.Ser884Thr) c.3745T>A (p.Ser1249Thr) c.1718T>A c.*1041T>A (n.*1041T>A) n.4684T>A n.3285T>A c.3796T>A (p.Ser1266Thr) c.3844T>A (p.Ser1282Thr) c.3904T>A (p.Ser1302Thr) c.3454T>A (p.Ser1152Thr) c.1756T>A (p.Ser586Thr) c.1573T>A (p.Ser525Thr) c.3805T>A (p.Ser1269Thr) c.3757T>A (p.Ser1253Thr) c.3526T>A (p.Ser1176Thr) c.3427T>A (p.Ser1143Thr) c.2608T>A (p.Ser870Thr) n.4159T>A | |
13 | g.51937358A= | CA2091553499 | ATP7B | c.*1589T= (n.*1589T=) c.*2683T= (n.*2683T=) c.3318T= (p.Leu1106=) c.3939T= (p.Leu1313=) c.3606T= (p.Leu1202=) c.3687T= (p.Leu1229=) n.1262T= c.3705T= (p.Leu1235=) n.4078T= n.805T= c.2874T= (p.Leu958=) c.2649T= (p.Leu883=) c.3744T= (p.Leu1248=) c.1717T= c.*1040T= (n.*1040T=) n.4683T= n.3284T= c.3795T= (p.Leu1265=) c.3843T= (p.Leu1281=) c.3903T= (p.Leu1301=) c.3453T= (p.Leu1151=) c.1755T= (p.Leu585=) c.1572T= (p.Leu524=) c.3804T= (p.Leu1268=) c.3756T= (p.Leu1252=) c.3525T= (p.Leu1175=) c.3426T= (p.Leu1142=) c.2607T= (p.Leu869=) n.4158T= | |
13 | g.51937358A>C | CA484024243 | ATP7B | c.*1589T>G (n.*1589T>G) c.*2683T>G (n.*2683T>G) c.3318T>G (p.Leu1106=) c.3939T>G (p.Leu1313=) c.3606T>G (p.Leu1202=) c.3687T>G (p.Leu1229=) n.1262T>G c.3705T>G (p.Leu1235=) n.4078T>G n.805T>G c.2874T>G (p.Leu958=) c.2649T>G (p.Leu883=) c.3744T>G (p.Leu1248=) c.1717T>G c.*1040T>G (n.*1040T>G) n.4683T>G n.3284T>G c.3795T>G (p.Leu1265=) c.3843T>G (p.Leu1281=) c.3903T>G (p.Leu1301=) c.3453T>G (p.Leu1151=) c.1755T>G (p.Leu585=) c.1572T>G (p.Leu524=) c.3804T>G (p.Leu1268=) c.3756T>G (p.Leu1252=) c.3525T>G (p.Leu1175=) c.3426T>G (p.Leu1142=) c.2607T>G (p.Leu869=) n.4158T>G | gnomAD v4 |
13 | g.51937358A>G | CA250073397 | ATP7B | c.*1589T>C (n.*1589T>C) c.*2683T>C (n.*2683T>C) c.3318T>C (p.Leu1106=) c.3939T>C (p.Leu1313=) c.3606T>C (p.Leu1202=) c.3687T>C (p.Leu1229=) n.1262T>C c.3705T>C (p.Leu1235=) n.4078T>C n.805T>C c.2874T>C (p.Leu958=) c.2649T>C (p.Leu883=) c.3744T>C (p.Leu1248=) c.1717T>C c.*1040T>C (n.*1040T>C) n.4683T>C n.3284T>C c.3795T>C (p.Leu1265=) c.3843T>C (p.Leu1281=) c.3903T>C (p.Leu1301=) c.3453T>C (p.Leu1151=) c.1755T>C (p.Leu585=) c.1572T>C (p.Leu524=) c.3804T>C (p.Leu1268=) c.3756T>C (p.Leu1252=) c.3525T>C (p.Leu1175=) c.3426T>C (p.Leu1142=) c.2607T>C (p.Leu869=) n.4158T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937358A>T | CA484024244 | ATP7B | c.*1589T>A (n.*1589T>A) c.*2683T>A (n.*2683T>A) c.3318T>A (p.Leu1106=) c.3939T>A (p.Leu1313=) c.3606T>A (p.Leu1202=) c.3687T>A (p.Leu1229=) n.1262T>A c.3705T>A (p.Leu1235=) n.4078T>A n.805T>A c.2874T>A (p.Leu958=) c.2649T>A (p.Leu883=) c.3744T>A (p.Leu1248=) c.1717T>A c.*1040T>A (n.*1040T>A) n.4683T>A n.3284T>A c.3795T>A (p.Leu1265=) c.3843T>A (p.Leu1281=) c.3903T>A (p.Leu1301=) c.3453T>A (p.Leu1151=) c.1755T>A (p.Leu585=) c.1572T>A (p.Leu524=) c.3804T>A (p.Leu1268=) c.3756T>A (p.Leu1252=) c.3525T>A (p.Leu1175=) c.3426T>A (p.Leu1142=) c.2607T>A (p.Leu869=) n.4158T>A | |
13 | g.51937359A>C | CA388021150 | ATP7B | c.*1588T>G (n.*1588T>G) c.*2682T>G (n.*2682T>G) c.3317T>G (p.Leu1106Arg) c.3938T>G (p.Leu1313Arg) c.3605T>G (p.Leu1202Arg) c.3686T>G (p.Leu1229Arg) n.1261T>G c.3704T>G (p.Leu1235Arg) n.4077T>G n.804T>G c.2873T>G (p.Leu958Arg) c.2648T>G (p.Leu883Arg) c.3743T>G (p.Leu1248Arg) c.1716T>G c.*1039T>G (n.*1039T>G) n.4682T>G n.3283T>G c.3794T>G (p.Leu1265Arg) c.3842T>G (p.Leu1281Arg) c.3902T>G (p.Leu1301Arg) c.3452T>G (p.Leu1151Arg) c.1754T>G (p.Leu585Arg) c.1571T>G (p.Leu524Arg) c.3803T>G (p.Leu1268Arg) c.3755T>G (p.Leu1252Arg) c.3524T>G (p.Leu1175Arg) c.3425T>G (p.Leu1142Arg) c.2606T>G (p.Leu869Arg) n.4157T>G | gnomAD v4 |
13 | g.51937359A>G | CA388021152 | ATP7B | c.*1588T>C (n.*1588T>C) c.*2682T>C (n.*2682T>C) c.3317T>C (p.Leu1106Pro) c.3938T>C (p.Leu1313Pro) c.3605T>C (p.Leu1202Pro) c.3686T>C (p.Leu1229Pro) n.1261T>C c.3704T>C (p.Leu1235Pro) n.4077T>C n.804T>C c.2873T>C (p.Leu958Pro) c.2648T>C (p.Leu883Pro) c.3743T>C (p.Leu1248Pro) c.1716T>C c.*1039T>C (n.*1039T>C) n.4682T>C n.3283T>C c.3794T>C (p.Leu1265Pro) c.3842T>C (p.Leu1281Pro) c.3902T>C (p.Leu1301Pro) c.3452T>C (p.Leu1151Pro) c.1754T>C (p.Leu585Pro) c.1571T>C (p.Leu524Pro) c.3803T>C (p.Leu1268Pro) c.3755T>C (p.Leu1252Pro) c.3524T>C (p.Leu1175Pro) c.3425T>C (p.Leu1142Pro) c.2606T>C (p.Leu869Pro) n.4157T>C | gnomAD v4 |
13 | g.51937359A>T | CA388021154 | ATP7B | c.*1588T>A (n.*1588T>A) c.*2682T>A (n.*2682T>A) c.3317T>A (p.Leu1106His) c.3938T>A (p.Leu1313His) c.3605T>A (p.Leu1202His) c.3686T>A (p.Leu1229His) n.1261T>A c.3704T>A (p.Leu1235His) n.4077T>A n.804T>A c.2873T>A (p.Leu958His) c.2648T>A (p.Leu883His) c.3743T>A (p.Leu1248His) c.1716T>A c.*1039T>A (n.*1039T>A) n.4682T>A n.3283T>A c.3794T>A (p.Leu1265His) c.3842T>A (p.Leu1281His) c.3902T>A (p.Leu1301His) c.3452T>A (p.Leu1151His) c.1754T>A (p.Leu585His) c.1571T>A (p.Leu524His) c.3803T>A (p.Leu1268His) c.3755T>A (p.Leu1252His) c.3524T>A (p.Leu1175His) c.3425T>A (p.Leu1142His) c.2606T>A (p.Leu869His) n.4157T>A | |
13 | g.51937360G>A | CA388021156 | ATP7B | c.*1587C>T (n.*1587C>T) c.*2681C>T (n.*2681C>T) c.3316C>T (p.Leu1106Phe) c.3937C>T (p.Leu1313Phe) c.3604C>T (p.Leu1202Phe) c.3685C>T (p.Leu1229Phe) n.1260C>T c.3703C>T (p.Leu1235Phe) n.4076C>T n.803C>T c.2872C>T (p.Leu958Phe) c.2647C>T (p.Leu883Phe) c.3742C>T (p.Leu1248Phe) c.1715C>T c.*1038C>T (n.*1038C>T) n.4681C>T n.3282C>T c.3793C>T (p.Leu1265Phe) c.3841C>T (p.Leu1281Phe) c.3901C>T (p.Leu1301Phe) c.3451C>T (p.Leu1151Phe) c.1753C>T (p.Leu585Phe) c.1570C>T (p.Leu524Phe) c.3802C>T (p.Leu1268Phe) c.3754C>T (p.Leu1252Phe) c.3523C>T (p.Leu1175Phe) c.3424C>T (p.Leu1142Phe) c.2605C>T (p.Leu869Phe) n.4156C>T | |
13 | g.51937360G>C | CA388021157 | ATP7B | c.*1587C>G (n.*1587C>G) c.*2681C>G (n.*2681C>G) c.3316C>G (p.Leu1106Val) c.3937C>G (p.Leu1313Val) c.3604C>G (p.Leu1202Val) c.3685C>G (p.Leu1229Val) n.1260C>G c.3703C>G (p.Leu1235Val) n.4076C>G n.803C>G c.2872C>G (p.Leu958Val) c.2647C>G (p.Leu883Val) c.3742C>G (p.Leu1248Val) c.1715C>G c.*1038C>G (n.*1038C>G) n.4681C>G n.3282C>G c.3793C>G (p.Leu1265Val) c.3841C>G (p.Leu1281Val) c.3901C>G (p.Leu1301Val) c.3451C>G (p.Leu1151Val) c.1753C>G (p.Leu585Val) c.1570C>G (p.Leu524Val) c.3802C>G (p.Leu1268Val) c.3754C>G (p.Leu1252Val) c.3523C>G (p.Leu1175Val) c.3424C>G (p.Leu1142Val) c.2605C>G (p.Leu869Val) n.4156C>G | |
13 | g.51937360G>T | CA388021158 | ATP7B | c.*1587C>A (n.*1587C>A) c.*2681C>A (n.*2681C>A) c.3316C>A (p.Leu1106Ile) c.3937C>A (p.Leu1313Ile) c.3604C>A (p.Leu1202Ile) c.3685C>A (p.Leu1229Ile) n.1260C>A c.3703C>A (p.Leu1235Ile) n.4076C>A n.803C>A c.2872C>A (p.Leu958Ile) c.2647C>A (p.Leu883Ile) c.3742C>A (p.Leu1248Ile) c.1715C>A c.*1038C>A (n.*1038C>A) n.4681C>A n.3282C>A c.3793C>A (p.Leu1265Ile) c.3841C>A (p.Leu1281Ile) c.3901C>A (p.Leu1301Ile) c.3451C>A (p.Leu1151Ile) c.1753C>A (p.Leu585Ile) c.1570C>A (p.Leu524Ile) c.3802C>A (p.Leu1268Ile) c.3754C>A (p.Leu1252Ile) c.3523C>A (p.Leu1175Ile) c.3424C>A (p.Leu1142Ile) c.2605C>A (p.Leu869Ile) n.4156C>A | |
13 | g.51937361G>A | CA484024245 | ATP7B | c.*1586C>T (n.*1586C>T) c.*2680C>T (n.*2680C>T) c.3315C>T (p.His1105=) c.3936C>T (p.His1312=) c.3603C>T (p.His1201=) c.3684C>T (p.His1228=) n.1259C>T c.3702C>T (p.His1234=) n.4075C>T n.802C>T c.2871C>T (p.His957=) c.2646C>T (p.His882=) c.3741C>T (p.His1247=) c.1714C>T c.*1037C>T (n.*1037C>T) n.4680C>T n.3281C>T c.3792C>T (p.His1264=) c.3840C>T (p.His1280=) c.3900C>T (p.His1300=) c.3450C>T (p.His1150=) c.1752C>T (p.His584=) c.1569C>T (p.His523=) c.3801C>T (p.His1267=) c.3753C>T (p.His1251=) c.3522C>T (p.His1174=) c.3423C>T (p.His1141=) c.2604C>T (p.His868=) n.4155C>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937361G>C | CA388021160 | ATP7B | c.*1586C>G (n.*1586C>G) c.*2680C>G (n.*2680C>G) c.3315C>G (p.His1105Gln) c.3936C>G (p.His1312Gln) c.3603C>G (p.His1201Gln) c.3684C>G (p.His1228Gln) n.1259C>G c.3702C>G (p.His1234Gln) n.4075C>G n.802C>G c.2871C>G (p.His957Gln) c.2646C>G (p.His882Gln) c.3741C>G (p.His1247Gln) c.1714C>G c.*1037C>G (n.*1037C>G) n.4680C>G n.3281C>G c.3792C>G (p.His1264Gln) c.3840C>G (p.His1280Gln) c.3900C>G (p.His1300Gln) c.3450C>G (p.His1150Gln) c.1752C>G (p.His584Gln) c.1569C>G (p.His523Gln) c.3801C>G (p.His1267Gln) c.3753C>G (p.His1251Gln) c.3522C>G (p.His1174Gln) c.3423C>G (p.His1141Gln) c.2604C>G (p.His868Gln) n.4155C>G | gnomAD v4 |
13 | g.51937361G= | CA2091553504 | ATP7B | c.*1586C= (n.*1586C=) c.*2680C= (n.*2680C=) c.3315C= (p.His1105=) c.3936C= (p.His1312=) c.3603C= (p.His1201=) c.3684C= (p.His1228=) n.1259C= c.3702C= (p.His1234=) n.4075C= n.802C= c.2871C= (p.His957=) c.2646C= (p.His882=) c.3741C= (p.His1247=) c.1714C= c.*1037C= (n.*1037C=) n.4680C= n.3281C= c.3792C= (p.His1264=) c.3840C= (p.His1280=) c.3900C= (p.His1300=) c.3450C= (p.His1150=) c.1752C= (p.His584=) c.1569C= (p.His523=) c.3801C= (p.His1267=) c.3753C= (p.His1251=) c.3522C= (p.His1174=) c.3423C= (p.His1141=) c.2604C= (p.His868=) n.4155C= | |
13 | g.51937361G>T | CA388021161 | ATP7B | c.*1586C>A (n.*1586C>A) c.*2680C>A (n.*2680C>A) c.3315C>A (p.His1105Gln) c.3936C>A (p.His1312Gln) c.3603C>A (p.His1201Gln) c.3684C>A (p.His1228Gln) n.1259C>A c.3702C>A (p.His1234Gln) n.4075C>A n.802C>A c.2871C>A (p.His957Gln) c.2646C>A (p.His882Gln) c.3741C>A (p.His1247Gln) c.1714C>A c.*1037C>A (n.*1037C>A) n.4680C>A n.3281C>A c.3792C>A (p.His1264Gln) c.3840C>A (p.His1280Gln) c.3900C>A (p.His1300Gln) c.3450C>A (p.His1150Gln) c.1752C>A (p.His584Gln) c.1569C>A (p.His523Gln) c.3801C>A (p.His1267Gln) c.3753C>A (p.His1251Gln) c.3522C>A (p.His1174Gln) c.3423C>A (p.His1141Gln) c.2604C>A (p.His868Gln) n.4155C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937362_51937363del | CA2580087700 | ATP7B | c.*1585_*1586del (n.*1585_*1586del) c.*2679_*2680del (n.*2679_*2680del) c.3314_3315del (p.His1105ProfsTer20) c.3935_3936del (p.His1312ProfsTer20) c.3602_3603del (p.His1201ProfsTer20) c.3683_3684del (p.His1228ProfsTer20) n.1258_1259del c.3701_3702del (p.His1234ProfsTer20) n.4074_4075del n.801_802del c.2870_2871del (p.His957ProfsTer20) c.2645_2646del (p.His882ProfsTer20) c.3740_3741del (p.His1247ProfsTer20) c.1713_1714del c.*1036_*1037del (n.*1036_*1037del) n.4679_4680del n.3280_3281del c.3791_3792del (p.His1264ProfsTer20) c.3839_3840del (p.His1280ProfsTer20) c.3899_3900del (p.His1300ProfsTer20) c.3449_3450del (p.His1150ProfsTer20) c.1751_1752del (p.His584ProfsTer20) c.1568_1569del (p.His523ProfsTer20) c.3800_3801del (p.His1267ProfsTer20) c.3752_3753del (p.His1251ProfsTer20) c.3521_3522del (p.His1174ProfsTer20) c.3422_3423del (p.His1141ProfsTer20) c.2603_2604del (p.His868ProfsTer20) n.4154_4155del | ClinVar |
13 | g.51937362T>A | CA388021167 | ATP7B | c.*1585A>T (n.*1585A>T) c.*2679A>T (n.*2679A>T) c.3314A>T (p.His1105Leu) c.3935A>T (p.His1312Leu) c.3602A>T (p.His1201Leu) c.3683A>T (p.His1228Leu) n.1258A>T c.3701A>T (p.His1234Leu) n.4074A>T n.801A>T c.2870A>T (p.His957Leu) c.2645A>T (p.His882Leu) c.3740A>T (p.His1247Leu) c.1713A>T c.*1036A>T (n.*1036A>T) n.4679A>T n.3280A>T c.3791A>T (p.His1264Leu) c.3839A>T (p.His1280Leu) c.3899A>T (p.His1300Leu) c.3449A>T (p.His1150Leu) c.1751A>T (p.His584Leu) c.1568A>T (p.His523Leu) c.3800A>T (p.His1267Leu) c.3752A>T (p.His1251Leu) c.3521A>T (p.His1174Leu) c.3422A>T (p.His1141Leu) c.2603A>T (p.His868Leu) n.4154A>T | |
13 | g.51937362T>C | CA388021165 | ATP7B | c.*1585A>G (n.*1585A>G) c.*2679A>G (n.*2679A>G) c.3314A>G (p.His1105Arg) c.3935A>G (p.His1312Arg) c.3602A>G (p.His1201Arg) c.3683A>G (p.His1228Arg) n.1258A>G c.3701A>G (p.His1234Arg) n.4074A>G n.801A>G c.2870A>G (p.His957Arg) c.2645A>G (p.His882Arg) c.3740A>G (p.His1247Arg) c.1713A>G c.*1036A>G (n.*1036A>G) n.4679A>G n.3280A>G c.3791A>G (p.His1264Arg) c.3839A>G (p.His1280Arg) c.3899A>G (p.His1300Arg) c.3449A>G (p.His1150Arg) c.1751A>G (p.His584Arg) c.1568A>G (p.His523Arg) c.3800A>G (p.His1267Arg) c.3752A>G (p.His1251Arg) c.3521A>G (p.His1174Arg) c.3422A>G (p.His1141Arg) c.2603A>G (p.His868Arg) n.4154A>G | |
13 | g.51937362T>G | CA388021163 | ATP7B | c.*1585A>C (n.*1585A>C) c.*2679A>C (n.*2679A>C) c.3314A>C (p.His1105Pro) c.3935A>C (p.His1312Pro) c.3602A>C (p.His1201Pro) c.3683A>C (p.His1228Pro) n.1258A>C c.3701A>C (p.His1234Pro) n.4074A>C n.801A>C c.2870A>C (p.His957Pro) c.2645A>C (p.His882Pro) c.3740A>C (p.His1247Pro) c.1713A>C c.*1036A>C (n.*1036A>C) n.4679A>C n.3280A>C c.3791A>C (p.His1264Pro) c.3839A>C (p.His1280Pro) c.3899A>C (p.His1300Pro) c.3449A>C (p.His1150Pro) c.1751A>C (p.His584Pro) c.1568A>C (p.His523Pro) c.3800A>C (p.His1267Pro) c.3752A>C (p.His1251Pro) c.3521A>C (p.His1174Pro) c.3422A>C (p.His1141Pro) c.2603A>C (p.His868Pro) n.4154A>C | |
13 | g.51937363G>A | CA388021168 | ATP7B | c.*1584C>T (n.*1584C>T) c.*2678C>T (n.*2678C>T) c.3313C>T (p.His1105Tyr) c.3934C>T (p.His1312Tyr) c.3601C>T (p.His1201Tyr) c.3682C>T (p.His1228Tyr) n.1257C>T c.3700C>T (p.His1234Tyr) n.4073C>T n.800C>T c.2869C>T (p.His957Tyr) c.2644C>T (p.His882Tyr) c.3739C>T (p.His1247Tyr) c.1712C>T c.*1035C>T (n.*1035C>T) n.4678C>T n.3279C>T c.3790C>T (p.His1264Tyr) c.3838C>T (p.His1280Tyr) c.3898C>T (p.His1300Tyr) c.3448C>T (p.His1150Tyr) c.1750C>T (p.His584Tyr) c.1567C>T (p.His523Tyr) c.3799C>T (p.His1267Tyr) c.3751C>T (p.His1251Tyr) c.3520C>T (p.His1174Tyr) c.3421C>T (p.His1141Tyr) c.2602C>T (p.His868Tyr) n.4153C>T | |
13 | g.51937363G>C | CA388021170 | ATP7B | c.*1584C>G (n.*1584C>G) c.*2678C>G (n.*2678C>G) c.3313C>G (p.His1105Asp) c.3934C>G (p.His1312Asp) c.3601C>G (p.His1201Asp) c.3682C>G (p.His1228Asp) n.1257C>G c.3700C>G (p.His1234Asp) n.4073C>G n.800C>G c.2869C>G (p.His957Asp) c.2644C>G (p.His882Asp) c.3739C>G (p.His1247Asp) c.1712C>G c.*1035C>G (n.*1035C>G) n.4678C>G n.3279C>G c.3790C>G (p.His1264Asp) c.3838C>G (p.His1280Asp) c.3898C>G (p.His1300Asp) c.3448C>G (p.His1150Asp) c.1750C>G (p.His584Asp) c.1567C>G (p.His523Asp) c.3799C>G (p.His1267Asp) c.3751C>G (p.His1251Asp) c.3520C>G (p.His1174Asp) c.3421C>G (p.His1141Asp) c.2602C>G (p.His868Asp) n.4153C>G | |
13 | g.51937363G>T | CA388021171 | ATP7B | c.*1584C>A (n.*1584C>A) c.*2678C>A (n.*2678C>A) c.3313C>A (p.His1105Asn) c.3934C>A (p.His1312Asn) c.3601C>A (p.His1201Asn) c.3682C>A (p.His1228Asn) n.1257C>A c.3700C>A (p.His1234Asn) n.4073C>A n.800C>A c.2869C>A (p.His957Asn) c.2644C>A (p.His882Asn) c.3739C>A (p.His1247Asn) c.1712C>A c.*1035C>A (n.*1035C>A) n.4678C>A n.3279C>A c.3790C>A (p.His1264Asn) c.3838C>A (p.His1280Asn) c.3898C>A (p.His1300Asn) c.3448C>A (p.His1150Asn) c.1750C>A (p.His584Asn) c.1567C>A (p.His523Asn) c.3799C>A (p.His1267Asn) c.3751C>A (p.His1251Asn) c.3520C>A (p.His1174Asn) c.3421C>A (p.His1141Asn) c.2602C>A (p.His868Asn) n.4153C>A | gnomAD v4 |
13 | g.51937364A>C | CA388021172 | ATP7B | c.*1583T>G (n.*1583T>G) c.*2677T>G (n.*2677T>G) c.3312T>G (p.Ile1104Met) c.3933T>G (p.Ile1311Met) c.3600T>G (p.Ile1200Met) c.3681T>G (p.Ile1227Met) n.1256T>G c.3699T>G (p.Ile1233Met) n.4072T>G n.799T>G c.2868T>G (p.Ile956Met) c.2643T>G (p.Ile881Met) c.3738T>G (p.Ile1246Met) c.1711T>G c.*1034T>G (n.*1034T>G) n.4677T>G n.3278T>G c.3789T>G (p.Ile1263Met) c.3837T>G (p.Ile1279Met) c.3897T>G (p.Ile1299Met) c.3447T>G (p.Ile1149Met) c.1749T>G (p.Ile583Met) c.1566T>G (p.Ile522Met) c.3798T>G (p.Ile1266Met) c.3750T>G (p.Ile1250Met) c.3519T>G (p.Ile1173Met) c.3420T>G (p.Ile1140Met) c.2601T>G (p.Ile867Met) n.4152T>G | |
13 | g.51937364A>G | CA484024246 | ATP7B | c.*1583T>C (n.*1583T>C) c.*2677T>C (n.*2677T>C) c.3312T>C (p.Ile1104=) c.3933T>C (p.Ile1311=) c.3600T>C (p.Ile1200=) c.3681T>C (p.Ile1227=) n.1256T>C c.3699T>C (p.Ile1233=) n.4072T>C n.799T>C c.2868T>C (p.Ile956=) c.2643T>C (p.Ile881=) c.3738T>C (p.Ile1246=) c.1711T>C c.*1034T>C (n.*1034T>C) n.4677T>C n.3278T>C c.3789T>C (p.Ile1263=) c.3837T>C (p.Ile1279=) c.3897T>C (p.Ile1299=) c.3447T>C (p.Ile1149=) c.1749T>C (p.Ile583=) c.1566T>C (p.Ile522=) c.3798T>C (p.Ile1266=) c.3750T>C (p.Ile1250=) c.3519T>C (p.Ile1173=) c.3420T>C (p.Ile1140=) c.2601T>C (p.Ile867=) n.4152T>C | gnomAD v4 |
13 | g.51937364A>T | CA484024247 | ATP7B | c.*1583T>A (n.*1583T>A) c.*2677T>A (n.*2677T>A) c.3312T>A (p.Ile1104=) c.3933T>A (p.Ile1311=) c.3600T>A (p.Ile1200=) c.3681T>A (p.Ile1227=) n.1256T>A c.3699T>A (p.Ile1233=) n.4072T>A n.799T>A c.2868T>A (p.Ile956=) c.2643T>A (p.Ile881=) c.3738T>A (p.Ile1246=) c.1711T>A c.*1034T>A (n.*1034T>A) n.4677T>A n.3278T>A c.3789T>A (p.Ile1263=) c.3837T>A (p.Ile1279=) c.3897T>A (p.Ile1299=) c.3447T>A (p.Ile1149=) c.1749T>A (p.Ile583=) c.1566T>A (p.Ile522=) c.3798T>A (p.Ile1266=) c.3750T>A (p.Ile1250=) c.3519T>A (p.Ile1173=) c.3420T>A (p.Ile1140=) c.2601T>A (p.Ile867=) n.4152T>A | |
13 | g.51937365A>C | CA388021174 | ATP7B | c.*1582T>G (n.*1582T>G) c.*2676T>G (n.*2676T>G) c.3311T>G (p.Ile1104Ser) c.3932T>G (p.Ile1311Ser) c.3599T>G (p.Ile1200Ser) c.3680T>G (p.Ile1227Ser) n.1255T>G c.3698T>G (p.Ile1233Ser) n.4071T>G n.798T>G c.2867T>G (p.Ile956Ser) c.2642T>G (p.Ile881Ser) c.3737T>G (p.Ile1246Ser) c.1710T>G c.*1033T>G (n.*1033T>G) n.4676T>G n.3277T>G c.3788T>G (p.Ile1263Ser) c.3836T>G (p.Ile1279Ser) c.3896T>G (p.Ile1299Ser) c.3446T>G (p.Ile1149Ser) c.1748T>G (p.Ile583Ser) c.1565T>G (p.Ile522Ser) c.3797T>G (p.Ile1266Ser) c.3749T>G (p.Ile1250Ser) c.3518T>G (p.Ile1173Ser) c.3419T>G (p.Ile1140Ser) c.2600T>G (p.Ile867Ser) n.4151T>G | ClinVar dbSNP |
13 | g.51937365A>G | CA388021175 | ATP7B | c.*1582T>C (n.*1582T>C) c.*2676T>C (n.*2676T>C) c.3311T>C (p.Ile1104Thr) c.3932T>C (p.Ile1311Thr) c.3599T>C (p.Ile1200Thr) c.3680T>C (p.Ile1227Thr) n.1255T>C c.3698T>C (p.Ile1233Thr) n.4071T>C n.798T>C c.2867T>C (p.Ile956Thr) c.2642T>C (p.Ile881Thr) c.3737T>C (p.Ile1246Thr) c.1710T>C c.*1033T>C (n.*1033T>C) n.4676T>C n.3277T>C c.3788T>C (p.Ile1263Thr) c.3836T>C (p.Ile1279Thr) c.3896T>C (p.Ile1299Thr) c.3446T>C (p.Ile1149Thr) c.1748T>C (p.Ile583Thr) c.1565T>C (p.Ile522Thr) c.3797T>C (p.Ile1266Thr) c.3749T>C (p.Ile1250Thr) c.3518T>C (p.Ile1173Thr) c.3419T>C (p.Ile1140Thr) c.2600T>C (p.Ile867Thr) n.4151T>C | |
13 | g.51937365A>T | CA388021176 | ATP7B | c.*1582T>A (n.*1582T>A) c.*2676T>A (n.*2676T>A) c.3311T>A (p.Ile1104Asn) c.3932T>A (p.Ile1311Asn) c.3599T>A (p.Ile1200Asn) c.3680T>A (p.Ile1227Asn) n.1255T>A c.3698T>A (p.Ile1233Asn) n.4071T>A n.798T>A c.2867T>A (p.Ile956Asn) c.2642T>A (p.Ile881Asn) c.3737T>A (p.Ile1246Asn) c.1710T>A c.*1033T>A (n.*1033T>A) n.4676T>A n.3277T>A c.3788T>A (p.Ile1263Asn) c.3836T>A (p.Ile1279Asn) c.3896T>A (p.Ile1299Asn) c.3446T>A (p.Ile1149Asn) c.1748T>A (p.Ile583Asn) c.1565T>A (p.Ile522Asn) c.3797T>A (p.Ile1266Asn) c.3749T>A (p.Ile1250Asn) c.3518T>A (p.Ile1173Asn) c.3419T>A (p.Ile1140Asn) c.2600T>A (p.Ile867Asn) n.4151T>A | |
13 | g.51937366T>A | CA388021178 | ATP7B | c.*1581A>T (n.*1581A>T) c.*2675A>T (n.*2675A>T) c.3310A>T (p.Ile1104Phe) c.3931A>T (p.Ile1311Phe) c.3598A>T (p.Ile1200Phe) c.3679A>T (p.Ile1227Phe) n.1254A>T c.3697A>T (p.Ile1233Phe) n.4070A>T n.797A>T c.2866A>T (p.Ile956Phe) c.2641A>T (p.Ile881Phe) c.3736A>T (p.Ile1246Phe) c.1709A>T c.*1032A>T (n.*1032A>T) n.4675A>T n.3276A>T c.3787A>T (p.Ile1263Phe) c.3835A>T (p.Ile1279Phe) c.3895A>T (p.Ile1299Phe) c.3445A>T (p.Ile1149Phe) c.1747A>T (p.Ile583Phe) c.1564A>T (p.Ile522Phe) c.3796A>T (p.Ile1266Phe) c.3748A>T (p.Ile1250Phe) c.3517A>T (p.Ile1173Phe) c.3418A>T (p.Ile1140Phe) c.2599A>T (p.Ile867Phe) n.4150A>T | |
13 | g.51937366T>C | CA388021179 | ATP7B | c.*1581A>G (n.*1581A>G) c.*2675A>G (n.*2675A>G) c.3310A>G (p.Ile1104Val) c.3931A>G (p.Ile1311Val) c.3598A>G (p.Ile1200Val) c.3679A>G (p.Ile1227Val) n.1254A>G c.3697A>G (p.Ile1233Val) n.4070A>G n.797A>G c.2866A>G (p.Ile956Val) c.2641A>G (p.Ile881Val) c.3736A>G (p.Ile1246Val) c.1709A>G c.*1032A>G (n.*1032A>G) n.4675A>G n.3276A>G c.3787A>G (p.Ile1263Val) c.3835A>G (p.Ile1279Val) c.3895A>G (p.Ile1299Val) c.3445A>G (p.Ile1149Val) c.1747A>G (p.Ile583Val) c.1564A>G (p.Ile522Val) c.3796A>G (p.Ile1266Val) c.3748A>G (p.Ile1250Val) c.3517A>G (p.Ile1173Val) c.3418A>G (p.Ile1140Val) c.2599A>G (p.Ile867Val) n.4150A>G | |
13 | g.51937366T>G | CA388021181 | ATP7B | c.*1581A>C (n.*1581A>C) c.*2675A>C (n.*2675A>C) c.3310A>C (p.Ile1104Leu) c.3931A>C (p.Ile1311Leu) c.3598A>C (p.Ile1200Leu) c.3679A>C (p.Ile1227Leu) n.1254A>C c.3697A>C (p.Ile1233Leu) n.4070A>C n.797A>C c.2866A>C (p.Ile956Leu) c.2641A>C (p.Ile881Leu) c.3736A>C (p.Ile1246Leu) c.1709A>C c.*1032A>C (n.*1032A>C) n.4675A>C n.3276A>C c.3787A>C (p.Ile1263Leu) c.3835A>C (p.Ile1279Leu) c.3895A>C (p.Ile1299Leu) c.3445A>C (p.Ile1149Leu) c.1747A>C (p.Ile583Leu) c.1564A>C (p.Ile522Leu) c.3796A>C (p.Ile1266Leu) c.3748A>C (p.Ile1250Leu) c.3517A>C (p.Ile1173Leu) c.3418A>C (p.Ile1140Leu) c.2599A>C (p.Ile867Leu) n.4150A>C | |
13 | g.51937366_51937369del | CA2623119089 | ATP7B | c.*1578_*1581del (n.*1578_*1581del) c.*2672_*2675del (n.*2672_*2675del) c.3307_3310del (p.Ser1103PhefsTer19) c.3928_3931del (p.Ser1310PhefsTer19) c.3595_3598del (p.Ser1199PhefsTer19) c.3676_3679del (p.Ser1226PhefsTer19) n.1251_1254del c.3694_3697del (p.Ser1232PhefsTer19) n.4067_4070del n.794_797del c.2863_2866del (p.Ser955PhefsTer19) c.2638_2641del (p.Ser880PhefsTer19) c.3733_3736del (p.Ser1245PhefsTer19) c.1706_1709del c.*1029_*1032del (n.*1029_*1032del) n.4672_4675del n.3273_3276del c.3784_3787del (p.Ser1262PhefsTer19) c.3832_3835del (p.Ser1278PhefsTer19) c.3892_3895del (p.Ser1298PhefsTer19) c.3442_3445del (p.Ser1148PhefsTer19) c.1744_1747del (p.Ser582PhefsTer19) c.1561_1564del (p.Ser521PhefsTer19) c.3793_3796del (p.Ser1265PhefsTer19) c.3745_3748del (p.Ser1249PhefsTer19) c.3514_3517del (p.Ser1172PhefsTer19) c.3415_3418del (p.Ser1139PhefsTer19) c.2596_2599del (p.Ser866PhefsTer19) n.4147_4150del | gnomAD v4 |
13 | g.51937367G>A | CA484024248 | ATP7B | c.*1580C>T (n.*1580C>T) c.*2674C>T (n.*2674C>T) c.3309C>T (p.Ser1103=) c.3930C>T (p.Ser1310=) c.3597C>T (p.Ser1199=) c.3678C>T (p.Ser1226=) n.1253C>T c.3696C>T (p.Ser1232=) n.4069C>T n.796C>T c.2865C>T (p.Ser955=) c.2640C>T (p.Ser880=) c.3735C>T (p.Ser1245=) c.1708C>T c.*1031C>T (n.*1031C>T) n.4674C>T n.3275C>T c.3786C>T (p.Ser1262=) c.3834C>T (p.Ser1278=) c.3894C>T (p.Ser1298=) c.3444C>T (p.Ser1148=) c.1746C>T (p.Ser582=) c.1563C>T (p.Ser521=) c.3795C>T (p.Ser1265=) c.3747C>T (p.Ser1249=) c.3516C>T (p.Ser1172=) c.3417C>T (p.Ser1139=) c.2598C>T (p.Ser866=) n.4149C>T | |
13 | g.51937367G>C | CA6988532 | ATP7B | c.*1580C>G (n.*1580C>G) c.*2674C>G (n.*2674C>G) c.3309C>G (p.Ser1103Arg) c.3930C>G (p.Ser1310Arg) c.3597C>G (p.Ser1199Arg) c.3678C>G (p.Ser1226Arg) n.1253C>G c.3696C>G (p.Ser1232Arg) n.4069C>G n.796C>G c.2865C>G (p.Ser955Arg) c.2640C>G (p.Ser880Arg) c.3735C>G (p.Ser1245Arg) c.1708C>G c.*1031C>G (n.*1031C>G) n.4674C>G n.3275C>G c.3786C>G (p.Ser1262Arg) c.3834C>G (p.Ser1278Arg) c.3894C>G (p.Ser1298Arg) c.3444C>G (p.Ser1148Arg) c.1746C>G (p.Ser582Arg) c.1563C>G (p.Ser521Arg) c.3795C>G (p.Ser1265Arg) c.3747C>G (p.Ser1249Arg) c.3516C>G (p.Ser1172Arg) c.3417C>G (p.Ser1139Arg) c.2598C>G (p.Ser866Arg) n.4149C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |