WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51934909_51934916del | CA2697551864 | ATP7B | c.*1888_*1895del (n.*1888_*1895del) c.*2982_*2989del (n.*2982_*2989del) c.3617_3624del (p.Ser1206CysfsTer?) c.4238_4245del (p.Ser1413CysfsTer?) c.3905_3912del (p.Ser1302CysfsTer?) c.3986_3993del (p.Ser1329CysfsTer?) n.1561_1568del c.4004_4011del (p.Ser1335CysfsTer?) n.4377_4384del n.1104_1111del c.3173_3180del (p.Ser1058CysfsTer?) c.2948_2955del (p.Ser983CysfsTer?) c.4043_4050del (p.Ser1348CysfsTer?) c.2016_2023del c.*1339_*1346del (n.*1339_*1346del) n.4982_4989del n.3583_3590del c.4094_4101del (p.Ser1365CysfsTer?) c.4142_4149del (p.Ser1381CysfsTer?) c.4202_4209del (p.Ser1401CysfsTer?) c.3752_3759del (p.Ser1251CysfsTer?) c.2054_2061del (p.Ser685CysfsTer?) c.1871_1878del (p.Ser624CysfsTer?) c.4103_4110del (p.Ser1368CysfsTer?) c.4055_4062del (p.Ser1352CysfsTer?) c.3824_3831del (p.Ser1275CysfsTer?) c.3725_3732del (p.Ser1242CysfsTer?) c.2906_2913del (p.Ser969CysfsTer?) n.4457_4464del | ClinVar |
| 13 | g.51934916del | CA16041659 | ATP7B | c.*1892del (n.*1892del) c.*2986del (n.*2986del) c.3621del (p.Arg1208GlyfsTer19) c.4242del (p.Arg1415GlyfsTer19) c.3909del (p.Arg1304GlyfsTer19) c.3990del (p.Arg1331GlyfsTer19) n.1565del c.4008del (p.Arg1337GlyfsTer19) n.4381del n.1108del c.3177del (p.Arg1060GlyfsTer19) c.2952del (p.Arg985GlyfsTer19) c.4047del (p.Arg1350GlyfsTer19) c.2020del c.*1343del (n.*1343del) n.4986del n.3587del c.4098del (p.Arg1367GlyfsTer19) c.4146del (p.Arg1383GlyfsTer19) c.4206del (p.Arg1403GlyfsTer19) c.3756del (p.Arg1253GlyfsTer19) c.2058del (p.Arg687GlyfsTer19) c.1875del (p.Arg626GlyfsTer19) c.4107del (p.Arg1370GlyfsTer19) c.4059del (p.Arg1354GlyfsTer19) c.3828del (p.Arg1277GlyfsTer19) c.3729del (p.Arg1244GlyfsTer19) c.2910del (p.Arg971GlyfsTer19) n.4461del | ClinVar dbSNP |
| 13 | g.51934916G>A | CA388019441 | ATP7B | c.*1888C>T (n.*1888C>T) c.*2982C>T (n.*2982C>T) c.3617C>T (p.Ser1206Phe) c.4238C>T (p.Ser1413Phe) c.3905C>T (p.Ser1302Phe) c.3986C>T (p.Ser1329Phe) n.1561C>T c.4004C>T (p.Ser1335Phe) n.4377C>T n.1104C>T c.3173C>T (p.Ser1058Phe) c.2948C>T (p.Ser983Phe) c.4043C>T (p.Ser1348Phe) c.2016C>T c.*1339C>T (n.*1339C>T) n.4982C>T n.3583C>T c.4094C>T (p.Ser1365Phe) c.4142C>T (p.Ser1381Phe) c.4202C>T (p.Ser1401Phe) c.3752C>T (p.Ser1251Phe) c.2054C>T (p.Ser685Phe) c.1871C>T (p.Ser624Phe) c.4103C>T (p.Ser1368Phe) c.4055C>T (p.Ser1352Phe) c.3824C>T (p.Ser1275Phe) c.3725C>T (p.Ser1242Phe) c.2906C>T (p.Ser969Phe) n.4457C>T | |
| 13 | g.51934916G>C | CA388019443 | ATP7B | c.*1888C>G (n.*1888C>G) c.*2982C>G (n.*2982C>G) c.3617C>G (p.Ser1206Cys) c.4238C>G (p.Ser1413Cys) c.3905C>G (p.Ser1302Cys) c.3986C>G (p.Ser1329Cys) n.1561C>G c.4004C>G (p.Ser1335Cys) n.4377C>G n.1104C>G c.3173C>G (p.Ser1058Cys) c.2948C>G (p.Ser983Cys) c.4043C>G (p.Ser1348Cys) c.2016C>G c.*1339C>G (n.*1339C>G) n.4982C>G n.3583C>G c.4094C>G (p.Ser1365Cys) c.4142C>G (p.Ser1381Cys) c.4202C>G (p.Ser1401Cys) c.3752C>G (p.Ser1251Cys) c.2054C>G (p.Ser685Cys) c.1871C>G (p.Ser624Cys) c.4103C>G (p.Ser1368Cys) c.4055C>G (p.Ser1352Cys) c.3824C>G (p.Ser1275Cys) c.3725C>G (p.Ser1242Cys) c.2906C>G (p.Ser969Cys) n.4457C>G | |
| 13 | g.51934916G>T | CA388019445 | ATP7B | c.*1888C>A (n.*1888C>A) c.*2982C>A (n.*2982C>A) c.3617C>A (p.Ser1206Tyr) c.4238C>A (p.Ser1413Tyr) c.3905C>A (p.Ser1302Tyr) c.3986C>A (p.Ser1329Tyr) n.1561C>A c.4004C>A (p.Ser1335Tyr) n.4377C>A n.1104C>A c.3173C>A (p.Ser1058Tyr) c.2948C>A (p.Ser983Tyr) c.4043C>A (p.Ser1348Tyr) c.2016C>A c.*1339C>A (n.*1339C>A) n.4982C>A n.3583C>A c.4094C>A (p.Ser1365Tyr) c.4142C>A (p.Ser1381Tyr) c.4202C>A (p.Ser1401Tyr) c.3752C>A (p.Ser1251Tyr) c.2054C>A (p.Ser685Tyr) c.1871C>A (p.Ser624Tyr) c.4103C>A (p.Ser1368Tyr) c.4055C>A (p.Ser1352Tyr) c.3824C>A (p.Ser1275Tyr) c.3725C>A (p.Ser1242Tyr) c.2906C>A (p.Ser969Tyr) n.4457C>A | gnomAD v4 |
| 13 | g.51934917A= | CA2091550414 | ATP7B | c.*1887T= (n.*1887T=) c.*2981T= (n.*2981T=) c.3616T= (p.Ser1206=) c.4237T= (p.Ser1413=) c.3904T= (p.Ser1302=) c.3985T= (p.Ser1329=) n.1560T= c.4003T= (p.Ser1335=) n.4376T= n.1103T= c.3172T= (p.Ser1058=) c.2947T= (p.Ser983=) c.4042T= (p.Ser1348=) c.2015T= c.*1338T= (n.*1338T=) n.4981T= n.3582T= c.4093T= (p.Ser1365=) c.4141T= (p.Ser1381=) c.4201T= (p.Ser1401=) c.3751T= (p.Ser1251=) c.2053T= (p.Ser685=) c.1870T= (p.Ser624=) c.4102T= (p.Ser1368=) c.4054T= (p.Ser1352=) c.3823T= (p.Ser1275=) c.3724T= (p.Ser1242=) c.2905T= (p.Ser969=) n.4456T= | |
| 13 | g.51934917A>C | CA388019448 | ATP7B | c.*1887T>G (n.*1887T>G) c.*2981T>G (n.*2981T>G) c.3616T>G (p.Ser1206Ala) c.4237T>G (p.Ser1413Ala) c.3904T>G (p.Ser1302Ala) c.3985T>G (p.Ser1329Ala) n.1560T>G c.4003T>G (p.Ser1335Ala) n.4376T>G n.1103T>G c.3172T>G (p.Ser1058Ala) c.2947T>G (p.Ser983Ala) c.4042T>G (p.Ser1348Ala) c.2015T>G c.*1338T>G (n.*1338T>G) n.4981T>G n.3582T>G c.4093T>G (p.Ser1365Ala) c.4141T>G (p.Ser1381Ala) c.4201T>G (p.Ser1401Ala) c.3751T>G (p.Ser1251Ala) c.2053T>G (p.Ser685Ala) c.1870T>G (p.Ser624Ala) c.4102T>G (p.Ser1368Ala) c.4054T>G (p.Ser1352Ala) c.3823T>G (p.Ser1275Ala) c.3724T>G (p.Ser1242Ala) c.2905T>G (p.Ser969Ala) n.4456T>G | dbSNP gnomAD v4 |
| 13 | g.51934917A>G | CA6988450 | ATP7B | c.*1887T>C (n.*1887T>C) c.*2981T>C (n.*2981T>C) c.3616T>C (p.Ser1206Pro) c.4237T>C (p.Ser1413Pro) c.3904T>C (p.Ser1302Pro) c.3985T>C (p.Ser1329Pro) n.1560T>C c.4003T>C (p.Ser1335Pro) n.4376T>C n.1103T>C c.3172T>C (p.Ser1058Pro) c.2947T>C (p.Ser983Pro) c.4042T>C (p.Ser1348Pro) c.2015T>C c.*1338T>C (n.*1338T>C) n.4981T>C n.3582T>C c.4093T>C (p.Ser1365Pro) c.4141T>C (p.Ser1381Pro) c.4201T>C (p.Ser1401Pro) c.3751T>C (p.Ser1251Pro) c.2053T>C (p.Ser685Pro) c.1870T>C (p.Ser624Pro) c.4102T>C (p.Ser1368Pro) c.4054T>C (p.Ser1352Pro) c.3823T>C (p.Ser1275Pro) c.3724T>C (p.Ser1242Pro) c.2905T>C (p.Ser969Pro) n.4456T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51934917A>T | CA388019451 | ATP7B | c.*1887T>A (n.*1887T>A) c.*2981T>A (n.*2981T>A) c.3616T>A (p.Ser1206Thr) c.4237T>A (p.Ser1413Thr) c.3904T>A (p.Ser1302Thr) c.3985T>A (p.Ser1329Thr) n.1560T>A c.4003T>A (p.Ser1335Thr) n.4376T>A n.1103T>A c.3172T>A (p.Ser1058Thr) c.2947T>A (p.Ser983Thr) c.4042T>A (p.Ser1348Thr) c.2015T>A c.*1338T>A (n.*1338T>A) n.4981T>A n.3582T>A c.4093T>A (p.Ser1365Thr) c.4141T>A (p.Ser1381Thr) c.4201T>A (p.Ser1401Thr) c.3751T>A (p.Ser1251Thr) c.2053T>A (p.Ser685Thr) c.1870T>A (p.Ser624Thr) c.4102T>A (p.Ser1368Thr) c.4054T>A (p.Ser1352Thr) c.3823T>A (p.Ser1275Thr) c.3724T>A (p.Ser1242Thr) c.2905T>A (p.Ser969Thr) n.4456T>A | |
| 13 | g.51934918G>A | CA484024178 | ATP7B | c.*1886C>T (n.*1886C>T) c.*2980C>T (n.*2980C>T) c.3615C>T (p.Asp1205=) c.4236C>T (p.Asp1412=) c.3903C>T (p.Asp1301=) c.3984C>T (p.Asp1328=) n.1559C>T c.4002C>T (p.Asp1334=) n.4375C>T n.1102C>T c.3171C>T (p.Asp1057=) c.2946C>T (p.Asp982=) c.4041C>T (p.Asp1347=) c.2014C>T c.*1337C>T (n.*1337C>T) n.4980C>T n.3581C>T c.4092C>T (p.Asp1364=) c.4140C>T (p.Asp1380=) c.4200C>T (p.Asp1400=) c.3750C>T (p.Asp1250=) c.2052C>T (p.Asp684=) c.1869C>T (p.Asp623=) c.4101C>T (p.Asp1367=) c.4053C>T (p.Asp1351=) c.3822C>T (p.Asp1274=) c.3723C>T (p.Asp1241=) c.2904C>T (p.Asp968=) n.4455C>T | ClinVar dbSNP |
| 13 | g.51934918G>C | CA388019454 | ATP7B | c.*1886C>G (n.*1886C>G) c.*2980C>G (n.*2980C>G) c.3615C>G (p.Asp1205Glu) c.4236C>G (p.Asp1412Glu) c.3903C>G (p.Asp1301Glu) c.3984C>G (p.Asp1328Glu) n.1559C>G c.4002C>G (p.Asp1334Glu) n.4375C>G n.1102C>G c.3171C>G (p.Asp1057Glu) c.2946C>G (p.Asp982Glu) c.4041C>G (p.Asp1347Glu) c.2014C>G c.*1337C>G (n.*1337C>G) n.4980C>G n.3581C>G c.4092C>G (p.Asp1364Glu) c.4140C>G (p.Asp1380Glu) c.4200C>G (p.Asp1400Glu) c.3750C>G (p.Asp1250Glu) c.2052C>G (p.Asp684Glu) c.1869C>G (p.Asp623Glu) c.4101C>G (p.Asp1367Glu) c.4053C>G (p.Asp1351Glu) c.3822C>G (p.Asp1274Glu) c.3723C>G (p.Asp1241Glu) c.2904C>G (p.Asp968Glu) n.4455C>G | |
| 13 | g.51934918G>T | CA388019456 | ATP7B | c.*1886C>A (n.*1886C>A) c.*2980C>A (n.*2980C>A) c.3615C>A (p.Asp1205Glu) c.4236C>A (p.Asp1412Glu) c.3903C>A (p.Asp1301Glu) c.3984C>A (p.Asp1328Glu) n.1559C>A c.4002C>A (p.Asp1334Glu) n.4375C>A n.1102C>A c.3171C>A (p.Asp1057Glu) c.2946C>A (p.Asp982Glu) c.4041C>A (p.Asp1347Glu) c.2014C>A c.*1337C>A (n.*1337C>A) n.4980C>A n.3581C>A c.4092C>A (p.Asp1364Glu) c.4140C>A (p.Asp1380Glu) c.4200C>A (p.Asp1400Glu) c.3750C>A (p.Asp1250Glu) c.2052C>A (p.Asp684Glu) c.1869C>A (p.Asp623Glu) c.4101C>A (p.Asp1367Glu) c.4053C>A (p.Asp1351Glu) c.3822C>A (p.Asp1274Glu) c.3723C>A (p.Asp1241Glu) c.2904C>A (p.Asp968Glu) n.4455C>A | |
| 13 | g.51934919T>A | CA388019459 | ATP7B | c.*1885A>T (n.*1885A>T) c.*2979A>T (n.*2979A>T) c.3614A>T (p.Asp1205Val) c.4235A>T (p.Asp1412Val) c.3902A>T (p.Asp1301Val) c.3983A>T (p.Asp1328Val) n.1558A>T c.4001A>T (p.Asp1334Val) n.4374A>T n.1101A>T c.3170A>T (p.Asp1057Val) c.2945A>T (p.Asp982Val) c.4040A>T (p.Asp1347Val) c.2013A>T c.*1336A>T (n.*1336A>T) n.4979A>T n.3580A>T c.4091A>T (p.Asp1364Val) c.4139A>T (p.Asp1380Val) c.4199A>T (p.Asp1400Val) c.3749A>T (p.Asp1250Val) c.2051A>T (p.Asp684Val) c.1868A>T (p.Asp623Val) c.4100A>T (p.Asp1367Val) c.4052A>T (p.Asp1351Val) c.3821A>T (p.Asp1274Val) c.3722A>T (p.Asp1241Val) c.2903A>T (p.Asp968Val) n.4454A>T | |
| 13 | g.51934919T>C | CA388019464 | ATP7B | c.*1885A>G (n.*1885A>G) c.*2979A>G (n.*2979A>G) c.3614A>G (p.Asp1205Gly) c.4235A>G (p.Asp1412Gly) c.3902A>G (p.Asp1301Gly) c.3983A>G (p.Asp1328Gly) n.1558A>G c.4001A>G (p.Asp1334Gly) n.4374A>G n.1101A>G c.3170A>G (p.Asp1057Gly) c.2945A>G (p.Asp982Gly) c.4040A>G (p.Asp1347Gly) c.2013A>G c.*1336A>G (n.*1336A>G) n.4979A>G n.3580A>G c.4091A>G (p.Asp1364Gly) c.4139A>G (p.Asp1380Gly) c.4199A>G (p.Asp1400Gly) c.3749A>G (p.Asp1250Gly) c.2051A>G (p.Asp684Gly) c.1868A>G (p.Asp623Gly) c.4100A>G (p.Asp1367Gly) c.4052A>G (p.Asp1351Gly) c.3821A>G (p.Asp1274Gly) c.3722A>G (p.Asp1241Gly) c.2903A>G (p.Asp968Gly) n.4454A>G | |
| 13 | g.51934919T>G | CA388019461 | ATP7B | c.*1885A>C (n.*1885A>C) c.*2979A>C (n.*2979A>C) c.3614A>C (p.Asp1205Ala) c.4235A>C (p.Asp1412Ala) c.3902A>C (p.Asp1301Ala) c.3983A>C (p.Asp1328Ala) n.1558A>C c.4001A>C (p.Asp1334Ala) n.4374A>C n.1101A>C c.3170A>C (p.Asp1057Ala) c.2945A>C (p.Asp982Ala) c.4040A>C (p.Asp1347Ala) c.2013A>C c.*1336A>C (n.*1336A>C) n.4979A>C n.3580A>C c.4091A>C (p.Asp1364Ala) c.4139A>C (p.Asp1380Ala) c.4199A>C (p.Asp1400Ala) c.3749A>C (p.Asp1250Ala) c.2051A>C (p.Asp684Ala) c.1868A>C (p.Asp623Ala) c.4100A>C (p.Asp1367Ala) c.4052A>C (p.Asp1351Ala) c.3821A>C (p.Asp1274Ala) c.3722A>C (p.Asp1241Ala) c.2903A>C (p.Asp968Ala) n.4454A>C | |
| 13 | g.51934920C>A | CA388019467 | ATP7B | c.*1884G>T (n.*1884G>T) c.*2978G>T (n.*2978G>T) c.3613G>T (p.Asp1205Tyr) c.4234G>T (p.Asp1412Tyr) c.3901G>T (p.Asp1301Tyr) c.3982G>T (p.Asp1328Tyr) n.1557G>T c.4000G>T (p.Asp1334Tyr) n.4373G>T n.1100G>T c.3169G>T (p.Asp1057Tyr) c.2944G>T (p.Asp982Tyr) c.4039G>T (p.Asp1347Tyr) c.2012G>T c.*1335G>T (n.*1335G>T) n.4978G>T n.3579G>T c.4090G>T (p.Asp1364Tyr) c.4138G>T (p.Asp1380Tyr) c.4198G>T (p.Asp1400Tyr) c.3748G>T (p.Asp1250Tyr) c.2050G>T (p.Asp684Tyr) c.1867G>T (p.Asp623Tyr) c.4099G>T (p.Asp1367Tyr) c.4051G>T (p.Asp1351Tyr) c.3820G>T (p.Asp1274Tyr) c.3721G>T (p.Asp1241Tyr) c.2902G>T (p.Asp968Tyr) n.4453G>T | |
| 13 | g.51934920C>G | CA388019470 | ATP7B | c.*1884G>C (n.*1884G>C) c.*2978G>C (n.*2978G>C) c.3613G>C (p.Asp1205His) c.4234G>C (p.Asp1412His) c.3901G>C (p.Asp1301His) c.3982G>C (p.Asp1328His) n.1557G>C c.4000G>C (p.Asp1334His) n.4373G>C n.1100G>C c.3169G>C (p.Asp1057His) c.2944G>C (p.Asp982His) c.4039G>C (p.Asp1347His) c.2012G>C c.*1335G>C (n.*1335G>C) n.4978G>C n.3579G>C c.4090G>C (p.Asp1364His) c.4138G>C (p.Asp1380His) c.4198G>C (p.Asp1400His) c.3748G>C (p.Asp1250His) c.2050G>C (p.Asp684His) c.1867G>C (p.Asp623His) c.4099G>C (p.Asp1367His) c.4051G>C (p.Asp1351His) c.3820G>C (p.Asp1274His) c.3721G>C (p.Asp1241His) c.2902G>C (p.Asp968His) n.4453G>C | |
| 13 | g.51934920C>T | CA388019472 | ATP7B | c.*1884G>A (n.*1884G>A) c.*2978G>A (n.*2978G>A) c.3613G>A (p.Asp1205Asn) c.4234G>A (p.Asp1412Asn) c.3901G>A (p.Asp1301Asn) c.3982G>A (p.Asp1328Asn) n.1557G>A c.4000G>A (p.Asp1334Asn) n.4373G>A n.1100G>A c.3169G>A (p.Asp1057Asn) c.2944G>A (p.Asp982Asn) c.4039G>A (p.Asp1347Asn) c.2012G>A c.*1335G>A (n.*1335G>A) n.4978G>A n.3579G>A c.4090G>A (p.Asp1364Asn) c.4138G>A (p.Asp1380Asn) c.4198G>A (p.Asp1400Asn) c.3748G>A (p.Asp1250Asn) c.2050G>A (p.Asp684Asn) c.1867G>A (p.Asp623Asn) c.4099G>A (p.Asp1367Asn) c.4051G>A (p.Asp1351Asn) c.3820G>A (p.Asp1274Asn) c.3721G>A (p.Asp1241Asn) c.2902G>A (p.Asp968Asn) n.4453G>A | COSMIC |
| 13 | g.51934921C>A | CA484024179 | ATP7B | c.*1883G>T (n.*1883G>T) c.*2977G>T (n.*2977G>T) c.3612G>T (p.Arg1204=) c.4233G>T (p.Arg1411=) c.3900G>T (p.Arg1300=) c.3981G>T (p.Arg1327=) n.1556G>T c.3999G>T (p.Arg1333=) n.4372G>T n.1099G>T c.3168G>T (p.Arg1056=) c.2943G>T (p.Arg981=) c.4038G>T (p.Arg1346=) c.2011G>T c.*1334G>T (n.*1334G>T) n.4977G>T n.3578G>T c.4089G>T (p.Arg1363=) c.4137G>T (p.Arg1379=) c.4197G>T (p.Arg1399=) c.3747G>T (p.Arg1249=) c.2049G>T (p.Arg683=) c.1866G>T (p.Arg622=) c.4098G>T (p.Arg1366=) c.4050G>T (p.Arg1350=) c.3819G>T (p.Arg1273=) c.3720G>T (p.Arg1240=) c.2901G>T (p.Arg967=) n.4452G>T | dbSNP gnomAD v4 |
| 13 | g.51934921C>G | CA484024180 | ATP7B | c.*1883G>C (n.*1883G>C) c.*2977G>C (n.*2977G>C) c.3612G>C (p.Arg1204=) c.4233G>C (p.Arg1411=) c.3900G>C (p.Arg1300=) c.3981G>C (p.Arg1327=) n.1556G>C c.3999G>C (p.Arg1333=) n.4372G>C n.1099G>C c.3168G>C (p.Arg1056=) c.2943G>C (p.Arg981=) c.4038G>C (p.Arg1346=) c.2011G>C c.*1334G>C (n.*1334G>C) n.4977G>C n.3578G>C c.4089G>C (p.Arg1363=) c.4137G>C (p.Arg1379=) c.4197G>C (p.Arg1399=) c.3747G>C (p.Arg1249=) c.2049G>C (p.Arg683=) c.1866G>C (p.Arg622=) c.4098G>C (p.Arg1366=) c.4050G>C (p.Arg1350=) c.3819G>C (p.Arg1273=) c.3720G>C (p.Arg1240=) c.2901G>C (p.Arg967=) n.4452G>C | |
| 13 | g.51934921C>T | CA484024181 | ATP7B | c.*1883G>A (n.*1883G>A) c.*2977G>A (n.*2977G>A) c.3612G>A (p.Arg1204=) c.4233G>A (p.Arg1411=) c.3900G>A (p.Arg1300=) c.3981G>A (p.Arg1327=) n.1556G>A c.3999G>A (p.Arg1333=) n.4372G>A n.1099G>A c.3168G>A (p.Arg1056=) c.2943G>A (p.Arg981=) c.4038G>A (p.Arg1346=) c.2011G>A c.*1334G>A (n.*1334G>A) n.4977G>A n.3578G>A c.4089G>A (p.Arg1363=) c.4137G>A (p.Arg1379=) c.4197G>A (p.Arg1399=) c.3747G>A (p.Arg1249=) c.2049G>A (p.Arg683=) c.1866G>A (p.Arg622=) c.4098G>A (p.Arg1366=) c.4050G>A (p.Arg1350=) c.3819G>A (p.Arg1273=) c.3720G>A (p.Arg1240=) c.2901G>A (p.Arg967=) n.4452G>A | |
| 13 | g.51934922C>A | CA388019474 | ATP7B | c.*1882G>T (n.*1882G>T) c.*2976G>T (n.*2976G>T) c.3611G>T (p.Arg1204Leu) c.4232G>T (p.Arg1411Leu) c.3899G>T (p.Arg1300Leu) c.3980G>T (p.Arg1327Leu) n.1555G>T c.3998G>T (p.Arg1333Leu) n.4371G>T n.1098G>T c.3167G>T (p.Arg1056Leu) c.2942G>T (p.Arg981Leu) c.4037G>T (p.Arg1346Leu) c.2010G>T c.*1333G>T (n.*1333G>T) n.4976G>T n.3577G>T c.4088G>T (p.Arg1363Leu) c.4136G>T (p.Arg1379Leu) c.4196G>T (p.Arg1399Leu) c.3746G>T (p.Arg1249Leu) c.2048G>T (p.Arg683Leu) c.1865G>T (p.Arg622Leu) c.4097G>T (p.Arg1366Leu) c.4049G>T (p.Arg1350Leu) c.3818G>T (p.Arg1273Leu) c.3719G>T (p.Arg1240Leu) c.2900G>T (p.Arg967Leu) n.4451G>T | |
| 13 | g.51934922C= | CA2091550420 | ATP7B | c.*1882G= (n.*1882G=) c.*2976G= (n.*2976G=) c.3611G= (p.Arg1204=) c.4232G= (p.Arg1411=) c.3899G= (p.Arg1300=) c.3980G= (p.Arg1327=) n.1555G= c.3998G= (p.Arg1333=) n.4371G= n.1098G= c.3167G= (p.Arg1056=) c.2942G= (p.Arg981=) c.4037G= (p.Arg1346=) c.2010G= c.*1333G= (n.*1333G=) n.4976G= n.3577G= c.4088G= (p.Arg1363=) c.4136G= (p.Arg1379=) c.4196G= (p.Arg1399=) c.3746G= (p.Arg1249=) c.2048G= (p.Arg683=) c.1865G= (p.Arg622=) c.4097G= (p.Arg1366=) c.4049G= (p.Arg1350=) c.3818G= (p.Arg1273=) c.3719G= (p.Arg1240=) c.2900G= (p.Arg967=) n.4451G= | |
| 13 | g.51934922C>G | CA388019476 | ATP7B | c.*1882G>C (n.*1882G>C) c.*2976G>C (n.*2976G>C) c.3611G>C (p.Arg1204Pro) c.4232G>C (p.Arg1411Pro) c.3899G>C (p.Arg1300Pro) c.3980G>C (p.Arg1327Pro) n.1555G>C c.3998G>C (p.Arg1333Pro) n.4371G>C n.1098G>C c.3167G>C (p.Arg1056Pro) c.2942G>C (p.Arg981Pro) c.4037G>C (p.Arg1346Pro) c.2010G>C c.*1333G>C (n.*1333G>C) n.4976G>C n.3577G>C c.4088G>C (p.Arg1363Pro) c.4136G>C (p.Arg1379Pro) c.4196G>C (p.Arg1399Pro) c.3746G>C (p.Arg1249Pro) c.2048G>C (p.Arg683Pro) c.1865G>C (p.Arg622Pro) c.4097G>C (p.Arg1366Pro) c.4049G>C (p.Arg1350Pro) c.3818G>C (p.Arg1273Pro) c.3719G>C (p.Arg1240Pro) c.2900G>C (p.Arg967Pro) n.4451G>C | gnomAD v4 |
| 13 | g.51934922C>T | CA6988451 | ATP7B | c.*1882G>A (n.*1882G>A) c.*2976G>A (n.*2976G>A) c.3611G>A (p.Arg1204Gln) c.4232G>A (p.Arg1411Gln) c.3899G>A (p.Arg1300Gln) c.3980G>A (p.Arg1327Gln) n.1555G>A c.3998G>A (p.Arg1333Gln) n.4371G>A n.1098G>A c.3167G>A (p.Arg1056Gln) c.2942G>A (p.Arg981Gln) c.4037G>A (p.Arg1346Gln) c.2010G>A c.*1333G>A (n.*1333G>A) n.4976G>A n.3577G>A c.4088G>A (p.Arg1363Gln) c.4136G>A (p.Arg1379Gln) c.4196G>A (p.Arg1399Gln) c.3746G>A (p.Arg1249Gln) c.2048G>A (p.Arg683Gln) c.1865G>A (p.Arg622Gln) c.4097G>A (p.Arg1366Gln) c.4049G>A (p.Arg1350Gln) c.3818G>A (p.Arg1273Gln) c.3719G>A (p.Arg1240Gln) c.2900G>A (p.Arg967Gln) n.4451G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.51934923G>A | CA250071636 | ATP7B | c.*1881C>T (n.*1881C>T) c.*2975C>T (n.*2975C>T) c.3610C>T (p.Arg1204Trp) c.4231C>T (p.Arg1411Trp) c.3898C>T (p.Arg1300Trp) c.3979C>T (p.Arg1327Trp) n.1554C>T c.3997C>T (p.Arg1333Trp) n.4370C>T n.1097C>T c.3166C>T (p.Arg1056Trp) c.2941C>T (p.Arg981Trp) c.4036C>T (p.Arg1346Trp) c.2009C>T c.*1332C>T (n.*1332C>T) n.4975C>T n.3576C>T c.4087C>T (p.Arg1363Trp) c.4135C>T (p.Arg1379Trp) c.4195C>T (p.Arg1399Trp) c.3745C>T (p.Arg1249Trp) c.2047C>T (p.Arg683Trp) c.1864C>T (p.Arg622Trp) c.4096C>T (p.Arg1366Trp) c.4048C>T (p.Arg1350Trp) c.3817C>T (p.Arg1273Trp) c.3718C>T (p.Arg1240Trp) c.2899C>T (p.Arg967Trp) n.4450C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.51934923G>C | CA388019479 | ATP7B | c.*1881C>G (n.*1881C>G) c.*2975C>G (n.*2975C>G) c.3610C>G (p.Arg1204Gly) c.4231C>G (p.Arg1411Gly) c.3898C>G (p.Arg1300Gly) c.3979C>G (p.Arg1327Gly) n.1554C>G c.3997C>G (p.Arg1333Gly) n.4370C>G n.1097C>G c.3166C>G (p.Arg1056Gly) c.2941C>G (p.Arg981Gly) c.4036C>G (p.Arg1346Gly) c.2009C>G c.*1332C>G (n.*1332C>G) n.4975C>G n.3576C>G c.4087C>G (p.Arg1363Gly) c.4135C>G (p.Arg1379Gly) c.4195C>G (p.Arg1399Gly) c.3745C>G (p.Arg1249Gly) c.2047C>G (p.Arg683Gly) c.1864C>G (p.Arg622Gly) c.4096C>G (p.Arg1366Gly) c.4048C>G (p.Arg1350Gly) c.3817C>G (p.Arg1273Gly) c.3718C>G (p.Arg1240Gly) c.2899C>G (p.Arg967Gly) n.4450C>G | ClinVar dbSNP |
| 13 | g.51934923G= | CA2091550424 | ATP7B | c.*1881C= (n.*1881C=) c.*2975C= (n.*2975C=) c.3610C= (p.Arg1204=) c.4231C= (p.Arg1411=) c.3898C= (p.Arg1300=) c.3979C= (p.Arg1327=) n.1554C= c.3997C= (p.Arg1333=) n.4370C= n.1097C= c.3166C= (p.Arg1056=) c.2941C= (p.Arg981=) c.4036C= (p.Arg1346=) c.2009C= c.*1332C= (n.*1332C=) n.4975C= n.3576C= c.4087C= (p.Arg1363=) c.4135C= (p.Arg1379=) c.4195C= (p.Arg1399=) c.3745C= (p.Arg1249=) c.2047C= (p.Arg683=) c.1864C= (p.Arg622=) c.4096C= (p.Arg1366=) c.4048C= (p.Arg1350=) c.3817C= (p.Arg1273=) c.3718C= (p.Arg1240=) c.2899C= (p.Arg967=) n.4450C= | |
| 13 | g.51934923G>T | CA484024182 | ATP7B | c.*1881C>A (n.*1881C>A) c.*2975C>A (n.*2975C>A) c.3610C>A (p.Arg1204=) c.4231C>A (p.Arg1411=) c.3898C>A (p.Arg1300=) c.3979C>A (p.Arg1327=) n.1554C>A c.3997C>A (p.Arg1333=) n.4370C>A n.1097C>A c.3166C>A (p.Arg1056=) c.2941C>A (p.Arg981=) c.4036C>A (p.Arg1346=) c.2009C>A c.*1332C>A (n.*1332C>A) n.4975C>A n.3576C>A c.4087C>A (p.Arg1363=) c.4135C>A (p.Arg1379=) c.4195C>A (p.Arg1399=) c.3745C>A (p.Arg1249=) c.2047C>A (p.Arg683=) c.1864C>A (p.Arg622=) c.4096C>A (p.Arg1366=) c.4048C>A (p.Arg1350=) c.3817C>A (p.Arg1273=) c.3718C>A (p.Arg1240=) c.2899C>A (p.Arg967=) n.4450C>A | |
| 13 | g.51934924C>A | CA388019482 | ATP7B | c.*1880G>T (n.*1880G>T) c.*2974G>T (n.*2974G>T) c.3609G>T (p.Trp1203Cys) c.4230G>T (p.Trp1410Cys) c.3897G>T (p.Trp1299Cys) c.3978G>T (p.Trp1326Cys) n.1553G>T c.3996G>T (p.Trp1332Cys) n.4369G>T n.1096G>T c.3165G>T (p.Trp1055Cys) c.2940G>T (p.Trp980Cys) c.4035G>T (p.Trp1345Cys) c.2008G>T c.*1331G>T (n.*1331G>T) n.4974G>T n.3575G>T c.4086G>T (p.Trp1362Cys) c.4134G>T (p.Trp1378Cys) c.4194G>T (p.Trp1398Cys) c.3744G>T (p.Trp1248Cys) c.2046G>T (p.Trp682Cys) c.1863G>T (p.Trp621Cys) c.4095G>T (p.Trp1365Cys) c.4047G>T (p.Trp1349Cys) c.3816G>T (p.Trp1272Cys) c.3717G>T (p.Trp1239Cys) c.2898G>T (p.Trp966Cys) n.4449G>T | |
| 13 | g.51934924C>G | CA388019485 | ATP7B | c.*1880G>C (n.*1880G>C) c.*2974G>C (n.*2974G>C) c.3609G>C (p.Trp1203Cys) c.4230G>C (p.Trp1410Cys) c.3897G>C (p.Trp1299Cys) c.3978G>C (p.Trp1326Cys) n.1553G>C c.3996G>C (p.Trp1332Cys) n.4369G>C n.1096G>C c.3165G>C (p.Trp1055Cys) c.2940G>C (p.Trp980Cys) c.4035G>C (p.Trp1345Cys) c.2008G>C c.*1331G>C (n.*1331G>C) n.4974G>C n.3575G>C c.4086G>C (p.Trp1362Cys) c.4134G>C (p.Trp1378Cys) c.4194G>C (p.Trp1398Cys) c.3744G>C (p.Trp1248Cys) c.2046G>C (p.Trp682Cys) c.1863G>C (p.Trp621Cys) c.4095G>C (p.Trp1365Cys) c.4047G>C (p.Trp1349Cys) c.3816G>C (p.Trp1272Cys) c.3717G>C (p.Trp1239Cys) c.2898G>C (p.Trp966Cys) n.4449G>C | |
| 13 | g.51934924C>T | CA388019487 | ATP7B | c.*1880G>A (n.*1880G>A) c.*2974G>A (n.*2974G>A) c.3609G>A (p.Trp1203Ter) c.4230G>A (p.Trp1410Ter) c.3897G>A (p.Trp1299Ter) c.3978G>A (p.Trp1326Ter) n.1553G>A c.3996G>A (p.Trp1332Ter) n.4369G>A n.1096G>A c.3165G>A (p.Trp1055Ter) c.2940G>A (p.Trp980Ter) c.4035G>A (p.Trp1345Ter) c.2008G>A c.*1331G>A (n.*1331G>A) n.4974G>A n.3575G>A c.4086G>A (p.Trp1362Ter) c.4134G>A (p.Trp1378Ter) c.4194G>A (p.Trp1398Ter) c.3744G>A (p.Trp1248Ter) c.2046G>A (p.Trp682Ter) c.1863G>A (p.Trp621Ter) c.4095G>A (p.Trp1365Ter) c.4047G>A (p.Trp1349Ter) c.3816G>A (p.Trp1272Ter) c.3717G>A (p.Trp1239Ter) c.2898G>A (p.Trp966Ter) n.4449G>A | ClinVar |
| 13 | g.51934925C>A | CA388019489 | ATP7B | c.*1879G>T (n.*1879G>T) c.*2973G>T (n.*2973G>T) c.3608G>T (p.Trp1203Leu) c.4229G>T (p.Trp1410Leu) c.3896G>T (p.Trp1299Leu) c.3977G>T (p.Trp1326Leu) n.1552G>T c.3995G>T (p.Trp1332Leu) n.4368G>T n.1095G>T c.3164G>T (p.Trp1055Leu) c.2939G>T (p.Trp980Leu) c.4034G>T (p.Trp1345Leu) c.2007G>T c.*1330G>T (n.*1330G>T) n.4973G>T n.3574G>T c.4085G>T (p.Trp1362Leu) c.4133G>T (p.Trp1378Leu) c.4193G>T (p.Trp1398Leu) c.3743G>T (p.Trp1248Leu) c.2045G>T (p.Trp682Leu) c.1862G>T (p.Trp621Leu) c.4094G>T (p.Trp1365Leu) c.4046G>T (p.Trp1349Leu) c.3815G>T (p.Trp1272Leu) c.3716G>T (p.Trp1239Leu) c.2897G>T (p.Trp966Leu) n.4448G>T | |
| 13 | g.51934925C>G | CA388019491 | ATP7B | c.*1879G>C (n.*1879G>C) c.*2973G>C (n.*2973G>C) c.3608G>C (p.Trp1203Ser) c.4229G>C (p.Trp1410Ser) c.3896G>C (p.Trp1299Ser) c.3977G>C (p.Trp1326Ser) n.1552G>C c.3995G>C (p.Trp1332Ser) n.4368G>C n.1095G>C c.3164G>C (p.Trp1055Ser) c.2939G>C (p.Trp980Ser) c.4034G>C (p.Trp1345Ser) c.2007G>C c.*1330G>C (n.*1330G>C) n.4973G>C n.3574G>C c.4085G>C (p.Trp1362Ser) c.4133G>C (p.Trp1378Ser) c.4193G>C (p.Trp1398Ser) c.3743G>C (p.Trp1248Ser) c.2045G>C (p.Trp682Ser) c.1862G>C (p.Trp621Ser) c.4094G>C (p.Trp1365Ser) c.4046G>C (p.Trp1349Ser) c.3815G>C (p.Trp1272Ser) c.3716G>C (p.Trp1239Ser) c.2897G>C (p.Trp966Ser) n.4448G>C | |
| 13 | g.51934925C>T | CA388019493 | ATP7B | c.*1879G>A (n.*1879G>A) c.*2973G>A (n.*2973G>A) c.3608G>A (p.Trp1203Ter) c.4229G>A (p.Trp1410Ter) c.3896G>A (p.Trp1299Ter) c.3977G>A (p.Trp1326Ter) n.1552G>A c.3995G>A (p.Trp1332Ter) n.4368G>A n.1095G>A c.3164G>A (p.Trp1055Ter) c.2939G>A (p.Trp980Ter) c.4034G>A (p.Trp1345Ter) c.2007G>A c.*1330G>A (n.*1330G>A) n.4973G>A n.3574G>A c.4085G>A (p.Trp1362Ter) c.4133G>A (p.Trp1378Ter) c.4193G>A (p.Trp1398Ter) c.3743G>A (p.Trp1248Ter) c.2045G>A (p.Trp682Ter) c.1862G>A (p.Trp621Ter) c.4094G>A (p.Trp1365Ter) c.4046G>A (p.Trp1349Ter) c.3815G>A (p.Trp1272Ter) c.3716G>A (p.Trp1239Ter) c.2897G>A (p.Trp966Ter) n.4448G>A | ClinVar |
| 13 | g.51934926A= | CA2091550428 | ATP7B | c.*1878T= (n.*1878T=) c.*2972T= (n.*2972T=) c.3607T= (p.Trp1203=) c.4228T= (p.Trp1410=) c.3895T= (p.Trp1299=) c.3976T= (p.Trp1326=) n.1551T= c.3994T= (p.Trp1332=) n.4367T= n.1094T= c.3163T= (p.Trp1055=) c.2938T= (p.Trp980=) c.4033T= (p.Trp1345=) c.2006T= c.*1329T= (n.*1329T=) n.4972T= n.3573T= c.4084T= (p.Trp1362=) c.4132T= (p.Trp1378=) c.4192T= (p.Trp1398=) c.3742T= (p.Trp1248=) c.2044T= (p.Trp682=) c.1861T= (p.Trp621=) c.4093T= (p.Trp1365=) c.4045T= (p.Trp1349=) c.3814T= (p.Trp1272=) c.3715T= (p.Trp1239=) c.2896T= (p.Trp966=) n.4447T= | |
| 13 | g.51934926A>C | CA6988452 | ATP7B | c.*1878T>G (n.*1878T>G) c.*2972T>G (n.*2972T>G) c.3607T>G (p.Trp1203Gly) c.4228T>G (p.Trp1410Gly) c.3895T>G (p.Trp1299Gly) c.3976T>G (p.Trp1326Gly) n.1551T>G c.3994T>G (p.Trp1332Gly) n.4367T>G n.1094T>G c.3163T>G (p.Trp1055Gly) c.2938T>G (p.Trp980Gly) c.4033T>G (p.Trp1345Gly) c.2006T>G c.*1329T>G (n.*1329T>G) n.4972T>G n.3573T>G c.4084T>G (p.Trp1362Gly) c.4132T>G (p.Trp1378Gly) c.4192T>G (p.Trp1398Gly) c.3742T>G (p.Trp1248Gly) c.2044T>G (p.Trp682Gly) c.1861T>G (p.Trp621Gly) c.4093T>G (p.Trp1365Gly) c.4045T>G (p.Trp1349Gly) c.3814T>G (p.Trp1272Gly) c.3715T>G (p.Trp1239Gly) c.2896T>G (p.Trp966Gly) n.4447T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51934926A>G | CA388019498 | ATP7B | c.*1878T>C (n.*1878T>C) c.*2972T>C (n.*2972T>C) c.3607T>C (p.Trp1203Arg) c.4228T>C (p.Trp1410Arg) c.3895T>C (p.Trp1299Arg) c.3976T>C (p.Trp1326Arg) n.1551T>C c.3994T>C (p.Trp1332Arg) n.4367T>C n.1094T>C c.3163T>C (p.Trp1055Arg) c.2938T>C (p.Trp980Arg) c.4033T>C (p.Trp1345Arg) c.2006T>C c.*1329T>C (n.*1329T>C) n.4972T>C n.3573T>C c.4084T>C (p.Trp1362Arg) c.4132T>C (p.Trp1378Arg) c.4192T>C (p.Trp1398Arg) c.3742T>C (p.Trp1248Arg) c.2044T>C (p.Trp682Arg) c.1861T>C (p.Trp621Arg) c.4093T>C (p.Trp1365Arg) c.4045T>C (p.Trp1349Arg) c.3814T>C (p.Trp1272Arg) c.3715T>C (p.Trp1239Arg) c.2896T>C (p.Trp966Arg) n.4447T>C | dbSNP |
| 13 | g.51934926A>T | CA388019497 | ATP7B | c.*1878T>A (n.*1878T>A) c.*2972T>A (n.*2972T>A) c.3607T>A (p.Trp1203Arg) c.4228T>A (p.Trp1410Arg) c.3895T>A (p.Trp1299Arg) c.3976T>A (p.Trp1326Arg) n.1551T>A c.3994T>A (p.Trp1332Arg) n.4367T>A n.1094T>A c.3163T>A (p.Trp1055Arg) c.2938T>A (p.Trp980Arg) c.4033T>A (p.Trp1345Arg) c.2006T>A c.*1329T>A (n.*1329T>A) n.4972T>A n.3573T>A c.4084T>A (p.Trp1362Arg) c.4132T>A (p.Trp1378Arg) c.4192T>A (p.Trp1398Arg) c.3742T>A (p.Trp1248Arg) c.2044T>A (p.Trp682Arg) c.1861T>A (p.Trp621Arg) c.4093T>A (p.Trp1365Arg) c.4045T>A (p.Trp1349Arg) c.3814T>A (p.Trp1272Arg) c.3715T>A (p.Trp1239Arg) c.2896T>A (p.Trp966Arg) n.4447T>A | |
| 13 | g.51934927C>A | CA250071648 | ATP7B | c.*1877G>T (n.*1877G>T) c.*2971G>T (n.*2971G>T) c.3606G>T (p.Arg1202Ser) c.4227G>T (p.Arg1409Ser) c.3894G>T (p.Arg1298Ser) c.3975G>T (p.Arg1325Ser) n.1550G>T c.3993G>T (p.Arg1331Ser) n.4366G>T n.1093G>T c.3162G>T (p.Arg1054Ser) c.2937G>T (p.Arg979Ser) c.4032G>T (p.Arg1344Ser) c.2005G>T c.*1328G>T (n.*1328G>T) n.4971G>T n.3572G>T c.4083G>T (p.Arg1361Ser) c.4131G>T (p.Arg1377Ser) c.4191G>T (p.Arg1397Ser) c.3741G>T (p.Arg1247Ser) c.2043G>T (p.Arg681Ser) c.1860G>T (p.Arg620Ser) c.4092G>T (p.Arg1364Ser) c.4044G>T (p.Arg1348Ser) c.3813G>T (p.Arg1271Ser) c.3714G>T (p.Arg1238Ser) c.2895G>T (p.Arg965Ser) n.4446G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.51934927C= | CA2091550431 | ATP7B | c.*1877G= (n.*1877G=) c.*2971G= (n.*2971G=) c.3606G= (p.Arg1202=) c.4227G= (p.Arg1409=) c.3894G= (p.Arg1298=) c.3975G= (p.Arg1325=) n.1550G= c.3993G= (p.Arg1331=) n.4366G= n.1093G= c.3162G= (p.Arg1054=) c.2937G= (p.Arg979=) c.4032G= (p.Arg1344=) c.2005G= c.*1328G= (n.*1328G=) n.4971G= n.3572G= c.4083G= (p.Arg1361=) c.4131G= (p.Arg1377=) c.4191G= (p.Arg1397=) c.3741G= (p.Arg1247=) c.2043G= (p.Arg681=) c.1860G= (p.Arg620=) c.4092G= (p.Arg1364=) c.4044G= (p.Arg1348=) c.3813G= (p.Arg1271=) c.3714G= (p.Arg1238=) c.2895G= (p.Arg965=) n.4446G= | |
| 13 | g.51934927C>G | CA388019502 | ATP7B | c.*1877G>C (n.*1877G>C) c.*2971G>C (n.*2971G>C) c.3606G>C (p.Arg1202Ser) c.4227G>C (p.Arg1409Ser) c.3894G>C (p.Arg1298Ser) c.3975G>C (p.Arg1325Ser) n.1550G>C c.3993G>C (p.Arg1331Ser) n.4366G>C n.1093G>C c.3162G>C (p.Arg1054Ser) c.2937G>C (p.Arg979Ser) c.4032G>C (p.Arg1344Ser) c.2005G>C c.*1328G>C (n.*1328G>C) n.4971G>C n.3572G>C c.4083G>C (p.Arg1361Ser) c.4131G>C (p.Arg1377Ser) c.4191G>C (p.Arg1397Ser) c.3741G>C (p.Arg1247Ser) c.2043G>C (p.Arg681Ser) c.1860G>C (p.Arg620Ser) c.4092G>C (p.Arg1364Ser) c.4044G>C (p.Arg1348Ser) c.3813G>C (p.Arg1271Ser) c.3714G>C (p.Arg1238Ser) c.2895G>C (p.Arg965Ser) n.4446G>C | |
| 13 | g.51934927C>T | CA484024183 | ATP7B | c.*1877G>A (n.*1877G>A) c.*2971G>A (n.*2971G>A) c.3606G>A (p.Arg1202=) c.4227G>A (p.Arg1409=) c.3894G>A (p.Arg1298=) c.3975G>A (p.Arg1325=) n.1550G>A c.3993G>A (p.Arg1331=) n.4366G>A n.1093G>A c.3162G>A (p.Arg1054=) c.2937G>A (p.Arg979=) c.4032G>A (p.Arg1344=) c.2005G>A c.*1328G>A (n.*1328G>A) n.4971G>A n.3572G>A c.4083G>A (p.Arg1361=) c.4131G>A (p.Arg1377=) c.4191G>A (p.Arg1397=) c.3741G>A (p.Arg1247=) c.2043G>A (p.Arg681=) c.1860G>A (p.Arg620=) c.4092G>A (p.Arg1364=) c.4044G>A (p.Arg1348=) c.3813G>A (p.Arg1271=) c.3714G>A (p.Arg1238=) c.2895G>A (p.Arg965=) n.4446G>A | gnomAD v4 |
| 13 | g.51934928C>A | CA388019504 | ATP7B | c.*1876G>T (n.*1876G>T) c.*2970G>T (n.*2970G>T) c.3605G>T (p.Arg1202Met) c.4226G>T (p.Arg1409Met) c.3893G>T (p.Arg1298Met) c.3974G>T (p.Arg1325Met) n.1549G>T c.3992G>T (p.Arg1331Met) n.4365G>T n.1092G>T c.3161G>T (p.Arg1054Met) c.2936G>T (p.Arg979Met) c.4031G>T (p.Arg1344Met) c.2004G>T c.*1327G>T (n.*1327G>T) n.4970G>T n.3571G>T c.4082G>T (p.Arg1361Met) c.4130G>T (p.Arg1377Met) c.4190G>T (p.Arg1397Met) c.3740G>T (p.Arg1247Met) c.2042G>T (p.Arg681Met) c.1859G>T (p.Arg620Met) c.4091G>T (p.Arg1364Met) c.4043G>T (p.Arg1348Met) c.3812G>T (p.Arg1271Met) c.3713G>T (p.Arg1238Met) c.2894G>T (p.Arg965Met) n.4445G>T | |
| 13 | g.51934928C>G | CA388019506 | ATP7B | c.*1876G>C (n.*1876G>C) c.*2970G>C (n.*2970G>C) c.3605G>C (p.Arg1202Thr) c.4226G>C (p.Arg1409Thr) c.3893G>C (p.Arg1298Thr) c.3974G>C (p.Arg1325Thr) n.1549G>C c.3992G>C (p.Arg1331Thr) n.4365G>C n.1092G>C c.3161G>C (p.Arg1054Thr) c.2936G>C (p.Arg979Thr) c.4031G>C (p.Arg1344Thr) c.2004G>C c.*1327G>C (n.*1327G>C) n.4970G>C n.3571G>C c.4082G>C (p.Arg1361Thr) c.4130G>C (p.Arg1377Thr) c.4190G>C (p.Arg1397Thr) c.3740G>C (p.Arg1247Thr) c.2042G>C (p.Arg681Thr) c.1859G>C (p.Arg620Thr) c.4091G>C (p.Arg1364Thr) c.4043G>C (p.Arg1348Thr) c.3812G>C (p.Arg1271Thr) c.3713G>C (p.Arg1238Thr) c.2894G>C (p.Arg965Thr) n.4445G>C | gnomAD v4 |
| 13 | g.51934928C>T | CA388019509 | ATP7B | c.*1876G>A (n.*1876G>A) c.*2970G>A (n.*2970G>A) c.3605G>A (p.Arg1202Lys) c.4226G>A (p.Arg1409Lys) c.3893G>A (p.Arg1298Lys) c.3974G>A (p.Arg1325Lys) n.1549G>A c.3992G>A (p.Arg1331Lys) n.4365G>A n.1092G>A c.3161G>A (p.Arg1054Lys) c.2936G>A (p.Arg979Lys) c.4031G>A (p.Arg1344Lys) c.2004G>A c.*1327G>A (n.*1327G>A) n.4970G>A n.3571G>A c.4082G>A (p.Arg1361Lys) c.4130G>A (p.Arg1377Lys) c.4190G>A (p.Arg1397Lys) c.3740G>A (p.Arg1247Lys) c.2042G>A (p.Arg681Lys) c.1859G>A (p.Arg620Lys) c.4091G>A (p.Arg1364Lys) c.4043G>A (p.Arg1348Lys) c.3812G>A (p.Arg1271Lys) c.3713G>A (p.Arg1238Lys) c.2894G>A (p.Arg965Lys) n.4445G>A | |
| 13 | g.51934929T>A | CA388019512 | ATP7B | c.*1875A>T (n.*1875A>T) c.*2969A>T (n.*2969A>T) c.3604A>T (p.Arg1202Trp) c.4225A>T (p.Arg1409Trp) c.3892A>T (p.Arg1298Trp) c.3973A>T (p.Arg1325Trp) n.1548A>T c.3991A>T (p.Arg1331Trp) n.4364A>T n.1091A>T c.3160A>T (p.Arg1054Trp) c.2935A>T (p.Arg979Trp) c.4030A>T (p.Arg1344Trp) c.2003A>T c.*1326A>T (n.*1326A>T) n.4969A>T n.3570A>T c.4081A>T (p.Arg1361Trp) c.4129A>T (p.Arg1377Trp) c.4189A>T (p.Arg1397Trp) c.3739A>T (p.Arg1247Trp) c.2041A>T (p.Arg681Trp) c.1858A>T (p.Arg620Trp) c.4090A>T (p.Arg1364Trp) c.4042A>T (p.Arg1348Trp) c.3811A>T (p.Arg1271Trp) c.3712A>T (p.Arg1238Trp) c.2893A>T (p.Arg965Trp) n.4444A>T | |
| 13 | g.51934929T>C | CA388019513 | ATP7B | c.*1875A>G (n.*1875A>G) c.*2969A>G (n.*2969A>G) c.3604A>G (p.Arg1202Gly) c.4225A>G (p.Arg1409Gly) c.3892A>G (p.Arg1298Gly) c.3973A>G (p.Arg1325Gly) n.1548A>G c.3991A>G (p.Arg1331Gly) n.4364A>G n.1091A>G c.3160A>G (p.Arg1054Gly) c.2935A>G (p.Arg979Gly) c.4030A>G (p.Arg1344Gly) c.2003A>G c.*1326A>G (n.*1326A>G) n.4969A>G n.3570A>G c.4081A>G (p.Arg1361Gly) c.4129A>G (p.Arg1377Gly) c.4189A>G (p.Arg1397Gly) c.3739A>G (p.Arg1247Gly) c.2041A>G (p.Arg681Gly) c.1858A>G (p.Arg620Gly) c.4090A>G (p.Arg1364Gly) c.4042A>G (p.Arg1348Gly) c.3811A>G (p.Arg1271Gly) c.3712A>G (p.Arg1238Gly) c.2893A>G (p.Arg965Gly) n.4444A>G | |
| 13 | g.51934929T>G | CA6988453 | ATP7B | c.*1875A>C (n.*1875A>C) c.*2969A>C (n.*2969A>C) c.3604A>C (p.Arg1202=) c.4225A>C (p.Arg1409=) c.3892A>C (p.Arg1298=) c.3973A>C (p.Arg1325=) n.1548A>C c.3991A>C (p.Arg1331=) n.4364A>C n.1091A>C c.3160A>C (p.Arg1054=) c.2935A>C (p.Arg979=) c.4030A>C (p.Arg1344=) c.2003A>C c.*1326A>C (n.*1326A>C) n.4969A>C n.3570A>C c.4081A>C (p.Arg1361=) c.4129A>C (p.Arg1377=) c.4189A>C (p.Arg1397=) c.3739A>C (p.Arg1247=) c.2041A>C (p.Arg681=) c.1858A>C (p.Arg620=) c.4090A>C (p.Arg1364=) c.4042A>C (p.Arg1348=) c.3811A>C (p.Arg1271=) c.3712A>C (p.Arg1238=) c.2893A>C (p.Arg965=) n.4444A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51934929T= | CA2091550436 | ATP7B | c.*1875A= (n.*1875A=) c.*2969A= (n.*2969A=) c.3604A= (p.Arg1202=) c.4225A= (p.Arg1409=) c.3892A= (p.Arg1298=) c.3973A= (p.Arg1325=) n.1548A= c.3991A= (p.Arg1331=) n.4364A= n.1091A= c.3160A= (p.Arg1054=) c.2935A= (p.Arg979=) c.4030A= (p.Arg1344=) c.2003A= c.*1326A= (n.*1326A=) n.4969A= n.3570A= c.4081A= (p.Arg1361=) c.4129A= (p.Arg1377=) c.4189A= (p.Arg1397=) c.3739A= (p.Arg1247=) c.2041A= (p.Arg681=) c.1858A= (p.Arg620=) c.4090A= (p.Arg1364=) c.4042A= (p.Arg1348=) c.3811A= (p.Arg1271=) c.3712A= (p.Arg1238=) c.2893A= (p.Arg965=) n.4444A= |