UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51939095_51939101delinsTCAGAAC | CA2091556745 | ATP7B | c.*1299_*1305delinsGTTCTGA (n.*1299_*1305delinsGTTCTGA) c.*2393_*2399delinsGTTCTGA (n.*2393_*2399delinsGTTCTGA) c.3028_3034delinsGTTCTGA (p.Val1010=) c.3649_3655delinsGTTCTGA (p.Val1217=) c.3316_3322delinsGTTCTGA (p.Val1106=) c.3397_3403delinsGTTCTGA (p.Val1133=) n.890_896delinsGTTCTGA c.3415_3421delinsGTTCTGA (p.Val1139=) n.3788_3794delinsGTTCTGA n.515_521delinsGTTCTGA c.2584_2590delinsGTTCTGA (p.Val862=) c.2359_2365delinsGTTCTGA (p.Val787=) c.3454_3460delinsGTTCTGA (p.Val1152=) c.1427_1433delinsGTTCTGA c.*750_*756delinsGTTCTGA (n.*750_*756delinsGTTCTGA) n.4393_4399delinsGTTCTGA n.2994_3000delinsGTTCTGA c.3505_3511delinsGTTCTGA (p.Val1169=) c.3553_3559delinsGTTCTGA (p.Val1185=) c.3613_3619delinsGTTCTGA (p.Val1205=) c.3163_3169delinsGTTCTGA (p.Val1055=) c.1465_1471delinsGTTCTGA (p.Val489=) c.1282_1288delinsGTTCTGA (p.Val428=) c.3514_3520delinsGTTCTGA (p.Val1172=) c.3466_3472delinsGTTCTGA (p.Val1156=) c.3235_3241delinsGTTCTGA (p.Val1079=) c.3136_3142delinsGTTCTGA (p.Val1046=) c.2317_2323delinsGTTCTGA (p.Val773=) n.3868_3874delinsGTTCTGA | |
| 13 | g.51939098_51939103del | CA274259 | ATP7B | c.*1299_*1304del (n.*1299_*1304del) c.*2393_*2398del (n.*2393_*2398del) c.3028_3033del (p.Val1010_Leu1011del) c.3649_3654del (p.Val1217_Leu1218del) c.3316_3321del (p.Val1106_Leu1107del) c.3397_3402del (p.Val1133_Leu1134del) n.890_895del c.3415_3420del (p.Val1139_Leu1140del) n.3788_3793del n.515_520del c.2584_2589del (p.Val862_Leu863del) c.2359_2364del (p.Val787_Leu788del) c.3454_3459del (p.Val1152_Leu1153del) c.1427_1432del c.*750_*755del (n.*750_*755del) n.4393_4398del n.2994_2999del c.3505_3510del (p.Val1169_Leu1170del) c.3553_3558del (p.Val1185_Leu1186del) c.3613_3618del (p.Val1205_Leu1206del) c.3163_3168del (p.Val1055_Leu1056del) c.1465_1470del (p.Val489_Leu490del) c.1282_1287del (p.Val428_Leu429del) c.3514_3519del (p.Val1172_Leu1173del) c.3466_3471del (p.Val1156_Leu1157del) c.3235_3240del (p.Val1079_Leu1080del) c.3136_3141del (p.Val1046_Leu1047del) c.2317_2322del (p.Val773_Leu774del) n.3868_3873del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51939098G>A | CA250075079 | ATP7B | c.*1302C>T (n.*1302C>T) c.*2396C>T (n.*2396C>T) c.3031C>T (p.Leu1011=) c.3652C>T (p.Leu1218=) c.3319C>T (p.Leu1107=) c.3400C>T (p.Leu1134=) n.893C>T c.3418C>T (p.Leu1140=) n.3791C>T n.518C>T c.2587C>T (p.Leu863=) c.2362C>T (p.Leu788=) c.3457C>T (p.Leu1153=) c.1430C>T c.*753C>T (n.*753C>T) n.4396C>T n.2997C>T c.3508C>T (p.Leu1170=) c.3556C>T (p.Leu1186=) c.3616C>T (p.Leu1206=) c.3166C>T (p.Leu1056=) c.1468C>T (p.Leu490=) c.1285C>T (p.Leu429=) c.3517C>T (p.Leu1173=) c.3469C>T (p.Leu1157=) c.3238C>T (p.Leu1080=) c.3139C>T (p.Leu1047=) c.2320C>T (p.Leu774=) n.3871C>T | dbSNP gnomAD v4 |
| 13 | g.51939098G>C | CA388023907 | ATP7B | c.*1302C>G (n.*1302C>G) c.*2396C>G (n.*2396C>G) c.3031C>G (p.Leu1011Val) c.3652C>G (p.Leu1218Val) c.3319C>G (p.Leu1107Val) c.3400C>G (p.Leu1134Val) n.893C>G c.3418C>G (p.Leu1140Val) n.3791C>G n.518C>G c.2587C>G (p.Leu863Val) c.2362C>G (p.Leu788Val) c.3457C>G (p.Leu1153Val) c.1430C>G c.*753C>G (n.*753C>G) n.4396C>G n.2997C>G c.3508C>G (p.Leu1170Val) c.3556C>G (p.Leu1186Val) c.3616C>G (p.Leu1206Val) c.3166C>G (p.Leu1056Val) c.1468C>G (p.Leu490Val) c.1285C>G (p.Leu429Val) c.3517C>G (p.Leu1173Val) c.3469C>G (p.Leu1157Val) c.3238C>G (p.Leu1080Val) c.3139C>G (p.Leu1047Val) c.2320C>G (p.Leu774Val) n.3871C>G | COSMIC |
| 13 | g.51939098G= | CA2091556758 | ATP7B | c.*1302C= (n.*1302C=) c.*2396C= (n.*2396C=) c.3031C= (p.Leu1011=) c.3652C= (p.Leu1218=) c.3319C= (p.Leu1107=) c.3400C= (p.Leu1134=) n.893C= c.3418C= (p.Leu1140=) n.3791C= n.518C= c.2587C= (p.Leu863=) c.2362C= (p.Leu788=) c.3457C= (p.Leu1153=) c.1430C= c.*753C= (n.*753C=) n.4396C= n.2997C= c.3508C= (p.Leu1170=) c.3556C= (p.Leu1186=) c.3616C= (p.Leu1206=) c.3166C= (p.Leu1056=) c.1468C= (p.Leu490=) c.1285C= (p.Leu429=) c.3517C= (p.Leu1173=) c.3469C= (p.Leu1157=) c.3238C= (p.Leu1080=) c.3139C= (p.Leu1047=) c.2320C= (p.Leu774=) n.3871C= | |
| 13 | g.51939098G>T | CA388023908 | ATP7B | c.*1302C>A (n.*1302C>A) c.*2396C>A (n.*2396C>A) c.3031C>A (p.Leu1011Met) c.3652C>A (p.Leu1218Met) c.3319C>A (p.Leu1107Met) c.3400C>A (p.Leu1134Met) n.893C>A c.3418C>A (p.Leu1140Met) n.3791C>A n.518C>A c.2587C>A (p.Leu863Met) c.2362C>A (p.Leu788Met) c.3457C>A (p.Leu1153Met) c.1430C>A c.*753C>A (n.*753C>A) n.4396C>A n.2997C>A c.3508C>A (p.Leu1170Met) c.3556C>A (p.Leu1186Met) c.3616C>A (p.Leu1206Met) c.3166C>A (p.Leu1056Met) c.1468C>A (p.Leu490Met) c.1285C>A (p.Leu429Met) c.3517C>A (p.Leu1173Met) c.3469C>A (p.Leu1157Met) c.3238C>A (p.Leu1080Met) c.3139C>A (p.Leu1047Met) c.2320C>A (p.Leu774Met) n.3871C>A | |
| 13 | g.51939099A>C | CA483893741 | ATP7B | c.*1301T>G (n.*1301T>G) c.*2395T>G (n.*2395T>G) c.3030T>G (p.Val1010=) c.3651T>G (p.Val1217=) c.3318T>G (p.Val1106=) c.3399T>G (p.Val1133=) n.892T>G c.3417T>G (p.Val1139=) n.3790T>G n.517T>G c.2586T>G (p.Val862=) c.2361T>G (p.Val787=) c.3456T>G (p.Val1152=) c.1429T>G c.*752T>G (n.*752T>G) n.4395T>G n.2996T>G c.3507T>G (p.Val1169=) c.3555T>G (p.Val1185=) c.3615T>G (p.Val1205=) c.3165T>G (p.Val1055=) c.1467T>G (p.Val489=) c.1284T>G (p.Val428=) c.3516T>G (p.Val1172=) c.3468T>G (p.Val1156=) c.3237T>G (p.Val1079=) c.3138T>G (p.Val1046=) c.2319T>G (p.Val773=) n.3870T>G | |
| 13 | g.51939099A>G | CA483893743 | ATP7B | c.*1301T>C (n.*1301T>C) c.*2395T>C (n.*2395T>C) c.3030T>C (p.Val1010=) c.3651T>C (p.Val1217=) c.3318T>C (p.Val1106=) c.3399T>C (p.Val1133=) n.892T>C c.3417T>C (p.Val1139=) n.3790T>C n.517T>C c.2586T>C (p.Val862=) c.2361T>C (p.Val787=) c.3456T>C (p.Val1152=) c.1429T>C c.*752T>C (n.*752T>C) n.4395T>C n.2996T>C c.3507T>C (p.Val1169=) c.3555T>C (p.Val1185=) c.3615T>C (p.Val1205=) c.3165T>C (p.Val1055=) c.1467T>C (p.Val489=) c.1284T>C (p.Val428=) c.3516T>C (p.Val1172=) c.3468T>C (p.Val1156=) c.3237T>C (p.Val1079=) c.3138T>C (p.Val1046=) c.2319T>C (p.Val773=) n.3870T>C | |
| 13 | g.51939099A>T | CA483893740 | ATP7B | c.*1301T>A (n.*1301T>A) c.*2395T>A (n.*2395T>A) c.3030T>A (p.Val1010=) c.3651T>A (p.Val1217=) c.3318T>A (p.Val1106=) c.3399T>A (p.Val1133=) n.892T>A c.3417T>A (p.Val1139=) n.3790T>A n.517T>A c.2586T>A (p.Val862=) c.2361T>A (p.Val787=) c.3456T>A (p.Val1152=) c.1429T>A c.*752T>A (n.*752T>A) n.4395T>A n.2996T>A c.3507T>A (p.Val1169=) c.3555T>A (p.Val1185=) c.3615T>A (p.Val1205=) c.3165T>A (p.Val1055=) c.1467T>A (p.Val489=) c.1284T>A (p.Val428=) c.3516T>A (p.Val1172=) c.3468T>A (p.Val1156=) c.3237T>A (p.Val1079=) c.3138T>A (p.Val1046=) c.2319T>A (p.Val773=) n.3870T>A | gnomAD v4 |
| 13 | g.51939100A= | CA2091556766 | ATP7B | c.*1300T= (n.*1300T=) c.*2394T= (n.*2394T=) c.3029T= (p.Val1010=) c.3650T= (p.Val1217=) c.3317T= (p.Val1106=) c.3398T= (p.Val1133=) n.891T= c.3416T= (p.Val1139=) n.3789T= n.516T= c.2585T= (p.Val862=) c.2360T= (p.Val787=) c.3455T= (p.Val1152=) c.1428T= c.*751T= (n.*751T=) n.4394T= n.2995T= c.3506T= (p.Val1169=) c.3554T= (p.Val1185=) c.3614T= (p.Val1205=) c.3164T= (p.Val1055=) c.1466T= (p.Val489=) c.1283T= (p.Val428=) c.3515T= (p.Val1172=) c.3467T= (p.Val1156=) c.3236T= (p.Val1079=) c.3137T= (p.Val1046=) c.2318T= (p.Val773=) n.3869T= | |
| 13 | g.51939100A>C | CA388023918 | ATP7B | c.*1300T>G (n.*1300T>G) c.*2394T>G (n.*2394T>G) c.3029T>G (p.Val1010Gly) c.3650T>G (p.Val1217Gly) c.3317T>G (p.Val1106Gly) c.3398T>G (p.Val1133Gly) n.891T>G c.3416T>G (p.Val1139Gly) n.3789T>G n.516T>G c.2585T>G (p.Val862Gly) c.2360T>G (p.Val787Gly) c.3455T>G (p.Val1152Gly) c.1428T>G c.*751T>G (n.*751T>G) n.4394T>G n.2995T>G c.3506T>G (p.Val1169Gly) c.3554T>G (p.Val1185Gly) c.3614T>G (p.Val1205Gly) c.3164T>G (p.Val1055Gly) c.1466T>G (p.Val489Gly) c.1283T>G (p.Val428Gly) c.3515T>G (p.Val1172Gly) c.3467T>G (p.Val1156Gly) c.3236T>G (p.Val1079Gly) c.3137T>G (p.Val1046Gly) c.2318T>G (p.Val773Gly) n.3869T>G | |
| 13 | g.51939100A>G | CA388023913 | ATP7B | c.*1300T>C (n.*1300T>C) c.*2394T>C (n.*2394T>C) c.3029T>C (p.Val1010Ala) c.3650T>C (p.Val1217Ala) c.3317T>C (p.Val1106Ala) c.3398T>C (p.Val1133Ala) n.891T>C c.3416T>C (p.Val1139Ala) n.3789T>C n.516T>C c.2585T>C (p.Val862Ala) c.2360T>C (p.Val787Ala) c.3455T>C (p.Val1152Ala) c.1428T>C c.*751T>C (n.*751T>C) n.4394T>C n.2995T>C c.3506T>C (p.Val1169Ala) c.3554T>C (p.Val1185Ala) c.3614T>C (p.Val1205Ala) c.3164T>C (p.Val1055Ala) c.1466T>C (p.Val489Ala) c.1283T>C (p.Val428Ala) c.3515T>C (p.Val1172Ala) c.3467T>C (p.Val1156Ala) c.3236T>C (p.Val1079Ala) c.3137T>C (p.Val1046Ala) c.2318T>C (p.Val773Ala) n.3869T>C | |
| 13 | g.51939100A>T | CA388023911 | ATP7B | c.*1300T>A (n.*1300T>A) c.*2394T>A (n.*2394T>A) c.3029T>A (p.Val1010Asp) c.3650T>A (p.Val1217Asp) c.3317T>A (p.Val1106Asp) c.3398T>A (p.Val1133Asp) n.891T>A c.3416T>A (p.Val1139Asp) n.3789T>A n.516T>A c.2585T>A (p.Val862Asp) c.2360T>A (p.Val787Asp) c.3455T>A (p.Val1152Asp) c.1428T>A c.*751T>A (n.*751T>A) n.4394T>A n.2995T>A c.3506T>A (p.Val1169Asp) c.3554T>A (p.Val1185Asp) c.3614T>A (p.Val1205Asp) c.3164T>A (p.Val1055Asp) c.1466T>A (p.Val489Asp) c.1283T>A (p.Val428Asp) c.3515T>A (p.Val1172Asp) c.3467T>A (p.Val1156Asp) c.3236T>A (p.Val1079Asp) c.3137T>A (p.Val1046Asp) c.2318T>A (p.Val773Asp) n.3869T>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51939101C>A | CA388023927 | ATP7B | c.*1299G>T (n.*1299G>T) c.*2393G>T (n.*2393G>T) c.3028G>T (p.Val1010Phe) c.3649G>T (p.Val1217Phe) c.3316G>T (p.Val1106Phe) c.3397G>T (p.Val1133Phe) n.890G>T c.3415G>T (p.Val1139Phe) n.3788G>T n.515G>T c.2584G>T (p.Val862Phe) c.2359G>T (p.Val787Phe) c.3454G>T (p.Val1152Phe) c.1427G>T c.*750G>T (n.*750G>T) n.4393G>T n.2994G>T c.3505G>T (p.Val1169Phe) c.3553G>T (p.Val1185Phe) c.3613G>T (p.Val1205Phe) c.3163G>T (p.Val1055Phe) c.1465G>T (p.Val489Phe) c.1282G>T (p.Val428Phe) c.3514G>T (p.Val1172Phe) c.3466G>T (p.Val1156Phe) c.3235G>T (p.Val1079Phe) c.3136G>T (p.Val1046Phe) c.2317G>T (p.Val773Phe) n.3868G>T | |
| 13 | g.51939101C>G | CA388023935 | ATP7B | c.*1299G>C (n.*1299G>C) c.*2393G>C (n.*2393G>C) c.3028G>C (p.Val1010Leu) c.3649G>C (p.Val1217Leu) c.3316G>C (p.Val1106Leu) c.3397G>C (p.Val1133Leu) n.890G>C c.3415G>C (p.Val1139Leu) n.3788G>C n.515G>C c.2584G>C (p.Val862Leu) c.2359G>C (p.Val787Leu) c.3454G>C (p.Val1152Leu) c.1427G>C c.*750G>C (n.*750G>C) n.4393G>C n.2994G>C c.3505G>C (p.Val1169Leu) c.3553G>C (p.Val1185Leu) c.3613G>C (p.Val1205Leu) c.3163G>C (p.Val1055Leu) c.1465G>C (p.Val489Leu) c.1282G>C (p.Val428Leu) c.3514G>C (p.Val1172Leu) c.3466G>C (p.Val1156Leu) c.3235G>C (p.Val1079Leu) c.3136G>C (p.Val1046Leu) c.2317G>C (p.Val773Leu) n.3868G>C | |
| 13 | g.51939101C>T | CA388023936 | ATP7B | c.*1299G>A (n.*1299G>A) c.*2393G>A (n.*2393G>A) c.3028G>A (p.Val1010Ile) c.3649G>A (p.Val1217Ile) c.3316G>A (p.Val1106Ile) c.3397G>A (p.Val1133Ile) n.890G>A c.3415G>A (p.Val1139Ile) n.3788G>A n.515G>A c.2584G>A (p.Val862Ile) c.2359G>A (p.Val787Ile) c.3454G>A (p.Val1152Ile) c.1427G>A c.*750G>A (n.*750G>A) n.4393G>A n.2994G>A c.3505G>A (p.Val1169Ile) c.3553G>A (p.Val1185Ile) c.3613G>A (p.Val1205Ile) c.3163G>A (p.Val1055Ile) c.1465G>A (p.Val489Ile) c.1282G>A (p.Val428Ile) c.3514G>A (p.Val1172Ile) c.3466G>A (p.Val1156Ile) c.3235G>A (p.Val1079Ile) c.3136G>A (p.Val1046Ile) c.2317G>A (p.Val773Ile) n.3868G>A | |
| 13 | g.51939102del | CA2623119629 | ATP7B | c.*1299del (n.*1299del) c.*2393del (n.*2393del) c.3028del (p.Val1010PhefsTer2) c.3649del (p.Val1217PhefsTer2) c.3316del (p.Val1106PhefsTer2) c.3397del (p.Val1133PhefsTer2) n.890del c.3415del (p.Val1139PhefsTer2) n.3788del n.515del c.2584del (p.Val862PhefsTer2) c.2359del (p.Val787PhefsTer2) c.3454del (p.Val1152PhefsTer2) c.1427del c.*750del (n.*750del) n.4393del n.2994del c.3505del (p.Val1169PhefsTer2) c.3553del (p.Val1185PhefsTer2) c.3613del (p.Val1205PhefsTer2) c.3163del (p.Val1055PhefsTer2) c.1465del (p.Val489PhefsTer2) c.1282del (p.Val428PhefsTer2) c.3514del (p.Val1172PhefsTer2) c.3466del (p.Val1156PhefsTer2) c.3235del (p.Val1079PhefsTer2) c.3136del (p.Val1046PhefsTer2) c.2317del (p.Val773PhefsTer2) n.3868del | gnomAD v4 |
| 13 | g.51939102C>A | CA483893749 | ATP7B | c.*1298G>T (n.*1298G>T) c.*2392G>T (n.*2392G>T) c.3027G>T (p.Val1009=) c.3648G>T (p.Val1216=) c.3315G>T (p.Val1105=) c.3396G>T (p.Val1132=) n.889G>T c.3414G>T (p.Val1138=) n.3787G>T n.514G>T c.2583G>T (p.Val861=) c.2358G>T (p.Val786=) c.3453G>T (p.Val1151=) c.1426G>T c.*749G>T (n.*749G>T) n.4392G>T n.2993G>T c.3504G>T (p.Val1168=) c.3552G>T (p.Val1184=) c.3612G>T (p.Val1204=) c.3162G>T (p.Val1054=) c.1464G>T (p.Val488=) c.1281G>T (p.Val427=) c.3513G>T (p.Val1171=) c.3465G>T (p.Val1155=) c.3234G>T (p.Val1078=) c.3135G>T (p.Val1045=) c.2316G>T (p.Val772=) n.3867G>T | |
| 13 | g.51939102C>G | CA483893750 | ATP7B | c.*1298G>C (n.*1298G>C) c.*2392G>C (n.*2392G>C) c.3027G>C (p.Val1009=) c.3648G>C (p.Val1216=) c.3315G>C (p.Val1105=) c.3396G>C (p.Val1132=) n.889G>C c.3414G>C (p.Val1138=) n.3787G>C n.514G>C c.2583G>C (p.Val861=) c.2358G>C (p.Val786=) c.3453G>C (p.Val1151=) c.1426G>C c.*749G>C (n.*749G>C) n.4392G>C n.2993G>C c.3504G>C (p.Val1168=) c.3552G>C (p.Val1184=) c.3612G>C (p.Val1204=) c.3162G>C (p.Val1054=) c.1464G>C (p.Val488=) c.1281G>C (p.Val427=) c.3513G>C (p.Val1171=) c.3465G>C (p.Val1155=) c.3234G>C (p.Val1078=) c.3135G>C (p.Val1045=) c.2316G>C (p.Val772=) n.3867G>C | |
| 13 | g.51939102C>T | CA483893751 | ATP7B | c.*1298G>A (n.*1298G>A) c.*2392G>A (n.*2392G>A) c.3027G>A (p.Val1009=) c.3648G>A (p.Val1216=) c.3315G>A (p.Val1105=) c.3396G>A (p.Val1132=) n.889G>A c.3414G>A (p.Val1138=) n.3787G>A n.514G>A c.2583G>A (p.Val861=) c.2358G>A (p.Val786=) c.3453G>A (p.Val1151=) c.1426G>A c.*749G>A (n.*749G>A) n.4392G>A n.2993G>A c.3504G>A (p.Val1168=) c.3552G>A (p.Val1184=) c.3612G>A (p.Val1204=) c.3162G>A (p.Val1054=) c.1464G>A (p.Val488=) c.1281G>A (p.Val427=) c.3513G>A (p.Val1171=) c.3465G>A (p.Val1155=) c.3234G>A (p.Val1078=) c.3135G>A (p.Val1045=) c.2316G>A (p.Val772=) n.3867G>A | ClinVar gnomAD v4 |
| 13 | g.51939104_51939124del | CA2739277679 | ATP7B | c.*1278_*1298del (n.*1278_*1298del) c.*2372_*2392del (n.*2372_*2392del) c.3007_3027del (p.Gln1003_Val1009del) c.3628_3648del (p.Gln1210_Val1216del) c.3295_3315del (p.Gln1099_Val1105del) c.3376_3396del (p.Gln1126_Val1132del) n.869_889del c.3394_3414del (p.Gln1132_Val1138del) n.3767_3787del n.494_514del c.2563_2583del (p.Gln855_Val861del) c.2338_2358del (p.Gln780_Val786del) c.3433_3453del (p.Gln1145_Val1151del) c.1406_1426del c.*729_*749del (n.*729_*749del) n.4372_4392del n.2973_2993del c.3484_3504del (p.Gln1162_Val1168del) c.3532_3552del (p.Gln1178_Val1184del) c.3592_3612del (p.Gln1198_Val1204del) c.3142_3162del (p.Gln1048_Val1054del) c.1444_1464del (p.Gln482_Val488del) c.1261_1281del (p.Gln421_Val427del) c.3493_3513del (p.Gln1165_Val1171del) c.3445_3465del (p.Gln1149_Val1155del) c.3214_3234del (p.Gln1072_Val1078del) c.3115_3135del (p.Gln1039_Val1045del) c.2296_2316del (p.Gln766_Val772del) n.3847_3867del | ClinVar |
| 13 | g.51939103A>C | CA388023941 | ATP7B | c.*1297T>G (n.*1297T>G) c.*2391T>G (n.*2391T>G) c.3026T>G (p.Val1009Gly) c.3647T>G (p.Val1216Gly) c.3314T>G (p.Val1105Gly) c.3395T>G (p.Val1132Gly) n.888T>G c.3413T>G (p.Val1138Gly) n.3786T>G n.513T>G c.2582T>G (p.Val861Gly) c.2357T>G (p.Val786Gly) c.3452T>G (p.Val1151Gly) c.1425T>G c.*748T>G (n.*748T>G) n.4391T>G n.2992T>G c.3503T>G (p.Val1168Gly) c.3551T>G (p.Val1184Gly) c.3611T>G (p.Val1204Gly) c.3161T>G (p.Val1054Gly) c.1463T>G (p.Val488Gly) c.1280T>G (p.Val427Gly) c.3512T>G (p.Val1171Gly) c.3464T>G (p.Val1155Gly) c.3233T>G (p.Val1078Gly) c.3134T>G (p.Val1045Gly) c.2315T>G (p.Val772Gly) n.3866T>G | |
| 13 | g.51939103A>G | CA388023943 | ATP7B | c.*1297T>C (n.*1297T>C) c.*2391T>C (n.*2391T>C) c.3026T>C (p.Val1009Ala) c.3647T>C (p.Val1216Ala) c.3314T>C (p.Val1105Ala) c.3395T>C (p.Val1132Ala) n.888T>C c.3413T>C (p.Val1138Ala) n.3786T>C n.513T>C c.2582T>C (p.Val861Ala) c.2357T>C (p.Val786Ala) c.3452T>C (p.Val1151Ala) c.1425T>C c.*748T>C (n.*748T>C) n.4391T>C n.2992T>C c.3503T>C (p.Val1168Ala) c.3551T>C (p.Val1184Ala) c.3611T>C (p.Val1204Ala) c.3161T>C (p.Val1054Ala) c.1463T>C (p.Val488Ala) c.1280T>C (p.Val427Ala) c.3512T>C (p.Val1171Ala) c.3464T>C (p.Val1155Ala) c.3233T>C (p.Val1078Ala) c.3134T>C (p.Val1045Ala) c.2315T>C (p.Val772Ala) n.3866T>C | |
| 13 | g.51939103A>T | CA388023949 | ATP7B | c.*1297T>A (n.*1297T>A) c.*2391T>A (n.*2391T>A) c.3026T>A (p.Val1009Glu) c.3647T>A (p.Val1216Glu) c.3314T>A (p.Val1105Glu) c.3395T>A (p.Val1132Glu) n.888T>A c.3413T>A (p.Val1138Glu) n.3786T>A n.513T>A c.2582T>A (p.Val861Glu) c.2357T>A (p.Val786Glu) c.3452T>A (p.Val1151Glu) c.1425T>A c.*748T>A (n.*748T>A) n.4391T>A n.2992T>A c.3503T>A (p.Val1168Glu) c.3551T>A (p.Val1184Glu) c.3611T>A (p.Val1204Glu) c.3161T>A (p.Val1054Glu) c.1463T>A (p.Val488Glu) c.1280T>A (p.Val427Glu) c.3512T>A (p.Val1171Glu) c.3464T>A (p.Val1155Glu) c.3233T>A (p.Val1078Glu) c.3134T>A (p.Val1045Glu) c.2315T>A (p.Val772Glu) n.3866T>A | |
| 13 | g.51939104C>A | CA388023954 | ATP7B | c.*1296G>T (n.*1296G>T) c.*2390G>T (n.*2390G>T) c.3025G>T (p.Val1009Leu) c.3646G>T (p.Val1216Leu) c.3313G>T (p.Val1105Leu) c.3394G>T (p.Val1132Leu) n.887G>T c.3412G>T (p.Val1138Leu) n.3785G>T n.512G>T c.2581G>T (p.Val861Leu) c.2356G>T (p.Val786Leu) c.3451G>T (p.Val1151Leu) c.1424G>T c.*747G>T (n.*747G>T) n.4390G>T n.2991G>T c.3502G>T (p.Val1168Leu) c.3550G>T (p.Val1184Leu) c.3610G>T (p.Val1204Leu) c.3160G>T (p.Val1054Leu) c.1462G>T (p.Val488Leu) c.1279G>T (p.Val427Leu) c.3511G>T (p.Val1171Leu) c.3463G>T (p.Val1155Leu) c.3232G>T (p.Val1078Leu) c.3133G>T (p.Val1045Leu) c.2314G>T (p.Val772Leu) n.3865G>T | |
| 13 | g.51939104C= | CA2091556770 | ATP7B | c.*1296G= (n.*1296G=) c.*2390G= (n.*2390G=) c.3025G= (p.Val1009=) c.3646G= (p.Val1216=) c.3313G= (p.Val1105=) c.3394G= (p.Val1132=) n.887G= c.3412G= (p.Val1138=) n.3785G= n.512G= c.2581G= (p.Val861=) c.2356G= (p.Val786=) c.3451G= (p.Val1151=) c.1424G= c.*747G= (n.*747G=) n.4390G= n.2991G= c.3502G= (p.Val1168=) c.3550G= (p.Val1184=) c.3610G= (p.Val1204=) c.3160G= (p.Val1054=) c.1462G= (p.Val488=) c.1279G= (p.Val427=) c.3511G= (p.Val1171=) c.3463G= (p.Val1155=) c.3232G= (p.Val1078=) c.3133G= (p.Val1045=) c.2314G= (p.Val772=) n.3865G= | |
| 13 | g.51939104C>G | CA388023956 | ATP7B | c.*1296G>C (n.*1296G>C) c.*2390G>C (n.*2390G>C) c.3025G>C (p.Val1009Leu) c.3646G>C (p.Val1216Leu) c.3313G>C (p.Val1105Leu) c.3394G>C (p.Val1132Leu) n.887G>C c.3412G>C (p.Val1138Leu) n.3785G>C n.512G>C c.2581G>C (p.Val861Leu) c.2356G>C (p.Val786Leu) c.3451G>C (p.Val1151Leu) c.1424G>C c.*747G>C (n.*747G>C) n.4390G>C n.2991G>C c.3502G>C (p.Val1168Leu) c.3550G>C (p.Val1184Leu) c.3610G>C (p.Val1204Leu) c.3160G>C (p.Val1054Leu) c.1462G>C (p.Val488Leu) c.1279G>C (p.Val427Leu) c.3511G>C (p.Val1171Leu) c.3463G>C (p.Val1155Leu) c.3232G>C (p.Val1078Leu) c.3133G>C (p.Val1045Leu) c.2314G>C (p.Val772Leu) n.3865G>C | gnomAD v4 |
| 13 | g.51939104C>T | CA274052 | ATP7B | c.*1296G>A (n.*1296G>A) c.*2390G>A (n.*2390G>A) c.3025G>A (p.Val1009Met) c.3646G>A (p.Val1216Met) c.3313G>A (p.Val1105Met) c.3394G>A (p.Val1132Met) n.887G>A c.3412G>A (p.Val1138Met) n.3785G>A n.512G>A c.2581G>A (p.Val861Met) c.2356G>A (p.Val786Met) c.3451G>A (p.Val1151Met) c.1424G>A c.*747G>A (n.*747G>A) n.4390G>A n.2991G>A c.3502G>A (p.Val1168Met) c.3550G>A (p.Val1184Met) c.3610G>A (p.Val1204Met) c.3160G>A (p.Val1054Met) c.1462G>A (p.Val488Met) c.1279G>A (p.Val427Met) c.3511G>A (p.Val1171Met) c.3463G>A (p.Val1155Met) c.3232G>A (p.Val1078Met) c.3133G>A (p.Val1045Met) c.2314G>A (p.Val772Met) n.3865G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51939105G>A | CA6988616 | ATP7B | c.*1295C>T (n.*1295C>T) c.*2389C>T (n.*2389C>T) c.3024C>T (p.Asp1008=) c.3645C>T (p.Asp1215=) c.3312C>T (p.Asp1104=) c.3393C>T (p.Asp1131=) n.886C>T c.3411C>T (p.Asp1137=) n.3784C>T n.511C>T c.2580C>T (p.Asp860=) c.2355C>T (p.Asp785=) c.3450C>T (p.Asp1150=) c.1423C>T c.*746C>T (n.*746C>T) n.4389C>T n.2990C>T c.3501C>T (p.Asp1167=) c.3549C>T (p.Asp1183=) c.3609C>T (p.Asp1203=) c.3159C>T (p.Asp1053=) c.1461C>T (p.Asp487=) c.1278C>T (p.Asp426=) c.3510C>T (p.Asp1170=) c.3462C>T (p.Asp1154=) c.3231C>T (p.Asp1077=) c.3132C>T (p.Asp1044=) c.2313C>T (p.Asp771=) n.3864C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51939105G>C | CA388023961 | ATP7B | c.*1295C>G (n.*1295C>G) c.*2389C>G (n.*2389C>G) c.3024C>G (p.Asp1008Glu) c.3645C>G (p.Asp1215Glu) c.3312C>G (p.Asp1104Glu) c.3393C>G (p.Asp1131Glu) n.886C>G c.3411C>G (p.Asp1137Glu) n.3784C>G n.511C>G c.2580C>G (p.Asp860Glu) c.2355C>G (p.Asp785Glu) c.3450C>G (p.Asp1150Glu) c.1423C>G c.*746C>G (n.*746C>G) n.4389C>G n.2990C>G c.3501C>G (p.Asp1167Glu) c.3549C>G (p.Asp1183Glu) c.3609C>G (p.Asp1203Glu) c.3159C>G (p.Asp1053Glu) c.1461C>G (p.Asp487Glu) c.1278C>G (p.Asp426Glu) c.3510C>G (p.Asp1170Glu) c.3462C>G (p.Asp1154Glu) c.3231C>G (p.Asp1077Glu) c.3132C>G (p.Asp1044Glu) c.2313C>G (p.Asp771Glu) n.3864C>G | |
| 13 | g.51939105G= | CA2091556776 | ATP7B | c.*1295C= (n.*1295C=) c.*2389C= (n.*2389C=) c.3024C= (p.Asp1008=) c.3645C= (p.Asp1215=) c.3312C= (p.Asp1104=) c.3393C= (p.Asp1131=) n.886C= c.3411C= (p.Asp1137=) n.3784C= n.511C= c.2580C= (p.Asp860=) c.2355C= (p.Asp785=) c.3450C= (p.Asp1150=) c.1423C= c.*746C= (n.*746C=) n.4389C= n.2990C= c.3501C= (p.Asp1167=) c.3549C= (p.Asp1183=) c.3609C= (p.Asp1203=) c.3159C= (p.Asp1053=) c.1461C= (p.Asp487=) c.1278C= (p.Asp426=) c.3510C= (p.Asp1170=) c.3462C= (p.Asp1154=) c.3231C= (p.Asp1077=) c.3132C= (p.Asp1044=) c.2313C= (p.Asp771=) n.3864C= | |
| 13 | g.51939105G>T | CA388023962 | ATP7B | c.*1295C>A (n.*1295C>A) c.*2389C>A (n.*2389C>A) c.3024C>A (p.Asp1008Glu) c.3645C>A (p.Asp1215Glu) c.3312C>A (p.Asp1104Glu) c.3393C>A (p.Asp1131Glu) n.886C>A c.3411C>A (p.Asp1137Glu) n.3784C>A n.511C>A c.2580C>A (p.Asp860Glu) c.2355C>A (p.Asp785Glu) c.3450C>A (p.Asp1150Glu) c.1423C>A c.*746C>A (n.*746C>A) n.4389C>A n.2990C>A c.3501C>A (p.Asp1167Glu) c.3549C>A (p.Asp1183Glu) c.3609C>A (p.Asp1203Glu) c.3159C>A (p.Asp1053Glu) c.1461C>A (p.Asp487Glu) c.1278C>A (p.Asp426Glu) c.3510C>A (p.Asp1170Glu) c.3462C>A (p.Asp1154Glu) c.3231C>A (p.Asp1077Glu) c.3132C>A (p.Asp1044Glu) c.2313C>A (p.Asp771Glu) n.3864C>A | |
| 13 | g.51939106T>A | CA388023973 | ATP7B | c.*1294A>T (n.*1294A>T) c.*2388A>T (n.*2388A>T) c.3023A>T (p.Asp1008Val) c.3644A>T (p.Asp1215Val) c.3311A>T (p.Asp1104Val) c.3392A>T (p.Asp1131Val) n.885A>T c.3410A>T (p.Asp1137Val) n.3783A>T n.510A>T c.2579A>T (p.Asp860Val) c.2354A>T (p.Asp785Val) c.3449A>T (p.Asp1150Val) c.1422A>T c.*745A>T (n.*745A>T) n.4388A>T n.2989A>T c.3500A>T (p.Asp1167Val) c.3548A>T (p.Asp1183Val) c.3608A>T (p.Asp1203Val) c.3158A>T (p.Asp1053Val) c.1460A>T (p.Asp487Val) c.1277A>T (p.Asp426Val) c.3509A>T (p.Asp1170Val) c.3461A>T (p.Asp1154Val) c.3230A>T (p.Asp1077Val) c.3131A>T (p.Asp1044Val) c.2312A>T (p.Asp771Val) n.3863A>T | |
| 13 | g.51939106T>C | CA388023964 | ATP7B | c.*1294A>G (n.*1294A>G) c.*2388A>G (n.*2388A>G) c.3023A>G (p.Asp1008Gly) c.3644A>G (p.Asp1215Gly) c.3311A>G (p.Asp1104Gly) c.3392A>G (p.Asp1131Gly) n.885A>G c.3410A>G (p.Asp1137Gly) n.3783A>G n.510A>G c.2579A>G (p.Asp860Gly) c.2354A>G (p.Asp785Gly) c.3449A>G (p.Asp1150Gly) c.1422A>G c.*745A>G (n.*745A>G) n.4388A>G n.2989A>G c.3500A>G (p.Asp1167Gly) c.3548A>G (p.Asp1183Gly) c.3608A>G (p.Asp1203Gly) c.3158A>G (p.Asp1053Gly) c.1460A>G (p.Asp487Gly) c.1277A>G (p.Asp426Gly) c.3509A>G (p.Asp1170Gly) c.3461A>G (p.Asp1154Gly) c.3230A>G (p.Asp1077Gly) c.3131A>G (p.Asp1044Gly) c.2312A>G (p.Asp771Gly) n.3863A>G | ClinVar dbSNP |
| 13 | g.51939106T>G | CA388023963 | ATP7B | c.*1294A>C (n.*1294A>C) c.*2388A>C (n.*2388A>C) c.3023A>C (p.Asp1008Ala) c.3644A>C (p.Asp1215Ala) c.3311A>C (p.Asp1104Ala) c.3392A>C (p.Asp1131Ala) n.885A>C c.3410A>C (p.Asp1137Ala) n.3783A>C n.510A>C c.2579A>C (p.Asp860Ala) c.2354A>C (p.Asp785Ala) c.3449A>C (p.Asp1150Ala) c.1422A>C c.*745A>C (n.*745A>C) n.4388A>C n.2989A>C c.3500A>C (p.Asp1167Ala) c.3548A>C (p.Asp1183Ala) c.3608A>C (p.Asp1203Ala) c.3158A>C (p.Asp1053Ala) c.1460A>C (p.Asp487Ala) c.1277A>C (p.Asp426Ala) c.3509A>C (p.Asp1170Ala) c.3461A>C (p.Asp1154Ala) c.3230A>C (p.Asp1077Ala) c.3131A>C (p.Asp1044Ala) c.2312A>C (p.Asp771Ala) n.3863A>C | |
| 13 | g.51939106T= | CA2091556779 | ATP7B | c.*1294A= (n.*1294A=) c.*2388A= (n.*2388A=) c.3023A= (p.Asp1008=) c.3644A= (p.Asp1215=) c.3311A= (p.Asp1104=) c.3392A= (p.Asp1131=) n.885A= c.3410A= (p.Asp1137=) n.3783A= n.510A= c.2579A= (p.Asp860=) c.2354A= (p.Asp785=) c.3449A= (p.Asp1150=) c.1422A= c.*745A= (n.*745A=) n.4388A= n.2989A= c.3500A= (p.Asp1167=) c.3548A= (p.Asp1183=) c.3608A= (p.Asp1203=) c.3158A= (p.Asp1053=) c.1460A= (p.Asp487=) c.1277A= (p.Asp426=) c.3509A= (p.Asp1170=) c.3461A= (p.Asp1154=) c.3230A= (p.Asp1077=) c.3131A= (p.Asp1044=) c.2312A= (p.Asp771=) n.3863A= | |
| 13 | g.51939107C>A | CA388023976 | ATP7B | c.*1293G>T (n.*1293G>T) c.*2387G>T (n.*2387G>T) c.3022G>T (p.Asp1008Tyr) c.3643G>T (p.Asp1215Tyr) c.3310G>T (p.Asp1104Tyr) c.3391G>T (p.Asp1131Tyr) n.884G>T c.3409G>T (p.Asp1137Tyr) n.3782G>T n.509G>T c.2578G>T (p.Asp860Tyr) c.2353G>T (p.Asp785Tyr) c.3448G>T (p.Asp1150Tyr) c.1421G>T c.*744G>T (n.*744G>T) n.4387G>T n.2988G>T c.3499G>T (p.Asp1167Tyr) c.3547G>T (p.Asp1183Tyr) c.3607G>T (p.Asp1203Tyr) c.3157G>T (p.Asp1053Tyr) c.1459G>T (p.Asp487Tyr) c.1276G>T (p.Asp426Tyr) c.3508G>T (p.Asp1170Tyr) c.3460G>T (p.Asp1154Tyr) c.3229G>T (p.Asp1077Tyr) c.3130G>T (p.Asp1044Tyr) c.2311G>T (p.Asp771Tyr) n.3862G>T | |
| 13 | g.51939107C>G | CA388023980 | ATP7B | c.*1293G>C (n.*1293G>C) c.*2387G>C (n.*2387G>C) c.3022G>C (p.Asp1008His) c.3643G>C (p.Asp1215His) c.3310G>C (p.Asp1104His) c.3391G>C (p.Asp1131His) n.884G>C c.3409G>C (p.Asp1137His) n.3782G>C n.509G>C c.2578G>C (p.Asp860His) c.2353G>C (p.Asp785His) c.3448G>C (p.Asp1150His) c.1421G>C c.*744G>C (n.*744G>C) n.4387G>C n.2988G>C c.3499G>C (p.Asp1167His) c.3547G>C (p.Asp1183His) c.3607G>C (p.Asp1203His) c.3157G>C (p.Asp1053His) c.1459G>C (p.Asp487His) c.1276G>C (p.Asp426His) c.3508G>C (p.Asp1170His) c.3460G>C (p.Asp1154His) c.3229G>C (p.Asp1077His) c.3130G>C (p.Asp1044His) c.2311G>C (p.Asp771His) n.3862G>C | |
| 13 | g.51939107C>T | CA388023978 | ATP7B | c.*1293G>A (n.*1293G>A) c.*2387G>A (n.*2387G>A) c.3022G>A (p.Asp1008Asn) c.3643G>A (p.Asp1215Asn) c.3310G>A (p.Asp1104Asn) c.3391G>A (p.Asp1131Asn) n.884G>A c.3409G>A (p.Asp1137Asn) n.3782G>A n.509G>A c.2578G>A (p.Asp860Asn) c.2353G>A (p.Asp785Asn) c.3448G>A (p.Asp1150Asn) c.1421G>A c.*744G>A (n.*744G>A) n.4387G>A n.2988G>A c.3499G>A (p.Asp1167Asn) c.3547G>A (p.Asp1183Asn) c.3607G>A (p.Asp1203Asn) c.3157G>A (p.Asp1053Asn) c.1459G>A (p.Asp487Asn) c.1276G>A (p.Asp426Asn) c.3508G>A (p.Asp1170Asn) c.3460G>A (p.Asp1154Asn) c.3229G>A (p.Asp1077Asn) c.3130G>A (p.Asp1044Asn) c.2311G>A (p.Asp771Asn) n.3862G>A | COSMIC |
| 13 | g.51939108C>A | CA483893752 | ATP7B | c.*1292G>T (n.*1292G>T) c.*2386G>T (n.*2386G>T) c.3021G>T (p.Val1007=) c.3642G>T (p.Val1214=) c.3309G>T (p.Val1103=) c.3390G>T (p.Val1130=) n.883G>T c.3408G>T (p.Val1136=) n.3781G>T n.508G>T c.2577G>T (p.Val859=) c.2352G>T (p.Val784=) c.3447G>T (p.Val1149=) c.1420G>T c.*743G>T (n.*743G>T) n.4386G>T n.2987G>T c.3498G>T (p.Val1166=) c.3546G>T (p.Val1182=) c.3606G>T (p.Val1202=) c.3156G>T (p.Val1052=) c.1458G>T (p.Val486=) c.1275G>T (p.Val425=) c.3507G>T (p.Val1169=) c.3459G>T (p.Val1153=) c.3228G>T (p.Val1076=) c.3129G>T (p.Val1043=) c.2310G>T (p.Val770=) n.3861G>T | |
| 13 | g.51939108C= | CA2091556783 | ATP7B | c.*1292G= (n.*1292G=) c.*2386G= (n.*2386G=) c.3021G= (p.Val1007=) c.3642G= (p.Val1214=) c.3309G= (p.Val1103=) c.3390G= (p.Val1130=) n.883G= c.3408G= (p.Val1136=) n.3781G= n.508G= c.2577G= (p.Val859=) c.2352G= (p.Val784=) c.3447G= (p.Val1149=) c.1420G= c.*743G= (n.*743G=) n.4386G= n.2987G= c.3498G= (p.Val1166=) c.3546G= (p.Val1182=) c.3606G= (p.Val1202=) c.3156G= (p.Val1052=) c.1458G= (p.Val486=) c.1275G= (p.Val425=) c.3507G= (p.Val1169=) c.3459G= (p.Val1153=) c.3228G= (p.Val1076=) c.3129G= (p.Val1043=) c.2310G= (p.Val770=) n.3861G= | |
| 13 | g.51939108C>G | CA483893753 | ATP7B | c.*1292G>C (n.*1292G>C) c.*2386G>C (n.*2386G>C) c.3021G>C (p.Val1007=) c.3642G>C (p.Val1214=) c.3309G>C (p.Val1103=) c.3390G>C (p.Val1130=) n.883G>C c.3408G>C (p.Val1136=) n.3781G>C n.508G>C c.2577G>C (p.Val859=) c.2352G>C (p.Val784=) c.3447G>C (p.Val1149=) c.1420G>C c.*743G>C (n.*743G>C) n.4386G>C n.2987G>C c.3498G>C (p.Val1166=) c.3546G>C (p.Val1182=) c.3606G>C (p.Val1202=) c.3156G>C (p.Val1052=) c.1458G>C (p.Val486=) c.1275G>C (p.Val425=) c.3507G>C (p.Val1169=) c.3459G>C (p.Val1153=) c.3228G>C (p.Val1076=) c.3129G>C (p.Val1043=) c.2310G>C (p.Val770=) n.3861G>C | gnomAD v4 |
| 13 | g.51939108C>T | CA483893754 | ATP7B | c.*1292G>A (n.*1292G>A) c.*2386G>A (n.*2386G>A) c.3021G>A (p.Val1007=) c.3642G>A (p.Val1214=) c.3309G>A (p.Val1103=) c.3390G>A (p.Val1130=) n.883G>A c.3408G>A (p.Val1136=) n.3781G>A n.508G>A c.2577G>A (p.Val859=) c.2352G>A (p.Val784=) c.3447G>A (p.Val1149=) c.1420G>A c.*743G>A (n.*743G>A) n.4386G>A n.2987G>A c.3498G>A (p.Val1166=) c.3546G>A (p.Val1182=) c.3606G>A (p.Val1202=) c.3156G>A (p.Val1052=) c.1458G>A (p.Val486=) c.1275G>A (p.Val425=) c.3507G>A (p.Val1169=) c.3459G>A (p.Val1153=) c.3228G>A (p.Val1076=) c.3129G>A (p.Val1043=) c.2310G>A (p.Val770=) n.3861G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51939111_51939112del | CA2695218773 | ATP7B | c.*1291_*1292del (n.*1291_*1292del) c.*2385_*2386del (n.*2385_*2386del) c.3020_3021del (p.Val1007GlyfsTer?) c.3641_3642del (p.Val1214GlyfsTer?) c.3308_3309del (p.Val1103GlyfsTer?) c.3389_3390del (p.Val1130GlyfsTer?) n.882_883del c.3407_3408del (p.Val1136GlyfsTer?) n.3780_3781del n.507_508del c.2576_2577del (p.Val859GlyfsTer?) c.2351_2352del (p.Val784GlyfsTer?) c.3446_3447del (p.Val1149GlyfsTer?) c.1419_1420del c.*742_*743del (n.*742_*743del) n.4385_4386del n.2986_2987del c.3497_3498del (p.Val1166GlyfsTer?) c.3545_3546del (p.Val1182GlyfsTer?) c.3605_3606del (p.Val1202GlyfsTer?) c.3155_3156del (p.Val1052GlyfsTer?) c.1457_1458del (p.Val486GlyfsTer?) c.1274_1275del (p.Val425GlyfsTer?) c.3506_3507del (p.Val1169GlyfsTer?) c.3458_3459del (p.Val1153GlyfsTer?) c.3227_3228del (p.Val1076GlyfsTer?) c.3128_3129del (p.Val1043GlyfsTer?) c.2309_2310del (p.Val770GlyfsTer?) n.3860_3861del | |
| 13 | g.51939109A>C | CA388023982 | ATP7B | c.*1291T>G (n.*1291T>G) c.*2385T>G (n.*2385T>G) c.3020T>G (p.Val1007Gly) c.3641T>G (p.Val1214Gly) c.3308T>G (p.Val1103Gly) c.3389T>G (p.Val1130Gly) n.882T>G c.3407T>G (p.Val1136Gly) n.3780T>G n.507T>G c.2576T>G (p.Val859Gly) c.2351T>G (p.Val784Gly) c.3446T>G (p.Val1149Gly) c.1419T>G c.*742T>G (n.*742T>G) n.4385T>G n.2986T>G c.3497T>G (p.Val1166Gly) c.3545T>G (p.Val1182Gly) c.3605T>G (p.Val1202Gly) c.3155T>G (p.Val1052Gly) c.1457T>G (p.Val486Gly) c.1274T>G (p.Val425Gly) c.3506T>G (p.Val1169Gly) c.3458T>G (p.Val1153Gly) c.3227T>G (p.Val1076Gly) c.3128T>G (p.Val1043Gly) c.2309T>G (p.Val770Gly) n.3860T>G | |
| 13 | g.51939109A>G | CA388023984 | ATP7B | c.*1291T>C (n.*1291T>C) c.*2385T>C (n.*2385T>C) c.3020T>C (p.Val1007Ala) c.3641T>C (p.Val1214Ala) c.3308T>C (p.Val1103Ala) c.3389T>C (p.Val1130Ala) n.882T>C c.3407T>C (p.Val1136Ala) n.3780T>C n.507T>C c.2576T>C (p.Val859Ala) c.2351T>C (p.Val784Ala) c.3446T>C (p.Val1149Ala) c.1419T>C c.*742T>C (n.*742T>C) n.4385T>C n.2986T>C c.3497T>C (p.Val1166Ala) c.3545T>C (p.Val1182Ala) c.3605T>C (p.Val1202Ala) c.3155T>C (p.Val1052Ala) c.1457T>C (p.Val486Ala) c.1274T>C (p.Val425Ala) c.3506T>C (p.Val1169Ala) c.3458T>C (p.Val1153Ala) c.3227T>C (p.Val1076Ala) c.3128T>C (p.Val1043Ala) c.2309T>C (p.Val770Ala) n.3860T>C | |
| 13 | g.51939109A>T | CA388023986 | ATP7B | c.*1291T>A (n.*1291T>A) c.*2385T>A (n.*2385T>A) c.3020T>A (p.Val1007Glu) c.3641T>A (p.Val1214Glu) c.3308T>A (p.Val1103Glu) c.3389T>A (p.Val1130Glu) n.882T>A c.3407T>A (p.Val1136Glu) n.3780T>A n.507T>A c.2576T>A (p.Val859Glu) c.2351T>A (p.Val784Glu) c.3446T>A (p.Val1149Glu) c.1419T>A c.*742T>A (n.*742T>A) n.4385T>A n.2986T>A c.3497T>A (p.Val1166Glu) c.3545T>A (p.Val1182Glu) c.3605T>A (p.Val1202Glu) c.3155T>A (p.Val1052Glu) c.1457T>A (p.Val486Glu) c.1274T>A (p.Val425Glu) c.3506T>A (p.Val1169Glu) c.3458T>A (p.Val1153Glu) c.3227T>A (p.Val1076Glu) c.3128T>A (p.Val1043Glu) c.2309T>A (p.Val770Glu) n.3860T>A | |
| 13 | g.51939110C>A | CA388023987 | ATP7B | c.*1290G>T (n.*1290G>T) c.*2384G>T (n.*2384G>T) c.3019G>T (p.Val1007Leu) c.3640G>T (p.Val1214Leu) c.3307G>T (p.Val1103Leu) c.3388G>T (p.Val1130Leu) n.881G>T c.3406G>T (p.Val1136Leu) n.3779G>T n.506G>T c.2575G>T (p.Val859Leu) c.2350G>T (p.Val784Leu) c.3445G>T (p.Val1149Leu) c.1418G>T c.*741G>T (n.*741G>T) n.4384G>T n.2985G>T c.3496G>T (p.Val1166Leu) c.3544G>T (p.Val1182Leu) c.3604G>T (p.Val1202Leu) c.3154G>T (p.Val1052Leu) c.1456G>T (p.Val486Leu) c.1273G>T (p.Val425Leu) c.3505G>T (p.Val1169Leu) c.3457G>T (p.Val1153Leu) c.3226G>T (p.Val1076Leu) c.3127G>T (p.Val1043Leu) c.2308G>T (p.Val770Leu) n.3859G>T | |
| 13 | g.51939110C>G | CA388023990 | ATP7B | c.*1290G>C (n.*1290G>C) c.*2384G>C (n.*2384G>C) c.3019G>C (p.Val1007Leu) c.3640G>C (p.Val1214Leu) c.3307G>C (p.Val1103Leu) c.3388G>C (p.Val1130Leu) n.881G>C c.3406G>C (p.Val1136Leu) n.3779G>C n.506G>C c.2575G>C (p.Val859Leu) c.2350G>C (p.Val784Leu) c.3445G>C (p.Val1149Leu) c.1418G>C c.*741G>C (n.*741G>C) n.4384G>C n.2985G>C c.3496G>C (p.Val1166Leu) c.3544G>C (p.Val1182Leu) c.3604G>C (p.Val1202Leu) c.3154G>C (p.Val1052Leu) c.1456G>C (p.Val486Leu) c.1273G>C (p.Val425Leu) c.3505G>C (p.Val1169Leu) c.3457G>C (p.Val1153Leu) c.3226G>C (p.Val1076Leu) c.3127G>C (p.Val1043Leu) c.2308G>C (p.Val770Leu) n.3859G>C | |
| 13 | g.51939110C>T | CA388023994 | ATP7B | c.*1290G>A (n.*1290G>A) c.*2384G>A (n.*2384G>A) c.3019G>A (p.Val1007Met) c.3640G>A (p.Val1214Met) c.3307G>A (p.Val1103Met) c.3388G>A (p.Val1130Met) n.881G>A c.3406G>A (p.Val1136Met) n.3779G>A n.506G>A c.2575G>A (p.Val859Met) c.2350G>A (p.Val784Met) c.3445G>A (p.Val1149Met) c.1418G>A c.*741G>A (n.*741G>A) n.4384G>A n.2985G>A c.3496G>A (p.Val1166Met) c.3544G>A (p.Val1182Met) c.3604G>A (p.Val1202Met) c.3154G>A (p.Val1052Met) c.1456G>A (p.Val486Met) c.1273G>A (p.Val425Met) c.3505G>A (p.Val1169Met) c.3457G>A (p.Val1153Met) c.3226G>A (p.Val1076Met) c.3127G>A (p.Val1043Met) c.2308G>A (p.Val770Met) n.3859G>A |