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.51941086_51941094delinsGCAGA | CA2695199760 | ATP7B | c.*1193_*1201delinsTCTGC (n.*1193_*1201delinsTCTGC) c.*2287_*2295delinsTCTGC (n.*2287_*2295delinsTCTGC) c.2922_2930delinsTCTGC (p.Val975LeufsTer9) c.3543_3551delinsTCTGC (p.Val1182LeufsTer9) c.3210_3218delinsTCTGC (p.Val1071LeufsTer9) c.3291_3299delinsTCTGC (p.Val1098LeufsTer9) c.3309_3317delinsTCTGC (p.Val1104LeufsTer9) n.3682_3690delinsTCTGC n.3906_3914delinsTCTGC c.2478_2486delinsTCTGC (p.Val827LeufsTer9) c.2253_2261delinsTCTGC (p.Val752LeufsTer9) c.3348_3356delinsTCTGC (p.Val1117LeufsTer9) c.1321_1329delinsTCTGC c.*644_*652delinsTCTGC (n.*644_*652delinsTCTGC) n.4287_4295delinsTCTGC n.2888_2896delinsTCTGC c.3399_3407delinsTCTGC (p.Val1134LeufsTer9) c.3447_3455delinsTCTGC (p.Val1150LeufsTer9) c.3507_3515delinsTCTGC (p.Val1170LeufsTer9) c.3057_3065delinsTCTGC (p.Val1020LeufsTer9) c.1359_1367delinsTCTGC (p.Val454LeufsTer9) c.1176_1184delinsTCTGC (p.Val393LeufsTer9) c.3408_3416delinsTCTGC (p.Val1137LeufsTer9) c.3360_3368delinsTCTGC (p.Val1121LeufsTer9) c.3129_3137delinsTCTGC (p.Val1044LeufsTer9) c.3030_3038delinsTCTGC (p.Val1011LeufsTer9) c.2211_2219delinsTCTGC (p.Val738LeufsTer9) n.3762_3770delinsTCTGC | ClinVar |
| 13 | g.51941087T>A | CA388025934 | ATP7B | c.*1200A>T (n.*1200A>T) c.*2294A>T (n.*2294A>T) c.2929A>T (p.Ile977Phe) c.3550A>T (p.Ile1184Phe) c.3217A>T (p.Ile1073Phe) c.3298A>T (p.Ile1100Phe) c.3316A>T (p.Ile1106Phe) n.3689A>T n.3913A>T c.2485A>T (p.Ile829Phe) c.2260A>T (p.Ile754Phe) c.3355A>T (p.Ile1119Phe) c.1328A>T c.*651A>T (n.*651A>T) n.4294A>T n.2895A>T c.3406A>T (p.Ile1136Phe) c.3454A>T (p.Ile1152Phe) c.3514A>T (p.Ile1172Phe) c.3064A>T (p.Ile1022Phe) c.1366A>T (p.Ile456Phe) c.1183A>T (p.Ile395Phe) c.3415A>T (p.Ile1139Phe) c.3367A>T (p.Ile1123Phe) c.3136A>T (p.Ile1046Phe) c.3037A>T (p.Ile1013Phe) c.2218A>T (p.Ile740Phe) n.3769A>T | |
| 13 | g.51941087T>C | CA16043757 | ATP7B | c.*1200A>G (n.*1200A>G) c.*2294A>G (n.*2294A>G) c.2929A>G (p.Ile977Val) c.3550A>G (p.Ile1184Val) c.3217A>G (p.Ile1073Val) c.3298A>G (p.Ile1100Val) c.3316A>G (p.Ile1106Val) n.3689A>G n.3913A>G c.2485A>G (p.Ile829Val) c.2260A>G (p.Ile754Val) c.3355A>G (p.Ile1119Val) c.1328A>G c.*651A>G (n.*651A>G) n.4294A>G n.2895A>G c.3406A>G (p.Ile1136Val) c.3454A>G (p.Ile1152Val) c.3514A>G (p.Ile1172Val) c.3064A>G (p.Ile1022Val) c.1366A>G (p.Ile456Val) c.1183A>G (p.Ile395Val) c.3415A>G (p.Ile1139Val) c.3367A>G (p.Ile1123Val) c.3136A>G (p.Ile1046Val) c.3037A>G (p.Ile1013Val) c.2218A>G (p.Ile740Val) n.3769A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51941087T>G | CA388025926 | ATP7B | c.*1200A>C (n.*1200A>C) c.*2294A>C (n.*2294A>C) c.2929A>C (p.Ile977Leu) c.3550A>C (p.Ile1184Leu) c.3217A>C (p.Ile1073Leu) c.3298A>C (p.Ile1100Leu) c.3316A>C (p.Ile1106Leu) n.3689A>C n.3913A>C c.2485A>C (p.Ile829Leu) c.2260A>C (p.Ile754Leu) c.3355A>C (p.Ile1119Leu) c.1328A>C c.*651A>C (n.*651A>C) n.4294A>C n.2895A>C c.3406A>C (p.Ile1136Leu) c.3454A>C (p.Ile1152Leu) c.3514A>C (p.Ile1172Leu) c.3064A>C (p.Ile1022Leu) c.1366A>C (p.Ile456Leu) c.1183A>C (p.Ile395Leu) c.3415A>C (p.Ile1139Leu) c.3367A>C (p.Ile1123Leu) c.3136A>C (p.Ile1046Leu) c.3037A>C (p.Ile1013Leu) c.2218A>C (p.Ile740Leu) n.3769A>C | |
| 13 | g.51941087T= | CA2091559317 | ATP7B | c.*1200A= (n.*1200A=) c.*2294A= (n.*2294A=) c.2929A= (p.Ile977=) c.3550A= (p.Ile1184=) c.3217A= (p.Ile1073=) c.3298A= (p.Ile1100=) c.3316A= (p.Ile1106=) n.3689A= n.3913A= c.2485A= (p.Ile829=) c.2260A= (p.Ile754=) c.3355A= (p.Ile1119=) c.1328A= c.*651A= (n.*651A=) n.4294A= n.2895A= c.3406A= (p.Ile1136=) c.3454A= (p.Ile1152=) c.3514A= (p.Ile1172=) c.3064A= (p.Ile1022=) c.1366A= (p.Ile456=) c.1183A= (p.Ile395=) c.3415A= (p.Ile1139=) c.3367A= (p.Ile1123=) c.3136A= (p.Ile1046=) c.3037A= (p.Ile1013=) c.2218A= (p.Ile740=) n.3769A= | |
| 13 | g.51941087dup | CA2580614740 | ATP7B | c.*1200dup (n.*1200dup) c.*2294dup (n.*2294dup) c.2929dup (p.Ile977AsnfsTer2) c.3550dup (p.Ile1184AsnfsTer2) c.3217dup (p.Ile1073AsnfsTer2) c.3298dup (p.Ile1100AsnfsTer2) c.3316dup (p.Ile1106AsnfsTer2) n.3689dup n.3913dup c.2485dup (p.Ile829AsnfsTer2) c.2260dup (p.Ile754AsnfsTer2) c.3355dup (p.Ile1119AsnfsTer2) c.1328dup c.*651dup (n.*651dup) n.4294dup n.2895dup c.3406dup (p.Ile1136AsnfsTer2) c.3454dup (p.Ile1152AsnfsTer2) c.3514dup (p.Ile1172AsnfsTer2) c.3064dup (p.Ile1022AsnfsTer2) c.1366dup (p.Ile456AsnfsTer2) c.1183dup (p.Ile395AsnfsTer2) c.3415dup (p.Ile1139AsnfsTer2) c.3367dup (p.Ile1123AsnfsTer2) c.3136dup (p.Ile1046AsnfsTer2) c.3037dup (p.Ile1013AsnfsTer2) c.2218dup (p.Ile740AsnfsTer2) n.3769dup | ClinVar |
| 13 | g.51941088A>C | CA483893923 | ATP7B | c.*1199T>G (n.*1199T>G) c.*2293T>G (n.*2293T>G) c.2928T>G (p.Ala976=) c.3549T>G (p.Ala1183=) c.3216T>G (p.Ala1072=) c.3297T>G (p.Ala1099=) c.3315T>G (p.Ala1105=) n.3688T>G n.3912T>G c.2484T>G (p.Ala828=) c.2259T>G (p.Ala753=) c.3354T>G (p.Ala1118=) c.1327T>G c.*650T>G (n.*650T>G) n.4293T>G n.2894T>G c.3405T>G (p.Ala1135=) c.3453T>G (p.Ala1151=) c.3513T>G (p.Ala1171=) c.3063T>G (p.Ala1021=) c.1365T>G (p.Ala455=) c.1182T>G (p.Ala394=) c.3414T>G (p.Ala1138=) c.3366T>G (p.Ala1122=) c.3135T>G (p.Ala1045=) c.3036T>G (p.Ala1012=) c.2217T>G (p.Ala739=) n.3768T>G | |
| 13 | g.51941088A>G | CA483893924 | ATP7B | c.*1199T>C (n.*1199T>C) c.*2293T>C (n.*2293T>C) c.2928T>C (p.Ala976=) c.3549T>C (p.Ala1183=) c.3216T>C (p.Ala1072=) c.3297T>C (p.Ala1099=) c.3315T>C (p.Ala1105=) n.3688T>C n.3912T>C c.2484T>C (p.Ala828=) c.2259T>C (p.Ala753=) c.3354T>C (p.Ala1118=) c.1327T>C c.*650T>C (n.*650T>C) n.4293T>C n.2894T>C c.3405T>C (p.Ala1135=) c.3453T>C (p.Ala1151=) c.3513T>C (p.Ala1171=) c.3063T>C (p.Ala1021=) c.1365T>C (p.Ala455=) c.1182T>C (p.Ala394=) c.3414T>C (p.Ala1138=) c.3366T>C (p.Ala1122=) c.3135T>C (p.Ala1045=) c.3036T>C (p.Ala1012=) c.2217T>C (p.Ala739=) n.3768T>C | |
| 13 | g.51941088A>T | CA483893925 | ATP7B | c.*1199T>A (n.*1199T>A) c.*2293T>A (n.*2293T>A) c.2928T>A (p.Ala976=) c.3549T>A (p.Ala1183=) c.3216T>A (p.Ala1072=) c.3297T>A (p.Ala1099=) c.3315T>A (p.Ala1105=) n.3688T>A n.3912T>A c.2484T>A (p.Ala828=) c.2259T>A (p.Ala753=) c.3354T>A (p.Ala1118=) c.1327T>A c.*650T>A (n.*650T>A) n.4293T>A n.2894T>A c.3405T>A (p.Ala1135=) c.3453T>A (p.Ala1151=) c.3513T>A (p.Ala1171=) c.3063T>A (p.Ala1021=) c.1365T>A (p.Ala455=) c.1182T>A (p.Ala394=) c.3414T>A (p.Ala1138=) c.3366T>A (p.Ala1122=) c.3135T>A (p.Ala1045=) c.3036T>A (p.Ala1012=) c.2217T>A (p.Ala739=) n.3768T>A | gnomAD v4 |
| 13 | g.51941088_51941090delinsAGC | CA2091559322 | ATP7B | c.*1197_*1199delinsGCT (n.*1197_*1199delinsGCT) c.*2291_*2293delinsGCT (n.*2291_*2293delinsGCT) c.2926_2928delinsGCT (p.Ala976=) c.3547_3549delinsGCT (p.Ala1183=) c.3214_3216delinsGCT (p.Ala1072=) c.3295_3297delinsGCT (p.Ala1099=) c.3313_3315delinsGCT (p.Ala1105=) n.3686_3688delinsGCT n.3910_3912delinsGCT c.2482_2484delinsGCT (p.Ala828=) c.2257_2259delinsGCT (p.Ala753=) c.3352_3354delinsGCT (p.Ala1118=) c.1325_1327delinsGCT c.*648_*650delinsGCT (n.*648_*650delinsGCT) n.4291_4293delinsGCT n.2892_2894delinsGCT c.3403_3405delinsGCT (p.Ala1135=) c.3451_3453delinsGCT (p.Ala1151=) c.3511_3513delinsGCT (p.Ala1171=) c.3061_3063delinsGCT (p.Ala1021=) c.1363_1365delinsGCT (p.Ala455=) c.1180_1182delinsGCT (p.Ala394=) c.3412_3414delinsGCT (p.Ala1138=) c.3364_3366delinsGCT (p.Ala1122=) c.3133_3135delinsGCT (p.Ala1045=) c.3034_3036delinsGCT (p.Ala1012=) c.2215_2217delinsGCT (p.Ala739=) n.3766_3768delinsGCT | |
| 13 | g.51941089G>A | CA388025938 | ATP7B | c.*1198C>T (n.*1198C>T) c.*2292C>T (n.*2292C>T) c.2927C>T (p.Ala976Val) c.3548C>T (p.Ala1183Val) c.3215C>T (p.Ala1072Val) c.3296C>T (p.Ala1099Val) c.3314C>T (p.Ala1105Val) n.3687C>T n.3911C>T c.2483C>T (p.Ala828Val) c.2258C>T (p.Ala753Val) c.3353C>T (p.Ala1118Val) c.1326C>T c.*649C>T (n.*649C>T) n.4292C>T n.2893C>T c.3404C>T (p.Ala1135Val) c.3452C>T (p.Ala1151Val) c.3512C>T (p.Ala1171Val) c.3062C>T (p.Ala1021Val) c.1364C>T (p.Ala455Val) c.1181C>T (p.Ala394Val) c.3413C>T (p.Ala1138Val) c.3365C>T (p.Ala1122Val) c.3134C>T (p.Ala1045Val) c.3035C>T (p.Ala1012Val) c.2216C>T (p.Ala739Val) n.3767C>T | dbSNP |
| 13 | g.51941089G>C | CA171321 | ATP7B | c.*1198C>G (n.*1198C>G) c.*2292C>G (n.*2292C>G) c.2927C>G (p.Ala976Gly) c.3548C>G (p.Ala1183Gly) c.3215C>G (p.Ala1072Gly) c.3296C>G (p.Ala1099Gly) c.3314C>G (p.Ala1105Gly) n.3687C>G n.3911C>G c.2483C>G (p.Ala828Gly) c.2258C>G (p.Ala753Gly) c.3353C>G (p.Ala1118Gly) c.1326C>G c.*649C>G (n.*649C>G) n.4292C>G n.2893C>G c.3404C>G (p.Ala1135Gly) c.3452C>G (p.Ala1151Gly) c.3512C>G (p.Ala1171Gly) c.3062C>G (p.Ala1021Gly) c.1364C>G (p.Ala455Gly) c.1181C>G (p.Ala394Gly) c.3413C>G (p.Ala1138Gly) c.3365C>G (p.Ala1122Gly) c.3134C>G (p.Ala1045Gly) c.3035C>G (p.Ala1012Gly) c.2216C>G (p.Ala739Gly) n.3767C>G | ClinVar dbSNP |
| 13 | g.51941089G= | CA2091559331 | ATP7B | c.*1198C= (n.*1198C=) c.*2292C= (n.*2292C=) c.2927C= (p.Ala976=) c.3548C= (p.Ala1183=) c.3215C= (p.Ala1072=) c.3296C= (p.Ala1099=) c.3314C= (p.Ala1105=) n.3687C= n.3911C= c.2483C= (p.Ala828=) c.2258C= (p.Ala753=) c.3353C= (p.Ala1118=) c.1326C= c.*649C= (n.*649C=) n.4292C= n.2893C= c.3404C= (p.Ala1135=) c.3452C= (p.Ala1151=) c.3512C= (p.Ala1171=) c.3062C= (p.Ala1021=) c.1364C= (p.Ala455=) c.1181C= (p.Ala394=) c.3413C= (p.Ala1138=) c.3365C= (p.Ala1122=) c.3134C= (p.Ala1045=) c.3035C= (p.Ala1012=) c.2216C= (p.Ala739=) n.3767C= | |
| 13 | g.51941089G>T | CA388025941 | ATP7B | c.*1198C>A (n.*1198C>A) c.*2292C>A (n.*2292C>A) c.2927C>A (p.Ala976Asp) c.3548C>A (p.Ala1183Asp) c.3215C>A (p.Ala1072Asp) c.3296C>A (p.Ala1099Asp) c.3314C>A (p.Ala1105Asp) n.3687C>A n.3911C>A c.2483C>A (p.Ala828Asp) c.2258C>A (p.Ala753Asp) c.3353C>A (p.Ala1118Asp) c.1326C>A c.*649C>A (n.*649C>A) n.4292C>A n.2893C>A c.3404C>A (p.Ala1135Asp) c.3452C>A (p.Ala1151Asp) c.3512C>A (p.Ala1171Asp) c.3062C>A (p.Ala1021Asp) c.1364C>A (p.Ala455Asp) c.1181C>A (p.Ala394Asp) c.3413C>A (p.Ala1138Asp) c.3365C>A (p.Ala1122Asp) c.3134C>A (p.Ala1045Asp) c.3035C>A (p.Ala1012Asp) c.2216C>A (p.Ala739Asp) n.3767C>A | |
| 13 | g.51941089_51941090del | CA250077096 | ATP7B | c.*1197_*1198del (n.*1197_*1198del) c.*2291_*2292del (n.*2291_*2292del) c.2926_2927del (p.Ala976TyrfsTer2) c.3547_3548del (p.Ala1183TyrfsTer2) c.3214_3215del (p.Ala1072TyrfsTer2) c.3295_3296del (p.Ala1099TyrfsTer2) c.3313_3314del (p.Ala1105TyrfsTer2) n.3686_3687del n.3910_3911del c.2482_2483del (p.Ala828TyrfsTer2) c.2257_2258del (p.Ala753TyrfsTer2) c.3352_3353del (p.Ala1118TyrfsTer2) c.1325_1326del c.*648_*649del (n.*648_*649del) n.4291_4292del n.2892_2893del c.3403_3404del (p.Ala1135TyrfsTer2) c.3451_3452del (p.Ala1151TyrfsTer2) c.3511_3512del (p.Ala1171TyrfsTer2) c.3061_3062del (p.Ala1021TyrfsTer2) c.1363_1364del (p.Ala455TyrfsTer2) c.1180_1181del (p.Ala394TyrfsTer2) c.3412_3413del (p.Ala1138TyrfsTer2) c.3364_3365del (p.Ala1122TyrfsTer2) c.3133_3134del (p.Ala1045TyrfsTer2) c.3034_3035del (p.Ala1012TyrfsTer2) c.2215_2216del (p.Ala739TyrfsTer2) n.3766_3767del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51941090C>A | CA388025944 | ATP7B | c.*1197G>T (n.*1197G>T) c.*2291G>T (n.*2291G>T) c.2926G>T (p.Ala976Ser) c.3547G>T (p.Ala1183Ser) c.3214G>T (p.Ala1072Ser) c.3295G>T (p.Ala1099Ser) c.3313G>T (p.Ala1105Ser) n.3686G>T n.3910G>T c.2482G>T (p.Ala828Ser) c.2257G>T (p.Ala753Ser) c.3352G>T (p.Ala1118Ser) c.1325G>T c.*648G>T (n.*648G>T) n.4291G>T n.2892G>T c.3403G>T (p.Ala1135Ser) c.3451G>T (p.Ala1151Ser) c.3511G>T (p.Ala1171Ser) c.3061G>T (p.Ala1021Ser) c.1363G>T (p.Ala455Ser) c.1180G>T (p.Ala394Ser) c.3412G>T (p.Ala1138Ser) c.3364G>T (p.Ala1122Ser) c.3133G>T (p.Ala1045Ser) c.3034G>T (p.Ala1012Ser) c.2215G>T (p.Ala739Ser) n.3766G>T | |
| 13 | g.51941090C>G | CA388025946 | ATP7B | c.*1197G>C (n.*1197G>C) c.*2291G>C (n.*2291G>C) c.2926G>C (p.Ala976Pro) c.3547G>C (p.Ala1183Pro) c.3214G>C (p.Ala1072Pro) c.3295G>C (p.Ala1099Pro) c.3313G>C (p.Ala1105Pro) n.3686G>C n.3910G>C c.2482G>C (p.Ala828Pro) c.2257G>C (p.Ala753Pro) c.3352G>C (p.Ala1118Pro) c.1325G>C c.*648G>C (n.*648G>C) n.4291G>C n.2892G>C c.3403G>C (p.Ala1135Pro) c.3451G>C (p.Ala1151Pro) c.3511G>C (p.Ala1171Pro) c.3061G>C (p.Ala1021Pro) c.1363G>C (p.Ala455Pro) c.1180G>C (p.Ala394Pro) c.3412G>C (p.Ala1138Pro) c.3364G>C (p.Ala1122Pro) c.3133G>C (p.Ala1045Pro) c.3034G>C (p.Ala1012Pro) c.2215G>C (p.Ala739Pro) n.3766G>C | |
| 13 | g.51941090C>T | CA388025947 | ATP7B | c.*1197G>A (n.*1197G>A) c.*2291G>A (n.*2291G>A) c.2926G>A (p.Ala976Thr) c.3547G>A (p.Ala1183Thr) c.3214G>A (p.Ala1072Thr) c.3295G>A (p.Ala1099Thr) c.3313G>A (p.Ala1105Thr) n.3686G>A n.3910G>A c.2482G>A (p.Ala828Thr) c.2257G>A (p.Ala753Thr) c.3352G>A (p.Ala1118Thr) c.1325G>A c.*648G>A (n.*648G>A) n.4291G>A n.2892G>A c.3403G>A (p.Ala1135Thr) c.3451G>A (p.Ala1151Thr) c.3511G>A (p.Ala1171Thr) c.3061G>A (p.Ala1021Thr) c.1363G>A (p.Ala455Thr) c.1180G>A (p.Ala394Thr) c.3412G>A (p.Ala1138Thr) c.3364G>A (p.Ala1122Thr) c.3133G>A (p.Ala1045Thr) c.3034G>A (p.Ala1012Thr) c.2215G>A (p.Ala739Thr) n.3766G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.51941091C>A | CA483893926 | ATP7B | c.*1196G>T (n.*1196G>T) c.*2290G>T (n.*2290G>T) c.2925G>T (p.Val975=) c.3546G>T (p.Val1182=) c.3213G>T (p.Val1071=) c.3294G>T (p.Val1098=) c.3312G>T (p.Val1104=) n.3685G>T n.3909G>T c.2481G>T (p.Val827=) c.2256G>T (p.Val752=) c.3351G>T (p.Val1117=) c.1324G>T c.*647G>T (n.*647G>T) n.4290G>T n.2891G>T c.3402G>T (p.Val1134=) c.3450G>T (p.Val1150=) c.3510G>T (p.Val1170=) c.3060G>T (p.Val1020=) c.1362G>T (p.Val454=) c.1179G>T (p.Val393=) c.3411G>T (p.Val1137=) c.3363G>T (p.Val1121=) c.3132G>T (p.Val1044=) c.3033G>T (p.Val1011=) c.2214G>T (p.Val738=) n.3765G>T | |
| 13 | g.51941091C>G | CA483893928 | ATP7B | c.*1196G>C (n.*1196G>C) c.*2290G>C (n.*2290G>C) c.2925G>C (p.Val975=) c.3546G>C (p.Val1182=) c.3213G>C (p.Val1071=) c.3294G>C (p.Val1098=) c.3312G>C (p.Val1104=) n.3685G>C n.3909G>C c.2481G>C (p.Val827=) c.2256G>C (p.Val752=) c.3351G>C (p.Val1117=) c.1324G>C c.*647G>C (n.*647G>C) n.4290G>C n.2891G>C c.3402G>C (p.Val1134=) c.3450G>C (p.Val1150=) c.3510G>C (p.Val1170=) c.3060G>C (p.Val1020=) c.1362G>C (p.Val454=) c.1179G>C (p.Val393=) c.3411G>C (p.Val1137=) c.3363G>C (p.Val1121=) c.3132G>C (p.Val1044=) c.3033G>C (p.Val1011=) c.2214G>C (p.Val738=) n.3765G>C | |
| 13 | g.51941091C>T | CA483893927 | ATP7B | c.*1196G>A (n.*1196G>A) c.*2290G>A (n.*2290G>A) c.2925G>A (p.Val975=) c.3546G>A (p.Val1182=) c.3213G>A (p.Val1071=) c.3294G>A (p.Val1098=) c.3312G>A (p.Val1104=) n.3685G>A n.3909G>A c.2481G>A (p.Val827=) c.2256G>A (p.Val752=) c.3351G>A (p.Val1117=) c.1324G>A c.*647G>A (n.*647G>A) n.4290G>A n.2891G>A c.3402G>A (p.Val1134=) c.3450G>A (p.Val1150=) c.3510G>A (p.Val1170=) c.3060G>A (p.Val1020=) c.1362G>A (p.Val454=) c.1179G>A (p.Val393=) c.3411G>A (p.Val1137=) c.3363G>A (p.Val1121=) c.3132G>A (p.Val1044=) c.3033G>A (p.Val1011=) c.2214G>A (p.Val738=) n.3765G>A | gnomAD v4 |
| 13 | g.51941092A>C | CA388025949 | ATP7B | c.*1195T>G (n.*1195T>G) c.*2289T>G (n.*2289T>G) c.2924T>G (p.Val975Gly) c.3545T>G (p.Val1182Gly) c.3212T>G (p.Val1071Gly) c.3293T>G (p.Val1098Gly) c.3311T>G (p.Val1104Gly) n.3684T>G n.3908T>G c.2480T>G (p.Val827Gly) c.2255T>G (p.Val752Gly) c.3350T>G (p.Val1117Gly) c.1323T>G c.*646T>G (n.*646T>G) n.4289T>G n.2890T>G c.3401T>G (p.Val1134Gly) c.3449T>G (p.Val1150Gly) c.3509T>G (p.Val1170Gly) c.3059T>G (p.Val1020Gly) c.1361T>G (p.Val454Gly) c.1178T>G (p.Val393Gly) c.3410T>G (p.Val1137Gly) c.3362T>G (p.Val1121Gly) c.3131T>G (p.Val1044Gly) c.3032T>G (p.Val1011Gly) c.2213T>G (p.Val738Gly) n.3764T>G | |
| 13 | g.51941092A>G | CA388025951 | ATP7B | c.*1195T>C (n.*1195T>C) c.*2289T>C (n.*2289T>C) c.2924T>C (p.Val975Ala) c.3545T>C (p.Val1182Ala) c.3212T>C (p.Val1071Ala) c.3293T>C (p.Val1098Ala) c.3311T>C (p.Val1104Ala) n.3684T>C n.3908T>C c.2480T>C (p.Val827Ala) c.2255T>C (p.Val752Ala) c.3350T>C (p.Val1117Ala) c.1323T>C c.*646T>C (n.*646T>C) n.4289T>C n.2890T>C c.3401T>C (p.Val1134Ala) c.3449T>C (p.Val1150Ala) c.3509T>C (p.Val1170Ala) c.3059T>C (p.Val1020Ala) c.1361T>C (p.Val454Ala) c.1178T>C (p.Val393Ala) c.3410T>C (p.Val1137Ala) c.3362T>C (p.Val1121Ala) c.3131T>C (p.Val1044Ala) c.3032T>C (p.Val1011Ala) c.2213T>C (p.Val738Ala) n.3764T>C | |
| 13 | g.51941092A>T | CA388025953 | ATP7B | c.*1195T>A (n.*1195T>A) c.*2289T>A (n.*2289T>A) c.2924T>A (p.Val975Glu) c.3545T>A (p.Val1182Glu) c.3212T>A (p.Val1071Glu) c.3293T>A (p.Val1098Glu) c.3311T>A (p.Val1104Glu) n.3684T>A n.3908T>A c.2480T>A (p.Val827Glu) c.2255T>A (p.Val752Glu) c.3350T>A (p.Val1117Glu) c.1323T>A c.*646T>A (n.*646T>A) n.4289T>A n.2890T>A c.3401T>A (p.Val1134Glu) c.3449T>A (p.Val1150Glu) c.3509T>A (p.Val1170Glu) c.3059T>A (p.Val1020Glu) c.1361T>A (p.Val454Glu) c.1178T>A (p.Val393Glu) c.3410T>A (p.Val1137Glu) c.3362T>A (p.Val1121Glu) c.3131T>A (p.Val1044Glu) c.3032T>A (p.Val1011Glu) c.2213T>A (p.Val738Glu) n.3764T>A | |
| 13 | g.51941092dup | CA2695199761 | ATP7B | c.*1195dup (n.*1195dup) c.*2289dup (n.*2289dup) c.2924dup (p.Ala976GlyfsTer3) c.3545dup (p.Ala1183GlyfsTer3) c.3212dup (p.Ala1072GlyfsTer3) c.3293dup (p.Ala1099GlyfsTer3) c.3311dup (p.Ala1105GlyfsTer3) n.3684dup n.3908dup c.2480dup (p.Ala828GlyfsTer3) c.2255dup (p.Ala753GlyfsTer3) c.3350dup (p.Ala1118GlyfsTer3) c.1323dup c.*646dup (n.*646dup) n.4289dup n.2890dup c.3401dup (p.Ala1135GlyfsTer3) c.3449dup (p.Ala1151GlyfsTer3) c.3509dup (p.Ala1171GlyfsTer3) c.3059dup (p.Ala1021GlyfsTer3) c.1361dup (p.Ala455GlyfsTer3) c.1178dup (p.Ala394GlyfsTer3) c.3410dup (p.Ala1138GlyfsTer3) c.3362dup (p.Ala1122GlyfsTer3) c.3131dup (p.Ala1045GlyfsTer3) c.3032dup (p.Ala1012GlyfsTer3) c.2213dup (p.Ala739GlyfsTer3) n.3764dup | ClinVar |
| 13 | g.51941093C>A | CA388025959 | ATP7B | c.*1194G>T (n.*1194G>T) c.*2288G>T (n.*2288G>T) c.2923G>T (p.Val975Leu) c.3544G>T (p.Val1182Leu) c.3211G>T (p.Val1071Leu) c.3292G>T (p.Val1098Leu) c.3310G>T (p.Val1104Leu) n.3683G>T n.3907G>T c.2479G>T (p.Val827Leu) c.2254G>T (p.Val752Leu) c.3349G>T (p.Val1117Leu) c.1322G>T c.*645G>T (n.*645G>T) n.4288G>T n.2889G>T c.3400G>T (p.Val1134Leu) c.3448G>T (p.Val1150Leu) c.3508G>T (p.Val1170Leu) c.3058G>T (p.Val1020Leu) c.1360G>T (p.Val454Leu) c.1177G>T (p.Val393Leu) c.3409G>T (p.Val1137Leu) c.3361G>T (p.Val1121Leu) c.3130G>T (p.Val1044Leu) c.3031G>T (p.Val1011Leu) c.2212G>T (p.Val738Leu) n.3763G>T | dbSNP |
| 13 | g.51941093C= | CA2091559342 | ATP7B | c.*1194G= (n.*1194G=) c.*2288G= (n.*2288G=) c.2923G= (p.Val975=) c.3544G= (p.Val1182=) c.3211G= (p.Val1071=) c.3292G= (p.Val1098=) c.3310G= (p.Val1104=) n.3683G= n.3907G= c.2479G= (p.Val827=) c.2254G= (p.Val752=) c.3349G= (p.Val1117=) c.1322G= c.*645G= (n.*645G=) n.4288G= n.2889G= c.3400G= (p.Val1134=) c.3448G= (p.Val1150=) c.3508G= (p.Val1170=) c.3058G= (p.Val1020=) c.1360G= (p.Val454=) c.1177G= (p.Val393=) c.3409G= (p.Val1137=) c.3361G= (p.Val1121=) c.3130G= (p.Val1044=) c.3031G= (p.Val1011=) c.2212G= (p.Val738=) n.3763G= | |
| 13 | g.51941093C>G | CA388025964 | ATP7B | c.*1194G>C (n.*1194G>C) c.*2288G>C (n.*2288G>C) c.2923G>C (p.Val975Leu) c.3544G>C (p.Val1182Leu) c.3211G>C (p.Val1071Leu) c.3292G>C (p.Val1098Leu) c.3310G>C (p.Val1104Leu) n.3683G>C n.3907G>C c.2479G>C (p.Val827Leu) c.2254G>C (p.Val752Leu) c.3349G>C (p.Val1117Leu) c.1322G>C c.*645G>C (n.*645G>C) n.4288G>C n.2889G>C c.3400G>C (p.Val1134Leu) c.3448G>C (p.Val1150Leu) c.3508G>C (p.Val1170Leu) c.3058G>C (p.Val1020Leu) c.1360G>C (p.Val454Leu) c.1177G>C (p.Val393Leu) c.3409G>C (p.Val1137Leu) c.3361G>C (p.Val1121Leu) c.3130G>C (p.Val1044Leu) c.3031G>C (p.Val1011Leu) c.2212G>C (p.Val738Leu) n.3763G>C | |
| 13 | g.51941093C>T | CA388025967 | ATP7B | c.*1194G>A (n.*1194G>A) c.*2288G>A (n.*2288G>A) c.2923G>A (p.Val975Met) c.3544G>A (p.Val1182Met) c.3211G>A (p.Val1071Met) c.3292G>A (p.Val1098Met) c.3310G>A (p.Val1104Met) n.3683G>A n.3907G>A c.2479G>A (p.Val827Met) c.2254G>A (p.Val752Met) c.3349G>A (p.Val1117Met) c.1322G>A c.*645G>A (n.*645G>A) n.4288G>A n.2889G>A c.3400G>A (p.Val1134Met) c.3448G>A (p.Val1150Met) c.3508G>A (p.Val1170Met) c.3058G>A (p.Val1020Met) c.1360G>A (p.Val454Met) c.1177G>A (p.Val393Met) c.3409G>A (p.Val1137Met) c.3361G>A (p.Val1121Met) c.3130G>A (p.Val1044Met) c.3031G>A (p.Val1011Met) c.2212G>A (p.Val738Met) n.3763G>A | |
| 13 | g.51941094C>A | CA483893929 | ATP7B | c.*1193G>T (n.*1193G>T) c.*2287G>T (n.*2287G>T) c.2922G>T (p.Leu974=) c.3543G>T (p.Leu1181=) c.3210G>T (p.Leu1070=) c.3291G>T (p.Leu1097=) c.3309G>T (p.Leu1103=) n.3682G>T n.3906G>T c.2478G>T (p.Leu826=) c.2253G>T (p.Leu751=) c.3348G>T (p.Leu1116=) c.1321G>T c.*644G>T (n.*644G>T) n.4287G>T n.2888G>T c.3399G>T (p.Leu1133=) c.3447G>T (p.Leu1149=) c.3507G>T (p.Leu1169=) c.3057G>T (p.Leu1019=) c.1359G>T (p.Leu453=) c.1176G>T (p.Leu392=) c.3408G>T (p.Leu1136=) c.3360G>T (p.Leu1120=) c.3129G>T (p.Leu1043=) c.3030G>T (p.Leu1010=) c.2211G>T (p.Leu737=) n.3762G>T | |
| 13 | g.51941094C= | CA2091559346 | ATP7B | c.*1193G= (n.*1193G=) c.*2287G= (n.*2287G=) c.2922G= (p.Leu974=) c.3543G= (p.Leu1181=) c.3210G= (p.Leu1070=) c.3291G= (p.Leu1097=) c.3309G= (p.Leu1103=) n.3682G= n.3906G= c.2478G= (p.Leu826=) c.2253G= (p.Leu751=) c.3348G= (p.Leu1116=) c.1321G= c.*644G= (n.*644G=) n.4287G= n.2888G= c.3399G= (p.Leu1133=) c.3447G= (p.Leu1149=) c.3507G= (p.Leu1169=) c.3057G= (p.Leu1019=) c.1359G= (p.Leu453=) c.1176G= (p.Leu392=) c.3408G= (p.Leu1136=) c.3360G= (p.Leu1120=) c.3129G= (p.Leu1043=) c.3030G= (p.Leu1010=) c.2211G= (p.Leu737=) n.3762G= | |
| 13 | g.51941094C>G | CA250077102 | ATP7B | c.*1193G>C (n.*1193G>C) c.*2287G>C (n.*2287G>C) c.2922G>C (p.Leu974=) c.3543G>C (p.Leu1181=) c.3210G>C (p.Leu1070=) c.3291G>C (p.Leu1097=) c.3309G>C (p.Leu1103=) n.3682G>C n.3906G>C c.2478G>C (p.Leu826=) c.2253G>C (p.Leu751=) c.3348G>C (p.Leu1116=) c.1321G>C c.*644G>C (n.*644G>C) n.4287G>C n.2888G>C c.3399G>C (p.Leu1133=) c.3447G>C (p.Leu1149=) c.3507G>C (p.Leu1169=) c.3057G>C (p.Leu1019=) c.1359G>C (p.Leu453=) c.1176G>C (p.Leu392=) c.3408G>C (p.Leu1136=) c.3360G>C (p.Leu1120=) c.3129G>C (p.Leu1043=) c.3030G>C (p.Leu1010=) c.2211G>C (p.Leu737=) n.3762G>C | dbSNP gnomAD v4 |
| 13 | g.51941094C>T | CA483893930 | ATP7B | c.*1193G>A (n.*1193G>A) c.*2287G>A (n.*2287G>A) c.2922G>A (p.Leu974=) c.3543G>A (p.Leu1181=) c.3210G>A (p.Leu1070=) c.3291G>A (p.Leu1097=) c.3309G>A (p.Leu1103=) n.3682G>A n.3906G>A c.2478G>A (p.Leu826=) c.2253G>A (p.Leu751=) c.3348G>A (p.Leu1116=) c.1321G>A c.*644G>A (n.*644G>A) n.4287G>A n.2888G>A c.3399G>A (p.Leu1133=) c.3447G>A (p.Leu1149=) c.3507G>A (p.Leu1169=) c.3057G>A (p.Leu1019=) c.1359G>A (p.Leu453=) c.1176G>A (p.Leu392=) c.3408G>A (p.Leu1136=) c.3360G>A (p.Leu1120=) c.3129G>A (p.Leu1043=) c.3030G>A (p.Leu1010=) c.2211G>A (p.Leu737=) n.3762G>A | |
| 13 | g.51941095A>C | CA388025979 | ATP7B | c.*1192T>G (n.*1192T>G) c.*2286T>G (n.*2286T>G) c.2921T>G (p.Leu974Arg) c.3542T>G (p.Leu1181Arg) c.3209T>G (p.Leu1070Arg) c.3290T>G (p.Leu1097Arg) c.3308T>G (p.Leu1103Arg) n.3681T>G n.3905T>G c.2477T>G (p.Leu826Arg) c.2252T>G (p.Leu751Arg) c.3347T>G (p.Leu1116Arg) c.1320T>G c.*643T>G (n.*643T>G) n.4286T>G n.2887T>G c.3398T>G (p.Leu1133Arg) c.3446T>G (p.Leu1149Arg) c.3506T>G (p.Leu1169Arg) c.3056T>G (p.Leu1019Arg) c.1358T>G (p.Leu453Arg) c.1175T>G (p.Leu392Arg) c.3407T>G (p.Leu1136Arg) c.3359T>G (p.Leu1120Arg) c.3128T>G (p.Leu1043Arg) c.3029T>G (p.Leu1010Arg) c.2210T>G (p.Leu737Arg) n.3761T>G | |
| 13 | g.51941095A>G | CA388025974 | ATP7B | c.*1192T>C (n.*1192T>C) c.*2286T>C (n.*2286T>C) c.2921T>C (p.Leu974Pro) c.3542T>C (p.Leu1181Pro) c.3209T>C (p.Leu1070Pro) c.3290T>C (p.Leu1097Pro) c.3308T>C (p.Leu1103Pro) n.3681T>C n.3905T>C c.2477T>C (p.Leu826Pro) c.2252T>C (p.Leu751Pro) c.3347T>C (p.Leu1116Pro) c.1320T>C c.*643T>C (n.*643T>C) n.4286T>C n.2887T>C c.3398T>C (p.Leu1133Pro) c.3446T>C (p.Leu1149Pro) c.3506T>C (p.Leu1169Pro) c.3056T>C (p.Leu1019Pro) c.1358T>C (p.Leu453Pro) c.1175T>C (p.Leu392Pro) c.3407T>C (p.Leu1136Pro) c.3359T>C (p.Leu1120Pro) c.3128T>C (p.Leu1043Pro) c.3029T>C (p.Leu1010Pro) c.2210T>C (p.Leu737Pro) n.3761T>C | gnomAD v4 |
| 13 | g.51941095A>T | CA388025972 | ATP7B | c.*1192T>A (n.*1192T>A) c.*2286T>A (n.*2286T>A) c.2921T>A (p.Leu974Gln) c.3542T>A (p.Leu1181Gln) c.3209T>A (p.Leu1070Gln) c.3290T>A (p.Leu1097Gln) c.3308T>A (p.Leu1103Gln) n.3681T>A n.3905T>A c.2477T>A (p.Leu826Gln) c.2252T>A (p.Leu751Gln) c.3347T>A (p.Leu1116Gln) c.1320T>A c.*643T>A (n.*643T>A) n.4286T>A n.2887T>A c.3398T>A (p.Leu1133Gln) c.3446T>A (p.Leu1149Gln) c.3506T>A (p.Leu1169Gln) c.3056T>A (p.Leu1019Gln) c.1358T>A (p.Leu453Gln) c.1175T>A (p.Leu392Gln) c.3407T>A (p.Leu1136Gln) c.3359T>A (p.Leu1120Gln) c.3128T>A (p.Leu1043Gln) c.3029T>A (p.Leu1010Gln) c.2210T>A (p.Leu737Gln) n.3761T>A | |
| 13 | g.51941096G>A | CA483893931 | ATP7B | c.*1191C>T (n.*1191C>T) c.*2285C>T (n.*2285C>T) c.2920C>T (p.Leu974=) c.3541C>T (p.Leu1181=) c.3208C>T (p.Leu1070=) c.3289C>T (p.Leu1097=) c.3307C>T (p.Leu1103=) n.3680C>T n.3904C>T c.2476C>T (p.Leu826=) c.2251C>T (p.Leu751=) c.3346C>T (p.Leu1116=) c.1319C>T c.*642C>T (n.*642C>T) n.4285C>T n.2886C>T c.3397C>T (p.Leu1133=) c.3445C>T (p.Leu1149=) c.3505C>T (p.Leu1169=) c.3055C>T (p.Leu1019=) c.1357C>T (p.Leu453=) c.1174C>T (p.Leu392=) c.3406C>T (p.Leu1136=) c.3358C>T (p.Leu1120=) c.3127C>T (p.Leu1043=) c.3028C>T (p.Leu1010=) c.2209C>T (p.Leu737=) n.3760C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51941096G>C | CA6988665 | ATP7B | c.*1191C>G (n.*1191C>G) c.*2285C>G (n.*2285C>G) c.2920C>G (p.Leu974Val) c.3541C>G (p.Leu1181Val) c.3208C>G (p.Leu1070Val) c.3289C>G (p.Leu1097Val) c.3307C>G (p.Leu1103Val) n.3680C>G n.3904C>G c.2476C>G (p.Leu826Val) c.2251C>G (p.Leu751Val) c.3346C>G (p.Leu1116Val) c.1319C>G c.*642C>G (n.*642C>G) n.4285C>G n.2886C>G c.3397C>G (p.Leu1133Val) c.3445C>G (p.Leu1149Val) c.3505C>G (p.Leu1169Val) c.3055C>G (p.Leu1019Val) c.1357C>G (p.Leu453Val) c.1174C>G (p.Leu392Val) c.3406C>G (p.Leu1136Val) c.3358C>G (p.Leu1120Val) c.3127C>G (p.Leu1043Val) c.3028C>G (p.Leu1010Val) c.2209C>G (p.Leu737Val) n.3760C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51941096G= | CA2091559350 | ATP7B | c.*1191C= (n.*1191C=) c.*2285C= (n.*2285C=) c.2920C= (p.Leu974=) c.3541C= (p.Leu1181=) c.3208C= (p.Leu1070=) c.3289C= (p.Leu1097=) c.3307C= (p.Leu1103=) n.3680C= n.3904C= c.2476C= (p.Leu826=) c.2251C= (p.Leu751=) c.3346C= (p.Leu1116=) c.1319C= c.*642C= (n.*642C=) n.4285C= n.2886C= c.3397C= (p.Leu1133=) c.3445C= (p.Leu1149=) c.3505C= (p.Leu1169=) c.3055C= (p.Leu1019=) c.1357C= (p.Leu453=) c.1174C= (p.Leu392=) c.3406C= (p.Leu1136=) c.3358C= (p.Leu1120=) c.3127C= (p.Leu1043=) c.3028C= (p.Leu1010=) c.2209C= (p.Leu737=) n.3760C= | |
| 13 | g.51941096G>T | CA388025982 | ATP7B | c.*1191C>A (n.*1191C>A) c.*2285C>A (n.*2285C>A) c.2920C>A (p.Leu974Met) c.3541C>A (p.Leu1181Met) c.3208C>A (p.Leu1070Met) c.3289C>A (p.Leu1097Met) c.3307C>A (p.Leu1103Met) n.3680C>A n.3904C>A c.2476C>A (p.Leu826Met) c.2251C>A (p.Leu751Met) c.3346C>A (p.Leu1116Met) c.1319C>A c.*642C>A (n.*642C>A) n.4285C>A n.2886C>A c.3397C>A (p.Leu1133Met) c.3445C>A (p.Leu1149Met) c.3505C>A (p.Leu1169Met) c.3055C>A (p.Leu1019Met) c.1357C>A (p.Leu453Met) c.1174C>A (p.Leu392Met) c.3406C>A (p.Leu1136Met) c.3358C>A (p.Leu1120Met) c.3127C>A (p.Leu1043Met) c.3028C>A (p.Leu1010Met) c.2209C>A (p.Leu737Met) n.3760C>A | |
| 13 | g.51941097G>A | CA483893932 | ATP7B | c.*1190C>T (n.*1190C>T) c.*2284C>T (n.*2284C>T) c.2919C>T (p.Ile973=) c.3540C>T (p.Ile1180=) c.3207C>T (p.Ile1069=) c.3288C>T (p.Ile1096=) c.3306C>T (p.Ile1102=) n.3679C>T n.3903C>T c.2475C>T (p.Ile825=) c.2250C>T (p.Ile750=) c.3345C>T (p.Ile1115=) c.1318C>T c.*641C>T (n.*641C>T) n.4284C>T n.2885C>T c.3396C>T (p.Ile1132=) c.3444C>T (p.Ile1148=) c.3504C>T (p.Ile1168=) c.3054C>T (p.Ile1018=) c.1356C>T (p.Ile452=) c.1173C>T (p.Ile391=) c.3405C>T (p.Ile1135=) c.3357C>T (p.Ile1119=) c.3126C>T (p.Ile1042=) c.3027C>T (p.Ile1009=) c.2208C>T (p.Ile736=) n.3759C>T | |
| 13 | g.51941097G>C | CA388025987 | ATP7B | c.*1190C>G (n.*1190C>G) c.*2284C>G (n.*2284C>G) c.2919C>G (p.Ile973Met) c.3540C>G (p.Ile1180Met) c.3207C>G (p.Ile1069Met) c.3288C>G (p.Ile1096Met) c.3306C>G (p.Ile1102Met) n.3679C>G n.3903C>G c.2475C>G (p.Ile825Met) c.2250C>G (p.Ile750Met) c.3345C>G (p.Ile1115Met) c.1318C>G c.*641C>G (n.*641C>G) n.4284C>G n.2885C>G c.3396C>G (p.Ile1132Met) c.3444C>G (p.Ile1148Met) c.3504C>G (p.Ile1168Met) c.3054C>G (p.Ile1018Met) c.1356C>G (p.Ile452Met) c.1173C>G (p.Ile391Met) c.3405C>G (p.Ile1135Met) c.3357C>G (p.Ile1119Met) c.3126C>G (p.Ile1042Met) c.3027C>G (p.Ile1009Met) c.2208C>G (p.Ile736Met) n.3759C>G | |
| 13 | g.51941097G>T | CA483893933 | ATP7B | c.*1190C>A (n.*1190C>A) c.*2284C>A (n.*2284C>A) c.2919C>A (p.Ile973=) c.3540C>A (p.Ile1180=) c.3207C>A (p.Ile1069=) c.3288C>A (p.Ile1096=) c.3306C>A (p.Ile1102=) n.3679C>A n.3903C>A c.2475C>A (p.Ile825=) c.2250C>A (p.Ile750=) c.3345C>A (p.Ile1115=) c.1318C>A c.*641C>A (n.*641C>A) n.4284C>A n.2885C>A c.3396C>A (p.Ile1132=) c.3444C>A (p.Ile1148=) c.3504C>A (p.Ile1168=) c.3054C>A (p.Ile1018=) c.1356C>A (p.Ile452=) c.1173C>A (p.Ile391=) c.3405C>A (p.Ile1135=) c.3357C>A (p.Ile1119=) c.3126C>A (p.Ile1042=) c.3027C>A (p.Ile1009=) c.2208C>A (p.Ile736=) n.3759C>A | |
| 13 | g.51941098A>C | CA388025989 | ATP7B | c.*1189T>G (n.*1189T>G) c.*2283T>G (n.*2283T>G) c.2918T>G (p.Ile973Ser) c.3539T>G (p.Ile1180Ser) c.3206T>G (p.Ile1069Ser) c.3287T>G (p.Ile1096Ser) c.3305T>G (p.Ile1102Ser) n.3678T>G n.3902T>G c.2474T>G (p.Ile825Ser) c.2249T>G (p.Ile750Ser) c.3344T>G (p.Ile1115Ser) c.1317T>G c.*640T>G (n.*640T>G) n.4283T>G n.2884T>G c.3395T>G (p.Ile1132Ser) c.3443T>G (p.Ile1148Ser) c.3503T>G (p.Ile1168Ser) c.3053T>G (p.Ile1018Ser) c.1355T>G (p.Ile452Ser) c.1172T>G (p.Ile391Ser) c.3404T>G (p.Ile1135Ser) c.3356T>G (p.Ile1119Ser) c.3125T>G (p.Ile1042Ser) c.3026T>G (p.Ile1009Ser) c.2207T>G (p.Ile736Ser) n.3758T>G | |
| 13 | g.51941098A>G | CA388025990 | ATP7B | c.*1189T>C (n.*1189T>C) c.*2283T>C (n.*2283T>C) c.2918T>C (p.Ile973Thr) c.3539T>C (p.Ile1180Thr) c.3206T>C (p.Ile1069Thr) c.3287T>C (p.Ile1096Thr) c.3305T>C (p.Ile1102Thr) n.3678T>C n.3902T>C c.2474T>C (p.Ile825Thr) c.2249T>C (p.Ile750Thr) c.3344T>C (p.Ile1115Thr) c.1317T>C c.*640T>C (n.*640T>C) n.4283T>C n.2884T>C c.3395T>C (p.Ile1132Thr) c.3443T>C (p.Ile1148Thr) c.3503T>C (p.Ile1168Thr) c.3053T>C (p.Ile1018Thr) c.1355T>C (p.Ile452Thr) c.1172T>C (p.Ile391Thr) c.3404T>C (p.Ile1135Thr) c.3356T>C (p.Ile1119Thr) c.3125T>C (p.Ile1042Thr) c.3026T>C (p.Ile1009Thr) c.2207T>C (p.Ile736Thr) n.3758T>C | |
| 13 | g.51941098A>T | CA388025992 | ATP7B | c.*1189T>A (n.*1189T>A) c.*2283T>A (n.*2283T>A) c.2918T>A (p.Ile973Asn) c.3539T>A (p.Ile1180Asn) c.3206T>A (p.Ile1069Asn) c.3287T>A (p.Ile1096Asn) c.3305T>A (p.Ile1102Asn) n.3678T>A n.3902T>A c.2474T>A (p.Ile825Asn) c.2249T>A (p.Ile750Asn) c.3344T>A (p.Ile1115Asn) c.1317T>A c.*640T>A (n.*640T>A) n.4283T>A n.2884T>A c.3395T>A (p.Ile1132Asn) c.3443T>A (p.Ile1148Asn) c.3503T>A (p.Ile1168Asn) c.3053T>A (p.Ile1018Asn) c.1355T>A (p.Ile452Asn) c.1172T>A (p.Ile391Asn) c.3404T>A (p.Ile1135Asn) c.3356T>A (p.Ile1119Asn) c.3125T>A (p.Ile1042Asn) c.3026T>A (p.Ile1009Asn) c.2207T>A (p.Ile736Asn) n.3758T>A | |
| 13 | g.51941099del | CA2695218782 | ATP7B | c.*1188del (n.*1188del) c.*2282del (n.*2282del) c.2917del (p.Ile973SerfsTer12) c.3538del (p.Ile1180SerfsTer12) c.3205del (p.Ile1069SerfsTer12) c.3286del (p.Ile1096SerfsTer12) c.3304del (p.Ile1102SerfsTer12) n.3677del n.3901del c.2473del (p.Ile825SerfsTer12) c.2248del (p.Ile750SerfsTer12) c.3343del (p.Ile1115SerfsTer12) c.1316del c.*639del (n.*639del) n.4282del n.2883del c.3394del (p.Ile1132SerfsTer12) c.3442del (p.Ile1148SerfsTer12) c.3502del (p.Ile1168SerfsTer12) c.3052del (p.Ile1018SerfsTer12) c.1354del (p.Ile452SerfsTer12) c.1171del (p.Ile391SerfsTer12) c.3403del (p.Ile1135SerfsTer12) c.3355del (p.Ile1119SerfsTer12) c.3124del (p.Ile1042SerfsTer12) c.3025del (p.Ile1009SerfsTer12) c.2206del (p.Ile736SerfsTer12) n.3757del | |
| 13 | g.51941099T>A | CA388026003 | ATP7B | c.*1188A>T (n.*1188A>T) c.*2282A>T (n.*2282A>T) c.2917A>T (p.Ile973Phe) c.3538A>T (p.Ile1180Phe) c.3205A>T (p.Ile1069Phe) c.3286A>T (p.Ile1096Phe) c.3304A>T (p.Ile1102Phe) n.3677A>T n.3901A>T c.2473A>T (p.Ile825Phe) c.2248A>T (p.Ile750Phe) c.3343A>T (p.Ile1115Phe) c.1316A>T c.*639A>T (n.*639A>T) n.4282A>T n.2883A>T c.3394A>T (p.Ile1132Phe) c.3442A>T (p.Ile1148Phe) c.3502A>T (p.Ile1168Phe) c.3052A>T (p.Ile1018Phe) c.1354A>T (p.Ile452Phe) c.1171A>T (p.Ile391Phe) c.3403A>T (p.Ile1135Phe) c.3355A>T (p.Ile1119Phe) c.3124A>T (p.Ile1042Phe) c.3025A>T (p.Ile1009Phe) c.2206A>T (p.Ile736Phe) n.3757A>T | dbSNP gnomAD v2 |
| 13 | g.51941099T>C | CA388025999 | ATP7B | c.*1188A>G (n.*1188A>G) c.*2282A>G (n.*2282A>G) c.2917A>G (p.Ile973Val) c.3538A>G (p.Ile1180Val) c.3205A>G (p.Ile1069Val) c.3286A>G (p.Ile1096Val) c.3304A>G (p.Ile1102Val) n.3677A>G n.3901A>G c.2473A>G (p.Ile825Val) c.2248A>G (p.Ile750Val) c.3343A>G (p.Ile1115Val) c.1316A>G c.*639A>G (n.*639A>G) n.4282A>G n.2883A>G c.3394A>G (p.Ile1132Val) c.3442A>G (p.Ile1148Val) c.3502A>G (p.Ile1168Val) c.3052A>G (p.Ile1018Val) c.1354A>G (p.Ile452Val) c.1171A>G (p.Ile391Val) c.3403A>G (p.Ile1135Val) c.3355A>G (p.Ile1119Val) c.3124A>G (p.Ile1042Val) c.3025A>G (p.Ile1009Val) c.2206A>G (p.Ile736Val) n.3757A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51941099T>G | CA388025995 | ATP7B | c.*1188A>C (n.*1188A>C) c.*2282A>C (n.*2282A>C) c.2917A>C (p.Ile973Leu) c.3538A>C (p.Ile1180Leu) c.3205A>C (p.Ile1069Leu) c.3286A>C (p.Ile1096Leu) c.3304A>C (p.Ile1102Leu) n.3677A>C n.3901A>C c.2473A>C (p.Ile825Leu) c.2248A>C (p.Ile750Leu) c.3343A>C (p.Ile1115Leu) c.1316A>C c.*639A>C (n.*639A>C) n.4282A>C n.2883A>C c.3394A>C (p.Ile1132Leu) c.3442A>C (p.Ile1148Leu) c.3502A>C (p.Ile1168Leu) c.3052A>C (p.Ile1018Leu) c.1354A>C (p.Ile452Leu) c.1171A>C (p.Ile391Leu) c.3403A>C (p.Ile1135Leu) c.3355A>C (p.Ile1119Leu) c.3124A>C (p.Ile1042Leu) c.3025A>C (p.Ile1009Leu) c.2206A>C (p.Ile736Leu) n.3757A>C |