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.51937489_51937491del | CA2580614733 | ATP7B | c.*1542_*1544del (n.*1542_*1544del) c.*2636_*2638del (n.*2636_*2638del) c.3271_3273del (p.Val1091del) c.3892_3894del (p.Val1298del) c.3559_3561del (p.Val1187del) c.3640_3642del (p.Val1214del) n.1133_1135del c.3658_3660del (p.Val1220del) n.4031_4033del n.758_760del c.2827_2829del (p.Val943del) c.2602_2604del (p.Val868del) c.3697_3699del (p.Val1233del) c.1670_1672del c.*993_*995del (n.*993_*995del) n.4636_4638del n.3237_3239del c.3748_3750del (p.Val1250del) c.3796_3798del (p.Val1266del) c.3856_3858del (p.Val1286del) c.3406_3408del (p.Val1136del) c.1708_1710del (p.Val570del) c.1525_1527del (p.Val509del) c.3757_3759del (p.Val1253del) c.3709_3711del (p.Val1237del) c.3478_3480del (p.Val1160del) c.3379_3381del (p.Val1127del) c.2560_2562del (p.Val854del) n.4111_4113del | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937487_51937496delinsTG | CA2695218744 | ATP7B | c.*1533_*1542delinsCA (n.*1533_*1542delinsCA) c.*2627_*2636delinsCA (n.*2627_*2636delinsCA) c.3262_3271delinsCA (p.Ala1088HisfsTer6) c.3883_3892delinsCA (p.Ala1295HisfsTer6) c.3550_3559delinsCA (p.Ala1184HisfsTer6) c.3631_3640delinsCA (p.Ala1211HisfsTer6) n.1124_1133delinsCA c.3649_3658delinsCA (p.Ala1217HisfsTer6) n.4022_4031delinsCA n.749_758delinsCA c.2818_2827delinsCA (p.Ala940HisfsTer6) c.2593_2602delinsCA (p.Ala865HisfsTer6) c.3688_3697delinsCA (p.Ala1230HisfsTer6) c.1661_1670delinsCA c.*984_*993delinsCA (n.*984_*993delinsCA) n.4627_4636delinsCA n.3228_3237delinsCA c.3739_3748delinsCA (p.Ala1247HisfsTer6) c.3787_3796delinsCA (p.Ala1263HisfsTer6) c.3847_3856delinsCA (p.Ala1283HisfsTer6) c.3397_3406delinsCA (p.Ala1133HisfsTer6) c.1699_1708delinsCA (p.Ala567HisfsTer6) c.1516_1525delinsCA (p.Ala506HisfsTer6) c.3748_3757delinsCA (p.Ala1250HisfsTer6) c.3700_3709delinsCA (p.Ala1234HisfsTer6) c.3469_3478delinsCA (p.Ala1157HisfsTer6) c.3370_3379delinsCA (p.Ala1124HisfsTer6) c.2551_2560delinsCA (p.Ala851HisfsTer6) n.4102_4111delinsCA | |
| 13 | g.51937489A>C | CA388021408 | ATP7B | c.*1540T>G (n.*1540T>G) c.*2634T>G (n.*2634T>G) c.3269T>G (p.Val1090Gly) c.3890T>G (p.Val1297Gly) c.3557T>G (p.Val1186Gly) c.3638T>G (p.Val1213Gly) n.1131T>G c.3656T>G (p.Val1219Gly) n.4029T>G n.756T>G c.2825T>G (p.Val942Gly) c.2600T>G (p.Val867Gly) c.3695T>G (p.Val1232Gly) c.1668T>G c.*991T>G (n.*991T>G) n.4634T>G n.3235T>G c.3746T>G (p.Val1249Gly) c.3794T>G (p.Val1265Gly) c.3854T>G (p.Val1285Gly) c.3404T>G (p.Val1135Gly) c.1706T>G (p.Val569Gly) c.1523T>G (p.Val508Gly) c.3755T>G (p.Val1252Gly) c.3707T>G (p.Val1236Gly) c.3476T>G (p.Val1159Gly) c.3377T>G (p.Val1126Gly) c.2558T>G (p.Val853Gly) n.4109T>G | |
| 13 | g.51937489A>G | CA388021406 | ATP7B | c.*1540T>C (n.*1540T>C) c.*2634T>C (n.*2634T>C) c.3269T>C (p.Val1090Ala) c.3890T>C (p.Val1297Ala) c.3557T>C (p.Val1186Ala) c.3638T>C (p.Val1213Ala) n.1131T>C c.3656T>C (p.Val1219Ala) n.4029T>C n.756T>C c.2825T>C (p.Val942Ala) c.2600T>C (p.Val867Ala) c.3695T>C (p.Val1232Ala) c.1668T>C c.*991T>C (n.*991T>C) n.4634T>C n.3235T>C c.3746T>C (p.Val1249Ala) c.3794T>C (p.Val1265Ala) c.3854T>C (p.Val1285Ala) c.3404T>C (p.Val1135Ala) c.1706T>C (p.Val569Ala) c.1523T>C (p.Val508Ala) c.3755T>C (p.Val1252Ala) c.3707T>C (p.Val1236Ala) c.3476T>C (p.Val1159Ala) c.3377T>C (p.Val1126Ala) c.2558T>C (p.Val853Ala) n.4109T>C | gnomAD v4 |
| 13 | g.51937489A>T | CA388021404 | ATP7B | c.*1540T>A (n.*1540T>A) c.*2634T>A (n.*2634T>A) c.3269T>A (p.Val1090Asp) c.3890T>A (p.Val1297Asp) c.3557T>A (p.Val1186Asp) c.3638T>A (p.Val1213Asp) n.1131T>A c.3656T>A (p.Val1219Asp) n.4029T>A n.756T>A c.2825T>A (p.Val942Asp) c.2600T>A (p.Val867Asp) c.3695T>A (p.Val1232Asp) c.1668T>A c.*991T>A (n.*991T>A) n.4634T>A n.3235T>A c.3746T>A (p.Val1249Asp) c.3794T>A (p.Val1265Asp) c.3854T>A (p.Val1285Asp) c.3404T>A (p.Val1135Asp) c.1706T>A (p.Val569Asp) c.1523T>A (p.Val508Asp) c.3755T>A (p.Val1252Asp) c.3707T>A (p.Val1236Asp) c.3476T>A (p.Val1159Asp) c.3377T>A (p.Val1126Asp) c.2558T>A (p.Val853Asp) n.4109T>A | |
| 13 | g.51937489_51937496del | CA2573149694 | ATP7B | c.*1533_*1540del (n.*1533_*1540del) c.*2627_*2634del (n.*2627_*2634del) c.3262_3269del (p.Ala1088ArgfsTer6) c.3883_3890del (p.Ala1295ArgfsTer6) c.3550_3557del (p.Ala1184ArgfsTer6) c.3631_3638del (p.Ala1211ArgfsTer6) n.1124_1131del c.3649_3656del (p.Ala1217ArgfsTer6) n.4022_4029del n.749_756del c.2818_2825del (p.Ala940ArgfsTer6) c.2593_2600del (p.Ala865ArgfsTer6) c.3688_3695del (p.Ala1230ArgfsTer6) c.1661_1668del c.*984_*991del (n.*984_*991del) n.4627_4634del n.3228_3235del c.3739_3746del (p.Ala1247ArgfsTer6) c.3787_3794del (p.Ala1263ArgfsTer6) c.3847_3854del (p.Ala1283ArgfsTer6) c.3397_3404del (p.Ala1133ArgfsTer6) c.1699_1706del (p.Ala567ArgfsTer6) c.1516_1523del (p.Ala506ArgfsTer6) c.3748_3755del (p.Ala1250ArgfsTer6) c.3700_3707del (p.Ala1234ArgfsTer6) c.3469_3476del (p.Ala1157ArgfsTer6) c.3370_3377del (p.Ala1124ArgfsTer6) c.2551_2558del (p.Ala851ArgfsTer6) n.4102_4109del | ClinVar dbSNP |
| 13 | g.51937490C>A | CA388021410 | ATP7B | c.*1539G>T (n.*1539G>T) c.*2633G>T (n.*2633G>T) c.3268G>T (p.Val1090Phe) c.3889G>T (p.Val1297Phe) c.3556G>T (p.Val1186Phe) c.3637G>T (p.Val1213Phe) n.1130G>T c.3655G>T (p.Val1219Phe) n.4028G>T n.755G>T c.2824G>T (p.Val942Phe) c.2599G>T (p.Val867Phe) c.3694G>T (p.Val1232Phe) c.1667G>T c.*990G>T (n.*990G>T) n.4633G>T n.3234G>T c.3745G>T (p.Val1249Phe) c.3793G>T (p.Val1265Phe) c.3853G>T (p.Val1285Phe) c.3403G>T (p.Val1135Phe) c.1705G>T (p.Val569Phe) c.1522G>T (p.Val508Phe) c.3754G>T (p.Val1252Phe) c.3706G>T (p.Val1236Phe) c.3475G>T (p.Val1159Phe) c.3376G>T (p.Val1126Phe) c.2557G>T (p.Val853Phe) n.4108G>T | |
| 13 | g.51937490C= | CA2091553720 | ATP7B | c.*1539G= (n.*1539G=) c.*2633G= (n.*2633G=) c.3268G= (p.Val1090=) c.3889G= (p.Val1297=) c.3556G= (p.Val1186=) c.3637G= (p.Val1213=) n.1130G= c.3655G= (p.Val1219=) n.4028G= n.755G= c.2824G= (p.Val942=) c.2599G= (p.Val867=) c.3694G= (p.Val1232=) c.1667G= c.*990G= (n.*990G=) n.4633G= n.3234G= c.3745G= (p.Val1249=) c.3793G= (p.Val1265=) c.3853G= (p.Val1285=) c.3403G= (p.Val1135=) c.1705G= (p.Val569=) c.1522G= (p.Val508=) c.3754G= (p.Val1252=) c.3706G= (p.Val1236=) c.3475G= (p.Val1159=) c.3376G= (p.Val1126=) c.2557G= (p.Val853=) n.4108G= | |
| 13 | g.51937490C>G | CA388021412 | ATP7B | c.*1539G>C (n.*1539G>C) c.*2633G>C (n.*2633G>C) c.3268G>C (p.Val1090Leu) c.3889G>C (p.Val1297Leu) c.3556G>C (p.Val1186Leu) c.3637G>C (p.Val1213Leu) n.1130G>C c.3655G>C (p.Val1219Leu) n.4028G>C n.755G>C c.2824G>C (p.Val942Leu) c.2599G>C (p.Val867Leu) c.3694G>C (p.Val1232Leu) c.1667G>C c.*990G>C (n.*990G>C) n.4633G>C n.3234G>C c.3745G>C (p.Val1249Leu) c.3793G>C (p.Val1265Leu) c.3853G>C (p.Val1285Leu) c.3403G>C (p.Val1135Leu) c.1705G>C (p.Val569Leu) c.1522G>C (p.Val508Leu) c.3754G>C (p.Val1252Leu) c.3706G>C (p.Val1236Leu) c.3475G>C (p.Val1159Leu) c.3376G>C (p.Val1126Leu) c.2557G>C (p.Val853Leu) n.4108G>C | |
| 13 | g.51937490C>T | CA145689 | ATP7B | c.*1539G>A (n.*1539G>A) c.*2633G>A (n.*2633G>A) c.3268G>A (p.Val1090Ile) c.3889G>A (p.Val1297Ile) c.3556G>A (p.Val1186Ile) c.3637G>A (p.Val1213Ile) n.1130G>A c.3655G>A (p.Val1219Ile) n.4028G>A n.755G>A c.2824G>A (p.Val942Ile) c.2599G>A (p.Val867Ile) c.3694G>A (p.Val1232Ile) c.1667G>A c.*990G>A (n.*990G>A) n.4633G>A n.3234G>A c.3745G>A (p.Val1249Ile) c.3793G>A (p.Val1265Ile) c.3853G>A (p.Val1285Ile) c.3403G>A (p.Val1135Ile) c.1705G>A (p.Val569Ile) c.1522G>A (p.Val508Ile) c.3754G>A (p.Val1252Ile) c.3706G>A (p.Val1236Ile) c.3475G>A (p.Val1159Ile) c.3376G>A (p.Val1126Ile) c.2557G>A (p.Val853Ile) n.4108G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937491del | CA2695218746 | ATP7B | c.*1538del (n.*1538del) c.*2632del (n.*2632del) c.3267del (p.Asp1089GlufsTer?) c.3888del (p.Asp1296GlufsTer?) c.3555del (p.Asp1185GlufsTer?) c.3636del (p.Asp1212GlufsTer?) n.1129del c.3654del (p.Asp1218GlufsTer?) n.4027del n.754del c.2823del (p.Asp941GlufsTer?) c.2598del (p.Asp866GlufsTer?) c.3693del (p.Asp1231GlufsTer?) c.1666del c.*989del (n.*989del) n.4632del n.3233del c.3744del (p.Asp1248GlufsTer?) c.3792del (p.Asp1264GlufsTer?) c.3852del (p.Asp1284GlufsTer?) c.3402del (p.Asp1134GlufsTer?) c.1704del (p.Asp568GlufsTer?) c.1521del (p.Asp507GlufsTer?) c.3753del (p.Asp1251GlufsTer?) c.3705del (p.Asp1235GlufsTer?) c.3474del (p.Asp1158GlufsTer?) c.3375del (p.Asp1125GlufsTer?) c.2556del (p.Asp852GlufsTer?) n.4107del | |
| 13 | g.51937491G>A | CA6988549 | ATP7B | c.*1538C>T (n.*1538C>T) c.*2632C>T (n.*2632C>T) c.3267C>T (p.Asp1089=) c.3888C>T (p.Asp1296=) c.3555C>T (p.Asp1185=) c.3636C>T (p.Asp1212=) n.1129C>T c.3654C>T (p.Asp1218=) n.4027C>T n.754C>T c.2823C>T (p.Asp941=) c.2598C>T (p.Asp866=) c.3693C>T (p.Asp1231=) c.1666C>T c.*989C>T (n.*989C>T) n.4632C>T n.3233C>T c.3744C>T (p.Asp1248=) c.3792C>T (p.Asp1264=) c.3852C>T (p.Asp1284=) c.3402C>T (p.Asp1134=) c.1704C>T (p.Asp568=) c.1521C>T (p.Asp507=) c.3753C>T (p.Asp1251=) c.3705C>T (p.Asp1235=) c.3474C>T (p.Asp1158=) c.3375C>T (p.Asp1125=) c.2556C>T (p.Asp852=) n.4107C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937491G>C | CA388021418 | ATP7B | c.*1538C>G (n.*1538C>G) c.*2632C>G (n.*2632C>G) c.3267C>G (p.Asp1089Glu) c.3888C>G (p.Asp1296Glu) c.3555C>G (p.Asp1185Glu) c.3636C>G (p.Asp1212Glu) n.1129C>G c.3654C>G (p.Asp1218Glu) n.4027C>G n.754C>G c.2823C>G (p.Asp941Glu) c.2598C>G (p.Asp866Glu) c.3693C>G (p.Asp1231Glu) c.1666C>G c.*989C>G (n.*989C>G) n.4632C>G n.3233C>G c.3744C>G (p.Asp1248Glu) c.3792C>G (p.Asp1264Glu) c.3852C>G (p.Asp1284Glu) c.3402C>G (p.Asp1134Glu) c.1704C>G (p.Asp568Glu) c.1521C>G (p.Asp507Glu) c.3753C>G (p.Asp1251Glu) c.3705C>G (p.Asp1235Glu) c.3474C>G (p.Asp1158Glu) c.3375C>G (p.Asp1125Glu) c.2556C>G (p.Asp852Glu) n.4107C>G | |
| 13 | g.51937491G= | CA2091553732 | ATP7B | c.*1538C= (n.*1538C=) c.*2632C= (n.*2632C=) c.3267C= (p.Asp1089=) c.3888C= (p.Asp1296=) c.3555C= (p.Asp1185=) c.3636C= (p.Asp1212=) n.1129C= c.3654C= (p.Asp1218=) n.4027C= n.754C= c.2823C= (p.Asp941=) c.2598C= (p.Asp866=) c.3693C= (p.Asp1231=) c.1666C= c.*989C= (n.*989C=) n.4632C= n.3233C= c.3744C= (p.Asp1248=) c.3792C= (p.Asp1264=) c.3852C= (p.Asp1284=) c.3402C= (p.Asp1134=) c.1704C= (p.Asp568=) c.1521C= (p.Asp507=) c.3753C= (p.Asp1251=) c.3705C= (p.Asp1235=) c.3474C= (p.Asp1158=) c.3375C= (p.Asp1125=) c.2556C= (p.Asp852=) n.4107C= | |
| 13 | g.51937491G>T | CA388021420 | ATP7B | c.*1538C>A (n.*1538C>A) c.*2632C>A (n.*2632C>A) c.3267C>A (p.Asp1089Glu) c.3888C>A (p.Asp1296Glu) c.3555C>A (p.Asp1185Glu) c.3636C>A (p.Asp1212Glu) n.1129C>A c.3654C>A (p.Asp1218Glu) n.4027C>A n.754C>A c.2823C>A (p.Asp941Glu) c.2598C>A (p.Asp866Glu) c.3693C>A (p.Asp1231Glu) c.1666C>A c.*989C>A (n.*989C>A) n.4632C>A n.3233C>A c.3744C>A (p.Asp1248Glu) c.3792C>A (p.Asp1264Glu) c.3852C>A (p.Asp1284Glu) c.3402C>A (p.Asp1134Glu) c.1704C>A (p.Asp568Glu) c.1521C>A (p.Asp507Glu) c.3753C>A (p.Asp1251Glu) c.3705C>A (p.Asp1235Glu) c.3474C>A (p.Asp1158Glu) c.3375C>A (p.Asp1125Glu) c.2556C>A (p.Asp852Glu) n.4107C>A | gnomAD v4 |
| 13 | g.51937492T>A | CA388021424 | ATP7B | c.*1537A>T (n.*1537A>T) c.*2631A>T (n.*2631A>T) c.3266A>T (p.Asp1089Val) c.3887A>T (p.Asp1296Val) c.3554A>T (p.Asp1185Val) c.3635A>T (p.Asp1212Val) n.1128A>T c.3653A>T (p.Asp1218Val) n.4026A>T n.753A>T c.2822A>T (p.Asp941Val) c.2597A>T (p.Asp866Val) c.3692A>T (p.Asp1231Val) c.1665A>T c.*988A>T (n.*988A>T) n.4631A>T n.3232A>T c.3743A>T (p.Asp1248Val) c.3791A>T (p.Asp1264Val) c.3851A>T (p.Asp1284Val) c.3401A>T (p.Asp1134Val) c.1703A>T (p.Asp568Val) c.1520A>T (p.Asp507Val) c.3752A>T (p.Asp1251Val) c.3704A>T (p.Asp1235Val) c.3473A>T (p.Asp1158Val) c.3374A>T (p.Asp1125Val) c.2555A>T (p.Asp852Val) n.4106A>T | |
| 13 | g.51937492T>C | CA388021427 | ATP7B | c.*1537A>G (n.*1537A>G) c.*2631A>G (n.*2631A>G) c.3266A>G (p.Asp1089Gly) c.3887A>G (p.Asp1296Gly) c.3554A>G (p.Asp1185Gly) c.3635A>G (p.Asp1212Gly) n.1128A>G c.3653A>G (p.Asp1218Gly) n.4026A>G n.753A>G c.2822A>G (p.Asp941Gly) c.2597A>G (p.Asp866Gly) c.3692A>G (p.Asp1231Gly) c.1665A>G c.*988A>G (n.*988A>G) n.4631A>G n.3232A>G c.3743A>G (p.Asp1248Gly) c.3791A>G (p.Asp1264Gly) c.3851A>G (p.Asp1284Gly) c.3401A>G (p.Asp1134Gly) c.1703A>G (p.Asp568Gly) c.1520A>G (p.Asp507Gly) c.3752A>G (p.Asp1251Gly) c.3704A>G (p.Asp1235Gly) c.3473A>G (p.Asp1158Gly) c.3374A>G (p.Asp1125Gly) c.2555A>G (p.Asp852Gly) n.4106A>G | ClinVar dbSNP |
| 13 | g.51937492T>G | CA388021429 | ATP7B | c.*1537A>C (n.*1537A>C) c.*2631A>C (n.*2631A>C) c.3266A>C (p.Asp1089Ala) c.3887A>C (p.Asp1296Ala) c.3554A>C (p.Asp1185Ala) c.3635A>C (p.Asp1212Ala) n.1128A>C c.3653A>C (p.Asp1218Ala) n.4026A>C n.753A>C c.2822A>C (p.Asp941Ala) c.2597A>C (p.Asp866Ala) c.3692A>C (p.Asp1231Ala) c.1665A>C c.*988A>C (n.*988A>C) n.4631A>C n.3232A>C c.3743A>C (p.Asp1248Ala) c.3791A>C (p.Asp1264Ala) c.3851A>C (p.Asp1284Ala) c.3401A>C (p.Asp1134Ala) c.1703A>C (p.Asp568Ala) c.1520A>C (p.Asp507Ala) c.3752A>C (p.Asp1251Ala) c.3704A>C (p.Asp1235Ala) c.3473A>C (p.Asp1158Ala) c.3374A>C (p.Asp1125Ala) c.2555A>C (p.Asp852Ala) n.4106A>C | |
| 13 | g.51937492T= | CA2091553745 | ATP7B | c.*1537A= (n.*1537A=) c.*2631A= (n.*2631A=) c.3266A= (p.Asp1089=) c.3887A= (p.Asp1296=) c.3554A= (p.Asp1185=) c.3635A= (p.Asp1212=) n.1128A= c.3653A= (p.Asp1218=) n.4026A= n.753A= c.2822A= (p.Asp941=) c.2597A= (p.Asp866=) c.3692A= (p.Asp1231=) c.1665A= c.*988A= (n.*988A=) n.4631A= n.3232A= c.3743A= (p.Asp1248=) c.3791A= (p.Asp1264=) c.3851A= (p.Asp1284=) c.3401A= (p.Asp1134=) c.1703A= (p.Asp568=) c.1520A= (p.Asp507=) c.3752A= (p.Asp1251=) c.3704A= (p.Asp1235=) c.3473A= (p.Asp1158=) c.3374A= (p.Asp1125=) c.2555A= (p.Asp852=) n.4106A= | |
| 13 | g.51937493C>A | CA388021431 | ATP7B | c.*1536G>T (n.*1536G>T) c.*2630G>T (n.*2630G>T) c.3265G>T (p.Asp1089Tyr) c.3886G>T (p.Asp1296Tyr) c.3553G>T (p.Asp1185Tyr) c.3634G>T (p.Asp1212Tyr) n.1127G>T c.3652G>T (p.Asp1218Tyr) n.4025G>T n.752G>T c.2821G>T (p.Asp941Tyr) c.2596G>T (p.Asp866Tyr) c.3691G>T (p.Asp1231Tyr) c.1664G>T c.*987G>T (n.*987G>T) n.4630G>T n.3231G>T c.3742G>T (p.Asp1248Tyr) c.3790G>T (p.Asp1264Tyr) c.3850G>T (p.Asp1284Tyr) c.3400G>T (p.Asp1134Tyr) c.1702G>T (p.Asp568Tyr) c.1519G>T (p.Asp507Tyr) c.3751G>T (p.Asp1251Tyr) c.3703G>T (p.Asp1235Tyr) c.3472G>T (p.Asp1158Tyr) c.3373G>T (p.Asp1125Tyr) c.2554G>T (p.Asp852Tyr) n.4105G>T | |
| 13 | g.51937493C= | CA2091553755 | ATP7B | c.*1536G= (n.*1536G=) c.*2630G= (n.*2630G=) c.3265G= (p.Asp1089=) c.3886G= (p.Asp1296=) c.3553G= (p.Asp1185=) c.3634G= (p.Asp1212=) n.1127G= c.3652G= (p.Asp1218=) n.4025G= n.752G= c.2821G= (p.Asp941=) c.2596G= (p.Asp866=) c.3691G= (p.Asp1231=) c.1664G= c.*987G= (n.*987G=) n.4630G= n.3231G= c.3742G= (p.Asp1248=) c.3790G= (p.Asp1264=) c.3850G= (p.Asp1284=) c.3400G= (p.Asp1134=) c.1702G= (p.Asp568=) c.1519G= (p.Asp507=) c.3751G= (p.Asp1251=) c.3703G= (p.Asp1235=) c.3472G= (p.Asp1158=) c.3373G= (p.Asp1125=) c.2554G= (p.Asp852=) n.4105G= | |
| 13 | g.51937493C>G | CA388021433 | ATP7B | c.*1536G>C (n.*1536G>C) c.*2630G>C (n.*2630G>C) c.3265G>C (p.Asp1089His) c.3886G>C (p.Asp1296His) c.3553G>C (p.Asp1185His) c.3634G>C (p.Asp1212His) n.1127G>C c.3652G>C (p.Asp1218His) n.4025G>C n.752G>C c.2821G>C (p.Asp941His) c.2596G>C (p.Asp866His) c.3691G>C (p.Asp1231His) c.1664G>C c.*987G>C (n.*987G>C) n.4630G>C n.3231G>C c.3742G>C (p.Asp1248His) c.3790G>C (p.Asp1264His) c.3850G>C (p.Asp1284His) c.3400G>C (p.Asp1134His) c.1702G>C (p.Asp568His) c.1519G>C (p.Asp507His) c.3751G>C (p.Asp1251His) c.3703G>C (p.Asp1235His) c.3472G>C (p.Asp1158His) c.3373G>C (p.Asp1125His) c.2554G>C (p.Asp852His) n.4105G>C | |
| 13 | g.51937493C>T | CA272855 | ATP7B | c.*1536G>A (n.*1536G>A) c.*2630G>A (n.*2630G>A) c.3265G>A (p.Asp1089Asn) c.3886G>A (p.Asp1296Asn) c.3553G>A (p.Asp1185Asn) c.3634G>A (p.Asp1212Asn) n.1127G>A c.3652G>A (p.Asp1218Asn) n.4025G>A n.752G>A c.2821G>A (p.Asp941Asn) c.2596G>A (p.Asp866Asn) c.3691G>A (p.Asp1231Asn) c.1664G>A c.*987G>A (n.*987G>A) n.4630G>A n.3231G>A c.3742G>A (p.Asp1248Asn) c.3790G>A (p.Asp1264Asn) c.3850G>A (p.Asp1284Asn) c.3400G>A (p.Asp1134Asn) c.1702G>A (p.Asp568Asn) c.1519G>A (p.Asp507Asn) c.3751G>A (p.Asp1251Asn) c.3703G>A (p.Asp1235Asn) c.3472G>A (p.Asp1158Asn) c.3373G>A (p.Asp1125Asn) c.2554G>A (p.Asp852Asn) n.4105G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937494G>A | CA6988550 | ATP7B | c.*1535C>T (n.*1535C>T) c.*2629C>T (n.*2629C>T) c.3264C>T (p.Ala1088=) c.3885C>T (p.Ala1295=) c.3552C>T (p.Ala1184=) c.3633C>T (p.Ala1211=) n.1126C>T c.3651C>T (p.Ala1217=) n.4024C>T n.751C>T c.2820C>T (p.Ala940=) c.2595C>T (p.Ala865=) c.3690C>T (p.Ala1230=) c.1663C>T c.*986C>T (n.*986C>T) n.4629C>T n.3230C>T c.3741C>T (p.Ala1247=) c.3789C>T (p.Ala1263=) c.3849C>T (p.Ala1283=) c.3399C>T (p.Ala1133=) c.1701C>T (p.Ala567=) c.1518C>T (p.Ala506=) c.3750C>T (p.Ala1250=) c.3702C>T (p.Ala1234=) c.3471C>T (p.Ala1157=) c.3372C>T (p.Ala1124=) c.2553C>T (p.Ala851=) n.4104C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937494G>C | CA484024278 | ATP7B | c.*1535C>G (n.*1535C>G) c.*2629C>G (n.*2629C>G) c.3264C>G (p.Ala1088=) c.3885C>G (p.Ala1295=) c.3552C>G (p.Ala1184=) c.3633C>G (p.Ala1211=) n.1126C>G c.3651C>G (p.Ala1217=) n.4024C>G n.751C>G c.2820C>G (p.Ala940=) c.2595C>G (p.Ala865=) c.3690C>G (p.Ala1230=) c.1663C>G c.*986C>G (n.*986C>G) n.4629C>G n.3230C>G c.3741C>G (p.Ala1247=) c.3789C>G (p.Ala1263=) c.3849C>G (p.Ala1283=) c.3399C>G (p.Ala1133=) c.1701C>G (p.Ala567=) c.1518C>G (p.Ala506=) c.3750C>G (p.Ala1250=) c.3702C>G (p.Ala1234=) c.3471C>G (p.Ala1157=) c.3372C>G (p.Ala1124=) c.2553C>G (p.Ala851=) n.4104C>G | |
| 13 | g.51937494G= | CA2091553762 | ATP7B | c.*1535C= (n.*1535C=) c.*2629C= (n.*2629C=) c.3264C= (p.Ala1088=) c.3885C= (p.Ala1295=) c.3552C= (p.Ala1184=) c.3633C= (p.Ala1211=) n.1126C= c.3651C= (p.Ala1217=) n.4024C= n.751C= c.2820C= (p.Ala940=) c.2595C= (p.Ala865=) c.3690C= (p.Ala1230=) c.1663C= c.*986C= (n.*986C=) n.4629C= n.3230C= c.3741C= (p.Ala1247=) c.3789C= (p.Ala1263=) c.3849C= (p.Ala1283=) c.3399C= (p.Ala1133=) c.1701C= (p.Ala567=) c.1518C= (p.Ala506=) c.3750C= (p.Ala1250=) c.3702C= (p.Ala1234=) c.3471C= (p.Ala1157=) c.3372C= (p.Ala1124=) c.2553C= (p.Ala851=) n.4104C= | |
| 13 | g.51937494G>T | CA484024279 | ATP7B | c.*1535C>A (n.*1535C>A) c.*2629C>A (n.*2629C>A) c.3264C>A (p.Ala1088=) c.3885C>A (p.Ala1295=) c.3552C>A (p.Ala1184=) c.3633C>A (p.Ala1211=) n.1126C>A c.3651C>A (p.Ala1217=) n.4024C>A n.751C>A c.2820C>A (p.Ala940=) c.2595C>A (p.Ala865=) c.3690C>A (p.Ala1230=) c.1663C>A c.*986C>A (n.*986C>A) n.4629C>A n.3230C>A c.3741C>A (p.Ala1247=) c.3789C>A (p.Ala1263=) c.3849C>A (p.Ala1283=) c.3399C>A (p.Ala1133=) c.1701C>A (p.Ala567=) c.1518C>A (p.Ala506=) c.3750C>A (p.Ala1250=) c.3702C>A (p.Ala1234=) c.3471C>A (p.Ala1157=) c.3372C>A (p.Ala1124=) c.2553C>A (p.Ala851=) n.4104C>A | ClinVar dbSNP |
| 13 | g.51937495G>A | CA388021441 | ATP7B | c.*1534C>T (n.*1534C>T) c.*2628C>T (n.*2628C>T) c.3263C>T (p.Ala1088Val) c.3884C>T (p.Ala1295Val) c.3551C>T (p.Ala1184Val) c.3632C>T (p.Ala1211Val) n.1125C>T c.3650C>T (p.Ala1217Val) n.4023C>T n.750C>T c.2819C>T (p.Ala940Val) c.2594C>T (p.Ala865Val) c.3689C>T (p.Ala1230Val) c.1662C>T c.*985C>T (n.*985C>T) n.4628C>T n.3229C>T c.3740C>T (p.Ala1247Val) c.3788C>T (p.Ala1263Val) c.3848C>T (p.Ala1283Val) c.3398C>T (p.Ala1133Val) c.1700C>T (p.Ala567Val) c.1517C>T (p.Ala506Val) c.3749C>T (p.Ala1250Val) c.3701C>T (p.Ala1234Val) c.3470C>T (p.Ala1157Val) c.3371C>T (p.Ala1124Val) c.2552C>T (p.Ala851Val) n.4103C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.51937495G>C | CA388021439 | ATP7B | c.*1534C>G (n.*1534C>G) c.*2628C>G (n.*2628C>G) c.3263C>G (p.Ala1088Gly) c.3884C>G (p.Ala1295Gly) c.3551C>G (p.Ala1184Gly) c.3632C>G (p.Ala1211Gly) n.1125C>G c.3650C>G (p.Ala1217Gly) n.4023C>G n.750C>G c.2819C>G (p.Ala940Gly) c.2594C>G (p.Ala865Gly) c.3689C>G (p.Ala1230Gly) c.1662C>G c.*985C>G (n.*985C>G) n.4628C>G n.3229C>G c.3740C>G (p.Ala1247Gly) c.3788C>G (p.Ala1263Gly) c.3848C>G (p.Ala1283Gly) c.3398C>G (p.Ala1133Gly) c.1700C>G (p.Ala567Gly) c.1517C>G (p.Ala506Gly) c.3749C>G (p.Ala1250Gly) c.3701C>G (p.Ala1234Gly) c.3470C>G (p.Ala1157Gly) c.3371C>G (p.Ala1124Gly) c.2552C>G (p.Ala851Gly) n.4103C>G | |
| 13 | g.51937495G= | CA2091553773 | ATP7B | c.*1534C= (n.*1534C=) c.*2628C= (n.*2628C=) c.3263C= (p.Ala1088=) c.3884C= (p.Ala1295=) c.3551C= (p.Ala1184=) c.3632C= (p.Ala1211=) n.1125C= c.3650C= (p.Ala1217=) n.4023C= n.750C= c.2819C= (p.Ala940=) c.2594C= (p.Ala865=) c.3689C= (p.Ala1230=) c.1662C= c.*985C= (n.*985C=) n.4628C= n.3229C= c.3740C= (p.Ala1247=) c.3788C= (p.Ala1263=) c.3848C= (p.Ala1283=) c.3398C= (p.Ala1133=) c.1700C= (p.Ala567=) c.1517C= (p.Ala506=) c.3749C= (p.Ala1250=) c.3701C= (p.Ala1234=) c.3470C= (p.Ala1157=) c.3371C= (p.Ala1124=) c.2552C= (p.Ala851=) n.4103C= | |
| 13 | g.51937495G>T | CA388021437 | ATP7B | c.*1534C>A (n.*1534C>A) c.*2628C>A (n.*2628C>A) c.3263C>A (p.Ala1088Asp) c.3884C>A (p.Ala1295Asp) c.3551C>A (p.Ala1184Asp) c.3632C>A (p.Ala1211Asp) n.1125C>A c.3650C>A (p.Ala1217Asp) n.4023C>A n.750C>A c.2819C>A (p.Ala940Asp) c.2594C>A (p.Ala865Asp) c.3689C>A (p.Ala1230Asp) c.1662C>A c.*985C>A (n.*985C>A) n.4628C>A n.3229C>A c.3740C>A (p.Ala1247Asp) c.3788C>A (p.Ala1263Asp) c.3848C>A (p.Ala1283Asp) c.3398C>A (p.Ala1133Asp) c.1700C>A (p.Ala567Asp) c.1517C>A (p.Ala506Asp) c.3749C>A (p.Ala1250Asp) c.3701C>A (p.Ala1234Asp) c.3470C>A (p.Ala1157Asp) c.3371C>A (p.Ala1124Asp) c.2552C>A (p.Ala851Asp) n.4103C>A | dbSNP gnomAD v2 |
| 13 | g.51937496C>A | CA388021448 | ATP7B | c.*1533G>T (n.*1533G>T) c.*2627G>T (n.*2627G>T) c.3262G>T (p.Ala1088Ser) c.3883G>T (p.Ala1295Ser) c.3550G>T (p.Ala1184Ser) c.3631G>T (p.Ala1211Ser) n.1124G>T c.3649G>T (p.Ala1217Ser) n.4022G>T n.749G>T c.2818G>T (p.Ala940Ser) c.2593G>T (p.Ala865Ser) c.3688G>T (p.Ala1230Ser) c.1661G>T c.*984G>T (n.*984G>T) n.4627G>T n.3228G>T c.3739G>T (p.Ala1247Ser) c.3787G>T (p.Ala1263Ser) c.3847G>T (p.Ala1283Ser) c.3397G>T (p.Ala1133Ser) c.1699G>T (p.Ala567Ser) c.1516G>T (p.Ala506Ser) c.3748G>T (p.Ala1250Ser) c.3700G>T (p.Ala1234Ser) c.3469G>T (p.Ala1157Ser) c.3370G>T (p.Ala1124Ser) c.2551G>T (p.Ala851Ser) n.4102G>T | |
| 13 | g.51937496C>G | CA388021445 | ATP7B | c.*1533G>C (n.*1533G>C) c.*2627G>C (n.*2627G>C) c.3262G>C (p.Ala1088Pro) c.3883G>C (p.Ala1295Pro) c.3550G>C (p.Ala1184Pro) c.3631G>C (p.Ala1211Pro) n.1124G>C c.3649G>C (p.Ala1217Pro) n.4022G>C n.749G>C c.2818G>C (p.Ala940Pro) c.2593G>C (p.Ala865Pro) c.3688G>C (p.Ala1230Pro) c.1661G>C c.*984G>C (n.*984G>C) n.4627G>C n.3228G>C c.3739G>C (p.Ala1247Pro) c.3787G>C (p.Ala1263Pro) c.3847G>C (p.Ala1283Pro) c.3397G>C (p.Ala1133Pro) c.1699G>C (p.Ala567Pro) c.1516G>C (p.Ala506Pro) c.3748G>C (p.Ala1250Pro) c.3700G>C (p.Ala1234Pro) c.3469G>C (p.Ala1157Pro) c.3370G>C (p.Ala1124Pro) c.2551G>C (p.Ala851Pro) n.4102G>C | |
| 13 | g.51937496C>T | CA388021450 | ATP7B | c.*1533G>A (n.*1533G>A) c.*2627G>A (n.*2627G>A) c.3262G>A (p.Ala1088Thr) c.3883G>A (p.Ala1295Thr) c.3550G>A (p.Ala1184Thr) c.3631G>A (p.Ala1211Thr) n.1124G>A c.3649G>A (p.Ala1217Thr) n.4022G>A n.749G>A c.2818G>A (p.Ala940Thr) c.2593G>A (p.Ala865Thr) c.3688G>A (p.Ala1230Thr) c.1661G>A c.*984G>A (n.*984G>A) n.4627G>A n.3228G>A c.3739G>A (p.Ala1247Thr) c.3787G>A (p.Ala1263Thr) c.3847G>A (p.Ala1283Thr) c.3397G>A (p.Ala1133Thr) c.1699G>A (p.Ala567Thr) c.1516G>A (p.Ala506Thr) c.3748G>A (p.Ala1250Thr) c.3700G>A (p.Ala1234Thr) c.3469G>A (p.Ala1157Thr) c.3370G>A (p.Ala1124Thr) c.2551G>A (p.Ala851Thr) n.4102G>A | |
| 13 | g.51937497T>A | CA484024280 | ATP7B | c.*1532A>T (n.*1532A>T) c.*2626A>T (n.*2626A>T) c.3261A>T (p.Ala1087=) c.3882A>T (p.Ala1294=) c.3549A>T (p.Ala1183=) c.3630A>T (p.Ala1210=) n.1123A>T c.3648A>T (p.Ala1216=) n.4021A>T n.748A>T c.2817A>T (p.Ala939=) c.2592A>T (p.Ala864=) c.3687A>T (p.Ala1229=) c.1660A>T c.*983A>T (n.*983A>T) n.4626A>T n.3227A>T c.3738A>T (p.Ala1246=) c.3786A>T (p.Ala1262=) c.3846A>T (p.Ala1282=) c.3396A>T (p.Ala1132=) c.1698A>T (p.Ala566=) c.1515A>T (p.Ala505=) c.3747A>T (p.Ala1249=) c.3699A>T (p.Ala1233=) c.3468A>T (p.Ala1156=) c.3369A>T (p.Ala1123=) c.2550A>T (p.Ala850=) n.4101A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937497T>C | CA484024281 | ATP7B | c.*1532A>G (n.*1532A>G) c.*2626A>G (n.*2626A>G) c.3261A>G (p.Ala1087=) c.3882A>G (p.Ala1294=) c.3549A>G (p.Ala1183=) c.3630A>G (p.Ala1210=) n.1123A>G c.3648A>G (p.Ala1216=) n.4021A>G n.748A>G c.2817A>G (p.Ala939=) c.2592A>G (p.Ala864=) c.3687A>G (p.Ala1229=) c.1660A>G c.*983A>G (n.*983A>G) n.4626A>G n.3227A>G c.3738A>G (p.Ala1246=) c.3786A>G (p.Ala1262=) c.3846A>G (p.Ala1282=) c.3396A>G (p.Ala1132=) c.1698A>G (p.Ala566=) c.1515A>G (p.Ala505=) c.3747A>G (p.Ala1249=) c.3699A>G (p.Ala1233=) c.3468A>G (p.Ala1156=) c.3369A>G (p.Ala1123=) c.2550A>G (p.Ala850=) n.4101A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.51937497T>G | CA6988551 | ATP7B | c.*1532A>C (n.*1532A>C) c.*2626A>C (n.*2626A>C) c.3261A>C (p.Ala1087=) c.3882A>C (p.Ala1294=) c.3549A>C (p.Ala1183=) c.3630A>C (p.Ala1210=) n.1123A>C c.3648A>C (p.Ala1216=) n.4021A>C n.748A>C c.2817A>C (p.Ala939=) c.2592A>C (p.Ala864=) c.3687A>C (p.Ala1229=) c.1660A>C c.*983A>C (n.*983A>C) n.4626A>C n.3227A>C c.3738A>C (p.Ala1246=) c.3786A>C (p.Ala1262=) c.3846A>C (p.Ala1282=) c.3396A>C (p.Ala1132=) c.1698A>C (p.Ala566=) c.1515A>C (p.Ala505=) c.3747A>C (p.Ala1249=) c.3699A>C (p.Ala1233=) c.3468A>C (p.Ala1156=) c.3369A>C (p.Ala1123=) c.2550A>C (p.Ala850=) n.4101A>C | dbSNP ExAC gnomAD v2 |
| 13 | g.51937497T= | CA2091553780 | ATP7B | c.*1532A= (n.*1532A=) c.*2626A= (n.*2626A=) c.3261A= (p.Ala1087=) c.3882A= (p.Ala1294=) c.3549A= (p.Ala1183=) c.3630A= (p.Ala1210=) n.1123A= c.3648A= (p.Ala1216=) n.4021A= n.748A= c.2817A= (p.Ala939=) c.2592A= (p.Ala864=) c.3687A= (p.Ala1229=) c.1660A= c.*983A= (n.*983A=) n.4626A= n.3227A= c.3738A= (p.Ala1246=) c.3786A= (p.Ala1262=) c.3846A= (p.Ala1282=) c.3396A= (p.Ala1132=) c.1698A= (p.Ala566=) c.1515A= (p.Ala505=) c.3747A= (p.Ala1249=) c.3699A= (p.Ala1233=) c.3468A= (p.Ala1156=) c.3369A= (p.Ala1123=) c.2550A= (p.Ala850=) n.4101A= | |
| 13 | g.51937498del | CA2695218748 | ATP7B | c.*1531del (n.*1531del) c.*2625del (n.*2625del) c.3260del (p.Ala1087GlufsTer?) c.3881del (p.Ala1294GlufsTer?) c.3548del (p.Ala1183GlufsTer?) c.3629del (p.Ala1210GlufsTer?) n.1122del c.3647del (p.Ala1216GlufsTer?) n.4020del n.747del c.2816del (p.Ala939GlufsTer?) c.2591del (p.Ala864GlufsTer?) c.3686del (p.Ala1229GlufsTer?) c.1659del c.*982del (n.*982del) n.4625del n.3226del c.3737del (p.Ala1246GlufsTer?) c.3785del (p.Ala1262GlufsTer?) c.3845del (p.Ala1282GlufsTer?) c.3395del (p.Ala1132GlufsTer?) c.1697del (p.Ala566GlufsTer?) c.1514del (p.Ala505GlufsTer?) c.3746del (p.Ala1249GlufsTer?) c.3698del (p.Ala1233GlufsTer?) c.3467del (p.Ala1156GlufsTer?) c.3368del (p.Ala1123GlufsTer?) c.2549del (p.Ala850GlufsTer?) n.4100del | |
| 13 | g.51937498G>A | CA388021453 | ATP7B | c.*1531C>T (n.*1531C>T) c.*2625C>T (n.*2625C>T) c.3260C>T (p.Ala1087Val) c.3881C>T (p.Ala1294Val) c.3548C>T (p.Ala1183Val) c.3629C>T (p.Ala1210Val) n.1122C>T c.3647C>T (p.Ala1216Val) n.4020C>T n.747C>T c.2816C>T (p.Ala939Val) c.2591C>T (p.Ala864Val) c.3686C>T (p.Ala1229Val) c.1659C>T c.*982C>T (n.*982C>T) n.4625C>T n.3226C>T c.3737C>T (p.Ala1246Val) c.3785C>T (p.Ala1262Val) c.3845C>T (p.Ala1282Val) c.3395C>T (p.Ala1132Val) c.1697C>T (p.Ala566Val) c.1514C>T (p.Ala505Val) c.3746C>T (p.Ala1249Val) c.3698C>T (p.Ala1233Val) c.3467C>T (p.Ala1156Val) c.3368C>T (p.Ala1123Val) c.2549C>T (p.Ala850Val) n.4100C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937498G>C | CA388021456 | ATP7B | c.*1531C>G (n.*1531C>G) c.*2625C>G (n.*2625C>G) c.3260C>G (p.Ala1087Gly) c.3881C>G (p.Ala1294Gly) c.3548C>G (p.Ala1183Gly) c.3629C>G (p.Ala1210Gly) n.1122C>G c.3647C>G (p.Ala1216Gly) n.4020C>G n.747C>G c.2816C>G (p.Ala939Gly) c.2591C>G (p.Ala864Gly) c.3686C>G (p.Ala1229Gly) c.1659C>G c.*982C>G (n.*982C>G) n.4625C>G n.3226C>G c.3737C>G (p.Ala1246Gly) c.3785C>G (p.Ala1262Gly) c.3845C>G (p.Ala1282Gly) c.3395C>G (p.Ala1132Gly) c.1697C>G (p.Ala566Gly) c.1514C>G (p.Ala505Gly) c.3746C>G (p.Ala1249Gly) c.3698C>G (p.Ala1233Gly) c.3467C>G (p.Ala1156Gly) c.3368C>G (p.Ala1123Gly) c.2549C>G (p.Ala850Gly) n.4100C>G | |
| 13 | g.51937498G= | CA2091553786 | ATP7B | c.*1531C= (n.*1531C=) c.*2625C= (n.*2625C=) c.3260C= (p.Ala1087=) c.3881C= (p.Ala1294=) c.3548C= (p.Ala1183=) c.3629C= (p.Ala1210=) n.1122C= c.3647C= (p.Ala1216=) n.4020C= n.747C= c.2816C= (p.Ala939=) c.2591C= (p.Ala864=) c.3686C= (p.Ala1229=) c.1659C= c.*982C= (n.*982C=) n.4625C= n.3226C= c.3737C= (p.Ala1246=) c.3785C= (p.Ala1262=) c.3845C= (p.Ala1282=) c.3395C= (p.Ala1132=) c.1697C= (p.Ala566=) c.1514C= (p.Ala505=) c.3746C= (p.Ala1249=) c.3698C= (p.Ala1233=) c.3467C= (p.Ala1156=) c.3368C= (p.Ala1123=) c.2549C= (p.Ala850=) n.4100C= | |
| 13 | g.51937498G>T | CA388021457 | ATP7B | c.*1531C>A (n.*1531C>A) c.*2625C>A (n.*2625C>A) c.3260C>A (p.Ala1087Glu) c.3881C>A (p.Ala1294Glu) c.3548C>A (p.Ala1183Glu) c.3629C>A (p.Ala1210Glu) n.1122C>A c.3647C>A (p.Ala1216Glu) n.4020C>A n.747C>A c.2816C>A (p.Ala939Glu) c.2591C>A (p.Ala864Glu) c.3686C>A (p.Ala1229Glu) c.1659C>A c.*982C>A (n.*982C>A) n.4625C>A n.3226C>A c.3737C>A (p.Ala1246Glu) c.3785C>A (p.Ala1262Glu) c.3845C>A (p.Ala1282Glu) c.3395C>A (p.Ala1132Glu) c.1697C>A (p.Ala566Glu) c.1514C>A (p.Ala505Glu) c.3746C>A (p.Ala1249Glu) c.3698C>A (p.Ala1233Glu) c.3467C>A (p.Ala1156Glu) c.3368C>A (p.Ala1123Glu) c.2549C>A (p.Ala850Glu) n.4100C>A | |
| 13 | g.51937499C>A | CA388021460 | ATP7B | c.*1530G>T (n.*1530G>T) c.*2624G>T (n.*2624G>T) c.3259G>T (p.Ala1087Ser) c.3880G>T (p.Ala1294Ser) c.3547G>T (p.Ala1183Ser) c.3628G>T (p.Ala1210Ser) n.1121G>T c.3646G>T (p.Ala1216Ser) n.4019G>T n.746G>T c.2815G>T (p.Ala939Ser) c.2590G>T (p.Ala864Ser) c.3685G>T (p.Ala1229Ser) c.1658G>T c.*981G>T (n.*981G>T) n.4624G>T n.3225G>T c.3736G>T (p.Ala1246Ser) c.3784G>T (p.Ala1262Ser) c.3844G>T (p.Ala1282Ser) c.3394G>T (p.Ala1132Ser) c.1696G>T (p.Ala566Ser) c.1513G>T (p.Ala505Ser) c.3745G>T (p.Ala1249Ser) c.3697G>T (p.Ala1233Ser) c.3466G>T (p.Ala1156Ser) c.3367G>T (p.Ala1123Ser) c.2548G>T (p.Ala850Ser) n.4099G>T | |
| 13 | g.51937499C>G | CA388021462 | ATP7B | c.*1530G>C (n.*1530G>C) c.*2624G>C (n.*2624G>C) c.3259G>C (p.Ala1087Pro) c.3880G>C (p.Ala1294Pro) c.3547G>C (p.Ala1183Pro) c.3628G>C (p.Ala1210Pro) n.1121G>C c.3646G>C (p.Ala1216Pro) n.4019G>C n.746G>C c.2815G>C (p.Ala939Pro) c.2590G>C (p.Ala864Pro) c.3685G>C (p.Ala1229Pro) c.1658G>C c.*981G>C (n.*981G>C) n.4624G>C n.3225G>C c.3736G>C (p.Ala1246Pro) c.3784G>C (p.Ala1262Pro) c.3844G>C (p.Ala1282Pro) c.3394G>C (p.Ala1132Pro) c.1696G>C (p.Ala566Pro) c.1513G>C (p.Ala505Pro) c.3745G>C (p.Ala1249Pro) c.3697G>C (p.Ala1233Pro) c.3466G>C (p.Ala1156Pro) c.3367G>C (p.Ala1123Pro) c.2548G>C (p.Ala850Pro) n.4099G>C | |
| 13 | g.51937499C>T | CA388021465 | ATP7B | c.*1530G>A (n.*1530G>A) c.*2624G>A (n.*2624G>A) c.3259G>A (p.Ala1087Thr) c.3880G>A (p.Ala1294Thr) c.3547G>A (p.Ala1183Thr) c.3628G>A (p.Ala1210Thr) n.1121G>A c.3646G>A (p.Ala1216Thr) n.4019G>A n.746G>A c.2815G>A (p.Ala939Thr) c.2590G>A (p.Ala864Thr) c.3685G>A (p.Ala1229Thr) c.1658G>A c.*981G>A (n.*981G>A) n.4624G>A n.3225G>A c.3736G>A (p.Ala1246Thr) c.3784G>A (p.Ala1262Thr) c.3844G>A (p.Ala1282Thr) c.3394G>A (p.Ala1132Thr) c.1696G>A (p.Ala566Thr) c.1513G>A (p.Ala505Thr) c.3745G>A (p.Ala1249Thr) c.3697G>A (p.Ala1233Thr) c.3466G>A (p.Ala1156Thr) c.3367G>A (p.Ala1123Thr) c.2548G>A (p.Ala850Thr) n.4099G>A | ClinVar gnomAD v4 |
| 13 | g.51937500C>A | CA388021467 | ATP7B | c.*1529G>T (n.*1529G>T) c.*2623G>T (n.*2623G>T) c.3258G>T (p.Glu1086Asp) c.3879G>T (p.Glu1293Asp) c.3546G>T (p.Glu1182Asp) c.3627G>T (p.Glu1209Asp) n.1120G>T c.3645G>T (p.Glu1215Asp) n.4018G>T n.745G>T c.2814G>T (p.Glu938Asp) c.2589G>T (p.Glu863Asp) c.3684G>T (p.Glu1228Asp) c.1657G>T c.*980G>T (n.*980G>T) n.4623G>T n.3224G>T c.3735G>T (p.Glu1245Asp) c.3783G>T (p.Glu1261Asp) c.3843G>T (p.Glu1281Asp) c.3393G>T (p.Glu1131Asp) c.1695G>T (p.Glu565Asp) c.1512G>T (p.Glu504Asp) c.3744G>T (p.Glu1248Asp) c.3696G>T (p.Glu1232Asp) c.3465G>T (p.Glu1155Asp) c.3366G>T (p.Glu1122Asp) c.2547G>T (p.Glu849Asp) n.4098G>T | |
| 13 | g.51937500C>G | CA388021468 | ATP7B | c.*1529G>C (n.*1529G>C) c.*2623G>C (n.*2623G>C) c.3258G>C (p.Glu1086Asp) c.3879G>C (p.Glu1293Asp) c.3546G>C (p.Glu1182Asp) c.3627G>C (p.Glu1209Asp) n.1120G>C c.3645G>C (p.Glu1215Asp) n.4018G>C n.745G>C c.2814G>C (p.Glu938Asp) c.2589G>C (p.Glu863Asp) c.3684G>C (p.Glu1228Asp) c.1657G>C c.*980G>C (n.*980G>C) n.4623G>C n.3224G>C c.3735G>C (p.Glu1245Asp) c.3783G>C (p.Glu1261Asp) c.3843G>C (p.Glu1281Asp) c.3393G>C (p.Glu1131Asp) c.1695G>C (p.Glu565Asp) c.1512G>C (p.Glu504Asp) c.3744G>C (p.Glu1248Asp) c.3696G>C (p.Glu1232Asp) c.3465G>C (p.Glu1155Asp) c.3366G>C (p.Glu1122Asp) c.2547G>C (p.Glu849Asp) n.4098G>C | gnomAD v4 |
| 13 | g.51937500C>T | CA484024282 | ATP7B | c.*1529G>A (n.*1529G>A) c.*2623G>A (n.*2623G>A) c.3258G>A (p.Glu1086=) c.3879G>A (p.Glu1293=) c.3546G>A (p.Glu1182=) c.3627G>A (p.Glu1209=) n.1120G>A c.3645G>A (p.Glu1215=) n.4018G>A n.745G>A c.2814G>A (p.Glu938=) c.2589G>A (p.Glu863=) c.3684G>A (p.Glu1228=) c.1657G>A c.*980G>A (n.*980G>A) n.4623G>A n.3224G>A c.3735G>A (p.Glu1245=) c.3783G>A (p.Glu1261=) c.3843G>A (p.Glu1281=) c.3393G>A (p.Glu1131=) c.1695G>A (p.Glu565=) c.1512G>A (p.Glu504=) c.3744G>A (p.Glu1248=) c.3696G>A (p.Glu1232=) c.3465G>A (p.Glu1155=) c.3366G>A (p.Glu1122=) c.2547G>A (p.Glu849=) n.4098G>A | |
| 13 | g.51937501T>A | CA388021470 | ATP7B | c.*1528A>T (n.*1528A>T) c.*2622A>T (n.*2622A>T) c.3257A>T (p.Glu1086Val) c.3878A>T (p.Glu1293Val) c.3545A>T (p.Glu1182Val) c.3626A>T (p.Glu1209Val) n.1119A>T c.3644A>T (p.Glu1215Val) n.4017A>T n.744A>T c.2813A>T (p.Glu938Val) c.2588A>T (p.Glu863Val) c.3683A>T (p.Glu1228Val) c.1656A>T c.*979A>T (n.*979A>T) n.4622A>T n.3223A>T c.3734A>T (p.Glu1245Val) c.3782A>T (p.Glu1261Val) c.3842A>T (p.Glu1281Val) c.3392A>T (p.Glu1131Val) c.1694A>T (p.Glu565Val) c.1511A>T (p.Glu504Val) c.3743A>T (p.Glu1248Val) c.3695A>T (p.Glu1232Val) c.3464A>T (p.Glu1155Val) c.3365A>T (p.Glu1122Val) c.2546A>T (p.Glu849Val) n.4097A>T |