Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51937502C>A | CA388021481 | ATP7B | c.*1527G>T (n.*1527G>T) c.*2621G>T (n.*2621G>T) c.3256G>T (p.Glu1086Ter) c.3877G>T (p.Glu1293Ter) c.3544G>T (p.Glu1182Ter) c.3625G>T (p.Glu1209Ter) n.1118G>T c.3643G>T (p.Glu1215Ter) n.4016G>T n.743G>T c.2812G>T (p.Glu938Ter) c.2587G>T (p.Glu863Ter) c.3682G>T (p.Glu1228Ter) c.1655G>T c.*978G>T (n.*978G>T) n.4621G>T n.3222G>T c.3733G>T (p.Glu1245Ter) c.3781G>T (p.Glu1261Ter) c.3841G>T (p.Glu1281Ter) c.3391G>T (p.Glu1131Ter) c.1693G>T (p.Glu565Ter) c.1510G>T (p.Glu504Ter) c.3742G>T (p.Glu1248Ter) c.3694G>T (p.Glu1232Ter) c.3463G>T (p.Glu1155Ter) c.3364G>T (p.Glu1122Ter) c.2545G>T (p.Glu849Ter) n.4096G>T | COSMIC |
13 | g.51937502C= | CA2091553790 | ATP7B | c.*1527G= (n.*1527G=) c.*2621G= (n.*2621G=) c.3256G= (p.Glu1086=) c.3877G= (p.Glu1293=) c.3544G= (p.Glu1182=) c.3625G= (p.Glu1209=) n.1118G= c.3643G= (p.Glu1215=) n.4016G= n.743G= c.2812G= (p.Glu938=) c.2587G= (p.Glu863=) c.3682G= (p.Glu1228=) c.1655G= c.*978G= (n.*978G=) n.4621G= n.3222G= c.3733G= (p.Glu1245=) c.3781G= (p.Glu1261=) c.3841G= (p.Glu1281=) c.3391G= (p.Glu1131=) c.1693G= (p.Glu565=) c.1510G= (p.Glu504=) c.3742G= (p.Glu1248=) c.3694G= (p.Glu1232=) c.3463G= (p.Glu1155=) c.3364G= (p.Glu1122=) c.2545G= (p.Glu849=) n.4096G= | |
13 | g.51937502C>G | CA388021478 | ATP7B | c.*1527G>C (n.*1527G>C) c.*2621G>C (n.*2621G>C) c.3256G>C (p.Glu1086Gln) c.3877G>C (p.Glu1293Gln) c.3544G>C (p.Glu1182Gln) c.3625G>C (p.Glu1209Gln) n.1118G>C c.3643G>C (p.Glu1215Gln) n.4016G>C n.743G>C c.2812G>C (p.Glu938Gln) c.2587G>C (p.Glu863Gln) c.3682G>C (p.Glu1228Gln) c.1655G>C c.*978G>C (n.*978G>C) n.4621G>C n.3222G>C c.3733G>C (p.Glu1245Gln) c.3781G>C (p.Glu1261Gln) c.3841G>C (p.Glu1281Gln) c.3391G>C (p.Glu1131Gln) c.1693G>C (p.Glu565Gln) c.1510G>C (p.Glu504Gln) c.3742G>C (p.Glu1248Gln) c.3694G>C (p.Glu1232Gln) c.3463G>C (p.Glu1155Gln) c.3364G>C (p.Glu1122Gln) c.2545G>C (p.Glu849Gln) n.4096G>C | gnomAD v4 |
13 | g.51937502C>T | CA6988552 | ATP7B | c.*1527G>A (n.*1527G>A) c.*2621G>A (n.*2621G>A) c.3256G>A (p.Glu1086Lys) c.3877G>A (p.Glu1293Lys) c.3544G>A (p.Glu1182Lys) c.3625G>A (p.Glu1209Lys) n.1118G>A c.3643G>A (p.Glu1215Lys) n.4016G>A n.743G>A c.2812G>A (p.Glu938Lys) c.2587G>A (p.Glu863Lys) c.3682G>A (p.Glu1228Lys) c.1655G>A c.*978G>A (n.*978G>A) n.4621G>A n.3222G>A c.3733G>A (p.Glu1245Lys) c.3781G>A (p.Glu1261Lys) c.3841G>A (p.Glu1281Lys) c.3391G>A (p.Glu1131Lys) c.1693G>A (p.Glu565Lys) c.1510G>A (p.Glu504Lys) c.3742G>A (p.Glu1248Lys) c.3694G>A (p.Glu1232Lys) c.3463G>A (p.Glu1155Lys) c.3364G>A (p.Glu1122Lys) c.2545G>A (p.Glu849Lys) n.4096G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937503G>A | CA250073562 | ATP7B | c.*1526C>T (n.*1526C>T) c.*2620C>T (n.*2620C>T) c.3255C>T (p.Ile1085=) c.3876C>T (p.Ile1292=) c.3543C>T (p.Ile1181=) c.3624C>T (p.Ile1208=) n.1117C>T c.3642C>T (p.Ile1214=) n.4015C>T n.742C>T c.2811C>T (p.Ile937=) c.2586C>T (p.Ile862=) c.3681C>T (p.Ile1227=) c.1654C>T c.*977C>T (n.*977C>T) n.4620C>T n.3221C>T c.3732C>T (p.Ile1244=) c.3780C>T (p.Ile1260=) c.3840C>T (p.Ile1280=) c.3390C>T (p.Ile1130=) c.1692C>T (p.Ile564=) c.1509C>T (p.Ile503=) c.3741C>T (p.Ile1247=) c.3693C>T (p.Ile1231=) c.3462C>T (p.Ile1154=) c.3363C>T (p.Ile1121=) c.2544C>T (p.Ile848=) n.4095C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937503G>C | CA388021483 | ATP7B | c.*1526C>G (n.*1526C>G) c.*2620C>G (n.*2620C>G) c.3255C>G (p.Ile1085Met) c.3876C>G (p.Ile1292Met) c.3543C>G (p.Ile1181Met) c.3624C>G (p.Ile1208Met) n.1117C>G c.3642C>G (p.Ile1214Met) n.4015C>G n.742C>G c.2811C>G (p.Ile937Met) c.2586C>G (p.Ile862Met) c.3681C>G (p.Ile1227Met) c.1654C>G c.*977C>G (n.*977C>G) n.4620C>G n.3221C>G c.3732C>G (p.Ile1244Met) c.3780C>G (p.Ile1260Met) c.3840C>G (p.Ile1280Met) c.3390C>G (p.Ile1130Met) c.1692C>G (p.Ile564Met) c.1509C>G (p.Ile503Met) c.3741C>G (p.Ile1247Met) c.3693C>G (p.Ile1231Met) c.3462C>G (p.Ile1154Met) c.3363C>G (p.Ile1121Met) c.2544C>G (p.Ile848Met) n.4095C>G | dbSNP gnomAD v2 |
13 | g.51937503G= | CA2091553798 | ATP7B | c.*1526C= (n.*1526C=) c.*2620C= (n.*2620C=) c.3255C= (p.Ile1085=) c.3876C= (p.Ile1292=) c.3543C= (p.Ile1181=) c.3624C= (p.Ile1208=) n.1117C= c.3642C= (p.Ile1214=) n.4015C= n.742C= c.2811C= (p.Ile937=) c.2586C= (p.Ile862=) c.3681C= (p.Ile1227=) c.1654C= c.*977C= (n.*977C=) n.4620C= n.3221C= c.3732C= (p.Ile1244=) c.3780C= (p.Ile1260=) c.3840C= (p.Ile1280=) c.3390C= (p.Ile1130=) c.1692C= (p.Ile564=) c.1509C= (p.Ile503=) c.3741C= (p.Ile1247=) c.3693C= (p.Ile1231=) c.3462C= (p.Ile1154=) c.3363C= (p.Ile1121=) c.2544C= (p.Ile848=) n.4095C= | |
13 | g.51937503G>T | CA484024283 | ATP7B | c.*1526C>A (n.*1526C>A) c.*2620C>A (n.*2620C>A) c.3255C>A (p.Ile1085=) c.3876C>A (p.Ile1292=) c.3543C>A (p.Ile1181=) c.3624C>A (p.Ile1208=) n.1117C>A c.3642C>A (p.Ile1214=) n.4015C>A n.742C>A c.2811C>A (p.Ile937=) c.2586C>A (p.Ile862=) c.3681C>A (p.Ile1227=) c.1654C>A c.*977C>A (n.*977C>A) n.4620C>A n.3221C>A c.3732C>A (p.Ile1244=) c.3780C>A (p.Ile1260=) c.3840C>A (p.Ile1280=) c.3390C>A (p.Ile1130=) c.1692C>A (p.Ile564=) c.1509C>A (p.Ile503=) c.3741C>A (p.Ile1247=) c.3693C>A (p.Ile1231=) c.3462C>A (p.Ile1154=) c.3363C>A (p.Ile1121=) c.2544C>A (p.Ile848=) n.4095C>A | |
13 | g.51937503_51937527del | CA912974791 | ATP7B | c.*1502_*1526del (n.*1502_*1526del) c.*2596_*2620del (n.*2596_*2620del) c.3231_3255del (p.Ile1077MetfsTer?) c.3852_3876del (p.Ile1284MetfsTer?) c.3519_3543del (p.Ile1173MetfsTer?) c.3600_3624del (p.Ile1200MetfsTer?) n.1093_1117del c.3618_3642del (p.Ile1206MetfsTer?) n.3991_4015del n.718_742del c.2787_2811del (p.Ile929MetfsTer?) c.2562_2586del (p.Ile854MetfsTer?) c.3657_3681del (p.Ile1219MetfsTer?) c.1630_1654del c.*953_*977del (n.*953_*977del) n.4596_4620del n.3197_3221del c.3708_3732del (p.Ile1236MetfsTer?) c.3756_3780del (p.Ile1252MetfsTer?) c.3816_3840del (p.Ile1272MetfsTer?) c.3366_3390del (p.Ile1122MetfsTer?) c.1668_1692del (p.Ile556MetfsTer?) c.1485_1509del (p.Ile495MetfsTer?) c.3717_3741del (p.Ile1239MetfsTer?) c.3669_3693del (p.Ile1223MetfsTer?) c.3438_3462del (p.Ile1146MetfsTer?) c.3339_3363del (p.Ile1113MetfsTer?) c.2520_2544del (p.Ile840MetfsTer?) n.4071_4095del | |
13 | g.51937503_51937527delinsGATGGCCACATCCGTGCCGGTGCCA | CA2091553802 | ATP7B | c.*1502_*1526delinsTGGCACCGGCACGGATGTGGCCATC (n.*1502_*1526delinsTGGCACCGGCACGGATGTGGCCATC) c.*2596_*2620delinsTGGCACCGGCACGGATGTGGCCATC (n.*2596_*2620delinsTGGCACCGGCACGGATGTGGCCATC) c.3231_3255delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1077=) c.3852_3876delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1284=) c.3519_3543delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1173=) c.3600_3624delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1200=) n.1093_1117delinsTGGCACCGGCACGGATGTGGCCATC c.3618_3642delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1206=) n.3991_4015delinsTGGCACCGGCACGGATGTGGCCATC n.718_742delinsTGGCACCGGCACGGATGTGGCCATC c.2787_2811delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile929=) c.2562_2586delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile854=) c.3657_3681delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1219=) c.1630_1654delinsTGGCACCGGCACGGATGTGGCCATC c.*953_*977delinsTGGCACCGGCACGGATGTGGCCATC (n.*953_*977delinsTGGCACCGGCACGGATGTGGCCATC) n.4596_4620delinsTGGCACCGGCACGGATGTGGCCATC n.3197_3221delinsTGGCACCGGCACGGATGTGGCCATC c.3708_3732delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1236=) c.3756_3780delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1252=) c.3816_3840delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1272=) c.3366_3390delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1122=) c.1668_1692delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile556=) c.1485_1509delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile495=) c.3717_3741delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1239=) c.3669_3693delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1223=) c.3438_3462delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1146=) c.3339_3363delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile1113=) c.2520_2544delinsTGGCACCGGCACGGATGTGGCCATC (p.Ile840=) n.4071_4095delinsTGGCACCGGCACGGATGTGGCCATC | |
13 | g.51937503_51937528del | CA2695218750 | ATP7B | c.*1501_*1526del (n.*1501_*1526del) c.*2595_*2620del (n.*2595_*2620del) c.3230_3255del (p.Ile1077ArgfsTer11) c.3851_3876del (p.Ile1284ArgfsTer11) c.3518_3543del (p.Ile1173ArgfsTer11) c.3599_3624del (p.Ile1200ArgfsTer11) n.1092_1117del c.3617_3642del (p.Ile1206ArgfsTer11) n.3990_4015del n.717_742del c.2786_2811del (p.Ile929ArgfsTer11) c.2561_2586del (p.Ile854ArgfsTer11) c.3656_3681del (p.Ile1219ArgfsTer11) c.1629_1654del c.*952_*977del (n.*952_*977del) n.4595_4620del n.3196_3221del c.3707_3732del (p.Ile1236ArgfsTer11) c.3755_3780del (p.Ile1252ArgfsTer11) c.3815_3840del (p.Ile1272ArgfsTer11) c.3365_3390del (p.Ile1122ArgfsTer11) c.1667_1692del (p.Ile556ArgfsTer11) c.1484_1509del (p.Ile495ArgfsTer11) c.3716_3741del (p.Ile1239ArgfsTer11) c.3668_3693del (p.Ile1223ArgfsTer11) c.3437_3462del (p.Ile1146ArgfsTer11) c.3338_3363del (p.Ile1113ArgfsTer11) c.2519_2544del (p.Ile840ArgfsTer11) n.4070_4095del | |
13 | g.51937504A>C | CA388021486 | ATP7B | c.*1525T>G (n.*1525T>G) c.*2619T>G (n.*2619T>G) c.3254T>G (p.Ile1085Ser) c.3875T>G (p.Ile1292Ser) c.3542T>G (p.Ile1181Ser) c.3623T>G (p.Ile1208Ser) n.1116T>G c.3641T>G (p.Ile1214Ser) n.4014T>G n.741T>G c.2810T>G (p.Ile937Ser) c.2585T>G (p.Ile862Ser) c.3680T>G (p.Ile1227Ser) c.1653T>G c.*976T>G (n.*976T>G) n.4619T>G n.3220T>G c.3731T>G (p.Ile1244Ser) c.3779T>G (p.Ile1260Ser) c.3839T>G (p.Ile1280Ser) c.3389T>G (p.Ile1130Ser) c.1691T>G (p.Ile564Ser) c.1508T>G (p.Ile503Ser) c.3740T>G (p.Ile1247Ser) c.3692T>G (p.Ile1231Ser) c.3461T>G (p.Ile1154Ser) c.3362T>G (p.Ile1121Ser) c.2543T>G (p.Ile848Ser) n.4094T>G | |
13 | g.51937504A>G | CA388021488 | ATP7B | c.*1525T>C (n.*1525T>C) c.*2619T>C (n.*2619T>C) c.3254T>C (p.Ile1085Thr) c.3875T>C (p.Ile1292Thr) c.3542T>C (p.Ile1181Thr) c.3623T>C (p.Ile1208Thr) n.1116T>C c.3641T>C (p.Ile1214Thr) n.4014T>C n.741T>C c.2810T>C (p.Ile937Thr) c.2585T>C (p.Ile862Thr) c.3680T>C (p.Ile1227Thr) c.1653T>C c.*976T>C (n.*976T>C) n.4619T>C n.3220T>C c.3731T>C (p.Ile1244Thr) c.3779T>C (p.Ile1260Thr) c.3839T>C (p.Ile1280Thr) c.3389T>C (p.Ile1130Thr) c.1691T>C (p.Ile564Thr) c.1508T>C (p.Ile503Thr) c.3740T>C (p.Ile1247Thr) c.3692T>C (p.Ile1231Thr) c.3461T>C (p.Ile1154Thr) c.3362T>C (p.Ile1121Thr) c.2543T>C (p.Ile848Thr) n.4094T>C | |
13 | g.51937504A>T | CA388021491 | ATP7B | c.*1525T>A (n.*1525T>A) c.*2619T>A (n.*2619T>A) c.3254T>A (p.Ile1085Asn) c.3875T>A (p.Ile1292Asn) c.3542T>A (p.Ile1181Asn) c.3623T>A (p.Ile1208Asn) n.1116T>A c.3641T>A (p.Ile1214Asn) n.4014T>A n.741T>A c.2810T>A (p.Ile937Asn) c.2585T>A (p.Ile862Asn) c.3680T>A (p.Ile1227Asn) c.1653T>A c.*976T>A (n.*976T>A) n.4619T>A n.3220T>A c.3731T>A (p.Ile1244Asn) c.3779T>A (p.Ile1260Asn) c.3839T>A (p.Ile1280Asn) c.3389T>A (p.Ile1130Asn) c.1691T>A (p.Ile564Asn) c.1508T>A (p.Ile503Asn) c.3740T>A (p.Ile1247Asn) c.3692T>A (p.Ile1231Asn) c.3461T>A (p.Ile1154Asn) c.3362T>A (p.Ile1121Asn) c.2543T>A (p.Ile848Asn) n.4094T>A | gnomAD v4 |
13 | g.51937513_51937536del | CA658823694 | ATP7B | c.*1502_*1525del (n.*1502_*1525del) c.*2596_*2619del (n.*2596_*2619del) c.3231_3254del (p.Gly1078_Ile1085del) c.3852_3875del (p.Gly1285_Ile1292del) c.3519_3542del (p.Gly1174_Ile1181del) c.3600_3623del (p.Gly1201_Ile1208del) n.1093_1116del c.3618_3641del (p.Gly1207_Ile1214del) n.3991_4014del n.718_741del c.2787_2810del (p.Gly930_Ile937del) c.2562_2585del (p.Gly855_Ile862del) c.3657_3680del (p.Gly1220_Ile1227del) c.1630_1653del c.*953_*976del (n.*953_*976del) n.4596_4619del n.3197_3220del c.3708_3731del (p.Gly1237_Ile1244del) c.3756_3779del (p.Gly1253_Ile1260del) c.3816_3839del (p.Gly1273_Ile1280del) c.3366_3389del (p.Gly1123_Ile1130del) c.1668_1691del (p.Gly557_Ile564del) c.1485_1508del (p.Gly496_Ile503del) c.3717_3740del (p.Gly1240_Ile1247del) c.3669_3692del (p.Gly1224_Ile1231del) c.3438_3461del (p.Gly1147_Ile1154del) c.3339_3362del (p.Gly1114_Ile1121del) c.2520_2543del (p.Gly841_Ile848del) n.4071_4094del | ClinVar dbSNP gnomAD v4 |
13 | g.51937505T>A | CA388021493 | ATP7B | c.*1524A>T (n.*1524A>T) c.*2618A>T (n.*2618A>T) c.3253A>T (p.Ile1085Phe) c.3874A>T (p.Ile1292Phe) c.3541A>T (p.Ile1181Phe) c.3622A>T (p.Ile1208Phe) n.1115A>T c.3640A>T (p.Ile1214Phe) n.4013A>T n.740A>T c.2809A>T (p.Ile937Phe) c.2584A>T (p.Ile862Phe) c.3679A>T (p.Ile1227Phe) c.1652A>T c.*975A>T (n.*975A>T) n.4618A>T n.3219A>T c.3730A>T (p.Ile1244Phe) c.3778A>T (p.Ile1260Phe) c.3838A>T (p.Ile1280Phe) c.3388A>T (p.Ile1130Phe) c.1690A>T (p.Ile564Phe) c.1507A>T (p.Ile503Phe) c.3739A>T (p.Ile1247Phe) c.3691A>T (p.Ile1231Phe) c.3460A>T (p.Ile1154Phe) c.3361A>T (p.Ile1121Phe) c.2542A>T (p.Ile848Phe) n.4093A>T | |
13 | g.51937505T>C | CA6988553 | ATP7B | c.*1524A>G (n.*1524A>G) c.*2618A>G (n.*2618A>G) c.3253A>G (p.Ile1085Val) c.3874A>G (p.Ile1292Val) c.3541A>G (p.Ile1181Val) c.3622A>G (p.Ile1208Val) n.1115A>G c.3640A>G (p.Ile1214Val) n.4013A>G n.740A>G c.2809A>G (p.Ile937Val) c.2584A>G (p.Ile862Val) c.3679A>G (p.Ile1227Val) c.1652A>G c.*975A>G (n.*975A>G) n.4618A>G n.3219A>G c.3730A>G (p.Ile1244Val) c.3778A>G (p.Ile1260Val) c.3838A>G (p.Ile1280Val) c.3388A>G (p.Ile1130Val) c.1690A>G (p.Ile564Val) c.1507A>G (p.Ile503Val) c.3739A>G (p.Ile1247Val) c.3691A>G (p.Ile1231Val) c.3460A>G (p.Ile1154Val) c.3361A>G (p.Ile1121Val) c.2542A>G (p.Ile848Val) n.4093A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937505T>G | CA388021497 | ATP7B | c.*1524A>C (n.*1524A>C) c.*2618A>C (n.*2618A>C) c.3253A>C (p.Ile1085Leu) c.3874A>C (p.Ile1292Leu) c.3541A>C (p.Ile1181Leu) c.3622A>C (p.Ile1208Leu) n.1115A>C c.3640A>C (p.Ile1214Leu) n.4013A>C n.740A>C c.2809A>C (p.Ile937Leu) c.2584A>C (p.Ile862Leu) c.3679A>C (p.Ile1227Leu) c.1652A>C c.*975A>C (n.*975A>C) n.4618A>C n.3219A>C c.3730A>C (p.Ile1244Leu) c.3778A>C (p.Ile1260Leu) c.3838A>C (p.Ile1280Leu) c.3388A>C (p.Ile1130Leu) c.1690A>C (p.Ile564Leu) c.1507A>C (p.Ile503Leu) c.3739A>C (p.Ile1247Leu) c.3691A>C (p.Ile1231Leu) c.3460A>C (p.Ile1154Leu) c.3361A>C (p.Ile1121Leu) c.2542A>C (p.Ile848Leu) n.4093A>C | |
13 | g.51937505T= | CA2091553811 | ATP7B | c.*1524A= (n.*1524A=) c.*2618A= (n.*2618A=) c.3253A= (p.Ile1085=) c.3874A= (p.Ile1292=) c.3541A= (p.Ile1181=) c.3622A= (p.Ile1208=) n.1115A= c.3640A= (p.Ile1214=) n.4013A= n.740A= c.2809A= (p.Ile937=) c.2584A= (p.Ile862=) c.3679A= (p.Ile1227=) c.1652A= c.*975A= (n.*975A=) n.4618A= n.3219A= c.3730A= (p.Ile1244=) c.3778A= (p.Ile1260=) c.3838A= (p.Ile1280=) c.3388A= (p.Ile1130=) c.1690A= (p.Ile564=) c.1507A= (p.Ile503=) c.3739A= (p.Ile1247=) c.3691A= (p.Ile1231=) c.3460A= (p.Ile1154=) c.3361A= (p.Ile1121=) c.2542A= (p.Ile848=) n.4093A= | |
13 | g.51937506G>A | CA484024284 | ATP7B | c.*1523C>T (n.*1523C>T) c.*2617C>T (n.*2617C>T) c.3252C>T (p.Ala1084=) c.3873C>T (p.Ala1291=) c.3540C>T (p.Ala1180=) c.3621C>T (p.Ala1207=) n.1114C>T c.3639C>T (p.Ala1213=) n.4012C>T n.739C>T c.2808C>T (p.Ala936=) c.2583C>T (p.Ala861=) c.3678C>T (p.Ala1226=) c.1651C>T c.*974C>T (n.*974C>T) n.4617C>T n.3218C>T c.3729C>T (p.Ala1243=) c.3777C>T (p.Ala1259=) c.3837C>T (p.Ala1279=) c.3387C>T (p.Ala1129=) c.1689C>T (p.Ala563=) c.1506C>T (p.Ala502=) c.3738C>T (p.Ala1246=) c.3690C>T (p.Ala1230=) c.3459C>T (p.Ala1153=) c.3360C>T (p.Ala1120=) c.2541C>T (p.Ala847=) n.4092C>T | |
13 | g.51937506G>C | CA484024285 | ATP7B | c.*1523C>G (n.*1523C>G) c.*2617C>G (n.*2617C>G) c.3252C>G (p.Ala1084=) c.3873C>G (p.Ala1291=) c.3540C>G (p.Ala1180=) c.3621C>G (p.Ala1207=) n.1114C>G c.3639C>G (p.Ala1213=) n.4012C>G n.739C>G c.2808C>G (p.Ala936=) c.2583C>G (p.Ala861=) c.3678C>G (p.Ala1226=) c.1651C>G c.*974C>G (n.*974C>G) n.4617C>G n.3218C>G c.3729C>G (p.Ala1243=) c.3777C>G (p.Ala1259=) c.3837C>G (p.Ala1279=) c.3387C>G (p.Ala1129=) c.1689C>G (p.Ala563=) c.1506C>G (p.Ala502=) c.3738C>G (p.Ala1246=) c.3690C>G (p.Ala1230=) c.3459C>G (p.Ala1153=) c.3360C>G (p.Ala1120=) c.2541C>G (p.Ala847=) n.4092C>G | |
13 | g.51937506G>T | CA484024286 | ATP7B | c.*1523C>A (n.*1523C>A) c.*2617C>A (n.*2617C>A) c.3252C>A (p.Ala1084=) c.3873C>A (p.Ala1291=) c.3540C>A (p.Ala1180=) c.3621C>A (p.Ala1207=) n.1114C>A c.3639C>A (p.Ala1213=) n.4012C>A n.739C>A c.2808C>A (p.Ala936=) c.2583C>A (p.Ala861=) c.3678C>A (p.Ala1226=) c.1651C>A c.*974C>A (n.*974C>A) n.4617C>A n.3218C>A c.3729C>A (p.Ala1243=) c.3777C>A (p.Ala1259=) c.3837C>A (p.Ala1279=) c.3387C>A (p.Ala1129=) c.1689C>A (p.Ala563=) c.1506C>A (p.Ala502=) c.3738C>A (p.Ala1246=) c.3690C>A (p.Ala1230=) c.3459C>A (p.Ala1153=) c.3360C>A (p.Ala1120=) c.2541C>A (p.Ala847=) n.4092C>A | |
13 | g.51937507G>A | CA388021501 | ATP7B | c.*1522C>T (n.*1522C>T) c.*2616C>T (n.*2616C>T) c.3251C>T (p.Ala1084Val) c.3872C>T (p.Ala1291Val) c.3539C>T (p.Ala1180Val) c.3620C>T (p.Ala1207Val) n.1113C>T c.3638C>T (p.Ala1213Val) n.4011C>T n.738C>T c.2807C>T (p.Ala936Val) c.2582C>T (p.Ala861Val) c.3677C>T (p.Ala1226Val) c.1650C>T c.*973C>T (n.*973C>T) n.4616C>T n.3217C>T c.3728C>T (p.Ala1243Val) c.3776C>T (p.Ala1259Val) c.3836C>T (p.Ala1279Val) c.3386C>T (p.Ala1129Val) c.1688C>T (p.Ala563Val) c.1505C>T (p.Ala502Val) c.3737C>T (p.Ala1246Val) c.3689C>T (p.Ala1230Val) c.3458C>T (p.Ala1153Val) c.3359C>T (p.Ala1120Val) c.2540C>T (p.Ala847Val) n.4091C>T | |
13 | g.51937507G>C | CA388021503 | ATP7B | c.*1522C>G (n.*1522C>G) c.*2616C>G (n.*2616C>G) c.3251C>G (p.Ala1084Gly) c.3872C>G (p.Ala1291Gly) c.3539C>G (p.Ala1180Gly) c.3620C>G (p.Ala1207Gly) n.1113C>G c.3638C>G (p.Ala1213Gly) n.4011C>G n.738C>G c.2807C>G (p.Ala936Gly) c.2582C>G (p.Ala861Gly) c.3677C>G (p.Ala1226Gly) c.1650C>G c.*973C>G (n.*973C>G) n.4616C>G n.3217C>G c.3728C>G (p.Ala1243Gly) c.3776C>G (p.Ala1259Gly) c.3836C>G (p.Ala1279Gly) c.3386C>G (p.Ala1129Gly) c.1688C>G (p.Ala563Gly) c.1505C>G (p.Ala502Gly) c.3737C>G (p.Ala1246Gly) c.3689C>G (p.Ala1230Gly) c.3458C>G (p.Ala1153Gly) c.3359C>G (p.Ala1120Gly) c.2540C>G (p.Ala847Gly) n.4091C>G | |
13 | g.51937507G>T | CA388021505 | ATP7B | c.*1522C>A (n.*1522C>A) c.*2616C>A (n.*2616C>A) c.3251C>A (p.Ala1084Asp) c.3872C>A (p.Ala1291Asp) c.3539C>A (p.Ala1180Asp) c.3620C>A (p.Ala1207Asp) n.1113C>A c.3638C>A (p.Ala1213Asp) n.4011C>A n.738C>A c.2807C>A (p.Ala936Asp) c.2582C>A (p.Ala861Asp) c.3677C>A (p.Ala1226Asp) c.1650C>A c.*973C>A (n.*973C>A) n.4616C>A n.3217C>A c.3728C>A (p.Ala1243Asp) c.3776C>A (p.Ala1259Asp) c.3836C>A (p.Ala1279Asp) c.3386C>A (p.Ala1129Asp) c.1688C>A (p.Ala563Asp) c.1505C>A (p.Ala502Asp) c.3737C>A (p.Ala1246Asp) c.3689C>A (p.Ala1230Asp) c.3458C>A (p.Ala1153Asp) c.3359C>A (p.Ala1120Asp) c.2540C>A (p.Ala847Asp) n.4091C>A | |
13 | g.51937508C>A | CA388021508 | ATP7B | c.*1521G>T (n.*1521G>T) c.*2615G>T (n.*2615G>T) c.3250G>T (p.Ala1084Ser) c.3871G>T (p.Ala1291Ser) c.3538G>T (p.Ala1180Ser) c.3619G>T (p.Ala1207Ser) n.1112G>T c.3637G>T (p.Ala1213Ser) n.4010G>T n.737G>T c.2806G>T (p.Ala936Ser) c.2581G>T (p.Ala861Ser) c.3676G>T (p.Ala1226Ser) c.1649G>T c.*972G>T (n.*972G>T) n.4615G>T n.3216G>T c.3727G>T (p.Ala1243Ser) c.3775G>T (p.Ala1259Ser) c.3835G>T (p.Ala1279Ser) c.3385G>T (p.Ala1129Ser) c.1687G>T (p.Ala563Ser) c.1504G>T (p.Ala502Ser) c.3736G>T (p.Ala1246Ser) c.3688G>T (p.Ala1230Ser) c.3457G>T (p.Ala1153Ser) c.3358G>T (p.Ala1120Ser) c.2539G>T (p.Ala847Ser) n.4090G>T | gnomAD v4 |
13 | g.51937508C>G | CA388021511 | ATP7B | c.*1521G>C (n.*1521G>C) c.*2615G>C (n.*2615G>C) c.3250G>C (p.Ala1084Pro) c.3871G>C (p.Ala1291Pro) c.3538G>C (p.Ala1180Pro) c.3619G>C (p.Ala1207Pro) n.1112G>C c.3637G>C (p.Ala1213Pro) n.4010G>C n.737G>C c.2806G>C (p.Ala936Pro) c.2581G>C (p.Ala861Pro) c.3676G>C (p.Ala1226Pro) c.1649G>C c.*972G>C (n.*972G>C) n.4615G>C n.3216G>C c.3727G>C (p.Ala1243Pro) c.3775G>C (p.Ala1259Pro) c.3835G>C (p.Ala1279Pro) c.3385G>C (p.Ala1129Pro) c.1687G>C (p.Ala563Pro) c.1504G>C (p.Ala502Pro) c.3736G>C (p.Ala1246Pro) c.3688G>C (p.Ala1230Pro) c.3457G>C (p.Ala1153Pro) c.3358G>C (p.Ala1120Pro) c.2539G>C (p.Ala847Pro) n.4090G>C | |
13 | g.51937508C>T | CA388021519 | ATP7B | c.*1521G>A (n.*1521G>A) c.*2615G>A (n.*2615G>A) c.3250G>A (p.Ala1084Thr) c.3871G>A (p.Ala1291Thr) c.3538G>A (p.Ala1180Thr) c.3619G>A (p.Ala1207Thr) n.1112G>A c.3637G>A (p.Ala1213Thr) n.4010G>A n.737G>A c.2806G>A (p.Ala936Thr) c.2581G>A (p.Ala861Thr) c.3676G>A (p.Ala1226Thr) c.1649G>A c.*972G>A (n.*972G>A) n.4615G>A n.3216G>A c.3727G>A (p.Ala1243Thr) c.3775G>A (p.Ala1259Thr) c.3835G>A (p.Ala1279Thr) c.3385G>A (p.Ala1129Thr) c.1687G>A (p.Ala563Thr) c.1504G>A (p.Ala502Thr) c.3736G>A (p.Ala1246Thr) c.3688G>A (p.Ala1230Thr) c.3457G>A (p.Ala1153Thr) c.3358G>A (p.Ala1120Thr) c.2539G>A (p.Ala847Thr) n.4090G>A | |
13 | g.51937509del | CA2695218751 | ATP7B | c.*1521del (n.*1521del) c.*2615del (n.*2615del) c.3250del (p.Ala1084ProfsTer?) c.3871del (p.Ala1291ProfsTer?) c.3538del (p.Ala1180ProfsTer?) c.3619del (p.Ala1207ProfsTer?) n.1112del c.3637del (p.Ala1213ProfsTer?) n.4010del n.737del c.2806del (p.Ala936ProfsTer?) c.2581del (p.Ala861ProfsTer?) c.3676del (p.Ala1226ProfsTer?) c.1649del c.*972del (n.*972del) n.4615del n.3216del c.3727del (p.Ala1243ProfsTer?) c.3775del (p.Ala1259ProfsTer?) c.3835del (p.Ala1279ProfsTer?) c.3385del (p.Ala1129ProfsTer?) c.1687del (p.Ala563ProfsTer?) c.1504del (p.Ala502ProfsTer?) c.3736del (p.Ala1246ProfsTer?) c.3688del (p.Ala1230ProfsTer?) c.3457del (p.Ala1153ProfsTer?) c.3358del (p.Ala1120ProfsTer?) c.2539del (p.Ala847ProfsTer?) n.4090del | |
13 | g.51937509C>A | CA484024288 | ATP7B | c.*1520G>T (n.*1520G>T) c.*2614G>T (n.*2614G>T) c.3249G>T (p.Val1083=) c.3870G>T (p.Val1290=) c.3537G>T (p.Val1179=) c.3618G>T (p.Val1206=) n.1111G>T c.3636G>T (p.Val1212=) n.4009G>T n.736G>T c.2805G>T (p.Val935=) c.2580G>T (p.Val860=) c.3675G>T (p.Val1225=) c.1648G>T c.*971G>T (n.*971G>T) n.4614G>T n.3215G>T c.3726G>T (p.Val1242=) c.3774G>T (p.Val1258=) c.3834G>T (p.Val1278=) c.3384G>T (p.Val1128=) c.1686G>T (p.Val562=) c.1503G>T (p.Val501=) c.3735G>T (p.Val1245=) c.3687G>T (p.Val1229=) c.3456G>T (p.Val1152=) c.3357G>T (p.Val1119=) c.2538G>T (p.Val846=) n.4089G>T | |
13 | g.51937509C>G | CA484024289 | ATP7B | c.*1520G>C (n.*1520G>C) c.*2614G>C (n.*2614G>C) c.3249G>C (p.Val1083=) c.3870G>C (p.Val1290=) c.3537G>C (p.Val1179=) c.3618G>C (p.Val1206=) n.1111G>C c.3636G>C (p.Val1212=) n.4009G>C n.736G>C c.2805G>C (p.Val935=) c.2580G>C (p.Val860=) c.3675G>C (p.Val1225=) c.1648G>C c.*971G>C (n.*971G>C) n.4614G>C n.3215G>C c.3726G>C (p.Val1242=) c.3774G>C (p.Val1258=) c.3834G>C (p.Val1278=) c.3384G>C (p.Val1128=) c.1686G>C (p.Val562=) c.1503G>C (p.Val501=) c.3735G>C (p.Val1245=) c.3687G>C (p.Val1229=) c.3456G>C (p.Val1152=) c.3357G>C (p.Val1119=) c.2538G>C (p.Val846=) n.4089G>C | ClinVar dbSNP |
13 | g.51937509C>T | CA484024287 | ATP7B | c.*1520G>A (n.*1520G>A) c.*2614G>A (n.*2614G>A) c.3249G>A (p.Val1083=) c.3870G>A (p.Val1290=) c.3537G>A (p.Val1179=) c.3618G>A (p.Val1206=) n.1111G>A c.3636G>A (p.Val1212=) n.4009G>A n.736G>A c.2805G>A (p.Val935=) c.2580G>A (p.Val860=) c.3675G>A (p.Val1225=) c.1648G>A c.*971G>A (n.*971G>A) n.4614G>A n.3215G>A c.3726G>A (p.Val1242=) c.3774G>A (p.Val1258=) c.3834G>A (p.Val1278=) c.3384G>A (p.Val1128=) c.1686G>A (p.Val562=) c.1503G>A (p.Val501=) c.3735G>A (p.Val1245=) c.3687G>A (p.Val1229=) c.3456G>A (p.Val1152=) c.3357G>A (p.Val1119=) c.2538G>A (p.Val846=) n.4089G>A | gnomAD v4 |
13 | g.51937510A>C | CA388021526 | ATP7B | c.*1519T>G (n.*1519T>G) c.*2613T>G (n.*2613T>G) c.3248T>G (p.Val1083Gly) c.3869T>G (p.Val1290Gly) c.3536T>G (p.Val1179Gly) c.3617T>G (p.Val1206Gly) n.1110T>G c.3635T>G (p.Val1212Gly) n.4008T>G n.735T>G c.2804T>G (p.Val935Gly) c.2579T>G (p.Val860Gly) c.3674T>G (p.Val1225Gly) c.1647T>G c.*970T>G (n.*970T>G) n.4613T>G n.3214T>G c.3725T>G (p.Val1242Gly) c.3773T>G (p.Val1258Gly) c.3833T>G (p.Val1278Gly) c.3383T>G (p.Val1128Gly) c.1685T>G (p.Val562Gly) c.1502T>G (p.Val501Gly) c.3734T>G (p.Val1245Gly) c.3686T>G (p.Val1229Gly) c.3455T>G (p.Val1152Gly) c.3356T>G (p.Val1119Gly) c.2537T>G (p.Val846Gly) n.4088T>G | |
13 | g.51937510A>G | CA388021539 | ATP7B | c.*1519T>C (n.*1519T>C) c.*2613T>C (n.*2613T>C) c.3248T>C (p.Val1083Ala) c.3869T>C (p.Val1290Ala) c.3536T>C (p.Val1179Ala) c.3617T>C (p.Val1206Ala) n.1110T>C c.3635T>C (p.Val1212Ala) n.4008T>C n.735T>C c.2804T>C (p.Val935Ala) c.2579T>C (p.Val860Ala) c.3674T>C (p.Val1225Ala) c.1647T>C c.*970T>C (n.*970T>C) n.4613T>C n.3214T>C c.3725T>C (p.Val1242Ala) c.3773T>C (p.Val1258Ala) c.3833T>C (p.Val1278Ala) c.3383T>C (p.Val1128Ala) c.1685T>C (p.Val562Ala) c.1502T>C (p.Val501Ala) c.3734T>C (p.Val1245Ala) c.3686T>C (p.Val1229Ala) c.3455T>C (p.Val1152Ala) c.3356T>C (p.Val1119Ala) c.2537T>C (p.Val846Ala) n.4088T>C | gnomAD v4 |
13 | g.51937510A>T | CA388021524 | ATP7B | c.*1519T>A (n.*1519T>A) c.*2613T>A (n.*2613T>A) c.3248T>A (p.Val1083Glu) c.3869T>A (p.Val1290Glu) c.3536T>A (p.Val1179Glu) c.3617T>A (p.Val1206Glu) n.1110T>A c.3635T>A (p.Val1212Glu) n.4008T>A n.735T>A c.2804T>A (p.Val935Glu) c.2579T>A (p.Val860Glu) c.3674T>A (p.Val1225Glu) c.1647T>A c.*970T>A (n.*970T>A) n.4613T>A n.3214T>A c.3725T>A (p.Val1242Glu) c.3773T>A (p.Val1258Glu) c.3833T>A (p.Val1278Glu) c.3383T>A (p.Val1128Glu) c.1685T>A (p.Val562Glu) c.1502T>A (p.Val501Glu) c.3734T>A (p.Val1245Glu) c.3686T>A (p.Val1229Glu) c.3455T>A (p.Val1152Glu) c.3356T>A (p.Val1119Glu) c.2537T>A (p.Val846Glu) n.4088T>A | |
13 | g.51937511del | CA2623119285 | ATP7B | c.*1518del (n.*1518del) c.*2612del (n.*2612del) c.3247del (p.Val1083TrpfsTer?) c.3868del (p.Val1290TrpfsTer?) c.3535del (p.Val1179TrpfsTer?) c.3616del (p.Val1206TrpfsTer?) n.1109del c.3634del (p.Val1212TrpfsTer?) n.4007del n.734del c.2803del (p.Val935TrpfsTer?) c.2578del (p.Val860TrpfsTer?) c.3673del (p.Val1225TrpfsTer?) c.1646del c.*969del (n.*969del) n.4612del n.3213del c.3724del (p.Val1242TrpfsTer?) c.3772del (p.Val1258TrpfsTer?) c.3832del (p.Val1278TrpfsTer?) c.3382del (p.Val1128TrpfsTer?) c.1684del (p.Val562TrpfsTer?) c.1501del (p.Val501TrpfsTer?) c.3733del (p.Val1245TrpfsTer?) c.3685del (p.Val1229TrpfsTer?) c.3454del (p.Val1152TrpfsTer?) c.3355del (p.Val1119TrpfsTer?) c.2536del (p.Val846TrpfsTer?) n.4087del | gnomAD v4 |
13 | g.51937511C>A | CA388021542 | ATP7B | c.*1518G>T (n.*1518G>T) c.*2612G>T (n.*2612G>T) c.3247G>T (p.Val1083Leu) c.3868G>T (p.Val1290Leu) c.3535G>T (p.Val1179Leu) c.3616G>T (p.Val1206Leu) n.1109G>T c.3634G>T (p.Val1212Leu) n.4007G>T n.734G>T c.2803G>T (p.Val935Leu) c.2578G>T (p.Val860Leu) c.3673G>T (p.Val1225Leu) c.1646G>T c.*969G>T (n.*969G>T) n.4612G>T n.3213G>T c.3724G>T (p.Val1242Leu) c.3772G>T (p.Val1258Leu) c.3832G>T (p.Val1278Leu) c.3382G>T (p.Val1128Leu) c.1684G>T (p.Val562Leu) c.1501G>T (p.Val501Leu) c.3733G>T (p.Val1245Leu) c.3685G>T (p.Val1229Leu) c.3454G>T (p.Val1152Leu) c.3355G>T (p.Val1119Leu) c.2536G>T (p.Val846Leu) n.4087G>T | gnomAD v4 |
13 | g.51937511C>G | CA388021546 | ATP7B | c.*1518G>C (n.*1518G>C) c.*2612G>C (n.*2612G>C) c.3247G>C (p.Val1083Leu) c.3868G>C (p.Val1290Leu) c.3535G>C (p.Val1179Leu) c.3616G>C (p.Val1206Leu) n.1109G>C c.3634G>C (p.Val1212Leu) n.4007G>C n.734G>C c.2803G>C (p.Val935Leu) c.2578G>C (p.Val860Leu) c.3673G>C (p.Val1225Leu) c.1646G>C c.*969G>C (n.*969G>C) n.4612G>C n.3213G>C c.3724G>C (p.Val1242Leu) c.3772G>C (p.Val1258Leu) c.3832G>C (p.Val1278Leu) c.3382G>C (p.Val1128Leu) c.1684G>C (p.Val562Leu) c.1501G>C (p.Val501Leu) c.3733G>C (p.Val1245Leu) c.3685G>C (p.Val1229Leu) c.3454G>C (p.Val1152Leu) c.3355G>C (p.Val1119Leu) c.2536G>C (p.Val846Leu) n.4087G>C | |
13 | g.51937511C>T | CA388021543 | ATP7B | c.*1518G>A (n.*1518G>A) c.*2612G>A (n.*2612G>A) c.3247G>A (p.Val1083Met) c.3868G>A (p.Val1290Met) c.3535G>A (p.Val1179Met) c.3616G>A (p.Val1206Met) n.1109G>A c.3634G>A (p.Val1212Met) n.4007G>A n.734G>A c.2803G>A (p.Val935Met) c.2578G>A (p.Val860Met) c.3673G>A (p.Val1225Met) c.1646G>A c.*969G>A (n.*969G>A) n.4612G>A n.3213G>A c.3724G>A (p.Val1242Met) c.3772G>A (p.Val1258Met) c.3832G>A (p.Val1278Met) c.3382G>A (p.Val1128Met) c.1684G>A (p.Val562Met) c.1501G>A (p.Val501Met) c.3733G>A (p.Val1245Met) c.3685G>A (p.Val1229Met) c.3454G>A (p.Val1152Met) c.3355G>A (p.Val1119Met) c.2536G>A (p.Val846Met) n.4087G>A | gnomAD v4 |
13 | g.51937512A>C | CA388021549 | ATP7B | c.*1517T>G (n.*1517T>G) c.*2611T>G (n.*2611T>G) c.3246T>G (p.Asp1082Glu) c.3867T>G (p.Asp1289Glu) c.3534T>G (p.Asp1178Glu) c.3615T>G (p.Asp1205Glu) n.1108T>G c.3633T>G (p.Asp1211Glu) n.4006T>G n.733T>G c.2802T>G (p.Asp934Glu) c.2577T>G (p.Asp859Glu) c.3672T>G (p.Asp1224Glu) c.1645T>G c.*968T>G (n.*968T>G) n.4611T>G n.3212T>G c.3723T>G (p.Asp1241Glu) c.3771T>G (p.Asp1257Glu) c.3831T>G (p.Asp1277Glu) c.3381T>G (p.Asp1127Glu) c.1683T>G (p.Asp561Glu) c.1500T>G (p.Asp500Glu) c.3732T>G (p.Asp1244Glu) c.3684T>G (p.Asp1228Glu) c.3453T>G (p.Asp1151Glu) c.3354T>G (p.Asp1118Glu) c.2535T>G (p.Asp845Glu) n.4086T>G | |
13 | g.51937512A>G | CA484024290 | ATP7B | c.*1517T>C (n.*1517T>C) c.*2611T>C (n.*2611T>C) c.3246T>C (p.Asp1082=) c.3867T>C (p.Asp1289=) c.3534T>C (p.Asp1178=) c.3615T>C (p.Asp1205=) n.1108T>C c.3633T>C (p.Asp1211=) n.4006T>C n.733T>C c.2802T>C (p.Asp934=) c.2577T>C (p.Asp859=) c.3672T>C (p.Asp1224=) c.1645T>C c.*968T>C (n.*968T>C) n.4611T>C n.3212T>C c.3723T>C (p.Asp1241=) c.3771T>C (p.Asp1257=) c.3831T>C (p.Asp1277=) c.3381T>C (p.Asp1127=) c.1683T>C (p.Asp561=) c.1500T>C (p.Asp500=) c.3732T>C (p.Asp1244=) c.3684T>C (p.Asp1228=) c.3453T>C (p.Asp1151=) c.3354T>C (p.Asp1118=) c.2535T>C (p.Asp845=) n.4086T>C | dbSNP |
13 | g.51937512A>T | CA388021550 | ATP7B | c.*1517T>A (n.*1517T>A) c.*2611T>A (n.*2611T>A) c.3246T>A (p.Asp1082Glu) c.3867T>A (p.Asp1289Glu) c.3534T>A (p.Asp1178Glu) c.3615T>A (p.Asp1205Glu) n.1108T>A c.3633T>A (p.Asp1211Glu) n.4006T>A n.733T>A c.2802T>A (p.Asp934Glu) c.2577T>A (p.Asp859Glu) c.3672T>A (p.Asp1224Glu) c.1645T>A c.*968T>A (n.*968T>A) n.4611T>A n.3212T>A c.3723T>A (p.Asp1241Glu) c.3771T>A (p.Asp1257Glu) c.3831T>A (p.Asp1277Glu) c.3381T>A (p.Asp1127Glu) c.1683T>A (p.Asp561Glu) c.1500T>A (p.Asp500Glu) c.3732T>A (p.Asp1244Glu) c.3684T>A (p.Asp1228Glu) c.3453T>A (p.Asp1151Glu) c.3354T>A (p.Asp1118Glu) c.2535T>A (p.Asp845Glu) n.4086T>A | gnomAD v4 |
13 | g.51937513T>A | CA388021551 | ATP7B | c.*1516A>T (n.*1516A>T) c.*2610A>T (n.*2610A>T) c.3245A>T (p.Asp1082Val) c.3866A>T (p.Asp1289Val) c.3533A>T (p.Asp1178Val) c.3614A>T (p.Asp1205Val) n.1107A>T c.3632A>T (p.Asp1211Val) n.4005A>T n.732A>T c.2801A>T (p.Asp934Val) c.2576A>T (p.Asp859Val) c.3671A>T (p.Asp1224Val) c.1644A>T c.*967A>T (n.*967A>T) n.4610A>T n.3211A>T c.3722A>T (p.Asp1241Val) c.3770A>T (p.Asp1257Val) c.3830A>T (p.Asp1277Val) c.3380A>T (p.Asp1127Val) c.1682A>T (p.Asp561Val) c.1499A>T (p.Asp500Val) c.3731A>T (p.Asp1244Val) c.3683A>T (p.Asp1228Val) c.3452A>T (p.Asp1151Val) c.3353A>T (p.Asp1118Val) c.2534A>T (p.Asp845Val) n.4085A>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937513T>C | CA388021552 | ATP7B | c.*1516A>G (n.*1516A>G) c.*2610A>G (n.*2610A>G) c.3245A>G (p.Asp1082Gly) c.3866A>G (p.Asp1289Gly) c.3533A>G (p.Asp1178Gly) c.3614A>G (p.Asp1205Gly) n.1107A>G c.3632A>G (p.Asp1211Gly) n.4005A>G n.732A>G c.2801A>G (p.Asp934Gly) c.2576A>G (p.Asp859Gly) c.3671A>G (p.Asp1224Gly) c.1644A>G c.*967A>G (n.*967A>G) n.4610A>G n.3211A>G c.3722A>G (p.Asp1241Gly) c.3770A>G (p.Asp1257Gly) c.3830A>G (p.Asp1277Gly) c.3380A>G (p.Asp1127Gly) c.1682A>G (p.Asp561Gly) c.1499A>G (p.Asp500Gly) c.3731A>G (p.Asp1244Gly) c.3683A>G (p.Asp1228Gly) c.3452A>G (p.Asp1151Gly) c.3353A>G (p.Asp1118Gly) c.2534A>G (p.Asp845Gly) n.4085A>G | dbSNP gnomAD v4 |
13 | g.51937513T>G | CA388021553 | ATP7B | c.*1516A>C (n.*1516A>C) c.*2610A>C (n.*2610A>C) c.3245A>C (p.Asp1082Ala) c.3866A>C (p.Asp1289Ala) c.3533A>C (p.Asp1178Ala) c.3614A>C (p.Asp1205Ala) n.1107A>C c.3632A>C (p.Asp1211Ala) n.4005A>C n.732A>C c.2801A>C (p.Asp934Ala) c.2576A>C (p.Asp859Ala) c.3671A>C (p.Asp1224Ala) c.1644A>C c.*967A>C (n.*967A>C) n.4610A>C n.3211A>C c.3722A>C (p.Asp1241Ala) c.3770A>C (p.Asp1257Ala) c.3830A>C (p.Asp1277Ala) c.3380A>C (p.Asp1127Ala) c.1682A>C (p.Asp561Ala) c.1499A>C (p.Asp500Ala) c.3731A>C (p.Asp1244Ala) c.3683A>C (p.Asp1228Ala) c.3452A>C (p.Asp1151Ala) c.3353A>C (p.Asp1118Ala) c.2534A>C (p.Asp845Ala) n.4085A>C | |
13 | g.51937513T= | CA2091553817 | ATP7B | c.*1516A= (n.*1516A=) c.*2610A= (n.*2610A=) c.3245A= (p.Asp1082=) c.3866A= (p.Asp1289=) c.3533A= (p.Asp1178=) c.3614A= (p.Asp1205=) n.1107A= c.3632A= (p.Asp1211=) n.4005A= n.732A= c.2801A= (p.Asp934=) c.2576A= (p.Asp859=) c.3671A= (p.Asp1224=) c.1644A= c.*967A= (n.*967A=) n.4610A= n.3211A= c.3722A= (p.Asp1241=) c.3770A= (p.Asp1257=) c.3830A= (p.Asp1277=) c.3380A= (p.Asp1127=) c.1682A= (p.Asp561=) c.1499A= (p.Asp500=) c.3731A= (p.Asp1244=) c.3683A= (p.Asp1228=) c.3452A= (p.Asp1151=) c.3353A= (p.Asp1118=) c.2534A= (p.Asp845=) n.4085A= | |
13 | g.51937514C>A | CA388021555 | ATP7B | c.*1515G>T (n.*1515G>T) c.*2609G>T (n.*2609G>T) c.3244G>T (p.Asp1082Tyr) c.3865G>T (p.Asp1289Tyr) c.3532G>T (p.Asp1178Tyr) c.3613G>T (p.Asp1205Tyr) n.1106G>T c.3631G>T (p.Asp1211Tyr) n.4004G>T n.731G>T c.2800G>T (p.Asp934Tyr) c.2575G>T (p.Asp859Tyr) c.3670G>T (p.Asp1224Tyr) c.1643G>T c.*966G>T (n.*966G>T) n.4609G>T n.3210G>T c.3721G>T (p.Asp1241Tyr) c.3769G>T (p.Asp1257Tyr) c.3829G>T (p.Asp1277Tyr) c.3379G>T (p.Asp1127Tyr) c.1681G>T (p.Asp561Tyr) c.1498G>T (p.Asp500Tyr) c.3730G>T (p.Asp1244Tyr) c.3682G>T (p.Asp1228Tyr) c.3451G>T (p.Asp1151Tyr) c.3352G>T (p.Asp1118Tyr) c.2533G>T (p.Asp845Tyr) n.4084G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937514C>G | CA388021557 | ATP7B | c.*1515G>C (n.*1515G>C) c.*2609G>C (n.*2609G>C) c.3244G>C (p.Asp1082His) c.3865G>C (p.Asp1289His) c.3532G>C (p.Asp1178His) c.3613G>C (p.Asp1205His) n.1106G>C c.3631G>C (p.Asp1211His) n.4004G>C n.731G>C c.2800G>C (p.Asp934His) c.2575G>C (p.Asp859His) c.3670G>C (p.Asp1224His) c.1643G>C c.*966G>C (n.*966G>C) n.4609G>C n.3210G>C c.3721G>C (p.Asp1241His) c.3769G>C (p.Asp1257His) c.3829G>C (p.Asp1277His) c.3379G>C (p.Asp1127His) c.1681G>C (p.Asp561His) c.1498G>C (p.Asp500His) c.3730G>C (p.Asp1244His) c.3682G>C (p.Asp1228His) c.3451G>C (p.Asp1151His) c.3352G>C (p.Asp1118His) c.2533G>C (p.Asp845His) n.4084G>C | |
13 | g.51937514C>T | CA388021560 | ATP7B | c.*1515G>A (n.*1515G>A) c.*2609G>A (n.*2609G>A) c.3244G>A (p.Asp1082Asn) c.3865G>A (p.Asp1289Asn) c.3532G>A (p.Asp1178Asn) c.3613G>A (p.Asp1205Asn) n.1106G>A c.3631G>A (p.Asp1211Asn) n.4004G>A n.731G>A c.2800G>A (p.Asp934Asn) c.2575G>A (p.Asp859Asn) c.3670G>A (p.Asp1224Asn) c.1643G>A c.*966G>A (n.*966G>A) n.4609G>A n.3210G>A c.3721G>A (p.Asp1241Asn) c.3769G>A (p.Asp1257Asn) c.3829G>A (p.Asp1277Asn) c.3379G>A (p.Asp1127Asn) c.1681G>A (p.Asp561Asn) c.1498G>A (p.Asp500Asn) c.3730G>A (p.Asp1244Asn) c.3682G>A (p.Asp1228Asn) c.3451G>A (p.Asp1151Asn) c.3352G>A (p.Asp1118Asn) c.2533G>A (p.Asp845Asn) n.4084G>A | |
13 | g.51937515C>A | CA484024291 | ATP7B | c.*1514G>T (n.*1514G>T) c.*2608G>T (n.*2608G>T) c.3243G>T (p.Thr1081=) c.3864G>T (p.Thr1288=) c.3531G>T (p.Thr1177=) c.3612G>T (p.Thr1204=) n.1105G>T c.3630G>T (p.Thr1210=) n.4003G>T n.730G>T c.2799G>T (p.Thr933=) c.2574G>T (p.Thr858=) c.3669G>T (p.Thr1223=) c.1642G>T c.*965G>T (n.*965G>T) n.4608G>T n.3209G>T c.3720G>T (p.Thr1240=) c.3768G>T (p.Thr1256=) c.3828G>T (p.Thr1276=) c.3378G>T (p.Thr1126=) c.1680G>T (p.Thr560=) c.1497G>T (p.Thr499=) c.3729G>T (p.Thr1243=) c.3681G>T (p.Thr1227=) c.3450G>T (p.Thr1150=) c.3351G>T (p.Thr1117=) c.2532G>T (p.Thr844=) n.4083G>T | |
13 | g.51937515C= | CA2091553822 | ATP7B | c.*1514G= (n.*1514G=) c.*2608G= (n.*2608G=) c.3243G= (p.Thr1081=) c.3864G= (p.Thr1288=) c.3531G= (p.Thr1177=) c.3612G= (p.Thr1204=) n.1105G= c.3630G= (p.Thr1210=) n.4003G= n.730G= c.2799G= (p.Thr933=) c.2574G= (p.Thr858=) c.3669G= (p.Thr1223=) c.1642G= c.*965G= (n.*965G=) n.4608G= n.3209G= c.3720G= (p.Thr1240=) c.3768G= (p.Thr1256=) c.3828G= (p.Thr1276=) c.3378G= (p.Thr1126=) c.1680G= (p.Thr560=) c.1497G= (p.Thr499=) c.3729G= (p.Thr1243=) c.3681G= (p.Thr1227=) c.3450G= (p.Thr1150=) c.3351G= (p.Thr1117=) c.2532G= (p.Thr844=) n.4083G= | |
13 | g.51937515C>G | CA484024292 | ATP7B | c.*1514G>C (n.*1514G>C) c.*2608G>C (n.*2608G>C) c.3243G>C (p.Thr1081=) c.3864G>C (p.Thr1288=) c.3531G>C (p.Thr1177=) c.3612G>C (p.Thr1204=) n.1105G>C c.3630G>C (p.Thr1210=) n.4003G>C n.730G>C c.2799G>C (p.Thr933=) c.2574G>C (p.Thr858=) c.3669G>C (p.Thr1223=) c.1642G>C c.*965G>C (n.*965G>C) n.4608G>C n.3209G>C c.3720G>C (p.Thr1240=) c.3768G>C (p.Thr1256=) c.3828G>C (p.Thr1276=) c.3378G>C (p.Thr1126=) c.1680G>C (p.Thr560=) c.1497G>C (p.Thr499=) c.3729G>C (p.Thr1243=) c.3681G>C (p.Thr1227=) c.3450G>C (p.Thr1150=) c.3351G>C (p.Thr1117=) c.2532G>C (p.Thr844=) n.4083G>C | |
13 | g.51937515C>T | CA6988554 | ATP7B | c.*1514G>A (n.*1514G>A) c.*2608G>A (n.*2608G>A) c.3243G>A (p.Thr1081=) c.3864G>A (p.Thr1288=) c.3531G>A (p.Thr1177=) c.3612G>A (p.Thr1204=) n.1105G>A c.3630G>A (p.Thr1210=) n.4003G>A n.730G>A c.2799G>A (p.Thr933=) c.2574G>A (p.Thr858=) c.3669G>A (p.Thr1223=) c.1642G>A c.*965G>A (n.*965G>A) n.4608G>A n.3209G>A c.3720G>A (p.Thr1240=) c.3768G>A (p.Thr1256=) c.3828G>A (p.Thr1276=) c.3378G>A (p.Thr1126=) c.1680G>A (p.Thr560=) c.1497G>A (p.Thr499=) c.3729G>A (p.Thr1243=) c.3681G>A (p.Thr1227=) c.3450G>A (p.Thr1150=) c.3351G>A (p.Thr1117=) c.2532G>A (p.Thr844=) n.4083G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51937516G>A | CA6988555 | ATP7B | c.*1513C>T (n.*1513C>T) c.*2607C>T (n.*2607C>T) c.3242C>T (p.Thr1081Met) c.3863C>T (p.Thr1288Met) c.3530C>T (p.Thr1177Met) c.3611C>T (p.Thr1204Met) n.1104C>T c.3629C>T (p.Thr1210Met) n.4002C>T n.729C>T c.2798C>T (p.Thr933Met) c.2573C>T (p.Thr858Met) c.3668C>T (p.Thr1223Met) c.1641C>T c.*964C>T (n.*964C>T) n.4607C>T n.3208C>T c.3719C>T (p.Thr1240Met) c.3767C>T (p.Thr1256Met) c.3827C>T (p.Thr1276Met) c.3377C>T (p.Thr1126Met) c.1679C>T (p.Thr560Met) c.1496C>T (p.Thr499Met) c.3728C>T (p.Thr1243Met) c.3680C>T (p.Thr1227Met) c.3449C>T (p.Thr1150Met) c.3350C>T (p.Thr1117Met) c.2531C>T (p.Thr844Met) n.4082C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937516G>C | CA388021569 | ATP7B | c.*1513C>G (n.*1513C>G) c.*2607C>G (n.*2607C>G) c.3242C>G (p.Thr1081Arg) c.3863C>G (p.Thr1288Arg) c.3530C>G (p.Thr1177Arg) c.3611C>G (p.Thr1204Arg) n.1104C>G c.3629C>G (p.Thr1210Arg) n.4002C>G n.729C>G c.2798C>G (p.Thr933Arg) c.2573C>G (p.Thr858Arg) c.3668C>G (p.Thr1223Arg) c.1641C>G c.*964C>G (n.*964C>G) n.4607C>G n.3208C>G c.3719C>G (p.Thr1240Arg) c.3767C>G (p.Thr1256Arg) c.3827C>G (p.Thr1276Arg) c.3377C>G (p.Thr1126Arg) c.1679C>G (p.Thr560Arg) c.1496C>G (p.Thr499Arg) c.3728C>G (p.Thr1243Arg) c.3680C>G (p.Thr1227Arg) c.3449C>G (p.Thr1150Arg) c.3350C>G (p.Thr1117Arg) c.2531C>G (p.Thr844Arg) n.4082C>G | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.51937516G= | CA2091553829 | ATP7B | c.*1513C= (n.*1513C=) c.*2607C= (n.*2607C=) c.3242C= (p.Thr1081=) c.3863C= (p.Thr1288=) c.3530C= (p.Thr1177=) c.3611C= (p.Thr1204=) n.1104C= c.3629C= (p.Thr1210=) n.4002C= n.729C= c.2798C= (p.Thr933=) c.2573C= (p.Thr858=) c.3668C= (p.Thr1223=) c.1641C= c.*964C= (n.*964C=) n.4607C= n.3208C= c.3719C= (p.Thr1240=) c.3767C= (p.Thr1256=) c.3827C= (p.Thr1276=) c.3377C= (p.Thr1126=) c.1679C= (p.Thr560=) c.1496C= (p.Thr499=) c.3728C= (p.Thr1243=) c.3680C= (p.Thr1227=) c.3449C= (p.Thr1150=) c.3350C= (p.Thr1117=) c.2531C= (p.Thr844=) n.4082C= | |
13 | g.51937516G>T | CA388021571 | ATP7B | c.*1513C>A (n.*1513C>A) c.*2607C>A (n.*2607C>A) c.3242C>A (p.Thr1081Lys) c.3863C>A (p.Thr1288Lys) c.3530C>A (p.Thr1177Lys) c.3611C>A (p.Thr1204Lys) n.1104C>A c.3629C>A (p.Thr1210Lys) n.4002C>A n.729C>A c.2798C>A (p.Thr933Lys) c.2573C>A (p.Thr858Lys) c.3668C>A (p.Thr1223Lys) c.1641C>A c.*964C>A (n.*964C>A) n.4607C>A n.3208C>A c.3719C>A (p.Thr1240Lys) c.3767C>A (p.Thr1256Lys) c.3827C>A (p.Thr1276Lys) c.3377C>A (p.Thr1126Lys) c.1679C>A (p.Thr560Lys) c.1496C>A (p.Thr499Lys) c.3728C>A (p.Thr1243Lys) c.3680C>A (p.Thr1227Lys) c.3449C>A (p.Thr1150Lys) c.3350C>A (p.Thr1117Lys) c.2531C>A (p.Thr844Lys) n.4082C>A | |
13 | g.51937517T>A | CA388021575 | ATP7B | c.*1512A>T (n.*1512A>T) c.*2606A>T (n.*2606A>T) c.3241A>T (p.Thr1081Ser) c.3862A>T (p.Thr1288Ser) c.3529A>T (p.Thr1177Ser) c.3610A>T (p.Thr1204Ser) n.1103A>T c.3628A>T (p.Thr1210Ser) n.4001A>T n.728A>T c.2797A>T (p.Thr933Ser) c.2572A>T (p.Thr858Ser) c.3667A>T (p.Thr1223Ser) c.1640A>T c.*963A>T (n.*963A>T) n.4606A>T n.3207A>T c.3718A>T (p.Thr1240Ser) c.3766A>T (p.Thr1256Ser) c.3826A>T (p.Thr1276Ser) c.3376A>T (p.Thr1126Ser) c.1678A>T (p.Thr560Ser) c.1495A>T (p.Thr499Ser) c.3727A>T (p.Thr1243Ser) c.3679A>T (p.Thr1227Ser) c.3448A>T (p.Thr1150Ser) c.3349A>T (p.Thr1117Ser) c.2530A>T (p.Thr844Ser) n.4081A>T | |
13 | g.51937517T>C | CA388021578 | ATP7B | c.*1512A>G (n.*1512A>G) c.*2606A>G (n.*2606A>G) c.3241A>G (p.Thr1081Ala) c.3862A>G (p.Thr1288Ala) c.3529A>G (p.Thr1177Ala) c.3610A>G (p.Thr1204Ala) n.1103A>G c.3628A>G (p.Thr1210Ala) n.4001A>G n.728A>G c.2797A>G (p.Thr933Ala) c.2572A>G (p.Thr858Ala) c.3667A>G (p.Thr1223Ala) c.1640A>G c.*963A>G (n.*963A>G) n.4606A>G n.3207A>G c.3718A>G (p.Thr1240Ala) c.3766A>G (p.Thr1256Ala) c.3826A>G (p.Thr1276Ala) c.3376A>G (p.Thr1126Ala) c.1678A>G (p.Thr560Ala) c.1495A>G (p.Thr499Ala) c.3727A>G (p.Thr1243Ala) c.3679A>G (p.Thr1227Ala) c.3448A>G (p.Thr1150Ala) c.3349A>G (p.Thr1117Ala) c.2530A>G (p.Thr844Ala) n.4081A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937517T>G | CA388021577 | ATP7B | c.*1512A>C (n.*1512A>C) c.*2606A>C (n.*2606A>C) c.3241A>C (p.Thr1081Pro) c.3862A>C (p.Thr1288Pro) c.3529A>C (p.Thr1177Pro) c.3610A>C (p.Thr1204Pro) n.1103A>C c.3628A>C (p.Thr1210Pro) n.4001A>C n.728A>C c.2797A>C (p.Thr933Pro) c.2572A>C (p.Thr858Pro) c.3667A>C (p.Thr1223Pro) c.1640A>C c.*963A>C (n.*963A>C) n.4606A>C n.3207A>C c.3718A>C (p.Thr1240Pro) c.3766A>C (p.Thr1256Pro) c.3826A>C (p.Thr1276Pro) c.3376A>C (p.Thr1126Pro) c.1678A>C (p.Thr560Pro) c.1495A>C (p.Thr499Pro) c.3727A>C (p.Thr1243Pro) c.3679A>C (p.Thr1227Pro) c.3448A>C (p.Thr1150Pro) c.3349A>C (p.Thr1117Pro) c.2530A>C (p.Thr844Pro) n.4081A>C | ClinVar dbSNP |
13 | g.51937517T= | CA2091553842 | ATP7B | c.*1512A= (n.*1512A=) c.*2606A= (n.*2606A=) c.3241A= (p.Thr1081=) c.3862A= (p.Thr1288=) c.3529A= (p.Thr1177=) c.3610A= (p.Thr1204=) n.1103A= c.3628A= (p.Thr1210=) n.4001A= n.728A= c.2797A= (p.Thr933=) c.2572A= (p.Thr858=) c.3667A= (p.Thr1223=) c.1640A= c.*963A= (n.*963A=) n.4606A= n.3207A= c.3718A= (p.Thr1240=) c.3766A= (p.Thr1256=) c.3826A= (p.Thr1276=) c.3376A= (p.Thr1126=) c.1678A= (p.Thr560=) c.1495A= (p.Thr499=) c.3727A= (p.Thr1243=) c.3679A= (p.Thr1227=) c.3448A= (p.Thr1150=) c.3349A= (p.Thr1117=) c.2530A= (p.Thr844=) n.4081A= | |
13 | g.51937521_51937548dup | CA2573149695 | ATP7B | c.*1485_*1512dup (n.*1485_*1512dup) c.*2579_*2606dup (n.*2579_*2606dup) c.3214_3241dup (p.Thr1081ArgfsTer25) c.3835_3862dup (p.Thr1288ArgfsTer25) c.3502_3529dup (p.Thr1177ArgfsTer25) c.3583_3610dup (p.Thr1204ArgfsTer25) n.1076_1103dup c.3601_3628dup (p.Thr1210ArgfsTer25) n.3974_4001dup n.701_728dup c.2770_2797dup (p.Thr933ArgfsTer25) c.2545_2572dup (p.Thr858ArgfsTer25) c.3640_3667dup (p.Thr1223ArgfsTer25) c.1613_1640dup c.*936_*963dup (n.*936_*963dup) n.4579_4606dup n.3180_3207dup c.3691_3718dup (p.Thr1240ArgfsTer25) c.3739_3766dup (p.Thr1256ArgfsTer25) c.3799_3826dup (p.Thr1276ArgfsTer25) c.3349_3376dup (p.Thr1126ArgfsTer25) c.1651_1678dup (p.Thr560ArgfsTer25) c.1468_1495dup (p.Thr499ArgfsTer25) c.3700_3727dup (p.Thr1243ArgfsTer25) c.3652_3679dup (p.Thr1227ArgfsTer25) c.3421_3448dup (p.Thr1150ArgfsTer25) c.3322_3349dup (p.Thr1117ArgfsTer25) c.2503_2530dup (p.Thr844ArgfsTer25) n.4054_4081dup | ClinVar dbSNP |
13 | g.51937518G>A | CA484024293 | ATP7B | c.*1511C>T (n.*1511C>T) c.*2605C>T (n.*2605C>T) c.3240C>T (p.Gly1080=) c.3861C>T (p.Gly1287=) c.3528C>T (p.Gly1176=) c.3609C>T (p.Gly1203=) n.1102C>T c.3627C>T (p.Gly1209=) n.4000C>T n.727C>T c.2796C>T (p.Gly932=) c.2571C>T (p.Gly857=) c.3666C>T (p.Gly1222=) c.1639C>T c.*962C>T (n.*962C>T) n.4605C>T n.3206C>T c.3717C>T (p.Gly1239=) c.3765C>T (p.Gly1255=) c.3825C>T (p.Gly1275=) c.3375C>T (p.Gly1125=) c.1677C>T (p.Gly559=) c.1494C>T (p.Gly498=) c.3726C>T (p.Gly1242=) c.3678C>T (p.Gly1226=) c.3447C>T (p.Gly1149=) c.3348C>T (p.Gly1116=) c.2529C>T (p.Gly843=) n.4080C>T | |
13 | g.51937518G>C | CA484024294 | ATP7B | c.*1511C>G (n.*1511C>G) c.*2605C>G (n.*2605C>G) c.3240C>G (p.Gly1080=) c.3861C>G (p.Gly1287=) c.3528C>G (p.Gly1176=) c.3609C>G (p.Gly1203=) n.1102C>G c.3627C>G (p.Gly1209=) n.4000C>G n.727C>G c.2796C>G (p.Gly932=) c.2571C>G (p.Gly857=) c.3666C>G (p.Gly1222=) c.1639C>G c.*962C>G (n.*962C>G) n.4605C>G n.3206C>G c.3717C>G (p.Gly1239=) c.3765C>G (p.Gly1255=) c.3825C>G (p.Gly1275=) c.3375C>G (p.Gly1125=) c.1677C>G (p.Gly559=) c.1494C>G (p.Gly498=) c.3726C>G (p.Gly1242=) c.3678C>G (p.Gly1226=) c.3447C>G (p.Gly1149=) c.3348C>G (p.Gly1116=) c.2529C>G (p.Gly843=) n.4080C>G | |
13 | g.51937518G>T | CA484024295 | ATP7B | c.*1511C>A (n.*1511C>A) c.*2605C>A (n.*2605C>A) c.3240C>A (p.Gly1080=) c.3861C>A (p.Gly1287=) c.3528C>A (p.Gly1176=) c.3609C>A (p.Gly1203=) n.1102C>A c.3627C>A (p.Gly1209=) n.4000C>A n.727C>A c.2796C>A (p.Gly932=) c.2571C>A (p.Gly857=) c.3666C>A (p.Gly1222=) c.1639C>A c.*962C>A (n.*962C>A) n.4605C>A n.3206C>A c.3717C>A (p.Gly1239=) c.3765C>A (p.Gly1255=) c.3825C>A (p.Gly1275=) c.3375C>A (p.Gly1125=) c.1677C>A (p.Gly559=) c.1494C>A (p.Gly498=) c.3726C>A (p.Gly1242=) c.3678C>A (p.Gly1226=) c.3447C>A (p.Gly1149=) c.3348C>A (p.Gly1116=) c.2529C>A (p.Gly843=) n.4080C>A | |
13 | g.51937519C>A | CA388021580 | ATP7B | c.*1510G>T (n.*1510G>T) c.*2604G>T (n.*2604G>T) c.3239G>T (p.Gly1080Val) c.3860G>T (p.Gly1287Val) c.3527G>T (p.Gly1176Val) c.3608G>T (p.Gly1203Val) n.1101G>T c.3626G>T (p.Gly1209Val) n.3999G>T n.726G>T c.2795G>T (p.Gly932Val) c.2570G>T (p.Gly857Val) c.3665G>T (p.Gly1222Val) c.1638G>T c.*961G>T (n.*961G>T) n.4604G>T n.3205G>T c.3716G>T (p.Gly1239Val) c.3764G>T (p.Gly1255Val) c.3824G>T (p.Gly1275Val) c.3374G>T (p.Gly1125Val) c.1676G>T (p.Gly559Val) c.1493G>T (p.Gly498Val) c.3725G>T (p.Gly1242Val) c.3677G>T (p.Gly1226Val) c.3446G>T (p.Gly1149Val) c.3347G>T (p.Gly1116Val) c.2528G>T (p.Gly843Val) n.4079G>T | |
13 | g.51937519C>G | CA388021583 | ATP7B | c.*1510G>C (n.*1510G>C) c.*2604G>C (n.*2604G>C) c.3239G>C (p.Gly1080Ala) c.3860G>C (p.Gly1287Ala) c.3527G>C (p.Gly1176Ala) c.3608G>C (p.Gly1203Ala) n.1101G>C c.3626G>C (p.Gly1209Ala) n.3999G>C n.726G>C c.2795G>C (p.Gly932Ala) c.2570G>C (p.Gly857Ala) c.3665G>C (p.Gly1222Ala) c.1638G>C c.*961G>C (n.*961G>C) n.4604G>C n.3205G>C c.3716G>C (p.Gly1239Ala) c.3764G>C (p.Gly1255Ala) c.3824G>C (p.Gly1275Ala) c.3374G>C (p.Gly1125Ala) c.1676G>C (p.Gly559Ala) c.1493G>C (p.Gly498Ala) c.3725G>C (p.Gly1242Ala) c.3677G>C (p.Gly1226Ala) c.3446G>C (p.Gly1149Ala) c.3347G>C (p.Gly1116Ala) c.2528G>C (p.Gly843Ala) n.4079G>C | |
13 | g.51937519C>T | CA388021586 | ATP7B | c.*1510G>A (n.*1510G>A) c.*2604G>A (n.*2604G>A) c.3239G>A (p.Gly1080Asp) c.3860G>A (p.Gly1287Asp) c.3527G>A (p.Gly1176Asp) c.3608G>A (p.Gly1203Asp) n.1101G>A c.3626G>A (p.Gly1209Asp) n.3999G>A n.726G>A c.2795G>A (p.Gly932Asp) c.2570G>A (p.Gly857Asp) c.3665G>A (p.Gly1222Asp) c.1638G>A c.*961G>A (n.*961G>A) n.4604G>A n.3205G>A c.3716G>A (p.Gly1239Asp) c.3764G>A (p.Gly1255Asp) c.3824G>A (p.Gly1275Asp) c.3374G>A (p.Gly1125Asp) c.1676G>A (p.Gly559Asp) c.1493G>A (p.Gly498Asp) c.3725G>A (p.Gly1242Asp) c.3677G>A (p.Gly1226Asp) c.3446G>A (p.Gly1149Asp) c.3347G>A (p.Gly1116Asp) c.2528G>A (p.Gly843Asp) n.4079G>A | ClinVar dbSNP |
13 | g.51937520C>A | CA388021590 | ATP7B | c.*1509G>T (n.*1509G>T) c.*2603G>T (n.*2603G>T) c.3238G>T (p.Gly1080Cys) c.3859G>T (p.Gly1287Cys) c.3526G>T (p.Gly1176Cys) c.3607G>T (p.Gly1203Cys) n.1100G>T c.3625G>T (p.Gly1209Cys) n.3998G>T n.725G>T c.2794G>T (p.Gly932Cys) c.2569G>T (p.Gly857Cys) c.3664G>T (p.Gly1222Cys) c.1637G>T c.*960G>T (n.*960G>T) n.4603G>T n.3204G>T c.3715G>T (p.Gly1239Cys) c.3763G>T (p.Gly1255Cys) c.3823G>T (p.Gly1275Cys) c.3373G>T (p.Gly1125Cys) c.1675G>T (p.Gly559Cys) c.1492G>T (p.Gly498Cys) c.3724G>T (p.Gly1242Cys) c.3676G>T (p.Gly1226Cys) c.3445G>T (p.Gly1149Cys) c.3346G>T (p.Gly1116Cys) c.2527G>T (p.Gly843Cys) n.4078G>T | gnomAD v4 |
13 | g.51937520C= | CA2091553851 | ATP7B | c.*1509G= (n.*1509G=) c.*2603G= (n.*2603G=) c.3238G= (p.Gly1080=) c.3859G= (p.Gly1287=) c.3526G= (p.Gly1176=) c.3607G= (p.Gly1203=) n.1100G= c.3625G= (p.Gly1209=) n.3998G= n.725G= c.2794G= (p.Gly932=) c.2569G= (p.Gly857=) c.3664G= (p.Gly1222=) c.1637G= c.*960G= (n.*960G=) n.4603G= n.3204G= c.3715G= (p.Gly1239=) c.3763G= (p.Gly1255=) c.3823G= (p.Gly1275=) c.3373G= (p.Gly1125=) c.1675G= (p.Gly559=) c.1492G= (p.Gly498=) c.3724G= (p.Gly1242=) c.3676G= (p.Gly1226=) c.3445G= (p.Gly1149=) c.3346G= (p.Gly1116=) c.2527G= (p.Gly843=) n.4078G= | |
13 | g.51937520C>G | CA388021593 | ATP7B | c.*1509G>C (n.*1509G>C) c.*2603G>C (n.*2603G>C) c.3238G>C (p.Gly1080Arg) c.3859G>C (p.Gly1287Arg) c.3526G>C (p.Gly1176Arg) c.3607G>C (p.Gly1203Arg) n.1100G>C c.3625G>C (p.Gly1209Arg) n.3998G>C n.725G>C c.2794G>C (p.Gly932Arg) c.2569G>C (p.Gly857Arg) c.3664G>C (p.Gly1222Arg) c.1637G>C c.*960G>C (n.*960G>C) n.4603G>C n.3204G>C c.3715G>C (p.Gly1239Arg) c.3763G>C (p.Gly1255Arg) c.3823G>C (p.Gly1275Arg) c.3373G>C (p.Gly1125Arg) c.1675G>C (p.Gly559Arg) c.1492G>C (p.Gly498Arg) c.3724G>C (p.Gly1242Arg) c.3676G>C (p.Gly1226Arg) c.3445G>C (p.Gly1149Arg) c.3346G>C (p.Gly1116Arg) c.2527G>C (p.Gly843Arg) n.4078G>C | |
13 | g.51937520C>T | CA6988556 | ATP7B | c.*1509G>A (n.*1509G>A) c.*2603G>A (n.*2603G>A) c.3238G>A (p.Gly1080Ser) c.3859G>A (p.Gly1287Ser) c.3526G>A (p.Gly1176Ser) c.3607G>A (p.Gly1203Ser) n.1100G>A c.3625G>A (p.Gly1209Ser) n.3998G>A n.725G>A c.2794G>A (p.Gly932Ser) c.2569G>A (p.Gly857Ser) c.3664G>A (p.Gly1222Ser) c.1637G>A c.*960G>A (n.*960G>A) n.4603G>A n.3204G>A c.3715G>A (p.Gly1239Ser) c.3763G>A (p.Gly1255Ser) c.3823G>A (p.Gly1275Ser) c.3373G>A (p.Gly1125Ser) c.1675G>A (p.Gly559Ser) c.1492G>A (p.Gly498Ser) c.3724G>A (p.Gly1242Ser) c.3676G>A (p.Gly1226Ser) c.3445G>A (p.Gly1149Ser) c.3346G>A (p.Gly1116Ser) c.2527G>A (p.Gly843Ser) n.4078G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937520_51937521insAT | CA2551394110 | ATP7B | c.*1508_*1509insAT (n.*1508_*1509insAT) c.*2602_*2603insAT (n.*2602_*2603insAT) c.3237_3238insAT (p.Gly1080MetfsTer?) c.3858_3859insAT (p.Gly1287MetfsTer?) c.3525_3526insAT (p.Gly1176MetfsTer?) c.3606_3607insAT (p.Gly1203MetfsTer?) n.1099_1100insAT c.3624_3625insAT (p.Gly1209MetfsTer?) n.3997_3998insAT n.724_725insAT c.2793_2794insAT (p.Gly932MetfsTer?) c.2568_2569insAT (p.Gly857MetfsTer?) c.3663_3664insAT (p.Gly1222MetfsTer?) c.1636_1637insAT c.*959_*960insAT (n.*959_*960insAT) n.4602_4603insAT n.3203_3204insAT c.3714_3715insAT (p.Gly1239MetfsTer?) c.3762_3763insAT (p.Gly1255MetfsTer?) c.3822_3823insAT (p.Gly1275MetfsTer?) c.3372_3373insAT (p.Gly1125MetfsTer?) c.1674_1675insAT (p.Gly559MetfsTer?) c.1491_1492insAT (p.Gly498MetfsTer?) c.3723_3724insAT (p.Gly1242MetfsTer?) c.3675_3676insAT (p.Gly1226MetfsTer?) c.3444_3445insAT (p.Gly1149MetfsTer?) c.3345_3346insAT (p.Gly1116MetfsTer?) c.2526_2527insAT (p.Gly843MetfsTer?) n.4077_4078insAT | |
13 | g.51937521G>A | CA6988557 | ATP7B | c.*1508C>T (n.*1508C>T) c.*2602C>T (n.*2602C>T) c.3237C>T (p.Thr1079=) c.3858C>T (p.Thr1286=) c.3525C>T (p.Thr1175=) c.3606C>T (p.Thr1202=) n.1099C>T c.3624C>T (p.Thr1208=) n.3997C>T n.724C>T c.2793C>T (p.Thr931=) c.2568C>T (p.Thr856=) c.3663C>T (p.Thr1221=) c.1636C>T c.*959C>T (n.*959C>T) n.4602C>T n.3203C>T c.3714C>T (p.Thr1238=) c.3762C>T (p.Thr1254=) c.3822C>T (p.Thr1274=) c.3372C>T (p.Thr1124=) c.1674C>T (p.Thr558=) c.1491C>T (p.Thr497=) c.3723C>T (p.Thr1241=) c.3675C>T (p.Thr1225=) c.3444C>T (p.Thr1148=) c.3345C>T (p.Thr1115=) c.2526C>T (p.Thr842=) n.4077C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937521G>C | CA484024296 | ATP7B | c.*1508C>G (n.*1508C>G) c.*2602C>G (n.*2602C>G) c.3237C>G (p.Thr1079=) c.3858C>G (p.Thr1286=) c.3525C>G (p.Thr1175=) c.3606C>G (p.Thr1202=) n.1099C>G c.3624C>G (p.Thr1208=) n.3997C>G n.724C>G c.2793C>G (p.Thr931=) c.2568C>G (p.Thr856=) c.3663C>G (p.Thr1221=) c.1636C>G c.*959C>G (n.*959C>G) n.4602C>G n.3203C>G c.3714C>G (p.Thr1238=) c.3762C>G (p.Thr1254=) c.3822C>G (p.Thr1274=) c.3372C>G (p.Thr1124=) c.1674C>G (p.Thr558=) c.1491C>G (p.Thr497=) c.3723C>G (p.Thr1241=) c.3675C>G (p.Thr1225=) c.3444C>G (p.Thr1148=) c.3345C>G (p.Thr1115=) c.2526C>G (p.Thr842=) n.4077C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937521G= | CA2091553860 | ATP7B | c.*1508C= (n.*1508C=) c.*2602C= (n.*2602C=) c.3237C= (p.Thr1079=) c.3858C= (p.Thr1286=) c.3525C= (p.Thr1175=) c.3606C= (p.Thr1202=) n.1099C= c.3624C= (p.Thr1208=) n.3997C= n.724C= c.2793C= (p.Thr931=) c.2568C= (p.Thr856=) c.3663C= (p.Thr1221=) c.1636C= c.*959C= (n.*959C=) n.4602C= n.3203C= c.3714C= (p.Thr1238=) c.3762C= (p.Thr1254=) c.3822C= (p.Thr1274=) c.3372C= (p.Thr1124=) c.1674C= (p.Thr558=) c.1491C= (p.Thr497=) c.3723C= (p.Thr1241=) c.3675C= (p.Thr1225=) c.3444C= (p.Thr1148=) c.3345C= (p.Thr1115=) c.2526C= (p.Thr842=) n.4077C= | |
13 | g.51937521G>T | CA484024297 | ATP7B | c.*1508C>A (n.*1508C>A) c.*2602C>A (n.*2602C>A) c.3237C>A (p.Thr1079=) c.3858C>A (p.Thr1286=) c.3525C>A (p.Thr1175=) c.3606C>A (p.Thr1202=) n.1099C>A c.3624C>A (p.Thr1208=) n.3997C>A n.724C>A c.2793C>A (p.Thr931=) c.2568C>A (p.Thr856=) c.3663C>A (p.Thr1221=) c.1636C>A c.*959C>A (n.*959C>A) n.4602C>A n.3203C>A c.3714C>A (p.Thr1238=) c.3762C>A (p.Thr1254=) c.3822C>A (p.Thr1274=) c.3372C>A (p.Thr1124=) c.1674C>A (p.Thr558=) c.1491C>A (p.Thr497=) c.3723C>A (p.Thr1241=) c.3675C>A (p.Thr1225=) c.3444C>A (p.Thr1148=) c.3345C>A (p.Thr1115=) c.2526C>A (p.Thr842=) n.4077C>A | |
13 | g.51937522G>A | CA6988558 | ATP7B | c.*1507C>T (n.*1507C>T) c.*2601C>T (n.*2601C>T) c.3236C>T (p.Thr1079Ile) c.3857C>T (p.Thr1286Ile) c.3524C>T (p.Thr1175Ile) c.3605C>T (p.Thr1202Ile) n.1098C>T c.3623C>T (p.Thr1208Ile) n.3996C>T n.723C>T c.2792C>T (p.Thr931Ile) c.2567C>T (p.Thr856Ile) c.3662C>T (p.Thr1221Ile) c.1635C>T c.*958C>T (n.*958C>T) n.4601C>T n.3202C>T c.3713C>T (p.Thr1238Ile) c.3761C>T (p.Thr1254Ile) c.3821C>T (p.Thr1274Ile) c.3371C>T (p.Thr1124Ile) c.1673C>T (p.Thr558Ile) c.1490C>T (p.Thr497Ile) c.3722C>T (p.Thr1241Ile) c.3674C>T (p.Thr1225Ile) c.3443C>T (p.Thr1148Ile) c.3344C>T (p.Thr1115Ile) c.2525C>T (p.Thr842Ile) n.4076C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937522G>C | CA388021601 | ATP7B | c.*1507C>G (n.*1507C>G) c.*2601C>G (n.*2601C>G) c.3236C>G (p.Thr1079Ser) c.3857C>G (p.Thr1286Ser) c.3524C>G (p.Thr1175Ser) c.3605C>G (p.Thr1202Ser) n.1098C>G c.3623C>G (p.Thr1208Ser) n.3996C>G n.723C>G c.2792C>G (p.Thr931Ser) c.2567C>G (p.Thr856Ser) c.3662C>G (p.Thr1221Ser) c.1635C>G c.*958C>G (n.*958C>G) n.4601C>G n.3202C>G c.3713C>G (p.Thr1238Ser) c.3761C>G (p.Thr1254Ser) c.3821C>G (p.Thr1274Ser) c.3371C>G (p.Thr1124Ser) c.1673C>G (p.Thr558Ser) c.1490C>G (p.Thr497Ser) c.3722C>G (p.Thr1241Ser) c.3674C>G (p.Thr1225Ser) c.3443C>G (p.Thr1148Ser) c.3344C>G (p.Thr1115Ser) c.2525C>G (p.Thr842Ser) n.4076C>G | |
13 | g.51937522G= | CA2091553865 | ATP7B | c.*1507C= (n.*1507C=) c.*2601C= (n.*2601C=) c.3236C= (p.Thr1079=) c.3857C= (p.Thr1286=) c.3524C= (p.Thr1175=) c.3605C= (p.Thr1202=) n.1098C= c.3623C= (p.Thr1208=) n.3996C= n.723C= c.2792C= (p.Thr931=) c.2567C= (p.Thr856=) c.3662C= (p.Thr1221=) c.1635C= c.*958C= (n.*958C=) n.4601C= n.3202C= c.3713C= (p.Thr1238=) c.3761C= (p.Thr1254=) c.3821C= (p.Thr1274=) c.3371C= (p.Thr1124=) c.1673C= (p.Thr558=) c.1490C= (p.Thr497=) c.3722C= (p.Thr1241=) c.3674C= (p.Thr1225=) c.3443C= (p.Thr1148=) c.3344C= (p.Thr1115=) c.2525C= (p.Thr842=) n.4076C= | |
13 | g.51937522G>T | CA388021608 | ATP7B | c.*1507C>A (n.*1507C>A) c.*2601C>A (n.*2601C>A) c.3236C>A (p.Thr1079Asn) c.3857C>A (p.Thr1286Asn) c.3524C>A (p.Thr1175Asn) c.3605C>A (p.Thr1202Asn) n.1098C>A c.3623C>A (p.Thr1208Asn) n.3996C>A n.723C>A c.2792C>A (p.Thr931Asn) c.2567C>A (p.Thr856Asn) c.3662C>A (p.Thr1221Asn) c.1635C>A c.*958C>A (n.*958C>A) n.4601C>A n.3202C>A c.3713C>A (p.Thr1238Asn) c.3761C>A (p.Thr1254Asn) c.3821C>A (p.Thr1274Asn) c.3371C>A (p.Thr1124Asn) c.1673C>A (p.Thr558Asn) c.1490C>A (p.Thr497Asn) c.3722C>A (p.Thr1241Asn) c.3674C>A (p.Thr1225Asn) c.3443C>A (p.Thr1148Asn) c.3344C>A (p.Thr1115Asn) c.2525C>A (p.Thr842Asn) n.4076C>A | |
13 | g.51937523T>A | CA388021616 | ATP7B | c.*1506A>T (n.*1506A>T) c.*2600A>T (n.*2600A>T) c.3235A>T (p.Thr1079Ser) c.3856A>T (p.Thr1286Ser) c.3523A>T (p.Thr1175Ser) c.3604A>T (p.Thr1202Ser) n.1097A>T c.3622A>T (p.Thr1208Ser) n.3995A>T n.722A>T c.2791A>T (p.Thr931Ser) c.2566A>T (p.Thr856Ser) c.3661A>T (p.Thr1221Ser) c.1634A>T c.*957A>T (n.*957A>T) n.4600A>T n.3201A>T c.3712A>T (p.Thr1238Ser) c.3760A>T (p.Thr1254Ser) c.3820A>T (p.Thr1274Ser) c.3370A>T (p.Thr1124Ser) c.1672A>T (p.Thr558Ser) c.1489A>T (p.Thr497Ser) c.3721A>T (p.Thr1241Ser) c.3673A>T (p.Thr1225Ser) c.3442A>T (p.Thr1148Ser) c.3343A>T (p.Thr1115Ser) c.2524A>T (p.Thr842Ser) n.4075A>T | |
13 | g.51937523T>C | CA388021619 | ATP7B | c.*1506A>G (n.*1506A>G) c.*2600A>G (n.*2600A>G) c.3235A>G (p.Thr1079Ala) c.3856A>G (p.Thr1286Ala) c.3523A>G (p.Thr1175Ala) c.3604A>G (p.Thr1202Ala) n.1097A>G c.3622A>G (p.Thr1208Ala) n.3995A>G n.722A>G c.2791A>G (p.Thr931Ala) c.2566A>G (p.Thr856Ala) c.3661A>G (p.Thr1221Ala) c.1634A>G c.*957A>G (n.*957A>G) n.4600A>G n.3201A>G c.3712A>G (p.Thr1238Ala) c.3760A>G (p.Thr1254Ala) c.3820A>G (p.Thr1274Ala) c.3370A>G (p.Thr1124Ala) c.1672A>G (p.Thr558Ala) c.1489A>G (p.Thr497Ala) c.3721A>G (p.Thr1241Ala) c.3673A>G (p.Thr1225Ala) c.3442A>G (p.Thr1148Ala) c.3343A>G (p.Thr1115Ala) c.2524A>G (p.Thr842Ala) n.4075A>G | gnomAD v4 |
13 | g.51937523T>G | CA388021612 | ATP7B | c.*1506A>C (n.*1506A>C) c.*2600A>C (n.*2600A>C) c.3235A>C (p.Thr1079Pro) c.3856A>C (p.Thr1286Pro) c.3523A>C (p.Thr1175Pro) c.3604A>C (p.Thr1202Pro) n.1097A>C c.3622A>C (p.Thr1208Pro) n.3995A>C n.722A>C c.2791A>C (p.Thr931Pro) c.2566A>C (p.Thr856Pro) c.3661A>C (p.Thr1221Pro) c.1634A>C c.*957A>C (n.*957A>C) n.4600A>C n.3201A>C c.3712A>C (p.Thr1238Pro) c.3760A>C (p.Thr1254Pro) c.3820A>C (p.Thr1274Pro) c.3370A>C (p.Thr1124Pro) c.1672A>C (p.Thr558Pro) c.1489A>C (p.Thr497Pro) c.3721A>C (p.Thr1241Pro) c.3673A>C (p.Thr1225Pro) c.3442A>C (p.Thr1148Pro) c.3343A>C (p.Thr1115Pro) c.2524A>C (p.Thr842Pro) n.4075A>C | |
13 | g.51937524G>A | CA484024298 | ATP7B | c.*1505C>T (n.*1505C>T) c.*2599C>T (n.*2599C>T) c.3234C>T (p.Gly1078=) c.3855C>T (p.Gly1285=) c.3522C>T (p.Gly1174=) c.3603C>T (p.Gly1201=) n.1096C>T c.3621C>T (p.Gly1207=) n.3994C>T n.721C>T c.2790C>T (p.Gly930=) c.2565C>T (p.Gly855=) c.3660C>T (p.Gly1220=) c.1633C>T c.*956C>T (n.*956C>T) n.4599C>T n.3200C>T c.3711C>T (p.Gly1237=) c.3759C>T (p.Gly1253=) c.3819C>T (p.Gly1273=) c.3369C>T (p.Gly1123=) c.1671C>T (p.Gly557=) c.1488C>T (p.Gly496=) c.3720C>T (p.Gly1240=) c.3672C>T (p.Gly1224=) c.3441C>T (p.Gly1147=) c.3342C>T (p.Gly1114=) c.2523C>T (p.Gly841=) n.4074C>T | |
13 | g.51937524G>C | CA484024299 | ATP7B | c.*1505C>G (n.*1505C>G) c.*2599C>G (n.*2599C>G) c.3234C>G (p.Gly1078=) c.3855C>G (p.Gly1285=) c.3522C>G (p.Gly1174=) c.3603C>G (p.Gly1201=) n.1096C>G c.3621C>G (p.Gly1207=) n.3994C>G n.721C>G c.2790C>G (p.Gly930=) c.2565C>G (p.Gly855=) c.3660C>G (p.Gly1220=) c.1633C>G c.*956C>G (n.*956C>G) n.4599C>G n.3200C>G c.3711C>G (p.Gly1237=) c.3759C>G (p.Gly1253=) c.3819C>G (p.Gly1273=) c.3369C>G (p.Gly1123=) c.1671C>G (p.Gly557=) c.1488C>G (p.Gly496=) c.3720C>G (p.Gly1240=) c.3672C>G (p.Gly1224=) c.3441C>G (p.Gly1147=) c.3342C>G (p.Gly1114=) c.2523C>G (p.Gly841=) n.4074C>G | |
13 | g.51937524G>T | CA484024300 | ATP7B | c.*1505C>A (n.*1505C>A) c.*2599C>A (n.*2599C>A) c.3234C>A (p.Gly1078=) c.3855C>A (p.Gly1285=) c.3522C>A (p.Gly1174=) c.3603C>A (p.Gly1201=) n.1096C>A c.3621C>A (p.Gly1207=) n.3994C>A n.721C>A c.2790C>A (p.Gly930=) c.2565C>A (p.Gly855=) c.3660C>A (p.Gly1220=) c.1633C>A c.*956C>A (n.*956C>A) n.4599C>A n.3200C>A c.3711C>A (p.Gly1237=) c.3759C>A (p.Gly1253=) c.3819C>A (p.Gly1273=) c.3369C>A (p.Gly1123=) c.1671C>A (p.Gly557=) c.1488C>A (p.Gly496=) c.3720C>A (p.Gly1240=) c.3672C>A (p.Gly1224=) c.3441C>A (p.Gly1147=) c.3342C>A (p.Gly1114=) c.2523C>A (p.Gly841=) n.4074C>A | |
13 | g.51937525C>A | CA388021621 | ATP7B | c.*1504G>T (n.*1504G>T) c.*2598G>T (n.*2598G>T) c.3233G>T (p.Gly1078Val) c.3854G>T (p.Gly1285Val) c.3521G>T (p.Gly1174Val) c.3602G>T (p.Gly1201Val) n.1095G>T c.3620G>T (p.Gly1207Val) n.3993G>T n.720G>T c.2789G>T (p.Gly930Val) c.2564G>T (p.Gly855Val) c.3659G>T (p.Gly1220Val) c.1632G>T c.*955G>T (n.*955G>T) n.4598G>T n.3199G>T c.3710G>T (p.Gly1237Val) c.3758G>T (p.Gly1253Val) c.3818G>T (p.Gly1273Val) c.3368G>T (p.Gly1123Val) c.1670G>T (p.Gly557Val) c.1487G>T (p.Gly496Val) c.3719G>T (p.Gly1240Val) c.3671G>T (p.Gly1224Val) c.3440G>T (p.Gly1147Val) c.3341G>T (p.Gly1114Val) c.2522G>T (p.Gly841Val) n.4073G>T | |
13 | g.51937525C>G | CA388021624 | ATP7B | c.*1504G>C (n.*1504G>C) c.*2598G>C (n.*2598G>C) c.3233G>C (p.Gly1078Ala) c.3854G>C (p.Gly1285Ala) c.3521G>C (p.Gly1174Ala) c.3602G>C (p.Gly1201Ala) n.1095G>C c.3620G>C (p.Gly1207Ala) n.3993G>C n.720G>C c.2789G>C (p.Gly930Ala) c.2564G>C (p.Gly855Ala) c.3659G>C (p.Gly1220Ala) c.1632G>C c.*955G>C (n.*955G>C) n.4598G>C n.3199G>C c.3710G>C (p.Gly1237Ala) c.3758G>C (p.Gly1253Ala) c.3818G>C (p.Gly1273Ala) c.3368G>C (p.Gly1123Ala) c.1670G>C (p.Gly557Ala) c.1487G>C (p.Gly496Ala) c.3719G>C (p.Gly1240Ala) c.3671G>C (p.Gly1224Ala) c.3440G>C (p.Gly1147Ala) c.3341G>C (p.Gly1114Ala) c.2522G>C (p.Gly841Ala) n.4073G>C | |
13 | g.51937525C>T | CA388021627 | ATP7B | c.*1504G>A (n.*1504G>A) c.*2598G>A (n.*2598G>A) c.3233G>A (p.Gly1078Asp) c.3854G>A (p.Gly1285Asp) c.3521G>A (p.Gly1174Asp) c.3602G>A (p.Gly1201Asp) n.1095G>A c.3620G>A (p.Gly1207Asp) n.3993G>A n.720G>A c.2789G>A (p.Gly930Asp) c.2564G>A (p.Gly855Asp) c.3659G>A (p.Gly1220Asp) c.1632G>A c.*955G>A (n.*955G>A) n.4598G>A n.3199G>A c.3710G>A (p.Gly1237Asp) c.3758G>A (p.Gly1253Asp) c.3818G>A (p.Gly1273Asp) c.3368G>A (p.Gly1123Asp) c.1670G>A (p.Gly557Asp) c.1487G>A (p.Gly496Asp) c.3719G>A (p.Gly1240Asp) c.3671G>A (p.Gly1224Asp) c.3440G>A (p.Gly1147Asp) c.3341G>A (p.Gly1114Asp) c.2522G>A (p.Gly841Asp) n.4073G>A | COSMIC |
13 | g.51937526C>A | CA388021629 | ATP7B | c.*1503G>T (n.*1503G>T) c.*2597G>T (n.*2597G>T) c.3232G>T (p.Gly1078Cys) c.3853G>T (p.Gly1285Cys) c.3520G>T (p.Gly1174Cys) c.3601G>T (p.Gly1201Cys) n.1094G>T c.3619G>T (p.Gly1207Cys) n.3992G>T n.719G>T c.2788G>T (p.Gly930Cys) c.2563G>T (p.Gly855Cys) c.3658G>T (p.Gly1220Cys) c.1631G>T c.*954G>T (n.*954G>T) n.4597G>T n.3198G>T c.3709G>T (p.Gly1237Cys) c.3757G>T (p.Gly1253Cys) c.3817G>T (p.Gly1273Cys) c.3367G>T (p.Gly1123Cys) c.1669G>T (p.Gly557Cys) c.1486G>T (p.Gly496Cys) c.3718G>T (p.Gly1240Cys) c.3670G>T (p.Gly1224Cys) c.3439G>T (p.Gly1147Cys) c.3340G>T (p.Gly1114Cys) c.2521G>T (p.Gly841Cys) n.4072G>T | |
13 | g.51937526C>G | CA388021632 | ATP7B | c.*1503G>C (n.*1503G>C) c.*2597G>C (n.*2597G>C) c.3232G>C (p.Gly1078Arg) c.3853G>C (p.Gly1285Arg) c.3520G>C (p.Gly1174Arg) c.3601G>C (p.Gly1201Arg) n.1094G>C c.3619G>C (p.Gly1207Arg) n.3992G>C n.719G>C c.2788G>C (p.Gly930Arg) c.2563G>C (p.Gly855Arg) c.3658G>C (p.Gly1220Arg) c.1631G>C c.*954G>C (n.*954G>C) n.4597G>C n.3198G>C c.3709G>C (p.Gly1237Arg) c.3757G>C (p.Gly1253Arg) c.3817G>C (p.Gly1273Arg) c.3367G>C (p.Gly1123Arg) c.1669G>C (p.Gly557Arg) c.1486G>C (p.Gly496Arg) c.3718G>C (p.Gly1240Arg) c.3670G>C (p.Gly1224Arg) c.3439G>C (p.Gly1147Arg) c.3340G>C (p.Gly1114Arg) c.2521G>C (p.Gly841Arg) n.4072G>C | |
13 | g.51937526C>T | CA388021641 | ATP7B | c.*1503G>A (n.*1503G>A) c.*2597G>A (n.*2597G>A) c.3232G>A (p.Gly1078Ser) c.3853G>A (p.Gly1285Ser) c.3520G>A (p.Gly1174Ser) c.3601G>A (p.Gly1201Ser) n.1094G>A c.3619G>A (p.Gly1207Ser) n.3992G>A n.719G>A c.2788G>A (p.Gly930Ser) c.2563G>A (p.Gly855Ser) c.3658G>A (p.Gly1220Ser) c.1631G>A c.*954G>A (n.*954G>A) n.4597G>A n.3198G>A c.3709G>A (p.Gly1237Ser) c.3757G>A (p.Gly1253Ser) c.3817G>A (p.Gly1273Ser) c.3367G>A (p.Gly1123Ser) c.1669G>A (p.Gly557Ser) c.1486G>A (p.Gly496Ser) c.3718G>A (p.Gly1240Ser) c.3670G>A (p.Gly1224Ser) c.3439G>A (p.Gly1147Ser) c.3340G>A (p.Gly1114Ser) c.2521G>A (p.Gly841Ser) n.4072G>A | |
13 | g.51937526_51937527del | CA2549490553 | ATP7B | c.*1502_*1503del (n.*1502_*1503del) c.*2596_*2597del (n.*2596_*2597del) c.3231_3232del (p.Ile1077MetfsTer19) c.3852_3853del (p.Ile1284MetfsTer19) c.3519_3520del (p.Ile1173MetfsTer19) c.3600_3601del (p.Ile1200MetfsTer19) n.1093_1094del c.3618_3619del (p.Ile1206MetfsTer19) n.3991_3992del n.718_719del c.2787_2788del (p.Ile929MetfsTer19) c.2562_2563del (p.Ile854MetfsTer19) c.3657_3658del (p.Ile1219MetfsTer19) c.1630_1631del c.*953_*954del (n.*953_*954del) n.4596_4597del n.3197_3198del c.3708_3709del (p.Ile1236MetfsTer19) c.3756_3757del (p.Ile1252MetfsTer19) c.3816_3817del (p.Ile1272MetfsTer19) c.3366_3367del (p.Ile1122MetfsTer19) c.1668_1669del (p.Ile556MetfsTer19) c.1485_1486del (p.Ile495MetfsTer19) c.3717_3718del (p.Ile1239MetfsTer19) c.3669_3670del (p.Ile1223MetfsTer19) c.3438_3439del (p.Ile1146MetfsTer19) c.3339_3340del (p.Ile1113MetfsTer19) c.2520_2521del (p.Ile840MetfsTer19) n.4071_4072del | |
13 | g.51937527A= | CA2091553869 | ATP7B | c.*1502T= (n.*1502T=) c.*2596T= (n.*2596T=) c.3231T= (p.Ile1077=) c.3852T= (p.Ile1284=) c.3519T= (p.Ile1173=) c.3600T= (p.Ile1200=) n.1093T= c.3618T= (p.Ile1206=) n.3991T= n.718T= c.2787T= (p.Ile929=) c.2562T= (p.Ile854=) c.3657T= (p.Ile1219=) c.1630T= c.*953T= (n.*953T=) n.4596T= n.3197T= c.3708T= (p.Ile1236=) c.3756T= (p.Ile1252=) c.3816T= (p.Ile1272=) c.3366T= (p.Ile1122=) c.1668T= (p.Ile556=) c.1485T= (p.Ile495=) c.3717T= (p.Ile1239=) c.3669T= (p.Ile1223=) c.3438T= (p.Ile1146=) c.3339T= (p.Ile1113=) c.2520T= (p.Ile840=) n.4071T= | |
13 | g.51937527A>C | CA388021647 | ATP7B | c.*1502T>G (n.*1502T>G) c.*2596T>G (n.*2596T>G) c.3231T>G (p.Ile1077Met) c.3852T>G (p.Ile1284Met) c.3519T>G (p.Ile1173Met) c.3600T>G (p.Ile1200Met) n.1093T>G c.3618T>G (p.Ile1206Met) n.3991T>G n.718T>G c.2787T>G (p.Ile929Met) c.2562T>G (p.Ile854Met) c.3657T>G (p.Ile1219Met) c.1630T>G c.*953T>G (n.*953T>G) n.4596T>G n.3197T>G c.3708T>G (p.Ile1236Met) c.3756T>G (p.Ile1252Met) c.3816T>G (p.Ile1272Met) c.3366T>G (p.Ile1122Met) c.1668T>G (p.Ile556Met) c.1485T>G (p.Ile495Met) c.3717T>G (p.Ile1239Met) c.3669T>G (p.Ile1223Met) c.3438T>G (p.Ile1146Met) c.3339T>G (p.Ile1113Met) c.2520T>G (p.Ile840Met) n.4071T>G | |
13 | g.51937527A>G | CA6988559 | ATP7B | c.*1502T>C (n.*1502T>C) c.*2596T>C (n.*2596T>C) c.3231T>C (p.Ile1077=) c.3852T>C (p.Ile1284=) c.3519T>C (p.Ile1173=) c.3600T>C (p.Ile1200=) n.1093T>C c.3618T>C (p.Ile1206=) n.3991T>C n.718T>C c.2787T>C (p.Ile929=) c.2562T>C (p.Ile854=) c.3657T>C (p.Ile1219=) c.1630T>C c.*953T>C (n.*953T>C) n.4596T>C n.3197T>C c.3708T>C (p.Ile1236=) c.3756T>C (p.Ile1252=) c.3816T>C (p.Ile1272=) c.3366T>C (p.Ile1122=) c.1668T>C (p.Ile556=) c.1485T>C (p.Ile495=) c.3717T>C (p.Ile1239=) c.3669T>C (p.Ile1223=) c.3438T>C (p.Ile1146=) c.3339T>C (p.Ile1113=) c.2520T>C (p.Ile840=) n.4071T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937527A>T | CA484024301 | ATP7B | c.*1502T>A (n.*1502T>A) c.*2596T>A (n.*2596T>A) c.3231T>A (p.Ile1077=) c.3852T>A (p.Ile1284=) c.3519T>A (p.Ile1173=) c.3600T>A (p.Ile1200=) n.1093T>A c.3618T>A (p.Ile1206=) n.3991T>A n.718T>A c.2787T>A (p.Ile929=) c.2562T>A (p.Ile854=) c.3657T>A (p.Ile1219=) c.1630T>A c.*953T>A (n.*953T>A) n.4596T>A n.3197T>A c.3708T>A (p.Ile1236=) c.3756T>A (p.Ile1252=) c.3816T>A (p.Ile1272=) c.3366T>A (p.Ile1122=) c.1668T>A (p.Ile556=) c.1485T>A (p.Ile495=) c.3717T>A (p.Ile1239=) c.3669T>A (p.Ile1223=) c.3438T>A (p.Ile1146=) c.3339T>A (p.Ile1113=) c.2520T>A (p.Ile840=) n.4071T>A | |
13 | g.51937528A>C | CA388021650 | ATP7B | c.*1501T>G (n.*1501T>G) c.*2595T>G (n.*2595T>G) c.3230T>G (p.Ile1077Ser) c.3851T>G (p.Ile1284Ser) c.3518T>G (p.Ile1173Ser) c.3599T>G (p.Ile1200Ser) n.1092T>G c.3617T>G (p.Ile1206Ser) n.3990T>G n.717T>G c.2786T>G (p.Ile929Ser) c.2561T>G (p.Ile854Ser) c.3656T>G (p.Ile1219Ser) c.1629T>G c.*952T>G (n.*952T>G) n.4595T>G n.3196T>G c.3707T>G (p.Ile1236Ser) c.3755T>G (p.Ile1252Ser) c.3815T>G (p.Ile1272Ser) c.3365T>G (p.Ile1122Ser) c.1667T>G (p.Ile556Ser) c.1484T>G (p.Ile495Ser) c.3716T>G (p.Ile1239Ser) c.3668T>G (p.Ile1223Ser) c.3437T>G (p.Ile1146Ser) c.3338T>G (p.Ile1113Ser) c.2519T>G (p.Ile840Ser) n.4070T>G | |
13 | g.51937528A>G | CA388021653 | ATP7B | c.*1501T>C (n.*1501T>C) c.*2595T>C (n.*2595T>C) c.3230T>C (p.Ile1077Thr) c.3851T>C (p.Ile1284Thr) c.3518T>C (p.Ile1173Thr) c.3599T>C (p.Ile1200Thr) n.1092T>C c.3617T>C (p.Ile1206Thr) n.3990T>C n.717T>C c.2786T>C (p.Ile929Thr) c.2561T>C (p.Ile854Thr) c.3656T>C (p.Ile1219Thr) c.1629T>C c.*952T>C (n.*952T>C) n.4595T>C n.3196T>C c.3707T>C (p.Ile1236Thr) c.3755T>C (p.Ile1252Thr) c.3815T>C (p.Ile1272Thr) c.3365T>C (p.Ile1122Thr) c.1667T>C (p.Ile556Thr) c.1484T>C (p.Ile495Thr) c.3716T>C (p.Ile1239Thr) c.3668T>C (p.Ile1223Thr) c.3437T>C (p.Ile1146Thr) c.3338T>C (p.Ile1113Thr) c.2519T>C (p.Ile840Thr) n.4070T>C | |
13 | g.51937528A>T | CA388021655 | ATP7B | c.*1501T>A (n.*1501T>A) c.*2595T>A (n.*2595T>A) c.3230T>A (p.Ile1077Asn) c.3851T>A (p.Ile1284Asn) c.3518T>A (p.Ile1173Asn) c.3599T>A (p.Ile1200Asn) n.1092T>A c.3617T>A (p.Ile1206Asn) n.3990T>A n.717T>A c.2786T>A (p.Ile929Asn) c.2561T>A (p.Ile854Asn) c.3656T>A (p.Ile1219Asn) c.1629T>A c.*952T>A (n.*952T>A) n.4595T>A n.3196T>A c.3707T>A (p.Ile1236Asn) c.3755T>A (p.Ile1252Asn) c.3815T>A (p.Ile1272Asn) c.3365T>A (p.Ile1122Asn) c.1667T>A (p.Ile556Asn) c.1484T>A (p.Ile495Asn) c.3716T>A (p.Ile1239Asn) c.3668T>A (p.Ile1223Asn) c.3437T>A (p.Ile1146Asn) c.3338T>A (p.Ile1113Asn) c.2519T>A (p.Ile840Asn) n.4070T>A | |
13 | g.51937529T>A | CA388021659 | ATP7B | c.*1500A>T (n.*1500A>T) c.*2594A>T (n.*2594A>T) c.3229A>T (p.Ile1077Phe) c.3850A>T (p.Ile1284Phe) c.3517A>T (p.Ile1173Phe) c.3598A>T (p.Ile1200Phe) n.1091A>T c.3616A>T (p.Ile1206Phe) n.3989A>T n.716A>T c.2785A>T (p.Ile929Phe) c.2560A>T (p.Ile854Phe) c.3655A>T (p.Ile1219Phe) c.1628A>T c.*951A>T (n.*951A>T) n.4594A>T n.3195A>T c.3706A>T (p.Ile1236Phe) c.3754A>T (p.Ile1252Phe) c.3814A>T (p.Ile1272Phe) c.3364A>T (p.Ile1122Phe) c.1666A>T (p.Ile556Phe) c.1483A>T (p.Ile495Phe) c.3715A>T (p.Ile1239Phe) c.3667A>T (p.Ile1223Phe) c.3436A>T (p.Ile1146Phe) c.3337A>T (p.Ile1113Phe) c.2518A>T (p.Ile840Phe) n.4069A>T | |
13 | g.51937529T>C | CA388021663 | ATP7B | c.*1500A>G (n.*1500A>G) c.*2594A>G (n.*2594A>G) c.3229A>G (p.Ile1077Val) c.3850A>G (p.Ile1284Val) c.3517A>G (p.Ile1173Val) c.3598A>G (p.Ile1200Val) n.1091A>G c.3616A>G (p.Ile1206Val) n.3989A>G n.716A>G c.2785A>G (p.Ile929Val) c.2560A>G (p.Ile854Val) c.3655A>G (p.Ile1219Val) c.1628A>G c.*951A>G (n.*951A>G) n.4594A>G n.3195A>G c.3706A>G (p.Ile1236Val) c.3754A>G (p.Ile1252Val) c.3814A>G (p.Ile1272Val) c.3364A>G (p.Ile1122Val) c.1666A>G (p.Ile556Val) c.1483A>G (p.Ile495Val) c.3715A>G (p.Ile1239Val) c.3667A>G (p.Ile1223Val) c.3436A>G (p.Ile1146Val) c.3337A>G (p.Ile1113Val) c.2518A>G (p.Ile840Val) n.4069A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937529T>G | CA388021666 | ATP7B | c.*1500A>C (n.*1500A>C) c.*2594A>C (n.*2594A>C) c.3229A>C (p.Ile1077Leu) c.3850A>C (p.Ile1284Leu) c.3517A>C (p.Ile1173Leu) c.3598A>C (p.Ile1200Leu) n.1091A>C c.3616A>C (p.Ile1206Leu) n.3989A>C n.716A>C c.2785A>C (p.Ile929Leu) c.2560A>C (p.Ile854Leu) c.3655A>C (p.Ile1219Leu) c.1628A>C c.*951A>C (n.*951A>C) n.4594A>C n.3195A>C c.3706A>C (p.Ile1236Leu) c.3754A>C (p.Ile1252Leu) c.3814A>C (p.Ile1272Leu) c.3364A>C (p.Ile1122Leu) c.1666A>C (p.Ile556Leu) c.1483A>C (p.Ile495Leu) c.3715A>C (p.Ile1239Leu) c.3667A>C (p.Ile1223Leu) c.3436A>C (p.Ile1146Leu) c.3337A>C (p.Ile1113Leu) c.2518A>C (p.Ile840Leu) n.4069A>C | |
13 | g.51937529T= | CA2091553876 | ATP7B | c.*1500A= (n.*1500A=) c.*2594A= (n.*2594A=) c.3229A= (p.Ile1077=) c.3850A= (p.Ile1284=) c.3517A= (p.Ile1173=) c.3598A= (p.Ile1200=) n.1091A= c.3616A= (p.Ile1206=) n.3989A= n.716A= c.2785A= (p.Ile929=) c.2560A= (p.Ile854=) c.3655A= (p.Ile1219=) c.1628A= c.*951A= (n.*951A=) n.4594A= n.3195A= c.3706A= (p.Ile1236=) c.3754A= (p.Ile1252=) c.3814A= (p.Ile1272=) c.3364A= (p.Ile1122=) c.1666A= (p.Ile556=) c.1483A= (p.Ile495=) c.3715A= (p.Ile1239=) c.3667A= (p.Ile1223=) c.3436A= (p.Ile1146=) c.3337A= (p.Ile1113=) c.2518A= (p.Ile840=) n.4069A= | |
13 | g.51937530G>A | CA484024304 | ATP7B | c.*1499C>T (n.*1499C>T) c.*2593C>T (n.*2593C>T) c.3228C>T (p.Ala1076=) c.3849C>T (p.Ala1283=) c.3516C>T (p.Ala1172=) c.3597C>T (p.Ala1199=) n.1090C>T c.3615C>T (p.Ala1205=) n.3988C>T n.715C>T c.2784C>T (p.Ala928=) c.2559C>T (p.Ala853=) c.3654C>T (p.Ala1218=) c.1627C>T c.*950C>T (n.*950C>T) n.4593C>T n.3194C>T c.3705C>T (p.Ala1235=) c.3753C>T (p.Ala1251=) c.3813C>T (p.Ala1271=) c.3363C>T (p.Ala1121=) c.1665C>T (p.Ala555=) c.1482C>T (p.Ala494=) c.3714C>T (p.Ala1238=) c.3666C>T (p.Ala1222=) c.3435C>T (p.Ala1145=) c.3336C>T (p.Ala1112=) c.2517C>T (p.Ala839=) n.4068C>T | |
13 | g.51937530G>C | CA484024302 | ATP7B | c.*1499C>G (n.*1499C>G) c.*2593C>G (n.*2593C>G) c.3228C>G (p.Ala1076=) c.3849C>G (p.Ala1283=) c.3516C>G (p.Ala1172=) c.3597C>G (p.Ala1199=) n.1090C>G c.3615C>G (p.Ala1205=) n.3988C>G n.715C>G c.2784C>G (p.Ala928=) c.2559C>G (p.Ala853=) c.3654C>G (p.Ala1218=) c.1627C>G c.*950C>G (n.*950C>G) n.4593C>G n.3194C>G c.3705C>G (p.Ala1235=) c.3753C>G (p.Ala1251=) c.3813C>G (p.Ala1271=) c.3363C>G (p.Ala1121=) c.1665C>G (p.Ala555=) c.1482C>G (p.Ala494=) c.3714C>G (p.Ala1238=) c.3666C>G (p.Ala1222=) c.3435C>G (p.Ala1145=) c.3336C>G (p.Ala1112=) c.2517C>G (p.Ala839=) n.4068C>G | |
13 | g.51937530G>T | CA484024303 | ATP7B | c.*1499C>A (n.*1499C>A) c.*2593C>A (n.*2593C>A) c.3228C>A (p.Ala1076=) c.3849C>A (p.Ala1283=) c.3516C>A (p.Ala1172=) c.3597C>A (p.Ala1199=) n.1090C>A c.3615C>A (p.Ala1205=) n.3988C>A n.715C>A c.2784C>A (p.Ala928=) c.2559C>A (p.Ala853=) c.3654C>A (p.Ala1218=) c.1627C>A c.*950C>A (n.*950C>A) n.4593C>A n.3194C>A c.3705C>A (p.Ala1235=) c.3753C>A (p.Ala1251=) c.3813C>A (p.Ala1271=) c.3363C>A (p.Ala1121=) c.1665C>A (p.Ala555=) c.1482C>A (p.Ala494=) c.3714C>A (p.Ala1238=) c.3666C>A (p.Ala1222=) c.3435C>A (p.Ala1145=) c.3336C>A (p.Ala1112=) c.2517C>A (p.Ala839=) n.4068C>A | |
13 | g.51937531G>A | CA388021670 | ATP7B | c.*1498C>T (n.*1498C>T) c.*2592C>T (n.*2592C>T) c.3227C>T (p.Ala1076Val) c.3848C>T (p.Ala1283Val) c.3515C>T (p.Ala1172Val) c.3596C>T (p.Ala1199Val) n.1089C>T c.3614C>T (p.Ala1205Val) n.3987C>T n.714C>T c.2783C>T (p.Ala928Val) c.2558C>T (p.Ala853Val) c.3653C>T (p.Ala1218Val) c.1626C>T c.*949C>T (n.*949C>T) n.4592C>T n.3193C>T c.3704C>T (p.Ala1235Val) c.3752C>T (p.Ala1251Val) c.3812C>T (p.Ala1271Val) c.3362C>T (p.Ala1121Val) c.1664C>T (p.Ala555Val) c.1481C>T (p.Ala494Val) c.3713C>T (p.Ala1238Val) c.3665C>T (p.Ala1222Val) c.3434C>T (p.Ala1145Val) c.3335C>T (p.Ala1112Val) c.2516C>T (p.Ala839Val) n.4067C>T | |
13 | g.51937531G>C | CA6988560 | ATP7B | c.*1498C>G (n.*1498C>G) c.*2592C>G (n.*2592C>G) c.3227C>G (p.Ala1076Gly) c.3848C>G (p.Ala1283Gly) c.3515C>G (p.Ala1172Gly) c.3596C>G (p.Ala1199Gly) n.1089C>G c.3614C>G (p.Ala1205Gly) n.3987C>G n.714C>G c.2783C>G (p.Ala928Gly) c.2558C>G (p.Ala853Gly) c.3653C>G (p.Ala1218Gly) c.1626C>G c.*949C>G (n.*949C>G) n.4592C>G n.3193C>G c.3704C>G (p.Ala1235Gly) c.3752C>G (p.Ala1251Gly) c.3812C>G (p.Ala1271Gly) c.3362C>G (p.Ala1121Gly) c.1664C>G (p.Ala555Gly) c.1481C>G (p.Ala494Gly) c.3713C>G (p.Ala1238Gly) c.3665C>G (p.Ala1222Gly) c.3434C>G (p.Ala1145Gly) c.3335C>G (p.Ala1112Gly) c.2516C>G (p.Ala839Gly) n.4067C>G | dbSNP ExAC |
13 | g.51937531G= | CA2091553881 | ATP7B | c.*1498C= (n.*1498C=) c.*2592C= (n.*2592C=) c.3227C= (p.Ala1076=) c.3848C= (p.Ala1283=) c.3515C= (p.Ala1172=) c.3596C= (p.Ala1199=) n.1089C= c.3614C= (p.Ala1205=) n.3987C= n.714C= c.2783C= (p.Ala928=) c.2558C= (p.Ala853=) c.3653C= (p.Ala1218=) c.1626C= c.*949C= (n.*949C=) n.4592C= n.3193C= c.3704C= (p.Ala1235=) c.3752C= (p.Ala1251=) c.3812C= (p.Ala1271=) c.3362C= (p.Ala1121=) c.1664C= (p.Ala555=) c.1481C= (p.Ala494=) c.3713C= (p.Ala1238=) c.3665C= (p.Ala1222=) c.3434C= (p.Ala1145=) c.3335C= (p.Ala1112=) c.2516C= (p.Ala839=) n.4067C= | |
13 | g.51937531G>T | CA388021673 | ATP7B | c.*1498C>A (n.*1498C>A) c.*2592C>A (n.*2592C>A) c.3227C>A (p.Ala1076Asp) c.3848C>A (p.Ala1283Asp) c.3515C>A (p.Ala1172Asp) c.3596C>A (p.Ala1199Asp) n.1089C>A c.3614C>A (p.Ala1205Asp) n.3987C>A n.714C>A c.2783C>A (p.Ala928Asp) c.2558C>A (p.Ala853Asp) c.3653C>A (p.Ala1218Asp) c.1626C>A c.*949C>A (n.*949C>A) n.4592C>A n.3193C>A c.3704C>A (p.Ala1235Asp) c.3752C>A (p.Ala1251Asp) c.3812C>A (p.Ala1271Asp) c.3362C>A (p.Ala1121Asp) c.1664C>A (p.Ala555Asp) c.1481C>A (p.Ala494Asp) c.3713C>A (p.Ala1238Asp) c.3665C>A (p.Ala1222Asp) c.3434C>A (p.Ala1145Asp) c.3335C>A (p.Ala1112Asp) c.2516C>A (p.Ala839Asp) n.4067C>A | |
13 | g.51937532C>A | CA388021678 | ATP7B | c.*1497G>T (n.*1497G>T) c.*2591G>T (n.*2591G>T) c.3226G>T (p.Ala1076Ser) c.3847G>T (p.Ala1283Ser) c.3514G>T (p.Ala1172Ser) c.3595G>T (p.Ala1199Ser) n.1088G>T c.3613G>T (p.Ala1205Ser) n.3986G>T n.713G>T c.2782G>T (p.Ala928Ser) c.2557G>T (p.Ala853Ser) c.3652G>T (p.Ala1218Ser) c.1625G>T c.*948G>T (n.*948G>T) n.4591G>T n.3192G>T c.3703G>T (p.Ala1235Ser) c.3751G>T (p.Ala1251Ser) c.3811G>T (p.Ala1271Ser) c.3361G>T (p.Ala1121Ser) c.1663G>T (p.Ala555Ser) c.1480G>T (p.Ala494Ser) c.3712G>T (p.Ala1238Ser) c.3664G>T (p.Ala1222Ser) c.3433G>T (p.Ala1145Ser) c.3334G>T (p.Ala1112Ser) c.2515G>T (p.Ala839Ser) n.4066G>T | |
13 | g.51937532C= | CA2091553885 | ATP7B | c.*1497G= (n.*1497G=) c.*2591G= (n.*2591G=) c.3226G= (p.Ala1076=) c.3847G= (p.Ala1283=) c.3514G= (p.Ala1172=) c.3595G= (p.Ala1199=) n.1088G= c.3613G= (p.Ala1205=) n.3986G= n.713G= c.2782G= (p.Ala928=) c.2557G= (p.Ala853=) c.3652G= (p.Ala1218=) c.1625G= c.*948G= (n.*948G=) n.4591G= n.3192G= c.3703G= (p.Ala1235=) c.3751G= (p.Ala1251=) c.3811G= (p.Ala1271=) c.3361G= (p.Ala1121=) c.1663G= (p.Ala555=) c.1480G= (p.Ala494=) c.3712G= (p.Ala1238=) c.3664G= (p.Ala1222=) c.3433G= (p.Ala1145=) c.3334G= (p.Ala1112=) c.2515G= (p.Ala839=) n.4066G= | |
13 | g.51937532C>G | CA388021681 | ATP7B | c.*1497G>C (n.*1497G>C) c.*2591G>C (n.*2591G>C) c.3226G>C (p.Ala1076Pro) c.3847G>C (p.Ala1283Pro) c.3514G>C (p.Ala1172Pro) c.3595G>C (p.Ala1199Pro) n.1088G>C c.3613G>C (p.Ala1205Pro) n.3986G>C n.713G>C c.2782G>C (p.Ala928Pro) c.2557G>C (p.Ala853Pro) c.3652G>C (p.Ala1218Pro) c.1625G>C c.*948G>C (n.*948G>C) n.4591G>C n.3192G>C c.3703G>C (p.Ala1235Pro) c.3751G>C (p.Ala1251Pro) c.3811G>C (p.Ala1271Pro) c.3361G>C (p.Ala1121Pro) c.1663G>C (p.Ala555Pro) c.1480G>C (p.Ala494Pro) c.3712G>C (p.Ala1238Pro) c.3664G>C (p.Ala1222Pro) c.3433G>C (p.Ala1145Pro) c.3334G>C (p.Ala1112Pro) c.2515G>C (p.Ala839Pro) n.4066G>C | |
13 | g.51937532C>T | CA388021683 | ATP7B | c.*1497G>A (n.*1497G>A) c.*2591G>A (n.*2591G>A) c.3226G>A (p.Ala1076Thr) c.3847G>A (p.Ala1283Thr) c.3514G>A (p.Ala1172Thr) c.3595G>A (p.Ala1199Thr) n.1088G>A c.3613G>A (p.Ala1205Thr) n.3986G>A n.713G>A c.2782G>A (p.Ala928Thr) c.2557G>A (p.Ala853Thr) c.3652G>A (p.Ala1218Thr) c.1625G>A c.*948G>A (n.*948G>A) n.4591G>A n.3192G>A c.3703G>A (p.Ala1235Thr) c.3751G>A (p.Ala1251Thr) c.3811G>A (p.Ala1271Thr) c.3361G>A (p.Ala1121Thr) c.1663G>A (p.Ala555Thr) c.1480G>A (p.Ala494Thr) c.3712G>A (p.Ala1238Thr) c.3664G>A (p.Ala1222Thr) c.3433G>A (p.Ala1145Thr) c.3334G>A (p.Ala1112Thr) c.2515G>A (p.Ala839Thr) n.4066G>A | dbSNP gnomAD v4 |
13 | g.51937533C>A | CA484024305 | ATP7B | c.*1496G>T (n.*1496G>T) c.*2590G>T (n.*2590G>T) c.3225G>T (p.Val1075=) c.3846G>T (p.Val1282=) c.3513G>T (p.Val1171=) c.3594G>T (p.Val1198=) n.1087G>T c.3612G>T (p.Val1204=) n.3985G>T n.712G>T c.2781G>T (p.Val927=) c.2556G>T (p.Val852=) c.3651G>T (p.Val1217=) c.1624G>T c.*947G>T (n.*947G>T) n.4590G>T n.3191G>T c.3702G>T (p.Val1234=) c.3750G>T (p.Val1250=) c.3810G>T (p.Val1270=) c.3360G>T (p.Val1120=) c.1662G>T (p.Val554=) c.1479G>T (p.Val493=) c.3711G>T (p.Val1237=) c.3663G>T (p.Val1221=) c.3432G>T (p.Val1144=) c.3333G>T (p.Val1111=) c.2514G>T (p.Val838=) n.4065G>T | dbSNP |
13 | g.51937533C>G | CA484024306 | ATP7B | c.*1496G>C (n.*1496G>C) c.*2590G>C (n.*2590G>C) c.3225G>C (p.Val1075=) c.3846G>C (p.Val1282=) c.3513G>C (p.Val1171=) c.3594G>C (p.Val1198=) n.1087G>C c.3612G>C (p.Val1204=) n.3985G>C n.712G>C c.2781G>C (p.Val927=) c.2556G>C (p.Val852=) c.3651G>C (p.Val1217=) c.1624G>C c.*947G>C (n.*947G>C) n.4590G>C n.3191G>C c.3702G>C (p.Val1234=) c.3750G>C (p.Val1250=) c.3810G>C (p.Val1270=) c.3360G>C (p.Val1120=) c.1662G>C (p.Val554=) c.1479G>C (p.Val493=) c.3711G>C (p.Val1237=) c.3663G>C (p.Val1221=) c.3432G>C (p.Val1144=) c.3333G>C (p.Val1111=) c.2514G>C (p.Val838=) n.4065G>C | ClinVar |
13 | g.51937533C>T | CA484024307 | ATP7B | c.*1496G>A (n.*1496G>A) c.*2590G>A (n.*2590G>A) c.3225G>A (p.Val1075=) c.3846G>A (p.Val1282=) c.3513G>A (p.Val1171=) c.3594G>A (p.Val1198=) n.1087G>A c.3612G>A (p.Val1204=) n.3985G>A n.712G>A c.2781G>A (p.Val927=) c.2556G>A (p.Val852=) c.3651G>A (p.Val1217=) c.1624G>A c.*947G>A (n.*947G>A) n.4590G>A n.3191G>A c.3702G>A (p.Val1234=) c.3750G>A (p.Val1250=) c.3810G>A (p.Val1270=) c.3360G>A (p.Val1120=) c.1662G>A (p.Val554=) c.1479G>A (p.Val493=) c.3711G>A (p.Val1237=) c.3663G>A (p.Val1221=) c.3432G>A (p.Val1144=) c.3333G>A (p.Val1111=) c.2514G>A (p.Val838=) n.4065G>A | |
13 | g.51937534A= | CA2091553889 | ATP7B | c.*1495T= (n.*1495T=) c.*2589T= (n.*2589T=) c.3224T= (p.Val1075=) c.3845T= (p.Val1282=) c.3512T= (p.Val1171=) c.3593T= (p.Val1198=) n.1086T= c.3611T= (p.Val1204=) n.3984T= n.711T= c.2780T= (p.Val927=) c.2555T= (p.Val852=) c.3650T= (p.Val1217=) c.1623T= c.*946T= (n.*946T=) n.4589T= n.3190T= c.3701T= (p.Val1234=) c.3749T= (p.Val1250=) c.3809T= (p.Val1270=) c.3359T= (p.Val1120=) c.1661T= (p.Val554=) c.1478T= (p.Val493=) c.3710T= (p.Val1237=) c.3662T= (p.Val1221=) c.3431T= (p.Val1144=) c.3332T= (p.Val1111=) c.2513T= (p.Val838=) n.4064T= | |
13 | g.51937534A>C | CA388021687 | ATP7B | c.*1495T>G (n.*1495T>G) c.*2589T>G (n.*2589T>G) c.3224T>G (p.Val1075Gly) c.3845T>G (p.Val1282Gly) c.3512T>G (p.Val1171Gly) c.3593T>G (p.Val1198Gly) n.1086T>G c.3611T>G (p.Val1204Gly) n.3984T>G n.711T>G c.2780T>G (p.Val927Gly) c.2555T>G (p.Val852Gly) c.3650T>G (p.Val1217Gly) c.1623T>G c.*946T>G (n.*946T>G) n.4589T>G n.3190T>G c.3701T>G (p.Val1234Gly) c.3749T>G (p.Val1250Gly) c.3809T>G (p.Val1270Gly) c.3359T>G (p.Val1120Gly) c.1661T>G (p.Val554Gly) c.1478T>G (p.Val493Gly) c.3710T>G (p.Val1237Gly) c.3662T>G (p.Val1221Gly) c.3431T>G (p.Val1144Gly) c.3332T>G (p.Val1111Gly) c.2513T>G (p.Val838Gly) n.4064T>G | |
13 | g.51937534A>G | CA6988561 | ATP7B | c.*1495T>C (n.*1495T>C) c.*2589T>C (n.*2589T>C) c.3224T>C (p.Val1075Ala) c.3845T>C (p.Val1282Ala) c.3512T>C (p.Val1171Ala) c.3593T>C (p.Val1198Ala) n.1086T>C c.3611T>C (p.Val1204Ala) n.3984T>C n.711T>C c.2780T>C (p.Val927Ala) c.2555T>C (p.Val852Ala) c.3650T>C (p.Val1217Ala) c.1623T>C c.*946T>C (n.*946T>C) n.4589T>C n.3190T>C c.3701T>C (p.Val1234Ala) c.3749T>C (p.Val1250Ala) c.3809T>C (p.Val1270Ala) c.3359T>C (p.Val1120Ala) c.1661T>C (p.Val554Ala) c.1478T>C (p.Val493Ala) c.3710T>C (p.Val1237Ala) c.3662T>C (p.Val1221Ala) c.3431T>C (p.Val1144Ala) c.3332T>C (p.Val1111Ala) c.2513T>C (p.Val838Ala) n.4064T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937534A>T | CA388021693 | ATP7B | c.*1495T>A (n.*1495T>A) c.*2589T>A (n.*2589T>A) c.3224T>A (p.Val1075Glu) c.3845T>A (p.Val1282Glu) c.3512T>A (p.Val1171Glu) c.3593T>A (p.Val1198Glu) n.1086T>A c.3611T>A (p.Val1204Glu) n.3984T>A n.711T>A c.2780T>A (p.Val927Glu) c.2555T>A (p.Val852Glu) c.3650T>A (p.Val1217Glu) c.1623T>A c.*946T>A (n.*946T>A) n.4589T>A n.3190T>A c.3701T>A (p.Val1234Glu) c.3749T>A (p.Val1250Glu) c.3809T>A (p.Val1270Glu) c.3359T>A (p.Val1120Glu) c.1661T>A (p.Val554Glu) c.1478T>A (p.Val493Glu) c.3710T>A (p.Val1237Glu) c.3662T>A (p.Val1221Glu) c.3431T>A (p.Val1144Glu) c.3332T>A (p.Val1111Glu) c.2513T>A (p.Val838Glu) n.4064T>A | |
13 | g.51937534dup | CA2499222486 | ATP7B | c.*1495dup (n.*1495dup) c.*2589dup (n.*2589dup) c.3224dup (p.Ala1076GlyfsTer21) c.3845dup (p.Ala1283GlyfsTer21) c.3512dup (p.Ala1172GlyfsTer21) c.3593dup (p.Ala1199GlyfsTer21) n.1086dup c.3611dup (p.Ala1205GlyfsTer21) n.3984dup n.711dup c.2780dup (p.Ala928GlyfsTer21) c.2555dup (p.Ala853GlyfsTer21) c.3650dup (p.Ala1218GlyfsTer21) c.1623dup c.*946dup (n.*946dup) n.4589dup n.3190dup c.3701dup (p.Ala1235GlyfsTer21) c.3749dup (p.Ala1251GlyfsTer21) c.3809dup (p.Ala1271GlyfsTer21) c.3359dup (p.Ala1121GlyfsTer21) c.1661dup (p.Ala555GlyfsTer21) c.1478dup (p.Ala494GlyfsTer21) c.3710dup (p.Ala1238GlyfsTer21) c.3662dup (p.Ala1222GlyfsTer21) c.3431dup (p.Ala1145GlyfsTer21) c.3332dup (p.Ala1112GlyfsTer21) c.2513dup (p.Ala839GlyfsTer21) n.4064dup | ClinVar dbSNP |
13 | g.51937535C>A | CA388021697 | ATP7B | c.*1494G>T (n.*1494G>T) c.*2588G>T (n.*2588G>T) c.3223G>T (p.Val1075Leu) c.3844G>T (p.Val1282Leu) c.3511G>T (p.Val1171Leu) c.3592G>T (p.Val1198Leu) n.1085G>T c.3610G>T (p.Val1204Leu) n.3983G>T n.710G>T c.2779G>T (p.Val927Leu) c.2554G>T (p.Val852Leu) c.3649G>T (p.Val1217Leu) c.1622G>T c.*945G>T (n.*945G>T) n.4588G>T n.3189G>T c.3700G>T (p.Val1234Leu) c.3748G>T (p.Val1250Leu) c.3808G>T (p.Val1270Leu) c.3358G>T (p.Val1120Leu) c.1660G>T (p.Val554Leu) c.1477G>T (p.Val493Leu) c.3709G>T (p.Val1237Leu) c.3661G>T (p.Val1221Leu) c.3430G>T (p.Val1144Leu) c.3331G>T (p.Val1111Leu) c.2512G>T (p.Val838Leu) n.4063G>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937535C= | CA2091553895 | ATP7B | c.*1494G= (n.*1494G=) c.*2588G= (n.*2588G=) c.3223G= (p.Val1075=) c.3844G= (p.Val1282=) c.3511G= (p.Val1171=) c.3592G= (p.Val1198=) n.1085G= c.3610G= (p.Val1204=) n.3983G= n.710G= c.2779G= (p.Val927=) c.2554G= (p.Val852=) c.3649G= (p.Val1217=) c.1622G= c.*945G= (n.*945G=) n.4588G= n.3189G= c.3700G= (p.Val1234=) c.3748G= (p.Val1250=) c.3808G= (p.Val1270=) c.3358G= (p.Val1120=) c.1660G= (p.Val554=) c.1477G= (p.Val493=) c.3709G= (p.Val1237=) c.3661G= (p.Val1221=) c.3430G= (p.Val1144=) c.3331G= (p.Val1111=) c.2512G= (p.Val838=) n.4063G= | |
13 | g.51937535C>G | CA388021700 | ATP7B | c.*1494G>C (n.*1494G>C) c.*2588G>C (n.*2588G>C) c.3223G>C (p.Val1075Leu) c.3844G>C (p.Val1282Leu) c.3511G>C (p.Val1171Leu) c.3592G>C (p.Val1198Leu) n.1085G>C c.3610G>C (p.Val1204Leu) n.3983G>C n.710G>C c.2779G>C (p.Val927Leu) c.2554G>C (p.Val852Leu) c.3649G>C (p.Val1217Leu) c.1622G>C c.*945G>C (n.*945G>C) n.4588G>C n.3189G>C c.3700G>C (p.Val1234Leu) c.3748G>C (p.Val1250Leu) c.3808G>C (p.Val1270Leu) c.3358G>C (p.Val1120Leu) c.1660G>C (p.Val554Leu) c.1477G>C (p.Val493Leu) c.3709G>C (p.Val1237Leu) c.3661G>C (p.Val1221Leu) c.3430G>C (p.Val1144Leu) c.3331G>C (p.Val1111Leu) c.2512G>C (p.Val838Leu) n.4063G>C | |
13 | g.51937535C>T | CA388021712 | ATP7B | c.*1494G>A (n.*1494G>A) c.*2588G>A (n.*2588G>A) c.3223G>A (p.Val1075Met) c.3844G>A (p.Val1282Met) c.3511G>A (p.Val1171Met) c.3592G>A (p.Val1198Met) n.1085G>A c.3610G>A (p.Val1204Met) n.3983G>A n.710G>A c.2779G>A (p.Val927Met) c.2554G>A (p.Val852Met) c.3649G>A (p.Val1217Met) c.1622G>A c.*945G>A (n.*945G>A) n.4588G>A n.3189G>A c.3700G>A (p.Val1234Met) c.3748G>A (p.Val1250Met) c.3808G>A (p.Val1270Met) c.3358G>A (p.Val1120Met) c.1660G>A (p.Val554Met) c.1477G>A (p.Val493Met) c.3709G>A (p.Val1237Met) c.3661G>A (p.Val1221Met) c.3430G>A (p.Val1144Met) c.3331G>A (p.Val1111Met) c.2512G>A (p.Val838Met) n.4063G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937536A>C | CA484024309 | ATP7B | c.*1493T>G (n.*1493T>G) c.*2587T>G (n.*2587T>G) c.3222T>G (p.Gly1074=) c.3843T>G (p.Gly1281=) c.3510T>G (p.Gly1170=) c.3591T>G (p.Gly1197=) n.1084T>G c.3609T>G (p.Gly1203=) n.3982T>G n.709T>G c.2778T>G (p.Gly926=) c.2553T>G (p.Gly851=) c.3648T>G (p.Gly1216=) c.1621T>G c.*944T>G (n.*944T>G) n.4587T>G n.3188T>G c.3699T>G (p.Gly1233=) c.3747T>G (p.Gly1249=) c.3807T>G (p.Gly1269=) c.3357T>G (p.Gly1119=) c.1659T>G (p.Gly553=) c.1476T>G (p.Gly492=) c.3708T>G (p.Gly1236=) c.3660T>G (p.Gly1220=) c.3429T>G (p.Gly1143=) c.3330T>G (p.Gly1110=) c.2511T>G (p.Gly837=) n.4062T>G | |
13 | g.51937536A>G | CA484024310 | ATP7B | c.*1493T>C (n.*1493T>C) c.*2587T>C (n.*2587T>C) c.3222T>C (p.Gly1074=) c.3843T>C (p.Gly1281=) c.3510T>C (p.Gly1170=) c.3591T>C (p.Gly1197=) n.1084T>C c.3609T>C (p.Gly1203=) n.3982T>C n.709T>C c.2778T>C (p.Gly926=) c.2553T>C (p.Gly851=) c.3648T>C (p.Gly1216=) c.1621T>C c.*944T>C (n.*944T>C) n.4587T>C n.3188T>C c.3699T>C (p.Gly1233=) c.3747T>C (p.Gly1249=) c.3807T>C (p.Gly1269=) c.3357T>C (p.Gly1119=) c.1659T>C (p.Gly553=) c.1476T>C (p.Gly492=) c.3708T>C (p.Gly1236=) c.3660T>C (p.Gly1220=) c.3429T>C (p.Gly1143=) c.3330T>C (p.Gly1110=) c.2511T>C (p.Gly837=) n.4062T>C | ClinVar |
13 | g.51937536A>T | CA484024311 | ATP7B | c.*1493T>A (n.*1493T>A) c.*2587T>A (n.*2587T>A) c.3222T>A (p.Gly1074=) c.3843T>A (p.Gly1281=) c.3510T>A (p.Gly1170=) c.3591T>A (p.Gly1197=) n.1084T>A c.3609T>A (p.Gly1203=) n.3982T>A n.709T>A c.2778T>A (p.Gly926=) c.2553T>A (p.Gly851=) c.3648T>A (p.Gly1216=) c.1621T>A c.*944T>A (n.*944T>A) n.4587T>A n.3188T>A c.3699T>A (p.Gly1233=) c.3747T>A (p.Gly1249=) c.3807T>A (p.Gly1269=) c.3357T>A (p.Gly1119=) c.1659T>A (p.Gly553=) c.1476T>A (p.Gly492=) c.3708T>A (p.Gly1236=) c.3660T>A (p.Gly1220=) c.3429T>A (p.Gly1143=) c.3330T>A (p.Gly1110=) c.2511T>A (p.Gly837=) n.4062T>A | |
13 | g.51937536dup | CA484024308 | ATP7B | c.*1493dup (n.*1493dup) c.*2587dup (n.*2587dup) c.3222dup (p.Val1075CysfsTer22) c.3843dup (p.Val1282CysfsTer22) c.3510dup (p.Val1171CysfsTer22) c.3591dup (p.Val1198CysfsTer22) n.1084dup c.3609dup (p.Val1204CysfsTer22) n.3982dup n.709dup c.2778dup (p.Val927CysfsTer22) c.2553dup (p.Val852CysfsTer22) c.3648dup (p.Val1217CysfsTer22) c.1621dup c.*944dup (n.*944dup) n.4587dup n.3188dup c.3699dup (p.Val1234CysfsTer22) c.3747dup (p.Val1250CysfsTer22) c.3807dup (p.Val1270CysfsTer22) c.3357dup (p.Val1120CysfsTer22) c.1659dup (p.Val554CysfsTer22) c.1476dup (p.Val493CysfsTer22) c.3708dup (p.Val1237CysfsTer22) c.3660dup (p.Val1221CysfsTer22) c.3429dup (p.Val1144CysfsTer22) c.3330dup (p.Val1111CysfsTer22) c.2511dup (p.Val838CysfsTer22) n.4062dup | ClinVar dbSNP gnomAD v4 |
13 | g.51937537C>A | CA388021716 | ATP7B | c.*1492G>T (n.*1492G>T) c.*2586G>T (n.*2586G>T) c.3221G>T (p.Gly1074Val) c.3842G>T (p.Gly1281Val) c.3509G>T (p.Gly1170Val) c.3590G>T (p.Gly1197Val) n.1083G>T c.3608G>T (p.Gly1203Val) n.3981G>T n.708G>T c.2777G>T (p.Gly926Val) c.2552G>T (p.Gly851Val) c.3647G>T (p.Gly1216Val) c.1620G>T c.*943G>T (n.*943G>T) n.4586G>T n.3187G>T c.3698G>T (p.Gly1233Val) c.3746G>T (p.Gly1249Val) c.3806G>T (p.Gly1269Val) c.3356G>T (p.Gly1119Val) c.1658G>T (p.Gly553Val) c.1475G>T (p.Gly492Val) c.3707G>T (p.Gly1236Val) c.3659G>T (p.Gly1220Val) c.3428G>T (p.Gly1143Val) c.3329G>T (p.Gly1110Val) c.2510G>T (p.Gly837Val) n.4061G>T | ClinVar dbSNP |
13 | g.51937537C= | CA2091553913 | ATP7B | c.*1492G= (n.*1492G=) c.*2586G= (n.*2586G=) c.3221G= (p.Gly1074=) c.3842G= (p.Gly1281=) c.3509G= (p.Gly1170=) c.3590G= (p.Gly1197=) n.1083G= c.3608G= (p.Gly1203=) n.3981G= n.708G= c.2777G= (p.Gly926=) c.2552G= (p.Gly851=) c.3647G= (p.Gly1216=) c.1620G= c.*943G= (n.*943G=) n.4586G= n.3187G= c.3698G= (p.Gly1233=) c.3746G= (p.Gly1249=) c.3806G= (p.Gly1269=) c.3356G= (p.Gly1119=) c.1658G= (p.Gly553=) c.1475G= (p.Gly492=) c.3707G= (p.Gly1236=) c.3659G= (p.Gly1220=) c.3428G= (p.Gly1143=) c.3329G= (p.Gly1110=) c.2510G= (p.Gly837=) n.4061G= | |
13 | g.51937537C>G | CA6988562 | ATP7B | c.*1492G>C (n.*1492G>C) c.*2586G>C (n.*2586G>C) c.3221G>C (p.Gly1074Ala) c.3842G>C (p.Gly1281Ala) c.3509G>C (p.Gly1170Ala) c.3590G>C (p.Gly1197Ala) n.1083G>C c.3608G>C (p.Gly1203Ala) n.3981G>C n.708G>C c.2777G>C (p.Gly926Ala) c.2552G>C (p.Gly851Ala) c.3647G>C (p.Gly1216Ala) c.1620G>C c.*943G>C (n.*943G>C) n.4586G>C n.3187G>C c.3698G>C (p.Gly1233Ala) c.3746G>C (p.Gly1249Ala) c.3806G>C (p.Gly1269Ala) c.3356G>C (p.Gly1119Ala) c.1658G>C (p.Gly553Ala) c.1475G>C (p.Gly492Ala) c.3707G>C (p.Gly1236Ala) c.3659G>C (p.Gly1220Ala) c.3428G>C (p.Gly1143Ala) c.3329G>C (p.Gly1110Ala) c.2510G>C (p.Gly837Ala) n.4061G>C | dbSNP ExAC gnomAD v2 |
13 | g.51937537C>T | CA388021725 | ATP7B | c.*1492G>A (n.*1492G>A) c.*2586G>A (n.*2586G>A) c.3221G>A (p.Gly1074Asp) c.3842G>A (p.Gly1281Asp) c.3509G>A (p.Gly1170Asp) c.3590G>A (p.Gly1197Asp) n.1083G>A c.3608G>A (p.Gly1203Asp) n.3981G>A n.708G>A c.2777G>A (p.Gly926Asp) c.2552G>A (p.Gly851Asp) c.3647G>A (p.Gly1216Asp) c.1620G>A c.*943G>A (n.*943G>A) n.4586G>A n.3187G>A c.3698G>A (p.Gly1233Asp) c.3746G>A (p.Gly1249Asp) c.3806G>A (p.Gly1269Asp) c.3356G>A (p.Gly1119Asp) c.1658G>A (p.Gly553Asp) c.1475G>A (p.Gly492Asp) c.3707G>A (p.Gly1236Asp) c.3659G>A (p.Gly1220Asp) c.3428G>A (p.Gly1143Asp) c.3329G>A (p.Gly1110Asp) c.2510G>A (p.Gly837Asp) n.4061G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51937537_51937538insT | CA2538880795 | ATP7B | c.*1491_*1492insA (n.*1491_*1492insA) c.*2585_*2586insA (n.*2585_*2586insA) c.3220_3221insA (p.Gly1074GlufsTer23) c.3841_3842insA (p.Gly1281GlufsTer23) c.3508_3509insA (p.Gly1170GlufsTer23) c.3589_3590insA (p.Gly1197GlufsTer23) n.1082_1083insA c.3607_3608insA (p.Gly1203GlufsTer23) n.3980_3981insA n.707_708insA c.2776_2777insA (p.Gly926GlufsTer23) c.2551_2552insA (p.Gly851GlufsTer23) c.3646_3647insA (p.Gly1216GlufsTer23) c.1619_1620insA c.*942_*943insA (n.*942_*943insA) n.4585_4586insA n.3186_3187insA c.3697_3698insA (p.Gly1233GlufsTer23) c.3745_3746insA (p.Gly1249GlufsTer23) c.3805_3806insA (p.Gly1269GlufsTer23) c.3355_3356insA (p.Gly1119GlufsTer23) c.1657_1658insA (p.Gly553GlufsTer23) c.1474_1475insA (p.Gly492GlufsTer23) c.3706_3707insA (p.Gly1236GlufsTer23) c.3658_3659insA (p.Gly1220GlufsTer23) c.3427_3428insA (p.Gly1143GlufsTer23) c.3328_3329insA (p.Gly1110GlufsTer23) c.2509_2510insA (p.Gly837GlufsTer23) n.4060_4061insA | |
13 | g.51937537_51937538insTT | CA2559077142 | ATP7B | c.*1491_*1492insAA (n.*1491_*1492insAA) c.*2585_*2586insAA (n.*2585_*2586insAA) c.3220_3221insAA (p.Gly1074GlufsTer?) c.3841_3842insAA (p.Gly1281GlufsTer?) c.3508_3509insAA (p.Gly1170GlufsTer?) c.3589_3590insAA (p.Gly1197GlufsTer?) n.1082_1083insAA c.3607_3608insAA (p.Gly1203GlufsTer?) n.3980_3981insAA n.707_708insAA c.2776_2777insAA (p.Gly926GlufsTer?) c.2551_2552insAA (p.Gly851GlufsTer?) c.3646_3647insAA (p.Gly1216GlufsTer?) c.1619_1620insAA c.*942_*943insAA (n.*942_*943insAA) n.4585_4586insAA n.3186_3187insAA c.3697_3698insAA (p.Gly1233GlufsTer?) c.3745_3746insAA (p.Gly1249GlufsTer?) c.3805_3806insAA (p.Gly1269GlufsTer?) c.3355_3356insAA (p.Gly1119GlufsTer?) c.1657_1658insAA (p.Gly553GlufsTer?) c.1474_1475insAA (p.Gly492GlufsTer?) c.3706_3707insAA (p.Gly1236GlufsTer?) c.3658_3659insAA (p.Gly1220GlufsTer?) c.3427_3428insAA (p.Gly1143GlufsTer?) c.3328_3329insAA (p.Gly1110GlufsTer?) c.2509_2510insAA (p.Gly837GlufsTer?) n.4060_4061insAA | |
13 | g.51937538C>A | CA388021731 | ATP7B | c.*1491G>T (n.*1491G>T) c.*2585G>T (n.*2585G>T) c.3220G>T (p.Gly1074Cys) c.3841G>T (p.Gly1281Cys) c.3508G>T (p.Gly1170Cys) c.3589G>T (p.Gly1197Cys) n.1082G>T c.3607G>T (p.Gly1203Cys) n.3980G>T n.707G>T c.2776G>T (p.Gly926Cys) c.2551G>T (p.Gly851Cys) c.3646G>T (p.Gly1216Cys) c.1619G>T c.*942G>T (n.*942G>T) n.4585G>T n.3186G>T c.3697G>T (p.Gly1233Cys) c.3745G>T (p.Gly1249Cys) c.3805G>T (p.Gly1269Cys) c.3355G>T (p.Gly1119Cys) c.1657G>T (p.Gly553Cys) c.1474G>T (p.Gly492Cys) c.3706G>T (p.Gly1236Cys) c.3658G>T (p.Gly1220Cys) c.3427G>T (p.Gly1143Cys) c.3328G>T (p.Gly1110Cys) c.2509G>T (p.Gly837Cys) n.4060G>T | ClinVar dbSNP |
13 | g.51937538C= | CA2091553927 | ATP7B | c.*1491G= (n.*1491G=) c.*2585G= (n.*2585G=) c.3220G= (p.Gly1074=) c.3841G= (p.Gly1281=) c.3508G= (p.Gly1170=) c.3589G= (p.Gly1197=) n.1082G= c.3607G= (p.Gly1203=) n.3980G= n.707G= c.2776G= (p.Gly926=) c.2551G= (p.Gly851=) c.3646G= (p.Gly1216=) c.1619G= c.*942G= (n.*942G=) n.4585G= n.3186G= c.3697G= (p.Gly1233=) c.3745G= (p.Gly1249=) c.3805G= (p.Gly1269=) c.3355G= (p.Gly1119=) c.1657G= (p.Gly553=) c.1474G= (p.Gly492=) c.3706G= (p.Gly1236=) c.3658G= (p.Gly1220=) c.3427G= (p.Gly1143=) c.3328G= (p.Gly1110=) c.2509G= (p.Gly837=) n.4060G= | |
13 | g.51937538C>G | CA388021735 | ATP7B | c.*1491G>C (n.*1491G>C) c.*2585G>C (n.*2585G>C) c.3220G>C (p.Gly1074Arg) c.3841G>C (p.Gly1281Arg) c.3508G>C (p.Gly1170Arg) c.3589G>C (p.Gly1197Arg) n.1082G>C c.3607G>C (p.Gly1203Arg) n.3980G>C n.707G>C c.2776G>C (p.Gly926Arg) c.2551G>C (p.Gly851Arg) c.3646G>C (p.Gly1216Arg) c.1619G>C c.*942G>C (n.*942G>C) n.4585G>C n.3186G>C c.3697G>C (p.Gly1233Arg) c.3745G>C (p.Gly1249Arg) c.3805G>C (p.Gly1269Arg) c.3355G>C (p.Gly1119Arg) c.1657G>C (p.Gly553Arg) c.1474G>C (p.Gly492Arg) c.3706G>C (p.Gly1236Arg) c.3658G>C (p.Gly1220Arg) c.3427G>C (p.Gly1143Arg) c.3328G>C (p.Gly1110Arg) c.2509G>C (p.Gly837Arg) n.4060G>C | |
13 | g.51937538C>T | CA388021734 | ATP7B | c.*1491G>A (n.*1491G>A) c.*2585G>A (n.*2585G>A) c.3220G>A (p.Gly1074Ser) c.3841G>A (p.Gly1281Ser) c.3508G>A (p.Gly1170Ser) c.3589G>A (p.Gly1197Ser) n.1082G>A c.3607G>A (p.Gly1203Ser) n.3980G>A n.707G>A c.2776G>A (p.Gly926Ser) c.2551G>A (p.Gly851Ser) c.3646G>A (p.Gly1216Ser) c.1619G>A c.*942G>A (n.*942G>A) n.4585G>A n.3186G>A c.3697G>A (p.Gly1233Ser) c.3745G>A (p.Gly1249Ser) c.3805G>A (p.Gly1269Ser) c.3355G>A (p.Gly1119Ser) c.1657G>A (p.Gly553Ser) c.1474G>A (p.Gly492Ser) c.3706G>A (p.Gly1236Ser) c.3658G>A (p.Gly1220Ser) c.3427G>A (p.Gly1143Ser) c.3328G>A (p.Gly1110Ser) c.2509G>A (p.Gly837Ser) n.4060G>A | |
13 | g.51937538_51937539insA | CA2540923280 | ATP7B | c.*1490_*1491insT (n.*1490_*1491insT) c.*2584_*2585insT (n.*2584_*2585insT) c.3219_3220insT (p.Gly1074TrpfsTer23) c.3840_3841insT (p.Gly1281TrpfsTer23) c.3507_3508insT (p.Gly1170TrpfsTer23) c.3588_3589insT (p.Gly1197TrpfsTer23) n.1081_1082insT c.3606_3607insT (p.Gly1203TrpfsTer23) n.3979_3980insT n.706_707insT c.2775_2776insT (p.Gly926TrpfsTer23) c.2550_2551insT (p.Gly851TrpfsTer23) c.3645_3646insT (p.Gly1216TrpfsTer23) c.1618_1619insT c.*941_*942insT (n.*941_*942insT) n.4584_4585insT n.3185_3186insT c.3696_3697insT (p.Gly1233TrpfsTer23) c.3744_3745insT (p.Gly1249TrpfsTer23) c.3804_3805insT (p.Gly1269TrpfsTer23) c.3354_3355insT (p.Gly1119TrpfsTer23) c.1656_1657insT (p.Gly553TrpfsTer23) c.1473_1474insT (p.Gly492TrpfsTer23) c.3705_3706insT (p.Gly1236TrpfsTer23) c.3657_3658insT (p.Gly1220TrpfsTer23) c.3426_3427insT (p.Gly1143TrpfsTer23) c.3327_3328insT (p.Gly1110TrpfsTer23) c.2508_2509insT (p.Gly837TrpfsTer23) n.4059_4060insT | |
13 | g.51937539C>A | CA388021736 | ATP7B | c.*1490G>T (n.*1490G>T) c.*2584G>T (n.*2584G>T) c.3219G>T (p.Met1073Ile) c.3840G>T (p.Met1280Ile) c.3507G>T (p.Met1169Ile) c.3588G>T (p.Met1196Ile) n.1081G>T c.3606G>T (p.Met1202Ile) n.3979G>T n.706G>T c.2775G>T (p.Met925Ile) c.2550G>T (p.Met850Ile) c.3645G>T (p.Met1215Ile) c.1618G>T c.*941G>T (n.*941G>T) n.4584G>T n.3185G>T c.3696G>T (p.Met1232Ile) c.3744G>T (p.Met1248Ile) c.3804G>T (p.Met1268Ile) c.3354G>T (p.Met1118Ile) c.1656G>T (p.Met552Ile) c.1473G>T (p.Met491Ile) c.3705G>T (p.Met1235Ile) c.3657G>T (p.Met1219Ile) c.3426G>T (p.Met1142Ile) c.3327G>T (p.Met1109Ile) c.2508G>T (p.Met836Ile) n.4059G>T | |
13 | g.51937539C>G | CA388021738 | ATP7B | c.*1490G>C (n.*1490G>C) c.*2584G>C (n.*2584G>C) c.3219G>C (p.Met1073Ile) c.3840G>C (p.Met1280Ile) c.3507G>C (p.Met1169Ile) c.3588G>C (p.Met1196Ile) n.1081G>C c.3606G>C (p.Met1202Ile) n.3979G>C n.706G>C c.2775G>C (p.Met925Ile) c.2550G>C (p.Met850Ile) c.3645G>C (p.Met1215Ile) c.1618G>C c.*941G>C (n.*941G>C) n.4584G>C n.3185G>C c.3696G>C (p.Met1232Ile) c.3744G>C (p.Met1248Ile) c.3804G>C (p.Met1268Ile) c.3354G>C (p.Met1118Ile) c.1656G>C (p.Met552Ile) c.1473G>C (p.Met491Ile) c.3705G>C (p.Met1235Ile) c.3657G>C (p.Met1219Ile) c.3426G>C (p.Met1142Ile) c.3327G>C (p.Met1109Ile) c.2508G>C (p.Met836Ile) n.4059G>C | |
13 | g.51937539C>T | CA388021737 | ATP7B | c.*1490G>A (n.*1490G>A) c.*2584G>A (n.*2584G>A) c.3219G>A (p.Met1073Ile) c.3840G>A (p.Met1280Ile) c.3507G>A (p.Met1169Ile) c.3588G>A (p.Met1196Ile) n.1081G>A c.3606G>A (p.Met1202Ile) n.3979G>A n.706G>A c.2775G>A (p.Met925Ile) c.2550G>A (p.Met850Ile) c.3645G>A (p.Met1215Ile) c.1618G>A c.*941G>A (n.*941G>A) n.4584G>A n.3185G>A c.3696G>A (p.Met1232Ile) c.3744G>A (p.Met1248Ile) c.3804G>A (p.Met1268Ile) c.3354G>A (p.Met1118Ile) c.1656G>A (p.Met552Ile) c.1473G>A (p.Met491Ile) c.3705G>A (p.Met1235Ile) c.3657G>A (p.Met1219Ile) c.3426G>A (p.Met1142Ile) c.3327G>A (p.Met1109Ile) c.2508G>A (p.Met836Ile) n.4059G>A | COSMIC |
13 | g.51937539_51937540insGTA | CA2695218756 | ATP7B | c.*1489_*1490insTAC (n.*1489_*1490insTAC) c.*2583_*2584insTAC (n.*2583_*2584insTAC) c.3218_3219insTAC (p.Met1073delinsIleThr) c.3839_3840insTAC (p.Met1280delinsIleThr) c.3506_3507insTAC (p.Met1169delinsIleThr) c.3587_3588insTAC (p.Met1196delinsIleThr) n.1080_1081insTAC c.3605_3606insTAC (p.Met1202delinsIleThr) n.3978_3979insTAC n.705_706insTAC c.2774_2775insTAC (p.Met925delinsIleThr) c.2549_2550insTAC (p.Met850delinsIleThr) c.3644_3645insTAC (p.Met1215delinsIleThr) c.1617_1618insTAC c.*940_*941insTAC (n.*940_*941insTAC) n.4583_4584insTAC n.3184_3185insTAC c.3695_3696insTAC (p.Met1232delinsIleThr) c.3743_3744insTAC (p.Met1248delinsIleThr) c.3803_3804insTAC (p.Met1268delinsIleThr) c.3353_3354insTAC (p.Met1118delinsIleThr) c.1655_1656insTAC (p.Met552delinsIleThr) c.1472_1473insTAC (p.Met491delinsIleThr) c.3704_3705insTAC (p.Met1235delinsIleThr) c.3656_3657insTAC (p.Met1219delinsIleThr) c.3425_3426insTAC (p.Met1142delinsIleThr) c.3326_3327insTAC (p.Met1109delinsIleThr) c.2507_2508insTAC (p.Met836delinsIleThr) n.4058_4059insTAC | |
13 | g.51937540A>C | CA388021741 | ATP7B | c.*1489T>G (n.*1489T>G) c.*2583T>G (n.*2583T>G) c.3218T>G (p.Met1073Arg) c.3839T>G (p.Met1280Arg) c.3506T>G (p.Met1169Arg) c.3587T>G (p.Met1196Arg) n.1080T>G c.3605T>G (p.Met1202Arg) n.3978T>G n.705T>G c.2774T>G (p.Met925Arg) c.2549T>G (p.Met850Arg) c.3644T>G (p.Met1215Arg) c.1617T>G c.*940T>G (n.*940T>G) n.4583T>G n.3184T>G c.3695T>G (p.Met1232Arg) c.3743T>G (p.Met1248Arg) c.3803T>G (p.Met1268Arg) c.3353T>G (p.Met1118Arg) c.1655T>G (p.Met552Arg) c.1472T>G (p.Met491Arg) c.3704T>G (p.Met1235Arg) c.3656T>G (p.Met1219Arg) c.3425T>G (p.Met1142Arg) c.3326T>G (p.Met1109Arg) c.2507T>G (p.Met836Arg) n.4058T>G | |
13 | g.51937540A>G | CA388021742 | ATP7B | c.*1489T>C (n.*1489T>C) c.*2583T>C (n.*2583T>C) c.3218T>C (p.Met1073Thr) c.3839T>C (p.Met1280Thr) c.3506T>C (p.Met1169Thr) c.3587T>C (p.Met1196Thr) n.1080T>C c.3605T>C (p.Met1202Thr) n.3978T>C n.705T>C c.2774T>C (p.Met925Thr) c.2549T>C (p.Met850Thr) c.3644T>C (p.Met1215Thr) c.1617T>C c.*940T>C (n.*940T>C) n.4583T>C n.3184T>C c.3695T>C (p.Met1232Thr) c.3743T>C (p.Met1248Thr) c.3803T>C (p.Met1268Thr) c.3353T>C (p.Met1118Thr) c.1655T>C (p.Met552Thr) c.1472T>C (p.Met491Thr) c.3704T>C (p.Met1235Thr) c.3656T>C (p.Met1219Thr) c.3425T>C (p.Met1142Thr) c.3326T>C (p.Met1109Thr) c.2507T>C (p.Met836Thr) n.4058T>C | |
13 | g.51937540A>T | CA388021746 | ATP7B | c.*1489T>A (n.*1489T>A) c.*2583T>A (n.*2583T>A) c.3218T>A (p.Met1073Lys) c.3839T>A (p.Met1280Lys) c.3506T>A (p.Met1169Lys) c.3587T>A (p.Met1196Lys) n.1080T>A c.3605T>A (p.Met1202Lys) n.3978T>A n.705T>A c.2774T>A (p.Met925Lys) c.2549T>A (p.Met850Lys) c.3644T>A (p.Met1215Lys) c.1617T>A c.*940T>A (n.*940T>A) n.4583T>A n.3184T>A c.3695T>A (p.Met1232Lys) c.3743T>A (p.Met1248Lys) c.3803T>A (p.Met1268Lys) c.3353T>A (p.Met1118Lys) c.1655T>A (p.Met552Lys) c.1472T>A (p.Met491Lys) c.3704T>A (p.Met1235Lys) c.3656T>A (p.Met1219Lys) c.3425T>A (p.Met1142Lys) c.3326T>A (p.Met1109Lys) c.2507T>A (p.Met836Lys) n.4058T>A | |
13 | g.51937540_51937541del | CA484024312 | ATP7B | c.*1488_*1489del (n.*1488_*1489del) c.*2582_*2583del (n.*2582_*2583del) c.3217_3218del (p.Met1073GlyfsTer23) c.3838_3839del (p.Met1280GlyfsTer23) c.3505_3506del (p.Met1169GlyfsTer23) c.3586_3587del (p.Met1196GlyfsTer23) n.1079_1080del c.3604_3605del (p.Met1202GlyfsTer23) n.3977_3978del n.704_705del c.2773_2774del (p.Met925GlyfsTer23) c.2548_2549del (p.Met850GlyfsTer23) c.3643_3644del (p.Met1215GlyfsTer23) c.1616_1617del c.*939_*940del (n.*939_*940del) n.4582_4583del n.3183_3184del c.3694_3695del (p.Met1232GlyfsTer23) c.3742_3743del (p.Met1248GlyfsTer23) c.3802_3803del (p.Met1268GlyfsTer23) c.3352_3353del (p.Met1118GlyfsTer23) c.1654_1655del (p.Met552GlyfsTer23) c.1471_1472del (p.Met491GlyfsTer23) c.3703_3704del (p.Met1235GlyfsTer23) c.3655_3656del (p.Met1219GlyfsTer23) c.3424_3425del (p.Met1142GlyfsTer23) c.3325_3326del (p.Met1109GlyfsTer23) c.2506_2507del (p.Met836GlyfsTer23) n.4057_4058del | gnomAD v4 |
13 | g.51937541T>A | CA388021749 | ATP7B | c.*1488A>T (n.*1488A>T) c.*2582A>T (n.*2582A>T) c.3217A>T (p.Met1073Leu) c.3838A>T (p.Met1280Leu) c.3505A>T (p.Met1169Leu) c.3586A>T (p.Met1196Leu) n.1079A>T c.3604A>T (p.Met1202Leu) n.3977A>T n.704A>T c.2773A>T (p.Met925Leu) c.2548A>T (p.Met850Leu) c.3643A>T (p.Met1215Leu) c.1616A>T c.*939A>T (n.*939A>T) n.4582A>T n.3183A>T c.3694A>T (p.Met1232Leu) c.3742A>T (p.Met1248Leu) c.3802A>T (p.Met1268Leu) c.3352A>T (p.Met1118Leu) c.1654A>T (p.Met552Leu) c.1471A>T (p.Met491Leu) c.3703A>T (p.Met1235Leu) c.3655A>T (p.Met1219Leu) c.3424A>T (p.Met1142Leu) c.3325A>T (p.Met1109Leu) c.2506A>T (p.Met836Leu) n.4057A>T | |
13 | g.51937541T>C | CA388021751 | ATP7B | c.*1488A>G (n.*1488A>G) c.*2582A>G (n.*2582A>G) c.3217A>G (p.Met1073Val) c.3838A>G (p.Met1280Val) c.3505A>G (p.Met1169Val) c.3586A>G (p.Met1196Val) n.1079A>G c.3604A>G (p.Met1202Val) n.3977A>G n.704A>G c.2773A>G (p.Met925Val) c.2548A>G (p.Met850Val) c.3643A>G (p.Met1215Val) c.1616A>G c.*939A>G (n.*939A>G) n.4582A>G n.3183A>G c.3694A>G (p.Met1232Val) c.3742A>G (p.Met1248Val) c.3802A>G (p.Met1268Val) c.3352A>G (p.Met1118Val) c.1654A>G (p.Met552Val) c.1471A>G (p.Met491Val) c.3703A>G (p.Met1235Val) c.3655A>G (p.Met1219Val) c.3424A>G (p.Met1142Val) c.3325A>G (p.Met1109Val) c.2506A>G (p.Met836Val) n.4057A>G | |
13 | g.51937541T>G | CA388021756 | ATP7B | c.*1488A>C (n.*1488A>C) c.*2582A>C (n.*2582A>C) c.3217A>C (p.Met1073Leu) c.3838A>C (p.Met1280Leu) c.3505A>C (p.Met1169Leu) c.3586A>C (p.Met1196Leu) n.1079A>C c.3604A>C (p.Met1202Leu) n.3977A>C n.704A>C c.2773A>C (p.Met925Leu) c.2548A>C (p.Met850Leu) c.3643A>C (p.Met1215Leu) c.1616A>C c.*939A>C (n.*939A>C) n.4582A>C n.3183A>C c.3694A>C (p.Met1232Leu) c.3742A>C (p.Met1248Leu) c.3802A>C (p.Met1268Leu) c.3352A>C (p.Met1118Leu) c.1654A>C (p.Met552Leu) c.1471A>C (p.Met491Leu) c.3703A>C (p.Met1235Leu) c.3655A>C (p.Met1219Leu) c.3424A>C (p.Met1142Leu) c.3325A>C (p.Met1109Leu) c.2506A>C (p.Met836Leu) n.4057A>C | |
13 | g.51937542del | CA2560735406 | ATP7B | c.*1487del (n.*1487del) c.*2581del (n.*2581del) c.3216del (p.Asp1072GlufsTer?) c.3837del (p.Asp1279GlufsTer?) c.3504del (p.Asp1168GlufsTer?) c.3585del (p.Asp1195GlufsTer?) n.1078del c.3603del (p.Asp1201GlufsTer?) n.3976del n.703del c.2772del (p.Asp924GlufsTer?) c.2547del (p.Asp849GlufsTer?) c.3642del (p.Asp1214GlufsTer?) c.1615del c.*938del (n.*938del) n.4581del n.3182del c.3693del (p.Asp1231GlufsTer?) c.3741del (p.Asp1247GlufsTer?) c.3801del (p.Asp1267GlufsTer?) c.3351del (p.Asp1117GlufsTer?) c.1653del (p.Asp551GlufsTer?) c.1470del (p.Asp490GlufsTer?) c.3702del (p.Asp1234GlufsTer?) c.3654del (p.Asp1218GlufsTer?) c.3423del (p.Asp1141GlufsTer?) c.3324del (p.Asp1108GlufsTer?) c.2505del (p.Asp835GlufsTer?) n.4056del | |
13 | g.51937542G>A | CA484024313 | ATP7B | c.*1487C>T (n.*1487C>T) c.*2581C>T (n.*2581C>T) c.3216C>T (p.Asp1072=) c.3837C>T (p.Asp1279=) c.3504C>T (p.Asp1168=) c.3585C>T (p.Asp1195=) n.1078C>T c.3603C>T (p.Asp1201=) n.3976C>T n.703C>T c.2772C>T (p.Asp924=) c.2547C>T (p.Asp849=) c.3642C>T (p.Asp1214=) c.1615C>T c.*938C>T (n.*938C>T) n.4581C>T n.3182C>T c.3693C>T (p.Asp1231=) c.3741C>T (p.Asp1247=) c.3801C>T (p.Asp1267=) c.3351C>T (p.Asp1117=) c.1653C>T (p.Asp551=) c.1470C>T (p.Asp490=) c.3702C>T (p.Asp1234=) c.3654C>T (p.Asp1218=) c.3423C>T (p.Asp1141=) c.3324C>T (p.Asp1108=) c.2505C>T (p.Asp835=) n.4056C>T | |
13 | g.51937542G>C | CA388021769 | ATP7B | c.*1487C>G (n.*1487C>G) c.*2581C>G (n.*2581C>G) c.3216C>G (p.Asp1072Glu) c.3837C>G (p.Asp1279Glu) c.3504C>G (p.Asp1168Glu) c.3585C>G (p.Asp1195Glu) n.1078C>G c.3603C>G (p.Asp1201Glu) n.3976C>G n.703C>G c.2772C>G (p.Asp924Glu) c.2547C>G (p.Asp849Glu) c.3642C>G (p.Asp1214Glu) c.1615C>G c.*938C>G (n.*938C>G) n.4581C>G n.3182C>G c.3693C>G (p.Asp1231Glu) c.3741C>G (p.Asp1247Glu) c.3801C>G (p.Asp1267Glu) c.3351C>G (p.Asp1117Glu) c.1653C>G (p.Asp551Glu) c.1470C>G (p.Asp490Glu) c.3702C>G (p.Asp1234Glu) c.3654C>G (p.Asp1218Glu) c.3423C>G (p.Asp1141Glu) c.3324C>G (p.Asp1108Glu) c.2505C>G (p.Asp835Glu) n.4056C>G | |
13 | g.51937542G>T | CA388021765 | ATP7B | c.*1487C>A (n.*1487C>A) c.*2581C>A (n.*2581C>A) c.3216C>A (p.Asp1072Glu) c.3837C>A (p.Asp1279Glu) c.3504C>A (p.Asp1168Glu) c.3585C>A (p.Asp1195Glu) n.1078C>A c.3603C>A (p.Asp1201Glu) n.3976C>A n.703C>A c.2772C>A (p.Asp924Glu) c.2547C>A (p.Asp849Glu) c.3642C>A (p.Asp1214Glu) c.1615C>A c.*938C>A (n.*938C>A) n.4581C>A n.3182C>A c.3693C>A (p.Asp1231Glu) c.3741C>A (p.Asp1247Glu) c.3801C>A (p.Asp1267Glu) c.3351C>A (p.Asp1117Glu) c.1653C>A (p.Asp551Glu) c.1470C>A (p.Asp490Glu) c.3702C>A (p.Asp1234Glu) c.3654C>A (p.Asp1218Glu) c.3423C>A (p.Asp1141Glu) c.3324C>A (p.Asp1108Glu) c.2505C>A (p.Asp835Glu) n.4056C>A | |
13 | g.51937542_51937544del | CA2537018413 | ATP7B | c.*1485_*1487del (n.*1485_*1487del) c.*2579_*2581del (n.*2579_*2581del) c.3214_3216del (p.Asp1072del) c.3835_3837del (p.Asp1279del) c.3502_3504del (p.Asp1168del) c.3583_3585del (p.Asp1195del) n.1076_1078del c.3601_3603del (p.Asp1201del) n.3974_3976del n.701_703del c.2770_2772del (p.Asp924del) c.2545_2547del (p.Asp849del) c.3640_3642del (p.Asp1214del) c.1613_1615del c.*936_*938del (n.*936_*938del) n.4579_4581del n.3180_3182del c.3691_3693del (p.Asp1231del) c.3739_3741del (p.Asp1247del) c.3799_3801del (p.Asp1267del) c.3349_3351del (p.Asp1117del) c.1651_1653del (p.Asp551del) c.1468_1470del (p.Asp490del) c.3700_3702del (p.Asp1234del) c.3652_3654del (p.Asp1218del) c.3421_3423del (p.Asp1141del) c.3322_3324del (p.Asp1108del) c.2503_2505del (p.Asp835del) n.4054_4056del | |
13 | g.51937543T>A | CA388021771 | ATP7B | c.*1486A>T (n.*1486A>T) c.*2580A>T (n.*2580A>T) c.3215A>T (p.Asp1072Val) c.3836A>T (p.Asp1279Val) c.3503A>T (p.Asp1168Val) c.3584A>T (p.Asp1195Val) n.1077A>T c.3602A>T (p.Asp1201Val) n.3975A>T n.702A>T c.2771A>T (p.Asp924Val) c.2546A>T (p.Asp849Val) c.3641A>T (p.Asp1214Val) c.1614A>T c.*937A>T (n.*937A>T) n.4580A>T n.3181A>T c.3692A>T (p.Asp1231Val) c.3740A>T (p.Asp1247Val) c.3800A>T (p.Asp1267Val) c.3350A>T (p.Asp1117Val) c.1652A>T (p.Asp551Val) c.1469A>T (p.Asp490Val) c.3701A>T (p.Asp1234Val) c.3653A>T (p.Asp1218Val) c.3422A>T (p.Asp1141Val) c.3323A>T (p.Asp1108Val) c.2504A>T (p.Asp835Val) n.4055A>T | |
13 | g.51937543T>C | CA6988563 | ATP7B | c.*1486A>G (n.*1486A>G) c.*2580A>G (n.*2580A>G) c.3215A>G (p.Asp1072Gly) c.3836A>G (p.Asp1279Gly) c.3503A>G (p.Asp1168Gly) c.3584A>G (p.Asp1195Gly) n.1077A>G c.3602A>G (p.Asp1201Gly) n.3975A>G n.702A>G c.2771A>G (p.Asp924Gly) c.2546A>G (p.Asp849Gly) c.3641A>G (p.Asp1214Gly) c.1614A>G c.*937A>G (n.*937A>G) n.4580A>G n.3181A>G c.3692A>G (p.Asp1231Gly) c.3740A>G (p.Asp1247Gly) c.3800A>G (p.Asp1267Gly) c.3350A>G (p.Asp1117Gly) c.1652A>G (p.Asp551Gly) c.1469A>G (p.Asp490Gly) c.3701A>G (p.Asp1234Gly) c.3653A>G (p.Asp1218Gly) c.3422A>G (p.Asp1141Gly) c.3323A>G (p.Asp1108Gly) c.2504A>G (p.Asp835Gly) n.4055A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937543T>G | CA388021774 | ATP7B | c.*1486A>C (n.*1486A>C) c.*2580A>C (n.*2580A>C) c.3215A>C (p.Asp1072Ala) c.3836A>C (p.Asp1279Ala) c.3503A>C (p.Asp1168Ala) c.3584A>C (p.Asp1195Ala) n.1077A>C c.3602A>C (p.Asp1201Ala) n.3975A>C n.702A>C c.2771A>C (p.Asp924Ala) c.2546A>C (p.Asp849Ala) c.3641A>C (p.Asp1214Ala) c.1614A>C c.*937A>C (n.*937A>C) n.4580A>C n.3181A>C c.3692A>C (p.Asp1231Ala) c.3740A>C (p.Asp1247Ala) c.3800A>C (p.Asp1267Ala) c.3350A>C (p.Asp1117Ala) c.1652A>C (p.Asp551Ala) c.1469A>C (p.Asp490Ala) c.3701A>C (p.Asp1234Ala) c.3653A>C (p.Asp1218Ala) c.3422A>C (p.Asp1141Ala) c.3323A>C (p.Asp1108Ala) c.2504A>C (p.Asp835Ala) n.4055A>C | dbSNP |
13 | g.51937543T= | CA2091553932 | ATP7B | c.*1486A= (n.*1486A=) c.*2580A= (n.*2580A=) c.3215A= (p.Asp1072=) c.3836A= (p.Asp1279=) c.3503A= (p.Asp1168=) c.3584A= (p.Asp1195=) n.1077A= c.3602A= (p.Asp1201=) n.3975A= n.702A= c.2771A= (p.Asp924=) c.2546A= (p.Asp849=) c.3641A= (p.Asp1214=) c.1614A= c.*937A= (n.*937A=) n.4580A= n.3181A= c.3692A= (p.Asp1231=) c.3740A= (p.Asp1247=) c.3800A= (p.Asp1267=) c.3350A= (p.Asp1117=) c.1652A= (p.Asp551=) c.1469A= (p.Asp490=) c.3701A= (p.Asp1234=) c.3653A= (p.Asp1218=) c.3422A= (p.Asp1141=) c.3323A= (p.Asp1108=) c.2504A= (p.Asp835=) n.4055A= | |
13 | g.51937543dup | CA2580614734 | ATP7B | c.*1486dup (n.*1486dup) c.*2580dup (n.*2580dup) c.3215dup (p.Asp1072GlufsTer25) c.3836dup (p.Asp1279GlufsTer25) c.3503dup (p.Asp1168GlufsTer25) c.3584dup (p.Asp1195GlufsTer25) n.1077dup c.3602dup (p.Asp1201GlufsTer25) n.3975dup n.702dup c.2771dup (p.Asp924GlufsTer25) c.2546dup (p.Asp849GlufsTer25) c.3641dup (p.Asp1214GlufsTer25) c.1614dup c.*937dup (n.*937dup) n.4580dup n.3181dup c.3692dup (p.Asp1231GlufsTer25) c.3740dup (p.Asp1247GlufsTer25) c.3800dup (p.Asp1267GlufsTer25) c.3350dup (p.Asp1117GlufsTer25) c.1652dup (p.Asp551GlufsTer25) c.1469dup (p.Asp490GlufsTer25) c.3701dup (p.Asp1234GlufsTer25) c.3653dup (p.Asp1218GlufsTer25) c.3422dup (p.Asp1141GlufsTer25) c.3323dup (p.Asp1108GlufsTer25) c.2504dup (p.Asp835GlufsTer25) n.4055dup | ClinVar |
13 | g.51937544C>A | CA388021779 | ATP7B | c.*1485G>T (n.*1485G>T) c.*2579G>T (n.*2579G>T) c.3214G>T (p.Asp1072Tyr) c.3835G>T (p.Asp1279Tyr) c.3502G>T (p.Asp1168Tyr) c.3583G>T (p.Asp1195Tyr) n.1076G>T c.3601G>T (p.Asp1201Tyr) n.3974G>T n.701G>T c.2770G>T (p.Asp924Tyr) c.2545G>T (p.Asp849Tyr) c.3640G>T (p.Asp1214Tyr) c.1613G>T c.*936G>T (n.*936G>T) n.4579G>T n.3180G>T c.3691G>T (p.Asp1231Tyr) c.3739G>T (p.Asp1247Tyr) c.3799G>T (p.Asp1267Tyr) c.3349G>T (p.Asp1117Tyr) c.1651G>T (p.Asp551Tyr) c.1468G>T (p.Asp490Tyr) c.3700G>T (p.Asp1234Tyr) c.3652G>T (p.Asp1218Tyr) c.3421G>T (p.Asp1141Tyr) c.3322G>T (p.Asp1108Tyr) c.2503G>T (p.Asp835Tyr) n.4054G>T | |
13 | g.51937544C>G | CA388021782 | ATP7B | c.*1485G>C (n.*1485G>C) c.*2579G>C (n.*2579G>C) c.3214G>C (p.Asp1072His) c.3835G>C (p.Asp1279His) c.3502G>C (p.Asp1168His) c.3583G>C (p.Asp1195His) n.1076G>C c.3601G>C (p.Asp1201His) n.3974G>C n.701G>C c.2770G>C (p.Asp924His) c.2545G>C (p.Asp849His) c.3640G>C (p.Asp1214His) c.1613G>C c.*936G>C (n.*936G>C) n.4579G>C n.3180G>C c.3691G>C (p.Asp1231His) c.3739G>C (p.Asp1247His) c.3799G>C (p.Asp1267His) c.3349G>C (p.Asp1117His) c.1651G>C (p.Asp551His) c.1468G>C (p.Asp490His) c.3700G>C (p.Asp1234His) c.3652G>C (p.Asp1218His) c.3421G>C (p.Asp1141His) c.3322G>C (p.Asp1108His) c.2503G>C (p.Asp835His) n.4054G>C | |
13 | g.51937544C>T | CA388021784 | ATP7B | c.*1485G>A (n.*1485G>A) c.*2579G>A (n.*2579G>A) c.3214G>A (p.Asp1072Asn) c.3835G>A (p.Asp1279Asn) c.3502G>A (p.Asp1168Asn) c.3583G>A (p.Asp1195Asn) n.1076G>A c.3601G>A (p.Asp1201Asn) n.3974G>A n.701G>A c.2770G>A (p.Asp924Asn) c.2545G>A (p.Asp849Asn) c.3640G>A (p.Asp1214Asn) c.1613G>A c.*936G>A (n.*936G>A) n.4579G>A n.3180G>A c.3691G>A (p.Asp1231Asn) c.3739G>A (p.Asp1247Asn) c.3799G>A (p.Asp1267Asn) c.3349G>A (p.Asp1117Asn) c.1651G>A (p.Asp551Asn) c.1468G>A (p.Asp490Asn) c.3700G>A (p.Asp1234Asn) c.3652G>A (p.Asp1218Asn) c.3421G>A (p.Asp1141Asn) c.3322G>A (p.Asp1108Asn) c.2503G>A (p.Asp835Asn) n.4054G>A | |
13 | g.51937545del | CA2548239757 | ATP7B | c.*1484del (n.*1484del) c.*2578del (n.*2578del) c.3213del (p.Asp1072ThrfsTer?) c.3834del (p.Asp1279ThrfsTer?) c.3501del (p.Asp1168ThrfsTer?) c.3582del (p.Asp1195ThrfsTer?) n.1075del c.3600del (p.Asp1201ThrfsTer?) n.3973del n.700del c.2769del (p.Asp924ThrfsTer?) c.2544del (p.Asp849ThrfsTer?) c.3639del (p.Asp1214ThrfsTer?) c.1612del c.*935del (n.*935del) n.4578del n.3179del c.3690del (p.Asp1231ThrfsTer?) c.3738del (p.Asp1247ThrfsTer?) c.3798del (p.Asp1267ThrfsTer?) c.3348del (p.Asp1117ThrfsTer?) c.1650del (p.Asp551ThrfsTer?) c.1467del (p.Asp490ThrfsTer?) c.3699del (p.Asp1234ThrfsTer?) c.3651del (p.Asp1218ThrfsTer?) c.3420del (p.Asp1141ThrfsTer?) c.3321del (p.Asp1108ThrfsTer?) c.2502del (p.Asp835ThrfsTer?) n.4053del | |
13 | g.51937545T>A | CA484024314 | ATP7B | c.*1484A>T (n.*1484A>T) c.*2578A>T (n.*2578A>T) c.3213A>T (p.Ala1071=) c.3834A>T (p.Ala1278=) c.3501A>T (p.Ala1167=) c.3582A>T (p.Ala1194=) n.1075A>T c.3600A>T (p.Ala1200=) n.3973A>T n.700A>T c.2769A>T (p.Ala923=) c.2544A>T (p.Ala848=) c.3639A>T (p.Ala1213=) c.1612A>T c.*935A>T (n.*935A>T) n.4578A>T n.3179A>T c.3690A>T (p.Ala1230=) c.3738A>T (p.Ala1246=) c.3798A>T (p.Ala1266=) c.3348A>T (p.Ala1116=) c.1650A>T (p.Ala550=) c.1467A>T (p.Ala489=) c.3699A>T (p.Ala1233=) c.3651A>T (p.Ala1217=) c.3420A>T (p.Ala1140=) c.3321A>T (p.Ala1107=) c.2502A>T (p.Ala834=) n.4053A>T | |
13 | g.51937545T>C | CA484024315 | ATP7B | c.*1484A>G (n.*1484A>G) c.*2578A>G (n.*2578A>G) c.3213A>G (p.Ala1071=) c.3834A>G (p.Ala1278=) c.3501A>G (p.Ala1167=) c.3582A>G (p.Ala1194=) n.1075A>G c.3600A>G (p.Ala1200=) n.3973A>G n.700A>G c.2769A>G (p.Ala923=) c.2544A>G (p.Ala848=) c.3639A>G (p.Ala1213=) c.1612A>G c.*935A>G (n.*935A>G) n.4578A>G n.3179A>G c.3690A>G (p.Ala1230=) c.3738A>G (p.Ala1246=) c.3798A>G (p.Ala1266=) c.3348A>G (p.Ala1116=) c.1650A>G (p.Ala550=) c.1467A>G (p.Ala489=) c.3699A>G (p.Ala1233=) c.3651A>G (p.Ala1217=) c.3420A>G (p.Ala1140=) c.3321A>G (p.Ala1107=) c.2502A>G (p.Ala834=) n.4053A>G | ClinVar |
13 | g.51937545T>G | CA484024316 | ATP7B | c.*1484A>C (n.*1484A>C) c.*2578A>C (n.*2578A>C) c.3213A>C (p.Ala1071=) c.3834A>C (p.Ala1278=) c.3501A>C (p.Ala1167=) c.3582A>C (p.Ala1194=) n.1075A>C c.3600A>C (p.Ala1200=) n.3973A>C n.700A>C c.2769A>C (p.Ala923=) c.2544A>C (p.Ala848=) c.3639A>C (p.Ala1213=) c.1612A>C c.*935A>C (n.*935A>C) n.4578A>C n.3179A>C c.3690A>C (p.Ala1230=) c.3738A>C (p.Ala1246=) c.3798A>C (p.Ala1266=) c.3348A>C (p.Ala1116=) c.1650A>C (p.Ala550=) c.1467A>C (p.Ala489=) c.3699A>C (p.Ala1233=) c.3651A>C (p.Ala1217=) c.3420A>C (p.Ala1140=) c.3321A>C (p.Ala1107=) c.2502A>C (p.Ala834=) n.4053A>C | |
13 | g.51937546G>A | CA388021788 | ATP7B | c.*1483C>T (n.*1483C>T) c.*2577C>T (n.*2577C>T) c.3212C>T (p.Ala1071Val) c.3833C>T (p.Ala1278Val) c.3500C>T (p.Ala1167Val) c.3581C>T (p.Ala1194Val) n.1074C>T c.3599C>T (p.Ala1200Val) n.3972C>T n.699C>T c.2768C>T (p.Ala923Val) c.2543C>T (p.Ala848Val) c.3638C>T (p.Ala1213Val) c.1611C>T c.*934C>T (n.*934C>T) n.4577C>T n.3178C>T c.3689C>T (p.Ala1230Val) c.3737C>T (p.Ala1246Val) c.3797C>T (p.Ala1266Val) c.3347C>T (p.Ala1116Val) c.1649C>T (p.Ala550Val) c.1466C>T (p.Ala489Val) c.3698C>T (p.Ala1233Val) c.3650C>T (p.Ala1217Val) c.3419C>T (p.Ala1140Val) c.3320C>T (p.Ala1107Val) c.2501C>T (p.Ala834Val) n.4052C>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937546G>C | CA388021791 | ATP7B | c.*1483C>G (n.*1483C>G) c.*2577C>G (n.*2577C>G) c.3212C>G (p.Ala1071Gly) c.3833C>G (p.Ala1278Gly) c.3500C>G (p.Ala1167Gly) c.3581C>G (p.Ala1194Gly) n.1074C>G c.3599C>G (p.Ala1200Gly) n.3972C>G n.699C>G c.2768C>G (p.Ala923Gly) c.2543C>G (p.Ala848Gly) c.3638C>G (p.Ala1213Gly) c.1611C>G c.*934C>G (n.*934C>G) n.4577C>G n.3178C>G c.3689C>G (p.Ala1230Gly) c.3737C>G (p.Ala1246Gly) c.3797C>G (p.Ala1266Gly) c.3347C>G (p.Ala1116Gly) c.1649C>G (p.Ala550Gly) c.1466C>G (p.Ala489Gly) c.3698C>G (p.Ala1233Gly) c.3650C>G (p.Ala1217Gly) c.3419C>G (p.Ala1140Gly) c.3320C>G (p.Ala1107Gly) c.2501C>G (p.Ala834Gly) n.4052C>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937546G= | CA2091553946 | ATP7B | c.*1483C= (n.*1483C=) c.*2577C= (n.*2577C=) c.3212C= (p.Ala1071=) c.3833C= (p.Ala1278=) c.3500C= (p.Ala1167=) c.3581C= (p.Ala1194=) n.1074C= c.3599C= (p.Ala1200=) n.3972C= n.699C= c.2768C= (p.Ala923=) c.2543C= (p.Ala848=) c.3638C= (p.Ala1213=) c.1611C= c.*934C= (n.*934C=) n.4577C= n.3178C= c.3689C= (p.Ala1230=) c.3737C= (p.Ala1246=) c.3797C= (p.Ala1266=) c.3347C= (p.Ala1116=) c.1649C= (p.Ala550=) c.1466C= (p.Ala489=) c.3698C= (p.Ala1233=) c.3650C= (p.Ala1217=) c.3419C= (p.Ala1140=) c.3320C= (p.Ala1107=) c.2501C= (p.Ala834=) n.4052C= | |
13 | g.51937546G>T | CA388021789 | ATP7B | c.*1483C>A (n.*1483C>A) c.*2577C>A (n.*2577C>A) c.3212C>A (p.Ala1071Glu) c.3833C>A (p.Ala1278Glu) c.3500C>A (p.Ala1167Glu) c.3581C>A (p.Ala1194Glu) n.1074C>A c.3599C>A (p.Ala1200Glu) n.3972C>A n.699C>A c.2768C>A (p.Ala923Glu) c.2543C>A (p.Ala848Glu) c.3638C>A (p.Ala1213Glu) c.1611C>A c.*934C>A (n.*934C>A) n.4577C>A n.3178C>A c.3689C>A (p.Ala1230Glu) c.3737C>A (p.Ala1246Glu) c.3797C>A (p.Ala1266Glu) c.3347C>A (p.Ala1116Glu) c.1649C>A (p.Ala550Glu) c.1466C>A (p.Ala489Glu) c.3698C>A (p.Ala1233Glu) c.3650C>A (p.Ala1217Glu) c.3419C>A (p.Ala1140Glu) c.3320C>A (p.Ala1107Glu) c.2501C>A (p.Ala834Glu) n.4052C>A | |
13 | g.51937547C>A | CA388021794 | ATP7B | c.*1482G>T (n.*1482G>T) c.*2576G>T (n.*2576G>T) c.3211G>T (p.Ala1071Ser) c.3832G>T (p.Ala1278Ser) c.3499G>T (p.Ala1167Ser) c.3580G>T (p.Ala1194Ser) n.1073G>T c.3598G>T (p.Ala1200Ser) n.3971G>T n.698G>T c.2767G>T (p.Ala923Ser) c.2542G>T (p.Ala848Ser) c.3637G>T (p.Ala1213Ser) c.1610G>T c.*933G>T (n.*933G>T) n.4576G>T n.3177G>T c.3688G>T (p.Ala1230Ser) c.3736G>T (p.Ala1246Ser) c.3796G>T (p.Ala1266Ser) c.3346G>T (p.Ala1116Ser) c.1648G>T (p.Ala550Ser) c.1465G>T (p.Ala489Ser) c.3697G>T (p.Ala1233Ser) c.3649G>T (p.Ala1217Ser) c.3418G>T (p.Ala1140Ser) c.3319G>T (p.Ala1107Ser) c.2500G>T (p.Ala834Ser) n.4051G>T | |
13 | g.51937547C>G | CA388021798 | ATP7B | c.*1482G>C (n.*1482G>C) c.*2576G>C (n.*2576G>C) c.3211G>C (p.Ala1071Pro) c.3832G>C (p.Ala1278Pro) c.3499G>C (p.Ala1167Pro) c.3580G>C (p.Ala1194Pro) n.1073G>C c.3598G>C (p.Ala1200Pro) n.3971G>C n.698G>C c.2767G>C (p.Ala923Pro) c.2542G>C (p.Ala848Pro) c.3637G>C (p.Ala1213Pro) c.1610G>C c.*933G>C (n.*933G>C) n.4576G>C n.3177G>C c.3688G>C (p.Ala1230Pro) c.3736G>C (p.Ala1246Pro) c.3796G>C (p.Ala1266Pro) c.3346G>C (p.Ala1116Pro) c.1648G>C (p.Ala550Pro) c.1465G>C (p.Ala489Pro) c.3697G>C (p.Ala1233Pro) c.3649G>C (p.Ala1217Pro) c.3418G>C (p.Ala1140Pro) c.3319G>C (p.Ala1107Pro) c.2500G>C (p.Ala834Pro) n.4051G>C | |
13 | g.51937547C>T | CA388021802 | ATP7B | c.*1482G>A (n.*1482G>A) c.*2576G>A (n.*2576G>A) c.3211G>A (p.Ala1071Thr) c.3832G>A (p.Ala1278Thr) c.3499G>A (p.Ala1167Thr) c.3580G>A (p.Ala1194Thr) n.1073G>A c.3598G>A (p.Ala1200Thr) n.3971G>A n.698G>A c.2767G>A (p.Ala923Thr) c.2542G>A (p.Ala848Thr) c.3637G>A (p.Ala1213Thr) c.1610G>A c.*933G>A (n.*933G>A) n.4576G>A n.3177G>A c.3688G>A (p.Ala1230Thr) c.3736G>A (p.Ala1246Thr) c.3796G>A (p.Ala1266Thr) c.3346G>A (p.Ala1116Thr) c.1648G>A (p.Ala550Thr) c.1465G>A (p.Ala489Thr) c.3697G>A (p.Ala1233Thr) c.3649G>A (p.Ala1217Thr) c.3418G>A (p.Ala1140Thr) c.3319G>A (p.Ala1107Thr) c.2500G>A (p.Ala834Thr) n.4051G>A | gnomAD v4 |
13 | g.51937548C>A | CA388021806 | ATP7B | c.*1481G>T (n.*1481G>T) c.*2575G>T (n.*2575G>T) c.3210G>T (p.Gln1070His) c.3831G>T (p.Gln1277His) c.3498G>T (p.Gln1166His) c.3579G>T (p.Gln1193His) n.1072G>T c.3597G>T (p.Gln1199His) n.3970G>T n.697G>T c.2766G>T (p.Gln922His) c.2541G>T (p.Gln847His) c.3636G>T (p.Gln1212His) c.1609G>T c.*932G>T (n.*932G>T) n.4575G>T n.3176G>T c.3687G>T (p.Gln1229His) c.3735G>T (p.Gln1245His) c.3795G>T (p.Gln1265His) c.3345G>T (p.Gln1115His) c.1647G>T (p.Gln549His) c.1464G>T (p.Gln488His) c.3696G>T (p.Gln1232His) c.3648G>T (p.Gln1216His) c.3417G>T (p.Gln1139His) c.3318G>T (p.Gln1106His) c.2499G>T (p.Gln833His) n.4050G>T | |
13 | g.51937548C>G | CA388021809 | ATP7B | c.*1481G>C (n.*1481G>C) c.*2575G>C (n.*2575G>C) c.3210G>C (p.Gln1070His) c.3831G>C (p.Gln1277His) c.3498G>C (p.Gln1166His) c.3579G>C (p.Gln1193His) n.1072G>C c.3597G>C (p.Gln1199His) n.3970G>C n.697G>C c.2766G>C (p.Gln922His) c.2541G>C (p.Gln847His) c.3636G>C (p.Gln1212His) c.1609G>C c.*932G>C (n.*932G>C) n.4575G>C n.3176G>C c.3687G>C (p.Gln1229His) c.3735G>C (p.Gln1245His) c.3795G>C (p.Gln1265His) c.3345G>C (p.Gln1115His) c.1647G>C (p.Gln549His) c.1464G>C (p.Gln488His) c.3696G>C (p.Gln1232His) c.3648G>C (p.Gln1216His) c.3417G>C (p.Gln1139His) c.3318G>C (p.Gln1106His) c.2499G>C (p.Gln833His) n.4050G>C | |
13 | g.51937548C>T | CA484024317 | ATP7B | c.*1481G>A (n.*1481G>A) c.*2575G>A (n.*2575G>A) c.3210G>A (p.Gln1070=) c.3831G>A (p.Gln1277=) c.3498G>A (p.Gln1166=) c.3579G>A (p.Gln1193=) n.1072G>A c.3597G>A (p.Gln1199=) n.3970G>A n.697G>A c.2766G>A (p.Gln922=) c.2541G>A (p.Gln847=) c.3636G>A (p.Gln1212=) c.1609G>A c.*932G>A (n.*932G>A) n.4575G>A n.3176G>A c.3687G>A (p.Gln1229=) c.3735G>A (p.Gln1245=) c.3795G>A (p.Gln1265=) c.3345G>A (p.Gln1115=) c.1647G>A (p.Gln549=) c.1464G>A (p.Gln488=) c.3696G>A (p.Gln1232=) c.3648G>A (p.Gln1216=) c.3417G>A (p.Gln1139=) c.3318G>A (p.Gln1106=) c.2499G>A (p.Gln833=) n.4050G>A | |
13 | g.51937549T>A | CA388021813 | ATP7B | c.*1480A>T (n.*1480A>T) c.*2574A>T (n.*2574A>T) c.3209A>T (p.Gln1070Leu) c.3830A>T (p.Gln1277Leu) c.3497A>T (p.Gln1166Leu) c.3578A>T (p.Gln1193Leu) n.1071A>T c.3596A>T (p.Gln1199Leu) n.3969A>T n.696A>T c.2765A>T (p.Gln922Leu) c.2540A>T (p.Gln847Leu) c.3635A>T (p.Gln1212Leu) c.1608A>T c.*931A>T (n.*931A>T) n.4574A>T n.3175A>T c.3686A>T (p.Gln1229Leu) c.3734A>T (p.Gln1245Leu) c.3794A>T (p.Gln1265Leu) c.3344A>T (p.Gln1115Leu) c.1646A>T (p.Gln549Leu) c.1463A>T (p.Gln488Leu) c.3695A>T (p.Gln1232Leu) c.3647A>T (p.Gln1216Leu) c.3416A>T (p.Gln1139Leu) c.3317A>T (p.Gln1106Leu) c.2498A>T (p.Gln833Leu) n.4049A>T | |
13 | g.51937549T>C | CA388021816 | ATP7B | c.*1480A>G (n.*1480A>G) c.*2574A>G (n.*2574A>G) c.3209A>G (p.Gln1070Arg) c.3830A>G (p.Gln1277Arg) c.3497A>G (p.Gln1166Arg) c.3578A>G (p.Gln1193Arg) n.1071A>G c.3596A>G (p.Gln1199Arg) n.3969A>G n.696A>G c.2765A>G (p.Gln922Arg) c.2540A>G (p.Gln847Arg) c.3635A>G (p.Gln1212Arg) c.1608A>G c.*931A>G (n.*931A>G) n.4574A>G n.3175A>G c.3686A>G (p.Gln1229Arg) c.3734A>G (p.Gln1245Arg) c.3794A>G (p.Gln1265Arg) c.3344A>G (p.Gln1115Arg) c.1646A>G (p.Gln549Arg) c.1463A>G (p.Gln488Arg) c.3695A>G (p.Gln1232Arg) c.3647A>G (p.Gln1216Arg) c.3416A>G (p.Gln1139Arg) c.3317A>G (p.Gln1106Arg) c.2498A>G (p.Gln833Arg) n.4049A>G | |
13 | g.51937549T>G | CA388021818 | ATP7B | c.*1480A>C (n.*1480A>C) c.*2574A>C (n.*2574A>C) c.3209A>C (p.Gln1070Pro) c.3830A>C (p.Gln1277Pro) c.3497A>C (p.Gln1166Pro) c.3578A>C (p.Gln1193Pro) n.1071A>C c.3596A>C (p.Gln1199Pro) n.3969A>C n.696A>C c.2765A>C (p.Gln922Pro) c.2540A>C (p.Gln847Pro) c.3635A>C (p.Gln1212Pro) c.1608A>C c.*931A>C (n.*931A>C) n.4574A>C n.3175A>C c.3686A>C (p.Gln1229Pro) c.3734A>C (p.Gln1245Pro) c.3794A>C (p.Gln1265Pro) c.3344A>C (p.Gln1115Pro) c.1646A>C (p.Gln549Pro) c.1463A>C (p.Gln488Pro) c.3695A>C (p.Gln1232Pro) c.3647A>C (p.Gln1216Pro) c.3416A>C (p.Gln1139Pro) c.3317A>C (p.Gln1106Pro) c.2498A>C (p.Gln833Pro) n.4049A>C | |
13 | g.51937549_51937550del | CA2507661316 | ATP7B | c.*1479_*1480del (n.*1479_*1480del) c.*2573_*2574del (n.*2573_*2574del) c.3208_3209del (p.Gln1070GlyfsTer26) c.3829_3830del (p.Gln1277GlyfsTer26) c.3496_3497del (p.Gln1166GlyfsTer26) c.3577_3578del (p.Gln1193GlyfsTer26) n.1070_1071del c.3595_3596del (p.Gln1199GlyfsTer26) n.3968_3969del n.695_696del c.2764_2765del (p.Gln922GlyfsTer26) c.2539_2540del (p.Gln847GlyfsTer26) c.3634_3635del (p.Gln1212GlyfsTer26) c.1607_1608del c.*930_*931del (n.*930_*931del) n.4573_4574del n.3174_3175del c.3685_3686del (p.Gln1229GlyfsTer26) c.3733_3734del (p.Gln1245GlyfsTer26) c.3793_3794del (p.Gln1265GlyfsTer26) c.3343_3344del (p.Gln1115GlyfsTer26) c.1645_1646del (p.Gln549GlyfsTer26) c.1462_1463del (p.Gln488GlyfsTer26) c.3694_3695del (p.Gln1232GlyfsTer26) c.3646_3647del (p.Gln1216GlyfsTer26) c.3415_3416del (p.Gln1139GlyfsTer26) c.3316_3317del (p.Gln1106GlyfsTer26) c.2497_2498del (p.Gln833GlyfsTer26) n.4048_4049del | |
13 | g.51937550G>A | CA388021823 | ATP7B | c.*1479C>T (n.*1479C>T) c.*2573C>T (n.*2573C>T) c.3208C>T (p.Gln1070Ter) c.3829C>T (p.Gln1277Ter) c.3496C>T (p.Gln1166Ter) c.3577C>T (p.Gln1193Ter) n.1070C>T c.3595C>T (p.Gln1199Ter) n.3968C>T n.695C>T c.2764C>T (p.Gln922Ter) c.2539C>T (p.Gln847Ter) c.3634C>T (p.Gln1212Ter) c.1607C>T c.*930C>T (n.*930C>T) n.4573C>T n.3174C>T c.3685C>T (p.Gln1229Ter) c.3733C>T (p.Gln1245Ter) c.3793C>T (p.Gln1265Ter) c.3343C>T (p.Gln1115Ter) c.1645C>T (p.Gln549Ter) c.1462C>T (p.Gln488Ter) c.3694C>T (p.Gln1232Ter) c.3646C>T (p.Gln1216Ter) c.3415C>T (p.Gln1139Ter) c.3316C>T (p.Gln1106Ter) c.2497C>T (p.Gln833Ter) n.4048C>T | |
13 | g.51937550G>C | CA388021825 | ATP7B | c.*1479C>G (n.*1479C>G) c.*2573C>G (n.*2573C>G) c.3208C>G (p.Gln1070Glu) c.3829C>G (p.Gln1277Glu) c.3496C>G (p.Gln1166Glu) c.3577C>G (p.Gln1193Glu) n.1070C>G c.3595C>G (p.Gln1199Glu) n.3968C>G n.695C>G c.2764C>G (p.Gln922Glu) c.2539C>G (p.Gln847Glu) c.3634C>G (p.Gln1212Glu) c.1607C>G c.*930C>G (n.*930C>G) n.4573C>G n.3174C>G c.3685C>G (p.Gln1229Glu) c.3733C>G (p.Gln1245Glu) c.3793C>G (p.Gln1265Glu) c.3343C>G (p.Gln1115Glu) c.1645C>G (p.Gln549Glu) c.1462C>G (p.Gln488Glu) c.3694C>G (p.Gln1232Glu) c.3646C>G (p.Gln1216Glu) c.3415C>G (p.Gln1139Glu) c.3316C>G (p.Gln1106Glu) c.2497C>G (p.Gln833Glu) n.4048C>G | |
13 | g.51937550G>T | CA388021827 | ATP7B | c.*1479C>A (n.*1479C>A) c.*2573C>A (n.*2573C>A) c.3208C>A (p.Gln1070Lys) c.3829C>A (p.Gln1277Lys) c.3496C>A (p.Gln1166Lys) c.3577C>A (p.Gln1193Lys) n.1070C>A c.3595C>A (p.Gln1199Lys) n.3968C>A n.695C>A c.2764C>A (p.Gln922Lys) c.2539C>A (p.Gln847Lys) c.3634C>A (p.Gln1212Lys) c.1607C>A c.*930C>A (n.*930C>A) n.4573C>A n.3174C>A c.3685C>A (p.Gln1229Lys) c.3733C>A (p.Gln1245Lys) c.3793C>A (p.Gln1265Lys) c.3343C>A (p.Gln1115Lys) c.1645C>A (p.Gln549Lys) c.1462C>A (p.Gln488Lys) c.3694C>A (p.Gln1232Lys) c.3646C>A (p.Gln1216Lys) c.3415C>A (p.Gln1139Lys) c.3316C>A (p.Gln1106Lys) c.2497C>A (p.Gln833Lys) n.4048C>A | |
13 | g.51937551G>A | CA484024320 | ATP7B | c.*1478C>T (n.*1478C>T) c.*2572C>T (n.*2572C>T) c.3207C>T (p.Ala1069=) c.3828C>T (p.Ala1276=) c.3495C>T (p.Ala1165=) c.3576C>T (p.Ala1192=) n.1069C>T c.3594C>T (p.Ala1198=) n.3967C>T n.694C>T c.2763C>T (p.Ala921=) c.2538C>T (p.Ala846=) c.3633C>T (p.Ala1211=) c.1606C>T c.*929C>T (n.*929C>T) n.4572C>T n.3173C>T c.3684C>T (p.Ala1228=) c.3732C>T (p.Ala1244=) c.3792C>T (p.Ala1264=) c.3342C>T (p.Ala1114=) c.1644C>T (p.Ala548=) c.1461C>T (p.Ala487=) c.3693C>T (p.Ala1231=) c.3645C>T (p.Ala1215=) c.3414C>T (p.Ala1138=) c.3315C>T (p.Ala1105=) c.2496C>T (p.Ala832=) n.4047C>T | gnomAD v4 |
13 | g.51937551G>C | CA484024319 | ATP7B | c.*1478C>G (n.*1478C>G) c.*2572C>G (n.*2572C>G) c.3207C>G (p.Ala1069=) c.3828C>G (p.Ala1276=) c.3495C>G (p.Ala1165=) c.3576C>G (p.Ala1192=) n.1069C>G c.3594C>G (p.Ala1198=) n.3967C>G n.694C>G c.2763C>G (p.Ala921=) c.2538C>G (p.Ala846=) c.3633C>G (p.Ala1211=) c.1606C>G c.*929C>G (n.*929C>G) n.4572C>G n.3173C>G c.3684C>G (p.Ala1228=) c.3732C>G (p.Ala1244=) c.3792C>G (p.Ala1264=) c.3342C>G (p.Ala1114=) c.1644C>G (p.Ala548=) c.1461C>G (p.Ala487=) c.3693C>G (p.Ala1231=) c.3645C>G (p.Ala1215=) c.3414C>G (p.Ala1138=) c.3315C>G (p.Ala1105=) c.2496C>G (p.Ala832=) n.4047C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937551G= | CA2091553951 | ATP7B | c.*1478C= (n.*1478C=) c.*2572C= (n.*2572C=) c.3207C= (p.Ala1069=) c.3828C= (p.Ala1276=) c.3495C= (p.Ala1165=) c.3576C= (p.Ala1192=) n.1069C= c.3594C= (p.Ala1198=) n.3967C= n.694C= c.2763C= (p.Ala921=) c.2538C= (p.Ala846=) c.3633C= (p.Ala1211=) c.1606C= c.*929C= (n.*929C=) n.4572C= n.3173C= c.3684C= (p.Ala1228=) c.3732C= (p.Ala1244=) c.3792C= (p.Ala1264=) c.3342C= (p.Ala1114=) c.1644C= (p.Ala548=) c.1461C= (p.Ala487=) c.3693C= (p.Ala1231=) c.3645C= (p.Ala1215=) c.3414C= (p.Ala1138=) c.3315C= (p.Ala1105=) c.2496C= (p.Ala832=) n.4047C= | |
13 | g.51937551G>T | CA484024318 | ATP7B | c.*1478C>A (n.*1478C>A) c.*2572C>A (n.*2572C>A) c.3207C>A (p.Ala1069=) c.3828C>A (p.Ala1276=) c.3495C>A (p.Ala1165=) c.3576C>A (p.Ala1192=) n.1069C>A c.3594C>A (p.Ala1198=) n.3967C>A n.694C>A c.2763C>A (p.Ala921=) c.2538C>A (p.Ala846=) c.3633C>A (p.Ala1211=) c.1606C>A c.*929C>A (n.*929C>A) n.4572C>A n.3173C>A c.3684C>A (p.Ala1228=) c.3732C>A (p.Ala1244=) c.3792C>A (p.Ala1264=) c.3342C>A (p.Ala1114=) c.1644C>A (p.Ala548=) c.1461C>A (p.Ala487=) c.3693C>A (p.Ala1231=) c.3645C>A (p.Ala1215=) c.3414C>A (p.Ala1138=) c.3315C>A (p.Ala1105=) c.2496C>A (p.Ala832=) n.4047C>A | |
13 | g.51937551_51937552insCA | CA2535443040 | ATP7B | c.*1477_*1478insTG (n.*1477_*1478insTG) c.*2571_*2572insTG (n.*2571_*2572insTG) c.3206_3207insTG (p.Gln1070AlafsTer?) c.3827_3828insTG (p.Gln1277AlafsTer?) c.3494_3495insTG (p.Gln1166AlafsTer?) c.3575_3576insTG (p.Gln1193AlafsTer?) n.1068_1069insTG c.3593_3594insTG (p.Gln1199AlafsTer?) n.3966_3967insTG n.693_694insTG c.2762_2763insTG (p.Gln922AlafsTer?) c.2537_2538insTG (p.Gln847AlafsTer?) c.3632_3633insTG (p.Gln1212AlafsTer?) c.1605_1606insTG c.*928_*929insTG (n.*928_*929insTG) n.4571_4572insTG n.3172_3173insTG c.3683_3684insTG (p.Gln1229AlafsTer?) c.3731_3732insTG (p.Gln1245AlafsTer?) c.3791_3792insTG (p.Gln1265AlafsTer?) c.3341_3342insTG (p.Gln1115AlafsTer?) c.1643_1644insTG (p.Gln549AlafsTer?) c.1460_1461insTG (p.Gln488AlafsTer?) c.3692_3693insTG (p.Gln1232AlafsTer?) c.3644_3645insTG (p.Gln1216AlafsTer?) c.3413_3414insTG (p.Gln1139AlafsTer?) c.3314_3315insTG (p.Gln1106AlafsTer?) c.2495_2496insTG (p.Gln833AlafsTer?) n.4046_4047insTG | |
13 | g.51937552G>A | CA388021830 | ATP7B | c.*1477C>T (n.*1477C>T) c.*2571C>T (n.*2571C>T) c.3206C>T (p.Ala1069Val) c.3827C>T (p.Ala1276Val) c.3494C>T (p.Ala1165Val) c.3575C>T (p.Ala1192Val) n.1068C>T c.3593C>T (p.Ala1198Val) n.3966C>T n.693C>T c.2762C>T (p.Ala921Val) c.2537C>T (p.Ala846Val) c.3632C>T (p.Ala1211Val) c.1605C>T c.*928C>T (n.*928C>T) n.4571C>T n.3172C>T c.3683C>T (p.Ala1228Val) c.3731C>T (p.Ala1244Val) c.3791C>T (p.Ala1264Val) c.3341C>T (p.Ala1114Val) c.1643C>T (p.Ala548Val) c.1460C>T (p.Ala487Val) c.3692C>T (p.Ala1231Val) c.3644C>T (p.Ala1215Val) c.3413C>T (p.Ala1138Val) c.3314C>T (p.Ala1105Val) c.2495C>T (p.Ala832Val) n.4046C>T | |
13 | g.51937552G>C | CA388021843 | ATP7B | c.*1477C>G (n.*1477C>G) c.*2571C>G (n.*2571C>G) c.3206C>G (p.Ala1069Gly) c.3827C>G (p.Ala1276Gly) c.3494C>G (p.Ala1165Gly) c.3575C>G (p.Ala1192Gly) n.1068C>G c.3593C>G (p.Ala1198Gly) n.3966C>G n.693C>G c.2762C>G (p.Ala921Gly) c.2537C>G (p.Ala846Gly) c.3632C>G (p.Ala1211Gly) c.1605C>G c.*928C>G (n.*928C>G) n.4571C>G n.3172C>G c.3683C>G (p.Ala1228Gly) c.3731C>G (p.Ala1244Gly) c.3791C>G (p.Ala1264Gly) c.3341C>G (p.Ala1114Gly) c.1643C>G (p.Ala548Gly) c.1460C>G (p.Ala487Gly) c.3692C>G (p.Ala1231Gly) c.3644C>G (p.Ala1215Gly) c.3413C>G (p.Ala1138Gly) c.3314C>G (p.Ala1105Gly) c.2495C>G (p.Ala832Gly) n.4046C>G | |
13 | g.51937552G>T | CA388021834 | ATP7B | c.*1477C>A (n.*1477C>A) c.*2571C>A (n.*2571C>A) c.3206C>A (p.Ala1069Asp) c.3827C>A (p.Ala1276Asp) c.3494C>A (p.Ala1165Asp) c.3575C>A (p.Ala1192Asp) n.1068C>A c.3593C>A (p.Ala1198Asp) n.3966C>A n.693C>A c.2762C>A (p.Ala921Asp) c.2537C>A (p.Ala846Asp) c.3632C>A (p.Ala1211Asp) c.1605C>A c.*928C>A (n.*928C>A) n.4571C>A n.3172C>A c.3683C>A (p.Ala1228Asp) c.3731C>A (p.Ala1244Asp) c.3791C>A (p.Ala1264Asp) c.3341C>A (p.Ala1114Asp) c.1643C>A (p.Ala548Asp) c.1460C>A (p.Ala487Asp) c.3692C>A (p.Ala1231Asp) c.3644C>A (p.Ala1215Asp) c.3413C>A (p.Ala1138Asp) c.3314C>A (p.Ala1105Asp) c.2495C>A (p.Ala832Asp) n.4046C>A | |
13 | g.51937553C>A | CA388021849 | ATP7B | c.*1476G>T (n.*1476G>T) c.*2570G>T (n.*2570G>T) c.3205G>T (p.Ala1069Ser) c.3826G>T (p.Ala1276Ser) c.3493G>T (p.Ala1165Ser) c.3574G>T (p.Ala1192Ser) n.1067G>T c.3592G>T (p.Ala1198Ser) n.3965G>T n.692G>T c.2761G>T (p.Ala921Ser) c.2536G>T (p.Ala846Ser) c.3631G>T (p.Ala1211Ser) c.1604G>T c.*927G>T (n.*927G>T) n.4570G>T n.3171G>T c.3682G>T (p.Ala1228Ser) c.3730G>T (p.Ala1244Ser) c.3790G>T (p.Ala1264Ser) c.3340G>T (p.Ala1114Ser) c.1642G>T (p.Ala548Ser) c.1459G>T (p.Ala487Ser) c.3691G>T (p.Ala1231Ser) c.3643G>T (p.Ala1215Ser) c.3412G>T (p.Ala1138Ser) c.3313G>T (p.Ala1105Ser) c.2494G>T (p.Ala832Ser) n.4045G>T | |
13 | g.51937553C>G | CA388021852 | ATP7B | c.*1476G>C (n.*1476G>C) c.*2570G>C (n.*2570G>C) c.3205G>C (p.Ala1069Pro) c.3826G>C (p.Ala1276Pro) c.3493G>C (p.Ala1165Pro) c.3574G>C (p.Ala1192Pro) n.1067G>C c.3592G>C (p.Ala1198Pro) n.3965G>C n.692G>C c.2761G>C (p.Ala921Pro) c.2536G>C (p.Ala846Pro) c.3631G>C (p.Ala1211Pro) c.1604G>C c.*927G>C (n.*927G>C) n.4570G>C n.3171G>C c.3682G>C (p.Ala1228Pro) c.3730G>C (p.Ala1244Pro) c.3790G>C (p.Ala1264Pro) c.3340G>C (p.Ala1114Pro) c.1642G>C (p.Ala548Pro) c.1459G>C (p.Ala487Pro) c.3691G>C (p.Ala1231Pro) c.3643G>C (p.Ala1215Pro) c.3412G>C (p.Ala1138Pro) c.3313G>C (p.Ala1105Pro) c.2494G>C (p.Ala832Pro) n.4045G>C | |
13 | g.51937553C>T | CA388021853 | ATP7B | c.*1476G>A (n.*1476G>A) c.*2570G>A (n.*2570G>A) c.3205G>A (p.Ala1069Thr) c.3826G>A (p.Ala1276Thr) c.3493G>A (p.Ala1165Thr) c.3574G>A (p.Ala1192Thr) n.1067G>A c.3592G>A (p.Ala1198Thr) n.3965G>A n.692G>A c.2761G>A (p.Ala921Thr) c.2536G>A (p.Ala846Thr) c.3631G>A (p.Ala1211Thr) c.1604G>A c.*927G>A (n.*927G>A) n.4570G>A n.3171G>A c.3682G>A (p.Ala1228Thr) c.3730G>A (p.Ala1244Thr) c.3790G>A (p.Ala1264Thr) c.3340G>A (p.Ala1114Thr) c.1642G>A (p.Ala548Thr) c.1459G>A (p.Ala487Thr) c.3691G>A (p.Ala1231Thr) c.3643G>A (p.Ala1215Thr) c.3412G>A (p.Ala1138Thr) c.3313G>A (p.Ala1105Thr) c.2494G>A (p.Ala832Thr) n.4045G>A | |
13 | g.51937553_51937554insTG | CA2522069014 | ATP7B | c.*1475_*1476insCA (n.*1475_*1476insCA) c.*2569_*2570insCA (n.*2569_*2570insCA) c.3204_3205insCA (p.Ala1069GlnfsTer?) c.3825_3826insCA (p.Ala1276GlnfsTer?) c.3492_3493insCA (p.Ala1165GlnfsTer?) c.3573_3574insCA (p.Ala1192GlnfsTer?) n.1066_1067insCA c.3591_3592insCA (p.Ala1198GlnfsTer?) n.3964_3965insCA n.691_692insCA c.2760_2761insCA (p.Ala921GlnfsTer?) c.2535_2536insCA (p.Ala846GlnfsTer?) c.3630_3631insCA (p.Ala1211GlnfsTer?) c.1603_1604insCA c.*926_*927insCA (n.*926_*927insCA) n.4569_4570insCA n.3170_3171insCA c.3681_3682insCA (p.Ala1228GlnfsTer?) c.3729_3730insCA (p.Ala1244GlnfsTer?) c.3789_3790insCA (p.Ala1264GlnfsTer?) c.3339_3340insCA (p.Ala1114GlnfsTer?) c.1641_1642insCA (p.Ala548GlnfsTer?) c.1458_1459insCA (p.Ala487GlnfsTer?) c.3690_3691insCA (p.Ala1231GlnfsTer?) c.3642_3643insCA (p.Ala1215GlnfsTer?) c.3411_3412insCA (p.Ala1138GlnfsTer?) c.3312_3313insCA (p.Ala1105GlnfsTer?) c.2493_2494insCA (p.Ala832GlnfsTer?) n.4044_4045insCA | |
13 | g.51937554C>A | CA388021854 | ATP7B | c.*1475G>T (n.*1475G>T) c.*2569G>T (n.*2569G>T) c.3204G>T (p.Leu1068Phe) c.3825G>T (p.Leu1275Phe) c.3492G>T (p.Leu1164Phe) c.3573G>T (p.Leu1191Phe) n.1066G>T c.3591G>T (p.Leu1197Phe) n.3964G>T n.691G>T c.2760G>T (p.Leu920Phe) c.2535G>T (p.Leu845Phe) c.3630G>T (p.Leu1210Phe) c.1603G>T c.*926G>T (n.*926G>T) n.4569G>T n.3170G>T c.3681G>T (p.Leu1227Phe) c.3729G>T (p.Leu1243Phe) c.3789G>T (p.Leu1263Phe) c.3339G>T (p.Leu1113Phe) c.1641G>T (p.Leu547Phe) c.1458G>T (p.Leu486Phe) c.3690G>T (p.Leu1230Phe) c.3642G>T (p.Leu1214Phe) c.3411G>T (p.Leu1137Phe) c.3312G>T (p.Leu1104Phe) c.2493G>T (p.Leu831Phe) n.4044G>T | |
13 | g.51937554C>G | CA388021855 | ATP7B | c.*1475G>C (n.*1475G>C) c.*2569G>C (n.*2569G>C) c.3204G>C (p.Leu1068Phe) c.3825G>C (p.Leu1275Phe) c.3492G>C (p.Leu1164Phe) c.3573G>C (p.Leu1191Phe) n.1066G>C c.3591G>C (p.Leu1197Phe) n.3964G>C n.691G>C c.2760G>C (p.Leu920Phe) c.2535G>C (p.Leu845Phe) c.3630G>C (p.Leu1210Phe) c.1603G>C c.*926G>C (n.*926G>C) n.4569G>C n.3170G>C c.3681G>C (p.Leu1227Phe) c.3729G>C (p.Leu1243Phe) c.3789G>C (p.Leu1263Phe) c.3339G>C (p.Leu1113Phe) c.1641G>C (p.Leu547Phe) c.1458G>C (p.Leu486Phe) c.3690G>C (p.Leu1230Phe) c.3642G>C (p.Leu1214Phe) c.3411G>C (p.Leu1137Phe) c.3312G>C (p.Leu1104Phe) c.2493G>C (p.Leu831Phe) n.4044G>C | |
13 | g.51937554C>T | CA484024321 | ATP7B | c.*1475G>A (n.*1475G>A) c.*2569G>A (n.*2569G>A) c.3204G>A (p.Leu1068=) c.3825G>A (p.Leu1275=) c.3492G>A (p.Leu1164=) c.3573G>A (p.Leu1191=) n.1066G>A c.3591G>A (p.Leu1197=) n.3964G>A n.691G>A c.2760G>A (p.Leu920=) c.2535G>A (p.Leu845=) c.3630G>A (p.Leu1210=) c.1603G>A c.*926G>A (n.*926G>A) n.4569G>A n.3170G>A c.3681G>A (p.Leu1227=) c.3729G>A (p.Leu1243=) c.3789G>A (p.Leu1263=) c.3339G>A (p.Leu1113=) c.1641G>A (p.Leu547=) c.1458G>A (p.Leu486=) c.3690G>A (p.Leu1230=) c.3642G>A (p.Leu1214=) c.3411G>A (p.Leu1137=) c.3312G>A (p.Leu1104=) c.2493G>A (p.Leu831=) n.4044G>A | ClinVar gnomAD v4 |
13 | g.51937555A= | CA2091553957 | ATP7B | c.*1474T= (n.*1474T=) c.*2568T= (n.*2568T=) c.3203T= (p.Leu1068=) c.3824T= (p.Leu1275=) c.3491T= (p.Leu1164=) c.3572T= (p.Leu1191=) n.1065T= c.3590T= (p.Leu1197=) n.3963T= n.690T= c.2759T= (p.Leu920=) c.2534T= (p.Leu845=) c.3629T= (p.Leu1210=) c.1602T= c.*925T= (n.*925T=) n.4568T= n.3169T= c.3680T= (p.Leu1227=) c.3728T= (p.Leu1243=) c.3788T= (p.Leu1263=) c.3338T= (p.Leu1113=) c.1640T= (p.Leu547=) c.1457T= (p.Leu486=) c.3689T= (p.Leu1230=) c.3641T= (p.Leu1214=) c.3410T= (p.Leu1137=) c.3311T= (p.Leu1104=) c.2492T= (p.Leu831=) n.4043T= | |
13 | g.51937555A>C | CA388021856 | ATP7B | c.*1474T>G (n.*1474T>G) c.*2568T>G (n.*2568T>G) c.3203T>G (p.Leu1068Trp) c.3824T>G (p.Leu1275Trp) c.3491T>G (p.Leu1164Trp) c.3572T>G (p.Leu1191Trp) n.1065T>G c.3590T>G (p.Leu1197Trp) n.3963T>G n.690T>G c.2759T>G (p.Leu920Trp) c.2534T>G (p.Leu845Trp) c.3629T>G (p.Leu1210Trp) c.1602T>G c.*925T>G (n.*925T>G) n.4568T>G n.3169T>G c.3680T>G (p.Leu1227Trp) c.3728T>G (p.Leu1243Trp) c.3788T>G (p.Leu1263Trp) c.3338T>G (p.Leu1113Trp) c.1640T>G (p.Leu547Trp) c.1457T>G (p.Leu486Trp) c.3689T>G (p.Leu1230Trp) c.3641T>G (p.Leu1214Trp) c.3410T>G (p.Leu1137Trp) c.3311T>G (p.Leu1104Trp) c.2492T>G (p.Leu831Trp) n.4043T>G | |
13 | g.51937555A>G | CA388021857 | ATP7B | c.*1474T>C (n.*1474T>C) c.*2568T>C (n.*2568T>C) c.3203T>C (p.Leu1068Ser) c.3824T>C (p.Leu1275Ser) c.3491T>C (p.Leu1164Ser) c.3572T>C (p.Leu1191Ser) n.1065T>C c.3590T>C (p.Leu1197Ser) n.3963T>C n.690T>C c.2759T>C (p.Leu920Ser) c.2534T>C (p.Leu845Ser) c.3629T>C (p.Leu1210Ser) c.1602T>C c.*925T>C (n.*925T>C) n.4568T>C n.3169T>C c.3680T>C (p.Leu1227Ser) c.3728T>C (p.Leu1243Ser) c.3788T>C (p.Leu1263Ser) c.3338T>C (p.Leu1113Ser) c.1640T>C (p.Leu547Ser) c.1457T>C (p.Leu486Ser) c.3689T>C (p.Leu1230Ser) c.3641T>C (p.Leu1214Ser) c.3410T>C (p.Leu1137Ser) c.3311T>C (p.Leu1104Ser) c.2492T>C (p.Leu831Ser) n.4043T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937555A>T | CA388021859 | ATP7B | c.*1474T>A (n.*1474T>A) c.*2568T>A (n.*2568T>A) c.3203T>A (p.Leu1068Ter) c.3824T>A (p.Leu1275Ter) c.3491T>A (p.Leu1164Ter) c.3572T>A (p.Leu1191Ter) n.1065T>A c.3590T>A (p.Leu1197Ter) n.3963T>A n.690T>A c.2759T>A (p.Leu920Ter) c.2534T>A (p.Leu845Ter) c.3629T>A (p.Leu1210Ter) c.1602T>A c.*925T>A (n.*925T>A) n.4568T>A n.3169T>A c.3680T>A (p.Leu1227Ter) c.3728T>A (p.Leu1243Ter) c.3788T>A (p.Leu1263Ter) c.3338T>A (p.Leu1113Ter) c.1640T>A (p.Leu547Ter) c.1457T>A (p.Leu486Ter) c.3689T>A (p.Leu1230Ter) c.3641T>A (p.Leu1214Ter) c.3410T>A (p.Leu1137Ter) c.3311T>A (p.Leu1104Ter) c.2492T>A (p.Leu831Ter) n.4043T>A | |
13 | g.51937556A>C | CA388021864 | ATP7B | c.*1473T>G (n.*1473T>G) c.*2567T>G (n.*2567T>G) c.3202T>G (p.Leu1068Val) c.3823T>G (p.Leu1275Val) c.3490T>G (p.Leu1164Val) c.3571T>G (p.Leu1191Val) n.1064T>G c.3589T>G (p.Leu1197Val) n.3962T>G n.689T>G c.2758T>G (p.Leu920Val) c.2533T>G (p.Leu845Val) c.3628T>G (p.Leu1210Val) c.1601T>G c.*924T>G (n.*924T>G) n.4567T>G n.3168T>G c.3679T>G (p.Leu1227Val) c.3727T>G (p.Leu1243Val) c.3787T>G (p.Leu1263Val) c.3337T>G (p.Leu1113Val) c.1639T>G (p.Leu547Val) c.1456T>G (p.Leu486Val) c.3688T>G (p.Leu1230Val) c.3640T>G (p.Leu1214Val) c.3409T>G (p.Leu1137Val) c.3310T>G (p.Leu1104Val) c.2491T>G (p.Leu831Val) n.4042T>G | |
13 | g.51937556A>G | CA484024322 | ATP7B | c.*1473T>C (n.*1473T>C) c.*2567T>C (n.*2567T>C) c.3202T>C (p.Leu1068=) c.3823T>C (p.Leu1275=) c.3490T>C (p.Leu1164=) c.3571T>C (p.Leu1191=) n.1064T>C c.3589T>C (p.Leu1197=) n.3962T>C n.689T>C c.2758T>C (p.Leu920=) c.2533T>C (p.Leu845=) c.3628T>C (p.Leu1210=) c.1601T>C c.*924T>C (n.*924T>C) n.4567T>C n.3168T>C c.3679T>C (p.Leu1227=) c.3727T>C (p.Leu1243=) c.3787T>C (p.Leu1263=) c.3337T>C (p.Leu1113=) c.1639T>C (p.Leu547=) c.1456T>C (p.Leu486=) c.3688T>C (p.Leu1230=) c.3640T>C (p.Leu1214=) c.3409T>C (p.Leu1137=) c.3310T>C (p.Leu1104=) c.2491T>C (p.Leu831=) n.4042T>C | |
13 | g.51937556A>T | CA388021866 | ATP7B | c.*1473T>A (n.*1473T>A) c.*2567T>A (n.*2567T>A) c.3202T>A (p.Leu1068Met) c.3823T>A (p.Leu1275Met) c.3490T>A (p.Leu1164Met) c.3571T>A (p.Leu1191Met) n.1064T>A c.3589T>A (p.Leu1197Met) n.3962T>A n.689T>A c.2758T>A (p.Leu920Met) c.2533T>A (p.Leu845Met) c.3628T>A (p.Leu1210Met) c.1601T>A c.*924T>A (n.*924T>A) n.4567T>A n.3168T>A c.3679T>A (p.Leu1227Met) c.3727T>A (p.Leu1243Met) c.3787T>A (p.Leu1263Met) c.3337T>A (p.Leu1113Met) c.1639T>A (p.Leu547Met) c.1456T>A (p.Leu486Met) c.3688T>A (p.Leu1230Met) c.3640T>A (p.Leu1214Met) c.3409T>A (p.Leu1137Met) c.3310T>A (p.Leu1104Met) c.2491T>A (p.Leu831Met) n.4042T>A | |
13 | g.51937557G>A | CA484024323 | ATP7B | c.*1472C>T (n.*1472C>T) c.*2566C>T (n.*2566C>T) c.3201C>T (p.Ala1067=) c.3822C>T (p.Ala1274=) c.3489C>T (p.Ala1163=) c.3570C>T (p.Ala1190=) n.1063C>T c.3588C>T (p.Ala1196=) n.3961C>T n.688C>T c.2757C>T (p.Ala919=) c.2532C>T (p.Ala844=) c.3627C>T (p.Ala1209=) c.1600C>T c.*923C>T (n.*923C>T) n.4566C>T n.3167C>T c.3678C>T (p.Ala1226=) c.3726C>T (p.Ala1242=) c.3786C>T (p.Ala1262=) c.3336C>T (p.Ala1112=) c.1638C>T (p.Ala546=) c.1455C>T (p.Ala485=) c.3687C>T (p.Ala1229=) c.3639C>T (p.Ala1213=) c.3408C>T (p.Ala1136=) c.3309C>T (p.Ala1103=) c.2490C>T (p.Ala830=) n.4041C>T | ClinVar |
13 | g.51937557G>C | CA484024325 | ATP7B | c.*1472C>G (n.*1472C>G) c.*2566C>G (n.*2566C>G) c.3201C>G (p.Ala1067=) c.3822C>G (p.Ala1274=) c.3489C>G (p.Ala1163=) c.3570C>G (p.Ala1190=) n.1063C>G c.3588C>G (p.Ala1196=) n.3961C>G n.688C>G c.2757C>G (p.Ala919=) c.2532C>G (p.Ala844=) c.3627C>G (p.Ala1209=) c.1600C>G c.*923C>G (n.*923C>G) n.4566C>G n.3167C>G c.3678C>G (p.Ala1226=) c.3726C>G (p.Ala1242=) c.3786C>G (p.Ala1262=) c.3336C>G (p.Ala1112=) c.1638C>G (p.Ala546=) c.1455C>G (p.Ala485=) c.3687C>G (p.Ala1229=) c.3639C>G (p.Ala1213=) c.3408C>G (p.Ala1136=) c.3309C>G (p.Ala1103=) c.2490C>G (p.Ala830=) n.4041C>G | |
13 | g.51937557G>T | CA484024324 | ATP7B | c.*1472C>A (n.*1472C>A) c.*2566C>A (n.*2566C>A) c.3201C>A (p.Ala1067=) c.3822C>A (p.Ala1274=) c.3489C>A (p.Ala1163=) c.3570C>A (p.Ala1190=) n.1063C>A c.3588C>A (p.Ala1196=) n.3961C>A n.688C>A c.2757C>A (p.Ala919=) c.2532C>A (p.Ala844=) c.3627C>A (p.Ala1209=) c.1600C>A c.*923C>A (n.*923C>A) n.4566C>A n.3167C>A c.3678C>A (p.Ala1226=) c.3726C>A (p.Ala1242=) c.3786C>A (p.Ala1262=) c.3336C>A (p.Ala1112=) c.1638C>A (p.Ala546=) c.1455C>A (p.Ala485=) c.3687C>A (p.Ala1229=) c.3639C>A (p.Ala1213=) c.3408C>A (p.Ala1136=) c.3309C>A (p.Ala1103=) c.2490C>A (p.Ala830=) n.4041C>A | |
13 | g.51937557_51937558insT | CA2543253963 | ATP7B | c.*1471_*1472insA (n.*1471_*1472insA) c.*2565_*2566insA (n.*2565_*2566insA) c.3200_3201insA (p.Ala1069GlyfsTer28) c.3821_3822insA (p.Ala1276GlyfsTer28) c.3488_3489insA (p.Ala1165GlyfsTer28) c.3569_3570insA (p.Ala1192GlyfsTer28) n.1062_1063insA c.3587_3588insA (p.Ala1198GlyfsTer28) n.3960_3961insA n.687_688insA c.2756_2757insA (p.Ala921GlyfsTer28) c.2531_2532insA (p.Ala846GlyfsTer28) c.3626_3627insA (p.Ala1211GlyfsTer28) c.1599_1600insA c.*922_*923insA (n.*922_*923insA) n.4565_4566insA n.3166_3167insA c.3677_3678insA (p.Ala1228GlyfsTer28) c.3725_3726insA (p.Ala1244GlyfsTer28) c.3785_3786insA (p.Ala1264GlyfsTer28) c.3335_3336insA (p.Ala1114GlyfsTer28) c.1637_1638insA (p.Ala548GlyfsTer28) c.1454_1455insA (p.Ala487GlyfsTer28) c.3686_3687insA (p.Ala1231GlyfsTer28) c.3638_3639insA (p.Ala1215GlyfsTer28) c.3407_3408insA (p.Ala1138GlyfsTer28) c.3308_3309insA (p.Ala1105GlyfsTer28) c.2489_2490insA (p.Ala832GlyfsTer28) n.4040_4041insA | |
13 | g.51937558G>A | CA388021873 | ATP7B | c.*1471C>T (n.*1471C>T) c.*2565C>T (n.*2565C>T) c.3200C>T (p.Ala1067Val) c.3821C>T (p.Ala1274Val) c.3488C>T (p.Ala1163Val) c.3569C>T (p.Ala1190Val) n.1062C>T c.3587C>T (p.Ala1196Val) n.3960C>T n.687C>T c.2756C>T (p.Ala919Val) c.2531C>T (p.Ala844Val) c.3626C>T (p.Ala1209Val) c.1599C>T c.*922C>T (n.*922C>T) n.4565C>T n.3166C>T c.3677C>T (p.Ala1226Val) c.3725C>T (p.Ala1242Val) c.3785C>T (p.Ala1262Val) c.3335C>T (p.Ala1112Val) c.1637C>T (p.Ala546Val) c.1454C>T (p.Ala485Val) c.3686C>T (p.Ala1229Val) c.3638C>T (p.Ala1213Val) c.3407C>T (p.Ala1136Val) c.3308C>T (p.Ala1103Val) c.2489C>T (p.Ala830Val) n.4040C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937558G>C | CA388021875 | ATP7B | c.*1471C>G (n.*1471C>G) c.*2565C>G (n.*2565C>G) c.3200C>G (p.Ala1067Gly) c.3821C>G (p.Ala1274Gly) c.3488C>G (p.Ala1163Gly) c.3569C>G (p.Ala1190Gly) n.1062C>G c.3587C>G (p.Ala1196Gly) n.3960C>G n.687C>G c.2756C>G (p.Ala919Gly) c.2531C>G (p.Ala844Gly) c.3626C>G (p.Ala1209Gly) c.1599C>G c.*922C>G (n.*922C>G) n.4565C>G n.3166C>G c.3677C>G (p.Ala1226Gly) c.3725C>G (p.Ala1242Gly) c.3785C>G (p.Ala1262Gly) c.3335C>G (p.Ala1112Gly) c.1637C>G (p.Ala546Gly) c.1454C>G (p.Ala485Gly) c.3686C>G (p.Ala1229Gly) c.3638C>G (p.Ala1213Gly) c.3407C>G (p.Ala1136Gly) c.3308C>G (p.Ala1103Gly) c.2489C>G (p.Ala830Gly) n.4040C>G | |
13 | g.51937558G= | CA2091553966 | ATP7B | c.*1471C= (n.*1471C=) c.*2565C= (n.*2565C=) c.3200C= (p.Ala1067=) c.3821C= (p.Ala1274=) c.3488C= (p.Ala1163=) c.3569C= (p.Ala1190=) n.1062C= c.3587C= (p.Ala1196=) n.3960C= n.687C= c.2756C= (p.Ala919=) c.2531C= (p.Ala844=) c.3626C= (p.Ala1209=) c.1599C= c.*922C= (n.*922C=) n.4565C= n.3166C= c.3677C= (p.Ala1226=) c.3725C= (p.Ala1242=) c.3785C= (p.Ala1262=) c.3335C= (p.Ala1112=) c.1637C= (p.Ala546=) c.1454C= (p.Ala485=) c.3686C= (p.Ala1229=) c.3638C= (p.Ala1213=) c.3407C= (p.Ala1136=) c.3308C= (p.Ala1103=) c.2489C= (p.Ala830=) n.4040C= | |
13 | g.51937558G>T | CA388021878 | ATP7B | c.*1471C>A (n.*1471C>A) c.*2565C>A (n.*2565C>A) c.3200C>A (p.Ala1067Asp) c.3821C>A (p.Ala1274Asp) c.3488C>A (p.Ala1163Asp) c.3569C>A (p.Ala1190Asp) n.1062C>A c.3587C>A (p.Ala1196Asp) n.3960C>A n.687C>A c.2756C>A (p.Ala919Asp) c.2531C>A (p.Ala844Asp) c.3626C>A (p.Ala1209Asp) c.1599C>A c.*922C>A (n.*922C>A) n.4565C>A n.3166C>A c.3677C>A (p.Ala1226Asp) c.3725C>A (p.Ala1242Asp) c.3785C>A (p.Ala1262Asp) c.3335C>A (p.Ala1112Asp) c.1637C>A (p.Ala546Asp) c.1454C>A (p.Ala485Asp) c.3686C>A (p.Ala1229Asp) c.3638C>A (p.Ala1213Asp) c.3407C>A (p.Ala1136Asp) c.3308C>A (p.Ala1103Asp) c.2489C>A (p.Ala830Asp) n.4040C>A | |
13 | g.51937559C>A | CA388021880 | ATP7B | c.*1470G>T (n.*1470G>T) c.*2564G>T (n.*2564G>T) c.3199G>T (p.Ala1067Ser) c.3820G>T (p.Ala1274Ser) c.3487G>T (p.Ala1163Ser) c.3568G>T (p.Ala1190Ser) n.1061G>T c.3586G>T (p.Ala1196Ser) n.3959G>T n.686G>T c.2755G>T (p.Ala919Ser) c.2530G>T (p.Ala844Ser) c.3625G>T (p.Ala1209Ser) c.1598G>T c.*921G>T (n.*921G>T) n.4564G>T n.3165G>T c.3676G>T (p.Ala1226Ser) c.3724G>T (p.Ala1242Ser) c.3784G>T (p.Ala1262Ser) c.3334G>T (p.Ala1112Ser) c.1636G>T (p.Ala546Ser) c.1453G>T (p.Ala485Ser) c.3685G>T (p.Ala1229Ser) c.3637G>T (p.Ala1213Ser) c.3406G>T (p.Ala1136Ser) c.3307G>T (p.Ala1103Ser) c.2488G>T (p.Ala830Ser) n.4039G>T | |
13 | g.51937559C>G | CA388021884 | ATP7B | c.*1470G>C (n.*1470G>C) c.*2564G>C (n.*2564G>C) c.3199G>C (p.Ala1067Pro) c.3820G>C (p.Ala1274Pro) c.3487G>C (p.Ala1163Pro) c.3568G>C (p.Ala1190Pro) n.1061G>C c.3586G>C (p.Ala1196Pro) n.3959G>C n.686G>C c.2755G>C (p.Ala919Pro) c.2530G>C (p.Ala844Pro) c.3625G>C (p.Ala1209Pro) c.1598G>C c.*921G>C (n.*921G>C) n.4564G>C n.3165G>C c.3676G>C (p.Ala1226Pro) c.3724G>C (p.Ala1242Pro) c.3784G>C (p.Ala1262Pro) c.3334G>C (p.Ala1112Pro) c.1636G>C (p.Ala546Pro) c.1453G>C (p.Ala485Pro) c.3685G>C (p.Ala1229Pro) c.3637G>C (p.Ala1213Pro) c.3406G>C (p.Ala1136Pro) c.3307G>C (p.Ala1103Pro) c.2488G>C (p.Ala830Pro) n.4039G>C | |
13 | g.51937559C>T | CA388021882 | ATP7B | c.*1470G>A (n.*1470G>A) c.*2564G>A (n.*2564G>A) c.3199G>A (p.Ala1067Thr) c.3820G>A (p.Ala1274Thr) c.3487G>A (p.Ala1163Thr) c.3568G>A (p.Ala1190Thr) n.1061G>A c.3586G>A (p.Ala1196Thr) n.3959G>A n.686G>A c.2755G>A (p.Ala919Thr) c.2530G>A (p.Ala844Thr) c.3625G>A (p.Ala1209Thr) c.1598G>A c.*921G>A (n.*921G>A) n.4564G>A n.3165G>A c.3676G>A (p.Ala1226Thr) c.3724G>A (p.Ala1242Thr) c.3784G>A (p.Ala1262Thr) c.3334G>A (p.Ala1112Thr) c.1636G>A (p.Ala546Thr) c.1453G>A (p.Ala485Thr) c.3685G>A (p.Ala1229Thr) c.3637G>A (p.Ala1213Thr) c.3406G>A (p.Ala1136Thr) c.3307G>A (p.Ala1103Thr) c.2488G>A (p.Ala830Thr) n.4039G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51937560C>A | CA484024326 | ATP7B | c.*1469G>T (n.*1469G>T) c.*2563G>T (n.*2563G>T) c.3198G>T (p.Pro1066=) c.3819G>T (p.Pro1273=) c.3486G>T (p.Pro1162=) c.3567G>T (p.Pro1189=) n.1060G>T c.3585G>T (p.Pro1195=) n.3958G>T n.685G>T c.2754G>T (p.Pro918=) c.2529G>T (p.Pro843=) c.3624G>T (p.Pro1208=) c.1597G>T c.*920G>T (n.*920G>T) n.4563G>T n.3164G>T c.3675G>T (p.Pro1225=) c.3723G>T (p.Pro1241=) c.3783G>T (p.Pro1261=) c.3333G>T (p.Pro1111=) c.1635G>T (p.Pro545=) c.1452G>T (p.Pro484=) c.3684G>T (p.Pro1228=) c.3636G>T (p.Pro1212=) c.3405G>T (p.Pro1135=) c.3306G>T (p.Pro1102=) c.2487G>T (p.Pro829=) n.4038G>T | |
13 | g.51937560C= | CA2091553972 | ATP7B | c.*1469G= (n.*1469G=) c.*2563G= (n.*2563G=) c.3198G= (p.Pro1066=) c.3819G= (p.Pro1273=) c.3486G= (p.Pro1162=) c.3567G= (p.Pro1189=) n.1060G= c.3585G= (p.Pro1195=) n.3958G= n.685G= c.2754G= (p.Pro918=) c.2529G= (p.Pro843=) c.3624G= (p.Pro1208=) c.1597G= c.*920G= (n.*920G=) n.4563G= n.3164G= c.3675G= (p.Pro1225=) c.3723G= (p.Pro1241=) c.3783G= (p.Pro1261=) c.3333G= (p.Pro1111=) c.1635G= (p.Pro545=) c.1452G= (p.Pro484=) c.3684G= (p.Pro1228=) c.3636G= (p.Pro1212=) c.3405G= (p.Pro1135=) c.3306G= (p.Pro1102=) c.2487G= (p.Pro829=) n.4038G= | |
13 | g.51937560C>G | CA484024327 | ATP7B | c.*1469G>C (n.*1469G>C) c.*2563G>C (n.*2563G>C) c.3198G>C (p.Pro1066=) c.3819G>C (p.Pro1273=) c.3486G>C (p.Pro1162=) c.3567G>C (p.Pro1189=) n.1060G>C c.3585G>C (p.Pro1195=) n.3958G>C n.685G>C c.2754G>C (p.Pro918=) c.2529G>C (p.Pro843=) c.3624G>C (p.Pro1208=) c.1597G>C c.*920G>C (n.*920G>C) n.4563G>C n.3164G>C c.3675G>C (p.Pro1225=) c.3723G>C (p.Pro1241=) c.3783G>C (p.Pro1261=) c.3333G>C (p.Pro1111=) c.1635G>C (p.Pro545=) c.1452G>C (p.Pro484=) c.3684G>C (p.Pro1228=) c.3636G>C (p.Pro1212=) c.3405G>C (p.Pro1135=) c.3306G>C (p.Pro1102=) c.2487G>C (p.Pro829=) n.4038G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937560C>T | CA6988564 | ATP7B | c.*1469G>A (n.*1469G>A) c.*2563G>A (n.*2563G>A) c.3198G>A (p.Pro1066=) c.3819G>A (p.Pro1273=) c.3486G>A (p.Pro1162=) c.3567G>A (p.Pro1189=) n.1060G>A c.3585G>A (p.Pro1195=) n.3958G>A n.685G>A c.2754G>A (p.Pro918=) c.2529G>A (p.Pro843=) c.3624G>A (p.Pro1208=) c.1597G>A c.*920G>A (n.*920G>A) n.4563G>A n.3164G>A c.3675G>A (p.Pro1225=) c.3723G>A (p.Pro1241=) c.3783G>A (p.Pro1261=) c.3333G>A (p.Pro1111=) c.1635G>A (p.Pro545=) c.1452G>A (p.Pro484=) c.3684G>A (p.Pro1228=) c.3636G>A (p.Pro1212=) c.3405G>A (p.Pro1135=) c.3306G>A (p.Pro1102=) c.2487G>A (p.Pro829=) n.4038G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937561G>A | CA274408 | ATP7B | c.*1468C>T (n.*1468C>T) c.*2562C>T (n.*2562C>T) c.3197C>T (p.Pro1066Leu) c.3818C>T (p.Pro1273Leu) c.3485C>T (p.Pro1162Leu) c.3566C>T (p.Pro1189Leu) n.1059C>T c.3584C>T (p.Pro1195Leu) n.3957C>T n.684C>T c.2753C>T (p.Pro918Leu) c.2528C>T (p.Pro843Leu) c.3623C>T (p.Pro1208Leu) c.1596C>T c.*919C>T (n.*919C>T) n.4562C>T n.3163C>T c.3674C>T (p.Pro1225Leu) c.3722C>T (p.Pro1241Leu) c.3782C>T (p.Pro1261Leu) c.3332C>T (p.Pro1111Leu) c.1634C>T (p.Pro545Leu) c.1451C>T (p.Pro484Leu) c.3683C>T (p.Pro1228Leu) c.3635C>T (p.Pro1212Leu) c.3404C>T (p.Pro1135Leu) c.3305C>T (p.Pro1102Leu) c.2486C>T (p.Pro829Leu) n.4037C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937561G>C | CA388021892 | ATP7B | c.*1468C>G (n.*1468C>G) c.*2562C>G (n.*2562C>G) c.3197C>G (p.Pro1066Arg) c.3818C>G (p.Pro1273Arg) c.3485C>G (p.Pro1162Arg) c.3566C>G (p.Pro1189Arg) n.1059C>G c.3584C>G (p.Pro1195Arg) n.3957C>G n.684C>G c.2753C>G (p.Pro918Arg) c.2528C>G (p.Pro843Arg) c.3623C>G (p.Pro1208Arg) c.1596C>G c.*919C>G (n.*919C>G) n.4562C>G n.3163C>G c.3674C>G (p.Pro1225Arg) c.3722C>G (p.Pro1241Arg) c.3782C>G (p.Pro1261Arg) c.3332C>G (p.Pro1111Arg) c.1634C>G (p.Pro545Arg) c.1451C>G (p.Pro484Arg) c.3683C>G (p.Pro1228Arg) c.3635C>G (p.Pro1212Arg) c.3404C>G (p.Pro1135Arg) c.3305C>G (p.Pro1102Arg) c.2486C>G (p.Pro829Arg) n.4037C>G | |
13 | g.51937561G= | CA2091553976 | ATP7B | c.*1468C= (n.*1468C=) c.*2562C= (n.*2562C=) c.3197C= (p.Pro1066=) c.3818C= (p.Pro1273=) c.3485C= (p.Pro1162=) c.3566C= (p.Pro1189=) n.1059C= c.3584C= (p.Pro1195=) n.3957C= n.684C= c.2753C= (p.Pro918=) c.2528C= (p.Pro843=) c.3623C= (p.Pro1208=) c.1596C= c.*919C= (n.*919C=) n.4562C= n.3163C= c.3674C= (p.Pro1225=) c.3722C= (p.Pro1241=) c.3782C= (p.Pro1261=) c.3332C= (p.Pro1111=) c.1634C= (p.Pro545=) c.1451C= (p.Pro484=) c.3683C= (p.Pro1228=) c.3635C= (p.Pro1212=) c.3404C= (p.Pro1135=) c.3305C= (p.Pro1102=) c.2486C= (p.Pro829=) n.4037C= | |
13 | g.51937561G>T | CA388021893 | ATP7B | c.*1468C>A (n.*1468C>A) c.*2562C>A (n.*2562C>A) c.3197C>A (p.Pro1066Gln) c.3818C>A (p.Pro1273Gln) c.3485C>A (p.Pro1162Gln) c.3566C>A (p.Pro1189Gln) n.1059C>A c.3584C>A (p.Pro1195Gln) n.3957C>A n.684C>A c.2753C>A (p.Pro918Gln) c.2528C>A (p.Pro843Gln) c.3623C>A (p.Pro1208Gln) c.1596C>A c.*919C>A (n.*919C>A) n.4562C>A n.3163C>A c.3674C>A (p.Pro1225Gln) c.3722C>A (p.Pro1241Gln) c.3782C>A (p.Pro1261Gln) c.3332C>A (p.Pro1111Gln) c.1634C>A (p.Pro545Gln) c.1451C>A (p.Pro484Gln) c.3683C>A (p.Pro1228Gln) c.3635C>A (p.Pro1212Gln) c.3404C>A (p.Pro1135Gln) c.3305C>A (p.Pro1102Gln) c.2486C>A (p.Pro829Gln) n.4037C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937562G>A | CA388021894 | ATP7B | c.*1467C>T (n.*1467C>T) c.*2561C>T (n.*2561C>T) c.3196C>T (p.Pro1066Ser) c.3817C>T (p.Pro1273Ser) c.3484C>T (p.Pro1162Ser) c.3565C>T (p.Pro1189Ser) n.1058C>T c.3583C>T (p.Pro1195Ser) n.3956C>T n.683C>T c.2752C>T (p.Pro918Ser) c.2527C>T (p.Pro843Ser) c.3622C>T (p.Pro1208Ser) c.1595C>T c.*918C>T (n.*918C>T) n.4561C>T n.3162C>T c.3673C>T (p.Pro1225Ser) c.3721C>T (p.Pro1241Ser) c.3781C>T (p.Pro1261Ser) c.3331C>T (p.Pro1111Ser) c.1633C>T (p.Pro545Ser) c.1450C>T (p.Pro484Ser) c.3682C>T (p.Pro1228Ser) c.3634C>T (p.Pro1212Ser) c.3403C>T (p.Pro1135Ser) c.3304C>T (p.Pro1102Ser) c.2485C>T (p.Pro829Ser) n.4036C>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937562G>C | CA388021902 | ATP7B | c.*1467C>G (n.*1467C>G) c.*2561C>G (n.*2561C>G) c.3196C>G (p.Pro1066Ala) c.3817C>G (p.Pro1273Ala) c.3484C>G (p.Pro1162Ala) c.3565C>G (p.Pro1189Ala) n.1058C>G c.3583C>G (p.Pro1195Ala) n.3956C>G n.683C>G c.2752C>G (p.Pro918Ala) c.2527C>G (p.Pro843Ala) c.3622C>G (p.Pro1208Ala) c.1595C>G c.*918C>G (n.*918C>G) n.4561C>G n.3162C>G c.3673C>G (p.Pro1225Ala) c.3721C>G (p.Pro1241Ala) c.3781C>G (p.Pro1261Ala) c.3331C>G (p.Pro1111Ala) c.1633C>G (p.Pro545Ala) c.1450C>G (p.Pro484Ala) c.3682C>G (p.Pro1228Ala) c.3634C>G (p.Pro1212Ala) c.3403C>G (p.Pro1135Ala) c.3304C>G (p.Pro1102Ala) c.2485C>G (p.Pro829Ala) n.4036C>G | |
13 | g.51937562G= | CA2091553983 | ATP7B | c.*1467C= (n.*1467C=) c.*2561C= (n.*2561C=) c.3196C= (p.Pro1066=) c.3817C= (p.Pro1273=) c.3484C= (p.Pro1162=) c.3565C= (p.Pro1189=) n.1058C= c.3583C= (p.Pro1195=) n.3956C= n.683C= c.2752C= (p.Pro918=) c.2527C= (p.Pro843=) c.3622C= (p.Pro1208=) c.1595C= c.*918C= (n.*918C=) n.4561C= n.3162C= c.3673C= (p.Pro1225=) c.3721C= (p.Pro1241=) c.3781C= (p.Pro1261=) c.3331C= (p.Pro1111=) c.1633C= (p.Pro545=) c.1450C= (p.Pro484=) c.3682C= (p.Pro1228=) c.3634C= (p.Pro1212=) c.3403C= (p.Pro1135=) c.3304C= (p.Pro1102=) c.2485C= (p.Pro829=) n.4036C= | |
13 | g.51937562G>T | CA388021906 | ATP7B | c.*1467C>A (n.*1467C>A) c.*2561C>A (n.*2561C>A) c.3196C>A (p.Pro1066Thr) c.3817C>A (p.Pro1273Thr) c.3484C>A (p.Pro1162Thr) c.3565C>A (p.Pro1189Thr) n.1058C>A c.3583C>A (p.Pro1195Thr) n.3956C>A n.683C>A c.2752C>A (p.Pro918Thr) c.2527C>A (p.Pro843Thr) c.3622C>A (p.Pro1208Thr) c.1595C>A c.*918C>A (n.*918C>A) n.4561C>A n.3162C>A c.3673C>A (p.Pro1225Thr) c.3721C>A (p.Pro1241Thr) c.3781C>A (p.Pro1261Thr) c.3331C>A (p.Pro1111Thr) c.1633C>A (p.Pro545Thr) c.1450C>A (p.Pro484Thr) c.3682C>A (p.Pro1228Thr) c.3634C>A (p.Pro1212Thr) c.3403C>A (p.Pro1135Thr) c.3304C>A (p.Pro1102Thr) c.2485C>A (p.Pro829Thr) n.4036C>A | COSMIC |
13 | g.51937563G>A | CA484024328 | ATP7B | c.*1466C>T (n.*1466C>T) c.*2560C>T (n.*2560C>T) c.3195C>T (p.Ser1065=) c.3816C>T (p.Ser1272=) c.3483C>T (p.Ser1161=) c.3564C>T (p.Ser1188=) n.1057C>T c.3582C>T (p.Ser1194=) n.3955C>T n.682C>T c.2751C>T (p.Ser917=) c.2526C>T (p.Ser842=) c.3621C>T (p.Ser1207=) c.1594C>T c.*917C>T (n.*917C>T) n.4560C>T n.3161C>T c.3672C>T (p.Ser1224=) c.3720C>T (p.Ser1240=) c.3780C>T (p.Ser1260=) c.3330C>T (p.Ser1110=) c.1632C>T (p.Ser544=) c.1449C>T (p.Ser483=) c.3681C>T (p.Ser1227=) c.3633C>T (p.Ser1211=) c.3402C>T (p.Ser1134=) c.3303C>T (p.Ser1101=) c.2484C>T (p.Ser828=) n.4035C>T | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.51937563G>C | CA484024329 | ATP7B | c.*1466C>G (n.*1466C>G) c.*2560C>G (n.*2560C>G) c.3195C>G (p.Ser1065=) c.3816C>G (p.Ser1272=) c.3483C>G (p.Ser1161=) c.3564C>G (p.Ser1188=) n.1057C>G c.3582C>G (p.Ser1194=) n.3955C>G n.682C>G c.2751C>G (p.Ser917=) c.2526C>G (p.Ser842=) c.3621C>G (p.Ser1207=) c.1594C>G c.*917C>G (n.*917C>G) n.4560C>G n.3161C>G c.3672C>G (p.Ser1224=) c.3720C>G (p.Ser1240=) c.3780C>G (p.Ser1260=) c.3330C>G (p.Ser1110=) c.1632C>G (p.Ser544=) c.1449C>G (p.Ser483=) c.3681C>G (p.Ser1227=) c.3633C>G (p.Ser1211=) c.3402C>G (p.Ser1134=) c.3303C>G (p.Ser1101=) c.2484C>G (p.Ser828=) n.4035C>G | |
13 | g.51937563G>T | CA484024330 | ATP7B | c.*1466C>A (n.*1466C>A) c.*2560C>A (n.*2560C>A) c.3195C>A (p.Ser1065=) c.3816C>A (p.Ser1272=) c.3483C>A (p.Ser1161=) c.3564C>A (p.Ser1188=) n.1057C>A c.3582C>A (p.Ser1194=) n.3955C>A n.682C>A c.2751C>A (p.Ser917=) c.2526C>A (p.Ser842=) c.3621C>A (p.Ser1207=) c.1594C>A c.*917C>A (n.*917C>A) n.4560C>A n.3161C>A c.3672C>A (p.Ser1224=) c.3720C>A (p.Ser1240=) c.3780C>A (p.Ser1260=) c.3330C>A (p.Ser1110=) c.1632C>A (p.Ser544=) c.1449C>A (p.Ser483=) c.3681C>A (p.Ser1227=) c.3633C>A (p.Ser1211=) c.3402C>A (p.Ser1134=) c.3303C>A (p.Ser1101=) c.2484C>A (p.Ser828=) n.4035C>A | |
13 | g.51937564G>A | CA388021909 | ATP7B | c.*1465C>T (n.*1465C>T) c.*2559C>T (n.*2559C>T) c.3194C>T (p.Ser1065Phe) c.3815C>T (p.Ser1272Phe) c.3482C>T (p.Ser1161Phe) c.3563C>T (p.Ser1188Phe) n.1056C>T c.3581C>T (p.Ser1194Phe) n.3954C>T n.681C>T c.2750C>T (p.Ser917Phe) c.2525C>T (p.Ser842Phe) c.3620C>T (p.Ser1207Phe) c.1593C>T c.*916C>T (n.*916C>T) n.4559C>T n.3160C>T c.3671C>T (p.Ser1224Phe) c.3719C>T (p.Ser1240Phe) c.3779C>T (p.Ser1260Phe) c.3329C>T (p.Ser1110Phe) c.1631C>T (p.Ser544Phe) c.1448C>T (p.Ser483Phe) c.3680C>T (p.Ser1227Phe) c.3632C>T (p.Ser1211Phe) c.3401C>T (p.Ser1134Phe) c.3302C>T (p.Ser1101Phe) c.2483C>T (p.Ser828Phe) n.4034C>T | COSMIC |
13 | g.51937564G>C | CA388021913 | ATP7B | c.*1465C>G (n.*1465C>G) c.*2559C>G (n.*2559C>G) c.3194C>G (p.Ser1065Cys) c.3815C>G (p.Ser1272Cys) c.3482C>G (p.Ser1161Cys) c.3563C>G (p.Ser1188Cys) n.1056C>G c.3581C>G (p.Ser1194Cys) n.3954C>G n.681C>G c.2750C>G (p.Ser917Cys) c.2525C>G (p.Ser842Cys) c.3620C>G (p.Ser1207Cys) c.1593C>G c.*916C>G (n.*916C>G) n.4559C>G n.3160C>G c.3671C>G (p.Ser1224Cys) c.3719C>G (p.Ser1240Cys) c.3779C>G (p.Ser1260Cys) c.3329C>G (p.Ser1110Cys) c.1631C>G (p.Ser544Cys) c.1448C>G (p.Ser483Cys) c.3680C>G (p.Ser1227Cys) c.3632C>G (p.Ser1211Cys) c.3401C>G (p.Ser1134Cys) c.3302C>G (p.Ser1101Cys) c.2483C>G (p.Ser828Cys) n.4034C>G | dbSNP gnomAD v4 |
13 | g.51937564G= | CA2091553988 | ATP7B | c.*1465C= (n.*1465C=) c.*2559C= (n.*2559C=) c.3194C= (p.Ser1065=) c.3815C= (p.Ser1272=) c.3482C= (p.Ser1161=) c.3563C= (p.Ser1188=) n.1056C= c.3581C= (p.Ser1194=) n.3954C= n.681C= c.2750C= (p.Ser917=) c.2525C= (p.Ser842=) c.3620C= (p.Ser1207=) c.1593C= c.*916C= (n.*916C=) n.4559C= n.3160C= c.3671C= (p.Ser1224=) c.3719C= (p.Ser1240=) c.3779C= (p.Ser1260=) c.3329C= (p.Ser1110=) c.1631C= (p.Ser544=) c.1448C= (p.Ser483=) c.3680C= (p.Ser1227=) c.3632C= (p.Ser1211=) c.3401C= (p.Ser1134=) c.3302C= (p.Ser1101=) c.2483C= (p.Ser828=) n.4034C= | |
13 | g.51937564G>T | CA388021924 | ATP7B | c.*1465C>A (n.*1465C>A) c.*2559C>A (n.*2559C>A) c.3194C>A (p.Ser1065Tyr) c.3815C>A (p.Ser1272Tyr) c.3482C>A (p.Ser1161Tyr) c.3563C>A (p.Ser1188Tyr) n.1056C>A c.3581C>A (p.Ser1194Tyr) n.3954C>A n.681C>A c.2750C>A (p.Ser917Tyr) c.2525C>A (p.Ser842Tyr) c.3620C>A (p.Ser1207Tyr) c.1593C>A c.*916C>A (n.*916C>A) n.4559C>A n.3160C>A c.3671C>A (p.Ser1224Tyr) c.3719C>A (p.Ser1240Tyr) c.3779C>A (p.Ser1260Tyr) c.3329C>A (p.Ser1110Tyr) c.1631C>A (p.Ser544Tyr) c.1448C>A (p.Ser483Tyr) c.3680C>A (p.Ser1227Tyr) c.3632C>A (p.Ser1211Tyr) c.3401C>A (p.Ser1134Tyr) c.3302C>A (p.Ser1101Tyr) c.2483C>A (p.Ser828Tyr) n.4034C>A | ClinVar |
13 | g.51937565A>C | CA388021930 | ATP7B | c.*1464T>G (n.*1464T>G) c.*2558T>G (n.*2558T>G) c.3193T>G (p.Ser1065Ala) c.3814T>G (p.Ser1272Ala) c.3481T>G (p.Ser1161Ala) c.3562T>G (p.Ser1188Ala) n.1055T>G c.3580T>G (p.Ser1194Ala) n.3953T>G n.680T>G c.2749T>G (p.Ser917Ala) c.2524T>G (p.Ser842Ala) c.3619T>G (p.Ser1207Ala) c.1592T>G c.*915T>G (n.*915T>G) n.4558T>G n.3159T>G c.3670T>G (p.Ser1224Ala) c.3718T>G (p.Ser1240Ala) c.3778T>G (p.Ser1260Ala) c.3328T>G (p.Ser1110Ala) c.1630T>G (p.Ser544Ala) c.1447T>G (p.Ser483Ala) c.3679T>G (p.Ser1227Ala) c.3631T>G (p.Ser1211Ala) c.3400T>G (p.Ser1134Ala) c.3301T>G (p.Ser1101Ala) c.2482T>G (p.Ser828Ala) n.4033T>G | |
13 | g.51937565A>G | CA388021935 | ATP7B | c.*1464T>C (n.*1464T>C) c.*2558T>C (n.*2558T>C) c.3193T>C (p.Ser1065Pro) c.3814T>C (p.Ser1272Pro) c.3481T>C (p.Ser1161Pro) c.3562T>C (p.Ser1188Pro) n.1055T>C c.3580T>C (p.Ser1194Pro) n.3953T>C n.680T>C c.2749T>C (p.Ser917Pro) c.2524T>C (p.Ser842Pro) c.3619T>C (p.Ser1207Pro) c.1592T>C c.*915T>C (n.*915T>C) n.4558T>C n.3159T>C c.3670T>C (p.Ser1224Pro) c.3718T>C (p.Ser1240Pro) c.3778T>C (p.Ser1260Pro) c.3328T>C (p.Ser1110Pro) c.1630T>C (p.Ser544Pro) c.1447T>C (p.Ser483Pro) c.3679T>C (p.Ser1227Pro) c.3631T>C (p.Ser1211Pro) c.3400T>C (p.Ser1134Pro) c.3301T>C (p.Ser1101Pro) c.2482T>C (p.Ser828Pro) n.4033T>C | |
13 | g.51937565A>T | CA388021928 | ATP7B | c.*1464T>A (n.*1464T>A) c.*2558T>A (n.*2558T>A) c.3193T>A (p.Ser1065Thr) c.3814T>A (p.Ser1272Thr) c.3481T>A (p.Ser1161Thr) c.3562T>A (p.Ser1188Thr) n.1055T>A c.3580T>A (p.Ser1194Thr) n.3953T>A n.680T>A c.2749T>A (p.Ser917Thr) c.2524T>A (p.Ser842Thr) c.3619T>A (p.Ser1207Thr) c.1592T>A c.*915T>A (n.*915T>A) n.4558T>A n.3159T>A c.3670T>A (p.Ser1224Thr) c.3718T>A (p.Ser1240Thr) c.3778T>A (p.Ser1260Thr) c.3328T>A (p.Ser1110Thr) c.1630T>A (p.Ser544Thr) c.1447T>A (p.Ser483Thr) c.3679T>A (p.Ser1227Thr) c.3631T>A (p.Ser1211Thr) c.3400T>A (p.Ser1134Thr) c.3301T>A (p.Ser1101Thr) c.2482T>A (p.Ser828Thr) n.4033T>A | gnomAD v4 |
13 | g.51937566G>A | CA484024331 | ATP7B | c.*1463C>T (n.*1463C>T) c.*2557C>T (n.*2557C>T) c.3192C>T (p.Asp1064=) c.3813C>T (p.Asp1271=) c.3480C>T (p.Asp1160=) c.3561C>T (p.Asp1187=) n.1054C>T c.3579C>T (p.Asp1193=) n.3952C>T n.679C>T c.2748C>T (p.Asp916=) c.2523C>T (p.Asp841=) c.3618C>T (p.Asp1206=) c.1591C>T c.*914C>T (n.*914C>T) n.4557C>T n.3158C>T c.3669C>T (p.Asp1223=) c.3717C>T (p.Asp1239=) c.3777C>T (p.Asp1259=) c.3327C>T (p.Asp1109=) c.1629C>T (p.Asp543=) c.1446C>T (p.Asp482=) c.3678C>T (p.Asp1226=) c.3630C>T (p.Asp1210=) c.3399C>T (p.Asp1133=) c.3300C>T (p.Asp1100=) c.2481C>T (p.Asp827=) n.4032C>T | ClinVar |
13 | g.51937566G>C | CA388021936 | ATP7B | c.*1463C>G (n.*1463C>G) c.*2557C>G (n.*2557C>G) c.3192C>G (p.Asp1064Glu) c.3813C>G (p.Asp1271Glu) c.3480C>G (p.Asp1160Glu) c.3561C>G (p.Asp1187Glu) n.1054C>G c.3579C>G (p.Asp1193Glu) n.3952C>G n.679C>G c.2748C>G (p.Asp916Glu) c.2523C>G (p.Asp841Glu) c.3618C>G (p.Asp1206Glu) c.1591C>G c.*914C>G (n.*914C>G) n.4557C>G n.3158C>G c.3669C>G (p.Asp1223Glu) c.3717C>G (p.Asp1239Glu) c.3777C>G (p.Asp1259Glu) c.3327C>G (p.Asp1109Glu) c.1629C>G (p.Asp543Glu) c.1446C>G (p.Asp482Glu) c.3678C>G (p.Asp1226Glu) c.3630C>G (p.Asp1210Glu) c.3399C>G (p.Asp1133Glu) c.3300C>G (p.Asp1100Glu) c.2481C>G (p.Asp827Glu) n.4032C>G | |
13 | g.51937566G= | CA2091553992 | ATP7B | c.*1463C= (n.*1463C=) c.*2557C= (n.*2557C=) c.3192C= (p.Asp1064=) c.3813C= (p.Asp1271=) c.3480C= (p.Asp1160=) c.3561C= (p.Asp1187=) n.1054C= c.3579C= (p.Asp1193=) n.3952C= n.679C= c.2748C= (p.Asp916=) c.2523C= (p.Asp841=) c.3618C= (p.Asp1206=) c.1591C= c.*914C= (n.*914C=) n.4557C= n.3158C= c.3669C= (p.Asp1223=) c.3717C= (p.Asp1239=) c.3777C= (p.Asp1259=) c.3327C= (p.Asp1109=) c.1629C= (p.Asp543=) c.1446C= (p.Asp482=) c.3678C= (p.Asp1226=) c.3630C= (p.Asp1210=) c.3399C= (p.Asp1133=) c.3300C= (p.Asp1100=) c.2481C= (p.Asp827=) n.4032C= | |
13 | g.51937566G>T | CA388021939 | ATP7B | c.*1463C>A (n.*1463C>A) c.*2557C>A (n.*2557C>A) c.3192C>A (p.Asp1064Glu) c.3813C>A (p.Asp1271Glu) c.3480C>A (p.Asp1160Glu) c.3561C>A (p.Asp1187Glu) n.1054C>A c.3579C>A (p.Asp1193Glu) n.3952C>A n.679C>A c.2748C>A (p.Asp916Glu) c.2523C>A (p.Asp841Glu) c.3618C>A (p.Asp1206Glu) c.1591C>A c.*914C>A (n.*914C>A) n.4557C>A n.3158C>A c.3669C>A (p.Asp1223Glu) c.3717C>A (p.Asp1239Glu) c.3777C>A (p.Asp1259Glu) c.3327C>A (p.Asp1109Glu) c.1629C>A (p.Asp543Glu) c.1446C>A (p.Asp482Glu) c.3678C>A (p.Asp1226Glu) c.3630C>A (p.Asp1210Glu) c.3399C>A (p.Asp1133Glu) c.3300C>A (p.Asp1100Glu) c.2481C>A (p.Asp827Glu) n.4032C>A | |
13 | g.51937567T>A | CA388021940 | ATP7B | c.*1462A>T (n.*1462A>T) c.*2556A>T (n.*2556A>T) c.3191A>T (p.Asp1064Val) c.3812A>T (p.Asp1271Val) c.3479A>T (p.Asp1160Val) c.3560A>T (p.Asp1187Val) n.1053A>T c.3578A>T (p.Asp1193Val) n.3951A>T n.678A>T c.2747A>T (p.Asp916Val) c.2522A>T (p.Asp841Val) c.3617A>T (p.Asp1206Val) c.1590A>T c.*913A>T (n.*913A>T) n.4556A>T n.3157A>T c.3668A>T (p.Asp1223Val) c.3716A>T (p.Asp1239Val) c.3776A>T (p.Asp1259Val) c.3326A>T (p.Asp1109Val) c.1628A>T (p.Asp543Val) c.1445A>T (p.Asp482Val) c.3677A>T (p.Asp1226Val) c.3629A>T (p.Asp1210Val) c.3398A>T (p.Asp1133Val) c.3299A>T (p.Asp1100Val) c.2480A>T (p.Asp827Val) n.4031A>T | dbSNP |
13 | g.51937567T>C | CA388021943 | ATP7B | c.*1462A>G (n.*1462A>G) c.*2556A>G (n.*2556A>G) c.3191A>G (p.Asp1064Gly) c.3812A>G (p.Asp1271Gly) c.3479A>G (p.Asp1160Gly) c.3560A>G (p.Asp1187Gly) n.1053A>G c.3578A>G (p.Asp1193Gly) n.3951A>G n.678A>G c.2747A>G (p.Asp916Gly) c.2522A>G (p.Asp841Gly) c.3617A>G (p.Asp1206Gly) c.1590A>G c.*913A>G (n.*913A>G) n.4556A>G n.3157A>G c.3668A>G (p.Asp1223Gly) c.3716A>G (p.Asp1239Gly) c.3776A>G (p.Asp1259Gly) c.3326A>G (p.Asp1109Gly) c.1628A>G (p.Asp543Gly) c.1445A>G (p.Asp482Gly) c.3677A>G (p.Asp1226Gly) c.3629A>G (p.Asp1210Gly) c.3398A>G (p.Asp1133Gly) c.3299A>G (p.Asp1100Gly) c.2480A>G (p.Asp827Gly) n.4031A>G | ClinVar |
13 | g.51937567T>G | CA388021944 | ATP7B | c.*1462A>C (n.*1462A>C) c.*2556A>C (n.*2556A>C) c.3191A>C (p.Asp1064Ala) c.3812A>C (p.Asp1271Ala) c.3479A>C (p.Asp1160Ala) c.3560A>C (p.Asp1187Ala) n.1053A>C c.3578A>C (p.Asp1193Ala) n.3951A>C n.678A>C c.2747A>C (p.Asp916Ala) c.2522A>C (p.Asp841Ala) c.3617A>C (p.Asp1206Ala) c.1590A>C c.*913A>C (n.*913A>C) n.4556A>C n.3157A>C c.3668A>C (p.Asp1223Ala) c.3716A>C (p.Asp1239Ala) c.3776A>C (p.Asp1259Ala) c.3326A>C (p.Asp1109Ala) c.1628A>C (p.Asp543Ala) c.1445A>C (p.Asp482Ala) c.3677A>C (p.Asp1226Ala) c.3629A>C (p.Asp1210Ala) c.3398A>C (p.Asp1133Ala) c.3299A>C (p.Asp1100Ala) c.2480A>C (p.Asp827Ala) n.4031A>C | |
13 | g.51937567T= | CA2091553999 | ATP7B | c.*1462A= (n.*1462A=) c.*2556A= (n.*2556A=) c.3191A= (p.Asp1064=) c.3812A= (p.Asp1271=) c.3479A= (p.Asp1160=) c.3560A= (p.Asp1187=) n.1053A= c.3578A= (p.Asp1193=) n.3951A= n.678A= c.2747A= (p.Asp916=) c.2522A= (p.Asp841=) c.3617A= (p.Asp1206=) c.1590A= c.*913A= (n.*913A=) n.4556A= n.3157A= c.3668A= (p.Asp1223=) c.3716A= (p.Asp1239=) c.3776A= (p.Asp1259=) c.3326A= (p.Asp1109=) c.1628A= (p.Asp543=) c.1445A= (p.Asp482=) c.3677A= (p.Asp1226=) c.3629A= (p.Asp1210=) c.3398A= (p.Asp1133=) c.3299A= (p.Asp1100=) c.2480A= (p.Asp827=) n.4031A= | |
13 | g.51937567_51937571dup | CA956027112 | ATP7B | c.*1458_*1462dup (n.*1458_*1462dup) c.*2552_*2556dup (n.*2552_*2556dup) c.3187_3191dup (p.Asp1064GlufsTer?) c.3808_3812dup (p.Asp1271GlufsTer?) c.3475_3479dup (p.Asp1160GlufsTer?) c.3556_3560dup (p.Asp1187GlufsTer?) n.1049_1053dup c.3574_3578dup (p.Asp1193GlufsTer?) n.3947_3951dup n.674_678dup c.2743_2747dup (p.Asp916GlufsTer?) c.2518_2522dup (p.Asp841GlufsTer?) c.3613_3617dup (p.Asp1206GlufsTer?) c.1586_1590dup c.*909_*913dup (n.*909_*913dup) n.4552_4556dup n.3153_3157dup c.3664_3668dup (p.Asp1223GlufsTer?) c.3712_3716dup (p.Asp1239GlufsTer?) c.3772_3776dup (p.Asp1259GlufsTer?) c.3322_3326dup (p.Asp1109GlufsTer?) c.1624_1628dup (p.Asp543GlufsTer?) c.1441_1445dup (p.Asp482GlufsTer?) c.3673_3677dup (p.Asp1226GlufsTer?) c.3625_3629dup (p.Asp1210GlufsTer?) c.3394_3398dup (p.Asp1133GlufsTer?) c.3295_3299dup (p.Asp1100GlufsTer?) c.2476_2480dup (p.Asp827GlufsTer?) n.4027_4031dup | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937568C>A | CA388021949 | ATP7B | c.*1461G>T (n.*1461G>T) c.*2555G>T (n.*2555G>T) c.3190G>T (p.Asp1064Tyr) c.3811G>T (p.Asp1271Tyr) c.3478G>T (p.Asp1160Tyr) c.3559G>T (p.Asp1187Tyr) n.1052G>T c.3577G>T (p.Asp1193Tyr) n.3950G>T n.677G>T c.2746G>T (p.Asp916Tyr) c.2521G>T (p.Asp841Tyr) c.3616G>T (p.Asp1206Tyr) c.1589G>T c.*912G>T (n.*912G>T) n.4555G>T n.3156G>T c.3667G>T (p.Asp1223Tyr) c.3715G>T (p.Asp1239Tyr) c.3775G>T (p.Asp1259Tyr) c.3325G>T (p.Asp1109Tyr) c.1627G>T (p.Asp543Tyr) c.1444G>T (p.Asp482Tyr) c.3676G>T (p.Asp1226Tyr) c.3628G>T (p.Asp1210Tyr) c.3397G>T (p.Asp1133Tyr) c.3298G>T (p.Asp1100Tyr) c.2479G>T (p.Asp827Tyr) n.4030G>T | |
13 | g.51937568C>G | CA388021950 | ATP7B | c.*1461G>C (n.*1461G>C) c.*2555G>C (n.*2555G>C) c.3190G>C (p.Asp1064His) c.3811G>C (p.Asp1271His) c.3478G>C (p.Asp1160His) c.3559G>C (p.Asp1187His) n.1052G>C c.3577G>C (p.Asp1193His) n.3950G>C n.677G>C c.2746G>C (p.Asp916His) c.2521G>C (p.Asp841His) c.3616G>C (p.Asp1206His) c.1589G>C c.*912G>C (n.*912G>C) n.4555G>C n.3156G>C c.3667G>C (p.Asp1223His) c.3715G>C (p.Asp1239His) c.3775G>C (p.Asp1259His) c.3325G>C (p.Asp1109His) c.1627G>C (p.Asp543His) c.1444G>C (p.Asp482His) c.3676G>C (p.Asp1226His) c.3628G>C (p.Asp1210His) c.3397G>C (p.Asp1133His) c.3298G>C (p.Asp1100His) c.2479G>C (p.Asp827His) n.4030G>C | gnomAD v4 |
13 | g.51937568C>T | CA388021951 | ATP7B | c.*1461G>A (n.*1461G>A) c.*2555G>A (n.*2555G>A) c.3190G>A (p.Asp1064Asn) c.3811G>A (p.Asp1271Asn) c.3478G>A (p.Asp1160Asn) c.3559G>A (p.Asp1187Asn) n.1052G>A c.3577G>A (p.Asp1193Asn) n.3950G>A n.677G>A c.2746G>A (p.Asp916Asn) c.2521G>A (p.Asp841Asn) c.3616G>A (p.Asp1206Asn) c.1589G>A c.*912G>A (n.*912G>A) n.4555G>A n.3156G>A c.3667G>A (p.Asp1223Asn) c.3715G>A (p.Asp1239Asn) c.3775G>A (p.Asp1259Asn) c.3325G>A (p.Asp1109Asn) c.1627G>A (p.Asp543Asn) c.1444G>A (p.Asp482Asn) c.3676G>A (p.Asp1226Asn) c.3628G>A (p.Asp1210Asn) c.3397G>A (p.Asp1133Asn) c.3298G>A (p.Asp1100Asn) c.2479G>A (p.Asp827Asn) n.4030G>A | |
13 | g.51937569A>C | CA388021953 | ATP7B | c.*1460T>G (n.*1460T>G) c.*2554T>G (n.*2554T>G) c.3189T>G (p.Asn1063Lys) c.3810T>G (p.Asn1270Lys) c.3477T>G (p.Asn1159Lys) c.3558T>G (p.Asn1186Lys) n.1051T>G c.3576T>G (p.Asn1192Lys) n.3949T>G n.676T>G c.2745T>G (p.Asn915Lys) c.2520T>G (p.Asn840Lys) c.3615T>G (p.Asn1205Lys) c.1588T>G c.*911T>G (n.*911T>G) n.4554T>G n.3155T>G c.3666T>G (p.Asn1222Lys) c.3714T>G (p.Asn1238Lys) c.3774T>G (p.Asn1258Lys) c.3324T>G (p.Asn1108Lys) c.1626T>G (p.Asn542Lys) c.1443T>G (p.Asn481Lys) c.3675T>G (p.Asn1225Lys) c.3627T>G (p.Asn1209Lys) c.3396T>G (p.Asn1132Lys) c.3297T>G (p.Asn1099Lys) c.2478T>G (p.Asn826Lys) n.4029T>G | |
13 | g.51937569A>G | CA484024332 | ATP7B | c.*1460T>C (n.*1460T>C) c.*2554T>C (n.*2554T>C) c.3189T>C (p.Asn1063=) c.3810T>C (p.Asn1270=) c.3477T>C (p.Asn1159=) c.3558T>C (p.Asn1186=) n.1051T>C c.3576T>C (p.Asn1192=) n.3949T>C n.676T>C c.2745T>C (p.Asn915=) c.2520T>C (p.Asn840=) c.3615T>C (p.Asn1205=) c.1588T>C c.*911T>C (n.*911T>C) n.4554T>C n.3155T>C c.3666T>C (p.Asn1222=) c.3714T>C (p.Asn1238=) c.3774T>C (p.Asn1258=) c.3324T>C (p.Asn1108=) c.1626T>C (p.Asn542=) c.1443T>C (p.Asn481=) c.3675T>C (p.Asn1225=) c.3627T>C (p.Asn1209=) c.3396T>C (p.Asn1132=) c.3297T>C (p.Asn1099=) c.2478T>C (p.Asn826=) n.4029T>C | ClinVar |
13 | g.51937569A>T | CA388021954 | ATP7B | c.*1460T>A (n.*1460T>A) c.*2554T>A (n.*2554T>A) c.3189T>A (p.Asn1063Lys) c.3810T>A (p.Asn1270Lys) c.3477T>A (p.Asn1159Lys) c.3558T>A (p.Asn1186Lys) n.1051T>A c.3576T>A (p.Asn1192Lys) n.3949T>A n.676T>A c.2745T>A (p.Asn915Lys) c.2520T>A (p.Asn840Lys) c.3615T>A (p.Asn1205Lys) c.1588T>A c.*911T>A (n.*911T>A) n.4554T>A n.3155T>A c.3666T>A (p.Asn1222Lys) c.3714T>A (p.Asn1238Lys) c.3774T>A (p.Asn1258Lys) c.3324T>A (p.Asn1108Lys) c.1626T>A (p.Asn542Lys) c.1443T>A (p.Asn481Lys) c.3675T>A (p.Asn1225Lys) c.3627T>A (p.Asn1209Lys) c.3396T>A (p.Asn1132Lys) c.3297T>A (p.Asn1099Lys) c.2478T>A (p.Asn826Lys) n.4029T>A | |
13 | g.51937569_51937570del | CA912974792 | ATP7B | c.*1459_*1460del (n.*1459_*1460del) c.*2553_*2554del (n.*2553_*2554del) c.3188_3189del (p.Asn1063ArgfsTer?) c.3809_3810del (p.Asn1270ArgfsTer?) c.3476_3477del (p.Asn1159ArgfsTer?) c.3557_3558del (p.Asn1186ArgfsTer?) n.1050_1051del c.3575_3576del (p.Asn1192ArgfsTer?) n.3948_3949del n.675_676del c.2744_2745del (p.Asn915ArgfsTer?) c.2519_2520del (p.Asn840ArgfsTer?) c.3614_3615del (p.Asn1205ArgfsTer?) c.1587_1588del c.*910_*911del (n.*910_*911del) n.4553_4554del n.3154_3155del c.3665_3666del (p.Asn1222ArgfsTer?) c.3713_3714del (p.Asn1238ArgfsTer?) c.3773_3774del (p.Asn1258ArgfsTer?) c.3323_3324del (p.Asn1108ArgfsTer?) c.1625_1626del (p.Asn542ArgfsTer?) c.1442_1443del (p.Asn481ArgfsTer?) c.3674_3675del (p.Asn1225ArgfsTer?) c.3626_3627del (p.Asn1209ArgfsTer?) c.3395_3396del (p.Asn1132ArgfsTer?) c.3296_3297del (p.Asn1099ArgfsTer?) c.2477_2478del (p.Asn826ArgfsTer?) n.4028_4029del | |
13 | g.51937569_51937570delinsAT | CA2091554005 | ATP7B | c.*1459_*1460delinsAT (n.*1459_*1460delinsAT) c.*2553_*2554delinsAT (n.*2553_*2554delinsAT) c.3188_3189delinsAT (p.Asn1063=) c.3809_3810delinsAT (p.Asn1270=) c.3476_3477delinsAT (p.Asn1159=) c.3557_3558delinsAT (p.Asn1186=) n.1050_1051delinsAT c.3575_3576delinsAT (p.Asn1192=) n.3948_3949delinsAT n.675_676delinsAT c.2744_2745delinsAT (p.Asn915=) c.2519_2520delinsAT (p.Asn840=) c.3614_3615delinsAT (p.Asn1205=) c.1587_1588delinsAT c.*910_*911delinsAT (n.*910_*911delinsAT) n.4553_4554delinsAT n.3154_3155delinsAT c.3665_3666delinsAT (p.Asn1222=) c.3713_3714delinsAT (p.Asn1238=) c.3773_3774delinsAT (p.Asn1258=) c.3323_3324delinsAT (p.Asn1108=) c.1625_1626delinsAT (p.Asn542=) c.1442_1443delinsAT (p.Asn481=) c.3674_3675delinsAT (p.Asn1225=) c.3626_3627delinsAT (p.Asn1209=) c.3395_3396delinsAT (p.Asn1132=) c.3296_3297delinsAT (p.Asn1099=) c.2477_2478delinsAT (p.Asn826=) n.4028_4029delinsAT | |
13 | g.51937570T>A | CA6988565 | ATP7B | c.*1459A>T (n.*1459A>T) c.*2553A>T (n.*2553A>T) c.3188A>T (p.Asn1063Ile) c.3809A>T (p.Asn1270Ile) c.3476A>T (p.Asn1159Ile) c.3557A>T (p.Asn1186Ile) n.1050A>T c.3575A>T (p.Asn1192Ile) n.3948A>T n.675A>T c.2744A>T (p.Asn915Ile) c.2519A>T (p.Asn840Ile) c.3614A>T (p.Asn1205Ile) c.1587A>T c.*910A>T (n.*910A>T) n.4553A>T n.3154A>T c.3665A>T (p.Asn1222Ile) c.3713A>T (p.Asn1238Ile) c.3773A>T (p.Asn1258Ile) c.3323A>T (p.Asn1108Ile) c.1625A>T (p.Asn542Ile) c.1442A>T (p.Asn481Ile) c.3674A>T (p.Asn1225Ile) c.3626A>T (p.Asn1209Ile) c.3395A>T (p.Asn1132Ile) c.3296A>T (p.Asn1099Ile) c.2477A>T (p.Asn826Ile) n.4028A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937570T>C | CA252896 | ATP7B | c.*1459A>G (n.*1459A>G) c.*2553A>G (n.*2553A>G) c.3188A>G (p.Asn1063Ser) c.3809A>G (p.Asn1270Ser) c.3476A>G (p.Asn1159Ser) c.3557A>G (p.Asn1186Ser) n.1050A>G c.3575A>G (p.Asn1192Ser) n.3948A>G n.675A>G c.2744A>G (p.Asn915Ser) c.2519A>G (p.Asn840Ser) c.3614A>G (p.Asn1205Ser) c.1587A>G c.*910A>G (n.*910A>G) n.4553A>G n.3154A>G c.3665A>G (p.Asn1222Ser) c.3713A>G (p.Asn1238Ser) c.3773A>G (p.Asn1258Ser) c.3323A>G (p.Asn1108Ser) c.1625A>G (p.Asn542Ser) c.1442A>G (p.Asn481Ser) c.3674A>G (p.Asn1225Ser) c.3626A>G (p.Asn1209Ser) c.3395A>G (p.Asn1132Ser) c.3296A>G (p.Asn1099Ser) c.2477A>G (p.Asn826Ser) n.4028A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937570T>G | CA388021960 | ATP7B | c.*1459A>C (n.*1459A>C) c.*2553A>C (n.*2553A>C) c.3188A>C (p.Asn1063Thr) c.3809A>C (p.Asn1270Thr) c.3476A>C (p.Asn1159Thr) c.3557A>C (p.Asn1186Thr) n.1050A>C c.3575A>C (p.Asn1192Thr) n.3948A>C n.675A>C c.2744A>C (p.Asn915Thr) c.2519A>C (p.Asn840Thr) c.3614A>C (p.Asn1205Thr) c.1587A>C c.*910A>C (n.*910A>C) n.4553A>C n.3154A>C c.3665A>C (p.Asn1222Thr) c.3713A>C (p.Asn1238Thr) c.3773A>C (p.Asn1258Thr) c.3323A>C (p.Asn1108Thr) c.1625A>C (p.Asn542Thr) c.1442A>C (p.Asn481Thr) c.3674A>C (p.Asn1225Thr) c.3626A>C (p.Asn1209Thr) c.3395A>C (p.Asn1132Thr) c.3296A>C (p.Asn1099Thr) c.2477A>C (p.Asn826Thr) n.4028A>C | |
13 | g.51937570T= | CA2091554010 | ATP7B | c.*1459A= (n.*1459A=) c.*2553A= (n.*2553A=) c.3188A= (p.Asn1063=) c.3809A= (p.Asn1270=) c.3476A= (p.Asn1159=) c.3557A= (p.Asn1186=) n.1050A= c.3575A= (p.Asn1192=) n.3948A= n.675A= c.2744A= (p.Asn915=) c.2519A= (p.Asn840=) c.3614A= (p.Asn1205=) c.1587A= c.*910A= (n.*910A=) n.4553A= n.3154A= c.3665A= (p.Asn1222=) c.3713A= (p.Asn1238=) c.3773A= (p.Asn1258=) c.3323A= (p.Asn1108=) c.1625A= (p.Asn542=) c.1442A= (p.Asn481=) c.3674A= (p.Asn1225=) c.3626A= (p.Asn1209=) c.3395A= (p.Asn1132=) c.3296A= (p.Asn1099=) c.2477A= (p.Asn826=) n.4028A= | |
13 | g.51937571del | CA658823696 | ATP7B | c.*1459del (n.*1459del) c.*2553del (n.*2553del) c.3188del (p.Asn1063MetfsTer?) c.3809del (p.Asn1270MetfsTer?) c.3476del (p.Asn1159MetfsTer?) c.3557del (p.Asn1186MetfsTer?) n.1050del c.3575del (p.Asn1192MetfsTer?) n.3948del n.675del c.2744del (p.Asn915MetfsTer?) c.2519del (p.Asn840MetfsTer?) c.3614del (p.Asn1205MetfsTer?) c.1587del c.*910del (n.*910del) n.4553del n.3154del c.3665del (p.Asn1222MetfsTer?) c.3713del (p.Asn1238MetfsTer?) c.3773del (p.Asn1258MetfsTer?) c.3323del (p.Asn1108MetfsTer?) c.1625del (p.Asn542MetfsTer?) c.1442del (p.Asn481MetfsTer?) c.3674del (p.Asn1225MetfsTer?) c.3626del (p.Asn1209MetfsTer?) c.3395del (p.Asn1132MetfsTer?) c.3296del (p.Asn1099MetfsTer?) c.2477del (p.Asn826MetfsTer?) n.4028del | ClinVar dbSNP |
13 | g.51937571T>A | CA388021967 | ATP7B | c.*1458A>T (n.*1458A>T) c.*2552A>T (n.*2552A>T) c.3187A>T (p.Asn1063Tyr) c.3808A>T (p.Asn1270Tyr) c.3475A>T (p.Asn1159Tyr) c.3556A>T (p.Asn1186Tyr) n.1049A>T c.3574A>T (p.Asn1192Tyr) n.3947A>T n.674A>T c.2743A>T (p.Asn915Tyr) c.2518A>T (p.Asn840Tyr) c.3613A>T (p.Asn1205Tyr) c.1586A>T c.*909A>T (n.*909A>T) n.4552A>T n.3153A>T c.3664A>T (p.Asn1222Tyr) c.3712A>T (p.Asn1238Tyr) c.3772A>T (p.Asn1258Tyr) c.3322A>T (p.Asn1108Tyr) c.1624A>T (p.Asn542Tyr) c.1441A>T (p.Asn481Tyr) c.3673A>T (p.Asn1225Tyr) c.3625A>T (p.Asn1209Tyr) c.3394A>T (p.Asn1132Tyr) c.3295A>T (p.Asn1099Tyr) c.2476A>T (p.Asn826Tyr) n.4027A>T | gnomAD v4 |
13 | g.51937571T>C | CA250073678 | ATP7B | c.*1458A>G (n.*1458A>G) c.*2552A>G (n.*2552A>G) c.3187A>G (p.Asn1063Asp) c.3808A>G (p.Asn1270Asp) c.3475A>G (p.Asn1159Asp) c.3556A>G (p.Asn1186Asp) n.1049A>G c.3574A>G (p.Asn1192Asp) n.3947A>G n.674A>G c.2743A>G (p.Asn915Asp) c.2518A>G (p.Asn840Asp) c.3613A>G (p.Asn1205Asp) c.1586A>G c.*909A>G (n.*909A>G) n.4552A>G n.3153A>G c.3664A>G (p.Asn1222Asp) c.3712A>G (p.Asn1238Asp) c.3772A>G (p.Asn1258Asp) c.3322A>G (p.Asn1108Asp) c.1624A>G (p.Asn542Asp) c.1441A>G (p.Asn481Asp) c.3673A>G (p.Asn1225Asp) c.3625A>G (p.Asn1209Asp) c.3394A>G (p.Asn1132Asp) c.3295A>G (p.Asn1099Asp) c.2476A>G (p.Asn826Asp) n.4027A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937571T>G | CA388021963 | ATP7B | c.*1458A>C (n.*1458A>C) c.*2552A>C (n.*2552A>C) c.3187A>C (p.Asn1063His) c.3808A>C (p.Asn1270His) c.3475A>C (p.Asn1159His) c.3556A>C (p.Asn1186His) n.1049A>C c.3574A>C (p.Asn1192His) n.3947A>C n.674A>C c.2743A>C (p.Asn915His) c.2518A>C (p.Asn840His) c.3613A>C (p.Asn1205His) c.1586A>C c.*909A>C (n.*909A>C) n.4552A>C n.3153A>C c.3664A>C (p.Asn1222His) c.3712A>C (p.Asn1238His) c.3772A>C (p.Asn1258His) c.3322A>C (p.Asn1108His) c.1624A>C (p.Asn542His) c.1441A>C (p.Asn481His) c.3673A>C (p.Asn1225His) c.3625A>C (p.Asn1209His) c.3394A>C (p.Asn1132His) c.3295A>C (p.Asn1099His) c.2476A>C (p.Asn826His) n.4027A>C | |
13 | g.51937571T= | CA2091554016 | ATP7B | c.*1458A= (n.*1458A=) c.*2552A= (n.*2552A=) c.3187A= (p.Asn1063=) c.3808A= (p.Asn1270=) c.3475A= (p.Asn1159=) c.3556A= (p.Asn1186=) n.1049A= c.3574A= (p.Asn1192=) n.3947A= n.674A= c.2743A= (p.Asn915=) c.2518A= (p.Asn840=) c.3613A= (p.Asn1205=) c.1586A= c.*909A= (n.*909A=) n.4552A= n.3153A= c.3664A= (p.Asn1222=) c.3712A= (p.Asn1238=) c.3772A= (p.Asn1258=) c.3322A= (p.Asn1108=) c.1624A= (p.Asn542=) c.1441A= (p.Asn481=) c.3673A= (p.Asn1225=) c.3625A= (p.Asn1209=) c.3394A= (p.Asn1132=) c.3295A= (p.Asn1099=) c.2476A= (p.Asn826=) n.4027A= | |
13 | g.51937572G>A | CA484024333 | ATP7B | c.*1457C>T (n.*1457C>T) c.*2551C>T (n.*2551C>T) c.3186C>T (p.Val1062=) c.3807C>T (p.Val1269=) c.3474C>T (p.Val1158=) c.3555C>T (p.Val1185=) n.1048C>T c.3573C>T (p.Val1191=) n.3946C>T n.673C>T c.2742C>T (p.Val914=) c.2517C>T (p.Val839=) c.3612C>T (p.Val1204=) c.1585C>T c.*908C>T (n.*908C>T) n.4551C>T n.3152C>T c.3663C>T (p.Val1221=) c.3711C>T (p.Val1237=) c.3771C>T (p.Val1257=) c.3321C>T (p.Val1107=) c.1623C>T (p.Val541=) c.1440C>T (p.Val480=) c.3672C>T (p.Val1224=) c.3624C>T (p.Val1208=) c.3393C>T (p.Val1131=) c.3294C>T (p.Val1098=) c.2475C>T (p.Val825=) n.4026C>T | |
13 | g.51937572G>C | CA484024335 | ATP7B | c.*1457C>G (n.*1457C>G) c.*2551C>G (n.*2551C>G) c.3186C>G (p.Val1062=) c.3807C>G (p.Val1269=) c.3474C>G (p.Val1158=) c.3555C>G (p.Val1185=) n.1048C>G c.3573C>G (p.Val1191=) n.3946C>G n.673C>G c.2742C>G (p.Val914=) c.2517C>G (p.Val839=) c.3612C>G (p.Val1204=) c.1585C>G c.*908C>G (n.*908C>G) n.4551C>G n.3152C>G c.3663C>G (p.Val1221=) c.3711C>G (p.Val1237=) c.3771C>G (p.Val1257=) c.3321C>G (p.Val1107=) c.1623C>G (p.Val541=) c.1440C>G (p.Val480=) c.3672C>G (p.Val1224=) c.3624C>G (p.Val1208=) c.3393C>G (p.Val1131=) c.3294C>G (p.Val1098=) c.2475C>G (p.Val825=) n.4026C>G | dbSNP |
13 | g.51937572G= | CA2091554019 | ATP7B | c.*1457C= (n.*1457C=) c.*2551C= (n.*2551C=) c.3186C= (p.Val1062=) c.3807C= (p.Val1269=) c.3474C= (p.Val1158=) c.3555C= (p.Val1185=) n.1048C= c.3573C= (p.Val1191=) n.3946C= n.673C= c.2742C= (p.Val914=) c.2517C= (p.Val839=) c.3612C= (p.Val1204=) c.1585C= c.*908C= (n.*908C=) n.4551C= n.3152C= c.3663C= (p.Val1221=) c.3711C= (p.Val1237=) c.3771C= (p.Val1257=) c.3321C= (p.Val1107=) c.1623C= (p.Val541=) c.1440C= (p.Val480=) c.3672C= (p.Val1224=) c.3624C= (p.Val1208=) c.3393C= (p.Val1131=) c.3294C= (p.Val1098=) c.2475C= (p.Val825=) n.4026C= | |
13 | g.51937572G>T | CA484024334 | ATP7B | c.*1457C>A (n.*1457C>A) c.*2551C>A (n.*2551C>A) c.3186C>A (p.Val1062=) c.3807C>A (p.Val1269=) c.3474C>A (p.Val1158=) c.3555C>A (p.Val1185=) n.1048C>A c.3573C>A (p.Val1191=) n.3946C>A n.673C>A c.2742C>A (p.Val914=) c.2517C>A (p.Val839=) c.3612C>A (p.Val1204=) c.1585C>A c.*908C>A (n.*908C>A) n.4551C>A n.3152C>A c.3663C>A (p.Val1221=) c.3711C>A (p.Val1237=) c.3771C>A (p.Val1257=) c.3321C>A (p.Val1107=) c.1623C>A (p.Val541=) c.1440C>A (p.Val480=) c.3672C>A (p.Val1224=) c.3624C>A (p.Val1208=) c.3393C>A (p.Val1131=) c.3294C>A (p.Val1098=) c.2475C>A (p.Val825=) n.4026C>A | |
13 | g.51937573A>C | CA388021971 | ATP7B | c.*1456T>G (n.*1456T>G) c.*2550T>G (n.*2550T>G) c.3185T>G (p.Val1062Gly) c.3806T>G (p.Val1269Gly) c.3473T>G (p.Val1158Gly) c.3554T>G (p.Val1185Gly) n.1047T>G c.3572T>G (p.Val1191Gly) n.3945T>G n.672T>G c.2741T>G (p.Val914Gly) c.2516T>G (p.Val839Gly) c.3611T>G (p.Val1204Gly) c.1584T>G c.*907T>G (n.*907T>G) n.4550T>G n.3151T>G c.3662T>G (p.Val1221Gly) c.3710T>G (p.Val1237Gly) c.3770T>G (p.Val1257Gly) c.3320T>G (p.Val1107Gly) c.1622T>G (p.Val541Gly) c.1439T>G (p.Val480Gly) c.3671T>G (p.Val1224Gly) c.3623T>G (p.Val1208Gly) c.3392T>G (p.Val1131Gly) c.3293T>G (p.Val1098Gly) c.2474T>G (p.Val825Gly) n.4025T>G | |
13 | g.51937573A>G | CA388021972 | ATP7B | c.*1456T>C (n.*1456T>C) c.*2550T>C (n.*2550T>C) c.3185T>C (p.Val1062Ala) c.3806T>C (p.Val1269Ala) c.3473T>C (p.Val1158Ala) c.3554T>C (p.Val1185Ala) n.1047T>C c.3572T>C (p.Val1191Ala) n.3945T>C n.672T>C c.2741T>C (p.Val914Ala) c.2516T>C (p.Val839Ala) c.3611T>C (p.Val1204Ala) c.1584T>C c.*907T>C (n.*907T>C) n.4550T>C n.3151T>C c.3662T>C (p.Val1221Ala) c.3710T>C (p.Val1237Ala) c.3770T>C (p.Val1257Ala) c.3320T>C (p.Val1107Ala) c.1622T>C (p.Val541Ala) c.1439T>C (p.Val480Ala) c.3671T>C (p.Val1224Ala) c.3623T>C (p.Val1208Ala) c.3392T>C (p.Val1131Ala) c.3293T>C (p.Val1098Ala) c.2474T>C (p.Val825Ala) n.4025T>C | |
13 | g.51937573A>T | CA388021974 | ATP7B | c.*1456T>A (n.*1456T>A) c.*2550T>A (n.*2550T>A) c.3185T>A (p.Val1062Asp) c.3806T>A (p.Val1269Asp) c.3473T>A (p.Val1158Asp) c.3554T>A (p.Val1185Asp) n.1047T>A c.3572T>A (p.Val1191Asp) n.3945T>A n.672T>A c.2741T>A (p.Val914Asp) c.2516T>A (p.Val839Asp) c.3611T>A (p.Val1204Asp) c.1584T>A c.*907T>A (n.*907T>A) n.4550T>A n.3151T>A c.3662T>A (p.Val1221Asp) c.3710T>A (p.Val1237Asp) c.3770T>A (p.Val1257Asp) c.3320T>A (p.Val1107Asp) c.1622T>A (p.Val541Asp) c.1439T>A (p.Val480Asp) c.3671T>A (p.Val1224Asp) c.3623T>A (p.Val1208Asp) c.3392T>A (p.Val1131Asp) c.3293T>A (p.Val1098Asp) c.2474T>A (p.Val825Asp) n.4025T>A | |
13 | g.51937574C>A | CA388021976 | ATP7B | c.*1455G>T (n.*1455G>T) c.*2549G>T (n.*2549G>T) c.3184G>T (p.Val1062Phe) c.3805G>T (p.Val1269Phe) c.3472G>T (p.Val1158Phe) c.3553G>T (p.Val1185Phe) n.1046G>T c.3571G>T (p.Val1191Phe) n.3944G>T n.671G>T c.2740G>T (p.Val914Phe) c.2515G>T (p.Val839Phe) c.3610G>T (p.Val1204Phe) c.1583G>T c.*906G>T (n.*906G>T) n.4549G>T n.3150G>T c.3661G>T (p.Val1221Phe) c.3709G>T (p.Val1237Phe) c.3769G>T (p.Val1257Phe) c.3319G>T (p.Val1107Phe) c.1621G>T (p.Val541Phe) c.1438G>T (p.Val480Phe) c.3670G>T (p.Val1224Phe) c.3622G>T (p.Val1208Phe) c.3391G>T (p.Val1131Phe) c.3292G>T (p.Val1098Phe) c.2473G>T (p.Val825Phe) n.4024G>T | |
13 | g.51937574C= | CA2091554022 | ATP7B | c.*1455G= (n.*1455G=) c.*2549G= (n.*2549G=) c.3184G= (p.Val1062=) c.3805G= (p.Val1269=) c.3472G= (p.Val1158=) c.3553G= (p.Val1185=) n.1046G= c.3571G= (p.Val1191=) n.3944G= n.671G= c.2740G= (p.Val914=) c.2515G= (p.Val839=) c.3610G= (p.Val1204=) c.1583G= c.*906G= (n.*906G=) n.4549G= n.3150G= c.3661G= (p.Val1221=) c.3709G= (p.Val1237=) c.3769G= (p.Val1257=) c.3319G= (p.Val1107=) c.1621G= (p.Val541=) c.1438G= (p.Val480=) c.3670G= (p.Val1224=) c.3622G= (p.Val1208=) c.3391G= (p.Val1131=) c.3292G= (p.Val1098=) c.2473G= (p.Val825=) n.4024G= | |
13 | g.51937574C>G | CA250073682 | ATP7B | c.*1455G>C (n.*1455G>C) c.*2549G>C (n.*2549G>C) c.3184G>C (p.Val1062Leu) c.3805G>C (p.Val1269Leu) c.3472G>C (p.Val1158Leu) c.3553G>C (p.Val1185Leu) n.1046G>C c.3571G>C (p.Val1191Leu) n.3944G>C n.671G>C c.2740G>C (p.Val914Leu) c.2515G>C (p.Val839Leu) c.3610G>C (p.Val1204Leu) c.1583G>C c.*906G>C (n.*906G>C) n.4549G>C n.3150G>C c.3661G>C (p.Val1221Leu) c.3709G>C (p.Val1237Leu) c.3769G>C (p.Val1257Leu) c.3319G>C (p.Val1107Leu) c.1621G>C (p.Val541Leu) c.1438G>C (p.Val480Leu) c.3670G>C (p.Val1224Leu) c.3622G>C (p.Val1208Leu) c.3391G>C (p.Val1131Leu) c.3292G>C (p.Val1098Leu) c.2473G>C (p.Val825Leu) n.4024G>C | dbSNP |
13 | g.51937574C>T | CA388021984 | ATP7B | c.*1455G>A (n.*1455G>A) c.*2549G>A (n.*2549G>A) c.3184G>A (p.Val1062Ile) c.3805G>A (p.Val1269Ile) c.3472G>A (p.Val1158Ile) c.3553G>A (p.Val1185Ile) n.1046G>A c.3571G>A (p.Val1191Ile) n.3944G>A n.671G>A c.2740G>A (p.Val914Ile) c.2515G>A (p.Val839Ile) c.3610G>A (p.Val1204Ile) c.1583G>A c.*906G>A (n.*906G>A) n.4549G>A n.3150G>A c.3661G>A (p.Val1221Ile) c.3709G>A (p.Val1237Ile) c.3769G>A (p.Val1257Ile) c.3319G>A (p.Val1107Ile) c.1621G>A (p.Val541Ile) c.1438G>A (p.Val480Ile) c.3670G>A (p.Val1224Ile) c.3622G>A (p.Val1208Ile) c.3391G>A (p.Val1131Ile) c.3292G>A (p.Val1098Ile) c.2473G>A (p.Val825Ile) n.4024G>A | |
13 | g.51937577dup | CA2573053840 | ATP7B | c.*1455dup (n.*1455dup) c.*2549dup (n.*2549dup) c.3184dup (p.Val1062GlyfsTer3) c.3805dup (p.Val1269GlyfsTer3) c.3472dup (p.Val1158GlyfsTer3) c.3553dup (p.Val1185GlyfsTer3) n.1046dup c.3571dup (p.Val1191GlyfsTer3) n.3944dup n.671dup c.2740dup (p.Val914GlyfsTer3) c.2515dup (p.Val839GlyfsTer3) c.3610dup (p.Val1204GlyfsTer3) c.1583dup c.*906dup (n.*906dup) n.4549dup n.3150dup c.3661dup (p.Val1221GlyfsTer3) c.3709dup (p.Val1237GlyfsTer3) c.3769dup (p.Val1257GlyfsTer3) c.3319dup (p.Val1107GlyfsTer3) c.1621dup (p.Val541GlyfsTer3) c.1438dup (p.Val480GlyfsTer3) c.3670dup (p.Val1224GlyfsTer3) c.3622dup (p.Val1208GlyfsTer3) c.3391dup (p.Val1131GlyfsTer3) c.3292dup (p.Val1098GlyfsTer3) c.2473dup (p.Val825GlyfsTer3) n.4024dup | ClinVar dbSNP |
13 | g.51937575C>A | CA484024338 | ATP7B | c.*1454G>T (n.*1454G>T) c.*2548G>T (n.*2548G>T) c.3183G>T (p.Gly1061=) c.3804G>T (p.Gly1268=) c.3471G>T (p.Gly1157=) c.3552G>T (p.Gly1184=) n.1045G>T c.3570G>T (p.Gly1190=) n.3943G>T n.670G>T c.2739G>T (p.Gly913=) c.2514G>T (p.Gly838=) c.3609G>T (p.Gly1203=) c.1582G>T c.*905G>T (n.*905G>T) n.4548G>T n.3149G>T c.3660G>T (p.Gly1220=) c.3708G>T (p.Gly1236=) c.3768G>T (p.Gly1256=) c.3318G>T (p.Gly1106=) c.1620G>T (p.Gly540=) c.1437G>T (p.Gly479=) c.3669G>T (p.Gly1223=) c.3621G>T (p.Gly1207=) c.3390G>T (p.Gly1130=) c.3291G>T (p.Gly1097=) c.2472G>T (p.Gly824=) n.4023G>T | |
13 | g.51937575C>G | CA484024337 | ATP7B | c.*1454G>C (n.*1454G>C) c.*2548G>C (n.*2548G>C) c.3183G>C (p.Gly1061=) c.3804G>C (p.Gly1268=) c.3471G>C (p.Gly1157=) c.3552G>C (p.Gly1184=) n.1045G>C c.3570G>C (p.Gly1190=) n.3943G>C n.670G>C c.2739G>C (p.Gly913=) c.2514G>C (p.Gly838=) c.3609G>C (p.Gly1203=) c.1582G>C c.*905G>C (n.*905G>C) n.4548G>C n.3149G>C c.3660G>C (p.Gly1220=) c.3708G>C (p.Gly1236=) c.3768G>C (p.Gly1256=) c.3318G>C (p.Gly1106=) c.1620G>C (p.Gly540=) c.1437G>C (p.Gly479=) c.3669G>C (p.Gly1223=) c.3621G>C (p.Gly1207=) c.3390G>C (p.Gly1130=) c.3291G>C (p.Gly1097=) c.2472G>C (p.Gly824=) n.4023G>C | gnomAD v4 |
13 | g.51937575C>T | CA484024336 | ATP7B | c.*1454G>A (n.*1454G>A) c.*2548G>A (n.*2548G>A) c.3183G>A (p.Gly1061=) c.3804G>A (p.Gly1268=) c.3471G>A (p.Gly1157=) c.3552G>A (p.Gly1184=) n.1045G>A c.3570G>A (p.Gly1190=) n.3943G>A n.670G>A c.2739G>A (p.Gly913=) c.2514G>A (p.Gly838=) c.3609G>A (p.Gly1203=) c.1582G>A c.*905G>A (n.*905G>A) n.4548G>A n.3149G>A c.3660G>A (p.Gly1220=) c.3708G>A (p.Gly1236=) c.3768G>A (p.Gly1256=) c.3318G>A (p.Gly1106=) c.1620G>A (p.Gly540=) c.1437G>A (p.Gly479=) c.3669G>A (p.Gly1223=) c.3621G>A (p.Gly1207=) c.3390G>A (p.Gly1130=) c.3291G>A (p.Gly1097=) c.2472G>A (p.Gly824=) n.4023G>A | |
13 | g.51937576C>A | CA388021987 | ATP7B | c.*1453G>T (n.*1453G>T) c.*2547G>T (n.*2547G>T) c.3182G>T (p.Gly1061Val) c.3803G>T (p.Gly1268Val) c.3470G>T (p.Gly1157Val) c.3551G>T (p.Gly1184Val) n.1044G>T c.3569G>T (p.Gly1190Val) n.3942G>T n.669G>T c.2738G>T (p.Gly913Val) c.2513G>T (p.Gly838Val) c.3608G>T (p.Gly1203Val) c.1581G>T c.*904G>T (n.*904G>T) n.4547G>T n.3148G>T c.3659G>T (p.Gly1220Val) c.3707G>T (p.Gly1236Val) c.3767G>T (p.Gly1256Val) c.3317G>T (p.Gly1106Val) c.1619G>T (p.Gly540Val) c.1436G>T (p.Gly479Val) c.3668G>T (p.Gly1223Val) c.3620G>T (p.Gly1207Val) c.3389G>T (p.Gly1130Val) c.3290G>T (p.Gly1097Val) c.2471G>T (p.Gly824Val) n.4022G>T | |
13 | g.51937576C>G | CA388021989 | ATP7B | c.*1453G>C (n.*1453G>C) c.*2547G>C (n.*2547G>C) c.3182G>C (p.Gly1061Ala) c.3803G>C (p.Gly1268Ala) c.3470G>C (p.Gly1157Ala) c.3551G>C (p.Gly1184Ala) n.1044G>C c.3569G>C (p.Gly1190Ala) n.3942G>C n.669G>C c.2738G>C (p.Gly913Ala) c.2513G>C (p.Gly838Ala) c.3608G>C (p.Gly1203Ala) c.1581G>C c.*904G>C (n.*904G>C) n.4547G>C n.3148G>C c.3659G>C (p.Gly1220Ala) c.3707G>C (p.Gly1236Ala) c.3767G>C (p.Gly1256Ala) c.3317G>C (p.Gly1106Ala) c.1619G>C (p.Gly540Ala) c.1436G>C (p.Gly479Ala) c.3668G>C (p.Gly1223Ala) c.3620G>C (p.Gly1207Ala) c.3389G>C (p.Gly1130Ala) c.3290G>C (p.Gly1097Ala) c.2471G>C (p.Gly824Ala) n.4022G>C | |
13 | g.51937576C>T | CA388021990 | ATP7B | c.*1453G>A (n.*1453G>A) c.*2547G>A (n.*2547G>A) c.3182G>A (p.Gly1061Glu) c.3803G>A (p.Gly1268Glu) c.3470G>A (p.Gly1157Glu) c.3551G>A (p.Gly1184Glu) n.1044G>A c.3569G>A (p.Gly1190Glu) n.3942G>A n.669G>A c.2738G>A (p.Gly913Glu) c.2513G>A (p.Gly838Glu) c.3608G>A (p.Gly1203Glu) c.1581G>A c.*904G>A (n.*904G>A) n.4547G>A n.3148G>A c.3659G>A (p.Gly1220Glu) c.3707G>A (p.Gly1236Glu) c.3767G>A (p.Gly1256Glu) c.3317G>A (p.Gly1106Glu) c.1619G>A (p.Gly540Glu) c.1436G>A (p.Gly479Glu) c.3668G>A (p.Gly1223Glu) c.3620G>A (p.Gly1207Glu) c.3389G>A (p.Gly1130Glu) c.3290G>A (p.Gly1097Glu) c.2471G>A (p.Gly824Glu) n.4022G>A | |
13 | g.51937580_51937589del | CA2695218758 | ATP7B | c.*1444_*1453del (n.*1444_*1453del) c.*2538_*2547del (n.*2538_*2547del) c.3173_3182del (p.Val1058GlyfsTer?) c.3794_3803del (p.Val1265GlyfsTer?) c.3461_3470del (p.Val1154GlyfsTer?) c.3542_3551del (p.Val1181GlyfsTer?) n.1035_1044del c.3560_3569del (p.Val1187GlyfsTer?) n.3933_3942del n.660_669del c.2729_2738del (p.Val910GlyfsTer?) c.2504_2513del (p.Val835GlyfsTer?) c.3599_3608del (p.Val1200GlyfsTer?) c.1572_1581del c.*895_*904del (n.*895_*904del) n.4538_4547del n.3139_3148del c.3650_3659del (p.Val1217GlyfsTer?) c.3698_3707del (p.Val1233GlyfsTer?) c.3758_3767del (p.Val1253GlyfsTer?) c.3308_3317del (p.Val1103GlyfsTer?) c.1610_1619del (p.Val537GlyfsTer?) c.1427_1436del (p.Val476GlyfsTer?) c.3659_3668del (p.Val1220GlyfsTer?) c.3611_3620del (p.Val1204GlyfsTer?) c.3380_3389del (p.Val1127GlyfsTer?) c.3281_3290del (p.Val1094GlyfsTer?) c.2462_2471del (p.Val821GlyfsTer?) n.4013_4022del | |
13 | g.51937577C>A | CA388021992 | ATP7B | c.*1452G>T (n.*1452G>T) c.*2546G>T (n.*2546G>T) c.3181G>T (p.Gly1061Trp) c.3802G>T (p.Gly1268Trp) c.3469G>T (p.Gly1157Trp) c.3550G>T (p.Gly1184Trp) n.1043G>T c.3568G>T (p.Gly1190Trp) n.3941G>T n.668G>T c.2737G>T (p.Gly913Trp) c.2512G>T (p.Gly838Trp) c.3607G>T (p.Gly1203Trp) c.1580G>T c.*903G>T (n.*903G>T) n.4546G>T n.3147G>T c.3658G>T (p.Gly1220Trp) c.3706G>T (p.Gly1236Trp) c.3766G>T (p.Gly1256Trp) c.3316G>T (p.Gly1106Trp) c.1618G>T (p.Gly540Trp) c.1435G>T (p.Gly479Trp) c.3667G>T (p.Gly1223Trp) c.3619G>T (p.Gly1207Trp) c.3388G>T (p.Gly1130Trp) c.3289G>T (p.Gly1097Trp) c.2470G>T (p.Gly824Trp) n.4021G>T | |
13 | g.51937577C= | CA2091554030 | ATP7B | c.*1452G= (n.*1452G=) c.*2546G= (n.*2546G=) c.3181G= (p.Gly1061=) c.3802G= (p.Gly1268=) c.3469G= (p.Gly1157=) c.3550G= (p.Gly1184=) n.1043G= c.3568G= (p.Gly1190=) n.3941G= n.668G= c.2737G= (p.Gly913=) c.2512G= (p.Gly838=) c.3607G= (p.Gly1203=) c.1580G= c.*903G= (n.*903G=) n.4546G= n.3147G= c.3658G= (p.Gly1220=) c.3706G= (p.Gly1236=) c.3766G= (p.Gly1256=) c.3316G= (p.Gly1106=) c.1618G= (p.Gly540=) c.1435G= (p.Gly479=) c.3667G= (p.Gly1223=) c.3619G= (p.Gly1207=) c.3388G= (p.Gly1130=) c.3289G= (p.Gly1097=) c.2470G= (p.Gly824=) n.4021G= | |
13 | g.51937577C>G | CA388021993 | ATP7B | c.*1452G>C (n.*1452G>C) c.*2546G>C (n.*2546G>C) c.3181G>C (p.Gly1061Arg) c.3802G>C (p.Gly1268Arg) c.3469G>C (p.Gly1157Arg) c.3550G>C (p.Gly1184Arg) n.1043G>C c.3568G>C (p.Gly1190Arg) n.3941G>C n.668G>C c.2737G>C (p.Gly913Arg) c.2512G>C (p.Gly838Arg) c.3607G>C (p.Gly1203Arg) c.1580G>C c.*903G>C (n.*903G>C) n.4546G>C n.3147G>C c.3658G>C (p.Gly1220Arg) c.3706G>C (p.Gly1236Arg) c.3766G>C (p.Gly1256Arg) c.3316G>C (p.Gly1106Arg) c.1618G>C (p.Gly540Arg) c.1435G>C (p.Gly479Arg) c.3667G>C (p.Gly1223Arg) c.3619G>C (p.Gly1207Arg) c.3388G>C (p.Gly1130Arg) c.3289G>C (p.Gly1097Arg) c.2470G>C (p.Gly824Arg) n.4021G>C | |
13 | g.51937577C>T | CA388021995 | ATP7B | c.*1452G>A (n.*1452G>A) c.*2546G>A (n.*2546G>A) c.3181G>A (p.Gly1061Arg) c.3802G>A (p.Gly1268Arg) c.3469G>A (p.Gly1157Arg) c.3550G>A (p.Gly1184Arg) n.1043G>A c.3568G>A (p.Gly1190Arg) n.3941G>A n.668G>A c.2737G>A (p.Gly913Arg) c.2512G>A (p.Gly838Arg) c.3607G>A (p.Gly1203Arg) c.1580G>A c.*903G>A (n.*903G>A) n.4546G>A n.3147G>A c.3658G>A (p.Gly1220Arg) c.3706G>A (p.Gly1236Arg) c.3766G>A (p.Gly1256Arg) c.3316G>A (p.Gly1106Arg) c.1618G>A (p.Gly540Arg) c.1435G>A (p.Gly479Arg) c.3667G>A (p.Gly1223Arg) c.3619G>A (p.Gly1207Arg) c.3388G>A (p.Gly1130Arg) c.3289G>A (p.Gly1097Arg) c.2470G>A (p.Gly824Arg) n.4021G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937578A>C | CA388022001 | ATP7B | c.*1451T>G (n.*1451T>G) c.*2545T>G (n.*2545T>G) c.3180T>G (p.Asp1060Glu) c.3801T>G (p.Asp1267Glu) c.3468T>G (p.Asp1156Glu) c.3549T>G (p.Asp1183Glu) n.1042T>G c.3567T>G (p.Asp1189Glu) n.3940T>G n.667T>G c.2736T>G (p.Asp912Glu) c.2511T>G (p.Asp837Glu) c.3606T>G (p.Asp1202Glu) c.1579T>G c.*902T>G (n.*902T>G) n.4545T>G n.3146T>G c.3657T>G (p.Asp1219Glu) c.3705T>G (p.Asp1235Glu) c.3765T>G (p.Asp1255Glu) c.3315T>G (p.Asp1105Glu) c.1617T>G (p.Asp539Glu) c.1434T>G (p.Asp478Glu) c.3666T>G (p.Asp1222Glu) c.3618T>G (p.Asp1206Glu) c.3387T>G (p.Asp1129Glu) c.3288T>G (p.Asp1096Glu) c.2469T>G (p.Asp823Glu) n.4020T>G | |
13 | g.51937578A>G | CA484024339 | ATP7B | c.*1451T>C (n.*1451T>C) c.*2545T>C (n.*2545T>C) c.3180T>C (p.Asp1060=) c.3801T>C (p.Asp1267=) c.3468T>C (p.Asp1156=) c.3549T>C (p.Asp1183=) n.1042T>C c.3567T>C (p.Asp1189=) n.3940T>C n.667T>C c.2736T>C (p.Asp912=) c.2511T>C (p.Asp837=) c.3606T>C (p.Asp1202=) c.1579T>C c.*902T>C (n.*902T>C) n.4545T>C n.3146T>C c.3657T>C (p.Asp1219=) c.3705T>C (p.Asp1235=) c.3765T>C (p.Asp1255=) c.3315T>C (p.Asp1105=) c.1617T>C (p.Asp539=) c.1434T>C (p.Asp478=) c.3666T>C (p.Asp1222=) c.3618T>C (p.Asp1206=) c.3387T>C (p.Asp1129=) c.3288T>C (p.Asp1096=) c.2469T>C (p.Asp823=) n.4020T>C | |
13 | g.51937578A>T | CA388022002 | ATP7B | c.*1451T>A (n.*1451T>A) c.*2545T>A (n.*2545T>A) c.3180T>A (p.Asp1060Glu) c.3801T>A (p.Asp1267Glu) c.3468T>A (p.Asp1156Glu) c.3549T>A (p.Asp1183Glu) n.1042T>A c.3567T>A (p.Asp1189Glu) n.3940T>A n.667T>A c.2736T>A (p.Asp912Glu) c.2511T>A (p.Asp837Glu) c.3606T>A (p.Asp1202Glu) c.1579T>A c.*902T>A (n.*902T>A) n.4545T>A n.3146T>A c.3657T>A (p.Asp1219Glu) c.3705T>A (p.Asp1235Glu) c.3765T>A (p.Asp1255Glu) c.3315T>A (p.Asp1105Glu) c.1617T>A (p.Asp539Glu) c.1434T>A (p.Asp478Glu) c.3666T>A (p.Asp1222Glu) c.3618T>A (p.Asp1206Glu) c.3387T>A (p.Asp1129Glu) c.3288T>A (p.Asp1096Glu) c.2469T>A (p.Asp823Glu) n.4020T>A | |
13 | g.51937578_51937579delinsAT | CA2091554035 | ATP7B | c.*1450_*1451delinsAT (n.*1450_*1451delinsAT) c.*2544_*2545delinsAT (n.*2544_*2545delinsAT) c.3179_3180delinsAT (p.Asp1060=) c.3800_3801delinsAT (p.Asp1267=) c.3467_3468delinsAT (p.Asp1156=) c.3548_3549delinsAT (p.Asp1183=) n.1041_1042delinsAT c.3566_3567delinsAT (p.Asp1189=) n.3939_3940delinsAT n.666_667delinsAT c.2735_2736delinsAT (p.Asp912=) c.2510_2511delinsAT (p.Asp837=) c.3605_3606delinsAT (p.Asp1202=) c.1578_1579delinsAT c.*901_*902delinsAT (n.*901_*902delinsAT) n.4544_4545delinsAT n.3145_3146delinsAT c.3656_3657delinsAT (p.Asp1219=) c.3704_3705delinsAT (p.Asp1235=) c.3764_3765delinsAT (p.Asp1255=) c.3314_3315delinsAT (p.Asp1105=) c.1616_1617delinsAT (p.Asp539=) c.1433_1434delinsAT (p.Asp478=) c.3665_3666delinsAT (p.Asp1222=) c.3617_3618delinsAT (p.Asp1206=) c.3386_3387delinsAT (p.Asp1129=) c.3287_3288delinsAT (p.Asp1096=) c.2468_2469delinsAT (p.Asp823=) n.4019_4020delinsAT | |
13 | g.51937579del | CA16041664 | ATP7B | c.*1450del (n.*1450del) c.*2544del (n.*2544del) c.3179del (p.Asp1060ValfsTer?) c.3800del (p.Asp1267ValfsTer?) c.3467del (p.Asp1156ValfsTer?) c.3548del (p.Asp1183ValfsTer?) n.1041del c.3566del (p.Asp1189ValfsTer?) n.3939del n.666del c.2735del (p.Asp912ValfsTer?) c.2510del (p.Asp837ValfsTer?) c.3605del (p.Asp1202ValfsTer?) c.1578del c.*901del (n.*901del) n.4544del n.3145del c.3656del (p.Asp1219ValfsTer?) c.3704del (p.Asp1235ValfsTer?) c.3764del (p.Asp1255ValfsTer?) c.3314del (p.Asp1105ValfsTer?) c.1616del (p.Asp539ValfsTer?) c.1433del (p.Asp478ValfsTer?) c.3665del (p.Asp1222ValfsTer?) c.3617del (p.Asp1206ValfsTer?) c.3386del (p.Asp1129ValfsTer?) c.3287del (p.Asp1096ValfsTer?) c.2468del (p.Asp823ValfsTer?) n.4019del | ClinVar dbSNP |
13 | g.51937579T>A | CA388022006 | ATP7B | c.*1450A>T (n.*1450A>T) c.*2544A>T (n.*2544A>T) c.3179A>T (p.Asp1060Val) c.3800A>T (p.Asp1267Val) c.3467A>T (p.Asp1156Val) c.3548A>T (p.Asp1183Val) n.1041A>T c.3566A>T (p.Asp1189Val) n.3939A>T n.666A>T c.2735A>T (p.Asp912Val) c.2510A>T (p.Asp837Val) c.3605A>T (p.Asp1202Val) c.1578A>T c.*901A>T (n.*901A>T) n.4544A>T n.3145A>T c.3656A>T (p.Asp1219Val) c.3704A>T (p.Asp1235Val) c.3764A>T (p.Asp1255Val) c.3314A>T (p.Asp1105Val) c.1616A>T (p.Asp539Val) c.1433A>T (p.Asp478Val) c.3665A>T (p.Asp1222Val) c.3617A>T (p.Asp1206Val) c.3386A>T (p.Asp1129Val) c.3287A>T (p.Asp1096Val) c.2468A>T (p.Asp823Val) n.4019A>T | dbSNP gnomAD v4 |
13 | g.51937579T>C | CA388022009 | ATP7B | c.*1450A>G (n.*1450A>G) c.*2544A>G (n.*2544A>G) c.3179A>G (p.Asp1060Gly) c.3800A>G (p.Asp1267Gly) c.3467A>G (p.Asp1156Gly) c.3548A>G (p.Asp1183Gly) n.1041A>G c.3566A>G (p.Asp1189Gly) n.3939A>G n.666A>G c.2735A>G (p.Asp912Gly) c.2510A>G (p.Asp837Gly) c.3605A>G (p.Asp1202Gly) c.1578A>G c.*901A>G (n.*901A>G) n.4544A>G n.3145A>G c.3656A>G (p.Asp1219Gly) c.3704A>G (p.Asp1235Gly) c.3764A>G (p.Asp1255Gly) c.3314A>G (p.Asp1105Gly) c.1616A>G (p.Asp539Gly) c.1433A>G (p.Asp478Gly) c.3665A>G (p.Asp1222Gly) c.3617A>G (p.Asp1206Gly) c.3386A>G (p.Asp1129Gly) c.3287A>G (p.Asp1096Gly) c.2468A>G (p.Asp823Gly) n.4019A>G | |
13 | g.51937579T>G | CA388022010 | ATP7B | c.*1450A>C (n.*1450A>C) c.*2544A>C (n.*2544A>C) c.3179A>C (p.Asp1060Ala) c.3800A>C (p.Asp1267Ala) c.3467A>C (p.Asp1156Ala) c.3548A>C (p.Asp1183Ala) n.1041A>C c.3566A>C (p.Asp1189Ala) n.3939A>C n.666A>C c.2735A>C (p.Asp912Ala) c.2510A>C (p.Asp837Ala) c.3605A>C (p.Asp1202Ala) c.1578A>C c.*901A>C (n.*901A>C) n.4544A>C n.3145A>C c.3656A>C (p.Asp1219Ala) c.3704A>C (p.Asp1235Ala) c.3764A>C (p.Asp1255Ala) c.3314A>C (p.Asp1105Ala) c.1616A>C (p.Asp539Ala) c.1433A>C (p.Asp478Ala) c.3665A>C (p.Asp1222Ala) c.3617A>C (p.Asp1206Ala) c.3386A>C (p.Asp1129Ala) c.3287A>C (p.Asp1096Ala) c.2468A>C (p.Asp823Ala) n.4019A>C | ClinVar dbSNP gnomAD v4 |
13 | g.51937579T= | CA2091554051 | ATP7B | c.*1450A= (n.*1450A=) c.*2544A= (n.*2544A=) c.3179A= (p.Asp1060=) c.3800A= (p.Asp1267=) c.3467A= (p.Asp1156=) c.3548A= (p.Asp1183=) n.1041A= c.3566A= (p.Asp1189=) n.3939A= n.666A= c.2735A= (p.Asp912=) c.2510A= (p.Asp837=) c.3605A= (p.Asp1202=) c.1578A= c.*901A= (n.*901A=) n.4544A= n.3145A= c.3656A= (p.Asp1219=) c.3704A= (p.Asp1235=) c.3764A= (p.Asp1255=) c.3314A= (p.Asp1105=) c.1616A= (p.Asp539=) c.1433A= (p.Asp478=) c.3665A= (p.Asp1222=) c.3617A= (p.Asp1206=) c.3386A= (p.Asp1129=) c.3287A= (p.Asp1096=) c.2468A= (p.Asp823=) n.4019A= | |
13 | g.51937580C>A | CA388022012 | ATP7B | c.*1449G>T (n.*1449G>T) c.*2543G>T (n.*2543G>T) c.3178G>T (p.Asp1060Tyr) c.3799G>T (p.Asp1267Tyr) c.3466G>T (p.Asp1156Tyr) c.3547G>T (p.Asp1183Tyr) n.1040G>T c.3565G>T (p.Asp1189Tyr) n.3938G>T n.665G>T c.2734G>T (p.Asp912Tyr) c.2509G>T (p.Asp837Tyr) c.3604G>T (p.Asp1202Tyr) c.1577G>T c.*900G>T (n.*900G>T) n.4543G>T n.3144G>T c.3655G>T (p.Asp1219Tyr) c.3703G>T (p.Asp1235Tyr) c.3763G>T (p.Asp1255Tyr) c.3313G>T (p.Asp1105Tyr) c.1615G>T (p.Asp539Tyr) c.1432G>T (p.Asp478Tyr) c.3664G>T (p.Asp1222Tyr) c.3616G>T (p.Asp1206Tyr) c.3385G>T (p.Asp1129Tyr) c.3286G>T (p.Asp1096Tyr) c.2467G>T (p.Asp823Tyr) n.4018G>T | |
13 | g.51937580C>G | CA388022014 | ATP7B | c.*1449G>C (n.*1449G>C) c.*2543G>C (n.*2543G>C) c.3178G>C (p.Asp1060His) c.3799G>C (p.Asp1267His) c.3466G>C (p.Asp1156His) c.3547G>C (p.Asp1183His) n.1040G>C c.3565G>C (p.Asp1189His) n.3938G>C n.665G>C c.2734G>C (p.Asp912His) c.2509G>C (p.Asp837His) c.3604G>C (p.Asp1202His) c.1577G>C c.*900G>C (n.*900G>C) n.4543G>C n.3144G>C c.3655G>C (p.Asp1219His) c.3703G>C (p.Asp1235His) c.3763G>C (p.Asp1255His) c.3313G>C (p.Asp1105His) c.1615G>C (p.Asp539His) c.1432G>C (p.Asp478His) c.3664G>C (p.Asp1222His) c.3616G>C (p.Asp1206His) c.3385G>C (p.Asp1129His) c.3286G>C (p.Asp1096His) c.2467G>C (p.Asp823His) n.4018G>C | |
13 | g.51937580C>T | CA388022015 | ATP7B | c.*1449G>A (n.*1449G>A) c.*2543G>A (n.*2543G>A) c.3178G>A (p.Asp1060Asn) c.3799G>A (p.Asp1267Asn) c.3466G>A (p.Asp1156Asn) c.3547G>A (p.Asp1183Asn) n.1040G>A c.3565G>A (p.Asp1189Asn) n.3938G>A n.665G>A c.2734G>A (p.Asp912Asn) c.2509G>A (p.Asp837Asn) c.3604G>A (p.Asp1202Asn) c.1577G>A c.*900G>A (n.*900G>A) n.4543G>A n.3144G>A c.3655G>A (p.Asp1219Asn) c.3703G>A (p.Asp1235Asn) c.3763G>A (p.Asp1255Asn) c.3313G>A (p.Asp1105Asn) c.1615G>A (p.Asp539Asn) c.1432G>A (p.Asp478Asn) c.3664G>A (p.Asp1222Asn) c.3616G>A (p.Asp1206Asn) c.3385G>A (p.Asp1129Asn) c.3286G>A (p.Asp1096Asn) c.2467G>A (p.Asp823Asn) n.4018G>A | gnomAD v4 COSMIC |
13 | g.51937581C>A | CA484024340 | ATP7B | c.*1448G>T (n.*1448G>T) c.*2542G>T (n.*2542G>T) c.3177G>T (p.Gly1059=) c.3798G>T (p.Gly1266=) c.3465G>T (p.Gly1155=) c.3546G>T (p.Gly1182=) n.1039G>T c.3564G>T (p.Gly1188=) n.3937G>T n.664G>T c.2733G>T (p.Gly911=) c.2508G>T (p.Gly836=) c.3603G>T (p.Gly1201=) c.1576G>T c.*899G>T (n.*899G>T) n.4542G>T n.3143G>T c.3654G>T (p.Gly1218=) c.3702G>T (p.Gly1234=) c.3762G>T (p.Gly1254=) c.3312G>T (p.Gly1104=) c.1614G>T (p.Gly538=) c.1431G>T (p.Gly477=) c.3663G>T (p.Gly1221=) c.3615G>T (p.Gly1205=) c.3384G>T (p.Gly1128=) c.3285G>T (p.Gly1095=) c.2466G>T (p.Gly822=) n.4017G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937581C= | CA2091554057 | ATP7B | c.*1448G= (n.*1448G=) c.*2542G= (n.*2542G=) c.3177G= (p.Gly1059=) c.3798G= (p.Gly1266=) c.3465G= (p.Gly1155=) c.3546G= (p.Gly1182=) n.1039G= c.3564G= (p.Gly1188=) n.3937G= n.664G= c.2733G= (p.Gly911=) c.2508G= (p.Gly836=) c.3603G= (p.Gly1201=) c.1576G= c.*899G= (n.*899G=) n.4542G= n.3143G= c.3654G= (p.Gly1218=) c.3702G= (p.Gly1234=) c.3762G= (p.Gly1254=) c.3312G= (p.Gly1104=) c.1614G= (p.Gly538=) c.1431G= (p.Gly477=) c.3663G= (p.Gly1221=) c.3615G= (p.Gly1205=) c.3384G= (p.Gly1128=) c.3285G= (p.Gly1095=) c.2466G= (p.Gly822=) n.4017G= | |
13 | g.51937581C>G | CA484024341 | ATP7B | c.*1448G>C (n.*1448G>C) c.*2542G>C (n.*2542G>C) c.3177G>C (p.Gly1059=) c.3798G>C (p.Gly1266=) c.3465G>C (p.Gly1155=) c.3546G>C (p.Gly1182=) n.1039G>C c.3564G>C (p.Gly1188=) n.3937G>C n.664G>C c.2733G>C (p.Gly911=) c.2508G>C (p.Gly836=) c.3603G>C (p.Gly1201=) c.1576G>C c.*899G>C (n.*899G>C) n.4542G>C n.3143G>C c.3654G>C (p.Gly1218=) c.3702G>C (p.Gly1234=) c.3762G>C (p.Gly1254=) c.3312G>C (p.Gly1104=) c.1614G>C (p.Gly538=) c.1431G>C (p.Gly477=) c.3663G>C (p.Gly1221=) c.3615G>C (p.Gly1205=) c.3384G>C (p.Gly1128=) c.3285G>C (p.Gly1095=) c.2466G>C (p.Gly822=) n.4017G>C | |
13 | g.51937581C>T | CA250073695 | ATP7B | c.*1448G>A (n.*1448G>A) c.*2542G>A (n.*2542G>A) c.3177G>A (p.Gly1059=) c.3798G>A (p.Gly1266=) c.3465G>A (p.Gly1155=) c.3546G>A (p.Gly1182=) n.1039G>A c.3564G>A (p.Gly1188=) n.3937G>A n.664G>A c.2733G>A (p.Gly911=) c.2508G>A (p.Gly836=) c.3603G>A (p.Gly1201=) c.1576G>A c.*899G>A (n.*899G>A) n.4542G>A n.3143G>A c.3654G>A (p.Gly1218=) c.3702G>A (p.Gly1234=) c.3762G>A (p.Gly1254=) c.3312G>A (p.Gly1104=) c.1614G>A (p.Gly538=) c.1431G>A (p.Gly477=) c.3663G>A (p.Gly1221=) c.3615G>A (p.Gly1205=) c.3384G>A (p.Gly1128=) c.3285G>A (p.Gly1095=) c.2466G>A (p.Gly822=) n.4017G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937582C>A | CA388022019 | ATP7B | c.*1447G>T (n.*1447G>T) c.*2541G>T (n.*2541G>T) c.3176G>T (p.Gly1059Val) c.3797G>T (p.Gly1266Val) c.3464G>T (p.Gly1155Val) c.3545G>T (p.Gly1182Val) n.1038G>T c.3563G>T (p.Gly1188Val) n.3936G>T n.663G>T c.2732G>T (p.Gly911Val) c.2507G>T (p.Gly836Val) c.3602G>T (p.Gly1201Val) c.1575G>T c.*898G>T (n.*898G>T) n.4541G>T n.3142G>T c.3653G>T (p.Gly1218Val) c.3701G>T (p.Gly1234Val) c.3761G>T (p.Gly1254Val) c.3311G>T (p.Gly1104Val) c.1613G>T (p.Gly538Val) c.1430G>T (p.Gly477Val) c.3662G>T (p.Gly1221Val) c.3614G>T (p.Gly1205Val) c.3383G>T (p.Gly1128Val) c.3284G>T (p.Gly1095Val) c.2465G>T (p.Gly822Val) n.4016G>T | |
13 | g.51937582C= | CA2091554066 | ATP7B | c.*1447G= (n.*1447G=) c.*2541G= (n.*2541G=) c.3176G= (p.Gly1059=) c.3797G= (p.Gly1266=) c.3464G= (p.Gly1155=) c.3545G= (p.Gly1182=) n.1038G= c.3563G= (p.Gly1188=) n.3936G= n.663G= c.2732G= (p.Gly911=) c.2507G= (p.Gly836=) c.3602G= (p.Gly1201=) c.1575G= c.*898G= (n.*898G=) n.4541G= n.3142G= c.3653G= (p.Gly1218=) c.3701G= (p.Gly1234=) c.3761G= (p.Gly1254=) c.3311G= (p.Gly1104=) c.1613G= (p.Gly538=) c.1430G= (p.Gly477=) c.3662G= (p.Gly1221=) c.3614G= (p.Gly1205=) c.3383G= (p.Gly1128=) c.3284G= (p.Gly1095=) c.2465G= (p.Gly822=) n.4016G= | |
13 | g.51937582C>G | CA388022022 | ATP7B | c.*1447G>C (n.*1447G>C) c.*2541G>C (n.*2541G>C) c.3176G>C (p.Gly1059Ala) c.3797G>C (p.Gly1266Ala) c.3464G>C (p.Gly1155Ala) c.3545G>C (p.Gly1182Ala) n.1038G>C c.3563G>C (p.Gly1188Ala) n.3936G>C n.663G>C c.2732G>C (p.Gly911Ala) c.2507G>C (p.Gly836Ala) c.3602G>C (p.Gly1201Ala) c.1575G>C c.*898G>C (n.*898G>C) n.4541G>C n.3142G>C c.3653G>C (p.Gly1218Ala) c.3701G>C (p.Gly1234Ala) c.3761G>C (p.Gly1254Ala) c.3311G>C (p.Gly1104Ala) c.1613G>C (p.Gly538Ala) c.1430G>C (p.Gly477Ala) c.3662G>C (p.Gly1221Ala) c.3614G>C (p.Gly1205Ala) c.3383G>C (p.Gly1128Ala) c.3284G>C (p.Gly1095Ala) c.2465G>C (p.Gly822Ala) n.4016G>C | |
13 | g.51937582C>T | CA388022024 | ATP7B | c.*1447G>A (n.*1447G>A) c.*2541G>A (n.*2541G>A) c.3176G>A (p.Gly1059Glu) c.3797G>A (p.Gly1266Glu) c.3464G>A (p.Gly1155Glu) c.3545G>A (p.Gly1182Glu) n.1038G>A c.3563G>A (p.Gly1188Glu) n.3936G>A n.663G>A c.2732G>A (p.Gly911Glu) c.2507G>A (p.Gly836Glu) c.3602G>A (p.Gly1201Glu) c.1575G>A c.*898G>A (n.*898G>A) n.4541G>A n.3142G>A c.3653G>A (p.Gly1218Glu) c.3701G>A (p.Gly1234Glu) c.3761G>A (p.Gly1254Glu) c.3311G>A (p.Gly1104Glu) c.1613G>A (p.Gly538Glu) c.1430G>A (p.Gly477Glu) c.3662G>A (p.Gly1221Glu) c.3614G>A (p.Gly1205Glu) c.3383G>A (p.Gly1128Glu) c.3284G>A (p.Gly1095Glu) c.2465G>A (p.Gly822Glu) n.4016G>A | ClinVar dbSNP COSMIC |
13 | g.51937584_51937587dup | CA2695218759 | ATP7B | c.*1444_*1447dup (n.*1444_*1447dup) c.*2538_*2541dup (n.*2538_*2541dup) c.3173_3176dup (p.Asp1060GlyfsTer6) c.3794_3797dup (p.Asp1267GlyfsTer6) c.3461_3464dup (p.Asp1156GlyfsTer6) c.3542_3545dup (p.Asp1183GlyfsTer6) n.1035_1038dup c.3560_3563dup (p.Asp1189GlyfsTer6) n.3933_3936dup n.660_663dup c.2729_2732dup (p.Asp912GlyfsTer6) c.2504_2507dup (p.Asp837GlyfsTer6) c.3599_3602dup (p.Asp1202GlyfsTer6) c.1572_1575dup c.*895_*898dup (n.*895_*898dup) n.4538_4541dup n.3139_3142dup c.3650_3653dup (p.Asp1219GlyfsTer6) c.3698_3701dup (p.Asp1235GlyfsTer6) c.3758_3761dup (p.Asp1255GlyfsTer6) c.3308_3311dup (p.Asp1105GlyfsTer6) c.1610_1613dup (p.Asp539GlyfsTer6) c.1427_1430dup (p.Asp478GlyfsTer6) c.3659_3662dup (p.Asp1222GlyfsTer6) c.3611_3614dup (p.Asp1206GlyfsTer6) c.3380_3383dup (p.Asp1129GlyfsTer6) c.3281_3284dup (p.Asp1096GlyfsTer6) c.2462_2465dup (p.Asp823GlyfsTer6) n.4013_4016dup | |
13 | g.51937583C>A | CA388022026 | ATP7B | c.*1446G>T (n.*1446G>T) c.*2540G>T (n.*2540G>T) c.3175G>T (p.Gly1059Trp) c.3796G>T (p.Gly1266Trp) c.3463G>T (p.Gly1155Trp) c.3544G>T (p.Gly1182Trp) n.1037G>T c.3562G>T (p.Gly1188Trp) n.3935G>T n.662G>T c.2731G>T (p.Gly911Trp) c.2506G>T (p.Gly836Trp) c.3601G>T (p.Gly1201Trp) c.1574G>T c.*897G>T (n.*897G>T) n.4540G>T n.3141G>T c.3652G>T (p.Gly1218Trp) c.3700G>T (p.Gly1234Trp) c.3760G>T (p.Gly1254Trp) c.3310G>T (p.Gly1104Trp) c.1612G>T (p.Gly538Trp) c.1429G>T (p.Gly477Trp) c.3661G>T (p.Gly1221Trp) c.3613G>T (p.Gly1205Trp) c.3382G>T (p.Gly1128Trp) c.3283G>T (p.Gly1095Trp) c.2464G>T (p.Gly822Trp) n.4015G>T | dbSNP |
13 | g.51937583C= | CA2091554101 | ATP7B | c.*1446G= (n.*1446G=) c.*2540G= (n.*2540G=) c.3175G= (p.Gly1059=) c.3796G= (p.Gly1266=) c.3463G= (p.Gly1155=) c.3544G= (p.Gly1182=) n.1037G= c.3562G= (p.Gly1188=) n.3935G= n.662G= c.2731G= (p.Gly911=) c.2506G= (p.Gly836=) c.3601G= (p.Gly1201=) c.1574G= c.*897G= (n.*897G=) n.4540G= n.3141G= c.3652G= (p.Gly1218=) c.3700G= (p.Gly1234=) c.3760G= (p.Gly1254=) c.3310G= (p.Gly1104=) c.1612G= (p.Gly538=) c.1429G= (p.Gly477=) c.3661G= (p.Gly1221=) c.3613G= (p.Gly1205=) c.3382G= (p.Gly1128=) c.3283G= (p.Gly1095=) c.2464G= (p.Gly822=) n.4015G= | |
13 | g.51937583C>G | CA388022028 | ATP7B | c.*1446G>C (n.*1446G>C) c.*2540G>C (n.*2540G>C) c.3175G>C (p.Gly1059Arg) c.3796G>C (p.Gly1266Arg) c.3463G>C (p.Gly1155Arg) c.3544G>C (p.Gly1182Arg) n.1037G>C c.3562G>C (p.Gly1188Arg) n.3935G>C n.662G>C c.2731G>C (p.Gly911Arg) c.2506G>C (p.Gly836Arg) c.3601G>C (p.Gly1201Arg) c.1574G>C c.*897G>C (n.*897G>C) n.4540G>C n.3141G>C c.3652G>C (p.Gly1218Arg) c.3700G>C (p.Gly1234Arg) c.3760G>C (p.Gly1254Arg) c.3310G>C (p.Gly1104Arg) c.1612G>C (p.Gly538Arg) c.1429G>C (p.Gly477Arg) c.3661G>C (p.Gly1221Arg) c.3613G>C (p.Gly1205Arg) c.3382G>C (p.Gly1128Arg) c.3283G>C (p.Gly1095Arg) c.2464G>C (p.Gly822Arg) n.4015G>C | |
13 | g.51937583C>T | CA252890 | ATP7B | c.*1446G>A (n.*1446G>A) c.*2540G>A (n.*2540G>A) c.3175G>A (p.Gly1059Arg) c.3796G>A (p.Gly1266Arg) c.3463G>A (p.Gly1155Arg) c.3544G>A (p.Gly1182Arg) n.1037G>A c.3562G>A (p.Gly1188Arg) n.3935G>A n.662G>A c.2731G>A (p.Gly911Arg) c.2506G>A (p.Gly836Arg) c.3601G>A (p.Gly1201Arg) c.1574G>A c.*897G>A (n.*897G>A) n.4540G>A n.3141G>A c.3652G>A (p.Gly1218Arg) c.3700G>A (p.Gly1234Arg) c.3760G>A (p.Gly1254Arg) c.3310G>A (p.Gly1104Arg) c.1612G>A (p.Gly538Arg) c.1429G>A (p.Gly477Arg) c.3661G>A (p.Gly1221Arg) c.3613G>A (p.Gly1205Arg) c.3382G>A (p.Gly1128Arg) c.3283G>A (p.Gly1095Arg) c.2464G>A (p.Gly822Arg) n.4015G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937584C>A | CA484024342 | ATP7B | c.*1445G>T (n.*1445G>T) c.*2539G>T (n.*2539G>T) c.3174G>T (p.Val1058=) c.3795G>T (p.Val1265=) c.3462G>T (p.Val1154=) c.3543G>T (p.Val1181=) n.1036G>T c.3561G>T (p.Val1187=) n.3934G>T n.661G>T c.2730G>T (p.Val910=) c.2505G>T (p.Val835=) c.3600G>T (p.Val1200=) c.1573G>T c.*896G>T (n.*896G>T) n.4539G>T n.3140G>T c.3651G>T (p.Val1217=) c.3699G>T (p.Val1233=) c.3759G>T (p.Val1253=) c.3309G>T (p.Val1103=) c.1611G>T (p.Val537=) c.1428G>T (p.Val476=) c.3660G>T (p.Val1220=) c.3612G>T (p.Val1204=) c.3381G>T (p.Val1127=) c.3282G>T (p.Val1094=) c.2463G>T (p.Val821=) n.4014G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937584C= | CA2091554105 | ATP7B | c.*1445G= (n.*1445G=) c.*2539G= (n.*2539G=) c.3174G= (p.Val1058=) c.3795G= (p.Val1265=) c.3462G= (p.Val1154=) c.3543G= (p.Val1181=) n.1036G= c.3561G= (p.Val1187=) n.3934G= n.661G= c.2730G= (p.Val910=) c.2505G= (p.Val835=) c.3600G= (p.Val1200=) c.1573G= c.*896G= (n.*896G=) n.4539G= n.3140G= c.3651G= (p.Val1217=) c.3699G= (p.Val1233=) c.3759G= (p.Val1253=) c.3309G= (p.Val1103=) c.1611G= (p.Val537=) c.1428G= (p.Val476=) c.3660G= (p.Val1220=) c.3612G= (p.Val1204=) c.3381G= (p.Val1127=) c.3282G= (p.Val1094=) c.2463G= (p.Val821=) n.4014G= | |
13 | g.51937584C>G | CA484024343 | ATP7B | c.*1445G>C (n.*1445G>C) c.*2539G>C (n.*2539G>C) c.3174G>C (p.Val1058=) c.3795G>C (p.Val1265=) c.3462G>C (p.Val1154=) c.3543G>C (p.Val1181=) n.1036G>C c.3561G>C (p.Val1187=) n.3934G>C n.661G>C c.2730G>C (p.Val910=) c.2505G>C (p.Val835=) c.3600G>C (p.Val1200=) c.1573G>C c.*896G>C (n.*896G>C) n.4539G>C n.3140G>C c.3651G>C (p.Val1217=) c.3699G>C (p.Val1233=) c.3759G>C (p.Val1253=) c.3309G>C (p.Val1103=) c.1611G>C (p.Val537=) c.1428G>C (p.Val476=) c.3660G>C (p.Val1220=) c.3612G>C (p.Val1204=) c.3381G>C (p.Val1127=) c.3282G>C (p.Val1094=) c.2463G>C (p.Val821=) n.4014G>C | ClinVar |
13 | g.51937584C>T | CA484024344 | ATP7B | c.*1445G>A (n.*1445G>A) c.*2539G>A (n.*2539G>A) c.3174G>A (p.Val1058=) c.3795G>A (p.Val1265=) c.3462G>A (p.Val1154=) c.3543G>A (p.Val1181=) n.1036G>A c.3561G>A (p.Val1187=) n.3934G>A n.661G>A c.2730G>A (p.Val910=) c.2505G>A (p.Val835=) c.3600G>A (p.Val1200=) c.1573G>A c.*896G>A (n.*896G>A) n.4539G>A n.3140G>A c.3651G>A (p.Val1217=) c.3699G>A (p.Val1233=) c.3759G>A (p.Val1253=) c.3309G>A (p.Val1103=) c.1611G>A (p.Val537=) c.1428G>A (p.Val476=) c.3660G>A (p.Val1220=) c.3612G>A (p.Val1204=) c.3381G>A (p.Val1127=) c.3282G>A (p.Val1094=) c.2463G>A (p.Val821=) n.4014G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51937585A>C | CA388022033 | ATP7B | c.*1444T>G (n.*1444T>G) c.*2538T>G (n.*2538T>G) c.3173T>G (p.Val1058Gly) c.3794T>G (p.Val1265Gly) c.3461T>G (p.Val1154Gly) c.3542T>G (p.Val1181Gly) n.1035T>G c.3560T>G (p.Val1187Gly) n.3933T>G n.660T>G c.2729T>G (p.Val910Gly) c.2504T>G (p.Val835Gly) c.3599T>G (p.Val1200Gly) c.1572T>G c.*895T>G (n.*895T>G) n.4538T>G n.3139T>G c.3650T>G (p.Val1217Gly) c.3698T>G (p.Val1233Gly) c.3758T>G (p.Val1253Gly) c.3308T>G (p.Val1103Gly) c.1610T>G (p.Val537Gly) c.1427T>G (p.Val476Gly) c.3659T>G (p.Val1220Gly) c.3611T>G (p.Val1204Gly) c.3380T>G (p.Val1127Gly) c.3281T>G (p.Val1094Gly) c.2462T>G (p.Val821Gly) n.4013T>G | |
13 | g.51937585A>G | CA388022035 | ATP7B | c.*1444T>C (n.*1444T>C) c.*2538T>C (n.*2538T>C) c.3173T>C (p.Val1058Ala) c.3794T>C (p.Val1265Ala) c.3461T>C (p.Val1154Ala) c.3542T>C (p.Val1181Ala) n.1035T>C c.3560T>C (p.Val1187Ala) n.3933T>C n.660T>C c.2729T>C (p.Val910Ala) c.2504T>C (p.Val835Ala) c.3599T>C (p.Val1200Ala) c.1572T>C c.*895T>C (n.*895T>C) n.4538T>C n.3139T>C c.3650T>C (p.Val1217Ala) c.3698T>C (p.Val1233Ala) c.3758T>C (p.Val1253Ala) c.3308T>C (p.Val1103Ala) c.1610T>C (p.Val537Ala) c.1427T>C (p.Val476Ala) c.3659T>C (p.Val1220Ala) c.3611T>C (p.Val1204Ala) c.3380T>C (p.Val1127Ala) c.3281T>C (p.Val1094Ala) c.2462T>C (p.Val821Ala) n.4013T>C | |
13 | g.51937585A>T | CA388022042 | ATP7B | c.*1444T>A (n.*1444T>A) c.*2538T>A (n.*2538T>A) c.3173T>A (p.Val1058Glu) c.3794T>A (p.Val1265Glu) c.3461T>A (p.Val1154Glu) c.3542T>A (p.Val1181Glu) n.1035T>A c.3560T>A (p.Val1187Glu) n.3933T>A n.660T>A c.2729T>A (p.Val910Glu) c.2504T>A (p.Val835Glu) c.3599T>A (p.Val1200Glu) c.1572T>A c.*895T>A (n.*895T>A) n.4538T>A n.3139T>A c.3650T>A (p.Val1217Glu) c.3698T>A (p.Val1233Glu) c.3758T>A (p.Val1253Glu) c.3308T>A (p.Val1103Glu) c.1610T>A (p.Val537Glu) c.1427T>A (p.Val476Glu) c.3659T>A (p.Val1220Glu) c.3611T>A (p.Val1204Glu) c.3380T>A (p.Val1127Glu) c.3281T>A (p.Val1094Glu) c.2462T>A (p.Val821Glu) n.4013T>A | |
13 | g.51937586C>A | CA388022049 | ATP7B | c.*1443G>T (n.*1443G>T) c.*2537G>T (n.*2537G>T) c.3172G>T (p.Val1058Leu) c.3793G>T (p.Val1265Leu) c.3460G>T (p.Val1154Leu) c.3541G>T (p.Val1181Leu) n.1034G>T c.3559G>T (p.Val1187Leu) n.3932G>T n.659G>T c.2728G>T (p.Val910Leu) c.2503G>T (p.Val835Leu) c.3598G>T (p.Val1200Leu) c.1571G>T c.*894G>T (n.*894G>T) n.4537G>T n.3138G>T c.3649G>T (p.Val1217Leu) c.3697G>T (p.Val1233Leu) c.3757G>T (p.Val1253Leu) c.3307G>T (p.Val1103Leu) c.1609G>T (p.Val537Leu) c.1426G>T (p.Val476Leu) c.3658G>T (p.Val1220Leu) c.3610G>T (p.Val1204Leu) c.3379G>T (p.Val1127Leu) c.3280G>T (p.Val1094Leu) c.2461G>T (p.Val821Leu) n.4012G>T | dbSNP |
13 | g.51937586C= | CA2091554106 | ATP7B | c.*1443G= (n.*1443G=) c.*2537G= (n.*2537G=) c.3172G= (p.Val1058=) c.3793G= (p.Val1265=) c.3460G= (p.Val1154=) c.3541G= (p.Val1181=) n.1034G= c.3559G= (p.Val1187=) n.3932G= n.659G= c.2728G= (p.Val910=) c.2503G= (p.Val835=) c.3598G= (p.Val1200=) c.1571G= c.*894G= (n.*894G=) n.4537G= n.3138G= c.3649G= (p.Val1217=) c.3697G= (p.Val1233=) c.3757G= (p.Val1253=) c.3307G= (p.Val1103=) c.1609G= (p.Val537=) c.1426G= (p.Val476=) c.3658G= (p.Val1220=) c.3610G= (p.Val1204=) c.3379G= (p.Val1127=) c.3280G= (p.Val1094=) c.2461G= (p.Val821=) n.4012G= | |
13 | g.51937586C>G | CA388022044 | ATP7B | c.*1443G>C (n.*1443G>C) c.*2537G>C (n.*2537G>C) c.3172G>C (p.Val1058Leu) c.3793G>C (p.Val1265Leu) c.3460G>C (p.Val1154Leu) c.3541G>C (p.Val1181Leu) n.1034G>C c.3559G>C (p.Val1187Leu) n.3932G>C n.659G>C c.2728G>C (p.Val910Leu) c.2503G>C (p.Val835Leu) c.3598G>C (p.Val1200Leu) c.1571G>C c.*894G>C (n.*894G>C) n.4537G>C n.3138G>C c.3649G>C (p.Val1217Leu) c.3697G>C (p.Val1233Leu) c.3757G>C (p.Val1253Leu) c.3307G>C (p.Val1103Leu) c.1609G>C (p.Val537Leu) c.1426G>C (p.Val476Leu) c.3658G>C (p.Val1220Leu) c.3610G>C (p.Val1204Leu) c.3379G>C (p.Val1127Leu) c.3280G>C (p.Val1094Leu) c.2461G>C (p.Val821Leu) n.4012G>C | |
13 | g.51937586C>T | CA388022048 | ATP7B | c.*1443G>A (n.*1443G>A) c.*2537G>A (n.*2537G>A) c.3172G>A (p.Val1058Met) c.3793G>A (p.Val1265Met) c.3460G>A (p.Val1154Met) c.3541G>A (p.Val1181Met) n.1034G>A c.3559G>A (p.Val1187Met) n.3932G>A n.659G>A c.2728G>A (p.Val910Met) c.2503G>A (p.Val835Met) c.3598G>A (p.Val1200Met) c.1571G>A c.*894G>A (n.*894G>A) n.4537G>A n.3138G>A c.3649G>A (p.Val1217Met) c.3697G>A (p.Val1233Met) c.3757G>A (p.Val1253Met) c.3307G>A (p.Val1103Met) c.1609G>A (p.Val537Met) c.1426G>A (p.Val476Met) c.3658G>A (p.Val1220Met) c.3610G>A (p.Val1204Met) c.3379G>A (p.Val1127Met) c.3280G>A (p.Val1094Met) c.2461G>A (p.Val821Met) n.4012G>A | |
13 | g.51937587C>A | CA388022050 | ATP7B | c.*1442G>T (n.*1442G>T) c.*2536G>T (n.*2536G>T) c.3171G>T (p.Met1057Ile) c.3792G>T (p.Met1264Ile) c.3459G>T (p.Met1153Ile) c.3540G>T (p.Met1180Ile) n.1033G>T c.3558G>T (p.Met1186Ile) n.3931G>T n.658G>T c.2727G>T (p.Met909Ile) c.2502G>T (p.Met834Ile) c.3597G>T (p.Met1199Ile) c.1570G>T c.*893G>T (n.*893G>T) n.4536G>T n.3137G>T c.3648G>T (p.Met1216Ile) c.3696G>T (p.Met1232Ile) c.3756G>T (p.Met1252Ile) c.3306G>T (p.Met1102Ile) c.1608G>T (p.Met536Ile) c.1425G>T (p.Met475Ile) c.3657G>T (p.Met1219Ile) c.3609G>T (p.Met1203Ile) c.3378G>T (p.Met1126Ile) c.3279G>T (p.Met1093Ile) c.2460G>T (p.Met820Ile) n.4011G>T | |
13 | g.51937587C>G | CA388022053 | ATP7B | c.*1442G>C (n.*1442G>C) c.*2536G>C (n.*2536G>C) c.3171G>C (p.Met1057Ile) c.3792G>C (p.Met1264Ile) c.3459G>C (p.Met1153Ile) c.3540G>C (p.Met1180Ile) n.1033G>C c.3558G>C (p.Met1186Ile) n.3931G>C n.658G>C c.2727G>C (p.Met909Ile) c.2502G>C (p.Met834Ile) c.3597G>C (p.Met1199Ile) c.1570G>C c.*893G>C (n.*893G>C) n.4536G>C n.3137G>C c.3648G>C (p.Met1216Ile) c.3696G>C (p.Met1232Ile) c.3756G>C (p.Met1252Ile) c.3306G>C (p.Met1102Ile) c.1608G>C (p.Met536Ile) c.1425G>C (p.Met475Ile) c.3657G>C (p.Met1219Ile) c.3609G>C (p.Met1203Ile) c.3378G>C (p.Met1126Ile) c.3279G>C (p.Met1093Ile) c.2460G>C (p.Met820Ile) n.4011G>C | |
13 | g.51937587C>T | CA388022054 | ATP7B | c.*1442G>A (n.*1442G>A) c.*2536G>A (n.*2536G>A) c.3171G>A (p.Met1057Ile) c.3792G>A (p.Met1264Ile) c.3459G>A (p.Met1153Ile) c.3540G>A (p.Met1180Ile) n.1033G>A c.3558G>A (p.Met1186Ile) n.3931G>A n.658G>A c.2727G>A (p.Met909Ile) c.2502G>A (p.Met834Ile) c.3597G>A (p.Met1199Ile) c.1570G>A c.*893G>A (n.*893G>A) n.4536G>A n.3137G>A c.3648G>A (p.Met1216Ile) c.3696G>A (p.Met1232Ile) c.3756G>A (p.Met1252Ile) c.3306G>A (p.Met1102Ile) c.1608G>A (p.Met536Ile) c.1425G>A (p.Met475Ile) c.3657G>A (p.Met1219Ile) c.3609G>A (p.Met1203Ile) c.3378G>A (p.Met1126Ile) c.3279G>A (p.Met1093Ile) c.2460G>A (p.Met820Ile) n.4011G>A | |
13 | g.51937588A>C | CA388022056 | ATP7B | c.*1441T>G (n.*1441T>G) c.*2535T>G (n.*2535T>G) c.3170T>G (p.Met1057Arg) c.3791T>G (p.Met1264Arg) c.3458T>G (p.Met1153Arg) c.3539T>G (p.Met1180Arg) n.1032T>G c.3557T>G (p.Met1186Arg) n.3930T>G n.657T>G c.2726T>G (p.Met909Arg) c.2501T>G (p.Met834Arg) c.3596T>G (p.Met1199Arg) c.1569T>G c.*892T>G (n.*892T>G) n.4535T>G n.3136T>G c.3647T>G (p.Met1216Arg) c.3695T>G (p.Met1232Arg) c.3755T>G (p.Met1252Arg) c.3305T>G (p.Met1102Arg) c.1607T>G (p.Met536Arg) c.1424T>G (p.Met475Arg) c.3656T>G (p.Met1219Arg) c.3608T>G (p.Met1203Arg) c.3377T>G (p.Met1126Arg) c.3278T>G (p.Met1093Arg) c.2459T>G (p.Met820Arg) n.4010T>G | |
13 | g.51937588A>G | CA388022057 | ATP7B | c.*1441T>C (n.*1441T>C) c.*2535T>C (n.*2535T>C) c.3170T>C (p.Met1057Thr) c.3791T>C (p.Met1264Thr) c.3458T>C (p.Met1153Thr) c.3539T>C (p.Met1180Thr) n.1032T>C c.3557T>C (p.Met1186Thr) n.3930T>C n.657T>C c.2726T>C (p.Met909Thr) c.2501T>C (p.Met834Thr) c.3596T>C (p.Met1199Thr) c.1569T>C c.*892T>C (n.*892T>C) n.4535T>C n.3136T>C c.3647T>C (p.Met1216Thr) c.3695T>C (p.Met1232Thr) c.3755T>C (p.Met1252Thr) c.3305T>C (p.Met1102Thr) c.1607T>C (p.Met536Thr) c.1424T>C (p.Met475Thr) c.3656T>C (p.Met1219Thr) c.3608T>C (p.Met1203Thr) c.3377T>C (p.Met1126Thr) c.3278T>C (p.Met1093Thr) c.2459T>C (p.Met820Thr) n.4010T>C | |
13 | g.51937588A>T | CA388022059 | ATP7B | c.*1441T>A (n.*1441T>A) c.*2535T>A (n.*2535T>A) c.3170T>A (p.Met1057Lys) c.3791T>A (p.Met1264Lys) c.3458T>A (p.Met1153Lys) c.3539T>A (p.Met1180Lys) n.1032T>A c.3557T>A (p.Met1186Lys) n.3930T>A n.657T>A c.2726T>A (p.Met909Lys) c.2501T>A (p.Met834Lys) c.3596T>A (p.Met1199Lys) c.1569T>A c.*892T>A (n.*892T>A) n.4535T>A n.3136T>A c.3647T>A (p.Met1216Lys) c.3695T>A (p.Met1232Lys) c.3755T>A (p.Met1252Lys) c.3305T>A (p.Met1102Lys) c.1607T>A (p.Met536Lys) c.1424T>A (p.Met475Lys) c.3656T>A (p.Met1219Lys) c.3608T>A (p.Met1203Lys) c.3377T>A (p.Met1126Lys) c.3278T>A (p.Met1093Lys) c.2459T>A (p.Met820Lys) n.4010T>A | |
13 | g.51937588_51937597del | CA2580087712 | ATP7B | c.*1432_*1441del (n.*1432_*1441del) c.*2526_*2535del (n.*2526_*2535del) c.3161_3170del (p.Lys1054ArgfsTer?) c.3782_3791del (p.Lys1261ArgfsTer?) c.3449_3458del (p.Lys1150ArgfsTer?) c.3530_3539del (p.Lys1177ArgfsTer?) n.1023_1032del c.3548_3557del (p.Lys1183ArgfsTer?) n.3921_3930del n.648_657del c.2717_2726del (p.Lys906ArgfsTer?) c.2492_2501del (p.Lys831ArgfsTer?) c.3587_3596del (p.Lys1196ArgfsTer?) c.1560_1569del c.*883_*892del (n.*883_*892del) n.4526_4535del n.3127_3136del c.3638_3647del (p.Lys1213ArgfsTer?) c.3686_3695del (p.Lys1229ArgfsTer?) c.3746_3755del (p.Lys1249ArgfsTer?) c.3296_3305del (p.Lys1099ArgfsTer?) c.1598_1607del (p.Lys533ArgfsTer?) c.1415_1424del (p.Lys472ArgfsTer?) c.3647_3656del (p.Lys1216ArgfsTer?) c.3599_3608del (p.Lys1200ArgfsTer?) c.3368_3377del (p.Lys1123ArgfsTer?) c.3269_3278del (p.Lys1090ArgfsTer?) c.2450_2459del (p.Lys817ArgfsTer?) n.4001_4010del | ClinVar |
13 | g.51937589T>A | CA388022062 | ATP7B | c.*1440A>T (n.*1440A>T) c.*2534A>T (n.*2534A>T) c.3169A>T (p.Met1057Leu) c.3790A>T (p.Met1264Leu) c.3457A>T (p.Met1153Leu) c.3538A>T (p.Met1180Leu) n.1031A>T c.3556A>T (p.Met1186Leu) n.3929A>T n.656A>T c.2725A>T (p.Met909Leu) c.2500A>T (p.Met834Leu) c.3595A>T (p.Met1199Leu) c.1568A>T c.*891A>T (n.*891A>T) n.4534A>T n.3135A>T c.3646A>T (p.Met1216Leu) c.3694A>T (p.Met1232Leu) c.3754A>T (p.Met1252Leu) c.3304A>T (p.Met1102Leu) c.1606A>T (p.Met536Leu) c.1423A>T (p.Met475Leu) c.3655A>T (p.Met1219Leu) c.3607A>T (p.Met1203Leu) c.3376A>T (p.Met1126Leu) c.3277A>T (p.Met1093Leu) c.2458A>T (p.Met820Leu) n.4009A>T | dbSNP |
13 | g.51937589T>C | CA388022065 | ATP7B | c.*1440A>G (n.*1440A>G) c.*2534A>G (n.*2534A>G) c.3169A>G (p.Met1057Val) c.3790A>G (p.Met1264Val) c.3457A>G (p.Met1153Val) c.3538A>G (p.Met1180Val) n.1031A>G c.3556A>G (p.Met1186Val) n.3929A>G n.656A>G c.2725A>G (p.Met909Val) c.2500A>G (p.Met834Val) c.3595A>G (p.Met1199Val) c.1568A>G c.*891A>G (n.*891A>G) n.4534A>G n.3135A>G c.3646A>G (p.Met1216Val) c.3694A>G (p.Met1232Val) c.3754A>G (p.Met1252Val) c.3304A>G (p.Met1102Val) c.1606A>G (p.Met536Val) c.1423A>G (p.Met475Val) c.3655A>G (p.Met1219Val) c.3607A>G (p.Met1203Val) c.3376A>G (p.Met1126Val) c.3277A>G (p.Met1093Val) c.2458A>G (p.Met820Val) n.4009A>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937589T>G | CA388022067 | ATP7B | c.*1440A>C (n.*1440A>C) c.*2534A>C (n.*2534A>C) c.3169A>C (p.Met1057Leu) c.3790A>C (p.Met1264Leu) c.3457A>C (p.Met1153Leu) c.3538A>C (p.Met1180Leu) n.1031A>C c.3556A>C (p.Met1186Leu) n.3929A>C n.656A>C c.2725A>C (p.Met909Leu) c.2500A>C (p.Met834Leu) c.3595A>C (p.Met1199Leu) c.1568A>C c.*891A>C (n.*891A>C) n.4534A>C n.3135A>C c.3646A>C (p.Met1216Leu) c.3694A>C (p.Met1232Leu) c.3754A>C (p.Met1252Leu) c.3304A>C (p.Met1102Leu) c.1606A>C (p.Met536Leu) c.1423A>C (p.Met475Leu) c.3655A>C (p.Met1219Leu) c.3607A>C (p.Met1203Leu) c.3376A>C (p.Met1126Leu) c.3277A>C (p.Met1093Leu) c.2458A>C (p.Met820Leu) n.4009A>C | |
13 | g.51937589T= | CA2091554110 | ATP7B | c.*1440A= (n.*1440A=) c.*2534A= (n.*2534A=) c.3169A= (p.Met1057=) c.3790A= (p.Met1264=) c.3457A= (p.Met1153=) c.3538A= (p.Met1180=) n.1031A= c.3556A= (p.Met1186=) n.3929A= n.656A= c.2725A= (p.Met909=) c.2500A= (p.Met834=) c.3595A= (p.Met1199=) c.1568A= c.*891A= (n.*891A=) n.4534A= n.3135A= c.3646A= (p.Met1216=) c.3694A= (p.Met1232=) c.3754A= (p.Met1252=) c.3304A= (p.Met1102=) c.1606A= (p.Met536=) c.1423A= (p.Met475=) c.3655A= (p.Met1219=) c.3607A= (p.Met1203=) c.3376A= (p.Met1126=) c.3277A= (p.Met1093=) c.2458A= (p.Met820=) n.4009A= | |
13 | g.51937590G>A | CA250073700 | ATP7B | c.*1439C>T (n.*1439C>T) c.*2533C>T (n.*2533C>T) c.3168C>T (p.Ala1056=) c.3789C>T (p.Ala1263=) c.3456C>T (p.Ala1152=) c.3537C>T (p.Ala1179=) n.1030C>T c.3555C>T (p.Ala1185=) n.3928C>T n.655C>T c.2724C>T (p.Ala908=) c.2499C>T (p.Ala833=) c.3594C>T (p.Ala1198=) c.1567C>T c.*890C>T (n.*890C>T) n.4533C>T n.3134C>T c.3645C>T (p.Ala1215=) c.3693C>T (p.Ala1231=) c.3753C>T (p.Ala1251=) c.3303C>T (p.Ala1101=) c.1605C>T (p.Ala535=) c.1422C>T (p.Ala474=) c.3654C>T (p.Ala1218=) c.3606C>T (p.Ala1202=) c.3375C>T (p.Ala1125=) c.3276C>T (p.Ala1092=) c.2457C>T (p.Ala819=) n.4008C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937590G>C | CA484024345 | ATP7B | c.*1439C>G (n.*1439C>G) c.*2533C>G (n.*2533C>G) c.3168C>G (p.Ala1056=) c.3789C>G (p.Ala1263=) c.3456C>G (p.Ala1152=) c.3537C>G (p.Ala1179=) n.1030C>G c.3555C>G (p.Ala1185=) n.3928C>G n.655C>G c.2724C>G (p.Ala908=) c.2499C>G (p.Ala833=) c.3594C>G (p.Ala1198=) c.1567C>G c.*890C>G (n.*890C>G) n.4533C>G n.3134C>G c.3645C>G (p.Ala1215=) c.3693C>G (p.Ala1231=) c.3753C>G (p.Ala1251=) c.3303C>G (p.Ala1101=) c.1605C>G (p.Ala535=) c.1422C>G (p.Ala474=) c.3654C>G (p.Ala1218=) c.3606C>G (p.Ala1202=) c.3375C>G (p.Ala1125=) c.3276C>G (p.Ala1092=) c.2457C>G (p.Ala819=) n.4008C>G | |
13 | g.51937590G= | CA2091554113 | ATP7B | c.*1439C= (n.*1439C=) c.*2533C= (n.*2533C=) c.3168C= (p.Ala1056=) c.3789C= (p.Ala1263=) c.3456C= (p.Ala1152=) c.3537C= (p.Ala1179=) n.1030C= c.3555C= (p.Ala1185=) n.3928C= n.655C= c.2724C= (p.Ala908=) c.2499C= (p.Ala833=) c.3594C= (p.Ala1198=) c.1567C= c.*890C= (n.*890C=) n.4533C= n.3134C= c.3645C= (p.Ala1215=) c.3693C= (p.Ala1231=) c.3753C= (p.Ala1251=) c.3303C= (p.Ala1101=) c.1605C= (p.Ala535=) c.1422C= (p.Ala474=) c.3654C= (p.Ala1218=) c.3606C= (p.Ala1202=) c.3375C= (p.Ala1125=) c.3276C= (p.Ala1092=) c.2457C= (p.Ala819=) n.4008C= | |
13 | g.51937590G>T | CA484024346 | ATP7B | c.*1439C>A (n.*1439C>A) c.*2533C>A (n.*2533C>A) c.3168C>A (p.Ala1056=) c.3789C>A (p.Ala1263=) c.3456C>A (p.Ala1152=) c.3537C>A (p.Ala1179=) n.1030C>A c.3555C>A (p.Ala1185=) n.3928C>A n.655C>A c.2724C>A (p.Ala908=) c.2499C>A (p.Ala833=) c.3594C>A (p.Ala1198=) c.1567C>A c.*890C>A (n.*890C>A) n.4533C>A n.3134C>A c.3645C>A (p.Ala1215=) c.3693C>A (p.Ala1231=) c.3753C>A (p.Ala1251=) c.3303C>A (p.Ala1101=) c.1605C>A (p.Ala535=) c.1422C>A (p.Ala474=) c.3654C>A (p.Ala1218=) c.3606C>A (p.Ala1202=) c.3375C>A (p.Ala1125=) c.3276C>A (p.Ala1092=) c.2457C>A (p.Ala819=) n.4008C>A | |
13 | g.51937591G>A | CA388022069 | ATP7B | c.*1438C>T (n.*1438C>T) c.*2532C>T (n.*2532C>T) c.3167C>T (p.Ala1056Val) c.3788C>T (p.Ala1263Val) c.3455C>T (p.Ala1152Val) c.3536C>T (p.Ala1179Val) n.1029C>T c.3554C>T (p.Ala1185Val) n.3927C>T n.654C>T c.2723C>T (p.Ala908Val) c.2498C>T (p.Ala833Val) c.3593C>T (p.Ala1198Val) c.1566C>T c.*889C>T (n.*889C>T) n.4532C>T n.3133C>T c.3644C>T (p.Ala1215Val) c.3692C>T (p.Ala1231Val) c.3752C>T (p.Ala1251Val) c.3302C>T (p.Ala1101Val) c.1604C>T (p.Ala535Val) c.1421C>T (p.Ala474Val) c.3653C>T (p.Ala1218Val) c.3605C>T (p.Ala1202Val) c.3374C>T (p.Ala1125Val) c.3275C>T (p.Ala1092Val) c.2456C>T (p.Ala819Val) n.4007C>T | |
13 | g.51937591G>C | CA388022070 | ATP7B | c.*1438C>G (n.*1438C>G) c.*2532C>G (n.*2532C>G) c.3167C>G (p.Ala1056Gly) c.3788C>G (p.Ala1263Gly) c.3455C>G (p.Ala1152Gly) c.3536C>G (p.Ala1179Gly) n.1029C>G c.3554C>G (p.Ala1185Gly) n.3927C>G n.654C>G c.2723C>G (p.Ala908Gly) c.2498C>G (p.Ala833Gly) c.3593C>G (p.Ala1198Gly) c.1566C>G c.*889C>G (n.*889C>G) n.4532C>G n.3133C>G c.3644C>G (p.Ala1215Gly) c.3692C>G (p.Ala1231Gly) c.3752C>G (p.Ala1251Gly) c.3302C>G (p.Ala1101Gly) c.1604C>G (p.Ala535Gly) c.1421C>G (p.Ala474Gly) c.3653C>G (p.Ala1218Gly) c.3605C>G (p.Ala1202Gly) c.3374C>G (p.Ala1125Gly) c.3275C>G (p.Ala1092Gly) c.2456C>G (p.Ala819Gly) n.4007C>G | ClinVar |
13 | g.51937591G>T | CA388022074 | ATP7B | c.*1438C>A (n.*1438C>A) c.*2532C>A (n.*2532C>A) c.3167C>A (p.Ala1056Asp) c.3788C>A (p.Ala1263Asp) c.3455C>A (p.Ala1152Asp) c.3536C>A (p.Ala1179Asp) n.1029C>A c.3554C>A (p.Ala1185Asp) n.3927C>A n.654C>A c.2723C>A (p.Ala908Asp) c.2498C>A (p.Ala833Asp) c.3593C>A (p.Ala1198Asp) c.1566C>A c.*889C>A (n.*889C>A) n.4532C>A n.3133C>A c.3644C>A (p.Ala1215Asp) c.3692C>A (p.Ala1231Asp) c.3752C>A (p.Ala1251Asp) c.3302C>A (p.Ala1101Asp) c.1604C>A (p.Ala535Asp) c.1421C>A (p.Ala474Asp) c.3653C>A (p.Ala1218Asp) c.3605C>A (p.Ala1202Asp) c.3374C>A (p.Ala1125Asp) c.3275C>A (p.Ala1092Asp) c.2456C>A (p.Ala819Asp) n.4007C>A | |
13 | g.51937591_51937592delinsGC | CA2091554114 | ATP7B | c.*1437_*1438delinsGC (n.*1437_*1438delinsGC) c.*2531_*2532delinsGC (n.*2531_*2532delinsGC) c.3166_3167delinsGC (p.Ala1056=) c.3787_3788delinsGC (p.Ala1263=) c.3454_3455delinsGC (p.Ala1152=) c.3535_3536delinsGC (p.Ala1179=) n.1028_1029delinsGC c.3553_3554delinsGC (p.Ala1185=) n.3926_3927delinsGC n.653_654delinsGC c.2722_2723delinsGC (p.Ala908=) c.2497_2498delinsGC (p.Ala833=) c.3592_3593delinsGC (p.Ala1198=) c.1565_1566delinsGC c.*888_*889delinsGC (n.*888_*889delinsGC) n.4531_4532delinsGC n.3132_3133delinsGC c.3643_3644delinsGC (p.Ala1215=) c.3691_3692delinsGC (p.Ala1231=) c.3751_3752delinsGC (p.Ala1251=) c.3301_3302delinsGC (p.Ala1101=) c.1603_1604delinsGC (p.Ala535=) c.1420_1421delinsGC (p.Ala474=) c.3652_3653delinsGC (p.Ala1218=) c.3604_3605delinsGC (p.Ala1202=) c.3373_3374delinsGC (p.Ala1125=) c.3274_3275delinsGC (p.Ala1092=) c.2455_2456delinsGC (p.Ala819=) n.4006_4007delinsGC | |
13 | g.51937592del | CA6988566 | ATP7B | c.*1437del (n.*1437del) c.*2531del (n.*2531del) c.3166del (p.Ala1056ProfsTer?) c.3787del (p.Ala1263ProfsTer?) c.3454del (p.Ala1152ProfsTer?) c.3535del (p.Ala1179ProfsTer?) n.1028del c.3553del (p.Ala1185ProfsTer?) n.3926del n.653del c.2722del (p.Ala908ProfsTer?) c.2497del (p.Ala833ProfsTer?) c.3592del (p.Ala1198ProfsTer?) c.1565del c.*888del (n.*888del) n.4531del n.3132del c.3643del (p.Ala1215ProfsTer?) c.3691del (p.Ala1231ProfsTer?) c.3751del (p.Ala1251ProfsTer?) c.3301del (p.Ala1101ProfsTer?) c.1603del (p.Ala535ProfsTer?) c.1420del (p.Ala474ProfsTer?) c.3652del (p.Ala1218ProfsTer?) c.3604del (p.Ala1202ProfsTer?) c.3373del (p.Ala1125ProfsTer?) c.3274del (p.Ala1092ProfsTer?) c.2455del (p.Ala819ProfsTer?) n.4006del | dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.51937592C>A | CA388022075 | ATP7B | c.*1437G>T (n.*1437G>T) c.*2531G>T (n.*2531G>T) c.3166G>T (p.Ala1056Ser) c.3787G>T (p.Ala1263Ser) c.3454G>T (p.Ala1152Ser) c.3535G>T (p.Ala1179Ser) n.1028G>T c.3553G>T (p.Ala1185Ser) n.3926G>T n.653G>T c.2722G>T (p.Ala908Ser) c.2497G>T (p.Ala833Ser) c.3592G>T (p.Ala1198Ser) c.1565G>T c.*888G>T (n.*888G>T) n.4531G>T n.3132G>T c.3643G>T (p.Ala1215Ser) c.3691G>T (p.Ala1231Ser) c.3751G>T (p.Ala1251Ser) c.3301G>T (p.Ala1101Ser) c.1603G>T (p.Ala535Ser) c.1420G>T (p.Ala474Ser) c.3652G>T (p.Ala1218Ser) c.3604G>T (p.Ala1202Ser) c.3373G>T (p.Ala1125Ser) c.3274G>T (p.Ala1092Ser) c.2455G>T (p.Ala819Ser) n.4006G>T | dbSNP |
13 | g.51937592C= | CA2091554115 | ATP7B | c.*1437G= (n.*1437G=) c.*2531G= (n.*2531G=) c.3166G= (p.Ala1056=) c.3787G= (p.Ala1263=) c.3454G= (p.Ala1152=) c.3535G= (p.Ala1179=) n.1028G= c.3553G= (p.Ala1185=) n.3926G= n.653G= c.2722G= (p.Ala908=) c.2497G= (p.Ala833=) c.3592G= (p.Ala1198=) c.1565G= c.*888G= (n.*888G=) n.4531G= n.3132G= c.3643G= (p.Ala1215=) c.3691G= (p.Ala1231=) c.3751G= (p.Ala1251=) c.3301G= (p.Ala1101=) c.1603G= (p.Ala535=) c.1420G= (p.Ala474=) c.3652G= (p.Ala1218=) c.3604G= (p.Ala1202=) c.3373G= (p.Ala1125=) c.3274G= (p.Ala1092=) c.2455G= (p.Ala819=) n.4006G= | |
13 | g.51937592C>G | CA388022076 | ATP7B | c.*1437G>C (n.*1437G>C) c.*2531G>C (n.*2531G>C) c.3166G>C (p.Ala1056Pro) c.3787G>C (p.Ala1263Pro) c.3454G>C (p.Ala1152Pro) c.3535G>C (p.Ala1179Pro) n.1028G>C c.3553G>C (p.Ala1185Pro) n.3926G>C n.653G>C c.2722G>C (p.Ala908Pro) c.2497G>C (p.Ala833Pro) c.3592G>C (p.Ala1198Pro) c.1565G>C c.*888G>C (n.*888G>C) n.4531G>C n.3132G>C c.3643G>C (p.Ala1215Pro) c.3691G>C (p.Ala1231Pro) c.3751G>C (p.Ala1251Pro) c.3301G>C (p.Ala1101Pro) c.1603G>C (p.Ala535Pro) c.1420G>C (p.Ala474Pro) c.3652G>C (p.Ala1218Pro) c.3604G>C (p.Ala1202Pro) c.3373G>C (p.Ala1125Pro) c.3274G>C (p.Ala1092Pro) c.2455G>C (p.Ala819Pro) n.4006G>C | |
13 | g.51937592C>T | CA6988567 | ATP7B | c.*1437G>A (n.*1437G>A) c.*2531G>A (n.*2531G>A) c.3166G>A (p.Ala1056Thr) c.3787G>A (p.Ala1263Thr) c.3454G>A (p.Ala1152Thr) c.3535G>A (p.Ala1179Thr) n.1028G>A c.3553G>A (p.Ala1185Thr) n.3926G>A n.653G>A c.2722G>A (p.Ala908Thr) c.2497G>A (p.Ala833Thr) c.3592G>A (p.Ala1198Thr) c.1565G>A c.*888G>A (n.*888G>A) n.4531G>A n.3132G>A c.3643G>A (p.Ala1215Thr) c.3691G>A (p.Ala1231Thr) c.3751G>A (p.Ala1251Thr) c.3301G>A (p.Ala1101Thr) c.1603G>A (p.Ala535Thr) c.1420G>A (p.Ala474Thr) c.3652G>A (p.Ala1218Thr) c.3604G>A (p.Ala1202Thr) c.3373G>A (p.Ala1125Thr) c.3274G>A (p.Ala1092Thr) c.2455G>A (p.Ala819Thr) n.4006G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937593G>A | CA6988568 | ATP7B | c.*1436C>T (n.*1436C>T) c.*2530C>T (n.*2530C>T) c.3165C>T (p.Val1055=) c.3786C>T (p.Val1262=) c.3453C>T (p.Val1151=) c.3534C>T (p.Val1178=) n.1027C>T c.3552C>T (p.Val1184=) n.3925C>T n.652C>T c.2721C>T (p.Val907=) c.2496C>T (p.Val832=) c.3591C>T (p.Val1197=) c.1564C>T c.*887C>T (n.*887C>T) n.4530C>T n.3131C>T c.3642C>T (p.Val1214=) c.3690C>T (p.Val1230=) c.3750C>T (p.Val1250=) c.3300C>T (p.Val1100=) c.1602C>T (p.Val534=) c.1419C>T (p.Val473=) c.3651C>T (p.Val1217=) c.3603C>T (p.Val1201=) c.3372C>T (p.Val1124=) c.3273C>T (p.Val1091=) c.2454C>T (p.Val818=) n.4005C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937593G>C | CA484024347 | ATP7B | c.*1436C>G (n.*1436C>G) c.*2530C>G (n.*2530C>G) c.3165C>G (p.Val1055=) c.3786C>G (p.Val1262=) c.3453C>G (p.Val1151=) c.3534C>G (p.Val1178=) n.1027C>G c.3552C>G (p.Val1184=) n.3925C>G n.652C>G c.2721C>G (p.Val907=) c.2496C>G (p.Val832=) c.3591C>G (p.Val1197=) c.1564C>G c.*887C>G (n.*887C>G) n.4530C>G n.3131C>G c.3642C>G (p.Val1214=) c.3690C>G (p.Val1230=) c.3750C>G (p.Val1250=) c.3300C>G (p.Val1100=) c.1602C>G (p.Val534=) c.1419C>G (p.Val473=) c.3651C>G (p.Val1217=) c.3603C>G (p.Val1201=) c.3372C>G (p.Val1124=) c.3273C>G (p.Val1091=) c.2454C>G (p.Val818=) n.4005C>G | |
13 | g.51937593G= | CA2091554116 | ATP7B | c.*1436C= (n.*1436C=) c.*2530C= (n.*2530C=) c.3165C= (p.Val1055=) c.3786C= (p.Val1262=) c.3453C= (p.Val1151=) c.3534C= (p.Val1178=) n.1027C= c.3552C= (p.Val1184=) n.3925C= n.652C= c.2721C= (p.Val907=) c.2496C= (p.Val832=) c.3591C= (p.Val1197=) c.1564C= c.*887C= (n.*887C=) n.4530C= n.3131C= c.3642C= (p.Val1214=) c.3690C= (p.Val1230=) c.3750C= (p.Val1250=) c.3300C= (p.Val1100=) c.1602C= (p.Val534=) c.1419C= (p.Val473=) c.3651C= (p.Val1217=) c.3603C= (p.Val1201=) c.3372C= (p.Val1124=) c.3273C= (p.Val1091=) c.2454C= (p.Val818=) n.4005C= | |
13 | g.51937593G>T | CA484024348 | ATP7B | c.*1436C>A (n.*1436C>A) c.*2530C>A (n.*2530C>A) c.3165C>A (p.Val1055=) c.3786C>A (p.Val1262=) c.3453C>A (p.Val1151=) c.3534C>A (p.Val1178=) n.1027C>A c.3552C>A (p.Val1184=) n.3925C>A n.652C>A c.2721C>A (p.Val907=) c.2496C>A (p.Val832=) c.3591C>A (p.Val1197=) c.1564C>A c.*887C>A (n.*887C>A) n.4530C>A n.3131C>A c.3642C>A (p.Val1214=) c.3690C>A (p.Val1230=) c.3750C>A (p.Val1250=) c.3300C>A (p.Val1100=) c.1602C>A (p.Val534=) c.1419C>A (p.Val473=) c.3651C>A (p.Val1217=) c.3603C>A (p.Val1201=) c.3372C>A (p.Val1124=) c.3273C>A (p.Val1091=) c.2454C>A (p.Val818=) n.4005C>A | |
13 | g.51937594A>C | CA388022081 | ATP7B | c.*1435T>G (n.*1435T>G) c.*2529T>G (n.*2529T>G) c.3164T>G (p.Val1055Gly) c.3785T>G (p.Val1262Gly) c.3452T>G (p.Val1151Gly) c.3533T>G (p.Val1178Gly) n.1026T>G c.3551T>G (p.Val1184Gly) n.3924T>G n.651T>G c.2720T>G (p.Val907Gly) c.2495T>G (p.Val832Gly) c.3590T>G (p.Val1197Gly) c.1563T>G c.*886T>G (n.*886T>G) n.4529T>G n.3130T>G c.3641T>G (p.Val1214Gly) c.3689T>G (p.Val1230Gly) c.3749T>G (p.Val1250Gly) c.3299T>G (p.Val1100Gly) c.1601T>G (p.Val534Gly) c.1418T>G (p.Val473Gly) c.3650T>G (p.Val1217Gly) c.3602T>G (p.Val1201Gly) c.3371T>G (p.Val1124Gly) c.3272T>G (p.Val1091Gly) c.2453T>G (p.Val818Gly) n.4004T>G | |
13 | g.51937594A>G | CA388022085 | ATP7B | c.*1435T>C (n.*1435T>C) c.*2529T>C (n.*2529T>C) c.3164T>C (p.Val1055Ala) c.3785T>C (p.Val1262Ala) c.3452T>C (p.Val1151Ala) c.3533T>C (p.Val1178Ala) n.1026T>C c.3551T>C (p.Val1184Ala) n.3924T>C n.651T>C c.2720T>C (p.Val907Ala) c.2495T>C (p.Val832Ala) c.3590T>C (p.Val1197Ala) c.1563T>C c.*886T>C (n.*886T>C) n.4529T>C n.3130T>C c.3641T>C (p.Val1214Ala) c.3689T>C (p.Val1230Ala) c.3749T>C (p.Val1250Ala) c.3299T>C (p.Val1100Ala) c.1601T>C (p.Val534Ala) c.1418T>C (p.Val473Ala) c.3650T>C (p.Val1217Ala) c.3602T>C (p.Val1201Ala) c.3371T>C (p.Val1124Ala) c.3272T>C (p.Val1091Ala) c.2453T>C (p.Val818Ala) n.4004T>C | |
13 | g.51937594A>T | CA388022083 | ATP7B | c.*1435T>A (n.*1435T>A) c.*2529T>A (n.*2529T>A) c.3164T>A (p.Val1055Asp) c.3785T>A (p.Val1262Asp) c.3452T>A (p.Val1151Asp) c.3533T>A (p.Val1178Asp) n.1026T>A c.3551T>A (p.Val1184Asp) n.3924T>A n.651T>A c.2720T>A (p.Val907Asp) c.2495T>A (p.Val832Asp) c.3590T>A (p.Val1197Asp) c.1563T>A c.*886T>A (n.*886T>A) n.4529T>A n.3130T>A c.3641T>A (p.Val1214Asp) c.3689T>A (p.Val1230Asp) c.3749T>A (p.Val1250Asp) c.3299T>A (p.Val1100Asp) c.1601T>A (p.Val534Asp) c.1418T>A (p.Val473Asp) c.3650T>A (p.Val1217Asp) c.3602T>A (p.Val1201Asp) c.3371T>A (p.Val1124Asp) c.3272T>A (p.Val1091Asp) c.2453T>A (p.Val818Asp) n.4004T>A | |
13 | g.51937595C>A | CA6988569 | ATP7B | c.*1434G>T (n.*1434G>T) c.*2528G>T (n.*2528G>T) c.3163G>T (p.Val1055Phe) c.3784G>T (p.Val1262Phe) c.3451G>T (p.Val1151Phe) c.3532G>T (p.Val1178Phe) n.1025G>T c.3550G>T (p.Val1184Phe) n.3923G>T n.650G>T c.2719G>T (p.Val907Phe) c.2494G>T (p.Val832Phe) c.3589G>T (p.Val1197Phe) c.1562G>T c.*885G>T (n.*885G>T) n.4528G>T n.3129G>T c.3640G>T (p.Val1214Phe) c.3688G>T (p.Val1230Phe) c.3748G>T (p.Val1250Phe) c.3298G>T (p.Val1100Phe) c.1600G>T (p.Val534Phe) c.1417G>T (p.Val473Phe) c.3649G>T (p.Val1217Phe) c.3601G>T (p.Val1201Phe) c.3370G>T (p.Val1124Phe) c.3271G>T (p.Val1091Phe) c.2452G>T (p.Val818Phe) n.4003G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937595C= | CA2091554121 | ATP7B | c.*1434G= (n.*1434G=) c.*2528G= (n.*2528G=) c.3163G= (p.Val1055=) c.3784G= (p.Val1262=) c.3451G= (p.Val1151=) c.3532G= (p.Val1178=) n.1025G= c.3550G= (p.Val1184=) n.3923G= n.650G= c.2719G= (p.Val907=) c.2494G= (p.Val832=) c.3589G= (p.Val1197=) c.1562G= c.*885G= (n.*885G=) n.4528G= n.3129G= c.3640G= (p.Val1214=) c.3688G= (p.Val1230=) c.3748G= (p.Val1250=) c.3298G= (p.Val1100=) c.1600G= (p.Val534=) c.1417G= (p.Val473=) c.3649G= (p.Val1217=) c.3601G= (p.Val1201=) c.3370G= (p.Val1124=) c.3271G= (p.Val1091=) c.2452G= (p.Val818=) n.4003G= | |
13 | g.51937595C>G | CA388022090 | ATP7B | c.*1434G>C (n.*1434G>C) c.*2528G>C (n.*2528G>C) c.3163G>C (p.Val1055Leu) c.3784G>C (p.Val1262Leu) c.3451G>C (p.Val1151Leu) c.3532G>C (p.Val1178Leu) n.1025G>C c.3550G>C (p.Val1184Leu) n.3923G>C n.650G>C c.2719G>C (p.Val907Leu) c.2494G>C (p.Val832Leu) c.3589G>C (p.Val1197Leu) c.1562G>C c.*885G>C (n.*885G>C) n.4528G>C n.3129G>C c.3640G>C (p.Val1214Leu) c.3688G>C (p.Val1230Leu) c.3748G>C (p.Val1250Leu) c.3298G>C (p.Val1100Leu) c.1600G>C (p.Val534Leu) c.1417G>C (p.Val473Leu) c.3649G>C (p.Val1217Leu) c.3601G>C (p.Val1201Leu) c.3370G>C (p.Val1124Leu) c.3271G>C (p.Val1091Leu) c.2452G>C (p.Val818Leu) n.4003G>C | |
13 | g.51937595C>T | CA388022093 | ATP7B | c.*1434G>A (n.*1434G>A) c.*2528G>A (n.*2528G>A) c.3163G>A (p.Val1055Ile) c.3784G>A (p.Val1262Ile) c.3451G>A (p.Val1151Ile) c.3532G>A (p.Val1178Ile) n.1025G>A c.3550G>A (p.Val1184Ile) n.3923G>A n.650G>A c.2719G>A (p.Val907Ile) c.2494G>A (p.Val832Ile) c.3589G>A (p.Val1197Ile) c.1562G>A c.*885G>A (n.*885G>A) n.4528G>A n.3129G>A c.3640G>A (p.Val1214Ile) c.3688G>A (p.Val1230Ile) c.3748G>A (p.Val1250Ile) c.3298G>A (p.Val1100Ile) c.1600G>A (p.Val534Ile) c.1417G>A (p.Val473Ile) c.3649G>A (p.Val1217Ile) c.3601G>A (p.Val1201Ile) c.3370G>A (p.Val1124Ile) c.3271G>A (p.Val1091Ile) c.2452G>A (p.Val818Ile) n.4003G>A | |
13 | g.51937596T>A | CA388022096 | ATP7B | c.*1433A>T (n.*1433A>T) c.*2527A>T (n.*2527A>T) c.3162A>T (p.Lys1054Asn) c.3783A>T (p.Lys1261Asn) c.3450A>T (p.Lys1150Asn) c.3531A>T (p.Lys1177Asn) n.1024A>T c.3549A>T (p.Lys1183Asn) n.3922A>T n.649A>T c.2718A>T (p.Lys906Asn) c.2493A>T (p.Lys831Asn) c.3588A>T (p.Lys1196Asn) c.1561A>T c.*884A>T (n.*884A>T) n.4527A>T n.3128A>T c.3639A>T (p.Lys1213Asn) c.3687A>T (p.Lys1229Asn) c.3747A>T (p.Lys1249Asn) c.3297A>T (p.Lys1099Asn) c.1599A>T (p.Lys533Asn) c.1416A>T (p.Lys472Asn) c.3648A>T (p.Lys1216Asn) c.3600A>T (p.Lys1200Asn) c.3369A>T (p.Lys1123Asn) c.3270A>T (p.Lys1090Asn) c.2451A>T (p.Lys817Asn) n.4002A>T | |
13 | g.51937596T>C | CA6988570 | ATP7B | c.*1433A>G (n.*1433A>G) c.*2527A>G (n.*2527A>G) c.3162A>G (p.Lys1054=) c.3783A>G (p.Lys1261=) c.3450A>G (p.Lys1150=) c.3531A>G (p.Lys1177=) n.1024A>G c.3549A>G (p.Lys1183=) n.3922A>G n.649A>G c.2718A>G (p.Lys906=) c.2493A>G (p.Lys831=) c.3588A>G (p.Lys1196=) c.1561A>G c.*884A>G (n.*884A>G) n.4527A>G n.3128A>G c.3639A>G (p.Lys1213=) c.3687A>G (p.Lys1229=) c.3747A>G (p.Lys1249=) c.3297A>G (p.Lys1099=) c.1599A>G (p.Lys533=) c.1416A>G (p.Lys472=) c.3648A>G (p.Lys1216=) c.3600A>G (p.Lys1200=) c.3369A>G (p.Lys1123=) c.3270A>G (p.Lys1090=) c.2451A>G (p.Lys817=) n.4002A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937596T>G | CA388022100 | ATP7B | c.*1433A>C (n.*1433A>C) c.*2527A>C (n.*2527A>C) c.3162A>C (p.Lys1054Asn) c.3783A>C (p.Lys1261Asn) c.3450A>C (p.Lys1150Asn) c.3531A>C (p.Lys1177Asn) n.1024A>C c.3549A>C (p.Lys1183Asn) n.3922A>C n.649A>C c.2718A>C (p.Lys906Asn) c.2493A>C (p.Lys831Asn) c.3588A>C (p.Lys1196Asn) c.1561A>C c.*884A>C (n.*884A>C) n.4527A>C n.3128A>C c.3639A>C (p.Lys1213Asn) c.3687A>C (p.Lys1229Asn) c.3747A>C (p.Lys1249Asn) c.3297A>C (p.Lys1099Asn) c.1599A>C (p.Lys533Asn) c.1416A>C (p.Lys472Asn) c.3648A>C (p.Lys1216Asn) c.3600A>C (p.Lys1200Asn) c.3369A>C (p.Lys1123Asn) c.3270A>C (p.Lys1090Asn) c.2451A>C (p.Lys817Asn) n.4002A>C | |
13 | g.51937596T= | CA2091554124 | ATP7B | c.*1433A= (n.*1433A=) c.*2527A= (n.*2527A=) c.3162A= (p.Lys1054=) c.3783A= (p.Lys1261=) c.3450A= (p.Lys1150=) c.3531A= (p.Lys1177=) n.1024A= c.3549A= (p.Lys1183=) n.3922A= n.649A= c.2718A= (p.Lys906=) c.2493A= (p.Lys831=) c.3588A= (p.Lys1196=) c.1561A= c.*884A= (n.*884A=) n.4527A= n.3128A= c.3639A= (p.Lys1213=) c.3687A= (p.Lys1229=) c.3747A= (p.Lys1249=) c.3297A= (p.Lys1099=) c.1599A= (p.Lys533=) c.1416A= (p.Lys472=) c.3648A= (p.Lys1216=) c.3600A= (p.Lys1200=) c.3369A= (p.Lys1123=) c.3270A= (p.Lys1090=) c.2451A= (p.Lys817=) n.4002A= | |
13 | g.51937597T>A | CA388022103 | ATP7B | c.*1432A>T (n.*1432A>T) c.*2526A>T (n.*2526A>T) c.3161A>T (p.Lys1054Ile) c.3782A>T (p.Lys1261Ile) c.3449A>T (p.Lys1150Ile) c.3530A>T (p.Lys1177Ile) n.1023A>T c.3548A>T (p.Lys1183Ile) n.3921A>T n.648A>T c.2717A>T (p.Lys906Ile) c.2492A>T (p.Lys831Ile) c.3587A>T (p.Lys1196Ile) c.1560A>T c.*883A>T (n.*883A>T) n.4526A>T n.3127A>T c.3638A>T (p.Lys1213Ile) c.3686A>T (p.Lys1229Ile) c.3746A>T (p.Lys1249Ile) c.3296A>T (p.Lys1099Ile) c.1598A>T (p.Lys533Ile) c.1415A>T (p.Lys472Ile) c.3647A>T (p.Lys1216Ile) c.3599A>T (p.Lys1200Ile) c.3368A>T (p.Lys1123Ile) c.3269A>T (p.Lys1090Ile) c.2450A>T (p.Lys817Ile) n.4001A>T | |
13 | g.51937597T>C | CA250073735 | ATP7B | c.*1432A>G (n.*1432A>G) c.*2526A>G (n.*2526A>G) c.3161A>G (p.Lys1054Arg) c.3782A>G (p.Lys1261Arg) c.3449A>G (p.Lys1150Arg) c.3530A>G (p.Lys1177Arg) n.1023A>G c.3548A>G (p.Lys1183Arg) n.3921A>G n.648A>G c.2717A>G (p.Lys906Arg) c.2492A>G (p.Lys831Arg) c.3587A>G (p.Lys1196Arg) c.1560A>G c.*883A>G (n.*883A>G) n.4526A>G n.3127A>G c.3638A>G (p.Lys1213Arg) c.3686A>G (p.Lys1229Arg) c.3746A>G (p.Lys1249Arg) c.3296A>G (p.Lys1099Arg) c.1598A>G (p.Lys533Arg) c.1415A>G (p.Lys472Arg) c.3647A>G (p.Lys1216Arg) c.3599A>G (p.Lys1200Arg) c.3368A>G (p.Lys1123Arg) c.3269A>G (p.Lys1090Arg) c.2450A>G (p.Lys817Arg) n.4001A>G | dbSNP |
13 | g.51937597T>G | CA388022108 | ATP7B | c.*1432A>C (n.*1432A>C) c.*2526A>C (n.*2526A>C) c.3161A>C (p.Lys1054Thr) c.3782A>C (p.Lys1261Thr) c.3449A>C (p.Lys1150Thr) c.3530A>C (p.Lys1177Thr) n.1023A>C c.3548A>C (p.Lys1183Thr) n.3921A>C n.648A>C c.2717A>C (p.Lys906Thr) c.2492A>C (p.Lys831Thr) c.3587A>C (p.Lys1196Thr) c.1560A>C c.*883A>C (n.*883A>C) n.4526A>C n.3127A>C c.3638A>C (p.Lys1213Thr) c.3686A>C (p.Lys1229Thr) c.3746A>C (p.Lys1249Thr) c.3296A>C (p.Lys1099Thr) c.1598A>C (p.Lys533Thr) c.1415A>C (p.Lys472Thr) c.3647A>C (p.Lys1216Thr) c.3599A>C (p.Lys1200Thr) c.3368A>C (p.Lys1123Thr) c.3269A>C (p.Lys1090Thr) c.2450A>C (p.Lys817Thr) n.4001A>C | |
13 | g.51937597T= | CA2091554128 | ATP7B | c.*1432A= (n.*1432A=) c.*2526A= (n.*2526A=) c.3161A= (p.Lys1054=) c.3782A= (p.Lys1261=) c.3449A= (p.Lys1150=) c.3530A= (p.Lys1177=) n.1023A= c.3548A= (p.Lys1183=) n.3921A= n.648A= c.2717A= (p.Lys906=) c.2492A= (p.Lys831=) c.3587A= (p.Lys1196=) c.1560A= c.*883A= (n.*883A=) n.4526A= n.3127A= c.3638A= (p.Lys1213=) c.3686A= (p.Lys1229=) c.3746A= (p.Lys1249=) c.3296A= (p.Lys1099=) c.1598A= (p.Lys533=) c.1415A= (p.Lys472=) c.3647A= (p.Lys1216=) c.3599A= (p.Lys1200=) c.3368A= (p.Lys1123=) c.3269A= (p.Lys1090=) c.2450A= (p.Lys817=) n.4001A= | |
13 | g.51937598T>A | CA388022115 | ATP7B | c.*1431A>T (n.*1431A>T) c.*2525A>T (n.*2525A>T) c.3160A>T (p.Lys1054Ter) c.3781A>T (p.Lys1261Ter) c.3448A>T (p.Lys1150Ter) c.3529A>T (p.Lys1177Ter) n.1022A>T c.3547A>T (p.Lys1183Ter) n.3920A>T n.647A>T c.2716A>T (p.Lys906Ter) c.2491A>T (p.Lys831Ter) c.3586A>T (p.Lys1196Ter) c.1559A>T c.*882A>T (n.*882A>T) n.4525A>T n.3126A>T c.3637A>T (p.Lys1213Ter) c.3685A>T (p.Lys1229Ter) c.3745A>T (p.Lys1249Ter) c.3295A>T (p.Lys1099Ter) c.1597A>T (p.Lys533Ter) c.1414A>T (p.Lys472Ter) c.3646A>T (p.Lys1216Ter) c.3598A>T (p.Lys1200Ter) c.3367A>T (p.Lys1123Ter) c.3268A>T (p.Lys1090Ter) c.2449A>T (p.Lys817Ter) n.4000A>T | |
13 | g.51937598T>C | CA388022117 | ATP7B | c.*1431A>G (n.*1431A>G) c.*2525A>G (n.*2525A>G) c.3160A>G (p.Lys1054Glu) c.3781A>G (p.Lys1261Glu) c.3448A>G (p.Lys1150Glu) c.3529A>G (p.Lys1177Glu) n.1022A>G c.3547A>G (p.Lys1183Glu) n.3920A>G n.647A>G c.2716A>G (p.Lys906Glu) c.2491A>G (p.Lys831Glu) c.3586A>G (p.Lys1196Glu) c.1559A>G c.*882A>G (n.*882A>G) n.4525A>G n.3126A>G c.3637A>G (p.Lys1213Glu) c.3685A>G (p.Lys1229Glu) c.3745A>G (p.Lys1249Glu) c.3295A>G (p.Lys1099Glu) c.1597A>G (p.Lys533Glu) c.1414A>G (p.Lys472Glu) c.3646A>G (p.Lys1216Glu) c.3598A>G (p.Lys1200Glu) c.3367A>G (p.Lys1123Glu) c.3268A>G (p.Lys1090Glu) c.2449A>G (p.Lys817Glu) n.4000A>G | gnomAD v4 |
13 | g.51937598T>G | CA388022119 | ATP7B | c.*1431A>C (n.*1431A>C) c.*2525A>C (n.*2525A>C) c.3160A>C (p.Lys1054Gln) c.3781A>C (p.Lys1261Gln) c.3448A>C (p.Lys1150Gln) c.3529A>C (p.Lys1177Gln) n.1022A>C c.3547A>C (p.Lys1183Gln) n.3920A>C n.647A>C c.2716A>C (p.Lys906Gln) c.2491A>C (p.Lys831Gln) c.3586A>C (p.Lys1196Gln) c.1559A>C c.*882A>C (n.*882A>C) n.4525A>C n.3126A>C c.3637A>C (p.Lys1213Gln) c.3685A>C (p.Lys1229Gln) c.3745A>C (p.Lys1249Gln) c.3295A>C (p.Lys1099Gln) c.1597A>C (p.Lys533Gln) c.1414A>C (p.Lys472Gln) c.3646A>C (p.Lys1216Gln) c.3598A>C (p.Lys1200Gln) c.3367A>C (p.Lys1123Gln) c.3268A>C (p.Lys1090Gln) c.2449A>C (p.Lys817Gln) n.4000A>C | |
13 | g.51937599C>A | CA388022123 | ATP7B | c.*1430G>T (n.*1430G>T) c.*2524G>T (n.*2524G>T) c.3159G>T (p.Lys1053Asn) c.3780G>T (p.Lys1260Asn) c.3447G>T (p.Lys1149Asn) c.3528G>T (p.Lys1176Asn) n.1021G>T c.3546G>T (p.Lys1182Asn) n.3919G>T n.646G>T c.2715G>T (p.Lys905Asn) c.2490G>T (p.Lys830Asn) c.3585G>T (p.Lys1195Asn) c.1558G>T c.*881G>T (n.*881G>T) n.4524G>T n.3125G>T c.3636G>T (p.Lys1212Asn) c.3684G>T (p.Lys1228Asn) c.3744G>T (p.Lys1248Asn) c.3294G>T (p.Lys1098Asn) c.1596G>T (p.Lys532Asn) c.1413G>T (p.Lys471Asn) c.3645G>T (p.Lys1215Asn) c.3597G>T (p.Lys1199Asn) c.3366G>T (p.Lys1122Asn) c.3267G>T (p.Lys1089Asn) c.2448G>T (p.Lys816Asn) n.3999G>T | gnomAD v4 |
13 | g.51937599C>G | CA388022121 | ATP7B | c.*1430G>C (n.*1430G>C) c.*2524G>C (n.*2524G>C) c.3159G>C (p.Lys1053Asn) c.3780G>C (p.Lys1260Asn) c.3447G>C (p.Lys1149Asn) c.3528G>C (p.Lys1176Asn) n.1021G>C c.3546G>C (p.Lys1182Asn) n.3919G>C n.646G>C c.2715G>C (p.Lys905Asn) c.2490G>C (p.Lys830Asn) c.3585G>C (p.Lys1195Asn) c.1558G>C c.*881G>C (n.*881G>C) n.4524G>C n.3125G>C c.3636G>C (p.Lys1212Asn) c.3684G>C (p.Lys1228Asn) c.3744G>C (p.Lys1248Asn) c.3294G>C (p.Lys1098Asn) c.1596G>C (p.Lys532Asn) c.1413G>C (p.Lys471Asn) c.3645G>C (p.Lys1215Asn) c.3597G>C (p.Lys1199Asn) c.3366G>C (p.Lys1122Asn) c.3267G>C (p.Lys1089Asn) c.2448G>C (p.Lys816Asn) n.3999G>C | COSMIC |
13 | g.51937599C>T | CA484024349 | ATP7B | c.*1430G>A (n.*1430G>A) c.*2524G>A (n.*2524G>A) c.3159G>A (p.Lys1053=) c.3780G>A (p.Lys1260=) c.3447G>A (p.Lys1149=) c.3528G>A (p.Lys1176=) n.1021G>A c.3546G>A (p.Lys1182=) n.3919G>A n.646G>A c.2715G>A (p.Lys905=) c.2490G>A (p.Lys830=) c.3585G>A (p.Lys1195=) c.1558G>A c.*881G>A (n.*881G>A) n.4524G>A n.3125G>A c.3636G>A (p.Lys1212=) c.3684G>A (p.Lys1228=) c.3744G>A (p.Lys1248=) c.3294G>A (p.Lys1098=) c.1596G>A (p.Lys532=) c.1413G>A (p.Lys471=) c.3645G>A (p.Lys1215=) c.3597G>A (p.Lys1199=) c.3366G>A (p.Lys1122=) c.3267G>A (p.Lys1089=) c.2448G>A (p.Lys816=) n.3999G>A | |
13 | g.51937600T>A | CA388022127 | ATP7B | c.*1429A>T (n.*1429A>T) c.*2523A>T (n.*2523A>T) c.3158A>T (p.Lys1053Met) c.3779A>T (p.Lys1260Met) c.3446A>T (p.Lys1149Met) c.3527A>T (p.Lys1176Met) n.1020A>T c.3545A>T (p.Lys1182Met) n.3918A>T n.645A>T c.2714A>T (p.Lys905Met) c.2489A>T (p.Lys830Met) c.3584A>T (p.Lys1195Met) c.1557A>T c.*880A>T (n.*880A>T) n.4523A>T n.3124A>T c.3635A>T (p.Lys1212Met) c.3683A>T (p.Lys1228Met) c.3743A>T (p.Lys1248Met) c.3293A>T (p.Lys1098Met) c.1595A>T (p.Lys532Met) c.1412A>T (p.Lys471Met) c.3644A>T (p.Lys1215Met) c.3596A>T (p.Lys1199Met) c.3365A>T (p.Lys1122Met) c.3266A>T (p.Lys1089Met) c.2447A>T (p.Lys816Met) n.3998A>T | |
13 | g.51937600T>C | CA6988571 | ATP7B | c.*1429A>G (n.*1429A>G) c.*2523A>G (n.*2523A>G) c.3158A>G (p.Lys1053Arg) c.3779A>G (p.Lys1260Arg) c.3446A>G (p.Lys1149Arg) c.3527A>G (p.Lys1176Arg) n.1020A>G c.3545A>G (p.Lys1182Arg) n.3918A>G n.645A>G c.2714A>G (p.Lys905Arg) c.2489A>G (p.Lys830Arg) c.3584A>G (p.Lys1195Arg) c.1557A>G c.*880A>G (n.*880A>G) n.4523A>G n.3124A>G c.3635A>G (p.Lys1212Arg) c.3683A>G (p.Lys1228Arg) c.3743A>G (p.Lys1248Arg) c.3293A>G (p.Lys1098Arg) c.1595A>G (p.Lys532Arg) c.1412A>G (p.Lys471Arg) c.3644A>G (p.Lys1215Arg) c.3596A>G (p.Lys1199Arg) c.3365A>G (p.Lys1122Arg) c.3266A>G (p.Lys1089Arg) c.2447A>G (p.Lys816Arg) n.3998A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937600T>G | CA388022130 | ATP7B | c.*1429A>C (n.*1429A>C) c.*2523A>C (n.*2523A>C) c.3158A>C (p.Lys1053Thr) c.3779A>C (p.Lys1260Thr) c.3446A>C (p.Lys1149Thr) c.3527A>C (p.Lys1176Thr) n.1020A>C c.3545A>C (p.Lys1182Thr) n.3918A>C n.645A>C c.2714A>C (p.Lys905Thr) c.2489A>C (p.Lys830Thr) c.3584A>C (p.Lys1195Thr) c.1557A>C c.*880A>C (n.*880A>C) n.4523A>C n.3124A>C c.3635A>C (p.Lys1212Thr) c.3683A>C (p.Lys1228Thr) c.3743A>C (p.Lys1248Thr) c.3293A>C (p.Lys1098Thr) c.1595A>C (p.Lys532Thr) c.1412A>C (p.Lys471Thr) c.3644A>C (p.Lys1215Thr) c.3596A>C (p.Lys1199Thr) c.3365A>C (p.Lys1122Thr) c.3266A>C (p.Lys1089Thr) c.2447A>C (p.Lys816Thr) n.3998A>C | |
13 | g.51937600T= | CA2091554132 | ATP7B | c.*1429A= (n.*1429A=) c.*2523A= (n.*2523A=) c.3158A= (p.Lys1053=) c.3779A= (p.Lys1260=) c.3446A= (p.Lys1149=) c.3527A= (p.Lys1176=) n.1020A= c.3545A= (p.Lys1182=) n.3918A= n.645A= c.2714A= (p.Lys905=) c.2489A= (p.Lys830=) c.3584A= (p.Lys1195=) c.1557A= c.*880A= (n.*880A=) n.4523A= n.3124A= c.3635A= (p.Lys1212=) c.3683A= (p.Lys1228=) c.3743A= (p.Lys1248=) c.3293A= (p.Lys1098=) c.1595A= (p.Lys532=) c.1412A= (p.Lys471=) c.3644A= (p.Lys1215=) c.3596A= (p.Lys1199=) c.3365A= (p.Lys1122=) c.3266A= (p.Lys1089=) c.2447A= (p.Lys816=) n.3998A= | |
13 | g.51937601del | CA2623119310 | ATP7B | c.*1429del (n.*1429del) c.*2523del (n.*2523del) c.3158del (p.Lys1053ArgfsTer?) c.3779del (p.Lys1260ArgfsTer?) c.3446del (p.Lys1149ArgfsTer?) c.3527del (p.Lys1176ArgfsTer?) n.1020del c.3545del (p.Lys1182ArgfsTer?) n.3918del n.645del c.2714del (p.Lys905ArgfsTer?) c.2489del (p.Lys830ArgfsTer?) c.3584del (p.Lys1195ArgfsTer?) c.1557del c.*880del (n.*880del) n.4523del n.3124del c.3635del (p.Lys1212ArgfsTer?) c.3683del (p.Lys1228ArgfsTer?) c.3743del (p.Lys1248ArgfsTer?) c.3293del (p.Lys1098ArgfsTer?) c.1595del (p.Lys532ArgfsTer?) c.1412del (p.Lys471ArgfsTer?) c.3644del (p.Lys1215ArgfsTer?) c.3596del (p.Lys1199ArgfsTer?) c.3365del (p.Lys1122ArgfsTer?) c.3266del (p.Lys1089ArgfsTer?) c.2447del (p.Lys816ArgfsTer?) n.3998del | gnomAD v4 |
13 | g.51937601T>A | CA388022133 | ATP7B | c.*1428A>T (n.*1428A>T) c.*2522A>T (n.*2522A>T) c.3157A>T (p.Lys1053Ter) c.3778A>T (p.Lys1260Ter) c.3445A>T (p.Lys1149Ter) c.3526A>T (p.Lys1176Ter) n.1019A>T c.3544A>T (p.Lys1182Ter) n.3917A>T n.644A>T c.2713A>T (p.Lys905Ter) c.2488A>T (p.Lys830Ter) c.3583A>T (p.Lys1195Ter) c.1556A>T c.*879A>T (n.*879A>T) n.4522A>T n.3123A>T c.3634A>T (p.Lys1212Ter) c.3682A>T (p.Lys1228Ter) c.3742A>T (p.Lys1248Ter) c.3292A>T (p.Lys1098Ter) c.1594A>T (p.Lys532Ter) c.1411A>T (p.Lys471Ter) c.3643A>T (p.Lys1215Ter) c.3595A>T (p.Lys1199Ter) c.3364A>T (p.Lys1122Ter) c.3265A>T (p.Lys1089Ter) c.2446A>T (p.Lys816Ter) n.3997A>T | |
13 | g.51937601T>C | CA388022134 | ATP7B | c.*1428A>G (n.*1428A>G) c.*2522A>G (n.*2522A>G) c.3157A>G (p.Lys1053Glu) c.3778A>G (p.Lys1260Glu) c.3445A>G (p.Lys1149Glu) c.3526A>G (p.Lys1176Glu) n.1019A>G c.3544A>G (p.Lys1182Glu) n.3917A>G n.644A>G c.2713A>G (p.Lys905Glu) c.2488A>G (p.Lys830Glu) c.3583A>G (p.Lys1195Glu) c.1556A>G c.*879A>G (n.*879A>G) n.4522A>G n.3123A>G c.3634A>G (p.Lys1212Glu) c.3682A>G (p.Lys1228Glu) c.3742A>G (p.Lys1248Glu) c.3292A>G (p.Lys1098Glu) c.1594A>G (p.Lys532Glu) c.1411A>G (p.Lys471Glu) c.3643A>G (p.Lys1215Glu) c.3595A>G (p.Lys1199Glu) c.3364A>G (p.Lys1122Glu) c.3265A>G (p.Lys1089Glu) c.2446A>G (p.Lys816Glu) n.3997A>G | |
13 | g.51937601T>G | CA388022137 | ATP7B | c.*1428A>C (n.*1428A>C) c.*2522A>C (n.*2522A>C) c.3157A>C (p.Lys1053Gln) c.3778A>C (p.Lys1260Gln) c.3445A>C (p.Lys1149Gln) c.3526A>C (p.Lys1176Gln) n.1019A>C c.3544A>C (p.Lys1182Gln) n.3917A>C n.644A>C c.2713A>C (p.Lys905Gln) c.2488A>C (p.Lys830Gln) c.3583A>C (p.Lys1195Gln) c.1556A>C c.*879A>C (n.*879A>C) n.4522A>C n.3123A>C c.3634A>C (p.Lys1212Gln) c.3682A>C (p.Lys1228Gln) c.3742A>C (p.Lys1248Gln) c.3292A>C (p.Lys1098Gln) c.1594A>C (p.Lys532Gln) c.1411A>C (p.Lys471Gln) c.3643A>C (p.Lys1215Gln) c.3595A>C (p.Lys1199Gln) c.3364A>C (p.Lys1122Gln) c.3265A>C (p.Lys1089Gln) c.2446A>C (p.Lys816Gln) n.3997A>C | |
13 | g.51937602C>A | CA484024350 | ATP7B | c.*1427G>T (n.*1427G>T) c.*2521G>T (n.*2521G>T) c.3156G>T (p.Gly1052=) c.3777G>T (p.Gly1259=) c.3444G>T (p.Gly1148=) c.3525G>T (p.Gly1175=) n.1018G>T c.3543G>T (p.Gly1181=) n.3916G>T n.643G>T c.2712G>T (p.Gly904=) c.2487G>T (p.Gly829=) c.3582G>T (p.Gly1194=) c.1555G>T c.*878G>T (n.*878G>T) n.4521G>T n.3122G>T c.3633G>T (p.Gly1211=) c.3681G>T (p.Gly1227=) c.3741G>T (p.Gly1247=) c.3291G>T (p.Gly1097=) c.1593G>T (p.Gly531=) c.1410G>T (p.Gly470=) c.3642G>T (p.Gly1214=) c.3594G>T (p.Gly1198=) c.3363G>T (p.Gly1121=) c.3264G>T (p.Gly1088=) c.2445G>T (p.Gly815=) n.3996G>T | |
13 | g.51937602C>G | CA484024351 | ATP7B | c.*1427G>C (n.*1427G>C) c.*2521G>C (n.*2521G>C) c.3156G>C (p.Gly1052=) c.3777G>C (p.Gly1259=) c.3444G>C (p.Gly1148=) c.3525G>C (p.Gly1175=) n.1018G>C c.3543G>C (p.Gly1181=) n.3916G>C n.643G>C c.2712G>C (p.Gly904=) c.2487G>C (p.Gly829=) c.3582G>C (p.Gly1194=) c.1555G>C c.*878G>C (n.*878G>C) n.4521G>C n.3122G>C c.3633G>C (p.Gly1211=) c.3681G>C (p.Gly1227=) c.3741G>C (p.Gly1247=) c.3291G>C (p.Gly1097=) c.1593G>C (p.Gly531=) c.1410G>C (p.Gly470=) c.3642G>C (p.Gly1214=) c.3594G>C (p.Gly1198=) c.3363G>C (p.Gly1121=) c.3264G>C (p.Gly1088=) c.2445G>C (p.Gly815=) n.3996G>C | |
13 | g.51937602C>T | CA484024352 | ATP7B | c.*1427G>A (n.*1427G>A) c.*2521G>A (n.*2521G>A) c.3156G>A (p.Gly1052=) c.3777G>A (p.Gly1259=) c.3444G>A (p.Gly1148=) c.3525G>A (p.Gly1175=) n.1018G>A c.3543G>A (p.Gly1181=) n.3916G>A n.643G>A c.2712G>A (p.Gly904=) c.2487G>A (p.Gly829=) c.3582G>A (p.Gly1194=) c.1555G>A c.*878G>A (n.*878G>A) n.4521G>A n.3122G>A c.3633G>A (p.Gly1211=) c.3681G>A (p.Gly1227=) c.3741G>A (p.Gly1247=) c.3291G>A (p.Gly1097=) c.1593G>A (p.Gly531=) c.1410G>A (p.Gly470=) c.3642G>A (p.Gly1214=) c.3594G>A (p.Gly1198=) c.3363G>A (p.Gly1121=) c.3264G>A (p.Gly1088=) c.2445G>A (p.Gly815=) n.3996G>A |