UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51939091G>A | CA260145 | ATP7B | c.*1309C>T (n.*1309C>T) c.*2403C>T (n.*2403C>T) c.3038C>T (p.Thr1013Met) c.3659C>T (p.Thr1220Met) c.3326C>T (p.Thr1109Met) c.3407C>T (p.Thr1136Met) n.900C>T c.3425C>T (p.Thr1142Met) n.3798C>T n.525C>T c.2594C>T (p.Thr865Met) c.2369C>T (p.Thr790Met) c.3464C>T (p.Thr1155Met) c.1437C>T c.*760C>T (n.*760C>T) n.4403C>T n.3004C>T c.3515C>T (p.Thr1172Met) c.3563C>T (p.Thr1188Met) c.3623C>T (p.Thr1208Met) c.3173C>T (p.Thr1058Met) c.1475C>T (p.Thr492Met) c.1292C>T (p.Thr431Met) c.3524C>T (p.Thr1175Met) c.3476C>T (p.Thr1159Met) c.3245C>T (p.Thr1082Met) c.3146C>T (p.Thr1049Met) c.2327C>T (p.Thr776Met) n.3878C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51939091G>C | CA388023844 | ATP7B | c.*1309C>G (n.*1309C>G) c.*2403C>G (n.*2403C>G) c.3038C>G (p.Thr1013Arg) c.3659C>G (p.Thr1220Arg) c.3326C>G (p.Thr1109Arg) c.3407C>G (p.Thr1136Arg) n.900C>G c.3425C>G (p.Thr1142Arg) n.3798C>G n.525C>G c.2594C>G (p.Thr865Arg) c.2369C>G (p.Thr790Arg) c.3464C>G (p.Thr1155Arg) c.1437C>G c.*760C>G (n.*760C>G) n.4403C>G n.3004C>G c.3515C>G (p.Thr1172Arg) c.3563C>G (p.Thr1188Arg) c.3623C>G (p.Thr1208Arg) c.3173C>G (p.Thr1058Arg) c.1475C>G (p.Thr492Arg) c.1292C>G (p.Thr431Arg) c.3524C>G (p.Thr1175Arg) c.3476C>G (p.Thr1159Arg) c.3245C>G (p.Thr1082Arg) c.3146C>G (p.Thr1049Arg) c.2327C>G (p.Thr776Arg) n.3878C>G | |
| 13 | g.51939091G= | CA2091556734 | ATP7B | c.*1309C= (n.*1309C=) c.*2403C= (n.*2403C=) c.3038C= (p.Thr1013=) c.3659C= (p.Thr1220=) c.3326C= (p.Thr1109=) c.3407C= (p.Thr1136=) n.900C= c.3425C= (p.Thr1142=) n.3798C= n.525C= c.2594C= (p.Thr865=) c.2369C= (p.Thr790=) c.3464C= (p.Thr1155=) c.1437C= c.*760C= (n.*760C=) n.4403C= n.3004C= c.3515C= (p.Thr1172=) c.3563C= (p.Thr1188=) c.3623C= (p.Thr1208=) c.3173C= (p.Thr1058=) c.1475C= (p.Thr492=) c.1292C= (p.Thr431=) c.3524C= (p.Thr1175=) c.3476C= (p.Thr1159=) c.3245C= (p.Thr1082=) c.3146C= (p.Thr1049=) c.2327C= (p.Thr776=) n.3878C= | |
| 13 | g.51939091G>T | CA388023848 | ATP7B | c.*1309C>A (n.*1309C>A) c.*2403C>A (n.*2403C>A) c.3038C>A (p.Thr1013Lys) c.3659C>A (p.Thr1220Lys) c.3326C>A (p.Thr1109Lys) c.3407C>A (p.Thr1136Lys) n.900C>A c.3425C>A (p.Thr1142Lys) n.3798C>A n.525C>A c.2594C>A (p.Thr865Lys) c.2369C>A (p.Thr790Lys) c.3464C>A (p.Thr1155Lys) c.1437C>A c.*760C>A (n.*760C>A) n.4403C>A n.3004C>A c.3515C>A (p.Thr1172Lys) c.3563C>A (p.Thr1188Lys) c.3623C>A (p.Thr1208Lys) c.3173C>A (p.Thr1058Lys) c.1475C>A (p.Thr492Lys) c.1292C>A (p.Thr431Lys) c.3524C>A (p.Thr1175Lys) c.3476C>A (p.Thr1159Lys) c.3245C>A (p.Thr1082Lys) c.3146C>A (p.Thr1049Lys) c.2327C>A (p.Thr776Lys) n.3878C>A | |
| 13 | g.51939092T>A | CA388023851 | ATP7B | c.*1308A>T (n.*1308A>T) c.*2402A>T (n.*2402A>T) c.3037A>T (p.Thr1013Ser) c.3658A>T (p.Thr1220Ser) c.3325A>T (p.Thr1109Ser) c.3406A>T (p.Thr1136Ser) n.899A>T c.3424A>T (p.Thr1142Ser) n.3797A>T n.524A>T c.2593A>T (p.Thr865Ser) c.2368A>T (p.Thr790Ser) c.3463A>T (p.Thr1155Ser) c.1436A>T c.*759A>T (n.*759A>T) n.4402A>T n.3003A>T c.3514A>T (p.Thr1172Ser) c.3562A>T (p.Thr1188Ser) c.3622A>T (p.Thr1208Ser) c.3172A>T (p.Thr1058Ser) c.1474A>T (p.Thr492Ser) c.1291A>T (p.Thr431Ser) c.3523A>T (p.Thr1175Ser) c.3475A>T (p.Thr1159Ser) c.3244A>T (p.Thr1082Ser) c.3145A>T (p.Thr1049Ser) c.2326A>T (p.Thr776Ser) n.3877A>T | |
| 13 | g.51939092T>C | CA388023854 | ATP7B | c.*1308A>G (n.*1308A>G) c.*2402A>G (n.*2402A>G) c.3037A>G (p.Thr1013Ala) c.3658A>G (p.Thr1220Ala) c.3325A>G (p.Thr1109Ala) c.3406A>G (p.Thr1136Ala) n.899A>G c.3424A>G (p.Thr1142Ala) n.3797A>G n.524A>G c.2593A>G (p.Thr865Ala) c.2368A>G (p.Thr790Ala) c.3463A>G (p.Thr1155Ala) c.1436A>G c.*759A>G (n.*759A>G) n.4402A>G n.3003A>G c.3514A>G (p.Thr1172Ala) c.3562A>G (p.Thr1188Ala) c.3622A>G (p.Thr1208Ala) c.3172A>G (p.Thr1058Ala) c.1474A>G (p.Thr492Ala) c.1291A>G (p.Thr431Ala) c.3523A>G (p.Thr1175Ala) c.3475A>G (p.Thr1159Ala) c.3244A>G (p.Thr1082Ala) c.3145A>G (p.Thr1049Ala) c.2326A>G (p.Thr776Ala) n.3877A>G | |
| 13 | g.51939092T>G | CA388023861 | ATP7B | c.*1308A>C (n.*1308A>C) c.*2402A>C (n.*2402A>C) c.3037A>C (p.Thr1013Pro) c.3658A>C (p.Thr1220Pro) c.3325A>C (p.Thr1109Pro) c.3406A>C (p.Thr1136Pro) n.899A>C c.3424A>C (p.Thr1142Pro) n.3797A>C n.524A>C c.2593A>C (p.Thr865Pro) c.2368A>C (p.Thr790Pro) c.3463A>C (p.Thr1155Pro) c.1436A>C c.*759A>C (n.*759A>C) n.4402A>C n.3003A>C c.3514A>C (p.Thr1172Pro) c.3562A>C (p.Thr1188Pro) c.3622A>C (p.Thr1208Pro) c.3172A>C (p.Thr1058Pro) c.1474A>C (p.Thr492Pro) c.1291A>C (p.Thr431Pro) c.3523A>C (p.Thr1175Pro) c.3475A>C (p.Thr1159Pro) c.3244A>C (p.Thr1082Pro) c.3145A>C (p.Thr1049Pro) c.2326A>C (p.Thr776Pro) n.3877A>C | |
| 13 | g.51939093G>A | CA483893714 | ATP7B | c.*1307C>T (n.*1307C>T) c.*2401C>T (n.*2401C>T) c.3036C>T (p.Ile1012=) c.3657C>T (p.Ile1219=) c.3324C>T (p.Ile1108=) c.3405C>T (p.Ile1135=) n.898C>T c.3423C>T (p.Ile1141=) n.3796C>T n.523C>T c.2592C>T (p.Ile864=) c.2367C>T (p.Ile789=) c.3462C>T (p.Ile1154=) c.1435C>T c.*758C>T (n.*758C>T) n.4401C>T n.3002C>T c.3513C>T (p.Ile1171=) c.3561C>T (p.Ile1187=) c.3621C>T (p.Ile1207=) c.3171C>T (p.Ile1057=) c.1473C>T (p.Ile491=) c.1290C>T (p.Ile430=) c.3522C>T (p.Ile1174=) c.3474C>T (p.Ile1158=) c.3243C>T (p.Ile1081=) c.3144C>T (p.Ile1048=) c.2325C>T (p.Ile775=) n.3876C>T | gnomAD v4 |
| 13 | g.51939093G>C | CA388023863 | ATP7B | c.*1307C>G (n.*1307C>G) c.*2401C>G (n.*2401C>G) c.3036C>G (p.Ile1012Met) c.3657C>G (p.Ile1219Met) c.3324C>G (p.Ile1108Met) c.3405C>G (p.Ile1135Met) n.898C>G c.3423C>G (p.Ile1141Met) n.3796C>G n.523C>G c.2592C>G (p.Ile864Met) c.2367C>G (p.Ile789Met) c.3462C>G (p.Ile1154Met) c.1435C>G c.*758C>G (n.*758C>G) n.4401C>G n.3002C>G c.3513C>G (p.Ile1171Met) c.3561C>G (p.Ile1187Met) c.3621C>G (p.Ile1207Met) c.3171C>G (p.Ile1057Met) c.1473C>G (p.Ile491Met) c.1290C>G (p.Ile430Met) c.3522C>G (p.Ile1174Met) c.3474C>G (p.Ile1158Met) c.3243C>G (p.Ile1081Met) c.3144C>G (p.Ile1048Met) c.2325C>G (p.Ile775Met) n.3876C>G | |
| 13 | g.51939093G>T | CA483893718 | ATP7B | c.*1307C>A (n.*1307C>A) c.*2401C>A (n.*2401C>A) c.3036C>A (p.Ile1012=) c.3657C>A (p.Ile1219=) c.3324C>A (p.Ile1108=) c.3405C>A (p.Ile1135=) n.898C>A c.3423C>A (p.Ile1141=) n.3796C>A n.523C>A c.2592C>A (p.Ile864=) c.2367C>A (p.Ile789=) c.3462C>A (p.Ile1154=) c.1435C>A c.*758C>A (n.*758C>A) n.4401C>A n.3002C>A c.3513C>A (p.Ile1171=) c.3561C>A (p.Ile1187=) c.3621C>A (p.Ile1207=) c.3171C>A (p.Ile1057=) c.1473C>A (p.Ile491=) c.1290C>A (p.Ile430=) c.3522C>A (p.Ile1174=) c.3474C>A (p.Ile1158=) c.3243C>A (p.Ile1081=) c.3144C>A (p.Ile1048=) c.2325C>A (p.Ile775=) n.3876C>A | |
| 13 | g.51939094A= | CA2091556740 | ATP7B | c.*1306T= (n.*1306T=) c.*2400T= (n.*2400T=) c.3035T= (p.Ile1012=) c.3656T= (p.Ile1219=) c.3323T= (p.Ile1108=) c.3404T= (p.Ile1135=) n.897T= c.3422T= (p.Ile1141=) n.3795T= n.522T= c.2591T= (p.Ile864=) c.2366T= (p.Ile789=) c.3461T= (p.Ile1154=) c.1434T= c.*757T= (n.*757T=) n.4400T= n.3001T= c.3512T= (p.Ile1171=) c.3560T= (p.Ile1187=) c.3620T= (p.Ile1207=) c.3170T= (p.Ile1057=) c.1472T= (p.Ile491=) c.1289T= (p.Ile430=) c.3521T= (p.Ile1174=) c.3473T= (p.Ile1158=) c.3242T= (p.Ile1081=) c.3143T= (p.Ile1048=) c.2324T= (p.Ile775=) n.3875T= | |
| 13 | g.51939094A>C | CA388023873 | ATP7B | c.*1306T>G (n.*1306T>G) c.*2400T>G (n.*2400T>G) c.3035T>G (p.Ile1012Ser) c.3656T>G (p.Ile1219Ser) c.3323T>G (p.Ile1108Ser) c.3404T>G (p.Ile1135Ser) n.897T>G c.3422T>G (p.Ile1141Ser) n.3795T>G n.522T>G c.2591T>G (p.Ile864Ser) c.2366T>G (p.Ile789Ser) c.3461T>G (p.Ile1154Ser) c.1434T>G c.*757T>G (n.*757T>G) n.4400T>G n.3001T>G c.3512T>G (p.Ile1171Ser) c.3560T>G (p.Ile1187Ser) c.3620T>G (p.Ile1207Ser) c.3170T>G (p.Ile1057Ser) c.1472T>G (p.Ile491Ser) c.1289T>G (p.Ile430Ser) c.3521T>G (p.Ile1174Ser) c.3473T>G (p.Ile1158Ser) c.3242T>G (p.Ile1081Ser) c.3143T>G (p.Ile1048Ser) c.2324T>G (p.Ile775Ser) n.3875T>G | |
| 13 | g.51939094A>G | CA388023867 | ATP7B | c.*1306T>C (n.*1306T>C) c.*2400T>C (n.*2400T>C) c.3035T>C (p.Ile1012Thr) c.3656T>C (p.Ile1219Thr) c.3323T>C (p.Ile1108Thr) c.3404T>C (p.Ile1135Thr) n.897T>C c.3422T>C (p.Ile1141Thr) n.3795T>C n.522T>C c.2591T>C (p.Ile864Thr) c.2366T>C (p.Ile789Thr) c.3461T>C (p.Ile1154Thr) c.1434T>C c.*757T>C (n.*757T>C) n.4400T>C n.3001T>C c.3512T>C (p.Ile1171Thr) c.3560T>C (p.Ile1187Thr) c.3620T>C (p.Ile1207Thr) c.3170T>C (p.Ile1057Thr) c.1472T>C (p.Ile491Thr) c.1289T>C (p.Ile430Thr) c.3521T>C (p.Ile1174Thr) c.3473T>C (p.Ile1158Thr) c.3242T>C (p.Ile1081Thr) c.3143T>C (p.Ile1048Thr) c.2324T>C (p.Ile775Thr) n.3875T>C | |
| 13 | g.51939094A>T | CA388023869 | ATP7B | c.*1306T>A (n.*1306T>A) c.*2400T>A (n.*2400T>A) c.3035T>A (p.Ile1012Asn) c.3656T>A (p.Ile1219Asn) c.3323T>A (p.Ile1108Asn) c.3404T>A (p.Ile1135Asn) n.897T>A c.3422T>A (p.Ile1141Asn) n.3795T>A n.522T>A c.2591T>A (p.Ile864Asn) c.2366T>A (p.Ile789Asn) c.3461T>A (p.Ile1154Asn) c.1434T>A c.*757T>A (n.*757T>A) n.4400T>A n.3001T>A c.3512T>A (p.Ile1171Asn) c.3560T>A (p.Ile1187Asn) c.3620T>A (p.Ile1207Asn) c.3170T>A (p.Ile1057Asn) c.1472T>A (p.Ile491Asn) c.1289T>A (p.Ile430Asn) c.3521T>A (p.Ile1174Asn) c.3473T>A (p.Ile1158Asn) c.3242T>A (p.Ile1081Asn) c.3143T>A (p.Ile1048Asn) c.2324T>A (p.Ile775Asn) n.3875T>A | dbSNP |
| 13 | g.51939095T>A | CA388023878 | ATP7B | c.*1305A>T (n.*1305A>T) c.*2399A>T (n.*2399A>T) c.3034A>T (p.Ile1012Phe) c.3655A>T (p.Ile1219Phe) c.3322A>T (p.Ile1108Phe) c.3403A>T (p.Ile1135Phe) n.896A>T c.3421A>T (p.Ile1141Phe) n.3794A>T n.521A>T c.2590A>T (p.Ile864Phe) c.2365A>T (p.Ile789Phe) c.3460A>T (p.Ile1154Phe) c.1433A>T c.*756A>T (n.*756A>T) n.4399A>T n.3000A>T c.3511A>T (p.Ile1171Phe) c.3559A>T (p.Ile1187Phe) c.3619A>T (p.Ile1207Phe) c.3169A>T (p.Ile1057Phe) c.1471A>T (p.Ile491Phe) c.1288A>T (p.Ile430Phe) c.3520A>T (p.Ile1174Phe) c.3472A>T (p.Ile1158Phe) c.3241A>T (p.Ile1081Phe) c.3142A>T (p.Ile1048Phe) c.2323A>T (p.Ile775Phe) n.3874A>T | |
| 13 | g.51939095T>C | CA388023879 | ATP7B | c.*1305A>G (n.*1305A>G) c.*2399A>G (n.*2399A>G) c.3034A>G (p.Ile1012Val) c.3655A>G (p.Ile1219Val) c.3322A>G (p.Ile1108Val) c.3403A>G (p.Ile1135Val) n.896A>G c.3421A>G (p.Ile1141Val) n.3794A>G n.521A>G c.2590A>G (p.Ile864Val) c.2365A>G (p.Ile789Val) c.3460A>G (p.Ile1154Val) c.1433A>G c.*756A>G (n.*756A>G) n.4399A>G n.3000A>G c.3511A>G (p.Ile1171Val) c.3559A>G (p.Ile1187Val) c.3619A>G (p.Ile1207Val) c.3169A>G (p.Ile1057Val) c.1471A>G (p.Ile491Val) c.1288A>G (p.Ile430Val) c.3520A>G (p.Ile1174Val) c.3472A>G (p.Ile1158Val) c.3241A>G (p.Ile1081Val) c.3142A>G (p.Ile1048Val) c.2323A>G (p.Ile775Val) n.3874A>G | |
| 13 | g.51939095T>G | CA388023886 | ATP7B | c.*1305A>C (n.*1305A>C) c.*2399A>C (n.*2399A>C) c.3034A>C (p.Ile1012Leu) c.3655A>C (p.Ile1219Leu) c.3322A>C (p.Ile1108Leu) c.3403A>C (p.Ile1135Leu) n.896A>C c.3421A>C (p.Ile1141Leu) n.3794A>C n.521A>C c.2590A>C (p.Ile864Leu) c.2365A>C (p.Ile789Leu) c.3460A>C (p.Ile1154Leu) c.1433A>C c.*756A>C (n.*756A>C) n.4399A>C n.3000A>C c.3511A>C (p.Ile1171Leu) c.3559A>C (p.Ile1187Leu) c.3619A>C (p.Ile1207Leu) c.3169A>C (p.Ile1057Leu) c.1471A>C (p.Ile491Leu) c.1288A>C (p.Ile430Leu) c.3520A>C (p.Ile1174Leu) c.3472A>C (p.Ile1158Leu) c.3241A>C (p.Ile1081Leu) c.3142A>C (p.Ile1048Leu) c.2323A>C (p.Ile775Leu) n.3874A>C | |
| 13 | g.51939095_51939101delinsTCAGAAC | CA2091556745 | ATP7B | c.*1299_*1305delinsGTTCTGA (n.*1299_*1305delinsGTTCTGA) c.*2393_*2399delinsGTTCTGA (n.*2393_*2399delinsGTTCTGA) c.3028_3034delinsGTTCTGA (p.Val1010=) c.3649_3655delinsGTTCTGA (p.Val1217=) c.3316_3322delinsGTTCTGA (p.Val1106=) c.3397_3403delinsGTTCTGA (p.Val1133=) n.890_896delinsGTTCTGA c.3415_3421delinsGTTCTGA (p.Val1139=) n.3788_3794delinsGTTCTGA n.515_521delinsGTTCTGA c.2584_2590delinsGTTCTGA (p.Val862=) c.2359_2365delinsGTTCTGA (p.Val787=) c.3454_3460delinsGTTCTGA (p.Val1152=) c.1427_1433delinsGTTCTGA c.*750_*756delinsGTTCTGA (n.*750_*756delinsGTTCTGA) n.4393_4399delinsGTTCTGA n.2994_3000delinsGTTCTGA c.3505_3511delinsGTTCTGA (p.Val1169=) c.3553_3559delinsGTTCTGA (p.Val1185=) c.3613_3619delinsGTTCTGA (p.Val1205=) c.3163_3169delinsGTTCTGA (p.Val1055=) c.1465_1471delinsGTTCTGA (p.Val489=) c.1282_1288delinsGTTCTGA (p.Val428=) c.3514_3520delinsGTTCTGA (p.Val1172=) c.3466_3472delinsGTTCTGA (p.Val1156=) c.3235_3241delinsGTTCTGA (p.Val1079=) c.3136_3142delinsGTTCTGA (p.Val1046=) c.2317_2323delinsGTTCTGA (p.Val773=) n.3868_3874delinsGTTCTGA | |
| 13 | g.51939096C>A | CA483893724 | ATP7B | c.*1304G>T (n.*1304G>T) c.*2398G>T (n.*2398G>T) c.3033G>T (p.Leu1011=) c.3654G>T (p.Leu1218=) c.3321G>T (p.Leu1107=) c.3402G>T (p.Leu1134=) n.895G>T c.3420G>T (p.Leu1140=) n.3793G>T n.520G>T c.2589G>T (p.Leu863=) c.2364G>T (p.Leu788=) c.3459G>T (p.Leu1153=) c.1432G>T c.*755G>T (n.*755G>T) n.4398G>T n.2999G>T c.3510G>T (p.Leu1170=) c.3558G>T (p.Leu1186=) c.3618G>T (p.Leu1206=) c.3168G>T (p.Leu1056=) c.1470G>T (p.Leu490=) c.1287G>T (p.Leu429=) c.3519G>T (p.Leu1173=) c.3471G>T (p.Leu1157=) c.3240G>T (p.Leu1080=) c.3141G>T (p.Leu1047=) c.2322G>T (p.Leu774=) n.3873G>T | |
| 13 | g.51939096C>G | CA483893726 | ATP7B | c.*1304G>C (n.*1304G>C) c.*2398G>C (n.*2398G>C) c.3033G>C (p.Leu1011=) c.3654G>C (p.Leu1218=) c.3321G>C (p.Leu1107=) c.3402G>C (p.Leu1134=) n.895G>C c.3420G>C (p.Leu1140=) n.3793G>C n.520G>C c.2589G>C (p.Leu863=) c.2364G>C (p.Leu788=) c.3459G>C (p.Leu1153=) c.1432G>C c.*755G>C (n.*755G>C) n.4398G>C n.2999G>C c.3510G>C (p.Leu1170=) c.3558G>C (p.Leu1186=) c.3618G>C (p.Leu1206=) c.3168G>C (p.Leu1056=) c.1470G>C (p.Leu490=) c.1287G>C (p.Leu429=) c.3519G>C (p.Leu1173=) c.3471G>C (p.Leu1157=) c.3240G>C (p.Leu1080=) c.3141G>C (p.Leu1047=) c.2322G>C (p.Leu774=) n.3873G>C | |
| 13 | g.51939096C>T | CA483893728 | ATP7B | c.*1304G>A (n.*1304G>A) c.*2398G>A (n.*2398G>A) c.3033G>A (p.Leu1011=) c.3654G>A (p.Leu1218=) c.3321G>A (p.Leu1107=) c.3402G>A (p.Leu1134=) n.895G>A c.3420G>A (p.Leu1140=) n.3793G>A n.520G>A c.2589G>A (p.Leu863=) c.2364G>A (p.Leu788=) c.3459G>A (p.Leu1153=) c.1432G>A c.*755G>A (n.*755G>A) n.4398G>A n.2999G>A c.3510G>A (p.Leu1170=) c.3558G>A (p.Leu1186=) c.3618G>A (p.Leu1206=) c.3168G>A (p.Leu1056=) c.1470G>A (p.Leu490=) c.1287G>A (p.Leu429=) c.3519G>A (p.Leu1173=) c.3471G>A (p.Leu1157=) c.3240G>A (p.Leu1080=) c.3141G>A (p.Leu1047=) c.2322G>A (p.Leu774=) n.3873G>A | ClinVar dbSNP |
| 13 | g.51939098_51939103del | CA274259 | ATP7B | c.*1299_*1304del (n.*1299_*1304del) c.*2393_*2398del (n.*2393_*2398del) c.3028_3033del (p.Val1010_Leu1011del) c.3649_3654del (p.Val1217_Leu1218del) c.3316_3321del (p.Val1106_Leu1107del) c.3397_3402del (p.Val1133_Leu1134del) n.890_895del c.3415_3420del (p.Val1139_Leu1140del) n.3788_3793del n.515_520del c.2584_2589del (p.Val862_Leu863del) c.2359_2364del (p.Val787_Leu788del) c.3454_3459del (p.Val1152_Leu1153del) c.1427_1432del c.*750_*755del (n.*750_*755del) n.4393_4398del n.2994_2999del c.3505_3510del (p.Val1169_Leu1170del) c.3553_3558del (p.Val1185_Leu1186del) c.3613_3618del (p.Val1205_Leu1206del) c.3163_3168del (p.Val1055_Leu1056del) c.1465_1470del (p.Val489_Leu490del) c.1282_1287del (p.Val428_Leu429del) c.3514_3519del (p.Val1172_Leu1173del) c.3466_3471del (p.Val1156_Leu1157del) c.3235_3240del (p.Val1079_Leu1080del) c.3136_3141del (p.Val1046_Leu1047del) c.2317_2322del (p.Val773_Leu774del) n.3868_3873del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51939097A>C | CA388023893 | ATP7B | c.*1303T>G (n.*1303T>G) c.*2397T>G (n.*2397T>G) c.3032T>G (p.Leu1011Arg) c.3653T>G (p.Leu1218Arg) c.3320T>G (p.Leu1107Arg) c.3401T>G (p.Leu1134Arg) n.894T>G c.3419T>G (p.Leu1140Arg) n.3792T>G n.519T>G c.2588T>G (p.Leu863Arg) c.2363T>G (p.Leu788Arg) c.3458T>G (p.Leu1153Arg) c.1431T>G c.*754T>G (n.*754T>G) n.4397T>G n.2998T>G c.3509T>G (p.Leu1170Arg) c.3557T>G (p.Leu1186Arg) c.3617T>G (p.Leu1206Arg) c.3167T>G (p.Leu1056Arg) c.1469T>G (p.Leu490Arg) c.1286T>G (p.Leu429Arg) c.3518T>G (p.Leu1173Arg) c.3470T>G (p.Leu1157Arg) c.3239T>G (p.Leu1080Arg) c.3140T>G (p.Leu1047Arg) c.2321T>G (p.Leu774Arg) n.3872T>G | |
| 13 | g.51939097A>G | CA388023898 | ATP7B | c.*1303T>C (n.*1303T>C) c.*2397T>C (n.*2397T>C) c.3032T>C (p.Leu1011Pro) c.3653T>C (p.Leu1218Pro) c.3320T>C (p.Leu1107Pro) c.3401T>C (p.Leu1134Pro) n.894T>C c.3419T>C (p.Leu1140Pro) n.3792T>C n.519T>C c.2588T>C (p.Leu863Pro) c.2363T>C (p.Leu788Pro) c.3458T>C (p.Leu1153Pro) c.1431T>C c.*754T>C (n.*754T>C) n.4397T>C n.2998T>C c.3509T>C (p.Leu1170Pro) c.3557T>C (p.Leu1186Pro) c.3617T>C (p.Leu1206Pro) c.3167T>C (p.Leu1056Pro) c.1469T>C (p.Leu490Pro) c.1286T>C (p.Leu429Pro) c.3518T>C (p.Leu1173Pro) c.3470T>C (p.Leu1157Pro) c.3239T>C (p.Leu1080Pro) c.3140T>C (p.Leu1047Pro) c.2321T>C (p.Leu774Pro) n.3872T>C | |
| 13 | g.51939097A>T | CA388023906 | ATP7B | c.*1303T>A (n.*1303T>A) c.*2397T>A (n.*2397T>A) c.3032T>A (p.Leu1011Gln) c.3653T>A (p.Leu1218Gln) c.3320T>A (p.Leu1107Gln) c.3401T>A (p.Leu1134Gln) n.894T>A c.3419T>A (p.Leu1140Gln) n.3792T>A n.519T>A c.2588T>A (p.Leu863Gln) c.2363T>A (p.Leu788Gln) c.3458T>A (p.Leu1153Gln) c.1431T>A c.*754T>A (n.*754T>A) n.4397T>A n.2998T>A c.3509T>A (p.Leu1170Gln) c.3557T>A (p.Leu1186Gln) c.3617T>A (p.Leu1206Gln) c.3167T>A (p.Leu1056Gln) c.1469T>A (p.Leu490Gln) c.1286T>A (p.Leu429Gln) c.3518T>A (p.Leu1173Gln) c.3470T>A (p.Leu1157Gln) c.3239T>A (p.Leu1080Gln) c.3140T>A (p.Leu1047Gln) c.2321T>A (p.Leu774Gln) n.3872T>A | |
| 13 | g.51939098G>A | CA250075079 | ATP7B | c.*1302C>T (n.*1302C>T) c.*2396C>T (n.*2396C>T) c.3031C>T (p.Leu1011=) c.3652C>T (p.Leu1218=) c.3319C>T (p.Leu1107=) c.3400C>T (p.Leu1134=) n.893C>T c.3418C>T (p.Leu1140=) n.3791C>T n.518C>T c.2587C>T (p.Leu863=) c.2362C>T (p.Leu788=) c.3457C>T (p.Leu1153=) c.1430C>T c.*753C>T (n.*753C>T) n.4396C>T n.2997C>T c.3508C>T (p.Leu1170=) c.3556C>T (p.Leu1186=) c.3616C>T (p.Leu1206=) c.3166C>T (p.Leu1056=) c.1468C>T (p.Leu490=) c.1285C>T (p.Leu429=) c.3517C>T (p.Leu1173=) c.3469C>T (p.Leu1157=) c.3238C>T (p.Leu1080=) c.3139C>T (p.Leu1047=) c.2320C>T (p.Leu774=) n.3871C>T | dbSNP gnomAD v4 |
| 13 | g.51939098G>C | CA388023907 | ATP7B | c.*1302C>G (n.*1302C>G) c.*2396C>G (n.*2396C>G) c.3031C>G (p.Leu1011Val) c.3652C>G (p.Leu1218Val) c.3319C>G (p.Leu1107Val) c.3400C>G (p.Leu1134Val) n.893C>G c.3418C>G (p.Leu1140Val) n.3791C>G n.518C>G c.2587C>G (p.Leu863Val) c.2362C>G (p.Leu788Val) c.3457C>G (p.Leu1153Val) c.1430C>G c.*753C>G (n.*753C>G) n.4396C>G n.2997C>G c.3508C>G (p.Leu1170Val) c.3556C>G (p.Leu1186Val) c.3616C>G (p.Leu1206Val) c.3166C>G (p.Leu1056Val) c.1468C>G (p.Leu490Val) c.1285C>G (p.Leu429Val) c.3517C>G (p.Leu1173Val) c.3469C>G (p.Leu1157Val) c.3238C>G (p.Leu1080Val) c.3139C>G (p.Leu1047Val) c.2320C>G (p.Leu774Val) n.3871C>G | COSMIC |
| 13 | g.51939098G= | CA2091556758 | ATP7B | c.*1302C= (n.*1302C=) c.*2396C= (n.*2396C=) c.3031C= (p.Leu1011=) c.3652C= (p.Leu1218=) c.3319C= (p.Leu1107=) c.3400C= (p.Leu1134=) n.893C= c.3418C= (p.Leu1140=) n.3791C= n.518C= c.2587C= (p.Leu863=) c.2362C= (p.Leu788=) c.3457C= (p.Leu1153=) c.1430C= c.*753C= (n.*753C=) n.4396C= n.2997C= c.3508C= (p.Leu1170=) c.3556C= (p.Leu1186=) c.3616C= (p.Leu1206=) c.3166C= (p.Leu1056=) c.1468C= (p.Leu490=) c.1285C= (p.Leu429=) c.3517C= (p.Leu1173=) c.3469C= (p.Leu1157=) c.3238C= (p.Leu1080=) c.3139C= (p.Leu1047=) c.2320C= (p.Leu774=) n.3871C= | |
| 13 | g.51939098G>T | CA388023908 | ATP7B | c.*1302C>A (n.*1302C>A) c.*2396C>A (n.*2396C>A) c.3031C>A (p.Leu1011Met) c.3652C>A (p.Leu1218Met) c.3319C>A (p.Leu1107Met) c.3400C>A (p.Leu1134Met) n.893C>A c.3418C>A (p.Leu1140Met) n.3791C>A n.518C>A c.2587C>A (p.Leu863Met) c.2362C>A (p.Leu788Met) c.3457C>A (p.Leu1153Met) c.1430C>A c.*753C>A (n.*753C>A) n.4396C>A n.2997C>A c.3508C>A (p.Leu1170Met) c.3556C>A (p.Leu1186Met) c.3616C>A (p.Leu1206Met) c.3166C>A (p.Leu1056Met) c.1468C>A (p.Leu490Met) c.1285C>A (p.Leu429Met) c.3517C>A (p.Leu1173Met) c.3469C>A (p.Leu1157Met) c.3238C>A (p.Leu1080Met) c.3139C>A (p.Leu1047Met) c.2320C>A (p.Leu774Met) n.3871C>A | |
| 13 | g.51939099A>C | CA483893741 | ATP7B | c.*1301T>G (n.*1301T>G) c.*2395T>G (n.*2395T>G) c.3030T>G (p.Val1010=) c.3651T>G (p.Val1217=) c.3318T>G (p.Val1106=) c.3399T>G (p.Val1133=) n.892T>G c.3417T>G (p.Val1139=) n.3790T>G n.517T>G c.2586T>G (p.Val862=) c.2361T>G (p.Val787=) c.3456T>G (p.Val1152=) c.1429T>G c.*752T>G (n.*752T>G) n.4395T>G n.2996T>G c.3507T>G (p.Val1169=) c.3555T>G (p.Val1185=) c.3615T>G (p.Val1205=) c.3165T>G (p.Val1055=) c.1467T>G (p.Val489=) c.1284T>G (p.Val428=) c.3516T>G (p.Val1172=) c.3468T>G (p.Val1156=) c.3237T>G (p.Val1079=) c.3138T>G (p.Val1046=) c.2319T>G (p.Val773=) n.3870T>G | |
| 13 | g.51939099A>G | CA483893743 | ATP7B | c.*1301T>C (n.*1301T>C) c.*2395T>C (n.*2395T>C) c.3030T>C (p.Val1010=) c.3651T>C (p.Val1217=) c.3318T>C (p.Val1106=) c.3399T>C (p.Val1133=) n.892T>C c.3417T>C (p.Val1139=) n.3790T>C n.517T>C c.2586T>C (p.Val862=) c.2361T>C (p.Val787=) c.3456T>C (p.Val1152=) c.1429T>C c.*752T>C (n.*752T>C) n.4395T>C n.2996T>C c.3507T>C (p.Val1169=) c.3555T>C (p.Val1185=) c.3615T>C (p.Val1205=) c.3165T>C (p.Val1055=) c.1467T>C (p.Val489=) c.1284T>C (p.Val428=) c.3516T>C (p.Val1172=) c.3468T>C (p.Val1156=) c.3237T>C (p.Val1079=) c.3138T>C (p.Val1046=) c.2319T>C (p.Val773=) n.3870T>C | |
| 13 | g.51939099A>T | CA483893740 | ATP7B | c.*1301T>A (n.*1301T>A) c.*2395T>A (n.*2395T>A) c.3030T>A (p.Val1010=) c.3651T>A (p.Val1217=) c.3318T>A (p.Val1106=) c.3399T>A (p.Val1133=) n.892T>A c.3417T>A (p.Val1139=) n.3790T>A n.517T>A c.2586T>A (p.Val862=) c.2361T>A (p.Val787=) c.3456T>A (p.Val1152=) c.1429T>A c.*752T>A (n.*752T>A) n.4395T>A n.2996T>A c.3507T>A (p.Val1169=) c.3555T>A (p.Val1185=) c.3615T>A (p.Val1205=) c.3165T>A (p.Val1055=) c.1467T>A (p.Val489=) c.1284T>A (p.Val428=) c.3516T>A (p.Val1172=) c.3468T>A (p.Val1156=) c.3237T>A (p.Val1079=) c.3138T>A (p.Val1046=) c.2319T>A (p.Val773=) n.3870T>A | gnomAD v4 |
| 13 | g.51939100A= | CA2091556766 | ATP7B | c.*1300T= (n.*1300T=) c.*2394T= (n.*2394T=) c.3029T= (p.Val1010=) c.3650T= (p.Val1217=) c.3317T= (p.Val1106=) c.3398T= (p.Val1133=) n.891T= c.3416T= (p.Val1139=) n.3789T= n.516T= c.2585T= (p.Val862=) c.2360T= (p.Val787=) c.3455T= (p.Val1152=) c.1428T= c.*751T= (n.*751T=) n.4394T= n.2995T= c.3506T= (p.Val1169=) c.3554T= (p.Val1185=) c.3614T= (p.Val1205=) c.3164T= (p.Val1055=) c.1466T= (p.Val489=) c.1283T= (p.Val428=) c.3515T= (p.Val1172=) c.3467T= (p.Val1156=) c.3236T= (p.Val1079=) c.3137T= (p.Val1046=) c.2318T= (p.Val773=) n.3869T= | |
| 13 | g.51939100A>C | CA388023918 | ATP7B | c.*1300T>G (n.*1300T>G) c.*2394T>G (n.*2394T>G) c.3029T>G (p.Val1010Gly) c.3650T>G (p.Val1217Gly) c.3317T>G (p.Val1106Gly) c.3398T>G (p.Val1133Gly) n.891T>G c.3416T>G (p.Val1139Gly) n.3789T>G n.516T>G c.2585T>G (p.Val862Gly) c.2360T>G (p.Val787Gly) c.3455T>G (p.Val1152Gly) c.1428T>G c.*751T>G (n.*751T>G) n.4394T>G n.2995T>G c.3506T>G (p.Val1169Gly) c.3554T>G (p.Val1185Gly) c.3614T>G (p.Val1205Gly) c.3164T>G (p.Val1055Gly) c.1466T>G (p.Val489Gly) c.1283T>G (p.Val428Gly) c.3515T>G (p.Val1172Gly) c.3467T>G (p.Val1156Gly) c.3236T>G (p.Val1079Gly) c.3137T>G (p.Val1046Gly) c.2318T>G (p.Val773Gly) n.3869T>G | |
| 13 | g.51939100A>G | CA388023913 | ATP7B | c.*1300T>C (n.*1300T>C) c.*2394T>C (n.*2394T>C) c.3029T>C (p.Val1010Ala) c.3650T>C (p.Val1217Ala) c.3317T>C (p.Val1106Ala) c.3398T>C (p.Val1133Ala) n.891T>C c.3416T>C (p.Val1139Ala) n.3789T>C n.516T>C c.2585T>C (p.Val862Ala) c.2360T>C (p.Val787Ala) c.3455T>C (p.Val1152Ala) c.1428T>C c.*751T>C (n.*751T>C) n.4394T>C n.2995T>C c.3506T>C (p.Val1169Ala) c.3554T>C (p.Val1185Ala) c.3614T>C (p.Val1205Ala) c.3164T>C (p.Val1055Ala) c.1466T>C (p.Val489Ala) c.1283T>C (p.Val428Ala) c.3515T>C (p.Val1172Ala) c.3467T>C (p.Val1156Ala) c.3236T>C (p.Val1079Ala) c.3137T>C (p.Val1046Ala) c.2318T>C (p.Val773Ala) n.3869T>C | |
| 13 | g.51939100A>T | CA388023911 | ATP7B | c.*1300T>A (n.*1300T>A) c.*2394T>A (n.*2394T>A) c.3029T>A (p.Val1010Asp) c.3650T>A (p.Val1217Asp) c.3317T>A (p.Val1106Asp) c.3398T>A (p.Val1133Asp) n.891T>A c.3416T>A (p.Val1139Asp) n.3789T>A n.516T>A c.2585T>A (p.Val862Asp) c.2360T>A (p.Val787Asp) c.3455T>A (p.Val1152Asp) c.1428T>A c.*751T>A (n.*751T>A) n.4394T>A n.2995T>A c.3506T>A (p.Val1169Asp) c.3554T>A (p.Val1185Asp) c.3614T>A (p.Val1205Asp) c.3164T>A (p.Val1055Asp) c.1466T>A (p.Val489Asp) c.1283T>A (p.Val428Asp) c.3515T>A (p.Val1172Asp) c.3467T>A (p.Val1156Asp) c.3236T>A (p.Val1079Asp) c.3137T>A (p.Val1046Asp) c.2318T>A (p.Val773Asp) n.3869T>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51939101C>A | CA388023927 | ATP7B | c.*1299G>T (n.*1299G>T) c.*2393G>T (n.*2393G>T) c.3028G>T (p.Val1010Phe) c.3649G>T (p.Val1217Phe) c.3316G>T (p.Val1106Phe) c.3397G>T (p.Val1133Phe) n.890G>T c.3415G>T (p.Val1139Phe) n.3788G>T n.515G>T c.2584G>T (p.Val862Phe) c.2359G>T (p.Val787Phe) c.3454G>T (p.Val1152Phe) c.1427G>T c.*750G>T (n.*750G>T) n.4393G>T n.2994G>T c.3505G>T (p.Val1169Phe) c.3553G>T (p.Val1185Phe) c.3613G>T (p.Val1205Phe) c.3163G>T (p.Val1055Phe) c.1465G>T (p.Val489Phe) c.1282G>T (p.Val428Phe) c.3514G>T (p.Val1172Phe) c.3466G>T (p.Val1156Phe) c.3235G>T (p.Val1079Phe) c.3136G>T (p.Val1046Phe) c.2317G>T (p.Val773Phe) n.3868G>T | |
| 13 | g.51939101C>G | CA388023935 | ATP7B | c.*1299G>C (n.*1299G>C) c.*2393G>C (n.*2393G>C) c.3028G>C (p.Val1010Leu) c.3649G>C (p.Val1217Leu) c.3316G>C (p.Val1106Leu) c.3397G>C (p.Val1133Leu) n.890G>C c.3415G>C (p.Val1139Leu) n.3788G>C n.515G>C c.2584G>C (p.Val862Leu) c.2359G>C (p.Val787Leu) c.3454G>C (p.Val1152Leu) c.1427G>C c.*750G>C (n.*750G>C) n.4393G>C n.2994G>C c.3505G>C (p.Val1169Leu) c.3553G>C (p.Val1185Leu) c.3613G>C (p.Val1205Leu) c.3163G>C (p.Val1055Leu) c.1465G>C (p.Val489Leu) c.1282G>C (p.Val428Leu) c.3514G>C (p.Val1172Leu) c.3466G>C (p.Val1156Leu) c.3235G>C (p.Val1079Leu) c.3136G>C (p.Val1046Leu) c.2317G>C (p.Val773Leu) n.3868G>C | |
| 13 | g.51939101C>T | CA388023936 | ATP7B | c.*1299G>A (n.*1299G>A) c.*2393G>A (n.*2393G>A) c.3028G>A (p.Val1010Ile) c.3649G>A (p.Val1217Ile) c.3316G>A (p.Val1106Ile) c.3397G>A (p.Val1133Ile) n.890G>A c.3415G>A (p.Val1139Ile) n.3788G>A n.515G>A c.2584G>A (p.Val862Ile) c.2359G>A (p.Val787Ile) c.3454G>A (p.Val1152Ile) c.1427G>A c.*750G>A (n.*750G>A) n.4393G>A n.2994G>A c.3505G>A (p.Val1169Ile) c.3553G>A (p.Val1185Ile) c.3613G>A (p.Val1205Ile) c.3163G>A (p.Val1055Ile) c.1465G>A (p.Val489Ile) c.1282G>A (p.Val428Ile) c.3514G>A (p.Val1172Ile) c.3466G>A (p.Val1156Ile) c.3235G>A (p.Val1079Ile) c.3136G>A (p.Val1046Ile) c.2317G>A (p.Val773Ile) n.3868G>A | |
| 13 | g.51939102del | CA2623119629 | ATP7B | c.*1299del (n.*1299del) c.*2393del (n.*2393del) c.3028del (p.Val1010PhefsTer2) c.3649del (p.Val1217PhefsTer2) c.3316del (p.Val1106PhefsTer2) c.3397del (p.Val1133PhefsTer2) n.890del c.3415del (p.Val1139PhefsTer2) n.3788del n.515del c.2584del (p.Val862PhefsTer2) c.2359del (p.Val787PhefsTer2) c.3454del (p.Val1152PhefsTer2) c.1427del c.*750del (n.*750del) n.4393del n.2994del c.3505del (p.Val1169PhefsTer2) c.3553del (p.Val1185PhefsTer2) c.3613del (p.Val1205PhefsTer2) c.3163del (p.Val1055PhefsTer2) c.1465del (p.Val489PhefsTer2) c.1282del (p.Val428PhefsTer2) c.3514del (p.Val1172PhefsTer2) c.3466del (p.Val1156PhefsTer2) c.3235del (p.Val1079PhefsTer2) c.3136del (p.Val1046PhefsTer2) c.2317del (p.Val773PhefsTer2) n.3868del | gnomAD v4 |
| 13 | g.51939102C>A | CA483893749 | ATP7B | c.*1298G>T (n.*1298G>T) c.*2392G>T (n.*2392G>T) c.3027G>T (p.Val1009=) c.3648G>T (p.Val1216=) c.3315G>T (p.Val1105=) c.3396G>T (p.Val1132=) n.889G>T c.3414G>T (p.Val1138=) n.3787G>T n.514G>T c.2583G>T (p.Val861=) c.2358G>T (p.Val786=) c.3453G>T (p.Val1151=) c.1426G>T c.*749G>T (n.*749G>T) n.4392G>T n.2993G>T c.3504G>T (p.Val1168=) c.3552G>T (p.Val1184=) c.3612G>T (p.Val1204=) c.3162G>T (p.Val1054=) c.1464G>T (p.Val488=) c.1281G>T (p.Val427=) c.3513G>T (p.Val1171=) c.3465G>T (p.Val1155=) c.3234G>T (p.Val1078=) c.3135G>T (p.Val1045=) c.2316G>T (p.Val772=) n.3867G>T | |
| 13 | g.51939102C>G | CA483893750 | ATP7B | c.*1298G>C (n.*1298G>C) c.*2392G>C (n.*2392G>C) c.3027G>C (p.Val1009=) c.3648G>C (p.Val1216=) c.3315G>C (p.Val1105=) c.3396G>C (p.Val1132=) n.889G>C c.3414G>C (p.Val1138=) n.3787G>C n.514G>C c.2583G>C (p.Val861=) c.2358G>C (p.Val786=) c.3453G>C (p.Val1151=) c.1426G>C c.*749G>C (n.*749G>C) n.4392G>C n.2993G>C c.3504G>C (p.Val1168=) c.3552G>C (p.Val1184=) c.3612G>C (p.Val1204=) c.3162G>C (p.Val1054=) c.1464G>C (p.Val488=) c.1281G>C (p.Val427=) c.3513G>C (p.Val1171=) c.3465G>C (p.Val1155=) c.3234G>C (p.Val1078=) c.3135G>C (p.Val1045=) c.2316G>C (p.Val772=) n.3867G>C | |
| 13 | g.51939102C>T | CA483893751 | ATP7B | c.*1298G>A (n.*1298G>A) c.*2392G>A (n.*2392G>A) c.3027G>A (p.Val1009=) c.3648G>A (p.Val1216=) c.3315G>A (p.Val1105=) c.3396G>A (p.Val1132=) n.889G>A c.3414G>A (p.Val1138=) n.3787G>A n.514G>A c.2583G>A (p.Val861=) c.2358G>A (p.Val786=) c.3453G>A (p.Val1151=) c.1426G>A c.*749G>A (n.*749G>A) n.4392G>A n.2993G>A c.3504G>A (p.Val1168=) c.3552G>A (p.Val1184=) c.3612G>A (p.Val1204=) c.3162G>A (p.Val1054=) c.1464G>A (p.Val488=) c.1281G>A (p.Val427=) c.3513G>A (p.Val1171=) c.3465G>A (p.Val1155=) c.3234G>A (p.Val1078=) c.3135G>A (p.Val1045=) c.2316G>A (p.Val772=) n.3867G>A | ClinVar gnomAD v4 |
| 13 | g.51939104_51939124del | CA2739277679 | ATP7B | c.*1278_*1298del (n.*1278_*1298del) c.*2372_*2392del (n.*2372_*2392del) c.3007_3027del (p.Gln1003_Val1009del) c.3628_3648del (p.Gln1210_Val1216del) c.3295_3315del (p.Gln1099_Val1105del) c.3376_3396del (p.Gln1126_Val1132del) n.869_889del c.3394_3414del (p.Gln1132_Val1138del) n.3767_3787del n.494_514del c.2563_2583del (p.Gln855_Val861del) c.2338_2358del (p.Gln780_Val786del) c.3433_3453del (p.Gln1145_Val1151del) c.1406_1426del c.*729_*749del (n.*729_*749del) n.4372_4392del n.2973_2993del c.3484_3504del (p.Gln1162_Val1168del) c.3532_3552del (p.Gln1178_Val1184del) c.3592_3612del (p.Gln1198_Val1204del) c.3142_3162del (p.Gln1048_Val1054del) c.1444_1464del (p.Gln482_Val488del) c.1261_1281del (p.Gln421_Val427del) c.3493_3513del (p.Gln1165_Val1171del) c.3445_3465del (p.Gln1149_Val1155del) c.3214_3234del (p.Gln1072_Val1078del) c.3115_3135del (p.Gln1039_Val1045del) c.2296_2316del (p.Gln766_Val772del) n.3847_3867del | ClinVar |
| 13 | g.51939103A>C | CA388023941 | ATP7B | c.*1297T>G (n.*1297T>G) c.*2391T>G (n.*2391T>G) c.3026T>G (p.Val1009Gly) c.3647T>G (p.Val1216Gly) c.3314T>G (p.Val1105Gly) c.3395T>G (p.Val1132Gly) n.888T>G c.3413T>G (p.Val1138Gly) n.3786T>G n.513T>G c.2582T>G (p.Val861Gly) c.2357T>G (p.Val786Gly) c.3452T>G (p.Val1151Gly) c.1425T>G c.*748T>G (n.*748T>G) n.4391T>G n.2992T>G c.3503T>G (p.Val1168Gly) c.3551T>G (p.Val1184Gly) c.3611T>G (p.Val1204Gly) c.3161T>G (p.Val1054Gly) c.1463T>G (p.Val488Gly) c.1280T>G (p.Val427Gly) c.3512T>G (p.Val1171Gly) c.3464T>G (p.Val1155Gly) c.3233T>G (p.Val1078Gly) c.3134T>G (p.Val1045Gly) c.2315T>G (p.Val772Gly) n.3866T>G | |
| 13 | g.51939103A>G | CA388023943 | ATP7B | c.*1297T>C (n.*1297T>C) c.*2391T>C (n.*2391T>C) c.3026T>C (p.Val1009Ala) c.3647T>C (p.Val1216Ala) c.3314T>C (p.Val1105Ala) c.3395T>C (p.Val1132Ala) n.888T>C c.3413T>C (p.Val1138Ala) n.3786T>C n.513T>C c.2582T>C (p.Val861Ala) c.2357T>C (p.Val786Ala) c.3452T>C (p.Val1151Ala) c.1425T>C c.*748T>C (n.*748T>C) n.4391T>C n.2992T>C c.3503T>C (p.Val1168Ala) c.3551T>C (p.Val1184Ala) c.3611T>C (p.Val1204Ala) c.3161T>C (p.Val1054Ala) c.1463T>C (p.Val488Ala) c.1280T>C (p.Val427Ala) c.3512T>C (p.Val1171Ala) c.3464T>C (p.Val1155Ala) c.3233T>C (p.Val1078Ala) c.3134T>C (p.Val1045Ala) c.2315T>C (p.Val772Ala) n.3866T>C | |
| 13 | g.51939103A>T | CA388023949 | ATP7B | c.*1297T>A (n.*1297T>A) c.*2391T>A (n.*2391T>A) c.3026T>A (p.Val1009Glu) c.3647T>A (p.Val1216Glu) c.3314T>A (p.Val1105Glu) c.3395T>A (p.Val1132Glu) n.888T>A c.3413T>A (p.Val1138Glu) n.3786T>A n.513T>A c.2582T>A (p.Val861Glu) c.2357T>A (p.Val786Glu) c.3452T>A (p.Val1151Glu) c.1425T>A c.*748T>A (n.*748T>A) n.4391T>A n.2992T>A c.3503T>A (p.Val1168Glu) c.3551T>A (p.Val1184Glu) c.3611T>A (p.Val1204Glu) c.3161T>A (p.Val1054Glu) c.1463T>A (p.Val488Glu) c.1280T>A (p.Val427Glu) c.3512T>A (p.Val1171Glu) c.3464T>A (p.Val1155Glu) c.3233T>A (p.Val1078Glu) c.3134T>A (p.Val1045Glu) c.2315T>A (p.Val772Glu) n.3866T>A | |
| 13 | g.51939104C>A | CA388023954 | ATP7B | c.*1296G>T (n.*1296G>T) c.*2390G>T (n.*2390G>T) c.3025G>T (p.Val1009Leu) c.3646G>T (p.Val1216Leu) c.3313G>T (p.Val1105Leu) c.3394G>T (p.Val1132Leu) n.887G>T c.3412G>T (p.Val1138Leu) n.3785G>T n.512G>T c.2581G>T (p.Val861Leu) c.2356G>T (p.Val786Leu) c.3451G>T (p.Val1151Leu) c.1424G>T c.*747G>T (n.*747G>T) n.4390G>T n.2991G>T c.3502G>T (p.Val1168Leu) c.3550G>T (p.Val1184Leu) c.3610G>T (p.Val1204Leu) c.3160G>T (p.Val1054Leu) c.1462G>T (p.Val488Leu) c.1279G>T (p.Val427Leu) c.3511G>T (p.Val1171Leu) c.3463G>T (p.Val1155Leu) c.3232G>T (p.Val1078Leu) c.3133G>T (p.Val1045Leu) c.2314G>T (p.Val772Leu) n.3865G>T | |
| 13 | g.51939104C= | CA2091556770 | ATP7B | c.*1296G= (n.*1296G=) c.*2390G= (n.*2390G=) c.3025G= (p.Val1009=) c.3646G= (p.Val1216=) c.3313G= (p.Val1105=) c.3394G= (p.Val1132=) n.887G= c.3412G= (p.Val1138=) n.3785G= n.512G= c.2581G= (p.Val861=) c.2356G= (p.Val786=) c.3451G= (p.Val1151=) c.1424G= c.*747G= (n.*747G=) n.4390G= n.2991G= c.3502G= (p.Val1168=) c.3550G= (p.Val1184=) c.3610G= (p.Val1204=) c.3160G= (p.Val1054=) c.1462G= (p.Val488=) c.1279G= (p.Val427=) c.3511G= (p.Val1171=) c.3463G= (p.Val1155=) c.3232G= (p.Val1078=) c.3133G= (p.Val1045=) c.2314G= (p.Val772=) n.3865G= | |
| 13 | g.51939104C>G | CA388023956 | ATP7B | c.*1296G>C (n.*1296G>C) c.*2390G>C (n.*2390G>C) c.3025G>C (p.Val1009Leu) c.3646G>C (p.Val1216Leu) c.3313G>C (p.Val1105Leu) c.3394G>C (p.Val1132Leu) n.887G>C c.3412G>C (p.Val1138Leu) n.3785G>C n.512G>C c.2581G>C (p.Val861Leu) c.2356G>C (p.Val786Leu) c.3451G>C (p.Val1151Leu) c.1424G>C c.*747G>C (n.*747G>C) n.4390G>C n.2991G>C c.3502G>C (p.Val1168Leu) c.3550G>C (p.Val1184Leu) c.3610G>C (p.Val1204Leu) c.3160G>C (p.Val1054Leu) c.1462G>C (p.Val488Leu) c.1279G>C (p.Val427Leu) c.3511G>C (p.Val1171Leu) c.3463G>C (p.Val1155Leu) c.3232G>C (p.Val1078Leu) c.3133G>C (p.Val1045Leu) c.2314G>C (p.Val772Leu) n.3865G>C | gnomAD v4 |