| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51946442_51946443delinsTG | CA2091566210 | ATP7B | c.*734_*735delinsCA (n.*734_*735delinsCA) c.*1645_*1646delinsCA (n.*1645_*1646delinsCA) c.2280_2281delinsCA (p.Ile760=) c.2901_2902delinsCA (p.Ile967=) c.2568_2569delinsCA (p.Ile856=) c.2649_2650delinsCA (p.Ile883=) c.2667_2668delinsCA (p.Ile889=) n.1048_1049delinsCA n.3264_3265delinsCA c.1836_1837delinsCA (p.Ile612=) c.1611_1612delinsCA (p.Ile537=) c.2866-2152_2866-2151delinsCA (n.2866-2152_2866-2151delinsCA) n.121_122delinsCA c.862_863delinsCA c.*2_*3delinsCA (n.*2_*3delinsCA) n.3645_3646delinsCA n.2246_2247delinsCA c.2757_2758delinsCA (p.Ile919=) n.247_248delinsCA c.2805_2806delinsCA (p.Ile935=) c.2865_2866delinsCA (p.Ile955=) c.2415_2416delinsCA (p.Ile805=) c.717_718delinsCA (p.Ile239=) c.2766_2767delinsCA (p.Ile922=) c.2487_2488delinsCA (p.Ile829=) c.2730+3564_2730+3565delinsCA (n.2730+3564_2730+3565delinsCA) c.1569_1570delinsCA (p.Ile523=) n.3120_3121delinsCA | |
| 13 | g.51946443del | CA16619814 | ATP7B | c.*734del (n.*734del) c.*1645del (n.*1645del) c.2280del (p.Ile761SerfsTer?) c.2901del (p.Ile968SerfsTer?) c.2568del (p.Ile857SerfsTer?) c.2649del (p.Ile884SerfsTer?) c.2667del (p.Ile890SerfsTer?) n.1048del n.3264del c.1836del (p.Ile613SerfsTer?) c.1611del (p.Ile538SerfsTer?) c.2866-2152del (n.2866-2152del) n.121del c.862del c.*2del (n.*2del) n.3645del n.2246del c.2757del (p.Ile920SerfsTer?) n.247del c.2805del (p.Ile936SerfsTer?) c.2865del (p.Ile956SerfsTer?) c.2415del (p.Ile806SerfsTer?) c.717del (p.Ile240SerfsTer?) c.2766del (p.Ile923SerfsTer?) c.2487del (p.Ile830SerfsTer?) c.2730+3564del (n.2730+3564del) c.1569del (p.Ile524SerfsTer?) n.3120del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51946443G>A | CA483895015 | ATP7B | c.*734C>T (n.*734C>T) c.*1645C>T (n.*1645C>T) c.2280C>T (p.Ile760=) c.2901C>T (p.Ile967=) c.2568C>T (p.Ile856=) c.2649C>T (p.Ile883=) c.2667C>T (p.Ile889=) n.1048C>T n.3264C>T c.1836C>T (p.Ile612=) c.1611C>T (p.Ile537=) c.2866-2152C>T (n.2866-2152C>T) n.121C>T c.862C>T c.*2C>T (n.*2C>T) n.3645C>T n.2246C>T c.2757C>T (p.Ile919=) n.247C>T c.2805C>T (p.Ile935=) c.2865C>T (p.Ile955=) c.2415C>T (p.Ile805=) c.717C>T (p.Ile239=) c.2766C>T (p.Ile922=) c.2487C>T (p.Ile829=) c.2730+3564C>T (n.2730+3564C>T) c.1569C>T (p.Ile523=) n.3120C>T | |
| 13 | g.51946443G>C | CA388032469 | ATP7B | c.*734C>G (n.*734C>G) c.*1645C>G (n.*1645C>G) c.2280C>G (p.Ile760Met) c.2901C>G (p.Ile967Met) c.2568C>G (p.Ile856Met) c.2649C>G (p.Ile883Met) c.2667C>G (p.Ile889Met) n.1048C>G n.3264C>G c.1836C>G (p.Ile612Met) c.1611C>G (p.Ile537Met) c.2866-2152C>G (n.2866-2152C>G) n.121C>G c.862C>G c.*2C>G (n.*2C>G) n.3645C>G n.2246C>G c.2757C>G (p.Ile919Met) n.247C>G c.2805C>G (p.Ile935Met) c.2865C>G (p.Ile955Met) c.2415C>G (p.Ile805Met) c.717C>G (p.Ile239Met) c.2766C>G (p.Ile922Met) c.2487C>G (p.Ile829Met) c.2730+3564C>G (n.2730+3564C>G) c.1569C>G (p.Ile523Met) n.3120C>G | |
| 13 | g.51946443G>T | CA483895016 | ATP7B | c.*734C>A (n.*734C>A) c.*1645C>A (n.*1645C>A) c.2280C>A (p.Ile760=) c.2901C>A (p.Ile967=) c.2568C>A (p.Ile856=) c.2649C>A (p.Ile883=) c.2667C>A (p.Ile889=) n.1048C>A n.3264C>A c.1836C>A (p.Ile612=) c.1611C>A (p.Ile537=) c.2866-2152C>A (n.2866-2152C>A) n.121C>A c.862C>A c.*2C>A (n.*2C>A) n.3645C>A n.2246C>A c.2757C>A (p.Ile919=) n.247C>A c.2805C>A (p.Ile935=) c.2865C>A (p.Ile955=) c.2415C>A (p.Ile805=) c.717C>A (p.Ile239=) c.2766C>A (p.Ile922=) c.2487C>A (p.Ile829=) c.2730+3564C>A (n.2730+3564C>A) c.1569C>A (p.Ile523=) n.3120C>A | |
| 13 | g.51946444A>C | CA388032471 | ATP7B | c.*733T>G (n.*733T>G) c.*1644T>G (n.*1644T>G) c.2279T>G (p.Ile760Ser) c.2900T>G (p.Ile967Ser) c.2567T>G (p.Ile856Ser) c.2648T>G (p.Ile883Ser) c.2666T>G (p.Ile889Ser) n.1047T>G n.3263T>G c.1835T>G (p.Ile612Ser) c.1610T>G (p.Ile537Ser) c.2866-2153T>G (n.2866-2153T>G) n.120T>G c.861T>G c.*1T>G (n.*1T>G) n.3644T>G n.2245T>G c.2756T>G (p.Ile919Ser) n.246T>G c.2804T>G (p.Ile935Ser) c.2864T>G (p.Ile955Ser) c.2414T>G (p.Ile805Ser) c.716T>G (p.Ile239Ser) c.2765T>G (p.Ile922Ser) c.2486T>G (p.Ile829Ser) c.2730+3563T>G (n.2730+3563T>G) c.1568T>G (p.Ile523Ser) n.3119T>G | |
| 13 | g.51946444A>G | CA388032472 | ATP7B | c.*733T>C (n.*733T>C) c.*1644T>C (n.*1644T>C) c.2279T>C (p.Ile760Thr) c.2900T>C (p.Ile967Thr) c.2567T>C (p.Ile856Thr) c.2648T>C (p.Ile883Thr) c.2666T>C (p.Ile889Thr) n.1047T>C n.3263T>C c.1835T>C (p.Ile612Thr) c.1610T>C (p.Ile537Thr) c.2866-2153T>C (n.2866-2153T>C) n.120T>C c.861T>C c.*1T>C (n.*1T>C) n.3644T>C n.2245T>C c.2756T>C (p.Ile919Thr) n.246T>C c.2804T>C (p.Ile935Thr) c.2864T>C (p.Ile955Thr) c.2414T>C (p.Ile805Thr) c.716T>C (p.Ile239Thr) c.2765T>C (p.Ile922Thr) c.2486T>C (p.Ile829Thr) c.2730+3563T>C (n.2730+3563T>C) c.1568T>C (p.Ile523Thr) n.3119T>C | |
| 13 | g.51946444A>T | CA388032474 | ATP7B | c.*733T>A (n.*733T>A) c.*1644T>A (n.*1644T>A) c.2279T>A (p.Ile760Asn) c.2900T>A (p.Ile967Asn) c.2567T>A (p.Ile856Asn) c.2648T>A (p.Ile883Asn) c.2666T>A (p.Ile889Asn) n.1047T>A n.3263T>A c.1835T>A (p.Ile612Asn) c.1610T>A (p.Ile537Asn) c.2866-2153T>A (n.2866-2153T>A) n.120T>A c.861T>A c.*1T>A (n.*1T>A) n.3644T>A n.2245T>A c.2756T>A (p.Ile919Asn) n.246T>A c.2804T>A (p.Ile935Asn) c.2864T>A (p.Ile955Asn) c.2414T>A (p.Ile805Asn) c.716T>A (p.Ile239Asn) c.2765T>A (p.Ile922Asn) c.2486T>A (p.Ile829Asn) c.2730+3563T>A (n.2730+3563T>A) c.1568T>A (p.Ile523Asn) n.3119T>A | |
| 13 | g.51946445T>A | CA250082269 | ATP7B | c.*732A>T (n.*732A>T) c.*1643A>T (n.*1643A>T) c.2278A>T (p.Ile760Phe) c.2899A>T (p.Ile967Phe) c.2566A>T (p.Ile856Phe) c.2647A>T (p.Ile883Phe) c.2665A>T (p.Ile889Phe) n.1046A>T n.3262A>T c.1834A>T (p.Ile612Phe) c.1609A>T (p.Ile537Phe) c.2866-2154A>T (n.2866-2154A>T) n.119A>T c.860A>T c.2685A>T (p.Ter895Cys) n.3643A>T n.2244A>T c.2755A>T (p.Ile919Phe) n.245A>T c.2803A>T (p.Ile935Phe) c.2863A>T (p.Ile955Phe) c.2413A>T (p.Ile805Phe) c.715A>T (p.Ile239Phe) c.2764A>T (p.Ile922Phe) c.2485A>T (p.Ile829Phe) c.2730+3562A>T (n.2730+3562A>T) c.1567A>T (p.Ile523Phe) n.3118A>T | dbSNP |
| 13 | g.51946445T>C | CA388032476 | ATP7B | c.*732A>G (n.*732A>G) c.*1643A>G (n.*1643A>G) c.2278A>G (p.Ile760Val) c.2899A>G (p.Ile967Val) c.2566A>G (p.Ile856Val) c.2647A>G (p.Ile883Val) c.2665A>G (p.Ile889Val) n.1046A>G n.3262A>G c.1834A>G (p.Ile612Val) c.1609A>G (p.Ile537Val) c.2866-2154A>G (n.2866-2154A>G) n.119A>G c.860A>G c.2685A>G (p.Ter895Trp) n.3643A>G n.2244A>G c.2755A>G (p.Ile919Val) n.245A>G c.2803A>G (p.Ile935Val) c.2863A>G (p.Ile955Val) c.2413A>G (p.Ile805Val) c.715A>G (p.Ile239Val) c.2764A>G (p.Ile922Val) c.2485A>G (p.Ile829Val) c.2730+3562A>G (n.2730+3562A>G) c.1567A>G (p.Ile523Val) n.3118A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51946445T>G | CA388032477 | ATP7B | c.*732A>C (n.*732A>C) c.*1643A>C (n.*1643A>C) c.2278A>C (p.Ile760Leu) c.2899A>C (p.Ile967Leu) c.2566A>C (p.Ile856Leu) c.2647A>C (p.Ile883Leu) c.2665A>C (p.Ile889Leu) n.1046A>C n.3262A>C c.1834A>C (p.Ile612Leu) c.1609A>C (p.Ile537Leu) c.2866-2154A>C (n.2866-2154A>C) n.119A>C c.860A>C c.2685A>C (p.Ter895Cys) n.3643A>C n.2244A>C c.2755A>C (p.Ile919Leu) n.245A>C c.2803A>C (p.Ile935Leu) c.2863A>C (p.Ile955Leu) c.2413A>C (p.Ile805Leu) c.715A>C (p.Ile239Leu) c.2764A>C (p.Ile922Leu) c.2485A>C (p.Ile829Leu) c.2730+3562A>C (n.2730+3562A>C) c.1567A>C (p.Ile523Leu) n.3118A>C | |
| 13 | g.51946445T= | CA2091566211 | ATP7B | c.*732A= (n.*732A=) c.*1643A= (n.*1643A=) c.2278A= (p.Ile760=) c.2899A= (p.Ile967=) c.2566A= (p.Ile856=) c.2647A= (p.Ile883=) c.2665A= (p.Ile889=) n.1046A= n.3262A= c.1834A= (p.Ile612=) c.1609A= (p.Ile537=) c.2866-2154A= (n.2866-2154A=) n.119A= c.860A= c.2685A= (p.Ter895=) n.3643A= n.2244A= c.2755A= (p.Ile919=) n.245A= c.2803A= (p.Ile935=) c.2863A= (p.Ile955=) c.2413A= (p.Ile805=) c.715A= (p.Ile239=) c.2764A= (p.Ile922=) c.2485A= (p.Ile829=) c.2730+3562A= (n.2730+3562A=) c.1567A= (p.Ile523=) n.3118A= | |
| 13 | g.51946446C>A | CA483895017 | ATP7B | c.*731G>T (n.*731G>T) c.*1642G>T (n.*1642G>T) c.2277G>T (p.Val759=) c.2898G>T (p.Val966=) c.2565G>T (p.Val855=) c.2646G>T (p.Val882=) c.2664G>T (p.Val888=) n.1045G>T n.3261G>T c.1833G>T (p.Val611=) c.1608G>T (p.Val536=) c.2866-2155G>T (n.2866-2155G>T) n.118G>T c.859G>T c.2684G>T (p.Ter895Leu) n.3642G>T n.2243G>T c.2754G>T (p.Val918=) n.244G>T c.2802G>T (p.Val934=) c.2862G>T (p.Val954=) c.2412G>T (p.Val804=) c.714G>T (p.Val238=) c.2763G>T (p.Val921=) c.2484G>T (p.Val828=) c.2730+3561G>T (n.2730+3561G>T) c.1566G>T (p.Val522=) n.3117G>T | |
| 13 | g.51946446C= | CA2091566212 | ATP7B | c.*731G= (n.*731G=) c.*1642G= (n.*1642G=) c.2277G= (p.Val759=) c.2898G= (p.Val966=) c.2565G= (p.Val855=) c.2646G= (p.Val882=) c.2664G= (p.Val888=) n.1045G= n.3261G= c.1833G= (p.Val611=) c.1608G= (p.Val536=) c.2866-2155G= (n.2866-2155G=) n.118G= c.859G= c.2684G= (p.Ter895=) n.3642G= n.2243G= c.2754G= (p.Val918=) n.244G= c.2802G= (p.Val934=) c.2862G= (p.Val954=) c.2412G= (p.Val804=) c.714G= (p.Val238=) c.2763G= (p.Val921=) c.2484G= (p.Val828=) c.2730+3561G= (n.2730+3561G=) c.1566G= (p.Val522=) n.3117G= | |
| 13 | g.51946446C>G | CA483895018 | ATP7B | c.*731G>C (n.*731G>C) c.*1642G>C (n.*1642G>C) c.2277G>C (p.Val759=) c.2898G>C (p.Val966=) c.2565G>C (p.Val855=) c.2646G>C (p.Val882=) c.2664G>C (p.Val888=) n.1045G>C n.3261G>C c.1833G>C (p.Val611=) c.1608G>C (p.Val536=) c.2866-2155G>C (n.2866-2155G>C) n.118G>C c.859G>C c.2684G>C (p.Ter895Ser) n.3642G>C n.2243G>C c.2754G>C (p.Val918=) n.244G>C c.2802G>C (p.Val934=) c.2862G>C (p.Val954=) c.2412G>C (p.Val804=) c.714G>C (p.Val238=) c.2763G>C (p.Val921=) c.2484G>C (p.Val828=) c.2730+3561G>C (n.2730+3561G>C) c.1566G>C (p.Val522=) n.3117G>C | |
| 13 | g.51946446C>T | CA483895019 | ATP7B | c.*731G>A (n.*731G>A) c.*1642G>A (n.*1642G>A) c.2277G>A (p.Val759=) c.2898G>A (p.Val966=) c.2565G>A (p.Val855=) c.2646G>A (p.Val882=) c.2664G>A (p.Val888=) n.1045G>A n.3261G>A c.1833G>A (p.Val611=) c.1608G>A (p.Val536=) c.2866-2155G>A (n.2866-2155G>A) n.118G>A c.859G>A c.2684G>A (p.Ter895=) n.3642G>A n.2243G>A c.2754G>A (p.Val918=) n.244G>A c.2802G>A (p.Val934=) c.2862G>A (p.Val954=) c.2412G>A (p.Val804=) c.714G>A (p.Val238=) c.2763G>A (p.Val921=) c.2484G>A (p.Val828=) c.2730+3561G>A (n.2730+3561G>A) c.1566G>A (p.Val522=) n.3117G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51946447A= | CA2091566213 | ATP7B | c.*730T= (n.*730T=) c.*1641T= (n.*1641T=) c.2276T= (p.Val759=) c.2897T= (p.Val966=) c.2564T= (p.Val855=) c.2645T= (p.Val882=) c.2663T= (p.Val888=) n.1044T= n.3260T= c.1832T= (p.Val611=) c.1607T= (p.Val536=) c.2866-2156T= (n.2866-2156T=) n.117T= c.858T= c.2683T= (p.Ter895=) n.3641T= n.2242T= c.2753T= (p.Val918=) n.243T= c.2801T= (p.Val934=) c.2861T= (p.Val954=) c.2411T= (p.Val804=) c.713T= (p.Val238=) c.2762T= (p.Val921=) c.2483T= (p.Val828=) c.2730+3560T= (n.2730+3560T=) c.1565T= (p.Val522=) n.3116T= | |
| 13 | g.51946447A>C | CA6988869 | ATP7B | c.*730T>G (n.*730T>G) c.*1641T>G (n.*1641T>G) c.2276T>G (p.Val759Gly) c.2897T>G (p.Val966Gly) c.2564T>G (p.Val855Gly) c.2645T>G (p.Val882Gly) c.2663T>G (p.Val888Gly) n.1044T>G n.3260T>G c.1832T>G (p.Val611Gly) c.1607T>G (p.Val536Gly) c.2866-2156T>G (n.2866-2156T>G) n.117T>G c.858T>G c.2683T>G (p.Ter895Gly) n.3641T>G n.2242T>G c.2753T>G (p.Val918Gly) n.243T>G c.2801T>G (p.Val934Gly) c.2861T>G (p.Val954Gly) c.2411T>G (p.Val804Gly) c.713T>G (p.Val238Gly) c.2762T>G (p.Val921Gly) c.2483T>G (p.Val828Gly) c.2730+3560T>G (n.2730+3560T>G) c.1565T>G (p.Val522Gly) n.3116T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51946447A>G | CA388032480 | ATP7B | c.*730T>C (n.*730T>C) c.*1641T>C (n.*1641T>C) c.2276T>C (p.Val759Ala) c.2897T>C (p.Val966Ala) c.2564T>C (p.Val855Ala) c.2645T>C (p.Val882Ala) c.2663T>C (p.Val888Ala) n.1044T>C n.3260T>C c.1832T>C (p.Val611Ala) c.1607T>C (p.Val536Ala) c.2866-2156T>C (n.2866-2156T>C) n.117T>C c.858T>C c.2683T>C (p.Ter895Arg) n.3641T>C n.2242T>C c.2753T>C (p.Val918Ala) n.243T>C c.2801T>C (p.Val934Ala) c.2861T>C (p.Val954Ala) c.2411T>C (p.Val804Ala) c.713T>C (p.Val238Ala) c.2762T>C (p.Val921Ala) c.2483T>C (p.Val828Ala) c.2730+3560T>C (n.2730+3560T>C) c.1565T>C (p.Val522Ala) n.3116T>C | |
| 13 | g.51946447A>T | CA388032479 | ATP7B | c.*730T>A (n.*730T>A) c.*1641T>A (n.*1641T>A) c.2276T>A (p.Val759Glu) c.2897T>A (p.Val966Glu) c.2564T>A (p.Val855Glu) c.2645T>A (p.Val882Glu) c.2663T>A (p.Val888Glu) n.1044T>A n.3260T>A c.1832T>A (p.Val611Glu) c.1607T>A (p.Val536Glu) c.2866-2156T>A (n.2866-2156T>A) n.117T>A c.858T>A c.2683T>A (p.Ter895Arg) n.3641T>A n.2242T>A c.2753T>A (p.Val918Glu) n.243T>A c.2801T>A (p.Val934Glu) c.2861T>A (p.Val954Glu) c.2411T>A (p.Val804Glu) c.713T>A (p.Val238Glu) c.2762T>A (p.Val921Glu) c.2483T>A (p.Val828Glu) c.2730+3560T>A (n.2730+3560T>A) c.1565T>A (p.Val522Glu) n.3116T>A | |
| 13 | g.51946448C>A | CA388032483 | ATP7B | c.*729G>T (n.*729G>T) c.*1640G>T (n.*1640G>T) c.2275G>T (p.Val759Leu) c.2896G>T (p.Val966Leu) c.2563G>T (p.Val855Leu) c.2644G>T (p.Val882Leu) c.2662G>T (p.Val888Leu) n.1043G>T n.3259G>T c.1831G>T (p.Val611Leu) c.1606G>T (p.Val536Leu) c.2866-2157G>T (n.2866-2157G>T) n.116G>T c.857G>T c.2682G>T (p.Arg894Ser) n.3640G>T n.2241G>T c.2752G>T (p.Val918Leu) n.242G>T c.2800G>T (p.Val934Leu) c.2860G>T (p.Val954Leu) c.2410G>T (p.Val804Leu) c.712G>T (p.Val238Leu) c.2761G>T (p.Val921Leu) c.2482G>T (p.Val828Leu) c.2730+3559G>T (n.2730+3559G>T) c.1564G>T (p.Val522Leu) n.3115G>T | gnomAD v4 |
| 13 | g.51946448C>G | CA388032484 | ATP7B | c.*729G>C (n.*729G>C) c.*1640G>C (n.*1640G>C) c.2275G>C (p.Val759Leu) c.2896G>C (p.Val966Leu) c.2563G>C (p.Val855Leu) c.2644G>C (p.Val882Leu) c.2662G>C (p.Val888Leu) n.1043G>C n.3259G>C c.1831G>C (p.Val611Leu) c.1606G>C (p.Val536Leu) c.2866-2157G>C (n.2866-2157G>C) n.116G>C c.857G>C c.2682G>C (p.Arg894Ser) n.3640G>C n.2241G>C c.2752G>C (p.Val918Leu) n.242G>C c.2800G>C (p.Val934Leu) c.2860G>C (p.Val954Leu) c.2410G>C (p.Val804Leu) c.712G>C (p.Val238Leu) c.2761G>C (p.Val921Leu) c.2482G>C (p.Val828Leu) c.2730+3559G>C (n.2730+3559G>C) c.1564G>C (p.Val522Leu) n.3115G>C | |
| 13 | g.51946448C>T | CA388032486 | ATP7B | c.*729G>A (n.*729G>A) c.*1640G>A (n.*1640G>A) c.2275G>A (p.Val759Met) c.2896G>A (p.Val966Met) c.2563G>A (p.Val855Met) c.2644G>A (p.Val882Met) c.2662G>A (p.Val888Met) n.1043G>A n.3259G>A c.1831G>A (p.Val611Met) c.1606G>A (p.Val536Met) c.2866-2157G>A (n.2866-2157G>A) n.116G>A c.857G>A c.2682G>A (p.Arg894=) n.3640G>A n.2241G>A c.2752G>A (p.Val918Met) n.242G>A c.2800G>A (p.Val934Met) c.2860G>A (p.Val954Met) c.2410G>A (p.Val804Met) c.712G>A (p.Val238Met) c.2761G>A (p.Val921Met) c.2482G>A (p.Val828Met) c.2730+3559G>A (n.2730+3559G>A) c.1564G>A (p.Val522Met) n.3115G>A | gnomAD v4 |
| 13 | g.51946449del | CA2697551868 | ATP7B | c.*729del (n.*729del) c.*1640del (n.*1640del) c.2275del (p.Val759Ter) c.2896del (p.Val966Ter) c.2563del (p.Val855Ter) c.2644del (p.Val882Ter) c.2662del (p.Val888Ter) n.1043del n.3259del c.1831del (p.Val611Ter) c.1606del (p.Val536Ter) c.2866-2157del (n.2866-2157del) n.116del c.857del c.2682del (p.Arg894SerfsTer?) n.3640del n.2241del c.2752del (p.Val918Ter) n.242del c.2800del (p.Val934Ter) c.2860del (p.Val954Ter) c.2410del (p.Val804Ter) c.712del (p.Val238Ter) c.2761del (p.Val921Ter) c.2482del (p.Val828Ter) c.2730+3559del (n.2730+3559del) c.1564del (p.Val522Ter) n.3115del | ClinVar |
| 13 | g.51946449C>A | CA388032487 | ATP7B | c.*728G>T (n.*728G>T) c.*1639G>T (n.*1639G>T) c.2274G>T (p.Glu758Asp) c.2895G>T (p.Glu965Asp) c.2562G>T (p.Glu854Asp) c.2643G>T (p.Glu881Asp) c.2661G>T (p.Glu887Asp) n.1042G>T n.3258G>T c.1830G>T (p.Glu610Asp) c.1605G>T (p.Glu535Asp) c.2866-2158G>T (n.2866-2158G>T) n.115G>T c.856G>T c.2681G>T (p.Arg894Met) n.3639G>T n.2240G>T c.2751G>T (p.Glu917Asp) n.241G>T c.2799G>T (p.Glu933Asp) c.2859G>T (p.Glu953Asp) c.2409G>T (p.Glu803Asp) c.711G>T (p.Glu237Asp) c.2760G>T (p.Glu920Asp) c.2481G>T (p.Glu827Asp) c.2730+3558G>T (n.2730+3558G>T) c.1563G>T (p.Glu521Asp) n.3114G>T | |
| 13 | g.51946449C>G | CA388032489 | ATP7B | c.*728G>C (n.*728G>C) c.*1639G>C (n.*1639G>C) c.2274G>C (p.Glu758Asp) c.2895G>C (p.Glu965Asp) c.2562G>C (p.Glu854Asp) c.2643G>C (p.Glu881Asp) c.2661G>C (p.Glu887Asp) n.1042G>C n.3258G>C c.1830G>C (p.Glu610Asp) c.1605G>C (p.Glu535Asp) c.2866-2158G>C (n.2866-2158G>C) n.115G>C c.856G>C c.2681G>C (p.Arg894Thr) n.3639G>C n.2240G>C c.2751G>C (p.Glu917Asp) n.241G>C c.2799G>C (p.Glu933Asp) c.2859G>C (p.Glu953Asp) c.2409G>C (p.Glu803Asp) c.711G>C (p.Glu237Asp) c.2760G>C (p.Glu920Asp) c.2481G>C (p.Glu827Asp) c.2730+3558G>C (n.2730+3558G>C) c.1563G>C (p.Glu521Asp) n.3114G>C | |
| 13 | g.51946449C>T | CA483895020 | ATP7B | c.*728G>A (n.*728G>A) c.*1639G>A (n.*1639G>A) c.2274G>A (p.Glu758=) c.2895G>A (p.Glu965=) c.2562G>A (p.Glu854=) c.2643G>A (p.Glu881=) c.2661G>A (p.Glu887=) n.1042G>A n.3258G>A c.1830G>A (p.Glu610=) c.1605G>A (p.Glu535=) c.2866-2158G>A (n.2866-2158G>A) n.115G>A c.856G>A c.2681G>A (p.Arg894Lys) n.3639G>A n.2240G>A c.2751G>A (p.Glu917=) n.241G>A c.2799G>A (p.Glu933=) c.2859G>A (p.Glu953=) c.2409G>A (p.Glu803=) c.711G>A (p.Glu237=) c.2760G>A (p.Glu920=) c.2481G>A (p.Glu827=) c.2730+3558G>A (n.2730+3558G>A) c.1563G>A (p.Glu521=) n.3114G>A | gnomAD v4 |
| 13 | g.51946451_51946452del | CA2695218769 | ATP7B | c.*727_*728del (n.*727_*728del) c.*1638_*1639del (n.*1638_*1639del) c.2273_2274del (p.Glu758GlyfsTer?) c.2894_2895del (p.Glu965GlyfsTer?) c.2561_2562del (p.Glu854GlyfsTer?) c.2642_2643del (p.Glu881GlyfsTer?) c.2660_2661del (p.Glu887GlyfsTer?) n.1041_1042del n.3257_3258del c.1829_1830del (p.Glu610GlyfsTer?) c.1604_1605del (p.Glu535GlyfsTer?) c.2866-2159_2866-2158del (n.2866-2159_2866-2158del) n.114_115del c.855_856del c.2680_2681del (p.Arg894ValfsTer?) n.3638_3639del n.2239_2240del c.2750_2751del (p.Glu917GlyfsTer?) n.240_241del c.2798_2799del (p.Glu933GlyfsTer?) c.2858_2859del (p.Glu953GlyfsTer?) c.2408_2409del (p.Glu803GlyfsTer?) c.710_711del (p.Glu237GlyfsTer?) c.2759_2760del (p.Glu920GlyfsTer?) c.2480_2481del (p.Glu827GlyfsTer?) c.2730+3557_2730+3558del (n.2730+3557_2730+3558del) c.1562_1563del (p.Glu521GlyfsTer?) n.3113_3114del | |
| 13 | g.51946449_51946459del | CA2580087670 | ATP7B | c.*718_*728del (n.*718_*728del) c.*1629_*1639del (n.*1629_*1639del) c.2264_2274del (p.Ser755CysfsTer?) c.2885_2895del (p.Ser962CysfsTer?) c.2552_2562del (p.Ser851CysfsTer?) c.2633_2643del (p.Ser878CysfsTer?) c.2651_2661del (p.Ser884CysfsTer?) n.1032_1042del n.3248_3258del c.1820_1830del (p.Ser607CysfsTer?) c.1595_1605del (p.Ser532CysfsTer?) c.2866-2168_2866-2158del (n.2866-2168_2866-2158del) n.105_115del c.846_856del c.2671_2681del (p.Pro891ValfsTer?) n.3629_3639del n.2230_2240del c.2741_2751del (p.Ser914CysfsTer?) n.231_241del c.2789_2799del (p.Ser930CysfsTer?) c.2849_2859del (p.Ser950CysfsTer?) c.2399_2409del (p.Ser800CysfsTer?) c.701_711del (p.Ser234CysfsTer?) c.2750_2760del (p.Ser917CysfsTer?) c.2471_2481del (p.Ser824CysfsTer?) c.2730+3548_2730+3558del (n.2730+3548_2730+3558del) c.1553_1563del (p.Ser518CysfsTer?) n.3104_3114del | ClinVar |
| 13 | g.51946450T>A | CA388032491 | ATP7B | c.*727A>T (n.*727A>T) c.*1638A>T (n.*1638A>T) c.2273A>T (p.Glu758Val) c.2894A>T (p.Glu965Val) c.2561A>T (p.Glu854Val) c.2642A>T (p.Glu881Val) c.2660A>T (p.Glu887Val) n.1041A>T n.3257A>T c.1829A>T (p.Glu610Val) c.1604A>T (p.Glu535Val) c.2866-2159A>T (n.2866-2159A>T) n.114A>T c.855A>T c.2680A>T (p.Arg894Trp) n.3638A>T n.2239A>T c.2750A>T (p.Glu917Val) n.240A>T c.2798A>T (p.Glu933Val) c.2858A>T (p.Glu953Val) c.2408A>T (p.Glu803Val) c.710A>T (p.Glu237Val) c.2759A>T (p.Glu920Val) c.2480A>T (p.Glu827Val) c.2730+3557A>T (n.2730+3557A>T) c.1562A>T (p.Glu521Val) n.3113A>T | |
| 13 | g.51946450T>C | CA388032492 | ATP7B | c.*727A>G (n.*727A>G) c.*1638A>G (n.*1638A>G) c.2273A>G (p.Glu758Gly) c.2894A>G (p.Glu965Gly) c.2561A>G (p.Glu854Gly) c.2642A>G (p.Glu881Gly) c.2660A>G (p.Glu887Gly) n.1041A>G n.3257A>G c.1829A>G (p.Glu610Gly) c.1604A>G (p.Glu535Gly) c.2866-2159A>G (n.2866-2159A>G) n.114A>G c.855A>G c.2680A>G (p.Arg894Gly) n.3638A>G n.2239A>G c.2750A>G (p.Glu917Gly) n.240A>G c.2798A>G (p.Glu933Gly) c.2858A>G (p.Glu953Gly) c.2408A>G (p.Glu803Gly) c.710A>G (p.Glu237Gly) c.2759A>G (p.Glu920Gly) c.2480A>G (p.Glu827Gly) c.2730+3557A>G (n.2730+3557A>G) c.1562A>G (p.Glu521Gly) n.3113A>G | |
| 13 | g.51946450T>G | CA388032493 | ATP7B | c.*727A>C (n.*727A>C) c.*1638A>C (n.*1638A>C) c.2273A>C (p.Glu758Ala) c.2894A>C (p.Glu965Ala) c.2561A>C (p.Glu854Ala) c.2642A>C (p.Glu881Ala) c.2660A>C (p.Glu887Ala) n.1041A>C n.3257A>C c.1829A>C (p.Glu610Ala) c.1604A>C (p.Glu535Ala) c.2866-2159A>C (n.2866-2159A>C) n.114A>C c.855A>C c.2680A>C (p.Arg894=) n.3638A>C n.2239A>C c.2750A>C (p.Glu917Ala) n.240A>C c.2798A>C (p.Glu933Ala) c.2858A>C (p.Glu953Ala) c.2408A>C (p.Glu803Ala) c.710A>C (p.Glu237Ala) c.2759A>C (p.Glu920Ala) c.2480A>C (p.Glu827Ala) c.2730+3557A>C (n.2730+3557A>C) c.1562A>C (p.Glu521Ala) n.3113A>C | |
| 13 | g.51946454_51946457del | CA2695218770 | ATP7B | c.*724_*727del (n.*724_*727del) c.*1635_*1638del (n.*1635_*1638del) c.2270_2273del (p.Thr757ArgfsTer2) c.2891_2894del (p.Thr964ArgfsTer2) c.2558_2561del (p.Thr853ArgfsTer2) c.2639_2642del (p.Thr880ArgfsTer2) c.2657_2660del (p.Thr886ArgfsTer2) n.1038_1041del n.3254_3257del c.1826_1829del (p.Thr609ArgfsTer2) c.1601_1604del (p.Thr534ArgfsTer2) c.2866-2162_2866-2159del (n.2866-2162_2866-2159del) n.111_114del c.852_855del c.2677_2680del (p.Gln893GlyfsTer?) n.3635_3638del n.2236_2239del c.2747_2750del (p.Thr916ArgfsTer2) n.237_240del c.2795_2798del (p.Thr932ArgfsTer2) c.2855_2858del (p.Thr952ArgfsTer2) c.2405_2408del (p.Thr802ArgfsTer2) c.707_710del (p.Thr236ArgfsTer2) c.2756_2759del (p.Thr919ArgfsTer2) c.2477_2480del (p.Thr826ArgfsTer2) c.2730+3554_2730+3557del (n.2730+3554_2730+3557del) c.1559_1562del (p.Thr520ArgfsTer2) n.3110_3113del | |
| 13 | g.51946451C>A | CA388032495 | ATP7B | c.*726G>T (n.*726G>T) c.*1637G>T (n.*1637G>T) c.2272G>T (p.Glu758Ter) c.2893G>T (p.Glu965Ter) c.2560G>T (p.Glu854Ter) c.2641G>T (p.Glu881Ter) c.2659G>T (p.Glu887Ter) n.1040G>T n.3256G>T c.1828G>T (p.Glu610Ter) c.1603G>T (p.Glu535Ter) c.2866-2160G>T (n.2866-2160G>T) n.113G>T c.854G>T c.2679G>T (p.Gln893His) n.3637G>T n.2238G>T c.2749G>T (p.Glu917Ter) n.239G>T c.2797G>T (p.Glu933Ter) c.2857G>T (p.Glu953Ter) c.2407G>T (p.Glu803Ter) c.709G>T (p.Glu237Ter) c.2758G>T (p.Glu920Ter) c.2479G>T (p.Glu827Ter) c.2730+3556G>T (n.2730+3556G>T) c.1561G>T (p.Glu521Ter) n.3112G>T | |
| 13 | g.51946451C>G | CA388032497 | ATP7B | c.*726G>C (n.*726G>C) c.*1637G>C (n.*1637G>C) c.2272G>C (p.Glu758Gln) c.2893G>C (p.Glu965Gln) c.2560G>C (p.Glu854Gln) c.2641G>C (p.Glu881Gln) c.2659G>C (p.Glu887Gln) n.1040G>C n.3256G>C c.1828G>C (p.Glu610Gln) c.1603G>C (p.Glu535Gln) c.2866-2160G>C (n.2866-2160G>C) n.113G>C c.854G>C c.2679G>C (p.Gln893His) n.3637G>C n.2238G>C c.2749G>C (p.Glu917Gln) n.239G>C c.2797G>C (p.Glu933Gln) c.2857G>C (p.Glu953Gln) c.2407G>C (p.Glu803Gln) c.709G>C (p.Glu237Gln) c.2758G>C (p.Glu920Gln) c.2479G>C (p.Glu827Gln) c.2730+3556G>C (n.2730+3556G>C) c.1561G>C (p.Glu521Gln) n.3112G>C | |
| 13 | g.51946451C>T | CA388032498 | ATP7B | c.*726G>A (n.*726G>A) c.*1637G>A (n.*1637G>A) c.2272G>A (p.Glu758Lys) c.2893G>A (p.Glu965Lys) c.2560G>A (p.Glu854Lys) c.2641G>A (p.Glu881Lys) c.2659G>A (p.Glu887Lys) n.1040G>A n.3256G>A c.1828G>A (p.Glu610Lys) c.1603G>A (p.Glu535Lys) c.2866-2160G>A (n.2866-2160G>A) n.113G>A c.854G>A c.2679G>A (p.Gln893=) n.3637G>A n.2238G>A c.2749G>A (p.Glu917Lys) n.239G>A c.2797G>A (p.Glu933Lys) c.2857G>A (p.Glu953Lys) c.2407G>A (p.Glu803Lys) c.709G>A (p.Glu237Lys) c.2758G>A (p.Glu920Lys) c.2479G>A (p.Glu827Lys) c.2730+3556G>A (n.2730+3556G>A) c.1561G>A (p.Glu521Lys) n.3112G>A | gnomAD v4 |
| 13 | g.51946452del | CA2573149711 | ATP7B | c.*725del (n.*725del) c.*1636del (n.*1636del) c.2271del (p.Glu758ArgfsTer2) c.2892del (p.Glu965ArgfsTer2) c.2559del (p.Glu854ArgfsTer2) c.2640del (p.Glu881ArgfsTer2) c.2658del (p.Glu887ArgfsTer2) n.1039del n.3255del c.1827del (p.Glu610ArgfsTer2) c.1602del (p.Glu535ArgfsTer2) c.2866-2161del (n.2866-2161del) n.112del c.853del c.2678del (p.Gln893ArgfsTer?) n.3636del n.2237del c.2748del (p.Glu917ArgfsTer2) n.238del c.2796del (p.Glu933ArgfsTer2) c.2856del (p.Glu953ArgfsTer2) c.2406del (p.Glu803ArgfsTer2) c.708del (p.Glu237ArgfsTer2) c.2757del (p.Glu920ArgfsTer2) c.2478del (p.Glu827ArgfsTer2) c.2730+3555del (n.2730+3555del) c.1560del (p.Glu521ArgfsTer2) n.3111del | ClinVar dbSNP gnomAD v4 |
| 13 | g.51946452T>A | CA483895021 | ATP7B | c.*725A>T (n.*725A>T) c.*1636A>T (n.*1636A>T) c.2271A>T (p.Thr757=) c.2892A>T (p.Thr964=) c.2559A>T (p.Thr853=) c.2640A>T (p.Thr880=) c.2658A>T (p.Thr886=) n.1039A>T n.3255A>T c.1827A>T (p.Thr609=) c.1602A>T (p.Thr534=) c.2866-2161A>T (n.2866-2161A>T) n.112A>T c.853A>T c.2678A>T (p.Gln893Leu) n.3636A>T n.2237A>T c.2748A>T (p.Thr916=) n.238A>T c.2796A>T (p.Thr932=) c.2856A>T (p.Thr952=) c.2406A>T (p.Thr802=) c.708A>T (p.Thr236=) c.2757A>T (p.Thr919=) c.2478A>T (p.Thr826=) c.2730+3555A>T (n.2730+3555A>T) c.1560A>T (p.Thr520=) n.3111A>T | |
| 13 | g.51946452T>C | CA483895022 | ATP7B | c.*725A>G (n.*725A>G) c.*1636A>G (n.*1636A>G) c.2271A>G (p.Thr757=) c.2892A>G (p.Thr964=) c.2559A>G (p.Thr853=) c.2640A>G (p.Thr880=) c.2658A>G (p.Thr886=) n.1039A>G n.3255A>G c.1827A>G (p.Thr609=) c.1602A>G (p.Thr534=) c.2866-2161A>G (n.2866-2161A>G) n.112A>G c.853A>G c.2678A>G (p.Gln893Arg) n.3636A>G n.2237A>G c.2748A>G (p.Thr916=) n.238A>G c.2796A>G (p.Thr932=) c.2856A>G (p.Thr952=) c.2406A>G (p.Thr802=) c.708A>G (p.Thr236=) c.2757A>G (p.Thr919=) c.2478A>G (p.Thr826=) c.2730+3555A>G (n.2730+3555A>G) c.1560A>G (p.Thr520=) n.3111A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51946452T>G | CA6988870 | ATP7B | c.*725A>C (n.*725A>C) c.*1636A>C (n.*1636A>C) c.2271A>C (p.Thr757=) c.2892A>C (p.Thr964=) c.2559A>C (p.Thr853=) c.2640A>C (p.Thr880=) c.2658A>C (p.Thr886=) n.1039A>C n.3255A>C c.1827A>C (p.Thr609=) c.1602A>C (p.Thr534=) c.2866-2161A>C (n.2866-2161A>C) n.112A>C c.853A>C c.2678A>C (p.Gln893Pro) n.3636A>C n.2237A>C c.2748A>C (p.Thr916=) n.238A>C c.2796A>C (p.Thr932=) c.2856A>C (p.Thr952=) c.2406A>C (p.Thr802=) c.708A>C (p.Thr236=) c.2757A>C (p.Thr919=) c.2478A>C (p.Thr826=) c.2730+3555A>C (n.2730+3555A>C) c.1560A>C (p.Thr520=) n.3111A>C | dbSNP ExAC gnomAD v2 |
| 13 | g.51946452T= | CA2091566214 | ATP7B | c.*725A= (n.*725A=) c.*1636A= (n.*1636A=) c.2271A= (p.Thr757=) c.2892A= (p.Thr964=) c.2559A= (p.Thr853=) c.2640A= (p.Thr880=) c.2658A= (p.Thr886=) n.1039A= n.3255A= c.1827A= (p.Thr609=) c.1602A= (p.Thr534=) c.2866-2161A= (n.2866-2161A=) n.112A= c.853A= c.2678A= (p.Gln893=) n.3636A= n.2237A= c.2748A= (p.Thr916=) n.238A= c.2796A= (p.Thr932=) c.2856A= (p.Thr952=) c.2406A= (p.Thr802=) c.708A= (p.Thr236=) c.2757A= (p.Thr919=) c.2478A= (p.Thr826=) c.2730+3555A= (n.2730+3555A=) c.1560A= (p.Thr520=) n.3111A= | |
| 13 | g.51946453G>A | CA388032503 | ATP7B | c.*724C>T (n.*724C>T) c.*1635C>T (n.*1635C>T) c.2270C>T (p.Thr757Ile) c.2891C>T (p.Thr964Ile) c.2558C>T (p.Thr853Ile) c.2639C>T (p.Thr880Ile) c.2657C>T (p.Thr886Ile) n.1038C>T n.3254C>T c.1826C>T (p.Thr609Ile) c.1601C>T (p.Thr534Ile) c.2866-2162C>T (n.2866-2162C>T) n.111C>T c.852C>T c.2677C>T (p.Gln893Ter) n.3635C>T n.2236C>T c.2747C>T (p.Thr916Ile) n.237C>T c.2795C>T (p.Thr932Ile) c.2855C>T (p.Thr952Ile) c.2405C>T (p.Thr802Ile) c.707C>T (p.Thr236Ile) c.2756C>T (p.Thr919Ile) c.2477C>T (p.Thr826Ile) c.2730+3554C>T (n.2730+3554C>T) c.1559C>T (p.Thr520Ile) n.3110C>T | |
| 13 | g.51946453G>C | CA388032501 | ATP7B | c.*724C>G (n.*724C>G) c.*1635C>G (n.*1635C>G) c.2270C>G (p.Thr757Arg) c.2891C>G (p.Thr964Arg) c.2558C>G (p.Thr853Arg) c.2639C>G (p.Thr880Arg) c.2657C>G (p.Thr886Arg) n.1038C>G n.3254C>G c.1826C>G (p.Thr609Arg) c.1601C>G (p.Thr534Arg) c.2866-2162C>G (n.2866-2162C>G) n.111C>G c.852C>G c.2677C>G (p.Gln893Glu) n.3635C>G n.2236C>G c.2747C>G (p.Thr916Arg) n.237C>G c.2795C>G (p.Thr932Arg) c.2855C>G (p.Thr952Arg) c.2405C>G (p.Thr802Arg) c.707C>G (p.Thr236Arg) c.2756C>G (p.Thr919Arg) c.2477C>G (p.Thr826Arg) c.2730+3554C>G (n.2730+3554C>G) c.1559C>G (p.Thr520Arg) n.3110C>G | |
| 13 | g.51946453G>T | CA388032500 | ATP7B | c.*724C>A (n.*724C>A) c.*1635C>A (n.*1635C>A) c.2270C>A (p.Thr757Lys) c.2891C>A (p.Thr964Lys) c.2558C>A (p.Thr853Lys) c.2639C>A (p.Thr880Lys) c.2657C>A (p.Thr886Lys) n.1038C>A n.3254C>A c.1826C>A (p.Thr609Lys) c.1601C>A (p.Thr534Lys) c.2866-2162C>A (n.2866-2162C>A) n.111C>A c.852C>A c.2677C>A (p.Gln893Lys) n.3635C>A n.2236C>A c.2747C>A (p.Thr916Lys) n.237C>A c.2795C>A (p.Thr932Lys) c.2855C>A (p.Thr952Lys) c.2405C>A (p.Thr802Lys) c.707C>A (p.Thr236Lys) c.2756C>A (p.Thr919Lys) c.2477C>A (p.Thr826Lys) c.2730+3554C>A (n.2730+3554C>A) c.1559C>A (p.Thr520Lys) n.3110C>A | |
| 13 | g.51946454T>A | CA388032504 | ATP7B | c.*723A>T (n.*723A>T) c.*1634A>T (n.*1634A>T) c.2269A>T (p.Thr757Ser) c.2890A>T (p.Thr964Ser) c.2557A>T (p.Thr853Ser) c.2638A>T (p.Thr880Ser) c.2656A>T (p.Thr886Ser) n.1037A>T n.3253A>T c.1825A>T (p.Thr609Ser) c.1600A>T (p.Thr534Ser) c.2866-2163A>T (n.2866-2163A>T) n.110A>T c.851A>T c.2676A>T (p.Arg892Ser) n.3634A>T n.2235A>T c.2746A>T (p.Thr916Ser) n.236A>T c.2794A>T (p.Thr932Ser) c.2854A>T (p.Thr952Ser) c.2404A>T (p.Thr802Ser) c.706A>T (p.Thr236Ser) c.2755A>T (p.Thr919Ser) c.2476A>T (p.Thr826Ser) c.2730+3553A>T (n.2730+3553A>T) c.1558A>T (p.Thr520Ser) n.3109A>T | |
| 13 | g.51946454T>C | CA388032505 | ATP7B | c.*723A>G (n.*723A>G) c.*1634A>G (n.*1634A>G) c.2269A>G (p.Thr757Ala) c.2890A>G (p.Thr964Ala) c.2557A>G (p.Thr853Ala) c.2638A>G (p.Thr880Ala) c.2656A>G (p.Thr886Ala) n.1037A>G n.3253A>G c.1825A>G (p.Thr609Ala) c.1600A>G (p.Thr534Ala) c.2866-2163A>G (n.2866-2163A>G) n.110A>G c.851A>G c.2676A>G (p.Arg892=) n.3634A>G n.2235A>G c.2746A>G (p.Thr916Ala) n.236A>G c.2794A>G (p.Thr932Ala) c.2854A>G (p.Thr952Ala) c.2404A>G (p.Thr802Ala) c.706A>G (p.Thr236Ala) c.2755A>G (p.Thr919Ala) c.2476A>G (p.Thr826Ala) c.2730+3553A>G (n.2730+3553A>G) c.1558A>G (p.Thr520Ala) n.3109A>G | |
| 13 | g.51946454T>G | CA388032506 | ATP7B | c.*723A>C (n.*723A>C) c.*1634A>C (n.*1634A>C) c.2269A>C (p.Thr757Pro) c.2890A>C (p.Thr964Pro) c.2557A>C (p.Thr853Pro) c.2638A>C (p.Thr880Pro) c.2656A>C (p.Thr886Pro) n.1037A>C n.3253A>C c.1825A>C (p.Thr609Pro) c.1600A>C (p.Thr534Pro) c.2866-2163A>C (n.2866-2163A>C) n.110A>C c.851A>C c.2676A>C (p.Arg892Ser) n.3634A>C n.2235A>C c.2746A>C (p.Thr916Pro) n.236A>C c.2794A>C (p.Thr932Pro) c.2854A>C (p.Thr952Pro) c.2404A>C (p.Thr802Pro) c.706A>C (p.Thr236Pro) c.2755A>C (p.Thr919Pro) c.2476A>C (p.Thr826Pro) c.2730+3553A>C (n.2730+3553A>C) c.1558A>C (p.Thr520Pro) n.3109A>C | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51946454T= | CA2091566215 | ATP7B | c.*723A= (n.*723A=) c.*1634A= (n.*1634A=) c.2269A= (p.Thr757=) c.2890A= (p.Thr964=) c.2557A= (p.Thr853=) c.2638A= (p.Thr880=) c.2656A= (p.Thr886=) n.1037A= n.3253A= c.1825A= (p.Thr609=) c.1600A= (p.Thr534=) c.2866-2163A= (n.2866-2163A=) n.110A= c.851A= c.2676A= (p.Arg892=) n.3634A= n.2235A= c.2746A= (p.Thr916=) n.236A= c.2794A= (p.Thr932=) c.2854A= (p.Thr952=) c.2404A= (p.Thr802=) c.706A= (p.Thr236=) c.2755A= (p.Thr919=) c.2476A= (p.Thr826=) c.2730+3553A= (n.2730+3553A=) c.1558A= (p.Thr520=) n.3109A= | |
| 13 | g.51946455C>A | CA388032507 | ATP7B | c.*722G>T (n.*722G>T) c.*1633G>T (n.*1633G>T) c.2268G>T (p.Gln756His) c.2889G>T (p.Gln963His) c.2556G>T (p.Gln852His) c.2637G>T (p.Gln879His) c.2655G>T (p.Gln885His) n.1036G>T n.3252G>T c.1824G>T (p.Gln608His) c.1599G>T (p.Gln533His) c.2866-2164G>T (n.2866-2164G>T) n.109G>T c.850G>T c.2675G>T (p.Arg892Ile) n.3633G>T n.2234G>T c.2745G>T (p.Gln915His) n.235G>T c.2793G>T (p.Gln931His) c.2853G>T (p.Gln951His) c.2403G>T (p.Gln801His) c.705G>T (p.Gln235His) c.2754G>T (p.Gln918His) c.2475G>T (p.Gln825His) c.2730+3552G>T (n.2730+3552G>T) c.1557G>T (p.Gln519His) n.3108G>T | |
| 13 | g.51946455C>G | CA388032509 | ATP7B | c.*722G>C (n.*722G>C) c.*1633G>C (n.*1633G>C) c.2268G>C (p.Gln756His) c.2889G>C (p.Gln963His) c.2556G>C (p.Gln852His) c.2637G>C (p.Gln879His) c.2655G>C (p.Gln885His) n.1036G>C n.3252G>C c.1824G>C (p.Gln608His) c.1599G>C (p.Gln533His) c.2866-2164G>C (n.2866-2164G>C) n.109G>C c.850G>C c.2675G>C (p.Arg892Thr) n.3633G>C n.2234G>C c.2745G>C (p.Gln915His) n.235G>C c.2793G>C (p.Gln931His) c.2853G>C (p.Gln951His) c.2403G>C (p.Gln801His) c.705G>C (p.Gln235His) c.2754G>C (p.Gln918His) c.2475G>C (p.Gln825His) c.2730+3552G>C (n.2730+3552G>C) c.1557G>C (p.Gln519His) n.3108G>C |