| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51941111C>T | CA351338 | ATP7B | c.*1176G>A (n.*1176G>A) c.*2270G>A (n.*2270G>A) c.2905G>A (p.Gly969Arg) c.3526G>A (p.Gly1176Arg) c.3193G>A (p.Gly1065Arg) c.3274G>A (p.Gly1092Arg) c.3292G>A (p.Gly1098Arg) n.3665G>A n.3889G>A c.2461G>A (p.Gly821Arg) c.2236G>A (p.Gly746Arg) c.3331G>A (p.Gly1111Arg) c.1304G>A c.*627G>A (n.*627G>A) n.4270G>A n.2871G>A c.3382G>A (p.Gly1128Arg) c.3430G>A (p.Gly1144Arg) c.3490G>A (p.Gly1164Arg) c.3040G>A (p.Gly1014Arg) c.1342G>A (p.Gly448Arg) c.1159G>A (p.Gly387Arg) c.3391G>A (p.Gly1131Arg) c.3343G>A (p.Gly1115Arg) c.3112G>A (p.Gly1038Arg) c.3013G>A (p.Gly1005Arg) c.2194G>A (p.Gly732Arg) n.3745G>A | ClinVar dbSNP |
| 13 | g.51941111C>A | CA270738 | ATP7B | c.*1176G>T (n.*1176G>T) c.*2270G>T (n.*2270G>T) c.2905G>T (p.Gly969Ter) c.3526G>T (p.Gly1176Ter) c.3193G>T (p.Gly1065Ter) c.3274G>T (p.Gly1092Ter) c.3292G>T (p.Gly1098Ter) n.3665G>T n.3889G>T c.2461G>T (p.Gly821Ter) c.2236G>T (p.Gly746Ter) c.3331G>T (p.Gly1111Ter) c.1304G>T c.*627G>T (n.*627G>T) n.4270G>T n.2871G>T c.3382G>T (p.Gly1128Ter) c.3430G>T (p.Gly1144Ter) c.3490G>T (p.Gly1164Ter) c.3040G>T (p.Gly1014Ter) c.1342G>T (p.Gly448Ter) c.1159G>T (p.Gly387Ter) c.3391G>T (p.Gly1131Ter) c.3343G>T (p.Gly1115Ter) c.3112G>T (p.Gly1038Ter) c.3013G>T (p.Gly1005Ter) c.2194G>T (p.Gly732Ter) n.3745G>T | dbSNP |
| 13 | g.51941111C= | CA2091559378 | ATP7B | c.*1176G= (n.*1176G=) c.*2270G= (n.*2270G=) c.2905G= (p.Gly969=) c.3526G= (p.Gly1176=) c.3193G= (p.Gly1065=) c.3274G= (p.Gly1092=) c.3292G= (p.Gly1098=) n.3665G= n.3889G= c.2461G= (p.Gly821=) c.2236G= (p.Gly746=) c.3331G= (p.Gly1111=) c.1304G= c.*627G= (n.*627G=) n.4270G= n.2871G= c.3382G= (p.Gly1128=) c.3430G= (p.Gly1144=) c.3490G= (p.Gly1164=) c.3040G= (p.Gly1014=) c.1342G= (p.Gly448=) c.1159G= (p.Gly387=) c.3391G= (p.Gly1131=) c.3343G= (p.Gly1115=) c.3112G= (p.Gly1038=) c.3013G= (p.Gly1005=) c.2194G= (p.Gly732=) n.3745G= | dbSNP |