| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51941081C>G | CA388025845 | ATP7B | c.*1206G>C (n.*1206G>C) c.*2300G>C (n.*2300G>C) c.2935G>C (p.Gly979Arg) c.3556G>C (p.Gly1186Arg) c.3223G>C (p.Gly1075Arg) c.3304G>C (p.Gly1102Arg) c.3322G>C (p.Gly1108Arg) n.3695G>C n.3919G>C c.2491G>C (p.Gly831Arg) c.2266G>C (p.Gly756Arg) c.3361G>C (p.Gly1121Arg) c.1334G>C c.*657G>C (n.*657G>C) n.4300G>C n.2901G>C c.3412G>C (p.Gly1138Arg) c.3460G>C (p.Gly1154Arg) c.3520G>C (p.Gly1174Arg) c.3070G>C (p.Gly1024Arg) c.1372G>C (p.Gly458Arg) c.1189G>C (p.Gly397Arg) c.3421G>C (p.Gly1141Arg) c.3373G>C (p.Gly1125Arg) c.3142G>C (p.Gly1048Arg) c.3043G>C (p.Gly1015Arg) c.2224G>C (p.Gly742Arg) n.3775G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51941081C>T | CA274098 | ATP7B | c.*1206G>A (n.*1206G>A) c.*2300G>A (n.*2300G>A) c.2935G>A (p.Gly979Ser) c.3556G>A (p.Gly1186Ser) c.3223G>A (p.Gly1075Ser) c.3304G>A (p.Gly1102Ser) c.3322G>A (p.Gly1108Ser) n.3695G>A n.3919G>A c.2491G>A (p.Gly831Ser) c.2266G>A (p.Gly756Ser) c.3361G>A (p.Gly1121Ser) c.1334G>A c.*657G>A (n.*657G>A) n.4300G>A n.2901G>A c.3412G>A (p.Gly1138Ser) c.3460G>A (p.Gly1154Ser) c.3520G>A (p.Gly1174Ser) c.3070G>A (p.Gly1024Ser) c.1372G>A (p.Gly458Ser) c.1189G>A (p.Gly397Ser) c.3421G>A (p.Gly1141Ser) c.3373G>A (p.Gly1125Ser) c.3142G>A (p.Gly1048Ser) c.3043G>A (p.Gly1015Ser) c.2224G>A (p.Gly742Ser) n.3775G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |