| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51950336del | CA273896 | ATP7B | c.*346del (n.*346del) c.*1257del (n.*1257del) c.2027del (p.Lys676SerfsTer?) c.2513del (p.Lys838SerfsTer?) c.2180del (p.Lys727SerfsTer?) c.2261del (p.Lys754SerfsTer?) c.2279del (p.Lys760SerfsTer?) c.1583del (p.Lys528SerfsTer?) c.1286-173del (n.1286-173del) c.474del n.3311del n.1858del c.2369del (p.Lys790SerfsTer?) n.212-3856del c.2417del (p.Lys806SerfsTer?) c.2477del (p.Lys826SerfsTer?) c.329del (p.Lys110SerfsTer?) c.2099del (p.Lys700SerfsTer?) c.1181del (p.Lys394SerfsTer?) n.2732del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51950335_51950336del | CA2580087745 | ATP7B | c.*345_*346del (n.*345_*346del) c.*1256_*1257del (n.*1256_*1257del) c.2026_2027del (p.Lys676ValfsTer15) c.2512_2513del (p.Lys838ValfsTer15) c.2179_2180del (p.Lys727ValfsTer15) c.2260_2261del (p.Lys754ValfsTer15) c.2278_2279del (p.Lys760ValfsTer15) c.1582_1583del (p.Lys528ValfsTer15) c.1286-174_1286-173del (n.1286-174_1286-173del) c.473_474del n.3310_3311del n.1857_1858del c.2368_2369del (p.Lys790ValfsTer15) n.212-3857_212-3856del c.2416_2417del (p.Lys806ValfsTer15) c.2476_2477del (p.Lys826ValfsTer15) c.328_329del (p.Lys110ValfsTer15) c.2098_2099del (p.Lys700ValfsTer15) c.1180_1181del (p.Lys394ValfsTer15) n.2731_2732del | ClinVar dbSNP |