- Variants detected in compound heterozygous state in 15 patients with Wilson disease.
| Pt’s ID | First variant | Effect / Classification | Second variant | Effect / Classification | Presentation | Score after NGS |
|---|---|---|---|---|---|---|
| 2# | c.3517G>A (p.Glu1173Lys) | Missense/pathogenic | c.4051C>T (p.Gln1351Ter) | Stop-gain / pathogenic | Hepatic | 10 |
| 3 | c.1924G>C (p.Asp642His) | Missense/pathogenic | c.1870-39T>C (Intronic variant) | Intronic / Likely pathogenic | Mixed | 11 |
| 7 | c.2332C>G (p.Arg778Gly) | Missense/pathogenic | c.562C>T (p.Gln188Ter) | Stop-gain / pathogenic | Hepatic | 9 |
| 9 | c.4092-4093delGT (p.Ser1365CysfsTer12) | Frameshift/pathogenic | c.3556G>A (p.Gly1186Ser) | Missense / pathogenic | Hepatic | 8 |
| 11 | c.3955C>T (p.Arg1319Ter) | Stop-gain / pathogenic | c.3472-3482del GGTTTAACCAT (p.Gly1158PhefsTer2) | Frameshift / pathogenic | Mixed | 8 |
| 12 | c.3538A>G (p.Ile1180Val) | Missense/likely pathogenic | c.2730+39-2730+41delGTT (Intronic deletion) | Intronic deletion / Likely pathogenic | Mixed | 10 |
| 19 | c.3649-3654del GTTCTG (p.Val1217-Leu1218del) | Inframe-deletion / pathogenic | c.2804C>T (p.Thr935Met) | Missense / pathogenic | Mixed | 10 |
| 20 | c.3960G>C (p.Arg1320Ser) | Missense/ pathogenic | c.3121C>T (p.Arg1041Trp) | Missense / likely pathogenic | Hepatic | 7 |
| 28 | c.3317T>A (p.Val1106Asp) | Missense / likely pathogenic | c.3263T>A (p.Leu1088Ter) | Stop-gain / pathogenic | Mixed | 10 |
| 32 | c.2972C>T (p.Thr991Met) | Missense/ pathogenic | c.2297C>G (p.Thr766Arg) | Missense / pathogenic | Hepatic | 7 |
| 42 | c.3182G>A (p.Gly1061Glu) | Missense/ pathogenic | c.1924G>T (p.Asp642Tyr) | Missense / pathogenic | Hepatic | 8 |
| 44 | c.2827G>A (p.Gly943Ser) | Missense/ pathogenic | c.2530A>T (p.Lys844Ter) | Stop-gain / Pathogenic | Hepatic | 6 |
| 46 | c.1708-1G>A (Splice acceptor variant) | Splice acceptor/ pathogenic | c.1543+1G>C (Splice donor variant) | Splice donor / pathogenic | Hepatic | 9 |
| 47 | c.3443T>C (p.Ile1148Thr) | Missense/ pathogenic | c.2333G>T (p.Arg778Leu) | Missense / pathogenic | Neuro | 8 |
| 49 | c.2930C>T (p.Thr977Met) | Missense/ pathogenic | c.2549C>T (p.Thr850Ile) | Missense / pathogenic | Hepatic | 7 |
NGS: next-generation sequencing
↵# This patient had additional third variant, c.2447+11delG (intronic variant, classified as likely pathogenic).