TABLE III.
Recurrent Mutations in US HB Patients
| HGVS cDNA name | HGVS protein name | No. of Patients | CpG site | Haplotype (No. of patients |
|---|---|---|---|---|
| c.127C>T | p.Arg43Trp | 2 | Y | H1(2) |
| c.128G>A | p.Arg43Gln | 2 | Y | H1(2) |
| c.224G>A | p.Arg75Gln | 2 | Y | H8(2) |
| c.223C>T | p.Arg75Stop | 9 | Y | H1(8); H3(1) |
| c.268C>T | p.Gln90Stop | 2 | N | H1(2) |
| c.301C>A | p.Pro101Thr | 2 | N | H3(2) |
| c.301C>G | p.Pro101Ala | 4 | N | H4(4) |
| c.304T>C | p.Cys102Arg | 4 | N | H1(4) |
| c.316G>C | P.Gly106Arg | 2 | N | H1(2) |
| c.316G>A | p.Gly106Ser | 26 | Y | H1(26) |
| c.317G>A | p.Gly106Asp | 3 | N | H3(2); H5(1) |
| c.572G>A | p.Arg191His | 4 | Y | H1(2);H3(1);H2(1) |
| c.677G>A | p.Arg226Gln | 3 | Y | H1(1);H2(1);H7(1) |
| c.786T>G | p.Ile262Met | 2 | N | H3(2) |
| c.802T>C | p.Cys268Arg | 2 | N | H1(2) |
| c.880C>T | p.Arg294Stop | 5 | Y | H1(2);H3(1);H7(1);H8(1) |
| c.881G>A | p.Arg294Gln | 4 | Y | H1(3); H2(1) |
| c.881G>T | p.Arg294Leu | 4 | N | H9(3);H10(1) |
| c.1025C>T | p.Thr342Met | 38 | Y | H1(38) |
| c.1067G>A | p.Trp356Stop | 3 | N | H1(1);H2(1);H3(1) |
| c.1240C>A | p.Pro414Thr | 2 | N | H3(2) |
| c.1328T>C | p.Ile443Thr | 20 | N | H4(20) |
| c.545_546del | p.Ser182Cysfs*6 | 2 | H1(1);H4(1) | |
| c.627delC | p.Ile210Phefs*35 | 2 | H1(2) | |
| c.–35G>A | promoter | 3 | Y | H1(2);H6(1) |
| c.392-1G>C | Intron 4 | 2 | N | H9(2) |