Male subjects in whom 2 reportable variants were detected (all with hemophilia A)
| Baseline level (%) . | First variant HGVS cDNA . | First variant exon/intron . | First variant HGVS protein . | Second variant HGVS cDNA . | Second variant exon/intron . | Second variant HGVS protein . |
|---|---|---|---|---|---|---|
| <1* | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.6188-?_6429+?del | Exons 21-22 | (Deletion) |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.1908delGinsCATCAAAGTACTTCAAAAA | Exon 17 | p.Trp1908delinsSerSerLysTyrPheLysLys |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.-279C>T | 5′UTR | NA |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.6929C>T | Exon 26 | p.Thr2291Ile |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.1-?_6429+?del | Exons 1-22 | (Deletion) |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.6430-?_6900+?dup | Exons 23-25 | (Duplication) |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.6116-?_6429+?del | Exons 20-22 | (Deletion) |
| <1 | c.1139A>G | Exon 8 | p.Asp380Gly | c.5999-3_6002del | Intron 18/exon 19 | Gly2000Valfs*29† |
| <1 | c.1313T>C‡ | Exon 9 | p.Ile438Thr | c.1373G>A‡ | Exon 9 | Arg458His |
| <1 | c.144-?_601+?dup§ | Exons 2-4 | (Duplication) | c.671-?_787+?dup§ | Exon 6 | (Duplication) |
| <1 | c.1538-18G>A§ | Intron 10 | (Splice) | c.1538-13delT§ | Intron 10 | (Splice) |
| <1 | c.311T>G | Exon 3 | p.Val104Gly | c.343G>C | Intron 3 | p.Val115Leu |
| <1 | c.389-?_1443+?del | Exons 4-9 | (Deletion) | c.1538-?_1903+?del | Exons 11-12 | (Deletion) |
| <1 | c.5705T>G | Exon 17 | p.Phe1902Cys | c.5725T>C | Exon 17 | p.Tyr1909His |
| <1 | c.575T>C | Exon 4 | p.Ile192Thr | c.589G>C | Exon 4 | p.Val197Leu |
| <1 | c.5901C>G | Exon 18 | p.(=) | c.5921C>A | Exon 18 | p.Ser1974Tyr |
| <1 | c.6406C>T | Exon 19 | p.Arg2016Trp | c.6724G>A | Exon 25 | p.Val2242Met |
| <1 | c.6046C>T | Exon 19 | p.Arg2016Trp | c.6403C>T | Exon 22 | p.Arg2135* |
| 2 | c.5247C>G | Exon 15 | p.Phe1749Leu | c.5302C>T | Exon 15 | Arg1768Cys |
| 8 | c.1280A>T | Exon 9 | p.Lys427Ile | c.1309C>T | Exon 9 | p.Arg437Trp |
| 22 | c.655G>A | Exon 5 | p.Ala219Thr | c.6583C>A | Exon 24 | p.Met2195Leu |
| Baseline level (%) . | First variant HGVS cDNA . | First variant exon/intron . | First variant HGVS protein . | Second variant HGVS cDNA . | Second variant exon/intron . | Second variant HGVS protein . |
|---|---|---|---|---|---|---|
| <1* | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.6188-?_6429+?del | Exons 21-22 | (Deletion) |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.1908delGinsCATCAAAGTACTTCAAAAA | Exon 17 | p.Trp1908delinsSerSerLysTyrPheLysLys |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.-279C>T | 5′UTR | NA |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.6929C>T | Exon 26 | p.Thr2291Ile |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.1-?_6429+?del | Exons 1-22 | (Deletion) |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.6430-?_6900+?dup | Exons 23-25 | (Duplication) |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | c.6116-?_6429+?del | Exons 20-22 | (Deletion) |
| <1 | c.1139A>G | Exon 8 | p.Asp380Gly | c.5999-3_6002del | Intron 18/exon 19 | Gly2000Valfs*29† |
| <1 | c.1313T>C‡ | Exon 9 | p.Ile438Thr | c.1373G>A‡ | Exon 9 | Arg458His |
| <1 | c.144-?_601+?dup§ | Exons 2-4 | (Duplication) | c.671-?_787+?dup§ | Exon 6 | (Duplication) |
| <1 | c.1538-18G>A§ | Intron 10 | (Splice) | c.1538-13delT§ | Intron 10 | (Splice) |
| <1 | c.311T>G | Exon 3 | p.Val104Gly | c.343G>C | Intron 3 | p.Val115Leu |
| <1 | c.389-?_1443+?del | Exons 4-9 | (Deletion) | c.1538-?_1903+?del | Exons 11-12 | (Deletion) |
| <1 | c.5705T>G | Exon 17 | p.Phe1902Cys | c.5725T>C | Exon 17 | p.Tyr1909His |
| <1 | c.575T>C | Exon 4 | p.Ile192Thr | c.589G>C | Exon 4 | p.Val197Leu |
| <1 | c.5901C>G | Exon 18 | p.(=) | c.5921C>A | Exon 18 | p.Ser1974Tyr |
| <1 | c.6406C>T | Exon 19 | p.Arg2016Trp | c.6724G>A | Exon 25 | p.Val2242Met |
| <1 | c.6046C>T | Exon 19 | p.Arg2016Trp | c.6403C>T | Exon 22 | p.Arg2135* |
| 2 | c.5247C>G | Exon 15 | p.Phe1749Leu | c.5302C>T | Exon 15 | Arg1768Cys |
| 8 | c.1280A>T | Exon 9 | p.Lys427Ile | c.1309C>T | Exon 9 | p.Arg437Trp |
| 22 | c.655G>A | Exon 5 | p.Ala219Thr | c.6583C>A | Exon 24 | p.Met2195Leu |