Variants detected incidentally in MLOF that had previously been reported in hemophilia: hemophilia A patients with F9 variants detected
| Hemophilia A patient and detected F8 variant . | Incidentally detected variation in the F9 gene . | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Patient characteristics . | F8 variant . | Variant detected in the F9 gene . | Incidence in ExAC database . | ||||||
| Sex . | Baseline FVIII level (%) . | HGVS F8 cDNA . | HGVS FVIII protein . | HGVS F9 cDNA . | HGVS FIX protein . | Previously reported in hemophilia B . | Allele count/total alleles . | Number of homozygotes . | Number of hemizygotes . |
| M | <1 | c.3637delA | p.llel213Phefs*5 | c.19A>T | p.Ile7Phe | Mild, severe, unclassified, and compound with F9 (p.Arg384*)2,4 ,* | 81/87 612 | 0 | 29 |
| M | <1 | c.6429+?_6430-?inv | (F8 inversion) | ||||||
| M | 50 | c.6533G>A | p.Arg2178HiS | ||||||
| M | 5 | c.839G>T | p.Gly280Val | c.907C>T | p.His303Tyr | Mild and severe2,4 ,† | 50/85 682 | 1 | 10 |
| M | 20 | c.21490T | p.Arg717Trp | ||||||
| M | 3 | c.5822A>G | p.Asnl941Ser | c.967G>A | p.Glu323Lys | Mild2,4 | 85/87 196 | 0 | 20 |
| M | <1 | c.6429+?_6430-?inv | (F8 inversion) | c.1346G>A | p.Arg449Gln | Mild2,4 | 10/86 953 | 0 | 7 |
| Hemophilia A patient and detected F8 variant . | Incidentally detected variation in the F9 gene . | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Patient characteristics . | F8 variant . | Variant detected in the F9 gene . | Incidence in ExAC database . | ||||||
| Sex . | Baseline FVIII level (%) . | HGVS F8 cDNA . | HGVS FVIII protein . | HGVS F9 cDNA . | HGVS FIX protein . | Previously reported in hemophilia B . | Allele count/total alleles . | Number of homozygotes . | Number of hemizygotes . |
| M | <1 | c.3637delA | p.llel213Phefs*5 | c.19A>T | p.Ile7Phe | Mild, severe, unclassified, and compound with F9 (p.Arg384*)2,4 ,* | 81/87 612 | 0 | 29 |
| M | <1 | c.6429+?_6430-?inv | (F8 inversion) | ||||||
| M | 50 | c.6533G>A | p.Arg2178HiS | ||||||
| M | 5 | c.839G>T | p.Gly280Val | c.907C>T | p.His303Tyr | Mild and severe2,4 ,† | 50/85 682 | 1 | 10 |
| M | 20 | c.21490T | p.Arg717Trp | ||||||
| M | 3 | c.5822A>G | p.Asnl941Ser | c.967G>A | p.Glu323Lys | Mild2,4 | 85/87 196 | 0 | 20 |
| M | <1 | c.6429+?_6430-?inv | (F8 inversion) | c.1346G>A | p.Arg449Gln | Mild2,4 | 10/86 953 | 0 | 7 |