Variants detected incidentally in MLOF that had previously been reported in hemophilia: hemophilia B patients with F8 variants detected
| Hemophilia B patients and F9 variant detected . | Incidentally detected variation in the F8 gene . | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Patient characteristics . | Reported F9 variant . | Variant detected F8 gene . | Incidence in ExAC database . | ||||||
| Sex . | Baseline FIX level (%) . | HGVS F9 cDNA . | HGVS FIX protein . | HGVS F8 cDNA . | HGVS FVIII protein . | Previously reported in hemophilia A . | Allele count/total alleles . | Number of Homozygotes . | Number of hemizygotes . |
| M | 4 | c.688G>A | p.Gly230Arg | c.389-9C>T | NA | Mild1 | 329/86 143 | 7 | 98 |
| M | <1 | c.709C>T | p.Gln237* | ||||||
| M | <1 | c.1115T>C | p.Leu372Pro | ||||||
| M | <1 | c.968_971dup | p.Leu325Thrfs*15 | c.3169G>A | p.Glul057Lys | Mild, moderate, and severe1,3 | 58/87 425 | 1 | 19 |
| M | <1 | c.727_728delGTinsA | p.Val243llefs*2 | c.3263C>T | p.Thrl088lle | Severe3 | 22/87 381 | 0 | 1 |
| M | 2 | c.881G>A | p.Arg294Gln | c.3342G>A | p.(= ) | Mild3 | 7/87 324 | 0 | 2 |
| M | 2 | c.881G>A | p.Arg294Gln | ||||||
| M | <1 | c.1145G>A | p.Cys382Tyr | c.6374G>C | p.Ser2125Thr | Severe and unclassified3 | 2/87 725 | 0 | 0 |
| M | <1 | c.158_165delins | p.Glu53Glyfs*10 | c.6623A>G | p.Gln2208Arg | Mild1 | 1/87 743 | 0 | 1 |
| GTAAATTGGAAG | |||||||||
| M | 8 | c.1025C>T | p.Thr342Met | c.6929C>T | p.Thr2310lle | Mild3 | 3/83 951 | 0 | 2 |
| Hemophilia B patients and F9 variant detected . | Incidentally detected variation in the F8 gene . | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Patient characteristics . | Reported F9 variant . | Variant detected F8 gene . | Incidence in ExAC database . | ||||||
| Sex . | Baseline FIX level (%) . | HGVS F9 cDNA . | HGVS FIX protein . | HGVS F8 cDNA . | HGVS FVIII protein . | Previously reported in hemophilia A . | Allele count/total alleles . | Number of Homozygotes . | Number of hemizygotes . |
| M | 4 | c.688G>A | p.Gly230Arg | c.389-9C>T | NA | Mild1 | 329/86 143 | 7 | 98 |
| M | <1 | c.709C>T | p.Gln237* | ||||||
| M | <1 | c.1115T>C | p.Leu372Pro | ||||||
| M | <1 | c.968_971dup | p.Leu325Thrfs*15 | c.3169G>A | p.Glul057Lys | Mild, moderate, and severe1,3 | 58/87 425 | 1 | 19 |
| M | <1 | c.727_728delGTinsA | p.Val243llefs*2 | c.3263C>T | p.Thrl088lle | Severe3 | 22/87 381 | 0 | 1 |
| M | 2 | c.881G>A | p.Arg294Gln | c.3342G>A | p.(= ) | Mild3 | 7/87 324 | 0 | 2 |
| M | 2 | c.881G>A | p.Arg294Gln | ||||||
| M | <1 | c.1145G>A | p.Cys382Tyr | c.6374G>C | p.Ser2125Thr | Severe and unclassified3 | 2/87 725 | 0 | 0 |
| M | <1 | c.158_165delins | p.Glu53Glyfs*10 | c.6623A>G | p.Gln2208Arg | Mild1 | 1/87 743 | 0 | 1 |
| GTAAATTGGAAG | |||||||||
| M | 8 | c.1025C>T | p.Thr342Met | c.6929C>T | p.Thr2310lle | Mild3 | 3/83 951 | 0 | 2 |