Female subjects in whom 2 reportable variants were detected (all with hemophilia A)
| Female baseline level (%) . | First variant HGVS cDNA . | First variant exon/intron . | First variant HGVS protein . | Reported male severity* . | Second variant HGVS cDNA . | Second variant exon/intron . | Second variant HGVS protein . | Reported male severity* . |
|---|---|---|---|---|---|---|---|---|
| 12 | c.1-?_143+del | Exon 1 | (Deletion) | Moderate, severe | c.6274-?_6429+?del | Exon 22 | (Deletion) | Moderate, severe1 |
| <1 | c.143+?_144-?inv | Intron 1 | (F8 inversion) | Severe | c.144-?_601+?del | Exons 2-4 | (Deletion) | Severe1 |
| 26 | c.1302C>T | Exon 9 | p.(=) | NA | c.1331_1333delinsT | Exon 9 | p.Lys444ilefs*9 | NA |
| 29 | c.1834C>T | Exon 12 | p.Arg612Cys | Mild, moderate | c.6622C>G | Exon 24 | p.Gln2208Glu | Mild |
| 37 | c.2167G>A | Exon 14 | p.Ala723Thr | Mild, moderate, severe | c.6066C>G | Exon 19 | p.(=) | NA |
| 15 | c.2167G>A | Exon 14 | p.Ala723Thr | Mild, moderate, severe | c.6871A>G | Exon 25 | p.Thr2291Ala | NA |
| 1 | c.5878C>A | Exon 18 | p.(=) | Moderate, severe | c.1538-2A>G | Intron 10 | (Splice) | Severe1 |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | Severe | c.1-?_6429+?del | Exons 1-22 | (Deletion) | Severe1†,‡ |
| 18 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | Severe | c.6430-?_6900+?dup | Exons 23-25 | (Duplication) | Severe† |
| 34 | c.6632C>T | Exon 24 | p.Ala2211Val | Mild | c.6929C>T | Exon 26 | p.Thr2310Ile | Mild |
| Female baseline level (%) . | First variant HGVS cDNA . | First variant exon/intron . | First variant HGVS protein . | Reported male severity* . | Second variant HGVS cDNA . | Second variant exon/intron . | Second variant HGVS protein . | Reported male severity* . |
|---|---|---|---|---|---|---|---|---|
| 12 | c.1-?_143+del | Exon 1 | (Deletion) | Moderate, severe | c.6274-?_6429+?del | Exon 22 | (Deletion) | Moderate, severe1 |
| <1 | c.143+?_144-?inv | Intron 1 | (F8 inversion) | Severe | c.144-?_601+?del | Exons 2-4 | (Deletion) | Severe1 |
| 26 | c.1302C>T | Exon 9 | p.(=) | NA | c.1331_1333delinsT | Exon 9 | p.Lys444ilefs*9 | NA |
| 29 | c.1834C>T | Exon 12 | p.Arg612Cys | Mild, moderate | c.6622C>G | Exon 24 | p.Gln2208Glu | Mild |
| 37 | c.2167G>A | Exon 14 | p.Ala723Thr | Mild, moderate, severe | c.6066C>G | Exon 19 | p.(=) | NA |
| 15 | c.2167G>A | Exon 14 | p.Ala723Thr | Mild, moderate, severe | c.6871A>G | Exon 25 | p.Thr2291Ala | NA |
| 1 | c.5878C>A | Exon 18 | p.(=) | Moderate, severe | c.1538-2A>G | Intron 10 | (Splice) | Severe1 |
| <1 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | Severe | c.1-?_6429+?del | Exons 1-22 | (Deletion) | Severe1†,‡ |
| 18 | c.6429+?_6430-?inv | Intron 22 | (F8 inversion) | Severe | c.6430-?_6900+?dup | Exons 23-25 | (Duplication) | Severe† |
| 34 | c.6632C>T | Exon 24 | p.Ala2211Val | Mild | c.6929C>T | Exon 26 | p.Thr2310Ile | Mild |
NA, not applicable because of lack of hemophilia severity information in males.
Unless otherwise indicated, the data on male severity associated with each variant are from MLOF.
Variant found in a male with severe hemophilia who also had the other female reported variant.
In EAHAD database (ref#1), c.1-?_6429+?del is reported associated with severe hemophilia in females.