Sample information and the results of the comprehensive testing program
| Number . | Sex/age, y . | Phenotype . | Average length of reads . | On-target rate, % . | Depth of sequencing . | Type of variant . | Nucleotide site . | Validation . |
|---|---|---|---|---|---|---|---|---|
| A1 | M/34 | Severe HA | 5631 | 26.0 | 128 | Inv22 type I | LR-PCR | |
| A2 | M/57 | Severe HA | 5872 | 26.1 | 148 | Inv22 type I | LR-PCR | |
| A3 | M/32 | Severe HA | 5707 | 26.0 | 147 | Nonsense | NM_000132.4(F8): c.1804C>T (p.Arg602Ter) | Sanger sequencing |
| A4 | M/27 | Severe HA | 5610 | 27.2 | 153 | Inv22 type I | LR-PCR | |
| A4-2 | F/51 | A4' mother | 5583 | 28.1 | 152 | Inv22 type I carrier | LR-PCR | |
| A5 | M/15 | Severe HA | 5735 | 26.7 | 112 | Nonsense | NM_000132.4(F8): c.6496C>T (p.Arg2166Ter) | Sanger sequencing |
| A5-2 | F/40 | A5' mother | 5576 | 27.6 | 151 | No identical A5 variant found | Sanger sequencing | |
| A6 | M/58 | Severe HA | 5409 | 26.2 | 140 | Inv22 type I | LR-PCR | |
| A7 | M/31 | Severe HA | 5457 | 25.9 | 127 | Inv22 type I | LR-PCR | |
| A8 | M/34 | Severe HA | 5595 | 25.8 | 136 | Nonsense | NM_000132.4(F8): c.6714G>A (p.Trp2238Ter) | Sanger sequencing |
| A9 | M/7 | Severe HA | 5597 | 25.2 | 135 | int22h-related complex rearrangement | LR-PCR PacBio WGS | |
| A10 | M/47 | Severe HA | 5795 | 24.8 | 126 | Inv22 type I | LR-PCR | |
| A10-2 | F/23 | A10' daughter | 5346 | 28.4 | 151 | Inv22 type I carrier | LR-PCR | |
| A11 | M/50 | Severe HA | 5633 | 26.8 | 140 | Missense | NM_000132.4(F8): c.5530C>T (p.Pro1844Ser) | Sanger sequencing |
| A12 | F/32 | Mild HA | 5643 | 28.0 | 169 | int22h-related complex rearrangement carrier | LR-PCR OGM | |
| B1 | M/59 | Severe HB | 5719 | 28.3 | 170 | Missense | NM_000133.4(F9): c.205T>G (p.Cys69Gly) | Sanger sequencing |
| B2 | M/13 | Severe HB | 5690 | 22.8 | 107 | F9 complete deletion | OGM | |
| B2-2 | F/36 | B2' mother | 5864 | 24.9 | 166 | F9 complete deletion carrier |
| Number . | Sex/age, y . | Phenotype . | Average length of reads . | On-target rate, % . | Depth of sequencing . | Type of variant . | Nucleotide site . | Validation . |
|---|---|---|---|---|---|---|---|---|
| A1 | M/34 | Severe HA | 5631 | 26.0 | 128 | Inv22 type I | LR-PCR | |
| A2 | M/57 | Severe HA | 5872 | 26.1 | 148 | Inv22 type I | LR-PCR | |
| A3 | M/32 | Severe HA | 5707 | 26.0 | 147 | Nonsense | NM_000132.4(F8): c.1804C>T (p.Arg602Ter) | Sanger sequencing |
| A4 | M/27 | Severe HA | 5610 | 27.2 | 153 | Inv22 type I | LR-PCR | |
| A4-2 | F/51 | A4' mother | 5583 | 28.1 | 152 | Inv22 type I carrier | LR-PCR | |
| A5 | M/15 | Severe HA | 5735 | 26.7 | 112 | Nonsense | NM_000132.4(F8): c.6496C>T (p.Arg2166Ter) | Sanger sequencing |
| A5-2 | F/40 | A5' mother | 5576 | 27.6 | 151 | No identical A5 variant found | Sanger sequencing | |
| A6 | M/58 | Severe HA | 5409 | 26.2 | 140 | Inv22 type I | LR-PCR | |
| A7 | M/31 | Severe HA | 5457 | 25.9 | 127 | Inv22 type I | LR-PCR | |
| A8 | M/34 | Severe HA | 5595 | 25.8 | 136 | Nonsense | NM_000132.4(F8): c.6714G>A (p.Trp2238Ter) | Sanger sequencing |
| A9 | M/7 | Severe HA | 5597 | 25.2 | 135 | int22h-related complex rearrangement | LR-PCR PacBio WGS | |
| A10 | M/47 | Severe HA | 5795 | 24.8 | 126 | Inv22 type I | LR-PCR | |
| A10-2 | F/23 | A10' daughter | 5346 | 28.4 | 151 | Inv22 type I carrier | LR-PCR | |
| A11 | M/50 | Severe HA | 5633 | 26.8 | 140 | Missense | NM_000132.4(F8): c.5530C>T (p.Pro1844Ser) | Sanger sequencing |
| A12 | F/32 | Mild HA | 5643 | 28.0 | 169 | int22h-related complex rearrangement carrier | LR-PCR OGM | |
| B1 | M/59 | Severe HB | 5719 | 28.3 | 170 | Missense | NM_000133.4(F9): c.205T>G (p.Cys69Gly) | Sanger sequencing |
| B2 | M/13 | Severe HB | 5690 | 22.8 | 107 | F9 complete deletion | OGM | |
| B2-2 | F/36 | B2' mother | 5864 | 24.9 | 166 | F9 complete deletion carrier |
F, female; HA, hemophilia A; HB, hemophilia B; M, male; WGS, whole-genome sequencing.