3.3.1. Severe patients There were 115 individual genotypes represented in the 380 patients with a severe phenotype and two reported alleles; 31 genotypes were recurrent and 84 genotypes unique (Table 3). The most common genotypes in severe patients were W402X/W402X (109/380; 28.7%), W402X/Q70X (61/380; 16.1%) and Q70X/Q70X (24/380; 6.3%). In total, these two nonsense variants defined the genotypes of 51% (194/380) of severe patients. Of severe patients, 67.6% (257/380) were either homozygous or compound heterozygous for two variants predicted to severely disrupt gene transcription or translation (eg, nonsense variants, frameshifts, consensus splice site disruption or initiator codon variants). No clinically diagnosed attenuated patients were homozygous or compound heterozygous for such variants. Of the remaining 123 severe patients, 76 comprised 19 recurrent genotypes (Table 3) with the remaining 47 patients (12.6%) having unique genotypes (listed in Table S1). Thirty‐seven of the 84 unique genotypes identified in severe patients were compound heterozygous with two severe variants (as defined above) and were comprised of 34 separate severe variants (listed in Table S1). There were nine missense recurrent variants and one intronic recurrent variant that were exclusively seen in severe patients (Table 5A).

3.3.1. Severe patients There were 115 individual genotypes represented in the 380 patients with a severe phenotype and two reported alleles; 31 genotypes were recurrent and 84 genotypes unique (Table 3). The most common genotypes in severe patients were W402X/W402X (109/380; 28.7%), W402X/Q70X (61/380; 16.1%) and Q70X/Q70X (24/380; 6.3%). In total, these two nonsense variants defined the genotypes of 51% (194/380) of severe patients. Of severe patients, 67.6% (257/380) were either homozygous or compound heterozygous for two variants predicted to severely disrupt gene transcription or translation (eg, nonsense variants, frameshifts, consensus splice site disruption or initiator codon variants). No clinically diagnosed attenuated patients were homozygous or compound heterozygous for such variants. Of the remaining 123 severe patients, 76 comprised 19 recurrent genotypes (Table 3) with the remaining 47 patients (12.6%) having unique genotypes (listed in Table S1). Thirty‐seven of the 84 unique genotypes identified in severe patients were compound heterozygous with two severe variants (as defined above) and were comprised of 34 separate severe variants (listed in Table S1). There were nine missense recurrent variants and one intronic recurrent variant that were exclusively seen in severe patients (Table 5A).

3.3.1. Severe patients There were 115 individual genotypes represented in the 380 patients with a severe phenotype and two reported alleles; 31 genotypes were recurrent and 84 genotypes unique (Table 3). The most common genotypes in severe patients were W402X/W402X (109/380; 28.7%), W402X/Q70X (61/380; 16.1%) and Q70X/Q70X (24/380; 6.3%). In total, these two nonsense variants defined the genotypes of 51% (194/380) of severe patients. Of severe patients, 67.6% (257/380) were either homozygous or compound heterozygous for two variants predicted to severely disrupt gene transcription or translation (eg, nonsense variants, frameshifts, consensus splice site disruption or initiator codon variants). No clinically diagnosed attenuated patients were homozygous or compound heterozygous for such variants. Of the remaining 123 severe patients, 76 comprised 19 recurrent genotypes (Table 3) with the remaining 47 patients (12.6%) having unique genotypes (listed in Table S1). Thirty‐seven of the 84 unique genotypes identified in severe patients were compound heterozygous with two severe variants (as defined above) and were comprised of 34 separate severe variants (listed in Table S1). There were nine missense recurrent variants and one intronic recurrent variant that were exclusively seen in severe patients (Table 5A).