Table 1 Demographic attributes of the index cases and genomic features of the observed alleles in Pakistani IRDs families between 1999 and April 2023

Ethnicity

 N.D

181

50.70

 Punjab

115

32.21

 Khyber Pakhtunkhwa

49

13.73

 Britishi Pakistani

3

0.84

 Sindh

4

1.12

 Balochistan

3

0.84

 Canadian Pakistani

1

0.28

 Kashmir

1

0.28

Parental consanguinity

 Yes

250

70.03

 N.D

99

27.73

 No

8

2.24

Clinical Diagnosis

 Non-Syndromic

276

77.31

 Syndromic

81

22.68

Inheritance pattern

 Autosomal Dominant

6

1.70

 Autosomal Recessive

341

95.50

 Autosomal Dominant/Recessive

6

1.70

 X-Linked

4

1.10

Genomic features of the observed alleles (n = 277 variants)

 Zygosity

  Homozygous

246

88.81

  N.D

22

7.94

  Heterozygous

6

2.17

  Hemizygous

3

1.08

 Impact Type

  Missense

116

41.88

  Indels/Frameshift

73

26.35

  Nonsense

53

19.13

  Splicing

34

12.27

  Synonymous

1

0.36

Classification of the observed missense variants (n = 116)

 ACMG

  Benign/Likely Benign

8

6.90

  Pathogenic/Likely Pathogenic

63

54.31

  Uncertain Significance

45

38.79

 ClinVar

  Benign/Likely Benign

6

5.17

  Pathogenic/Likely Pathogenic

49

42.24

  Uncertain Significance

16

13.79

  Conflicting

9

7.76

  Not reported

36

31.03

Types of single nucleotide variants (SNVs) reported (n = 170)

 Synonymous

1

0.59

 Missense

116

68.24

 Nonsense

53

31.18

Transitions (n = 109)

 Purine-Purine

45

41.28

 Pyramidine-Pyramidine

64

58.72

Transversions (n = 61)

 Purine-Pyramidine

37

60.66

 Pyramidine-Purine

24

39.34

Transitions (n = 109)

 C > T

48

44.04

 G > A

34

31.19

 A > G

11

10.09

 T > C

16

14.68

Transversions (n = 61)

 G > T

17

27.87

 C > A

10

16.39

 G > C

12

19.67

 T > G

9

14.75

 A > T

6

9.84

 C > G

3

4.92

 T > A

2

3.28

 A > C

2

3.28