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Table 4 Inheritance of 225 SNVs and indels in NDD HNRNPs

From: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Variant type

De novo % of variant type (n)

Inherited % of variant type (n)

Unknown % of variant type (n)

Total % of all variants (n)

LGD

82 (114/139)

0.7 (1/139)

17.3 (24/139)

61.8 (139/225)

All MIS

58.1 (50/86)

1.2 (1/86)

40.7 (35/86)

38.2 (86/225)

MIS—no CADD score

50 (4/8)

0 (0/8)

50 (4/8)

3.6 (8/225)

MIS20

57.5 (42/73)

1.4 (1/73)

41.1 (30/73)

32.4 (73/225)

MIS30

80 (4/5)

0 (0/5)

28.6 (2/5)

2.7 (6/225)

All variants

73.2 (164/225)

0.9 (2/225)

25.3 (56/225)

100 (225/225)

  1. LGD likely gene disruptive, MIS missense, MIS20 CADD score ≥ 20, MIS30 CADD score ≥ 30. NDD HNRNPs include HNRNPAB, HNRNPD, HNRNPF, HNRNPH1, HNRNPH2, HNRNPH3, HNRNPK, SYNCRIP, HNRNPR, HNRNPU, HNRNPUL1, and HNRNPUL2. Variants identified in non-NDD HNRNPs are in Table S7