Table 2 Summary of KIAA0753 variants in our and in previously reported patients.

From: Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Family

Individual

Nucleotide changea

Amino acid change

Comments

F1

P1 P2

c.970 C > Tb

p.Arg324*

gnomAD, 4/245846 Het, MAF 1.627e-5 (South Asian and non-Finnish European)

F2

P3

c.970 C > Tb

p.Arg324*

gnomAD, 4/245846 Het, MAF 1.627e-5 (South Asian and non-Finnish European)

F3

P4

c.943 C > T c.1271del

p.Gln315* p.Pro424Hisfs*9

gnomAD, 6/276744 Het, MAF 2.168e-5 (non-Finnish European) Not reported in gnomAD

OFD12

P1

c.1546-3 C > A c.1891A > T

p.Asp439Glyfs*5 p.Lys631*

gnomAD 2/246040 Het, MAF 8.129e-6 (non-Finnish European), rs886038200 gnomAD 2/246166 Het, MAF 8.125e-6 (non-Finnish European), rs886038201

JBTS14

P1 P2

c.769 A > G c.2359-1 G > C

p.Arg257Gly p.Lys787_Gln789del

Not reported in gnomAD Not reported in gnomAD

  1. Het, heterozygous alleles; MAF, minor allele frequency; anucleotide change according to NM_014804.2 bHomozygous for the variant.
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