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Table 2 Recurrent variants in the cohort

From: Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Gene Variant Inheritance Type of recurrence Number of cases
CAPN1 c.1969G>T, p.(Glu657*) AR (homozygous) Novel 2
DOK7 c.1124_1127dup, p.(Ala378Serfs*30) AR Founder mutation 2 (both cases compound heterozygous)
ECEL1 c.494T>C, p.(Leu165Pro) AR Founder mutation 2 (one homozygous and one compound heterozygous case)
EXT1 c.1018C>G, p.(Arg340Gly) and c.1018C>T, p.(Arg340Cys) AD Hotspot mutation 2 (one each)
FGFR3 c.1620C>A, p.(Asn540Lys) AD Hotspot mutation 2
FKRP c.826C>A p.(Leu276Ile) AR (homozygous) Founder mutation 12
LAMA2 c.?_4312_4436_?dup AR (homozygous) Novel 2
PRRT2 c.694dup
p.(Arg217Profs*8)
AD Hotspot mutation 6
RFC1 Expansion AR (homozygous) Founder mutation 5
TIA1 c.1150G>A, p.(Glu384Lys) AD Founder mutation 2
TTR c.148G>A, p.(Val50Met) AD Founder mutation 2