Table 3 Biallelic cryptic variants detected in ES-negative patients.

From: Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

Family

Gene

Variant 1

Variant 2

COR99

CPLANE1

c.2747-161 A > G (p.Gly916Gly_Ala917ins21)

exon7_8del

COR437

CPLANE1

[c.8471-4_8471-3del (p.Gly2824ValfsTer9); c.8471-4_8471-3del (p.Gly2824ValfsTer9)]

COR545

CPLANE1

[c.8471-4_8471-3del (p.Gly2824ValfsTer9); c.8471-4_8471-3del (p.Gly2824ValfsTer9)]

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