Missing Data Disclaimer:

The following variant with corresponding patient ID was excluded from visualization due to unresolved annotation:

• exon 15 deletion / p.del493-514 (P028)
• intron 1 mutation / p.= (P077)
• intron 14 mutation / p.= (P137)
• intron 12 splice site mutation / p.? (P147, P148)
• exon 2-15 duplication (P238-243)
• 0.36-Mb gain at Xq28 of maternal origin, encompassing DKC1 (P268, P269)
• partial deletion of the 3' UTR (P313-320)

This variant and case are included in the DKC1 database.