Variants - HGD mutation database - Leiden Open Variation Database

Exon number
Type of variant (DNA level)
(Part of) Sequence variation description
	According to nomenclature by den Dunnen JT and Antonarakis SE [2000] Hum.Mut. 15:7-12, Examples
(Part of) Sequence variation on RNA level
(Part of) Protein change description
Disease
	Please separate values by a semi-colon (;).
Reference (author, pubmed ID, etc.)

HGD mutation database