List of variants studied for HNSHA due to aldolase A deficiency by Illumina Laboratory Services, Illumina

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)	rs77290575	0.01088
NM_001243177.4(ALDOA):c.*136C>T	rs191226606	0.00274
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	rs138824667	0.00256
NM_001243177.4(ALDOA):c.*96C>T	rs886051897	0.00024
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)	rs200761497	0.00019
NM_001243177.4(ALDOA):c.*76C>T	rs886051896	0.00013
NM_001243177.4(ALDOA):c.*101G>A	rs539833998	0.00009
NM_001243177.4(ALDOA):c.*72T>G	rs886051895	0.00009
NM_001243177.4(ALDOA):c.275-5C>T	rs752764982	0.00008
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)	rs766734350	0.00007
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)	rs142315181	0.00006
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)	rs779556052	0.00004
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=)	rs773402743	0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)	rs145582724	0.00003
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)	rs758499704	0.00002
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)	rs886051894	0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)	rs530089317	0.00001
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)	rs886051893	0.00001
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)	rs201468609
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)	rs747482925
NM_001243177.4(ALDOA):c.541+17del	rs886051891
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)	rs886051892

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