List of variants studied for BH4-deficient hyperphenylalaninemia A by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.163+14T>C	rs3819331	0.10984
NM_000317.3(PTS):c.405T>C (p.Thr135=)	rs59731976	0.03898
NM_000317.3(PTS):c.*60T>C	rs149320135	0.00631
NM_000317.3(PTS):c.315-3T>C	rs189365250	0.00436
NM_000317.3(PTS):c.195T>C (p.Pro65=)	rs143472856	0.00026
NM_000317.3(PTS):c.372A>T (p.Val124=)	rs139969809	0.00011
NM_000317.3(PTS):c.132C>T (p.Asn44=)	rs763556416	0.00005
NM_000317.3(PTS):c.*16T>C	rs760097954	0.00004
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000317.3(PTS):c.*213A>G	rs916945270	0.00001
NM_000317.3(PTS):c.121G>A (p.Gly41Arg)	rs372852903	0.00001
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)	rs104894274	0.00001
NM_000317.3(PTS):c.*148C>A	rs910098440
NM_000317.3(PTS):c.*58G>C	rs1307423080
NM_000317.3(PTS):c.340A>G (p.Ile114Val)	rs1555198495
NM_000317.3(PTS):c.83+1G>A	rs927103678

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