List of variants reported as pathogenic for BH4-deficient hyperphenylalaninemia A

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Total variants: 75

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00020
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00010
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	rs62514931	0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	rs762894736	0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000317.3(PTS):c.84-291A>G	rs1480995114	0.00003
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)	rs779681799	0.00002
NM_000317.3(PTS):c.84-3C>G	rs1230781262	0.00002
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val)	rs199475647	0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000317.3(PTS):c.186+1G>T	rs1256819927	0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val)	rs778053171	0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met)	rs370340361	0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)	rs200279736	0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)	rs765406631	0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)	rs104894280	0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)	rs145882709	0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)	rs141163668	0.00001
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter)	rs765777664	0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	rs1317230624	0.00001
NC_000011.10:g.(?_112226434)_(112226536_?)del
NC_000011.10:g.(?_112226444)_(112233555_?)del
NC_000011.9:g.(?_112096088)_(112105696_?)del
NC_000011.9:g.(?_112097157)_(112104288_?)del
NC_000011.9:g.(?_112103876)_(112104288_?)del
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	rs74486803
NM_000317.3(PTS):c.-24_9del	rs2135407114
NM_000317.3(PTS):c.107del (p.Asn36fs)	rs1859894340
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)	rs1449216377
NM_000317.3(PTS):c.118_121del (p.Phe40fs)	rs747260038
NM_000317.3(PTS):c.146A>G (p.His49Arg)	rs750229518
NM_000317.3(PTS):c.159T>G (p.Tyr53Ter)	rs781197929
NM_000317.3(PTS):c.163+696_163+750del	rs1555198165
NM_000317.3(PTS):c.164-7T>A	rs1555198232
NM_000317.3(PTS):c.166G>A (p.Val56Met)	rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)	rs770387277
NM_000317.3(PTS):c.174_175del (p.Val59fs)	rs2135408968
NM_000317.3(PTS):c.186+1G>A
NM_000317.3(PTS):c.189dup (p.Asp64Ter)
NM_000317.3(PTS):c.1A>G (p.Met1Val)	rs2135407146
NM_000317.3(PTS):c.200C>A (p.Thr67Lys)	rs370340361
NM_000317.3(PTS):c.236_239del (p.Tyr79fs)	rs1399026048
NM_000317.3(PTS):c.238A>G (p.Met80Val)	rs1057517810
NM_000317.3(PTS):c.243G>A (p.Glu81=)	rs2135409211
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	rs104894276
NM_000317.3(PTS):c.26G>A (p.Arg9His)	rs1213277062
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)	rs761285716
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)	rs1555198458
NM_000317.3(PTS):c.308T>C (p.Val103Ala)	rs1555198459
NM_000317.3(PTS):c.314+2T>C	rs2135410340
NM_000317.3(PTS):c.315-1G>A
NM_000317.3(PTS):c.315-2A>G	rs1555198483
NM_000317.3(PTS):c.322G>T (p.Glu108Ter)
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)	rs1367077861
NM_000317.3(PTS):c.342C>G (p.Ile114Met)	rs17851590
NM_000317.3(PTS):c.370G>C (p.Val124Leu)
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)	rs1859971515
NM_000317.3(PTS):c.384T>A (p.Tyr128Ter)	rs1859971691
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.393del (p.Val132fs)	rs780332520
NM_000317.3(PTS):c.399C>A (p.Tyr133Ter)	rs199603175
NM_000317.3(PTS):c.3G>T (p.Met1Ile)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	rs779681799
NM_000317.3(PTS):c.407A>T (p.Asp136Val)	rs1859972447
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)	rs1167104933
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)	rs1167104933
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)	rs104894273
NM_000317.3(PTS):c.84-323A>T	rs794726657
NM_000317.3(PTS):c.85A>T (p.Lys29Ter)
NM_000320.3(QDPR):c.421del (p.Leu141fs)	rs1577191558

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