Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.102840369C=	CA2059441313	PAH	c.1315+31G= (n.1315+31G=) c.1300+31G= (n.1300+31G=) n.977+31G= c.419+31G= n.830+31G= c.1258+31G= (n.1258+31G=)
12	g.102840369C>G	CA6748694	PAH	c.1315+31G>C (n.1315+31G>C) c.1300+31G>C (n.1300+31G>C) n.977+31G>C c.419+31G>C n.830+31G>C c.1258+31G>C (n.1258+31G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.102840369C>T	CA6748693	PAH	c.1315+31G>A (n.1315+31G>A) c.1300+31G>A (n.1300+31G>A) n.977+31G>A c.419+31G>A n.830+31G>A c.1258+31G>A (n.1258+31G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840370G>A	CA6748695	PAH	c.1315+30C>T (n.1315+30C>T) c.1300+30C>T (n.1300+30C>T) n.977+30C>T c.419+30C>T n.830+30C>T c.1258+30C>T (n.1258+30C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840370G=	CA2059441321	PAH	c.1315+30C= (n.1315+30C=) c.1300+30C= (n.1300+30C=) n.977+30C= c.419+30C= n.830+30C= c.1258+30C= (n.1258+30C=)
12	g.102840370G>T	CA6748696	PAH	c.1315+30C>A (n.1315+30C>A) c.1300+30C>A (n.1300+30C>A) n.977+30C>A c.419+30C>A n.830+30C>A c.1258+30C>A (n.1258+30C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.102840371A=	CA2059441323	PAH	c.1315+29T= (n.1315+29T=) c.1300+29T= (n.1300+29T=) n.977+29T= c.419+29T= n.830+29T= c.1258+29T= (n.1258+29T=)
12	g.102840371A>C	CA6748697	PAH	c.1315+29T>G (n.1315+29T>G) c.1300+29T>G (n.1300+29T>G) n.977+29T>G c.419+29T>G n.830+29T>G c.1258+29T>G (n.1258+29T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840371A>T	CA2620526747	PAH	c.1315+29T>A (n.1315+29T>A) c.1300+29T>A (n.1300+29T>A) n.977+29T>A c.419+29T>A n.830+29T>A c.1258+29T>A (n.1258+29T>A)	gnomAD v4
12	g.102840372G>C	CA607427178	PAH	c.1315+28C>G (n.1315+28C>G) c.1300+28C>G (n.1300+28C>G) n.977+28C>G c.419+28C>G n.830+28C>G c.1258+28C>G (n.1258+28C>G)	dbSNP gnomAD v2 gnomAD v4
12	g.102840372G=	CA2059441327	PAH	c.1315+28C= (n.1315+28C=) c.1300+28C= (n.1300+28C=) n.977+28C= c.419+28C= n.830+28C= c.1258+28C= (n.1258+28C=)
12	g.102840374G>A	CA2059441331	PAH	c.1315+26C>T (n.1315+26C>T) c.1300+26C>T (n.1300+26C>T) n.977+26C>T c.419+26C>T n.830+26C>T c.1258+26C>T (n.1258+26C>T)	dbSNP
12	g.102840374G>C	CA2059441333	PAH	c.1315+26C>G (n.1315+26C>G) c.1300+26C>G (n.1300+26C>G) n.977+26C>G c.419+26C>G n.830+26C>G c.1258+26C>G (n.1258+26C>G)	dbSNP
12	g.102840374G=	CA2059441330	PAH	c.1315+26C= (n.1315+26C=) c.1300+26C= (n.1300+26C=) n.977+26C= c.419+26C= n.830+26C= c.1258+26C= (n.1258+26C=)
12	g.102840374G>T	CA2620526754	PAH	c.1315+26C>A (n.1315+26C>A) c.1300+26C>A (n.1300+26C>A) n.977+26C>A c.419+26C>A n.830+26C>A c.1258+26C>A (n.1258+26C>A)	gnomAD v4
12	g.102840375G>A	CA2620526755	PAH	c.1315+25C>T (n.1315+25C>T) c.1300+25C>T (n.1300+25C>T) n.977+25C>T c.419+25C>T n.830+25C>T c.1258+25C>T (n.1258+25C>T)	gnomAD v4
12	g.102840375G>T	CA655173670	PAH	c.1315+25C>A (n.1315+25C>A) c.1300+25C>A (n.1300+25C>A) n.977+25C>A c.419+25C>A n.830+25C>A c.1258+25C>A (n.1258+25C>A)	gnomAD v4 COSMIC
12	g.102840376C>A	CA2620526756	PAH	c.1315+24G>T (n.1315+24G>T) c.1300+24G>T (n.1300+24G>T) n.977+24G>T c.419+24G>T n.830+24G>T c.1258+24G>T (n.1258+24G>T)	gnomAD v4
12	g.102840378_102840379delinsTC	CA2059441336	PAH	c.1315+21_1315+22delinsGA (n.1315+21_1315+22delinsGA) c.1300+21_1300+22delinsGA (n.1300+21_1300+22delinsGA) n.977+21_977+22delinsGA c.419+21_419+22delinsGA n.830+21_830+22delinsGA c.1258+21_1258+22delinsGA (n.1258+21_1258+22delinsGA)
12	g.102840379del	CA607427179	PAH	c.1315+21del (n.1315+21del) c.1300+21del (n.1300+21del) n.977+21del c.419+21del n.830+21del c.1258+21del (n.1258+21del)	dbSNP gnomAD v2 gnomAD v4
12	g.102840379C=	CA2059441344	PAH	c.1315+21G= (n.1315+21G=) c.1300+21G= (n.1300+21G=) n.977+21G= c.419+21G= n.830+21G= c.1258+21G= (n.1258+21G=)
12	g.102840379C>G	CA2620526757	PAH	c.1315+21G>C (n.1315+21G>C) c.1300+21G>C (n.1300+21G>C) n.977+21G>C c.419+21G>C n.830+21G>C c.1258+21G>C (n.1258+21G>C)	gnomAD v4
12	g.102840379C>T	CA242743396	PAH	c.1315+21G>A (n.1315+21G>A) c.1300+21G>A (n.1300+21G>A) n.977+21G>A c.419+21G>A n.830+21G>A c.1258+21G>A (n.1258+21G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840380G>A	CA6748698	PAH	c.1315+20C>T (n.1315+20C>T) c.1300+20C>T (n.1300+20C>T) n.977+20C>T c.419+20C>T n.830+20C>T c.1258+20C>T (n.1258+20C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840380G=	CA2059441346	PAH	c.1315+20C= (n.1315+20C=) c.1300+20C= (n.1300+20C=) n.977+20C= c.419+20C= n.830+20C= c.1258+20C= (n.1258+20C=)
12	g.102840380G>T	CA2575266710	PAH	c.1315+20C>A (n.1315+20C>A) c.1300+20C>A (n.1300+20C>A) n.977+20C>A c.419+20C>A n.830+20C>A c.1258+20C>A (n.1258+20C>A)	gnomAD v4
12	g.102840381T>G	CA2620526758	PAH	c.1315+19A>C (n.1315+19A>C) c.1300+19A>C (n.1300+19A>C) n.977+19A>C c.419+19A>C n.830+19A>C c.1258+19A>C (n.1258+19A>C)	gnomAD v4
12	g.102840383A=	CA2059441349	PAH	c.1315+17T= (n.1315+17T=) c.1300+17T= (n.1300+17T=) n.977+17T= c.419+17T= n.830+17T= c.1258+17T= (n.1258+17T=)
12	g.102840383A>C	CA655173671	PAH	c.1315+17T>G (n.1315+17T>G) c.1300+17T>G (n.1300+17T>G) n.977+17T>G c.419+17T>G n.830+17T>G c.1258+17T>G (n.1258+17T>G)	COSMIC
12	g.102840383A>G	CA2059441351	PAH	c.1315+17T>C (n.1315+17T>C) c.1300+17T>C (n.1300+17T>C) n.977+17T>C c.419+17T>C n.830+17T>C c.1258+17T>C (n.1258+17T>C)	ClinVar dbSNP gnomAD v4
12	g.102840384G>A	CA2620526759	PAH	c.1315+16C>T (n.1315+16C>T) c.1300+16C>T (n.1300+16C>T) n.977+16C>T c.419+16C>T n.830+16C>T c.1258+16C>T (n.1258+16C>T)	gnomAD v4
12	g.102840384G=	CA2059441353	PAH	c.1315+16C= (n.1315+16C=) c.1300+16C= (n.1300+16C=) n.977+16C= c.419+16C= n.830+16C= c.1258+16C= (n.1258+16C=)
12	g.102840384G>T	CA242743399	PAH	c.1315+16C>A (n.1315+16C>A) c.1300+16C>A (n.1300+16C>A) n.977+16C>A c.419+16C>A n.830+16C>A c.1258+16C>A (n.1258+16C>A)	ClinVar dbSNP gnomAD v4
12	g.102840385G>A	CA2620526760	PAH	c.1315+15C>T (n.1315+15C>T) c.1300+15C>T (n.1300+15C>T) n.977+15C>T c.419+15C>T n.830+15C>T c.1258+15C>T (n.1258+15C>T)	gnomAD v4
12	g.102840385G>T	CA2620526761	PAH	c.1315+15C>A (n.1315+15C>A) c.1300+15C>A (n.1300+15C>A) n.977+15C>A c.419+15C>A n.830+15C>A c.1258+15C>A (n.1258+15C>A)	gnomAD v4
12	g.102840386del	CA2739277282	PAH	c.1315+14del (n.1315+14del) c.1300+14del (n.1300+14del) n.977+14del c.419+14del n.830+14del c.1258+14del (n.1258+14del)	ClinVar
12	g.102840386T>C	CA2797242662	PAH	c.1315+14A>G (n.1315+14A>G) c.1300+14A>G (n.1300+14A>G) n.977+14A>G c.419+14A>G n.830+14A>G c.1258+14A>G (n.1258+14A>G)
12	g.102840387G>A	CA2620526762	PAH	c.1315+13C>T (n.1315+13C>T) c.1300+13C>T (n.1300+13C>T) n.977+13C>T c.419+13C>T n.830+13C>T c.1258+13C>T (n.1258+13C>T)	ClinVar gnomAD v4
12	g.102840387G>T	CA2575266711	PAH	c.1315+13C>A (n.1315+13C>A) c.1300+13C>A (n.1300+13C>A) n.977+13C>A c.419+13C>A n.830+13C>A c.1258+13C>A (n.1258+13C>A)	gnomAD v4
12	g.102840389_102840391del	CA2575266712	PAH	c.1315+9_1315+11del (n.1315+9_1315+11del) c.1300+9_1300+11del (n.1300+9_1300+11del) n.977+9_977+11del c.419+9_419+11del n.830+9_830+11del c.1258+9_1258+11del (n.1258+9_1258+11del)
12	g.102840391del	CA2620526763	PAH	c.1315+11del (n.1315+11del) c.1300+11del (n.1300+11del) n.977+11del c.419+11del n.830+11del c.1258+11del (n.1258+11del)	gnomAD v4
12	g.102840390A>C	CA2697551024	PAH	c.1315+10T>G (n.1315+10T>G) c.1300+10T>G (n.1300+10T>G) n.977+10T>G c.419+10T>G n.830+10T>G c.1258+10T>G (n.1258+10T>G)	ClinVar
12	g.102840391A=	CA2059441357	PAH	c.1315+9T= (n.1315+9T=) c.1300+9T= (n.1300+9T=) n.977+9T= c.419+9T= n.830+9T= c.1258+9T= (n.1258+9T=)
12	g.102840391A>G	CA242743402	PAH	c.1315+9T>C (n.1315+9T>C) c.1300+9T>C (n.1300+9T>C) n.977+9T>C c.419+9T>C n.830+9T>C c.1258+9T>C (n.1258+9T>C)	ClinVar dbSNP
12	g.102840393T>G	CA2697551025	PAH	c.1315+7A>C (n.1315+7A>C) c.1300+7A>C (n.1300+7A>C) n.977+7A>C c.419+7A>C n.830+7A>C c.1258+7A>C (n.1258+7A>C)	ClinVar
12	g.102840394A=	CA2059441371	PAH	c.1315+6T= (n.1315+6T=) c.1300+6T= (n.1300+6T=) n.977+6T= c.419+6T= n.830+6T= c.1258+6T= (n.1258+6T=)
12	g.102840394A>G	CA2620526764	PAH	c.1315+6T>C (n.1315+6T>C) c.1300+6T>C (n.1300+6T>C) n.977+6T>C c.419+6T>C n.830+6T>C c.1258+6T>C (n.1258+6T>C)	gnomAD v4
12	g.102840394A>T	CA229431	PAH	c.1315+6T>A (n.1315+6T>A) c.1300+6T>A (n.1300+6T>A) n.977+6T>A c.419+6T>A n.830+6T>A c.1258+6T>A (n.1258+6T>A)	ClinVar dbSNP
12	g.102840395C>A	CA2695217218	PAH	c.1315+5G>T (n.1315+5G>T) c.1300+5G>T (n.1300+5G>T) n.977+5G>T c.419+5G>T n.830+5G>T c.1258+5G>T (n.1258+5G>T)
12	g.102840395C=	CA2059441381	PAH	c.1315+5G= (n.1315+5G=) c.1300+5G= (n.1300+5G=) n.977+5G= c.419+5G= n.830+5G= c.1258+5G= (n.1258+5G=)
12	g.102840395C>G	CA16020995	PAH	c.1315+5G>C (n.1315+5G>C) c.1300+5G>C (n.1300+5G>C) n.977+5G>C c.419+5G>C n.830+5G>C c.1258+5G>C (n.1258+5G>C)	ClinVar dbSNP
12	g.102840396_102840397insGTTACACCT	CA2695217217	PAH	c.1315+5_1315+6insGTGTAACAG (n.1315+5_1315+6insGTGTAACAG) c.1300+5_1300+6insGTGTAACAG (n.1300+5_1300+6insGTGTAACAG) n.977+5_977+6insGTGTAACAG c.419+5_419+6insGTGTAACAG n.830+5_830+6insGTGTAACAG c.1258+5_1258+6insGTGTAACAG (n.1258+5_1258+6insGTGTAACAG)
12	g.102840395_102840401del	CA912973337	PAH	c.1314_1315+5del c.1299_1300+5del n.976_977+5del c.418_419+5del n.829_830+5del c.1257_1258+5del
12	g.102840395_102840401delinsCTTACTG	CA2059441378	PAH	c.1314_1315+5delinsCAGTAAG c.1299_1300+5delinsCAGTAAG n.976_977+5delinsCAGTAAG c.418_419+5delinsCAGTAAG n.829_830+5delinsCAGTAAG c.1257_1258+5delinsCAGTAAG
12	g.102840396T>C	CA229430	PAH	c.1315+4A>G (n.1315+4A>G) c.1300+4A>G (n.1300+4A>G) n.977+4A>G c.419+4A>G n.830+4A>G c.1258+4A>G (n.1258+4A>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.102840396T=	CA2059441402	PAH	c.1315+4A= (n.1315+4A=) c.1300+4A= (n.1300+4A=) n.977+4A= c.419+4A= n.830+4A= c.1258+4A= (n.1258+4A=)
12	g.102840399_102840404del	CA16020994	PAH	c.1314_1315+4del c.1299_1300+4del n.976_977+4del c.418_419+4del n.829_830+4del c.1257_1258+4del	ClinVar dbSNP
12	g.102840397T>C	CA607427186	PAH	c.1315+3A>G (n.1315+3A>G) c.1300+3A>G (n.1300+3A>G) n.977+3A>G c.419+3A>G n.830+3A>G c.1258+3A>G (n.1258+3A>G)	dbSNP gnomAD v2 gnomAD v4
12	g.102840397T=	CA2059441412	PAH	c.1315+3A= (n.1315+3A=) c.1300+3A= (n.1300+3A=) n.977+3A= c.419+3A= n.830+3A= c.1258+3A= (n.1258+3A=)
12	g.102840398A=	CA2059441420	PAH	c.1315+2T= (n.1315+2T=) c.1300+2T= (n.1300+2T=) n.977+2T= c.419+2T= n.830+2T= c.1258+2T= (n.1258+2T=)
12	g.102840398A>C	CA386492909	PAH	c.1315+2T>G (n.1315+2T>G) c.1300+2T>G (n.1300+2T>G) n.977+2T>G c.419+2T>G n.830+2T>G c.1258+2T>G (n.1258+2T>G)
12	g.102840398A>G	CA229429	PAH	c.1315+2T>C (n.1315+2T>C) c.1300+2T>C (n.1300+2T>C) n.977+2T>C c.419+2T>C n.830+2T>C c.1258+2T>C (n.1258+2T>C)	ClinVar dbSNP gnomAD v4
12	g.102840398A>T	CA386492910	PAH	c.1315+2T>A (n.1315+2T>A) c.1300+2T>A (n.1300+2T>A) n.977+2T>A c.419+2T>A n.830+2T>A c.1258+2T>A (n.1258+2T>A)	gnomAD v4
12	g.102840399C>A	CA16020993	PAH	c.1315+1G>T (n.1315+1G>T) c.1300+1G>T (n.1300+1G>T) n.977+1G>T c.419+1G>T n.830+1G>T c.1258+1G>T (n.1258+1G>T)	ClinVar dbSNP
12	g.102840399C=	CA2059441438	PAH	c.1315+1G= (n.1315+1G=) c.1300+1G= (n.1300+1G=) n.977+1G= c.419+1G= n.830+1G= c.1258+1G= (n.1258+1G=)
12	g.102840399C>G	CA386492911	PAH	c.1315+1G>C (n.1315+1G>C) c.1300+1G>C (n.1300+1G>C) n.977+1G>C c.419+1G>C n.830+1G>C c.1258+1G>C (n.1258+1G>C)
12	g.102840399C>T	CA251522	PAH	c.1315+1G>A (n.1315+1G>A) c.1300+1G>A (n.1300+1G>A) n.977+1G>A c.419+1G>A n.830+1G>A c.1258+1G>A (n.1258+1G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840400T>A	CA386492912	PAH	c.1315A>T (p.Ser439Cys) c.1300A>T (p.Ser434Cys) n.977A>T c.419A>T n.830A>T c.1258A>T (p.Ser420Cys)
12	g.102840400T>C	CA242743409	PAH	c.1315A>G (p.Ser439Gly) c.1300A>G (p.Ser434Gly) n.977A>G c.419A>G n.830A>G c.1258A>G (p.Ser420Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840400T>G	CA386492913	PAH	c.1315A>C (p.Ser439Arg) c.1300A>C (p.Ser434Arg) n.977A>C c.419A>C n.830A>C c.1258A>C (p.Ser420Arg)
12	g.102840400T=	CA2059441448	PAH	c.1315A= (p.Ser439=) c.1300A= (p.Ser434=) n.977A= c.419A= n.830A= c.1258A= (p.Ser420=)
12	g.102840401G>A	CA242743411	PAH	c.1314C>T (p.Asn438=) c.1299C>T (p.Asn433=) n.976C>T c.418C>T n.829C>T c.1257C>T (p.Asn419=)	dbSNP
12	g.102840401G>C	CA386492914	PAH	c.1314C>G (p.Asn438Lys) c.1299C>G (p.Asn433Lys) n.976C>G c.418C>G n.829C>G c.1257C>G (p.Asn419Lys)
12	g.102840401G=	CA2059441455	PAH	c.1314C= (p.Asn438=) c.1299C= (p.Asn433=) n.976C= c.418C= n.829C= c.1257C= (p.Asn419=)
12	g.102840401G>T	CA386492915	PAH	c.1314C>A (p.Asn438Lys) c.1299C>A (p.Asn433Lys) n.976C>A c.418C>A n.829C>A c.1257C>A (p.Asn419Lys)
12	g.102840402T>A	CA386492916	PAH	c.1313A>T (p.Asn438Ile) c.1298A>T (p.Asn433Ile) n.975A>T c.417A>T n.828A>T c.1256A>T (p.Asn419Ile)
12	g.102840402T>C	CA386492917	PAH	c.1313A>G (p.Asn438Ser) c.1298A>G (p.Asn433Ser) n.975A>G c.417A>G n.828A>G c.1256A>G (p.Asn419Ser)	gnomAD v4
12	g.102840402T>G	CA386492918	PAH	c.1313A>C (p.Asn438Thr) c.1298A>C (p.Asn433Thr) n.975A>C c.417A>C n.828A>C c.1256A>C (p.Asn419Thr)
12	g.102840403T>A	CA386492919	PAH	c.1312A>T (p.Asn438Tyr) c.1297A>T (p.Asn433Tyr) n.974A>T c.416A>T n.827A>T c.1255A>T (p.Asn419Tyr)
12	g.102840403T>C	CA16020992	PAH	c.1312A>G (p.Asn438Asp) c.1297A>G (p.Asn433Asp) n.974A>G c.416A>G n.827A>G c.1255A>G (p.Asn419Asp)	ClinVar dbSNP
12	g.102840403T>G	CA386492920	PAH	c.1312A>C (p.Asn438His) c.1297A>C (p.Asn433His) n.974A>C c.416A>C n.827A>C c.1255A>C (p.Asn419His)
12	g.102840403T=	CA2059441462	PAH	c.1312A= (p.Asn438=) c.1297A= (p.Asn433=) n.974A= c.416A= n.827A= c.1255A= (p.Asn419=)
12	g.102840404A>C	CA386492921	PAH	c.1311T>G (p.Ile437Met) c.1296T>G (p.Ile432Met) n.973T>G c.415T>G n.826T>G c.1254T>G (p.Ile418Met)
12	g.102840404A>G	CA481375324	PAH	c.1311T>C (p.Ile437=) c.1296T>C (p.Ile432=) n.973T>C c.415T>C n.826T>C c.1254T>C (p.Ile418=)	gnomAD v4
12	g.102840404A>T	CA481375323	PAH	c.1311T>A (p.Ile437=) c.1296T>A (p.Ile432=) n.973T>A c.415T>A n.826T>A c.1254T>A (p.Ile418=)	gnomAD v4
12	g.102840405A>C	CA386492922	PAH	c.1310T>G (p.Ile437Ser) c.1295T>G (p.Ile432Ser) n.972T>G c.414T>G n.825T>G c.1253T>G (p.Ile418Ser)
12	g.102840405A>G	CA386492923	PAH	c.1310T>C (p.Ile437Thr) c.1295T>C (p.Ile432Thr) n.972T>C c.414T>C n.825T>C c.1253T>C (p.Ile418Thr)
12	g.102840405A>T	CA386492924	PAH	c.1310T>A (p.Ile437Asn) c.1295T>A (p.Ile432Asn) n.972T>A c.414T>A n.825T>A c.1253T>A (p.Ile418Asn)
12	g.102840406T>A	CA386492925	PAH	c.1309A>T (p.Ile437Phe) c.1294A>T (p.Ile432Phe) n.971A>T c.413A>T n.824A>T c.1252A>T (p.Ile418Phe)
12	g.102840406T>C	CA386492927	PAH	c.1309A>G (p.Ile437Val) c.1294A>G (p.Ile432Val) n.971A>G c.413A>G n.824A>G c.1252A>G (p.Ile418Val)	gnomAD v4
12	g.102840406T>G	CA386492926	PAH	c.1309A>C (p.Ile437Leu) c.1294A>C (p.Ile432Leu) n.971A>C c.413A>C n.824A>C c.1252A>C (p.Ile418Leu)
12	g.102840407G>A	CA242743413	PAH	c.1308C>T (p.Ser436=) c.1293C>T (p.Ser431=) n.970C>T c.412C>T n.823C>T c.1251C>T (p.Ser417=)	dbSNP COSMIC
12	g.102840407G>C	CA481375325	PAH	c.1308C>G (p.Ser436=) c.1293C>G (p.Ser431=) n.970C>G c.412C>G n.823C>G c.1251C>G (p.Ser417=)
12	g.102840407G=	CA2059441470	PAH	c.1308C= (p.Ser436=) c.1293C= (p.Ser431=) n.970C= c.412C= n.823C= c.1251C= (p.Ser417=)
12	g.102840407G>T	CA481375326	PAH	c.1308C>A (p.Ser436=) c.1293C>A (p.Ser431=) n.970C>A c.412C>A n.823C>A c.1251C>A (p.Ser417=)
12	g.102840408G>A	CA242743415	PAH	c.1307C>T (p.Ser436Phe) c.1292C>T (p.Ser431Phe) n.969C>T c.411C>T n.822C>T c.1250C>T (p.Ser417Phe)	dbSNP
12	g.102840408G>C	CA386492928	PAH	c.1307C>G (p.Ser436Cys) c.1292C>G (p.Ser431Cys) n.969C>G c.411C>G n.822C>G c.1250C>G (p.Ser417Cys)
12	g.102840408G=	CA2059441480	PAH	c.1307C= (p.Ser436=) c.1292C= (p.Ser431=) n.969C= c.411C= n.822C= c.1250C= (p.Ser417=)
12	g.102840408G>T	CA386492929	PAH	c.1307C>A (p.Ser436Tyr) c.1292C>A (p.Ser431Tyr) n.969C>A c.411C>A n.822C>A c.1250C>A (p.Ser417Tyr)	COSMIC
12	g.102840408_102840409delinsGA	CA2059441483	PAH	c.1306_1307delinsTC (p.Ser436=) c.1291_1292delinsTC (p.Ser431=) n.968_969delinsTC c.410_411delinsTC n.821_822delinsTC c.1249_1250delinsTC (p.Ser417=)
12	g.102840409A>C	CA386492930	PAH	c.1306T>G (p.Ser436Ala) c.1291T>G (p.Ser431Ala) n.968T>G c.410T>G n.821T>G c.1249T>G (p.Ser417Ala)
12	g.102840409A>G	CA386492931	PAH	c.1306T>C (p.Ser436Pro) c.1291T>C (p.Ser431Pro) n.968T>C c.410T>C n.821T>C c.1249T>C (p.Ser417Pro)
12	g.102840409A>T	CA386492932	PAH	c.1306T>A (p.Ser436Thr) c.1291T>A (p.Ser431Thr) n.968T>A c.410T>A n.821T>A c.1249T>A (p.Ser417Thr)
12	g.102840410del	CA16020991	PAH	c.1306del (p.Ser436ProfsTer16) c.1291del (p.Ser431ProfsTer16) n.968del c.410del n.821del c.1249del (p.Ser417ProfsTer16)	ClinVar dbSNP
12	g.102840410A=	CA2059441506	PAH	c.1305T= (p.Asp435=) c.1290T= (p.Asp430=) n.967T= c.409T= n.820T= c.1248T= (p.Asp416=)
12	g.102840410A>C	CA386492933	PAH	c.1305T>G (p.Asp435Glu) c.1290T>G (p.Asp430Glu) n.967T>G c.409T>G n.820T>G c.1248T>G (p.Asp416Glu)	dbSNP
12	g.102840410A>G	CA481375328	PAH	c.1305T>C (p.Asp435=) c.1290T>C (p.Asp430=) n.967T>C c.409T>C n.820T>C c.1248T>C (p.Asp416=)	ClinVar
12	g.102840410A>T	CA6748699	PAH	c.1305T>A (p.Asp435Glu) c.1290T>A (p.Asp430Glu) n.967T>A c.409T>A n.820T>A c.1248T>A (p.Asp416Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.102840411T>A	CA386492936	PAH	c.1304A>T (p.Asp435Val) c.1289A>T (p.Asp430Val) n.966A>T c.408A>T n.819A>T c.1247A>T (p.Asp416Val)	ClinVar dbSNP gnomAD v4
12	g.102840411T>C	CA386492935	PAH	c.1304A>G (p.Asp435Gly) c.1289A>G (p.Asp430Gly) n.966A>G c.408A>G n.819A>G c.1247A>G (p.Asp416Gly)
12	g.102840411T>G	CA386492934	PAH	c.1304A>C (p.Asp435Ala) c.1289A>C (p.Asp430Ala) n.966A>C c.408A>C n.819A>C c.1247A>C (p.Asp416Ala)
12	g.102840411T=	CA2059441507	PAH	c.1304A= (p.Asp435=) c.1289A= (p.Asp430=) n.966A= c.408A= n.819A= c.1247A= (p.Asp416=)
12	g.102840412C>A	CA386492937	PAH	c.1303G>T (p.Asp435Tyr) c.1288G>T (p.Asp430Tyr) n.965G>T c.407G>T n.818G>T c.1246G>T (p.Asp416Tyr)
12	g.102840412C>G	CA386492938	PAH	c.1303G>C (p.Asp435His) c.1288G>C (p.Asp430His) n.965G>C c.407G>C n.818G>C c.1246G>C (p.Asp416His)
12	g.102840412C>T	CA386492939	PAH	c.1303G>A (p.Asp435Asn) c.1288G>A (p.Asp430Asn) n.965G>A c.407G>A n.818G>A c.1246G>A (p.Asp416Asn)
12	g.102840413A=	CA2059441508	PAH	c.1302T= (p.Ala434=) c.1287T= (p.Ala429=) n.964T= c.406T= n.817T= c.1245T= (p.Ala415=)
12	g.102840413A>C	CA481375329	PAH	c.1302T>G (p.Ala434=) c.1287T>G (p.Ala429=) n.964T>G c.406T>G n.817T>G c.1245T>G (p.Ala415=)
12	g.102840413A>G	CA481375330	PAH	c.1302T>C (p.Ala434=) c.1287T>C (p.Ala429=) n.964T>C c.406T>C n.817T>C c.1245T>C (p.Ala415=)	dbSNP gnomAD v4
12	g.102840413A>T	CA481375331	PAH	c.1302T>A (p.Ala434=) c.1287T>A (p.Ala429=) n.964T>A c.406T>A n.817T>A c.1245T>A (p.Ala415=)
12	g.102840414G>A	CA16020990	PAH	c.1301C>T (p.Ala434Val) c.1286C>T (p.Ala429Val) n.963C>T c.405C>T n.816C>T c.1244C>T (p.Ala415Val)	ClinVar dbSNP
12	g.102840414G>C	CA386492940	PAH	c.1301C>G (p.Ala434Gly) c.1286C>G (p.Ala429Gly) n.963C>G c.405C>G n.816C>G c.1244C>G (p.Ala415Gly)
12	g.102840414G=	CA2059441512	PAH	c.1301C= (p.Ala434=) c.1286C= (p.Ala429=) n.963C= c.405C= n.816C= c.1244C= (p.Ala415=)
12	g.102840414G>T	CA229427	PAH	c.1301C>A (p.Ala434Asp) c.1286C>A (p.Ala429Asp) n.963C>A c.405C>A n.816C>A c.1244C>A (p.Ala415Asp)	ClinVar dbSNP gnomAD v4
12	g.102840415C>A	CA386492941	PAH	c.1300G>T (p.Ala434Ser) c.1285G>T (p.Ala429Ser) n.962G>T c.404G>T n.815G>T c.1243G>T (p.Ala415Ser)
12	g.102840415C=	CA2059441515	PAH	c.1300G= (p.Ala434=) c.1285G= (p.Ala429=) n.962G= c.404G= n.815G= c.1243G= (p.Ala415=)
12	g.102840415C>G	CA386492942	PAH	c.1300G>C (p.Ala434Pro) c.1285G>C (p.Ala429Pro) n.962G>C c.404G>C n.815G>C c.1243G>C (p.Ala415Pro)
12	g.102840415C>T	CA386492943	PAH	c.1300G>A (p.Ala434Thr) c.1285G>A (p.Ala429Thr) n.962G>A c.404G>A n.815G>A c.1243G>A (p.Ala415Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.102840416C>A	CA386492944	PAH	c.1299G>T (p.Leu433Phe) c.1284G>T (p.Leu428Phe) n.961G>T c.403G>T n.814G>T c.1242G>T (p.Leu414Phe)
12	g.102840416C=	CA2059441517	PAH	c.1299G= (p.Leu433=) c.1284G= (p.Leu428=) n.961G= c.403G= n.814G= c.1242G= (p.Leu414=)
12	g.102840416C>G	CA386492945	PAH	c.1299G>C (p.Leu433Phe) c.1284G>C (p.Leu428Phe) n.961G>C c.403G>C n.814G>C c.1242G>C (p.Leu414Phe)
12	g.102840416C>T	CA6748700	PAH	c.1299G>A (p.Leu433=) c.1284G>A (p.Leu428=) n.961G>A c.403G>A n.814G>A c.1242G>A (p.Leu414=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840417A>C	CA386492948	PAH	c.1298T>G (p.Leu433Trp) c.1283T>G (p.Leu428Trp) n.960T>G c.402T>G n.813T>G c.1241T>G (p.Leu414Trp)
12	g.102840417A>G	CA386492946	PAH	c.1298T>C (p.Leu433Ser) c.1283T>C (p.Leu428Ser) n.960T>C c.402T>C n.813T>C c.1241T>C (p.Leu414Ser)
12	g.102840417A>T	CA386492947	PAH	c.1298T>A (p.Leu433Ter) c.1283T>A (p.Leu428Ter) n.960T>A c.402T>A n.813T>A c.1241T>A (p.Leu414Ter)
12	g.102840420dup	CA16041557	PAH	c.1298dup (p.Leu433PhefsTer3) c.1283dup (p.Leu428PhefsTer3) n.960dup c.402dup n.813dup c.1241dup (p.Leu414PhefsTer3)	ClinVar dbSNP
12	g.102840418A>C	CA386492949	PAH	c.1297T>G (p.Leu433Val) c.1282T>G (p.Leu428Val) n.959T>G c.401T>G n.812T>G c.1240T>G (p.Leu414Val)
12	g.102840418A>G	CA481375333	PAH	c.1297T>C (p.Leu433=) c.1282T>C (p.Leu428=) n.959T>C c.401T>C n.812T>C c.1240T>C (p.Leu414=)	COSMIC
12	g.102840418A>T	CA386492950	PAH	c.1297T>A (p.Leu433Met) c.1282T>A (p.Leu428Met) n.959T>A c.401T>A n.812T>A c.1240T>A (p.Leu414Met)
12	g.102840419A>C	CA386492951	PAH	c.1296T>G (p.Ile432Met) c.1281T>G (p.Ile427Met) n.958T>G c.400T>G n.811T>G c.1239T>G (p.Ile413Met)	gnomAD v4
12	g.102840419A>G	CA481375334	PAH	c.1296T>C (p.Ile432=) c.1281T>C (p.Ile427=) n.958T>C c.400T>C n.811T>C c.1239T>C (p.Ile413=)
12	g.102840419A>T	CA481375335	PAH	c.1296T>A (p.Ile432=) c.1281T>A (p.Ile427=) n.958T>A c.400T>A n.811T>A c.1239T>A (p.Ile413=)
12	g.102840420A>C	CA386492952	PAH	c.1295T>G (p.Ile432Ser) c.1280T>G (p.Ile427Ser) n.957T>G c.399T>G n.810T>G c.1238T>G (p.Ile413Ser)
12	g.102840420A>G	CA386492953	PAH	c.1295T>C (p.Ile432Thr) c.1280T>C (p.Ile427Thr) n.957T>C c.399T>C n.810T>C c.1238T>C (p.Ile413Thr)	gnomAD v4
12	g.102840420A>T	CA386492954	PAH	c.1295T>A (p.Ile432Asn) c.1280T>A (p.Ile427Asn) n.957T>A c.399T>A n.810T>A c.1238T>A (p.Ile413Asn)
12	g.102840420_102840422del	CA912973338	PAH	c.1293_1295del (p.Lys431_Ile432delinsAsn) c.1278_1280del (p.Lys426_Ile427delinsAsn) n.955_957del c.397_399del n.808_810del c.1236_1238del (p.Lys412_Ile413delinsAsn)
12	g.102840420_102840422delinsATC	CA2059441524	PAH	c.1293_1295delinsGAT (p.Lys431=) c.1278_1280delinsGAT (p.Lys426=) n.955_957delinsGAT c.397_399delinsGAT n.808_810delinsGAT c.1236_1238delinsGAT (p.Lys412=)
12	g.102840421T>A	CA386492955	PAH	c.1294A>T (p.Ile432Phe) c.1279A>T (p.Ile427Phe) n.956A>T c.398A>T n.809A>T c.1237A>T (p.Ile413Phe)
12	g.102840421T>C	CA386492956	PAH	c.1294A>G (p.Ile432Val) c.1279A>G (p.Ile427Val) n.956A>G c.398A>G n.809A>G c.1237A>G (p.Ile413Val)
12	g.102840421T>G	CA386492957	PAH	c.1294A>C (p.Ile432Leu) c.1279A>C (p.Ile427Leu) n.956A>C c.398A>C n.809A>C c.1237A>C (p.Ile413Leu)
12	g.102840422_102840423del	CA658821439	PAH	c.1293_1294del (p.Lys431AsnfsTer4) c.1278_1279del (p.Lys426AsnfsTer4) n.955_956del c.397_398del n.808_809del c.1236_1237del (p.Lys412AsnfsTer4)	ClinVar dbSNP
12	g.102840422C>A	CA386492958	PAH	c.1293G>T (p.Lys431Asn) c.1278G>T (p.Lys426Asn) n.955G>T c.397G>T n.808G>T c.1236G>T (p.Lys412Asn)	gnomAD v4
12	g.102840422C>G	CA386492959	PAH	c.1293G>C (p.Lys431Asn) c.1278G>C (p.Lys426Asn) n.955G>C c.397G>C n.808G>C c.1236G>C (p.Lys412Asn)
12	g.102840422C>T	CA481375338	PAH	c.1293G>A (p.Lys431=) c.1278G>A (p.Lys426=) n.955G>A c.397G>A n.808G>A c.1236G>A (p.Lys412=)
12	g.102840423T>A	CA386492962	PAH	c.1292A>T (p.Lys431Met) c.1277A>T (p.Lys426Met) n.954A>T c.396A>T n.807A>T c.1235A>T (p.Lys412Met)
12	g.102840423T>C	CA386492961	PAH	c.1292A>G (p.Lys431Arg) c.1277A>G (p.Lys426Arg) n.954A>G c.396A>G n.807A>G c.1235A>G (p.Lys412Arg)
12	g.102840423T>G	CA386492960	PAH	c.1292A>C (p.Lys431Thr) c.1277A>C (p.Lys426Thr) n.954A>C c.396A>C n.807A>C c.1235A>C (p.Lys412Thr)
12	g.102840424T>A	CA386492963	PAH	c.1291A>T (p.Lys431Ter) c.1276A>T (p.Lys426Ter) n.953A>T c.395A>T n.806A>T c.1234A>T (p.Lys412Ter)
12	g.102840424T>C	CA386492965	PAH	c.1291A>G (p.Lys431Glu) c.1276A>G (p.Lys426Glu) n.953A>G c.395A>G n.806A>G c.1234A>G (p.Lys412Glu)
12	g.102840424T>G	CA386492964	PAH	c.1291A>C (p.Lys431Gln) c.1276A>C (p.Lys426Gln) n.953A>C c.395A>C n.806A>C c.1234A>C (p.Lys412Gln)
12	g.102840425A=	CA2059441530	PAH	c.1290T= (p.Leu430=) c.1275T= (p.Leu425=) n.952T= c.394T= n.805T= c.1233T= (p.Leu411=)
12	g.102840425A>C	CA481375339	PAH	c.1290T>G (p.Leu430=) c.1275T>G (p.Leu425=) n.952T>G c.394T>G n.805T>G c.1233T>G (p.Leu411=)	dbSNP
12	g.102840425A>G	CA481375340	PAH	c.1290T>C (p.Leu430=) c.1275T>C (p.Leu425=) n.952T>C c.394T>C n.805T>C c.1233T>C (p.Leu411=)
12	g.102840425A>T	CA481375341	PAH	c.1290T>A (p.Leu430=) c.1275T>A (p.Leu425=) n.952T>A c.394T>A n.805T>A c.1233T>A (p.Leu411=)
12	g.102840426A=	CA2059441538	PAH	c.1289T= (p.Leu430=) c.1274T= (p.Leu425=) n.951T= c.393T= n.804T= c.1232T= (p.Leu411=)
12	g.102840426A>C	CA386492966	PAH	c.1289T>G (p.Leu430Arg) c.1274T>G (p.Leu425Arg) n.951T>G c.393T>G n.804T>G c.1232T>G (p.Leu411Arg)
12	g.102840426A>G	CA229426	PAH	c.1289T>C (p.Leu430Pro) c.1274T>C (p.Leu425Pro) n.951T>C c.393T>C n.804T>C c.1232T>C (p.Leu411Pro)	ClinVar dbSNP
12	g.102840426A>T	CA386492967	PAH	c.1289T>A (p.Leu430His) c.1274T>A (p.Leu425His) n.951T>A c.393T>A n.804T>A c.1232T>A (p.Leu411His)
12	g.102840427G>A	CA386492968	PAH	c.1288C>T (p.Leu430Phe) c.1273C>T (p.Leu425Phe) n.950C>T c.392C>T n.803C>T c.1231C>T (p.Leu411Phe)
12	g.102840427G>C	CA386492969	PAH	c.1288C>G (p.Leu430Val) c.1273C>G (p.Leu425Val) n.950C>G c.392C>G n.803C>G c.1231C>G (p.Leu411Val)
12	g.102840427G>T	CA386492970	PAH	c.1288C>A (p.Leu430Ile) c.1273C>A (p.Leu425Ile) n.950C>A c.392C>A n.803C>A c.1231C>A (p.Leu411Ile)
12	g.102840428C>A	CA386492971	PAH	c.1287G>T (p.Gln429His) c.1272G>T (p.Gln424His) n.949G>T c.391G>T n.802G>T c.1230G>T (p.Gln410His)
12	g.102840428C>G	CA386492972	PAH	c.1287G>C (p.Gln429His) c.1272G>C (p.Gln424His) n.949G>C c.391G>C n.802G>C c.1230G>C (p.Gln410His)
12	g.102840428C>T	CA481375342	PAH	c.1287G>A (p.Gln429=) c.1272G>A (p.Gln424=) n.949G>A c.391G>A n.802G>A c.1230G>A (p.Gln410=)	ClinVar dbSNP
12	g.102840429T>A	CA386492973	PAH	c.1286A>T (p.Gln429Leu) c.1271A>T (p.Gln424Leu) n.948A>T c.390A>T n.801A>T c.1229A>T (p.Gln410Leu)
12	g.102840429T>C	CA386492974	PAH	c.1286A>G (p.Gln429Arg) c.1271A>G (p.Gln424Arg) n.948A>G c.390A>G n.801A>G c.1229A>G (p.Gln410Arg)
12	g.102840429T>G	CA239743	PAH	c.1286A>C (p.Gln429Pro) c.1271A>C (p.Gln424Pro) n.948A>C c.390A>C n.801A>C c.1229A>C (p.Gln410Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.102840429T=	CA2059441543	PAH	c.1286A= (p.Gln429=) c.1271A= (p.Gln424=) n.948A= c.390A= n.801A= c.1229A= (p.Gln410=)
12	g.102840430G>A	CA6748702	PAH	c.1285C>T (p.Gln429Ter) c.1270C>T (p.Gln424Ter) n.947C>T c.389C>T n.800C>T c.1228C>T (p.Gln410Ter)	dbSNP ExAC gnomAD v2
12	g.102840430G>C	CA386492975	PAH	c.1285C>G (p.Gln429Glu) c.1270C>G (p.Gln424Glu) n.947C>G c.389C>G n.800C>G c.1228C>G (p.Gln410Glu)
12	g.102840430G=	CA2059441556	PAH	c.1285C= (p.Gln429=) c.1270C= (p.Gln424=) n.947C= c.389C= n.800C= c.1228C= (p.Gln410=)
12	g.102840430G>T	CA6748701	PAH	c.1285C>A (p.Gln429Lys) c.1270C>A (p.Gln424Lys) n.947C>A c.389C>A n.800C>A c.1228C>A (p.Gln410Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840431C>A	CA386492976	PAH	c.1284G>T (p.Gln428His) c.1269G>T (p.Gln423His) n.946G>T c.388G>T n.799G>T c.1227G>T (p.Gln409His)
12	g.102840431C>G	CA386492977	PAH	c.1284G>C (p.Gln428His) c.1269G>C (p.Gln423His) n.946G>C c.388G>C n.799G>C c.1227G>C (p.Gln409His)
12	g.102840431C>T	CA481375343	PAH	c.1284G>A (p.Gln428=) c.1269G>A (p.Gln423=) n.946G>A c.388G>A n.799G>A c.1227G>A (p.Gln409=)
12	g.102840432T>A	CA386492978	PAH	c.1283A>T (p.Gln428Leu) c.1268A>T (p.Gln423Leu) n.945A>T c.387A>T n.798A>T c.1226A>T (p.Gln409Leu)
12	g.102840432T>C	CA242743425	PAH	c.1283A>G (p.Gln428Arg) c.1268A>G (p.Gln423Arg) n.945A>G c.387A>G n.798A>G c.1226A>G (p.Gln409Arg)	dbSNP gnomAD v4
12	g.102840432T>G	CA386492979	PAH	c.1283A>C (p.Gln428Pro) c.1268A>C (p.Gln423Pro) n.945A>C c.387A>C n.798A>C c.1226A>C (p.Gln409Pro)
12	g.102840432T=	CA2059441558	PAH	c.1283A= (p.Gln428=) c.1268A= (p.Gln423=) n.945A= c.387A= n.798A= c.1226A= (p.Gln409=)
12	g.102840433G>A	CA16041558	PAH	c.1282C>T (p.Gln428Ter) c.1267C>T (p.Gln423Ter) n.944C>T c.386C>T n.797C>T c.1225C>T (p.Gln409Ter)	ClinVar dbSNP gnomAD v4
12	g.102840433G>C	CA6748703	PAH	c.1282C>G (p.Gln428Glu) c.1267C>G (p.Gln423Glu) n.944C>G c.386C>G n.797C>G c.1225C>G (p.Gln409Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840433G=	CA2059441568	PAH	c.1282C= (p.Gln428=) c.1267C= (p.Gln423=) n.944C= c.386C= n.797C= c.1225C= (p.Gln409=)
12	g.102840433G>T	CA386492980	PAH	c.1282C>A (p.Gln428Lys) c.1267C>A (p.Gln423Lys) n.944C>A c.386C>A n.797C>A c.1225C>A (p.Gln409Lys)
12	g.102840435del	CA16020989	PAH	c.1282del (p.Gln428SerfsTer24) c.1267del (p.Gln423SerfsTer24) n.944del c.386del n.797del c.1225del (p.Gln409SerfsTer24)	ClinVar dbSNP
12	g.102840434G>A	CA481375345	PAH	c.1281C>T (p.Thr427=) c.1266C>T (p.Thr422=) n.943C>T c.385C>T n.796C>T c.1224C>T (p.Thr408=)
12	g.102840434G>C	CA481375346	PAH	c.1281C>G (p.Thr427=) c.1266C>G (p.Thr422=) n.943C>G c.385C>G n.796C>G c.1224C>G (p.Thr408=)
12	g.102840434G>T	CA481375347	PAH	c.1281C>A (p.Thr427=) c.1266C>A (p.Thr422=) n.943C>A c.385C>A n.796C>A c.1224C>A (p.Thr408=)
12	g.102840435G>A	CA386492981	PAH	c.1280C>T (p.Thr427Ile) c.1265C>T (p.Thr422Ile) n.942C>T c.384C>T n.795C>T c.1223C>T (p.Thr408Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840435G>C	CA386492982	PAH	c.1280C>G (p.Thr427Ser) c.1265C>G (p.Thr422Ser) n.942C>G c.384C>G n.795C>G c.1223C>G (p.Thr408Ser)
12	g.102840435G=	CA2059441574	PAH	c.1280C= (p.Thr427=) c.1265C= (p.Thr422=) n.942C= c.384C= n.795C= c.1223C= (p.Thr408=)
12	g.102840435G>T	CA386492983	PAH	c.1280C>A (p.Thr427Asn) c.1265C>A (p.Thr422Asn) n.942C>A c.384C>A n.795C>A c.1223C>A (p.Thr408Asn)
12	g.102840436T>A	CA386492985	PAH	c.1279A>T (p.Thr427Ser) c.1264A>T (p.Thr422Ser) n.941A>T c.383A>T n.794A>T c.1222A>T (p.Thr408Ser)
12	g.102840436T>C	CA386492986	PAH	c.1279A>G (p.Thr427Ala) c.1264A>G (p.Thr422Ala) n.941A>G c.383A>G n.794A>G c.1222A>G (p.Thr408Ala)	gnomAD v4
12	g.102840436T>G	CA386492984	PAH	c.1279A>C (p.Thr427Pro) c.1264A>C (p.Thr422Pro) n.941A>C c.383A>C n.794A>C c.1222A>C (p.Thr408Pro)
12	g.102840437A=	CA2059441585	PAH	c.1278T= (p.Asn426=) c.1263T= (p.Asn421=) n.940T= c.382T= n.793T= c.1221T= (p.Asn407=)
12	g.102840437A>C	CA386492987	PAH	c.1278T>G (p.Asn426Lys) c.1263T>G (p.Asn421Lys) n.940T>G c.382T>G n.793T>G c.1221T>G (p.Asn407Lys)
12	g.102840437A>G	CA145978	PAH	c.1278T>C (p.Asn426=) c.1263T>C (p.Asn421=) n.940T>C c.382T>C n.793T>C c.1221T>C (p.Asn407=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840437A>T	CA386492988	PAH	c.1278T>A (p.Asn426Lys) c.1263T>A (p.Asn421Lys) n.940T>A c.382T>A n.793T>A c.1221T>A (p.Asn407Lys)
12	g.102840438T>A	CA386492989	PAH	c.1277A>T (p.Asn426Ile) c.1262A>T (p.Asn421Ile) n.939A>T c.381A>T n.792A>T c.1220A>T (p.Asn407Ile)
12	g.102840438T>C	CA386492990	PAH	c.1277A>G (p.Asn426Ser) c.1262A>G (p.Asn421Ser) n.939A>G c.381A>G n.792A>G c.1220A>G (p.Asn407Ser)	gnomAD v4
12	g.102840438T>G	CA386492991	PAH	c.1277A>C (p.Asn426Thr) c.1262A>C (p.Asn421Thr) n.939A>C c.381A>C n.792A>C c.1220A>C (p.Asn407Thr)
12	g.102840439T>A	CA386492994	PAH	c.1276A>T (p.Asn426Tyr) c.1261A>T (p.Asn421Tyr) n.938A>T c.380A>T n.791A>T c.1219A>T (p.Asn407Tyr)
12	g.102840439T>C	CA386492992	PAH	c.1276A>G (p.Asn426Asp) c.1261A>G (p.Asn421Asp) n.938A>G c.380A>G n.791A>G c.1219A>G (p.Asn407Asp)
12	g.102840439T>G	CA386492993	PAH	c.1276A>C (p.Asn426His) c.1261A>C (p.Asn421His) n.938A>C c.380A>C n.791A>C c.1219A>C (p.Asn407His)
12	g.102840440G>A	CA481375348	PAH	c.1275C>T (p.Asp425=) c.1260C>T (p.Asp420=) n.937C>T c.379C>T n.790C>T c.1218C>T (p.Asp406=)
12	g.102840440G>C	CA386492995	PAH	c.1275C>G (p.Asp425Glu) c.1260C>G (p.Asp420Glu) n.937C>G c.379C>G n.790C>G c.1218C>G (p.Asp406Glu)	gnomAD v4
12	g.102840440G>T	CA386492996	PAH	c.1275C>A (p.Asp425Glu) c.1260C>A (p.Asp420Glu) n.937C>A c.379C>A n.790C>A c.1218C>A (p.Asp406Glu)	COSMIC
12	g.102840441T>A	CA386492997	PAH	c.1274A>T (p.Asp425Val) c.1259A>T (p.Asp420Val) n.936A>T c.378A>T n.789A>T c.1217A>T (p.Asp406Val)
12	g.102840441T>C	CA386492998	PAH	c.1274A>G (p.Asp425Gly) c.1259A>G (p.Asp420Gly) n.936A>G c.378A>G n.789A>G c.1217A>G (p.Asp406Gly)
12	g.102840441T>G	CA386492999	PAH	c.1274A>C (p.Asp425Ala) c.1259A>C (p.Asp420Ala) n.936A>C c.378A>C n.789A>C c.1217A>C (p.Asp406Ala)
12	g.102840442C>A	CA386493000	PAH	c.1273G>T (p.Asp425Tyr) c.1258G>T (p.Asp420Tyr) n.935G>T c.377G>T n.788G>T c.1216G>T (p.Asp406Tyr)
12	g.102840442C=	CA2059441594	PAH	c.1273G= (p.Asp425=) c.1258G= (p.Asp420=) n.935G= c.377G= n.788G= c.1216G= (p.Asp406=)
12	g.102840442C>G	CA386493002	PAH	c.1273G>C (p.Asp425His) c.1258G>C (p.Asp420His) n.935G>C c.377G>C n.788G>C c.1216G>C (p.Asp406His)
12	g.102840442C>T	CA386493001	PAH	c.1273G>A (p.Asp425Asn) c.1258G>A (p.Asp420Asn) n.935G>A c.377G>A n.788G>A c.1216G>A (p.Asp406Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840443C>A	CA386493003	PAH	c.1272G>T (p.Leu424Phe) c.1257G>T (p.Leu419Phe) n.934G>T c.376G>T n.787G>T c.1215G>T (p.Leu405Phe)
12	g.102840443C>G	CA386493004	PAH	c.1272G>C (p.Leu424Phe) c.1257G>C (p.Leu419Phe) n.934G>C c.376G>C n.787G>C c.1215G>C (p.Leu405Phe)
12	g.102840443C>T	CA481375349	PAH	c.1272G>A (p.Leu424=) c.1257G>A (p.Leu419=) n.934G>A c.376G>A n.787G>A c.1215G>A (p.Leu405=)
12	g.102840444A=	CA2059441609	PAH	c.1271T= (p.Leu424=) c.1256T= (p.Leu419=) n.933T= c.375T= n.786T= c.1214T= (p.Leu405=)
12	g.102840444A>C	CA386493005	PAH	c.1271T>G (p.Leu424Trp) c.1256T>G (p.Leu419Trp) n.933T>G c.375T>G n.786T>G c.1214T>G (p.Leu405Trp)
12	g.102840444A>G	CA229424	PAH	c.1271T>C (p.Leu424Ser) c.1256T>C (p.Leu419Ser) n.933T>C c.375T>C n.786T>C c.1214T>C (p.Leu405Ser)	ClinVar dbSNP
12	g.102840444A>T	CA16020988	PAH	c.1271T>A (p.Leu424Ter) c.1256T>A (p.Leu419Ter) n.933T>A c.375T>A n.786T>A c.1214T>A (p.Leu405Ter)	ClinVar dbSNP
12	g.102840445A=	CA2059441621	PAH	c.1270T= (p.Leu424=) c.1255T= (p.Leu419=) n.932T= c.374T= n.785T= c.1213T= (p.Leu405=)
12	g.102840445A>C	CA386493006	PAH	c.1270T>G (p.Leu424Val) c.1255T>G (p.Leu419Val) n.932T>G c.374T>G n.785T>G c.1213T>G (p.Leu405Val)	dbSNP gnomAD v4
12	g.102840445A>G	CA242743432	PAH	c.1270T>C (p.Leu424=) c.1255T>C (p.Leu419=) n.932T>C c.374T>C n.785T>C c.1213T>C (p.Leu405=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840445A>T	CA386493007	PAH	c.1270T>A (p.Leu424Met) c.1255T>A (p.Leu419Met) n.932T>A c.374T>A n.785T>A c.1213T>A (p.Leu405Met)
12	g.102840446del	CA16020987	PAH	c.1269del (p.Leu424TrpfsTer28) c.1254del (p.Leu419TrpfsTer28) n.931del c.373del n.784del c.1212del (p.Leu405TrpfsTer28)
12	g.102840446G>A	CA481375350	PAH	c.1269C>T (p.Val423=) c.1254C>T (p.Val418=) n.931C>T c.373C>T n.784C>T c.1212C>T (p.Val404=)
12	g.102840446G>C	CA481375351	PAH	c.1269C>G (p.Val423=) c.1254C>G (p.Val418=) n.931C>G c.373C>G n.784C>G c.1212C>G (p.Val404=)
12	g.102840446G>T	CA481375352	PAH	c.1269C>A (p.Val423=) c.1254C>A (p.Val418=) n.931C>A c.373C>A n.784C>A c.1212C>A (p.Val404=)
12	g.102840447A>C	CA386493008	PAH	c.1268T>G (p.Val423Gly) c.1253T>G (p.Val418Gly) n.930T>G c.372T>G n.783T>G c.1211T>G (p.Val404Gly)
12	g.102840447A>G	CA386493009	PAH	c.1268T>C (p.Val423Ala) c.1253T>C (p.Val418Ala) n.930T>C c.372T>C n.783T>C c.1211T>C (p.Val404Ala)	COSMIC
12	g.102840447A>T	CA386493010	PAH	c.1268T>A (p.Val423Asp) c.1253T>A (p.Val418Asp) n.930T>A c.372T>A n.783T>A c.1211T>A (p.Val404Asp)
12	g.102840448C>A	CA386493013	PAH	c.1267G>T (p.Val423Phe) c.1252G>T (p.Val418Phe) n.929G>T c.371G>T n.782G>T c.1210G>T (p.Val404Phe)
12	g.102840448C=	CA2059441631	PAH	c.1267G= (p.Val423=) c.1252G= (p.Val418=) n.929G= c.371G= n.782G= c.1210G= (p.Val404=)
12	g.102840448C>G	CA386493012	PAH	c.1267G>C (p.Val423Leu) c.1252G>C (p.Val418Leu) n.929G>C c.371G>C n.782G>C c.1210G>C (p.Val404Leu)
12	g.102840448C>T	CA386493011	PAH	c.1267G>A (p.Val423Ile) c.1252G>A (p.Val418Ile) n.929G>A c.371G>A n.782G>A c.1210G>A (p.Val404Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840449C>A	CA386493014	PAH	c.1266G>T (p.Glu422Asp) c.1251G>T (p.Glu417Asp) n.928G>T c.370G>T n.781G>T c.1209G>T (p.Glu403Asp)
12	g.102840449C>G	CA386493015	PAH	c.1266G>C (p.Glu422Asp) c.1251G>C (p.Glu417Asp) n.928G>C c.370G>C n.781G>C c.1209G>C (p.Glu403Asp)
12	g.102840449C>T	CA481375355	PAH	c.1266G>A (p.Glu422=) c.1251G>A (p.Glu417=) n.928G>A c.370G>A n.781G>A c.1209G>A (p.Glu403=)	ClinVar
12	g.102840450T>A	CA386493016	PAH	c.1265A>T (p.Glu422Val) c.1250A>T (p.Glu417Val) n.927A>T c.369A>T n.780A>T c.1208A>T (p.Glu403Val)
12	g.102840450T>C	CA386493017	PAH	c.1265A>G (p.Glu422Gly) c.1250A>G (p.Glu417Gly) n.927A>G c.369A>G n.780A>G c.1208A>G (p.Glu403Gly)
12	g.102840450T>G	CA386493018	PAH	c.1265A>C (p.Glu422Ala) c.1250A>C (p.Glu417Ala) n.927A>C c.369A>C n.780A>C c.1208A>C (p.Glu403Ala)	dbSNP
12	g.102840450T=	CA2059441633	PAH	c.1265A= (p.Glu422=) c.1250A= (p.Glu417=) n.927A= c.369A= n.780A= c.1208A= (p.Glu403=)
12	g.102840451C>A	CA386493019	PAH	c.1264G>T (p.Glu422Ter) c.1249G>T (p.Glu417Ter) n.926G>T c.368G>T n.779G>T c.1207G>T (p.Glu403Ter)
12	g.102840451C=	CA2059441640	PAH	c.1264G= (p.Glu422=) c.1249G= (p.Glu417=) n.926G= c.368G= n.779G= c.1207G= (p.Glu403=)
12	g.102840451C>G	CA386493020	PAH	c.1264G>C (p.Glu422Gln) c.1249G>C (p.Glu417Gln) n.926G>C c.368G>C n.779G>C c.1207G>C (p.Glu403Gln)
12	g.102840451C>T	CA229422	PAH	c.1264G>A (p.Glu422Lys) c.1249G>A (p.Glu417Lys) n.926G>A c.368G>A n.779G>A c.1207G>A (p.Glu403Lys)	ClinVar dbSNP
12	g.102840452A>C	CA386493021	PAH	c.1263T>G (p.Ile421Met) c.1248T>G (p.Ile416Met) n.925T>G c.367T>G n.778T>G c.1206T>G (p.Ile402Met)
12	g.102840452A>G	CA481375357	PAH	c.1263T>C (p.Ile421=) c.1248T>C (p.Ile416=) n.925T>C c.367T>C n.778T>C c.1206T>C (p.Ile402=)
12	g.102840452A>T	CA481375358	PAH	c.1263T>A (p.Ile421=) c.1248T>A (p.Ile416=) n.925T>A c.367T>A n.778T>A c.1206T>A (p.Ile402=)
12	g.102840453A=	CA2059441646	PAH	c.1262T= (p.Ile421=) c.1247T= (p.Ile416=) n.924T= c.366T= n.777T= c.1205T= (p.Ile402=)
12	g.102840453A>C	CA16020986	PAH	c.1262T>G (p.Ile421Ser) c.1247T>G (p.Ile416Ser) n.924T>G c.366T>G n.777T>G c.1205T>G (p.Ile402Ser)	ClinVar dbSNP
12	g.102840453A>G	CA229420	PAH	c.1262T>C (p.Ile421Thr) c.1247T>C (p.Ile416Thr) n.924T>C c.366T>C n.777T>C c.1205T>C (p.Ile402Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.102840453A>T	CA386493022	PAH	c.1262T>A (p.Ile421Asn) c.1247T>A (p.Ile416Asn) n.924T>A c.366T>A n.777T>A c.1205T>A (p.Ile402Asn)
12	g.102840454T>A	CA386493023	PAH	c.1261A>T (p.Ile421Phe) c.1246A>T (p.Ile416Phe) n.923A>T c.365A>T n.776A>T c.1204A>T (p.Ile402Phe)
12	g.102840454T>C	CA386493024	PAH	c.1261A>G (p.Ile421Val) c.1246A>G (p.Ile416Val) n.923A>G c.365A>G n.776A>G c.1204A>G (p.Ile402Val)
12	g.102840454T>G	CA386493025	PAH	c.1261A>C (p.Ile421Leu) c.1246A>C (p.Ile416Leu) n.923A>C c.365A>C n.776A>C c.1204A>C (p.Ile402Leu)
12	g.102840455C>A	CA386493027	PAH	c.1260G>T (p.Arg420Ser) c.1245G>T (p.Arg415Ser) n.922G>T c.364G>T n.775G>T c.1203G>T (p.Arg401Ser)
12	g.102840455C>G	CA386493026	PAH	c.1260G>C (p.Arg420Ser) c.1245G>C (p.Arg415Ser) n.922G>C c.364G>C n.775G>C c.1203G>C (p.Arg401Ser)
12	g.102840455C>T	CA481375359	PAH	c.1260G>A (p.Arg420=) c.1245G>A (p.Arg415=) n.922G>A c.364G>A n.775G>A c.1203G>A (p.Arg401=)
12	g.102840456C>A	CA6748704	PAH	c.1259G>T (p.Arg420Met) c.1244G>T (p.Arg415Met) n.921G>T c.363G>T n.774G>T c.1202G>T (p.Arg401Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840456C=	CA2059441654	PAH	c.1259G= (p.Arg420=) c.1244G= (p.Arg415=) n.921G= c.363G= n.774G= c.1202G= (p.Arg401=)
12	g.102840456C>G	CA242743437	PAH	c.1259G>C (p.Arg420Thr) c.1244G>C (p.Arg415Thr) n.921G>C c.363G>C n.774G>C c.1202G>C (p.Arg401Thr)	ClinVar dbSNP gnomAD v4
12	g.102840456C>T	CA386493028	PAH	c.1259G>A (p.Arg420Lys) c.1244G>A (p.Arg415Lys) n.921G>A c.363G>A n.774G>A c.1202G>A (p.Arg401Lys)	COSMIC
12	g.102840457T>A	CA386493029	PAH	c.1258A>T (p.Arg420Trp) c.1243A>T (p.Arg415Trp) n.920A>T c.362A>T n.773A>T c.1201A>T (p.Arg401Trp)
12	g.102840457T>C	CA386493030	PAH	c.1258A>G (p.Arg420Gly) c.1243A>G (p.Arg415Gly) n.920A>G c.362A>G n.773A>G c.1201A>G (p.Arg401Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840457T>G	CA481375360	PAH	c.1258A>C (p.Arg420=) c.1243A>C (p.Arg415=) n.920A>C c.362A>C n.773A>C c.1201A>C (p.Arg401=)
12	g.102840457T=	CA2059441668	PAH	c.1258A= (p.Arg420=) c.1243A= (p.Arg415=) n.920A= c.362A= n.773A= c.1201A= (p.Arg401=)
12	g.102840458T>A	CA386493031	PAH	c.1257A>T (p.Gln419His) c.1242A>T (p.Gln414His) n.919A>T c.361A>T n.772A>T c.1200A>T (p.Gln400His)
12	g.102840458T>C	CA481375361	PAH	c.1257A>G (p.Gln419=) c.1242A>G (p.Gln414=) n.919A>G c.361A>G n.772A>G c.1200A>G (p.Gln400=)	ClinVar dbSNP
12	g.102840458T>G	CA386493032	PAH	c.1257A>C (p.Gln419His) c.1242A>C (p.Gln414His) n.919A>C c.361A>C n.772A>C c.1200A>C (p.Gln400His)
12	g.102840459T>A	CA386493033	PAH	c.1256A>T (p.Gln419Leu) c.1241A>T (p.Gln414Leu) n.918A>T c.360A>T n.771A>T c.1199A>T (p.Gln400Leu)
12	g.102840459T>C	CA6748705	PAH	c.1256A>G (p.Gln419Arg) c.1241A>G (p.Gln414Arg) n.918A>G c.360A>G n.771A>G c.1199A>G (p.Gln400Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840459T>G	CA16020985	PAH	c.1256A>C (p.Gln419Pro) c.1241A>C (p.Gln414Pro) n.918A>C c.360A>C n.771A>C c.1199A>C (p.Gln400Pro)
12	g.102840459T=	CA2059441678	PAH	c.1256A= (p.Gln419=) c.1241A= (p.Gln414=) n.918A= c.360A= n.771A= c.1199A= (p.Gln400=)
12	g.102840460G>A	CA386493034	PAH	c.1255C>T (p.Gln419Ter) c.1240C>T (p.Gln414Ter) n.917C>T c.359C>T n.770C>T c.1198C>T (p.Gln400Ter)	gnomAD v4
12	g.102840460G>C	CA386493035	PAH	c.1255C>G (p.Gln419Glu) c.1240C>G (p.Gln414Glu) n.917C>G c.359C>G n.770C>G c.1198C>G (p.Gln400Glu)
12	g.102840460G>T	CA386493036	PAH	c.1255C>A (p.Gln419Lys) c.1240C>A (p.Gln414Lys) n.917C>A c.359C>A n.770C>A c.1198C>A (p.Gln400Lys)	gnomAD v3 gnomAD v4
12	g.102840461G>A	CA6748706	PAH	c.1254C>T (p.Thr418=) c.1239C>T (p.Thr413=) n.916C>T c.358C>T n.769C>T c.1197C>T (p.Thr399=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.102840461G>C	CA481375362	PAH	c.1254C>G (p.Thr418=) c.1239C>G (p.Thr413=) n.916C>G c.358C>G n.769C>G c.1197C>G (p.Thr399=)
12	g.102840461G=	CA2059441682	PAH	c.1254C= (p.Thr418=) c.1239C= (p.Thr413=) n.916C= c.358C= n.769C= c.1197C= (p.Thr399=)
12	g.102840461G>T	CA481375363	PAH	c.1254C>A (p.Thr418=) c.1239C>A (p.Thr413=) n.916C>A c.358C>A n.769C>A c.1197C>A (p.Thr399=)	ClinVar dbSNP
12	g.102840462G>A	CA386493037	PAH	c.1253C>T (p.Thr418Ile) c.1238C>T (p.Thr413Ile) n.915C>T c.357C>T n.768C>T c.1196C>T (p.Thr399Ile)	ClinVar dbSNP
12	g.102840462G>C	CA386493038	PAH	c.1253C>G (p.Thr418Ser) c.1238C>G (p.Thr413Ser) n.915C>G c.357C>G n.768C>G c.1196C>G (p.Thr399Ser)
12	g.102840462G=	CA2059441688	PAH	c.1253C= (p.Thr418=) c.1238C= (p.Thr413=) n.915C= c.357C= n.768C= c.1196C= (p.Thr399=)
12	g.102840462G>T	CA16020984	PAH	c.1253C>A (p.Thr418Asn) c.1238C>A (p.Thr413Asn) n.915C>A c.357C>A n.768C>A c.1196C>A (p.Thr399Asn)	ClinVar
12	g.102840463T>A	CA386493039	PAH	c.1252A>T (p.Thr418Ser) c.1237A>T (p.Thr413Ser) n.914A>T c.356A>T n.767A>T c.1195A>T (p.Thr399Ser)
12	g.102840463T>C	CA386493040	PAH	c.1252A>G (p.Thr418Ala) c.1237A>G (p.Thr413Ala) n.914A>G c.356A>G n.767A>G c.1195A>G (p.Thr399Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.102840463T>G	CA229418	PAH	c.1252A>C (p.Thr418Pro) c.1237A>C (p.Thr413Pro) n.914A>C c.356A>C n.767A>C c.1195A>C (p.Thr399Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.102840463T=	CA2059441702	PAH	c.1252A= (p.Thr418=) c.1237A= (p.Thr413=) n.914A= c.356A= n.767A= c.1195A= (p.Thr399=)
12	g.102840464G>A	CA481375364	PAH	c.1251C>T (p.Tyr417=) c.1236C>T (p.Tyr412=) n.913C>T c.355C>T n.766C>T c.1194C>T (p.Tyr398=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.102840464G>C	CA386493041	PAH	c.1251C>G (p.Tyr417Ter) c.1236C>G (p.Tyr412Ter) n.913C>G c.355C>G n.766C>G c.1194C>G (p.Tyr398Ter)
12	g.102840464G=	CA2059441708	PAH	c.1251C= (p.Tyr417=) c.1236C= (p.Tyr412=) n.913C= c.355C= n.766C= c.1194C= (p.Tyr398=)
12	g.102840464G>T	CA386493042	PAH	c.1251C>A (p.Tyr417Ter) c.1236C>A (p.Tyr412Ter) n.913C>A c.355C>A n.766C>A c.1194C>A (p.Tyr398Ter)	COSMIC
12	g.102840465T>A	CA386493044	PAH	c.1250A>T (p.Tyr417Phe) c.1235A>T (p.Tyr412Phe) n.912A>T c.354A>T n.765A>T c.1193A>T (p.Tyr398Phe)
12	g.102840465T>C	CA16020983	PAH	c.1250A>G (p.Tyr417Cys) c.1235A>G (p.Tyr412Cys) n.912A>G c.354A>G n.765A>G c.1193A>G (p.Tyr398Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.102840465T>G	CA386493043	PAH	c.1250A>C (p.Tyr417Ser) c.1235A>C (p.Tyr412Ser) n.912A>C c.354A>C n.765A>C c.1193A>C (p.Tyr398Ser)
12	g.102840465T=	CA2059441716	PAH	c.1250A= (p.Tyr417=) c.1235A= (p.Tyr412=) n.912A= c.354A= n.765A= c.1193A= (p.Tyr398=)
12	g.102840466A=	CA2059441723	PAH	c.1249T= (p.Tyr417=) c.1234T= (p.Tyr412=) n.911T= c.353T= n.764T= c.1192T= (p.Tyr398=)
12	g.102840466A>C	CA16020982	PAH	c.1249T>G (p.Tyr417Asp) c.1234T>G (p.Tyr412Asp) n.911T>G c.353T>G n.764T>G c.1192T>G (p.Tyr398Asp)	ClinVar dbSNP
12	g.102840466A>G	CA229417	PAH	c.1249T>C (p.Tyr417His) c.1234T>C (p.Tyr412His) n.911T>C c.353T>C n.764T>C c.1192T>C (p.Tyr398His)	ClinVar dbSNP
12	g.102840466A>T	CA229415	PAH	c.1249T>A (p.Tyr417Asn) c.1234T>A (p.Tyr412Asn) n.911T>A c.353T>A n.764T>A c.1192T>A (p.Tyr398Asn)	ClinVar dbSNP
12	g.102840467T>A	CA481375365	PAH	c.1248A>T (p.Pro416=) c.1233A>T (p.Pro411=) n.910A>T c.352A>T n.763A>T c.1191A>T (p.Pro397=)
12	g.102840467T>C	CA481375366	PAH	c.1248A>G (p.Pro416=) c.1233A>G (p.Pro411=) n.910A>G c.352A>G n.763A>G c.1191A>G (p.Pro397=)	ClinVar gnomAD v4
12	g.102840467T>G	CA481375367	PAH	c.1248A>C (p.Pro416=) c.1233A>C (p.Pro411=) n.910A>C c.352A>C n.763A>C c.1191A>C (p.Pro397=)	ClinVar dbSNP gnomAD v4
12	g.102840467T=	CA2059441736	PAH	c.1248A= (p.Pro416=) c.1233A= (p.Pro411=) n.910A= c.352A= n.763A= c.1191A= (p.Pro397=)
12	g.102840467_102840468delinsGT	CA2695217219	PAH	c.1247_1248delinsAC (p.Pro416His) c.1232_1233delinsAC (p.Pro411His) n.909_910delinsAC c.351_352delinsAC n.762_763delinsAC c.1190_1191delinsAC (p.Pro397His)
12	g.102840468G>A	CA386493045	PAH	c.1247C>T (p.Pro416Leu) c.1232C>T (p.Pro411Leu) n.909C>T c.351C>T n.762C>T c.1190C>T (p.Pro397Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.102840468G>C	CA386493046	PAH	c.1247C>G (p.Pro416Arg) c.1232C>G (p.Pro411Arg) n.909C>G c.351C>G n.762C>G c.1190C>G (p.Pro397Arg)
12	g.102840468G=	CA2059441746	PAH	c.1247C= (p.Pro416=) c.1232C= (p.Pro411=) n.909C= c.351C= n.762C= c.1190C= (p.Pro397=)
12	g.102840468G>T	CA16020981	PAH	c.1247C>A (p.Pro416Gln) c.1232C>A (p.Pro411Gln) n.909C>A c.351C>A n.762C>A c.1190C>A (p.Pro397Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.102840470del	CA2695217220	PAH	c.1247del (p.Pro416HisfsTer?) c.1232del (p.Pro411HisfsTer?) n.909del c.351del n.762del c.1190del (p.Pro397HisfsTer?)

Number of alleles fetched