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Gene: PAH & Disease: HPABH4A, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
628	PAH	c.1139C>T	p.Thr380Met (p.T380M)	NM_000277.3 M	SNV	P	2 +	43
628	PAH	c.1139C>T	p.Thr380Met (p.T380M)	NM_001354304.2	SNV	P	2 +	43
102706	PAH	c.506G>A	p.Arg169His (p.R169H)	NM_000277.3 M	SNV	P	2 +	20
102706	PAH	c.506G>A	p.Arg169His (p.R169H)	NM_001354304.2	SNV	P	2 +	20
631	PAH	c.527G>T	p.Arg176Leu (p.R176L)	NM_000277.3 M	SNV	P	2 +	14
631	PAH	c.527G>T	p.Arg176Leu (p.R176L)	NM_001354304.2	SNV	P	2 +	14
102766	PAH	c.631C>A	p.Pro211Thr (p.P211T)	NM_000277.3 M	SNV	P	2 +	12
102766	PAH	c.631C>A	p.Pro211Thr (p.P211T)	NM_001354304.2	SNV	P	2 +	12
102677	PAH	c.442-5C>G	--	NM_000277.3 M	SNV	P	2 +	11
102698	PAH	c.490A>G	p.Ile164Val (p.I164V)	NM_000277.3 M	SNV	P	2 +	11
102677	PAH	c.442-5C>G	--	NM_001354304.2	SNV	P	2 +	11
102698	PAH	c.490A>G	p.Ile164Val (p.I164V)	NM_001354304.2	SNV	P	2 +	11

12 Results, 20 per Page

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