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Gene: AMPD2 & Disease: PCH, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1723362	AMPD2	c.646del	p.Leu216fs (p.L216fs)	NM_001368809.2 M	Del	P	2 +	1
	AMPD2	c.646delC	--	NM_001368809.2 M	Del	P	2 +	1
	AMPD2	c.454del	p.Leu152fs (p.L152fs)	NM_001257361.2	Del	P	2 +	1
	AMPD2	c.583del	p.Leu195fs (p.L195fs)	NM_001308170.1	Del	P	2 +	1
	AMPD2	c.646del	p.Leu216fs (p.L216fs)	NM_004037.9	Del	P	2 +	1
	AMPD2	c.565del	p.Leu189fs (p.L189fs)	NM_139156.4	Del	P	2 +	1

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