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Gene: MYLK & Disease: AAT1, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
263911	MYLK	c.399G>T	p.Gln133His (p.Q133H)	NM_053025.4 M	SNV	LB	5 +	1
	MYLK	c.-130G>T	--	NM_001321309.2	SNV	LB	5 +	1
	MYLK	c.399G>T	p.Gln133His (p.Q133H)	NM_053026.4	SNV	LB	5 +	1
	MYLK	c.399G>T	p.Gln133His (p.Q133H)	NM_053027.4	SNV	LB	5 +	1
	MYLK	c.399G>T	p.Gln133His (p.Q133H)	NM_053028.4	SNV	LB	5 +	1
496662	MYLK	c.1955C>G	p.Pro652Arg (p.P652R)	NM_053025.4 M	SNV	VUS	4 +	0
	MYLK	c.1427C>G	p.Pro476Arg (p.P476R)	NM_001321309.2	SNV	VUS	4 +	0
	MYLK	c.1748C>G	p.Pro583Arg (p.P583R)	NM_053026.4	SNV	VUS	4 +	0
	MYLK	c.1955C>G	p.Pro652Arg (p.P652R)	NM_053027.4	SNV	VUS	4 +	0
	MYLK	c.1748C>G	p.Pro583Arg (p.P583R)	NM_053028.4	SNV	VUS	4 +	0

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