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Mutation Direct

Effortless mutation search and display tool

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Gene: POC1A & Disease: IGHD1A, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
37062	POC1A	c.241C>T	p.Arg81Ter (p.R81X)	NM_015426.5 M	SNV	P	2 +	4
	POC1A	c.241C>T	p.Arg81Ter (p.R81X)	NM_001161580.2	SNV	P	2 +	4
	POC1A	c.127C>T	p.Arg43Ter (p.R43X)	NM_001161581.2	SNV	P	2 +	4

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