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Gene: TRAPPC10 & Disease: NEDMISS, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
996582	TRAPPC10	c.2786C>T	p.Pro929Leu (p.P929L)	NM_003274.5 M	SNV	P	1 +	2
996582	TRAPPC10	c.1385C>T	p.Pro462Leu (p.P462L)	NM_001351709.1	SNV	P	1 +	2
2502438	TRAPPC10	c.1512_1513insAA	p.Ala505fs (p.A505fs)	NM_003274.5 M	Ins	LP	1 +	1
2584839	TRAPPC10	c.14A>G	p.Glu5Gly (p.E5G)	NM_003274.5 M	SNV	VUS	1 +	1
2502439	TRAPPC10	c.940C>T	p.Gln314Ter (p.Q314X)	NM_003274.5 M	SNV	LP	1 +	1
2502438	TRAPPC10	c.111_112insAA	p.Ala38fs (p.A38fs)	NM_001351709.1	Ins	LP	1 +	1

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