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Gene: ATP6V1E1 & Disease: ARCL2C, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
417760	ATP6V1E1	c.634C>T	p.Arg212Trp (p.R212W)	NM_001696.4 M	SNV	P	1 +	2
	ATP6V1E1	c.568C>T	p.Arg190Trp (p.R190W)	NM_001039366.1	SNV	P	1 +	2
	ATP6V1E1	c.544C>T	p.Arg182Trp (p.R182W)	NM_001039367.1	SNV	P	1 +	2
417759	ATP6V1E1	c.383T>C	p.Leu128Pro (p.L128P)	NM_001696.4 M	SNV	P	1 +	1
	ATP6V1E1	c.317T>C	p.Leu106Pro (p.L106P)	NM_001039366.1	SNV	P	1 +	1
	ATP6V1E1	c.293T>C	p.Leu98Pro (p.L98P)	NM_001039367.1	SNV	P	1 +	1

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