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Gene: RAB28 & Disease: CORD2, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
636195	RAB28	c.55G>A	p.Gly19Arg (p.G19R)	NM_001017979.3 M	SNV	VUS	2 +	1
60755	RAB28	c.409C>T	p.Arg137Ter (p.R137X)	NM_001017979.3 M	SNV	P	2 +	1
1425324	RAB28	c.299G>A	p.Ser100Asn (p.S100N)	NM_001017979.3 M	SNV	LP	1 +	1
636195	RAB28	c.55G>A	p.Gly19Arg (p.G19R)	NM_004249.4 MP	SNV	VUS	2 +	1
60755	RAB28	c.409C>T	p.Arg137Ter (p.R137X)	NM_004249.4 MP	SNV	P	2 +	1
1425324	RAB28	c.299G>A	p.Ser100Asn (p.S100N)	NM_004249.4 MP	SNV	LP	1 +	1
636195	RAB28	c.55G>A	p.Gly19Arg (p.G19R)	NM_001159601.2	SNV	VUS	2 +	1
60755	RAB28	c.409C>T	p.Arg137Ter (p.R137X)	NM_001159601.2	SNV	P	2 +	1
1425324	RAB28	c.299G>A	p.Ser100Asn (p.S100N)	NM_001159601.2	SNV	LP	1 +	1

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