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Gene: COL4A3 & Disease: Autosomal Dominant Alport Syndrome, 311 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
449540	COL4A3	c.4421T>C	p.Leu1474Pro (p.L1474P)	NM_000091.5 M	SNV	LP	5 +	26
287915	COL4A3	c.4981C>T	p.Arg1661Cys (p.R1661C)	NM_000091.5 M	SNV	P	6 +	18
555905	COL4A3	c.3829G>A	p.Gly1277Ser (p.G1277S)	NM_000091.5 M	SNV	LP	6 +	12
369964	COL4A3	c.2083G>A	p.Gly695Arg (p.G695R)	NM_000091.5 M	SNV	P	7 +	11
17484	COL4A3	c.4441C>T	p.Arg1481Ter (p.R1481X)	NM_000091.5 M	SNV	P	6 +	10
554855	COL4A3	c.4486C>T	p.Arg1496Ter (p.R1496X)	NM_000091.5 M	SNV	P	5 +	9
522482	COL4A3	c.1855G>A	p.Gly619Arg (p.G619R)	NM_000091.5 M	SNV	P	5 +	9
254998	COL4A3	c.4484A>G	p.Gln1495Arg (p.Q1495R)	NM_000091.5 M	SNV	LB	7 +	8
554004	COL4A3	c.345del	p.Pro116fs (p.P116fs)	NM_000091.5 M	Del	P	5 +	8
551951	COL4A3	c.2621_2622delinsT	p.Gly874fs (p.G874fs)	NM_000091.5 M	Indel	P	5 +	8
552261	COL4A3	c.4546C>T	p.Arg1516Ter (p.R1516X)	NM_000091.5 M	SNV	P	6 +	7
1064607	COL4A3	c.2881+1G>A	--	NM_000091.5 M	SNV	P	2 +	7
397514	COL4A3	c.2371C>T	p.Arg791Ter (p.R791X)	NM_000091.5 M	SNV	P	6 +	7
562427	COL4A3	c.898G>A	p.Gly300Arg (p.G300R)	NM_000091.5 M	SNV	P	4 +	7
550302	COL4A3	c.4347_4353del	p.Arg1450fs (p.R1450fs)	NM_000091.5 M	Del	P	6 +	6
554710	COL4A3	c.3210+1G>A	--	NM_000091.5 M	SNV	P	5 +	6
447169	COL4A3	c.2452G>A	p.Gly818Arg (p.G818R)	NM_000091.5 M	SNV	P	4 +	6
558496	COL4A3	c.391G>T	p.Glu131Ter (p.E131X)	NM_000091.5 M	SNV	P	6 +	6
447174	COL4A3	c.4825C>T	p.Arg1609Ter (p.R1609X)	NM_000091.5 M	SNV	P	6 +	5
550931	COL4A3	c.4803del	p.Gly1602fs (p.G1602fs)	NM_000091.5 M	Del	P	5 +	5

311 Results, 20 per Page

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