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Gene: COL4A4 & Disease: Alport Syndrome, 366 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
255015	COL4A4	c.1634G>C	p.Gly545Ala (p.G545A)	NM_000092.5 M	SNV	B	2 +	12
242442	COL4A4	c.2320G>C	p.Gly774Arg (p.G774R)	NM_000092.5 M	SNV	P	7 +	10
553711	COL4A4	c.1369+1G>A	--	NM_000092.5 M	SNV	LP	4 +	9
369962	COL4A4	c.81_86del	p.27IL[1]	NM_000092.5 M	Del	LP	6 +	8
550471	COL4A4	c.2638del	p.Ala880fs (p.A880fs)	NM_000092.5 M	Del	P	6 +	8
552183	COL4A4	c.1323_1340del	p.Pro444_Leu449del	NM_000092.5 M	Del	P	5 +	7
191312	COL4A4	c.3979G>A	p.Val1327Met (p.V1327M)	NM_000092.5 M	SNV	LP	6 +	7
523324	COL4A4	c.4394G>A	p.Gly1465Asp (p.G1465D)	NM_000092.5 M	SNV	P	7 +	7
17409	COL4A4	c.4715C>T	p.Pro1572Leu (p.P1572L)	NM_000092.5 M	SNV	P	5 +	7
255027	COL4A4	c.2996G>A	p.Gly999Glu (p.G999E)	NM_000092.5 M	SNV	B	2 +	6
562437	COL4A4	c.489+1G>A	--	NM_000092.5 M	SNV	P	5 +	5
555077	COL4A4	c.1030-2A>C	--	NM_000092.5 M	SNV	LP	4 +	5
449549	COL4A4	c.2906C>G	p.Ser969Ter (p.S969X)	NM_000092.5 M	SNV	P	6 +	5
17407	COL4A4	c.4129C>T	p.Arg1377Ter (p.R1377X)	NM_000092.5 M	SNV	P	6 +	5
447189	COL4A4	c.4760C>G	p.Pro1587Arg (p.P1587R)	NM_000092.5 M	SNV	LB	1 +	5
255044	COL4A4	c.5016A>G	p.Glu1672= (p.E1672=)	NM_000092.5 M	SNV	LB	2 +	4
1066915	COL4A4	c.559-2A>G	--	NM_000092.5 M	SNV	LP	5 +	4
554189	COL4A4	c.975+1G>A	--	NM_000092.5 M	SNV	LP	5 +	4
817981	COL4A4	c.2219dup	p.Val741fs (p.V741fs)	NM_000092.5 M	Dup	P	5 +	4
988149	COL4A4	c.2752G>A	p.Gly918Arg (p.G918R)	NM_000092.5 M	SNV	P	4 +	4

366 Results, 20 per Page

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