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Mutation Direct

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Gene: COL4A4 & Disease: ATS3A, 500 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
948311	COL4A4	c.1402C>T	p.Gln468Ter (p.Q468X)	NM_000092.5 M	SNV	P	3 +	10
242442	COL4A4	c.2320G>C	p.Gly774Arg (p.G774R)	NM_000092.5 M	SNV	P	7 +	10
964465	COL4A4	c.3704del	p.Pro1235fs (p.P1235fs)	NM_000092.5 M	Del	P	5 +	10
557998	COL4A4	c.4623C>G	p.Tyr1541Ter (p.Y1541X)	NM_000092.5 M	SNV	P	4 +	10
553711	COL4A4	c.1369+1G>A	--	NM_000092.5 M	SNV	LP	4 +	9
555547	COL4A4	c.1696+1G>T	--	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
553870	COL4A4	c.1405G>T	p.Gly469Ter (p.G469X)	NM_000092.5 M	SNV	P	4 +	6
2444225	COL4A4	c.1459+1G>A	--	NM_000092.5 M	SNV	P	3 +	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
1333430	COL4A4	c.1099+1G>T	--	NM_000092.5 M	SNV	P	3 +	5
562375	COL4A4	c.2545+2T>G	--	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
17405	COL4A4	c.3713C>A	p.Ser1238Ter (p.S1238X)	NM_000092.5 M	SNV	P	4 +	5

500 Results, 20 per Page

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