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Gene: COL4A4 & Disease: Autosomal Dominant Alport Syndrome, 87 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
369962	COL4A4	c.81_86del	p.27IL[1]	NM_000092.5 M	Del	LP	6 +	8
553870	COL4A4	c.1405G>T	p.Gly469Ter (p.G469X)	NM_000092.5 M	SNV	P	4 +	6
17407	COL4A4	c.4129C>T	p.Arg1377Ter (p.R1377X)	NM_000092.5 M	SNV	P	6 +	5
557279	COL4A4	c.4599T>G	p.Tyr1533Ter (p.Y1533X)	NM_000092.5 M	SNV	P	5 +	5
242441	COL4A4	c.1321_1369+3del	--	NM_000092.5 M	Del	P	5 +	4
870358	COL4A4	c.1580del	p.Gly527fs (p.G527fs)	NM_000092.5 M	Del	P	5 +	4
635547	COL4A4	c.2171del	p.Arg724fs (p.R724fs)	NM_000092.5 M	Del	P	5 +	4
1676233	COL4A4	c.4760dup	p.Cys1588fs (p.C1588fs)	NM_000092.5 M	Dup	P	2 +	4
552827	COL4A4	c.5044C>T	p.Arg1682Trp (p.R1682W)	NM_000092.5 M	SNV	LP	5 +	4
812583	COL4A4	c.595G>T	p.Gly199Ter (p.G199X)	NM_000092.5 M	SNV	P	2 +	3
599163	COL4A4	c.735G>A	p.Pro245= (p.P245=)	NM_000092.5 M	SNV	P	3 +	3
599148	COL4A4	c.1221_1237del	p.Gly408fs (p.G408fs)	NM_000092.5 M	Del	P	2 +	3
635494	COL4A4	c.1389del	p.Asn464fs (p.N464fs)	NM_000092.5 M	Del	P	2 +	3
992388	COL4A4	c.2160_2163dup	p.Gly722fs (p.G722fs)	NM_000092.5 M	Dup	P	2 +	3
550472	COL4A4	c.2878G>A	p.Gly960Arg (p.G960R)	NM_000092.5 M	SNV	P	4 +	3
829920	COL4A4	c.4522G>A	p.Gly1508Ser (p.G1508S)	NM_000092.5 M	SNV	P	2 +	3
557146	COL4A4	c.3044G>A	p.Gly1015Glu (p.G1015E)	NM_000092.5 M	SNV	P	5 +	2
635444	COL4A4	c.481G>C	p.Gly161Arg (p.G161R)	NM_000092.5 M	SNV	P	5 +	1
974385	COL4A4	c.735+2T>C	--	NM_000092.5 M	SNV	P	4 +	1
635513	COL4A4	c.755G>T	p.Gly252Val (p.G252V)	NM_000092.5 M	SNV	P	5 +	1

87 Results, 20 per Page

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