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Gene: COL4A1 & Disease: Col4a1 or Col4a2-Related Cerebral Small Vessel Disease, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1453677	COL4A1	c.3592G>A	p.Gly1198Arg (p.G1198R)	NM_001845.6 M	SNV	P	1 +	10
1179197	COL4A1	c.1702G>T	p.Gly568Cys (p.G568C)	NM_001845.6 M	SNV	LP	6 +	5
521435	COL4A1	c.4981C>T	p.Arg1661Cys (p.R1661C)	NM_001845.6 M	SNV	LP	2 +	4
1699317	COL4A1	c.1238C>T	p.Pro413Leu (p.P413L)	NM_001845.6 M	SNV	VUS	2 +	3
1699317	COL4A1	c.1238C>T	p.Pro413Leu (p.P413L)	NM_001303110.2	SNV	VUS	2 +	3
1805313	COL4A1	c.2626G>C	p.Gly876Arg (p.G876R)	NM_001845.6 M	SNV	P	1 +	2
1805373	COL4A1	c.4777G>A	p.Gly1593Ser (p.G1593S)	NM_001845.6 M	SNV	VUS	1 +	2
546730	COL4A1	c.4940C>T	p.Pro1647Leu (p.P1647L)	NM_001845.6 M	SNV	VUS	1 +	2
1489793	COL4A1	c.4423T>C	p.Tyr1475His (p.Y1475H)	NM_001845.6 M	SNV	VUS	1 +	2
1699178	COL4A1	c.94G>A	p.Ala32Thr (p.A32T)	NM_001845.6 M	SNV	VUS	2 +	1
1699178	COL4A1	c.94G>A	p.Ala32Thr (p.A32T)	NM_001303110.2	SNV	VUS	2 +	1

11 Results, 20 per Page

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