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Gene: COL1A1 & Disease: CAFYD, 205 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
425580	COL1A1	c.1821+1G>A	--	NM_000088.4 M	SNV	P	10 +	16
425639	COL1A1	c.769G>A	p.Gly257Arg (p.G257R)	NM_000088.4 M	SNV	P	11 +	15
35920	COL1A1	c.3076C>T	p.Arg1026Ter (p.R1026X)	NM_000088.4 M	SNV	P	11 +	14
425589	COL1A1	c.3505G>A	p.Gly1169Ser (p.G1169S)	NM_000088.4 M	SNV	P	4 +	14
17312	COL1A1	c.994G>A	p.Gly332Arg (p.G332R)	NM_000088.4 M	SNV	P	10 +	11
425599	COL1A1	c.1299+1G>A	--	NM_000088.4 M	SNV	P	10 +	11
425597	COL1A1	c.1243C>T	p.Arg415Ter (p.R415X)	NM_000088.4 M	SNV	P	11 +	10
447141	COL1A1	c.2362G>A	p.Gly788Ser (p.G788S)	NM_000088.4 M	SNV	P	10 +	9
17347	COL1A1	c.3040C>T	p.Arg1014Cys (p.R1014C)	NM_000088.4 M	SNV	P	10 +	8
287320	COL1A1	c.2089C>T	p.Arg697Ter (p.R697X)	NM_000088.4 M	SNV	P	10 +	7
17285	COL1A1	c.814G>T	p.Gly272Cys (p.G272C)	NM_000088.4 M	SNV	P	4 +	7
218424	COL1A1	c.613C>G	p.Pro205Ala (p.P205A)	NM_000088.4 M	SNV	LB	8 +	7
17343	COL1A1	c.934C>T	p.Arg312Cys (p.R312C)	NM_000088.4 M	SNV	P	14 +	6
1685271	COL1A1	c.608G>A	p.Gly203Asp (p.G203D)	NM_000088.4 M	SNV	LP	2 +	6
1431093	COL1A1	c.1667del	p.Pro556fs (p.P556fs)	NM_000088.4 M	Del	P	11 +	5
1431093	COL1A1	c.1667delC	--	NM_000088.4 M	Del	P	11 +	5
1076006	COL1A1	c.288del	p.Asp97fs (p.D97fs)	NM_000088.4 M	Del	P	11 +	4
478914	COL1A1	c.3495del	p.Gly1166fs (p.G1166fs)	NM_000088.4 M	Del	P	11 +	4
512651	COL1A1	c.2167G>A	p.Ala723Thr (p.A723T)	NM_000088.4 M	SNV	LB	6 +	4
197496	COL1A1	c.3243T>C	p.Val1081= (p.V1081=)	NM_000088.4 M	SNV	LB	13 +	3

205 Results, 20 per Page

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