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Gene: COL1A1 & Disease: OI1, 1597 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
265433	COL1A1	c.1678G>A	p.Gly560Ser (p.G560S)	NM_000088.4 M	SNV	P	3 +	19
17322	COL1A1	c.3235G>A	p.Gly1079Ser (p.G1079S)	NM_000088.4 M	SNV	P	2 +	16
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
17330	COL1A1	c.3118G>A	p.Gly1040Ser (p.G1040S)	NM_000088.4 M	SNV	P	3 +	14
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
639690	COL1A1	c.1138G>A	p.Gly380Ser (p.G380S)	NM_000088.4 M	SNV	P	3 +	13
17291	COL1A1	c.2533G>A	p.Gly845Arg (p.G845R)	NM_000088.4 M	SNV	P	3 +	13
580344	COL1A1	c.1128del	p.Gly377fs (p.G377fs)	NM_000088.4 M	Del	P	3 +	13
425612	COL1A1	c.2596G>A	p.Gly866Ser (p.G866S)	NM_000088.4 M	SNV	P	3 +	13
17312	COL1A1	c.994G>A	p.Gly332Arg (p.G332R)	NM_000088.4 M	SNV	P	10 +	11
17324	COL1A1	c.1588G>A	p.Gly530Ser (p.G530S)	NM_000088.4 M	SNV	P	3 +	11
425599	COL1A1	c.1299+1G>A	--	NM_000088.4 M	SNV	P	10 +	11
2138076	COL1A1	c.1057-2A>C	--	NM_000088.4 M	SNV	P	2 +	11
425597	COL1A1	c.1243C>T	p.Arg415Ter (p.R415X)	NM_000088.4 M	SNV	P	11 +	10
425606	COL1A1	c.2155G>A	p.Gly719Ser (p.G719S)	NM_000088.4 M	SNV	P	4 +	10
425618	COL1A1	c.3226G>A	p.Gly1076Ser (p.G1076S)	NM_000088.4 M	SNV	P	4 +	10
17320	COL1A1	c.661G>T	p.Gly221Cys (p.G221C)	NM_000088.4 M	SNV	P	2 +	9
526860	COL1A1	c.1678G>T	p.Gly560Cys (p.G560C)	NM_000088.4 M	SNV	P	2 +	9

1597 Results, 20 per Page

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