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Gene: SOS1 & Disease: Noonan Syndrome and Noonan-Related Syndrome, 225 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
12872	SOS1	c.1656G>C	p.Arg552Ser (p.R552S)	NM_005633.4 M	SNV	P	6 +	21
	SOS1	c.1635G>C	p.Arg545Ser (p.R545S)	NM_001382394.1	SNV	P	6 +	21
	SOS1	c.1656G>C	p.Arg552Ser (p.R552S)	NM_001382395.1	SNV	P	6 +	21
40682	SOS1	c.1655G>C	p.Arg552Thr (p.R552T)	NM_005633.4 M	SNV	P	6 +	15
40684	SOS1	c.1656G>T	p.Arg552Ser (p.R552S)	NM_005633.4 M	SNV	P	6 +	15
40682	SOS1	c.1634G>C	p.Arg545Thr (p.R545T)	NM_001382394.1	SNV	P	6 +	15
40682	SOS1	c.1655G>C	p.Arg552Thr (p.R552T)	NM_001382395.1	SNV	P	6 +	15
40684	SOS1	c.1635G>T	p.Arg545Ser (p.R545S)	NM_001382394.1	SNV	P	6 +	15
40684	SOS1	c.1656G>T	p.Arg552Ser (p.R552S)	NM_001382395.1	SNV	P	6 +	15
40662	SOS1	c.806T>C	p.Met269Thr (p.M269T)	NM_005633.4 M	SNV	P	5 +	14
	SOS1	c.785T>C	p.Met262Thr (p.M262T)	NM_001382394.1	SNV	P	5 +	14
	SOS1	c.806T>C	p.Met269Thr (p.M269T)	NM_001382395.1	SNV	P	5 +	14
40678	SOS1	c.1642A>C	p.Ser548Arg (p.S548R)	NM_005633.4 M	SNV	P	6 +	12
	SOS1	c.1621A>C	p.Ser541Arg (p.S541R)	NM_001382394.1	SNV	P	6 +	12
	SOS1	c.1642A>C	p.Ser548Arg (p.S548R)	NM_001382395.1	SNV	P	6 +	12
40672	SOS1	c.1300G>A	p.Gly434Arg (p.G434R)	NM_005633.4 M	SNV	P	9 +	11
40681	SOS1	c.1655G>T	p.Arg552Met (p.R552M)	NM_005633.4 M	SNV	P	2 +	11
40672	SOS1	c.1279G>A	p.Gly427Arg (p.G427R)	NM_001382394.1	SNV	P	9 +	11
40672	SOS1	c.1300G>A	p.Gly434Arg (p.G434R)	NM_001382395.1	SNV	P	9 +	11
40681	SOS1	c.1634G>T	p.Arg545Met (p.R545M)	NM_001382394.1	SNV	P	2 +	11

225 Results, 20 per Page

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