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Gene: RASA1 & Disease: Basal Cell Carcinoma, Multiple, 23 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
411714	RASA1	c.613_617del	p.Leu205fs (p.L205fs)	NM_002890.3 M	Del	P	3 +	3
411714	RASA1	c.82_86del	p.Leu28fs (p.L28fs)	NM_022650.3	Del	P	3 +	3
411713	RASA1	c.3055C>T	p.Gln1019Ter (p.Q1019X)	NM_002890.3 M	SNV	P	3 +	2
213659	RASA1	c.296C>T	p.Ala99Val (p.A99V)	NM_002890.3 M	SNV	LB	4 +	2
411713	RASA1	c.2524C>T	p.Gln842Ter (p.Q842X)	NM_022650.3	SNV	P	3 +	2
565648	RASA1	c.2245C>T	p.Arg749Ter (p.R749X)	NM_002890.3 M	SNV	P	3 +	1
213660	RASA1	c.2131C>T	p.Arg711Ter (p.R711X)	NM_002890.3 M	SNV	P	3 +	1
464870	RASA1	c.656C>G	p.Ser219Ter (p.S219X)	NM_002890.3 M	SNV	P	3 +	1
565648	RASA1	c.1714C>T	p.Arg572Ter (p.R572X)	NM_022650.3	SNV	P	3 +	1
213660	RASA1	c.1600C>T	p.Arg534Ter (p.R534X)	NM_022650.3	SNV	P	3 +	1
464870	RASA1	c.125C>G	p.Ser42Ter (p.S42X)	NM_022650.3	SNV	P	3 +	1
354505	RASA1	c.224G>C	p.Gly75Ala (p.G75A)	NM_002890.3 M	SNV	LB	4 +	0
354509	RASA1	c.360C>A	p.Pro120= (p.P120=)	NM_002890.3 M	SNV	LB	4 +	0
1078218	RASA1	c.1209A>G	p.Pro403= (p.P403=)	NM_002890.3 M	SNV	LB	3 +	0
1000681	RASA1	c.239C>T	p.Ala80Val (p.A80V)	NM_002890.3 M	SNV	VUS	3 +	0
931156	RASA1	c.2925+1G>A	--	NM_002890.3 M	SNV	LP	2 +	0
2500073	RASA1	c.539+298G>A	--	NM_002890.3 M	SNV	VUS	3 +	0
1691334	RASA1	c.2462T>A	p.Ile821Lys (p.I821K)	NM_002890.3 M	SNV	VUS	3 +	0
1413094	RASA1	c.334G>A	p.Gly112Arg (p.G112R)	NM_002890.3 M	SNV	VUS	3 +	0
1078218	RASA1	c.678A>G	p.Pro226= (p.P226=)	NM_022650.3	SNV	LB	3 +	0

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