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Gene: BAP1 & Disease: KURIS, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
220780	BAP1	c.1026C>T	p.Ser342= (p.S342=)	NM_004656.4 M	SNV	LB	5 +	4
240042	BAP1	c.1147C>T	p.Arg383Cys (p.R383C)	NM_004656.4 M	SNV	LB	5 +	4
240050	BAP1	c.1729+8T>C	--	NM_004656.4 M	SNV	LB	5 +	2
1064792	BAP1	c.34C>A	p.Pro12Thr (p.P12T)	NM_004656.4 M	SNV	P	1 +	1
1173077	BAP1	c.34C>G	p.Pro12Ala (p.P12A)	NM_004656.4 M	SNV	P	1 +	1
988095	BAP1	c.271T>C	p.Cys91Arg (p.C91R)	NM_004656.4 M	SNV	P	4 +	1
1173083	BAP1	c.506A>G	p.His169Arg (p.H169R)	NM_004656.4 M	SNV	P	1 +	1
2429331	BAP1	c.687C>A	p.Asn229Lys (p.N229K)	NM_004656.4 M	SNV	LP	1 +	1
485287	BAP1	c.1201_1203delinsGAG	p.Tyr401Glu (p.Y401E)	NM_004656.4 M	Indel	VUS	4 +	1
489633	BAP1	c.340C>T	p.Arg114Cys (p.R114C)	NM_004656.4 M	SNV	LB	4 +	0
472719	BAP1	c.931+8G>A	--	NM_004656.4 M	SNV	LB	4 +	0
539908	BAP1	c.982C>G	p.Pro328Ala (p.P328A)	NM_004656.4 M	SNV	VUS	4 +	0
584648	BAP1	c.1201T>G	p.Tyr401Asp (p.Y401D)	NM_004656.4 M	SNV	VUS	4 +	0
918492	BAP1	c.1740G>C	p.Lys580Asn (p.K580N)	NM_004656.4 M	SNV	VUS	4 +	0

共14个结果, 每页展示20条

1

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