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Gene: CA8 & Disease: CAMRQ3, 36 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
29620	CA8	c.710G>A	p.Arg237Gln (p.R237Q)	NM_004056.6 M	SNV	P	1 +	1
17604	CA8	c.298T>C	p.Ser100Pro (p.S100P)	NM_004056.6 M	SNV	P	1 +	1
29620	CA8	c.710G>A	p.Arg237Gln (p.R237Q)	NM_001321837.2	SNV	P	1 +	1
	CA8	c.710G>A	p.Arg237Gln (p.R237Q)	NM_001321838.2	SNV	P	1 +	1
	CA8	c.614G>A	p.Arg205Gln (p.R205Q)	NM_001321839.2	SNV	P	1 +	1
17604	CA8	c.298T>C	p.Ser100Pro (p.S100P)	NM_001321837.2	SNV	P	1 +	1
	CA8	c.298T>C	p.Ser100Pro (p.S100P)	NM_001321838.2	SNV	P	1 +	1
	CA8	c.298T>C	p.Ser100Pro (p.S100P)	NM_001321839.2	SNV	P	1 +	1
931983	CA8	c.730dup	p.Gln244fs (p.Q244fs)	NM_004056.6 M	Dup	LP	1 +	0
560540	CA8	c.100+1G>A	--	NM_004056.6 M	SNV	LP	1 +	0
128540	CA8	c.327A>G	p.Glu109= (p.E109=)	NM_004056.6 M	SNV	LB	1 +	0
1192673	CA8	c.100+85T>C	--	NM_004056.6 M	SNV	B	1 +	0
1192674	CA8	c.-54A>C	--	NM_004056.6 M	SNV	B	1 +	0
1192675	CA8	c.-103T>C	--	NM_004056.6 M	SNV	B	1 +	0
522600	CA8	c.475A>T	p.Lys159Ter (p.K159X)	NM_004056.6 M	SNV	LP	1 +	0
931983	CA8	c.730dup	p.Gln244fs (p.Q244fs)	NM_001321837.2	Dup	LP	1 +	0
	CA8	c.730dup	p.Gln244fs (p.Q244fs)	NM_001321838.2	Dup	LP	1 +	0
	CA8	c.634dup	p.Gln212fs (p.Q212fs)	NM_001321839.2	Dup	LP	1 +	0
560540	CA8	c.100+1G>A	--	NM_001321839.2	SNV	LP	1 +	0
560540	CA8	c.100+1G>A	--	NM_001321837.2	SNV	LP	1 +	0

36 Results, 20 per Page

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