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Gene: CRPPA & Disease: Congenital Muscular Dystrophy-Dystroglycanopathy A7, 1039 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
156455	CRPPA	c.1105GTT[3]	p.Val372Del (p.V372del)	NM_001101426.4 M	MS	P	4 +	4
156455	CRPPA	c.1114_1116del	--	NM_001101426.4 M	MS	P	4 +	4
31561	CRPPA	c.1120-1G>T	--	NM_001101426.4 M	SNV	P	3 +	4
287941	CRPPA	c.258-1G>C	--	NM_001101426.4 M	SNV	P	3 +	4
156455	CRPPA	c.955GTT[3]	p.Val322Del (p.V322del)	NM_001101417.4	MS	P	4 +	4
156455	CRPPA	c.1000GTT[3]	p.Val337Del (p.V337del)	NM_001368197.1	MS	P	4 +	4
31561	CRPPA	c.1015-1G>T	--	NM_001368197.1	SNV	P	3 +	4
31561	CRPPA	c.970-1G>T	--	NM_001101417.4	SNV	P	3 +	4
287941	CRPPA	c.258-1G>C	--	NM_001101417.4	SNV	P	3 +	4
287941	CRPPA	c.258-1G>C	--	NM_001368197.1	SNV	P	3 +	4
959007	CRPPA	c.676T>C	p.Tyr226His (p.Y226H)	NM_001101426.4 M	SNV	LP	3 +	3
1076250	CRPPA	c.550C>T	p.Arg184Ter (p.R184X)	NM_001101426.4 M	SNV	P	3 +	3
423167	CRPPA	c.184del	p.Val62fs (p.V62fs)	NM_001101426.4 M	Del	P	3 +	3
279985	CRPPA	c.53dup	p.Ser19fs (p.S19fs)	NM_001101426.4 M	Dup	P	3 +	3
959007	CRPPA	c.676T>C	p.Tyr226His (p.Y226H)	NM_001368197.1	SNV	LP	3 +	3
959007	CRPPA	c.534+29961T>C	--	NM_001101417.4	SNV	LP	3 +	3
1076250	CRPPA	c.550C>T	p.Arg184Ter (p.R184X)	NM_001368197.1	SNV	P	3 +	3
1076250	CRPPA	c.534+29835C>T	--	NM_001101417.4	SNV	P	3 +	3
423167	CRPPA	c.184del	p.Val62fs (p.V62fs)	NM_001101417.4	Del	P	3 +	3
423167	CRPPA	c.184del	p.Val62fs (p.V62fs)	NM_001368197.1	Del	P	3 +	3

1039 Results, 20 per Page

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