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Mutation Direct

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Gene: SCAPER & Disease: IDDRP, 195 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
782600	SCAPER	c.95G>A	p.Ser32Asn (p.S32N)	NM_020843.4 M	SNV	LB	1 +	2
424861	SCAPER	c.2023-2A>G	--	NM_020843.4 M	SNV	P	4 +	2
782600	SCAPER	c.95G>A	p.Ser32Asn (p.S32N)	NM_001353009.2	SNV	LB	1 +	2
	SCAPER	c.-363G>A	--	NM_001353010.2	SNV	LB	1 +	2
	SCAPER	c.-426G>A	--	NM_001353011.2	SNV	LB	1 +	2
	SCAPER	c.-308G>A	--	NM_001353012.2	SNV	LB	1 +	2
424861	SCAPER	c.1639-2A>G	--	NM_001353011.2	SNV	P	4 +	2
	SCAPER	c.1621-2A>G	--	NM_001353012.2	SNV	P	4 +	2
	SCAPER	c.2041-2A>G	--	NM_001353009.2	SNV	P	4 +	2
	SCAPER	c.1621-2A>G	--	NM_001353010.2	SNV	P	4 +	2
	SCAPER	c.1285-2A>G	--	NM_001145923.2	SNV	P	4 +	2
1327986	SCAPER	c.1A>G	p.Met1Val (p.M1V)	NM_020843.4 M	SNV	B	1 +	1
1327987	SCAPER	c.-42T>A	--	NM_020843.4 M	SNV	B	1 +	1
1676479	SCAPER	c.125-1G>A	--	NM_020843.4 M	SNV	LP	1 +	1
1727209	SCAPER	c.213T>G	p.Cys71Trp (p.C71W)	NM_020843.4 M	SNV	VUS	1 +	1
1334384	SCAPER	c.334C>T	p.Arg112Ter (p.R112X)	NM_020843.4 M	SNV	LP	1 +	1
1327985	SCAPER	c.612-4A>G	--	NM_020843.4 M	SNV	B	1 +	1
1327984	SCAPER	c.772+1881G>T	--	NM_020843.4 M	SNV	B	1 +	1
2435663	SCAPER	c.1250C>T	p.Ser417Phe (p.S417F)	NM_020843.4 M	SNV	VUS	1 +	1
2435662	SCAPER	c.1382A>T	p.Asp461Val (p.D461V)	NM_020843.4 M	SNV	VUS	1 +	1

195 Results, 20 per Page

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