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Gene: DSP & Disease: EBLA, 1282 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
163237	DSP	c.273+5G>A	--	NM_004415.4 M	SNV	LB	9 +	22
	DSP	c.273+5G>A	--	NM_001319034.2	SNV	LB	9 +	22
	DSP	c.273+5G>A	--	NM_001008844.3	SNV	LB	9 +	22
16846	DSP	c.88G>A	p.Val30Met (p.V30M)	NM_004415.4 M	SNV	P	6 +	17
	DSP	c.88G>A	p.Val30Met (p.V30M)	NM_001008844.3	SNV	P	6 +	17
	DSP	c.88G>A	p.Val30Met (p.V30M)	NM_001319034.2	SNV	P	6 +	17
578291	DSP	c.6504_6507del	p.Ser2168fs (p.S2168fs)	NM_004415.4 M	Del	P	6 +	15
	DSP	c.4707_4710del	p.Ser1569fs (p.S1569fs)	NM_001008844.3	Del	P	6 +	15
	DSP	c.5175_5178del	p.Ser1725fs (p.S1725fs)	NM_001319034.2	Del	P	6 +	15
44982	DSP	c.943C>T	p.Arg315Cys (p.R315C)	NM_004415.4 M	SNV	LB	4 +	14
	DSP	c.943C>T	p.Arg315Cys (p.R315C)	NM_001008844.3	SNV	LB	4 +	14
	DSP	c.943C>T	p.Arg315Cys (p.R315C)	NM_001319034.2	SNV	LB	4 +	14
161226	DSP	c.1696G>A	p.Ala566Thr (p.A566T)	NM_004415.4 M	SNV	LB	7 +	12
	DSP	c.1696G>A	p.Ala566Thr (p.A566T)	NM_001008844.3	SNV	LB	7 +	12
	DSP	c.1696G>A	p.Ala566Thr (p.A566T)	NM_001319034.2	SNV	LB	7 +	12
44874	DSP	c.2422C>T	p.Arg808Cys (p.R808C)	NM_004415.4 M	SNV	LB	5 +	10
163236	DSP	c.269A>G	p.Gln90Arg (p.Q90R)	NM_004415.4 M	SNV	LB	4 +	10
163287	DSP	c.7916G>A	p.Arg2639Gln (p.R2639Q)	NM_004415.4 M	SNV	LB	7 +	10
44874	DSP	c.2422C>T	p.Arg808Cys (p.R808C)	NM_001008844.3	SNV	LB	5 +	10
44874	DSP	c.2422C>T	p.Arg808Cys (p.R808C)	NM_001319034.2	SNV	LB	5 +	10

1282 Results, 20 per Page

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