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Mutation Direct

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Gene: DSG4 & Disease: HYPT6, 222 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
235547	DSG4	c.1568C>T	p.Pro523Leu (p.P523L)	NM_177986.5 M	SNV	LB	1 +	2
2719	DSG4	c.373-32_1005+292del	--	NM_177986.5 M	Del	P	1 +	2
2723	DSG4	c.216+1G>T	--	NM_177986.5 M	SNV	P	1 +	2
2724	DSG4	c.800C>G	p.Pro267Arg (p.P267R)	NM_177986.5 M	SNV	P	1 +	2
1806042	DSG4	c.1005+1G>A	--	NM_177986.5 M	SNV	VUS	1 +	2
235547	DSG4	c.1568C>T	p.Pro523Leu (p.P523L)	NM_001134453.3	SNV	LB	1 +	2
2719	DSG4	c.373-32_1005+292del	--	NM_001134453.3	Del	P	1 +	2
2723	DSG4	c.216+1G>T	--	NM_001134453.3	SNV	P	1 +	2
2724	DSG4	c.800C>G	p.Pro267Arg (p.P267R)	NM_001134453.3	SNV	P	1 +	2
1806042	DSG4	c.1005+1G>A	--	NM_001134453.3	SNV	VUS	1 +	2
2502917	DSG4	c.968A>G	p.Asp323Gly (p.D323G)	NM_177986.5 M	SNV	P	1 +	1
2502918	DSG4	c.126_129del	p.Thr43fs (p.T43fs)	NM_177986.5 M	Del	P	1 +	1
787463	DSG4	c.2391A>C	p.Arg797= (p.R797=)	NM_177986.5 M	SNV	B	1 +	1
889353	DSG4	c.1933+12A>G	--	NM_177986.5 M	SNV	B	1 +	1
711703	DSG4	c.1128T>C	p.Val376= (p.V376=)	NM_177986.5 M	SNV	LB	1 +	1
777289	DSG4	c.460G>A	p.Ala154Thr (p.A154T)	NM_177986.5 M	SNV	LB	1 +	1
726612	DSG4	c.2795A>G	p.Asn932Ser (p.N932S)	NM_177986.5 M	SNV	LB	1 +	1
889976	DSG4	c.1278-13T>C	--	NM_177986.5 M	SNV	B	1 +	1
731257	DSG4	c.2589A>C	p.Pro863= (p.P863=)	NM_177986.5 M	SNV	LB	1 +	1
2720	DSG4	c.87del	p.Lys30fs (p.K30fs)	NM_177986.5 M	Del	P	1 +	1

222 Results, 20 per Page

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