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Gene: KRT4 & Disease: WSN1, 83 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16918	KRT4	c.432CAA[2]	p.Asn146Del (p.N146del)	NM_002272.4 M	MS	P	1 +	1
16919	KRT4	c.419_420insCAA	p.Gln140delinsHisLys (p.Q140delinsHisLys)	NM_002272.4 M	Ins	P	1 +	1
16920	KRT4	c.1303G>A	p.Glu435Lys (p.E435K)	NM_002272.4 M	SNV	P	1 +	1
778637	KRT4	c.1318C>T	p.Arg440Cys (p.R440C)	NM_002272.4 M	SNV	LB	1 +	1
309679	KRT4	c.873C>T	p.Ser291= (p.S291=)	NM_002272.4 M	SNV	LB	1 +	1
309685	KRT4	c.678-3C>T	--	NM_002272.4 M	SNV	B	1 +	1
309691	KRT4	c.548A>G	p.Asn183Ser (p.N183S)	NM_002272.4 M	SNV	LB	1 +	1
309699	KRT4	c.456C>T	p.Ile152= (p.I152=)	NM_002272.4 M	SNV	LB	1 +	1
309701	KRT4	c.404C>T	p.Thr135Met (p.T135M)	NM_002272.4 M	SNV	B	1 +	1
309704	KRT4	c.306C>T	p.Pro102= (p.P102=)	NM_002272.4 M	SNV	LB	1 +	1
881697	KRT4	c.193G>A	p.Val65Met (p.V65M)	NM_002272.4 M	SNV	LB	1 +	0
881698	KRT4	c.31G>A	p.Gly11Arg (p.G11R)	NM_002272.4 M	SNV	B	1 +	0
881186	KRT4	c.983C>T	p.Ala328Val (p.A328V)	NM_002272.4 M	SNV	B	1 +	0
881187	KRT4	c.954T>C	p.Ile318= (p.I318=)	NM_002272.4 M	SNV	LB	1 +	0
881185	KRT4	c.1072C>G	p.Leu358Val (p.L358V)	NM_002272.4 M	SNV	VUS	1 +	0
882762	KRT4	c.1417A>T	p.Ser473Cys (p.S473C)	NM_002272.4 M	SNV	VUS	1 +	0
882763	KRT4	c.1386G>A	p.Val462= (p.V462=)	NM_002272.4 M	SNV	LB	1 +	0
882764	KRT4	c.1347-3C>T	--	NM_002272.4 M	SNV	VUS	1 +	0
882765	KRT4	c.1346+15A>T	--	NM_002272.4 M	SNV	LB	1 +	0
882761	KRT4	c.1441G>A	p.Gly481Arg (p.G481R)	NM_002272.4 M	SNV	VUS	1 +	0

83 Results, 20 per Page

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