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Gene: KRT10 & Disease: EHK1, 45 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14573	KRT10	c.467G>A	p.Arg156His (p.R156H)	NM_000421.5 M	SNV	P	2 +	9
14576	KRT10	c.466C>T	p.Arg156Cys (p.R156C)	NM_000421.5 M	SNV	P	6 +	9
14573	KRT10	c.467G>A	p.Arg156His (p.R156H)	NM_001379366.1	SNV	P	2 +	9
14576	KRT10	c.466C>T	p.Arg156Cys (p.R156C)	NM_001379366.1	SNV	P	6 +	9
14579	KRT10	c.449T>C	p.Met150Thr (p.M150T)	NM_000421.5 M	SNV	P	2 +	5
14579	KRT10	c.449T>C	p.Met150Thr (p.M150T)	NM_001379366.1	SNV	P	2 +	5
1300082	KRT10	c.1459C>T	p.His487Tyr (p.H487Y)	NM_000421.5 M	SNV	B	5 +	2
66171	KRT10	c.376G>A	p.Gly126Ser (p.G126S)	NM_000421.5 M	SNV	LB	5 +	2
1049274	KRT10	c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3]	p.556GYGGGSSSGG[3]	NM_000421.5 M	MS	VUS	5 +	2
516735	KRT10	c.1654_1683dup	p.Gly556_Gly565dup	NM_000421.5 M	Dup	LB	5 +	2
1300082	KRT10	c.1459C>T	p.His487Tyr (p.H487Y)	NM_001379366.1	SNV	B	5 +	2
66171	KRT10	c.376G>A	p.Gly126Ser (p.G126S)	NM_001379366.1	SNV	LB	5 +	2
1049274	KRT10	c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3]	p.556GYGGGSSSGG[3]	NM_001379366.1	MS	VUS	5 +	2
516735	KRT10	c.1654_1683dup	p.Gly556_Gly565dup	NM_001379366.1	Dup	LB	5 +	2
1186831	KRT10	c.49GGA[9]	p.Gly24Dup (p.G24dup)	NM_000421.5 M	MS	LB	5 +	1
1186831	KRT10	c.70_72dup	--	NM_000421.5 M	MS	LB	5 +	1
29764	KRT10	c.1300C>T	p.Gln434Ter (p.Q434X)	NM_000421.5 M	SNV	P	2 +	1
29765	KRT10	c.1281C>A	p.Cys427Ter (p.C427X)	NM_000421.5 M	SNV	P	2 +	1
1030782	KRT10	c.98C>T	p.Ser33Phe (p.S33F)	NM_000421.5 M	SNV	VUS	2 +	1
66159	KRT10	c.1155+5G>A	--	NM_000421.5 M	SNV	P	2 +	1

共45个结果, 每页展示20条

Comparison