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Gene: KRT14 & Disease: EBS, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14612	KRT14	c.373C>T	p.Arg125Cys (p.R125C)	NM_000526.5 M	SNV	P	6 +	10
66316	KRT14	c.1231_1233del	p.Glu411Del (p.E411del)	NM_000526.5 M	Del	P	4 +	1
66322	KRT14	c.1244A>G	p.Tyr415Cys (p.Y415C)	NM_000526.5 M	SNV	P	4 +	1
66358	KRT14	c.397G>T	p.Val133Leu (p.V133L)	NM_000526.5 M	SNV	P	4 +	1
66353	KRT14	c.385T>G	p.Tyr129Asp (p.Y129D)	NM_000526.5 M	SNV	P	4 +	1
66375	KRT14	c.749delA	--	NM_000526.5 M	Del	P	4 +	1
66375	KRT14	c.749del	p.Lys250fs (p.K250fs)	NM_000526.5 M	Del	P	4 +	1
66339	KRT14	c.346A>T	p.Lys116Ter (p.K116X)	NM_000526.5 M	SNV	P	4 +	1
1048024	KRT14	c.1144G>T	p.Glu382Ter (p.E382X)	NM_000526.5 M	SNV	P	4 +	1
1048026	KRT14	c.1223T>A	p.Leu408Gln (p.L408Q)	NM_000526.5 M	SNV	P	4 +	1
1048025	KRT14	c.1205T>G	p.Leu402Arg (p.L402R)	NM_000526.5 M	SNV	P	4 +	1
1048027	KRT14	c.1274+5G>C	--	NM_000526.5 M	SNV	P	4 +	1

12 Results, 20 per Page

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