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Gene: P4HB & Disease: CLCRP1, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
189337	P4HB	c.1178A>G	p.Tyr393Cys (p.Y393C)	NM_000918.4 M	SNV	P	1 +	3
2053946	P4HB	c.1153A>G	p.Lys385Glu (p.K385E)	NM_000918.4 M	SNV	VUS	1 +	2
1165301	P4HB	c.430G>A	p.Ala144Thr (p.A144T)	NM_000918.4 M	SNV	LB	1 +	2
931909	P4HB	c.1148A>T	p.Asp383Val (p.D383V)	NM_000918.4 M	SNV	VUS	1 +	1
2412808	P4HB	c.1199_1200delinsTT	p.Cys400Phe (p.C400F)	NM_000918.4 M	Indel	VUS	1 +	1
1032489	P4HB	c.718T>C	p.Phe240Leu (p.F240L)	NM_000918.4 M	SNV	VUS	1 +	1
2434539	P4HB	c.1453G>C	p.Glu485Gln (p.E485Q)	NM_000918.4 M	SNV	VUS	1 +	1
1175197	P4HB	c.236dup	p.Leu79fs (p.L79fs)	NM_000918.4 M	Dup	LP	1 +	0
1175197	P4HB	c.236dupT	--	NM_000918.4 M	Dup	LP	1 +	0

9 Results, 20 per Page

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