Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: HNF1A & Disease: Monogenic Diabetes, 658 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14927	HNF1A	c.872dup	p.Gly292fs (p.G292fs)	NM_000545.8 M	Dup	P	7 +	41
14927	HNF1A	c.872dup	p.Gly292fs (p.G292fs)	NM_001306179.2	Dup	P	7 +	41
129233	HNF1A	c.293C>T	p.Ala98Val (p.A98V)	NM_000545.8 M	SNV	LB	5 +	35
129233	HNF1A	c.293C>T	p.Ala98Val (p.A98V)	NM_001306179.2	SNV	LB	5 +	35
562373	HNF1A	c.392G>A	p.Arg131Gln (p.R131Q)	NM_000545.8 M	SNV	P	3 +	29
14931	HNF1A	c.815G>A	p.Arg272His (p.R272H)	NM_000545.8 M	SNV	P	4 +	29
562373	HNF1A	c.392G>A	p.Arg131Gln (p.R131Q)	NM_001306179.2	SNV	P	3 +	29
14931	HNF1A	c.815G>A	p.Arg272His (p.R272H)	NM_001306179.2	SNV	P	4 +	29
265436	HNF1A	c.779C>T	p.Thr260Met (p.T260M)	NM_000545.8 M	SNV	P	2 +	23
265436	HNF1A	c.779C>T	p.Thr260Met (p.T260M)	NM_001306179.2	SNV	P	2 +	23
129235	HNF1A	c.608G>A	p.Arg203His (p.R203H)	NM_000545.8 M	SNV	P	4 +	22
14928	HNF1A	c.1340C>T	p.Pro447Leu (p.P447L)	NM_000545.8 M	SNV	P	8 +	22
129235	HNF1A	c.608G>A	p.Arg203His (p.R203H)	NM_001306179.2	SNV	P	4 +	22
14928	HNF1A	c.1340C>T	p.Pro447Leu (p.P447L)	NM_001306179.2	SNV	P	8 +	22
972818	HNF1A	c.1135C>A	p.Pro379Thr (p.P379T)	NM_000545.8 M	SNV	P	3 +	21
586792	HNF1A	c.476G>A	p.Arg159Gln (p.R159Q)	NM_000545.8 M	SNV	P	3 +	21
972818	HNF1A	c.1135C>A	p.Pro379Thr (p.P379T)	NM_001306179.2	SNV	P	3 +	21
586792	HNF1A	c.476G>A	p.Arg159Gln (p.R159Q)	NM_001306179.2	SNV	P	3 +	21
420064	HNF1A	c.685C>T	p.Arg229Ter (p.R229X)	NM_000545.8 M	SNV	P	8 +	19
14948	HNF1A	c.92G>A	p.Gly31Asp (p.G31D)	NM_000545.8 M	SNV	P	9 +	19

658 Results, 20 per Page

...

Comparison