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Gene: PTF1A & Disease: PAGEN2, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
299624	PTF1A	c.386C>T	p.Ala129Val (p.A129V)	NM_178161.3 M	SNV	LB	2 +	2
130054	PTF1A	c.269G>C	p.Gly90Ala (p.G90A)	NM_178161.3 M	SNV	B	3 +	1
130055	PTF1A	c.787T>C	p.Ser263Pro (p.S263P)	NM_178161.3 M	SNV	LB	5 +	1
800794	PTF1A	c.571C>A	p.Pro191Thr (p.P191T)	NM_178161.3 M	SNV	P	3 +	1
451673	PTF1A	c.44C>T	p.Ala15Val (p.A15V)	NM_178161.3 M	SNV	LB	2 +	1
299625	PTF1A	c.617G>T	p.Arg206Leu (p.R206L)	NM_178161.3 M	SNV	VUS	2 +	1
299628	PTF1A	c.*15G>A	--	NM_178161.3 M	SNV	B	2 +	1
877719	PTF1A	c.362G>A	p.Cys121Tyr (p.C121Y)	NM_178161.3 M	SNV	VUS	2 +	1
2179361	PTF1A	c.703_720del	p.Gly235_Gly240del	NM_178161.3 M	Del	VUS	2 +	1
880486	PTF1A	c.8C>T	p.Ala3Val (p.A3V)	NM_178161.3 M	SNV	VUS	2 +	1
1803846	PTF1A	c.987A>G	p.Ter329Trp (p.X329W)	NM_178161.3 M	SNV	VUS	2 +	0
2502253	PTF1A	c.673T>G	p.Leu225Val (p.L225V)	NM_178161.3 M	SNV	VUS	2 +	0

共12个结果, 每页展示20条

1

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