遺伝性フルクトース不耐症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000035.4(ALDOB):c.287del (p.Asn96fs)	ALDOB	Likely pathogenic	9	104192074	104192074	GT	G	criteria provided, single submitter	-
Deletion	NM_000035.4(ALDOB):c.302del (p.Lys101fs)	ALDOB	Pathogenic	9	104192059	104192059	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)	ALDOB	Pathogenic	9	104188849	104188849	A	C	criteria provided, multiple submitters, no conflicts	-