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Gene: AASS & Disease: HYPLYS1, 18 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5209	AASS	c.1601_1609del	p.Cys534_Glu537delinsTer	NM_005763.4 M	Del	P	1 +	2
100643	AASS	c.874A>G	p.Ile292Val (p.I292V)	NM_005763.4 M	SNV	P	1 +	1
100644	AASS	c.976_977del	p.Gln326fs (p.Q326fs)	NM_005763.4 M	Del	P	1 +	1
100646	AASS	c.194G>A	p.Arg65Gln (p.R65Q)	NM_005763.4 M	SNV	P	1 +	1
100647	AASS	c.1256T>G	p.Leu419Arg (p.L419R)	NM_005763.4 M	SNV	P	1 +	1
100645	AASS	c.1925C>G	p.Ser642Ter (p.S642X)	NM_005763.4 M	SNV	P	1 +	1
100642	AASS	c.2662+1_2662+5delinsTT	--	NM_005763.4 M	Indel	P	1 +	1
2438707	AASS	c.1733A>G	p.Tyr578Cys (p.Y578C)	NM_005763.4 M	SNV	VUS	1 +	0
1322091	AASS	c.2100T>G	p.Tyr700Ter (p.Y700X)	NM_005763.4 M	SNV	P	1 +	0
973452	AASS	c.1048G>A	p.Val350Met (p.V350M)	NM_005763.4 M	SNV	VUS	2 +	0
973464	AASS	c.1876A>G	p.Ile626Val (p.I626V)	NM_005763.4 M	SNV	VUS	2 +	0
252652	AASS	c.2762A>G	p.Gln921Arg (p.Q921R)	NM_005763.4 M	SNV	VUS	2 +	0
1030964	AASS	c.1767-1G>A	--	NM_005763.4 M	SNV	P	1 +	0
1334629	AASS	c.2196dup	p.Ala733fs (p.A733fs)	NM_005763.4 M	Dup	LP	1 +	0
1098670	AASS	c.1393C>G	p.Leu465Val (p.L465V)	NM_005763.4 M	SNV	VUS	1 +	0
1048521	AASS	c.3G>A	p.Met1Ile (p.M1I)	NM_005763.4 M	SNV	LP	1 +	0
1048522	AASS	c.395G>A	p.Arg132His (p.R132H)	NM_005763.4 M	SNV	LP	1 +	0
377290	AASS	c.1678C>T	p.Pro560Ser (p.P560S)	NM_005763.4 M	SNV	LB	1 +	0

共18个结果, 每页展示20条

1

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