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Gene: SLC6A5 & Disease: HKPX3, 1178 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5761	SLC6A5	c.1131C>A	p.Tyr377Ter (p.Y377X)	NM_004211.5 M	SNV	P	1 +	11
5761	SLC6A5	c.429C>A	p.Tyr143Ter (p.Y143X)	NM_001318369.2	SNV	P	1 +	11
1067229	SLC6A5	c.1260+1G>T	--	NM_004211.5 M	SNV	LP	1 +	4
2079085	SLC6A5	c.1969+1G>A	--	NM_004211.5 M	SNV	P	1 +	4
1323615	SLC6A5	c.1315C>T	p.Arg439Ter (p.R439X)	NM_004211.5 M	SNV	P	1 +	4
652178	SLC6A5	c.679+1G>A	--	NM_004211.5 M	SNV	LP	1 +	4
1971213	SLC6A5	c.811+1G>T	--	NM_004211.5 M	SNV	P	1 +	4
1993983	SLC6A5	c.985+1G>A	--	NM_004211.5 M	SNV	LP	1 +	4
632158	SLC6A5	c.2070+1G>A	--	NM_004211.5 M	SNV	P	1 +	4
38371	SLC6A5	c.323del	p.Pro108fs (p.P108fs)	NM_004211.5 M	Del	P	1 +	4
2074189	SLC6A5	c.3+1G>T	--	NM_004211.5 M	SNV	LP	1 +	4
5762	SLC6A5	c.1294delinsTT	p.Val432fs (p.V432fs)	NM_004211.5 M	Indel	P	1 +	4
1067229	SLC6A5	c.558+1G>T	--	NM_001318369.2	SNV	LP	1 +	4
2079085	SLC6A5	c.1267+1G>A	--	NM_001318369.2	SNV	P	1 +	4
1323615	SLC6A5	c.613C>T	p.Arg205Ter (p.R205X)	NM_001318369.2	SNV	P	1 +	4
652178	SLC6A5	c.-23-2582G>A	--	NM_001318369.2	SNV	LP	1 +	4
1971213	SLC6A5	c.109+1G>T	--	NM_001318369.2	SNV	P	1 +	4
1993983	SLC6A5	c.283+1G>A	--	NM_001318369.2	SNV	LP	1 +	4
632158	SLC6A5	c.1368+1G>A	--	NM_001318369.2	SNV	P	1 +	4
38371	SLC6A5	c.-241del	--	NM_001318369.2	Del	P	1 +	4

共1178个结果, 每页展示20条

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