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Gene: SLC12A2 & Disease: DFNA78, 73 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1659746	SLC12A2	c.102G>A	p.Leu34= (p.L34=)	NM_001046.3 M	SNV	LB	3 +	2
804310	SLC12A2	c.2935G>A	p.Glu979Lys (p.E979K)	NM_001046.3 M	SNV	P	1 +	2
1659746	SLC12A2	c.102G>A	p.Leu34= (p.L34=)	NM_001256461.2	SNV	LB	3 +	2
804310	SLC12A2	c.2930-1457G>A	--	NM_001256461.2	SNV	P	1 +	2
804307	SLC12A2	c.2941G>T	p.Asp981Tyr (p.D981Y)	NM_001046.3 M	SNV	P	1 +	1
804308	SLC12A2	c.2930-2A>G	--	NM_001046.3 M	SNV	P	1 +	1
804309	SLC12A2	c.2962C>A	p.Pro988Thr (p.P988T)	NM_001046.3 M	SNV	P	1 +	1
984668	SLC12A2	c.2938G>A	p.Glu980Lys (p.E980K)	NM_001046.3 M	SNV	P	1 +	1
1476334	SLC12A2	c.1127A>G	p.Asn376Ser (p.N376S)	NM_001046.3 M	SNV	VUS	3 +	1
804307	SLC12A2	c.2930-1451G>T	--	NM_001256461.2	SNV	P	1 +	1
804308	SLC12A2	c.2930-1464A>G	--	NM_001256461.2	SNV	P	1 +	1
804309	SLC12A2	c.2930-1430C>A	--	NM_001256461.2	SNV	P	1 +	1
984668	SLC12A2	c.2930-1454G>A	--	NM_001256461.2	SNV	P	1 +	1
1476334	SLC12A2	c.1127A>G	p.Asn376Ser (p.N376S)	NM_001256461.2	SNV	VUS	3 +	1
1660998	SLC12A2	c.2107+11A>G	--	NM_001046.3 M	SNV	LB	3 +	0
1532036	SLC12A2	c.261C>T	p.Ser87= (p.S87=)	NM_001046.3 M	SNV	LB	3 +	0
1652869	SLC12A2	c.876+17_876+18del	--	NM_001046.3 M	Del	LB	3 +	0
1335592	SLC12A2	c.953-7C>T	--	NM_001046.3 M	SNV	LB	3 +	0
1632597	SLC12A2	c.1773+15T>C	--	NM_001046.3 M	SNV	LB	3 +	0
1628764	SLC12A2	c.2748A>T	p.Gly916= (p.G916=)	NM_001046.3 M	SNV	LB	3 +	0

共73个结果, 每页展示20条

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