Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: ATP11A & Disease: DFNA84, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1327581	ATP11A	c.3322_3327+2dup	--	NM_015205.3 M	Dup	P	2 +	3
	ATP11A	c.3322_3327+2dup	--	NM_032189.4	Dup	P	2 +	3
	ATP11A	c.3322_3327+2dupGTCCAGGT	--	NM_032189.4	Dup	P	2 +	3
2582641	ATP11A	c.80A>G	p.Tyr27Cys (p.Y27C)	NM_015205.3 M	SNV	VUS	1 +	1
1527862	ATP11A	c.11G>A	p.Ser4Asn (p.S4N)	NM_015205.3 M	SNV	P	1 +	1
2444276	ATP11A	c.3044_3045del	p.Thr1015fs (p.T1015fs)	NM_015205.3 M	MS	LP	1 +	1
2582641	ATP11A	c.80A>G	p.Tyr27Cys (p.Y27C)	NM_001405661.1	SNV	VUS	1 +	1
	ATP11A	c.80A>G	p.Tyr27Cys (p.Y27C)	NM_001405662.1	SNV	VUS	1 +	1
	ATP11A	c.80A>G	p.Tyr27Cys (p.Y27C)	NM_001405663.1	SNV	VUS	1 +	1
	ATP11A	c.80A>G	p.Tyr27Cys (p.Y27C)	NM_032189.4	SNV	VUS	1 +	1
1527862	ATP11A	c.11G>A	p.Ser4Asn (p.S4N)	NM_032189.4	SNV	P	1 +	1
2444276	ATP11A	c.3042_3043CA[1]	p.Thr1015Serfs (p.T1015Serfs)	NM_001405661.1	MS	LP	1 +	1
	ATP11A	c.3042_3043CA[1]	p.Thr1015Serfs (p.T1015Serfs)	NM_001405662.1	MS	LP	1 +	1
	ATP11A	c.3042_3043CA[1]	p.Thr1015Serfs (p.T1015Serfs)	NM_001405663.1	MS	LP	1 +	1
	ATP11A	c.3044_3045del	p.Thr1015fs (p.T1015fs)	NM_032189.4	MS	LP	1 +	1

15 Results, 20 per Page

1

Comparison

Back to top