Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: AMPD2 & Disease: SPG63, 1279 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1374230	AMPD2	c.2157G>A	p.Lys719= (p.K719=)	NM_001368809.2 M	SNV	VUS	2 +	2
2031731	AMPD2	c.1408-3_1418del	--	NM_001368809.2 M	Del	LP	2 +	2
1210749	AMPD2	c.1326T>C	p.Pro442= (p.P442=)	NM_001368809.2 M	SNV	LB	2 +	2
1206911	AMPD2	c.699C>T	p.Pro233= (p.P233=)	NM_001368809.2 M	SNV	LB	2 +	2
1929940	AMPD2	c.1080+3G>A	--	NM_001368809.2 M	SNV	VUS	2 +	2
183289	AMPD2	c.1457G>A	p.Arg486Gln (p.R486Q)	NM_001368809.2 M	SNV	LP	2 +	2
1914049	AMPD2	c.861-3C>T	--	NM_001368809.2 M	SNV	VUS	2 +	2
1508575	AMPD2	c.1698+1G>A	--	NM_001368809.2 M	SNV	LP	2 +	2
2157828	AMPD2	c.353+3G>A	--	NM_001368809.2 M	SNV	VUS	2 +	2
1363406	AMPD2	c.2365C>T	p.Arg789Cys (p.R789C)	NM_001368809.2 M	SNV	VUS	2 +	2
132813	AMPD2	c.1859G>A	p.Arg620His (p.R620H)	NM_001368809.2 M	SNV	P	2 +	2
655115	AMPD2	c.178G>A	p.Asp60Asn (p.D60N)	NM_001368809.2 M	SNV	VUS	2 +	2
1374230	AMPD2	c.2094G>A	p.Lys698= (p.K698=)	NM_001308170.1	SNV	VUS	2 +	2
	AMPD2	c.2157G>A	p.Lys719= (p.K719=)	NM_004037.9	SNV	VUS	2 +	2
	AMPD2	c.1965G>A	p.Lys655= (p.K655=)	NM_001257361.2	SNV	VUS	2 +	2
	AMPD2	c.2076G>A	p.Lys692= (p.K692=)	NM_139156.4	SNV	VUS	2 +	2
2031731	AMPD2	c.1327-3_1337del	--	NM_139156.4	Del	LP	2 +	2
	AMPD2	c.1345-3_1355del	--	NM_001308170.1	Del	LP	2 +	2
	AMPD2	c.1408-3_1418del	--	NM_004037.9	Del	LP	2 +	2
	AMPD2	c.1216-3_1226del	--	NM_001257361.2	Del	LP	2 +	2

1279 Results, 20 per Page

...

Comparison