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Gene: AMELX & Disease: AI1E, 45 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
11142	AMELX	c.166C>A	p.Pro56Thr (p.P56T)	NM_001142.2 M	SNV	P	1 +	5
	AMELX	c.208C>A	p.Pro70Thr (p.P70T)	NM_182680.1	SNV	P	1 +	5
	AMELX	c.118C>A	p.Pro40Thr (p.P40T)	NM_182681.1	SNV	P	1 +	5
11138	AMELX	c.14_22del	p.Ile5_Ala8delinsThr	NM_001142.2 M	Del	P	1 +	3
	AMELX	c.14_22del	p.Ile5_Ala8delinsThr	NM_182680.1	Del	P	1 +	3
	AMELX	c.14_22del	p.Ile5_Ala8delinsThr	NM_182681.1	Del	P	1 +	3
11137	AMELX	c.113del	p.Pro38fs (p.P38fs)	NM_001142.2 M	Del	P	1 +	2
11139	AMELX	c.431del	p.Pro144fs (p.P144fs)	NM_001142.2 M	Del	P	1 +	2
11140	AMELX	c.110C>T	p.Thr37Ile (p.T37I)	NM_001142.2 M	SNV	P	1 +	2
11141	AMELX	c.529G>T	p.Glu177Ter (p.E177X)	NM_001142.2 M	SNV	P	1 +	2
11143	AMELX	c.499del	p.Leu167fs (p.L167fs)	NM_001142.2 M	Del	P	1 +	2
11144	AMELX	c.378del	p.Tyr127fs (p.Y127fs)	NM_001142.2 M	Del	P	1 +	2
11137	AMELX	c.155del	p.Pro52fs (p.P52fs)	NM_182680.1	Del	P	1 +	2
11137	AMELX	c.65del	p.Pro22fs (p.P22fs)	NM_182681.1	Del	P	1 +	2
11139	AMELX	c.473del	p.Pro158fs (p.P158fs)	NM_182680.1	Del	P	1 +	2
11139	AMELX	c.383del	p.Pro128fs (p.P128fs)	NM_182681.1	Del	P	1 +	2
11140	AMELX	c.152C>T	p.Thr51Ile (p.T51I)	NM_182680.1	SNV	P	1 +	2
11140	AMELX	c.62C>T	p.Thr21Ile (p.T21I)	NM_182681.1	SNV	P	1 +	2
11141	AMELX	c.571G>T	p.Glu191Ter (p.E191X)	NM_182680.1	SNV	P	1 +	2
11141	AMELX	c.481G>T	p.Glu161Ter (p.E161X)	NM_182681.1	SNV	P	1 +	2

共45个结果, 每页展示20条

Comparison