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Gene: MBD5 & Disease: MAND, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
206095	MBD5	c.3842C>T	p.Thr1281Ile (p.T1281I)	NM_001378120.1 M	SNV	LP	2 +	5
206095	MBD5	c.3143C>T	p.Thr1048Ile (p.T1048I)	NM_018328.5	SNV	LP	2 +	5
198891	MBD5	c.236G>A	p.Gly79Glu (p.G79E)	NM_001378120.1 M	SNV	LP	2 +	4
198891	MBD5	c.236G>A	p.Gly79Glu (p.G79E)	NM_018328.5	SNV	LP	2 +	4
373367	MBD5	c.4066A>G	p.Met1356Val (p.M1356V)	NM_001378120.1 M	SNV	VUS	2 +	1
373367	MBD5	c.3367A>G	p.Met1123Val (p.M1123V)	NM_018328.5	SNV	VUS	2 +	1
523903	MBD5	c.1549C>T	p.Gln517Ter (p.Q517X)	NM_001378120.1 M	SNV	P	1 +	0
523903	MBD5	c.1549C>T	p.Gln517Ter (p.Q517X)	NM_018328.5	SNV	P	1 +	0

共8个结果, 每页展示20条

1

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