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Gene: MAST1 & Disease: MCCCHCM, 31 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
690392	MAST1	c.210dup	p.Asn71fs (p.N71fs)	NM_014975.3 M	Dup	VUS	1 +	2
1805144	MAST1	c.1594G>C	p.Glu532Gln (p.E532Q)	NM_014975.3 M	SNV	LP	1 +	2
1805192	MAST1	c.865C>G	p.Leu289Val (p.L289V)	NM_014975.3 M	SNV	VUS	1 +	2
1698956	MAST1	c.1568T>C	p.Leu523Pro (p.L523P)	NM_014975.3 M	SNV	P	1 +	2
599361	MAST1	c.1549G>A	p.Gly517Ser (p.G517S)	NM_014975.3 M	SNV	P	1 +	2
773773	MAST1	c.1530C>T	p.His510= (p.H510=)	NM_014975.3 M	SNV	LB	1 +	2
1712286	MAST1	c.2311C>A	p.Pro771Thr (p.P771T)	NM_014975.3 M	SNV	VUS	1 +	1
235895	MAST1	c.278C>T	p.Ser93Leu (p.S93L)	NM_014975.3 M	SNV	LP	1 +	1
2441632	MAST1	c.2110T>C	p.Phe704Leu (p.F704L)	NM_014975.3 M	SNV	VUS	1 +	1
930256	MAST1	c.2354A>T	p.Glu785Val (p.E785V)	NM_014975.3 M	SNV	VUS	1 +	1
1065518	MAST1	c.2296T>C	p.Trp766Arg (p.W766R)	NM_014975.3 M	SNV	VUS	1 +	1
2433648	MAST1	c.2560G>C	p.Glu854Gln (p.E854Q)	NM_014975.3 M	SNV	VUS	1 +	1
2433649	MAST1	c.3451G>A	p.Gly1151Ser (p.G1151S)	NM_014975.3 M	SNV	VUS	1 +	1
2433650	MAST1	c.2660C>T	p.Ala887Val (p.A887V)	NM_014975.3 M	SNV	VUS	1 +	1
2442014	MAST1	c.1118A>T	p.Asp373Val (p.D373V)	NM_014975.3 M	SNV	VUS	1 +	1
930806	MAST1	c.1177C>T	p.His393Tyr (p.H393Y)	NM_014975.3 M	SNV	VUS	1 +	1
1342506	MAST1	c.3506C>T	p.Ser1169Leu (p.S1169L)	NM_014975.3 M	SNV	VUS	1 +	1
599358	MAST1	c.580GAG[1]	p.Glu195Del (p.E195del)	NM_014975.3 M	MS	P	1 +	1
599360	MAST1	c.832_834del	p.Leu279Del (p.L279del)	NM_014975.3 M	Del	P	1 +	1
599359	MAST1	c.826AAG[1]	p.Lys277Del (p.K277del)	NM_014975.3 M	MS	P	1 +	1

31 Results, 20 per Page

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