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Gene: MPL & Disease: THCYT2, 23 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14158	MPL	c.305G>C	p.Arg102Pro (p.R102P)	NM_005373.3 M	SNV	P	5 +	17
665962	MPL	c.981-1G>C	--	NM_005373.3 M	SNV	LP	4 +	9
632897	MPL	c.1653+1del	--	NM_005373.3 M	Del	P	4 +	7
632897	MPL	c.1653del	--	NM_005373.3 M	Del	P	4 +	7
135563	MPL	c.79+2T>A	--	NM_005373.3 M	SNV	P	5 +	7
14163	MPL	c.1514G>A	p.Ser505Asn (p.S505N)	NM_005373.3 M	SNV	P	4 +	7
1301356	MPL	c.367C>T	p.Arg123Ter (p.R123X)	NM_005373.3 M	SNV	P	4 +	7
1504060	MPL	c.460T>C	p.Trp154Arg (p.W154R)	NM_005373.3 M	SNV	P	4 +	5
134822	MPL	c.235_236del	p.Leu79fs (p.L79fs)	NM_005373.3 M	Del	P	4 +	5
1492963	MPL	c.1566-1G>A	--	NM_005373.3 M	SNV	LP	4 +	4
1453832	MPL	c.1431G>A	p.Trp477Ter (p.W477X)	NM_005373.3 M	SNV	P	4 +	3
14162	MPL	c.117G>T	p.Lys39Asn (p.K39N)	NM_005373.3 M	SNV	LB	4 +	3
265248	MPL	c.317C>T	p.Pro106Leu (p.P106L)	NM_005373.3 M	SNV	P	4 +	2
458371	MPL	c.212G>A	p.Arg71Gln (p.R71Q)	NM_005373.3 M	SNV	VUS	4 +	2
973650	MPL	c.1610G>A	p.Arg537Gln (p.R537Q)	NM_005373.3 M	SNV	VUS	3 +	1
134838	MPL	c.1120A>G	p.Thr374Ala (p.T374A)	NM_005373.3 M	SNV	LB	5 +	1
412015	MPL	c.173C>T	p.Ala58Val (p.A58V)	NM_005373.3 M	SNV	LB	4 +	0
134828	MPL	c.622C>A	p.Gln208Lys (p.Q208K)	NM_005373.3 M	SNV	VUS	4 +	0
582171	MPL	c.1805T>C	p.Met602Thr (p.M602T)	NM_005373.3 M	SNV	VUS	4 +	0
1032992	MPL	c.1169G>A	p.Arg390His (p.R390H)	NM_005373.3 M	SNV	VUS	3 +	0

23 Results, 20 per Page

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