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Gene: SRSF1 & Disease: NEDFBA, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2429778	SRSF1	c.251T>G	p.Leu84Arg (p.L84R)	NM_006924.5 M	SNV	P	1 +	1
2429781	SRSF1	c.478G>A	p.Val160Met (p.V160M)	NM_006924.5 M	SNV	P	1 +	1
2429782	SRSF1	c.579dup	p.Val194fs (p.V194fs)	NM_006924.5 M	Dup	P	1 +	1
2429786	SRSF1	c.119G>T	p.Gly40Val (p.G40V)	NM_006924.5 M	SNV	P	1 +	1
1331676	SRSF1	c.71C>T	p.Pro24Leu (p.P24L)	NM_006924.5 M	SNV	P	1 +	1
2429778	SRSF1	c.251T>G	p.Leu84Arg (p.L84R)	NM_001078166.2	SNV	P	1 +	1
2429781	SRSF1	c.478G>A	p.Val160Met (p.V160M)	NM_001078166.2	SNV	P	1 +	1
2429782	SRSF1	c.*173dup	--	NM_001078166.2	Dup	P	1 +	1
2429786	SRSF1	c.119G>T	p.Gly40Val (p.G40V)	NM_001078166.2	SNV	P	1 +	1
1331676	SRSF1	c.71C>T	p.Pro24Leu (p.P24L)	NM_001078166.2	SNV	P	1 +	1

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