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Gene: F13A1 & Disease: THPH1, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16532	F13A1	c.103G>T	p.Val35Leu (p.V35L)	NM_000129.4 M	SNV	B	3 +	8
911739	F13A1	c.1184C>T	p.Ala395Val (p.A395V)	NM_000129.4 M	SNV	LB	2 +	2
910504	F13A1	c.1861G>T	p.Ala621Ser (p.A621S)	NM_000129.4 M	SNV	VUS	3 +	0
2572140	F13A1	c.1860_1861delinsCT	p.Ala621Ser (p.A621S)	NM_000129.4 M	Indel	VUS	1 +	0

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