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Gene: RALA & Disease: HINCONS, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
521019	RALA	c.73G>A	p.Val25Met (p.V25M)	NM_005402.4 M	SNV	P	1 +	5
1068752	RALA	c.73G>T	p.Val25Leu (p.V25L)	NM_005402.4 M	SNV	P	1 +	1
1068753	RALA	c.389A>G	p.Asp130Gly (p.D130G)	NM_005402.4 M	SNV	P	1 +	1
1068754	RALA	c.469T>G	p.Ser157Ala (p.S157A)	NM_005402.4 M	SNV	P	1 +	1
1804032	RALA	c.472G>A	p.Ala158Thr (p.A158T)	NM_005402.4 M	SNV	LP	1 +	0
1687554	RALA	c.478A>C	p.Thr160Pro (p.T160P)	NM_005402.4 M	SNV	VUS	1 +	0
1320180	RALA	c.404_429dup	p.Asn144delinsAspArgPheLeuTer (p.N144delinsAspArgPheLeuTer)	NM_005402.4 M	Dup	LP	1 +	0
2582518	RALA	c.46A>G	p.Lys16Glu (p.K16E)	NM_005402.4 M	SNV	LP	1 +	0
2626855	RALA	c.68G>C	p.Gly23Ala (p.G23A)	NM_005402.4 M	SNV	LP	1 +	0

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