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Gene: PHKA2 & Disease: GSD9A1, 256 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
10531	PHKA2	c.3614C>T	p.Pro1205Leu (p.P1205L)	NM_000292.3 M	SNV	P	2 +	10
208493	PHKA2	c.883C>T	p.Arg295Cys (p.R295C)	NM_000292.3 M	SNV	P	2 +	8
940284	PHKA2	c.3424_3425insT	p.Glu1142fs (p.E1142fs)	NM_000292.3 M	Ins	LP	2 +	7
858405	PHKA2	c.3371_3377dup	p.Val1127fs (p.V1127fs)	NM_000292.3 M	Dup	LP	2 +	7
208676	PHKA2	c.884G>A	p.Arg295His (p.R295H)	NM_000292.3 M	SNV	P	3 +	7
10538	PHKA2	c.556C>T	p.Arg186Cys (p.R186C)	NM_000292.3 M	SNV	P	2 +	5
567305	PHKA2	c.-9_2del	p.Met1fs (p.M1fs)	NM_000292.3 M	Del	LP	2 +	4
694638	PHKA2	c.918+1G>A	--	NM_000292.3 M	SNV	P	2 +	4
644261	PHKA2	c.133C>T	p.Arg45Trp (p.R45W)	NM_000292.3 M	SNV	P	2 +	4
664908	PHKA2	c.3629G>A	p.Gly1210Glu (p.G1210E)	NM_000292.3 M	SNV	LP	2 +	4
501100	PHKA2	c.3210_3212del	p.Arg1072Del (p.R1072del)	NM_000292.3 M	Del	P	2 +	4
501100	PHKA2	c.3210_3212delGAG	--	NM_000292.3 M	Del	P	2 +	4
845671	PHKA2	c.3377C>A	p.Ser1126Ter (p.S1126X)	NM_000292.3 M	SNV	P	2 +	4
653226	PHKA2	c.134G>A	p.Arg45Gln (p.R45Q)	NM_000292.3 M	SNV	P	2 +	4
526621	PHKA2	c.3336+2T>A	--	NM_000292.3 M	SNV	LP	2 +	3
526622	PHKA2	c.1493C>T	p.Pro498Leu (p.P498L)	NM_000292.3 M	SNV	VUS	2 +	3
526624	PHKA2	c.1054C>T	p.Arg352Ter (p.R352X)	NM_000292.3 M	SNV	P	2 +	3
10535	PHKA2	c.557G>A	p.Arg186His (p.R186H)	NM_000292.3 M	SNV	P	2 +	3
940531	PHKA2	c.3283-1G>C	--	NM_000292.3 M	SNV	LP	2 +	3
1067758	PHKA2	c.1A>G	p.Met1Val (p.M1V)	NM_000292.3 M	SNV	LP	2 +	3

256 Results, 20 per Page

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