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Gene: PSAP & Disease: KRB, 24 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
258809	PSAP	c.1350+5G>A	--	NM_002778.4 M	SNV	LB	8 +	2
258810	PSAP	c.1380C>T	p.Pro460= (p.P460=)	NM_002778.4 M	SNV	LB	5 +	2
300524	PSAP	c.570G>T	p.Gln190His (p.Q190H)	NM_002778.4 M	SNV	LB	6 +	2
94085	PSAP	c.1351-14A>G	--	NM_002778.4 M	SNV	LB	6 +	2
258809	PSAP	c.1356+5G>A	--	NM_001042466.3	SNV	LB	8 +	2
258809	PSAP	c.1359+5G>A	--	NM_001042465.3	SNV	LB	8 +	2
258810	PSAP	c.1389C>T	p.Pro463= (p.P463=)	NM_001042465.3	SNV	LB	5 +	2
258810	PSAP	c.1386C>T	p.Pro462= (p.P462=)	NM_001042466.3	SNV	LB	5 +	2
300524	PSAP	c.570G>T	p.Gln190His (p.Q190H)	NM_001042466.3	SNV	LB	6 +	2
300524	PSAP	c.570G>T	p.Gln190His (p.Q190H)	NM_001042465.3	SNV	LB	6 +	2
94085	PSAP	c.1357-14A>G	--	NM_001042466.3	SNV	LB	6 +	2
94085	PSAP	c.1360-14A>G	--	NM_001042465.3	SNV	LB	6 +	2
300509	PSAP	c.1452G>A	p.Ser484= (p.S484=)	NM_002778.4 M	SNV	B	5 +	1
300516	PSAP	c.1056C>T	p.Ser352= (p.S352=)	NM_002778.4 M	SNV	LB	6 +	1
300533	PSAP	c.167C>G	p.Pro56Arg (p.P56R)	NM_002778.4 M	SNV	LB	5 +	1
300509	PSAP	c.1458G>A	p.Ser486= (p.S486=)	NM_001042466.3	SNV	B	5 +	1
300509	PSAP	c.1461G>A	p.Ser487= (p.S487=)	NM_001042465.3	SNV	B	5 +	1
300516	PSAP	c.1062C>T	p.Ser354= (p.S354=)	NM_001042466.3	SNV	LB	6 +	1
300516	PSAP	c.1065C>T	p.Ser355= (p.S355=)	NM_001042465.3	SNV	LB	6 +	1
300533	PSAP	c.167C>G	p.Pro56Arg (p.P56R)	NM_001042465.3	SNV	LB	5 +	1

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