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Gene: TAP2 & Disease: BLS1, 1035 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
534707	TAP2	c.1272+1G>A	--	NM_001290043.2 M	SNV	LP	1 +	5
1456619	TAP2	c.373del	p.Gln125fs (p.Q125fs)	NM_001290043.2 M	Del	P	1 +	5
1480495	TAP2	c.494-2A>G	--	NM_001290043.2 M	SNV	LP	1 +	5
534707	TAP2	c.1272+1G>A	--	NM_000544.3	SNV	LP	1 +	5
534707	TAP2	c.1272+1G>A	--	NM_018833.3	SNV	LP	1 +	5
1456619	TAP2	c.373del	p.Gln125fs (p.Q125fs)	NM_000544.3	Del	P	1 +	5
1456619	TAP2	c.373del	p.Gln125fs (p.Q125fs)	NM_018833.3	Del	P	1 +	5
1480495	TAP2	c.494-2A>G	--	NM_018833.3	SNV	LP	1 +	5
2164746	TAP2	c.815del	p.Leu272fs (p.L272fs)	NM_001290043.2 M	Del	P	1 +	4
1443971	TAP2	c.1260del	p.Ser421fs (p.S421fs)	NM_001290043.2 M	Del	P	1 +	4
1032425	TAP2	c.1345C>T	p.Arg449Ter (p.R449X)	NM_001290043.2 M	SNV	P	1 +	4
1452277	TAP2	c.824del	p.Leu275fs (p.L275fs)	NM_001290043.2 M	Del	P	1 +	4
2136377	TAP2	c.658C>T	p.Arg220Ter (p.R220X)	NM_001290043.2 M	SNV	P	1 +	4
1459385	TAP2	c.1101G>A	p.Trp367Ter (p.W367X)	NM_001290043.2 M	SNV	P	1 +	4
2075917	TAP2	c.224del	p.Leu75fs (p.L75fs)	NM_001290043.2 M	Del	P	1 +	4
571072	TAP2	c.958del	p.Glu320fs (p.E320fs)	NM_001290043.2 M	Del	P	1 +	4
1928904	TAP2	c.1837C>T	p.Gln613Ter (p.Q613X)	NM_001290043.2 M	SNV	P	1 +	4
1996596	TAP2	c.1606C>T	p.Gln536Ter (p.Q536X)	NM_001290043.2 M	SNV	P	1 +	4
2033577	TAP2	c.724C>T	p.Gln242Ter (p.Q242X)	NM_001290043.2 M	SNV	P	1 +	4
2164746	TAP2	c.815del	p.Leu272fs (p.L272fs)	NM_000544.3	Del	P	1 +	4

1035 Results, 20 per Page

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