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Gene: TTN & Disease: OI, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
202493	TTN	c.94103_94107del	p.Ile31368fs (p.I31368fs)	NM_001267550.2 M	Del	P	4 +	5
	TTN	c.89180_89184del	p.Ile29727fs (p.I29727fs)	NM_001256850.1	Del	P	4 +	5
	TTN	c.66908_66912del	p.Ile22303fs (p.I22303fs)	NM_003319.4	Del	P	4 +	5
	TTN	c.86399_86403del	p.Ile28800fs (p.I28800fs)	NM_133378.4	Del	P	4 +	5
	TTN	c.67283_67287del	p.Ile22428fs (p.I22428fs)	NM_133432.3	Del	P	4 +	5
	TTN	c.67484_67488del	p.Ile22495fs (p.I22495fs)	NM_133437.4	Del	P	4 +	5
	TTN	c.89180_89184delTTAAA	--	NM_001256850.1	Del	P	4 +	5
	TTN	c.66908_66912delTTAAA	--	NM_003319.4	Del	P	4 +	5

8 Results, 20 per Page

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