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Gene: TUFT1 & Disease: WHSF, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2505311	TUFT1	c.564del	p.Gln189fs (p.Q189fs)	NM_020127.3 M	Del	P	1 +	1
2505312	TUFT1	c.60+1G>A	--	NM_020127.3 M	SNV	P	1 +	1
2505311	TUFT1	c.489del	p.Gln164fs (p.Q164fs)	NM_001126337.2	Del	P	1 +	1
2505311	TUFT1	c.621del	p.Gln208fs (p.Q208fs)	NM_001301317.2	Del	P	1 +	1
2505312	TUFT1	c.60+1G>A	--	NM_001126337.2	SNV	P	1 +	1
2505312	TUFT1	c.-23+1G>A	--	NM_001301317.2	SNV	P	1 +	1

共6个结果, 每页展示20条

1

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