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Gene: CDH23 & Disease: USH1D, 1687 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
46001	CDH23	c.6050-9G>A	--	NM_022124.6 M	SNV	P	7 +	15
4928	CDH23	c.719C>T	p.Pro240Leu (p.P240L)	NM_022124.6 M	SNV	P	6 +	14
	CDH23	c.719C>T	p.Pro240Leu (p.P240L)	NM_001171930.2	SNV	P	6 +	14
	CDH23	c.719C>T	p.Pro240Leu (p.P240L)	NM_001171931.2	SNV	P	6 +	14
	CDH23	c.719C>T	p.Pro240Leu (p.P240L)	NM_001171932.2	SNV	P	6 +	14
	CDH23	c.719C>T	p.Pro240Leu (p.P240L)	NM_052836.4	SNV	P	6 +	14
877825	CDH23	c.4762C>T	p.Arg1588Trp (p.R1588W)	NM_022124.6 M	SNV	LP	2 +	13
46040	CDH23	c.7823G>A	p.Arg2608His (p.R2608H)	NM_022124.6 M	SNV	LP	4 +	13
	CDH23	c.1103G>A	p.Arg368His (p.R368H)	NM_001171933.1	SNV	LP	4 +	13
	CDH23	c.1103G>A	p.Arg368His (p.R368H)	NM_001171934.1	SNV	LP	4 +	13
4916	CDH23	c.5237G>A	p.Arg1746Gln (p.R1746Q)	NM_022124.6 M	SNV	P	7 +	11
45891	CDH23	c.2263C>T	p.His755Tyr (p.H755Y)	NM_022124.6 M	SNV	LP	10 +	8
46000	CDH23	c.6049G>A	p.Gly2017Ser (p.G2017S)	NM_022124.6 M	SNV	P	4 +	8
45891	CDH23	c.2263C>T	p.His755Tyr (p.H755Y)	NM_001171930.2	SNV	LP	10 +	8
45891	CDH23	c.2263C>T	p.His755Tyr (p.H755Y)	NM_001171931.2	SNV	LP	10 +	8
45957	CDH23	c.4858G>A	p.Val1620Met (p.V1620M)	NM_022124.6 M	SNV	LB	4 +	7
44114	CDH23	c.1096G>A	p.Ala366Thr (p.A366T)	NM_022124.6 M	SNV	LB	5 +	7
	CDH23	c.1096G>A	p.Ala366Thr (p.A366T)	NM_001171930.2	SNV	LB	5 +	7
	CDH23	c.1096G>A	p.Ala366Thr (p.A366T)	NM_001171931.2	SNV	LB	5 +	7
	CDH23	c.1096G>A	p.Ala366Thr (p.A366T)	NM_001171932.2	SNV	LB	5 +	7

1687 Results, 20 per Page

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