Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.26519100_26519117del	CA2658241350	OTOF	c.228-7_238del	gnomAD v4
2	g.26519105T>A	CA346139806	OTOF	c.232A>T (p.Ile78Phe)
2	g.26519105T>C	CA346139807	OTOF	c.232A>G (p.Ile78Val)	dbSNP gnomAD v2 gnomAD v4
2	g.26519105T>G	CA346139808	OTOF	c.232A>C (p.Ile78Leu)
2	g.26519105T=	CA1239847770	OTOF	c.232A= (p.Ile78=)
2	g.26519106G>A	CA1564741	OTOF	c.231C>T (p.Leu77=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.26519106G>C	CA425209416	OTOF	c.231C>G (p.Leu77=)
2	g.26519106G=	CA1239847771	OTOF	c.231C= (p.Leu77=)
2	g.26519106G>T	CA425209417	OTOF	c.231C>A (p.Leu77=)
2	g.26519107A>C	CA346139809	OTOF	c.230T>G (p.Leu77Arg)
2	g.26519107A>G	CA346139810	OTOF	c.230T>C (p.Leu77Pro)	gnomAD v4
2	g.26519107A>T	CA346139811	OTOF	c.230T>A (p.Leu77His)
2	g.26519108G>A	CA1564742	OTOF	c.229C>T (p.Leu77Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.26519108G>C	CA346139812	OTOF	c.229C>G (p.Leu77Val)	dbSNP
2	g.26519108G=	CA1239847772	OTOF	c.229C= (p.Leu77=)
2	g.26519108G>T	CA346139813	OTOF	c.229C>A (p.Leu77Ile)	gnomAD v4
2	g.26519109C>A	CA346139814	OTOF	c.228G>T (p.Lys76Asn)
2	g.26519109C=	CA1239847773	OTOF	c.228G= (p.Lys76=)
2	g.26519109C>G	CA346139815	OTOF	c.228G>C (p.Lys76Asn)
2	g.26519109C>T	CA1564743	OTOF	c.228G>A (p.Lys76=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.26519110del	CA2658241351	OTOF	c.228del	gnomAD v4
2	g.26519110C>A	CA346139818	OTOF	c.228-1G>T (n.228-1G>T)	gnomAD v4
2	g.26519110C>G	CA346139816	OTOF	c.228-1G>C (n.228-1G>C)
2	g.26519110C>T	CA346139817	OTOF	c.228-1G>A (n.228-1G>A)
2	g.26519111T>A	CA346139819	OTOF	c.228-2A>T (n.228-2A>T)
2	g.26519111T>C	CA346139820	OTOF	c.228-2A>G (n.228-2A>G)	gnomAD v4
2	g.26519111T>G	CA346139821	OTOF	c.228-2A>C (n.228-2A>C)
2	g.26519112G>T	CA2658241353	OTOF	c.228-3C>A (n.228-3C>A)	gnomAD v4
2	g.26519115del	CA2658241352	OTOF	c.228-3del (n.228-3del)	gnomAD v4
2	g.26519113G>A	CA767284172	OTOF	c.228-4C>T (n.228-4C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.26519113G=	CA1239847774	OTOF	c.228-4C= (n.228-4C=)
2	g.26519113G>T	CA2658241354	OTOF	c.228-4C>A (n.228-4C>A)	gnomAD v4
2	g.26519114G>A	CA2658241355	OTOF	c.228-5C>T (n.228-5C>T)	gnomAD v4
2	g.26519114G>T	CA2658241356	OTOF	c.228-5C>A (n.228-5C>A)	gnomAD v4
2	g.26519115G>A	CA1564744	OTOF	c.228-6C>T (n.228-6C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.26519115G>C	CA531401010	OTOF	c.228-6C>G (n.228-6C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.26519115G=	CA1239847775	OTOF	c.228-6C= (n.228-6C=)
2	g.26519115G>T	CA2658241357	OTOF	c.228-6C>A (n.228-6C>A)	gnomAD v4
2	g.26519118G>A	CA1239847777	OTOF	c.228-9C>T (n.228-9C>T)	dbSNP gnomAD v4
2	g.26519118G=	CA1239847776	OTOF	c.228-9C= (n.228-9C=)
2	g.26519118G>T	CA2658241359	OTOF	c.228-9C>A (n.228-9C>A)	gnomAD v4
2	g.26519119del	CA2658241358	OTOF	c.228-9del (n.228-9del)	gnomAD v4
2	g.26519119G>A	CA2658241360	OTOF	c.228-10C>T (n.228-10C>T)	ClinVar gnomAD v4
2	g.26519119G>T	CA2658241361	OTOF	c.228-10C>A (n.228-10C>A)	gnomAD v4
2	g.26519120C>A	CA2658241362	OTOF	c.228-11G>T (n.228-11G>T)	gnomAD v4
2	g.26519120C>T	CA2658241363	OTOF	c.228-11G>A (n.228-11G>A)	gnomAD v4
2	g.26519121A>C	CA2658241364	OTOF	c.228-12T>G (n.228-12T>G)	gnomAD v4
2	g.26519122G>C	CA2658241365	OTOF	c.228-13C>G (n.228-13C>G)	gnomAD v4
2	g.26519122G>T	CA2658241366	OTOF	c.228-13C>A (n.228-13C>A)	gnomAD v4
2	g.26519122_26519123delinsGA	CA1239847778	OTOF	c.228-14_228-13delinsTC (n.228-14_228-13delinsTC)

Number of alleles fetched