Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.26519009C>A	CA346139604	OTOF	c.327+1G>T (n.327+1G>T)
2	g.26519009C=	CA1239847722	OTOF	c.327+1G= (n.327+1G=)
2	g.26519009C>G	CA346139605	OTOF	c.327+1G>C (n.327+1G>C)
2	g.26519009C>T	CA346139606	OTOF	c.327+1G>A (n.327+1G>A)	dbSNP gnomAD v4
2	g.26519010C>A	CA346139607	OTOF	c.327G>T (p.Lys109Asn)	gnomAD v4
2	g.26519010C=	CA1239847723	OTOF	c.327G= (p.Lys109=)
2	g.26519010C>G	CA346139608	OTOF	c.327G>C (p.Lys109Asn)
2	g.26519010C>T	CA425209359	OTOF	c.327G>A (p.Lys109=)	dbSNP
2	g.26519011T>A	CA1564722	OTOF	c.326A>T (p.Lys109Met)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.26519011T>C	CA346139610	OTOF	c.326A>G (p.Lys109Arg)
2	g.26519011T>G	CA346139609	OTOF	c.326A>C (p.Lys109Thr)
2	g.26519011T=	CA1239847724	OTOF	c.326A= (p.Lys109=)
2	g.26519012T>A	CA346139611	OTOF	c.325A>T (p.Lys109Ter)
2	g.26519012T>C	CA346139613	OTOF	c.325A>G (p.Lys109Glu)
2	g.26519012T>G	CA346139612	OTOF	c.325A>C (p.Lys109Gln)
2	g.26519016_26519018del	CA2749241675	OTOF	c.323_325del (p.Ile108del)
2	g.26519013G>A	CA425209360	OTOF	c.324C>T (p.Ile108=)
2	g.26519013G>C	CA346139614	OTOF	c.324C>G (p.Ile108Met)
2	g.26519013G>T	CA425209361	OTOF	c.324C>A (p.Ile108=)	gnomAD v4
2	g.26519014A>C	CA346139616	OTOF	c.323T>G (p.Ile108Ser)
2	g.26519014A>G	CA346139615	OTOF	c.323T>C (p.Ile108Thr)
2	g.26519014A>T	CA346139617	OTOF	c.323T>A (p.Ile108Asn)
2	g.26519015T>A	CA44437239	OTOF	c.322A>T (p.Ile108Phe)	dbSNP
2	g.26519015T>C	CA185331	OTOF	c.322A>G (p.Ile108Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.26519015T>G	CA346139618	OTOF	c.322A>C (p.Ile108Leu)	gnomAD v4
2	g.26519015T=	CA1239847725	OTOF	c.322A= (p.Ile108=)
2	g.26519016G>A	CA425209362	OTOF	c.321C>T (p.Ile107=)
2	g.26519016G>C	CA346139619	OTOF	c.321C>G (p.Ile107Met)
2	g.26519016G>T	CA425209363	OTOF	c.321C>A (p.Ile107=)	gnomAD v4
2	g.26519016_26519021delinsGATAGC	CA1239847726	OTOF	c.316_321delinsGCTATC (p.Ala106=)
2	g.26519017A>C	CA346139620	OTOF	c.320T>G (p.Ile107Ser)
2	g.26519017A>G	CA346139621	OTOF	c.320T>C (p.Ile107Thr)	gnomAD v4
2	g.26519017A>T	CA346139622	OTOF	c.320T>A (p.Ile107Asn)
2	g.26519019_26519023del	CA767283998	OTOF	c.316_320del (p.Ala106HisfsTer15)	dbSNP gnomAD v3 gnomAD v4
2	g.26519018T>A	CA346139623	OTOF	c.319A>T (p.Ile107Phe)
2	g.26519018T>C	CA346139624	OTOF	c.319A>G (p.Ile107Val)	dbSNP gnomAD v3 gnomAD v4
2	g.26519018T>G	CA346139625	OTOF	c.319A>C (p.Ile107Leu)
2	g.26519018T=	CA1239847727	OTOF	c.319A= (p.Ile107=)
2	g.26519019A>C	CA425209364	OTOF	c.318T>G (p.Ala106=)
2	g.26519019A>G	CA425209365	OTOF	c.318T>C (p.Ala106=)
2	g.26519019A>T	CA425209366	OTOF	c.318T>A (p.Ala106=)
2	g.26519020G>A	CA1564723	OTOF	c.317C>T (p.Ala106Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.26519020G>C	CA346139626	OTOF	c.317C>G (p.Ala106Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.26519020G=	CA1239847728	OTOF	c.317C= (p.Ala106=)
2	g.26519020G>T	CA346139627	OTOF	c.317C>A (p.Ala106Asp)
2	g.26519021C>A	CA346139628	OTOF	c.316G>T (p.Ala106Ser)
2	g.26519021C>G	CA346139630	OTOF	c.316G>C (p.Ala106Pro)
2	g.26519021C>T	CA346139629	OTOF	c.316G>A (p.Ala106Thr)
2	g.26519022A>C	CA346139631	OTOF	c.315T>G (p.Asn105Lys)
2	g.26519022A>G	CA425209367	OTOF	c.315T>C (p.Asn105=)	ClinVar gnomAD v4

Number of alleles fetched