Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.26458083T>A	CA346125103	OTOF	c.155A>T (n.155A>T) c.3650A>T (p.Tyr1217Phe) c.5951A>T (p.Tyr1984Phe) c.5936A>T (p.Tyr1979Phe) c.5996A>T (p.Tyr1999Phe)
2	g.26458083T>C	CA346125106	OTOF	c.155A>G (n.155A>G) c.3650A>G (p.Tyr1217Cys) c.5951A>G (p.Tyr1984Cys) c.5936A>G (p.Tyr1979Cys) c.5996A>G (p.Tyr1999Cys)
2	g.26458083T>G	CA346125104	OTOF	c.155A>C (n.155A>C) c.3650A>C (p.Tyr1217Ser) c.5951A>C (p.Tyr1984Ser) c.5936A>C (p.Tyr1979Ser) c.5996A>C (p.Tyr1999Ser)
2	g.26458084A>C	CA346125110	OTOF	c.154T>G (n.154T>G) c.3649T>G (p.Tyr1217Asp) c.5950T>G (p.Tyr1984Asp) c.5935T>G (p.Tyr1979Asp) c.5995T>G (p.Tyr1999Asp)
2	g.26458084A>G	CA346125117	OTOF	c.154T>C (n.154T>C) c.3649T>C (p.Tyr1217His) c.5950T>C (p.Tyr1984His) c.5935T>C (p.Tyr1979His) c.5995T>C (p.Tyr1999His)
2	g.26458084A>T	CA346125119	OTOF	c.154T>A (n.154T>A) c.3649T>A (p.Tyr1217Asn) c.5950T>A (p.Tyr1984Asn) c.5935T>A (p.Tyr1979Asn) c.5995T>A (p.Tyr1999Asn)
2	g.26458085G>A	CA1239822151	OTOF	c.153C>T (n.153C>T) c.3648C>T (p.Leu1216=) c.5949C>T (p.Leu1983=) c.5934C>T (p.Leu1978=) c.5994C>T (p.Leu1998=)	dbSNP gnomAD v4
2	g.26458085G>C	CA2739799958	OTOF	c.153C>G (n.153C>G) c.3648C>G (p.Leu1216=) c.5949C>G (p.Leu1983=) c.5934C>G (p.Leu1978=) c.5994C>G (p.Leu1998=)
2	g.26458085G=	CA1239822150	OTOF	c.153C= (n.153C=) c.3648C= (p.Leu1216=) c.5949C= (p.Leu1983=) c.5934C= (p.Leu1978=) c.5994C= (p.Leu1998=)
2	g.26458085G>T	CA2739799959	OTOF	c.153C>A (n.153C>A) c.3648C>A (p.Leu1216=) c.5949C>A (p.Leu1983=) c.5934C>A (p.Leu1978=) c.5994C>A (p.Leu1998=)
2	g.26458086A>C	CA346125120	OTOF	c.152T>G (n.152T>G) c.3647T>G (p.Leu1216Arg) c.5948T>G (p.Leu1983Arg) c.5933T>G (p.Leu1978Arg) c.5993T>G (p.Leu1998Arg)
2	g.26458086A>G	CA346125127	OTOF	c.152T>C (n.152T>C) c.3647T>C (p.Leu1216Pro) c.5948T>C (p.Leu1983Pro) c.5933T>C (p.Leu1978Pro) c.5993T>C (p.Leu1998Pro)
2	g.26458086A>T	CA346125128	OTOF	c.152T>A (n.152T>A) c.3647T>A (p.Leu1216His) c.5948T>A (p.Leu1983His) c.5933T>A (p.Leu1978His) c.5993T>A (p.Leu1998His)
2	g.26458087G>A	CA346125129	OTOF	c.151C>T (n.151C>T) c.3646C>T (p.Leu1216Phe) c.5947C>T (p.Leu1983Phe) c.5932C>T (p.Leu1978Phe) c.5992C>T (p.Leu1998Phe)	gnomAD v4
2	g.26458087G>C	CA346125130	OTOF	c.151C>G (n.151C>G) c.3646C>G (p.Leu1216Val) c.5947C>G (p.Leu1983Val) c.5932C>G (p.Leu1978Val) c.5992C>G (p.Leu1998Val)	dbSNP gnomAD v2 gnomAD v4
2	g.26458087G=	CA1239822152	OTOF	c.151C= (n.151C=) c.3646C= (p.Leu1216=) c.5947C= (p.Leu1983=) c.5932C= (p.Leu1978=) c.5992C= (p.Leu1998=)
2	g.26458087G>T	CA346125132	OTOF	c.151C>A (n.151C>A) c.3646C>A (p.Leu1216Ile) c.5947C>A (p.Leu1983Ile) c.5932C>A (p.Leu1978Ile) c.5992C>A (p.Leu1998Ile)
2	g.26458088G>A	CA2576699115	OTOF	c.150C>T (n.150C>T) c.3645C>T (p.Phe1215=) c.5946C>T (p.Phe1982=) c.5931C>T (p.Phe1977=) c.5991C>T (p.Phe1997=)
2	g.26458088G>C	CA346125135	OTOF	c.150C>G (n.150C>G) c.3645C>G (p.Phe1215Leu) c.5946C>G (p.Phe1982Leu) c.5931C>G (p.Phe1977Leu) c.5991C>G (p.Phe1997Leu)	gnomAD v4
2	g.26458088G>T	CA346125138	OTOF	c.150C>A (n.150C>A) c.3645C>A (p.Phe1215Leu) c.5946C>A (p.Phe1982Leu) c.5931C>A (p.Phe1977Leu) c.5991C>A (p.Phe1997Leu)
2	g.26458089A=	CA1239822156	OTOF	c.149T= (n.149T=) c.3644T= (p.Phe1215=) c.5945T= (p.Phe1982=) c.5930T= (p.Phe1977=) c.5990T= (p.Phe1997=)
2	g.26458089A>C	CA346125153	OTOF	c.149T>G (n.149T>G) c.3644T>G (p.Phe1215Cys) c.5945T>G (p.Phe1982Cys) c.5930T>G (p.Phe1977Cys) c.5990T>G (p.Phe1997Cys)	gnomAD v4
2	g.26458089A>G	CA346125151	OTOF	c.149T>C (n.149T>C) c.3644T>C (p.Phe1215Ser) c.5945T>C (p.Phe1982Ser) c.5930T>C (p.Phe1977Ser) c.5990T>C (p.Phe1997Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.26458089A>T	CA346125149	OTOF	c.149T>A (n.149T>A) c.3644T>A (p.Phe1215Tyr) c.5945T>A (p.Phe1982Tyr) c.5930T>A (p.Phe1977Tyr) c.5990T>A (p.Phe1997Tyr)
2	g.26458090A>C	CA346125155	OTOF	c.148T>G (n.148T>G) c.3643T>G (p.Phe1215Val) c.5944T>G (p.Phe1982Val) c.5929T>G (p.Phe1977Val) c.5989T>G (p.Phe1997Val)
2	g.26458090A>G	CA346125157	OTOF	c.148T>C (n.148T>C) c.3643T>C (p.Phe1215Leu) c.5944T>C (p.Phe1982Leu) c.5929T>C (p.Phe1977Leu) c.5989T>C (p.Phe1997Leu)
2	g.26458090A>T	CA346125160	OTOF	c.148T>A (n.148T>A) c.3643T>A (p.Phe1215Ile) c.5944T>A (p.Phe1982Ile) c.5929T>A (p.Phe1977Ile) c.5989T>A (p.Phe1997Ile)
2	g.26458091G>A	CA44405116	OTOF	c.147C>T (n.147C>T) c.3642C>T (p.Leu1214=) c.5943C>T (p.Leu1981=) c.5928C>T (p.Leu1976=) c.5988C>T (p.Leu1996=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.26458091G>C	CA2658232245	OTOF	c.147C>G (n.147C>G) c.3642C>G (p.Leu1214=) c.5943C>G (p.Leu1981=) c.5928C>G (p.Leu1976=) c.5988C>G (p.Leu1996=)	gnomAD v4
2	g.26458091G=	CA1239822158	OTOF	c.147C= (n.147C=) c.3642C= (p.Leu1214=) c.5943C= (p.Leu1981=) c.5928C= (p.Leu1976=) c.5988C= (p.Leu1996=)
2	g.26458092A>C	CA346125165	OTOF	c.146T>G (n.146T>G) c.3641T>G (p.Leu1214Arg) c.5942T>G (p.Leu1981Arg) c.5927T>G (p.Leu1976Arg) c.5987T>G (p.Leu1996Arg)
2	g.26458092A>G	CA346125166	OTOF	c.146T>C (n.146T>C) c.3641T>C (p.Leu1214Pro) c.5942T>C (p.Leu1981Pro) c.5927T>C (p.Leu1976Pro) c.5987T>C (p.Leu1996Pro)	gnomAD v4
2	g.26458092A>T	CA346125167	OTOF	c.146T>A (n.146T>A) c.3641T>A (p.Leu1214His) c.5942T>A (p.Leu1981His) c.5927T>A (p.Leu1976His) c.5987T>A (p.Leu1996His)
2	g.26458102_26458116dup	CA2658232246	OTOF	c.132_146dup (n.132_146dup) c.3627_3641dup (p.Leu1214_Phe1215insLeuMetLeuGlyLeu) c.5928_5942dup (p.Leu1981_Phe1982insLeuMetLeuGlyLeu) c.5913_5927dup (p.Leu1976_Phe1977insLeuMetLeuGlyLeu) c.5973_5987dup (p.Leu1996_Phe1997insLeuMetLeuGlyLeu)	gnomAD v4
2	g.26458093G>A	CA346125168	OTOF	c.145C>T (n.145C>T) c.3640C>T (p.Leu1214Phe) c.5941C>T (p.Leu1981Phe) c.5926C>T (p.Leu1976Phe) c.5986C>T (p.Leu1996Phe)	dbSNP gnomAD v2
2	g.26458093G>C	CA346125169	OTOF	c.145C>G (n.145C>G) c.3640C>G (p.Leu1214Val) c.5941C>G (p.Leu1981Val) c.5926C>G (p.Leu1976Val) c.5986C>G (p.Leu1996Val)
2	g.26458093G=	CA1239822161	OTOF	c.145C= (n.145C=) c.3640C= (p.Leu1214=) c.5941C= (p.Leu1981=) c.5926C= (p.Leu1976=) c.5986C= (p.Leu1996=)
2	g.26458093G>T	CA346125170	OTOF	c.145C>A (n.145C>A) c.3640C>A (p.Leu1214Ile) c.5941C>A (p.Leu1981Ile) c.5926C>A (p.Leu1976Ile) c.5986C>A (p.Leu1996Ile)	dbSNP gnomAD v4
2	g.26458094C>A	CA1028603159	OTOF	c.144G>T (n.144G>T) c.3639G>T (p.Gly1213=) c.5940G>T (p.Gly1980=) c.5925G>T (p.Gly1975=) c.5985G>T (p.Gly1995=)	dbSNP gnomAD v3 gnomAD v4
2	g.26458094C=	CA1239822165	OTOF	c.144G= (n.144G=) c.3639G= (p.Gly1213=) c.5940G= (p.Gly1980=) c.5925G= (p.Gly1975=) c.5985G= (p.Gly1995=)
2	g.26458094C>G	CA2739799960	OTOF	c.144G>C (n.144G>C) c.3639G>C (p.Gly1213=) c.5940G>C (p.Gly1980=) c.5925G>C (p.Gly1975=) c.5985G>C (p.Gly1995=)
2	g.26458094C>T	CA2739799961	OTOF	c.144G>A (n.144G>A) c.3639G>A (p.Gly1213=) c.5940G>A (p.Gly1980=) c.5925G>A (p.Gly1975=) c.5985G>A (p.Gly1995=)
2	g.26458095C>A	CA346125174	OTOF	c.143G>T (n.143G>T) c.3638G>T (p.Gly1213Val) c.5939G>T (p.Gly1980Val) c.5924G>T (p.Gly1975Val) c.5984G>T (p.Gly1995Val)
2	g.26458095C>G	CA346125177	OTOF	c.143G>C (n.143G>C) c.3638G>C (p.Gly1213Ala) c.5939G>C (p.Gly1980Ala) c.5924G>C (p.Gly1975Ala) c.5984G>C (p.Gly1995Ala)
2	g.26458095C>T	CA346125189	OTOF	c.143G>A (n.143G>A) c.3638G>A (p.Gly1213Glu) c.5939G>A (p.Gly1980Glu) c.5924G>A (p.Gly1975Glu) c.5984G>A (p.Gly1995Glu)
2	g.26458096C>A	CA346125194	OTOF	c.142G>T (n.142G>T) c.3637G>T (p.Gly1213Trp) c.5938G>T (p.Gly1980Trp) c.5923G>T (p.Gly1975Trp) c.5983G>T (p.Gly1995Trp)
2	g.26458096C>G	CA346125193	OTOF	c.142G>C (n.142G>C) c.3637G>C (p.Gly1213Arg) c.5938G>C (p.Gly1980Arg) c.5923G>C (p.Gly1975Arg) c.5983G>C (p.Gly1995Arg)
2	g.26458096C>T	CA346125192	OTOF	c.142G>A (n.142G>A) c.3637G>A (p.Gly1213Arg) c.5938G>A (p.Gly1980Arg) c.5923G>A (p.Gly1975Arg) c.5983G>A (p.Gly1995Arg)
2	g.26458097C>A	CA346125196	OTOF	c.141G>T (n.141G>T) c.3636G>T (p.Leu1212Phe) c.5937G>T (p.Leu1979Phe) c.5922G>T (p.Leu1974Phe) c.5982G>T (p.Leu1994Phe)
2	g.26458097C>G	CA346125203	OTOF	c.141G>C (n.141G>C) c.3636G>C (p.Leu1212Phe) c.5937G>C (p.Leu1979Phe) c.5922G>C (p.Leu1974Phe) c.5982G>C (p.Leu1994Phe)

Number of alleles fetched