Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73610666_73610747delinsACTCATAGTTCTTCCCTTTCTTGCTGGGCAAGGTAATGAAGCACTTTTGGCCAATTTACCTGTAAAATGAGAGGGTTAATAC	CA1261040886	ALMS1	c.3933+984_3933+1065delinsACTCATAGTTCTTCCCTTTCTTGCTGGGCAAGGTAATGAAGCACTTTTGGCCAATTTACCTGTAAAATGAGAGGGTTAATAC n.451_532delinsACTCATAGTTCTTCCCTTTCTTGCTGGGCAAGGTAATGAAGCACTTTTGGCCAATTTACCTGTAAAATGAGAGGGTTAATAC
2	g.73610670_73610750del	CA1032229313	ALMS1	c.3933+988_3933+1068del n.455_535del	dbSNP gnomAD v3 gnomAD v4
2	g.73610729A=	CA1261040909	ALMS1	c.3933+1047A= n.514A=
2	g.73610729A>G	CA1261040910	ALMS1	c.3933+1047A>G n.514A>G	dbSNP
2	g.73610734G>C	CA533679439	ALMS1	c.3933+1052G>C n.519G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73610734G=	CA1261040911	ALMS1	c.3933+1052G= n.519G=
2	g.73610734G>T	CA2659622509	ALMS1	c.3933+1052G>T n.519G>T	gnomAD v4
2	g.73610735_73610748delinsAGAGGGTTAATACC	CA1261040912	ALMS1	c.3933+1053_3933+1066delinsAGAGGGTTAATACC n.520_533delinsAGAGGGTTAATACC
2	g.73610736G>A	CA892849219	ALMS1	c.3933+1054G>A n.521G>A	dbSNP gnomAD v3 gnomAD v4
2	g.73610736G=	CA1261040913	ALMS1	c.3933+1054G= n.521G=
2	g.73610736_73610748del	CA50344402	ALMS1	c.3933+1054_3933+1066del n.521_533del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73610737A>G	CA2750470312	ALMS1	c.3933+1055A>G n.522A>G
2	g.73610738G>C	CA533679442	ALMS1	c.3933+1056G>C n.523G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73610738G=	CA1261040914	ALMS1	c.3933+1056G= n.523G=
2	g.73610738G>T	CA2567801551	ALMS1	c.3933+1056G>T n.523G>T
2	g.73610739G>A	CA50344406	ALMS1	c.3933+1057G>A n.524G>A	dbSNP
2	g.73610739G=	CA1261040915	ALMS1	c.3933+1057G= n.524G=
2	g.73610739G>T	CA2659622510	ALMS1	c.3933+1057G>T n.524G>T	gnomAD v4
2	g.73610742T>C	CA2659622511	ALMS1	c.3933+1060T>C n.527T>C	gnomAD v4
2	g.73610744A=	CA1261040916	ALMS1	c.3933+1062A= n.529A=
2	g.73610744A>T	CA1032229323	ALMS1	c.3933+1062A>T n.529A>T	dbSNP gnomAD v3 gnomAD v4
2	g.73610745T>C	CA2659622512	ALMS1	c.3933+1063T>C n.530T>C	gnomAD v4
2	g.73610746A>G	CA2659622513	ALMS1	c.3933+1064A>G n.531A>G	gnomAD v4
2	g.73610747C>A	CA2659622514	ALMS1	c.3933+1065C>A n.532C>A	gnomAD v4
2	g.73610750C=	CA1261040917	ALMS1	c.3933+1068C= n.535C=
2	g.73610750C>G	CA50344408	ALMS1	c.3933+1068C>G n.535C>G	dbSNP gnomAD v3 gnomAD v4
2	g.73610752A=	CA1261040918	ALMS1	c.3933+1070A= n.537A=
2	g.73610752A>T	CA50344411	ALMS1	c.3933+1070A>T n.537A>T	dbSNP
2	g.73610758C=	CA1261040919	ALMS1	c.3933+1076C= n.543C=
2	g.73610758C>G	CA892849234	ALMS1	c.3933+1076C>G n.543C>G	dbSNP gnomAD v3 gnomAD v4
2	g.73610758C>T	CA533679444	ALMS1	c.3933+1076C>T n.543C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73610765C=	CA1261040920	ALMS1	c.3933+1083C= n.550C=
2	g.73610765C>T	CA892849239	ALMS1	c.3933+1083C>T n.550C>T	dbSNP
2	g.73610766A=	CA1261040921	ALMS1	c.3933+1084A= n.551A=
2	g.73610766A>G	CA50344414	ALMS1	c.3933+1084A>G n.551A>G	dbSNP
2	g.73610768A=	CA1261040922	ALMS1	c.3933+1086A= n.553A=
2	g.73610768A>G	CA1261040923	ALMS1	c.3933+1086A>G n.553A>G	dbSNP
2	g.73610770A=	CA1261040926	ALMS1	c.3933+1088A= n.555A=
2	g.73610770A>G	CA1261040925	ALMS1	c.3933+1088A>G n.555A>G	dbSNP
2	g.73610770_73610771delinsAC	CA1261040924	ALMS1	c.3933+1088_3933+1089delinsAC n.555_556delinsAC
2	g.73610771del	CA50344416	ALMS1	c.3933+1089del n.556del	dbSNP gnomAD v3 gnomAD v4
2	g.73610773C=	CA1261040927	ALMS1	c.3933+1091C= n.558C=
2	g.73610773C>T	CA892849246	ALMS1	c.3933+1091C>T n.558C>T	dbSNP
2	g.73610775A=	CA1261040928	ALMS1	c.3933+1093A= n.560A=
2	g.73610775A>G	CA50344421	ALMS1	c.3933+1093A>G n.560A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73610776A=	CA1261040930	ALMS1	c.3933+1094A= n.561A=
2	g.73610776A>G	CA1261040929	ALMS1	c.3933+1094A>G n.561A>G	dbSNP
2	g.73610779C=	CA1261040931	ALMS1	c.3933+1097C= n.564C=
2	g.73610779C>T	CA50344428	ALMS1	c.3933+1097C>T n.564C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73610780_73610788delinsAATGTGACT	CA1261040932	ALMS1	c.3933+1098_3933+1106delinsAATGTGACT n.565_573delinsAATGTGACT

Number of alleles fetched