Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.182838346G>A	CA2662236394	FRZB	c.797+63C>T (n.797+63C>T)	gnomAD v4
2	g.182838346G>T	CA2577180406	FRZB	c.797+63C>A (n.797+63C>A)	gnomAD v4
2	g.182838348_182838349del	CA2662236395	FRZB	c.797+61_797+62del (n.797+61_797+62del)	gnomAD v4
2	g.182838348C>A	CA2662236396	FRZB	c.797+61G>T (n.797+61G>T)	gnomAD v4
2	g.182838348C>G	CA2662236397	FRZB	c.797+61G>C (n.797+61G>C)	gnomAD v4
2	g.182838352T>C	CA2662236398	FRZB	c.797+57A>G (n.797+57A>G)	gnomAD v4
2	g.182838352T>G	CA1039985218	FRZB	c.797+57A>C (n.797+57A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.182838352T=	CA1312515809	FRZB	c.797+57A= (n.797+57A=)
2	g.182838353T>C	CA2577180407	FRZB	c.797+56A>G (n.797+56A>G)	gnomAD v4
2	g.182838354T>C	CA761677518	FRZB	c.797+55A>G (n.797+55A>G)	dbSNP
2	g.182838354T=	CA1312515810	FRZB	c.797+55A= (n.797+55A=)
2	g.182838355A>T	CA2577180408	FRZB	c.797+54T>A (n.797+54T>A)	gnomAD v4
2	g.182838357T>C	CA2662236400	FRZB	c.797+52A>G (n.797+52A>G)	gnomAD v4
2	g.182838357T>G	CA2662236399	FRZB	c.797+52A>C (n.797+52A>C)	gnomAD v4
2	g.182838358G>A	CA2662236402	FRZB	c.797+51C>T (n.797+51C>T)	gnomAD v4
2	g.182838358G>T	CA2662236401	FRZB	c.797+51C>A (n.797+51C>A)	gnomAD v4
2	g.182838359A=	CA1312515811	FRZB	c.797+50T= (n.797+50T=)
2	g.182838359A>G	CA2013927	FRZB	c.797+50T>C (n.797+50T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.182838360G>A	CA2577180410	FRZB	c.797+49C>T (n.797+49C>T)
2	g.182838360G>T	CA2577180409	FRZB	c.797+49C>A (n.797+49C>A)	gnomAD v4
2	g.182838362del	CA2662236403	FRZB	c.797+47del (n.797+47del)	gnomAD v4
2	g.182838362G>A	CA2753437689	FRZB	c.797+47C>T (n.797+47C>T)
2	g.182838362G>T	CA2662236404	FRZB	c.797+47C>A (n.797+47C>A)	gnomAD v4
2	g.182838363T>A	CA2577180411	FRZB	c.797+46A>T (n.797+46A>T)
2	g.182838363T>C	CA538439237	FRZB	c.797+46A>G (n.797+46A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.182838363T>G	CA2013928	FRZB	c.797+46A>C (n.797+46A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.182838363T=	CA1312515812	FRZB	c.797+46A= (n.797+46A=)
2	g.182838364A>G	CA2662236405	FRZB	c.797+45T>C (n.797+45T>C)	gnomAD v4
2	g.182838365G>T	CA2577180412	FRZB	c.797+44C>A (n.797+44C>A)	gnomAD v4
2	g.182838367A>C	CA2577180413	FRZB	c.797+42T>G (n.797+42T>G)
2	g.182838367_182838368delinsAT	CA1312515813	FRZB	c.797+41_797+42delinsAT (n.797+41_797+42delinsAT)
2	g.182838368del	CA1312515814	FRZB	c.797+41del (n.797+41del)	dbSNP
2	g.182838368T>A	CA2662236406	FRZB	c.797+41A>T (n.797+41A>T)	gnomAD v4
2	g.182838368T>C	CA2662236407	FRZB	c.797+41A>G (n.797+41A>G)	gnomAD v4
2	g.182838371G>A	CA2013929	FRZB	c.797+38C>T (n.797+38C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.182838371G=	CA1312515815	FRZB	c.797+38C= (n.797+38C=)
2	g.182838371G>T	CA2662236408	FRZB	c.797+38C>A (n.797+38C>A)	gnomAD v4
2	g.182838372C>A	CA1039985219	FRZB	c.797+37G>T (n.797+37G>T)	dbSNP gnomAD v3 gnomAD v4
2	g.182838372C=	CA1312515816	FRZB	c.797+37G= (n.797+37G=)
2	g.182838373A=	CA1312515817	FRZB	c.797+36T= (n.797+36T=)
2	g.182838373A>G	CA761677526	FRZB	c.797+36T>C (n.797+36T>C)	dbSNP gnomAD v4
2	g.182838374_182838378del	CA2662236409	FRZB	c.797+32_797+36del (n.797+32_797+36del)	gnomAD v4
2	g.182838375A>C	CA2662236410	FRZB	c.797+34T>G (n.797+34T>G)	gnomAD v4
2	g.182838376G>T	CA2662236411	FRZB	c.797+33C>A (n.797+33C>A)	gnomAD v4
2	g.182838377T>C	CA538439238	FRZB	c.797+32A>G (n.797+32A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.182838377T=	CA1312515818	FRZB	c.797+32A= (n.797+32A=)
2	g.182838378A=	CA1312515819	FRZB	c.797+31T= (n.797+31T=)
2	g.182838378A>G	CA2662236412	FRZB	c.797+31T>C (n.797+31T>C)	gnomAD v4
2	g.182838378A>T	CA61680015	FRZB	c.797+31T>A (n.797+31T>A)	dbSNP gnomAD v4
2	g.182838379G>C	CA2662236413	FRZB	c.797+30C>G (n.797+30C>G)	gnomAD v4
2	g.182838381T>C	CA1312515821	FRZB	c.797+28A>G (n.797+28A>G)	dbSNP gnomAD v4
2	g.182838381T=	CA1312515820	FRZB	c.797+28A= (n.797+28A=)
2	g.182838381_182838382insTATAGGTTTAC	CA2517432515	FRZB	c.797+27_797+28insGTAAACCTATA (n.797+27_797+28insGTAAACCTATA)
2	g.182838384_182838391delinsTCTGTATC	CA1312515822	FRZB	c.797+18_797+25delinsGATACAGA (n.797+18_797+25delinsGATACAGA)
2	g.182838387_182838393del	CA2013930	FRZB	c.797+18_797+24del (n.797+18_797+24del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838387G>A	CA538439239	FRZB	c.797+22C>T (n.797+22C>T)	dbSNP gnomAD v2
2	g.182838387G=	CA1312515823	FRZB	c.797+22C= (n.797+22C=)
2	g.182838387G>T	CA2662236414	FRZB	c.797+22C>A (n.797+22C>A)	gnomAD v4
2	g.182838390T>A	CA2521526560	FRZB	c.797+19A>T (n.797+19A>T)	gnomAD v4
2	g.182838391C=	CA1312515824	FRZB	c.797+18G= (n.797+18G=)
2	g.182838391C>G	CA2662236415	FRZB	c.797+18G>C (n.797+18G>C)	gnomAD v4
2	g.182838391C>T	CA1312515825	FRZB	c.797+18G>A (n.797+18G>A)	dbSNP gnomAD v4
2	g.182838392C>A	CA2662236416	FRZB	c.797+17G>T (n.797+17G>T)	gnomAD v4
2	g.182838392C=	CA1312515826	FRZB	c.797+17G= (n.797+17G=)
2	g.182838392C>T	CA2013931	FRZB	c.797+17G>A (n.797+17G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838393T>C	CA2013932	FRZB	c.797+16A>G (n.797+16A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838393T=	CA1312515827	FRZB	c.797+16A= (n.797+16A=)
2	g.182838395A=	CA1312515828	FRZB	c.797+14T= (n.797+14T=)
2	g.182838395A>C	CA2013933	FRZB	c.797+14T>G (n.797+14T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838400G>A	CA2013934	FRZB	c.797+9C>T (n.797+9C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838400G=	CA1312515829	FRZB	c.797+9C= (n.797+9C=)
2	g.182838402G>A	CA2013935	FRZB	c.797+7C>T (n.797+7C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.182838402G=	CA1312515830	FRZB	c.797+7C= (n.797+7C=)
2	g.182838403A=	CA1312515831	FRZB	c.797+6T= (n.797+6T=)
2	g.182838403A>C	CA538439240	FRZB	c.797+6T>G (n.797+6T>G)	dbSNP gnomAD v2
2	g.182838403A>T	CA538439241	FRZB	c.797+6T>A (n.797+6T>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838405T>G	CA2662236417	FRZB	c.797+4A>C (n.797+4A>C)	gnomAD v4
2	g.182838407A>C	CA349750135	FRZB	c.797+2T>G (n.797+2T>G)
2	g.182838407A>G	CA349750136	FRZB	c.797+2T>C (n.797+2T>C)
2	g.182838407A>T	CA349750137	FRZB	c.797+2T>A (n.797+2T>A)
2	g.182838408C>A	CA349750138	FRZB	c.797+1G>T (n.797+1G>T)
2	g.182838408C>G	CA349750139	FRZB	c.797+1G>C (n.797+1G>C)
2	g.182838408C>T	CA349750140	FRZB	c.797+1G>A (n.797+1G>A)
2	g.182838409C>A	CA349750141	FRZB	c.797G>T (p.Arg266Ile)	dbSNP gnomAD v3 gnomAD v4
2	g.182838409C=	CA1312515832	FRZB	c.797G= (p.Arg266=)
2	g.182838409C>G	CA349750143	FRZB	c.797G>C (p.Arg266Thr)
2	g.182838409C>T	CA349750142	FRZB	c.797G>A (p.Arg266Lys)
2	g.182838410T>A	CA349750144	FRZB	c.796A>T (p.Arg266Ter)
2	g.182838410T>C	CA349750145	FRZB	c.796A>G (p.Arg266Gly)
2	g.182838410T>G	CA430431976	FRZB	c.796A>C (p.Arg266=)
2	g.182838411G>A	CA430431981	FRZB	c.795C>T (p.Ser265=)
2	g.182838411G>C	CA430431980	FRZB	c.795C>G (p.Ser265=)
2	g.182838411G>T	CA430431979	FRZB	c.795C>A (p.Ser265=)
2	g.182838412del	CA2577180414	FRZB	c.795del (p.Arg266AspfsTer9)
2	g.182838412G>A	CA349750146	FRZB	c.794C>T (p.Ser265Phe)
2	g.182838412G>C	CA349750147	FRZB	c.794C>G (p.Ser265Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838412G=	CA1312515833	FRZB	c.794C= (p.Ser265=)
2	g.182838412G>T	CA349750148	FRZB	c.794C>A (p.Ser265Tyr)
2	g.182838413A=	CA1312515834	FRZB	c.793T= (p.Ser265=)
2	g.182838413A>C	CA349750149	FRZB	c.793T>G (p.Ser265Ala)
2	g.182838413A>G	CA349750151	FRZB	c.793T>C (p.Ser265Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.182838413A>T	CA349750150	FRZB	c.793T>A (p.Ser265Thr)
2	g.182838414A>C	CA430431986	FRZB	c.792T>G (p.Arg264=)
2	g.182838414A>G	CA430431987	FRZB	c.792T>C (p.Arg264=)
2	g.182838414A>T	CA430431988	FRZB	c.792T>A (p.Arg264=)
2	g.182838415C>A	CA349750152	FRZB	c.791G>T (p.Arg264Leu)	gnomAD v4
2	g.182838415C=	CA1312515835	FRZB	c.791G= (p.Arg264=)
2	g.182838415C>G	CA349750153	FRZB	c.791G>C (p.Arg264Pro)
2	g.182838415C>T	CA2013936	FRZB	c.791G>A (p.Arg264His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838416G>A	CA2013937	FRZB	c.790C>T (p.Arg264Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838416G>C	CA349750154	FRZB	c.790C>G (p.Arg264Gly)
2	g.182838416G=	CA1312515836	FRZB	c.790C= (p.Arg264=)
2	g.182838416G>T	CA349750155	FRZB	c.790C>A (p.Arg264Ser)	gnomAD v4
2	g.182838417T>A	CA349750156	FRZB	c.789A>T (p.Glu263Asp)
2	g.182838417T>C	CA61680056	FRZB	c.789A>G (p.Glu263=)	dbSNP gnomAD v4 COSMIC
2	g.182838417T>G	CA349750157	FRZB	c.789A>C (p.Glu263Asp)
2	g.182838417T=	CA1312515837	FRZB	c.789A= (p.Glu263=)
2	g.182838418T>A	CA349750158	FRZB	c.788A>T (p.Glu263Val)
2	g.182838418T>C	CA349750159	FRZB	c.788A>G (p.Glu263Gly)
2	g.182838418T>G	CA349750160	FRZB	c.788A>C (p.Glu263Ala)
2	g.182838419C>A	CA349750162	FRZB	c.787G>T (p.Glu263Ter)
2	g.182838419C=	CA1312515838	FRZB	c.787G= (p.Glu263=)
2	g.182838419C>G	CA349750161	FRZB	c.787G>C (p.Glu263Gln)
2	g.182838419C>T	CA2013938	FRZB	c.787G>A (p.Glu263Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838420C>A	CA349750163	FRZB	c.786G>T (p.Glu262Asp)
2	g.182838420C>G	CA349750164	FRZB	c.786G>C (p.Glu262Asp)
2	g.182838420C>T	CA430431998	FRZB	c.786G>A (p.Glu262=)
2	g.182838421T>A	CA349750165	FRZB	c.785A>T (p.Glu262Val)
2	g.182838421T>C	CA349750166	FRZB	c.785A>G (p.Glu262Gly)
2	g.182838421T>G	CA349750167	FRZB	c.785A>C (p.Glu262Ala)	COSMIC
2	g.182838422C>A	CA349750168	FRZB	c.784G>T (p.Glu262Ter)
2	g.182838422C>G	CA349750169	FRZB	c.784G>C (p.Glu262Gln)
2	g.182838422C>T	CA349750170	FRZB	c.784G>A (p.Glu262Lys)
2	g.182838423A>C	CA349750171	FRZB	c.783T>G (p.Asp261Glu)
2	g.182838423A>G	CA430432005	FRZB	c.783T>C (p.Asp261=)	gnomAD v4
2	g.182838423A>T	CA349750172	FRZB	c.783T>A (p.Asp261Glu)
2	g.182838424T>A	CA349750173	FRZB	c.782A>T (p.Asp261Val)
2	g.182838424T>C	CA349750174	FRZB	c.782A>G (p.Asp261Gly)
2	g.182838424T>G	CA349750175	FRZB	c.782A>C (p.Asp261Ala)
2	g.182838425C>A	CA349750181	FRZB	c.781G>T (p.Asp261Tyr)	dbSNP gnomAD v2 gnomAD v4
2	g.182838425C=	CA1312515839	FRZB	c.781G= (p.Asp261=)
2	g.182838425C>G	CA349750179	FRZB	c.781G>C (p.Asp261His)
2	g.182838425C>T	CA349750177	FRZB	c.781G>A (p.Asp261Asn)
2	g.182838426T>A	CA349750183	FRZB	c.780A>T (p.Glu260Asp)
2	g.182838426T>C	CA430432018	FRZB	c.780A>G (p.Glu260=)
2	g.182838426T>G	CA349750184	FRZB	c.780A>C (p.Glu260Asp)
2	g.182838427T>A	CA349750187	FRZB	c.779A>T (p.Glu260Val)
2	g.182838427T>C	CA349750189	FRZB	c.779A>G (p.Glu260Gly)
2	g.182838427T>G	CA349750190	FRZB	c.779A>C (p.Glu260Ala)
2	g.182838427_182838428delinsTC	CA1312515840	FRZB	c.778_779delinsGA (p.Glu260=)
2	g.182838428del	CA761677570	FRZB	c.778del (p.Glu260LysfsTer15)	dbSNP
2	g.182838428C>A	CA349750193	FRZB	c.778G>T (p.Glu260Ter)	dbSNP gnomAD v4
2	g.182838428C=	CA1312515841	FRZB	c.778G= (p.Glu260=)
2	g.182838428C>G	CA349750195	FRZB	c.778G>C (p.Glu260Gln)
2	g.182838428C>T	CA349750196	FRZB	c.778G>A (p.Glu260Lys)	dbSNP gnomAD v2
2	g.182838429A=	CA1312515842	FRZB	c.777T= (p.Tyr259=)
2	g.182838429A>C	CA349750198	FRZB	c.777T>G (p.Tyr259Ter)
2	g.182838429A>G	CA430432029	FRZB	c.777T>C (p.Tyr259=)	gnomAD v4
2	g.182838429A>T	CA349750200	FRZB	c.777T>A (p.Tyr259Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.182838430T>A	CA349750202	FRZB	c.776A>T (p.Tyr259Phe)
2	g.182838430T>C	CA349750204	FRZB	c.776A>G (p.Tyr259Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.182838430T>G	CA349750206	FRZB	c.776A>C (p.Tyr259Ser)
2	g.182838430T=	CA1312515843	FRZB	c.776A= (p.Tyr259=)
2	g.182838431A>C	CA349750210	FRZB	c.775T>G (p.Tyr259Asp)
2	g.182838431A>G	CA349750212	FRZB	c.775T>C (p.Tyr259His)
2	g.182838431A>T	CA349750209	FRZB	c.775T>A (p.Tyr259Asn)
2	g.182838432G>A	CA430432032	FRZB	c.774C>T (p.Gly258=)
2	g.182838432G>C	CA430432034	FRZB	c.774C>G (p.Gly258=)	dbSNP gnomAD v2 gnomAD v4
2	g.182838432G=	CA1312515844	FRZB	c.774C= (p.Gly258=)
2	g.182838432G>T	CA430432033	FRZB	c.774C>A (p.Gly258=)
2	g.182838433C>A	CA349750215	FRZB	c.773G>T (p.Gly258Val)
2	g.182838433C>G	CA349750219	FRZB	c.773G>C (p.Gly258Ala)
2	g.182838433C>T	CA349750217	FRZB	c.773G>A (p.Gly258Asp)
2	g.182838434C>A	CA349750221	FRZB	c.772G>T (p.Gly258Cys)
2	g.182838434C>G	CA349750222	FRZB	c.772G>C (p.Gly258Arg)
2	g.182838434C>T	CA349750223	FRZB	c.772G>A (p.Gly258Ser)
2	g.182838435C>A	CA349750226	FRZB	c.771G>T (p.Met257Ile)
2	g.182838435C>G	CA349750228	FRZB	c.771G>C (p.Met257Ile)
2	g.182838435C>T	CA349750229	FRZB	c.771G>A (p.Met257Ile)	gnomAD v4
2	g.182838436A=	CA1312515845	FRZB	c.770T= (p.Met257=)
2	g.182838436A>C	CA349750231	FRZB	c.770T>G (p.Met257Arg)
2	g.182838436A>G	CA2013939	FRZB	c.770T>C (p.Met257Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.182838436A>T	CA349750234	FRZB	c.770T>A (p.Met257Lys)
2	g.182838437T>A	CA349750237	FRZB	c.769A>T (p.Met257Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.182838437T>C	CA349750240	FRZB	c.769A>G (p.Met257Val)
2	g.182838437T>G	CA349750242	FRZB	c.769A>C (p.Met257Leu)
2	g.182838437T=	CA1312515846	FRZB	c.769A= (p.Met257=)
2	g.182838438G>A	CA430432040	FRZB	c.768C>T (p.Ile256=)
2	g.182838438G>C	CA349750244	FRZB	c.768C>G (p.Ile256Met)
2	g.182838438G>T	CA430432042	FRZB	c.768C>A (p.Ile256=)	COSMIC
2	g.182838439A>C	CA349750246	FRZB	c.767T>G (p.Ile256Ser)
2	g.182838439A>G	CA349750250	FRZB	c.767T>C (p.Ile256Thr)
2	g.182838439A>T	CA349750248	FRZB	c.767T>A (p.Ile256Asn)
2	g.182838440T>A	CA349750253	FRZB	c.766A>T (p.Ile256Phe)
2	g.182838440T>C	CA349750255	FRZB	c.766A>G (p.Ile256Val)
2	g.182838440T>G	CA349750257	FRZB	c.766A>C (p.Ile256Leu)	gnomAD v4
2	g.182838441G>A	CA430432044	FRZB	c.765C>T (p.Ile255=)
2	g.182838441G>C	CA349750259	FRZB	c.765C>G (p.Ile255Met)
2	g.182838441G=	CA1312515847	FRZB	c.765C= (p.Ile255=)
2	g.182838441G>T	CA61680064	FRZB	c.765C>A (p.Ile255=)	dbSNP gnomAD v4
2	g.182838442A=	CA1312515848	FRZB	c.764T= (p.Ile255=)
2	g.182838442A>C	CA349750261	FRZB	c.764T>G (p.Ile255Ser)
2	g.182838442A>G	CA349750263	FRZB	c.764T>C (p.Ile255Thr)
2	g.182838442A>T	CA349750265	FRZB	c.764T>A (p.Ile255Asn)	dbSNP
2	g.182838443T>A	CA349750267	FRZB	c.763A>T (p.Ile255Phe)	gnomAD v4
2	g.182838443T>C	CA349750269	FRZB	c.763A>G (p.Ile255Val)	gnomAD v4
2	g.182838443T>G	CA349750270	FRZB	c.763A>C (p.Ile255Leu)
2	g.182838444A=	CA1312515849	FRZB	c.762T= (p.Tyr254=)
2	g.182838444A>C	CA349750275	FRZB	c.762T>G (p.Tyr254Ter)
2	g.182838444A>G	CA2013940	FRZB	c.762T>C (p.Tyr254=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.182838444A>T	CA349750272	FRZB	c.762T>A (p.Tyr254Ter)
2	g.182838445T>A	CA349750278	FRZB	c.761A>T (p.Tyr254Phe)
2	g.182838445T>C	CA349750280	FRZB	c.761A>G (p.Tyr254Cys)	gnomAD v4
2	g.182838445T>G	CA349750282	FRZB	c.761A>C (p.Tyr254Ser)
2	g.182838446A>C	CA349750284	FRZB	c.760T>G (p.Tyr254Asp)
2	g.182838446A>G	CA349750285	FRZB	c.760T>C (p.Tyr254His)	COSMIC
2	g.182838446A>T	CA349750287	FRZB	c.760T>A (p.Tyr254Asn)

Number of alleles fetched