Allele Registry

Chr	Mutation (hg38)	CAid	Transcript	Linkouts
17	g.50211524C>A	CA2809771327	n.42+2118C>A
17	g.50211524C=	CA2263926822	n.42+2118C=
17	g.50211524C>G	CA2263926823	n.42+2118C>G	dbSNP
17	g.50211528C=	CA2263926824	n.42+2122C=
17	g.50211528C>G	CA2263926825	n.42+2122C>G	dbSNP
17	g.50211528C>T	CA2263926826	n.42+2122C>T	dbSNP
17	g.50211531C=	CA2263926827	n.42+2125C=
17	g.50211531C>T	CA2263926828	n.42+2125C>T	dbSNP
17	g.50211532C=	CA2263926829	n.42+2126C=
17	g.50211532C>T	CA984456173	n.42+2126C>T	dbSNP gnomAD v3 gnomAD v4
17	g.50211533C=	CA2263926830	n.42+2127C=
17	g.50211533C>T	CA291560715	n.42+2127C>T	dbSNP gnomAD v3 gnomAD v4
17	g.50211538T>C	CA772782525	n.42+2132T>C	dbSNP gnomAD v3 gnomAD v4
17	g.50211538T=	CA2263926831	n.42+2132T=
17	g.50211541C>A	CA2263926833	n.42+2135C>A	dbSNP
17	g.50211541C=	CA2263926832	n.42+2135C=
17	g.50211543T>G	CA2809771328	n.42+2137T>G
17	g.50211546C>A	CA772782526	n.42+2140C>A	dbSNP gnomAD v3 gnomAD v4
17	g.50211546C=	CA2263926834	n.42+2140C=
17	g.50211546C>T	CA2595039432	n.42+2140C>T	dbSNP gnomAD v3 gnomAD v4
17	g.50211550T>G	CA2809771329	n.42+2144T>G
17	g.50211551_50211565delinsTCCAATCATACCTCC	CA2263926835	n.42+2145_42+2159delinsTCCAATCATACCTCC
17	g.50211552C>A	CA2809771330	n.42+2146C>A
17	g.50211554_50211567del	CA291560719	n.42+2148_42+2161del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211554A>C	CA984456179	n.42+2148A>C	gnomAD v3 gnomAD v4
17	g.50211554A>T	CA984456181	n.42+2148A>T	gnomAD v3 gnomAD v4
17	g.50211555A=	CA2263926836	n.42+2149A=
17	g.50211555A>G	CA2263926837	n.42+2149A>G	dbSNP
17	g.50211558A>C	CA984456182	n.42+2152A>C	gnomAD v3 gnomAD v4
17	g.50211559T>G	CA2809771331	n.42+2153T>G
17	g.50211560A=	CA2263926838	n.42+2154A=
17	g.50211560A>C	CA984456183	n.42+2154A>C	gnomAD v3 gnomAD v4
17	g.50211560A>G	CA984456184	n.42+2154A>G	dbSNP gnomAD v3 gnomAD v4
17	g.50211560A>T	CA984456186	n.42+2154A>T	gnomAD v3 gnomAD v4
17	g.50211562C=	CA2263926839	n.42+2156C=
17	g.50211562C>G	CA984456190	n.42+2156C>G	dbSNP gnomAD v3 gnomAD v4
17	g.50211562C>T	CA984456189	n.42+2156C>T	dbSNP gnomAD v3 gnomAD v4
17	g.50211563T>A	CA291560724	n.42+2157T>A	dbSNP
17	g.50211563T=	CA2263926840	n.42+2157T=
17	g.50211564C=	CA2263926841	n.42+2158C=
17	g.50211564C>G	CA2263926842	n.42+2158C>G	dbSNP
17	g.50211568dup	CA626487301	n.42+2162dup	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211570_50211576dup	CA626487302	n.42+2164_42+2170dup	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211565C>A	CA772782539	n.42+2159C>A	dbSNP gnomAD v3 gnomAD v4
17	g.50211565C=	CA2263926844	n.42+2159C=
17	g.50211565C>T	CA2263926843	n.42+2159C>T	dbSNP
17	g.50211569_50211574del	CA984456196	n.42+2163_42+2168del	gnomAD v3 gnomAD v4
17	g.50211566C>T	CA2733842356	n.42+2160C>T	dbSNP
17	g.50211568_50211570delinsCAG	CA2263926845	n.42+2162_42+2164delinsCAG
17	g.50211569del	CA984456200	n.42+2163del	gnomAD v3 gnomAD v4
17	g.50211569A=	CA2263926846	n.42+2163A=
17	g.50211569A>C	CA626487305	n.42+2163A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211569A>T	CA2809771332	n.42+2163A>T
17	g.50211569dup	CA984456198	n.42+2163dup	gnomAD v3 gnomAD v4
17	g.50211569_50211570del	CA626487304	n.42+2163_42+2164del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211569_50211570insC	CA984456207	n.42+2163_42+2164insC	gnomAD v3 gnomAD v4
17	g.50211570del	CA2595039434	n.42+2164del	gnomAD v3 gnomAD v4
17	g.50211570G>A	CA626487306	n.42+2164G>A	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211570G>C	CA626487307	n.42+2164G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211570G=	CA2263926847	n.42+2164G=
17	g.50211570G>T	CA984456212	n.42+2164G>T	gnomAD v3 gnomAD v4
17	g.50211571C=	CA2263926848	n.42+2165C=
17	g.50211571C>G	CA2540302858	n.42+2165C>G
17	g.50211571C>T	CA2263926849	n.42+2165C>T	dbSNP
17	g.50211575_50211576insCCCCCCC	CA984456218	n.42+2169_42+2170insCCCCCCC	gnomAD v3 gnomAD v4
17	g.50211575_50211576insCCCCCCCCC	CA2809771333	n.42+2169_42+2170insCCCCCCCCC
17	g.50211575dup	CA626487308	n.42+2169dup	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211573_50211575dup	CA626487309	n.42+2167_42+2169dup	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211572_50211575dup	CA984456230	n.42+2166_42+2169dup	gnomAD v3 gnomAD v4
17	g.50211571_50211575dup	CA984456231	n.42+2165_42+2169dup	gnomAD v3 gnomAD v4
17	g.50211572C>A	CA772782585	n.42+2166C>A	dbSNP gnomAD v3 gnomAD v4
17	g.50211572C=	CA2263926850	n.42+2166C=
17	g.50211573C>A	CA2555550489	n.42+2167C>A
17	g.50211574C>A	CA291560725	n.42+2168C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211574C=	CA2263926851	n.42+2168C=
17	g.50211575C=	CA2263926852	n.42+2169C=
17	g.50211575C>T	CA984456235	n.42+2169C>T	dbSNP gnomAD v3 gnomAD v4
17	g.50211576del	CA626487310	n.42+2170del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211576A=	CA2263926853	n.42+2170A=
17	g.50211576A>C	CA626487311	n.42+2170A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211576A>T	CA984456241	n.42+2170A>T	gnomAD v3 gnomAD v4
17	g.50211577C=	CA2263926854	n.42+2171C=
17	g.50211577C>T	CA2263926855	n.42+2171C>T	dbSNP
17	g.50211580dup	CA984456243	n.42+2174dup	gnomAD v3 gnomAD v4
17	g.50211579C=	CA2263926856	n.42+2173C=
17	g.50211579C>G	CA400232940	n.42+2173C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211579C>T	CA400232942	n.42+2173C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211580_50211581insCCTTTGCC	CA984456250	n.42+2174_42+2175insCCTTTGCC	gnomAD v3 gnomAD v4
17	g.50211580_50211581insCCCCCCCTTAACC	CA984456255	n.42+2174_42+2175insCCCCCCCTTAACC	gnomAD v3 gnomAD v4
17	g.50211580_50211581insCCCCCCCTTTGCC	CA984456253	n.42+2174_42+2175insCCCCCCCTTTGCC	gnomAD v3 gnomAD v4
17	g.50211580_50211581insCCCCCCCTTTTCC	CA984456252	n.42+2174_42+2175insCCCCCCCTTTTCC	gnomAD v3 gnomAD v4
17	g.50211580_50211581insCCCCCCTTTTGCC	CA984456248	n.42+2174_42+2175insCCCCCCTTTTGCC	gnomAD v3 gnomAD v4
17	g.50211580_50211581insCCCCCCCCCTTTGCC	CA984456258	n.42+2174_42+2175insCCCCCCCCCTTTGCC	gnomAD v3 gnomAD v4
17	g.50211580_50211581insCCCCCCCCCTTTTCC	CA984456257	n.42+2174_42+2175insCCCCCCCCCTTTTCC	gnomAD v3 gnomAD v4
17	g.50211580_50211581insCCCCCCCCCTTTTGCC	CA626487313	n.42+2174_42+2175insCCCCCCCCCTTTTGCC	gnomAD v2
17	g.50211581del	CA626487314	n.42+2175del	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211581A=	CA2263926857	n.42+2175A=
17	g.50211581A>C	CA291560726	n.42+2175A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.50211581A>T	CA984456267	n.42+2175A>T	gnomAD v3 gnomAD v4
17	g.50211581_50211582insGCCC	CA984456281	n.42+2175_42+2176insGCCC	gnomAD v3 gnomAD v4
17	g.50211581_50211582insGGCCC	CA2809771334	n.42+2175_42+2176insGGCCC
17	g.50211582C=	CA2263926858	n.42+2176C=
17	g.50211582C>T	CA2263926859	n.42+2176C>T	dbSNP
17	g.50211586_50211587insCTTTGCCCCCCCC	CA984456274	n.42+2180_42+2181insCTTTGCCCCCCCC	gnomAD v3 gnomAD v4
17	g.50211586_50211587insCTTTGCCCCCCCCC	CA984456277	n.42+2180_42+2181insCTTTGCCCCCCCCC	gnomAD v3 gnomAD v4
17	g.50211586dup	CA984456271	n.42+2180dup	gnomAD v3 gnomAD v4
17	g.50211583C=	CA2263926860	n.42+2177C=
17	g.50211583C>G	CA772782600	n.42+2177C>G	dbSNP gnomAD v3 gnomAD v4
17	g.50211585C=	CA2263926861	n.42+2179C=
17	g.50211585C>G	CA291560727	n.42+2179C>G	dbSNP gnomAD v3 gnomAD v4
17	g.50211586C>A	CA772782603	n.42+2180C>A	dbSNP
17	g.50211586C=	CA2263926862	n.42+2180C=
17	g.50211586C>T	CA291560732	n.42+2180C>T	dbSNP gnomAD v3 gnomAD v4
17	g.50211587_50211595del	CA626487315	n.42+2181_42+2189del	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211586_50211587insCT	CA626487316	n.42+2180_42+2181insCT	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211586_50211587insCCCA	CA2595039437	n.42+2180_42+2181insCCCA	gnomAD v3 gnomAD v4
17	g.50211586_50211587insCCCT	CA914183752	n.42+2180_42+2181insCCCT	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211587T>A	CA984456306	n.42+2181T>A	dbSNP gnomAD v3 gnomAD v4
17	g.50211587T>C	CA626487317	n.42+2181T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211587T=	CA2263926863	n.42+2181T=
17	g.50211587_50211590del	CA984456299	n.42+2181_42+2184del	dbSNP gnomAD v3 gnomAD v4
17	g.50211587_50211591del	CA984456301	n.42+2181_42+2185del	gnomAD v3 gnomAD v4
17	g.50211587_50211594del	CA984456302	n.42+2181_42+2188del	gnomAD v3 gnomAD v4
17	g.50211587_50211598del	CA984456303	n.42+2181_42+2192del	gnomAD v3 gnomAD v4
17	g.50211588T>A	CA984456311	n.42+2182T>A	gnomAD v3 gnomAD v4
17	g.50211588T>C	CA2809771335	n.42+2182T>C
17	g.50211589T>C	CA984456312	n.42+2183T>C	dbSNP gnomAD v3 gnomAD v4
17	g.50211589T=	CA2263926864	n.42+2183T=
17	g.50211590del	CA626487318	n.42+2184del	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211590A=	CA2263926865	n.42+2184A=
17	g.50211590A>C	CA984456319	n.42+2184A>C	gnomAD v3 gnomAD v4
17	g.50211590A>G	CA984456320	n.42+2184A>G	gnomAD v3 gnomAD v4
17	g.50211590A>T	CA626487319	n.42+2184A>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211590_50211591del	CA626487320	n.42+2184_42+2185del	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211591del	CA626487321	n.42+2185del	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211591G>A	CA984456324	n.42+2185G>A	gnomAD v3 gnomAD v4
17	g.50211591G>C	CA626487323	n.42+2185G>C	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211591G>T	CA626487322	n.42+2185G>T	gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211592C>A	CA984456326	n.42+2186C>A	dbSNP gnomAD v3 gnomAD v4
17	g.50211592C=	CA2263926866	n.42+2186C=
17	g.50211593C>A	CA772782625	n.42+2187C>A	dbSNP gnomAD v3 gnomAD v4
17	g.50211593C=	CA2263926867	n.42+2187C=
17	g.50211594A=	CA2263926868	n.42+2188A=
17	g.50211594A>C	CA626487324	n.42+2188A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211595C>A	CA291560751	n.42+2189C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211595C=	CA2263926869	n.42+2189C=
17	g.50211596C>A	CA2595039440	n.42+2190C>A	dbSNP gnomAD v3 gnomAD v4
17	g.50211597C=	CA2263926870	n.42+2191C=
17	g.50211597C>G	CA2733668298	n.42+2191C>G	dbSNP
17	g.50211597C>T	CA772782631	n.42+2191C>T	dbSNP
17	g.50211598T>A	CA2733664481	n.42+2192T>A	dbSNP
17	g.50211598T>C	CA626487325	n.42+2192T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211598T=	CA2263926871	n.42+2192T=
17	g.50211598_50211602del	CA2733842639	n.42+2192_42+2196del	dbSNP
17	g.50211599C>A	CA291560756	n.42+2193C>A	dbSNP
17	g.50211599C=	CA2263926872	n.42+2193C=
17	g.50211599C>T	CA984456337	n.42+2193C>T	gnomAD v3 gnomAD v4
17	g.50211600T>C	CA984456346	n.42+2194T>C	gnomAD v3 gnomAD v4
17	g.50211603A=	CA2263926873	n.42+2197A=
17	g.50211603A>C	CA984456355	n.42+2197A>C	gnomAD v3 gnomAD v4
17	g.50211603A>G	CA772782638	n.42+2197A>G	dbSNP gnomAD v3 gnomAD v4
17	g.50211603A>T	CA626487326	n.42+2197A>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.50211604C>A	CA772782640	n.42+2198C>A	dbSNP gnomAD v3 gnomAD v4
17	g.50211604C=	CA2263926874	n.42+2198C=
17	g.50211605A=	CA2263926875	n.42+2199A=
17	g.50211605A>C	CA984456362	n.42+2199A>C	dbSNP gnomAD v3 gnomAD v4
17	g.50211606T>A	CA2733842641	n.42+2200T>A	dbSNP
17	g.50211607T>G	CA2809771336	n.42+2201T>G
17	g.50211607_50211608insAAAA	CA2733842644	n.42+2201_42+2202insAAAA	dbSNP
17	g.50211609C>T	CA2595039441	n.42+2203C>T	dbSNP gnomAD v3 gnomAD v4
17	g.50211609_50211611del	CA2733842731	n.42+2203_42+2205del	dbSNP
17	g.50211611C>A	CA2733843042	n.42+2205C>A	dbSNP
17	g.50211613A=	CA2263926876	n.42+2207A=
17	g.50211613A>C	CA984456365	n.42+2207A>C	gnomAD v3 gnomAD v4
17	g.50211613A>T	CA984456371	n.42+2207A>T	dbSNP gnomAD v3 gnomAD v4
17	g.50211613_50211614insAAAA	CA2733843046	n.42+2207_42+2208insAAAA	dbSNP
17	g.50211614C>A	CA2263926878	n.42+2208C>A	dbSNP
17	g.50211614C=	CA2263926877	n.42+2208C=
17	g.50211614C>G	CA2263926879	n.42+2208C>G	dbSNP
17	g.50211615T>A	CA2733843309	n.42+2209T>A	dbSNP
17	g.50211618T>C	CA2809771337	n.42+2212T>C
17	g.50211619G>C	CA2263926881	n.42+2213G>C	dbSNP
17	g.50211619G=	CA2263926880	n.42+2213G=
17	g.50211619G>T	CA2809771338	n.42+2213G>T
17	g.50211620G>T	CA2733843310	n.43-2215G>T	dbSNP
17	g.50211623C=	CA2263926882	n.43-2212C=
17	g.50211623C>G	CA772782643	n.43-2212C>G	dbSNP gnomAD v3 gnomAD v4
17	g.50211623C>T	CA291560769	n.43-2212C>T	dbSNP
17	g.50211629_50211631del	CA2595039442	n.43-2206_43-2204del	gnomAD v3 gnomAD v4

Number of alleles fetched