Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.71431368G>A	CA224320351	DHCR7	c.320-2516C>T	dbSNP gnomAD v3 gnomAD v4
11	g.71431368G=	CA1981484951	DHCR7	c.320-2516C=
11	g.71431375C=	CA1981484952	DHCR7	c.320-2523G=
11	g.71431375C>G	CA939370178	DHCR7	c.320-2523G>C	dbSNP gnomAD v3 gnomAD v4
11	g.71431376C=	CA1981484953	DHCR7	c.320-2524G=
11	g.71431376C>T	CA1981484954	DHCR7	c.320-2524G>A	dbSNP
11	g.71431377G>A	CA224320352	DHCR7	c.320-2525C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431377G>C	CA224320353	DHCR7	c.320-2525C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431377G=	CA1981484955	DHCR7	c.320-2525C=
11	g.71431377G>T	CA2792628013	DHCR7	c.320-2525C>A
11	g.71431378G>A	CA224320354	DHCR7	c.320-2526C>T	dbSNP gnomAD v3 gnomAD v4
11	g.71431378G=	CA1981484956	DHCR7	c.320-2526C=
11	g.71431381A=	CA1981484957	DHCR7	c.320-2529T=
11	g.71431381A>G	CA1981484958	DHCR7	c.320-2529T>C	dbSNP
11	g.71431386_71431388delinsCCT	CA1981484959	DHCR7	c.320-2536_320-2534delinsAGG
11	g.71431387C=	CA1981484960	DHCR7	c.320-2535G=
11	g.71431387C>T	CA600050960	DHCR7	c.320-2535G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431389_71431390del	CA224320372	DHCR7	c.320-2536_320-2535del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431390T>C	CA224320373	DHCR7	c.320-2538A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431390T=	CA1981484961	DHCR7	c.320-2538A=
11	g.71431392T>C	CA224320374	DHCR7	c.320-2540A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431392T=	CA1981484962	DHCR7	c.320-2540A=
11	g.71431394T>A	CA679808378	DHCR7	c.320-2542A>T	dbSNP gnomAD v3 gnomAD v4
11	g.71431394T=	CA1981484963	DHCR7	c.320-2542A=
11	g.71431395G>C	CA679808379	DHCR7	c.320-2543C>G	dbSNP gnomAD v3 gnomAD v4
11	g.71431395G=	CA1981484964	DHCR7	c.320-2543C=
11	g.71431401C>T	CA2508792059	DHCR7	c.320-2549G>A
11	g.71431407G>A	CA1981484966	DHCR7	c.320-2555C>T	dbSNP
11	g.71431407G=	CA1981484965	DHCR7	c.320-2555C=
11	g.71431408C=	CA1981484967	DHCR7	c.320-2556G=
11	g.71431408C>T	CA224320375	DHCR7	c.320-2556G>A	dbSNP
11	g.71431409_71431419delinsTGCCTCCTGTC	CA1981484968	DHCR7	c.320-2567_320-2557delinsGACAGGAGGCA
11	g.71431410G>A	CA939370198	DHCR7	c.320-2558C>T	dbSNP gnomAD v3 gnomAD v4
11	g.71431410G=	CA1981484969	DHCR7	c.320-2558C=
11	g.71431412_71431421del	CA1981484970	DHCR7	c.320-2567_320-2558del	dbSNP
11	g.71431414C=	CA1981484971	DHCR7	c.320-2562G=
11	g.71431414C>T	CA679808383	DHCR7	c.320-2562G>A	dbSNP gnomAD v3 gnomAD v4
11	g.71431417G>A	CA224320378	DHCR7	c.320-2565C>T	dbSNP
11	g.71431417G=	CA1981484972	DHCR7	c.320-2565C=
11	g.71431418T>C	CA939370199	DHCR7	c.320-2566A>G	dbSNP gnomAD v3 gnomAD v4
11	g.71431418T=	CA1981484973	DHCR7	c.320-2566A=
11	g.71431419C=	CA1981484974	DHCR7	c.320-2567G=
11	g.71431419C>G	CA679808387	DHCR7	c.320-2567G>C	dbSNP gnomAD v3 gnomAD v4
11	g.71431419C>T	CA224320379	DHCR7	c.320-2567G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.71431419_71431420insTGCTGGGCATTTGGCT	CA224320401	DHCR7	c.320-2568_320-2567insAGCCAAATGCCCAGCA	dbSNP gnomAD v3 gnomAD v4
11	g.71431420G>A	CA224320391	DHCR7	c.320-2568C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431420G>C	CA224320383	DHCR7	c.320-2568C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431420G=	CA1981484975	DHCR7	c.320-2568C=
11	g.71431423A>G	CA2598895445	DHCR7	c.320-2571T>C	dbSNP gnomAD v3 gnomAD v4
11	g.71431425C>A	CA1981484977	DHCR7	c.320-2573G>T	dbSNP
11	g.71431425C=	CA1981484976	DHCR7	c.320-2573G=
11	g.71431426A=	CA1981484978	DHCR7	c.320-2574T=
11	g.71431426A>T	CA224320402	DHCR7	c.320-2574T>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431426_71431439delinsACTGACGCCCACCT	CA1981484979	DHCR7	c.320-2587_320-2574delinsAGGTGGGCGTCAGT
11	g.71431432_71431444del	CA1981484980	DHCR7	c.320-2587_320-2575del	dbSNP
11	g.71431428T>C	CA1981484982	DHCR7	c.320-2576A>G	dbSNP
11	g.71431428T=	CA1981484981	DHCR7	c.320-2576A=
11	g.71431431C=	CA1981484983	DHCR7	c.320-2579G=
11	g.71431431C>T	CA224320403	DHCR7	c.320-2579G>A	dbSNP gnomAD v3 gnomAD v4
11	g.71431432G>A	CA679808404	DHCR7	c.320-2580C>T	dbSNP
11	g.71431432G=	CA1981484984	DHCR7	c.320-2580C=
11	g.71431433C=	CA1981484985	DHCR7	c.320-2581G=
11	g.71431433C>T	CA224320405	DHCR7	c.320-2581G>A	dbSNP gnomAD v3 gnomAD v4
11	g.71431435C=	CA1981484986	DHCR7	c.320-2583G=
11	g.71431435C>T	CA224320407	DHCR7	c.320-2583G>A	dbSNP gnomAD v3 gnomAD v4
11	g.71431436A=	CA1981484987	DHCR7	c.320-2584T=
11	g.71431436A>G	CA1981484988	DHCR7	c.320-2584T>C	dbSNP
11	g.71431437C>A	CA224320420	DHCR7	c.320-2585G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431437C=	CA1981484989	DHCR7	c.320-2585G=
11	g.71431439T>C	CA1981484991	DHCR7	c.320-2587A>G	dbSNP
11	g.71431439T=	CA1981484990	DHCR7	c.320-2587A=
11	g.71431441T>C	CA2724530204	DHCR7	c.320-2589A>G	dbSNP
11	g.71431445A=	CA1981484992	DHCR7	c.320-2593T=
11	g.71431445A>T	CA679808410	DHCR7	c.320-2593T>A	dbSNP gnomAD v3 gnomAD v4
11	g.71431447T>A	CA1981484994	DHCR7	c.320-2595A>T	dbSNP
11	g.71431447T=	CA1981484993	DHCR7	c.320-2595A=
11	g.71431448A>C	CA2724530227	DHCR7	c.320-2596T>G	dbSNP
11	g.71431450T>G	CA1981484996	DHCR7	c.320-2598A>C	dbSNP
11	g.71431450T=	CA1981484995	DHCR7	c.320-2598A=
11	g.71431451C=	CA1981484997	DHCR7	c.320-2599G=
11	g.71431451C>T	CA224320426	DHCR7	c.320-2599G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.71431454G>C	CA1981484999	DHCR7	c.320-2602C>G	dbSNP
11	g.71431454G=	CA1981484998	DHCR7	c.320-2602C=
11	g.71431456C>A	CA1981485001	DHCR7	c.320-2604G>T	dbSNP
11	g.71431456C=	CA1981485000	DHCR7	c.320-2604G=
11	g.71431466T>C	CA2505714284	DHCR7	c.320-2614A>G
11	g.71431467G>A	CA224320427	DHCR7	c.320-2615C>T	dbSNP gnomAD v3 gnomAD v4
11	g.71431467G=	CA1981485002	DHCR7	c.320-2615C=

Number of alleles fetched