Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.11267835_11268023del	CA603493880	PRB3	c.279_467del (p.Pro94_Pro156del) n.286_474del	dbSNP gnomAD v2 gnomAD v4
12	g.11267820_11268007delinsTCCTTCTGGCTTTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTTGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTG	CA2016334848	PRB3	c.242_429delinsCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCGCCTCGTCCGGGAAAGCCAGAAGGA (p.Pro81=) n.249_436delinsCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCGCCTCGTCCGGGAAAGCCAGAAGGA
12	g.11267821_11268007del	CA603493887	PRB3	c.242_428del (p.Pro81HisfsTer?) n.249_435del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267898_11268023del	CA603493889	PRB3	c.279_404del (p.Pro94_Pro135del) n.286_411del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267881_11268069del	CA2617663930	PRB3	c.195_383del (p.Asn66_Gly128del) n.202_390del	gnomAD v4
12	g.11267944_11268006del	CA6452168	PRB3	c.305_367del (p.Gln102_Gly122del) n.312_374del	ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267898_11268086del	CA2617663934	PRB3	c.179_367del (p.Arg60_Gly122del) n.186_374del	gnomAD v4
12	g.11267884_11268007del	CA6452170	PRB3	c.242_365del (p.Pro81HisfsTer?) n.249_372del	ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267885_11268007del	CA2617663939	PRB3	c.242_364del (p.Pro81_Gly122delinsArg) n.249_371del	gnomAD v4
12	g.11267928_11268053del	CA603493892	PRB3	c.225_350del (p.Gly76_Pro117del) n.232_357del	gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267902_11268007del	CA2617663942	PRB3	c.242_347del (p.Pro81LeufsTer?) n.249_354del	gnomAD v4
12	g.11267915_11268033del	CA603493894	PRB3	c.216_334del (p.Pro73SerfsTer?) n.223_341del	gnomAD v2 gnomAD v4
12	g.11268006_11268007insTGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTGCCTCCTTGTGGGGGTTGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGT	CA2617663949	PRB3	c.320_321insCAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACAACCCCCACAAGGAGG (p.Gly107_Asn108insAsnGlnSerGlnGlyProProProArgProGlyLysProGluGlyGlnProProGlnGlyGlyAsnGlnSerGlnGlyProProProArgProGlyLysProGluGlyGlnProProGlnGlyGly) n.327_328insCAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACAACCCCCACAAGGAGG	gnomAD v4
12	g.11267944_11268069del	CA478842185	PRB3	c.195_320del (p.Asn66_Gly107del) n.202_327del	gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267944_11268007delinsTGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTG	CA2016334916	PRB3	c.242_305delinsCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACA (p.Pro81=) n.249_312delinsCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACA
12	g.11268006_11268007insCGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGT	CA2617663954	PRB3	c.304_305insGACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGAC (p.Gly101_Gln102insArgProProGlnGlyGlyAsnGlnSerGlnGlyProProProArgProGlyLysProGluGly) n.311_312insGACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGAC	gnomAD v4
12	g.11267961_11268023del	CA6452188	PRB3	c.242_304del (p.Pro81_Gly101del) n.249_311del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267961_11268086del	CA2525320510	PRB3	c.179_304del (p.Arg60_Gly101del) n.186_311del
12	g.11267946_11268070del	CA2617663955	PRB3	c.179_303del (p.Arg60ProfsTer?) n.186_310del	gnomAD v4
12	g.11267948_11268007del	CA2617663956	PRB3	c.242_301del (p.Pro81_Gly101delinsArg) n.249_308del	gnomAD v4
12	g.11268021_11268022insTCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTT	CA2617663959	PRB3	c.289_290insAAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGG (p.Pro96_Gly97insGluLysProGluGlyProProProGlnGlyGlyAsnGlnSerGlnGlyProProProArgPro) n.296_297insAAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCGG	gnomAD v4
12	g.11267961_11268024delinsCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCT	CA2016334928	PRB3	c.225_288delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG (p.Pro75=) n.232_295delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG
12	g.11268006_11268007insTGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGT	CA2617663961	PRB3	c.287_288insAGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCC (p.Pro96_Gly97insGlyLysProGluGlyGlnProProGlnGlyGlyAsnGlnSerGlnGlyProProProArgPro) n.294_295insAGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCC	gnomAD v4
12	g.11268023_11268024insAGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCC	CA2617663963	PRB3	c.287_288insTGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCC (p.Pro96_Gly97insGlyLysProGluGlyProProProGlnGlyGlyAsnGlnSerGlnGlyProProProArgPro) n.294_295insTGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCC	gnomAD v4
12	g.11268053_11268054insTCCTCCTTGTGGGGGTTGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTT	CA2617663962	PRB3	c.287_288insAGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCC (p.Pro96_Gly97insGlyLysProGluGlyGlnProProGlnGlyGlyAsnGlnSerGlnGlyProProProArgProGlyLysProGluGlyProProProGlnGlyGlyAsnGlnSerGlnGlyProProProArgPro) n.294_295insAGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCC	gnomAD v4
12	g.11267991_11268053dup	CA603493901	PRB3	c.225_287dup (p.Pro96_Gly97insGlyLysProGluGlyProProProGlnGlyGlyAsnGlnSerGlnGlyProProProArgPro) n.232_294dup	gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267991_11268053del	CA6452195	PRB3	c.225_287del (p.Gly76_Pro96del) n.232_294del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267965_11268008del	CA2617663964	PRB3	c.241_284del (p.Pro81SerfsTer?) n.248_291del	gnomAD v4
12	g.11268023_11268024insCGGATGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCC	CA2794552892	PRB3	c.283_284insATCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTC (p.Pro94_Arg95insHisProGlyLysProGluGlyProProProGlnGlyGlyAsnGlnSerGlnGlyProProPro) n.290_291insATCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTC
12	g.11268027_11268028insGGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGA	CA2617663965	PRB3	c.283_284insCTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTC (p.Pro94_Arg95insProProGlyLysProGluGlyProProProGlnGlyGlyAsnGlnSerGlnGlyProProPro) n.290_291insCTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTC	gnomAD v4
12	g.11268027_11268028insTGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGA	CA2794552893	PRB3	c.283_284insATCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTC (p.Pro94_Arg95insHisProGlyLysProGluGlyProProProGlnGlyGlyAsnGlnSerGlnGlyProProPro) n.290_291insATCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTC
12	g.11268023_11268024insCGGATGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCC	CA603493902	PRB3	c.278_279insGCCTCATCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCC (p.Pro93_Pro94insProHisProGlyLysProGluGlyProProProGlnGlyGlyAsnGlnSerGlnGlyProPro) n.285_286insGCCTCATCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCC	gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267976_11268008delinsACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGG	CA2016334940	PRB3	c.241_273delinsCCACCCCCACAAGGAGGAAACCAGTCCCAAGGT (p.Pro81=) n.248_280delinsCCACCCCCACAAGGAGGAAACCAGTCCCAAGGT
12	g.11267977_11268008del	CA6452206	PRB3	c.241_272del (p.Pro81SerfsTer?) n.248_279del	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.11267991_11268054delinsTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTG	CA2016334955	PRB3	c.195_258delinsCAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGA (p.Gly65=) n.202_265delinsCAACCAGTCCCAAGGTCCCCCACCTCGTCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGA
12	g.11268010_11268011insTTTCTGGCTTTCCTGGATGAGGTGGGGGACCTTGGGACTGGTTGCCTCCTTGTGGGGGTGGTC	CA2617663968	PRB3	c.257_258insCAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGG (p.Gly86_Asn87insAsnGlnSerGlnGlyProProProHisProGlyLysProGluArgProProProGlnGlyGly) n.264_265insCAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGG	gnomAD v4
12	g.11268023_11268024insCGGACGAGGTGGGGGACCTTGGGACTGGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCC	CA603493903	PRB3	c.257_258insCAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGG (p.Gly86_Asn87insAsnGlnSerGlnGlyProProProArgProGlyLysProGluGlyProProProGlnGlyGly) n.264_265insCAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGG	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.11268027_11268028insTGAGGTGGGGGACCTTGGGACTGGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGA	CA2617663967	PRB3	c.257_258insCAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGG (p.Gly86_Asn87insAsnGlnSerGlnGlyProProProHisProGlyLysProGluGlyProProProGlnGlyGly) n.264_265insCAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGAAGGACCACCCCCACAAGGAGG	gnomAD v4
12	g.11268007_11268069dup	CA944748325	PRB3	c.195_257dup (p.Gly86_Asn87insAsnGlnSerGlnGlyProProProArgProGlyLysProGluGlyProProProGlnGlyGly) n.202_264dup	dbSNP gnomAD v3 gnomAD v4
12	g.11268007_11268069del	CA6452209	PRB3	c.195_257del (p.Asn66_Gly86del) n.202_264del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.11267994_11268024del	CA944748340	PRB3	c.225_255del (p.Gly76GlufsTer?) n.232_262del	gnomAD v3 gnomAD v4
12	g.11268005dup	CA2617663969	PRB3	c.248dup (p.Gln84ThrfsTer?) n.255dup	gnomAD v4
12	g.11268005del	CA6452213	PRB3	c.248del (p.Pro83HisfsTer?) n.255del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.11268004G>A	CA383930957	PRB3	c.245C>T (p.Pro82Leu) n.252C>T	dbSNP
12	g.11268004G>C	CA383930960	PRB3	c.245C>G (p.Pro82Arg) n.252C>G	gnomAD v3 gnomAD v4 COSMIC COSMIC
12	g.11268004G=	CA2016334964	PRB3	c.245C= (p.Pro82=) n.252C=
12	g.11268004G>T	CA383930962	PRB3	c.245C>A (p.Pro82His) n.252C>A	gnomAD v4
12	g.11268004_11268009del	CA2617663970	PRB3	c.240_245del (p.Pro81_Pro82del) n.247_252del	gnomAD v4
12	g.11268005G>A	CA232953026	PRB3	c.244C>T (p.Pro82Ser) n.251C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.11268005G>C	CA383930963	PRB3	c.244C>G (p.Pro82Ala) n.251C>G

Number of alleles fetched