Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72123598_72123610del	CA2580060342	SOX9	c.741_753del (p.Gly248Ter)
17	g.72123600G>A	CA400866953	SOX9	c.743G>A (p.Gly248Asp)	dbSNP gnomAD v4
17	g.72123600G>C	CA400866955	SOX9	c.743G>C (p.Gly248Ala)	dbSNP
17	g.72123600G>T	CA400866954	SOX9	c.743G>T (p.Gly248Val)	COSMIC
17	g.72123600_72123601dup	CA645598914	SOX9	c.743_744dup (p.Lys249AlafsTer5)	COSMIC
17	g.72123601C>A	CA501352002	SOX9	c.744C>A (p.Gly248=)	dbSNP
17	g.72123601C=	CA2273926359	SOX9	c.744C= (p.Gly248=)
17	g.72123601C>G	CA501352003	SOX9	c.744C>G (p.Gly248=)	dbSNP
17	g.72123601C>T	CA501352004	SOX9	c.744C>T (p.Gly248=)	dbSNP
17	g.72123602A=	CA2273926360	SOX9	c.745A= (p.Lys249=)
17	g.72123602A>C	CA400866956	SOX9	c.745A>C (p.Lys249Gln)	dbSNP gnomAD v4
17	g.72123602A>G	CA400866957	SOX9	c.745A>G (p.Lys249Glu)	dbSNP
17	g.72123602A>T	CA400866958	SOX9	c.745A>T (p.Lys249Ter)
17	g.72123603A>C	CA400866959	SOX9	c.746A>C (p.Lys249Thr)
17	g.72123603A>G	CA400866960	SOX9	c.746A>G (p.Lys249Arg)	dbSNP
17	g.72123603A>T	CA400866961	SOX9	c.746A>T (p.Lys249Met)	dbSNP
17	g.72123604G>A	CA501352006	SOX9	c.747G>A (p.Lys249=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123604G>C	CA400866962	SOX9	c.747G>C (p.Lys249Asn)	gnomAD v4
17	g.72123604G=	CA2273926361	SOX9	c.747G= (p.Lys249=)
17	g.72123604G>T	CA400866963	SOX9	c.747G>T (p.Lys249Asn)	dbSNP
17	g.72123605G>A	CA400866964	SOX9	c.748G>A (p.Ala250Thr)	dbSNP
17	g.72123605G>C	CA400866965	SOX9	c.748G>C (p.Ala250Pro)	dbSNP
17	g.72123605G>T	CA400866966	SOX9	c.748G>T (p.Ala250Ser)
17	g.72123606C>A	CA400866967	SOX9	c.749C>A (p.Ala250Asp)	dbSNP
17	g.72123606C>G	CA400866969	SOX9	c.749C>G (p.Ala250Gly)	dbSNP
17	g.72123606C>T	CA400866968	SOX9	c.749C>T (p.Ala250Val)	dbSNP
17	g.72123607T>A	CA501352009	SOX9	c.750T>A (p.Ala250=)	dbSNP
17	g.72123607T>C	CA501352007	SOX9	c.750T>C (p.Ala250=)	dbSNP
17	g.72123607T>G	CA501352008	SOX9	c.750T>G (p.Ala250=)	dbSNP
17	g.72123608G>A	CA400866970	SOX9	c.751G>A (p.Asp251Asn)	dbSNP
17	g.72123608G>C	CA400866971	SOX9	c.751G>C (p.Asp251His)	dbSNP
17	g.72123608G=	CA2273926362	SOX9	c.751G= (p.Asp251=)
17	g.72123608G>T	CA8739015	SOX9	c.751G>T (p.Asp251Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123609A>C	CA400866972	SOX9	c.752A>C (p.Asp251Ala)	dbSNP
17	g.72123609A>G	CA400866973	SOX9	c.752A>G (p.Asp251Gly)	dbSNP
17	g.72123609A>T	CA400866974	SOX9	c.752A>T (p.Asp251Val)	dbSNP
17	g.72123610C>A	CA400866975	SOX9	c.753C>A (p.Asp251Glu)
17	g.72123610C>G	CA400866976	SOX9	c.753C>G (p.Asp251Glu)	dbSNP
17	g.72123610C>T	CA501352010	SOX9	c.753C>T (p.Asp251=)
17	g.72123611C>A	CA400866977	SOX9	c.754C>A (p.Leu252Met)	dbSNP
17	g.72123611C>G	CA400866978	SOX9	c.754C>G (p.Leu252Val)
17	g.72123611C>T	CA501352011	SOX9	c.754C>T (p.Leu252=)
17	g.72123612T>A	CA400866979	SOX9	c.755T>A (p.Leu252Gln)	dbSNP gnomAD v4
17	g.72123612T>C	CA8739016	SOX9	c.755T>C (p.Leu252Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123612T>G	CA400866980	SOX9	c.755T>G (p.Leu252Arg)
17	g.72123612T=	CA2273926363	SOX9	c.755T= (p.Leu252=)
17	g.72123613G>A	CA501352012	SOX9	c.756G>A (p.Leu252=)	dbSNP
17	g.72123613G>C	CA501352013	SOX9	c.756G>C (p.Leu252=)	dbSNP gnomAD v4
17	g.72123613G>T	CA501352014	SOX9	c.756G>T (p.Leu252=)
17	g.72123614A>C	CA400866981	SOX9	c.757A>C (p.Lys253Gln)
17	g.72123614A>G	CA400866983	SOX9	c.757A>G (p.Lys253Glu)	dbSNP
17	g.72123614A>T	CA400866982	SOX9	c.757A>T (p.Lys253Ter)
17	g.72123615A>C	CA400866984	SOX9	c.758A>C (p.Lys253Thr)
17	g.72123615A>G	CA400866985	SOX9	c.758A>G (p.Lys253Arg)	dbSNP
17	g.72123615A>T	CA400866986	SOX9	c.758A>T (p.Lys253Met)	dbSNP
17	g.72123616G>A	CA501352017	SOX9	c.759G>A (p.Lys253=)	dbSNP
17	g.72123616G>C	CA400866987	SOX9	c.759G>C (p.Lys253Asn)	dbSNP
17	g.72123616G>T	CA400866988	SOX9	c.759G>T (p.Lys253Asn)
17	g.72123619_72123627del	CA2576374513	SOX9	c.762_770del (p.Glu255_Arg257del)
17	g.72123617C>A	CA501352018	SOX9	c.760C>A (p.Arg254=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123617C=	CA2273926364	SOX9	c.760C= (p.Arg254=)
17	g.72123617C>G	CA400866989	SOX9	c.760C>G (p.Arg254Gly)	gnomAD v4
17	g.72123617C>T	CA400866990	SOX9	c.760C>T (p.Arg254Ter)	ClinVar dbSNP COSMIC
17	g.72123618G>A	CA400866991	SOX9	c.761G>A (p.Arg254Gln)	gnomAD v4 COSMIC
17	g.72123618G>C	CA8739018	SOX9	c.761G>C (p.Arg254Pro)	dbSNP ExAC gnomAD v4
17	g.72123618G=	CA2273926365	SOX9	c.761G= (p.Arg254=)
17	g.72123618G>T	CA8739017	SOX9	c.761G>T (p.Arg254Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123621_72123622del	CA645598915	SOX9	c.764_765del (p.Glu255GlyfsTer?)	COSMIC
17	g.72123619A>C	CA501352019	SOX9	c.762A>C (p.Arg254=)
17	g.72123619A>G	CA501352020	SOX9	c.762A>G (p.Arg254=)	dbSNP
17	g.72123619A>T	CA501352021	SOX9	c.762A>T (p.Arg254=)	dbSNP
17	g.72123620G>A	CA400866993	SOX9	c.763G>A (p.Glu255Lys)	ClinVar dbSNP
17	g.72123620G>C	CA400866994	SOX9	c.763G>C (p.Glu255Gln)
17	g.72123620G>T	CA400866992	SOX9	c.763G>T (p.Glu255Ter)	dbSNP
17	g.72123621A>C	CA400866997	SOX9	c.764A>C (p.Glu255Ala)
17	g.72123621A>G	CA400866995	SOX9	c.764A>G (p.Glu255Gly)	dbSNP
17	g.72123621A>T	CA400866996	SOX9	c.764A>T (p.Glu255Val)	dbSNP
17	g.72123622G>A	CA8739019	SOX9	c.765G>A (p.Glu255=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123622G>C	CA400866998	SOX9	c.765G>C (p.Glu255Asp)
17	g.72123622G=	CA2273926366	SOX9	c.765G= (p.Glu255=)
17	g.72123622G>T	CA400866999	SOX9	c.765G>T (p.Glu255Asp)	dbSNP
17	g.72123625dup	CA501352022	SOX9	c.768dup (p.Arg257AlafsTer?)	COSMIC
17	g.72123624_72123625dup	CA645598916	SOX9	c.767_768dup (p.Arg257GlyfsTer23)	COSMIC COSMIC
17	g.72123623_72123627dup	CA645598917	SOX9	c.766_770dup (p.Pro258GlyfsTer23)	COSMIC
17	g.72123623G>A	CA400867002	SOX9	c.766G>A (p.Gly256Arg)	dbSNP
17	g.72123623G>C	CA400867001	SOX9	c.766G>C (p.Gly256Arg)	dbSNP
17	g.72123623G>T	CA400867000	SOX9	c.766G>T (p.Gly256Trp)	dbSNP
17	g.72123623_72123646dup	CA627589978	SOX9	c.766_789dup (p.Gly263_Arg264insGlyArgProLeuProGluGlyGly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123624G>A	CA400867003	SOX9	c.767G>A (p.Gly256Glu)	dbSNP
17	g.72123624G>C	CA400867004	SOX9	c.767G>C (p.Gly256Ala)	dbSNP
17	g.72123624G>T	CA400867005	SOX9	c.767G>T (p.Gly256Val)	dbSNP
17	g.72123624_72123628dup	CA2695226896	SOX9	c.767_771dup (p.Pro258GlyfsTer23)
17	g.72123625G>A	CA501352025	SOX9	c.768G>A (p.Gly256=)	dbSNP gnomAD v4
17	g.72123625G>C	CA501352023	SOX9	c.768G>C (p.Gly256=)	dbSNP gnomAD v4
17	g.72123625G>T	CA501352024	SOX9	c.768G>T (p.Gly256=)
17	g.72123627_72123628dup	CA645598918	SOX9	c.770_771dup (p.Pro258AlafsTer22)	COSMIC
17	g.72123626C>A	CA400867006	SOX9	c.769C>A (p.Arg257Ser)	dbSNP
17	g.72123626C>G	CA400867007	SOX9	c.769C>G (p.Arg257Gly)	dbSNP
17	g.72123626C>T	CA400867008	SOX9	c.769C>T (p.Arg257Cys)	dbSNP gnomAD v4
17	g.72123627G>A	CA400867009	SOX9	c.770G>A (p.Arg257His)	dbSNP gnomAD v4 COSMIC
17	g.72123627G>C	CA400867011	SOX9	c.770G>C (p.Arg257Pro)	dbSNP gnomAD v2
17	g.72123627G=	CA2273926367	SOX9	c.770G= (p.Arg257=)
17	g.72123627G>T	CA400867010	SOX9	c.770G>T (p.Arg257Leu)
17	g.72123628C>A	CA501352028	SOX9	c.771C>A (p.Arg257=)	dbSNP
17	g.72123628C>G	CA501352027	SOX9	c.771C>G (p.Arg257=)	dbSNP
17	g.72123628C>T	CA501352026	SOX9	c.771C>T (p.Arg257=)	dbSNP gnomAD v4
17	g.72123631del	CA645598920	SOX9	c.774del (p.Leu259CysfsTer20)	COSMIC
17	g.72123629C>A	CA400867012	SOX9	c.772C>A (p.Pro258Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.72123629C=	CA2273926368	SOX9	c.772C= (p.Pro258=)
17	g.72123629C>G	CA400867013	SOX9	c.772C>G (p.Pro258Ala)
17	g.72123629C>T	CA400867014	SOX9	c.772C>T (p.Pro258Ser)	ClinVar gnomAD v4
17	g.72123630C>A	CA400867015	SOX9	c.773C>A (p.Pro258His)	dbSNP
17	g.72123630C=	CA2273926369	SOX9	c.773C= (p.Pro258=)
17	g.72123630C>G	CA8739020	SOX9	c.773C>G (p.Pro258Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123630C>T	CA8739021	SOX9	c.773C>T (p.Pro258Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123631C>A	CA501352029	SOX9	c.774C>A (p.Pro258=)	dbSNP
17	g.72123631C>G	CA501352031	SOX9	c.774C>G (p.Pro258=)	dbSNP
17	g.72123631C>T	CA501352030	SOX9	c.774C>T (p.Pro258=)	dbSNP gnomAD v4
17	g.72123632T>A	CA400867016	SOX9	c.775T>A (p.Leu259Met)
17	g.72123632T>C	CA501352032	SOX9	c.775T>C (p.Leu259=)	dbSNP
17	g.72123632T>G	CA400867017	SOX9	c.775T>G (p.Leu259Val)
17	g.72123632T=	CA2273926370	SOX9	c.775T= (p.Leu259=)
17	g.72123633T>A	CA400867018	SOX9	c.776T>A (p.Leu259Ter)
17	g.72123633T>C	CA400867019	SOX9	c.776T>C (p.Leu259Ser)
17	g.72123633T>G	CA400867020	SOX9	c.776T>G (p.Leu259Trp)
17	g.72123634G>A	CA501352034	SOX9	c.777G>A (p.Leu259=)
17	g.72123634G>C	CA400867022	SOX9	c.777G>C (p.Leu259Phe)
17	g.72123634G>T	CA400867021	SOX9	c.777G>T (p.Leu259Phe)
17	g.72123635C>A	CA400867023	SOX9	c.778C>A (p.Pro260Thr)
17	g.72123635C>G	CA400867024	SOX9	c.778C>G (p.Pro260Ala)
17	g.72123635C>T	CA400867025	SOX9	c.778C>T (p.Pro260Ser)
17	g.72123636C>A	CA400867026	SOX9	c.779C>A (p.Pro260Gln)	dbSNP
17	g.72123636C=	CA2273926371	SOX9	c.779C= (p.Pro260=)
17	g.72123636C>G	CA400867027	SOX9	c.779C>G (p.Pro260Arg)	dbSNP
17	g.72123636C>T	CA400867028	SOX9	c.779C>T (p.Pro260Leu)	dbSNP
17	g.72123637A=	CA2273926372	SOX9	c.780A= (p.Pro260=)
17	g.72123637A>C	CA501352035	SOX9	c.780A>C (p.Pro260=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123637A>G	CA501352036	SOX9	c.780A>G (p.Pro260=)	dbSNP
17	g.72123637A>T	CA501352037	SOX9	c.780A>T (p.Pro260=)	dbSNP
17	g.72123638G>A	CA400867031	SOX9	c.781G>A (p.Glu261Lys)	dbSNP
17	g.72123638G>C	CA400867030	SOX9	c.781G>C (p.Glu261Gln)	dbSNP
17	g.72123638G=	CA2273926373	SOX9	c.781G= (p.Glu261=)
17	g.72123638G>T	CA400867029	SOX9	c.781G>T (p.Glu261Ter)	ClinVar dbSNP
17	g.72123639A=	CA2273926374	SOX9	c.782A= (p.Glu261=)
17	g.72123639A>C	CA400867032	SOX9	c.782A>C (p.Glu261Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123639A>G	CA400867033	SOX9	c.782A>G (p.Glu261Gly)
17	g.72123639A>T	CA400867034	SOX9	c.782A>T (p.Glu261Val)
17	g.72123639_72123640delinsAG	CA2273926375	SOX9	c.782_783delinsAG (p.Glu261=)
17	g.72123640G>A	CA8739022	SOX9	c.783G>A (p.Glu261=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123640G>C	CA8739023	SOX9	c.783G>C (p.Glu261Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123640G=	CA2273926376	SOX9	c.783G= (p.Glu261=)
17	g.72123640G>T	CA293783338	SOX9	c.783G>T (p.Glu261Asp)	dbSNP
17	g.72123645dup	CA501352038	SOX9	c.788dup (p.Arg264GlnfsTer?)	ClinVar dbSNP COSMIC
17	g.72123645del	CA627589979	SOX9	c.788del (p.Gly263AlafsTer16)	ClinVar dbSNP gnomAD v2 COSMIC
17	g.72123641G>A	CA400867035	SOX9	c.784G>A (p.Gly262Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.72123641G>C	CA8739024	SOX9	c.784G>C (p.Gly262Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123641G=	CA2273926377	SOX9	c.784G= (p.Gly262=)
17	g.72123641G>T	CA400867036	SOX9	c.784G>T (p.Gly262Trp)	dbSNP
17	g.72123642G>A	CA400867037	SOX9	c.785G>A (p.Gly262Glu)	dbSNP
17	g.72123642G>C	CA400867038	SOX9	c.785G>C (p.Gly262Ala)
17	g.72123642G=	CA2273926378	SOX9	c.785G= (p.Gly262=)
17	g.72123642G>T	CA400867039	SOX9	c.785G>T (p.Gly262Val)	ClinVar dbSNP gnomAD v4
17	g.72123643G>A	CA501352039	SOX9	c.786G>A (p.Gly262=)	dbSNP
17	g.72123643G>C	CA501352040	SOX9	c.786G>C (p.Gly262=)
17	g.72123643G=	CA2273926379	SOX9	c.786G= (p.Gly262=)
17	g.72123643G>T	CA501352041	SOX9	c.786G>T (p.Gly262=)	dbSNP
17	g.72123644G>A	CA8739025	SOX9	c.787G>A (p.Gly263Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123644G>C	CA400867040	SOX9	c.787G>C (p.Gly263Arg)
17	g.72123644G=	CA2273926380	SOX9	c.787G= (p.Gly263=)
17	g.72123644G>T	CA400867041	SOX9	c.787G>T (p.Gly263Cys)	dbSNP gnomAD v4
17	g.72123644_72123664del	CA2695226897	SOX9	c.787_807del (p.Gly263_Asp269del)
17	g.72123645G>A	CA400867042	SOX9	c.788G>A (p.Gly263Asp)	dbSNP gnomAD v4
17	g.72123645G>C	CA400867043	SOX9	c.788G>C (p.Gly263Ala)	dbSNP
17	g.72123645G=	CA2273926381	SOX9	c.788G= (p.Gly263=)
17	g.72123645G>T	CA8739026	SOX9	c.788G>T (p.Gly263Val)	ClinVar dbSNP ExAC gnomAD v4
17	g.72123646del	CA2695226898	SOX9	c.789del (p.Arg264AspfsTer15)
17	g.72123646C>A	CA501352044	SOX9	c.789C>A (p.Gly263=)	ClinVar
17	g.72123646C>G	CA501352042	SOX9	c.789C>G (p.Gly263=)	dbSNP
17	g.72123646C>T	CA501352043	SOX9	c.789C>T (p.Gly263=)	dbSNP
17	g.72123647A>C	CA501352046	SOX9	c.790A>C (p.Arg264=)	dbSNP
17	g.72123647A>G	CA400867044	SOX9	c.790A>G (p.Arg264Gly)	dbSNP gnomAD v4
17	g.72123647A>T	CA400867045	SOX9	c.790A>T (p.Arg264Ter)	ClinVar
17	g.72123648G>A	CA8739027	SOX9	c.791G>A (p.Arg264Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123648G>C	CA400867047	SOX9	c.791G>C (p.Arg264Thr)	dbSNP COSMIC
17	g.72123648G=	CA2273926382	SOX9	c.791G= (p.Arg264=)
17	g.72123648G>T	CA400867046	SOX9	c.791G>T (p.Arg264Ile)
17	g.72123649A>C	CA400867048	SOX9	c.792A>C (p.Arg264Ser)	dbSNP
17	g.72123649A>G	CA501352047	SOX9	c.792A>G (p.Arg264=)	dbSNP
17	g.72123649A>T	CA400867049	SOX9	c.792A>T (p.Arg264Ser)	dbSNP
17	g.72123650C>A	CA400867050	SOX9	c.793C>A (p.Gln265Lys)	dbSNP
17	g.72123650C=	CA2273926383	SOX9	c.793C= (p.Gln265=)
17	g.72123650C>G	CA293783351	SOX9	c.793C>G (p.Gln265Glu)	dbSNP
17	g.72123650C>T	CA400867051	SOX9	c.793C>T (p.Gln265Ter)	dbSNP COSMIC
17	g.72123651A>C	CA400867052	SOX9	c.794A>C (p.Gln265Pro)
17	g.72123651A>G	CA400867054	SOX9	c.794A>G (p.Gln265Arg)	dbSNP
17	g.72123651A>T	CA400867053	SOX9	c.794A>T (p.Gln265Leu)	dbSNP
17	g.72123652G>A	CA501352048	SOX9	c.795G>A (p.Gln265=)	dbSNP
17	g.72123652G>C	CA400867055	SOX9	c.795G>C (p.Gln265His)
17	g.72123652G=	CA2273926384	SOX9	c.795G= (p.Gln265=)
17	g.72123652G>T	CA400867056	SOX9	c.795G>T (p.Gln265His)
17	g.72123653C>A	CA400867057	SOX9	c.796C>A (p.Pro266Thr)	dbSNP
17	g.72123653C>G	CA400867058	SOX9	c.796C>G (p.Pro266Ala)	dbSNP
17	g.72123653C>T	CA400867059	SOX9	c.796C>T (p.Pro266Ser)	dbSNP
17	g.72123657dup	CA1139665863	SOX9	c.800dup (p.Ile268TyrfsTer28)
17	g.72123657del	CA645598922	SOX9	c.800del (p.Pro267LeufsTer12)	COSMIC
17	g.72123654C>A	CA400867060	SOX9	c.797C>A (p.Pro266His)	dbSNP
17	g.72123654C=	CA2273926385	SOX9	c.797C= (p.Pro266=)
17	g.72123654C>G	CA400867061	SOX9	c.797C>G (p.Pro266Arg)
17	g.72123654C>T	CA400867062	SOX9	c.797C>T (p.Pro266Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123655C>A	CA501352049	SOX9	c.798C>A (p.Pro266=)	dbSNP
17	g.72123655C=	CA2273926386	SOX9	c.798C= (p.Pro266=)
17	g.72123655C>G	CA501352050	SOX9	c.798C>G (p.Pro266=)	dbSNP gnomAD v4
17	g.72123655C>T	CA8739028	SOX9	c.798C>T (p.Pro266=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123656C>A	CA400867063	SOX9	c.799C>A (p.Pro267Thr)
17	g.72123656C>G	CA400867064	SOX9	c.799C>G (p.Pro267Ala)
17	g.72123656C>T	CA400867065	SOX9	c.799C>T (p.Pro267Ser)	dbSNP
17	g.72123657C>A	CA400867066	SOX9	c.800C>A (p.Pro267His)	dbSNP
17	g.72123657C>G	CA400867068	SOX9	c.800C>G (p.Pro267Arg)
17	g.72123657C>T	CA400867067	SOX9	c.800C>T (p.Pro267Leu)	dbSNP
17	g.72123658del	CA2597776583	SOX9	c.801del (p.Ile268SerfsTer11)	gnomAD v3 gnomAD v4
17	g.72123658T>A	CA501352051	SOX9	c.801T>A (p.Pro267=)
17	g.72123658T>C	CA501352052	SOX9	c.801T>C (p.Pro267=)	dbSNP
17	g.72123658T>G	CA501352053	SOX9	c.801T>G (p.Pro267=)
17	g.72123659A=	CA2273926387	SOX9	c.802A= (p.Ile268=)
17	g.72123659A>C	CA400867069	SOX9	c.802A>C (p.Ile268Leu)	dbSNP
17	g.72123659A>G	CA8739029	SOX9	c.802A>G (p.Ile268Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123659A>T	CA400867070	SOX9	c.802A>T (p.Ile268Phe)	dbSNP
17	g.72123660T>A	CA400867071	SOX9	c.803T>A (p.Ile268Asn)	dbSNP
17	g.72123660T>C	CA400867072	SOX9	c.803T>C (p.Ile268Thr)	dbSNP
17	g.72123660T>G	CA400867073	SOX9	c.803T>G (p.Ile268Ser)	dbSNP
17	g.72123661C>A	CA501352054	SOX9	c.804C>A (p.Ile268=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.72123661C=	CA2273926388	SOX9	c.804C= (p.Ile268=)
17	g.72123661C>G	CA400867074	SOX9	c.804C>G (p.Ile268Met)	dbSNP
17	g.72123661C>T	CA501352055	SOX9	c.804C>T (p.Ile268=)	dbSNP gnomAD v4
17	g.72123662G>A	CA400867075	SOX9	c.805G>A (p.Asp269Asn)	dbSNP
17	g.72123662G>C	CA400867076	SOX9	c.805G>C (p.Asp269His)	dbSNP
17	g.72123662G>T	CA400867077	SOX9	c.805G>T (p.Asp269Tyr)	dbSNP COSMIC
17	g.72123663A>C	CA400867080	SOX9	c.806A>C (p.Asp269Ala)	dbSNP
17	g.72123663A>G	CA400867079	SOX9	c.806A>G (p.Asp269Gly)	dbSNP
17	g.72123663A>T	CA400867078	SOX9	c.806A>T (p.Asp269Val)	dbSNP
17	g.72123664C>A	CA8739030	SOX9	c.807C>A (p.Asp269Glu)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.72123664C=	CA2273926389	SOX9	c.807C= (p.Asp269=)
17	g.72123664C>G	CA400867081	SOX9	c.807C>G (p.Asp269Glu)
17	g.72123664C>T	CA8739031	SOX9	c.807C>T (p.Asp269=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123665T>A	CA400867082	SOX9	c.808T>A (p.Phe270Ile)
17	g.72123665T>C	CA400867083	SOX9	c.808T>C (p.Phe270Leu)
17	g.72123665T>G	CA400867084	SOX9	c.808T>G (p.Phe270Val)
17	g.72123666T>A	CA400867085	SOX9	c.809T>A (p.Phe270Tyr)
17	g.72123666T>C	CA400867086	SOX9	c.809T>C (p.Phe270Ser)
17	g.72123666T>G	CA400867087	SOX9	c.809T>G (p.Phe270Cys)
17	g.72123667C>A	CA400867088	SOX9	c.810C>A (p.Phe270Leu)	COSMIC
17	g.72123667C>G	CA400867089	SOX9	c.810C>G (p.Phe270Leu)
17	g.72123667C>T	CA501352057	SOX9	c.810C>T (p.Phe270=)	gnomAD v4
17	g.72123668dup	CA501352056	SOX9	c.811dup (p.Arg271ProfsTer25)	COSMIC
17	g.72123668C>A	CA400867090	SOX9	c.811C>A (p.Arg271Ser)
17	g.72123668C=	CA2273926390	SOX9	c.811C= (p.Arg271=)
17	g.72123668C>G	CA400867091	SOX9	c.811C>G (p.Arg271Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123668C>T	CA8739032	SOX9	c.811C>T (p.Arg271Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123669G>A	CA400867094	SOX9	c.812G>A (p.Arg271His)	dbSNP gnomAD v4
17	g.72123669G>C	CA400867092	SOX9	c.812G>C (p.Arg271Pro)	dbSNP
17	g.72123669G=	CA2273926391	SOX9	c.812G= (p.Arg271=)
17	g.72123669G>T	CA400867093	SOX9	c.812G>T (p.Arg271Leu)
17	g.72123670C>A	CA501352058	SOX9	c.813C>A (p.Arg271=)	ClinVar dbSNP gnomAD v4
17	g.72123670C=	CA2273926392	SOX9	c.813C= (p.Arg271=)
17	g.72123670C>G	CA501352059	SOX9	c.813C>G (p.Arg271=)	dbSNP
17	g.72123670C>T	CA501352060	SOX9	c.813C>T (p.Arg271=)	dbSNP gnomAD v4
17	g.72123671G>A	CA400867095	SOX9	c.814G>A (p.Asp272Asn)	dbSNP gnomAD v4
17	g.72123671G>C	CA400867096	SOX9	c.814G>C (p.Asp272His)	dbSNP
17	g.72123671G>T	CA400867097	SOX9	c.814G>T (p.Asp272Tyr)	COSMIC
17	g.72123673_72123674insTCCGTGAC	CA2580095140	SOX9	c.816_817insTCCGTGAC (p.Val273SerfsTer9)	ClinVar
17	g.72123672A>C	CA400867098	SOX9	c.815A>C (p.Asp272Ala)	dbSNP
17	g.72123672A>G	CA400867099	SOX9	c.815A>G (p.Asp272Gly)	dbSNP
17	g.72123672A>T	CA400867100	SOX9	c.815A>T (p.Asp272Val)	dbSNP
17	g.72123673C>A	CA400867101	SOX9	c.816C>A (p.Asp272Glu)	dbSNP
17	g.72123673C=	CA2273926393	SOX9	c.816C= (p.Asp272=)
17	g.72123673C>G	CA400867102	SOX9	c.816C>G (p.Asp272Glu)	dbSNP
17	g.72123673C>T	CA8739033	SOX9	c.816C>T (p.Asp272=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123674G>A	CA400867103	SOX9	c.817G>A (p.Val273Met)	dbSNP gnomAD v4
17	g.72123674G>C	CA293783383	SOX9	c.817G>C (p.Val273Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123674G=	CA2273926394	SOX9	c.817G= (p.Val273=)
17	g.72123674G>T	CA400867104	SOX9	c.817G>T (p.Val273Leu)
17	g.72123675_72123676dup	CA645598923	SOX9	c.818_819dup (p.Asp274TrpfsTer6)	COSMIC
17	g.72123675T>A	CA400867106	SOX9	c.818T>A (p.Val273Glu)
17	g.72123675T>C	CA400867107	SOX9	c.818T>C (p.Val273Ala)	dbSNP
17	g.72123675T>G	CA400867105	SOX9	c.818T>G (p.Val273Gly)	dbSNP
17	g.72123675T=	CA2273926395	SOX9	c.818T= (p.Val273=)
17	g.72123676G>A	CA501352061	SOX9	c.819G>A (p.Val273=)	dbSNP gnomAD v4
17	g.72123676G>C	CA501352062	SOX9	c.819G>C (p.Val273=)	dbSNP
17	g.72123676G=	CA2273926396	SOX9	c.819G= (p.Val273=)
17	g.72123676G>T	CA501352063	SOX9	c.819G>T (p.Val273=)
17	g.72123677_72123686del	CA2695226899	SOX9	c.820_829del (p.Asp274SerfsTer2)
17	g.72123677G>A	CA400867108	SOX9	c.820G>A (p.Asp274Asn)	dbSNP gnomAD v4
17	g.72123677G>C	CA400867110	SOX9	c.820G>C (p.Asp274His)	dbSNP
17	g.72123677G>T	CA400867109	SOX9	c.820G>T (p.Asp274Tyr)
17	g.72123678A>C	CA400867111	SOX9	c.821A>C (p.Asp274Ala)	dbSNP
17	g.72123678A>G	CA400867112	SOX9	c.821A>G (p.Asp274Gly)	dbSNP
17	g.72123678A>T	CA400867113	SOX9	c.821A>T (p.Asp274Val)	dbSNP
17	g.72123679C>A	CA400867114	SOX9	c.822C>A (p.Asp274Glu)	dbSNP
17	g.72123679C=	CA2273926397	SOX9	c.822C= (p.Asp274=)
17	g.72123679C>G	CA400867115	SOX9	c.822C>G (p.Asp274Glu)	dbSNP
17	g.72123679C>T	CA501352064	SOX9	c.822C>T (p.Asp274=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123680A>C	CA400867116	SOX9	c.823A>C (p.Ile275Leu)	dbSNP
17	g.72123680A>G	CA400867117	SOX9	c.823A>G (p.Ile275Val)
17	g.72123680A>T	CA400867118	SOX9	c.823A>T (p.Ile275Phe)	dbSNP gnomAD v4
17	g.72123681T>A	CA400867119	SOX9	c.824T>A (p.Ile275Asn)	dbSNP
17	g.72123681T>C	CA400867120	SOX9	c.824T>C (p.Ile275Thr)
17	g.72123681T>G	CA400867121	SOX9	c.824T>G (p.Ile275Ser)	dbSNP
17	g.72123681T=	CA2273926398	SOX9	c.824T= (p.Ile275=)
17	g.72123682C>A	CA293783393	SOX9	c.825C>A (p.Ile275=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123682C=	CA2273926399	SOX9	c.825C= (p.Ile275=)
17	g.72123682C>G	CA400867122	SOX9	c.825C>G (p.Ile275Met)	dbSNP gnomAD v4
17	g.72123682C>T	CA8739034	SOX9	c.825C>T (p.Ile275=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123682dup	CA915952174	SOX9	c.825dup (p.Gly276ArgfsTer20)	ClinVar dbSNP
17	g.72123683G>A	CA400867123	SOX9	c.826G>A (p.Gly276Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123683G>C	CA8739035	SOX9	c.826G>C (p.Gly276Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123683G=	CA2273926400	SOX9	c.826G= (p.Gly276=)
17	g.72123683G>T	CA400867124	SOX9	c.826G>T (p.Gly276Cys)	dbSNP
17	g.72123684G>A	CA400867125	SOX9	c.827G>A (p.Gly276Asp)	dbSNP
17	g.72123684G>C	CA400867126	SOX9	c.827G>C (p.Gly276Ala)	dbSNP
17	g.72123684G>T	CA400867127	SOX9	c.827G>T (p.Gly276Val)	dbSNP
17	g.72123685C>A	CA501352065	SOX9	c.828C>A (p.Gly276=)	dbSNP
17	g.72123685C=	CA2273926401	SOX9	c.828C= (p.Gly276=)
17	g.72123685C>G	CA501352066	SOX9	c.828C>G (p.Gly276=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123685C>T	CA501352067	SOX9	c.828C>T (p.Gly276=)	dbSNP gnomAD v4
17	g.72123686G>A	CA400867128	SOX9	c.829G>A (p.Glu277Lys)	dbSNP gnomAD v4
17	g.72123686G>C	CA400867129	SOX9	c.829G>C (p.Glu277Gln)	dbSNP
17	g.72123686G>T	CA400867130	SOX9	c.829G>T (p.Glu277Ter)	ClinVar dbSNP COSMIC
17	g.72123687A>C	CA400867131	SOX9	c.830A>C (p.Glu277Ala)	dbSNP
17	g.72123687A>G	CA400867132	SOX9	c.830A>G (p.Glu277Gly)	dbSNP
17	g.72123687A>T	CA400867133	SOX9	c.830A>T (p.Glu277Val)	dbSNP
17	g.72123688G>A	CA293783406	SOX9	c.831G>A (p.Glu277=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123688G>C	CA8739036	SOX9	c.831G>C (p.Glu277Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123688G=	CA2273926402	SOX9	c.831G= (p.Glu277=)
17	g.72123688G>T	CA400867134	SOX9	c.831G>T (p.Glu277Asp)	dbSNP
17	g.72123689C>A	CA400867135	SOX9	c.832C>A (p.Leu278Met)	dbSNP
17	g.72123689C>G	CA400867136	SOX9	c.832C>G (p.Leu278Val)	dbSNP
17	g.72123689C>T	CA501352068	SOX9	c.832C>T (p.Leu278=)	dbSNP
17	g.72123690T>A	CA400867137	SOX9	c.833T>A (p.Leu278Gln)	dbSNP
17	g.72123690T>C	CA400867138	SOX9	c.833T>C (p.Leu278Pro)	dbSNP
17	g.72123690T>G	CA400867139	SOX9	c.833T>G (p.Leu278Arg)
17	g.72123691G>A	CA501352069	SOX9	c.834G>A (p.Leu278=)	dbSNP
17	g.72123691G>C	CA501352070	SOX9	c.834G>C (p.Leu278=)	dbSNP COSMIC
17	g.72123691G>T	CA501352071	SOX9	c.834G>T (p.Leu278=)	COSMIC
17	g.72123692A>C	CA400867140	SOX9	c.835A>C (p.Ser279Arg)
17	g.72123692A>G	CA400867141	SOX9	c.835A>G (p.Ser279Gly)	dbSNP
17	g.72123692A>T	CA400867142	SOX9	c.835A>T (p.Ser279Cys)	dbSNP gnomAD v4
17	g.72123693G>A	CA400867143	SOX9	c.836G>A (p.Ser279Asn)	dbSNP
17	g.72123693G>C	CA400867144	SOX9	c.836G>C (p.Ser279Thr)	dbSNP
17	g.72123693G>T	CA400867145	SOX9	c.836G>T (p.Ser279Ile)
17	g.72123694C>A	CA400867146	SOX9	c.837C>A (p.Ser279Arg)	dbSNP gnomAD v4
17	g.72123694C>G	CA400867147	SOX9	c.837C>G (p.Ser279Arg)	dbSNP
17	g.72123694C>T	CA501352072	SOX9	c.837C>T (p.Ser279=)	dbSNP gnomAD v4
17	g.72123695A=	CA2273926403	SOX9	c.838A= (p.Ser280=)
17	g.72123695A>C	CA400867148	SOX9	c.838A>C (p.Ser280Arg)
17	g.72123695A>G	CA8739037	SOX9	c.838A>G (p.Ser280Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123695A>T	CA400867149	SOX9	c.838A>T (p.Ser280Cys)	dbSNP gnomAD v4
17	g.72123696G>A	CA400867150	SOX9	c.839G>A (p.Ser280Asn)	dbSNP
17	g.72123696G>C	CA400867151	SOX9	c.839G>C (p.Ser280Thr)	dbSNP COSMIC
17	g.72123696G>T	CA400867152	SOX9	c.839G>T (p.Ser280Ile)
17	g.72123697C>A	CA400867153	SOX9	c.840C>A (p.Ser280Arg)	dbSNP
17	g.72123697C=	CA2273926404	SOX9	c.840C= (p.Ser280=)
17	g.72123697C>G	CA400867154	SOX9	c.840C>G (p.Ser280Arg)	dbSNP
17	g.72123697C>T	CA501352073	SOX9	c.840C>T (p.Ser280=)	dbSNP gnomAD v4 COSMIC
17	g.72123698G>A	CA400867155	SOX9	c.841G>A (p.Asp281Asn)	dbSNP
17	g.72123698G>C	CA400867156	SOX9	c.841G>C (p.Asp281His)	dbSNP
17	g.72123698G>T	CA400867157	SOX9	c.841G>T (p.Asp281Tyr)	COSMIC
17	g.72123698_72123699insCAA	CA2552488489	SOX9	c.841_842insCAA (p.Asp281delinsAlaAsn)
17	g.72123699A>C	CA400867158	SOX9	c.842A>C (p.Asp281Ala)	dbSNP
17	g.72123699A>G	CA400867159	SOX9	c.842A>G (p.Asp281Gly)	dbSNP
17	g.72123699A>T	CA400867160	SOX9	c.842A>T (p.Asp281Val)	dbSNP
17	g.72123700C>A	CA400867161	SOX9	c.843C>A (p.Asp281Glu)	dbSNP
17	g.72123700C=	CA2273926405	SOX9	c.843C= (p.Asp281=)
17	g.72123700C>G	CA400867162	SOX9	c.843C>G (p.Asp281Glu)	dbSNP gnomAD v4
17	g.72123700C>T	CA8739038	SOX9	c.843C>T (p.Asp281=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched