Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.5693217A>C	CA345866833	SOX11	c.496A>C (p.Lys166Gln)
2	g.5693217A>G	CA345866834	SOX11	c.496A>G (p.Lys166Glu)
2	g.5693217A>T	CA345866832	SOX11	c.496A>T (p.Lys166Ter)
2	g.5693218A=	CA1235671916	SOX11	c.497A= (p.Lys166=)
2	g.5693218A>C	CA345866835	SOX11	c.497A>C (p.Lys166Thr)
2	g.5693218A>G	CA1517850	SOX11	c.497A>G (p.Lys166Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693218A>T	CA345866836	SOX11	c.497A>T (p.Lys166Ile)
2	g.5693219A>C	CA345866837	SOX11	c.498A>C (p.Lys166Asn)	gnomAD v3 gnomAD v4
2	g.5693219A>G	CA424763209	SOX11	c.498A>G (p.Lys166=)
2	g.5693219A>T	CA345866838	SOX11	c.498A>T (p.Lys166Asn)
2	g.5693220T>A	CA345866839	SOX11	c.499T>A (p.Cys167Ser)	gnomAD v4
2	g.5693220T>C	CA345866840	SOX11	c.499T>C (p.Cys167Arg)	dbSNP gnomAD v4
2	g.5693220T>G	CA345866841	SOX11	c.499T>G (p.Cys167Gly)
2	g.5693220T=	CA1235671920	SOX11	c.499T= (p.Cys167=)
2	g.5693221G>A	CA345866842	SOX11	c.500G>A (p.Cys167Tyr)	gnomAD v4
2	g.5693221G>C	CA42006682	SOX11	c.500G>C (p.Cys167Ser)	dbSNP gnomAD v4
2	g.5693221G=	CA1235671926	SOX11	c.500G= (p.Cys167=)
2	g.5693221G>T	CA345866843	SOX11	c.500G>T (p.Cys167Phe)	gnomAD v4
2	g.5693224_5693253dup	CA1235671925	SOX11	c.503_532dup (p.Gly177_Ala178insGlyLysLeuLysAlaProAlaAlaAlaGly)	dbSNP
2	g.5693222C>A	CA345866844	SOX11	c.501C>A (p.Cys167Ter)	gnomAD v4
2	g.5693222C=	CA1235671927	SOX11	c.501C= (p.Cys167=)
2	g.5693222C>G	CA345866845	SOX11	c.501C>G (p.Cys167Trp)
2	g.5693222C>T	CA424763215	SOX11	c.501C>T (p.Cys167=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693223G>A	CA345866848	SOX11	c.502G>A (p.Gly168Ser)	gnomAD v4
2	g.5693223G>C	CA345866847	SOX11	c.502G>C (p.Gly168Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.5693223G=	CA1235671928	SOX11	c.502G= (p.Gly168=)
2	g.5693223G>T	CA345866846	SOX11	c.502G>T (p.Gly168Cys)	gnomAD v4
2	g.5693224G>A	CA345866849	SOX11	c.503G>A (p.Gly168Asp)	gnomAD v4
2	g.5693224G>C	CA345866850	SOX11	c.503G>C (p.Gly168Ala)
2	g.5693224G=	CA1235671929	SOX11	c.503G= (p.Gly168=)
2	g.5693224G>T	CA345866851	SOX11	c.503G>T (p.Gly168Val)	dbSNP gnomAD v4
2	g.5693225C>A	CA424763223	SOX11	c.504C>A (p.Gly168=)	gnomAD v4
2	g.5693225C=	CA1235671930	SOX11	c.504C= (p.Gly168=)
2	g.5693225C>G	CA424763227	SOX11	c.504C>G (p.Gly168=)	dbSNP gnomAD v4
2	g.5693225C>T	CA424763229	SOX11	c.504C>T (p.Gly168=)
2	g.5693226A>C	CA345866852	SOX11	c.505A>C (p.Lys169Gln)
2	g.5693226A>G	CA345866853	SOX11	c.505A>G (p.Lys169Glu)
2	g.5693226A>T	CA345866854	SOX11	c.505A>T (p.Lys169Ter)
2	g.5693227A>C	CA345866855	SOX11	c.506A>C (p.Lys169Thr)
2	g.5693227A>G	CA345866856	SOX11	c.506A>G (p.Lys169Arg)	gnomAD v4
2	g.5693227A>T	CA345866857	SOX11	c.506A>T (p.Lys169Met)
2	g.5693228G>A	CA424763234	SOX11	c.507G>A (p.Lys169=)	gnomAD v4
2	g.5693228G>C	CA345866858	SOX11	c.507G>C (p.Lys169Asn)
2	g.5693228G>T	CA345866859	SOX11	c.507G>T (p.Lys169Asn)	gnomAD v4
2	g.5693229C>A	CA345866861	SOX11	c.508C>A (p.Leu170Ile)	dbSNP gnomAD v2 gnomAD v4
2	g.5693229C=	CA1235671931	SOX11	c.508C= (p.Leu170=)
2	g.5693229C>G	CA345866862	SOX11	c.508C>G (p.Leu170Val)
2	g.5693229C>T	CA345866860	SOX11	c.508C>T (p.Leu170Phe)
2	g.5693230T>A	CA345866863	SOX11	c.509T>A (p.Leu170His)
2	g.5693230T>C	CA345866864	SOX11	c.509T>C (p.Leu170Pro)	dbSNP
2	g.5693230T>G	CA345866865	SOX11	c.509T>G (p.Leu170Arg)
2	g.5693230_5693254delinsTCAAGGCCCCCGCGGCCGCGGGCGC	CA1235671932	SOX11	c.509_533delinsTCAAGGCCCCCGCGGCCGCGGGCGC (p.Leu170=)
2	g.5693231C>A	CA42006683	SOX11	c.510C>A (p.Leu170=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.5693231C=	CA1235671934	SOX11	c.510C= (p.Leu170=)
2	g.5693231C>G	CA424763240	SOX11	c.510C>G (p.Leu170=)	gnomAD v4
2	g.5693231C>T	CA424763241	SOX11	c.510C>T (p.Leu170=)
2	g.5693237_5693260dup	CA1027167757	SOX11	c.516_539dup (p.Ala180_Gly181insProAlaAlaAlaGlyAlaLysAla)	dbSNP gnomAD v3 gnomAD v4
2	g.5693237_5693260del	CA1235671933	SOX11	c.516_539del (p.Pro173_Ala180del)	dbSNP gnomAD v4
2	g.5693232A=	CA1235671935	SOX11	c.511A= (p.Lys171=)
2	g.5693232A>C	CA345866866	SOX11	c.511A>C (p.Lys171Gln)	gnomAD v4
2	g.5693232A>G	CA345866867	SOX11	c.511A>G (p.Lys171Glu)
2	g.5693232A>T	CA345866868	SOX11	c.511A>T (p.Lys171Ter)	ClinVar dbSNP
2	g.5693233A>C	CA345866871	SOX11	c.512A>C (p.Lys171Thr)
2	g.5693233A>G	CA345866869	SOX11	c.512A>G (p.Lys171Arg)	gnomAD v4
2	g.5693233A>T	CA345866870	SOX11	c.512A>T (p.Lys171Met)
2	g.5693234G>A	CA424763247	SOX11	c.513G>A (p.Lys171=)	gnomAD v4
2	g.5693234G>C	CA345866872	SOX11	c.513G>C (p.Lys171Asn)
2	g.5693234G>T	CA345866873	SOX11	c.513G>T (p.Lys171Asn)
2	g.5693235G>A	CA345866874	SOX11	c.514G>A (p.Ala172Thr)	gnomAD v4
2	g.5693235G>C	CA345866875	SOX11	c.514G>C (p.Ala172Pro)
2	g.5693235G>T	CA345866876	SOX11	c.514G>T (p.Ala172Ser)	gnomAD v4
2	g.5693236C>A	CA345866877	SOX11	c.515C>A (p.Ala172Asp)	gnomAD v4
2	g.5693236C=	CA1235671936	SOX11	c.515C= (p.Ala172=)
2	g.5693236C>G	CA345866879	SOX11	c.515C>G (p.Ala172Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.5693236C>T	CA345866878	SOX11	c.515C>T (p.Ala172Val)	dbSNP gnomAD v4
2	g.5693240dup	CA2657723936	SOX11	c.519dup (p.Ala174ArgfsTer?)	gnomAD v4
2	g.5693240del	CA2586968697	SOX11	c.519del (p.Ala174ArgfsTer?)	gnomAD v4
2	g.5693237C>A	CA424763253	SOX11	c.516C>A (p.Ala172=)
2	g.5693237C>G	CA424763256	SOX11	c.516C>G (p.Ala172=)	gnomAD v4
2	g.5693237C>T	CA424763257	SOX11	c.516C>T (p.Ala172=)
2	g.5693238C>A	CA345866880	SOX11	c.517C>A (p.Pro173Thr)	gnomAD v4
2	g.5693238C=	CA1235671937	SOX11	c.517C= (p.Pro173=)
2	g.5693238C>G	CA345866881	SOX11	c.517C>G (p.Pro173Ala)
2	g.5693238C>T	CA345866882	SOX11	c.517C>T (p.Pro173Ser)
2	g.5693239C>A	CA345866883	SOX11	c.518C>A (p.Pro173His)	gnomAD v4
2	g.5693239C>G	CA345866884	SOX11	c.518C>G (p.Pro173Arg)
2	g.5693239C>T	CA345866885	SOX11	c.518C>T (p.Pro173Leu)
2	g.5693245_5693250dup	CA770423171	SOX11	c.524_529dup (p.Ala176_Gly177insAlaAla)	dbSNP
2	g.5693240C>A	CA424763263	SOX11	c.519C>A (p.Pro173=)	gnomAD v4
2	g.5693240C>G	CA424763267	SOX11	c.519C>G (p.Pro173=)
2	g.5693240C>T	CA424763268	SOX11	c.519C>T (p.Pro173=)	gnomAD v4
2	g.5693241G>A	CA345866886	SOX11	c.520G>A (p.Ala174Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.5693241G>C	CA345866887	SOX11	c.520G>C (p.Ala174Pro)
2	g.5693241G=	CA1235671938	SOX11	c.520G= (p.Ala174=)
2	g.5693241G>T	CA345866888	SOX11	c.520G>T (p.Ala174Ser)	gnomAD v4
2	g.5693242C>A	CA42006684	SOX11	c.521C>A (p.Ala174Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693242C=	CA1235671939	SOX11	c.521C= (p.Ala174=)
2	g.5693242C>G	CA345866889	SOX11	c.521C>G (p.Ala174Gly)
2	g.5693242C>T	CA345866890	SOX11	c.521C>T (p.Ala174Val)	dbSNP gnomAD v4
2	g.5693243G>A	CA424763273	SOX11	c.522G>A (p.Ala174=)	dbSNP gnomAD v4
2	g.5693243G>C	CA424763275	SOX11	c.522G>C (p.Ala174=)	dbSNP gnomAD v3 gnomAD v4
2	g.5693243G=	CA1235671940	SOX11	c.522G= (p.Ala174=)
2	g.5693243G>T	CA424763274	SOX11	c.522G>T (p.Ala174=)	gnomAD v4
2	g.5693244G>A	CA345866892	SOX11	c.523G>A (p.Ala175Thr)	gnomAD v4
2	g.5693244G>C	CA345866893	SOX11	c.523G>C (p.Ala175Pro)
2	g.5693244G>T	CA345866891	SOX11	c.523G>T (p.Ala175Ser)	gnomAD v4
2	g.5693245C>A	CA345866896	SOX11	c.524C>A (p.Ala175Asp)	gnomAD v4
2	g.5693245C>G	CA345866894	SOX11	c.524C>G (p.Ala175Gly)	gnomAD v4
2	g.5693245C>T	CA345866895	SOX11	c.524C>T (p.Ala175Val)	gnomAD v4
2	g.5693246_5693247insCCC	CA2576667536	SOX11	c.525_526insCCC (p.Ala175_Ala176insPro)
2	g.5693246C>A	CA424763282	SOX11	c.525C>A (p.Ala175=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693246C=	CA1235671941	SOX11	c.525C= (p.Ala175=)
2	g.5693246C>G	CA424763280	SOX11	c.525C>G (p.Ala175=)	ClinVar dbSNP gnomAD v4
2	g.5693246C>T	CA424763281	SOX11	c.525C>T (p.Ala175=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693246_5693258delinsCGCGGGCGCCAAG	CA1235671942	SOX11	c.525_537delinsCGCGGGCGCCAAG (p.Ala175=)
2	g.5693247G>A	CA345866897	SOX11	c.526G>A (p.Ala176Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693247G>C	CA345866898	SOX11	c.526G>C (p.Ala176Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.5693247G=	CA1235671943	SOX11	c.526G= (p.Ala176=)
2	g.5693247G>T	CA345866899	SOX11	c.526G>T (p.Ala176Ser)	gnomAD v4
2	g.5693255_5693266del	CA1027167758	SOX11	c.534_545del (p.Lys179_Ala182del)	dbSNP gnomAD v3 gnomAD v4
2	g.5693248C>A	CA345866900	SOX11	c.527C>A (p.Ala176Glu)	ClinVar gnomAD v4
2	g.5693248C=	CA1235671944	SOX11	c.527C= (p.Ala176=)
2	g.5693248C>G	CA345866901	SOX11	c.527C>G (p.Ala176Gly)	dbSNP
2	g.5693248C>T	CA345866902	SOX11	c.527C>T (p.Ala176Val)	gnomAD v4
2	g.5693249G>A	CA424763286	SOX11	c.528G>A (p.Ala176=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693249G>C	CA424763287	SOX11	c.528G>C (p.Ala176=)	dbSNP gnomAD v4
2	g.5693249G=	CA1235671945	SOX11	c.528G= (p.Ala176=)
2	g.5693249G>T	CA424763289	SOX11	c.528G>T (p.Ala176=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.5693250G>A	CA345866903	SOX11	c.529G>A (p.Gly177Ser)	gnomAD v4
2	g.5693250G>C	CA345866905	SOX11	c.529G>C (p.Gly177Arg)
2	g.5693250G>T	CA345866904	SOX11	c.529G>T (p.Gly177Cys)	gnomAD v4
2	g.5693250_5693251insCCGGCG	CA2576667537	SOX11	c.529_530insCCGGCG (p.Ala176_Gly177insAlaGly)
2	g.5693251G>A	CA345866906	SOX11	c.530G>A (p.Gly177Asp)
2	g.5693251G>C	CA345866907	SOX11	c.530G>C (p.Gly177Ala)
2	g.5693251G>T	CA345866908	SOX11	c.530G>T (p.Gly177Val)	dbSNP gnomAD v4
2	g.5693252C>A	CA424763292	SOX11	c.531C>A (p.Gly177=)	gnomAD v4
2	g.5693252C=	CA1235671946	SOX11	c.531C= (p.Gly177=)
2	g.5693252C>G	CA424763294	SOX11	c.531C>G (p.Gly177=)	gnomAD v4
2	g.5693252C>T	CA42006685	SOX11	c.531C>T (p.Gly177=)	dbSNP gnomAD v4
2	g.5693253G>A	CA345866911	SOX11	c.532G>A (p.Ala178Thr)	gnomAD v4
2	g.5693253G>C	CA345866909	SOX11	c.532G>C (p.Ala178Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.5693253G=	CA1235671947	SOX11	c.532G= (p.Ala178=)
2	g.5693253G>T	CA345866910	SOX11	c.532G>T (p.Ala178Ser)	dbSNP gnomAD v4
2	g.5693254C>A	CA345866912	SOX11	c.533C>A (p.Ala178Asp)
2	g.5693254C>G	CA345866913	SOX11	c.533C>G (p.Ala178Gly)
2	g.5693254C>T	CA345866914	SOX11	c.533C>T (p.Ala178Val)	gnomAD v4
2	g.5693254_5693255del	CA2531156757	SOX11	c.533_534del (p.Ala178GlufsTer?)
2	g.5693255C>A	CA424763299	SOX11	c.534C>A (p.Ala178=)	gnomAD v4
2	g.5693255C=	CA1235671948	SOX11	c.534C= (p.Ala178=)
2	g.5693255C>G	CA424763301	SOX11	c.534C>G (p.Ala178=)
2	g.5693255C>T	CA424763300	SOX11	c.534C>T (p.Ala178=)	dbSNP
2	g.5693256A>C	CA345866915	SOX11	c.535A>C (p.Lys179Gln)
2	g.5693256A>G	CA345866916	SOX11	c.535A>G (p.Lys179Glu)	gnomAD v4
2	g.5693256A>T	CA345866917	SOX11	c.535A>T (p.Lys179Ter)	gnomAD v4
2	g.5693257A>C	CA345866920	SOX11	c.536A>C (p.Lys179Thr)
2	g.5693257A>G	CA345866918	SOX11	c.536A>G (p.Lys179Arg)
2	g.5693257A>T	CA345866919	SOX11	c.536A>T (p.Lys179Met)	gnomAD v4
2	g.5693258G>A	CA42006686	SOX11	c.537G>A (p.Lys179=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693258G>C	CA345866921	SOX11	c.537G>C (p.Lys179Asn)
2	g.5693258G=	CA1235660067	SOX11	c.537G= (p.Lys179=)
2	g.5693258G>T	CA345866922	SOX11	c.537G>T (p.Lys179Asn)	gnomAD v4
2	g.5693259G>A	CA345866923	SOX11	c.538G>A (p.Ala180Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693259G>C	CA345866924	SOX11	c.538G>C (p.Ala180Pro)
2	g.5693259G=	CA1235660076	SOX11	c.538G= (p.Ala180=)
2	g.5693259G>T	CA345866925	SOX11	c.538G>T (p.Ala180Ser)
2	g.5693260C>A	CA42006687	SOX11	c.539C>A (p.Ala180Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693260C=	CA1235660080	SOX11	c.539C= (p.Ala180=)
2	g.5693260C>G	CA345866927	SOX11	c.539C>G (p.Ala180Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.5693260C>T	CA345866926	SOX11	c.539C>T (p.Ala180Val)	ClinVar dbSNP gnomAD v4
2	g.5693261G>A	CA424763312	SOX11	c.540G>A (p.Ala180=)	gnomAD v4
2	g.5693261G>C	CA424763313	SOX11	c.540G>C (p.Ala180=)
2	g.5693261G>T	CA424763315	SOX11	c.540G>T (p.Ala180=)	gnomAD v4
2	g.5693263del	CA2657723937	SOX11	c.542del (p.Gly181AlafsTer25)	gnomAD v4
2	g.5693262G>A	CA345866928	SOX11	c.541G>A (p.Gly181Ser)	dbSNP gnomAD v4
2	g.5693262G>C	CA345866929	SOX11	c.541G>C (p.Gly181Arg)
2	g.5693262G=	CA1235660082	SOX11	c.541G= (p.Gly181=)
2	g.5693262G>T	CA345866930	SOX11	c.541G>T (p.Gly181Cys)	dbSNP gnomAD v3 gnomAD v4
2	g.5693263G>A	CA345866931	SOX11	c.542G>A (p.Gly181Asp)	gnomAD v4
2	g.5693263G>C	CA345866932	SOX11	c.542G>C (p.Gly181Ala)
2	g.5693263G=	CA1235660085	SOX11	c.542G= (p.Gly181=)
2	g.5693263G>T	CA345866933	SOX11	c.542G>T (p.Gly181Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693264C>A	CA424763322	SOX11	c.543C>A (p.Gly181=)	gnomAD v4
2	g.5693264C=	CA1235660088	SOX11	c.543C= (p.Gly181=)
2	g.5693264C>G	CA1517851	SOX11	c.543C>G (p.Gly181=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693264C>T	CA424763324	SOX11	c.543C>T (p.Gly181=)	gnomAD v4
2	g.5693265G>A	CA345866934	SOX11	c.544G>A (p.Ala182Thr)	dbSNP gnomAD v4
2	g.5693265G>C	CA345866936	SOX11	c.544G>C (p.Ala182Pro)
2	g.5693265G=	CA1235660098	SOX11	c.544G= (p.Ala182=)
2	g.5693265G>T	CA345866935	SOX11	c.544G>T (p.Ala182Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.5693266C>A	CA345866937	SOX11	c.545C>A (p.Ala182Glu)	gnomAD v4
2	g.5693266C=	CA1235660103	SOX11	c.545C= (p.Ala182=)
2	g.5693266C>G	CA345866938	SOX11	c.545C>G (p.Ala182Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693266C>T	CA345866939	SOX11	c.545C>T (p.Ala182Val)	gnomAD v4
2	g.5693267G>A	CA424763327	SOX11	c.546G>A (p.Ala182=)	dbSNP gnomAD v4
2	g.5693267G>C	CA424763330	SOX11	c.546G>C (p.Ala182=)	ClinVar
2	g.5693267G=	CA1235660107	SOX11	c.546G= (p.Ala182=)
2	g.5693267G>T	CA1517852	SOX11	c.546G>T (p.Ala182=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693268G>A	CA42006688	SOX11	c.547G>A (p.Gly183Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693268G>C	CA345866941	SOX11	c.547G>C (p.Gly183Arg)	gnomAD v4
2	g.5693268G=	CA1235660111	SOX11	c.547G= (p.Gly183=)
2	g.5693268G>T	CA345866940	SOX11	c.547G>T (p.Gly183Cys)	dbSNP gnomAD v2 gnomAD v4
2	g.5693269G>A	CA345866942	SOX11	c.548G>A (p.Gly183Asp)	dbSNP gnomAD v3 gnomAD v4
2	g.5693269G>C	CA345866943	SOX11	c.548G>C (p.Gly183Ala)
2	g.5693269G=	CA1235660116	SOX11	c.548G= (p.Gly183=)
2	g.5693269G>T	CA345866944	SOX11	c.548G>T (p.Gly183Val)	gnomAD v4
2	g.5693270C>A	CA424763333	SOX11	c.549C>A (p.Gly183=)	gnomAD v4
2	g.5693270C>G	CA424763331	SOX11	c.549C>G (p.Gly183=)
2	g.5693270C>T	CA424763332	SOX11	c.549C>T (p.Gly183=)
2	g.5693271A>C	CA345866945	SOX11	c.550A>C (p.Lys184Gln)	gnomAD v4
2	g.5693271A>G	CA345866946	SOX11	c.550A>G (p.Lys184Glu)
2	g.5693271A>T	CA345866947	SOX11	c.550A>T (p.Lys184Ter)
2	g.5693272A=	CA1235660119	SOX11	c.551A= (p.Lys184=)
2	g.5693272A>C	CA345866948	SOX11	c.551A>C (p.Lys184Thr)
2	g.5693272A>G	CA345866949	SOX11	c.551A>G (p.Lys184Arg)	dbSNP
2	g.5693272A>T	CA345866950	SOX11	c.551A>T (p.Lys184Met)
2	g.5693273G>A	CA424763334	SOX11	c.552G>A (p.Lys184=)	gnomAD v4
2	g.5693273G>C	CA345866951	SOX11	c.552G>C (p.Lys184Asn)
2	g.5693273G>T	CA345866952	SOX11	c.552G>T (p.Lys184Asn)	gnomAD v4
2	g.5693274G>A	CA345866953	SOX11	c.553G>A (p.Ala185Thr)
2	g.5693274G>C	CA345866955	SOX11	c.553G>C (p.Ala185Pro)	gnomAD v4
2	g.5693274G>T	CA345866954	SOX11	c.553G>T (p.Ala185Ser)
2	g.5693275C>A	CA345866956	SOX11	c.554C>A (p.Ala185Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.5693275C=	CA1235660121	SOX11	c.554C= (p.Ala185=)
2	g.5693275C>G	CA345866958	SOX11	c.554C>G (p.Ala185Gly)
2	g.5693275C>T	CA345866957	SOX11	c.554C>T (p.Ala185Val)	dbSNP gnomAD v4
2	g.5693276G>A	CA424763338	SOX11	c.555G>A (p.Ala185=)	dbSNP gnomAD v4
2	g.5693276G>C	CA424763339	SOX11	c.555G>C (p.Ala185=)
2	g.5693276G=	CA1235660123	SOX11	c.555G= (p.Ala185=)
2	g.5693276G>T	CA424763340	SOX11	c.555G>T (p.Ala185=)	gnomAD v4
2	g.5693277G>A	CA345866959	SOX11	c.556G>A (p.Ala186Thr)	gnomAD v4
2	g.5693277G>C	CA345866960	SOX11	c.556G>C (p.Ala186Pro)
2	g.5693277G=	CA1235660125	SOX11	c.556G= (p.Ala186=)
2	g.5693277G>T	CA345866961	SOX11	c.556G>T (p.Ala186Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.5693278C>A	CA345866962	SOX11	c.557C>A (p.Ala186Asp)	gnomAD v4
2	g.5693278C=	CA1235660130	SOX11	c.557C= (p.Ala186=)
2	g.5693278C>G	CA345866963	SOX11	c.557C>G (p.Ala186Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.5693278C>T	CA345866964	SOX11	c.557C>T (p.Ala186Val)	gnomAD v4
2	g.5693279C>A	CA424763343	SOX11	c.558C>A (p.Ala186=)	gnomAD v4
2	g.5693279C=	CA1235660132	SOX11	c.558C= (p.Ala186=)
2	g.5693279C>G	CA424763345	SOX11	c.558C>G (p.Ala186=)
2	g.5693279C>T	CA424763346	SOX11	c.558C>T (p.Ala186=)	dbSNP gnomAD v2 gnomAD v4
2	g.5693280C>A	CA345866965	SOX11	c.559C>A (p.Gln187Lys)	gnomAD v4
2	g.5693280C>G	CA345866966	SOX11	c.559C>G (p.Gln187Glu)	dbSNP
2	g.5693280C>T	CA345866967	SOX11	c.559C>T (p.Gln187Ter)
2	g.5693281A>C	CA345866968	SOX11	c.560A>C (p.Gln187Pro)
2	g.5693281A>G	CA345866969	SOX11	c.560A>G (p.Gln187Arg)	gnomAD v4
2	g.5693281A>T	CA345866970	SOX11	c.560A>T (p.Gln187Leu)
2	g.5693282G>A	CA424763353	SOX11	c.561G>A (p.Gln187=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693282G>C	CA345866971	SOX11	c.561G>C (p.Gln187His)	dbSNP
2	g.5693282G=	CA1235660135	SOX11	c.561G= (p.Gln187=)
2	g.5693282G>T	CA345866972	SOX11	c.561G>T (p.Gln187His)	gnomAD v4
2	g.5693283T>A	CA345866973	SOX11	c.562T>A (p.Ser188Thr)
2	g.5693283T>C	CA345866974	SOX11	c.562T>C (p.Ser188Pro)	ClinVar
2	g.5693283T>G	CA345866975	SOX11	c.562T>G (p.Ser188Ala)
2	g.5693284C>A	CA345866976	SOX11	c.563C>A (p.Ser188Tyr)	gnomAD v4
2	g.5693284C>G	CA345866977	SOX11	c.563C>G (p.Ser188Cys)
2	g.5693284C>T	CA345866978	SOX11	c.563C>T (p.Ser188Phe)	gnomAD v4
2	g.5693285C>A	CA424763357	SOX11	c.564C>A (p.Ser188=)	gnomAD v4
2	g.5693285C=	CA1235660139	SOX11	c.564C= (p.Ser188=)
2	g.5693285C>G	CA1517853	SOX11	c.564C>G (p.Ser188=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693285C>T	CA424763358	SOX11	c.564C>T (p.Ser188=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693286G>A	CA345866979	SOX11	c.565G>A (p.Gly189Arg)	dbSNP gnomAD v4
2	g.5693286G>C	CA345866980	SOX11	c.565G>C (p.Gly189Arg)
2	g.5693286G=	CA1235660144	SOX11	c.565G= (p.Gly189=)
2	g.5693286G>T	CA345866981	SOX11	c.565G>T (p.Gly189Trp)	gnomAD v4
2	g.5693289del	CA2657723938	SOX11	c.568del (p.Asp190ThrfsTer16)	gnomAD v4
2	g.5693287G>A	CA345866982	SOX11	c.566G>A (p.Gly189Glu)	dbSNP
2	g.5693287G>C	CA345866983	SOX11	c.566G>C (p.Gly189Ala)	gnomAD v4
2	g.5693287G=	CA1235660147	SOX11	c.566G= (p.Gly189=)
2	g.5693287G>T	CA345866984	SOX11	c.566G>T (p.Gly189Val)	gnomAD v4
2	g.5693288G>A	CA424763361	SOX11	c.567G>A (p.Gly189=)	gnomAD v4
2	g.5693288G>C	CA424763363	SOX11	c.567G>C (p.Gly189=)
2	g.5693288G>T	CA424763364	SOX11	c.567G>T (p.Gly189=)	gnomAD v4
2	g.5693289G>A	CA345866985	SOX11	c.568G>A (p.Asp190Asn)
2	g.5693289G>C	CA345866986	SOX11	c.568G>C (p.Asp190His)
2	g.5693289G=	CA1235660150	SOX11	c.568G= (p.Asp190=)
2	g.5693289G>T	CA1517854	SOX11	c.568G>T (p.Asp190Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693290A>C	CA345866987	SOX11	c.569A>C (p.Asp190Ala)
2	g.5693290A>G	CA345866988	SOX11	c.569A>G (p.Asp190Gly)
2	g.5693290A>T	CA345866989	SOX11	c.569A>T (p.Asp190Val)
2	g.5693291C>A	CA345866990	SOX11	c.570C>A (p.Asp190Glu)	gnomAD v4
2	g.5693291C=	CA1235660152	SOX11	c.570C= (p.Asp190=)
2	g.5693291C>G	CA345866991	SOX11	c.570C>G (p.Asp190Glu)
2	g.5693291C>T	CA424763369	SOX11	c.570C>T (p.Asp190=)	dbSNP gnomAD v2 gnomAD v4
2	g.5693292T>A	CA345866992	SOX11	c.571T>A (p.Tyr191Asn)
2	g.5693292T>C	CA345866993	SOX11	c.571T>C (p.Tyr191His)
2	g.5693292T>G	CA345866994	SOX11	c.571T>G (p.Tyr191Asp)
2	g.5693293A>C	CA345866995	SOX11	c.572A>C (p.Tyr191Ser)
2	g.5693293A>G	CA345866996	SOX11	c.572A>G (p.Tyr191Cys)	gnomAD v4
2	g.5693293A>T	CA345866997	SOX11	c.572A>T (p.Tyr191Phe)	gnomAD v4
2	g.5693294C>A	CA345866998	SOX11	c.573C>A (p.Tyr191Ter)	gnomAD v4
2	g.5693294C>G	CA345866999	SOX11	c.573C>G (p.Tyr191Ter)
2	g.5693294C>T	CA424763375	SOX11	c.573C>T (p.Tyr191=)	gnomAD v4 COSMIC
2	g.5693295G>A	CA345867000	SOX11	c.574G>A (p.Gly192Arg)	gnomAD v4
2	g.5693295G>C	CA345867002	SOX11	c.574G>C (p.Gly192Arg)
2	g.5693295G>T	CA345867001	SOX11	c.574G>T (p.Gly192Trp)	gnomAD v4
2	g.5693299dup	CA2748721119	SOX11	c.578dup (p.Ala194ArgfsTer?)
2	g.5693299del	CA2657723939	SOX11	c.578del (p.Gly193AlafsTer13)	gnomAD v4
2	g.5693296G>A	CA345867003	SOX11	c.575G>A (p.Gly192Glu)
2	g.5693296G>C	CA345867004	SOX11	c.575G>C (p.Gly192Ala)
2	g.5693296G=	CA1235660154	SOX11	c.575G= (p.Gly192=)
2	g.5693296G>T	CA345867005	SOX11	c.575G>T (p.Gly192Val)	dbSNP gnomAD v2 gnomAD v4
2	g.5693297G>A	CA424763380	SOX11	c.576G>A (p.Gly192=)	ClinVar dbSNP gnomAD v4
2	g.5693297G>C	CA424763381	SOX11	c.576G>C (p.Gly192=)	dbSNP gnomAD v2
2	g.5693297G=	CA1235660157	SOX11	c.576G= (p.Gly192=)
2	g.5693297G>T	CA424763382	SOX11	c.576G>T (p.Gly192=)	gnomAD v4
2	g.5693298G>A	CA1517855	SOX11	c.577G>A (p.Gly193Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693298G>C	CA345867006	SOX11	c.577G>C (p.Gly193Arg)	dbSNP
2	g.5693298G=	CA1235660160	SOX11	c.577G= (p.Gly193=)
2	g.5693298G>T	CA345867007	SOX11	c.577G>T (p.Gly193Cys)
2	g.5693299G>A	CA1517856	SOX11	c.578G>A (p.Gly193Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693299G>C	CA345867008	SOX11	c.578G>C (p.Gly193Ala)
2	g.5693299G=	CA1235660162	SOX11	c.578G= (p.Gly193=)
2	g.5693299G>T	CA345867009	SOX11	c.578G>T (p.Gly193Val)	gnomAD v4
2	g.5693300C>A	CA42006689	SOX11	c.579C>A (p.Gly193=)	ClinVar dbSNP gnomAD v4
2	g.5693300C=	CA1235660164	SOX11	c.579C= (p.Gly193=)
2	g.5693300C>G	CA424763388	SOX11	c.579C>G (p.Gly193=)
2	g.5693300C>T	CA424763389	SOX11	c.579C>T (p.Gly193=)	gnomAD v4
2	g.5693301G>A	CA345867010	SOX11	c.580G>A (p.Ala194Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.5693301G>C	CA345867012	SOX11	c.580G>C (p.Ala194Pro)	gnomAD v4
2	g.5693301G=	CA1235660167	SOX11	c.580G= (p.Ala194=)
2	g.5693301G>T	CA345867011	SOX11	c.580G>T (p.Ala194Ser)	gnomAD v4
2	g.5693302C>A	CA345867013	SOX11	c.581C>A (p.Ala194Glu)	gnomAD v4
2	g.5693302C>G	CA345867015	SOX11	c.581C>G (p.Ala194Gly)
2	g.5693302C>T	CA345867014	SOX11	c.581C>T (p.Ala194Val)	gnomAD v4 COSMIC
2	g.5693303G>A	CA424763393	SOX11	c.582G>A (p.Ala194=)	dbSNP gnomAD v4
2	g.5693303G>C	CA424763395	SOX11	c.582G>C (p.Ala194=)	gnomAD v4
2	g.5693303G=	CA1235660170	SOX11	c.582G= (p.Ala194=)
2	g.5693303G>T	CA424763394	SOX11	c.582G>T (p.Ala194=)	gnomAD v4
2	g.5693304G>A	CA345867016	SOX11	c.583G>A (p.Gly195Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.5693304G>C	CA345867018	SOX11	c.583G>C (p.Gly195Arg)
2	g.5693304G=	CA1235660172	SOX11	c.583G= (p.Gly195=)
2	g.5693304G>T	CA345867017	SOX11	c.583G>T (p.Gly195Cys)	dbSNP
2	g.5693305G>A	CA345867019	SOX11	c.584G>A (p.Gly195Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693305G>C	CA345867020	SOX11	c.584G>C (p.Gly195Ala)
2	g.5693305G=	CA1235660176	SOX11	c.584G= (p.Gly195=)
2	g.5693305G>T	CA345867021	SOX11	c.584G>T (p.Gly195Val)	gnomAD v4
2	g.5693306C>A	CA1517857	SOX11	c.585C>A (p.Gly195=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693306C=	CA1235660180	SOX11	c.585C= (p.Gly195=)
2	g.5693306C>G	CA424763401	SOX11	c.585C>G (p.Gly195=)	gnomAD v4
2	g.5693306C>T	CA424763402	SOX11	c.585C>T (p.Gly195=)	gnomAD v4
2	g.5693307G>A	CA1517858	SOX11	c.586G>A (p.Asp196Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693307G>C	CA345867022	SOX11	c.586G>C (p.Asp196His)	gnomAD v4
2	g.5693307G=	CA1235660185	SOX11	c.586G= (p.Asp196=)
2	g.5693307G>T	CA345867023	SOX11	c.586G>T (p.Asp196Tyr)	dbSNP gnomAD v2 gnomAD v4
2	g.5693308A>C	CA345867024	SOX11	c.587A>C (p.Asp196Ala)
2	g.5693308A>G	CA345867025	SOX11	c.587A>G (p.Asp196Gly)
2	g.5693308A>T	CA345867026	SOX11	c.587A>T (p.Asp196Val)
2	g.5693309C>A	CA1517859	SOX11	c.588C>A (p.Asp196Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693309C=	CA1235660187	SOX11	c.588C= (p.Asp196=)
2	g.5693309C>G	CA1517860	SOX11	c.588C>G (p.Asp196Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693309C>T	CA424763404	SOX11	c.588C>T (p.Asp196=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693310G>A	CA1517862	SOX11	c.589G>A (p.Asp197Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.5693310G>C	CA1517861	SOX11	c.589G>C (p.Asp197His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693310G=	CA1235660190	SOX11	c.589G= (p.Asp197=)
2	g.5693310G>T	CA345867027	SOX11	c.589G>T (p.Asp197Tyr)	gnomAD v4
2	g.5693311A>C	CA345867028	SOX11	c.590A>C (p.Asp197Ala)
2	g.5693311A>G	CA345867029	SOX11	c.590A>G (p.Asp197Gly)	gnomAD v4
2	g.5693311A>T	CA345867030	SOX11	c.590A>T (p.Asp197Val)
2	g.5693312C>A	CA345867031	SOX11	c.591C>A (p.Asp197Glu)
2	g.5693312C>G	CA345867032	SOX11	c.591C>G (p.Asp197Glu)
2	g.5693312C>T	CA424763406	SOX11	c.591C>T (p.Asp197=)
2	g.5693313T>A	CA345867033	SOX11	c.592T>A (p.Tyr198Asn)
2	g.5693313T>C	CA345867034	SOX11	c.592T>C (p.Tyr198His)	gnomAD v4
2	g.5693313T>G	CA345867035	SOX11	c.592T>G (p.Tyr198Asp)
2	g.5693314A=	CA1235660197	SOX11	c.593A= (p.Tyr198=)
2	g.5693314A>C	CA345867036	SOX11	c.593A>C (p.Tyr198Ser)
2	g.5693314A>G	CA1517863	SOX11	c.593A>G (p.Tyr198Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693314A>T	CA345867037	SOX11	c.593A>T (p.Tyr198Phe)
2	g.5693315C>A	CA16042463	SOX11	c.594C>A (p.Tyr198Ter)	ClinVar dbSNP
2	g.5693315C=	CA1235660203	SOX11	c.594C= (p.Tyr198=)
2	g.5693315C>G	CA345867038	SOX11	c.594C>G (p.Tyr198Ter)
2	g.5693315C>T	CA424762816	SOX11	c.594C>T (p.Tyr198=)	gnomAD v4
2	g.5693316G>A	CA345867039	SOX11	c.595G>A (p.Val199Met)	gnomAD v4
2	g.5693316G>C	CA1517864	SOX11	c.595G>C (p.Val199Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693316G=	CA1235660206	SOX11	c.595G= (p.Val199=)
2	g.5693316G>T	CA345867040	SOX11	c.595G>T (p.Val199Leu)	gnomAD v4
2	g.5693317T>A	CA345867041	SOX11	c.596T>A (p.Val199Glu)
2	g.5693317T>C	CA345867042	SOX11	c.596T>C (p.Val199Ala)	gnomAD v4
2	g.5693317T>G	CA345867043	SOX11	c.596T>G (p.Val199Gly)

Number of alleles fetched