Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.5693321G>A	CA424762821	SOX11	c.600G>A (p.Leu200=)
2	g.5693321G>C	CA424762822	SOX11	c.600G>C (p.Leu200=)
2	g.5693321G=	CA1235660221	SOX11	c.600G= (p.Leu200=)
2	g.5693321G>T	CA424762823	SOX11	c.600G>T (p.Leu200=)	dbSNP
2	g.5693322G>A	CA345867048	SOX11	c.601G>A (p.Gly201Ser)
2	g.5693322G>C	CA345867050	SOX11	c.601G>C (p.Gly201Arg)
2	g.5693322G>T	CA345867049	SOX11	c.601G>T (p.Gly201Cys)	gnomAD v4
2	g.5693323G>A	CA345867051	SOX11	c.602G>A (p.Gly201Asp)	gnomAD v4 COSMIC
2	g.5693323G>C	CA345867052	SOX11	c.602G>C (p.Gly201Ala)	dbSNP
2	g.5693323G=	CA1235660223	SOX11	c.602G= (p.Gly201=)
2	g.5693323G>T	CA345867053	SOX11	c.602G>T (p.Gly201Val)	gnomAD v4
2	g.5693324C>A	CA424762825	SOX11	c.603C>A (p.Gly201=)	gnomAD v4
2	g.5693324C=	CA1235660228	SOX11	c.603C= (p.Gly201=)
2	g.5693324C>G	CA424762827	SOX11	c.603C>G (p.Gly201=)
2	g.5693324C>T	CA424762828	SOX11	c.603C>T (p.Gly201=)	dbSNP gnomAD v3 gnomAD v4
2	g.5693325A>C	CA345867054	SOX11	c.604A>C (p.Ser202Arg)
2	g.5693325A>G	CA345867055	SOX11	c.604A>G (p.Ser202Gly)
2	g.5693325A>T	CA345867056	SOX11	c.604A>T (p.Ser202Cys)
2	g.5693326G>A	CA345867057	SOX11	c.605G>A (p.Ser202Asn)	gnomAD v4
2	g.5693326G>C	CA345867058	SOX11	c.605G>C (p.Ser202Thr)
2	g.5693326G>T	CA345867059	SOX11	c.605G>T (p.Ser202Ile)
2	g.5693327C>A	CA345867060	SOX11	c.606C>A (p.Ser202Arg)
2	g.5693327C=	CA1235660232	SOX11	c.606C= (p.Ser202=)
2	g.5693327C>G	CA345867061	SOX11	c.606C>G (p.Ser202Arg)
2	g.5693327C>T	CA424762829	SOX11	c.606C>T (p.Ser202=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693328C>A	CA345867062	SOX11	c.607C>A (p.Leu203Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.5693328C=	CA1235660233	SOX11	c.607C= (p.Leu203=)
2	g.5693328C>G	CA1517867	SOX11	c.607C>G (p.Leu203Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693328C>T	CA424762831	SOX11	c.607C>T (p.Leu203=)	gnomAD v4
2	g.5693329T>A	CA345867063	SOX11	c.608T>A (p.Leu203Gln)
2	g.5693329T>C	CA345867065	SOX11	c.608T>C (p.Leu203Pro)
2	g.5693329T>G	CA345867064	SOX11	c.608T>G (p.Leu203Arg)
2	g.5693330G>A	CA424762835	SOX11	c.609G>A (p.Leu203=)
2	g.5693330G>C	CA424762833	SOX11	c.609G>C (p.Leu203=)
2	g.5693330G=	CA1235660236	SOX11	c.609G= (p.Leu203=)
2	g.5693330G>T	CA424762834	SOX11	c.609G>T (p.Leu203=)	dbSNP gnomAD v4
2	g.5693331C>A	CA345867066	SOX11	c.610C>A (p.Arg204Ser)	dbSNP gnomAD v4
2	g.5693331C=	CA1235660239	SOX11	c.610C= (p.Arg204=)
2	g.5693331C>G	CA345867067	SOX11	c.610C>G (p.Arg204Gly)	gnomAD v4
2	g.5693331C>T	CA1517868	SOX11	c.610C>T (p.Arg204Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693332G>A	CA345867068	SOX11	c.611G>A (p.Arg204His)	gnomAD v4 COSMIC
2	g.5693332G>C	CA345867069	SOX11	c.611G>C (p.Arg204Pro)	dbSNP gnomAD v2
2	g.5693332G=	CA1235660242	SOX11	c.611G= (p.Arg204=)
2	g.5693332G>T	CA1517869	SOX11	c.611G>T (p.Arg204Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693333C>A	CA1517871	SOX11	c.612C>A (p.Arg204=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693333C=	CA1235660248	SOX11	c.612C= (p.Arg204=)
2	g.5693333C>G	CA1517870	SOX11	c.612C>G (p.Arg204=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693333C>T	CA1517872	SOX11	c.612C>T (p.Arg204=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693334G>A	CA345867070	SOX11	c.613G>A (p.Val205Met)	dbSNP gnomAD v2
2	g.5693334G>C	CA345867071	SOX11	c.613G>C (p.Val205Leu)	gnomAD v4
2	g.5693334G=	CA1235660251	SOX11	c.613G= (p.Val205=)
2	g.5693334G>T	CA345867072	SOX11	c.613G>T (p.Val205Leu)	gnomAD v4
2	g.5693335T>A	CA345867075	SOX11	c.614T>A (p.Val205Glu)
2	g.5693335T>C	CA345867073	SOX11	c.614T>C (p.Val205Ala)
2	g.5693335T>G	CA345867074	SOX11	c.614T>G (p.Val205Gly)	dbSNP gnomAD v4
2	g.5693335T=	CA1235660255	SOX11	c.614T= (p.Val205=)
2	g.5693336G>A	CA424762842	SOX11	c.615G>A (p.Val205=)
2	g.5693336G>C	CA424762843	SOX11	c.615G>C (p.Val205=)
2	g.5693336G>T	CA424762844	SOX11	c.615G>T (p.Val205=)	gnomAD v4
2	g.5693337A>C	CA345867076	SOX11	c.616A>C (p.Ser206Arg)
2	g.5693337A>G	CA345867077	SOX11	c.616A>G (p.Ser206Gly)
2	g.5693337A>T	CA345867078	SOX11	c.616A>T (p.Ser206Cys)
2	g.5693338G>A	CA345867079	SOX11	c.617G>A (p.Ser206Asn)	gnomAD v4
2	g.5693338G>C	CA345867080	SOX11	c.617G>C (p.Ser206Thr)	dbSNP
2	g.5693338G=	CA1235660257	SOX11	c.617G= (p.Ser206=)
2	g.5693338G>T	CA345867081	SOX11	c.617G>T (p.Ser206Ile)
2	g.5693343_5693357del	CA2580612909	SOX11	c.622_636del (p.Ser208_Gly212del)	ClinVar
2	g.5693339C>A	CA345867082	SOX11	c.618C>A (p.Ser206Arg)	dbSNP gnomAD v4
2	g.5693339C=	CA1235660259	SOX11	c.618C= (p.Ser206=)
2	g.5693339C>G	CA345867083	SOX11	c.618C>G (p.Ser206Arg)	gnomAD v4
2	g.5693339C>T	CA424762845	SOX11	c.618C>T (p.Ser206=)	dbSNP gnomAD v3 gnomAD v4
2	g.5693340G>A	CA345867084	SOX11	c.619G>A (p.Gly207Ser)	gnomAD v4
2	g.5693340G>C	CA345867085	SOX11	c.619G>C (p.Gly207Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693340G=	CA1235660261	SOX11	c.619G= (p.Gly207=)
2	g.5693340G>T	CA345867086	SOX11	c.619G>T (p.Gly207Cys)	gnomAD v4
2	g.5693341G>A	CA345867089	SOX11	c.620G>A (p.Gly207Asp)	gnomAD v4
2	g.5693341G>C	CA345867088	SOX11	c.620G>C (p.Gly207Ala)
2	g.5693341G>T	CA345867087	SOX11	c.620G>T (p.Gly207Val)
2	g.5693342C>A	CA424762848	SOX11	c.621C>A (p.Gly207=)
2	g.5693342C=	CA1235660264	SOX11	c.621C= (p.Gly207=)
2	g.5693342C>G	CA424762846	SOX11	c.621C>G (p.Gly207=)
2	g.5693342C>T	CA1517873	SOX11	c.621C>T (p.Gly207=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693343T>A	CA345867090	SOX11	c.622T>A (p.Ser208Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.5693343T>C	CA345867091	SOX11	c.622T>C (p.Ser208Pro)
2	g.5693343T>G	CA345867092	SOX11	c.622T>G (p.Ser208Ala)	gnomAD v3 gnomAD v4
2	g.5693343T=	CA1235660268	SOX11	c.622T= (p.Ser208=)
2	g.5693344C>A	CA345867093	SOX11	c.623C>A (p.Ser208Ter)
2	g.5693344C=	CA1235660271	SOX11	c.623C= (p.Ser208=)
2	g.5693344C>G	CA345867094	SOX11	c.623C>G (p.Ser208Trp)	gnomAD v4
2	g.5693344C>T	CA345867095	SOX11	c.623C>T (p.Ser208Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.5693345G>A	CA424762849	SOX11	c.624G>A (p.Ser208=)	ClinVar dbSNP
2	g.5693345G>C	CA1517874	SOX11	c.624G>C (p.Ser208=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693345G=	CA1235660274	SOX11	c.624G= (p.Ser208=)
2	g.5693345G>T	CA424762852	SOX11	c.624G>T (p.Ser208=)	gnomAD v4
2	g.5693345_5693348delinsGGGC	CA1235660275	SOX11	c.624_627delinsGGGC (p.Ser208=)
2	g.5693345_5693346insTGC	CA2657723941	SOX11	c.624_625insTGC (p.Ser208_Gly209insCys)	gnomAD v4
2	g.5693346G>A	CA345867096	SOX11	c.625G>A (p.Gly209Ser)	gnomAD v4
2	g.5693346G>C	CA345867097	SOX11	c.625G>C (p.Gly209Arg)
2	g.5693346G>T	CA345867098	SOX11	c.625G>T (p.Gly209Cys)
2	g.5693356_5693358dup	CA2657723940	SOX11	c.635_637dup (p.Gly212_Ala213insGly)	gnomAD v4
2	g.5693356_5693358del	CA530849851	SOX11	c.635_637del (p.Gly212del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693347G>A	CA345867099	SOX11	c.626G>A (p.Gly209Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693347G>C	CA345867100	SOX11	c.626G>C (p.Gly209Ala)
2	g.5693347G=	CA1235660285	SOX11	c.626G= (p.Gly209=)
2	g.5693347G>T	CA345867101	SOX11	c.626G>T (p.Gly209Val)	gnomAD v4
2	g.5693348C>A	CA424762855	SOX11	c.627C>A (p.Gly209=)	dbSNP gnomAD v3 gnomAD v4
2	g.5693348C=	CA1235660287	SOX11	c.627C= (p.Gly209=)
2	g.5693348C>G	CA424762856	SOX11	c.627C>G (p.Gly209=)	gnomAD v4
2	g.5693348C>T	CA1517875	SOX11	c.627C>T (p.Gly209=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693349G>A	CA345867102	SOX11	c.628G>A (p.Gly210Ser)	ClinVar dbSNP gnomAD v4
2	g.5693349G>C	CA1517877	SOX11	c.628G>C (p.Gly210Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693349G=	CA1235660290	SOX11	c.628G= (p.Gly210=)
2	g.5693349G>T	CA1517876	SOX11	c.628G>T (p.Gly210Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693350G>A	CA345867103	SOX11	c.629G>A (p.Gly210Asp)	gnomAD v4
2	g.5693350G>C	CA345867104	SOX11	c.629G>C (p.Gly210Ala)
2	g.5693350G>T	CA345867105	SOX11	c.629G>T (p.Gly210Val)	gnomAD v4
2	g.5693351C>A	CA424762860	SOX11	c.630C>A (p.Gly210=)	gnomAD v4
2	g.5693351C>G	CA424762863	SOX11	c.630C>G (p.Gly210=)
2	g.5693351C>T	CA424762861	SOX11	c.630C>T (p.Gly210=)	gnomAD v4 COSMIC
2	g.5693352G>A	CA345867106	SOX11	c.631G>A (p.Gly211Ser)	gnomAD v4
2	g.5693352G>C	CA345867107	SOX11	c.631G>C (p.Gly211Arg)
2	g.5693352G>T	CA345867108	SOX11	c.631G>T (p.Gly211Cys)	gnomAD v4
2	g.5693353G>A	CA345867109	SOX11	c.632G>A (p.Gly211Asp)
2	g.5693353G>C	CA345867110	SOX11	c.632G>C (p.Gly211Ala)
2	g.5693353G>T	CA345867111	SOX11	c.632G>T (p.Gly211Val)	gnomAD v4
2	g.5693354C>A	CA424762864	SOX11	c.633C>A (p.Gly211=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693354C=	CA1235660294	SOX11	c.633C= (p.Gly211=)
2	g.5693354C>G	CA424762865	SOX11	c.633C>G (p.Gly211=)	gnomAD v4
2	g.5693354C>T	CA1517878	SOX11	c.633C>T (p.Gly211=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693355G>A	CA345867113	SOX11	c.634G>A (p.Gly212Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.5693355G>C	CA345867114	SOX11	c.634G>C (p.Gly212Arg)
2	g.5693355G=	CA1235660298	SOX11	c.634G= (p.Gly212=)
2	g.5693355G>T	CA345867112	SOX11	c.634G>T (p.Gly212Cys)	gnomAD v4
2	g.5693356G>A	CA345867116	SOX11	c.635G>A (p.Gly212Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.5693356G>C	CA345867115	SOX11	c.635G>C (p.Gly212Ala)
2	g.5693356G=	CA1235660302	SOX11	c.635G= (p.Gly212=)
2	g.5693356G>T	CA345867117	SOX11	c.635G>T (p.Gly212Val)	gnomAD v4
2	g.5693357C>A	CA424762872	SOX11	c.636C>A (p.Gly212=)	dbSNP gnomAD v2 gnomAD v4
2	g.5693357C=	CA1235660306	SOX11	c.636C= (p.Gly212=)
2	g.5693357C>G	CA424762873	SOX11	c.636C>G (p.Gly212=)	gnomAD v4
2	g.5693357C>T	CA1517879	SOX11	c.636C>T (p.Gly212=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693358G>A	CA345867120	SOX11	c.637G>A (p.Ala213Thr)
2	g.5693358G>C	CA345867118	SOX11	c.637G>C (p.Ala213Pro)
2	g.5693358G>T	CA345867119	SOX11	c.637G>T (p.Ala213Ser)	gnomAD v4
2	g.5693359C>A	CA1517880	SOX11	c.638C>A (p.Ala213Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693359C=	CA1235660308	SOX11	c.638C= (p.Ala213=)
2	g.5693359C>G	CA345867121	SOX11	c.638C>G (p.Ala213Gly)	dbSNP gnomAD v4
2	g.5693359C>T	CA345867122	SOX11	c.638C>T (p.Ala213Val)	gnomAD v4
2	g.5693360G>A	CA424762876	SOX11	c.639G>A (p.Ala213=)
2	g.5693360G>C	CA424762878	SOX11	c.639G>C (p.Ala213=)	gnomAD v4
2	g.5693360G>T	CA424762879	SOX11	c.639G>T (p.Ala213=)	gnomAD v4
2	g.5693361G>A	CA345867123	SOX11	c.640G>A (p.Gly214Ser)	dbSNP
2	g.5693361G>C	CA345867124	SOX11	c.640G>C (p.Gly214Arg)
2	g.5693361G=	CA1235660311	SOX11	c.640G= (p.Gly214=)
2	g.5693361G>T	CA345867125	SOX11	c.640G>T (p.Gly214Cys)
2	g.5693362G>A	CA345867126	SOX11	c.641G>A (p.Gly214Asp)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.5693362G>C	CA345867127	SOX11	c.641G>C (p.Gly214Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.5693362G=	CA1235660315	SOX11	c.641G= (p.Gly214=)
2	g.5693362G>T	CA345867128	SOX11	c.641G>T (p.Gly214Val)
2	g.5693363C>A	CA42006691	SOX11	c.642C>A (p.Gly214=)	dbSNP gnomAD v2 gnomAD v4
2	g.5693363C=	CA1235660317	SOX11	c.642C= (p.Gly214=)
2	g.5693363C>G	CA424762883	SOX11	c.642C>G (p.Gly214=)	dbSNP gnomAD v4
2	g.5693363C>T	CA424762882	SOX11	c.642C>T (p.Gly214=)	gnomAD v4
2	g.5693364A>C	CA345867131	SOX11	c.643A>C (p.Lys215Gln)
2	g.5693364A>G	CA345867130	SOX11	c.643A>G (p.Lys215Glu)	gnomAD v4
2	g.5693364A>T	CA345867129	SOX11	c.643A>T (p.Lys215Ter)
2	g.5693365A>C	CA345867132	SOX11	c.644A>C (p.Lys215Thr)
2	g.5693365A>G	CA345867133	SOX11	c.644A>G (p.Lys215Arg)
2	g.5693365A>T	CA345867134	SOX11	c.644A>T (p.Lys215Met)
2	g.5693366G>A	CA1517881	SOX11	c.645G>A (p.Lys215=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693366G>C	CA345867135	SOX11	c.645G>C (p.Lys215Asn)
2	g.5693366G=	CA1235660327	SOX11	c.645G= (p.Lys215=)
2	g.5693366G>T	CA345867136	SOX11	c.645G>T (p.Lys215Asn)
2	g.5693367A>C	CA345867137	SOX11	c.646A>C (p.Thr216Pro)
2	g.5693367A>G	CA345867138	SOX11	c.646A>G (p.Thr216Ala)	gnomAD v4
2	g.5693367A>T	CA345867139	SOX11	c.646A>T (p.Thr216Ser)
2	g.5693368C>A	CA345867140	SOX11	c.647C>A (p.Thr216Lys)
2	g.5693368C=	CA1235660333	SOX11	c.647C= (p.Thr216=)
2	g.5693368C>G	CA345867141	SOX11	c.647C>G (p.Thr216Arg)
2	g.5693368C>T	CA345867142	SOX11	c.647C>T (p.Thr216Met)	dbSNP gnomAD v2 gnomAD v4
2	g.5693369G>A	CA424762891	SOX11	c.648G>A (p.Thr216=)	gnomAD v4
2	g.5693369G>C	CA424762892	SOX11	c.648G>C (p.Thr216=)	dbSNP gnomAD v2 gnomAD v4
2	g.5693369G=	CA1235660341	SOX11	c.648G= (p.Thr216=)
2	g.5693369G>T	CA424762893	SOX11	c.648G>T (p.Thr216=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693370G>A	CA345867145	SOX11	c.649G>A (p.Val217Ile)	gnomAD v4
2	g.5693370G>C	CA345867144	SOX11	c.649G>C (p.Val217Leu)
2	g.5693370G>T	CA345867143	SOX11	c.649G>T (p.Val217Phe)	gnomAD v4
2	g.5693371T>A	CA345867146	SOX11	c.650T>A (p.Val217Asp)
2	g.5693371T>C	CA345867147	SOX11	c.650T>C (p.Val217Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.5693371T>G	CA345867148	SOX11	c.650T>G (p.Val217Gly)
2	g.5693371T=	CA1235660343	SOX11	c.650T= (p.Val217=)
2	g.5693371_5693372insGA	CA2573051996	SOX11	c.650_651insGA (p.Lys218ThrfsTer?)	ClinVar dbSNP
2	g.5693372C>A	CA424762896	SOX11	c.651C>A (p.Val217=)	gnomAD v4
2	g.5693372C>G	CA424762897	SOX11	c.651C>G (p.Val217=)
2	g.5693372C>T	CA424762898	SOX11	c.651C>T (p.Val217=)
2	g.5693373A>C	CA345867149	SOX11	c.652A>C (p.Lys218Gln)
2	g.5693373A>G	CA345867150	SOX11	c.652A>G (p.Lys218Glu)
2	g.5693373A>T	CA345867151	SOX11	c.652A>T (p.Lys218Ter)
2	g.5693374A>C	CA345867154	SOX11	c.653A>C (p.Lys218Thr)
2	g.5693374A>G	CA345867152	SOX11	c.653A>G (p.Lys218Arg)
2	g.5693374A>T	CA345867153	SOX11	c.653A>T (p.Lys218Met)
2	g.5693375G>A	CA424762902	SOX11	c.654G>A (p.Lys218=)	gnomAD v4
2	g.5693375G>C	CA345867155	SOX11	c.654G>C (p.Lys218Asn)
2	g.5693375G>T	CA345867156	SOX11	c.654G>T (p.Lys218Asn)	gnomAD v4
2	g.5693376T>A	CA345867157	SOX11	c.655T>A (p.Cys219Ser)
2	g.5693376T>C	CA345867158	SOX11	c.655T>C (p.Cys219Arg)
2	g.5693376T>G	CA345867159	SOX11	c.655T>G (p.Cys219Gly)
2	g.5693377G>A	CA345867160	SOX11	c.656G>A (p.Cys219Tyr)
2	g.5693377G>C	CA345867162	SOX11	c.656G>C (p.Cys219Ser)
2	g.5693377G>T	CA345867161	SOX11	c.656G>T (p.Cys219Phe)	gnomAD v4
2	g.5693378C>A	CA345867163	SOX11	c.657C>A (p.Cys219Ter)	ClinVar
2	g.5693378C>G	CA345867164	SOX11	c.657C>G (p.Cys219Trp)	gnomAD v4
2	g.5693378C>T	CA424762906	SOX11	c.657C>T (p.Cys219=)	gnomAD v4 COSMIC
2	g.5693379G>A	CA1517882	SOX11	c.658G>A (p.Val220Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693379G>C	CA345867165	SOX11	c.658G>C (p.Val220Leu)	dbSNP gnomAD v4
2	g.5693379G=	CA1235660346	SOX11	c.658G= (p.Val220=)
2	g.5693379G>T	CA345867166	SOX11	c.658G>T (p.Val220Leu)	gnomAD v4
2	g.5693380T>A	CA345867167	SOX11	c.659T>A (p.Val220Glu)
2	g.5693380T>C	CA345867168	SOX11	c.659T>C (p.Val220Ala)
2	g.5693380T>G	CA345867169	SOX11	c.659T>G (p.Val220Gly)
2	g.5693381G>A	CA424762912	SOX11	c.660G>A (p.Val220=)
2	g.5693381G>C	CA424762913	SOX11	c.660G>C (p.Val220=)
2	g.5693381G>T	CA424762915	SOX11	c.660G>T (p.Val220=)	gnomAD v4 COSMIC
2	g.5693382T>A	CA345867170	SOX11	c.661T>A (p.Phe221Ile)
2	g.5693382T>C	CA345867171	SOX11	c.661T>C (p.Phe221Leu)
2	g.5693382T>G	CA345867172	SOX11	c.661T>G (p.Phe221Val)
2	g.5693383T>A	CA345867174	SOX11	c.662T>A (p.Phe221Tyr)
2	g.5693383T>C	CA345867175	SOX11	c.662T>C (p.Phe221Ser)	gnomAD v4
2	g.5693383T>G	CA345867173	SOX11	c.662T>G (p.Phe221Cys)	dbSNP gnomAD v3 gnomAD v4
2	g.5693383T=	CA1235660352	SOX11	c.662T= (p.Phe221=)
2	g.5693384T>A	CA345867176	SOX11	c.663T>A (p.Phe221Leu)
2	g.5693384T>C	CA424762919	SOX11	c.663T>C (p.Phe221=)
2	g.5693384T>G	CA345867177	SOX11	c.663T>G (p.Phe221Leu)
2	g.5693385C>A	CA345867178	SOX11	c.664C>A (p.Leu222Met)	gnomAD v4
2	g.5693385C>G	CA345867179	SOX11	c.664C>G (p.Leu222Val)
2	g.5693385C>T	CA424762922	SOX11	c.664C>T (p.Leu222=)
2	g.5693386T>A	CA345867180	SOX11	c.665T>A (p.Leu222Gln)
2	g.5693386T>C	CA345867181	SOX11	c.665T>C (p.Leu222Pro)	dbSNP gnomAD v4
2	g.5693386T>G	CA345867182	SOX11	c.665T>G (p.Leu222Arg)
2	g.5693386T=	CA1235660356	SOX11	c.665T= (p.Leu222=)
2	g.5693387G>A	CA424762924	SOX11	c.666G>A (p.Leu222=)	gnomAD v4
2	g.5693387G>C	CA424762928	SOX11	c.666G>C (p.Leu222=)
2	g.5693387G>T	CA424762926	SOX11	c.666G>T (p.Leu222=)
2	g.5693388del	CA2526845394	SOX11	c.667del (p.Asp223MetfsTer?)
2	g.5693388G>A	CA345867183	SOX11	c.667G>A (p.Asp223Asn)	dbSNP gnomAD v2
2	g.5693388G>C	CA345867184	SOX11	c.667G>C (p.Asp223His)	gnomAD v4
2	g.5693388G=	CA1235660358	SOX11	c.667G= (p.Asp223=)
2	g.5693388G>T	CA345867185	SOX11	c.667G>T (p.Asp223Tyr)
2	g.5693389A>C	CA345867188	SOX11	c.668A>C (p.Asp223Ala)
2	g.5693389A>G	CA345867187	SOX11	c.668A>G (p.Asp223Gly)	gnomAD v4
2	g.5693389A>T	CA345867186	SOX11	c.668A>T (p.Asp223Val)
2	g.5693390T>A	CA345867189	SOX11	c.669T>A (p.Asp223Glu)
2	g.5693390T>C	CA424762933	SOX11	c.669T>C (p.Asp223=)	gnomAD v4
2	g.5693390T>G	CA345867190	SOX11	c.669T>G (p.Asp223Glu)	dbSNP
2	g.5693390T=	CA1235660361	SOX11	c.669T= (p.Asp223=)
2	g.5693391G>A	CA345867191	SOX11	c.670G>A (p.Glu224Lys)
2	g.5693391G>C	CA345867192	SOX11	c.670G>C (p.Glu224Gln)
2	g.5693391G>T	CA345867193	SOX11	c.670G>T (p.Glu224Ter)	gnomAD v4
2	g.5693392A>C	CA345867194	SOX11	c.671A>C (p.Glu224Ala)
2	g.5693392A>G	CA345867195	SOX11	c.671A>G (p.Glu224Gly)
2	g.5693392A>T	CA345867196	SOX11	c.671A>T (p.Glu224Val)
2	g.5693393G>A	CA424762938	SOX11	c.672G>A (p.Glu224=)
2	g.5693393G>C	CA345867197	SOX11	c.672G>C (p.Glu224Asp)
2	g.5693393G>T	CA345867198	SOX11	c.672G>T (p.Glu224Asp)
2	g.5693393_5693405delinsGGACGACGACGAC	CA1235660364	SOX11	c.672_684delinsGGACGACGACGAC (p.Glu224=)
2	g.5693394G>A	CA345867200	SOX11	c.673G>A (p.Asp225Asn)	ClinVar
2	g.5693394G>C	CA345867201	SOX11	c.673G>C (p.Asp225His)
2	g.5693394G>T	CA345867199	SOX11	c.673G>T (p.Asp225Tyr)	gnomAD v4
2	g.5693420_5693422dup	CA1517886	SOX11	c.699_701dup (p.Asp233_Glu234insAsp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693417_5693422dup	CA1517887	SOX11	c.696_701dup (p.Asp233_Glu234insAspAsp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693414_5693422dup	CA1517888	SOX11	c.693_701dup (p.Asp233_Glu234insAspAspAsp)	dbSNP ExAC gnomAD v4
2	g.5693411_5693422dup	CA2657723944	SOX11	c.690_701dup (p.Asp233_Glu234insAspAspAspAsp)	gnomAD v4
2	g.5693420_5693422del	CA1517883	SOX11	c.699_701del (p.Asp233del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.5693417_5693422del	CA1517884	SOX11	c.696_701del (p.Asp232_Asp233del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693414_5693422del	CA1517885	SOX11	c.693_701del (p.Asp231_Asp233del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693411_5693422del	CA42006692	SOX11	c.690_701del (p.Asp230_Asp233del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693408_5693422del	CA2657723943	SOX11	c.687_701del (p.Asp229_Asp233del)	gnomAD v4
2	g.5693405_5693422del	CA2657723942	SOX11	c.684_701del (p.Asp228_Asp233del)	gnomAD v4
2	g.5693395A=	CA1235660381	SOX11	c.674A= (p.Asp225=)
2	g.5693395A>C	CA345867202	SOX11	c.674A>C (p.Asp225Ala)
2	g.5693395A>G	CA1517889	SOX11	c.674A>G (p.Asp225Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693395A>T	CA345867203	SOX11	c.674A>T (p.Asp225Val)
2	g.5693396del	CA2657723945	SOX11	c.675del (p.Asp225GlufsTer?)	gnomAD v4
2	g.5693396C>A	CA345867204	SOX11	c.675C>A (p.Asp225Glu)
2	g.5693396C=	CA1235660385	SOX11	c.675C= (p.Asp225=)
2	g.5693396C>G	CA345867205	SOX11	c.675C>G (p.Asp225Glu)	dbSNP
2	g.5693396C>T	CA424762955	SOX11	c.675C>T (p.Asp225=)	gnomAD v4
2	g.5693397G>A	CA345867206	SOX11	c.676G>A (p.Asp226Asn)	gnomAD v4
2	g.5693397G>C	CA345867208	SOX11	c.676G>C (p.Asp226His)	gnomAD v4
2	g.5693397G>T	CA345867207	SOX11	c.676G>T (p.Asp226Tyr)
2	g.5693397_5693398del	CA2657723946	SOX11	c.676_677del (p.Asp226ArgfsTer?)	gnomAD v4
2	g.5693398_5693399insAGA	CA2698607387	SOX11	c.677_678insAGA (p.Asp225_Asp226insGlu)	dbSNP
2	g.5693398A>C	CA345867209	SOX11	c.677A>C (p.Asp226Ala)
2	g.5693398A>G	CA345867210	SOX11	c.677A>G (p.Asp226Gly)	gnomAD v4
2	g.5693398A>T	CA345867211	SOX11	c.677A>T (p.Asp226Val)
2	g.5693399C>A	CA345867212	SOX11	c.678C>A (p.Asp226Glu)	dbSNP gnomAD v2 gnomAD v4
2	g.5693399C=	CA1235660391	SOX11	c.678C= (p.Asp226=)
2	g.5693399C>G	CA345867213	SOX11	c.678C>G (p.Asp226Glu)
2	g.5693399C>T	CA424762959	SOX11	c.678C>T (p.Asp226=)	gnomAD v4 COSMIC
2	g.5693400G>A	CA345867214	SOX11	c.679G>A (p.Asp227Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693400G>C	CA1517890	SOX11	c.679G>C (p.Asp227His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693400G=	CA1235660395	SOX11	c.679G= (p.Asp227=)
2	g.5693400G>T	CA345867215	SOX11	c.679G>T (p.Asp227Tyr)	gnomAD v4
2	g.5693401A>C	CA345867216	SOX11	c.680A>C (p.Asp227Ala)
2	g.5693401A>G	CA345867217	SOX11	c.680A>G (p.Asp227Gly)	gnomAD v4
2	g.5693401A>T	CA345867218	SOX11	c.680A>T (p.Asp227Val)
2	g.5693402C>A	CA345867219	SOX11	c.681C>A (p.Asp227Glu)	dbSNP gnomAD v4
2	g.5693402C=	CA1235660398	SOX11	c.681C= (p.Asp227=)
2	g.5693402C>G	CA1517891	SOX11	c.681C>G (p.Asp227Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693402C>T	CA424762962	SOX11	c.681C>T (p.Asp227=)	dbSNP gnomAD v2 gnomAD v4
2	g.5693403G>A	CA345867220	SOX11	c.682G>A (p.Asp228Asn)	gnomAD v4
2	g.5693403G>C	CA345867221	SOX11	c.682G>C (p.Asp228His)	dbSNP gnomAD v4
2	g.5693403G=	CA1235660401	SOX11	c.682G= (p.Asp228=)
2	g.5693403G>T	CA345867222	SOX11	c.682G>T (p.Asp228Tyr)	gnomAD v4
2	g.5693404del	CA2698599662	SOX11	c.683del (p.Asp228AlafsTer?)	dbSNP
2	g.5693404A>C	CA345867223	SOX11	c.683A>C (p.Asp228Ala)	dbSNP
2	g.5693404A>G	CA345867224	SOX11	c.683A>G (p.Asp228Gly)
2	g.5693404A>T	CA345867225	SOX11	c.683A>T (p.Asp228Val)
2	g.5693405C>A	CA345867226	SOX11	c.684C>A (p.Asp228Glu)	dbSNP gnomAD v2 gnomAD v4
2	g.5693405C=	CA1235660406	SOX11	c.684C= (p.Asp228=)
2	g.5693405C>G	CA1517892	SOX11	c.684C>G (p.Asp228Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693405C>T	CA424762963	SOX11	c.684C>T (p.Asp228=)	dbSNP gnomAD v3 gnomAD v4
2	g.5693406G>A	CA345867229	SOX11	c.685G>A (p.Asp229Asn)	gnomAD v4
2	g.5693406G>C	CA345867228	SOX11	c.685G>C (p.Asp229His)
2	g.5693406G=	CA1235660409	SOX11	c.685G= (p.Asp229=)
2	g.5693406G>T	CA345867227	SOX11	c.685G>T (p.Asp229Tyr)	dbSNP gnomAD v4
2	g.5693406_5693407del	CA2698599696	SOX11	c.685_686del (p.Asp229ArgfsTer?)	dbSNP
2	g.5693407A=	CA1235660412	SOX11	c.686A= (p.Asp229=)
2	g.5693407A>C	CA345867230	SOX11	c.686A>C (p.Asp229Ala)
2	g.5693407A>G	CA345867232	SOX11	c.686A>G (p.Asp229Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.5693407A>T	CA345867231	SOX11	c.686A>T (p.Asp229Val)
2	g.5693408C>A	CA345867233	SOX11	c.687C>A (p.Asp229Glu)	gnomAD v4
2	g.5693408C>G	CA345867234	SOX11	c.687C>G (p.Asp229Glu)
2	g.5693408C>T	CA424762965	SOX11	c.687C>T (p.Asp229=)	gnomAD v4
2	g.5693409G>A	CA345867235	SOX11	c.688G>A (p.Asp230Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.5693409G>C	CA345867236	SOX11	c.688G>C (p.Asp230His)	gnomAD v4
2	g.5693409G=	CA1235660414	SOX11	c.688G= (p.Asp230=)
2	g.5693409G>T	CA345867237	SOX11	c.688G>T (p.Asp230Tyr)	gnomAD v4
2	g.5693410A=	CA1235660416	SOX11	c.689A= (p.Asp230=)
2	g.5693410A>C	CA345867238	SOX11	c.689A>C (p.Asp230Ala)
2	g.5693410A>G	CA345867239	SOX11	c.689A>G (p.Asp230Gly)
2	g.5693410A>T	CA1517893	SOX11	c.689A>T (p.Asp230Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693411C>A	CA1517894	SOX11	c.690C>A (p.Asp230Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693411C=	CA1235660419	SOX11	c.690C= (p.Asp230=)
2	g.5693411C>G	CA345867240	SOX11	c.690C>G (p.Asp230Glu)
2	g.5693411C>T	CA424762969	SOX11	c.690C>T (p.Asp230=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.5693412G>A	CA345867241	SOX11	c.691G>A (p.Asp231Asn)	dbSNP gnomAD v4
2	g.5693412G>C	CA345867242	SOX11	c.691G>C (p.Asp231His)
2	g.5693412G=	CA1235660422	SOX11	c.691G= (p.Asp231=)
2	g.5693412G>T	CA345867243	SOX11	c.691G>T (p.Asp231Tyr)	gnomAD v4
2	g.5693413A=	CA1235660424	SOX11	c.692A= (p.Asp231=)
2	g.5693413A>C	CA345867244	SOX11	c.692A>C (p.Asp231Ala)
2	g.5693413A>G	CA1517895	SOX11	c.692A>G (p.Asp231Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693413A>T	CA345867245	SOX11	c.692A>T (p.Asp231Val)	gnomAD v4
2	g.5693414_5693415insCAC	CA2576667538	SOX11	c.693_694insCAC (p.Asp231_Asp232insHis)
2	g.5693414C>A	CA1517897	SOX11	c.693C>A (p.Asp231Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693414C=	CA1235660426	SOX11	c.693C= (p.Asp231=)
2	g.5693414C>G	CA345867246	SOX11	c.693C>G (p.Asp231Glu)
2	g.5693414C>T	CA1517896	SOX11	c.693C>T (p.Asp231=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693415G>A	CA345867247	SOX11	c.694G>A (p.Asp232Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.5693415G>C	CA345867248	SOX11	c.694G>C (p.Asp232His)
2	g.5693415G=	CA1235660429	SOX11	c.694G= (p.Asp232=)
2	g.5693415G>T	CA345867249	SOX11	c.694G>T (p.Asp232Tyr)	gnomAD v4
2	g.5693416A>C	CA345867250	SOX11	c.695A>C (p.Asp232Ala)
2	g.5693416A>G	CA345867251	SOX11	c.695A>G (p.Asp232Gly)
2	g.5693416A>T	CA345867252	SOX11	c.695A>T (p.Asp232Val)	COSMIC
2	g.5693417C>A	CA345867253	SOX11	c.696C>A (p.Asp232Glu)
2	g.5693417C=	CA1235660431	SOX11	c.696C= (p.Asp232=)
2	g.5693417C>G	CA345867254	SOX11	c.696C>G (p.Asp232Glu)	dbSNP gnomAD v3 gnomAD v4
2	g.5693417C>T	CA424762971	SOX11	c.696C>T (p.Asp232=)	dbSNP gnomAD v4
2	g.5693418G>A	CA42006693	SOX11	c.697G>A (p.Asp233Asn)	ClinVar dbSNP gnomAD v2
2	g.5693418G>C	CA345867256	SOX11	c.697G>C (p.Asp233His)	dbSNP gnomAD v3 gnomAD v4
2	g.5693418G=	CA1235660433	SOX11	c.697G= (p.Asp233=)
2	g.5693418G>T	CA345867255	SOX11	c.697G>T (p.Asp233Tyr)	gnomAD v4
2	g.5693419A>C	CA345867259	SOX11	c.698A>C (p.Asp233Ala)
2	g.5693419A>G	CA345867257	SOX11	c.698A>G (p.Asp233Gly)
2	g.5693419A>T	CA345867258	SOX11	c.698A>T (p.Asp233Val)
2	g.5693420C>A	CA345867260	SOX11	c.699C>A (p.Asp233Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.5693420C=	CA1235660439	SOX11	c.699C= (p.Asp233=)
2	g.5693420C>G	CA345867261	SOX11	c.699C>G (p.Asp233Glu)	dbSNP gnomAD v4
2	g.5693420C>T	CA424762974	SOX11	c.699C>T (p.Asp233=)	gnomAD v4 COSMIC
2	g.5693421G>A	CA345867262	SOX11	c.700G>A (p.Glu234Lys)	gnomAD v4 COSMIC
2	g.5693421G>C	CA1517898	SOX11	c.700G>C (p.Glu234Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.5693421G=	CA1235660445	SOX11	c.700G= (p.Glu234=)
2	g.5693421G>T	CA345867263	SOX11	c.700G>T (p.Glu234Ter)	ClinVar dbSNP gnomAD v4

Number of alleles fetched