Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72123860T>A	CA400867504	SOX9	c.1003T>A (p.Trp335Arg)
17	g.72123860T>C	CA400867503	SOX9	c.1003T>C (p.Trp335Arg)
17	g.72123860T>G	CA400867505	SOX9	c.1003T>G (p.Trp335Gly)	dbSNP
17	g.72123860T=	CA2273926480	SOX9	c.1003T= (p.Trp335=)
17	g.72123860_72123861insA	CA2830850652	SOX9	c.1003_1004insA (p.Trp335Ter)
17	g.72123861G>A	CA400867506	SOX9	c.1004G>A (p.Trp335Ter)	dbSNP
17	g.72123861G>C	CA400867508	SOX9	c.1004G>C (p.Trp335Ser)
17	g.72123861G>T	CA400867507	SOX9	c.1004G>T (p.Trp335Leu)	gnomAD v4
17	g.72123862G>A	CA400867509	SOX9	c.1005G>A (p.Trp335Ter)	dbSNP COSMIC
17	g.72123862G>C	CA400867510	SOX9	c.1005G>C (p.Trp335Cys)	dbSNP
17	g.72123862G=	CA2273926481	SOX9	c.1005G= (p.Trp335=)
17	g.72123862G>T	CA400867511	SOX9	c.1005G>T (p.Trp335Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.72123863A=	CA2273926482	SOX9	c.1006A= (p.Met336=)
17	g.72123863A>C	CA400867512	SOX9	c.1006A>C (p.Met336Leu)	gnomAD v4
17	g.72123863A>G	CA400867513	SOX9	c.1006A>G (p.Met336Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123863A>T	CA400867514	SOX9	c.1006A>T (p.Met336Leu)	dbSNP gnomAD v4
17	g.72123864T>A	CA400867515	SOX9	c.1007T>A (p.Met336Lys)	dbSNP
17	g.72123864T>C	CA400867516	SOX9	c.1007T>C (p.Met336Thr)
17	g.72123864T>G	CA400867517	SOX9	c.1007T>G (p.Met336Arg)	dbSNP
17	g.72123865G>A	CA400867518	SOX9	c.1008G>A (p.Met336Ile)	dbSNP gnomAD v4
17	g.72123865G>C	CA400867519	SOX9	c.1008G>C (p.Met336Ile)	dbSNP
17	g.72123865G>T	CA400867520	SOX9	c.1008G>T (p.Met336Ile)
17	g.72123866T>A	CA400867522	SOX9	c.1009T>A (p.Ser337Thr)	dbSNP
17	g.72123866T>C	CA400867521	SOX9	c.1009T>C (p.Ser337Pro)	dbSNP gnomAD v4
17	g.72123866T>G	CA8739076	SOX9	c.1009T>G (p.Ser337Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123866T=	CA2273926483	SOX9	c.1009T= (p.Ser337=)
17	g.72123867C>A	CA400867523	SOX9	c.1010C>A (p.Ser337Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.72123867C=	CA2273926484	SOX9	c.1010C= (p.Ser337=)
17	g.72123867C>G	CA400867524	SOX9	c.1010C>G (p.Ser337Cys)	dbSNP
17	g.72123867C>T	CA400867525	SOX9	c.1010C>T (p.Ser337Phe)	dbSNP
17	g.72123868C>A	CA501432679	SOX9	c.1011C>A (p.Ser337=)	dbSNP gnomAD v4
17	g.72123868C=	CA2273926485	SOX9	c.1011C= (p.Ser337=)
17	g.72123868C>G	CA501432680	SOX9	c.1011C>G (p.Ser337=)	dbSNP gnomAD v2
17	g.72123868C>T	CA501432681	SOX9	c.1011C>T (p.Ser337=)	dbSNP gnomAD v4
17	g.72123869A>C	CA400867526	SOX9	c.1012A>C (p.Lys338Gln)
17	g.72123869A>G	CA400867527	SOX9	c.1012A>G (p.Lys338Glu)
17	g.72123869A>T	CA400867528	SOX9	c.1012A>T (p.Lys338Ter)
17	g.72123870A=	CA2273926486	SOX9	c.1013A= (p.Lys338=)
17	g.72123870A>C	CA400867529	SOX9	c.1013A>C (p.Lys338Thr)	dbSNP
17	g.72123870A>G	CA400867530	SOX9	c.1013A>G (p.Lys338Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.72123870A>T	CA400867531	SOX9	c.1013A>T (p.Lys338Met)	dbSNP
17	g.72123871G>A	CA501432682	SOX9	c.1014G>A (p.Lys338=)	dbSNP gnomAD v4
17	g.72123871G>C	CA400867532	SOX9	c.1014G>C (p.Lys338Asn)	dbSNP
17	g.72123871G>T	CA400867533	SOX9	c.1014G>T (p.Lys338Asn)	dbSNP gnomAD v4
17	g.72123878_72123901del	CA2639603146	SOX9	c.1021_1044del (p.Ala341_Gln348del)	gnomAD v4
17	g.72123872C>A	CA400867536	SOX9	c.1015C>A (p.Gln339Lys)	dbSNP
17	g.72123872C>G	CA400867535	SOX9	c.1015C>G (p.Gln339Glu)	dbSNP
17	g.72123872C>T	CA400867534	SOX9	c.1015C>T (p.Gln339Ter)	dbSNP COSMIC
17	g.72123873A>C	CA400867537	SOX9	c.1016A>C (p.Gln339Pro)
17	g.72123873A>G	CA400867538	SOX9	c.1016A>G (p.Gln339Arg)
17	g.72123873A>T	CA400867539	SOX9	c.1016A>T (p.Gln339Leu)
17	g.72123874G>A	CA501432683	SOX9	c.1017G>A (p.Gln339=)	dbSNP gnomAD v4
17	g.72123874G>C	CA400867540	SOX9	c.1017G>C (p.Gln339His)	dbSNP gnomAD v4
17	g.72123874G>T	CA400867541	SOX9	c.1017G>T (p.Gln339His)
17	g.72123875C>A	CA400867542	SOX9	c.1018C>A (p.Gln340Lys)	gnomAD v4
17	g.72123875C=	CA2273926487	SOX9	c.1018C= (p.Gln340=)
17	g.72123875C>G	CA400867543	SOX9	c.1018C>G (p.Gln340Glu)	dbSNP
17	g.72123875C>T	CA400867544	SOX9	c.1018C>T (p.Gln340Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72123876A=	CA2273926488	SOX9	c.1019A= (p.Gln340=)
17	g.72123876A>C	CA400867545	SOX9	c.1019A>C (p.Gln340Pro)
17	g.72123876A>G	CA400867547	SOX9	c.1019A>G (p.Gln340Arg)	dbSNP gnomAD v4
17	g.72123876A>T	CA400867546	SOX9	c.1019A>T (p.Gln340Leu)	dbSNP
17	g.72123877G>A	CA501432684	SOX9	c.1020G>A (p.Gln340=)	dbSNP gnomAD v4
17	g.72123877G>C	CA400867548	SOX9	c.1020G>C (p.Gln340His)	dbSNP
17	g.72123877G>T	CA400867549	SOX9	c.1020G>T (p.Gln340His)	dbSNP
17	g.72123878G>A	CA400867550	SOX9	c.1021G>A (p.Ala341Thr)	gnomAD v4
17	g.72123878G>C	CA400867551	SOX9	c.1021G>C (p.Ala341Pro)
17	g.72123878G=	CA2273926489	SOX9	c.1021G= (p.Ala341=)
17	g.72123878G>T	CA400867552	SOX9	c.1021G>T (p.Ala341Ser)
17	g.72123879C>A	CA400867555	SOX9	c.1022C>A (p.Ala341Glu)	gnomAD v4
17	g.72123879C=	CA2273926490	SOX9	c.1022C= (p.Ala341=)
17	g.72123879C>G	CA400867554	SOX9	c.1022C>G (p.Ala341Gly)	dbSNP
17	g.72123879C>T	CA400867553	SOX9	c.1022C>T (p.Ala341Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123886_72123888dup	CA8739077	SOX9	c.1029_1031dup (p.Pro344_Pro345insPro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123883_72123888dup	CA2576374514	SOX9	c.1026_1031dup (p.Pro344_Pro345insProPro)
17	g.72123880G>A	CA501432687	SOX9	c.1023G>A (p.Ala341=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.72123880G>C	CA501432686	SOX9	c.1023G>C (p.Ala341=)
17	g.72123880G=	CA2273926491	SOX9	c.1023G= (p.Ala341=)
17	g.72123880G>T	CA501432685	SOX9	c.1023G>T (p.Ala341=)
17	g.72123881C>A	CA400867556	SOX9	c.1024C>A (p.Pro342Thr)
17	g.72123881C>G	CA400867557	SOX9	c.1024C>G (p.Pro342Ala)
17	g.72123881C>T	CA400867558	SOX9	c.1024C>T (p.Pro342Ser)	gnomAD v4
17	g.72123887_72123919dup	CA774801270	SOX9	c.1030_1062dup (p.Pro354_Ala355insProProProGlnGlnProProGlnAlaProPro)	dbSNP
17	g.72123882C>A	CA400867559	SOX9	c.1025C>A (p.Pro342Gln)	dbSNP gnomAD v4
17	g.72123882C=	CA2273926492	SOX9	c.1025C= (p.Pro342=)
17	g.72123882C>G	CA400867560	SOX9	c.1025C>G (p.Pro342Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.72123882C>T	CA400867561	SOX9	c.1025C>T (p.Pro342Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.72123883G>A	CA501432688	SOX9	c.1026G>A (p.Pro342=)	dbSNP gnomAD v4
17	g.72123883G>C	CA501432689	SOX9	c.1026G>C (p.Pro342=)	dbSNP
17	g.72123883G=	CA2273926493	SOX9	c.1026G= (p.Pro342=)
17	g.72123883G>T	CA501432690	SOX9	c.1026G>T (p.Pro342=)	dbSNP
17	g.72123884C>A	CA400867562	SOX9	c.1027C>A (p.Pro343Thr)
17	g.72123884C=	CA2273926494	SOX9	c.1027C= (p.Pro343=)
17	g.72123884C>G	CA400867563	SOX9	c.1027C>G (p.Pro343Ala)
17	g.72123884C>T	CA400867564	SOX9	c.1027C>T (p.Pro343Ser)	dbSNP
17	g.72123885C>A	CA400867565	SOX9	c.1028C>A (p.Pro343Gln)	dbSNP gnomAD v4
17	g.72123885C=	CA2273926495	SOX9	c.1028C= (p.Pro343=)
17	g.72123885C>G	CA400867566	SOX9	c.1028C>G (p.Pro343Arg)
17	g.72123885C>T	CA400867567	SOX9	c.1028C>T (p.Pro343Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.72123886G>A	CA8739078	SOX9	c.1029G>A (p.Pro343=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123886G>C	CA501432691	SOX9	c.1029G>C (p.Pro343=)	dbSNP
17	g.72123886G=	CA2273926496	SOX9	c.1029G= (p.Pro343=)
17	g.72123886G>T	CA501432692	SOX9	c.1029G>T (p.Pro343=)	gnomAD v4
17	g.72123887C>A	CA400867568	SOX9	c.1030C>A (p.Pro344Thr)	gnomAD v4
17	g.72123887C>G	CA400867569	SOX9	c.1030C>G (p.Pro344Ala)	dbSNP
17	g.72123887C>T	CA400867570	SOX9	c.1030C>T (p.Pro344Ser)	dbSNP
17	g.72123888dup	CA915952176	SOX9	c.1031dup (p.Pro345ThrfsTer?)	ClinVar dbSNP
17	g.72123888C>A	CA400867573	SOX9	c.1031C>A (p.Pro344Gln)
17	g.72123888C>G	CA400867572	SOX9	c.1031C>G (p.Pro344Arg)
17	g.72123888C>T	CA400867571	SOX9	c.1031C>T (p.Pro344Leu)
17	g.72123904_72123987del	CA913189140	SOX9	c.1047_1130del (p.Pro350_Pro377del)	gnomAD v4
17	g.72123889A=	CA2273926497	SOX9	c.1032A= (p.Pro344=)
17	g.72123889A>C	CA501432695	SOX9	c.1032A>C (p.Pro344=)	dbSNP gnomAD v4
17	g.72123889A>G	CA501432694	SOX9	c.1032A>G (p.Pro344=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123889A>T	CA501432693	SOX9	c.1032A>T (p.Pro344=)	dbSNP gnomAD v4
17	g.72123889_72123901delinsACCCCCGCAGCAG	CA2273926498	SOX9	c.1032_1044delinsACCCCCGCAGCAG (p.Pro344=)
17	g.72123890C>A	CA400867574	SOX9	c.1033C>A (p.Pro345Thr)	dbSNP gnomAD v4
17	g.72123890C=	CA2273926499	SOX9	c.1033C= (p.Pro345=)
17	g.72123890C>G	CA400867575	SOX9	c.1033C>G (p.Pro345Ala)
17	g.72123890C>T	CA8739079	SOX9	c.1033C>T (p.Pro345Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123892_72123894dup	CA2810344962	SOX9	c.1035_1037dup (p.Pro346_Gln347insPro)
17	g.72123894del	CA645598931	SOX9	c.1037del (p.Pro346ArgfsTer?)	ClinVar gnomAD v4 COSMIC
17	g.72123895_72123906dup	CA2639603156	SOX9	c.1038_1049dup (p.Pro350_Gln351insGlnGlnProPro)	gnomAD v4
17	g.72123895_72123906del	CA627589952	SOX9	c.1038_1049del (p.Gln347_Pro350del)	dbSNP gnomAD v2
17	g.72123891C>A	CA400867576	SOX9	c.1034C>A (p.Pro345His)
17	g.72123891C>G	CA400867577	SOX9	c.1034C>G (p.Pro345Arg)
17	g.72123891C>T	CA400867578	SOX9	c.1034C>T (p.Pro345Leu)
17	g.72123892C>A	CA501432698	SOX9	c.1035C>A (p.Pro345=)	dbSNP gnomAD v4
17	g.72123892C>G	CA501432697	SOX9	c.1035C>G (p.Pro345=)
17	g.72123892C>T	CA501432696	SOX9	c.1035C>T (p.Pro345=)
17	g.72123893C>A	CA400867581	SOX9	c.1036C>A (p.Pro346Thr)	dbSNP
17	g.72123893C=	CA2273926500	SOX9	c.1036C= (p.Pro346=)
17	g.72123893C>G	CA400867579	SOX9	c.1036C>G (p.Pro346Ala)	dbSNP gnomAD v4
17	g.72123893C>T	CA400867580	SOX9	c.1036C>T (p.Pro346Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123894C>A	CA400867582	SOX9	c.1037C>A (p.Pro346Gln)
17	g.72123894C=	CA2273926501	SOX9	c.1037C= (p.Pro346=)
17	g.72123894C>G	CA400867583	SOX9	c.1037C>G (p.Pro346Arg)	dbSNP gnomAD v4
17	g.72123894C>T	CA400867584	SOX9	c.1037C>T (p.Pro346Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123895G>A	CA8739080	SOX9	c.1038G>A (p.Pro346=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123895G>C	CA501432700	SOX9	c.1038G>C (p.Pro346=)	dbSNP
17	g.72123895G=	CA2273926502	SOX9	c.1038G= (p.Pro346=)
17	g.72123895G>T	CA501432699	SOX9	c.1038G>T (p.Pro346=)	dbSNP
17	g.72123896C>A	CA400867585	SOX9	c.1039C>A (p.Gln347Lys)	dbSNP
17	g.72123896C>G	CA400867586	SOX9	c.1039C>G (p.Gln347Glu)	dbSNP
17	g.72123896C>T	CA400867587	SOX9	c.1039C>T (p.Gln347Ter)	dbSNP
17	g.72123897A>C	CA400867588	SOX9	c.1040A>C (p.Gln347Pro)	dbSNP
17	g.72123897A>G	CA400867589	SOX9	c.1040A>G (p.Gln347Arg)	dbSNP gnomAD v4
17	g.72123897A>T	CA400867590	SOX9	c.1040A>T (p.Gln347Leu)	dbSNP
17	g.72123898G>A	CA501432701	SOX9	c.1041G>A (p.Gln347=)	dbSNP gnomAD v4
17	g.72123898G>C	CA400867591	SOX9	c.1041G>C (p.Gln347His)	dbSNP
17	g.72123898G>T	CA400867592	SOX9	c.1041G>T (p.Gln347His)
17	g.72123898_72123906del	CA2639603157	SOX9	c.1041_1049del (p.Gln348_Pro350del)	gnomAD v4
17	g.72123898_72123907delinsGCAGCCCCCA	CA2273926503	SOX9	c.1041_1050delinsGCAGCCCCCA (p.Gln347=)
17	g.72123899C>A	CA400867593	SOX9	c.1042C>A (p.Gln348Lys)	gnomAD v4
17	g.72123899C>G	CA400867595	SOX9	c.1042C>G (p.Gln348Glu)
17	g.72123899C>T	CA400867594	SOX9	c.1042C>T (p.Gln348Ter)	dbSNP gnomAD v4 COSMIC
17	g.72123902_72123910del	CA2273926504	SOX9	c.1045_1053del (p.Pro349_Gln351del)	dbSNP gnomAD v4
17	g.72123900A>C	CA400867596	SOX9	c.1043A>C (p.Gln348Pro)	ClinVar dbSNP
17	g.72123900A>G	CA400867597	SOX9	c.1043A>G (p.Gln348Arg)
17	g.72123900A>T	CA400867598	SOX9	c.1043A>T (p.Gln348Leu)
17	g.72123901G>A	CA501432702	SOX9	c.1044G>A (p.Gln348=)	gnomAD v4
17	g.72123901G>C	CA400867599	SOX9	c.1044G>C (p.Gln348His)
17	g.72123901G>T	CA400867600	SOX9	c.1044G>T (p.Gln348His)	gnomAD v4
17	g.72123901_72123902delinsAG	CA2273926507	SOX9	c.1044_1045delinsAG (p.Pro349Ala)	dbSNP
17	g.72123901_72123902delinsGC	CA2273926505	SOX9	c.1044_1045delinsGC (p.Gln348=)
17	g.72123901_72123903delinsGCC	CA2273926506	SOX9	c.1044_1046delinsGCC (p.Gln348=)
17	g.72123902C>A	CA400867601	SOX9	c.1045C>A (p.Pro349Thr)	dbSNP gnomAD v4
17	g.72123902C=	CA2273926509	SOX9	c.1045C= (p.Pro349=)
17	g.72123902C>G	CA400867602	SOX9	c.1045C>G (p.Pro349Ala)	dbSNP
17	g.72123902C>T	CA400867603	SOX9	c.1045C>T (p.Pro349Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123906del	CA2576374515	SOX9	c.1049del (p.Pro350HisfsTer?)	dbSNP gnomAD v4
17	g.72123905_72123906del	CA2273926508	SOX9	c.1048_1049del (p.Pro350ThrfsTer?)	dbSNP
17	g.72123902_72123920delinsCCCCCACAGGCCCCGCCGG	CA2273926510	SOX9	c.1045_1063delinsCCCCCACAGGCCCCGCCGG (p.Pro349=)
17	g.72123903C>A	CA400867604	SOX9	c.1046C>A (p.Pro349His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123903C=	CA2273926512	SOX9	c.1046C= (p.Pro349=)
17	g.72123903C>G	CA400867605	SOX9	c.1046C>G (p.Pro349Arg)
17	g.72123903C>T	CA400867606	SOX9	c.1046C>T (p.Pro349Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.72123907_72123924del	CA2273926511	SOX9	c.1050_1067del (p.Gln351_Pro356del)	dbSNP
17	g.72123904C>A	CA501432703	SOX9	c.1047C>A (p.Pro349=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123904C=	CA2273926513	SOX9	c.1047C= (p.Pro349=)
17	g.72123904C>G	CA501432704	SOX9	c.1047C>G (p.Pro349=)
17	g.72123904C>T	CA501432705	SOX9	c.1047C>T (p.Pro349=)	gnomAD v4
17	g.72123905C>A	CA400867609	SOX9	c.1048C>A (p.Pro350Thr)	dbSNP gnomAD v4
17	g.72123905C>G	CA400867608	SOX9	c.1048C>G (p.Pro350Ala)	dbSNP
17	g.72123905C>T	CA400867607	SOX9	c.1048C>T (p.Pro350Ser)	gnomAD v4
17	g.72123906_72123989del	CA2639603158	SOX9	c.1049_1132del (p.Pro350_Pro377del)	gnomAD v4
17	g.72123906C>A	CA400867610	SOX9	c.1049C>A (p.Pro350Gln)	dbSNP gnomAD v4
17	g.72123906C=	CA2273926514	SOX9	c.1049C= (p.Pro350=)
17	g.72123906C>G	CA400867611	SOX9	c.1049C>G (p.Pro350Arg)
17	g.72123906C>T	CA400867612	SOX9	c.1049C>T (p.Pro350Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.72123907A=	CA2273926515	SOX9	c.1050A= (p.Pro350=)
17	g.72123907A>C	CA501432706	SOX9	c.1050A>C (p.Pro350=)	dbSNP
17	g.72123907A>G	CA501432707	SOX9	c.1050A>G (p.Pro350=)
17	g.72123907A>T	CA501432708	SOX9	c.1050A>T (p.Pro350=)	dbSNP
17	g.72123907_72123908insAAGGCCCCG	CA986080770	SOX9	c.1050_1051insAAGGCCCCG (p.Pro350_Gln351insLysAlaPro)	dbSNP gnomAD v3 gnomAD v4
17	g.72123908C>A	CA400867613	SOX9	c.1051C>A (p.Gln351Lys)	dbSNP gnomAD v4
17	g.72123908C=	CA2273926516	SOX9	c.1051C= (p.Gln351=)
17	g.72123908C>G	CA400867614	SOX9	c.1051C>G (p.Gln351Glu)	dbSNP
17	g.72123908C>T	CA400867615	SOX9	c.1051C>T (p.Gln351Ter)	dbSNP
17	g.72123909A=	CA2273926518	SOX9	c.1052A= (p.Gln351=)
17	g.72123909A>C	CA293783599	SOX9	c.1052A>C (p.Gln351Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.72123909A>G	CA400867616	SOX9	c.1052A>G (p.Gln351Arg)	gnomAD v4
17	g.72123909A>T	CA400867617	SOX9	c.1052A>T (p.Gln351Leu)
17	g.72123909_72123918delinsAGGCCCCGCC	CA2273926517	SOX9	c.1052_1061delinsAGGCCCCGCC (p.Gln351=)
17	g.72123910G>A	CA501432709	SOX9	c.1053G>A (p.Gln351=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123910G>C	CA400867618	SOX9	c.1053G>C (p.Gln351His)	dbSNP
17	g.72123910G=	CA2273926520	SOX9	c.1053G= (p.Gln351=)
17	g.72123910G>T	CA400867619	SOX9	c.1053G>T (p.Gln351His)	gnomAD v4
17	g.72123918_72123926dup	CA2273926519	SOX9	c.1061_1069dup (p.Pro356_Gln357insProAlaPro)	ClinVar dbSNP
17	g.72123918_72123926del	CA8739081	SOX9	c.1061_1069del (p.Pro354_Pro356del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123911G>A	CA400867622	SOX9	c.1054G>A (p.Ala352Thr)	gnomAD v4
17	g.72123911G>C	CA400867621	SOX9	c.1054G>C (p.Ala352Pro)
17	g.72123911G>T	CA400867620	SOX9	c.1054G>T (p.Ala352Ser)
17	g.72123912C>A	CA400867624	SOX9	c.1055C>A (p.Ala352Asp)	gnomAD v4
17	g.72123912C=	CA2273926521	SOX9	c.1055C= (p.Ala352=)
17	g.72123912C>G	CA400867623	SOX9	c.1055C>G (p.Ala352Gly)
17	g.72123912C>T	CA400867625	SOX9	c.1055C>T (p.Ala352Val)	dbSNP gnomAD v3 gnomAD v4
17	g.72123915del	CA2639603160	SOX9	c.1058del (p.Pro353ArgfsTer30)	gnomAD v4
17	g.72123913C>A	CA501432710	SOX9	c.1056C>A (p.Ala352=)	dbSNP gnomAD v4
17	g.72123913C>G	CA501432711	SOX9	c.1056C>G (p.Ala352=)	dbSNP
17	g.72123913C>T	CA501432712	SOX9	c.1056C>T (p.Ala352=)	dbSNP gnomAD v4
17	g.72123913_72123940delinsCCCGCCGGCCCCGCAGGCGCCCCCGCAG	CA2273926522	SOX9	c.1056_1083delinsCCCGCCGGCCCCGCAGGCGCCCCCGCAG (p.Ala352=)
17	g.72123914C>A	CA400867626	SOX9	c.1057C>A (p.Pro353Thr)	dbSNP
17	g.72123914C>G	CA400867627	SOX9	c.1057C>G (p.Pro353Ala)	dbSNP
17	g.72123914C>T	CA400867628	SOX9	c.1057C>T (p.Pro353Ser)	dbSNP
17	g.72123918_72123944del	CA627589954	SOX9	c.1061_1087del (p.Pro354_Pro362del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123915C>A	CA8739082	SOX9	c.1058C>A (p.Pro353Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123915C=	CA2273926523	SOX9	c.1058C= (p.Pro353=)
17	g.72123915C>G	CA400867629	SOX9	c.1058C>G (p.Pro353Arg)	dbSNP
17	g.72123915C>T	CA400867630	SOX9	c.1058C>T (p.Pro353Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123916_72123962del	CA2695226902	SOX9	c.1059_1105del (p.Pro354AlafsTer?)
17	g.72123916G>A	CA293783609	SOX9	c.1059G>A (p.Pro353=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123916G>C	CA501432714	SOX9	c.1059G>C (p.Pro353=)	dbSNP
17	g.72123916G=	CA2273926524	SOX9	c.1059G= (p.Pro353=)
17	g.72123916G>T	CA501432713	SOX9	c.1059G>T (p.Pro353=)	dbSNP gnomAD v4
17	g.72123917C>A	CA400867631	SOX9	c.1060C>A (p.Pro354Thr)	gnomAD v4
17	g.72123917C>G	CA400867632	SOX9	c.1060C>G (p.Pro354Ala)
17	g.72123917C>T	CA400867633	SOX9	c.1060C>T (p.Pro354Ser)	ClinVar gnomAD v4
17	g.72123918C>A	CA400867634	SOX9	c.1061C>A (p.Pro354Gln)	dbSNP gnomAD v4
17	g.72123918C=	CA2273926526	SOX9	c.1061C= (p.Pro354=)
17	g.72123918C>G	CA400867635	SOX9	c.1061C>G (p.Pro354Arg)	dbSNP
17	g.72123918C>T	CA400867636	SOX9	c.1061C>T (p.Pro354Leu)	dbSNP gnomAD v4
17	g.72123918_72123927delinsCGGCCCCGCA	CA2273926525	SOX9	c.1061_1070delinsCGGCCCCGCA (p.Pro354=)
17	g.72123919G>A	CA293783614	SOX9	c.1062G>A (p.Pro354=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123919G>C	CA293783633	SOX9	c.1062G>C (p.Pro354=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123919G=	CA2273926527	SOX9	c.1062G= (p.Pro354=)
17	g.72123919G>T	CA501432715	SOX9	c.1062G>T (p.Pro354=)	dbSNP gnomAD v4
17	g.72123922_72123930del	CA293783612	SOX9	c.1065_1073del (p.Pro356_Ala358del)	dbSNP gnomAD v3 gnomAD v4
17	g.72123920G>A	CA400867639	SOX9	c.1063G>A (p.Ala355Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123920G>C	CA400867638	SOX9	c.1063G>C (p.Ala355Pro)
17	g.72123920G=	CA2273926528	SOX9	c.1063G= (p.Ala355=)
17	g.72123920G>T	CA400867637	SOX9	c.1063G>T (p.Ala355Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.72123921C>A	CA400867640	SOX9	c.1064C>A (p.Ala355Asp)	gnomAD v4
17	g.72123921C=	CA2273926530	SOX9	c.1064C= (p.Ala355=)
17	g.72123921C>G	CA400867641	SOX9	c.1064C>G (p.Ala355Gly)	dbSNP
17	g.72123921C>T	CA400867642	SOX9	c.1064C>T (p.Ala355Val)	dbSNP gnomAD v2 gnomAD v4
17	g.72123921_72123939delinsCCCCGCAGGCGCCCCCGCA	CA2273926529	SOX9	c.1064_1082delinsCCCCGCAGGCGCCCCCGCA (p.Ala355=)
17	g.72123929_72123940dup	CA627589959	SOX9	c.1072_1083dup (p.Gln361_Pro362insAlaProProGln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123929_72123940del	CA2580095098	SOX9	c.1072_1083del (p.Ala358_Gln361del)	ClinVar
17	g.72123929_72123982del	CA2810344963	SOX9	c.1072_1125del (p.Ala358_Gln375del)
17	g.72123922C>A	CA501432716	SOX9	c.1065C>A (p.Ala355=)
17	g.72123922C>G	CA501432717	SOX9	c.1065C>G (p.Ala355=)
17	g.72123922C>T	CA501432718	SOX9	c.1065C>T (p.Ala355=)	gnomAD v4
17	g.72123922_72123927del	CA2576374516	SOX9	c.1065_1070del (p.Pro356_Gln357del)
17	g.72123922_72123939del	CA8739083	SOX9	c.1065_1082del (p.Pro356_Gln361del)	ClinVar dbSNP ExAC
17	g.72123923C>A	CA400867643	SOX9	c.1066C>A (p.Pro356Thr)
17	g.72123923C>G	CA400867644	SOX9	c.1066C>G (p.Pro356Ala)
17	g.72123923C>T	CA400867645	SOX9	c.1066C>T (p.Pro356Ser)
17	g.72123925_72123933del	CA2639603161	SOX9	c.1068_1076del (p.Gln357_Pro359del)	gnomAD v4
17	g.72123932_72123949del	CA2639603162	SOX9	c.1075_1092del (p.Pro359_Ala364del)	gnomAD v4
17	g.72123924C>A	CA400867646	SOX9	c.1067C>A (p.Pro356Gln)	dbSNP gnomAD v3 gnomAD v4
17	g.72123924C=	CA2273926531	SOX9	c.1067C= (p.Pro356=)
17	g.72123924C>G	CA8739084	SOX9	c.1067C>G (p.Pro356Arg)	dbSNP ExAC gnomAD v4
17	g.72123924C>T	CA400867647	SOX9	c.1067C>T (p.Pro356Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123925G>A	CA501432719	SOX9	c.1068G>A (p.Pro356=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123925G>C	CA501432720	SOX9	c.1068G>C (p.Pro356=)
17	g.72123925G=	CA2273926532	SOX9	c.1068G= (p.Pro356=)
17	g.72123925G>T	CA501432721	SOX9	c.1068G>T (p.Pro356=)	dbSNP gnomAD v4
17	g.72123927_72123969del	CA2695226903	SOX9	c.1070_1112del (p.Gln357ArgfsTer12)
17	g.72123926C>A	CA400867648	SOX9	c.1069C>A (p.Gln357Lys)	gnomAD v4
17	g.72123926C>G	CA400867649	SOX9	c.1069C>G (p.Gln357Glu)
17	g.72123926C>T	CA400867650	SOX9	c.1069C>T (p.Gln357Ter)	dbSNP gnomAD v4
17	g.72123927A=	CA2273926534	SOX9	c.1070A= (p.Gln357=)
17	g.72123927A>C	CA400867651	SOX9	c.1070A>C (p.Gln357Pro)	dbSNP
17	g.72123927A>G	CA400867652	SOX9	c.1070A>G (p.Gln357Arg)	dbSNP gnomAD v4
17	g.72123927A>T	CA293783652	SOX9	c.1070A>T (p.Gln357Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.72123927_72123948delinsAGGCGCCCCCGCAGCCGCAGGC	CA2273926533	SOX9	c.1070_1091delinsAGGCGCCCCCGCAGCCGCAGGC (p.Gln357=)
17	g.72123928G>A	CA501432722	SOX9	c.1071G>A (p.Gln357=)	dbSNP gnomAD v4
17	g.72123928G>C	CA400867653	SOX9	c.1071G>C (p.Gln357His)	dbSNP
17	g.72123928G>T	CA400867654	SOX9	c.1071G>T (p.Gln357His)	dbSNP gnomAD v4
17	g.72123937_72123957dup	CA627589963	SOX9	c.1080_1100dup (p.Pro367_Gln368insGlnProGlnAlaAlaProPro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123937_72123957del	CA8739085	SOX9	c.1080_1100del (p.Gln361_Pro367del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123931_72123972del	CA2639603163	SOX9	c.1074_1115del (p.Pro359_Ala372del)	gnomAD v4
17	g.72123929G>A	CA400867655	SOX9	c.1072G>A (p.Ala358Thr)	gnomAD v4
17	g.72123929G>C	CA400867656	SOX9	c.1072G>C (p.Ala358Pro)
17	g.72123929G>T	CA400867657	SOX9	c.1072G>T (p.Ala358Ser)	gnomAD v4
17	g.72123929_72123935delinsGCGCCCC	CA2273926536	SOX9	c.1072_1078delinsGCGCCCC (p.Ala358=)
17	g.72123929_72123941delinsGCGCCCCCGCAGC	CA2273926535	SOX9	c.1072_1084delinsGCGCCCCCGCAGC (p.Ala358=)
17	g.72123929_72123930insGC	CA645598932	SOX9	c.1072_1073insGC (p.Ala358GlyfsTer26)	COSMIC
17	g.72123930C>A	CA8739086	SOX9	c.1073C>A (p.Ala358Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123930C=	CA2273926537	SOX9	c.1073C= (p.Ala358=)
17	g.72123930C>G	CA400867658	SOX9	c.1073C>G (p.Ala358Gly)	dbSNP
17	g.72123930C>T	CA400867659	SOX9	c.1073C>T (p.Ala358Val)	dbSNP gnomAD v4
17	g.72123933_72123938del	CA2273926538	SOX9	c.1076_1081del (p.Pro359_Pro360del)	dbSNP
17	g.72123933_72123944del	CA627589964	SOX9	c.1076_1087del (p.Pro359_Pro362del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123931G>A	CA501432723	SOX9	c.1074G>A (p.Ala358=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123931G>C	CA293783666	SOX9	c.1074G>C (p.Ala358=)	dbSNP gnomAD v4
17	g.72123931G=	CA2273926539	SOX9	c.1074G= (p.Ala358=)
17	g.72123931G>T	CA8739087	SOX9	c.1074G>T (p.Ala358=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123931_72123932insGCCCCGCAGGCC	CA2810344965	SOX9	c.1074_1075insGCCCCGCAGGCC (p.Ala358_Pro359insAlaProGlnAla)
17	g.72123932C>A	CA400867660	SOX9	c.1075C>A (p.Pro359Thr)	gnomAD v4
17	g.72123932C=	CA2273926540	SOX9	c.1075C= (p.Pro359=)
17	g.72123932C>G	CA400867661	SOX9	c.1075C>G (p.Pro359Ala)	dbSNP gnomAD v4
17	g.72123932C>T	CA400867662	SOX9	c.1075C>T (p.Pro359Ser)	dbSNP gnomAD v4
17	g.72123936dup	CA2810344964	SOX9	c.1079dup (p.Gln361AlafsTer?)
17	g.72123936del	CA645598933	SOX9	c.1079del (p.Pro360ArgfsTer23)	gnomAD v4 COSMIC
17	g.72123933C>A	CA400867663	SOX9	c.1076C>A (p.Pro359His)	ClinVar dbSNP gnomAD v4
17	g.72123933C=	CA2273926541	SOX9	c.1076C= (p.Pro359=)
17	g.72123933C>G	CA400867665	SOX9	c.1076C>G (p.Pro359Arg)
17	g.72123933C>T	CA400867664	SOX9	c.1076C>T (p.Pro359Leu)	gnomAD v4
17	g.72123934C>A	CA501432724	SOX9	c.1077C>A (p.Pro359=)	gnomAD v4
17	g.72123934C>G	CA501432726	SOX9	c.1077C>G (p.Pro359=)
17	g.72123934C>T	CA501432725	SOX9	c.1077C>T (p.Pro359=)
17	g.72123934_72123952delinsCCCGCAGCCGCAGGCGGCG	CA2273926542	SOX9	c.1077_1095delinsCCCGCAGCCGCAGGCGGCG (p.Pro359=)
17	g.72123935C>A	CA400867666	SOX9	c.1078C>A (p.Pro360Thr)	dbSNP gnomAD v4
17	g.72123935C=	CA2273926543	SOX9	c.1078C= (p.Pro360=)
17	g.72123935C>G	CA400867667	SOX9	c.1078C>G (p.Pro360Ala)
17	g.72123935C>T	CA400867668	SOX9	c.1078C>T (p.Pro360Ser)	dbSNP gnomAD v4
17	g.72123937_72123954del	CA8739088	SOX9	c.1080_1097del (p.Gln361_Pro366del)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123936C>A	CA400867669	SOX9	c.1079C>A (p.Pro360Gln)	gnomAD v4
17	g.72123936C=	CA2273926545	SOX9	c.1079C= (p.Pro360=)
17	g.72123936C>G	CA400867670	SOX9	c.1079C>G (p.Pro360Arg)	dbSNP
17	g.72123936C>T	CA400867671	SOX9	c.1079C>T (p.Pro360Leu)	dbSNP gnomAD v4
17	g.72123936_72123960delinsCGCAGCCGCAGGCGGCGCCCCCACA	CA2273926544	SOX9	c.1079_1103delinsCGCAGCCGCAGGCGGCGCCCCCACA (p.Pro360=)
17	g.72123937G>A	CA501432727	SOX9	c.1080G>A (p.Pro360=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123937G>C	CA501432728	SOX9	c.1080G>C (p.Pro360=)	dbSNP gnomAD v4
17	g.72123937G=	CA2273926546	SOX9	c.1080G= (p.Pro360=)
17	g.72123937G>T	CA501432729	SOX9	c.1080G>T (p.Pro360=)	dbSNP gnomAD v4
17	g.72123944_72123967dup	CA2639603165	SOX9	c.1087_1110dup (p.Pro370_Ala371insGlnAlaAlaProProGlnGlnPro)	gnomAD v4
17	g.72123944_72123967del	CA774801397	SOX9	c.1087_1110del (p.Gln363_Pro370del)	dbSNP gnomAD v3 gnomAD v4
17	g.72123938C>A	CA400867672	SOX9	c.1081C>A (p.Gln361Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123938C=	CA2273926547	SOX9	c.1081C= (p.Gln361=)
17	g.72123938C>G	CA400867673	SOX9	c.1081C>G (p.Gln361Glu)
17	g.72123938C>T	CA400867674	SOX9	c.1081C>T (p.Gln361Ter)	ClinVar dbSNP gnomAD v4
17	g.72123942_72123962del	CA2639603167	SOX9	c.1085_1105del (p.Pro362_Gln368del)	gnomAD v4
17	g.72123939A>C	CA400867677	SOX9	c.1082A>C (p.Gln361Pro)	dbSNP
17	g.72123939A>G	CA400867678	SOX9	c.1082A>G (p.Gln361Arg)	dbSNP gnomAD v4
17	g.72123939A>T	CA400867676	SOX9	c.1082A>T (p.Gln361Leu)
17	g.72123940G>A	CA501432730	SOX9	c.1083G>A (p.Gln361=)	dbSNP gnomAD v4
17	g.72123940G>C	CA400867680	SOX9	c.1083G>C (p.Gln361His)	dbSNP
17	g.72123940G>T	CA400867679	SOX9	c.1083G>T (p.Gln361His)	gnomAD v4
17	g.72123940_72123941insGCC	CA2576374517	SOX9	c.1083_1084insGCC (p.Gln361_Pro362insAla)
17	g.72123941C>A	CA400867681	SOX9	c.1084C>A (p.Pro362Thr)	gnomAD v4
17	g.72123941C=	CA2273926548	SOX9	c.1084C= (p.Pro362=)
17	g.72123941C>G	CA400867682	SOX9	c.1084C>G (p.Pro362Ala)	gnomAD v4
17	g.72123941C>T	CA400867683	SOX9	c.1084C>T (p.Pro362Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.72123941_72123947delinsCCGCAGG	CA2273926549	SOX9	c.1084_1090delinsCCGCAGG (p.Pro362=)
17	g.72123942C>A	CA400867684	SOX9	c.1085C>A (p.Pro362Gln)	dbSNP gnomAD v4
17	g.72123942C=	CA2273926550	SOX9	c.1085C= (p.Pro362=)
17	g.72123942C>G	CA400867685	SOX9	c.1085C>G (p.Pro362Arg)	gnomAD v4
17	g.72123942C>T	CA400867686	SOX9	c.1085C>T (p.Pro362Leu)	dbSNP gnomAD v4
17	g.72123943_72123944del	CA2810344966	SOX9	c.1086_1087del (p.Gln363GlyfsTer?)
17	g.72123944_72123949del	CA986080816	SOX9	c.1087_1092del (p.Gln363_Ala364del)	dbSNP gnomAD v3 gnomAD v4
17	g.72123943G>A	CA501432731	SOX9	c.1086G>A (p.Pro362=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123943G>C	CA501432732	SOX9	c.1086G>C (p.Pro362=)	dbSNP gnomAD v4
17	g.72123943G=	CA2273926551	SOX9	c.1086G= (p.Pro362=)
17	g.72123943G>T	CA501432733	SOX9	c.1086G>T (p.Pro362=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123945_72123965del	CA2639603168	SOX9	c.1088_1108del (p.Gln363_Gln369del)	gnomAD v4
17	g.72123944C>A	CA400867687	SOX9	c.1087C>A (p.Gln363Lys)	gnomAD v4
17	g.72123944C>G	CA400867688	SOX9	c.1087C>G (p.Gln363Glu)
17	g.72123944C>T	CA400867689	SOX9	c.1087C>T (p.Gln363Ter)	gnomAD v4
17	g.72123950_72123994del	CA2639603169	SOX9	c.1093_1137del (p.Ala365_Ala379del)	gnomAD v4
17	g.72123945A=	CA2273926553	SOX9	c.1088A= (p.Gln363=)
17	g.72123945A>C	CA400867690	SOX9	c.1088A>C (p.Gln363Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123945A>G	CA400867691	SOX9	c.1088A>G (p.Gln363Arg)	dbSNP gnomAD v4
17	g.72123945A>T	CA400867692	SOX9	c.1088A>T (p.Gln363Leu)	dbSNP gnomAD v4
17	g.72123945_72123966delinsAGGCGGCGCCCCCACAGCAGCC	CA2273926552	SOX9	c.1088_1109delinsAGGCGGCGCCCCCACAGCAGCC (p.Gln363=)
17	g.72123946G>A	CA501432734	SOX9	c.1089G>A (p.Gln363=)	dbSNP
17	g.72123946G>C	CA400867694	SOX9	c.1089G>C (p.Gln363His)	dbSNP
17	g.72123946G>T	CA400867693	SOX9	c.1089G>T (p.Gln363His)	dbSNP gnomAD v4
17	g.72123952_72123972dup	CA2639603170	SOX9	c.1095_1115dup (p.Ala372_Pro373insProProGlnGlnProAlaAla)	gnomAD v4
17	g.72123952_72123972del	CA8739089	SOX9	c.1095_1115del (p.Pro366_Ala372del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123947G>A	CA8739090	SOX9	c.1090G>A (p.Ala364Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.72123947G>C	CA293783691	SOX9	c.1090G>C (p.Ala364Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123947G=	CA2273926554	SOX9	c.1090G= (p.Ala364=)
17	g.72123947G>T	CA400867695	SOX9	c.1090G>T (p.Ala364Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123948C>A	CA293783697	SOX9	c.1091C>A (p.Ala364Glu)	dbSNP gnomAD v4
17	g.72123948C=	CA2273926555	SOX9	c.1091C= (p.Ala364=)
17	g.72123948C>G	CA400867696	SOX9	c.1091C>G (p.Ala364Gly)	gnomAD v4
17	g.72123948C>T	CA8739091	SOX9	c.1091C>T (p.Ala364Val)	dbSNP ExAC gnomAD v3 gnomAD v4
17	g.72123949G>A	CA8739092	SOX9	c.1092G>A (p.Ala364=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123949G>C	CA501432735	SOX9	c.1092G>C (p.Ala364=)	dbSNP
17	g.72123949G=	CA2273926556	SOX9	c.1092G= (p.Ala364=)
17	g.72123949G>T	CA501432736	SOX9	c.1092G>T (p.Ala364=)	dbSNP gnomAD v4
17	g.72123950G>A	CA400867697	SOX9	c.1093G>A (p.Ala365Thr)	dbSNP gnomAD v4
17	g.72123950G>C	CA400867698	SOX9	c.1093G>C (p.Ala365Pro)	dbSNP
17	g.72123950G=	CA2273926557	SOX9	c.1093G= (p.Ala365=)
17	g.72123950G>T	CA293783716	SOX9	c.1093G>T (p.Ala365Ser)	dbSNP
17	g.72123951C>A	CA400867699	SOX9	c.1094C>A (p.Ala365Glu)	dbSNP gnomAD v4
17	g.72123951C=	CA2273926558	SOX9	c.1094C= (p.Ala365=)
17	g.72123951C>G	CA400867700	SOX9	c.1094C>G (p.Ala365Gly)	dbSNP gnomAD v4
17	g.72123951C>T	CA400867701	SOX9	c.1094C>T (p.Ala365Val)	dbSNP gnomAD v4
17	g.72123952del	CA2639603173	SOX9	c.1095del (p.Pro367HisfsTer16)	gnomAD v4
17	g.72123952G>A	CA8739094	SOX9	c.1095G>A (p.Ala365=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123952G>C	CA501432737	SOX9	c.1095G>C (p.Ala365=)	gnomAD v4
17	g.72123952G=	CA2273926560	SOX9	c.1095G= (p.Ala365=)
17	g.72123952G>T	CA501432738	SOX9	c.1095G>T (p.Ala365=)	gnomAD v4
17	g.72123952delinsAT	CA2695226904	SOX9	c.1095delinsAT (p.Pro366SerfsTer?)
17	g.72123952_72123973delinsGCCCCCACAGCAGCCGGCGGCA	CA2273926559	SOX9	c.1095_1116delinsGCCCCCACAGCAGCCGGCGGCA (p.Ala365=)
17	g.72123953C>A	CA400867703	SOX9	c.1096C>A (p.Pro366Thr)	dbSNP gnomAD v4
17	g.72123953C=	CA2273926561	SOX9	c.1096C= (p.Pro366=)
17	g.72123953C>G	CA400867702	SOX9	c.1096C>G (p.Pro366Ala)	dbSNP
17	g.72123953C>T	CA8739095	SOX9	c.1096C>T (p.Pro366Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123957dup	CA658798969	SOX9	c.1100dup (p.Gln368ThrfsTer?)	ClinVar dbSNP gnomAD v4
17	g.72123957del	CA501432739	SOX9	c.1100del (p.Pro367HisfsTer16)	dbSNP gnomAD v4 COSMIC
17	g.72123958_72123978dup	CA2639603181	SOX9	c.1101_1121dup (p.Pro374_Gln375insGlnGlnProAlaAlaProPro)	gnomAD v4
17	g.72123958_72123978del	CA8739093	SOX9	c.1101_1121del (p.Gln368_Pro374del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123954C>A	CA400867704	SOX9	c.1097C>A (p.Pro366His)	dbSNP gnomAD v3 gnomAD v4
17	g.72123954C=	CA2273926562	SOX9	c.1097C= (p.Pro366=)
17	g.72123954C>G	CA400867705	SOX9	c.1097C>G (p.Pro366Arg)
17	g.72123954C>T	CA400867706	SOX9	c.1097C>T (p.Pro366Leu)	dbSNP gnomAD v4
17	g.72123955C>A	CA501432741	SOX9	c.1098C>A (p.Pro366=)	gnomAD v4
17	g.72123955C=	CA2273926563	SOX9	c.1098C= (p.Pro366=)
17	g.72123955C>G	CA501432742	SOX9	c.1098C>G (p.Pro366=)	dbSNP
17	g.72123955C>T	CA501432740	SOX9	c.1098C>T (p.Pro366=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123955_72123957delinsCCC	CA2273926564	SOX9	c.1098_1100delinsCCC (p.Pro366=)
17	g.72123956C>A	CA400867707	SOX9	c.1099C>A (p.Pro367Thr)	dbSNP gnomAD v4 COSMIC
17	g.72123956C=	CA2273926565	SOX9	c.1099C= (p.Pro367=)
17	g.72123956C>G	CA8739096	SOX9	c.1099C>G (p.Pro367Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123956C>T	CA400867708	SOX9	c.1099C>T (p.Pro367Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123956_72123957delinsG	CA658653846	SOX9	c.1099_1100delinsG (p.Pro367AspfsTer16)	ClinVar dbSNP
17	g.72123957C>A	CA400867709	SOX9	c.1100C>A (p.Pro367Gln)	dbSNP gnomAD v4
17	g.72123957C=	CA2273926566	SOX9	c.1100C= (p.Pro367=)
17	g.72123957C>G	CA400867710	SOX9	c.1100C>G (p.Pro367Arg)	ClinVar gnomAD v4
17	g.72123957C>T	CA400867711	SOX9	c.1100C>T (p.Pro367Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.72123958A=	CA2273926567	SOX9	c.1101A= (p.Pro367=)
17	g.72123958A>C	CA501432745	SOX9	c.1101A>C (p.Pro367=)	gnomAD v4
17	g.72123958A>G	CA501432743	SOX9	c.1101A>G (p.Pro367=)	dbSNP gnomAD v4
17	g.72123958A>T	CA501432744	SOX9	c.1101A>T (p.Pro367=)
17	g.72123958_72123979delinsACAGCAGCCGGCGGCACCCCCG	CA2273926568	SOX9	c.1101_1122delinsACAGCAGCCGGCGGCACCCCCG (p.Pro367=)
17	g.72123959C>A	CA400867714	SOX9	c.1102C>A (p.Gln368Lys)	gnomAD v4
17	g.72123959C=	CA2273926569	SOX9	c.1102C= (p.Gln368=)
17	g.72123959C>G	CA400867712	SOX9	c.1102C>G (p.Gln368Glu)	gnomAD v4
17	g.72123959C>T	CA400867713	SOX9	c.1102C>T (p.Gln368Ter)	gnomAD v4
17	g.72123967_72123987del	CA627589967	SOX9	c.1110_1130del (p.Ala371_Pro377del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123960A>C	CA400867715	SOX9	c.1103A>C (p.Gln368Pro)	dbSNP
17	g.72123960A>G	CA400867716	SOX9	c.1103A>G (p.Gln368Arg)	dbSNP gnomAD v4
17	g.72123960A>T	CA400867717	SOX9	c.1103A>T (p.Gln368Leu)	dbSNP
17	g.72123960dup	CA913185038	SOX9	c.1103dup (p.Gln369AlafsTer?)	ClinVar dbSNP

Number of alleles fetched