Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72123996_72124005delinsACACGCTGAC	CA2273926589	SOX9	c.1139_1148delinsACACGCTGAC (p.His380=)
17	g.72124005_72124013dup	CA627589915	SOX9	c.1148_1156dup (p.Leu385_Ser386insThrThrLeu)	dbSNP gnomAD v2 gnomAD v4
17	g.72124005_72124013del	CA2273926591	SOX9	c.1148_1156del (p.Thr383_Leu385del)	ClinVar dbSNP gnomAD v4
17	g.72123998A>C	CA400867793	SOX9	c.1141A>C (p.Thr381Pro)	dbSNP
17	g.72123998A>G	CA400867794	SOX9	c.1141A>G (p.Thr381Ala)
17	g.72123998A>T	CA400867795	SOX9	c.1141A>T (p.Thr381Ser)	dbSNP
17	g.72123999C>A	CA400867796	SOX9	c.1142C>A (p.Thr381Lys)	gnomAD v4
17	g.72123999C>G	CA400867798	SOX9	c.1142C>G (p.Thr381Arg)
17	g.72123999C>T	CA400867797	SOX9	c.1142C>T (p.Thr381Met)	gnomAD v4
17	g.72124000G>A	CA8739110	SOX9	c.1143G>A (p.Thr381=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124000G>C	CA501432840	SOX9	c.1143G>C (p.Thr381=)	dbSNP
17	g.72124000G=	CA2273926593	SOX9	c.1143G= (p.Thr381=)
17	g.72124000G>T	CA8739109	SOX9	c.1143G>T (p.Thr381=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124001C>A	CA400867799	SOX9	c.1144C>A (p.Leu382Met)	dbSNP gnomAD v4
17	g.72124001C=	CA2273926594	SOX9	c.1144C= (p.Leu382=)
17	g.72124001C>G	CA400867800	SOX9	c.1144C>G (p.Leu382Val)	dbSNP
17	g.72124001C>T	CA293783840	SOX9	c.1144C>T (p.Leu382=)	dbSNP gnomAD v4
17	g.72124002T>A	CA400867801	SOX9	c.1145T>A (p.Leu382Gln)	dbSNP
17	g.72124002T>C	CA400867802	SOX9	c.1145T>C (p.Leu382Pro)	dbSNP
17	g.72124002T>G	CA400867803	SOX9	c.1145T>G (p.Leu382Arg)
17	g.72124003G>A	CA501432841	SOX9	c.1146G>A (p.Leu382=)	dbSNP
17	g.72124003G>C	CA501432842	SOX9	c.1146G>C (p.Leu382=)	dbSNP
17	g.72124003G=	CA2273926595	SOX9	c.1146G= (p.Leu382=)
17	g.72124003G>T	CA8739111	SOX9	c.1146G>T (p.Leu382=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124004A>C	CA400867804	SOX9	c.1147A>C (p.Thr383Pro)
17	g.72124004A>G	CA400867805	SOX9	c.1147A>G (p.Thr383Ala)
17	g.72124004A>T	CA400867806	SOX9	c.1147A>T (p.Thr383Ser)
17	g.72124005C>A	CA400867807	SOX9	c.1148C>A (p.Thr383Asn)	gnomAD v4
17	g.72124005C>G	CA400867809	SOX9	c.1148C>G (p.Thr383Ser)	dbSNP
17	g.72124005C>T	CA400867808	SOX9	c.1148C>T (p.Thr383Ile)	dbSNP
17	g.72124006C>A	CA501432843	SOX9	c.1149C>A (p.Thr383=)	dbSNP gnomAD v4
17	g.72124006C>G	CA501432845	SOX9	c.1149C>G (p.Thr383=)	dbSNP
17	g.72124006C>T	CA501432844	SOX9	c.1149C>T (p.Thr383=)	dbSNP gnomAD v4
17	g.72124007A>C	CA400867810	SOX9	c.1150A>C (p.Thr384Pro)	dbSNP
17	g.72124007A>G	CA400867811	SOX9	c.1150A>G (p.Thr384Ala)	dbSNP
17	g.72124007A>T	CA400867812	SOX9	c.1150A>T (p.Thr384Ser)	dbSNP gnomAD v4
17	g.72124008C>A	CA400867813	SOX9	c.1151C>A (p.Thr384Lys)	dbSNP gnomAD v4
17	g.72124008C=	CA2273926596	SOX9	c.1151C= (p.Thr384=)
17	g.72124008C>G	CA400867814	SOX9	c.1151C>G (p.Thr384Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.72124008C>T	CA400867815	SOX9	c.1151C>T (p.Thr384Met)	dbSNP gnomAD v4
17	g.72124009G>A	CA501432846	SOX9	c.1152G>A (p.Thr384=)	dbSNP gnomAD v4
17	g.72124009G>C	CA501432847	SOX9	c.1152G>C (p.Thr384=)	dbSNP
17	g.72124009G>T	CA501432848	SOX9	c.1152G>T (p.Thr384=)	dbSNP gnomAD v4
17	g.72124010C>A	CA400867817	SOX9	c.1153C>A (p.Leu385Met)	dbSNP gnomAD v4
17	g.72124010C>G	CA400867816	SOX9	c.1153C>G (p.Leu385Val)	dbSNP
17	g.72124010C>T	CA501432849	SOX9	c.1153C>T (p.Leu385=)	dbSNP
17	g.72124011T>A	CA400867818	SOX9	c.1154T>A (p.Leu385Gln)	dbSNP
17	g.72124011T>C	CA400867819	SOX9	c.1154T>C (p.Leu385Pro)	dbSNP
17	g.72124011T>G	CA8739112	SOX9	c.1154T>G (p.Leu385Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124011T=	CA2273926597	SOX9	c.1154T= (p.Leu385=)
17	g.72124012G>A	CA501432850	SOX9	c.1155G>A (p.Leu385=)	dbSNP gnomAD v2 gnomAD v4
17	g.72124012G>C	CA501432851	SOX9	c.1155G>C (p.Leu385=)	dbSNP
17	g.72124012G=	CA2273926598	SOX9	c.1155G= (p.Leu385=)
17	g.72124012G>T	CA501432852	SOX9	c.1155G>T (p.Leu385=)
17	g.72124013A=	CA2273926600	SOX9	c.1156A= (p.Ser386=)
17	g.72124013A>C	CA400867820	SOX9	c.1156A>C (p.Ser386Arg)
17	g.72124013A>G	CA400867821	SOX9	c.1156A>G (p.Ser386Gly)	dbSNP
17	g.72124013A>T	CA400867822	SOX9	c.1156A>T (p.Ser386Cys)	dbSNP
17	g.72124016_72124018dup	CA2273926599	SOX9	c.1159_1161dup (p.Ser387_Glu388insSer)	dbSNP
17	g.72124014G>A	CA400867823	SOX9	c.1157G>A (p.Ser386Asn)	dbSNP
17	g.72124014G>C	CA400867825	SOX9	c.1157G>C (p.Ser386Thr)	dbSNP
17	g.72124014G>T	CA400867824	SOX9	c.1157G>T (p.Ser386Ile)
17	g.72124015C>A	CA400867826	SOX9	c.1158C>A (p.Ser386Arg)	gnomAD v4
17	g.72124015C=	CA2273926601	SOX9	c.1158C= (p.Ser386=)
17	g.72124015C>G	CA400867827	SOX9	c.1158C>G (p.Ser386Arg)	dbSNP
17	g.72124015C>T	CA501432853	SOX9	c.1158C>T (p.Ser386=)	dbSNP gnomAD v3 gnomAD v4
17	g.72124016A>C	CA400867828	SOX9	c.1159A>C (p.Ser387Arg)
17	g.72124016A>G	CA400867829	SOX9	c.1159A>G (p.Ser387Gly)	dbSNP
17	g.72124016A>T	CA400867830	SOX9	c.1159A>T (p.Ser387Cys)	dbSNP
17	g.72124017G>A	CA400867831	SOX9	c.1160G>A (p.Ser387Asn)	dbSNP gnomAD v4
17	g.72124017G>C	CA400867832	SOX9	c.1160G>C (p.Ser387Thr)	dbSNP
17	g.72124017G>T	CA400867833	SOX9	c.1160G>T (p.Ser387Ile)
17	g.72124018C>A	CA400867834	SOX9	c.1161C>A (p.Ser387Arg)	dbSNP gnomAD v4
17	g.72124018C=	CA2273926602	SOX9	c.1161C= (p.Ser387=)
17	g.72124018C>G	CA400867835	SOX9	c.1161C>G (p.Ser387Arg)	dbSNP
17	g.72124018C>T	CA501432854	SOX9	c.1161C>T (p.Ser387=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124019G>A	CA8739113	SOX9	c.1162G>A (p.Glu388Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124019G>C	CA400867837	SOX9	c.1162G>C (p.Glu388Gln)	dbSNP
17	g.72124019G=	CA2273926603	SOX9	c.1162G= (p.Glu388=)
17	g.72124019G>T	CA400867836	SOX9	c.1162G>T (p.Glu388Ter)
17	g.72124020A>C	CA400867838	SOX9	c.1163A>C (p.Glu388Ala)	dbSNP
17	g.72124020A>G	CA400867840	SOX9	c.1163A>G (p.Glu388Gly)	dbSNP
17	g.72124020A>T	CA400867839	SOX9	c.1163A>T (p.Glu388Val)	dbSNP
17	g.72124021G>A	CA501432855	SOX9	c.1164G>A (p.Glu388=)	dbSNP
17	g.72124021G>C	CA400867841	SOX9	c.1164G>C (p.Glu388Asp)	dbSNP gnomAD v4
17	g.72124021G=	CA2273926604	SOX9	c.1164G= (p.Glu388=)
17	g.72124021G>T	CA400867842	SOX9	c.1164G>T (p.Glu388Asp)	gnomAD v4
17	g.72124022C>A	CA8739114	SOX9	c.1165C>A (p.Pro389Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124022C=	CA2273926605	SOX9	c.1165C= (p.Pro389=)
17	g.72124022C>G	CA400867843	SOX9	c.1165C>G (p.Pro389Ala)	dbSNP
17	g.72124022C>T	CA400867844	SOX9	c.1165C>T (p.Pro389Ser)	dbSNP gnomAD v4
17	g.72124023C>A	CA400867845	SOX9	c.1166C>A (p.Pro389Gln)	gnomAD v4
17	g.72124023C>G	CA400867846	SOX9	c.1166C>G (p.Pro389Arg)	dbSNP gnomAD v4
17	g.72124023C>T	CA400867847	SOX9	c.1166C>T (p.Pro389Leu)	gnomAD v4
17	g.72124024G>A	CA8739115	SOX9	c.1167G>A (p.Pro389=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124024G>C	CA501432856	SOX9	c.1167G>C (p.Pro389=)	dbSNP
17	g.72124024G=	CA2273926606	SOX9	c.1167G= (p.Pro389=)
17	g.72124024G>T	CA501432857	SOX9	c.1167G>T (p.Pro389=)	dbSNP
17	g.72124025G>A	CA8739116	SOX9	c.1168G>A (p.Gly390Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124025G>C	CA400867848	SOX9	c.1168G>C (p.Gly390Arg)	dbSNP
17	g.72124025G=	CA2273926607	SOX9	c.1168G= (p.Gly390=)
17	g.72124025G>T	CA400867849	SOX9	c.1168G>T (p.Gly390Cys)	dbSNP
17	g.72124026G>A	CA400867851	SOX9	c.1169G>A (p.Gly390Asp)	gnomAD v4
17	g.72124026G>C	CA8739117	SOX9	c.1169G>C (p.Gly390Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124026G=	CA2273926608	SOX9	c.1169G= (p.Gly390=)
17	g.72124026G>T	CA400867850	SOX9	c.1169G>T (p.Gly390Val)	gnomAD v4
17	g.72124027C>A	CA8739118	SOX9	c.1170C>A (p.Gly390=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124027C=	CA2273926609	SOX9	c.1170C= (p.Gly390=)
17	g.72124027C>G	CA501432858	SOX9	c.1170C>G (p.Gly390=)	dbSNP
17	g.72124027C>T	CA501432859	SOX9	c.1170C>T (p.Gly390=)	dbSNP gnomAD v2 gnomAD v4
17	g.72124028del	CA2734006131	SOX9	c.1171del (p.Gln391SerfsTer12)	dbSNP
17	g.72124028C>A	CA400867852	SOX9	c.1171C>A (p.Gln391Lys)	dbSNP gnomAD v4
17	g.72124028C>G	CA400867853	SOX9	c.1171C>G (p.Gln391Glu)	dbSNP
17	g.72124028C>T	CA400867854	SOX9	c.1171C>T (p.Gln391Ter)	dbSNP
17	g.72124029A=	CA2273926610	SOX9	c.1172A= (p.Gln391=)
17	g.72124029A>C	CA400867855	SOX9	c.1172A>C (p.Gln391Pro)	dbSNP gnomAD v4
17	g.72124029A>G	CA400867856	SOX9	c.1172A>G (p.Gln391Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.72124029A>T	CA400867857	SOX9	c.1172A>T (p.Gln391Leu)	dbSNP
17	g.72124030G>A	CA501432860	SOX9	c.1173G>A (p.Gln391=)	dbSNP gnomAD v4
17	g.72124030G>C	CA400867858	SOX9	c.1173G>C (p.Gln391His)	dbSNP
17	g.72124030G>T	CA400867859	SOX9	c.1173G>T (p.Gln391His)
17	g.72124031T>A	CA400867860	SOX9	c.1174T>A (p.Ser392Thr)
17	g.72124031T>C	CA400867861	SOX9	c.1174T>C (p.Ser392Pro)	gnomAD v4
17	g.72124031T>G	CA400867862	SOX9	c.1174T>G (p.Ser392Ala)
17	g.72124032C>A	CA400867864	SOX9	c.1175C>A (p.Ser392Tyr)	dbSNP
17	g.72124032C=	CA2273926611	SOX9	c.1175C= (p.Ser392=)
17	g.72124032C>G	CA400867865	SOX9	c.1175C>G (p.Ser392Cys)	dbSNP
17	g.72124032C>T	CA400867863	SOX9	c.1175C>T (p.Ser392Phe)	dbSNP gnomAD v3 gnomAD v4
17	g.72124033C>A	CA501432861	SOX9	c.1176C>A (p.Ser392=)	dbSNP
17	g.72124033C=	CA2273926612	SOX9	c.1176C= (p.Ser392=)
17	g.72124033C>G	CA501432862	SOX9	c.1176C>G (p.Ser392=)	dbSNP
17	g.72124033C>T	CA8739119	SOX9	c.1176C>T (p.Ser392=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.72124034C>A	CA400867866	SOX9	c.1177C>A (p.Gln393Lys)	dbSNP
17	g.72124034C=	CA2273926613	SOX9	c.1177C= (p.Gln393=)
17	g.72124034C>G	CA400867867	SOX9	c.1177C>G (p.Gln393Glu)
17	g.72124034C>T	CA400867868	SOX9	c.1177C>T (p.Gln393Ter)	ClinVar dbSNP COSMIC
17	g.72124035A=	CA2273926614	SOX9	c.1178A= (p.Gln393=)
17	g.72124035A>C	CA400867869	SOX9	c.1178A>C (p.Gln393Pro)	dbSNP
17	g.72124035A>G	CA293783901	SOX9	c.1178A>G (p.Gln393Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124035A>T	CA400867870	SOX9	c.1178A>T (p.Gln393Leu)	dbSNP
17	g.72124035_72124041delinsAGCGAAC	CA2273926615	SOX9	c.1178_1184delinsAGCGAAC (p.Gln393=)
17	g.72124036G>A	CA501432863	SOX9	c.1179G>A (p.Gln393=)	dbSNP
17	g.72124036G>C	CA400867871	SOX9	c.1179G>C (p.Gln393His)	dbSNP
17	g.72124036G>T	CA400867872	SOX9	c.1179G>T (p.Gln393His)	dbSNP
17	g.72124038_72124043del	CA627589917	SOX9	c.1181_1186del (p.Arg394_Thr395del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124037C>A	CA501432864	SOX9	c.1180C>A (p.Arg394=)	dbSNP gnomAD v2
17	g.72124037C=	CA2273926616	SOX9	c.1180C= (p.Arg394=)
17	g.72124037C>G	CA400867873	SOX9	c.1180C>G (p.Arg394Gly)	dbSNP
17	g.72124037C>T	CA16043058	SOX9	c.1180C>T (p.Arg394Ter)	ClinVar dbSNP gnomAD v4
17	g.72124037dup	CA645598832	SOX9	c.1180dup (p.Arg394ProfsTer?)	COSMIC
17	g.72124038G>A	CA400867875	SOX9	c.1181G>A (p.Arg394Gln)	dbSNP gnomAD v4 COSMIC
17	g.72124038G>C	CA400867876	SOX9	c.1181G>C (p.Arg394Pro)	dbSNP COSMIC
17	g.72124038G>T	CA400867874	SOX9	c.1181G>T (p.Arg394Leu)	dbSNP COSMIC
17	g.72124039A>C	CA501432865	SOX9	c.1182A>C (p.Arg394=)	dbSNP
17	g.72124039A>G	CA501432866	SOX9	c.1182A>G (p.Arg394=)	dbSNP
17	g.72124039A>T	CA501432867	SOX9	c.1182A>T (p.Arg394=)	dbSNP
17	g.72124040A>C	CA400867877	SOX9	c.1183A>C (p.Thr395Pro)	dbSNP
17	g.72124040A>G	CA400867878	SOX9	c.1183A>G (p.Thr395Ala)	COSMIC
17	g.72124040A>T	CA400867879	SOX9	c.1183A>T (p.Thr395Ser)	dbSNP
17	g.72124041C>A	CA400867880	SOX9	c.1184C>A (p.Thr395Lys)	dbSNP
17	g.72124041C=	CA2273926617	SOX9	c.1184C= (p.Thr395=)
17	g.72124041C>G	CA400867881	SOX9	c.1184C>G (p.Thr395Arg)	dbSNP gnomAD v4
17	g.72124041C>T	CA400867882	SOX9	c.1184C>T (p.Thr395Met)	dbSNP gnomAD v2 gnomAD v4
17	g.72124042_72124043dup	CA645598833	SOX9	c.1185_1186dup (p.His396ArgfsTer8)	COSMIC
17	g.72124042G>A	CA8739120	SOX9	c.1185G>A (p.Thr395=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124042G>C	CA501432868	SOX9	c.1185G>C (p.Thr395=)	dbSNP
17	g.72124042G=	CA2273926618	SOX9	c.1185G= (p.Thr395=)
17	g.72124042G>T	CA8739121	SOX9	c.1185G>T (p.Thr395=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124043C>A	CA400867883	SOX9	c.1186C>A (p.His396Asn)
17	g.72124043C>G	CA400867884	SOX9	c.1186C>G (p.His396Asp)
17	g.72124043C>T	CA400867885	SOX9	c.1186C>T (p.His396Tyr)	dbSNP
17	g.72124044A>C	CA400867886	SOX9	c.1187A>C (p.His396Pro)	dbSNP
17	g.72124044A>G	CA400867887	SOX9	c.1187A>G (p.His396Arg)	dbSNP
17	g.72124044A>T	CA400867888	SOX9	c.1187A>T (p.His396Leu)	dbSNP
17	g.72124045C>A	CA400867889	SOX9	c.1188C>A (p.His396Gln)	dbSNP gnomAD v3 gnomAD v4
17	g.72124045C=	CA2273926619	SOX9	c.1188C= (p.His396=)
17	g.72124045C>G	CA400867890	SOX9	c.1188C>G (p.His396Gln)	dbSNP
17	g.72124045C>T	CA501432869	SOX9	c.1188C>T (p.His396=)	dbSNP
17	g.72124046A>C	CA400867891	SOX9	c.1189A>C (p.Ile397Leu)	dbSNP
17	g.72124046A>G	CA400867893	SOX9	c.1189A>G (p.Ile397Val)
17	g.72124046A>T	CA400867892	SOX9	c.1189A>T (p.Ile397Phe)	dbSNP
17	g.72124047T>A	CA400867894	SOX9	c.1190T>A (p.Ile397Asn)	dbSNP
17	g.72124047T>C	CA400867895	SOX9	c.1190T>C (p.Ile397Thr)	dbSNP
17	g.72124047T>G	CA400867896	SOX9	c.1190T>G (p.Ile397Ser)	dbSNP
17	g.72124048C>A	CA501432870	SOX9	c.1191C>A (p.Ile397=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.72124048C=	CA2273926620	SOX9	c.1191C= (p.Ile397=)
17	g.72124048C>G	CA400867897	SOX9	c.1191C>G (p.Ile397Met)	dbSNP
17	g.72124048C>T	CA501432871	SOX9	c.1191C>T (p.Ile397=)	dbSNP gnomAD v4
17	g.72124049A>C	CA400867898	SOX9	c.1192A>C (p.Lys398Gln)
17	g.72124049A>G	CA400867899	SOX9	c.1192A>G (p.Lys398Glu)	dbSNP
17	g.72124049A>T	CA400867900	SOX9	c.1192A>T (p.Lys398Ter)	dbSNP
17	g.72124050A=	CA2273926621	SOX9	c.1193A= (p.Lys398=)
17	g.72124050A>C	CA400867901	SOX9	c.1193A>C (p.Lys398Thr)
17	g.72124050A>G	CA16607835	SOX9	c.1193A>G (p.Lys398Arg)	ClinVar dbSNP
17	g.72124050A>T	CA400867902	SOX9	c.1193A>T (p.Lys398Met)	dbSNP
17	g.72124050_72124054delinsAGACG	CA2273926622	SOX9	c.1193_1197delinsAGACG (p.Lys398=)
17	g.72124051G>A	CA501432872	SOX9	c.1194G>A (p.Lys398=)	dbSNP
17	g.72124051G>C	CA400867903	SOX9	c.1194G>C (p.Lys398Asn)	dbSNP gnomAD v4
17	g.72124051G>T	CA400867904	SOX9	c.1194G>T (p.Lys398Asn)
17	g.72124053_72124056del	CA1139665864	SOX9	c.1196_1199del (p.Thr399SerfsTer3)	ClinVar dbSNP
17	g.72124052A>C	CA400867905	SOX9	c.1195A>C (p.Thr399Pro)	dbSNP
17	g.72124052A>G	CA400867907	SOX9	c.1195A>G (p.Thr399Ala)	dbSNP gnomAD v4
17	g.72124052A>T	CA400867906	SOX9	c.1195A>T (p.Thr399Ser)	dbSNP
17	g.72124053C>A	CA400867908	SOX9	c.1196C>A (p.Thr399Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.72124053C=	CA2273926623	SOX9	c.1196C= (p.Thr399=)
17	g.72124053C>G	CA400867909	SOX9	c.1196C>G (p.Thr399Arg)	dbSNP
17	g.72124053C>T	CA400867910	SOX9	c.1196C>T (p.Thr399Met)	ClinVar dbSNP gnomAD v4
17	g.72124054G>A	CA501432873	SOX9	c.1197G>A (p.Thr399=)	dbSNP gnomAD v2 gnomAD v4
17	g.72124054G>C	CA8739122	SOX9	c.1197G>C (p.Thr399=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124054G=	CA2273926624	SOX9	c.1197G= (p.Thr399=)
17	g.72124054G>T	CA501432874	SOX9	c.1197G>T (p.Thr399=)	dbSNP gnomAD v4
17	g.72124054_72124055del	CA2639603210	SOX9	c.1197_1198del (p.Glu400AlafsTer?)	gnomAD v4
17	g.72124055dup	CA501432875	SOX9	c.1198dup (p.Glu400GlyfsTer?)	COSMIC
17	g.72124055G>A	CA400867911	SOX9	c.1198G>A (p.Glu400Lys)	dbSNP gnomAD v4
17	g.72124055G>C	CA400867912	SOX9	c.1198G>C (p.Glu400Gln)	dbSNP
17	g.72124055G>T	CA400867913	SOX9	c.1198G>T (p.Glu400Ter)	dbSNP
17	g.72124056A>C	CA400867914	SOX9	c.1199A>C (p.Glu400Ala)
17	g.72124056A>G	CA400867915	SOX9	c.1199A>G (p.Glu400Gly)	dbSNP
17	g.72124056A>T	CA400867916	SOX9	c.1199A>T (p.Glu400Val)	dbSNP
17	g.72124057G>A	CA501432876	SOX9	c.1200G>A (p.Glu400=)	dbSNP
17	g.72124057G>C	CA400867918	SOX9	c.1200G>C (p.Glu400Asp)	dbSNP
17	g.72124057G>T	CA400867917	SOX9	c.1200G>T (p.Glu400Asp)
17	g.72124057_72124058dup	CA645598834	SOX9	c.1200_1201dup (p.Gln401ArgfsTer3)	COSMIC
17	g.72124058C>A	CA400867919	SOX9	c.1201C>A (p.Gln401Lys)	dbSNP
17	g.72124058C>G	CA400867920	SOX9	c.1201C>G (p.Gln401Glu)	dbSNP gnomAD v4
17	g.72124058C>T	CA400867921	SOX9	c.1201C>T (p.Gln401Ter)	dbSNP
17	g.72124060_72124074del	CA2639603211	SOX9	c.1203_1217del (p.Gln401_Ser405del)	gnomAD v4
17	g.72124059A>C	CA400867922	SOX9	c.1202A>C (p.Gln401Pro)
17	g.72124059A>G	CA400867923	SOX9	c.1202A>G (p.Gln401Arg)	dbSNP gnomAD v4
17	g.72124059A>T	CA400867924	SOX9	c.1202A>T (p.Gln401Leu)	dbSNP
17	g.72124060G>A	CA501432877	SOX9	c.1203G>A (p.Gln401=)	dbSNP gnomAD v4
17	g.72124060G>C	CA400867926	SOX9	c.1203G>C (p.Gln401His)	dbSNP
17	g.72124060G>T	CA400867925	SOX9	c.1203G>T (p.Gln401His)	dbSNP
17	g.72124061C>A	CA400867927	SOX9	c.1204C>A (p.Leu402Met)	dbSNP
17	g.72124061C=	CA2273926625	SOX9	c.1204C= (p.Leu402=)
17	g.72124061C>G	CA400867928	SOX9	c.1204C>G (p.Leu402Val)	dbSNP
17	g.72124061C>T	CA293783941	SOX9	c.1204C>T (p.Leu402=)	dbSNP
17	g.72124062T>A	CA400867929	SOX9	c.1205T>A (p.Leu402Gln)	dbSNP
17	g.72124062T>C	CA400867930	SOX9	c.1205T>C (p.Leu402Pro)	dbSNP
17	g.72124062T>G	CA400867931	SOX9	c.1205T>G (p.Leu402Arg)
17	g.72124063G>A	CA501432878	SOX9	c.1206G>A (p.Leu402=)
17	g.72124063G>C	CA501432879	SOX9	c.1206G>C (p.Leu402=)
17	g.72124063G>T	CA501432880	SOX9	c.1206G>T (p.Leu402=)	dbSNP
17	g.72124067_72124085del	CA645598835	SOX9	c.1210_1228del (p.Pro404SerfsTer?)	COSMIC
17	g.72124064A>C	CA400867932	SOX9	c.1207A>C (p.Ser403Arg)	dbSNP
17	g.72124064A>G	CA400867934	SOX9	c.1207A>G (p.Ser403Gly)	dbSNP
17	g.72124064A>T	CA400867933	SOX9	c.1207A>T (p.Ser403Cys)	dbSNP
17	g.72124065G>A	CA400867935	SOX9	c.1208G>A (p.Ser403Asn)	dbSNP gnomAD v4
17	g.72124065G>C	CA400867936	SOX9	c.1208G>C (p.Ser403Thr)	dbSNP
17	g.72124065G>T	CA400867937	SOX9	c.1208G>T (p.Ser403Ile)
17	g.72124085_72124086insTTTGCCCCAGCCACTACAGCGAGC	CA2639603212	SOX9	c.1228_1229insTTTGCCCCAGCCACTACAGCGAGC (p.Glu409_Gln410insLeuCysProSerHisTyrSerGlu)	gnomAD v4
17	g.72124066C>A	CA400867938	SOX9	c.1209C>A (p.Ser403Arg)	dbSNP
17	g.72124066C=	CA2273926626	SOX9	c.1209C= (p.Ser403=)
17	g.72124066C>G	CA400867939	SOX9	c.1209C>G (p.Ser403Arg)	dbSNP
17	g.72124066C>T	CA501432881	SOX9	c.1209C>T (p.Ser403=)	dbSNP gnomAD v2 gnomAD v4
17	g.72124069dup	CA2810344967	SOX9	c.1212dup (p.Ser405GlnfsTer?)
17	g.72124069del	CA2576374518	SOX9	c.1212del (p.Ser405AlafsTer?)
17	g.72124067C>A	CA400867940	SOX9	c.1210C>A (p.Pro404Thr)	dbSNP
17	g.72124067C>G	CA400867941	SOX9	c.1210C>G (p.Pro404Ala)	dbSNP
17	g.72124067C>T	CA400867942	SOX9	c.1210C>T (p.Pro404Ser)	dbSNP
17	g.72124068C>A	CA400867943	SOX9	c.1211C>A (p.Pro404His)	dbSNP
17	g.72124068C>G	CA400867944	SOX9	c.1211C>G (p.Pro404Arg)	dbSNP
17	g.72124068C>T	CA400867945	SOX9	c.1211C>T (p.Pro404Leu)	dbSNP
17	g.72124069C>A	CA501432882	SOX9	c.1212C>A (p.Pro404=)
17	g.72124069C=	CA2273926627	SOX9	c.1212C= (p.Pro404=)
17	g.72124069C>G	CA501432883	SOX9	c.1212C>G (p.Pro404=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124069C>T	CA8739123	SOX9	c.1212C>T (p.Pro404=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124073_72124088dup	CA2695226905	SOX9	c.1216_1231dup (p.Gln411ProfsTer?)
17	g.72124070A>C	CA400867947	SOX9	c.1213A>C (p.Ser405Arg)	dbSNP
17	g.72124070A>G	CA400867948	SOX9	c.1213A>G (p.Ser405Gly)	dbSNP
17	g.72124070A>T	CA400867946	SOX9	c.1213A>T (p.Ser405Cys)	dbSNP
17	g.72124071G>A	CA400867951	SOX9	c.1214G>A (p.Ser405Asn)	dbSNP gnomAD v4
17	g.72124071G>C	CA400867949	SOX9	c.1214G>C (p.Ser405Thr)	dbSNP
17	g.72124071G>T	CA400867950	SOX9	c.1214G>T (p.Ser405Ile)	dbSNP gnomAD v4
17	g.72124072C>A	CA400867952	SOX9	c.1215C>A (p.Ser405Arg)	dbSNP
17	g.72124072C>G	CA400867953	SOX9	c.1215C>G (p.Ser405Arg)	dbSNP
17	g.72124072C>T	CA501432884	SOX9	c.1215C>T (p.Ser405=)	dbSNP
17	g.72124073C>A	CA400867954	SOX9	c.1216C>A (p.His406Asn)	dbSNP
17	g.72124073C=	CA2273926628	SOX9	c.1216C= (p.His406=)
17	g.72124073C>G	CA400867955	SOX9	c.1216C>G (p.His406Asp)	dbSNP
17	g.72124073C>T	CA400867956	SOX9	c.1216C>T (p.His406Tyr)	dbSNP
17	g.72124074A=	CA2273926629	SOX9	c.1217A= (p.His406=)
17	g.72124074A>C	CA400867959	SOX9	c.1217A>C (p.His406Pro)	dbSNP
17	g.72124074A>G	CA400867957	SOX9	c.1217A>G (p.His406Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.72124074A>T	CA400867958	SOX9	c.1217A>T (p.His406Leu)	dbSNP
17	g.72124075C>A	CA8739124	SOX9	c.1218C>A (p.His406Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124075C=	CA2273926630	SOX9	c.1218C= (p.His406=)
17	g.72124075C>G	CA400867960	SOX9	c.1218C>G (p.His406Gln)	dbSNP
17	g.72124075C>T	CA501432885	SOX9	c.1218C>T (p.His406=)
17	g.72124076T>A	CA400867961	SOX9	c.1219T>A (p.Tyr407Asn)	dbSNP
17	g.72124076T>C	CA400867962	SOX9	c.1219T>C (p.Tyr407His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124076T>G	CA400867963	SOX9	c.1219T>G (p.Tyr407Asp)
17	g.72124076T=	CA2273926631	SOX9	c.1219T= (p.Tyr407=)
17	g.72124077A>C	CA400867964	SOX9	c.1220A>C (p.Tyr407Ser)	dbSNP
17	g.72124077A>G	CA400867966	SOX9	c.1220A>G (p.Tyr407Cys)	dbSNP
17	g.72124077A>T	CA400867965	SOX9	c.1220A>T (p.Tyr407Phe)	dbSNP
17	g.72124078C>A	CA400867967	SOX9	c.1221C>A (p.Tyr407Ter)
17	g.72124078C=	CA2273926632	SOX9	c.1221C= (p.Tyr407=)
17	g.72124078C>G	CA400867968	SOX9	c.1221C>G (p.Tyr407Ter)
17	g.72124078C>T	CA8739125	SOX9	c.1221C>T (p.Tyr407=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124079A>C	CA400867969	SOX9	c.1222A>C (p.Ser408Arg)	dbSNP
17	g.72124079A>G	CA400867970	SOX9	c.1222A>G (p.Ser408Gly)	dbSNP
17	g.72124079A>T	CA400867971	SOX9	c.1222A>T (p.Ser408Cys)	dbSNP
17	g.72124080G>A	CA400867972	SOX9	c.1223G>A (p.Ser408Asn)	dbSNP
17	g.72124080G>C	CA400867973	SOX9	c.1223G>C (p.Ser408Thr)	dbSNP
17	g.72124080G=	CA2273926633	SOX9	c.1223G= (p.Ser408=)
17	g.72124080G>T	CA293783950	SOX9	c.1223G>T (p.Ser408Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72124081C>A	CA400867974	SOX9	c.1224C>A (p.Ser408Arg)
17	g.72124081C=	CA2273926634	SOX9	c.1224C= (p.Ser408=)
17	g.72124081C>G	CA400867975	SOX9	c.1224C>G (p.Ser408Arg)	gnomAD v4
17	g.72124081C>T	CA8739126	SOX9	c.1224C>T (p.Ser408=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124082del	CA645598836	SOX9	c.1225del (p.Glu409SerfsTer?)	COSMIC
17	g.72124082G>A	CA400867976	SOX9	c.1225G>A (p.Glu409Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124082G>C	CA400867978	SOX9	c.1225G>C (p.Glu409Gln)
17	g.72124082G=	CA2273926635	SOX9	c.1225G= (p.Glu409=)
17	g.72124082G>T	CA400867977	SOX9	c.1225G>T (p.Glu409Ter)	COSMIC
17	g.72124082_72124085delinsGAGC	CA2273926636	SOX9	c.1225_1228delinsGAGC (p.Glu409=)
17	g.72124083A>C	CA400867979	SOX9	c.1226A>C (p.Glu409Ala)	dbSNP
17	g.72124083A>G	CA400867980	SOX9	c.1226A>G (p.Glu409Gly)	dbSNP gnomAD v4
17	g.72124083A>T	CA400867981	SOX9	c.1226A>T (p.Glu409Val)	dbSNP
17	g.72124093_72124095dup	CA986080903	SOX9	c.1236_1238dup (p.Gln412_His413insGln)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72124093_72124095del	CA501432886	SOX9	c.1236_1238del (p.Gln412del)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.72124084G>A	CA501432887	SOX9	c.1227G>A (p.Glu409=)	dbSNP gnomAD v4
17	g.72124084G>C	CA400867982	SOX9	c.1227G>C (p.Glu409Asp)	dbSNP
17	g.72124084G>T	CA400867983	SOX9	c.1227G>T (p.Glu409Asp)
17	g.72124085C>A	CA400867984	SOX9	c.1228C>A (p.Gln410Lys)	dbSNP
17	g.72124085C>G	CA400867985	SOX9	c.1228C>G (p.Gln410Glu)	dbSNP
17	g.72124085C>T	CA400867986	SOX9	c.1228C>T (p.Gln410Ter)	dbSNP COSMIC
17	g.72124086A=	CA2273926637	SOX9	c.1229A= (p.Gln410=)
17	g.72124086A>C	CA400867987	SOX9	c.1229A>C (p.Gln410Pro)	gnomAD v4
17	g.72124086A>G	CA400867988	SOX9	c.1229A>G (p.Gln410Arg)
17	g.72124086A>T	CA400867989	SOX9	c.1229A>T (p.Gln410Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.72124087G>A	CA501432888	SOX9	c.1230G>A (p.Gln410=)	dbSNP gnomAD v4
17	g.72124087G>C	CA400867990	SOX9	c.1230G>C (p.Gln410His)	dbSNP
17	g.72124087G=	CA2273926638	SOX9	c.1230G= (p.Gln410=)
17	g.72124087G>T	CA400867991	SOX9	c.1230G>T (p.Gln410His)	dbSNP gnomAD v2 gnomAD v4
17	g.72124088C>A	CA400867992	SOX9	c.1231C>A (p.Gln411Lys)	dbSNP
17	g.72124088C>G	CA400867994	SOX9	c.1231C>G (p.Gln411Glu)	dbSNP
17	g.72124088C>T	CA400867993	SOX9	c.1231C>T (p.Gln411Ter)	dbSNP COSMIC
17	g.72124089A>C	CA400867995	SOX9	c.1232A>C (p.Gln411Pro)	dbSNP
17	g.72124089A>G	CA400867996	SOX9	c.1232A>G (p.Gln411Arg)	dbSNP gnomAD v4
17	g.72124089A>T	CA400867997	SOX9	c.1232A>T (p.Gln411Leu)	dbSNP
17	g.72124090G>A	CA501432889	SOX9	c.1233G>A (p.Gln411=)	dbSNP
17	g.72124090G>C	CA400867998	SOX9	c.1233G>C (p.Gln411His)
17	g.72124090G>T	CA400867999	SOX9	c.1233G>T (p.Gln411His)
17	g.72124091C>A	CA400868000	SOX9	c.1234C>A (p.Gln412Lys)	dbSNP
17	g.72124091C=	CA2273926639	SOX9	c.1234C= (p.Gln412=)
17	g.72124091C>G	CA400868001	SOX9	c.1234C>G (p.Gln412Glu)	dbSNP gnomAD v4
17	g.72124091C>T	CA400868002	SOX9	c.1234C>T (p.Gln412Ter)	ClinVar dbSNP COSMIC
17	g.72124092A>C	CA400868003	SOX9	c.1235A>C (p.Gln412Pro)
17	g.72124092A>G	CA400868004	SOX9	c.1235A>G (p.Gln412Arg)	dbSNP
17	g.72124092A>T	CA400868005	SOX9	c.1235A>T (p.Gln412Leu)	dbSNP
17	g.72124093G>A	CA501432890	SOX9	c.1236G>A (p.Gln412=)	dbSNP gnomAD v4
17	g.72124093G>C	CA400868007	SOX9	c.1236G>C (p.Gln412His)	dbSNP
17	g.72124093G>T	CA400868006	SOX9	c.1236G>T (p.Gln412His)
17	g.72124094C>A	CA400868008	SOX9	c.1237C>A (p.His413Asn)	dbSNP
17	g.72124094C>G	CA400868009	SOX9	c.1237C>G (p.His413Asp)	dbSNP
17	g.72124094C>T	CA400868010	SOX9	c.1237C>T (p.His413Tyr)	dbSNP
17	g.72124095A=	CA2273926640	SOX9	c.1238A= (p.His413=)
17	g.72124095A>C	CA400868011	SOX9	c.1238A>C (p.His413Pro)	dbSNP
17	g.72124095A>G	CA400868012	SOX9	c.1238A>G (p.His413Arg)	gnomAD v4
17	g.72124095A>T	CA400868013	SOX9	c.1238A>T (p.His413Leu)	dbSNP
17	g.72124096C>A	CA400868014	SOX9	c.1239C>A (p.His413Gln)	dbSNP gnomAD v4
17	g.72124096C>G	CA400868015	SOX9	c.1239C>G (p.His413Gln)	dbSNP
17	g.72124096C>T	CA501432891	SOX9	c.1239C>T (p.His413=)	dbSNP
17	g.72124097T>A	CA400868016	SOX9	c.1240T>A (p.Ser414Thr)	dbSNP
17	g.72124097T>C	CA400868017	SOX9	c.1240T>C (p.Ser414Pro)	dbSNP
17	g.72124097T>G	CA400868018	SOX9	c.1240T>G (p.Ser414Ala)
17	g.72124098C>A	CA400868019	SOX9	c.1241C>A (p.Ser414Ter)	dbSNP COSMIC
17	g.72124098C=	CA2273926641	SOX9	c.1241C= (p.Ser414=)
17	g.72124098C>G	CA400868020	SOX9	c.1241C>G (p.Ser414Trp)	dbSNP
17	g.72124098C>T	CA8739127	SOX9	c.1241C>T (p.Ser414Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124099_72124100dup	CA645598837	SOX9	c.1242_1243dup (p.Pro415ArgfsTer?)	COSMIC COSMIC

Number of alleles fetched