Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72124067_72124085del	CA645598835	SOX9	c.1210_1228del (p.Pro404SerfsTer?)	COSMIC
17	g.72124085_72124086insTTTGCCCCAGCCACTACAGCGAGC	CA2639603212	SOX9	c.1228_1229insTTTGCCCCAGCCACTACAGCGAGC (p.Glu409_Gln410insLeuCysProSerHisTyrSerGlu)	gnomAD v4
17	g.72124073_72124088dup	CA2695226905	SOX9	c.1216_1231dup (p.Gln411ProfsTer?)
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
17	g.72124099del	CA645598838	SOX9	c.1242del (p.Gln416AsnfsTer?)	COSMIC
17	g.72124099G>A	CA501432893	SOX9	c.1242G>A (p.Ser414=)	ClinVar dbSNP gnomAD v4
17	g.72124099G>C	CA501432894	SOX9	c.1242G>C (p.Ser414=)	dbSNP gnomAD v4
17	g.72124099G=	CA2273926642	SOX9	c.1242G= (p.Ser414=)
17	g.72124099G>T	CA501432892	SOX9	c.1242G>T (p.Ser414=)	dbSNP gnomAD v4
17	g.72124099_72124100insT	CA2695226906	SOX9	c.1242_1243insT (p.Pro415SerfsTer?)
17	g.72124100C>A	CA400868023	SOX9	c.1243C>A (p.Pro415Thr)	dbSNP
17	g.72124100C>G	CA400868022	SOX9	c.1243C>G (p.Pro415Ala)	dbSNP
17	g.72124100C>T	CA400868021	SOX9	c.1243C>T (p.Pro415Ser)	dbSNP
17	g.72124103del	CA501432895	SOX9	c.1246del (p.Gln416AsnfsTer?)	COSMIC
17	g.72124101C>A	CA400868024	SOX9	c.1244C>A (p.Pro415His)	dbSNP
17	g.72124101C=	CA2273926643	SOX9	c.1244C= (p.Pro415=)
17	g.72124101C>G	CA400868025	SOX9	c.1244C>G (p.Pro415Arg)	dbSNP
17	g.72124101C>T	CA400868026	SOX9	c.1244C>T (p.Pro415Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.72124102C>A	CA501432896	SOX9	c.1245C>A (p.Pro415=)
17	g.72124102C>G	CA501432897	SOX9	c.1245C>G (p.Pro415=)	gnomAD v4
17	g.72124102C>T	CA501432898	SOX9	c.1245C>T (p.Pro415=)	dbSNP
17	g.72124103C>A	CA400868027	SOX9	c.1246C>A (p.Gln416Lys)	dbSNP
17	g.72124103C=	CA2273926644	SOX9	c.1246C= (p.Gln416=)
17	g.72124103C>G	CA8739128	SOX9	c.1246C>G (p.Gln416Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124103C>T	CA400868028	SOX9	c.1246C>T (p.Gln416Ter)	dbSNP
17	g.72124104A=	CA2273926645	SOX9	c.1247A= (p.Gln416=)
17	g.72124104A>C	CA400868029	SOX9	c.1247A>C (p.Gln416Pro)	dbSNP
17	g.72124104A>G	CA400868030	SOX9	c.1247A>G (p.Gln416Arg)
17	g.72124104A>T	CA400868031	SOX9	c.1247A>T (p.Gln416Leu)
17	g.72124105A>C	CA400868032	SOX9	c.1248A>C (p.Gln416His)	dbSNP
17	g.72124105A>G	CA501432899	SOX9	c.1248A>G (p.Gln416=)	dbSNP gnomAD v4
17	g.72124105A>T	CA400868033	SOX9	c.1248A>T (p.Gln416His)	dbSNP
17	g.72124106C>A	CA400868034	SOX9	c.1249C>A (p.Gln417Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.72124106C=	CA2273926646	SOX9	c.1249C= (p.Gln417=)
17	g.72124106C>G	CA400868035	SOX9	c.1249C>G (p.Gln417Glu)	dbSNP gnomAD v4
17	g.72124106C>T	CA10606006	SOX9	c.1249C>T (p.Gln417Ter)	ClinVar dbSNP COSMIC
17	g.72124107A=	CA2273926647	SOX9	c.1250A= (p.Gln417=)
17	g.72124107A>C	CA400868037	SOX9	c.1250A>C (p.Gln417Pro)
17	g.72124107A>G	CA400868038	SOX9	c.1250A>G (p.Gln417Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.72124107A>T	CA400868036	SOX9	c.1250A>T (p.Gln417Leu)	dbSNP
17	g.72124108G>A	CA501432900	SOX9	c.1251G>A (p.Gln417=)	dbSNP
17	g.72124108G>C	CA8739129	SOX9	c.1251G>C (p.Gln417His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124108G=	CA2273926648	SOX9	c.1251G= (p.Gln417=)
17	g.72124108G>T	CA400868039	SOX9	c.1251G>T (p.Gln417His)	dbSNP
17	g.72124109A>C	CA400868040	SOX9	c.1252A>C (p.Ile418Leu)	dbSNP
17	g.72124109A>G	CA400868041	SOX9	c.1252A>G (p.Ile418Val)	dbSNP gnomAD v4
17	g.72124109A>T	CA400868042	SOX9	c.1252A>T (p.Ile418Phe)	dbSNP
17	g.72124110T>A	CA400868043	SOX9	c.1253T>A (p.Ile418Asn)	dbSNP
17	g.72124110T>C	CA400868044	SOX9	c.1253T>C (p.Ile418Thr)	dbSNP
17	g.72124110T>G	CA400868045	SOX9	c.1253T>G (p.Ile418Ser)	dbSNP
17	g.72124111C>A	CA8739130	SOX9	c.1254C>A (p.Ile418=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124111C=	CA2273926649	SOX9	c.1254C= (p.Ile418=)
17	g.72124111C>G	CA8739131	SOX9	c.1254C>G (p.Ile418Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124111C>T	CA501432901	SOX9	c.1254C>T (p.Ile418=)	dbSNP gnomAD v4
17	g.72124112del	CA2697555122	SOX9	c.1255del (p.Ala419ProfsTer?)	ClinVar
17	g.72124112G>A	CA400868046	SOX9	c.1255G>A (p.Ala419Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.72124112G>C	CA400868047	SOX9	c.1255G>C (p.Ala419Pro)	dbSNP
17	g.72124112G=	CA2273926650	SOX9	c.1255G= (p.Ala419=)
17	g.72124112G>T	CA400868048	SOX9	c.1255G>T (p.Ala419Ser)	dbSNP gnomAD v4
17	g.72124113C>A	CA400868051	SOX9	c.1256C>A (p.Ala419Asp)	dbSNP
17	g.72124113C=	CA2273926651	SOX9	c.1256C= (p.Ala419=)
17	g.72124113C>G	CA400868049	SOX9	c.1256C>G (p.Ala419Gly)	dbSNP
17	g.72124113C>T	CA400868050	SOX9	c.1256C>T (p.Ala419Val)	dbSNP gnomAD v3 gnomAD v4
17	g.72124114C>A	CA501432902	SOX9	c.1257C>A (p.Ala419=)	dbSNP
17	g.72124114C=	CA2273926652	SOX9	c.1257C= (p.Ala419=)
17	g.72124114C>G	CA501432903	SOX9	c.1257C>G (p.Ala419=)	dbSNP
17	g.72124114C>T	CA293783999	SOX9	c.1257C>T (p.Ala419=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124115T>A	CA400868052	SOX9	c.1258T>A (p.Tyr420Asn)	dbSNP
17	g.72124115T>C	CA400868053	SOX9	c.1258T>C (p.Tyr420His)	dbSNP
17	g.72124115T>G	CA400868054	SOX9	c.1258T>G (p.Tyr420Asp)
17	g.72124116A>C	CA400868055	SOX9	c.1259A>C (p.Tyr420Ser)	dbSNP
17	g.72124116A>G	CA400868056	SOX9	c.1259A>G (p.Tyr420Cys)	dbSNP gnomAD v4
17	g.72124116A>T	CA400868057	SOX9	c.1259A>T (p.Tyr420Phe)	dbSNP
17	g.72124116_72124133delinsACAGCCCCTTCAACCTCC	CA2273926653	SOX9	c.1259_1276delinsACAGCCCCTTCAACCTCC (p.Tyr420=)
17	g.72124117C>A	CA400868058	SOX9	c.1260C>A (p.Tyr420Ter)	dbSNP
17	g.72124117C>G	CA400868059	SOX9	c.1260C>G (p.Tyr420Ter)	dbSNP
17	g.72124117C>T	CA501432904	SOX9	c.1260C>T (p.Tyr420=)	dbSNP gnomAD v4 COSMIC
17	g.72124117_72124118insCAGCC	CA645598839	SOX9	c.1260_1261insCAGCC (p.Ser421GlnfsTer?)	COSMIC
17	g.72124119_72124135del	CA16043004	SOX9	c.1262_1278del (p.Ser421ThrfsTer?)	ClinVar dbSNP
17	g.72124118A>C	CA400868060	SOX9	c.1261A>C (p.Ser421Arg)	dbSNP
17	g.72124118A>G	CA400868061	SOX9	c.1261A>G (p.Ser421Gly)	dbSNP
17	g.72124118A>T	CA400868062	SOX9	c.1261A>T (p.Ser421Cys)	dbSNP
17	g.72124119G>A	CA400868065	SOX9	c.1262G>A (p.Ser421Asn)	dbSNP
17	g.72124119G>C	CA400868064	SOX9	c.1262G>C (p.Ser421Thr)	dbSNP
17	g.72124119G>T	CA400868063	SOX9	c.1262G>T (p.Ser421Ile)	dbSNP
17	g.72124120C>A	CA400868066	SOX9	c.1263C>A (p.Ser421Arg)
17	g.72124120C=	CA2273926654	SOX9	c.1263C= (p.Ser421=)
17	g.72124120C>G	CA400868067	SOX9	c.1263C>G (p.Ser421Arg)	dbSNP
17	g.72124120C>T	CA8739132	SOX9	c.1263C>T (p.Ser421=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124121C>A	CA400868068	SOX9	c.1264C>A (p.Pro422Thr)	dbSNP
17	g.72124121C=	CA2273926655	SOX9	c.1264C= (p.Pro422=)
17	g.72124121C>G	CA400868069	SOX9	c.1264C>G (p.Pro422Ala)	dbSNP
17	g.72124121C>T	CA400868070	SOX9	c.1264C>T (p.Pro422Ser)	dbSNP
17	g.72124122C>A	CA400868071	SOX9	c.1265C>A (p.Pro422His)	dbSNP
17	g.72124122C>G	CA400868072	SOX9	c.1265C>G (p.Pro422Arg)	dbSNP gnomAD v4
17	g.72124122C>T	CA400868073	SOX9	c.1265C>T (p.Pro422Leu)	dbSNP
17	g.72124123C>A	CA501432905	SOX9	c.1266C>A (p.Pro422=)	dbSNP
17	g.72124123C>G	CA501432906	SOX9	c.1266C>G (p.Pro422=)
17	g.72124123C>T	CA501432907	SOX9	c.1266C>T (p.Pro422=)	dbSNP
17	g.72124124T>A	CA400868074	SOX9	c.1267T>A (p.Phe423Ile)	dbSNP
17	g.72124124T>C	CA400868075	SOX9	c.1267T>C (p.Phe423Leu)	dbSNP
17	g.72124124T>G	CA400868076	SOX9	c.1267T>G (p.Phe423Val)
17	g.72124125del	CA501432921	SOX9	c.1268del (p.Phe423SerfsTer?)
17	g.72124125T>A	CA400868077	SOX9	c.1268T>A (p.Phe423Tyr)	dbSNP
17	g.72124125T>C	CA400868078	SOX9	c.1268T>C (p.Phe423Ser)	dbSNP
17	g.72124125T>G	CA400868079	SOX9	c.1268T>G (p.Phe423Cys)
17	g.72124125T=	CA2273926656	SOX9	c.1268T= (p.Phe423=)
17	g.72124126C>A	CA400868080	SOX9	c.1269C>A (p.Phe423Leu)
17	g.72124126C>G	CA400868081	SOX9	c.1269C>G (p.Phe423Leu)	dbSNP
17	g.72124126C>T	CA501432922	SOX9	c.1269C>T (p.Phe423=)	dbSNP
17	g.72124127_72124150dup	CA2273926657	SOX9	c.1270_1293dup (p.Ser431_Tyr432insAsnLeuProHisTyrSerProSer)	dbSNP
17	g.72124127A>C	CA400868082	SOX9	c.1270A>C (p.Asn424His)	dbSNP gnomAD v4
17	g.72124127A>G	CA400868083	SOX9	c.1270A>G (p.Asn424Asp)
17	g.72124127A>T	CA400868084	SOX9	c.1270A>T (p.Asn424Tyr)	dbSNP
17	g.72124128A=	CA2273926658	SOX9	c.1271A= (p.Asn424=)
17	g.72124128A>C	CA400868085	SOX9	c.1271A>C (p.Asn424Thr)	dbSNP
17	g.72124128A>G	CA400868086	SOX9	c.1271A>G (p.Asn424Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.72124128A>T	CA400868087	SOX9	c.1271A>T (p.Asn424Ile)	dbSNP
17	g.72124129C>A	CA400868089	SOX9	c.1272C>A (p.Asn424Lys)	dbSNP gnomAD v4
17	g.72124129C>G	CA400868088	SOX9	c.1272C>G (p.Asn424Lys)	dbSNP
17	g.72124129C>T	CA501432923	SOX9	c.1272C>T (p.Asn424=)	dbSNP gnomAD v4
17	g.72124130C>A	CA400868090	SOX9	c.1273C>A (p.Leu425Ile)	dbSNP gnomAD v4
17	g.72124130C=	CA2273926659	SOX9	c.1273C= (p.Leu425=)
17	g.72124130C>G	CA400868091	SOX9	c.1273C>G (p.Leu425Val)	dbSNP
17	g.72124130C>T	CA400868092	SOX9	c.1273C>T (p.Leu425Phe)	dbSNP
17	g.72124131T>A	CA400868093	SOX9	c.1274T>A (p.Leu425His)
17	g.72124131T>C	CA400868094	SOX9	c.1274T>C (p.Leu425Pro)
17	g.72124131T>G	CA400868095	SOX9	c.1274T>G (p.Leu425Arg)
17	g.72124132C>A	CA501432924	SOX9	c.1275C>A (p.Leu425=)	dbSNP
17	g.72124132C>G	CA501432926	SOX9	c.1275C>G (p.Leu425=)	dbSNP
17	g.72124132C>T	CA501432925	SOX9	c.1275C>T (p.Leu425=)	dbSNP
17	g.72124133C>A	CA400868096	SOX9	c.1276C>A (p.Pro426Thr)
17	g.72124133C>G	CA400868098	SOX9	c.1276C>G (p.Pro426Ala)	dbSNP
17	g.72124133C>T	CA400868097	SOX9	c.1276C>T (p.Pro426Ser)	dbSNP
17	g.72124134C>A	CA400868099	SOX9	c.1277C>A (p.Pro426Gln)	dbSNP gnomAD v4
17	g.72124134C>G	CA400868100	SOX9	c.1277C>G (p.Pro426Arg)
17	g.72124134C>T	CA400868101	SOX9	c.1277C>T (p.Pro426Leu)	dbSNP gnomAD v4
17	g.72124134_72124135insGA	CA645598840	SOX9	c.1277_1278insGA (p.His427AsnfsTer?)	COSMIC
17	g.72124135A>C	CA501432927	SOX9	c.1278A>C (p.Pro426=)	dbSNP
17	g.72124135A>G	CA501432928	SOX9	c.1278A>G (p.Pro426=)
17	g.72124135A>T	CA501432929	SOX9	c.1278A>T (p.Pro426=)	dbSNP
17	g.72124136C>A	CA400868102	SOX9	c.1279C>A (p.His427Asn)	gnomAD v4
17	g.72124136C>G	CA400868103	SOX9	c.1279C>G (p.His427Asp)	dbSNP
17	g.72124136C>T	CA400868104	SOX9	c.1279C>T (p.His427Tyr)	dbSNP
17	g.72124138_72124160del	CA645598841	SOX9	c.1281_1303del (p.Tyr428HisfsTer?)	COSMIC
17	g.72124137A=	CA2273926660	SOX9	c.1280A= (p.His427=)
17	g.72124137A>C	CA400868106	SOX9	c.1280A>C (p.His427Pro)	dbSNP
17	g.72124137A>G	CA8739133	SOX9	c.1280A>G (p.His427Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124137A>T	CA400868105	SOX9	c.1280A>T (p.His427Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.72124138C>A	CA400868107	SOX9	c.1281C>A (p.His427Gln)
17	g.72124138C=	CA2273926661	SOX9	c.1281C= (p.His427=)
17	g.72124138C>G	CA400868108	SOX9	c.1281C>G (p.His427Gln)	dbSNP
17	g.72124138C>T	CA501432930	SOX9	c.1281C>T (p.His427=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124139del	CA2734006303	SOX9	c.1282del (p.Tyr428ThrfsTer?)	dbSNP
17	g.72124139T>A	CA400868109	SOX9	c.1282T>A (p.Tyr428Asn)	dbSNP
17	g.72124139T>C	CA8739134	SOX9	c.1282T>C (p.Tyr428His)	dbSNP ExAC gnomAD v2
17	g.72124139T>G	CA400868110	SOX9	c.1282T>G (p.Tyr428Asp)
17	g.72124139T=	CA2273926662	SOX9	c.1282T= (p.Tyr428=)
17	g.72124140A>C	CA400868111	SOX9	c.1283A>C (p.Tyr428Ser)	dbSNP
17	g.72124140A>G	CA400868113	SOX9	c.1283A>G (p.Tyr428Cys)	COSMIC
17	g.72124140A>T	CA400868112	SOX9	c.1283A>T (p.Tyr428Phe)	dbSNP
17	g.72124141C>A	CA400868114	SOX9	c.1284C>A (p.Tyr428Ter)	dbSNP
17	g.72124141C=	CA2273926663	SOX9	c.1284C= (p.Tyr428=)
17	g.72124141C>G	CA400868115	SOX9	c.1284C>G (p.Tyr428Ter)	dbSNP
17	g.72124141C>T	CA293784012	SOX9	c.1284C>T (p.Tyr428=)	dbSNP gnomAD v2 gnomAD v4
17	g.72124142A=	CA2273926664	SOX9	c.1285A= (p.Ser429=)
17	g.72124142A>C	CA400868116	SOX9	c.1285A>C (p.Ser429Arg)	dbSNP
17	g.72124142A>G	CA400868117	SOX9	c.1285A>G (p.Ser429Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124142A>T	CA400868118	SOX9	c.1285A>T (p.Ser429Cys)
17	g.72124143G>A	CA400868119	SOX9	c.1286G>A (p.Ser429Asn)	dbSNP
17	g.72124143G>C	CA400868120	SOX9	c.1286G>C (p.Ser429Thr)	dbSNP
17	g.72124143G>T	CA400868121	SOX9	c.1286G>T (p.Ser429Ile)	dbSNP
17	g.72124144C>A	CA8739136	SOX9	c.1287C>A (p.Ser429Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124144C=	CA2273926665	SOX9	c.1287C= (p.Ser429=)
17	g.72124144C>G	CA400868122	SOX9	c.1287C>G (p.Ser429Arg)
17	g.72124144C>T	CA8739135	SOX9	c.1287C>T (p.Ser429=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124145C>A	CA400868123	SOX9	c.1288C>A (p.Pro430Thr)	dbSNP
17	g.72124145C=	CA2273926666	SOX9	c.1288C= (p.Pro430=)
17	g.72124145C>G	CA400868124	SOX9	c.1288C>G (p.Pro430Ala)	dbSNP
17	g.72124145C>T	CA10603927	SOX9	c.1288C>T (p.Pro430Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72124146C>A	CA400868125	SOX9	c.1289C>A (p.Pro430His)	dbSNP
17	g.72124146C>G	CA400868127	SOX9	c.1289C>G (p.Pro430Arg)	dbSNP
17	g.72124146C>T	CA400868126	SOX9	c.1289C>T (p.Pro430Leu)	dbSNP
17	g.72124147C>A	CA501432931	SOX9	c.1290C>A (p.Pro430=)	dbSNP
17	g.72124147C>G	CA501432932	SOX9	c.1290C>G (p.Pro430=)	dbSNP
17	g.72124147C>T	CA501432933	SOX9	c.1290C>T (p.Pro430=)	dbSNP
17	g.72124148T>A	CA400868128	SOX9	c.1291T>A (p.Ser431Thr)	dbSNP
17	g.72124148T>C	CA400868129	SOX9	c.1291T>C (p.Ser431Pro)	dbSNP
17	g.72124148T>G	CA400868130	SOX9	c.1291T>G (p.Ser431Ala)
17	g.72124149C>A	CA400868131	SOX9	c.1292C>A (p.Ser431Tyr)
17	g.72124149C=	CA2273926667	SOX9	c.1292C= (p.Ser431=)
17	g.72124149C>G	CA400868132	SOX9	c.1292C>G (p.Ser431Cys)	dbSNP
17	g.72124149C>T	CA293784026	SOX9	c.1292C>T (p.Ser431Phe)	dbSNP gnomAD v4
17	g.72124151_72124155dup	CA645598842	SOX9	c.1294_1298dup (p.Pro434ThrfsTer?)	COSMIC
17	g.72124150C>A	CA501432934	SOX9	c.1293C>A (p.Ser431=)	dbSNP
17	g.72124150C>G	CA501432935	SOX9	c.1293C>G (p.Ser431=)
17	g.72124150C>T	CA501432936	SOX9	c.1293C>T (p.Ser431=)	dbSNP
17	g.72124151T>A	CA400868133	SOX9	c.1294T>A (p.Tyr432Asn)	dbSNP
17	g.72124151T>C	CA400868134	SOX9	c.1294T>C (p.Tyr432His)	dbSNP
17	g.72124151T>G	CA400868135	SOX9	c.1294T>G (p.Tyr432Asp)
17	g.72124151dup	CA501432937	SOX9	c.1294dup (p.Tyr432LeufsTer?)	COSMIC
17	g.72124152A=	CA2273926668	SOX9	c.1295A= (p.Tyr432=)
17	g.72124152A>C	CA400868136	SOX9	c.1295A>C (p.Tyr432Ser)
17	g.72124152A>G	CA400868137	SOX9	c.1295A>G (p.Tyr432Cys)
17	g.72124152A>T	CA400868138	SOX9	c.1295A>T (p.Tyr432Phe)	dbSNP
17	g.72124153C>A	CA400868139	SOX9	c.1296C>A (p.Tyr432Ter)
17	g.72124153C=	CA2273926669	SOX9	c.1296C= (p.Tyr432=)
17	g.72124153C>G	CA400868140	SOX9	c.1296C>G (p.Tyr432Ter)
17	g.72124153C>T	CA501432938	SOX9	c.1296C>T (p.Tyr432=)	dbSNP gnomAD v2 COSMIC
17	g.72124154C>A	CA400868141	SOX9	c.1297C>A (p.Pro433Thr)
17	g.72124154C>G	CA400868142	SOX9	c.1297C>G (p.Pro433Ala)
17	g.72124154C>T	CA400868143	SOX9	c.1297C>T (p.Pro433Ser)	gnomAD v4
17	g.72124155C>A	CA400868144	SOX9	c.1298C>A (p.Pro433Gln)	dbSNP
17	g.72124155C=	CA2273926670	SOX9	c.1298C= (p.Pro433=)
17	g.72124155C>G	CA400868145	SOX9	c.1298C>G (p.Pro433Arg)	dbSNP gnomAD v4
17	g.72124155C>T	CA400868146	SOX9	c.1298C>T (p.Pro433Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.72124156G>A	CA501432939	SOX9	c.1299G>A (p.Pro433=)
17	g.72124156G>C	CA501432940	SOX9	c.1299G>C (p.Pro433=)	gnomAD v4
17	g.72124156G=	CA2273926671	SOX9	c.1299G= (p.Pro433=)
17	g.72124156G>T	CA8739137	SOX9	c.1299G>T (p.Pro433=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124157C>A	CA400868147	SOX9	c.1300C>A (p.Pro434Thr)	dbSNP
17	g.72124157C>G	CA400868148	SOX9	c.1300C>G (p.Pro434Ala)	dbSNP
17	g.72124157C>T	CA400868149	SOX9	c.1300C>T (p.Pro434Ser)	dbSNP COSMIC
17	g.72124159del	CA645598843	SOX9	c.1302del (p.Ile435SerfsTer?)	COSMIC
17	g.72124158C>A	CA400868150	SOX9	c.1301C>A (p.Pro434His)	dbSNP
17	g.72124158C=	CA2273926672	SOX9	c.1301C= (p.Pro434=)
17	g.72124158C>G	CA400868151	SOX9	c.1301C>G (p.Pro434Arg)	dbSNP
17	g.72124158C>T	CA400868152	SOX9	c.1301C>T (p.Pro434Leu)	dbSNP gnomAD v4
17	g.72124159C>A	CA501432941	SOX9	c.1302C>A (p.Pro434=)	dbSNP COSMIC
17	g.72124159C=	CA2273926673	SOX9	c.1302C= (p.Pro434=)
17	g.72124159C>G	CA501432942	SOX9	c.1302C>G (p.Pro434=)
17	g.72124159C>T	CA501432943	SOX9	c.1302C>T (p.Pro434=)	dbSNP gnomAD v2 gnomAD v4
17	g.72124160A=	CA2273926674	SOX9	c.1303A= (p.Ile435=)
17	g.72124160A>C	CA400868153	SOX9	c.1303A>C (p.Ile435Leu)	dbSNP
17	g.72124160A>G	CA8739138	SOX9	c.1303A>G (p.Ile435Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124160A>T	CA400868154	SOX9	c.1303A>T (p.Ile435Phe)	dbSNP
17	g.72124161T>A	CA400868155	SOX9	c.1304T>A (p.Ile435Asn)	dbSNP
17	g.72124161T>C	CA400868156	SOX9	c.1304T>C (p.Ile435Thr)	dbSNP
17	g.72124161T>G	CA400868157	SOX9	c.1304T>G (p.Ile435Ser)
17	g.72124161_72124163delinsCCC	CA2573054565	SOX9	c.1304_1306delinsCCC (p.Ile435_Thr436delinsThrPro)	ClinVar dbSNP
17	g.72124162C>A	CA501432944	SOX9	c.1305C>A (p.Ile435=)	dbSNP
17	g.72124162C>G	CA400868158	SOX9	c.1305C>G (p.Ile435Met)	dbSNP
17	g.72124162C>T	CA501432945	SOX9	c.1305C>T (p.Ile435=)	dbSNP gnomAD v4
17	g.72124163A=	CA2273926675	SOX9	c.1306A= (p.Thr436=)
17	g.72124163A>C	CA400868159	SOX9	c.1306A>C (p.Thr436Pro)
17	g.72124163A>G	CA400868160	SOX9	c.1306A>G (p.Thr436Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.72124163A>T	CA400868161	SOX9	c.1306A>T (p.Thr436Ser)	dbSNP
17	g.72124164C>A	CA400868162	SOX9	c.1307C>A (p.Thr436Asn)
17	g.72124164C>G	CA400868163	SOX9	c.1307C>G (p.Thr436Ser)	dbSNP
17	g.72124164C>T	CA400868164	SOX9	c.1307C>T (p.Thr436Ile)	dbSNP gnomAD v4 COSMIC
17	g.72124165C>A	CA501432946	SOX9	c.1308C>A (p.Thr436=)	dbSNP
17	g.72124165C=	CA2273926676	SOX9	c.1308C= (p.Thr436=)
17	g.72124165C>G	CA501432947	SOX9	c.1308C>G (p.Thr436=)	dbSNP gnomAD v4
17	g.72124165C>T	CA501432948	SOX9	c.1308C>T (p.Thr436=)	dbSNP
17	g.72124166C>A	CA400868165	SOX9	c.1309C>A (p.Arg437Ser)	dbSNP
17	g.72124166C=	CA2273926677	SOX9	c.1309C= (p.Arg437=)
17	g.72124166C>G	CA400868166	SOX9	c.1309C>G (p.Arg437Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.72124166C>T	CA400868167	SOX9	c.1309C>T (p.Arg437Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72124167G>A	CA400868170	SOX9	c.1310G>A (p.Arg437His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124167G>C	CA400868168	SOX9	c.1310G>C (p.Arg437Pro)	dbSNP
17	g.72124167G=	CA2273926678	SOX9	c.1310G= (p.Arg437=)
17	g.72124167G>T	CA400868169	SOX9	c.1310G>T (p.Arg437Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.72124168C>A	CA501432949	SOX9	c.1311C>A (p.Arg437=)
17	g.72124168C=	CA2273926679	SOX9	c.1311C= (p.Arg437=)
17	g.72124168C>G	CA8739139	SOX9	c.1311C>G (p.Arg437=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124168C>T	CA501432950	SOX9	c.1311C>T (p.Arg437=)	dbSNP
17	g.72124168_72124187delinsCTCACAGTACGACTACACCG	CA2273926680	SOX9	c.1311_1330delinsCTCACAGTACGACTACACCG (p.Arg437=)
17	g.72124169T>A	CA400868171	SOX9	c.1312T>A (p.Ser438Thr)	dbSNP
17	g.72124169T>C	CA400868172	SOX9	c.1312T>C (p.Ser438Pro)	dbSNP
17	g.72124169T>G	CA400868173	SOX9	c.1312T>G (p.Ser438Ala)
17	g.72124169_72124187del	CA915952177	SOX9	c.1312_1330del (p.Ser438ThrfsTer26)	ClinVar dbSNP
17	g.72124170C>A	CA400868174	SOX9	c.1313C>A (p.Ser438Ter)	dbSNP
17	g.72124170C>G	CA400868175	SOX9	c.1313C>G (p.Ser438Ter)	dbSNP
17	g.72124170C>T	CA400868176	SOX9	c.1313C>T (p.Ser438Leu)	dbSNP
17	g.72124171del	CA645598844	SOX9	c.1314del (p.Gln439SerfsTer?)	COSMIC
17	g.72124171A=	CA2273926681	SOX9	c.1314A= (p.Ser438=)
17	g.72124171A>C	CA501432951	SOX9	c.1314A>C (p.Ser438=)	dbSNP
17	g.72124171A>G	CA501432952	SOX9	c.1314A>G (p.Ser438=)	dbSNP
17	g.72124171A>T	CA8739140	SOX9	c.1314A>T (p.Ser438=)	dbSNP ExAC gnomAD v2
17	g.72124172C>A	CA400868177	SOX9	c.1315C>A (p.Gln439Lys)
17	g.72124172C>G	CA400868178	SOX9	c.1315C>G (p.Gln439Glu)	dbSNP
17	g.72124172C>T	CA400868179	SOX9	c.1315C>T (p.Gln439Ter)	dbSNP
17	g.72124173A>C	CA400868180	SOX9	c.1316A>C (p.Gln439Pro)
17	g.72124173A>G	CA400868182	SOX9	c.1316A>G (p.Gln439Arg)	dbSNP gnomAD v4
17	g.72124173A>T	CA400868181	SOX9	c.1316A>T (p.Gln439Leu)	dbSNP
17	g.72124174G>A	CA501432954	SOX9	c.1317G>A (p.Gln439=)	dbSNP
17	g.72124174G>C	CA400868183	SOX9	c.1317G>C (p.Gln439His)	dbSNP
17	g.72124174G=	CA2273926682	SOX9	c.1317G= (p.Gln439=)
17	g.72124174G>T	CA400868184	SOX9	c.1317G>T (p.Gln439His)	gnomAD v4
17	g.72124174dup	CA501432953	SOX9	c.1317dup (p.Tyr440ValfsTer?)	COSMIC
17	g.72124175T>A	CA400868185	SOX9	c.1318T>A (p.Tyr440Asn)	dbSNP
17	g.72124175T>C	CA400868189	SOX9	c.1318T>C (p.Tyr440His)	dbSNP
17	g.72124175T>G	CA400868187	SOX9	c.1318T>G (p.Tyr440Asp)	dbSNP
17	g.72124176A>C	CA400868190	SOX9	c.1319A>C (p.Tyr440Ser)	dbSNP
17	g.72124176A>G	CA400868192	SOX9	c.1319A>G (p.Tyr440Cys)	dbSNP COSMIC
17	g.72124176A>T	CA400868191	SOX9	c.1319A>T (p.Tyr440Phe)	dbSNP gnomAD v4
17	g.72124178_72124180del	CA2639603213	SOX9	c.1321_1323del (p.Asp441del)	gnomAD v4
17	g.72124177C>A	CA341683	SOX9	c.1320C>A (p.Tyr440Ter)	ClinVar dbSNP
17	g.72124177C=	CA2273926683	SOX9	c.1320C= (p.Tyr440=)
17	g.72124177C>G	CA115583	SOX9	c.1320C>G (p.Tyr440Ter)	ClinVar dbSNP
17	g.72124177C>T	CA8739141	SOX9	c.1320C>T (p.Tyr440=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched