Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72124168_72124187delinsCTCACAGTACGACTACACCG	CA2273926680	SOX9	c.1311_1330delinsCTCACAGTACGACTACACCG (p.Arg437=)
17	g.72124169_72124187del	CA915952177	SOX9	c.1312_1330del (p.Ser438ThrfsTer26)	ClinVar dbSNP
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
17	g.72124178G>A	CA8739142	SOX9	c.1321G>A (p.Asp441Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124178G>C	CA400868193	SOX9	c.1321G>C (p.Asp441His)	dbSNP gnomAD v4
17	g.72124178G=	CA2273926684	SOX9	c.1321G= (p.Asp441=)
17	g.72124178G>T	CA400868194	SOX9	c.1321G>T (p.Asp441Tyr)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.72124179A=	CA2273926685	SOX9	c.1322A= (p.Asp441=)
17	g.72124179A>C	CA400868195	SOX9	c.1322A>C (p.Asp441Ala)	dbSNP
17	g.72124179A>G	CA8739143	SOX9	c.1322A>G (p.Asp441Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124179A>T	CA400868196	SOX9	c.1322A>T (p.Asp441Val)	dbSNP
17	g.72124180C>A	CA400868197	SOX9	c.1323C>A (p.Asp441Glu)
17	g.72124180C>G	CA400868198	SOX9	c.1323C>G (p.Asp441Glu)	dbSNP
17	g.72124180C>T	CA501432955	SOX9	c.1323C>T (p.Asp441=)	dbSNP
17	g.72124181T>A	CA400868201	SOX9	c.1324T>A (p.Tyr442Asn)
17	g.72124181T>C	CA400868200	SOX9	c.1324T>C (p.Tyr442His)
17	g.72124181T>G	CA400868199	SOX9	c.1324T>G (p.Tyr442Asp)
17	g.72124182A>C	CA400868202	SOX9	c.1325A>C (p.Tyr442Ser)	dbSNP
17	g.72124182A>G	CA400868203	SOX9	c.1325A>G (p.Tyr442Cys)	dbSNP gnomAD v4
17	g.72124182A>T	CA400868204	SOX9	c.1325A>T (p.Tyr442Phe)	dbSNP
17	g.72124183C>A	CA400868205	SOX9	c.1326C>A (p.Tyr442Ter)	dbSNP
17	g.72124183C>G	CA400868206	SOX9	c.1326C>G (p.Tyr442Ter)	dbSNP
17	g.72124183C>T	CA501432956	SOX9	c.1326C>T (p.Tyr442=)	dbSNP
17	g.72124184A>C	CA400868207	SOX9	c.1327A>C (p.Thr443Pro)	dbSNP
17	g.72124184A>G	CA400868208	SOX9	c.1327A>G (p.Thr443Ala)	dbSNP
17	g.72124184A>T	CA400868209	SOX9	c.1327A>T (p.Thr443Ser)	dbSNP
17	g.72124187_72124190del	CA2695226907	SOX9	c.1330_1333del (p.Asp444ThrfsTer25)
17	g.72124185C>A	CA400868210	SOX9	c.1328C>A (p.Thr443Asn)	dbSNP
17	g.72124185C>G	CA400868211	SOX9	c.1328C>G (p.Thr443Ser)	dbSNP
17	g.72124185C>T	CA400868212	SOX9	c.1328C>T (p.Thr443Ile)	dbSNP
17	g.72124186C>A	CA501432957	SOX9	c.1329C>A (p.Thr443=)	dbSNP
17	g.72124186C>G	CA501432958	SOX9	c.1329C>G (p.Thr443=)	dbSNP gnomAD v4
17	g.72124186C>T	CA501432959	SOX9	c.1329C>T (p.Thr443=)	dbSNP
17	g.72124187G>A	CA8739144	SOX9	c.1330G>A (p.Asp444Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.72124187G>C	CA400868214	SOX9	c.1330G>C (p.Asp444His)	dbSNP
17	g.72124187G=	CA2273926686	SOX9	c.1330G= (p.Asp444=)
17	g.72124187G>T	CA400868213	SOX9	c.1330G>T (p.Asp444Tyr)	dbSNP gnomAD v2 COSMIC
17	g.72124188A>C	CA400868215	SOX9	c.1331A>C (p.Asp444Ala)
17	g.72124188A>G	CA400868216	SOX9	c.1331A>G (p.Asp444Gly)
17	g.72124188A>T	CA400868217	SOX9	c.1331A>T (p.Asp444Val)
17	g.72124189C>A	CA400868218	SOX9	c.1332C>A (p.Asp444Glu)	dbSNP COSMIC
17	g.72124189C=	CA2273926687	SOX9	c.1332C= (p.Asp444=)
17	g.72124189C>G	CA400868219	SOX9	c.1332C>G (p.Asp444Glu)	dbSNP
17	g.72124189C>T	CA501432960	SOX9	c.1332C>T (p.Asp444=)	dbSNP gnomAD v4
17	g.72124190C>A	CA400868220	SOX9	c.1333C>A (p.His445Asn)	dbSNP
17	g.72124190C>G	CA400868221	SOX9	c.1333C>G (p.His445Asp)	dbSNP
17	g.72124190C>T	CA400868222	SOX9	c.1333C>T (p.His445Tyr)	dbSNP
17	g.72124191A>C	CA400868223	SOX9	c.1334A>C (p.His445Pro)
17	g.72124191A>G	CA400868224	SOX9	c.1334A>G (p.His445Arg)	gnomAD v4
17	g.72124191A>T	CA400868225	SOX9	c.1334A>T (p.His445Leu)	dbSNP
17	g.72124192C>A	CA400868226	SOX9	c.1335C>A (p.His445Gln)	dbSNP
17	g.72124192C>G	CA400868227	SOX9	c.1335C>G (p.His445Gln)	dbSNP
17	g.72124192C>T	CA501432961	SOX9	c.1335C>T (p.His445=)	dbSNP gnomAD v4 COSMIC
17	g.72124193C>A	CA400868230	SOX9	c.1336C>A (p.Gln446Lys)	dbSNP
17	g.72124193C>G	CA400868228	SOX9	c.1336C>G (p.Gln446Glu)	dbSNP
17	g.72124193C>T	CA400868229	SOX9	c.1336C>T (p.Gln446Ter)	dbSNP
17	g.72124194A=	CA2273926688	SOX9	c.1337A= (p.Gln446=)
17	g.72124194A>C	CA400868231	SOX9	c.1337A>C (p.Gln446Pro)
17	g.72124194A>G	CA293784102	SOX9	c.1337A>G (p.Gln446Arg)	dbSNP
17	g.72124194A>T	CA400868232	SOX9	c.1337A>T (p.Gln446Leu)	dbSNP
17	g.72124195G>A	CA8739145	SOX9	c.1338G>A (p.Gln446=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124195G>C	CA293784107	SOX9	c.1338G>C (p.Gln446His)	dbSNP
17	g.72124195G=	CA2273926689	SOX9	c.1338G= (p.Gln446=)
17	g.72124195G>T	CA400868233	SOX9	c.1338G>T (p.Gln446His)
17	g.72124196A>C	CA400868234	SOX9	c.1339A>C (p.Asn447His)	dbSNP
17	g.72124196A>G	CA400868235	SOX9	c.1339A>G (p.Asn447Asp)
17	g.72124196A>T	CA400868236	SOX9	c.1339A>T (p.Asn447Tyr)	dbSNP
17	g.72124197A>C	CA400868237	SOX9	c.1340A>C (p.Asn447Thr)	dbSNP
17	g.72124197A>G	CA400868238	SOX9	c.1340A>G (p.Asn447Ser)	dbSNP
17	g.72124197A>T	CA400868239	SOX9	c.1340A>T (p.Asn447Ile)	dbSNP
17	g.72124198C>A	CA400868240	SOX9	c.1341C>A (p.Asn447Lys)	dbSNP
17	g.72124198C>G	CA400868241	SOX9	c.1341C>G (p.Asn447Lys)	dbSNP gnomAD v4
17	g.72124198C>T	CA501432962	SOX9	c.1341C>T (p.Asn447=)	dbSNP
17	g.72124199T>A	CA400868242	SOX9	c.1342T>A (p.Ser448Thr)
17	g.72124199T>C	CA400868244	SOX9	c.1342T>C (p.Ser448Pro)
17	g.72124199T>G	CA400868243	SOX9	c.1342T>G (p.Ser448Ala)
17	g.72124200C>A	CA400868245	SOX9	c.1343C>A (p.Ser448Tyr)
17	g.72124200C>G	CA400868246	SOX9	c.1343C>G (p.Ser448Cys)
17	g.72124200C>T	CA400868247	SOX9	c.1343C>T (p.Ser448Phe)
17	g.72124201C>A	CA501432963	SOX9	c.1344C>A (p.Ser448=)	dbSNP
17	g.72124201C>G	CA501432965	SOX9	c.1344C>G (p.Ser448=)	dbSNP
17	g.72124201C>T	CA501432964	SOX9	c.1344C>T (p.Ser448=)	dbSNP gnomAD v4 COSMIC
17	g.72124202A>C	CA400868248	SOX9	c.1345A>C (p.Ser449Arg)
17	g.72124202A>G	CA400868249	SOX9	c.1345A>G (p.Ser449Gly)	dbSNP
17	g.72124202A>T	CA400868250	SOX9	c.1345A>T (p.Ser449Cys)	dbSNP
17	g.72124203G>A	CA400868251	SOX9	c.1346G>A (p.Ser449Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.72124203G>C	CA400868252	SOX9	c.1346G>C (p.Ser449Thr)	dbSNP gnomAD v4
17	g.72124203G=	CA2273926690	SOX9	c.1346G= (p.Ser449=)
17	g.72124203G>T	CA400868253	SOX9	c.1346G>T (p.Ser449Ile)	dbSNP
17	g.72124204C>A	CA400868254	SOX9	c.1347C>A (p.Ser449Arg)	dbSNP
17	g.72124204C>G	CA400868255	SOX9	c.1347C>G (p.Ser449Arg)	dbSNP
17	g.72124204C>T	CA501432966	SOX9	c.1347C>T (p.Ser449=)	dbSNP
17	g.72124205T>A	CA400868258	SOX9	c.1348T>A (p.Ser450Thr)	dbSNP
17	g.72124205T>C	CA400868256	SOX9	c.1348T>C (p.Ser450Pro)	dbSNP
17	g.72124205T>G	CA400868257	SOX9	c.1348T>G (p.Ser450Ala)
17	g.72124206C>A	CA400868259	SOX9	c.1349C>A (p.Ser450Tyr)
17	g.72124206C=	CA2273926691	SOX9	c.1349C= (p.Ser450=)
17	g.72124206C>G	CA8739146	SOX9	c.1349C>G (p.Ser450Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124206C>T	CA400868260	SOX9	c.1349C>T (p.Ser450Phe)	dbSNP
17	g.72124206_72124207delinsTT	CA645598846	SOX9	c.1349_1350delinsTT (p.Ser450Phe)	COSMIC
17	g.72124207del	CA645598845	SOX9	c.1350del (p.Tyr451ThrfsTer19)	COSMIC
17	g.72124208_72124217del	CA2739268349	SOX9	c.1351_1360del (p.Tyr451ThrfsTer16)	ClinVar
17	g.72124207C>A	CA501432967	SOX9	c.1350C>A (p.Ser450=)	dbSNP
17	g.72124207C>G	CA501432968	SOX9	c.1350C>G (p.Ser450=)	dbSNP
17	g.72124207C>T	CA501432969	SOX9	c.1350C>T (p.Ser450=)	dbSNP
17	g.72124208T>A	CA400868261	SOX9	c.1351T>A (p.Tyr451Asn)	dbSNP
17	g.72124208T>C	CA400868262	SOX9	c.1351T>C (p.Tyr451His)
17	g.72124208T>G	CA400868263	SOX9	c.1351T>G (p.Tyr451Asp)
17	g.72124209A=	CA2273926692	SOX9	c.1352A= (p.Tyr451=)
17	g.72124209A>C	CA400868264	SOX9	c.1352A>C (p.Tyr451Ser)	dbSNP
17	g.72124209A>G	CA400868265	SOX9	c.1352A>G (p.Tyr451Cys)	dbSNP
17	g.72124209A>T	CA400868266	SOX9	c.1352A>T (p.Tyr451Phe)	dbSNP
17	g.72124210C>A	CA400868267	SOX9	c.1353C>A (p.Tyr451Ter)	ClinVar dbSNP
17	g.72124210C>G	CA400868268	SOX9	c.1353C>G (p.Tyr451Ter)	dbSNP
17	g.72124210C>T	CA501432970	SOX9	c.1353C>T (p.Tyr451=)	dbSNP COSMIC
17	g.72124211T>A	CA400868270	SOX9	c.1354T>A (p.Tyr452Asn)	dbSNP
17	g.72124211T>C	CA400868271	SOX9	c.1354T>C (p.Tyr452His)	dbSNP
17	g.72124211T>G	CA400868269	SOX9	c.1354T>G (p.Tyr452Asp)
17	g.72124212A>C	CA400868272	SOX9	c.1355A>C (p.Tyr452Ser)	dbSNP
17	g.72124212A>G	CA400868273	SOX9	c.1355A>G (p.Tyr452Cys)	dbSNP
17	g.72124212A>T	CA400868274	SOX9	c.1355A>T (p.Tyr452Phe)	dbSNP
17	g.72124213C>A	CA400868275	SOX9	c.1356C>A (p.Tyr452Ter)	dbSNP
17	g.72124213C>G	CA400868276	SOX9	c.1356C>G (p.Tyr452Ter)	dbSNP
17	g.72124213C>T	CA501432971	SOX9	c.1356C>T (p.Tyr452=)	dbSNP
17	g.72124214A>C	CA400868277	SOX9	c.1357A>C (p.Ser453Arg)
17	g.72124214A>G	CA400868278	SOX9	c.1357A>G (p.Ser453Gly)
17	g.72124214A>T	CA400868279	SOX9	c.1357A>T (p.Ser453Cys)	dbSNP
17	g.72124215G>A	CA8739147	SOX9	c.1358G>A (p.Ser453Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124215G>C	CA400868280	SOX9	c.1358G>C (p.Ser453Thr)
17	g.72124215G=	CA2273926693	SOX9	c.1358G= (p.Ser453=)
17	g.72124215G>T	CA400868281	SOX9	c.1358G>T (p.Ser453Ile)
17	g.72124216C>A	CA400868282	SOX9	c.1359C>A (p.Ser453Arg)	dbSNP
17	g.72124216C>G	CA400868283	SOX9	c.1359C>G (p.Ser453Arg)	dbSNP
17	g.72124216C>T	CA501432972	SOX9	c.1359C>T (p.Ser453=)	dbSNP
17	g.72124217C>A	CA400868286	SOX9	c.1360C>A (p.His454Asn)	dbSNP
17	g.72124217C>G	CA400868285	SOX9	c.1360C>G (p.His454Asp)	dbSNP
17	g.72124217C>T	CA400868284	SOX9	c.1360C>T (p.His454Tyr)	dbSNP
17	g.72124218A>C	CA400868287	SOX9	c.1361A>C (p.His454Pro)	dbSNP
17	g.72124218A>G	CA400868288	SOX9	c.1361A>G (p.His454Arg)
17	g.72124218A>T	CA400868289	SOX9	c.1361A>T (p.His454Leu)	dbSNP gnomAD v4
17	g.72124219C>A	CA400868290	SOX9	c.1362C>A (p.His454Gln)	dbSNP
17	g.72124219C=	CA2273926694	SOX9	c.1362C= (p.His454=)
17	g.72124219C>G	CA400868291	SOX9	c.1362C>G (p.His454Gln)	dbSNP
17	g.72124219C>T	CA8739148	SOX9	c.1362C>T (p.His454=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124220G>A	CA400868292	SOX9	c.1363G>A (p.Ala455Thr)	dbSNP
17	g.72124220G>C	CA8739149	SOX9	c.1363G>C (p.Ala455Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124220G=	CA2273926695	SOX9	c.1363G= (p.Ala455=)
17	g.72124220G>T	CA400868293	SOX9	c.1363G>T (p.Ala455Ser)	dbSNP
17	g.72124221C>A	CA400868294	SOX9	c.1364C>A (p.Ala455Glu)
17	g.72124221C=	CA2273926696	SOX9	c.1364C= (p.Ala455=)
17	g.72124221C>G	CA400868295	SOX9	c.1364C>G (p.Ala455Gly)	dbSNP
17	g.72124221C>T	CA400868296	SOX9	c.1364C>T (p.Ala455Val)	dbSNP gnomAD v3 gnomAD v4
17	g.72124222G>A	CA293784118	SOX9	c.1365G>A (p.Ala455=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124222G>C	CA501432974	SOX9	c.1365G>C (p.Ala455=)	dbSNP
17	g.72124222G=	CA2273926697	SOX9	c.1365G= (p.Ala455=)
17	g.72124222G>T	CA501432973	SOX9	c.1365G>T (p.Ala455=)	dbSNP gnomAD v3 gnomAD v4
17	g.72124223G>A	CA400868299	SOX9	c.1366G>A (p.Ala456Thr)	dbSNP
17	g.72124223G>C	CA400868298	SOX9	c.1366G>C (p.Ala456Pro)	dbSNP
17	g.72124223G>T	CA400868297	SOX9	c.1366G>T (p.Ala456Ser)	dbSNP
17	g.72124224C>A	CA400868300	SOX9	c.1367C>A (p.Ala456Glu)	dbSNP
17	g.72124224C=	CA2273926698	SOX9	c.1367C= (p.Ala456=)
17	g.72124224C>G	CA400868301	SOX9	c.1367C>G (p.Ala456Gly)	dbSNP
17	g.72124224C>T	CA8739150	SOX9	c.1367C>T (p.Ala456Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124225A=	CA2273926699	SOX9	c.1368A= (p.Ala456=)
17	g.72124225A>C	CA501432975	SOX9	c.1368A>C (p.Ala456=)	dbSNP
17	g.72124225A>G	CA501432976	SOX9	c.1368A>G (p.Ala456=)	dbSNP
17	g.72124225A>T	CA501432977	SOX9	c.1368A>T (p.Ala456=)	dbSNP
17	g.72124226G>A	CA8739151	SOX9	c.1369G>A (p.Gly457Ser)	dbSNP ExAC gnomAD v2
17	g.72124226G>C	CA400868302	SOX9	c.1369G>C (p.Gly457Arg)	dbSNP
17	g.72124226G=	CA2273926700	SOX9	c.1369G= (p.Gly457=)
17	g.72124226G>T	CA400868303	SOX9	c.1369G>T (p.Gly457Cys)
17	g.72124227G>A	CA8739152	SOX9	c.1370G>A (p.Gly457Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124227G>C	CA400868304	SOX9	c.1370G>C (p.Gly457Ala)	dbSNP
17	g.72124227G=	CA2273926701	SOX9	c.1370G= (p.Gly457=)
17	g.72124227G>T	CA400868305	SOX9	c.1370G>T (p.Gly457Val)
17	g.72124228C>A	CA501432978	SOX9	c.1371C>A (p.Gly457=)	dbSNP
17	g.72124228C=	CA2273926702	SOX9	c.1371C= (p.Gly457=)
17	g.72124228C>G	CA501432979	SOX9	c.1371C>G (p.Gly457=)	dbSNP gnomAD v2 gnomAD v4
17	g.72124228C>T	CA501432980	SOX9	c.1371C>T (p.Gly457=)	dbSNP
17	g.72124229dup	CA645598847	SOX9	c.1372dup (p.Gln458ProfsTer?)	COSMIC
17	g.72124229del	CA2695226908	SOX9	c.1372del (p.Gln458ArgfsTer12)
17	g.72124229C>A	CA400868306	SOX9	c.1372C>A (p.Gln458Lys)	gnomAD v4
17	g.72124229C=	CA2273926703	SOX9	c.1372C= (p.Gln458=)
17	g.72124229C>G	CA400868307	SOX9	c.1372C>G (p.Gln458Glu)	dbSNP
17	g.72124229C>T	CA400868308	SOX9	c.1372C>T (p.Gln458Ter)	ClinVar dbSNP
17	g.72124230A>C	CA400868309	SOX9	c.1373A>C (p.Gln458Pro)
17	g.72124230A>G	CA400868310	SOX9	c.1373A>G (p.Gln458Arg)
17	g.72124230A>T	CA400868311	SOX9	c.1373A>T (p.Gln458Leu)
17	g.72124231G>A	CA8739153	SOX9	c.1374G>A (p.Gln458=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72124231G>C	CA400868313	SOX9	c.1374G>C (p.Gln458His)	dbSNP gnomAD v4
17	g.72124231G=	CA2273926704	SOX9	c.1374G= (p.Gln458=)
17	g.72124231G>T	CA400868312	SOX9	c.1374G>T (p.Gln458His)	dbSNP
17	g.72124232G>A	CA400868314	SOX9	c.1375G>A (p.Gly459Ser)	dbSNP gnomAD v4 COSMIC
17	g.72124232G>C	CA400868315	SOX9	c.1375G>C (p.Gly459Arg)	dbSNP
17	g.72124232G=	CA2273926705	SOX9	c.1375G= (p.Gly459=)
17	g.72124232G>T	CA400868316	SOX9	c.1375G>T (p.Gly459Cys)
17	g.72124233G>A	CA400868317	SOX9	c.1376G>A (p.Gly459Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.72124233G>C	CA400868318	SOX9	c.1376G>C (p.Gly459Ala)	dbSNP
17	g.72124233G=	CA2273926706	SOX9	c.1376G= (p.Gly459=)
17	g.72124233G>T	CA400868319	SOX9	c.1376G>T (p.Gly459Val)	COSMIC
17	g.72124234C>A	CA501432981	SOX9	c.1377C>A (p.Gly459=)	dbSNP
17	g.72124234C=	CA2273926707	SOX9	c.1377C= (p.Gly459=)
17	g.72124234C>G	CA501432982	SOX9	c.1377C>G (p.Gly459=)	dbSNP
17	g.72124234C>T	CA8739154	SOX9	c.1377C>T (p.Gly459=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124234_72124235insGG	CA2520611011	SOX9	c.1377_1378insGG (p.Thr460GlyfsTer11)
17	g.72124235A>C	CA400868320	SOX9	c.1378A>C (p.Thr460Pro)	dbSNP
17	g.72124235A>G	CA400868321	SOX9	c.1378A>G (p.Thr460Ala)	dbSNP
17	g.72124235A>T	CA400868322	SOX9	c.1378A>T (p.Thr460Ser)	dbSNP
17	g.72124236C>A	CA400868323	SOX9	c.1379C>A (p.Thr460Asn)
17	g.72124236C=	CA2273926708	SOX9	c.1379C= (p.Thr460=)
17	g.72124236C>G	CA400868324	SOX9	c.1379C>G (p.Thr460Ser)	dbSNP
17	g.72124236C>T	CA400868325	SOX9	c.1379C>T (p.Thr460Ile)	dbSNP
17	g.72124236_72124237del	CA2507651961	SOX9	c.1379_1380del (p.Thr460ArgfsTer?)
17	g.72124236_72124237dup	CA2580095103	SOX9	c.1379_1380dup (p.Gly461ProfsTer10)	ClinVar dbSNP
17	g.72124237C>A	CA501432983	SOX9	c.1380C>A (p.Thr460=)
17	g.72124237C=	CA2273926709	SOX9	c.1380C= (p.Thr460=)
17	g.72124237C>G	CA501432984	SOX9	c.1380C>G (p.Thr460=)	dbSNP
17	g.72124237C>T	CA293784159	SOX9	c.1380C>T (p.Thr460=)	dbSNP gnomAD v3 gnomAD v4
17	g.72124238G>A	CA8739155	SOX9	c.1381G>A (p.Gly461Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124238G>C	CA400868327	SOX9	c.1381G>C (p.Gly461Arg)	dbSNP
17	g.72124238G=	CA2273926710	SOX9	c.1381G= (p.Gly461=)
17	g.72124238G>T	CA400868326	SOX9	c.1381G>T (p.Gly461Cys)	dbSNP
17	g.72124239G>A	CA400868328	SOX9	c.1382G>A (p.Gly461Asp)	dbSNP
17	g.72124239G>C	CA400868329	SOX9	c.1382G>C (p.Gly461Ala)	dbSNP
17	g.72124239G>T	CA400868330	SOX9	c.1382G>T (p.Gly461Val)	dbSNP
17	g.72124240C>A	CA501432985	SOX9	c.1383C>A (p.Gly461=)
17	g.72124240C>G	CA501432986	SOX9	c.1383C>G (p.Gly461=)
17	g.72124240C>T	CA501432987	SOX9	c.1383C>T (p.Gly461=)
17	g.72124241C>A	CA400868331	SOX9	c.1384C>A (p.Leu462Ile)	dbSNP
17	g.72124241C>G	CA400868332	SOX9	c.1384C>G (p.Leu462Val)	dbSNP
17	g.72124241C>T	CA400868333	SOX9	c.1384C>T (p.Leu462Phe)	dbSNP gnomAD v4
17	g.72124242T>A	CA400868334	SOX9	c.1385T>A (p.Leu462His)	dbSNP
17	g.72124242T>C	CA400868335	SOX9	c.1385T>C (p.Leu462Pro)	dbSNP
17	g.72124242T>G	CA400868336	SOX9	c.1385T>G (p.Leu462Arg)
17	g.72124243C>A	CA501432988	SOX9	c.1386C>A (p.Leu462=)	dbSNP
17	g.72124243C>G	CA501432989	SOX9	c.1386C>G (p.Leu462=)	dbSNP
17	g.72124243C>T	CA501432990	SOX9	c.1386C>T (p.Leu462=)	dbSNP gnomAD v4
17	g.72124244T>A	CA400868337	SOX9	c.1387T>A (p.Tyr463Asn)	dbSNP
17	g.72124244T>C	CA400868338	SOX9	c.1387T>C (p.Tyr463His)	dbSNP gnomAD v4
17	g.72124244T>G	CA400868339	SOX9	c.1387T>G (p.Tyr463Asp)
17	g.72124245A>C	CA400868342	SOX9	c.1388A>C (p.Tyr463Ser)	dbSNP
17	g.72124245A>G	CA400868340	SOX9	c.1388A>G (p.Tyr463Cys)
17	g.72124245A>T	CA400868341	SOX9	c.1388A>T (p.Tyr463Phe)
17	g.72124246C>A	CA400868343	SOX9	c.1389C>A (p.Tyr463Ter)
17	g.72124246C>G	CA400868344	SOX9	c.1389C>G (p.Tyr463Ter)	dbSNP COSMIC
17	g.72124246C>T	CA501432992	SOX9	c.1389C>T (p.Tyr463=)	dbSNP
17	g.72124247T>A	CA400868345	SOX9	c.1390T>A (p.Ser464Thr)	dbSNP
17	g.72124247T>C	CA400868346	SOX9	c.1390T>C (p.Ser464Pro)
17	g.72124247T>G	CA400868347	SOX9	c.1390T>G (p.Ser464Ala)
17	g.72124248C>A	CA400868348	SOX9	c.1391C>A (p.Ser464Tyr)	dbSNP
17	g.72124248C>G	CA400868349	SOX9	c.1391C>G (p.Ser464Cys)	dbSNP
17	g.72124248C>T	CA400868350	SOX9	c.1391C>T (p.Ser464Phe)	dbSNP gnomAD v4
17	g.72124249C>A	CA501432994	SOX9	c.1392C>A (p.Ser464=)	dbSNP
17	g.72124249C>G	CA501432996	SOX9	c.1392C>G (p.Ser464=)	dbSNP
17	g.72124249C>T	CA501432995	SOX9	c.1392C>T (p.Ser464=)	dbSNP COSMIC
17	g.72124250A>C	CA400868351	SOX9	c.1393A>C (p.Thr465Pro)	dbSNP
17	g.72124250A>G	CA400868352	SOX9	c.1393A>G (p.Thr465Ala)	dbSNP
17	g.72124250A>T	CA400868353	SOX9	c.1393A>T (p.Thr465Ser)	dbSNP
17	g.72124251C>A	CA400868355	SOX9	c.1394C>A (p.Thr465Asn)
17	g.72124251C>G	CA400868356	SOX9	c.1394C>G (p.Thr465Ser)	ClinVar dbSNP gnomAD v4
17	g.72124251C>T	CA400868354	SOX9	c.1394C>T (p.Thr465Ile)	dbSNP gnomAD v4
17	g.72124252C>A	CA501352106	SOX9	c.1395C>A (p.Thr465=)
17	g.72124252C>G	CA501352107	SOX9	c.1395C>G (p.Thr465=)	COSMIC
17	g.72124252C>T	CA501352108	SOX9	c.1395C>T (p.Thr465=)	gnomAD v4
17	g.72124253T>A	CA400868359	SOX9	c.1396T>A (p.Phe466Ile)	dbSNP
17	g.72124253T>C	CA400868357	SOX9	c.1396T>C (p.Phe466Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.72124253T>G	CA400868358	SOX9	c.1396T>G (p.Phe466Val)
17	g.72124253T=	CA2273926711	SOX9	c.1396T= (p.Phe466=)
17	g.72124254T>A	CA400868360	SOX9	c.1397T>A (p.Phe466Tyr)	dbSNP
17	g.72124254T>C	CA400868361	SOX9	c.1397T>C (p.Phe466Ser)	dbSNP
17	g.72124254T>G	CA400868362	SOX9	c.1397T>G (p.Phe466Cys)
17	g.72124255C>A	CA400868363	SOX9	c.1398C>A (p.Phe466Leu)
17	g.72124255C>G	CA400868364	SOX9	c.1398C>G (p.Phe466Leu)	dbSNP
17	g.72124255C>T	CA501352109	SOX9	c.1398C>T (p.Phe466=)	dbSNP
17	g.72124256A=	CA2273926712	SOX9	c.1399A= (p.Thr467=)
17	g.72124256A>C	CA400868365	SOX9	c.1399A>C (p.Thr467Pro)	dbSNP
17	g.72124256A>G	CA400868366	SOX9	c.1399A>G (p.Thr467Ala)	dbSNP
17	g.72124256A>T	CA400868367	SOX9	c.1399A>T (p.Thr467Ser)	dbSNP
17	g.72124257C>A	CA400868368	SOX9	c.1400C>A (p.Thr467Asn)	dbSNP
17	g.72124257C=	CA2273926713	SOX9	c.1400C= (p.Thr467=)
17	g.72124257C>G	CA400868369	SOX9	c.1400C>G (p.Thr467Ser)	dbSNP
17	g.72124257C>T	CA400868370	SOX9	c.1400C>T (p.Thr467Ile)	dbSNP gnomAD v2
17	g.72124258C>A	CA501352110	SOX9	c.1401C>A (p.Thr467=)	ClinVar dbSNP
17	g.72124258C=	CA2273926714	SOX9	c.1401C= (p.Thr467=)
17	g.72124258C>G	CA501352111	SOX9	c.1401C>G (p.Thr467=)	dbSNP
17	g.72124258C>T	CA501352112	SOX9	c.1401C>T (p.Thr467=)	dbSNP
17	g.72124259T>A	CA400868371	SOX9	c.1402T>A (p.Tyr468Asn)	dbSNP
17	g.72124259T>C	CA400868373	SOX9	c.1402T>C (p.Tyr468His)	dbSNP
17	g.72124259T>G	CA400868372	SOX9	c.1402T>G (p.Tyr468Asp)
17	g.72124260A>C	CA400868374	SOX9	c.1403A>C (p.Tyr468Ser)	dbSNP gnomAD v4
17	g.72124260A>G	CA400868375	SOX9	c.1403A>G (p.Tyr468Cys)
17	g.72124260A>T	CA400868376	SOX9	c.1403A>T (p.Tyr468Phe)	dbSNP
17	g.72124261C>A	CA400868377	SOX9	c.1404C>A (p.Tyr468Ter)	dbSNP
17	g.72124261C>G	CA400868378	SOX9	c.1404C>G (p.Tyr468Ter)	dbSNP
17	g.72124261C>T	CA501352113	SOX9	c.1404C>T (p.Tyr468=)	dbSNP
17	g.72124262A=	CA2273926715	SOX9	c.1405A= (p.Met469=)
17	g.72124262A>C	CA400868379	SOX9	c.1405A>C (p.Met469Leu)	dbSNP gnomAD v4
17	g.72124262A>G	CA8739156	SOX9	c.1405A>G (p.Met469Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124262A>T	CA400868380	SOX9	c.1405A>T (p.Met469Leu)
17	g.72124263T>A	CA400868381	SOX9	c.1406T>A (p.Met469Lys)	dbSNP
17	g.72124263T>C	CA400868382	SOX9	c.1406T>C (p.Met469Thr)	dbSNP
17	g.72124263T>G	CA400868383	SOX9	c.1406T>G (p.Met469Arg)
17	g.72124264G>A	CA400868385	SOX9	c.1407G>A (p.Met469Ile)	dbSNP gnomAD v4 COSMIC
17	g.72124264G>C	CA400868386	SOX9	c.1407G>C (p.Met469Ile)	dbSNP
17	g.72124264G>T	CA400868384	SOX9	c.1407G>T (p.Met469Ile)
17	g.72124265A>C	CA400868387	SOX9	c.1408A>C (p.Asn470His)	dbSNP
17	g.72124265A>G	CA400868388	SOX9	c.1408A>G (p.Asn470Asp)	dbSNP
17	g.72124265A>T	CA400868389	SOX9	c.1408A>T (p.Asn470Tyr)	dbSNP
17	g.72124266A>C	CA400868390	SOX9	c.1409A>C (p.Asn470Thr)	gnomAD v3 gnomAD v4
17	g.72124266A>G	CA400868391	SOX9	c.1409A>G (p.Asn470Ser)	dbSNP
17	g.72124266A>T	CA400868392	SOX9	c.1409A>T (p.Asn470Ile)
17	g.72124267C>A	CA400868393	SOX9	c.1410C>A (p.Asn470Lys)	dbSNP
17	g.72124267C>G	CA400868394	SOX9	c.1410C>G (p.Asn470Lys)	dbSNP
17	g.72124267C>T	CA501352119	SOX9	c.1410C>T (p.Asn470=)	dbSNP
17	g.72124268C>A	CA400868395	SOX9	c.1411C>A (p.Pro471Thr)	dbSNP
17	g.72124268C=	CA2273926716	SOX9	c.1411C= (p.Pro471=)
17	g.72124268C>G	CA400868396	SOX9	c.1411C>G (p.Pro471Ala)	dbSNP
17	g.72124268C>T	CA400868397	SOX9	c.1411C>T (p.Pro471Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.72124269C>A	CA400868398	SOX9	c.1412C>A (p.Pro471His)	dbSNP
17	g.72124269C>G	CA400868399	SOX9	c.1412C>G (p.Pro471Arg)	dbSNP
17	g.72124269C>T	CA400868400	SOX9	c.1412C>T (p.Pro471Leu)	dbSNP gnomAD v4
17	g.72124270C>A	CA501352121	SOX9	c.1413C>A (p.Pro471=)	dbSNP
17	g.72124270C=	CA2273926717	SOX9	c.1413C= (p.Pro471=)
17	g.72124270C>G	CA501352120	SOX9	c.1413C>G (p.Pro471=)	dbSNP
17	g.72124270C>T	CA8739157	SOX9	c.1413C>T (p.Pro471=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124271G>A	CA400868401	SOX9	c.1414G>A (p.Ala472Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.72124271G>C	CA400868402	SOX9	c.1414G>C (p.Ala472Pro)	dbSNP
17	g.72124271G=	CA2273926718	SOX9	c.1414G= (p.Ala472=)
17	g.72124271G>T	CA400868403	SOX9	c.1414G>T (p.Ala472Ser)	dbSNP gnomAD v4
17	g.72124272C>A	CA400868404	SOX9	c.1415C>A (p.Ala472Asp)
17	g.72124272C=	CA2273926719	SOX9	c.1415C= (p.Ala472=)
17	g.72124272C>G	CA400868405	SOX9	c.1415C>G (p.Ala472Gly)	dbSNP
17	g.72124272C>T	CA8739158	SOX9	c.1415C>T (p.Ala472Val)	dbSNP ExAC gnomAD v4
17	g.72124273T>A	CA501352122	SOX9	c.1416T>A (p.Ala472=)	dbSNP
17	g.72124273T>C	CA501352123	SOX9	c.1416T>C (p.Ala472=)	dbSNP
17	g.72124273T>G	CA501352124	SOX9	c.1416T>G (p.Ala472=)
17	g.72124274C>A	CA400868406	SOX9	c.1417C>A (p.Gln473Lys)	dbSNP
17	g.72124274C>G	CA400868407	SOX9	c.1417C>G (p.Gln473Glu)	dbSNP
17	g.72124274C>T	CA400868408	SOX9	c.1417C>T (p.Gln473Ter)	dbSNP
17	g.72124275A=	CA2273926720	SOX9	c.1418A= (p.Gln473=)
17	g.72124275A>C	CA400868409	SOX9	c.1418A>C (p.Gln473Pro)	dbSNP
17	g.72124275A>G	CA16620598	SOX9	c.1418A>G (p.Gln473Arg)	ClinVar dbSNP COSMIC
17	g.72124275A>T	CA400868410	SOX9	c.1418A>T (p.Gln473Leu)	dbSNP
17	g.72124276G>A	CA8739159	SOX9	c.1419G>A (p.Gln473=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72124276G>C	CA400868411	SOX9	c.1419G>C (p.Gln473His)
17	g.72124276G=	CA2273926721	SOX9	c.1419G= (p.Gln473=)
17	g.72124276G>T	CA293784227	SOX9	c.1419G>T (p.Gln473His)	dbSNP gnomAD v3 gnomAD v4
17	g.72124277C>A	CA400868413	SOX9	c.1420C>A (p.Arg474Ser)	dbSNP
17	g.72124277C>G	CA400868414	SOX9	c.1420C>G (p.Arg474Gly)	dbSNP
17	g.72124277C>T	CA400868412	SOX9	c.1420C>T (p.Arg474Cys)	dbSNP gnomAD v4 COSMIC

Number of alleles fetched