Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72122762_72122772del	CA1139665859	SOX9	c.475_485del (p.Glu159ArgfsTer?)	ClinVar dbSNP
17	g.72122772G>A	CA8738931	SOX9	c.485G>A (p.Arg162His)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122772G>C	CA400866395	SOX9	c.485G>C (p.Arg162Pro)	dbSNP
17	g.72122772G=	CA2273925894	SOX9	c.485G= (p.Arg162=)
17	g.72122772G>T	CA400866396	SOX9	c.485G>T (p.Arg162Leu)
17	g.72122773C>A	CA501432570	SOX9	c.486C>A (p.Arg162=)	dbSNP gnomAD v4
17	g.72122773C=	CA2273925895	SOX9	c.486C= (p.Arg162=)
17	g.72122773C>G	CA501432571	SOX9	c.486C>G (p.Arg162=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122773C>T	CA501432572	SOX9	c.486C>T (p.Arg162=)	dbSNP
17	g.72122774G>A	CA400866397	SOX9	c.487G>A (p.Val163Met)	dbSNP gnomAD v2 gnomAD v4
17	g.72122774G>C	CA400866398	SOX9	c.487G>C (p.Val163Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122774G=	CA2273925896	SOX9	c.487G= (p.Val163=)
17	g.72122774G>T	CA400866399	SOX9	c.487G>T (p.Val163Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.72122775_72122776dup	CA645598902	SOX9	c.488_489dup (p.Gln164CysfsTer20)	COSMIC
17	g.72122775T>A	CA400866400	SOX9	c.488T>A (p.Val163Glu)	dbSNP
17	g.72122775T>C	CA400866401	SOX9	c.488T>C (p.Val163Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122775T>G	CA400866402	SOX9	c.488T>G (p.Val163Gly)	dbSNP
17	g.72122775T=	CA2273925897	SOX9	c.488T= (p.Val163=)
17	g.72122776G>A	CA501432573	SOX9	c.489G>A (p.Val163=)	dbSNP gnomAD v4
17	g.72122776G>C	CA501432574	SOX9	c.489G>C (p.Val163=)	dbSNP
17	g.72122776G>T	CA501432575	SOX9	c.489G>T (p.Val163=)
17	g.72122777C>A	CA400866403	SOX9	c.490C>A (p.Gln164Lys)	dbSNP gnomAD v4
17	g.72122777C>G	CA400866404	SOX9	c.490C>G (p.Gln164Glu)	dbSNP
17	g.72122777C>T	CA400866405	SOX9	c.490C>T (p.Gln164Ter)	dbSNP
17	g.72122778A=	CA2273925898	SOX9	c.491A= (p.Gln164=)
17	g.72122778A>C	CA400866407	SOX9	c.491A>C (p.Gln164Pro)	ClinVar dbSNP
17	g.72122778A>G	CA400866408	SOX9	c.491A>G (p.Gln164Arg)	dbSNP
17	g.72122778A>T	CA400866409	SOX9	c.491A>T (p.Gln164Leu)	dbSNP
17	g.72122779G>A	CA501432576	SOX9	c.492G>A (p.Gln164=)	dbSNP gnomAD v2 gnomAD v4
17	g.72122779G>C	CA400866411	SOX9	c.492G>C (p.Gln164His)
17	g.72122779G=	CA2273925899	SOX9	c.492G= (p.Gln164=)
17	g.72122779G>T	CA400866410	SOX9	c.492G>T (p.Gln164His)
17	g.72122780C>A	CA400866412	SOX9	c.493C>A (p.His165Asn)
17	g.72122780C=	CA2273925900	SOX9	c.493C= (p.His165=)
17	g.72122780C>G	CA400866413	SOX9	c.493C>G (p.His165Asp)	dbSNP
17	g.72122780C>T	CA115586	SOX9	c.493C>T (p.His165Tyr)	ClinVar dbSNP
17	g.72122781A=	CA2273925901	SOX9	c.494A= (p.His165=)
17	g.72122781A>C	CA400866414	SOX9	c.494A>C (p.His165Pro)	dbSNP
17	g.72122781A>G	CA400866416	SOX9	c.494A>G (p.His165Arg)	ClinVar dbSNP COSMIC
17	g.72122781A>T	CA400866415	SOX9	c.494A>T (p.His165Leu)	dbSNP
17	g.72122782C>A	CA400866417	SOX9	c.495C>A (p.His165Gln)	dbSNP
17	g.72122782C>G	CA400866418	SOX9	c.495C>G (p.His165Gln)	dbSNP
17	g.72122782C>T	CA501432577	SOX9	c.495C>T (p.His165=)	dbSNP
17	g.72122783A>C	CA400866419	SOX9	c.496A>C (p.Lys166Gln)
17	g.72122783A>G	CA400866420	SOX9	c.496A>G (p.Lys166Glu)
17	g.72122783A>T	CA400866421	SOX9	c.496A>T (p.Lys166Ter)
17	g.72122786_72122788del	CA645598903	SOX9	c.499_501del (p.Lys167del)	COSMIC
17	g.72122784A>C	CA400866422	SOX9	c.497A>C (p.Lys166Thr)
17	g.72122784A>G	CA400866423	SOX9	c.497A>G (p.Lys166Arg)	dbSNP
17	g.72122784A>T	CA400866424	SOX9	c.497A>T (p.Lys166Met)	dbSNP
17	g.72122785G>A	CA501432578	SOX9	c.498G>A (p.Lys166=)	dbSNP
17	g.72122785G>C	CA400866425	SOX9	c.498G>C (p.Lys166Asn)	dbSNP
17	g.72122785G>T	CA400866426	SOX9	c.498G>T (p.Lys166Asn)
17	g.72122786A>C	CA400866429	SOX9	c.499A>C (p.Lys167Gln)
17	g.72122786A>G	CA400866428	SOX9	c.499A>G (p.Lys167Glu)	dbSNP
17	g.72122786A>T	CA400866427	SOX9	c.499A>T (p.Lys167Ter)
17	g.72122787A>C	CA400866430	SOX9	c.500A>C (p.Lys167Thr)
17	g.72122787A>G	CA400866431	SOX9	c.500A>G (p.Lys167Arg)	dbSNP gnomAD v4
17	g.72122787A>T	CA400866432	SOX9	c.500A>T (p.Lys167Met)	dbSNP
17	g.72122788G>A	CA8738932	SOX9	c.501G>A (p.Lys167=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122788G>C	CA400866433	SOX9	c.501G>C (p.Lys167Asn)
17	g.72122788G=	CA2273925902	SOX9	c.501G= (p.Lys167=)
17	g.72122788G>T	CA400866434	SOX9	c.501G>T (p.Lys167Asn)	dbSNP
17	g.72122789G>A	CA400866435	SOX9	c.502G>A (p.Asp168Asn)	dbSNP
17	g.72122789G>C	CA400866436	SOX9	c.502G>C (p.Asp168His)	dbSNP
17	g.72122789G>T	CA400866437	SOX9	c.502G>T (p.Asp168Tyr)	ClinVar dbSNP
17	g.72122790A=	CA2273925903	SOX9	c.503A= (p.Asp168=)
17	g.72122790A>C	CA400866438	SOX9	c.503A>C (p.Asp168Ala)
17	g.72122790A>G	CA400866439	SOX9	c.503A>G (p.Asp168Gly)	ClinVar dbSNP
17	g.72122790A>T	CA400866440	SOX9	c.503A>T (p.Asp168Val)
17	g.72122791C>A	CA400866441	SOX9	c.504C>A (p.Asp168Glu)
17	g.72122791C=	CA2273925904	SOX9	c.504C= (p.Asp168=)
17	g.72122791C>G	CA400866442	SOX9	c.504C>G (p.Asp168Glu)	dbSNP
17	g.72122791C>T	CA8738933	SOX9	c.504C>T (p.Asp168=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122792C>A	CA400866443	SOX9	c.505C>A (p.His169Asn)
17	g.72122792C>G	CA400866444	SOX9	c.505C>G (p.His169Asp)
17	g.72122792C>T	CA400866445	SOX9	c.505C>T (p.His169Tyr)	gnomAD v4
17	g.72122793A>C	CA400866446	SOX9	c.506A>C (p.His169Pro)
17	g.72122793A>G	CA400866447	SOX9	c.506A>G (p.His169Arg)
17	g.72122793A>T	CA400866448	SOX9	c.506A>T (p.His169Leu)
17	g.72122794C>A	CA400866449	SOX9	c.507C>A (p.His169Gln)	dbSNP
17	g.72122794C=	CA2273925905	SOX9	c.507C= (p.His169=)
17	g.72122794C>G	CA10581490	SOX9	c.507C>G (p.His169Gln)	ClinVar dbSNP
17	g.72122794C>T	CA341684	SOX9	c.507C>T (p.His169=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122794_72122795delinsTA	CA2739268447	SOX9	c.507_508delinsTA (p.Pro170Thr)	ClinVar
17	g.72122795C>A	CA293782222	SOX9	c.508C>A (p.Pro170Thr)	ClinVar dbSNP
17	g.72122795C=	CA2273925906	SOX9	c.508C= (p.Pro170=)
17	g.72122795C>G	CA400866450	SOX9	c.508C>G (p.Pro170Ala)	ClinVar dbSNP
17	g.72122795C>T	CA400866451	SOX9	c.508C>T (p.Pro170Ser)	ClinVar dbSNP
17	g.72122796C>A	CA400866453	SOX9	c.509C>A (p.Pro170Gln)	dbSNP
17	g.72122796C=	CA2273925907	SOX9	c.509C= (p.Pro170=)
17	g.72122796C>G	CA400866454	SOX9	c.509C>G (p.Pro170Arg)	dbSNP
17	g.72122796C>T	CA400866452	SOX9	c.509C>T (p.Pro170Leu)	ClinVar dbSNP COSMIC
17	g.72122797G>A	CA501432579	SOX9	c.510G>A (p.Pro170=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122797G>C	CA501432580	SOX9	c.510G>C (p.Pro170=)	dbSNP
17	g.72122797G=	CA2273925908	SOX9	c.510G= (p.Pro170=)
17	g.72122797G>T	CA501432581	SOX9	c.510G>T (p.Pro170=)	COSMIC
17	g.72122798G>A	CA400866455	SOX9	c.511G>A (p.Asp171Asn)	dbSNP
17	g.72122798G>C	CA400866456	SOX9	c.511G>C (p.Asp171His)	dbSNP
17	g.72122798G=	CA2273925909	SOX9	c.511G= (p.Asp171=)
17	g.72122798G>T	CA400866457	SOX9	c.511G>T (p.Asp171Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.72122799A>C	CA400866458	SOX9	c.512A>C (p.Asp171Ala)
17	g.72122799A>G	CA400866459	SOX9	c.512A>G (p.Asp171Gly)
17	g.72122799A>T	CA400866460	SOX9	c.512A>T (p.Asp171Val)
17	g.72122800T>A	CA400866461	SOX9	c.513T>A (p.Asp171Glu)	dbSNP
17	g.72122800T>C	CA501432582	SOX9	c.513T>C (p.Asp171=)	dbSNP
17	g.72122800T>G	CA400866462	SOX9	c.513T>G (p.Asp171Glu)	dbSNP gnomAD v4
17	g.72122801dup	CA645598904	SOX9	c.514dup (p.Tyr172LeufsTer?)	COSMIC
17	g.72122801T>A	CA400866463	SOX9	c.514T>A (p.Tyr172Asn)	dbSNP
17	g.72122801T>C	CA400866464	SOX9	c.514T>C (p.Tyr172His)	COSMIC
17	g.72122801T>G	CA400866465	SOX9	c.514T>G (p.Tyr172Asp)	dbSNP
17	g.72122802A=	CA2273925910	SOX9	c.515A= (p.Tyr172=)
17	g.72122802A>C	CA400866466	SOX9	c.515A>C (p.Tyr172Ser)	dbSNP
17	g.72122802A>G	CA400866467	SOX9	c.515A>G (p.Tyr172Cys)	ClinVar dbSNP
17	g.72122802A>T	CA400866468	SOX9	c.515A>T (p.Tyr172Phe)	ClinVar dbSNP
17	g.72122803C>A	CA400866470	SOX9	c.516C>A (p.Tyr172Ter)
17	g.72122803C>G	CA400866469	SOX9	c.516C>G (p.Tyr172Ter)	dbSNP COSMIC
17	g.72122803C>T	CA501432583	SOX9	c.516C>T (p.Tyr172=)	dbSNP gnomAD v4
17	g.72122804A=	CA2273925911	SOX9	c.517A= (p.Lys173=)
17	g.72122804A>C	CA400866471	SOX9	c.517A>C (p.Lys173Gln)
17	g.72122804A>G	CA115585	SOX9	c.517A>G (p.Lys173Glu)	ClinVar dbSNP
17	g.72122804A>T	CA400866472	SOX9	c.517A>T (p.Lys173Ter)	ClinVar dbSNP
17	g.72122805A=	CA2273925912	SOX9	c.518A= (p.Lys173=)
17	g.72122805A>C	CA400866473	SOX9	c.518A>C (p.Lys173Thr)
17	g.72122805A>G	CA293782230	SOX9	c.518A>G (p.Lys173Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.72122805A>T	CA400866474	SOX9	c.518A>T (p.Lys173Met)	dbSNP
17	g.72122805_72122806insATA	CA645598905	SOX9	c.518_519insATA (p.Lys174Ter)	COSMIC
17	g.72122806G>A	CA241336	SOX9	c.519G>A (p.Lys173=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122806G>C	CA400866475	SOX9	c.519G>C (p.Lys173Asn)	dbSNP
17	g.72122806G=	CA2273925913	SOX9	c.519G= (p.Lys173=)
17	g.72122806G>T	CA400866476	SOX9	c.519G>T (p.Lys173Asn)
17	g.72122807T>A	CA400866477	SOX9	c.520T>A (p.Tyr174Asn)	dbSNP
17	g.72122807T>C	CA400866478	SOX9	c.520T>C (p.Tyr174His)	dbSNP
17	g.72122807T>G	CA400866479	SOX9	c.520T>G (p.Tyr174Asp)	dbSNP
17	g.72122808A=	CA2273925914	SOX9	c.521A= (p.Tyr174=)
17	g.72122808A>C	CA400866480	SOX9	c.521A>C (p.Tyr174Ser)	ClinVar dbSNP
17	g.72122808A>G	CA400866481	SOX9	c.521A>G (p.Tyr174Cys)
17	g.72122808A>T	CA400866482	SOX9	c.521A>T (p.Tyr174Phe)
17	g.72122809C>A	CA400866483	SOX9	c.522C>A (p.Tyr174Ter)	ClinVar dbSNP
17	g.72122809C=	CA2273925915	SOX9	c.522C= (p.Tyr174=)
17	g.72122809C>G	CA16620596	SOX9	c.522C>G (p.Tyr174Ter)	ClinVar dbSNP
17	g.72122809C>T	CA8738934	SOX9	c.522C>T (p.Tyr174=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122810C>A	CA400866484	SOX9	c.523C>A (p.Gln175Lys)	dbSNP
17	g.72122810C>G	CA400866485	SOX9	c.523C>G (p.Gln175Glu)	dbSNP
17	g.72122810C>T	CA400866486	SOX9	c.523C>T (p.Gln175Ter)	dbSNP
17	g.72122811A>C	CA400866487	SOX9	c.524A>C (p.Gln175Pro)	COSMIC
17	g.72122811A>G	CA400866488	SOX9	c.524A>G (p.Gln175Arg)	dbSNP
17	g.72122811A>T	CA400866489	SOX9	c.524A>T (p.Gln175Leu)	dbSNP
17	g.72122812G>A	CA501432584	SOX9	c.525G>A (p.Gln175=)	dbSNP
17	g.72122812G>C	CA400866490	SOX9	c.525G>C (p.Gln175His)	dbSNP
17	g.72122812G>T	CA400866491	SOX9	c.525G>T (p.Gln175His)
17	g.72122813C>A	CA400866492	SOX9	c.526C>A (p.Pro176Thr)	ClinVar dbSNP
17	g.72122813C=	CA2273925916	SOX9	c.526C= (p.Pro176=)
17	g.72122813C>G	CA400866493	SOX9	c.526C>G (p.Pro176Ala)	dbSNP
17	g.72122813C>T	CA400866494	SOX9	c.526C>T (p.Pro176Ser)	ClinVar dbSNP COSMIC
17	g.72122814C>A	CA400866497	SOX9	c.527C>A (p.Pro176Gln)
17	g.72122814C=	CA2273925917	SOX9	c.527C= (p.Pro176=)
17	g.72122814C>G	CA400866496	SOX9	c.527C>G (p.Pro176Arg)	ClinVar dbSNP
17	g.72122814C>T	CA400866495	SOX9	c.527C>T (p.Pro176Leu)	ClinVar dbSNP
17	g.72122815G>A	CA501432585	SOX9	c.528G>A (p.Pro176=)	ClinVar dbSNP
17	g.72122815G>C	CA501432586	SOX9	c.528G>C (p.Pro176=)	dbSNP
17	g.72122815G=	CA2273925918	SOX9	c.528G= (p.Pro176=)
17	g.72122815G>T	CA8738935	SOX9	c.528G>T (p.Pro176=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122816C>A	CA501432587	SOX9	c.529C>A (p.Arg177=)	dbSNP
17	g.72122816C>G	CA400866498	SOX9	c.529C>G (p.Arg177Gly)	dbSNP
17	g.72122816C>T	CA400866499	SOX9	c.529C>T (p.Arg177Trp)	ClinVar dbSNP COSMIC
17	g.72122817G>A	CA241338	SOX9	c.530G>A (p.Arg177Gln)	ClinVar dbSNP
17	g.72122817G>C	CA400866500	SOX9	c.530G>C (p.Arg177Pro)
17	g.72122817G=	CA2273925919	SOX9	c.530G= (p.Arg177=)
17	g.72122817G>T	CA400866501	SOX9	c.530G>T (p.Arg177Leu)
17	g.72122818G>A	CA8738936	SOX9	c.531G>A (p.Arg177=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122818G>C	CA501432588	SOX9	c.531G>C (p.Arg177=)	dbSNP
17	g.72122818G=	CA2273925920	SOX9	c.531G= (p.Arg177=)
17	g.72122818G>T	CA501432589	SOX9	c.531G>T (p.Arg177=)	dbSNP gnomAD v4
17	g.72122819C>A	CA8738937	SOX9	c.532C>A (p.Arg178=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122819C=	CA2273925921	SOX9	c.532C= (p.Arg178=)
17	g.72122819C>G	CA400866502	SOX9	c.532C>G (p.Arg178Gly)	dbSNP
17	g.72122819C>T	CA400866503	SOX9	c.532C>T (p.Arg178Trp)	dbSNP
17	g.72122820G>A	CA400866504	SOX9	c.533G>A (p.Arg178Gln)	dbSNP
17	g.72122820G>C	CA400866505	SOX9	c.533G>C (p.Arg178Pro)	dbSNP
17	g.72122820G>T	CA400866506	SOX9	c.533G>T (p.Arg178Leu)	dbSNP
17	g.72122821G>A	CA501432591	SOX9	c.534G>A (p.Arg178=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122821G>C	CA501432592	SOX9	c.534G>C (p.Arg178=)	dbSNP
17	g.72122821G=	CA2273925922	SOX9	c.534G= (p.Arg178=)
17	g.72122821G>T	CA501432590	SOX9	c.534G>T (p.Arg178=)
17	g.72122822A=	CA2273925923	SOX9	c.535A= (p.Arg179=)
17	g.72122822A>C	CA501432593	SOX9	c.535A>C (p.Arg179=)
17	g.72122822A>G	CA241340	SOX9	c.535A>G (p.Arg179Gly)	ClinVar dbSNP
17	g.72122822A>T	CA400866507	SOX9	c.535A>T (p.Arg179Trp)	dbSNP
17	g.72122823G>A	CA400866508	SOX9	c.536G>A (p.Arg179Lys)
17	g.72122823G>C	CA400866510	SOX9	c.536G>C (p.Arg179Thr)
17	g.72122823G>T	CA400866509	SOX9	c.536G>T (p.Arg179Met)
17	g.72122824G>A	CA8738938	SOX9	c.537G>A (p.Arg179=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122824G>C	CA400866511	SOX9	c.537G>C (p.Arg179Ser)	dbSNP
17	g.72122824G=	CA2273925924	SOX9	c.537G= (p.Arg179=)
17	g.72122824G>T	CA400866512	SOX9	c.537G>T (p.Arg179Ser)	dbSNP
17	g.72122825A>C	CA400866513	SOX9	c.538A>C (p.Lys180Gln)
17	g.72122825A>G	CA400866514	SOX9	c.538A>G (p.Lys180Glu)	dbSNP
17	g.72122825A>T	CA400866515	SOX9	c.538A>T (p.Lys180Ter)	dbSNP
17	g.72122826A>C	CA400866516	SOX9	c.539A>C (p.Lys180Thr)
17	g.72122826A>G	CA400866517	SOX9	c.539A>G (p.Lys180Arg)
17	g.72122826A>T	CA400866518	SOX9	c.539A>T (p.Lys180Met)	dbSNP
17	g.72122827G>A	CA8738939	SOX9	c.540G>A (p.Lys180=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122827G>C	CA400866519	SOX9	c.540G>C (p.Lys180Asn)	dbSNP
17	g.72122827G=	CA2273925925	SOX9	c.540G= (p.Lys180=)
17	g.72122827G>T	CA400866520	SOX9	c.540G>T (p.Lys180Asn)
17	g.72122828T>A	CA400866522	SOX9	c.541T>A (p.Ser181Thr)	dbSNP
17	g.72122828T>C	CA400866523	SOX9	c.541T>C (p.Ser181Pro)	dbSNP
17	g.72122828T>G	CA400866521	SOX9	c.541T>G (p.Ser181Ala)	dbSNP
17	g.72122829C>A	CA400866524	SOX9	c.542C>A (p.Ser181Ter)
17	g.72122829C>G	CA400866526	SOX9	c.542C>G (p.Ser181Trp)
17	g.72122829C>T	CA400866525	SOX9	c.542C>T (p.Ser181Leu)	gnomAD v4
17	g.72122830G>A	CA501432594	SOX9	c.543G>A (p.Ser181=)	dbSNP
17	g.72122830G>C	CA501432595	SOX9	c.543G>C (p.Ser181=)	dbSNP
17	g.72122830G>T	CA501432596	SOX9	c.543G>T (p.Ser181=)	dbSNP
17	g.72122831G>A	CA8738940	SOX9	c.544G>A (p.Val182Met)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122831G>C	CA400866527	SOX9	c.544G>C (p.Val182Leu)	dbSNP
17	g.72122831G=	CA2273925926	SOX9	c.544G= (p.Val182=)
17	g.72122831G>T	CA400866528	SOX9	c.544G>T (p.Val182Leu)
17	g.72122832T>A	CA400866529	SOX9	c.545T>A (p.Val182Glu)	dbSNP
17	g.72122832T>C	CA400866530	SOX9	c.545T>C (p.Val182Ala)	dbSNP gnomAD v4
17	g.72122832T>G	CA400866531	SOX9	c.545T>G (p.Val182Gly)
17	g.72122832T=	CA2273925927	SOX9	c.545T= (p.Val182=)
17	g.72122833G>A	CA501432597	SOX9	c.546G>A (p.Val182=)	dbSNP gnomAD v4
17	g.72122833G>C	CA501432598	SOX9	c.546G>C (p.Val182=)
17	g.72122833G=	CA2273925928	SOX9	c.546G= (p.Val182=)
17	g.72122833G>T	CA501432599	SOX9	c.546G>T (p.Val182=)
17	g.72122834A>C	CA400866532	SOX9	c.547A>C (p.Lys183Gln)
17	g.72122834A>G	CA400866533	SOX9	c.547A>G (p.Lys183Glu)	dbSNP
17	g.72122834A>T	CA400866534	SOX9	c.547A>T (p.Lys183Ter)	dbSNP
17	g.72122835A=	CA2273925929	SOX9	c.548A= (p.Lys183=)
17	g.72122835A>C	CA400866535	SOX9	c.548A>C (p.Lys183Thr)
17	g.72122835A>G	CA400866536	SOX9	c.548A>G (p.Lys183Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122835A>T	CA400866537	SOX9	c.548A>T (p.Lys183Met)	dbSNP
17	g.72122836G>A	CA501432600	SOX9	c.549G>A (p.Lys183=)	dbSNP gnomAD v4
17	g.72122836G>C	CA400866539	SOX9	c.549G>C (p.Lys183Asn)
17	g.72122836G>T	CA400866538	SOX9	c.549G>T (p.Lys183Asn)
17	g.72122837A>C	CA400866540	SOX9	c.550A>C (p.Asn184His)
17	g.72122837A>G	CA400866541	SOX9	c.550A>G (p.Asn184Asp)	dbSNP
17	g.72122837A>T	CA400866542	SOX9	c.550A>T (p.Asn184Tyr)
17	g.72122838A=	CA2273925930	SOX9	c.551A= (p.Asn184=)
17	g.72122838A>C	CA400866543	SOX9	c.551A>C (p.Asn184Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122838A>G	CA400866544	SOX9	c.551A>G (p.Asn184Ser)	dbSNP
17	g.72122838A>T	CA400866545	SOX9	c.551A>T (p.Asn184Ile)	dbSNP
17	g.72122839C>A	CA293782307	SOX9	c.552C>A (p.Asn184Lys)	dbSNP gnomAD v4
17	g.72122839C=	CA2273925931	SOX9	c.552C= (p.Asn184=)
17	g.72122839C>G	CA8738941	SOX9	c.552C>G (p.Asn184Lys)	dbSNP ExAC
17	g.72122839C>T	CA501432601	SOX9	c.552C>T (p.Asn184=)	dbSNP
17	g.72122839_72122840delinsCG	CA2273925932	SOX9	c.552_553delinsCG (p.Asn184=)
17	g.72122840G>A	CA400866546	SOX9	c.553G>A (p.Gly185Arg)	dbSNP gnomAD v4
17	g.72122840G>C	CA400866547	SOX9	c.553G>C (p.Gly185Arg)	dbSNP gnomAD v4
17	g.72122840G=	CA2273925933	SOX9	c.553G= (p.Gly185=)
17	g.72122840G>T	CA8738942	SOX9	c.553G>T (p.Gly185Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122842del	CA10588669	SOX9	c.555del (p.Gln186ArgfsTer?)	ClinVar dbSNP
17	g.72122841G>A	CA8738943	SOX9	c.554G>A (p.Gly185Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122841G>C	CA400866548	SOX9	c.554G>C (p.Gly185Ala)	dbSNP gnomAD v4
17	g.72122841G=	CA2273925934	SOX9	c.554G= (p.Gly185=)
17	g.72122841G>T	CA400866549	SOX9	c.554G>T (p.Gly185Val)	dbSNP
17	g.72122844_72122847del	CA2580617967	SOX9	c.557_560del (p.Gln186ArgfsTer?)	ClinVar
17	g.72122842G>A	CA8738944	SOX9	c.555G>A (p.Gly185=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122842G>C	CA501432602	SOX9	c.555G>C (p.Gly185=)
17	g.72122842G=	CA2273925935	SOX9	c.555G= (p.Gly185=)
17	g.72122842G>T	CA501432603	SOX9	c.555G>T (p.Gly185=)	gnomAD v4
17	g.72122843C>A	CA400866552	SOX9	c.556C>A (p.Gln186Lys)
17	g.72122843C>G	CA400866550	SOX9	c.556C>G (p.Gln186Glu)	dbSNP
17	g.72122843C>T	CA400866551	SOX9	c.556C>T (p.Gln186Ter)	dbSNP
17	g.72122844A>C	CA400866553	SOX9	c.557A>C (p.Gln186Pro)
17	g.72122844A>G	CA400866554	SOX9	c.557A>G (p.Gln186Arg)	gnomAD v4
17	g.72122844A>T	CA400866555	SOX9	c.557A>T (p.Gln186Leu)
17	g.72122845G>A	CA501432765	SOX9	c.558G>A (p.Gln186=)	dbSNP gnomAD v4
17	g.72122845G>C	CA400866556	SOX9	c.558G>C (p.Gln186His)	dbSNP
17	g.72122845G>T	CA400866557	SOX9	c.558G>T (p.Gln186His)
17	g.72122846G>A	CA400866558	SOX9	c.559G>A (p.Ala187Thr)	dbSNP
17	g.72122846G>C	CA8738945	SOX9	c.559G>C (p.Ala187Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122846G=	CA2273925936	SOX9	c.559G= (p.Ala187=)
17	g.72122846G>T	CA400866559	SOX9	c.559G>T (p.Ala187Ser)	dbSNP
17	g.72122847C>A	CA400866560	SOX9	c.560C>A (p.Ala187Glu)	dbSNP
17	g.72122847C>G	CA400866561	SOX9	c.560C>G (p.Ala187Gly)	dbSNP
17	g.72122847C>T	CA400866562	SOX9	c.560C>T (p.Ala187Val)	dbSNP gnomAD v4
17	g.72122848G>A	CA501432766	SOX9	c.561G>A (p.Ala187=)	dbSNP gnomAD v3 gnomAD v4
17	g.72122848G>C	CA501432767	SOX9	c.561G>C (p.Ala187=)	dbSNP gnomAD v2 gnomAD v4
17	g.72122848G=	CA2273925937	SOX9	c.561G= (p.Ala187=)
17	g.72122848G>T	CA501432768	SOX9	c.561G>T (p.Ala187=)
17	g.72122849G>A	CA400866565	SOX9	c.562G>A (p.Glu188Lys)	dbSNP
17	g.72122849G>C	CA400866563	SOX9	c.562G>C (p.Glu188Gln)	dbSNP
17	g.72122849G>T	CA400866564	SOX9	c.562G>T (p.Glu188Ter)
17	g.72122850_72122851dup	CA2573335039	SOX9	c.563_564dup (p.Ala189ArgfsTer?)
17	g.72122850A>C	CA400866566	SOX9	c.563A>C (p.Glu188Ala)
17	g.72122850A>G	CA400866567	SOX9	c.563A>G (p.Glu188Gly)	dbSNP
17	g.72122850A>T	CA400866568	SOX9	c.563A>T (p.Glu188Val)	dbSNP
17	g.72122851G>A	CA8738946	SOX9	c.564G>A (p.Glu188=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122851G>C	CA400866569	SOX9	c.564G>C (p.Glu188Asp)
17	g.72122851G=	CA2273925938	SOX9	c.564G= (p.Glu188=)
17	g.72122851G>T	CA400866570	SOX9	c.564G>T (p.Glu188Asp)
17	g.72122852G>A	CA400866571	SOX9	c.565G>A (p.Ala189Thr)
17	g.72122852G>C	CA400866572	SOX9	c.565G>C (p.Ala189Pro)
17	g.72122852G>T	CA400866573	SOX9	c.565G>T (p.Ala189Ser)
17	g.72122853C>A	CA400866574	SOX9	c.566C>A (p.Ala189Glu)	dbSNP
17	g.72122853C>G	CA400866575	SOX9	c.566C>G (p.Ala189Gly)	dbSNP gnomAD v4
17	g.72122853C>T	CA400866576	SOX9	c.566C>T (p.Ala189Val)	dbSNP COSMIC
17	g.72122854A=	CA2273925940	SOX9	c.567A= (p.Ala189=)
17	g.72122854A>C	CA501432769	SOX9	c.567A>C (p.Ala189=)	ClinVar dbSNP
17	g.72122854A>G	CA501432770	SOX9	c.567A>G (p.Ala189=)	dbSNP
17	g.72122854A>T	CA501432771	SOX9	c.567A>T (p.Ala189=)	dbSNP
17	g.72122854_72122857delinsAGAG	CA2273925939	SOX9	c.567_570delinsAGAG (p.Ala189=)
17	g.72122855G>A	CA400866577	SOX9	c.568G>A (p.Glu190Lys)	dbSNP
17	g.72122855G>C	CA293782359	SOX9	c.568G>C (p.Glu190Gln)	dbSNP COSMIC
17	g.72122855G=	CA2273925941	SOX9	c.568G= (p.Glu190=)
17	g.72122855G>T	CA400866578	SOX9	c.568G>T (p.Glu190Ter)
17	g.72122859_72122861del	CA8738947	SOX9	c.572_574del (p.Glu191del)	dbSNP ExAC
17	g.72122856A=	CA2273925942	SOX9	c.569A= (p.Glu190=)
17	g.72122856A>C	CA400866579	SOX9	c.569A>C (p.Glu190Ala)
17	g.72122856A>G	CA8738948	SOX9	c.569A>G (p.Glu190Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122856A>T	CA400866580	SOX9	c.569A>T (p.Glu190Val)	dbSNP
17	g.72122857G>A	CA501432772	SOX9	c.570G>A (p.Glu190=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.72122857G>C	CA400866581	SOX9	c.570G>C (p.Glu190Asp)	dbSNP
17	g.72122857G=	CA2273925943	SOX9	c.570G= (p.Glu190=)
17	g.72122857G>T	CA400866582	SOX9	c.570G>T (p.Glu190Asp)	dbSNP COSMIC
17	g.72122858G>A	CA400866585	SOX9	c.571G>A (p.Glu191Lys)	dbSNP
17	g.72122858G>C	CA400866583	SOX9	c.571G>C (p.Glu191Gln)	dbSNP
17	g.72122858G>T	CA400866584	SOX9	c.571G>T (p.Glu191Ter)
17	g.72122859A=	CA2273925944	SOX9	c.572A= (p.Glu191=)
17	g.72122859A>C	CA8738949	SOX9	c.572A>C (p.Glu191Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122859A>G	CA400866586	SOX9	c.572A>G (p.Glu191Gly)	dbSNP
17	g.72122859A>T	CA400866587	SOX9	c.572A>T (p.Glu191Val)	dbSNP gnomAD v4
17	g.72122860G>A	CA501432773	SOX9	c.573G>A (p.Glu191=)	dbSNP
17	g.72122860G>C	CA400866588	SOX9	c.573G>C (p.Glu191Asp)	dbSNP
17	g.72122860G=	CA2273925945	SOX9	c.573G= (p.Glu191=)
17	g.72122860G>T	CA400866589	SOX9	c.573G>T (p.Glu191Asp)	dbSNP
17	g.72122861G>A	CA400866591	SOX9	c.574G>A (p.Ala192Thr)
17	g.72122861G>C	CA400866590	SOX9	c.574G>C (p.Ala192Pro)	gnomAD v4
17	g.72122861G=	CA2273925946	SOX9	c.574G= (p.Ala192=)
17	g.72122861G>T	CA8738950	SOX9	c.574G>T (p.Ala192Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122862C>A	CA400866592	SOX9	c.575C>A (p.Ala192Asp)	dbSNP
17	g.72122862C>G	CA400866593	SOX9	c.575C>G (p.Ala192Gly)	dbSNP
17	g.72122862C>T	CA400866594	SOX9	c.575C>T (p.Ala192Val)	dbSNP gnomAD v4
17	g.72122863C>A	CA501432776	SOX9	c.576C>A (p.Ala192=)
17	g.72122863C>G	CA501432775	SOX9	c.576C>G (p.Ala192=)	dbSNP
17	g.72122863C>T	CA501432774	SOX9	c.576C>T (p.Ala192=)
17	g.72122864A=	CA2273925947	SOX9	c.577A= (p.Thr193=)
17	g.72122864A>C	CA400866595	SOX9	c.577A>C (p.Thr193Pro)	dbSNP
17	g.72122864A>G	CA8738951	SOX9	c.577A>G (p.Thr193Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72122864A>T	CA400866596	SOX9	c.577A>T (p.Thr193Ser)	dbSNP
17	g.72122865C>A	CA400866597	SOX9	c.578C>A (p.Thr193Lys)
17	g.72122865C>G	CA400866598	SOX9	c.578C>G (p.Thr193Arg)	dbSNP
17	g.72122865C>T	CA400866599	SOX9	c.578C>T (p.Thr193Met)
17	g.72122866G>A	CA501432777	SOX9	c.579G>A (p.Thr193=)	dbSNP
17	g.72122866G>C	CA501432778	SOX9	c.579G>C (p.Thr193=)	dbSNP
17	g.72122866G>T	CA501432779	SOX9	c.579G>T (p.Thr193=)	gnomAD v4
17	g.72122867G>A	CA400866600	SOX9	c.580G>A (p.Glu194Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122867G>C	CA400866601	SOX9	c.580G>C (p.Glu194Gln)	dbSNP
17	g.72122867G=	CA2273925948	SOX9	c.580G= (p.Glu194=)
17	g.72122867G>T	CA400866602	SOX9	c.580G>T (p.Glu194Ter)	dbSNP
17	g.72122867_72122870dup	CA645598906	SOX9	c.580_583dup (p.Gln195ArgfsTer?)	COSMIC
17	g.72122868A=	CA2273925949	SOX9	c.581A= (p.Glu194=)
17	g.72122868A>C	CA400866603	SOX9	c.581A>C (p.Glu194Ala)
17	g.72122868A>G	CA293782385	SOX9	c.581A>G (p.Glu194Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122868A>T	CA400866604	SOX9	c.581A>T (p.Glu194Val)
17	g.72122869G>A	CA8738952	SOX9	c.582G>A (p.Glu194=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122869G>C	CA400866605	SOX9	c.582G>C (p.Glu194Asp)	dbSNP gnomAD v4
17	g.72122869G=	CA2273925950	SOX9	c.582G= (p.Glu194=)
17	g.72122869G>T	CA400866606	SOX9	c.582G>T (p.Glu194Asp)
17	g.72122870C>A	CA400866607	SOX9	c.583C>A (p.Gln195Lys)
17	g.72122870C=	CA2273925951	SOX9	c.583C= (p.Gln195=)
17	g.72122870C>G	CA400866608	SOX9	c.583C>G (p.Gln195Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.72122870C>T	CA400866609	SOX9	c.583C>T (p.Gln195Ter)	ClinVar dbSNP
17	g.72122871A=	CA2273925952	SOX9	c.584A= (p.Gln195=)
17	g.72122871A>C	CA400866610	SOX9	c.584A>C (p.Gln195Pro)	gnomAD v4
17	g.72122871A>G	CA400866611	SOX9	c.584A>G (p.Gln195Arg)	dbSNP
17	g.72122871A>T	CA400866612	SOX9	c.584A>T (p.Gln195Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.72122872G>A	CA501432780	SOX9	c.585G>A (p.Gln195=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72122872G>C	CA400866613	SOX9	c.585G>C (p.Gln195His)
17	g.72122872G=	CA2273925953	SOX9	c.585G= (p.Gln195=)
17	g.72122872G>T	CA400866614	SOX9	c.585G>T (p.Gln195His)

Number of alleles fetched