Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72123544_72123563dup	CA645598912	SOX9	c.687_706dup (p.Thr236SerfsTer24)	COSMIC
17	g.72123555G>A	CA400866864	SOX9	c.698G>A (p.Gly233Asp)	dbSNP
17	g.72123555G>C	CA400866862	SOX9	c.698G>C (p.Gly233Ala)	dbSNP
17	g.72123555G>T	CA400866863	SOX9	c.698G>T (p.Gly233Val)	dbSNP
17	g.72123556C>A	CA501351962	SOX9	c.699C>A (p.Gly233=)	dbSNP
17	g.72123556C>G	CA501351963	SOX9	c.699C>G (p.Gly233=)	dbSNP
17	g.72123556C>T	CA501351964	SOX9	c.699C>T (p.Gly233=)	dbSNP
17	g.72123557_72123558dup	CA645598913	SOX9	c.700_701dup (p.Pro235HisfsTer19)	COSMIC
17	g.72123557C>A	CA400866865	SOX9	c.700C>A (p.Pro234Thr)	dbSNP
17	g.72123557C>G	CA400866866	SOX9	c.700C>G (p.Pro234Ala)	dbSNP gnomAD v4
17	g.72123557C>T	CA400866867	SOX9	c.700C>T (p.Pro234Ser)	dbSNP
17	g.72123558C>A	CA400866868	SOX9	c.701C>A (p.Pro234Gln)	dbSNP
17	g.72123558C>G	CA400866869	SOX9	c.701C>G (p.Pro234Arg)	dbSNP
17	g.72123558C>T	CA400866870	SOX9	c.701C>T (p.Pro234Leu)	dbSNP
17	g.72123559A=	CA2273926335	SOX9	c.702A= (p.Pro234=)
17	g.72123559A>C	CA501351965	SOX9	c.702A>C (p.Pro234=)	dbSNP
17	g.72123559A>G	CA501351966	SOX9	c.702A>G (p.Pro234=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123559A>T	CA501351967	SOX9	c.702A>T (p.Pro234=)	dbSNP
17	g.72123560C>A	CA400866871	SOX9	c.703C>A (p.Pro235Thr)
17	g.72123560C>G	CA400866872	SOX9	c.703C>G (p.Pro235Ala)	dbSNP COSMIC
17	g.72123560C>T	CA400866873	SOX9	c.703C>T (p.Pro235Ser)	dbSNP
17	g.72123561C>A	CA293783242	SOX9	c.704C>A (p.Pro235Gln)	dbSNP
17	g.72123561C=	CA2273926336	SOX9	c.704C= (p.Pro235=)
17	g.72123561C>G	CA400866874	SOX9	c.704C>G (p.Pro235Arg)	dbSNP
17	g.72123561C>T	CA400866875	SOX9	c.704C>T (p.Pro235Leu)	ClinVar dbSNP
17	g.72123562G>A	CA501351968	SOX9	c.705G>A (p.Pro235=)	dbSNP gnomAD v4 COSMIC
17	g.72123562G>C	CA501351970	SOX9	c.705G>C (p.Pro235=)	dbSNP
17	g.72123562G>T	CA501351969	SOX9	c.705G>T (p.Pro235=)	dbSNP
17	g.72123562dup	CA2759522132	SOX9	c.705dup (p.Thr236AspfsTer16)
17	g.72123562_72123563del	CA2497030132	SOX9	c.705_706del (p.Thr236ProfsTer15)
17	g.72123562_72123563insC	CA2573050687	SOX9	c.705_706insC (p.Thr236HisfsTer16)	dbSNP
17	g.72123562_72123563insCC	CA2573320478	SOX9	c.705_706insCC (p.Thr236ProfsTer18)
17	g.72123562_72123563insCCCCCCCCCCCC	CA2573130126	SOX9	c.705_706insCCCCCCCCCCCC (p.Pro235_Thr236insProProProPro)
17	g.72123563A>C	CA400866876	SOX9	c.706A>C (p.Thr236Pro)	ClinVar dbSNP gnomAD v4
17	g.72123563A>G	CA400866878	SOX9	c.706A>G (p.Thr236Ala)	dbSNP
17	g.72123563A>T	CA400866877	SOX9	c.706A>T (p.Thr236Ser)	dbSNP
17	g.72123563_72123564delinsAC	CA2273926337	SOX9	c.706_707delinsAC (p.Thr236=)
17	g.72123564C>A	CA400866879	SOX9	c.707C>A (p.Thr236Asn)	gnomAD v4
17	g.72123564C>G	CA400866881	SOX9	c.707C>G (p.Thr236Ser)
17	g.72123564C>T	CA400866880	SOX9	c.707C>T (p.Thr236Ile)
17	g.72123567_72123568insCCCCCCCC	CA2639603113	SOX9	c.710_711insCCCCCCCC (p.Thr239ProfsTer17)	gnomAD v4
17	g.72123567_72123568insCCCCCCCCC	CA2810344952	SOX9	c.710_711insCCCCCCCCC (p.Pro237_Pro238insProProPro)
17	g.72123567_72123568insCCCCCCCCCC	CA2639603114	SOX9	c.710_711insCCCCCCCCCC (p.Thr239ProfsTer16)	gnomAD v4
17	g.72123567dup	CA627589965	SOX9	c.710dup (p.Pro238ThrfsTer14)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123566_72123567dup	CA627589966	SOX9	c.709_710dup (p.Pro238HisfsTer16)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72123565_72123567dup	CA2579753818	SOX9	c.708_710dup (p.Pro237_Pro238insPro)	gnomAD v4
17	g.72123564_72123567dup	CA2639603112	SOX9	c.707_710dup (p.Thr240HisfsTer13)	gnomAD v4
17	g.72123567del	CA2273926338	SOX9	c.710del (p.Pro237HisfsTer16)	ClinVar dbSNP
17	g.72123565C>A	CA501351973	SOX9	c.708C>A (p.Thr236=)	dbSNP gnomAD v4
17	g.72123565C>G	CA501351972	SOX9	c.708C>G (p.Thr236=)	dbSNP gnomAD v4
17	g.72123565C>T	CA501351971	SOX9	c.708C>T (p.Thr236=)	dbSNP gnomAD v4
17	g.72123571_72123574del	CA2639603115	SOX9	c.714_717del (p.Thr239ProfsTer13)	gnomAD v4
17	g.72123566C>A	CA400866882	SOX9	c.709C>A (p.Pro237Thr)	dbSNP
17	g.72123566C>G	CA400866883	SOX9	c.709C>G (p.Pro237Ala)	dbSNP
17	g.72123566C>T	CA400866884	SOX9	c.709C>T (p.Pro237Ser)	dbSNP
17	g.72123567C>A	CA400866885	SOX9	c.710C>A (p.Pro237Gln)	dbSNP
17	g.72123567C>G	CA400866886	SOX9	c.710C>G (p.Pro237Arg)	dbSNP
17	g.72123567C>T	CA400866887	SOX9	c.710C>T (p.Pro237Leu)	dbSNP
17	g.72123568A=	CA2273926339	SOX9	c.711A= (p.Pro237=)
17	g.72123568A>C	CA501351974	SOX9	c.711A>C (p.Pro237=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123568A>G	CA501351976	SOX9	c.711A>G (p.Pro237=)
17	g.72123568A>T	CA501351975	SOX9	c.711A>T (p.Pro237=)
17	g.72123569C>A	CA400866888	SOX9	c.712C>A (p.Pro238Thr)	dbSNP
17	g.72123569C=	CA2273926340	SOX9	c.712C= (p.Pro238=)
17	g.72123569C>G	CA400866889	SOX9	c.712C>G (p.Pro238Ala)	dbSNP gnomAD v2
17	g.72123569C>T	CA400866890	SOX9	c.712C>T (p.Pro238Ser)	dbSNP
17	g.72123571dup	CA986080591	SOX9	c.714dup (p.Thr239HisfsTer13)	gnomAD v3 gnomAD v4
17	g.72123570_72123571dup	CA2639603116	SOX9	c.713_714dup (p.Thr239ProfsTer15)	gnomAD v4
17	g.72123570C>A	CA400866891	SOX9	c.713C>A (p.Pro238His)	dbSNP
17	g.72123570C>G	CA400866892	SOX9	c.713C>G (p.Pro238Arg)
17	g.72123570C>T	CA400866893	SOX9	c.713C>T (p.Pro238Leu)	dbSNP
17	g.72123571C>A	CA501351977	SOX9	c.714C>A (p.Pro238=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123571C=	CA2273926341	SOX9	c.714C= (p.Pro238=)
17	g.72123571C>G	CA293783248	SOX9	c.714C>G (p.Pro238=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72123571C>T	CA501351978	SOX9	c.714C>T (p.Pro238=)
17	g.72123571_72123572insCCCCCCCCCCAA	CA2639603117	SOX9	c.714_715insCCCCCCCCCCAA (p.Pro238_Thr239insProProProGln)	gnomAD v4
17	g.72123571_72123572insCCCCCCCCCCCA	CA2499306824	SOX9	c.714_715insCCCCCCCCCCCA (p.Pro238_Thr239insProProProPro)
17	g.72123572A=	CA2273926342	SOX9	c.715A= (p.Thr239=)
17	g.72123572A>C	CA400866894	SOX9	c.715A>C (p.Thr239Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123572A>G	CA400866896	SOX9	c.715A>G (p.Thr239Ala)
17	g.72123572A>T	CA400866895	SOX9	c.715A>T (p.Thr239Ser)	dbSNP
17	g.72123572dup	CA2695226895	SOX9	c.715dup (p.Thr239AsnfsTer13)
17	g.72123572_72123575del	CA986080596	SOX9	c.715_718del (p.Thr239ProfsTer13)	dbSNP gnomAD v3 gnomAD v4
17	g.72123572_72123573insAAC	CA2639603118	SOX9	c.715_716insAAC (p.Thr239delinsLysPro)	gnomAD v4
17	g.72123573C>A	CA400866897	SOX9	c.716C>A (p.Thr239Asn)	dbSNP
17	g.72123573C>G	CA400866898	SOX9	c.716C>G (p.Thr239Ser)	dbSNP
17	g.72123573C>T	CA400866899	SOX9	c.716C>T (p.Thr239Ile)	dbSNP
17	g.72123574dup	CA986080599	SOX9	c.717dup (p.Thr240HisfsTer12)	gnomAD v3 gnomAD v4
17	g.72123574C>A	CA501351980	SOX9	c.717C>A (p.Thr239=)	dbSNP
17	g.72123574C=	CA2273926343	SOX9	c.717C= (p.Thr239=)
17	g.72123574C>G	CA501351982	SOX9	c.717C>G (p.Thr239=)	dbSNP
17	g.72123574C>T	CA8739010	SOX9	c.717C>T (p.Thr239=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123574_72123575insCCCCCCCCAA	CA2580612136	SOX9	c.717_718insCCCCCCCCAA (p.Thr240ProfsTer15)	gnomAD v4
17	g.72123575A=	CA2273926344	SOX9	c.718A= (p.Thr240=)
17	g.72123575A>C	CA400866900	SOX9	c.718A>C (p.Thr240Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123575A>G	CA400866901	SOX9	c.718A>G (p.Thr240Ala)	gnomAD v4
17	g.72123575A>T	CA400866902	SOX9	c.718A>T (p.Thr240Ser)
17	g.72123575_72123576delinsAC	CA2273926345	SOX9	c.718_719delinsAC (p.Thr240=)
17	g.72123575_72123576insAC	CA2639603119	SOX9	c.718_719insAC (p.Thr240AsnfsTer14)	gnomAD v4
17	g.72123576C>A	CA400866903	SOX9	c.719C>A (p.Thr240Asn)	dbSNP
17	g.72123576C=	CA2273926346	SOX9	c.719C= (p.Thr240=)
17	g.72123576C>G	CA8739011	SOX9	c.719C>G (p.Thr240Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123576C>T	CA400866904	SOX9	c.719C>T (p.Thr240Ile)	dbSNP
17	g.72123580dup	CA627589968	SOX9	c.723dup (p.Lys242GlnfsTer10)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123580del	CA915952173	SOX9	c.723del (p.Thr243ProfsTer10)	ClinVar dbSNP
17	g.72123579_72123580del	CA2810344953	SOX9	c.722_723del (p.Pro241GlnfsTer10)
17	g.72123577C>A	CA501351983	SOX9	c.720C>A (p.Thr240=)	dbSNP
17	g.72123577C>G	CA501351984	SOX9	c.720C>G (p.Thr240=)
17	g.72123577C>T	CA501351985	SOX9	c.720C>T (p.Thr240=)	dbSNP gnomAD v4
17	g.72123578C>A	CA400866907	SOX9	c.721C>A (p.Pro241Thr)	dbSNP
17	g.72123578C=	CA2273926347	SOX9	c.721C= (p.Pro241=)
17	g.72123578C>G	CA400866906	SOX9	c.721C>G (p.Pro241Ala)
17	g.72123578C>T	CA400866905	SOX9	c.721C>T (p.Pro241Ser)	dbSNP gnomAD v2
17	g.72123579C>A	CA400866908	SOX9	c.722C>A (p.Pro241His)	dbSNP
17	g.72123579C>G	CA400866909	SOX9	c.722C>G (p.Pro241Arg)	dbSNP
17	g.72123579C>T	CA400866910	SOX9	c.722C>T (p.Pro241Leu)	dbSNP
17	g.72123580_72123581insCAAACC	CA2639603120	SOX9	c.723_724insCAAACC (p.Pro241_Lys242insGlnThr)	gnomAD v4
17	g.72123580C>A	CA501351986	SOX9	c.723C>A (p.Pro241=)
17	g.72123580C>G	CA501351987	SOX9	c.723C>G (p.Pro241=)
17	g.72123580C>T	CA501351988	SOX9	c.723C>T (p.Pro241=)	dbSNP COSMIC
17	g.72123580_72123581insCAAAACCAC	CA2639603121	SOX9	c.723_724insCAAAACCAC (p.Pro241_Lys242insGlnAsnHis)	gnomAD v4
17	g.72123581A=	CA2273926348	SOX9	c.724A= (p.Lys242=)
17	g.72123581A>C	CA400866911	SOX9	c.724A>C (p.Lys242Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123581A>G	CA400866912	SOX9	c.724A>G (p.Lys242Glu)
17	g.72123581A>T	CA400866913	SOX9	c.724A>T (p.Lys242Ter)
17	g.72123581_72123584del	CA2639603122	SOX9	c.724_727del (p.Lys242ProfsTer10)	gnomAD v4
17	g.72123582_72123584del	CA2810344954	SOX9	c.725_727del (p.Lys242del)
17	g.72123582A>C	CA400866916	SOX9	c.725A>C (p.Lys242Thr)	dbSNP gnomAD v3 gnomAD v4
17	g.72123582A>G	CA400866914	SOX9	c.725A>G (p.Lys242Arg)
17	g.72123582A>T	CA400866915	SOX9	c.725A>T (p.Lys242Ile)
17	g.72123583A>C	CA400866917	SOX9	c.726A>C (p.Lys242Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.72123583A>G	CA501351989	SOX9	c.726A>G (p.Lys242=)
17	g.72123583A>T	CA400866918	SOX9	c.726A>T (p.Lys242Asn)	dbSNP
17	g.72123583_72123584insCCC	CA2639603123	SOX9	c.726_727insCCC (p.Lys242_Thr243insPro)	gnomAD v4
17	g.72123583_72123584insCACACCCAACAC	CA2810344955	SOX9	c.726_727insCACACCCAACAC (p.Lys242_Thr243insHisThrGlnHis)
17	g.72123584A=	CA2273926349	SOX9	c.727A= (p.Thr243=)
17	g.72123584A>C	CA400866919	SOX9	c.727A>C (p.Thr243Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.72123584A>G	CA400866920	SOX9	c.727A>G (p.Thr243Ala)	dbSNP
17	g.72123584A>T	CA400866921	SOX9	c.727A>T (p.Thr243Ser)	dbSNP
17	g.72123585C>A	CA400866922	SOX9	c.728C>A (p.Thr243Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.72123585C>G	CA400866924	SOX9	c.728C>G (p.Thr243Ser)	dbSNP
17	g.72123585C>T	CA400866923	SOX9	c.728C>T (p.Thr243Ile)	dbSNP
17	g.72123585_72123586insACACC	CA2810344956	SOX9	c.728_729insACACC (p.Asp244HisfsTer11)
17	g.72123586C>A	CA501351990	SOX9	c.729C>A (p.Thr243=)	dbSNP
17	g.72123586C=	CA2273926350	SOX9	c.729C= (p.Thr243=)
17	g.72123586C>G	CA501351991	SOX9	c.729C>G (p.Thr243=)	dbSNP
17	g.72123586C>T	CA501351992	SOX9	c.729C>T (p.Thr243=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123587del	CA2597776577	SOX9	c.730del (p.Asp244ThrfsTer9)	gnomAD v3 gnomAD v4
17	g.72123587G>A	CA400866925	SOX9	c.730G>A (p.Asp244Asn)	gnomAD v4
17	g.72123587G>C	CA400866926	SOX9	c.730G>C (p.Asp244His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123587G=	CA2273926351	SOX9	c.730G= (p.Asp244=)
17	g.72123587G>T	CA400866927	SOX9	c.730G>T (p.Asp244Tyr)
17	g.72123588A>C	CA400866928	SOX9	c.731A>C (p.Asp244Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.72123588A>G	CA400866929	SOX9	c.731A>G (p.Asp244Gly)	dbSNP
17	g.72123588A>T	CA400866930	SOX9	c.731A>T (p.Asp244Val)	dbSNP
17	g.72123589C>A	CA400866931	SOX9	c.732C>A (p.Asp244Glu)	dbSNP
17	g.72123589C>G	CA400866932	SOX9	c.732C>G (p.Asp244Glu)	dbSNP
17	g.72123589C>T	CA501351994	SOX9	c.732C>T (p.Asp244=)	dbSNP gnomAD v4
17	g.72123590G>A	CA8739012	SOX9	c.733G>A (p.Val245Met)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123590G>C	CA400866933	SOX9	c.733G>C (p.Val245Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.72123590G=	CA2273926352	SOX9	c.733G= (p.Val245=)
17	g.72123590G>T	CA400866934	SOX9	c.733G>T (p.Val245Leu)	dbSNP gnomAD v2
17	g.72123591T>A	CA400866935	SOX9	c.734T>A (p.Val245Glu)
17	g.72123591T>C	CA400866937	SOX9	c.734T>C (p.Val245Ala)	dbSNP gnomAD v4
17	g.72123591T>G	CA400866936	SOX9	c.734T>G (p.Val245Gly)	dbSNP gnomAD v4
17	g.72123592G>A	CA501351995	SOX9	c.735G>A (p.Val245=)	dbSNP
17	g.72123592G>C	CA501351996	SOX9	c.735G>C (p.Val245=)	dbSNP
17	g.72123592G=	CA2273926353	SOX9	c.735G= (p.Val245=)
17	g.72123592G>T	CA501351997	SOX9	c.735G>T (p.Val245=)
17	g.72123593C>A	CA400866938	SOX9	c.736C>A (p.Gln246Lys)
17	g.72123593C>G	CA400866940	SOX9	c.736C>G (p.Gln246Glu)	dbSNP
17	g.72123593C>T	CA400866939	SOX9	c.736C>T (p.Gln246Ter)	dbSNP
17	g.72123593dup	CA115582	SOX9	c.736dup (p.Gln246ProfsTer6)	ClinVar dbSNP
17	g.72123594A=	CA2273926355	SOX9	c.737A= (p.Gln246=)
17	g.72123594A>C	CA8739013	SOX9	c.737A>C (p.Gln246Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123594A>G	CA400866941	SOX9	c.737A>G (p.Gln246Arg)	dbSNP
17	g.72123594A>T	CA400866942	SOX9	c.737A>T (p.Gln246Leu)	dbSNP gnomAD v4
17	g.72123594_72123595delinsAG	CA2273926354	SOX9	c.737_738delinsAG (p.Gln246=)
17	g.72123595del	CA16620597	SOX9	c.738del (p.Gln246HisfsTer7)	ClinVar dbSNP
17	g.72123595G>A	CA501351998	SOX9	c.738G>A (p.Gln246=)	dbSNP
17	g.72123595G>C	CA400866943	SOX9	c.738G>C (p.Gln246His)	dbSNP gnomAD v4
17	g.72123595G>T	CA400866944	SOX9	c.738G>T (p.Gln246His)	gnomAD v4
17	g.72123596C>A	CA8739014	SOX9	c.739C>A (p.Pro247Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123596C=	CA2273926356	SOX9	c.739C= (p.Pro247=)
17	g.72123596C>G	CA400866946	SOX9	c.739C>G (p.Pro247Ala)	dbSNP
17	g.72123596C>T	CA400866945	SOX9	c.739C>T (p.Pro247Ser)	dbSNP
17	g.72123597C>A	CA400866947	SOX9	c.740C>A (p.Pro247Gln)
17	g.72123597C=	CA2273926357	SOX9	c.740C= (p.Pro247=)
17	g.72123597C>G	CA400866948	SOX9	c.740C>G (p.Pro247Arg)	dbSNP
17	g.72123597C>T	CA400866949	SOX9	c.740C>T (p.Pro247Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72123598_72123610del	CA2580060342	SOX9	c.741_753del (p.Gly248Ter)
17	g.72123598G>A	CA501351999	SOX9	c.741G>A (p.Pro247=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123598G>C	CA501352000	SOX9	c.741G>C (p.Pro247=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123598G=	CA2273926358	SOX9	c.741G= (p.Pro247=)
17	g.72123598G>T	CA501352001	SOX9	c.741G>T (p.Pro247=)	dbSNP COSMIC
17	g.72123599G>A	CA400866950	SOX9	c.742G>A (p.Gly248Ser)	dbSNP
17	g.72123599G>C	CA400866951	SOX9	c.742G>C (p.Gly248Arg)	dbSNP
17	g.72123599G>T	CA400866952	SOX9	c.742G>T (p.Gly248Cys)	dbSNP
17	g.72123600G>A	CA400866953	SOX9	c.743G>A (p.Gly248Asp)	dbSNP gnomAD v4
17	g.72123600G>C	CA400866955	SOX9	c.743G>C (p.Gly248Ala)	dbSNP
17	g.72123600G>T	CA400866954	SOX9	c.743G>T (p.Gly248Val)	COSMIC
17	g.72123600_72123601dup	CA645598914	SOX9	c.743_744dup (p.Lys249AlafsTer5)	COSMIC
17	g.72123601C>A	CA501352002	SOX9	c.744C>A (p.Gly248=)	dbSNP
17	g.72123601C=	CA2273926359	SOX9	c.744C= (p.Gly248=)
17	g.72123601C>G	CA501352003	SOX9	c.744C>G (p.Gly248=)	dbSNP
17	g.72123601C>T	CA501352004	SOX9	c.744C>T (p.Gly248=)	dbSNP
17	g.72123602A=	CA2273926360	SOX9	c.745A= (p.Lys249=)
17	g.72123602A>C	CA400866956	SOX9	c.745A>C (p.Lys249Gln)	dbSNP gnomAD v4
17	g.72123602A>G	CA400866957	SOX9	c.745A>G (p.Lys249Glu)	dbSNP
17	g.72123602A>T	CA400866958	SOX9	c.745A>T (p.Lys249Ter)
17	g.72123603A>C	CA400866959	SOX9	c.746A>C (p.Lys249Thr)
17	g.72123603A>G	CA400866960	SOX9	c.746A>G (p.Lys249Arg)	dbSNP
17	g.72123603A>T	CA400866961	SOX9	c.746A>T (p.Lys249Met)	dbSNP
17	g.72123604G>A	CA501352006	SOX9	c.747G>A (p.Lys249=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123604G>C	CA400866962	SOX9	c.747G>C (p.Lys249Asn)	gnomAD v4
17	g.72123604G=	CA2273926361	SOX9	c.747G= (p.Lys249=)
17	g.72123604G>T	CA400866963	SOX9	c.747G>T (p.Lys249Asn)	dbSNP
17	g.72123605G>A	CA400866964	SOX9	c.748G>A (p.Ala250Thr)	dbSNP
17	g.72123605G>C	CA400866965	SOX9	c.748G>C (p.Ala250Pro)	dbSNP
17	g.72123605G>T	CA400866966	SOX9	c.748G>T (p.Ala250Ser)
17	g.72123606C>A	CA400866967	SOX9	c.749C>A (p.Ala250Asp)	dbSNP
17	g.72123606C>G	CA400866969	SOX9	c.749C>G (p.Ala250Gly)	dbSNP
17	g.72123606C>T	CA400866968	SOX9	c.749C>T (p.Ala250Val)	dbSNP
17	g.72123607T>A	CA501352009	SOX9	c.750T>A (p.Ala250=)	dbSNP
17	g.72123607T>C	CA501352007	SOX9	c.750T>C (p.Ala250=)	dbSNP
17	g.72123607T>G	CA501352008	SOX9	c.750T>G (p.Ala250=)	dbSNP
17	g.72123608G>A	CA400866970	SOX9	c.751G>A (p.Asp251Asn)	dbSNP
17	g.72123608G>C	CA400866971	SOX9	c.751G>C (p.Asp251His)	dbSNP
17	g.72123608G=	CA2273926362	SOX9	c.751G= (p.Asp251=)
17	g.72123608G>T	CA8739015	SOX9	c.751G>T (p.Asp251Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123609A>C	CA400866972	SOX9	c.752A>C (p.Asp251Ala)	dbSNP
17	g.72123609A>G	CA400866973	SOX9	c.752A>G (p.Asp251Gly)	dbSNP
17	g.72123609A>T	CA400866974	SOX9	c.752A>T (p.Asp251Val)	dbSNP
17	g.72123610C>A	CA400866975	SOX9	c.753C>A (p.Asp251Glu)
17	g.72123610C>G	CA400866976	SOX9	c.753C>G (p.Asp251Glu)	dbSNP
17	g.72123610C>T	CA501352010	SOX9	c.753C>T (p.Asp251=)
17	g.72123611C>A	CA400866977	SOX9	c.754C>A (p.Leu252Met)	dbSNP
17	g.72123611C>G	CA400866978	SOX9	c.754C>G (p.Leu252Val)
17	g.72123611C>T	CA501352011	SOX9	c.754C>T (p.Leu252=)
17	g.72123612T>A	CA400866979	SOX9	c.755T>A (p.Leu252Gln)	dbSNP gnomAD v4
17	g.72123612T>C	CA8739016	SOX9	c.755T>C (p.Leu252Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123612T>G	CA400866980	SOX9	c.755T>G (p.Leu252Arg)
17	g.72123612T=	CA2273926363	SOX9	c.755T= (p.Leu252=)
17	g.72123613G>A	CA501352012	SOX9	c.756G>A (p.Leu252=)	dbSNP
17	g.72123613G>C	CA501352013	SOX9	c.756G>C (p.Leu252=)	dbSNP gnomAD v4
17	g.72123613G>T	CA501352014	SOX9	c.756G>T (p.Leu252=)
17	g.72123614A>C	CA400866981	SOX9	c.757A>C (p.Lys253Gln)
17	g.72123614A>G	CA400866983	SOX9	c.757A>G (p.Lys253Glu)	dbSNP
17	g.72123614A>T	CA400866982	SOX9	c.757A>T (p.Lys253Ter)
17	g.72123615A>C	CA400866984	SOX9	c.758A>C (p.Lys253Thr)
17	g.72123615A>G	CA400866985	SOX9	c.758A>G (p.Lys253Arg)	dbSNP
17	g.72123615A>T	CA400866986	SOX9	c.758A>T (p.Lys253Met)	dbSNP
17	g.72123616G>A	CA501352017	SOX9	c.759G>A (p.Lys253=)	dbSNP
17	g.72123616G>C	CA400866987	SOX9	c.759G>C (p.Lys253Asn)	dbSNP
17	g.72123616G>T	CA400866988	SOX9	c.759G>T (p.Lys253Asn)
17	g.72123619_72123627del	CA2576374513	SOX9	c.762_770del (p.Glu255_Arg257del)
17	g.72123617C>A	CA501352018	SOX9	c.760C>A (p.Arg254=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123617C=	CA2273926364	SOX9	c.760C= (p.Arg254=)
17	g.72123617C>G	CA400866989	SOX9	c.760C>G (p.Arg254Gly)	gnomAD v4
17	g.72123617C>T	CA400866990	SOX9	c.760C>T (p.Arg254Ter)	ClinVar dbSNP COSMIC
17	g.72123618G>A	CA400866991	SOX9	c.761G>A (p.Arg254Gln)	gnomAD v4 COSMIC
17	g.72123618G>C	CA8739018	SOX9	c.761G>C (p.Arg254Pro)	dbSNP ExAC gnomAD v4
17	g.72123618G=	CA2273926365	SOX9	c.761G= (p.Arg254=)
17	g.72123618G>T	CA8739017	SOX9	c.761G>T (p.Arg254Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123621_72123622del	CA645598915	SOX9	c.764_765del (p.Glu255GlyfsTer?)	COSMIC
17	g.72123619A>C	CA501352019	SOX9	c.762A>C (p.Arg254=)
17	g.72123619A>G	CA501352020	SOX9	c.762A>G (p.Arg254=)	dbSNP
17	g.72123619A>T	CA501352021	SOX9	c.762A>T (p.Arg254=)	dbSNP
17	g.72123620G>A	CA400866993	SOX9	c.763G>A (p.Glu255Lys)	ClinVar dbSNP
17	g.72123620G>C	CA400866994	SOX9	c.763G>C (p.Glu255Gln)
17	g.72123620G>T	CA400866992	SOX9	c.763G>T (p.Glu255Ter)	dbSNP
17	g.72123621A>C	CA400866997	SOX9	c.764A>C (p.Glu255Ala)
17	g.72123621A>G	CA400866995	SOX9	c.764A>G (p.Glu255Gly)	dbSNP
17	g.72123621A>T	CA400866996	SOX9	c.764A>T (p.Glu255Val)	dbSNP
17	g.72123622G>A	CA8739019	SOX9	c.765G>A (p.Glu255=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123622G>C	CA400866998	SOX9	c.765G>C (p.Glu255Asp)
17	g.72123622G=	CA2273926366	SOX9	c.765G= (p.Glu255=)
17	g.72123622G>T	CA400866999	SOX9	c.765G>T (p.Glu255Asp)	dbSNP
17	g.72123625dup	CA501352022	SOX9	c.768dup (p.Arg257AlafsTer?)	COSMIC
17	g.72123624_72123625dup	CA645598916	SOX9	c.767_768dup (p.Arg257GlyfsTer23)	COSMIC COSMIC
17	g.72123623_72123627dup	CA645598917	SOX9	c.766_770dup (p.Pro258GlyfsTer23)	COSMIC
17	g.72123623G>A	CA400867002	SOX9	c.766G>A (p.Gly256Arg)	dbSNP
17	g.72123623G>C	CA400867001	SOX9	c.766G>C (p.Gly256Arg)	dbSNP
17	g.72123623G>T	CA400867000	SOX9	c.766G>T (p.Gly256Trp)	dbSNP
17	g.72123623_72123646dup	CA627589978	SOX9	c.766_789dup (p.Gly263_Arg264insGlyArgProLeuProGluGlyGly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123624G>A	CA400867003	SOX9	c.767G>A (p.Gly256Glu)	dbSNP
17	g.72123624G>C	CA400867004	SOX9	c.767G>C (p.Gly256Ala)	dbSNP
17	g.72123624G>T	CA400867005	SOX9	c.767G>T (p.Gly256Val)	dbSNP
17	g.72123624_72123628dup	CA2695226896	SOX9	c.767_771dup (p.Pro258GlyfsTer23)
17	g.72123625G>A	CA501352025	SOX9	c.768G>A (p.Gly256=)	dbSNP gnomAD v4
17	g.72123625G>C	CA501352023	SOX9	c.768G>C (p.Gly256=)	dbSNP gnomAD v4
17	g.72123625G>T	CA501352024	SOX9	c.768G>T (p.Gly256=)
17	g.72123627_72123628dup	CA645598918	SOX9	c.770_771dup (p.Pro258AlafsTer22)	COSMIC
17	g.72123626C>A	CA400867006	SOX9	c.769C>A (p.Arg257Ser)	dbSNP
17	g.72123626C>G	CA400867007	SOX9	c.769C>G (p.Arg257Gly)	dbSNP
17	g.72123626C>T	CA400867008	SOX9	c.769C>T (p.Arg257Cys)	dbSNP gnomAD v4
17	g.72123627G>A	CA400867009	SOX9	c.770G>A (p.Arg257His)	dbSNP gnomAD v4 COSMIC
17	g.72123627G>C	CA400867011	SOX9	c.770G>C (p.Arg257Pro)	dbSNP gnomAD v2
17	g.72123627G=	CA2273926367	SOX9	c.770G= (p.Arg257=)
17	g.72123627G>T	CA400867010	SOX9	c.770G>T (p.Arg257Leu)
17	g.72123628C>A	CA501352028	SOX9	c.771C>A (p.Arg257=)	dbSNP
17	g.72123628C>G	CA501352027	SOX9	c.771C>G (p.Arg257=)	dbSNP
17	g.72123628C>T	CA501352026	SOX9	c.771C>T (p.Arg257=)	dbSNP gnomAD v4
17	g.72123631del	CA645598920	SOX9	c.774del (p.Leu259CysfsTer20)	COSMIC
17	g.72123629C>A	CA400867012	SOX9	c.772C>A (p.Pro258Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.72123629C=	CA2273926368	SOX9	c.772C= (p.Pro258=)
17	g.72123629C>G	CA400867013	SOX9	c.772C>G (p.Pro258Ala)
17	g.72123629C>T	CA400867014	SOX9	c.772C>T (p.Pro258Ser)	ClinVar gnomAD v4
17	g.72123630C>A	CA400867015	SOX9	c.773C>A (p.Pro258His)	dbSNP
17	g.72123630C=	CA2273926369	SOX9	c.773C= (p.Pro258=)
17	g.72123630C>G	CA8739020	SOX9	c.773C>G (p.Pro258Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123630C>T	CA8739021	SOX9	c.773C>T (p.Pro258Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123631C>A	CA501352029	SOX9	c.774C>A (p.Pro258=)	dbSNP
17	g.72123631C>G	CA501352031	SOX9	c.774C>G (p.Pro258=)	dbSNP
17	g.72123631C>T	CA501352030	SOX9	c.774C>T (p.Pro258=)	dbSNP gnomAD v4
17	g.72123632T>A	CA400867016	SOX9	c.775T>A (p.Leu259Met)
17	g.72123632T>C	CA501352032	SOX9	c.775T>C (p.Leu259=)	dbSNP
17	g.72123632T>G	CA400867017	SOX9	c.775T>G (p.Leu259Val)
17	g.72123632T=	CA2273926370	SOX9	c.775T= (p.Leu259=)
17	g.72123633T>A	CA400867018	SOX9	c.776T>A (p.Leu259Ter)
17	g.72123633T>C	CA400867019	SOX9	c.776T>C (p.Leu259Ser)
17	g.72123633T>G	CA400867020	SOX9	c.776T>G (p.Leu259Trp)
17	g.72123634G>A	CA501352034	SOX9	c.777G>A (p.Leu259=)
17	g.72123634G>C	CA400867022	SOX9	c.777G>C (p.Leu259Phe)
17	g.72123634G>T	CA400867021	SOX9	c.777G>T (p.Leu259Phe)
17	g.72123635C>A	CA400867023	SOX9	c.778C>A (p.Pro260Thr)
17	g.72123635C>G	CA400867024	SOX9	c.778C>G (p.Pro260Ala)
17	g.72123635C>T	CA400867025	SOX9	c.778C>T (p.Pro260Ser)
17	g.72123636C>A	CA400867026	SOX9	c.779C>A (p.Pro260Gln)	dbSNP
17	g.72123636C=	CA2273926371	SOX9	c.779C= (p.Pro260=)
17	g.72123636C>G	CA400867027	SOX9	c.779C>G (p.Pro260Arg)	dbSNP
17	g.72123636C>T	CA400867028	SOX9	c.779C>T (p.Pro260Leu)	dbSNP
17	g.72123637A=	CA2273926372	SOX9	c.780A= (p.Pro260=)
17	g.72123637A>C	CA501352035	SOX9	c.780A>C (p.Pro260=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123637A>G	CA501352036	SOX9	c.780A>G (p.Pro260=)	dbSNP
17	g.72123637A>T	CA501352037	SOX9	c.780A>T (p.Pro260=)	dbSNP
17	g.72123638G>A	CA400867031	SOX9	c.781G>A (p.Glu261Lys)	dbSNP
17	g.72123638G>C	CA400867030	SOX9	c.781G>C (p.Glu261Gln)	dbSNP
17	g.72123638G=	CA2273926373	SOX9	c.781G= (p.Glu261=)
17	g.72123638G>T	CA400867029	SOX9	c.781G>T (p.Glu261Ter)	ClinVar dbSNP
17	g.72123639A=	CA2273926374	SOX9	c.782A= (p.Glu261=)
17	g.72123639A>C	CA400867032	SOX9	c.782A>C (p.Glu261Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123639A>G	CA400867033	SOX9	c.782A>G (p.Glu261Gly)
17	g.72123639A>T	CA400867034	SOX9	c.782A>T (p.Glu261Val)
17	g.72123639_72123640delinsAG	CA2273926375	SOX9	c.782_783delinsAG (p.Glu261=)
17	g.72123640G>A	CA8739022	SOX9	c.783G>A (p.Glu261=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123640G>C	CA8739023	SOX9	c.783G>C (p.Glu261Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123640G=	CA2273926376	SOX9	c.783G= (p.Glu261=)
17	g.72123640G>T	CA293783338	SOX9	c.783G>T (p.Glu261Asp)	dbSNP
17	g.72123645dup	CA501352038	SOX9	c.788dup (p.Arg264GlnfsTer?)	ClinVar dbSNP COSMIC
17	g.72123645del	CA627589979	SOX9	c.788del (p.Gly263AlafsTer16)	ClinVar dbSNP gnomAD v2 COSMIC
17	g.72123641G>A	CA400867035	SOX9	c.784G>A (p.Gly262Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.72123641G>C	CA8739024	SOX9	c.784G>C (p.Gly262Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123641G=	CA2273926377	SOX9	c.784G= (p.Gly262=)
17	g.72123641G>T	CA400867036	SOX9	c.784G>T (p.Gly262Trp)	dbSNP
17	g.72123642G>A	CA400867037	SOX9	c.785G>A (p.Gly262Glu)	dbSNP
17	g.72123642G>C	CA400867038	SOX9	c.785G>C (p.Gly262Ala)
17	g.72123642G=	CA2273926378	SOX9	c.785G= (p.Gly262=)
17	g.72123642G>T	CA400867039	SOX9	c.785G>T (p.Gly262Val)	ClinVar dbSNP gnomAD v4
17	g.72123643G>A	CA501352039	SOX9	c.786G>A (p.Gly262=)	dbSNP
17	g.72123643G>C	CA501352040	SOX9	c.786G>C (p.Gly262=)
17	g.72123643G=	CA2273926379	SOX9	c.786G= (p.Gly262=)
17	g.72123643G>T	CA501352041	SOX9	c.786G>T (p.Gly262=)	dbSNP
17	g.72123644G>A	CA8739025	SOX9	c.787G>A (p.Gly263Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123644G>C	CA400867040	SOX9	c.787G>C (p.Gly263Arg)
17	g.72123644G=	CA2273926380	SOX9	c.787G= (p.Gly263=)
17	g.72123644G>T	CA400867041	SOX9	c.787G>T (p.Gly263Cys)	dbSNP gnomAD v4
17	g.72123644_72123664del	CA2695226897	SOX9	c.787_807del (p.Gly263_Asp269del)
17	g.72123645G>A	CA400867042	SOX9	c.788G>A (p.Gly263Asp)	dbSNP gnomAD v4
17	g.72123645G>C	CA400867043	SOX9	c.788G>C (p.Gly263Ala)	dbSNP
17	g.72123645G=	CA2273926381	SOX9	c.788G= (p.Gly263=)
17	g.72123645G>T	CA8739026	SOX9	c.788G>T (p.Gly263Val)	ClinVar dbSNP ExAC gnomAD v4
17	g.72123646del	CA2695226898	SOX9	c.789del (p.Arg264AspfsTer15)
17	g.72123646C>A	CA501352044	SOX9	c.789C>A (p.Gly263=)	ClinVar
17	g.72123646C>G	CA501352042	SOX9	c.789C>G (p.Gly263=)	dbSNP
17	g.72123646C>T	CA501352043	SOX9	c.789C>T (p.Gly263=)	dbSNP
17	g.72123647A>C	CA501352046	SOX9	c.790A>C (p.Arg264=)	dbSNP
17	g.72123647A>G	CA400867044	SOX9	c.790A>G (p.Arg264Gly)	dbSNP gnomAD v4
17	g.72123647A>T	CA400867045	SOX9	c.790A>T (p.Arg264Ter)	ClinVar
17	g.72123648G>A	CA8739027	SOX9	c.791G>A (p.Arg264Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123648G>C	CA400867047	SOX9	c.791G>C (p.Arg264Thr)	dbSNP COSMIC
17	g.72123648G=	CA2273926382	SOX9	c.791G= (p.Arg264=)
17	g.72123648G>T	CA400867046	SOX9	c.791G>T (p.Arg264Ile)
17	g.72123649A>C	CA400867048	SOX9	c.792A>C (p.Arg264Ser)	dbSNP
17	g.72123649A>G	CA501352047	SOX9	c.792A>G (p.Arg264=)	dbSNP
17	g.72123649A>T	CA400867049	SOX9	c.792A>T (p.Arg264Ser)	dbSNP
17	g.72123650C>A	CA400867050	SOX9	c.793C>A (p.Gln265Lys)	dbSNP
17	g.72123650C=	CA2273926383	SOX9	c.793C= (p.Gln265=)
17	g.72123650C>G	CA293783351	SOX9	c.793C>G (p.Gln265Glu)	dbSNP
17	g.72123650C>T	CA400867051	SOX9	c.793C>T (p.Gln265Ter)	dbSNP COSMIC
17	g.72123651A>C	CA400867052	SOX9	c.794A>C (p.Gln265Pro)
17	g.72123651A>G	CA400867054	SOX9	c.794A>G (p.Gln265Arg)	dbSNP
17	g.72123651A>T	CA400867053	SOX9	c.794A>T (p.Gln265Leu)	dbSNP
17	g.72123652G>A	CA501352048	SOX9	c.795G>A (p.Gln265=)	dbSNP
17	g.72123652G>C	CA400867055	SOX9	c.795G>C (p.Gln265His)
17	g.72123652G=	CA2273926384	SOX9	c.795G= (p.Gln265=)
17	g.72123652G>T	CA400867056	SOX9	c.795G>T (p.Gln265His)
17	g.72123653C>A	CA400867057	SOX9	c.796C>A (p.Pro266Thr)	dbSNP
17	g.72123653C>G	CA400867058	SOX9	c.796C>G (p.Pro266Ala)	dbSNP
17	g.72123653C>T	CA400867059	SOX9	c.796C>T (p.Pro266Ser)	dbSNP
17	g.72123657dup	CA1139665863	SOX9	c.800dup (p.Ile268TyrfsTer28)
17	g.72123657del	CA645598922	SOX9	c.800del (p.Pro267LeufsTer12)	COSMIC
17	g.72123654C>A	CA400867060	SOX9	c.797C>A (p.Pro266His)	dbSNP
17	g.72123654C=	CA2273926385	SOX9	c.797C= (p.Pro266=)
17	g.72123654C>G	CA400867061	SOX9	c.797C>G (p.Pro266Arg)
17	g.72123654C>T	CA400867062	SOX9	c.797C>T (p.Pro266Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123655C>A	CA501352049	SOX9	c.798C>A (p.Pro266=)	dbSNP
17	g.72123655C=	CA2273926386	SOX9	c.798C= (p.Pro266=)
17	g.72123655C>G	CA501352050	SOX9	c.798C>G (p.Pro266=)	dbSNP gnomAD v4
17	g.72123655C>T	CA8739028	SOX9	c.798C>T (p.Pro266=)	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched