Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72123670C>A	CA501352058	SOX9	c.813C>A (p.Arg271=)	ClinVar dbSNP gnomAD v4
17	g.72123670C=	CA2273926392	SOX9	c.813C= (p.Arg271=)
17	g.72123670C>G	CA501352059	SOX9	c.813C>G (p.Arg271=)	dbSNP
17	g.72123670C>T	CA501352060	SOX9	c.813C>T (p.Arg271=)	dbSNP gnomAD v4
17	g.72123671G>A	CA400867095	SOX9	c.814G>A (p.Asp272Asn)	dbSNP gnomAD v4
17	g.72123671G>C	CA400867096	SOX9	c.814G>C (p.Asp272His)	dbSNP
17	g.72123671G>T	CA400867097	SOX9	c.814G>T (p.Asp272Tyr)	COSMIC
17	g.72123673_72123674insTCCGTGAC	CA2580095140	SOX9	c.816_817insTCCGTGAC (p.Val273SerfsTer9)	ClinVar
17	g.72123672A>C	CA400867098	SOX9	c.815A>C (p.Asp272Ala)	dbSNP
17	g.72123672A>G	CA400867099	SOX9	c.815A>G (p.Asp272Gly)	dbSNP
17	g.72123672A>T	CA400867100	SOX9	c.815A>T (p.Asp272Val)	dbSNP
17	g.72123673C>A	CA400867101	SOX9	c.816C>A (p.Asp272Glu)	dbSNP
17	g.72123673C=	CA2273926393	SOX9	c.816C= (p.Asp272=)
17	g.72123673C>G	CA400867102	SOX9	c.816C>G (p.Asp272Glu)	dbSNP
17	g.72123673C>T	CA8739033	SOX9	c.816C>T (p.Asp272=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123674G>A	CA400867103	SOX9	c.817G>A (p.Val273Met)	dbSNP gnomAD v4
17	g.72123674G>C	CA293783383	SOX9	c.817G>C (p.Val273Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123674G=	CA2273926394	SOX9	c.817G= (p.Val273=)
17	g.72123674G>T	CA400867104	SOX9	c.817G>T (p.Val273Leu)
17	g.72123675_72123676dup	CA645598923	SOX9	c.818_819dup (p.Asp274TrpfsTer6)	COSMIC
17	g.72123675T>A	CA400867106	SOX9	c.818T>A (p.Val273Glu)
17	g.72123675T>C	CA400867107	SOX9	c.818T>C (p.Val273Ala)	dbSNP
17	g.72123675T>G	CA400867105	SOX9	c.818T>G (p.Val273Gly)	dbSNP
17	g.72123675T=	CA2273926395	SOX9	c.818T= (p.Val273=)
17	g.72123676G>A	CA501352061	SOX9	c.819G>A (p.Val273=)	dbSNP gnomAD v4
17	g.72123676G>C	CA501352062	SOX9	c.819G>C (p.Val273=)	dbSNP
17	g.72123676G=	CA2273926396	SOX9	c.819G= (p.Val273=)
17	g.72123676G>T	CA501352063	SOX9	c.819G>T (p.Val273=)
17	g.72123677_72123686del	CA2695226899	SOX9	c.820_829del (p.Asp274SerfsTer2)
17	g.72123677G>A	CA400867108	SOX9	c.820G>A (p.Asp274Asn)	dbSNP gnomAD v4
17	g.72123677G>C	CA400867110	SOX9	c.820G>C (p.Asp274His)	dbSNP
17	g.72123677G>T	CA400867109	SOX9	c.820G>T (p.Asp274Tyr)
17	g.72123678A>C	CA400867111	SOX9	c.821A>C (p.Asp274Ala)	dbSNP
17	g.72123678A>G	CA400867112	SOX9	c.821A>G (p.Asp274Gly)	dbSNP
17	g.72123678A>T	CA400867113	SOX9	c.821A>T (p.Asp274Val)	dbSNP
17	g.72123679C>A	CA400867114	SOX9	c.822C>A (p.Asp274Glu)	dbSNP
17	g.72123679C=	CA2273926397	SOX9	c.822C= (p.Asp274=)
17	g.72123679C>G	CA400867115	SOX9	c.822C>G (p.Asp274Glu)	dbSNP
17	g.72123679C>T	CA501352064	SOX9	c.822C>T (p.Asp274=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123680A>C	CA400867116	SOX9	c.823A>C (p.Ile275Leu)	dbSNP
17	g.72123680A>G	CA400867117	SOX9	c.823A>G (p.Ile275Val)
17	g.72123680A>T	CA400867118	SOX9	c.823A>T (p.Ile275Phe)	dbSNP gnomAD v4
17	g.72123681T>A	CA400867119	SOX9	c.824T>A (p.Ile275Asn)	dbSNP
17	g.72123681T>C	CA400867120	SOX9	c.824T>C (p.Ile275Thr)
17	g.72123681T>G	CA400867121	SOX9	c.824T>G (p.Ile275Ser)	dbSNP
17	g.72123681T=	CA2273926398	SOX9	c.824T= (p.Ile275=)
17	g.72123682C>A	CA293783393	SOX9	c.825C>A (p.Ile275=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123682C=	CA2273926399	SOX9	c.825C= (p.Ile275=)
17	g.72123682C>G	CA400867122	SOX9	c.825C>G (p.Ile275Met)	dbSNP gnomAD v4
17	g.72123682C>T	CA8739034	SOX9	c.825C>T (p.Ile275=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123682dup	CA915952174	SOX9	c.825dup (p.Gly276ArgfsTer20)	ClinVar dbSNP
17	g.72123683G>A	CA400867123	SOX9	c.826G>A (p.Gly276Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123683G>C	CA8739035	SOX9	c.826G>C (p.Gly276Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123683G=	CA2273926400	SOX9	c.826G= (p.Gly276=)
17	g.72123683G>T	CA400867124	SOX9	c.826G>T (p.Gly276Cys)	dbSNP
17	g.72123684G>A	CA400867125	SOX9	c.827G>A (p.Gly276Asp)	dbSNP
17	g.72123684G>C	CA400867126	SOX9	c.827G>C (p.Gly276Ala)	dbSNP
17	g.72123684G>T	CA400867127	SOX9	c.827G>T (p.Gly276Val)	dbSNP
17	g.72123685C>A	CA501352065	SOX9	c.828C>A (p.Gly276=)	dbSNP
17	g.72123685C=	CA2273926401	SOX9	c.828C= (p.Gly276=)
17	g.72123685C>G	CA501352066	SOX9	c.828C>G (p.Gly276=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123685C>T	CA501352067	SOX9	c.828C>T (p.Gly276=)	dbSNP gnomAD v4
17	g.72123686G>A	CA400867128	SOX9	c.829G>A (p.Glu277Lys)	dbSNP gnomAD v4
17	g.72123686G>C	CA400867129	SOX9	c.829G>C (p.Glu277Gln)	dbSNP
17	g.72123686G>T	CA400867130	SOX9	c.829G>T (p.Glu277Ter)	ClinVar dbSNP COSMIC
17	g.72123687A>C	CA400867131	SOX9	c.830A>C (p.Glu277Ala)	dbSNP
17	g.72123687A>G	CA400867132	SOX9	c.830A>G (p.Glu277Gly)	dbSNP
17	g.72123687A>T	CA400867133	SOX9	c.830A>T (p.Glu277Val)	dbSNP
17	g.72123688G>A	CA293783406	SOX9	c.831G>A (p.Glu277=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123688G>C	CA8739036	SOX9	c.831G>C (p.Glu277Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123688G=	CA2273926402	SOX9	c.831G= (p.Glu277=)
17	g.72123688G>T	CA400867134	SOX9	c.831G>T (p.Glu277Asp)	dbSNP
17	g.72123689C>A	CA400867135	SOX9	c.832C>A (p.Leu278Met)	dbSNP
17	g.72123689C>G	CA400867136	SOX9	c.832C>G (p.Leu278Val)	dbSNP
17	g.72123689C>T	CA501352068	SOX9	c.832C>T (p.Leu278=)	dbSNP
17	g.72123690T>A	CA400867137	SOX9	c.833T>A (p.Leu278Gln)	dbSNP
17	g.72123690T>C	CA400867138	SOX9	c.833T>C (p.Leu278Pro)	dbSNP
17	g.72123690T>G	CA400867139	SOX9	c.833T>G (p.Leu278Arg)
17	g.72123691G>A	CA501352069	SOX9	c.834G>A (p.Leu278=)	dbSNP
17	g.72123691G>C	CA501352070	SOX9	c.834G>C (p.Leu278=)	dbSNP COSMIC
17	g.72123691G>T	CA501352071	SOX9	c.834G>T (p.Leu278=)	COSMIC
17	g.72123692A>C	CA400867140	SOX9	c.835A>C (p.Ser279Arg)
17	g.72123692A>G	CA400867141	SOX9	c.835A>G (p.Ser279Gly)	dbSNP
17	g.72123692A>T	CA400867142	SOX9	c.835A>T (p.Ser279Cys)	dbSNP gnomAD v4
17	g.72123693G>A	CA400867143	SOX9	c.836G>A (p.Ser279Asn)	dbSNP
17	g.72123693G>C	CA400867144	SOX9	c.836G>C (p.Ser279Thr)	dbSNP
17	g.72123693G>T	CA400867145	SOX9	c.836G>T (p.Ser279Ile)
17	g.72123694C>A	CA400867146	SOX9	c.837C>A (p.Ser279Arg)	dbSNP gnomAD v4
17	g.72123694C>G	CA400867147	SOX9	c.837C>G (p.Ser279Arg)	dbSNP
17	g.72123694C>T	CA501352072	SOX9	c.837C>T (p.Ser279=)	dbSNP gnomAD v4
17	g.72123695A=	CA2273926403	SOX9	c.838A= (p.Ser280=)
17	g.72123695A>C	CA400867148	SOX9	c.838A>C (p.Ser280Arg)
17	g.72123695A>G	CA8739037	SOX9	c.838A>G (p.Ser280Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123695A>T	CA400867149	SOX9	c.838A>T (p.Ser280Cys)	dbSNP gnomAD v4
17	g.72123696G>A	CA400867150	SOX9	c.839G>A (p.Ser280Asn)	dbSNP
17	g.72123696G>C	CA400867151	SOX9	c.839G>C (p.Ser280Thr)	dbSNP COSMIC
17	g.72123696G>T	CA400867152	SOX9	c.839G>T (p.Ser280Ile)
17	g.72123697C>A	CA400867153	SOX9	c.840C>A (p.Ser280Arg)	dbSNP
17	g.72123697C=	CA2273926404	SOX9	c.840C= (p.Ser280=)
17	g.72123697C>G	CA400867154	SOX9	c.840C>G (p.Ser280Arg)	dbSNP
17	g.72123697C>T	CA501352073	SOX9	c.840C>T (p.Ser280=)	dbSNP gnomAD v4 COSMIC
17	g.72123698G>A	CA400867155	SOX9	c.841G>A (p.Asp281Asn)	dbSNP
17	g.72123698G>C	CA400867156	SOX9	c.841G>C (p.Asp281His)	dbSNP
17	g.72123698G>T	CA400867157	SOX9	c.841G>T (p.Asp281Tyr)	COSMIC
17	g.72123698_72123699insCAA	CA2552488489	SOX9	c.841_842insCAA (p.Asp281delinsAlaAsn)
17	g.72123699A>C	CA400867158	SOX9	c.842A>C (p.Asp281Ala)	dbSNP
17	g.72123699A>G	CA400867159	SOX9	c.842A>G (p.Asp281Gly)	dbSNP
17	g.72123699A>T	CA400867160	SOX9	c.842A>T (p.Asp281Val)	dbSNP
17	g.72123700C>A	CA400867161	SOX9	c.843C>A (p.Asp281Glu)	dbSNP
17	g.72123700C=	CA2273926405	SOX9	c.843C= (p.Asp281=)
17	g.72123700C>G	CA400867162	SOX9	c.843C>G (p.Asp281Glu)	dbSNP gnomAD v4
17	g.72123700C>T	CA8739038	SOX9	c.843C>T (p.Asp281=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123701G>A	CA400867164	SOX9	c.844G>A (p.Val282Ile)	ClinVar dbSNP
17	g.72123701G>C	CA400867163	SOX9	c.844G>C (p.Val282Leu)	dbSNP
17	g.72123701G>T	CA400867165	SOX9	c.844G>T (p.Val282Phe)
17	g.72123702T>A	CA400867166	SOX9	c.845T>A (p.Val282Asp)	dbSNP
17	g.72123702T>C	CA400867167	SOX9	c.845T>C (p.Val282Ala)	dbSNP
17	g.72123702T>G	CA400867168	SOX9	c.845T>G (p.Val282Gly)	dbSNP
17	g.72123703C>A	CA501352074	SOX9	c.846C>A (p.Val282=)	dbSNP
17	g.72123703C>G	CA501352075	SOX9	c.846C>G (p.Val282=)	dbSNP
17	g.72123703C>T	CA501352077	SOX9	c.846C>T (p.Val282=)	dbSNP
17	g.72123707_72123715dup	CA891842301	SOX9	c.850_858dup (p.Ile286_Glu287insSerAsnIle)
17	g.72123704A>C	CA400867169	SOX9	c.847A>C (p.Ile283Leu)	dbSNP
17	g.72123704A>G	CA400867170	SOX9	c.847A>G (p.Ile283Val)
17	g.72123704A>T	CA400867171	SOX9	c.847A>T (p.Ile283Phe)	dbSNP COSMIC
17	g.72123705T>A	CA400867172	SOX9	c.848T>A (p.Ile283Asn)	dbSNP
17	g.72123705T>C	CA400867173	SOX9	c.848T>C (p.Ile283Thr)	dbSNP
17	g.72123705T>G	CA400867174	SOX9	c.848T>G (p.Ile283Ser)	dbSNP
17	g.72123706C>A	CA501352079	SOX9	c.849C>A (p.Ile283=)	dbSNP
17	g.72123706C=	CA2273926406	SOX9	c.849C= (p.Ile283=)
17	g.72123706C>G	CA400867175	SOX9	c.849C>G (p.Ile283Met)	dbSNP gnomAD v3 gnomAD v4
17	g.72123706C>T	CA501352080	SOX9	c.849C>T (p.Ile283=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123707T>A	CA400867176	SOX9	c.850T>A (p.Ser284Thr)
17	g.72123707T>C	CA400867177	SOX9	c.850T>C (p.Ser284Pro)	gnomAD v4
17	g.72123707T>G	CA400867178	SOX9	c.850T>G (p.Ser284Ala)	gnomAD v4
17	g.72123708C>A	CA400867181	SOX9	c.851C>A (p.Ser284Tyr)	dbSNP
17	g.72123708C>G	CA400867179	SOX9	c.851C>G (p.Ser284Cys)	dbSNP
17	g.72123708C>T	CA400867180	SOX9	c.851C>T (p.Ser284Phe)	dbSNP COSMIC
17	g.72123709C>A	CA501352081	SOX9	c.852C>A (p.Ser284=)
17	g.72123709C>G	CA501352082	SOX9	c.852C>G (p.Ser284=)
17	g.72123709C>T	CA501352083	SOX9	c.852C>T (p.Ser284=)
17	g.72123710A>C	CA400867182	SOX9	c.853A>C (p.Asn285His)	dbSNP
17	g.72123710A>G	CA400867184	SOX9	c.853A>G (p.Asn285Asp)	dbSNP
17	g.72123710A>T	CA400867185	SOX9	c.853A>T (p.Asn285Tyr)	dbSNP
17	g.72123711dup	CA2734004602	SOX9	c.854dup (p.Asn285LysfsTer11)	dbSNP
17	g.72123711A=	CA2273926407	SOX9	c.854A= (p.Asn285=)
17	g.72123711A>C	CA400867186	SOX9	c.854A>C (p.Asn285Thr)	dbSNP
17	g.72123711A>G	CA400867187	SOX9	c.854A>G (p.Asn285Ser)	dbSNP gnomAD v4
17	g.72123711A>T	CA400867188	SOX9	c.854A>T (p.Asn285Ile)	dbSNP
17	g.72123712C>A	CA400867189	SOX9	c.855C>A (p.Asn285Lys)	dbSNP
17	g.72123712C>G	CA400867190	SOX9	c.855C>G (p.Asn285Lys)	dbSNP
17	g.72123712C>T	CA501352084	SOX9	c.855C>T (p.Asn285=)	dbSNP
17	g.72123712_72123715dup	CA923726100	SOX9	c.855_858dup (p.Glu287HisfsTer10)	ClinVar dbSNP
17	g.72123713A>C	CA400867191	SOX9	c.856A>C (p.Ile286Leu)	dbSNP
17	g.72123713A>G	CA400867192	SOX9	c.856A>G (p.Ile286Val)	dbSNP
17	g.72123713A>T	CA400867193	SOX9	c.856A>T (p.Ile286Phe)	dbSNP
17	g.72123714T>A	CA400867196	SOX9	c.857T>A (p.Ile286Asn)	dbSNP
17	g.72123714T>C	CA400867195	SOX9	c.857T>C (p.Ile286Thr)	dbSNP
17	g.72123714T>G	CA400867194	SOX9	c.857T>G (p.Ile286Ser)
17	g.72123715C>A	CA8739039	SOX9	c.858C>A (p.Ile286=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123715C=	CA2273926408	SOX9	c.858C= (p.Ile286=)
17	g.72123715C>G	CA400867197	SOX9	c.858C>G (p.Ile286Met)	dbSNP
17	g.72123715C>T	CA8739040	SOX9	c.858C>T (p.Ile286=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.72123716G>A	CA400867198	SOX9	c.859G>A (p.Glu287Lys)	dbSNP COSMIC
17	g.72123716G>C	CA8739041	SOX9	c.859G>C (p.Glu287Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123716G=	CA2273926409	SOX9	c.859G= (p.Glu287=)
17	g.72123716G>T	CA400867199	SOX9	c.859G>T (p.Glu287Ter)	dbSNP COSMIC
17	g.72123717A>C	CA400867202	SOX9	c.860A>C (p.Glu287Ala)
17	g.72123717A>G	CA400867200	SOX9	c.860A>G (p.Glu287Gly)	dbSNP
17	g.72123717A>T	CA400867201	SOX9	c.860A>T (p.Glu287Val)	dbSNP
17	g.72123718G>A	CA501352085	SOX9	c.861G>A (p.Glu287=)	dbSNP gnomAD v4 COSMIC
17	g.72123718G>C	CA400867203	SOX9	c.861G>C (p.Glu287Asp)	dbSNP
17	g.72123718G>T	CA400867204	SOX9	c.861G>T (p.Glu287Asp)	gnomAD v4
17	g.72123719A>C	CA400867205	SOX9	c.862A>C (p.Thr288Pro)	dbSNP
17	g.72123719A>G	CA400867206	SOX9	c.862A>G (p.Thr288Ala)
17	g.72123719A>T	CA400867207	SOX9	c.862A>T (p.Thr288Ser)	dbSNP
17	g.72123720C>A	CA400867208	SOX9	c.863C>A (p.Thr288Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123720C=	CA2273926410	SOX9	c.863C= (p.Thr288=)
17	g.72123720C>G	CA400867210	SOX9	c.863C>G (p.Thr288Ser)	dbSNP
17	g.72123720C>T	CA400867209	SOX9	c.863C>T (p.Thr288Ile)	dbSNP
17	g.72123721C>A	CA501352088	SOX9	c.864C>A (p.Thr288=)	dbSNP
17	g.72123721C=	CA2273926411	SOX9	c.864C= (p.Thr288=)
17	g.72123721C>G	CA501352086	SOX9	c.864C>G (p.Thr288=)	dbSNP gnomAD v4
17	g.72123721C>T	CA501352087	SOX9	c.864C>T (p.Thr288=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123722T>A	CA400867211	SOX9	c.865T>A (p.Phe289Ile)	dbSNP
17	g.72123722T>C	CA400867212	SOX9	c.865T>C (p.Phe289Leu)	dbSNP
17	g.72123722T>G	CA400867213	SOX9	c.865T>G (p.Phe289Val)
17	g.72123723T>A	CA400867214	SOX9	c.866T>A (p.Phe289Tyr)	dbSNP
17	g.72123723T>C	CA400867215	SOX9	c.866T>C (p.Phe289Ser)	dbSNP
17	g.72123723T>G	CA400867216	SOX9	c.866T>G (p.Phe289Cys)
17	g.72123724C>A	CA8739042	SOX9	c.867C>A (p.Phe289Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123724C=	CA2273926412	SOX9	c.867C= (p.Phe289=)
17	g.72123724C>G	CA400867217	SOX9	c.867C>G (p.Phe289Leu)	dbSNP gnomAD v4
17	g.72123724C>T	CA501352089	SOX9	c.867C>T (p.Phe289=)	dbSNP gnomAD v4
17	g.72123724dup	CA501352090	SOX9	c.867dup (p.Asp290ArgfsTer6)	COSMIC
17	g.72123725G>A	CA400867218	SOX9	c.868G>A (p.Asp290Asn)	COSMIC
17	g.72123725G>C	CA400867219	SOX9	c.868G>C (p.Asp290His)	ClinVar
17	g.72123725G>T	CA400867220	SOX9	c.868G>T (p.Asp290Tyr)
17	g.72123726A>C	CA400867223	SOX9	c.869A>C (p.Asp290Ala)	dbSNP
17	g.72123726A>G	CA400867222	SOX9	c.869A>G (p.Asp290Gly)	dbSNP
17	g.72123726A>T	CA400867221	SOX9	c.869A>T (p.Asp290Val)	dbSNP
17	g.72123727T>A	CA400867224	SOX9	c.870T>A (p.Asp290Glu)	dbSNP gnomAD v2
17	g.72123727T>C	CA501352091	SOX9	c.870T>C (p.Asp290=)	dbSNP COSMIC
17	g.72123727T>G	CA400867225	SOX9	c.870T>G (p.Asp290Glu)	dbSNP
17	g.72123727T=	CA2273926413	SOX9	c.870T= (p.Asp290=)
17	g.72123728G>A	CA400867226	SOX9	c.871G>A (p.Val291Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.72123728G>C	CA400867227	SOX9	c.871G>C (p.Val291Leu)	dbSNP
17	g.72123728G=	CA2273926414	SOX9	c.871G= (p.Val291=)
17	g.72123728G>T	CA400867228	SOX9	c.871G>T (p.Val291Phe)
17	g.72123729del	CA501352092	SOX9	c.872del (p.Val291AlafsTer?)	COSMIC
17	g.72123729T>A	CA400867229	SOX9	c.872T>A (p.Val291Asp)	dbSNP
17	g.72123729T>C	CA400867230	SOX9	c.872T>C (p.Val291Ala)	dbSNP gnomAD v4
17	g.72123729T>G	CA400867231	SOX9	c.872T>G (p.Val291Gly)	dbSNP
17	g.72123729_72123732dup	CA645598925	SOX9	c.872_875dup (p.Glu293GlnfsTer4)	COSMIC
17	g.72123730C>A	CA501352093	SOX9	c.873C>A (p.Val291=)
17	g.72123730C>G	CA501352094	SOX9	c.873C>G (p.Val291=)
17	g.72123730C>T	CA501352095	SOX9	c.873C>T (p.Val291=)
17	g.72123731A>C	CA400867234	SOX9	c.874A>C (p.Asn292His)
17	g.72123731A>G	CA400867232	SOX9	c.874A>G (p.Asn292Asp)
17	g.72123731A>T	CA400867233	SOX9	c.874A>T (p.Asn292Tyr)	dbSNP
17	g.72123732A=	CA2273926415	SOX9	c.875A= (p.Asn292=)
17	g.72123732A>C	CA400867235	SOX9	c.875A>C (p.Asn292Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123732A>G	CA400867236	SOX9	c.875A>G (p.Asn292Ser)	dbSNP
17	g.72123732A>T	CA400867237	SOX9	c.875A>T (p.Asn292Ile)	dbSNP
17	g.72123733C>A	CA400867238	SOX9	c.876C>A (p.Asn292Lys)	dbSNP
17	g.72123733C=	CA2273926416	SOX9	c.876C= (p.Asn292=)
17	g.72123733C>G	CA400867239	SOX9	c.876C>G (p.Asn292Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.72123733C>T	CA501352096	SOX9	c.876C>T (p.Asn292=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123733_72123734delinsGTCA	CA2695200333	SOX9	c.876_877delinsGTCA (p.Asn292LysfsTer?)	ClinVar
17	g.72123734G>A	CA400867240	SOX9	c.877G>A (p.Glu293Lys)	dbSNP COSMIC
17	g.72123734G>C	CA400867242	SOX9	c.877G>C (p.Glu293Gln)	dbSNP
17	g.72123734G>T	CA400867241	SOX9	c.877G>T (p.Glu293Ter)
17	g.72123735A>C	CA400867243	SOX9	c.878A>C (p.Glu293Ala)
17	g.72123735A>G	CA400867244	SOX9	c.878A>G (p.Glu293Gly)	dbSNP
17	g.72123735A>T	CA400867245	SOX9	c.878A>T (p.Glu293Val)	dbSNP
17	g.72123736G>A	CA501352097	SOX9	c.879G>A (p.Glu293=)
17	g.72123736G>C	CA400867246	SOX9	c.879G>C (p.Glu293Asp)
17	g.72123736G>T	CA400867247	SOX9	c.879G>T (p.Glu293Asp)
17	g.72123737T>A	CA400867248	SOX9	c.880T>A (p.Phe294Ile)	dbSNP
17	g.72123737T>C	CA400867249	SOX9	c.880T>C (p.Phe294Leu)	dbSNP
17	g.72123737T>G	CA400867250	SOX9	c.880T>G (p.Phe294Val)	dbSNP
17	g.72123738T>A	CA400867251	SOX9	c.881T>A (p.Phe294Tyr)	dbSNP
17	g.72123738T>C	CA400867252	SOX9	c.881T>C (p.Phe294Ser)	dbSNP
17	g.72123738T>G	CA400867253	SOX9	c.881T>G (p.Phe294Cys)
17	g.72123739T>A	CA400867254	SOX9	c.882T>A (p.Phe294Leu)
17	g.72123739T>C	CA501352098	SOX9	c.882T>C (p.Phe294=)
17	g.72123739T>G	CA400867255	SOX9	c.882T>G (p.Phe294Leu)
17	g.72123740G>A	CA400867256	SOX9	c.883G>A (p.Asp295Asn)	dbSNP
17	g.72123740G>C	CA400867257	SOX9	c.883G>C (p.Asp295His)	dbSNP
17	g.72123740G>T	CA400867258	SOX9	c.883G>T (p.Asp295Tyr)	COSMIC
17	g.72123741A>C	CA400867259	SOX9	c.884A>C (p.Asp295Ala)	dbSNP
17	g.72123741A>G	CA400867260	SOX9	c.884A>G (p.Asp295Gly)	dbSNP
17	g.72123741A>T	CA400867261	SOX9	c.884A>T (p.Asp295Val)	dbSNP
17	g.72123742C>A	CA400867262	SOX9	c.885C>A (p.Asp295Glu)	dbSNP
17	g.72123742C>G	CA400867263	SOX9	c.885C>G (p.Asp295Glu)	dbSNP
17	g.72123742C>T	CA501432604	SOX9	c.885C>T (p.Asp295=)	dbSNP
17	g.72123743dup	CA2695226900	SOX9	c.886dup (p.Gln296ProfsTer?)
17	g.72123743C>A	CA400867264	SOX9	c.886C>A (p.Gln296Lys)	dbSNP
17	g.72123743C>G	CA400867265	SOX9	c.886C>G (p.Gln296Glu)	dbSNP
17	g.72123743C>T	CA400867266	SOX9	c.886C>T (p.Gln296Ter)	dbSNP
17	g.72123744A=	CA2273926417	SOX9	c.887A= (p.Gln296=)
17	g.72123744A>C	CA293783432	SOX9	c.887A>C (p.Gln296Pro)	dbSNP
17	g.72123744A>G	CA400867267	SOX9	c.887A>G (p.Gln296Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.72123744A>T	CA400867268	SOX9	c.887A>T (p.Gln296Leu)	dbSNP
17	g.72123745G>A	CA501432605	SOX9	c.888G>A (p.Gln296=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123745G>C	CA400867269	SOX9	c.888G>C (p.Gln296His)	dbSNP
17	g.72123745G=	CA2273926418	SOX9	c.888G= (p.Gln296=)
17	g.72123745G>T	CA400867270	SOX9	c.888G>T (p.Gln296His)	dbSNP
17	g.72123745_72123746dup	CA915952175	SOX9	c.888_889dup (p.Tyr297CysfsTer?)	ClinVar dbSNP
17	g.72123746T>A	CA400867271	SOX9	c.889T>A (p.Tyr297Asn)	dbSNP
17	g.72123746T>C	CA400867272	SOX9	c.889T>C (p.Tyr297His)	dbSNP
17	g.72123746T>G	CA400867273	SOX9	c.889T>G (p.Tyr297Asp)	dbSNP
17	g.72123747A=	CA2273926419	SOX9	c.890A= (p.Tyr297=)
17	g.72123747A>C	CA400867274	SOX9	c.890A>C (p.Tyr297Ser)	dbSNP
17	g.72123747A>G	CA400867275	SOX9	c.890A>G (p.Tyr297Cys)	dbSNP
17	g.72123747A>T	CA400867276	SOX9	c.890A>T (p.Tyr297Phe)	dbSNP
17	g.72123748C>A	CA400867277	SOX9	c.891C>A (p.Tyr297Ter)	dbSNP
17	g.72123748C>G	CA400867278	SOX9	c.891C>G (p.Tyr297Ter)	dbSNP
17	g.72123748C>T	CA501432606	SOX9	c.891C>T (p.Tyr297=)	dbSNP gnomAD v4
17	g.72123749C>A	CA400867279	SOX9	c.892C>A (p.Leu298Met)	dbSNP
17	g.72123749C>G	CA400867280	SOX9	c.892C>G (p.Leu298Val)	dbSNP
17	g.72123749C>T	CA501432607	SOX9	c.892C>T (p.Leu298=)	dbSNP gnomAD v4
17	g.72123750T>A	CA400867281	SOX9	c.893T>A (p.Leu298Gln)
17	g.72123750T>C	CA400867282	SOX9	c.893T>C (p.Leu298Pro)
17	g.72123750T>G	CA400867283	SOX9	c.893T>G (p.Leu298Arg)
17	g.72123751G>A	CA501432608	SOX9	c.894G>A (p.Leu298=)	dbSNP
17	g.72123751G>C	CA8739043	SOX9	c.894G>C (p.Leu298=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123751G=	CA2273926420	SOX9	c.894G= (p.Leu298=)
17	g.72123751G>T	CA501432609	SOX9	c.894G>T (p.Leu298=)	dbSNP
17	g.72123752C>A	CA400867285	SOX9	c.895C>A (p.Pro299Thr)	dbSNP gnomAD v4
17	g.72123752C>G	CA400867284	SOX9	c.895C>G (p.Pro299Ala)	dbSNP
17	g.72123752C>T	CA400867286	SOX9	c.895C>T (p.Pro299Ser)	dbSNP
17	g.72123753C>A	CA400867287	SOX9	c.896C>A (p.Pro299Gln)	dbSNP
17	g.72123753C>G	CA400867289	SOX9	c.896C>G (p.Pro299Arg)	dbSNP
17	g.72123753C>T	CA400867288	SOX9	c.896C>T (p.Pro299Leu)	dbSNP gnomAD v4
17	g.72123754G>A	CA501432610	SOX9	c.897G>A (p.Pro299=)	dbSNP COSMIC
17	g.72123754G>C	CA501432611	SOX9	c.897G>C (p.Pro299=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123754G=	CA2273926421	SOX9	c.897G= (p.Pro299=)
17	g.72123754G>T	CA501432612	SOX9	c.897G>T (p.Pro299=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123754_72123755insACCAACCCCACCAAACACA	CA2810344957	SOX9	c.897_898insACCAACCCCACCAAACACA (p.Pro300ThrfsTer?)
17	g.72123755C>A	CA400867290	SOX9	c.898C>A (p.Pro300Thr)	dbSNP
17	g.72123755C>G	CA400867292	SOX9	c.898C>G (p.Pro300Ala)	dbSNP
17	g.72123755C>T	CA400867291	SOX9	c.898C>T (p.Pro300Ser)	dbSNP gnomAD v4
17	g.72123756C>A	CA400867293	SOX9	c.899C>A (p.Pro300His)	dbSNP
17	g.72123756C>G	CA400867294	SOX9	c.899C>G (p.Pro300Arg)	dbSNP
17	g.72123756C>T	CA400867295	SOX9	c.899C>T (p.Pro300Leu)	dbSNP
17	g.72123757C>A	CA501432613	SOX9	c.900C>A (p.Pro300=)	dbSNP
17	g.72123757C>G	CA501432614	SOX9	c.900C>G (p.Pro300=)	dbSNP
17	g.72123757C>T	CA501432615	SOX9	c.900C>T (p.Pro300=)	dbSNP
17	g.72123758A>C	CA400867296	SOX9	c.901A>C (p.Asn301His)	dbSNP
17	g.72123758A>G	CA400867297	SOX9	c.901A>G (p.Asn301Asp)	dbSNP
17	g.72123758A>T	CA400867298	SOX9	c.901A>T (p.Asn301Tyr)	dbSNP
17	g.72123759A=	CA2273926422	SOX9	c.902A= (p.Asn301=)
17	g.72123759A>C	CA400867299	SOX9	c.902A>C (p.Asn301Thr)	dbSNP
17	g.72123759A>G	CA400867300	SOX9	c.902A>G (p.Asn301Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72123759A>T	CA400867301	SOX9	c.902A>T (p.Asn301Ile)	dbSNP
17	g.72123760C>A	CA400867302	SOX9	c.903C>A (p.Asn301Lys)
17	g.72123760C=	CA2273926423	SOX9	c.903C= (p.Asn301=)
17	g.72123760C>G	CA400867303	SOX9	c.903C>G (p.Asn301Lys)	dbSNP
17	g.72123760C>T	CA8739044	SOX9	c.903C>T (p.Asn301=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123761G>A	CA400867304	SOX9	c.904G>A (p.Gly302Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.72123761G>C	CA400867306	SOX9	c.904G>C (p.Gly302Arg)	dbSNP
17	g.72123761G=	CA2273926424	SOX9	c.904G= (p.Gly302=)
17	g.72123761G>T	CA400867305	SOX9	c.904G>T (p.Gly302Cys)	dbSNP COSMIC
17	g.72123761_72123762del	CA2810344958	SOX9	c.904_905del (p.Gly302ProfsTer?)
17	g.72123762G>A	CA400867307	SOX9	c.905G>A (p.Gly302Asp)
17	g.72123762G>C	CA400867308	SOX9	c.905G>C (p.Gly302Ala)
17	g.72123762G=	CA2273926425	SOX9	c.905G= (p.Gly302=)
17	g.72123762G>T	CA400867309	SOX9	c.905G>T (p.Gly302Val)	dbSNP gnomAD v2 gnomAD v4
17	g.72123763C>A	CA501432618	SOX9	c.906C>A (p.Gly302=)	dbSNP gnomAD v3 gnomAD v4
17	g.72123763C=	CA2273926426	SOX9	c.906C= (p.Gly302=)
17	g.72123763C>G	CA501432616	SOX9	c.906C>G (p.Gly302=)	dbSNP
17	g.72123763C>T	CA501432617	SOX9	c.906C>T (p.Gly302=)	dbSNP
17	g.72123764C>A	CA400867310	SOX9	c.907C>A (p.His303Asn)	dbSNP
17	g.72123764C>G	CA400867311	SOX9	c.907C>G (p.His303Asp)	dbSNP
17	g.72123764C>T	CA400867312	SOX9	c.907C>T (p.His303Tyr)	dbSNP gnomAD v4
17	g.72123765A>C	CA400867313	SOX9	c.908A>C (p.His303Pro)	dbSNP
17	g.72123765A>G	CA400867314	SOX9	c.908A>G (p.His303Arg)	dbSNP gnomAD v4
17	g.72123765A>T	CA400867315	SOX9	c.908A>T (p.His303Leu)
17	g.72123766C>A	CA400867317	SOX9	c.909C>A (p.His303Gln)
17	g.72123766C=	CA2273926427	SOX9	c.909C= (p.His303=)
17	g.72123766C>G	CA400867316	SOX9	c.909C>G (p.His303Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123766C>T	CA501432619	SOX9	c.909C>T (p.His303=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123767C>A	CA400867318	SOX9	c.910C>A (p.Pro304Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123767C=	CA2273926428	SOX9	c.910C= (p.Pro304=)
17	g.72123767C>G	CA293783453	SOX9	c.910C>G (p.Pro304Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123767C>T	CA400867319	SOX9	c.910C>T (p.Pro304Ser)	dbSNP gnomAD v4
17	g.72123768C>A	CA400867320	SOX9	c.911C>A (p.Pro304Gln)
17	g.72123768C>G	CA400867321	SOX9	c.911C>G (p.Pro304Arg)
17	g.72123768C>T	CA400867322	SOX9	c.911C>T (p.Pro304Leu)
17	g.72123768_72123769delinsCG	CA2273926429	SOX9	c.911_912delinsCG (p.Pro304=)
17	g.72123769G>A	CA501432620	SOX9	c.912G>A (p.Pro304=)	dbSNP gnomAD v2 gnomAD v4
17	g.72123769G>C	CA501432621	SOX9	c.912G>C (p.Pro304=)	dbSNP
17	g.72123769G=	CA2273926430	SOX9	c.912G= (p.Pro304=)
17	g.72123769G>T	CA501432622	SOX9	c.912G>T (p.Pro304=)	gnomAD v4
17	g.72123773dup	CA645598926	SOX9	c.916dup (p.Val306GlyfsTer?)	COSMIC
17	g.72123772_72123773dup	CA645598927	SOX9	c.915_916dup (p.Val306GlyfsTer?)	COSMIC
17	g.72123773del	CA501432623	SOX9	c.916del (p.Val306CysfsTer?)	dbSNP gnomAD v2 COSMIC
17	g.72123770G>A	CA400867323	SOX9	c.913G>A (p.Gly305Arg)	dbSNP
17	g.72123770G>C	CA400867324	SOX9	c.913G>C (p.Gly305Arg)	dbSNP
17	g.72123770G>T	CA400867325	SOX9	c.913G>T (p.Gly305Trp)	dbSNP

Number of alleles fetched