Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.72123904_72123987del	CA913189140	SOX9	c.1047_1130del (p.Pro350_Pro377del)	gnomAD v4
17	g.72123906_72123989del	CA2639603158	SOX9	c.1049_1132del (p.Pro350_Pro377del)	gnomAD v4
17	g.72123913_72123940delinsCCCGCCGGCCCCGCAGGCGCCCCCGCAG	CA2273926522	SOX9	c.1056_1083delinsCCCGCCGGCCCCGCAGGCGCCCCCGCAG (p.Ala352=)
17	g.72123918_72123944del	CA627589954	SOX9	c.1061_1087del (p.Pro354_Pro362del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123916_72123962del	CA2695226902	SOX9	c.1059_1105del (p.Pro354AlafsTer?)
17	g.72123921_72123939delinsCCCCGCAGGCGCCCCCGCA	CA2273926529	SOX9	c.1064_1082delinsCCCCGCAGGCGCCCCCGCA (p.Ala355=)
17	g.72123929_72123940dup	CA627589959	SOX9	c.1072_1083dup (p.Gln361_Pro362insAlaProProGln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123929_72123940del	CA2580095098	SOX9	c.1072_1083del (p.Ala358_Gln361del)	ClinVar
17	g.72123929_72123982del	CA2810344963	SOX9	c.1072_1125del (p.Ala358_Gln375del)
17	g.72123922_72123939del	CA8739083	SOX9	c.1065_1082del (p.Pro356_Gln361del)	ClinVar dbSNP ExAC
17	g.72123932_72123949del	CA2639603162	SOX9	c.1075_1092del (p.Pro359_Ala364del)	gnomAD v4
17	g.72123927_72123969del	CA2695226903	SOX9	c.1070_1112del (p.Gln357ArgfsTer12)
17	g.72123927_72123948delinsAGGCGCCCCCGCAGCCGCAGGC	CA2273926533	SOX9	c.1070_1091delinsAGGCGCCCCCGCAGCCGCAGGC (p.Gln357=)
17	g.72123937_72123957dup	CA627589963	SOX9	c.1080_1100dup (p.Pro367_Gln368insGlnProGlnAlaAlaProPro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123937_72123957del	CA8739085	SOX9	c.1080_1100del (p.Gln361_Pro367del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123931_72123972del	CA2639603163	SOX9	c.1074_1115del (p.Pro359_Ala372del)	gnomAD v4
17	g.72123929_72123941delinsGCGCCCCCGCAGC	CA2273926535	SOX9	c.1072_1084delinsGCGCCCCCGCAGC (p.Ala358=)
17	g.72123933_72123938del	CA2273926538	SOX9	c.1076_1081del (p.Pro359_Pro360del)	dbSNP
17	g.72123933_72123944del	CA627589964	SOX9	c.1076_1087del (p.Pro359_Pro362del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123934_72123952delinsCCCGCAGCCGCAGGCGGCG	CA2273926542	SOX9	c.1077_1095delinsCCCGCAGCCGCAGGCGGCG (p.Pro359=)
17	g.72123937_72123954del	CA8739088	SOX9	c.1080_1097del (p.Gln361_Pro366del)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.72123936_72123960delinsCGCAGCCGCAGGCGGCGCCCCCACA	CA2273926544	SOX9	c.1079_1103delinsCGCAGCCGCAGGCGGCGCCCCCACA (p.Pro360=)
17	g.72123937G>A	CA501432727	SOX9	c.1080G>A (p.Pro360=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.72123937G>C	CA501432728	SOX9	c.1080G>C (p.Pro360=)	dbSNP gnomAD v4
17	g.72123937G=	CA2273926546	SOX9	c.1080G= (p.Pro360=)
17	g.72123937G>T	CA501432729	SOX9	c.1080G>T (p.Pro360=)	dbSNP gnomAD v4
17	g.72123944_72123967dup	CA2639603165	SOX9	c.1087_1110dup (p.Pro370_Ala371insGlnAlaAlaProProGlnGlnPro)	gnomAD v4
17	g.72123944_72123967del	CA774801397	SOX9	c.1087_1110del (p.Gln363_Pro370del)	dbSNP gnomAD v3 gnomAD v4
17	g.72123938C>A	CA400867672	SOX9	c.1081C>A (p.Gln361Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.72123938C=	CA2273926547	SOX9	c.1081C= (p.Gln361=)
17	g.72123938C>G	CA400867673	SOX9	c.1081C>G (p.Gln361Glu)
17	g.72123938C>T	CA400867674	SOX9	c.1081C>T (p.Gln361Ter)	ClinVar dbSNP gnomAD v4
17	g.72123942_72123962del	CA2639603167	SOX9	c.1085_1105del (p.Pro362_Gln368del)	gnomAD v4
17	g.72123939A>C	CA400867677	SOX9	c.1082A>C (p.Gln361Pro)	dbSNP
17	g.72123939A>G	CA400867678	SOX9	c.1082A>G (p.Gln361Arg)	dbSNP gnomAD v4
17	g.72123939A>T	CA400867676	SOX9	c.1082A>T (p.Gln361Leu)
17	g.72123940G>A	CA501432730	SOX9	c.1083G>A (p.Gln361=)	dbSNP gnomAD v4
17	g.72123940G>C	CA400867680	SOX9	c.1083G>C (p.Gln361His)	dbSNP
17	g.72123940G>T	CA400867679	SOX9	c.1083G>T (p.Gln361His)	gnomAD v4
17	g.72123940_72123941insGCC	CA2576374517	SOX9	c.1083_1084insGCC (p.Gln361_Pro362insAla)
17	g.72123941C>A	CA400867681	SOX9	c.1084C>A (p.Pro362Thr)	gnomAD v4
17	g.72123941C=	CA2273926548	SOX9	c.1084C= (p.Pro362=)
17	g.72123941C>G	CA400867682	SOX9	c.1084C>G (p.Pro362Ala)	gnomAD v4
17	g.72123941C>T	CA400867683	SOX9	c.1084C>T (p.Pro362Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.72123941_72123947delinsCCGCAGG	CA2273926549	SOX9	c.1084_1090delinsCCGCAGG (p.Pro362=)
17	g.72123942C>A	CA400867684	SOX9	c.1085C>A (p.Pro362Gln)	dbSNP gnomAD v4
17	g.72123942C=	CA2273926550	SOX9	c.1085C= (p.Pro362=)
17	g.72123942C>G	CA400867685	SOX9	c.1085C>G (p.Pro362Arg)	gnomAD v4
17	g.72123942C>T	CA400867686	SOX9	c.1085C>T (p.Pro362Leu)	dbSNP gnomAD v4
17	g.72123943_72123944del	CA2810344966	SOX9	c.1086_1087del (p.Gln363GlyfsTer?)

Number of alleles fetched