Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC	CA2077140484	GJB2	c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC (p.Gly11=)
13	g.20189514_20189551del	CA261644	GJB2	c.31_68del (p.Gly11LeufsTer24)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189536_20189550delinsGTTTGTTCACACCCC	CA2077140555	GJB2	c.32_46delinsGGGGTGTGAACAAAC (p.Gly11=)
13	g.20189537_20189550del	CA608984146	GJB2	c.32_45del (p.Gly11AlafsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189538T>A	CA387462185	GJB2	c.44A>T (p.Lys15Ile)
13	g.20189538T>C	CA387462187	GJB2	c.44A>G (p.Lys15Arg)
13	g.20189538T>G	CA261649	GJB2	c.44A>C (p.Lys15Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189538T=	CA2077109877	GJB2	c.44A= (p.Lys15=)
13	g.20189538_20189551del	CA2695217727	GJB2	c.31_44del (p.Gly11ThrfsTer?)
13	g.20189539T>A	CA387462189	GJB2	c.43A>T (p.Lys15Ter)
13	g.20189539T>C	CA387462191	GJB2	c.43A>G (p.Lys15Glu)
13	g.20189539T>G	CA387462192	GJB2	c.43A>C (p.Lys15Gln)
13	g.20189540G>A	CA483154038	GJB2	c.42C>T (p.Asn14=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189540G>C	CA387462194	GJB2	c.42C>G (p.Asn14Lys)
13	g.20189540G=	CA2077109907	GJB2	c.42C= (p.Asn14=)
13	g.20189540G>T	CA387462196	GJB2	c.42C>A (p.Asn14Lys)
13	g.20189541T>A	CA387462198	GJB2	c.41A>T (p.Asn14Ile)
13	g.20189541T>C	CA387462199	GJB2	c.41A>G (p.Asn14Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189541T>G	CA387462201	GJB2	c.41A>C (p.Asn14Thr)
13	g.20189542dup	CA696363988	GJB2	c.41dup (p.Asn14LysfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189542T>A	CA387462203	GJB2	c.40A>T (p.Asn14Tyr)
13	g.20189542T>C	CA387462206	GJB2	c.40A>G (p.Asn14Asp)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189542T>G	CA387462205	GJB2	c.40A>C (p.Asn14His)
13	g.20189542T=	CA2077109926	GJB2	c.40A= (p.Asn14=)
13	g.20189543C>A	CA483154039	GJB2	c.39G>T (p.Val13=)
13	g.20189543C=	CA2077109935	GJB2	c.39G= (p.Val13=)
13	g.20189543C>G	CA483154040	GJB2	c.39G>C (p.Val13=)
13	g.20189543C>T	CA483154041	GJB2	c.39G>A (p.Val13=)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189544A=	CA2077109938	GJB2	c.38T= (p.Val13=)
13	g.20189544A>C	CA387462207	GJB2	c.38T>G (p.Val13Gly)	ClinVar dbSNP
13	g.20189544A>G	CA387462209	GJB2	c.38T>C (p.Val13Ala)
13	g.20189544A>T	CA387462211	GJB2	c.38T>A (p.Val13Glu)
13	g.20189544_20189545delinsAC	CA2077109941	GJB2	c.37_38delinsGT (p.Val13=)
13	g.20189545del	CA919221233	GJB2	c.37del (p.Val13Ter)	dbSNP
13	g.20189545C>A	CA387462213	GJB2	c.37G>T (p.Val13Leu)
13	g.20189545C=	CA2077109952	GJB2	c.37G= (p.Val13=)
13	g.20189545C>G	CA387462214	GJB2	c.37G>C (p.Val13Leu)
13	g.20189545C>T	CA6904329	GJB2	c.37G>A (p.Val13Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189546A>C	CA483154042	GJB2	c.36T>G (p.Gly12=)	ClinVar dbSNP gnomAD v4
13	g.20189546A>G	CA483154043	GJB2	c.36T>C (p.Gly12=)	gnomAD v4
13	g.20189546A>T	CA483154044	GJB2	c.36T>A (p.Gly12=)
13	g.20189546dup	CA2695217728	GJB2	c.36dup (p.Val13CysfsTer?)
13	g.20189546_20189547delinsAC	CA2077109957	GJB2	c.35_36delinsGT (p.Gly12=)
13	g.20189547C>A	CA172228	GJB2	c.35G>T (p.Gly12Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189547C=	CA2018046961	GJB2	c.35G= (p.Gly12=)
13	g.20189547C>G	CA387462219	GJB2	c.35G>C (p.Gly12Ala)
13	g.20189547C>T	CA6904330	GJB2	c.35G>A (p.Gly12Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189552dup	CA222247	GJB2	c.35dup (p.Val13CysfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189552del	CA127023	GJB2	c.35del (p.Gly12ValfsTer2)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189548C>A	CA172224	GJB2	c.34G>T (p.Gly12Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched