Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189252_20189268delinsCTCCCCCTTGATGAACT	CA2077139491	GJB2	c.314_330delinsAGTTCATCAAGGGGGAG (p.Lys105=)
13	g.20189256_20189271del	CA277273	GJB2	c.314_329del (p.Lys105ArgfsTer2)	ClinVar dbSNP
13	g.20189255_20189268del	CA2695217679	GJB2	c.314_327del (p.Lys105ArgfsTer5)
13	g.20189255_20189269delinsCCCCTTGATGAACTT	CA2077139507	GJB2	c.313_327delinsAAGTTCATCAAGGGG (p.Lys105=)
13	g.20189258_20189271del	CA172223	GJB2	c.313_326del (p.Lys105GlyfsTer5)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189259_20189272del	CA2695217680	GJB2	c.310_323del (p.Arg104GlyfsTer6)
13	g.20189266A>C	CA387461405	GJB2	c.316T>G (p.Phe106Val)
13	g.20189266A>G	CA387461406	GJB2	c.316T>C (p.Phe106Leu)	gnomAD v4
13	g.20189266A>T	CA387461407	GJB2	c.316T>A (p.Phe106Ile)
13	g.20189266_20189279del	CA2695217681	GJB2	c.303_316del (p.Glu101AspfsTer9)
13	g.20189267C>A	CA387461408	GJB2	c.315G>T (p.Lys105Asn)	gnomAD v4
13	g.20189267C>G	CA387461409	GJB2	c.315G>C (p.Lys105Asn)
13	g.20189267C>T	CA483153741	GJB2	c.315G>A (p.Lys105=)
13	g.20189268T>A	CA387461410	GJB2	c.314A>T (p.Lys105Met)
13	g.20189268T>C	CA387461411	GJB2	c.314A>G (p.Lys105Arg)
13	g.20189268T>G	CA387461412	GJB2	c.314A>C (p.Lys105Thr)
13	g.20189268_20189269del	CA2695217683	GJB2	c.313_314del (p.Lys105ValfsTer9)
13	g.20189269del	CA2695217682	GJB2	c.314del (p.Lys105SerfsTer7)
13	g.20189269T>A	CA387461415	GJB2	c.313A>T (p.Lys105Ter)
13	g.20189269T>C	CA387461414	GJB2	c.313A>G (p.Lys105Glu)
13	g.20189269T>G	CA387461413	GJB2	c.313A>C (p.Lys105Gln)
13	g.20189270C>A	CA6904283	GJB2	c.312G>T (p.Arg104Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189270C=	CA2077139553	GJB2	c.312G= (p.Arg104=)
13	g.20189270C>G	CA387461416	GJB2	c.312G>C (p.Arg104Ser)
13	g.20189270C>T	CA246460386	GJB2	c.312G>A (p.Arg104=)	ClinVar dbSNP gnomAD v4 COSMIC
13	g.20189271C>A	CA387461417	GJB2	c.311G>T (p.Arg104Met)
13	g.20189271C>G	CA387461418	GJB2	c.311G>C (p.Arg104Thr)	gnomAD v4
13	g.20189271C>T	CA387461419	GJB2	c.311G>A (p.Arg104Lys)	gnomAD v4
13	g.20189271_20189274delinsCTCT	CA2077139558	GJB2	c.308_311delinsAGAG (p.Lys103=)
13	g.20189272T>A	CA387461420	GJB2	c.310A>T (p.Arg104Trp)
13	g.20189272T>C	CA387461421	GJB2	c.310A>G (p.Arg104Gly)	gnomAD v4
13	g.20189272T>G	CA483153742	GJB2	c.310A>C (p.Arg104=)	ClinVar dbSNP
13	g.20189272T=	CA2077139564	GJB2	c.310A= (p.Arg104=)
13	g.20189278_20189280del	CA645587645	GJB2	c.308_310del (p.Lys103del)	ClinVar dbSNP gnomAD v4 COSMIC
13	g.20189273C>A	CA387461422	GJB2	c.309G>T (p.Lys103Asn)
13	g.20189273C=	CA2077139569	GJB2	c.309G= (p.Lys103=)
13	g.20189273C>G	CA387461423	GJB2	c.309G>C (p.Lys103Asn)
13	g.20189273C>T	CA483153743	GJB2	c.309G>A (p.Lys103=)	dbSNP gnomAD v4
13	g.20189274T>A	CA246460392	GJB2	c.308A>T (p.Lys103Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189274T>C	CA387461424	GJB2	c.308A>G (p.Lys103Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189274T>G	CA387461425	GJB2	c.308A>C (p.Lys103Thr)
13	g.20189274T=	CA2077139572	GJB2	c.308A= (p.Lys103=)
13	g.20189275T>A	CA387461428	GJB2	c.307A>T (p.Lys103Ter)
13	g.20189275T>C	CA387461427	GJB2	c.307A>G (p.Lys103Glu)
13	g.20189275T>G	CA387461426	GJB2	c.307A>C (p.Lys103Gln)
13	g.20189275T=	CA2077139579	GJB2	c.307A= (p.Lys103=)
13	g.20189275_20189276insTCTGAAGAGTGGATCTCACTTG	CA2077139585	GJB2	c.306_307insCAAGTGAGATCCACTCTTCAGA (p.Lys103GlnfsTer19)	dbSNP
13	g.20189276C>A	CA387461429	GJB2	c.306G>T (p.Lys102Asn)
13	g.20189276C=	CA2077139588	GJB2	c.306G= (p.Lys102=)
13	g.20189276C>G	CA6904285	GJB2	c.306G>C (p.Lys102Asn)	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched