Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.121447159G>A	CA452133751	GJA1	c.312G>A (p.Glu104=)
6	g.121447159G>C	CA365558655	GJA1	c.312G>C (p.Glu104Asp)
6	g.121447159G>T	CA365558656	GJA1	c.312G>T (p.Glu104Asp)	COSMIC
6	g.121447159_121447160delinsGA	CA1659501557	GJA1	c.312_313delinsGA (p.Glu104=)
6	g.121447160A>C	CA365558665	GJA1	c.313A>C (p.Lys105Gln)
6	g.121447160A>G	CA365558658	GJA1	c.313A>G (p.Lys105Glu)
6	g.121447160A>T	CA365558660	GJA1	c.313A>T (p.Lys105Ter)
6	g.121447162del	CA1659501558	GJA1	c.315del (p.Lys105AsnfsTer2)	dbSNP
6	g.121447161A>C	CA365558668	GJA1	c.314A>C (p.Lys105Thr)
6	g.121447161A>G	CA365558669	GJA1	c.314A>G (p.Lys105Arg)
6	g.121447161A>T	CA365558671	GJA1	c.314A>T (p.Lys105Ile)
6	g.121447162A>C	CA365558673	GJA1	c.315A>C (p.Lys105Asn)
6	g.121447162A>G	CA452133753	GJA1	c.315A>G (p.Lys105=)
6	g.121447162A>T	CA365558674	GJA1	c.315A>T (p.Lys105Asn)
6	g.121447163C>A	CA365558676	GJA1	c.316C>A (p.Leu106Met)
6	g.121447163C>G	CA365558678	GJA1	c.316C>G (p.Leu106Val)
6	g.121447163C>T	CA452133756	GJA1	c.316C>T (p.Leu106=)
6	g.121447164T>A	CA365558679	GJA1	c.317T>A (p.Leu106Gln)
6	g.121447164T>C	CA365558681	GJA1	c.317T>C (p.Leu106Pro)	ClinVar dbSNP
6	g.121447164T>G	CA365558682	GJA1	c.317T>G (p.Leu106Arg)
6	g.121447165G>A	CA452133759	GJA1	c.318G>A (p.Leu106=)	COSMIC
6	g.121447165G>C	CA452133761	GJA1	c.318G>C (p.Leu106=)
6	g.121447165G>T	CA452133762	GJA1	c.318G>T (p.Leu106=)
6	g.121447166A=	CA1659501559	GJA1	c.319A= (p.Asn107=)
6	g.121447166A>C	CA3981675	GJA1	c.319A>C (p.Asn107His)	dbSNP ExAC gnomAD v2
6	g.121447166A>G	CA365558685	GJA1	c.319A>G (p.Asn107Asp)
6	g.121447166A>T	CA365558687	GJA1	c.319A>T (p.Asn107Tyr)
6	g.121447167A>C	CA365558692	GJA1	c.320A>C (p.Asn107Thr)
6	g.121447167A>G	CA365558689	GJA1	c.320A>G (p.Asn107Ser)
6	g.121447167A>T	CA365558691	GJA1	c.320A>T (p.Asn107Ile)
6	g.121447168C>A	CA365558695	GJA1	c.321C>A (p.Asn107Lys)
6	g.121447168C>G	CA365558697	GJA1	c.321C>G (p.Asn107Lys)
6	g.121447168C>T	CA452133763	GJA1	c.321C>T (p.Asn107=)
6	g.121447169A>C	CA365558699	GJA1	c.322A>C (p.Lys108Gln)
6	g.121447169A>G	CA365558701	GJA1	c.322A>G (p.Lys108Glu)
6	g.121447169A>T	CA365558702	GJA1	c.322A>T (p.Lys108Ter)
6	g.121447170A>C	CA365558705	GJA1	c.323A>C (p.Lys108Thr)
6	g.121447170A>G	CA365558707	GJA1	c.323A>G (p.Lys108Arg)
6	g.121447170A>T	CA365558708	GJA1	c.323A>T (p.Lys108Met)
6	g.121447171_121447172del	CA2552064128	GJA1	c.324_325del (p.Lys109ArgfsTer10)
6	g.121447171G>A	CA452133768	GJA1	c.324G>A (p.Lys108=)
6	g.121447171G>C	CA365558710	GJA1	c.324G>C (p.Lys108Asn)
6	g.121447171G>T	CA365558711	GJA1	c.324G>T (p.Lys108Asn)
6	g.121447172A>C	CA365558712	GJA1	c.325A>C (p.Lys109Gln)
6	g.121447172A>G	CA365558714	GJA1	c.325A>G (p.Lys109Glu)
6	g.121447172A>T	CA365558716	GJA1	c.325A>T (p.Lys109Ter)
6	g.121447173A>C	CA365558721	GJA1	c.326A>C (p.Lys109Thr)
6	g.121447173A>G	CA365558718	GJA1	c.326A>G (p.Lys109Arg)	gnomAD v4
6	g.121447173A>T	CA365558719	GJA1	c.326A>T (p.Lys109Ile)
6	g.121447174A=	CA1659501560	GJA1	c.327A= (p.Lys109=)

Number of alleles fetched