Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.18122077G>A	CA362827664	NHLRC1	c.530C>T (p.Pro177Leu)
6	g.18122077G>C	CA362827665	NHLRC1	c.530C>G (p.Pro177Arg)
6	g.18122077G>T	CA362827666	NHLRC1	c.530C>A (p.Pro177His)
6	g.18122078G>A	CA362827668	NHLRC1	c.529C>T (p.Pro177Ser)
6	g.18122078G>C	CA362827670	NHLRC1	c.529C>G (p.Pro177Ala)
6	g.18122078G=	CA1613536389	NHLRC1	c.529C= (p.Pro177=)
6	g.18122078G>T	CA362827667	NHLRC1	c.529C>A (p.Pro177Thr)	dbSNP
6	g.18122079G>A	CA448958131	NHLRC1	c.528C>T (p.Tyr176=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.18122079G>C	CA362827671	NHLRC1	c.528C>G (p.Tyr176Ter)	ClinVar dbSNP gnomAD v4
6	g.18122079G=	CA1613536390	NHLRC1	c.528C= (p.Tyr176=)
6	g.18122079G>T	CA362827672	NHLRC1	c.528C>A (p.Tyr176Ter)	gnomAD v4
6	g.18122080T>A	CA362827674	NHLRC1	c.527A>T (p.Tyr176Phe)
6	g.18122080T>C	CA362827680	NHLRC1	c.527A>G (p.Tyr176Cys)
6	g.18122080T>G	CA362827677	NHLRC1	c.527A>C (p.Tyr176Ser)
6	g.18122081A>C	CA362827681	NHLRC1	c.526T>G (p.Tyr176Asp)
6	g.18122081A>G	CA362827682	NHLRC1	c.526T>C (p.Tyr176His)
6	g.18122081A>T	CA362827684	NHLRC1	c.526T>A (p.Tyr176Asn)
6	g.18122082C>A	CA362827686	NHLRC1	c.525G>T (p.Arg175Ser)
6	g.18122082C=	CA1613536391	NHLRC1	c.525G= (p.Arg175=)
6	g.18122082C>G	CA362827687	NHLRC1	c.525G>C (p.Arg175Ser)
6	g.18122082C>T	CA448958136	NHLRC1	c.525G>A (p.Arg175=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.18122083C>A	CA362827690	NHLRC1	c.524G>T (p.Arg175Met)
6	g.18122083C>G	CA362827691	NHLRC1	c.524G>C (p.Arg175Thr)
6	g.18122083C>T	CA362827692	NHLRC1	c.524G>A (p.Arg175Lys)	gnomAD v4
6	g.18122084T>A	CA362827693	NHLRC1	c.523A>T (p.Arg175Trp)
6	g.18122084T>C	CA362827694	NHLRC1	c.523A>G (p.Arg175Gly)
6	g.18122084T>G	CA448958141	NHLRC1	c.523A>C (p.Arg175=)
6	g.18122085A>C	CA362827695	NHLRC1	c.522T>G (p.Ile174Met)
6	g.18122085A>G	CA448958143	NHLRC1	c.522T>C (p.Ile174=)
6	g.18122085A>T	CA448958144	NHLRC1	c.522T>A (p.Ile174=)
6	g.18122086A>C	CA362827700	NHLRC1	c.521T>G (p.Ile174Ser)
6	g.18122086A>G	CA362827697	NHLRC1	c.521T>C (p.Ile174Thr)
6	g.18122086A>T	CA362827698	NHLRC1	c.521T>A (p.Ile174Asn)
6	g.18122087T>A	CA362827702	NHLRC1	c.520A>T (p.Ile174Phe)
6	g.18122087T>C	CA362827705	NHLRC1	c.520A>G (p.Ile174Val)	gnomAD v4
6	g.18122087T>G	CA3649980	NHLRC1	c.520A>C (p.Ile174Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.18122087T=	CA1613536392	NHLRC1	c.520A= (p.Ile174=)
6	g.18122087_18122088delinsTG	CA1613536393	NHLRC1	c.519_520delinsCA (p.Asp173=)
6	g.18122088del	CA1613536394	NHLRC1	c.519del (p.Asp173GlufsTer?)	ClinVar dbSNP gnomAD v4
6	g.18122088G>A	CA448958149	NHLRC1	c.519C>T (p.Asp173=)	ClinVar gnomAD v4
6	g.18122088G>C	CA362827709	NHLRC1	c.519C>G (p.Asp173Glu)
6	g.18122088G>T	CA362827711	NHLRC1	c.519C>A (p.Asp173Glu)
6	g.18122089T>A	CA362827715	NHLRC1	c.518A>T (p.Asp173Val)
6	g.18122089T>C	CA362827716	NHLRC1	c.518A>G (p.Asp173Gly)	COSMIC
6	g.18122089T>G	CA362827718	NHLRC1	c.518A>C (p.Asp173Ala)
6	g.18122090C>A	CA362827721	NHLRC1	c.517G>T (p.Asp173Tyr)
6	g.18122090C=	CA1613536395	NHLRC1	c.517G= (p.Asp173=)
6	g.18122090C>G	CA362827723	NHLRC1	c.517G>C (p.Asp173His)
6	g.18122090C>T	CA362827726	NHLRC1	c.517G>A (p.Asp173Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.18122091T>A	CA362827730	NHLRC1	c.516A>T (p.Gln172His)

Number of alleles fetched