Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.51026311_51028334del	CA1139657030	NRXN1	c.-59_772+1193del c.-59_871+62del	ClinVar
2	g.51028155C>A	CA346824671	NRXN1	c.119G>T (p.Trp40Leu)	gnomAD v4
2	g.51028155C=	CA1249878873	NRXN1	c.119G= (p.Trp40=)
2	g.51028155C>G	CA346824672	NRXN1	c.119G>C (p.Trp40Ser)
2	g.51028155C>T	CA16617739	NRXN1	c.119G>A (p.Trp40Ter)	ClinVar dbSNP gnomAD v4
2	g.51028156A>C	CA346824673	NRXN1	c.118T>G (p.Trp40Gly)
2	g.51028156A>G	CA346824674	NRXN1	c.118T>C (p.Trp40Arg)	gnomAD v4
2	g.51028156A>T	CA346824675	NRXN1	c.118T>A (p.Trp40Arg)
2	g.51028157T>A	CA346824676	NRXN1	c.117A>T (p.Gln39His)	gnomAD v4
2	g.51028157T>C	CA426129210	NRXN1	c.117A>G (p.Gln39=)	gnomAD v4
2	g.51028157T>G	CA346824677	NRXN1	c.117A>C (p.Gln39His)
2	g.51028158T>A	CA346824679	NRXN1	c.116A>T (p.Gln39Leu)	gnomAD v4
2	g.51028158T>C	CA346824680	NRXN1	c.116A>G (p.Gln39Arg)	gnomAD v4
2	g.51028158T>G	CA346824678	NRXN1	c.116A>C (p.Gln39Pro)
2	g.51028159G>A	CA346824681	NRXN1	c.115C>T (p.Gln39Ter)	gnomAD v4
2	g.51028159G>C	CA346824682	NRXN1	c.115C>G (p.Gln39Glu)
2	g.51028159G>T	CA346824683	NRXN1	c.115C>A (p.Gln39Lys)	gnomAD v4
2	g.51028160G>A	CA426129219	NRXN1	c.114C>T (p.Gly38=)	gnomAD v4
2	g.51028160G>C	CA426129218	NRXN1	c.114C>G (p.Gly38=)	gnomAD v4
2	g.51028160G>T	CA426129217	NRXN1	c.114C>A (p.Gly38=)	gnomAD v4
2	g.51028161C>A	CA346824684	NRXN1	c.113G>T (p.Gly38Val)	gnomAD v4
2	g.51028161C=	CA1249878874	NRXN1	c.113G= (p.Gly38=)
2	g.51028161C>G	CA346824685	NRXN1	c.113G>C (p.Gly38Ala)	gnomAD v4
2	g.51028161C>T	CA346824686	NRXN1	c.113G>A (p.Gly38Asp)	ClinVar dbSNP gnomAD v4
2	g.51028161_51028162delinsTT	CA645534310	NRXN1	c.112_113delinsAA (p.Gly38Asn)	COSMIC COSMIC COSMIC COSMIC
2	g.51028163del	CA2659013339	NRXN1	c.113del (p.Gly38AlafsTer17)	gnomAD v4
2	g.51028162C>A	CA346824688	NRXN1	c.112G>T (p.Gly38Cys)	gnomAD v4
2	g.51028162C=	CA1249878875	NRXN1	c.112G= (p.Gly38=)
2	g.51028162C>G	CA346824687	NRXN1	c.112G>C (p.Gly38Arg)
2	g.51028162C>T	CA1655558	NRXN1	c.112G>A (p.Gly38Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.51028163C>A	CA346824689	NRXN1	c.111G>T (p.Glu37Asp)	gnomAD v4
2	g.51028163C=	CA1249878876	NRXN1	c.111G= (p.Glu37=)
2	g.51028163C>G	CA346824690	NRXN1	c.111G>C (p.Glu37Asp)
2	g.51028163C>T	CA426129225	NRXN1	c.111G>A (p.Glu37=)	dbSNP gnomAD v2 gnomAD v4
2	g.51028164T>A	CA346824691	NRXN1	c.110A>T (p.Glu37Val)	gnomAD v4
2	g.51028164T>C	CA346824692	NRXN1	c.110A>G (p.Glu37Gly)	gnomAD v4
2	g.51028164T>G	CA346824694	NRXN1	c.110A>C (p.Glu37Ala)
2	g.51028165C>A	CA346824695	NRXN1	c.109G>T (p.Glu37Ter)	gnomAD v4
2	g.51028165C=	CA1249878877	NRXN1	c.109G= (p.Glu37=)
2	g.51028165C>G	CA48054941	NRXN1	c.109G>C (p.Glu37Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.51028165C>T	CA346824696	NRXN1	c.109G>A (p.Glu37Lys)	gnomAD v4
2	g.51028166G>A	CA1655559	NRXN1	c.108C>T (p.Ala36=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.51028166G>C	CA426129226	NRXN1	c.108C>G (p.Ala36=)	ClinVar dbSNP gnomAD v4
2	g.51028166G=	CA1249878878	NRXN1	c.108C= (p.Ala36=)
2	g.51028166G>T	CA426129227	NRXN1	c.108C>A (p.Ala36=)	gnomAD v4
2	g.51028167G>A	CA346824697	NRXN1	c.107C>T (p.Ala36Val)
2	g.51028167G>C	CA346824698	NRXN1	c.107C>G (p.Ala36Gly)
2	g.51028167G>T	CA346824699	NRXN1	c.107C>A (p.Ala36Asp)	gnomAD v4
2	g.51028168C>A	CA346824700	NRXN1	c.106G>T (p.Ala36Ser)	gnomAD v4
2	g.51028168C>G	CA346824701	NRXN1	c.106G>C (p.Ala36Pro)	gnomAD v4

Number of alleles fetched