Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.32063148_32067182del	CA339677			ClinVar
2	g.32063720_32066025del	CA325517	SPAST	c.-112_446del c.-112_415+1779del	ClinVar
2	g.32063865G>A	CA346601236	SPAST	c.34G>A (p.Gly12Ser)	ClinVar gnomAD v4
2	g.32063865G>C	CA346601238	SPAST	c.34G>C (p.Gly12Arg)
2	g.32063865G>T	CA346601237	SPAST	c.34G>T (p.Gly12Cys)	gnomAD v4
2	g.32063866G>A	CA346601239	SPAST	c.35G>A (p.Gly12Asp)	gnomAD v4
2	g.32063866G>C	CA346601241	SPAST	c.35G>C (p.Gly12Ala)
2	g.32063866G>T	CA346601240	SPAST	c.35G>T (p.Gly12Val)	gnomAD v4
2	g.32063867C>A	CA425580702	SPAST	c.36C>A (p.Gly12=)	gnomAD v4
2	g.32063867C=	CA1242461582	SPAST	c.36C= (p.Gly12=)
2	g.32063867C>G	CA425580703	SPAST	c.36C>G (p.Gly12=)
2	g.32063867C>T	CA425580704	SPAST	c.36C>T (p.Gly12=)	dbSNP gnomAD v2 gnomAD v4
2	g.32063868T>A	CA1600460	SPAST	c.37T>A (p.Ser13Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.32063868T>C	CA1600461	SPAST	c.37T>C (p.Ser13Pro)	dbSNP ExAC gnomAD v3 gnomAD v4
2	g.32063868T>G	CA346601242	SPAST	c.37T>G (p.Ser13Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.32063868T=	CA1242461583	SPAST	c.37T= (p.Ser13=)
2	g.32063869C>A	CA346601243	SPAST	c.38C>A (p.Ser13Tyr)	gnomAD v4
2	g.32063869C>G	CA346601245	SPAST	c.38C>G (p.Ser13Cys)
2	g.32063869C>T	CA346601244	SPAST	c.38C>T (p.Ser13Phe)
2	g.32063870C>A	CA425580705	SPAST	c.39C>A (p.Ser13=)
2	g.32063870C=	CA1242461584	SPAST	c.39C= (p.Ser13=)
2	g.32063870C>G	CA425580706	SPAST	c.39C>G (p.Ser13=)
2	g.32063870C>T	CA1600462	SPAST	c.39C>T (p.Ser13=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.32063871G>A	CA346601246	SPAST	c.40G>A (p.Gly14Ser)	ClinVar gnomAD v4
2	g.32063871G>C	CA346601247	SPAST	c.40G>C (p.Gly14Arg)
2	g.32063871G>T	CA346601248	SPAST	c.40G>T (p.Gly14Cys)	gnomAD v4
2	g.32063872G>A	CA346601249	SPAST	c.41G>A (p.Gly14Asp)	gnomAD v4
2	g.32063872G>C	CA346601250	SPAST	c.41G>C (p.Gly14Ala)
2	g.32063872G>T	CA346601251	SPAST	c.41G>T (p.Gly14Val)
2	g.32063873C>A	CA425580707	SPAST	c.42C>A (p.Gly14=)	gnomAD v4
2	g.32063873C=	CA1242461585	SPAST	c.42C= (p.Gly14=)
2	g.32063873C>G	CA425580708	SPAST	c.42C>G (p.Gly14=)
2	g.32063873C>T	CA425580709	SPAST	c.42C>T (p.Gly14=)	dbSNP gnomAD v2 gnomAD v4
2	g.32063874G>A	CA346601252	SPAST	c.43G>A (p.Gly15Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.32063874G>C	CA346601253	SPAST	c.43G>C (p.Gly15Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.32063874G=	CA1242461586	SPAST	c.43G= (p.Gly15=)
2	g.32063874G>T	CA346601254	SPAST	c.43G>T (p.Gly15Cys)	gnomAD v4
2	g.32063875G>A	CA346601257	SPAST	c.44G>A (p.Gly15Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.32063875G>C	CA346601256	SPAST	c.44G>C (p.Gly15Ala)
2	g.32063875G=	CA1242461587	SPAST	c.44G= (p.Gly15=)
2	g.32063875G>T	CA346601255	SPAST	c.44G>T (p.Gly15Val)	gnomAD v4
2	g.32063876C>A	CA425626852	SPAST	c.45C>A (p.Gly15=)	gnomAD v4
2	g.32063876C=	CA1242461588	SPAST	c.45C= (p.Gly15=)
2	g.32063876C>G	CA425626853	SPAST	c.45C>G (p.Gly15=)
2	g.32063876C>T	CA425626854	SPAST	c.45C>T (p.Gly15=)	dbSNP gnomAD v2 gnomAD v4
2	g.32063877G>A	CA1600464	SPAST	c.46G>A (p.Ala16Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.32063877G>C	CA1600463	SPAST	c.46G>C (p.Ala16Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.32063877G=	CA1242461589	SPAST	c.46G= (p.Ala16=)
2	g.32063877G>T	CA346601258	SPAST	c.46G>T (p.Ala16Ser)	gnomAD v4
2	g.32063878C>A	CA346601259	SPAST	c.47C>A (p.Ala16Asp)	gnomAD v4

Number of alleles fetched