Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.136822781_136822815del	CA2680487943	PEX7	c.116_130+20del	gnomAD v4
6	g.136822785C>A	CA365855441	PEX7	c.120C>A (p.Tyr40Ter)	dbSNP gnomAD v2 gnomAD v4
6	g.136822785C>G	CA119075	PEX7	c.120C>G (p.Tyr40Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822785C>T	CA148640688	PEX7	c.120C>T (p.Tyr40=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822789_136822805dup	CA2680487946	PEX7	c.124_130+10dup	gnomAD v4
6	g.136822786G>A	CA365855444	PEX7	c.121G>A (p.Gly41Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.136822786G>C	CA365855448	PEX7	c.121G>C (p.Gly41Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822786G>T	CA365855446	PEX7	c.121G>T (p.Gly41Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822787G>A	CA148640689	PEX7	c.122G>A (p.Gly41Asp)	ClinVar dbSNP gnomAD v4
6	g.136822787G>C	CA365855451	PEX7	c.122G>C (p.Gly41Ala)	gnomAD v4
6	g.136822787G>T	CA148640690	PEX7	c.122G>T (p.Gly41Val)	ClinVar dbSNP gnomAD v4
6	g.136822787_136822788del	CA2580075083	PEX7	c.122_123del (p.Gly41AspfsTer14)	ClinVar
6	g.136822788C>A	CA452374737	PEX7	c.123C>A (p.Gly41=)	ClinVar gnomAD v4
6	g.136822788C>G	CA452374738	PEX7	c.123C>G (p.Gly41=)
6	g.136822788C>T	CA4017485	PEX7	c.123C>T (p.Gly41=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.136822789A>C	CA365855454	PEX7	c.124A>C (p.Ile42Leu)
6	g.136822789A>G	CA365855456	PEX7	c.124A>G (p.Ile42Val)	gnomAD v4
6	g.136822789A>T	CA365855457	PEX7	c.124A>T (p.Ile42Phe)
6	g.136822790T>A	CA365855460	PEX7	c.125T>A (p.Ile42Asn)
6	g.136822790T>C	CA365855461	PEX7	c.125T>C (p.Ile42Thr)	gnomAD v4
6	g.136822790T>G	CA365855463	PEX7	c.125T>G (p.Ile42Ser)
6	g.136822791C>A	CA452374739	PEX7	c.126C>A (p.Ile42=)	gnomAD v4
6	g.136822791C>G	CA365855464	PEX7	c.126C>G (p.Ile42Met)	dbSNP gnomAD v3 gnomAD v4
6	g.136822791C>T	CA452374740	PEX7	c.126C>T (p.Ile42=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822792G>A	CA365855466	PEX7	c.127G>A (p.Ala43Thr)	dbSNP gnomAD v4
6	g.136822792G>C	CA365855468	PEX7	c.127G>C (p.Ala43Pro)
6	g.136822792G>T	CA365855470	PEX7	c.127G>T (p.Ala43Ser)	gnomAD v4
6	g.136822793C>A	CA365855475	PEX7	c.128C>A (p.Ala43Glu)	dbSNP gnomAD v4
6	g.136822793C>G	CA365855473	PEX7	c.128C>G (p.Ala43Gly)
6	g.136822793C>T	CA4017486	PEX7	c.128C>T (p.Ala43Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822794G>A	CA452374741	PEX7	c.129G>A (p.Ala43=)	gnomAD v4
6	g.136822794G>C	CA452374742	PEX7	c.129G>C (p.Ala43=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822794G>T	CA452374743	PEX7	c.129G>T (p.Ala43=)	gnomAD v4
6	g.136822796del	CA2578751592	PEX7	c.130+1del	gnomAD v4
6	g.136822795G>A	CA365855476	PEX7	c.130G>A (p.Gly44Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.136822795G>C	CA365855478	PEX7	c.130G>C (p.Gly44Arg)	gnomAD v4
6	g.136822795G>T	CA365855480	PEX7	c.130G>T (p.Gly44Cys)	gnomAD v4
6	g.136822796G>A	CA148640691	PEX7	c.130+1G>A (n.130+1G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822796G>C	CA16041011	PEX7	c.130+1G>C (n.130+1G>C)	ClinVar dbSNP
6	g.136822796G>T	CA365855483	PEX7	c.130+1G>T (n.130+1G>T)	dbSNP gnomAD v4
6	g.136822797T>A	CA365855486	PEX7	c.130+2T>A (n.130+2T>A)
6	g.136822797T>C	CA365855487	PEX7	c.130+2T>C (n.130+2T>C)	gnomAD v4
6	g.136822797T>G	CA365855489	PEX7	c.130+2T>G (n.130+2T>G)	ClinVar dbSNP
6	g.136822798G>A	CA2578751594	PEX7	c.130+3G>A (n.130+3G>A)	ClinVar gnomAD v4
6	g.136822798G>C	CA2578751593	PEX7	c.130+3G>C (n.130+3G>C)
6	g.136822798G>T	CA2505465973	PEX7	c.130+3G>T (n.130+3G>T)	gnomAD v4
6	g.136822799A>G	CA2680487947	PEX7	c.130+4A>G (n.130+4A>G)	gnomAD v4
6	g.136822800G>A	CA2580075084	PEX7	c.130+5G>A (n.130+5G>A)	ClinVar dbSNP gnomAD v4
6	g.136822800G>T	CA2680487948	PEX7	c.130+5G>T (n.130+5G>T)	gnomAD v4
6	g.136822804_136822806dup	CA2680487950	PEX7	c.130+9_130+11dup (n.130+9_130+11dup)	gnomAD v4

Number of alleles fetched