Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.136822668_136822685del	CA570743749	PEX7	c.3_20del (p.Met1_Gly7delinsIle)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822685del	CA2578751590	PEX7	c.20del (p.Gly7GlufsTer?)
6	g.136822687_136822696del	CA2697553780	PEX7	c.22_31del (p.Ala8CysfsTer?)	ClinVar
6	g.136822685G>A	CA365855086	PEX7	c.20G>A (p.Gly7Glu)	ClinVar dbSNP gnomAD v4
6	g.136822685G>C	CA4017479	PEX7	c.20G>C (p.Gly7Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.136822685G>T	CA365855085	PEX7	c.20G>T (p.Gly7Val)	dbSNP gnomAD v4
6	g.136822686A>C	CA452374658	PEX7	c.21A>C (p.Gly7=)
6	g.136822686A>G	CA452374659	PEX7	c.21A>G (p.Gly7=)	ClinVar dbSNP gnomAD v4
6	g.136822686A>T	CA452374660	PEX7	c.21A>T (p.Gly7=)
6	g.136822687G>A	CA365855089	PEX7	c.22G>A (p.Ala8Thr)	gnomAD v4
6	g.136822687G>C	CA365855091	PEX7	c.22G>C (p.Ala8Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822687G>T	CA365855092	PEX7	c.22G>T (p.Ala8Ser)	gnomAD v4
6	g.136822688C>A	CA365855095	PEX7	c.23C>A (p.Ala8Glu)	ClinVar dbSNP gnomAD v4
6	g.136822688C>G	CA365855097	PEX7	c.23C>G (p.Ala8Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.136822688C>T	CA365855098	PEX7	c.23C>T (p.Ala8Val)	gnomAD v4 COSMIC COSMIC
6	g.136822689G>A	CA148640671	PEX7	c.24G>A (p.Ala8=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822689G>C	CA148640672	PEX7	c.24G>C (p.Ala8=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.136822689G>T	CA452374661	PEX7	c.24G>T (p.Ala8=)	ClinVar dbSNP gnomAD v4
6	g.136822690G>A	CA365855101	PEX7	c.25G>A (p.Ala9Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822690G>C	CA365855104	PEX7	c.25G>C (p.Ala9Pro)	ClinVar
6	g.136822690G>T	CA365855102	PEX7	c.25G>T (p.Ala9Ser)
6	g.136822691C>A	CA365855107	PEX7	c.26C>A (p.Ala9Glu)	ClinVar dbSNP gnomAD v4
6	g.136822691C>G	CA365855108	PEX7	c.26C>G (p.Ala9Gly)	gnomAD v4
6	g.136822691C>T	CA365855110	PEX7	c.26C>T (p.Ala9Val)	ClinVar dbSNP gnomAD v4
6	g.136822692G>A	CA452374662	PEX7	c.27G>A (p.Ala9=)	ClinVar dbSNP gnomAD v4
6	g.136822692G>C	CA452374663	PEX7	c.27G>C (p.Ala9=)	ClinVar gnomAD v4
6	g.136822692G>T	CA452374664	PEX7	c.27G>T (p.Ala9=)	gnomAD v4
6	g.136822697_136822705dup	CA4017480	PEX7	c.32_40dup (p.Arg13_Thr14insMetLeuArg)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.136822693C>A	CA452374665	PEX7	c.28C>A (p.Arg10=)	gnomAD v4
6	g.136822693C>G	CA365855113	PEX7	c.28C>G (p.Arg10Gly)
6	g.136822693C>T	CA365855114	PEX7	c.28C>T (p.Arg10Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822696_136822721dup	CA2697553781	PEX7	c.31_56dup (p.Tyr20CysfsTer?)	ClinVar
6	g.136822696_136822721del	CA16041008	PEX7	c.31_56del (p.Met11LeufsTer?)	ClinVar dbSNP
6	g.136822694G>A	CA365855117	PEX7	c.29G>A (p.Arg10Gln)	gnomAD v4
6	g.136822694G>C	CA365855118	PEX7	c.29G>C (p.Arg10Pro)
6	g.136822694G>T	CA365855120	PEX7	c.29G>T (p.Arg10Leu)	gnomAD v4
6	g.136822695G>A	CA452374666	PEX7	c.30G>A (p.Arg10=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822695G>C	CA452374667	PEX7	c.30G>C (p.Arg10=)
6	g.136822695G>T	CA452374668	PEX7	c.30G>T (p.Arg10=)	dbSNP gnomAD v4
6	g.136822696A>C	CA148640673	PEX7	c.31A>C (p.Met11Leu)	dbSNP
6	g.136822696A>G	CA365855123	PEX7	c.31A>G (p.Met11Val)	gnomAD v4
6	g.136822696A>T	CA365855124	PEX7	c.31A>T (p.Met11Leu)
6	g.136822697T>A	CA365855126	PEX7	c.32T>A (p.Met11Lys)
6	g.136822697T>C	CA365855128	PEX7	c.32T>C (p.Met11Thr)	dbSNP
6	g.136822697T>G	CA365855130	PEX7	c.32T>G (p.Met11Arg)
6	g.136822698G>A	CA365855131	PEX7	c.33G>A (p.Met11Ile)	gnomAD v4
6	g.136822698G>C	CA365855132	PEX7	c.33G>C (p.Met11Ile)
6	g.136822698G>T	CA365855134	PEX7	c.33G>T (p.Met11Ile)	gnomAD v4
6	g.136822700_136822708dup	CA819500041	PEX7	c.35_43dup (p.Thr14_Pro15insLeuArgThr)	ClinVar dbSNP gnomAD v4
6	g.136822699C>A	CA365855138	PEX7	c.34C>A (p.Leu12Met)

Number of alleles fetched