Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.136822713_136822734dup	CA2680487938	PEX7	c.48_69dup (p.Phe24ThrfsTer?)	gnomAD v4
6	g.136822714_136822735dup	CA916082904	PEX7	c.49_70dup (p.Phe24SerfsTer?)	ClinVar dbSNP
6	g.136822722_136822732dup	CA452374690	PEX7	c.57_67dup (p.Glu23AlafsTer31)	ClinVar dbSNP gnomAD v4
6	g.136822725C>A	CA365855231	PEX7	c.60C>A (p.Tyr20Ter)
6	g.136822725C>G	CA16041009	PEX7	c.60C>G (p.Tyr20Ter)	ClinVar dbSNP
6	g.136822725C>T	CA452374694	PEX7	c.60C>T (p.Tyr20=)	ClinVar dbSNP gnomAD v4
6	g.136822726G>A	CA365855234	PEX7	c.61G>A (p.Ala21Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.136822726G>C	CA365855236	PEX7	c.61G>C (p.Ala21Pro)
6	g.136822726G>T	CA365855238	PEX7	c.61G>T (p.Ala21Ser)	gnomAD v4
6	g.136822727C>A	CA365855239	PEX7	c.62C>A (p.Ala21Asp)
6	g.136822727C>G	CA365855241	PEX7	c.62C>G (p.Ala21Gly)
6	g.136822727C>T	CA365855242	PEX7	c.62C>T (p.Ala21Val)	gnomAD v4
6	g.136822728C>A	CA148640677	PEX7	c.63C>A (p.Ala21=)	ClinVar dbSNP gnomAD v4
6	g.136822728C>G	CA148640678	PEX7	c.63C>G (p.Ala21=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822728C>T	CA452374695	PEX7	c.63C>T (p.Ala21=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822729_136822730del	CA148640679	PEX7	c.64_65del (p.Ala22ArgfsTer?)	dbSNP
6	g.136822729G>A	CA365855245	PEX7	c.64G>A (p.Ala22Thr)	dbSNP gnomAD v4
6	g.136822729G>C	CA365855248	PEX7	c.64G>C (p.Ala22Pro)
6	g.136822729G>T	CA365855247	PEX7	c.64G>T (p.Ala22Ser)	gnomAD v4
6	g.136822730C>A	CA365855249	PEX7	c.65C>A (p.Ala22Asp)	gnomAD v4
6	g.136822730C>G	CA365855251	PEX7	c.65C>G (p.Ala22Gly)
6	g.136822730C>T	CA148640680	PEX7	c.65C>T (p.Ala22Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822731C>A	CA452374696	PEX7	c.66C>A (p.Ala22=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822731C>G	CA452374697	PEX7	c.66C>G (p.Ala22=)	ClinVar
6	g.136822731C>T	CA452374698	PEX7	c.66C>T (p.Ala22=)	ClinVar dbSNP gnomAD v4
6	g.136822732G>A	CA365855253	PEX7	c.67G>A (p.Glu23Lys)	ClinVar dbSNP gnomAD v4
6	g.136822732G>C	CA365855256	PEX7	c.67G>C (p.Glu23Gln)	ClinVar
6	g.136822732G>T	CA365855254	PEX7	c.67G>T (p.Glu23Ter)	gnomAD v4
6	g.136822733A>C	CA365855259	PEX7	c.68A>C (p.Glu23Ala)
6	g.136822733A>G	CA365855260	PEX7	c.68A>G (p.Glu23Gly)
6	g.136822733A>T	CA365855261	PEX7	c.68A>T (p.Glu23Val)
6	g.136822734G>A	CA452374699	PEX7	c.69G>A (p.Glu23=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822734G>C	CA365855262	PEX7	c.69G>C (p.Glu23Asp)	dbSNP gnomAD v4
6	g.136822734G>T	CA365855263	PEX7	c.69G>T (p.Glu23Asp)	gnomAD v4
6	g.136822735T>A	CA365855265	PEX7	c.70T>A (p.Phe24Ile)
6	g.136822735T>C	CA365855266	PEX7	c.70T>C (p.Phe24Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.136822735T>G	CA365855267	PEX7	c.70T>G (p.Phe24Val)	dbSNP gnomAD v3 gnomAD v4
6	g.136822736T>A	CA365855269	PEX7	c.71T>A (p.Phe24Tyr)
6	g.136822736T>C	CA365855271	PEX7	c.71T>C (p.Phe24Ser)	gnomAD v4
6	g.136822736T>G	CA365855273	PEX7	c.71T>G (p.Phe24Cys)	gnomAD v4
6	g.136822737C>A	CA365855274	PEX7	c.72C>A (p.Phe24Leu)	ClinVar gnomAD v4 COSMIC COSMIC
6	g.136822737C>G	CA365855276	PEX7	c.72C>G (p.Phe24Leu)	dbSNP
6	g.136822737C>T	CA452374700	PEX7	c.72C>T (p.Phe24=)	ClinVar dbSNP
6	g.136822738del	CA2680487939	PEX7	c.73del (p.Ser25ProfsTer25)	gnomAD v4
6	g.136822738T>A	CA365855277	PEX7	c.73T>A (p.Ser25Thr)	gnomAD v4
6	g.136822738T>C	CA365855279	PEX7	c.73T>C (p.Ser25Pro)	gnomAD v4
6	g.136822738T>G	CA365855278	PEX7	c.73T>G (p.Ser25Ala)
6	g.136822739C>A	CA365855281	PEX7	c.74C>A (p.Ser25Tyr)
6	g.136822739C>G	CA365855282	PEX7	c.74C>G (p.Ser25Cys)
6	g.136822739C>T	CA274123	PEX7	c.74C>T (p.Ser25Phe)	ClinVar dbSNP

Number of alleles fetched