Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.136822687_136822696del	CA2697553780	PEX7	c.22_31del (p.Ala8CysfsTer?)	ClinVar
6	g.136822692_136822708dup	CA2773214146	PEX7	c.27_43dup (p.Pro15ArgfsTer?)
6	g.136822697_136822705dup	CA4017480	PEX7	c.32_40dup (p.Arg13_Thr14insMetLeuArg)	dbSNP ExAC gnomAD v2 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.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)
6	g.136822699C>G	CA365855136	PEX7	c.34C>G (p.Leu12Val)
6	g.136822699C>T	CA452374669	PEX7	c.34C>T (p.Leu12=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.136822700T>A	CA365855140	PEX7	c.35T>A (p.Leu12Gln)
6	g.136822700T>C	CA365855142	PEX7	c.35T>C (p.Leu12Pro)	gnomAD v4
6	g.136822700T>G	CA365855144	PEX7	c.35T>G (p.Leu12Arg)
6	g.136822700dup	CA913109583	PEX7	c.35dup (p.Arg13AlafsTer?)
6	g.136822701G>A	CA452374670	PEX7	c.36G>A (p.Leu12=)
6	g.136822701G>C	CA452374671	PEX7	c.36G>C (p.Leu12=)	dbSNP gnomAD v4
6	g.136822701G>T	CA452374672	PEX7	c.36G>T (p.Leu12=)	gnomAD v4
6	g.136822702_136822710dup	CA658822862	PEX7	c.37_45dup (p.Pro15_Gly16insArgThrPro)	ClinVar dbSNP
6	g.136822702C>A	CA452374673	PEX7	c.37C>A (p.Arg13=)	gnomAD v4
6	g.136822702C>G	CA365855145	PEX7	c.37C>G (p.Arg13Gly)
6	g.136822702C>T	CA365855146	PEX7	c.37C>T (p.Arg13Trp)	dbSNP gnomAD v4
6	g.136822705_136822721dup	CA2680487937	PEX7	c.40_56dup (p.Tyr20ArgfsTer?)	gnomAD v4
6	g.136822703G>A	CA365855153	PEX7	c.38G>A (p.Arg13Gln)	ClinVar dbSNP gnomAD v4
6	g.136822703G>C	CA365855151	PEX7	c.38G>C (p.Arg13Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822703G>T	CA365855149	PEX7	c.38G>T (p.Arg13Leu)	gnomAD v4
6	g.136822710_136822717dup	CA130256	PEX7	c.45_52dup (p.His18ArgfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.136822710_136822717del	CA148640674	PEX7	c.45_52del (p.Gly16ArgfsTer?)	ClinVar dbSNP
6	g.136822704G>A	CA452374674	PEX7	c.39G>A (p.Arg13=)	ClinVar gnomAD v4
6	g.136822704G>C	CA452374675	PEX7	c.39G>C (p.Arg13=)
6	g.136822704G>T	CA452374676	PEX7	c.39G>T (p.Arg13=)	gnomAD v4
6	g.136822705A>C	CA119078	PEX7	c.40A>C (p.Thr14Pro)	ClinVar dbSNP gnomAD v4
6	g.136822705A>G	CA365855155	PEX7	c.40A>G (p.Thr14Ala)	gnomAD v4
6	g.136822705A>T	CA365855157	PEX7	c.40A>T (p.Thr14Ser)	gnomAD v4
6	g.136822706C>A	CA365855159	PEX7	c.41C>A (p.Thr14Lys)	gnomAD v4
6	g.136822706C>G	CA365855161	PEX7	c.41C>G (p.Thr14Arg)	gnomAD v4
6	g.136822706C>T	CA365855162	PEX7	c.41C>T (p.Thr14Met)	ClinVar gnomAD v4
6	g.136822707G>A	CA452374678	PEX7	c.42G>A (p.Thr14=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822707G>C	CA452374679	PEX7	c.42G>C (p.Thr14=)
6	g.136822707G>T	CA452374677	PEX7	c.42G>T (p.Thr14=)	gnomAD v4
6	g.136822708C>A	CA365855170	PEX7	c.43C>A (p.Pro15Thr)	gnomAD v4
6	g.136822708C>G	CA365855166	PEX7	c.43C>G (p.Pro15Ala)	gnomAD v4
6	g.136822708C>T	CA365855167	PEX7	c.43C>T (p.Pro15Ser)	gnomAD v4
6	g.136822709C>A	CA365855172	PEX7	c.44C>A (p.Pro15Gln)	gnomAD v4
6	g.136822709C>G	CA365855174	PEX7	c.44C>G (p.Pro15Arg)
6	g.136822709C>T	CA148640675	PEX7	c.44C>T (p.Pro15Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822710G>A	CA452374680	PEX7	c.45G>A (p.Pro15=)	dbSNP gnomAD v4
6	g.136822710G>C	CA452374681	PEX7	c.45G>C (p.Pro15=)
6	g.136822710G>T	CA452374682	PEX7	c.45G>T (p.Pro15=)	gnomAD v4
6	g.136822711_136822712del	CA2580075086	PEX7	c.46_47del (p.Gly16ThrfsTer?)	ClinVar
6	g.136822711G>A	CA365855175	PEX7	c.46G>A (p.Gly16Arg)	dbSNP gnomAD v3 gnomAD v4
6	g.136822711G>C	CA365855177	PEX7	c.46G>C (p.Gly16Arg)	ClinVar dbSNP
6	g.136822711G>T	CA365855178	PEX7	c.46G>T (p.Gly16Ter)	gnomAD v4
6	g.136822712G>A	CA365855180	PEX7	c.47G>A (p.Gly16Glu)	dbSNP gnomAD v3 gnomAD v4
6	g.136822712G>C	CA365855182	PEX7	c.47G>C (p.Gly16Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.136822712G>T	CA365855183	PEX7	c.47G>T (p.Gly16Val)	gnomAD v4
6	g.136822713_136822734dup	CA2680487938	PEX7	c.48_69dup (p.Phe24ThrfsTer?)	gnomAD v4
6	g.136822713A>C	CA452374683	PEX7	c.48A>C (p.Gly16=)
6	g.136822713A>G	CA452374684	PEX7	c.48A>G (p.Gly16=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822713A>T	CA452374685	PEX7	c.48A>T (p.Gly16=)
6	g.136822714C>A	CA365855185	PEX7	c.49C>A (p.Arg17Ser)	dbSNP gnomAD v4 COSMIC COSMIC
6	g.136822714C>G	CA365855187	PEX7	c.49C>G (p.Arg17Gly)	gnomAD v4
6	g.136822714C>T	CA365855189	PEX7	c.49C>T (p.Arg17Cys)	gnomAD v4
6	g.136822714_136822735dup	CA916082904	PEX7	c.49_70dup (p.Phe24SerfsTer?)	ClinVar dbSNP
6	g.136822715G>A	CA365855193	PEX7	c.50G>A (p.Arg17His)	gnomAD v4
6	g.136822715G>C	CA365855190	PEX7	c.50G>C (p.Arg17Pro)
6	g.136822715G>T	CA365855191	PEX7	c.50G>T (p.Arg17Leu)	gnomAD v4
6	g.136822716C>A	CA452374686	PEX7	c.51C>A (p.Arg17=)	gnomAD v4
6	g.136822716C>G	CA452374687	PEX7	c.51C>G (p.Arg17=)
6	g.136822716C>T	CA452374688	PEX7	c.51C>T (p.Arg17=)	dbSNP gnomAD v2 gnomAD v4
6	g.136822717dup	CA2580075087	PEX7	c.52dup (p.His18ProfsTer?)	ClinVar
6	g.136822717C>A	CA365855195	PEX7	c.52C>A (p.His18Asn)	gnomAD v4
6	g.136822717C>G	CA365855197	PEX7	c.52C>G (p.His18Asp)
6	g.136822717C>T	CA148640676	PEX7	c.52C>T (p.His18Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822718A>C	CA365855200	PEX7	c.53A>C (p.His18Pro)
6	g.136822718A>G	CA365855202	PEX7	c.53A>G (p.His18Arg)	ClinVar dbSNP gnomAD v4
6	g.136822718A>T	CA365855203	PEX7	c.53A>T (p.His18Leu)
6	g.136822719C>A	CA365855207	PEX7	c.54C>A (p.His18Gln)	gnomAD v4
6	g.136822719C>G	CA365855206	PEX7	c.54C>G (p.His18Gln)
6	g.136822719C>T	CA452374689	PEX7	c.54C>T (p.His18=)	ClinVar dbSNP gnomAD v4
6	g.136822720G>A	CA365855209	PEX7	c.55G>A (p.Gly19Ser)	gnomAD v4
6	g.136822720G>C	CA365855211	PEX7	c.55G>C (p.Gly19Arg)
6	g.136822720G>T	CA365855212	PEX7	c.55G>T (p.Gly19Cys)	gnomAD v4
6	g.136822721G>A	CA365855213	PEX7	c.56G>A (p.Gly19Asp)	dbSNP gnomAD v4
6	g.136822721G>C	CA365855216	PEX7	c.56G>C (p.Gly19Ala)	gnomAD v4
6	g.136822721G>T	CA365855218	PEX7	c.56G>T (p.Gly19Val)	gnomAD v4
6	g.136822722_136822732dup	CA452374690	PEX7	c.57_67dup (p.Glu23AlafsTer31)	ClinVar dbSNP gnomAD v4
6	g.136822722C>A	CA452374693	PEX7	c.57C>A (p.Gly19=)	gnomAD v4
6	g.136822722C>G	CA452374691	PEX7	c.57C>G (p.Gly19=)
6	g.136822722C>T	CA452374692	PEX7	c.57C>T (p.Gly19=)	ClinVar dbSNP gnomAD v4
6	g.136822723T>A	CA365855220	PEX7	c.58T>A (p.Tyr20Asn)
6	g.136822723T>C	CA365855223	PEX7	c.58T>C (p.Tyr20His)	gnomAD v4
6	g.136822723T>G	CA365855222	PEX7	c.58T>G (p.Tyr20Asp)
6	g.136822724A>C	CA365855226	PEX7	c.59A>C (p.Tyr20Ser)
6	g.136822724A>G	CA365855228	PEX7	c.59A>G (p.Tyr20Cys)	dbSNP gnomAD v4
6	g.136822724A>T	CA365855229	PEX7	c.59A>T (p.Tyr20Phe)
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
6	g.136822740C>A	CA452374701	PEX7	c.75C>A (p.Ser25=)	gnomAD v4
6	g.136822740C>G	CA452374703	PEX7	c.75C>G (p.Ser25=)	dbSNP
6	g.136822740C>T	CA452374702	PEX7	c.75C>T (p.Ser25=)	ClinVar dbSNP gnomAD v4
6	g.136822741C>A	CA365855283	PEX7	c.76C>A (p.Pro26Thr)	gnomAD v4
6	g.136822741C>G	CA365855284	PEX7	c.76C>G (p.Pro26Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.136822741C>T	CA365855285	PEX7	c.76C>T (p.Pro26Ser)	gnomAD v4
6	g.136822742C>A	CA365855287	PEX7	c.77C>A (p.Pro26Gln)	gnomAD v4
6	g.136822742C>G	CA365855288	PEX7	c.77C>G (p.Pro26Arg)	ClinVar dbSNP gnomAD v2
6	g.136822742C>T	CA148640681	PEX7	c.77C>T (p.Pro26Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822743G>A	CA452374704	PEX7	c.78G>A (p.Pro26=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.136822743G>C	CA452374705	PEX7	c.78G>C (p.Pro26=)
6	g.136822743G>T	CA452374706	PEX7	c.78G>T (p.Pro26=)	gnomAD v4
6	g.136822744T>A	CA365855294	PEX7	c.79T>A (p.Tyr27Asn)
6	g.136822744T>C	CA365855293	PEX7	c.79T>C (p.Tyr27His)	gnomAD v4
6	g.136822744T>G	CA365855291	PEX7	c.79T>G (p.Tyr27Asp)
6	g.136822745A>C	CA365855297	PEX7	c.80A>C (p.Tyr27Ser)	dbSNP gnomAD v4
6	g.136822745A>G	CA365855299	PEX7	c.80A>G (p.Tyr27Cys)	gnomAD v4
6	g.136822745A>T	CA365855300	PEX7	c.80A>T (p.Tyr27Phe)	gnomAD v4
6	g.136822746C>A	CA365855302	PEX7	c.81C>A (p.Tyr27Ter)	gnomAD v4
6	g.136822746C>G	CA16041010	PEX7	c.81C>G (p.Tyr27Ter)	ClinVar dbSNP
6	g.136822746C>T	CA452374707	PEX7	c.81C>T (p.Tyr27=)	ClinVar dbSNP gnomAD v4
6	g.136822747dup	CA570743842	PEX7	c.82dup (p.Leu28ProfsTer28)	dbSNP gnomAD v2
6	g.136822746_136822747insA	CA2773214187	PEX7	c.81_82insA (p.Leu28ThrfsTer28)
6	g.136822747C>A	CA365855305	PEX7	c.82C>A (p.Leu28Met)	gnomAD v4
6	g.136822747C>G	CA365855307	PEX7	c.82C>G (p.Leu28Val)
6	g.136822747C>T	CA4017481	PEX7	c.82C>T (p.Leu28=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.136822748T>A	CA365855309	PEX7	c.83T>A (p.Leu28Gln)	gnomAD v4
6	g.136822748T>C	CA365855310	PEX7	c.83T>C (p.Leu28Pro)	dbSNP gnomAD v2 gnomAD v4
6	g.136822748T>G	CA148640682	PEX7	c.83T>G (p.Leu28Arg)	dbSNP gnomAD v3 gnomAD v4
6	g.136822749G>A	CA452374708	PEX7	c.84G>A (p.Leu28=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822749G>C	CA452374709	PEX7	c.84G>C (p.Leu28=)	ClinVar gnomAD v4
6	g.136822749G>T	CA452374710	PEX7	c.84G>T (p.Leu28=)	dbSNP gnomAD v4
6	g.136822750C>A	CA365855315	PEX7	c.85C>A (p.Pro29Thr)	gnomAD v4
6	g.136822750C>G	CA365855313	PEX7	c.85C>G (p.Pro29Ala)	ClinVar
6	g.136822750C>T	CA365855311	PEX7	c.85C>T (p.Pro29Ser)	dbSNP gnomAD v2 gnomAD v4
6	g.136822751C>A	CA365855316	PEX7	c.86C>A (p.Pro29Gln)	gnomAD v4
6	g.136822751C>G	CA365855318	PEX7	c.86C>G (p.Pro29Arg)
6	g.136822751C>T	CA4017482	PEX7	c.86C>T (p.Pro29Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822752G>A	CA452374711	PEX7	c.87G>A (p.Pro29=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822752G>C	CA452374712	PEX7	c.87G>C (p.Pro29=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822752G>T	CA452374713	PEX7	c.87G>T (p.Pro29=)	gnomAD v4
6	g.136822754del	CA570743851	PEX7	c.89del (p.Gly30AlafsTer20)	dbSNP gnomAD v2 gnomAD v4
6	g.136822753G>A	CA365855321	PEX7	c.88G>A (p.Gly30Ser)	gnomAD v4
6	g.136822753G>C	CA365855322	PEX7	c.88G>C (p.Gly30Arg)
6	g.136822753G>T	CA365855324	PEX7	c.88G>T (p.Gly30Cys)	gnomAD v4
6	g.136822754G>A	CA365855326	PEX7	c.89G>A (p.Gly30Asp)	dbSNP gnomAD v3 gnomAD v4
6	g.136822754G>C	CA148640683	PEX7	c.89G>C (p.Gly30Ala)	dbSNP gnomAD v4
6	g.136822754G>T	CA365855328	PEX7	c.89G>T (p.Gly30Val)	gnomAD v4
6	g.136822755C>A	CA452374716	PEX7	c.90C>A (p.Gly30=)	ClinVar dbSNP gnomAD v4
6	g.136822755C>G	CA452374714	PEX7	c.90C>G (p.Gly30=)
6	g.136822755C>T	CA452374715	PEX7	c.90C>T (p.Gly30=)	ClinVar dbSNP gnomAD v4
6	g.136822756del	CA2680487940	PEX7	c.91del (p.Arg31AlafsTer19)	gnomAD v4
6	g.136822756C>A	CA365855329	PEX7	c.91C>A (p.Arg31Ser)	dbSNP gnomAD v4
6	g.136822756C>G	CA365855331	PEX7	c.91C>G (p.Arg31Gly)
6	g.136822756C>T	CA365855333	PEX7	c.91C>T (p.Arg31Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822757G>A	CA365855336	PEX7	c.92G>A (p.Arg31His)	gnomAD v4
6	g.136822757G>C	CA365855334	PEX7	c.92G>C (p.Arg31Pro)	gnomAD v4
6	g.136822757G>T	CA148640684	PEX7	c.92G>T (p.Arg31Leu)	dbSNP gnomAD v4
6	g.136822758C>A	CA452374717	PEX7	c.93C>A (p.Arg31=)
6	g.136822758C>G	CA452374718	PEX7	c.93C>G (p.Arg31=)
6	g.136822758C>T	CA452374719	PEX7	c.93C>T (p.Arg31=)	gnomAD v4
6	g.136822759C>A	CA365855338	PEX7	c.94C>A (p.Leu32Met)	gnomAD v4
6	g.136822759C>G	CA365855339	PEX7	c.94C>G (p.Leu32Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.136822759C>T	CA10623035	PEX7	c.94C>T (p.Leu32=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822760T>A	CA365855343	PEX7	c.95T>A (p.Leu32Gln)	gnomAD v4
6	g.136822760T>C	CA365855344	PEX7	c.95T>C (p.Leu32Pro)	gnomAD v4
6	g.136822760T>G	CA365855346	PEX7	c.95T>G (p.Leu32Arg)
6	g.136822761G>A	CA452374720	PEX7	c.96G>A (p.Leu32=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.136822761G>C	CA452374722	PEX7	c.96G>C (p.Leu32=)
6	g.136822761G>T	CA452374721	PEX7	c.96G>T (p.Leu32=)	gnomAD v4
6	g.136822762G>A	CA365855352	PEX7	c.97G>A (p.Ala33Thr)	gnomAD v4
6	g.136822762G>C	CA365855350	PEX7	c.97G>C (p.Ala33Pro)
6	g.136822762G>T	CA365855349	PEX7	c.97G>T (p.Ala33Ser)	gnomAD v4
6	g.136822763C>A	CA365855353	PEX7	c.98C>A (p.Ala33Asp)	gnomAD v4
6	g.136822763C>G	CA365855354	PEX7	c.98C>G (p.Ala33Gly)
6	g.136822763C>T	CA365855356	PEX7	c.98C>T (p.Ala33Val)	dbSNP gnomAD v2 gnomAD v4
6	g.136822764C>A	CA452374723	PEX7	c.99C>A (p.Ala33=)	gnomAD v4
6	g.136822764C>G	CA452374724	PEX7	c.99C>G (p.Ala33=)
6	g.136822764C>T	CA452374725	PEX7	c.99C>T (p.Ala33=)	dbSNP
6	g.136822765T>A	CA365855358	PEX7	c.100T>A (p.Cys34Ser)	gnomAD v4
6	g.136822765T>C	CA365855359	PEX7	c.100T>C (p.Cys34Arg)	gnomAD v4
6	g.136822765T>G	CA365855360	PEX7	c.100T>G (p.Cys34Gly)	ClinVar dbSNP gnomAD v4
6	g.136822765dup	CA2680487941	PEX7	c.100dup (p.Cys34LeufsTer22)	gnomAD v4
6	g.136822766G>A	CA365855361	PEX7	c.101G>A (p.Cys34Tyr)	gnomAD v3 gnomAD v4
6	g.136822766G>C	CA365855365	PEX7	c.101G>C (p.Cys34Ser)
6	g.136822766G>T	CA365855363	PEX7	c.101G>T (p.Cys34Phe)	gnomAD v4
6	g.136822767C>A	CA365855367	PEX7	c.102C>A (p.Cys34Ter)	gnomAD v4
6	g.136822767C>G	CA365855369	PEX7	c.102C>G (p.Cys34Trp)
6	g.136822767C>T	CA452374726	PEX7	c.102C>T (p.Cys34=)	gnomAD v4
6	g.136822768G>A	CA365855371	PEX7	c.103G>A (p.Ala35Thr)	gnomAD v4
6	g.136822768G>C	CA365855373	PEX7	c.103G>C (p.Ala35Pro)
6	g.136822768G>T	CA365855375	PEX7	c.103G>T (p.Ala35Ser)	gnomAD v4
6	g.136822769C>A	CA365855376	PEX7	c.104C>A (p.Ala35Asp)	gnomAD v4
6	g.136822769C>G	CA365855379	PEX7	c.104C>G (p.Ala35Gly)
6	g.136822769C>T	CA365855381	PEX7	c.104C>T (p.Ala35Val)	gnomAD v4
6	g.136822771_136822773del	CA2680487942	PEX7	c.106_108del (p.Thr36del)	gnomAD v4
6	g.136822770_136822782del	CA2580075116	PEX7	c.105_117del (p.Gln38SerfsTer8)	ClinVar
6	g.136822770C>A	CA452374727	PEX7	c.105C>A (p.Ala35=)	gnomAD v4
6	g.136822770C>G	CA452374728	PEX7	c.105C>G (p.Ala35=)
6	g.136822770C>T	CA452374729	PEX7	c.105C>T (p.Ala35=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822771A>C	CA365855383	PEX7	c.106A>C (p.Thr36Pro)
6	g.136822771A>G	CA365855385	PEX7	c.106A>G (p.Thr36Ala)	gnomAD v4
6	g.136822771A>T	CA365855387	PEX7	c.106A>T (p.Thr36Ser)
6	g.136822772C>A	CA365855389	PEX7	c.107C>A (p.Thr36Asn)	gnomAD v4
6	g.136822772C>G	CA365855391	PEX7	c.107C>G (p.Thr36Ser)
6	g.136822772C>T	CA148640685	PEX7	c.107C>T (p.Thr36Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822781_136822815del	CA2680487943	PEX7	c.116_130+20del	gnomAD v4
6	g.136822773C>A	CA452374730	PEX7	c.108C>A (p.Thr36=)	gnomAD v4
6	g.136822773C>G	CA452374731	PEX7	c.108C>G (p.Thr36=)	ClinVar
6	g.136822773C>T	CA452374732	PEX7	c.108C>T (p.Thr36=)	gnomAD v4
6	g.136822776_136822777del	CA2580615780	PEX7	c.111_112del (p.Gln38AlafsTer17)	ClinVar
6	g.136822773_136822774insTG	CA2680487944	PEX7	c.108_109insTG (p.Ala37TrpfsTer14)	gnomAD v4
6	g.136822774G>A	CA365855392	PEX7	c.109G>A (p.Ala37Thr)	gnomAD v4
6	g.136822774G>C	CA365855395	PEX7	c.109G>C (p.Ala37Pro)	gnomAD v4
6	g.136822774G>T	CA365855397	PEX7	c.109G>T (p.Ala37Ser)	dbSNP gnomAD v4
6	g.136822775C>A	CA365855398	PEX7	c.110C>A (p.Ala37Glu)	gnomAD v4
6	g.136822775C>G	CA365855401	PEX7	c.110C>G (p.Ala37Gly)	gnomAD v4
6	g.136822775C>T	CA365855402	PEX7	c.110C>T (p.Ala37Val)	gnomAD v4
6	g.136822775_136822776insCT	CA2680487945	PEX7	c.110_111insCT (p.Gln38CysfsTer13)	gnomAD v4
6	g.136822776G>A	CA452374735	PEX7	c.111G>A (p.Ala37=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822776G>C	CA452374733	PEX7	c.111G>C (p.Ala37=)	dbSNP gnomAD v3 gnomAD v4
6	g.136822776G>T	CA452374734	PEX7	c.111G>T (p.Ala37=)	gnomAD v4
6	g.136822777C>A	CA365855404	PEX7	c.112C>A (p.Gln38Lys)	gnomAD v4
6	g.136822777C>G	CA365855406	PEX7	c.112C>G (p.Gln38Glu)	dbSNP gnomAD v4
6	g.136822777C>T	CA365855408	PEX7	c.112C>T (p.Gln38Ter)	ClinVar dbSNP gnomAD v4
6	g.136822778A>C	CA365855409	PEX7	c.113A>C (p.Gln38Pro)
6	g.136822778A>G	CA365855411	PEX7	c.113A>G (p.Gln38Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.136822778A>T	CA365855412	PEX7	c.113A>T (p.Gln38Leu)
6	g.136822779G>A	CA452374736	PEX7	c.114G>A (p.Gln38=)	gnomAD v4
6	g.136822779G>C	CA365855415	PEX7	c.114G>C (p.Gln38His)
6	g.136822779G>T	CA365855414	PEX7	c.114G>T (p.Gln38His)
6	g.136822780C>A	CA365855418	PEX7	c.115C>A (p.His39Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822780C>G	CA365855419	PEX7	c.115C>G (p.His39Asp)
6	g.136822780C>T	CA365855422	PEX7	c.115C>T (p.His39Tyr)	dbSNP gnomAD v4
6	g.136822781A>C	CA148640686	PEX7	c.116A>C (p.His39Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.136822781A>G	CA365855424	PEX7	c.116A>G (p.His39Arg)	ClinVar dbSNP
6	g.136822781A>T	CA365855426	PEX7	c.116A>T (p.His39Leu)
6	g.136822782C>A	CA365855429	PEX7	c.117C>A (p.His39Gln)	gnomAD v4
6	g.136822782C>G	CA4017483	PEX7	c.117C>G (p.His39Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822782C>T	CA4017484	PEX7	c.117C>T (p.His39=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.136822782dup	CA2578751591	PEX7	c.117dup (p.Tyr40LeufsTer16)
6	g.136822783T>A	CA365855432	PEX7	c.118T>A (p.Tyr40Asn)
6	g.136822783T>C	CA365855434	PEX7	c.118T>C (p.Tyr40His)
6	g.136822783T>G	CA365855435	PEX7	c.118T>G (p.Tyr40Asp)	dbSNP gnomAD v3 gnomAD v4
6	g.136822784A>C	CA365855439	PEX7	c.119A>C (p.Tyr40Ser)
6	g.136822784A>G	CA148640687	PEX7	c.119A>G (p.Tyr40Cys)	dbSNP gnomAD v2 gnomAD v4
6	g.136822784A>T	CA365855437	PEX7	c.119A>T (p.Tyr40Phe)
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.136822791_136822792insAGA	CA2773214262	PEX7	c.126_127insAGA (p.Ile42_Ala43insArg)
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

Number of alleles fetched