Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.61045731A=CA1255174165PEX13c.793A= (p.Ile265=)
c.676A= (p.Ile226=)
2g.61045731A>CCA346948033PEX13c.793A>C (p.Ile265Leu)
c.676A>C (p.Ile226Leu)
2g.61045731A>GCA1673359PEX13c.793A>G (p.Ile265Val)
c.676A>G (p.Ile226Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.61045731A>TCA346948040PEX13c.793A>T (p.Ile265Phe)
c.676A>T (p.Ile226Phe)
2g.61045732T>ACA346948044PEX13c.794T>A (p.Ile265Asn)
c.677T>A (p.Ile226Asn)
2g.61045732T>CCA346948045PEX13c.794T>C (p.Ile265Thr)
c.677T>C (p.Ile226Thr)
2g.61045732T>GCA346948046PEX13c.794T>G (p.Ile265Ser)
c.677T>G (p.Ile226Ser)
2g.61045733C>ACA426187236PEX13c.795C>A (p.Ile265=)
c.678C>A (p.Ile226=)
2g.61045733C>GCA346948047PEX13c.795C>G (p.Ile265Met)
c.678C>G (p.Ile226Met)
2g.61045733C>TCA426187240PEX13c.795C>T (p.Ile265=)
c.678C>T (p.Ile226=)
2g.61045734A>CCA346948049PEX13c.796A>C (p.Asn266His)
c.679A>C (p.Asn227His)
2g.61045734A>GCA346948054PEX13c.796A>G (p.Asn266Asp)
c.679A>G (p.Asn227Asp)
2g.61045734A>TCA346948051PEX13c.796A>T (p.Asn266Tyr)
c.679A>T (p.Asn227Tyr)
2g.61045735A>CCA346948057PEX13c.797A>C (p.Asn266Thr)
c.680A>C (p.Asn227Thr)
2g.61045735A>GCA346948061PEX13c.797A>G (p.Asn266Ser)
c.680A>G (p.Asn227Ser)
 gnomAD v4
2g.61045735A>TCA346948062PEX13c.797A>T (p.Asn266Ile)
c.680A>T (p.Asn227Ile)
2g.61045736C>ACA346948069PEX13c.798C>A (p.Asn266Lys)
c.681C>A (p.Asn227Lys)
2g.61045736C>GCA346948072PEX13c.798C>G (p.Asn266Lys)
c.681C>G (p.Asn227Lys)
2g.61045736C>TCA426187250PEX13c.798C>T (p.Asn266=)
c.681C>T (p.Asn227=)
2g.61045737T>ACA346948080PEX13c.799T>A (p.Trp267Arg)
c.682T>A (p.Trp228Arg)
2g.61045737T>CCA346948077PEX13c.799T>C (p.Trp267Arg)
c.682T>C (p.Trp228Arg)
2g.61045737T>GCA346948075PEX13c.799T>G (p.Trp267Gly)
c.682T>G (p.Trp228Gly)
2g.61045738G>ACA346948088PEX13c.800G>A (p.Trp267Ter)
c.683G>A (p.Trp228Ter)
2g.61045738G>CCA346948090PEX13c.800G>C (p.Trp267Ser)
c.683G>C (p.Trp228Ser)
2g.61045738G>TCA346948093PEX13c.800G>T (p.Trp267Leu)
c.683G>T (p.Trp228Leu)
2g.61045740delCA2576977583PEX13c.802del (p.Ala268GlnfsTer8)
c.685del (p.Ala229GlnfsTer8)
2g.61045739G>ACA346948096PEX13c.801G>A (p.Trp267Ter)
c.684G>A (p.Trp228Ter)
 ClinVar gnomAD v4
2g.61045739G>CCA346948104PEX13c.801G>C (p.Trp267Cys)
c.684G>C (p.Trp228Cys)
2g.61045739G>TCA346948108PEX13c.801G>T (p.Trp267Cys)
c.684G>T (p.Trp228Cys)
2g.61045740G>ACA1673360PEX13c.802G>A (p.Ala268Thr)
c.685G>A (p.Ala229Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.61045740G>CCA346948113PEX13c.802G>C (p.Ala268Pro)
c.685G>C (p.Ala229Pro)
2g.61045740G=CA1255174170PEX13c.802G= (p.Ala268=)
c.685G= (p.Ala229=)
2g.61045740G>TCA346948111PEX13c.802G>T (p.Ala268Ser)
c.685G>T (p.Ala229Ser)
2g.61045741C>ACA346948116PEX13c.803C>A (p.Ala268Glu)
c.686C>A (p.Ala229Glu)
 gnomAD v4
2g.61045741C>GCA346948118PEX13c.803C>G (p.Ala268Gly)
c.686C>G (p.Ala229Gly)
2g.61045741C>TCA346948120PEX13c.803C>T (p.Ala268Val)
c.686C>T (p.Ala229Val)
2g.61045742A=CA1255174173PEX13c.804A= (p.Ala268=)
c.687A= (p.Ala229=)
2g.61045742A>CCA426187268PEX13c.804A>C (p.Ala268=)
c.687A>C (p.Ala229=)
2g.61045742A>GCA426187270PEX13c.804A>G (p.Ala268=)
c.687A>G (p.Ala229=)
2g.61045742A>TCA426187271PEX13c.804A>T (p.Ala268=)
c.687A>T (p.Ala229=)
 dbSNP gnomAD v4
2g.61045743A=CA1255174175PEX13c.805A= (p.Ser269=)
c.688A= (p.Ser230=)
2g.61045743A>CCA346948124PEX13c.805A>C (p.Ser269Arg)
c.688A>C (p.Ser230Arg)
2g.61045743A>GCA346948127PEX13c.805A>G (p.Ser269Gly)
c.688A>G (p.Ser230Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.61045743A>TCA346948129PEX13c.805A>T (p.Ser269Cys)
c.688A>T (p.Ser230Cys)
2g.61045744G>ACA346948132PEX13c.806G>A (p.Ser269Asn)
c.689G>A (p.Ser230Asn)
 gnomAD v4
2g.61045744G>CCA346948137PEX13c.806G>C (p.Ser269Thr)
c.689G>C (p.Ser230Thr)
 ClinVar dbSNP gnomAD v4
2g.61045744G>TCA346948140PEX13c.806G>T (p.Ser269Ile)
c.689G>T (p.Ser230Ile)
2g.61045745T>ACA346948143PEX13c.807T>A (p.Ser269Arg)
c.690T>A (p.Ser230Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.61045745T>CCA426187281PEX13c.807T>C (p.Ser269=)
c.690T>C (p.Ser230=)
 ClinVar dbSNP gnomAD v4
2g.61045745T>GCA346948144PEX13c.807T>G (p.Ser269Arg)
c.690T>G (p.Ser230Arg)
2g.61045745T=CA1255174178PEX13c.807T= (p.Ser269=)
c.690T= (p.Ser230=)
2g.61045746G>ACA346948147PEX13c.808G>A (p.Gly270Ser)
c.691G>A (p.Gly231Ser)
2g.61045746G>CCA346948151PEX13c.808G>C (p.Gly270Arg)
c.691G>C (p.Gly231Arg)
2g.61045746G>TCA346948149PEX13c.808G>T (p.Gly270Cys)
c.691G>T (p.Gly231Cys)
2g.61045747G>ACA346948157PEX13c.809G>A (p.Gly270Asp)
c.692G>A (p.Gly231Asp)
2g.61045747G>CCA346948165PEX13c.809G>C (p.Gly270Ala)
c.692G>C (p.Gly231Ala)
2g.61045747G>TCA346948160PEX13c.809G>T (p.Gly270Val)
c.692G>T (p.Gly231Val)
2g.61045748T>ACA426187294PEX13c.810T>A (p.Gly270=)
c.693T>A (p.Gly231=)
2g.61045748T>CCA426187296PEX13c.810T>C (p.Gly270=)
c.693T>C (p.Gly231=)
2g.61045748T>GCA426187298PEX13c.810T>G (p.Gly270=)
c.693T>G (p.Gly231=)
2g.61045749G>ACA346948166PEX13c.811G>A (p.Glu271Lys)
c.694G>A (p.Glu232Lys)
2g.61045749G>CCA346948175PEX13c.811G>C (p.Glu271Gln)
c.694G>C (p.Glu232Gln)
2g.61045749G>TCA346948180PEX13c.811G>T (p.Glu271Ter)
c.694G>T (p.Glu232Ter)
2g.61045750A>CCA346948183PEX13c.812A>C (p.Glu271Ala)
c.695A>C (p.Glu232Ala)
 gnomAD v4
2g.61045750A>GCA346948188PEX13c.812A>G (p.Glu271Gly)
c.695A>G (p.Glu232Gly)
2g.61045750A>TCA346948191PEX13c.812A>T (p.Glu271Val)
c.695A>T (p.Glu232Val)
2g.61045751G>ACA426187310PEX13c.813G>A (p.Glu271=)
c.696G>A (p.Glu232=)
2g.61045751G>CCA346948193PEX13c.813G>C (p.Glu271Asp)
c.696G>C (p.Glu232Asp)
2g.61045751G>TCA346948195PEX13c.813G>T (p.Glu271Asp)
c.696G>T (p.Glu232Asp)
2g.61045752G>ACA346948213PEX13c.814G>A (p.Asp272Asn)
c.697G>A (p.Asp233Asn)
2g.61045752G>CCA1673361PEX13c.814G>C (p.Asp272His)
c.697G>C (p.Asp233His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61045752G=CA1255174181PEX13c.814G= (p.Asp272=)
c.697G= (p.Asp233=)
2g.61045752G>TCA346948229PEX13c.814G>T (p.Asp272Tyr)
c.697G>T (p.Asp233Tyr)
2g.61045753A>CCA346948235PEX13c.815A>C (p.Asp272Ala)
c.698A>C (p.Asp233Ala)
2g.61045753A>GCA346948231PEX13c.815A>G (p.Asp272Gly)
c.698A>G (p.Asp233Gly)
 ClinVar dbSNP
2g.61045753A>TCA346948233PEX13c.815A>T (p.Asp272Val)
c.698A>T (p.Asp233Val)
2g.61045754T>ACA346948247PEX13c.816T>A (p.Asp272Glu)
c.699T>A (p.Asp233Glu)
2g.61045754T>CCA426187325PEX13c.816T>C (p.Asp272=)
c.699T>C (p.Asp233=)
2g.61045754T>GCA346948249PEX13c.816T>G (p.Asp272Glu)
c.699T>G (p.Asp233Glu)
2g.61045755G>ACA346948265PEX13c.817G>A (p.Asp273Asn)
c.700G>A (p.Asp234Asn)
2g.61045755G>CCA346948283PEX13c.817G>C (p.Asp273His)
c.700G>C (p.Asp234His)
2g.61045755G>TCA346948286PEX13c.817G>T (p.Asp273Tyr)
c.700G>T (p.Asp234Tyr)
 gnomAD v4
2g.61045756A>CCA346948288PEX13c.818A>C (p.Asp273Ala)
c.701A>C (p.Asp234Ala)
2g.61045756A>GCA346948290PEX13c.818A>G (p.Asp273Gly)
c.701A>G (p.Asp234Gly)
2g.61045756A>TCA346948292PEX13c.818A>T (p.Asp273Val)
c.701A>T (p.Asp234Val)
2g.61045757C>ACA346948294PEX13c.819C>A (p.Asp273Glu)
c.702C>A (p.Asp234Glu)
2g.61045757C=CA1255174183PEX13c.819C= (p.Asp273=)
c.702C= (p.Asp234=)
2g.61045757C>GCA346948296PEX13c.819C>G (p.Asp273Glu)
c.702C>G (p.Asp234Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61045757C>TCA426187335PEX13c.819C>T (p.Asp273=)
c.702C>T (p.Asp234=)
2g.61045758C>ACA346948316PEX13c.820C>A (p.His274Asn)
c.703C>A (p.His235Asn)
2g.61045758C>GCA346948319PEX13c.820C>G (p.His274Asp)
c.703C>G (p.His235Asp)
2g.61045758C>TCA346948299PEX13c.820C>T (p.His274Tyr)
c.703C>T (p.His235Tyr)
2g.61045759A>CCA346948323PEX13c.821A>C (p.His274Pro)
c.704A>C (p.His235Pro)
2g.61045759A>GCA346948333PEX13c.821A>G (p.His274Arg)
c.704A>G (p.His235Arg)
 gnomAD v4
2g.61045759A>TCA346948335PEX13c.821A>T (p.His274Leu)
c.704A>T (p.His235Leu)
2g.61045759_61045760insGAGCAGCA2576977584PEX13c.821_822insGAGCAG (p.His274delinsGlnSerSer)
c.704_705insGAGCAG (p.His235delinsGlnSerSer)
2g.61045760T>ACA346948338PEX13c.822T>A (p.His274Gln)
c.705T>A (p.His235Gln)
2g.61045760T>CCA426187346PEX13c.822T>C (p.His274=)
c.705T>C (p.His235=)
2g.61045760T>GCA346948340PEX13c.822T>G (p.His274Gln)
c.705T>G (p.His235Gln)
2g.61045761G>ACA346948346PEX13c.823G>A (p.Val275Ile)
c.706G>A (p.Val236Ile)
2g.61045761G>CCA346948343PEX13c.823G>C (p.Val275Leu)
c.706G>C (p.Val236Leu)
2g.61045761G>TCA346948342PEX13c.823G>T (p.Val275Leu)
c.706G>T (p.Val236Leu)
2g.61045762T>ACA346948349PEX13c.824T>A (p.Val275Glu)
c.707T>A (p.Val236Glu)
2g.61045762T>CCA346948354PEX13c.824T>C (p.Val275Ala)
c.707T>C (p.Val236Ala)
2g.61045762T>GCA346948355PEX13c.824T>G (p.Val275Gly)
c.707T>G (p.Val236Gly)
2g.61045763A=CA1255174185PEX13c.825A= (p.Val275=)
c.708A= (p.Val236=)
2g.61045763A>CCA426187358PEX13c.825A>C (p.Val275=)
c.708A>C (p.Val236=)
2g.61045763A>GCA426187363PEX13c.825A>G (p.Val275=)
c.708A>G (p.Val236=)
 dbSNP
2g.61045763A>TCA426187361PEX13c.825A>T (p.Val275=)
c.708A>T (p.Val236=)
2g.61045764G>ACA346948358PEX13c.826G>A (p.Val276Ile)
c.709G>A (p.Val237Ile)
 gnomAD v4
2g.61045764G>CCA346948360PEX13c.826G>C (p.Val276Leu)
c.709G>C (p.Val237Leu)
 gnomAD v4
2g.61045764G>TCA346948363PEX13c.826G>T (p.Val276Phe)
c.709G>T (p.Val237Phe)
2g.61045765T>ACA346948368PEX13c.827T>A (p.Val276Asp)
c.710T>A (p.Val237Asp)
2g.61045765T>CCA346948375PEX13c.827T>C (p.Val276Ala)
c.710T>C (p.Val237Ala)
2g.61045765T>GCA346948371PEX13c.827T>G (p.Val276Gly)
c.710T>G (p.Val237Gly)
2g.61045766T>ACA426187370PEX13c.828T>A (p.Val276=)
c.711T>A (p.Val237=)
2g.61045766T>CCA426187373PEX13c.828T>C (p.Val276=)
c.711T>C (p.Val237=)
 ClinVar
2g.61045766T>GCA426187375PEX13c.828T>G (p.Val276=)
c.711T>G (p.Val237=)
2g.61045767G>ACA346948380PEX13c.829G>A (p.Ala277Thr)
c.712G>A (p.Ala238Thr)
2g.61045767G>CCA346948384PEX13c.829G>C (p.Ala277Pro)
c.712G>C (p.Ala238Pro)
2g.61045767G>TCA346948387PEX13c.829G>T (p.Ala277Ser)
c.712G>T (p.Ala238Ser)
2g.61045767dupCA2573134971PEX13c.829dup (p.Ala277GlyfsTer6)
c.712dup (p.Ala238GlyfsTer6)
 ClinVar dbSNP
2g.61045768C>ACA346948389PEX13c.830C>A (p.Ala277Asp)
c.713C>A (p.Ala238Asp)
2g.61045768C>GCA346948393PEX13c.830C>G (p.Ala277Gly)
c.713C>G (p.Ala238Gly)
2g.61045768C>TCA346948396PEX13c.830C>T (p.Ala277Val)
c.713C>T (p.Ala238Val)
2g.61045769C>ACA426187390PEX13c.831C>A (p.Ala277=)
c.714C>A (p.Ala238=)
2g.61045769C=CA1255174188PEX13c.831C= (p.Ala277=)
c.714C= (p.Ala238=)
2g.61045769C>GCA426187386PEX13c.831C>G (p.Ala277=)
c.714C>G (p.Ala238=)
2g.61045769C>TCA1673362PEX13c.831C>T (p.Ala277=)
c.714C>T (p.Ala238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.61045770A>CCA426187395PEX13c.832A>C (p.Arg278=)
c.715A>C (p.Arg239=)
 ClinVar
2g.61045770A>GCA346948402PEX13c.832A>G (p.Arg278Gly)
c.715A>G (p.Arg239Gly)
 gnomAD v4
2g.61045770A>TCA346948405PEX13c.832A>T (p.Arg278Ter)
c.715A>T (p.Arg239Ter)
2g.61045771G>ACA346948409PEX13c.833G>A (p.Arg278Lys)
c.716G>A (p.Arg239Lys)
2g.61045771G>CCA346948410PEX13c.833G>C (p.Arg278Thr)
c.716G>C (p.Arg239Thr)
2g.61045771G>TCA346948413PEX13c.833G>T (p.Arg278Ile)
c.716G>T (p.Arg239Ile)
2g.61045772A=CA1255174193PEX13c.834A= (p.Arg278=)
c.717A= (p.Arg239=)
2g.61045772A>CCA346948420PEX13c.834A>C (p.Arg278Ser)
c.717A>C (p.Arg239Ser)
2g.61045772A>GCA426187403PEX13c.834A>G (p.Arg278=)
c.717A>G (p.Arg239=)
 dbSNP
2g.61045772A>TCA346948417PEX13c.834A>T (p.Arg278Ser)
c.717A>T (p.Arg239Ser)
2g.61045773G>ACA346948427PEX13c.835G>A (p.Ala279Thr)
c.718G>A (p.Ala240Thr)
 dbSNP
2g.61045773G>CCA346948435PEX13c.835G>C (p.Ala279Pro)
c.718G>C (p.Ala240Pro)
2g.61045773G=CA1255174197PEX13c.835G= (p.Ala279=)
c.718G= (p.Ala240=)
2g.61045773G>TCA346948429PEX13c.835G>T (p.Ala279Ser)
c.718G>T (p.Ala240Ser)
2g.61045774C>ACA346948439PEX13c.836C>A (p.Ala279Glu)
c.719C>A (p.Ala240Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.61045774C=CA1255174201PEX13c.836C= (p.Ala279=)
c.719C= (p.Ala240=)
2g.61045774C>GCA346948446PEX13c.836C>G (p.Ala279Gly)
c.719C>G (p.Ala240Gly)
2g.61045774C>TCA1673363PEX13c.836C>T (p.Ala279Val)
c.719C>T (p.Ala240Val)
 dbSNP ExAC gnomAD v2
2g.61045775A>CCA426187419PEX13c.837A>C (p.Ala279=)
c.720A>C (p.Ala240=)
2g.61045775A>GCA426187414PEX13c.837A>G (p.Ala279=)
c.720A>G (p.Ala240=)
2g.61045775A>TCA426187417PEX13c.837A>T (p.Ala279=)
c.720A>T (p.Ala240=)
2g.61045776G>ACA346948462PEX13c.838G>A (p.Glu280Lys)
c.721G>A (p.Glu241Lys)
 gnomAD v4
2g.61045776G>CCA346948469PEX13c.838G>C (p.Glu280Gln)
c.721G>C (p.Glu241Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.61045776G=CA1255174206PEX13c.838G= (p.Glu280=)
c.721G= (p.Glu241=)
2g.61045776G>TCA346948466PEX13c.838G>T (p.Glu280Ter)
c.721G>T (p.Glu241Ter)
 gnomAD v4
2g.61045777A=CA1255174209PEX13c.839A= (p.Glu280=)
c.722A= (p.Glu241=)
2g.61045777A>CCA346948476PEX13c.839A>C (p.Glu280Ala)
c.722A>C (p.Glu241Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.61045777A>GCA346948483PEX13c.839A>G (p.Glu280Gly)
c.722A>G (p.Glu241Gly)
 gnomAD v4
2g.61045777A>TCA346948481PEX13c.839A>T (p.Glu280Val)
c.722A>T (p.Glu241Val)
2g.61045778A>CCA346948487PEX13c.840A>C (p.Glu280Asp)
c.723A>C (p.Glu241Asp)
2g.61045778A>GCA426187428PEX13c.840A>G (p.Glu280=)
c.723A>G (p.Glu241=)
2g.61045778A>TCA346948490PEX13c.840A>T (p.Glu280Asp)
c.723A>T (p.Glu241Asp)
2g.61045779T>ACA346948493PEX13c.841T>A (p.Tyr281Asn)
c.724T>A (p.Tyr242Asn)
2g.61045779T>CCA346948495PEX13c.841T>C (p.Tyr281His)
c.724T>C (p.Tyr242His)
2g.61045779T>GCA346948497PEX13c.841T>G (p.Tyr281Asp)
c.724T>G (p.Tyr242Asp)
2g.61045779_61045780insCCA2659190774PEX13c.841_842insC (p.Tyr281SerfsTer2)
c.724_725insC (p.Tyr242SerfsTer2)
 gnomAD v4
2g.61045780A>CCA346948498PEX13c.842A>C (p.Tyr281Ser)
c.725A>C (p.Tyr242Ser)
2g.61045780A>GCA346948499PEX13c.842A>G (p.Tyr281Cys)
c.725A>G (p.Tyr242Cys)
2g.61045780A>TCA346948500PEX13c.842A>T (p.Tyr281Phe)
c.725A>T (p.Tyr242Phe)
2g.61045781delCA2659190775PEX13c.843del (p.Tyr281Ter)
c.726del (p.Tyr242Ter)
 gnomAD v4
2g.61045781T>ACA346948502PEX13c.843T>A (p.Tyr281Ter)
c.726T>A (p.Tyr242Ter)
2g.61045781T>CCA426187441PEX13c.843T>C (p.Tyr281=)
c.726T>C (p.Tyr242=)
 gnomAD v4
2g.61045781T>GCA346948504PEX13c.843T>G (p.Tyr281Ter)
c.726T>G (p.Tyr242Ter)
2g.61045782delCA2659190776PEX13c.844del (p.Asp282IlefsTer18)
c.727del (p.Asp243IlefsTer18)
 gnomAD v4
2g.61045782G>ACA346948506PEX13c.844G>A (p.Asp282Asn)
c.727G>A (p.Asp243Asn)
2g.61045782G>CCA346948507PEX13c.844G>C (p.Asp282His)
c.727G>C (p.Asp243His)
2g.61045782G>TCA346948508PEX13c.844G>T (p.Asp282Tyr)
c.727G>T (p.Asp243Tyr)
 gnomAD v4
2g.61045782_61045783delinsGACA1255174216PEX13c.844_845delinsGA (p.Asp282=)
c.727_728delinsGA (p.Asp243=)
2g.61045783delCA916548417PEX13c.845del (p.Asp282ValfsTer18)
c.728del (p.Asp243ValfsTer18)
 dbSNP
2g.61045783A=CA1255174228PEX13c.845A= (p.Asp282=)
c.728A= (p.Asp243=)
2g.61045783A>CCA346948510PEX13c.845A>C (p.Asp282Ala)
c.728A>C (p.Asp243Ala)
2g.61045783A>GCA346948515PEX13c.845A>G (p.Asp282Gly)
c.728A>G (p.Asp243Gly)
 ClinVar dbSNP gnomAD v4
2g.61045783A>TCA346948512PEX13c.845A>T (p.Asp282Val)
c.728A>T (p.Asp243Val)
 dbSNP
2g.61045784T>ACA346948517PEX13c.846T>A (p.Asp282Glu)
c.729T>A (p.Asp243Glu)
2g.61045784T>CCA426187454PEX13c.846T>C (p.Asp282=)
c.729T>C (p.Asp243=)
2g.61045784T>GCA1673364PEX13c.846T>G (p.Asp282Glu)
c.729T>G (p.Asp243Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61045784T=CA1255174234PEX13c.846T= (p.Asp282=)
c.729T= (p.Asp243=)
2g.61045785T>ACA346948521PEX13c.847T>A (p.Phe283Ile)
c.730T>A (p.Phe244Ile)
2g.61045785T>CCA346948530PEX13c.847T>C (p.Phe283Leu)
c.730T>C (p.Phe244Leu)
 gnomAD v4
2g.61045785T>GCA346948533PEX13c.847T>G (p.Phe283Val)
c.730T>G (p.Phe244Val)
 ClinVar dbSNP gnomAD v4
2g.61045785T=CA1255174236PEX13c.847T= (p.Phe283=)
c.730T= (p.Phe244=)
2g.61045786T>ACA346948534PEX13c.848T>A (p.Phe283Tyr)
c.731T>A (p.Phe244Tyr)
2g.61045786T>CCA48353815PEX13c.848T>C (p.Phe283Ser)
c.731T>C (p.Phe244Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61045786T>GCA346948537PEX13c.848T>G (p.Phe283Cys)
c.731T>G (p.Phe244Cys)
2g.61045786T=CA1255174238PEX13c.848T= (p.Phe283=)
c.731T= (p.Phe244=)
2g.61045787T>ACA346948539PEX13c.849T>A (p.Phe283Leu)
c.732T>A (p.Phe244Leu)
2g.61045787T>CCA426187460PEX13c.849T>C (p.Phe283=)
c.732T>C (p.Phe244=)
2g.61045787T>GCA346948542PEX13c.849T>G (p.Phe283Leu)
c.732T>G (p.Phe244Leu)
2g.61045788G>ACA48353821PEX13c.850G>A (p.Ala284Thr)
c.733G>A (p.Ala245Thr)
 dbSNP
2g.61045788G>CCA1673365PEX13c.850G>C (p.Ala284Pro)
c.733G>C (p.Ala245Pro)
 dbSNP ExAC gnomAD v2
2g.61045788G=CA1255174243PEX13c.850G= (p.Ala284=)
c.733G= (p.Ala245=)
2g.61045788G>TCA346948549PEX13c.850G>T (p.Ala284Ser)
c.733G>T (p.Ala245Ser)
2g.61045789C>ACA346948566PEX13c.851C>A (p.Ala284Asp)
c.734C>A (p.Ala245Asp)
2g.61045789C>GCA346948558PEX13c.851C>G (p.Ala284Gly)
c.734C>G (p.Ala245Gly)
2g.61045789C>TCA346948561PEX13c.851C>T (p.Ala284Val)
c.734C>T (p.Ala245Val)
2g.61045789dupCA916548418PEX13c.851dup (p.Ala285CysfsTer4)
c.734dup (p.Ala246CysfsTer4)
 dbSNP
2g.61045790T>ACA426187471PEX13c.852T>A (p.Ala284=)
c.735T>A (p.Ala245=)
2g.61045790T>CCA426187472PEX13c.852T>C (p.Ala284=)
c.735T>C (p.Ala245=)
2g.61045790T>GCA426187474PEX13c.852T>G (p.Ala284=)
c.735T>G (p.Ala245=)
2g.61045791G>ACA346948569PEX13c.853G>A (p.Ala285Thr)
c.736G>A (p.Ala246Thr)
2g.61045791G>CCA346948573PEX13c.853G>C (p.Ala285Pro)
c.736G>C (p.Ala246Pro)
 ClinVar dbSNP
2g.61045791G>TCA346948575PEX13c.853G>T (p.Ala285Ser)
c.736G>T (p.Ala246Ser)
 COSMIC
2g.61045792C>ACA346948581PEX13c.854C>A (p.Ala285Asp)
c.737C>A (p.Ala246Asp)
 gnomAD v4
2g.61045792C>GCA346948580PEX13c.854C>G (p.Ala285Gly)
c.737C>G (p.Ala246Gly)
2g.61045792C>TCA346948579PEX13c.854C>T (p.Ala285Val)
c.737C>T (p.Ala246Val)
 COSMIC
2g.61045793delCA2697548191PEX13c.855del (p.Val286TyrfsTer14)
c.738del (p.Val247TyrfsTer14)
 ClinVar
2g.61045793C>ACA426187485PEX13c.855C>A (p.Ala285=)
c.738C>A (p.Ala246=)
2g.61045793C=CA1255174252PEX13c.855C= (p.Ala285=)
c.738C= (p.Ala246=)
2g.61045793C>GCA426187487PEX13c.855C>G (p.Ala285=)
c.738C>G (p.Ala246=)
2g.61045793C>TCA426187489PEX13c.855C>T (p.Ala285=)
c.738C>T (p.Ala246=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.61045794G>ACA1673366PEX13c.856G>A (p.Val286Ile)
c.739G>A (p.Val247Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.61045794G>CCA346948584PEX13c.856G>C (p.Val286Leu)
c.739G>C (p.Val247Leu)
2g.61045794G=CA1255174257PEX13c.856G= (p.Val286=)
c.739G= (p.Val247=)
2g.61045794G>TCA346948587PEX13c.856G>T (p.Val286Leu)
c.739G>T (p.Val247Leu)
2g.61045795T>ACA346948593PEX13c.857T>A (p.Val286Glu)
c.740T>A (p.Val247Glu)
2g.61045795T>CCA346948596PEX13c.857T>C (p.Val286Ala)
c.740T>C (p.Val247Ala)
2g.61045795T>GCA346948604PEX13c.857T>G (p.Val286Gly)
c.740T>G (p.Val247Gly)
2g.61045795dupCA2659190777PEX13c.857dup (p.Ser287IlefsTer2)
c.740dup (p.Ser248IlefsTer2)
 gnomAD v4
2g.61045796A>CCA426187498PEX13c.858A>C (p.Val286=)
c.741A>C (p.Val247=)
2g.61045796A>GCA426187502PEX13c.858A>G (p.Val286=)
c.741A>G (p.Val247=)
 gnomAD v4
2g.61045796A>TCA426187500PEX13c.858A>T (p.Val286=)
c.741A>T (p.Val247=)
2g.61045797T>ACA346948607PEX13c.859T>A (p.Ser287Thr)
c.742T>A (p.Ser248Thr)
2g.61045797T>CCA48353845PEX13c.859T>C (p.Ser287Pro)
c.742T>C (p.Ser248Pro)
 dbSNP
2g.61045797T>GCA346948610PEX13c.859T>G (p.Ser287Ala)
c.742T>G (p.Ser248Ala)
2g.61045797T=CA1255174264PEX13c.859T= (p.Ser287=)
c.742T= (p.Ser248=)
2g.61045798C>ACA346948632PEX13c.860C>A (p.Ser287Tyr)
c.743C>A (p.Ser248Tyr)
2g.61045798C>GCA346948641PEX13c.860C>G (p.Ser287Cys)
c.743C>G (p.Ser248Cys)
2g.61045798C>TCA346948644PEX13c.860C>T (p.Ser287Phe)
c.743C>T (p.Ser248Phe)
2g.61045799T>ACA426187511PEX13c.861T>A (p.Ser287=)
c.744T>A (p.Ser248=)
2g.61045799T>CCA426187512PEX13c.861T>C (p.Ser287=)
c.744T>C (p.Ser248=)
2g.61045799T>GCA426187514PEX13c.861T>G (p.Ser287=)
c.744T>G (p.Ser248=)
2g.61045800G>ACA346948649PEX13c.862G>A (p.Glu288Lys)
c.745G>A (p.Glu249Lys)
2g.61045800G>CCA346948652PEX13c.862G>C (p.Glu288Gln)
c.745G>C (p.Glu249Gln)
2g.61045800G>TCA346948654PEX13c.862G>T (p.Glu288Ter)
c.745G>T (p.Glu249Ter)
2g.61045801A>CCA346948656PEX13c.863A>C (p.Glu288Ala)
c.746A>C (p.Glu249Ala)
2g.61045801A>GCA346948657PEX13c.863A>G (p.Glu288Gly)
c.746A>G (p.Glu249Gly)
2g.61045801A>TCA346948661PEX13c.863A>T (p.Glu288Val)
c.746A>T (p.Glu249Val)
2g.61045802delCA2659190778PEX13c.864del (p.Glu289LysfsTer11)
c.747del (p.Glu250LysfsTer11)
 gnomAD v4
2g.61045802A=CA1255174269PEX13c.864A= (p.Glu288=)
c.747A= (p.Glu249=)
2g.61045802A>CCA346948664PEX13c.864A>C (p.Glu288Asp)
c.747A>C (p.Glu249Asp)
2g.61045802A>GCA426187526PEX13c.864A>G (p.Glu288=)
c.747A>G (p.Glu249=)
 dbSNP
2g.61045802A>TCA346948665PEX13c.864A>T (p.Glu288Asp)
c.747A>T (p.Glu249Asp)
2g.61045803G>ACA346948675PEX13c.865G>A (p.Glu289Lys)
c.748G>A (p.Glu250Lys)
2g.61045803G>CCA346948673PEX13c.865G>C (p.Glu289Gln)
c.748G>C (p.Glu250Gln)
2g.61045803G>TCA346948668PEX13c.865G>T (p.Glu289Ter)
c.748G>T (p.Glu250Ter)
2g.61045804A>CCA346948677PEX13c.866A>C (p.Glu289Ala)
c.749A>C (p.Glu250Ala)
2g.61045804A>GCA346948679PEX13c.866A>G (p.Glu289Gly)
c.749A>G (p.Glu250Gly)
2g.61045804A>TCA346948680PEX13c.866A>T (p.Glu289Val)
c.749A>T (p.Glu250Val)
2g.61045805A=CA1255174273PEX13c.867A= (p.Glu289=)
c.750A= (p.Glu250=)
2g.61045805A>CCA346948681PEX13c.867A>C (p.Glu289Asp)
c.750A>C (p.Glu250Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61045805A>GCA426187538PEX13c.867A>G (p.Glu289=)
c.750A>G (p.Glu250=)
2g.61045805A>TCA346948683PEX13c.867A>T (p.Glu289Asp)
c.750A>T (p.Glu250Asp)
2g.61045806G>ACA346948687PEX13c.868G>A (p.Glu290Lys)
c.751G>A (p.Glu251Lys)
2g.61045806G>CCA346948689PEX13c.868G>C (p.Glu290Gln)
c.751G>C (p.Glu251Gln)
2g.61045806G>TCA346948692PEX13c.868G>T (p.Glu290Ter)
c.751G>T (p.Glu251Ter)
 gnomAD v4
2g.61045807A>CCA346948694PEX13c.869A>C (p.Glu290Ala)
c.752A>C (p.Glu251Ala)
2g.61045807A>GCA346948697PEX13c.869A>G (p.Glu290Gly)
c.752A>G (p.Glu251Gly)
2g.61045807A>TCA346948698PEX13c.869A>T (p.Glu290Val)
c.752A>T (p.Glu251Val)
 COSMIC
2g.61045809delCA2739274482PEX13c.871del (p.Ile291PhefsTer9)
c.754del (p.Ile252PhefsTer9)
 ClinVar
2g.61045808A>CCA346948700PEX13c.870A>C (p.Glu290Asp)
c.753A>C (p.Glu251Asp)
2g.61045808A>GCA426187548PEX13c.870A>G (p.Glu290=)
c.753A>G (p.Glu251=)
2g.61045808A>TCA346948701PEX13c.870A>T (p.Glu290Asp)
c.753A>T (p.Glu251Asp)
2g.61045809A=CA1255174278PEX13c.871A= (p.Ile291=)
c.754A= (p.Ile252=)
2g.61045809A>CCA346948709PEX13c.871A>C (p.Ile291Leu)
c.754A>C (p.Ile252Leu)
2g.61045809A>GCA346948707PEX13c.871A>G (p.Ile291Val)
c.754A>G (p.Ile252Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.61045809A>TCA346948704PEX13c.871A>T (p.Ile291Phe)
c.754A>T (p.Ile252Phe)
2g.61045810T>ACA346948711PEX13c.872T>A (p.Ile291Asn)
c.755T>A (p.Ile252Asn)
2g.61045810T>CCA346948712PEX13c.872T>C (p.Ile291Thr)
c.755T>C (p.Ile252Thr)
 ClinVar dbSNP
2g.61045810T>GCA346948715PEX13c.872T>G (p.Ile291Ser)
c.755T>G (p.Ile252Ser)
2g.61045810T=CA1255174283PEX13c.872T= (p.Ile291=)
c.755T= (p.Ile252=)
2g.61045811T>ACA426187556PEX13c.873T>A (p.Ile291=)
c.756T>A (p.Ile252=)
2g.61045811T>CCA426187557PEX13c.873T>C (p.Ile291=)
c.756T>C (p.Ile252=)
2g.61045811T>GCA346948716PEX13c.873T>G (p.Ile291Met)
c.756T>G (p.Ile252Met)
2g.61045812T>ACA346948717PEX13c.874T>A (p.Ser292Thr)
c.757T>A (p.Ser253Thr)
2g.61045812T>CCA346948719PEX13c.874T>C (p.Ser292Pro)
c.757T>C (p.Ser253Pro)
2g.61045812T>GCA346948720PEX13c.874T>G (p.Ser292Ala)
c.757T>G (p.Ser253Ala)
2g.61045813C>ACA346948722PEX13c.875C>A (p.Ser292Tyr)
c.758C>A (p.Ser253Tyr)
 gnomAD v4
2g.61045813C>GCA346948725PEX13c.875C>G (p.Ser292Cys)
c.758C>G (p.Ser253Cys)
2g.61045813C>TCA346948728PEX13c.875C>T (p.Ser292Phe)
c.758C>T (p.Ser253Phe)
 gnomAD v4
2g.61045814T>ACA426187567PEX13c.876T>A (p.Ser292=)
c.759T>A (p.Ser253=)
2g.61045814T>CCA426187569PEX13c.876T>C (p.Ser292=)
c.759T>C (p.Ser253=)
2g.61045814T>GCA426187570PEX13c.876T>G (p.Ser292=)
c.759T>G (p.Ser253=)
2g.61045815T>ACA346948730PEX13c.877T>A (p.Phe293Ile)
c.760T>A (p.Phe254Ile)
2g.61045815T>CCA346948731PEX13c.877T>C (p.Phe293Leu)
c.760T>C (p.Phe254Leu)
2g.61045815T>GCA346948734PEX13c.877T>G (p.Phe293Val)
c.760T>G (p.Phe254Val)
2g.61045816T>ACA346948742PEX13c.878T>A (p.Phe293Tyr)
c.761T>A (p.Phe254Tyr)
2g.61045816T>CCA346948739PEX13c.878T>C (p.Phe293Ser)
c.761T>C (p.Phe254Ser)
2g.61045816T>GCA346948737PEX13c.878T>G (p.Phe293Cys)
c.761T>G (p.Phe254Cys)
2g.61045817C>ACA346948744PEX13c.879C>A (p.Phe293Leu)
c.762C>A (p.Phe254Leu)
2g.61045817C=CA1255174286PEX13c.879C= (p.Phe293=)
c.762C= (p.Phe254=)
2g.61045817C>GCA346948747PEX13c.879C>G (p.Phe293Leu)
c.762C>G (p.Phe254Leu)
 dbSNP
2g.61045817C>TCA1673367PEX13c.879C>T (p.Phe293=)
c.762C>T (p.Phe254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.61045818C>ACA426187583PEX13c.880C>A (p.Arg294=)
c.763C>A (p.Arg255=)
2g.61045818C=CA1255174291PEX13c.880C= (p.Arg294=)
c.763C= (p.Arg255=)
2g.61045818C>GCA346948751PEX13c.880C>G (p.Arg294Gly)
c.763C>G (p.Arg255Gly)
2g.61045818C>TCA1673368PEX13c.880C>T (p.Arg294Trp)
c.763C>T (p.Arg255Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61045819G>ACA1673369PEX13c.881G>A (p.Arg294Gln)
c.764G>A (p.Arg255Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.61045819G>CCA346948758PEX13c.881G>C (p.Arg294Pro)
c.764G>C (p.Arg255Pro)
 gnomAD v4
2g.61045819G=CA1255174296PEX13c.881G= (p.Arg294=)
c.764G= (p.Arg255=)
2g.61045819G>TCA346948756PEX13c.881G>T (p.Arg294Leu)
c.764G>T (p.Arg255Leu)
 gnomAD v4
2g.61045821delCA2659190779PEX13c.883del (p.Ala295LeufsTer5)
c.766del (p.Ala256LeufsTer5)
 gnomAD v4
2g.61045820G>ACA426187591PEX13c.882G>A (p.Arg294=)
c.765G>A (p.Arg255=)
 gnomAD v4
2g.61045820G>CCA426187593PEX13c.882G>C (p.Arg294=)
c.765G>C (p.Arg255=)
2g.61045820G=CA1255174304PEX13c.882G= (p.Arg294=)
c.765G= (p.Arg255=)
2g.61045820G>TCA426187594PEX13c.882G>T (p.Arg294=)
c.765G>T (p.Arg255=)
 dbSNP gnomAD v4
2g.61045821G>ACA346948761PEX13c.883G>A (p.Ala295Thr)
c.766G>A (p.Ala256Thr)
 dbSNP gnomAD v4
2g.61045821G>CCA346948763PEX13c.883G>C (p.Ala295Pro)
c.766G>C (p.Ala256Pro)
2g.61045821G=CA1255174307PEX13c.883G= (p.Ala295=)
c.766G= (p.Ala256=)
2g.61045821G>TCA1673370PEX13c.883G>T (p.Ala295Ser)
c.766G>T (p.Ala256Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.61045822C>ACA346948766PEX13c.884C>A (p.Ala295Asp)
c.767C>A (p.Ala256Asp)
2g.61045822C>GCA346948768PEX13c.884C>G (p.Ala295Gly)
c.767C>G (p.Ala256Gly)
2g.61045822C>TCA346948770PEX13c.884C>T (p.Ala295Val)
c.767C>T (p.Ala256Val)
2g.61045823T>ACA426187604PEX13c.885T>A (p.Ala295=)
c.768T>A (p.Ala256=)
2g.61045823T>CCA426187606PEX13c.885T>C (p.Ala295=)
c.768T>C (p.Ala256=)
2g.61045823T>GCA426187609PEX13c.885T>G (p.Ala295=)
c.768T>G (p.Ala256=)
2g.61045824G>ACA346948773PEX13c.886G>A (p.Gly296Ser)
c.769G>A (p.Gly257Ser)
 gnomAD v4
2g.61045824G>CCA346948777PEX13c.886G>C (p.Gly296Arg)
c.769G>C (p.Gly257Arg)
2g.61045824G>TCA346948775PEX13c.886G>T (p.Gly296Cys)
c.769G>T (p.Gly257Cys)
2g.61045825G>ACA346948779PEX13c.887G>A (p.Gly296Asp)
c.770G>A (p.Gly257Asp)
2g.61045825G>CCA346948782PEX13c.887G>C (p.Gly296Ala)
c.770G>C (p.Gly257Ala)
2g.61045825G>TCA346948784PEX13c.887G>T (p.Gly296Val)
c.770G>T (p.Gly257Val)
2g.61045826T>ACA426187616PEX13c.888T>A (p.Gly296=)
c.771T>A (p.Gly257=)
 gnomAD v4
2g.61045826T>CCA426187617PEX13c.888T>C (p.Gly296=)
c.771T>C (p.Gly257=)
2g.61045826T>GCA426187619PEX13c.888T>G (p.Gly296=)
c.771T>G (p.Gly257=)
2g.61045827G>ACA346948787PEX13c.889G>A (p.Asp297Asn)
c.772G>A (p.Asp258Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.61045827G>CCA346948793PEX13c.889G>C (p.Asp297His)
c.772G>C (p.Asp258His)
2g.61045827G=CA1255174311PEX13c.889G= (p.Asp297=)
c.772G= (p.Asp258=)
2g.61045827G>TCA346948796PEX13c.889G>T (p.Asp297Tyr)
c.772G>T (p.Asp258Tyr)
 gnomAD v4
2g.61045828A>CCA346948799PEX13c.890A>C (p.Asp297Ala)
c.773A>C (p.Asp258Ala)
2g.61045828A>GCA346948800PEX13c.890A>G (p.Asp297Gly)
c.773A>G (p.Asp258Gly)
2g.61045828A>TCA346948802PEX13c.890A>T (p.Asp297Val)
c.773A>T (p.Asp258Val)
2g.61045829T>ACA346948804PEX13c.891T>A (p.Asp297Glu)
c.774T>A (p.Asp258Glu)
2g.61045829T>CCA426187630PEX13c.891T>C (p.Asp297=)
c.774T>C (p.Asp258=)
2g.61045829T>GCA346948806PEX13c.891T>G (p.Asp297Glu)
c.774T>G (p.Asp258Glu)
2g.61045830A>CCA346948809PEX13c.892A>C (p.Met298Leu)
c.775A>C (p.Met259Leu)
2g.61045830A>GCA346948812PEX13c.892A>G (p.Met298Val)
c.775A>G (p.Met259Val)
2g.61045830A>TCA346948811PEX13c.892A>T (p.Met298Leu)
c.775A>T (p.Met259Leu)
 ClinVar dbSNP
2g.61045831T>ACA346948815PEX13c.893T>A (p.Met298Lys)
c.776T>A (p.Met259Lys)
2g.61045831T>CCA243275PEX13c.893T>C (p.Met298Thr)
c.776T>C (p.Met259Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61045831T>GCA346948817PEX13c.893T>G (p.Met298Arg)
c.776T>G (p.Met259Arg)
 gnomAD v4
2g.61045831T=CA1255174320PEX13c.893T= (p.Met298=)
c.776T= (p.Met259=)

Number of alleles fetched