Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.61031933_61031935delCA2659190625PEX13c.607_609del (p.Arg203del)
c.490_492del (p.Arg164del)
 gnomAD v4
2g.61031935A>CCA346944036PEX13c.609A>C (p.Arg203Ser)
c.492A>C (p.Arg164Ser)
2g.61031935A>GCA426411723PEX13c.609A>G (p.Arg203=)
c.492A>G (p.Arg164=)
2g.61031935A>TCA346944034PEX13c.609A>T (p.Arg203Ser)
c.492A>T (p.Arg164Ser)
2g.61031936G>ACA346944037PEX13c.610G>A (p.Gly204Ser)
c.493G>A (p.Gly165Ser)
 ClinVar dbSNP
2g.61031936G>CCA346944039PEX13c.610G>C (p.Gly204Arg)
c.493G>C (p.Gly165Arg)
2g.61031936G>TCA346944040PEX13c.610G>T (p.Gly204Cys)
c.493G>T (p.Gly165Cys)
2g.61031937G>ACA1673324PEX13c.611G>A (p.Gly204Asp)
c.494G>A (p.Gly165Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61031937G>CCA346944043PEX13c.611G>C (p.Gly204Ala)
c.494G>C (p.Gly165Ala)
 ClinVar gnomAD v4
2g.61031937G=CA1255168184PEX13c.611G= (p.Gly204=)
c.494G= (p.Gly165=)
2g.61031937G>TCA346944045PEX13c.611G>T (p.Gly204Val)
c.494G>T (p.Gly165Val)
2g.61031938C>ACA426411726PEX13c.612C>A (p.Gly204=)
c.495C>A (p.Gly165=)
2g.61031938C>GCA426411727PEX13c.612C>G (p.Gly204=)
c.495C>G (p.Gly165=)
2g.61031938C>TCA426411728PEX13c.612C>T (p.Gly204=)
c.495C>T (p.Gly165=)
 ClinVar dbSNP
2g.61031939T>ACA346944047PEX13c.613T>A (p.Ser205Thr)
c.496T>A (p.Ser166Thr)
2g.61031939T>CCA346944049PEX13c.613T>C (p.Ser205Pro)
c.496T>C (p.Ser166Pro)
2g.61031939T>GCA346944050PEX13c.613T>G (p.Ser205Ala)
c.496T>G (p.Ser166Ala)
2g.61031940C>ACA346944051PEX13c.614C>A (p.Ser205Tyr)
c.497C>A (p.Ser166Tyr)
2g.61031940C>GCA346944053PEX13c.614C>G (p.Ser205Cys)
c.497C>G (p.Ser166Cys)
2g.61031940C>TCA346944054PEX13c.614C>T (p.Ser205Phe)
c.497C>T (p.Ser166Phe)
2g.61031941T>ACA426411731PEX13c.615T>A (p.Ser205=)
c.498T>A (p.Ser166=)
2g.61031941T>CCA426411732PEX13c.615T>C (p.Ser205=)
c.498T>C (p.Ser166=)
2g.61031941T>GCA426411733PEX13c.615T>G (p.Ser205=)
c.498T>G (p.Ser166=)
2g.61031942G>ACA346944060PEX13c.616G>A (p.Glu206Lys)
c.499G>A (p.Glu167Lys)
 gnomAD v4
2g.61031942G>CCA346944058PEX13c.616G>C (p.Glu206Gln)
c.499G>C (p.Glu167Gln)
2g.61031942G>TCA346944057PEX13c.616G>T (p.Glu206Ter)
c.499G>T (p.Glu167Ter)
2g.61031943A>CCA346944062PEX13c.617A>C (p.Glu206Ala)
c.500A>C (p.Glu167Ala)
2g.61031943A>GCA346944065PEX13c.617A>G (p.Glu206Gly)
c.500A>G (p.Glu167Gly)
2g.61031943A>TCA346944067PEX13c.617A>T (p.Glu206Val)
c.500A>T (p.Glu167Val)
2g.61031944G>ACA426411737PEX13c.618G>A (p.Glu206=)
c.501G>A (p.Glu167=)
 dbSNP gnomAD v3 gnomAD v4
2g.61031944G>CCA346944069PEX13c.618G>C (p.Glu206Asp)
c.501G>C (p.Glu167Asp)
 ClinVar dbSNP gnomAD v4
2g.61031944G=CA1255168185PEX13c.618G= (p.Glu206=)
c.501G= (p.Glu167=)
2g.61031944G>TCA346944071PEX13c.618G>T (p.Glu206Asp)
c.501G>T (p.Glu167Asp)
2g.61031945A>CCA346944076PEX13c.619A>C (p.Asn207His)
c.502A>C (p.Asn168His)
2g.61031945A>GCA346944074PEX13c.619A>G (p.Asn207Asp)
c.502A>G (p.Asn168Asp)
 gnomAD v4
2g.61031945A>TCA346944073PEX13c.619A>T (p.Asn207Tyr)
c.502A>T (p.Asn168Tyr)
2g.61031946A=CA1255168186PEX13c.620A= (p.Asn207=)
c.503A= (p.Asn168=)
2g.61031946A>CCA346944078PEX13c.620A>C (p.Asn207Thr)
c.503A>C (p.Asn168Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61031946A>GCA346944080PEX13c.620A>G (p.Asn207Ser)
c.503A>G (p.Asn168Ser)
2g.61031946A>TCA346944082PEX13c.620A>T (p.Asn207Ile)
c.503A>T (p.Asn168Ile)
2g.61031947T>ACA346944084PEX13c.621T>A (p.Asn207Lys)
c.504T>A (p.Asn168Lys)
2g.61031947T>CCA1673325PEX13c.621T>C (p.Asn207=)
c.504T>C (p.Asn168=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.61031947T>GCA346944087PEX13c.621T>G (p.Asn207Lys)
c.504T>G (p.Asn168Lys)
 gnomAD v4
2g.61031947T=CA1255168187PEX13c.621T= (p.Asn207=)
c.504T= (p.Asn168=)
2g.61031948G>ACA346944089PEX13c.622G>A (p.Glu208Lys)
c.505G>A (p.Glu169Lys)
2g.61031948G>CCA346944093PEX13c.622G>C (p.Glu208Gln)
c.505G>C (p.Glu169Gln)
2g.61031948G>TCA346944091PEX13c.622G>T (p.Glu208Ter)
c.505G>T (p.Glu169Ter)
2g.61031949A>CCA346944095PEX13c.623A>C (p.Glu208Ala)
c.506A>C (p.Glu169Ala)
2g.61031949A>GCA346944096PEX13c.623A>G (p.Glu208Gly)
c.506A>G (p.Glu169Gly)
2g.61031949A>TCA346944097PEX13c.623A>T (p.Glu208Val)
c.506A>T (p.Glu169Val)
2g.61031950A>CCA346944099PEX13c.624A>C (p.Glu208Asp)
c.507A>C (p.Glu169Asp)
2g.61031950A>GCA426411740PEX13c.624A>G (p.Glu208=)
c.507A>G (p.Glu169=)
 ClinVar dbSNP
2g.61031950A>TCA346944101PEX13c.624A>T (p.Glu208Asp)
c.507A>T (p.Glu169Asp)
2g.61031951G>ACA346944103PEX13c.625G>A (p.Asp209Asn)
c.508G>A (p.Asp170Asn)
2g.61031951G>CCA346944104PEX13c.625G>C (p.Asp209His)
c.508G>C (p.Asp170His)
 gnomAD v4
2g.61031951G>TCA346944105PEX13c.625G>T (p.Asp209Tyr)
c.508G>T (p.Asp170Tyr)
 ClinVar
2g.61031952A=CA1255168188PEX13c.626A= (p.Asp209=)
c.509A= (p.Asp170=)
2g.61031952A>CCA346944107PEX13c.626A>C (p.Asp209Ala)
c.509A>C (p.Asp170Ala)
 gnomAD v4
2g.61031952A>GCA346944109PEX13c.626A>G (p.Asp209Gly)
c.509A>G (p.Asp170Gly)
2g.61031952A>TCA346944111PEX13c.626A>T (p.Asp209Val)
c.509A>T (p.Asp170Val)
 dbSNP
2g.61031953C>ACA346944115PEX13c.627C>A (p.Asp209Glu)
c.510C>A (p.Asp170Glu)
2g.61031953C=CA1255168189PEX13c.627C= (p.Asp209=)
c.510C= (p.Asp170=)
2g.61031953C>GCA346944112PEX13c.627C>G (p.Asp209Glu)
c.510C>G (p.Asp170Glu)
2g.61031953C>TCA426411741PEX13c.627C>T (p.Asp209=)
c.510C>T (p.Asp170=)
 dbSNP gnomAD v2 gnomAD v4
2g.61031954C>ACA346944116PEX13c.628C>A (p.Leu210Ile)
c.511C>A (p.Leu171Ile)
2g.61031954C=CA1255168190PEX13c.628C= (p.Leu210=)
c.511C= (p.Leu171=)
2g.61031954C>GCA346944118PEX13c.628C>G (p.Leu210Val)
c.511C>G (p.Leu171Val)
 dbSNP gnomAD v2
2g.61031954C>TCA346944120PEX13c.628C>T (p.Leu210Phe)
c.511C>T (p.Leu171Phe)
 dbSNP gnomAD v4
2g.61031955T>ACA346944122PEX13c.629T>A (p.Leu210His)
c.512T>A (p.Leu171His)
2g.61031955T>CCA346944124PEX13c.629T>C (p.Leu210Pro)
c.512T>C (p.Leu171Pro)
 ClinVar gnomAD v4
2g.61031955T>GCA346944126PEX13c.629T>G (p.Leu210Arg)
c.512T>G (p.Leu171Arg)
2g.61031956C>ACA426411742PEX13c.630C>A (p.Leu210=)
c.513C>A (p.Leu171=)
2g.61031956C>GCA426411744PEX13c.630C>G (p.Leu210=)
c.513C>G (p.Leu171=)
 gnomAD v4
2g.61031956C>TCA426411746PEX13c.630C>T (p.Leu210=)
c.513C>T (p.Leu171=)
 gnomAD v4
2g.61031957T>ACA346944132PEX13c.631T>A (p.Trp211Arg)
c.514T>A (p.Trp172Arg)
2g.61031957T>CCA346944130PEX13c.631T>C (p.Trp211Arg)
c.514T>C (p.Trp172Arg)
2g.61031957T>GCA346944128PEX13c.631T>G (p.Trp211Gly)
c.514T>G (p.Trp172Gly)
2g.61031958G>ACA346944134PEX13c.632G>A (p.Trp211Ter)
c.515G>A (p.Trp172Ter)
2g.61031958G>CCA346944136PEX13c.632G>C (p.Trp211Ser)
c.515G>C (p.Trp172Ser)
2g.61031958G>TCA346944138PEX13c.632G>T (p.Trp211Leu)
c.515G>T (p.Trp172Leu)
2g.61031959G>ACA346944140PEX13c.633G>A (p.Trp211Ter)
c.516G>A (p.Trp172Ter)
 ClinVar
2g.61031959G>CCA346944142PEX13c.633G>C (p.Trp211Cys)
c.516G>C (p.Trp172Cys)
2g.61031959G>TCA346944144PEX13c.633G>T (p.Trp211Cys)
c.516G>T (p.Trp172Cys)
2g.61031960G>ACA346944146PEX13c.634G>A (p.Ala212Thr)
c.517G>A (p.Ala173Thr)
2g.61031960G>CCA346944150PEX13c.634G>C (p.Ala212Pro)
c.517G>C (p.Ala173Pro)
2g.61031960G>TCA346944148PEX13c.634G>T (p.Ala212Ser)
c.517G>T (p.Ala173Ser)
2g.61031961C>ACA346944152PEX13c.635C>A (p.Ala212Glu)
c.518C>A (p.Ala173Glu)
2g.61031961C>GCA346944155PEX13c.635C>G (p.Ala212Gly)
c.518C>G (p.Ala173Gly)
2g.61031961C>TCA346944159PEX13c.635C>T (p.Ala212Val)
c.518C>T (p.Ala173Val)
 gnomAD v4 COSMIC
2g.61031962A>CCA426411749PEX13c.636A>C (p.Ala212=)
c.519A>C (p.Ala173=)
2g.61031962A>GCA426411750PEX13c.636A>G (p.Ala212=)
c.519A>G (p.Ala173=)
2g.61031962A>TCA426411751PEX13c.636A>T (p.Ala212=)
c.519A>T (p.Ala173=)
2g.61031963G>ACA346944164PEX13c.637G>A (p.Glu213Lys)
c.520G>A (p.Glu174Lys)
2g.61031963G>CCA346944166PEX13c.637G>C (p.Glu213Gln)
c.520G>C (p.Glu174Gln)
2g.61031963G>TCA346944168PEX13c.637G>T (p.Glu213Ter)
c.520G>T (p.Glu174Ter)
2g.61031964A>CCA346944170PEX13c.638A>C (p.Glu213Ala)
c.521A>C (p.Glu174Ala)
2g.61031964A>GCA346944172PEX13c.638A>G (p.Glu213Gly)
c.521A>G (p.Glu174Gly)
2g.61031964A>TCA346944174PEX13c.638A>T (p.Glu213Val)
c.521A>T (p.Glu174Val)
2g.61031965G>ACA1673326PEX13c.639G>A (p.Glu213=)
c.522G>A (p.Glu174=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.61031965G>CCA346944177PEX13c.639G>C (p.Glu213Asp)
c.522G>C (p.Glu174Asp)
 gnomAD v4
2g.61031965G=CA1255168191PEX13c.639G= (p.Glu213=)
c.522G= (p.Glu174=)
2g.61031965G>TCA346944179PEX13c.639G>T (p.Glu213Asp)
c.522G>T (p.Glu174Asp)
2g.61031966A>CCA346944185PEX13c.640A>C (p.Ser214Arg)
c.523A>C (p.Ser175Arg)
2g.61031966A>GCA346944181PEX13c.640A>G (p.Ser214Gly)
c.523A>G (p.Ser175Gly)
 ClinVar dbSNP
2g.61031966A>TCA346944183PEX13c.640A>T (p.Ser214Cys)
c.523A>T (p.Ser175Cys)
2g.61031967G>ACA346944188PEX13c.641G>A (p.Ser214Asn)
c.524G>A (p.Ser175Asn)
 gnomAD v4
2g.61031967G>CCA346944189PEX13c.641G>C (p.Ser214Thr)
c.524G>C (p.Ser175Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.61031967G=CA1255168192PEX13c.641G= (p.Ser214=)
c.524G= (p.Ser175=)
2g.61031967G>TCA346944191PEX13c.641G>T (p.Ser214Ile)
c.524G>T (p.Ser175Ile)
2g.61031968T>ACA346944193PEX13c.642T>A (p.Ser214Arg)
c.525T>A (p.Ser175Arg)
 gnomAD v4
2g.61031968T>CCA426411756PEX13c.642T>C (p.Ser214=)
c.525T>C (p.Ser175=)
2g.61031968T>GCA1673327PEX13c.642T>G (p.Ser214Arg)
c.525T>G (p.Ser175Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61031968T=CA1255168193PEX13c.642T= (p.Ser214=)
c.525T= (p.Ser175=)
2g.61031969G>ACA346944196PEX13c.643G>A (p.Glu215Lys)
c.526G>A (p.Glu176Lys)
2g.61031969G>CCA346944198PEX13c.643G>C (p.Glu215Gln)
c.526G>C (p.Glu176Gln)
2g.61031969G>TCA346944200PEX13c.643G>T (p.Glu215Ter)
c.526G>T (p.Glu176Ter)
2g.61031970A>CCA346944202PEX13c.644A>C (p.Glu215Ala)
c.527A>C (p.Glu176Ala)
2g.61031970A>GCA346944204PEX13c.644A>G (p.Glu215Gly)
c.527A>G (p.Glu176Gly)
2g.61031970A>TCA346944206PEX13c.644A>T (p.Glu215Val)
c.527A>T (p.Glu176Val)
2g.61031971A>CCA346944208PEX13c.645A>C (p.Glu215Asp)
c.528A>C (p.Glu176Asp)
2g.61031971A>GCA426411758PEX13c.645A>G (p.Glu215=)
c.528A>G (p.Glu176=)
 gnomAD v4
2g.61031971A>TCA346944210PEX13c.645A>T (p.Glu215Asp)
c.528A>T (p.Glu176Asp)
2g.61031972G>ACA346944216PEX13c.646G>A (p.Gly216Arg)
c.529G>A (p.Gly177Arg)
2g.61031972G>CCA346944214PEX13c.646G>C (p.Gly216Arg)
c.529G>C (p.Gly177Arg)
2g.61031972G>TCA346944212PEX13c.646G>T (p.Gly216Ter)
c.529G>T (p.Gly177Ter)
 gnomAD v4
2g.61031973G>ACA346944218PEX13c.647G>A (p.Gly216Glu)
c.530G>A (p.Gly177Glu)
 dbSNP
2g.61031973G>CCA346944220PEX13c.647G>C (p.Gly216Ala)
c.530G>C (p.Gly177Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61031973G=CA1255168194PEX13c.647G= (p.Gly216=)
c.530G= (p.Gly177=)
2g.61031973G>TCA346944221PEX13c.647G>T (p.Gly216Val)
c.530G>T (p.Gly177Val)
 dbSNP gnomAD v2 gnomAD v4
2g.61031974A=CA1255168195PEX13c.648A= (p.Gly216=)
c.531A= (p.Gly177=)
2g.61031974A>CCA426411760PEX13c.648A>C (p.Gly216=)
c.531A>C (p.Gly177=)
2g.61031974A>GCA1673328PEX13c.648A>G (p.Gly216=)
c.531A>G (p.Gly177=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61031974A>TCA426411761PEX13c.648A>T (p.Gly216=)
c.531A>T (p.Gly177=)
2g.61031975A>CCA346944224PEX13c.649A>C (p.Thr217Pro)
c.532A>C (p.Thr178Pro)
2g.61031975A>GCA346944226PEX13c.649A>G (p.Thr217Ala)
c.532A>G (p.Thr178Ala)
2g.61031975A>TCA346944228PEX13c.649A>T (p.Thr217Ser)
c.532A>T (p.Thr178Ser)
2g.61031976C>ACA346944230PEX13c.650C>A (p.Thr217Asn)
c.533C>A (p.Thr178Asn)
2g.61031976C>GCA346944232PEX13c.650C>G (p.Thr217Ser)
c.533C>G (p.Thr178Ser)
2g.61031976C>TCA346944233PEX13c.650C>T (p.Thr217Ile)
c.533C>T (p.Thr178Ile)
 gnomAD v4
2g.61031977T>ACA426411763PEX13c.651T>A (p.Thr217=)
c.534T>A (p.Thr178=)
2g.61031977T>CCA426411764PEX13c.651T>C (p.Thr217=)
c.534T>C (p.Thr178=)
2g.61031977T>GCA426411765PEX13c.651T>G (p.Thr217=)
c.534T>G (p.Thr178=)
2g.61031978G>ACA346944235PEX13c.652G>A (p.Val218Met)
c.535G>A (p.Val179Met)
 gnomAD v4
2g.61031978G>CCA346944237PEX13c.652G>C (p.Val218Leu)
c.535G>C (p.Val179Leu)
2g.61031978G>TCA346944239PEX13c.652G>T (p.Val218Leu)
c.535G>T (p.Val179Leu)
2g.61031979T>ACA346944243PEX13c.653T>A (p.Val218Glu)
c.536T>A (p.Val179Glu)
2g.61031979T>CCA346944245PEX13c.653T>C (p.Val218Ala)
c.536T>C (p.Val179Ala)
2g.61031979T>GCA346944241PEX13c.653T>G (p.Val218Gly)
c.536T>G (p.Val179Gly)
 gnomAD v4
2g.61031979T=CA1255168196PEX13c.653T= (p.Val218=)
c.536T= (p.Val179=)
2g.61031979_61031980insTATACA916548293PEX13c.653_654insTATA (p.Ala219IlefsTer7)
c.536_537insTATA (p.Ala180IlefsTer7)
 dbSNP
2g.61031980G>ACA426411767PEX13c.654G>A (p.Val218=)
c.537G>A (p.Val179=)
2g.61031980G>CCA426411768PEX13c.654G>C (p.Val218=)
c.537G>C (p.Val179=)
2g.61031980G>TCA426411769PEX13c.654G>T (p.Val218=)
c.537G>T (p.Val179=)
2g.61031981G>ACA346944247PEX13c.655G>A (p.Ala219Thr)
c.538G>A (p.Ala180Thr)
 dbSNP
2g.61031981G>CCA346944250PEX13c.655G>C (p.Ala219Pro)
c.538G>C (p.Ala180Pro)
2g.61031981G=CA1255168197PEX13c.655G= (p.Ala219=)
c.538G= (p.Ala180=)
2g.61031981G>TCA346944248PEX13c.655G>T (p.Ala219Ser)
c.538G>T (p.Ala180Ser)
2g.61031982C>ACA346944253PEX13c.656C>A (p.Ala219Glu)
c.539C>A (p.Ala180Glu)
2g.61031982C=CA1255168198PEX13c.656C= (p.Ala219=)
c.539C= (p.Ala180=)
2g.61031982C>GCA346944257PEX13c.656C>G (p.Ala219Gly)
c.539C>G (p.Ala180Gly)
2g.61031982C>TCA346944254PEX13c.656C>T (p.Ala219Val)
c.539C>T (p.Ala180Val)
 dbSNP gnomAD v3 gnomAD v4
2g.61031983A>CCA426411770PEX13c.657A>C (p.Ala219=)
c.540A>C (p.Ala180=)
2g.61031983A>GCA426411771PEX13c.657A>G (p.Ala219=)
c.540A>G (p.Ala180=)
 ClinVar
2g.61031983A>TCA426411772PEX13c.657A>T (p.Ala219=)
c.540A>T (p.Ala180=)
2g.61031983_61031984insATCA2659190626PEX13c.657_658insAT (p.Cys220IlefsTer?)
c.540_541insAT (p.Cys181IlefsTer?)
 gnomAD v4
2g.61031984T>ACA346944259PEX13c.658T>A (p.Cys220Ser)
c.541T>A (p.Cys181Ser)
 gnomAD v4
2g.61031984T>CCA346944261PEX13c.658T>C (p.Cys220Arg)
c.541T>C (p.Cys181Arg)
2g.61031984T>GCA346944264PEX13c.658T>G (p.Cys220Gly)
c.541T>G (p.Cys181Gly)
2g.61031985G>ACA48342543PEX13c.659G>A (p.Cys220Tyr)
c.542G>A (p.Cys181Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.61031985G>CCA346944266PEX13c.659G>C (p.Cys220Ser)
c.542G>C (p.Cys181Ser)
 gnomAD v4
2g.61031985G=CA1255168199PEX13c.659G= (p.Cys220=)
c.542G= (p.Cys181=)
2g.61031985G>TCA346944268PEX13c.659G>T (p.Cys220Phe)
c.542G>T (p.Cys181Phe)
 gnomAD v4
2g.61031985_61031986delCA2659190627PEX13c.659_660del (p.Cys220SerfsTer4)
c.542_543del (p.Cys181SerfsTer4)
 gnomAD v4
2g.61031986C>ACA346944270PEX13c.660C>A (p.Cys220Ter)
c.543C>A (p.Cys181Ter)
2g.61031986C=CA1255168200PEX13c.660C= (p.Cys220=)
c.543C= (p.Cys181=)
2g.61031986C>GCA346944271PEX13c.660C>G (p.Cys220Trp)
c.543C>G (p.Cys181Trp)
2g.61031986C>TCA48342549PEX13c.660C>T (p.Cys220=)
c.543C>T (p.Cys181=)
 ClinVar dbSNP
2g.61031987C>ACA346944273PEX13c.661C>A (p.Leu221Ile)
c.544C>A (p.Leu182Ile)
2g.61031987C=CA1255168201PEX13c.661C= (p.Leu221=)
c.544C= (p.Leu182=)
2g.61031987C>GCA1673329PEX13c.661C>G (p.Leu221Val)
c.544C>G (p.Leu182Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61031987C>TCA346944275PEX13c.661C>T (p.Leu221Phe)
c.544C>T (p.Leu182Phe)
2g.61031987_61031989delinsCTTCA1255168202PEX13c.661_663delinsCTT (p.Leu221=)
c.544_546delinsCTT (p.Leu182=)
2g.61031988T>ACA346944278PEX13c.662T>A (p.Leu221His)
c.545T>A (p.Leu182His)
2g.61031988T>CCA346944280PEX13c.662T>C (p.Leu221Pro)
c.545T>C (p.Leu182Pro)
 dbSNP
2g.61031988T>GCA346944279PEX13c.662T>G (p.Leu221Arg)
c.545T>G (p.Leu182Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.61031988T=CA1255168203PEX13c.662T= (p.Leu221=)
c.545T= (p.Leu182=)
2g.61031988_61031989delCA1031326161PEX13c.662_663del (p.Leu221ArgfsTer3)
c.545_546del (p.Leu182ArgfsTer3)
 dbSNP gnomAD v3 gnomAD v4
2g.61031989T>ACA426411776PEX13c.663T>A (p.Leu221=)
c.546T>A (p.Leu182=)
 dbSNP
2g.61031989T>CCA426411778PEX13c.663T>C (p.Leu221=)
c.546T>C (p.Leu182=)
2g.61031989T>GCA426411779PEX13c.663T>G (p.Leu221=)
c.546T>G (p.Leu182=)
2g.61031989T=CA1255168204PEX13c.663T= (p.Leu221=)
c.546T= (p.Leu182=)
2g.61031989_61031990insCAACA1031326164PEX13c.663_664insCAA (p.Leu221_Gly222insGln)
c.546_547insCAA (p.Leu182_Gly183insGln)
 dbSNP gnomAD v3 gnomAD v4
2g.61031990G>ACA346944281PEX13c.664G>A (p.Gly222Ser)
c.547G>A (p.Gly183Ser)
 dbSNP
2g.61031990G>CCA346944282PEX13c.664G>C (p.Gly222Arg)
c.547G>C (p.Gly183Arg)
2g.61031990G=CA1255168205PEX13c.664G= (p.Gly222=)
c.547G= (p.Gly183=)
2g.61031990G>TCA346944284PEX13c.664G>T (p.Gly222Cys)
c.547G>T (p.Gly183Cys)
2g.61031991delCA2576977550PEX13c.665del (p.Gly222ValfsTer?)
c.548del (p.Gly183ValfsTer?)
2g.61031991G>ACA346944286PEX13c.665G>A (p.Gly222Asp)
c.548G>A (p.Gly183Asp)
 gnomAD v4
2g.61031991G>CCA346944293PEX13c.665G>C (p.Gly222Ala)
c.548G>C (p.Gly183Ala)
2g.61031991G=CA1255168206PEX13c.665G= (p.Gly222=)
c.548G= (p.Gly183=)
2g.61031991G>TCA346944296PEX13c.665G>T (p.Gly222Val)
c.548G>T (p.Gly183Val)
2g.61031991_61031992insCACA1031326172PEX13c.665_666insCA (p.Ala223MetfsTer?)
c.548_549insCA (p.Ala184MetfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.61031991_61031992insGCACA770851476PEX13c.665_666insGCA (p.Gly222_Ala223insHis)
c.548_549insGCA (p.Gly183_Ala184insHis)
 dbSNP
2g.61031992T>ACA426411782PEX13c.666T>A (p.Gly222=)
c.549T>A (p.Gly183=)
2g.61031992T>CCA426411783PEX13c.666T>C (p.Gly222=)
c.549T>C (p.Gly183=)
2g.61031992T>GCA426411781PEX13c.666T>G (p.Gly222=)
c.549T>G (p.Gly183=)
2g.61031993G>ACA346944298PEX13c.667G>A (p.Ala223Thr)
c.550G>A (p.Ala184Thr)
2g.61031993G>CCA346944300PEX13c.667G>C (p.Ala223Pro)
c.550G>C (p.Ala184Pro)
2g.61031993G>TCA346944301PEX13c.667G>T (p.Ala223Ser)
c.550G>T (p.Ala184Ser)
2g.61031994C>ACA346944310PEX13c.668C>A (p.Ala223Asp)
c.551C>A (p.Ala184Asp)
2g.61031994C>GCA346944304PEX13c.668C>G (p.Ala223Gly)
c.551C>G (p.Ala184Gly)
2g.61031994C>TCA346944303PEX13c.668C>T (p.Ala223Val)
c.551C>T (p.Ala184Val)
2g.61031995T>ACA426411787PEX13c.669T>A (p.Ala223=)
c.552T>A (p.Ala184=)
2g.61031995T>CCA426411786PEX13c.669T>C (p.Ala223=)
c.552T>C (p.Ala184=)
 ClinVar dbSNP gnomAD v4
2g.61031995T>GCA426411785PEX13c.669T>G (p.Ala223=)
c.552T>G (p.Ala184=)
2g.61031995T=CA1255168207PEX13c.669T= (p.Ala223=)
c.552T= (p.Ala184=)
2g.61031996G>ACA346944313PEX13c.670G>A (p.Glu224Lys)
c.553G>A (p.Glu185Lys)
2g.61031996G>CCA346944315PEX13c.670G>C (p.Glu224Gln)
c.553G>C (p.Glu185Gln)
2g.61031996G>TCA346944316PEX13c.670G>T (p.Glu224Ter)
c.553G>T (p.Glu185Ter)
2g.61031997A>CCA346944318PEX13c.671A>C (p.Glu224Ala)
c.554A>C (p.Glu185Ala)
2g.61031997A>GCA346944320PEX13c.671A>G (p.Glu224Gly)
c.554A>G (p.Glu185Gly)
 gnomAD v4
2g.61031997A>TCA346944322PEX13c.671A>T (p.Glu224Val)
c.554A>T (p.Glu185Val)
2g.61031998G>ACA426411789PEX13c.672G>A (p.Glu224=)
c.555G>A (p.Glu185=)
 ClinVar
2g.61031998G>CCA346944325PEX13c.672G>C (p.Glu224Asp)
c.555G>C (p.Glu185Asp)
2g.61031998G>TCA346944327PEX13c.672G>T (p.Glu224Asp)
c.555G>T (p.Glu185Asp)
 COSMIC
2g.61031999G>ACA346944329PEX13c.673G>A (p.Asp225Asn)
c.556G>A (p.Asp186Asn)
2g.61031999G>CCA346944331PEX13c.673G>C (p.Asp225His)
c.556G>C (p.Asp186His)
 gnomAD v4
2g.61031999G>TCA346944332PEX13c.673G>T (p.Asp225Tyr)
c.556G>T (p.Asp186Tyr)
2g.61031999_61032000insTCA2750145265PEX13c.673_674insT (p.Asp225ValfsTer?)
c.556_557insT (p.Asp186ValfsTer?)
2g.61032000A=CA1255168208PEX13c.674A= (p.Asp225=)
c.557A= (p.Asp186=)
2g.61032000A>CCA346944339PEX13c.674A>C (p.Asp225Ala)
c.557A>C (p.Asp186Ala)
2g.61032000A>GCA1673330PEX13c.674A>G (p.Asp225Gly)
c.557A>G (p.Asp186Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032000A>TCA346944335PEX13c.674A>T (p.Asp225Val)
c.557A>T (p.Asp186Val)
2g.61032000_61032001insGCTGCTCGGTCA2750145266PEX13c.674_675insGCTGCTCGGT (p.Asp225GlufsTer?)
c.557_558insGCTGCTCGGT (p.Asp186GlufsTer?)
2g.61032001C>ACA346944341PEX13c.675C>A (p.Asp225Glu)
c.558C>A (p.Asp186Glu)
2g.61032001C>GCA346944342PEX13c.675C>G (p.Asp225Glu)
c.558C>G (p.Asp186Glu)
2g.61032001C>TCA426411793PEX13c.675C>T (p.Asp225=)
c.558C>T (p.Asp186=)
2g.61032002C>ACA426411794PEX13c.676C>A (p.Arg226=)
c.559C>A (p.Arg187=)
2g.61032002C=CA1255168209PEX13c.676C= (p.Arg226=)
c.559C= (p.Arg187=)
2g.61032002C>GCA346944346PEX13c.676C>G (p.Arg226Gly)
c.559C>G (p.Arg187Gly)
2g.61032002C>TCA1673331PEX13c.676C>T (p.Arg226Ter)
c.559C>T (p.Arg187Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.61032003G>ACA1673332PEX13c.677G>A (p.Arg226Gln)
c.560G>A (p.Arg187Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.61032003G>CCA346944351PEX13c.677G>C (p.Arg226Pro)
c.560G>C (p.Arg187Pro)
2g.61032003G=CA1255168210PEX13c.677G= (p.Arg226=)
c.560G= (p.Arg187=)
2g.61032003G>TCA346944353PEX13c.677G>T (p.Arg226Leu)
c.560G>T (p.Arg187Leu)
2g.61032004A>CCA426411797PEX13c.678A>C (p.Arg226=)
c.561A>C (p.Arg187=)
2g.61032004A>GCA426411798PEX13c.678A>G (p.Arg226=)
c.561A>G (p.Arg187=)
2g.61032004A>TCA426411799PEX13c.678A>T (p.Arg226=)
c.561A>T (p.Arg187=)
 COSMIC
2g.61032005G>ACA346944356PEX13c.679G>A (p.Ala227Thr)
c.562G>A (p.Ala188Thr)
2g.61032005G>CCA346944359PEX13c.679G>C (p.Ala227Pro)
c.562G>C (p.Ala188Pro)
2g.61032005G>TCA346944363PEX13c.679G>T (p.Ala227Ser)
c.562G>T (p.Ala188Ser)
2g.61032006C>ACA346944365PEX13c.680C>A (p.Ala227Glu)
c.563C>A (p.Ala188Glu)
2g.61032006C>GCA346944368PEX13c.680C>G (p.Ala227Gly)
c.563C>G (p.Ala188Gly)
2g.61032006C>TCA346944371PEX13c.680C>T (p.Ala227Val)
c.563C>T (p.Ala188Val)
 gnomAD v4
2g.61032007A=CA1255168211PEX13c.681A= (p.Ala227=)
c.564A= (p.Ala188=)
2g.61032007A>CCA426411800PEX13c.681A>C (p.Ala227=)
c.564A>C (p.Ala188=)
2g.61032007A>GCA426411802PEX13c.681A>G (p.Ala227=)
c.564A>G (p.Ala188=)
 dbSNP gnomAD v3 gnomAD v4
2g.61032007A>TCA426411803PEX13c.681A>T (p.Ala227=)
c.564A>T (p.Ala188=)
2g.61032008G>ACA346944378PEX13c.682G>A (p.Ala228Thr)
c.565G>A (p.Ala189Thr)
2g.61032008G>CCA346944380PEX13c.682G>C (p.Ala228Pro)
c.565G>C (p.Ala189Pro)
2g.61032008G>TCA346944375PEX13c.682G>T (p.Ala228Ser)
c.565G>T (p.Ala189Ser)
2g.61032009C>ACA346944386PEX13c.683C>A (p.Ala228Asp)
c.566C>A (p.Ala189Asp)
2g.61032009C=CA1255168212PEX13c.683C= (p.Ala228=)
c.566C= (p.Ala189=)
2g.61032009C>GCA346944384PEX13c.683C>G (p.Ala228Gly)
c.566C>G (p.Ala189Gly)
 gnomAD v4 COSMIC
2g.61032009C>TCA1673333PEX13c.683C>T (p.Ala228Val)
c.566C>T (p.Ala189Val)
 dbSNP ExAC gnomAD v2
2g.61032010T>ACA426411805PEX13c.684T>A (p.Ala228=)
c.567T>A (p.Ala189=)
2g.61032010T>CCA426411806PEX13c.684T>C (p.Ala228=)
c.567T>C (p.Ala189=)
 gnomAD v4
2g.61032010T>GCA426411807PEX13c.684T>G (p.Ala228=)
c.567T>G (p.Ala189=)
 ClinVar dbSNP
2g.61032011A=CA1255168213PEX13c.685A= (p.Thr229=)
c.568A= (p.Thr190=)
2g.61032011A>CCA1673334PEX13c.685A>C (p.Thr229Pro)
c.568A>C (p.Thr190Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032011A>GCA346944387PEX13c.685A>G (p.Thr229Ala)
c.568A>G (p.Thr190Ala)
2g.61032011A>TCA346944389PEX13c.685A>T (p.Thr229Ser)
c.568A>T (p.Thr190Ser)
2g.61032012C>ACA346944396PEX13c.686C>A (p.Thr229Asn)
c.569C>A (p.Thr190Asn)
2g.61032012C>GCA346944394PEX13c.686C>G (p.Thr229Ser)
c.569C>G (p.Thr190Ser)
2g.61032012C>TCA346944391PEX13c.686C>T (p.Thr229Ile)
c.569C>T (p.Thr190Ile)
 gnomAD v4
2g.61032013C>ACA426411808PEX13c.687C>A (p.Thr229=)
c.570C>A (p.Thr190=)
2g.61032013C=CA1255168214PEX13c.687C= (p.Thr229=)
c.570C= (p.Thr190=)
2g.61032013C>GCA426411811PEX13c.687C>G (p.Thr229=)
c.570C>G (p.Thr190=)
 dbSNP
2g.61032013C>TCA426411809PEX13c.687C>T (p.Thr229=)
c.570C>T (p.Thr190=)
2g.61032014T>ACA346944400PEX13c.688T>A (p.Ser230Thr)
c.571T>A (p.Ser191Thr)
2g.61032014T>CCA346944404PEX13c.688T>C (p.Ser230Pro)
c.571T>C (p.Ser191Pro)
2g.61032014T>GCA346944407PEX13c.688T>G (p.Ser230Ala)
c.571T>G (p.Ser191Ala)
2g.61032015C>ACA346944410PEX13c.689C>A (p.Ser230Ter)
c.572C>A (p.Ser191Ter)
2g.61032015C>GCA346944412PEX13c.689C>G (p.Ser230Ter)
c.572C>G (p.Ser191Ter)
2g.61032015C>TCA346944415PEX13c.689C>T (p.Ser230Leu)
c.572C>T (p.Ser191Leu)
2g.61032016A>CCA426411812PEX13c.690A>C (p.Ser230=)
c.573A>C (p.Ser191=)
2g.61032016A>GCA426411813PEX13c.690A>G (p.Ser230=)
c.573A>G (p.Ser191=)
 gnomAD v4
2g.61032016A>TCA426411814PEX13c.690A>T (p.Ser230=)
c.573A>T (p.Ser191=)
2g.61032017G>ACA346944416PEX13c.691G>A (p.Ala231Thr)
c.574G>A (p.Ala192Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032017G>CCA346944418PEX13c.691G>C (p.Ala231Pro)
c.574G>C (p.Ala192Pro)
2g.61032017G=CA1255168215PEX13c.691G= (p.Ala231=)
c.574G= (p.Ala192=)
2g.61032017G>TCA346944417PEX13c.691G>T (p.Ala231Ser)
c.574G>T (p.Ala192Ser)
2g.61032018C>ACA346944419PEX13c.692C>A (p.Ala231Glu)
c.575C>A (p.Ala192Glu)
2g.61032018C>GCA346944421PEX13c.692C>G (p.Ala231Gly)
c.575C>G (p.Ala192Gly)
2g.61032018C>TCA346944424PEX13c.692C>T (p.Ala231Val)
c.575C>T (p.Ala192Val)
2g.61032019A>CCA426411817PEX13c.693A>C (p.Ala231=)
c.576A>C (p.Ala192=)
2g.61032019A>GCA426411819PEX13c.693A>G (p.Ala231=)
c.576A>G (p.Ala192=)
2g.61032019A>TCA426411820PEX13c.693A>T (p.Ala231=)
c.576A>T (p.Ala192=)
2g.61032020A>CCA346944425PEX13c.694A>C (p.Lys232Gln)
c.577A>C (p.Lys193Gln)
 COSMIC
2g.61032020A>GCA346944427PEX13c.694A>G (p.Lys232Glu)
c.577A>G (p.Lys193Glu)
2g.61032020A>TCA346944434PEX13c.694A>T (p.Lys232Ter)
c.577A>T (p.Lys193Ter)
2g.61032021A>CCA346944446PEX13c.695A>C (p.Lys232Thr)
c.578A>C (p.Lys193Thr)
2g.61032021A>GCA346944449PEX13c.695A>G (p.Lys232Arg)
c.578A>G (p.Lys193Arg)
2g.61032021A>TCA346944450PEX13c.695A>T (p.Lys232Ile)
c.578A>T (p.Lys193Ile)
2g.61032022A=CA1255168216PEX13c.696A= (p.Lys232=)
c.579A= (p.Lys193=)
2g.61032022A>CCA346944452PEX13c.696A>C (p.Lys232Asn)
c.579A>C (p.Lys193Asn)
 ClinVar dbSNP gnomAD v4
2g.61032022A>GCA426411822PEX13c.696A>G (p.Lys232=)
c.579A>G (p.Lys193=)
2g.61032022A>TCA346944454PEX13c.696A>T (p.Lys232Asn)
c.579A>T (p.Lys193Asn)
2g.61032023T>ACA346944466PEX13c.697T>A (p.Ser233Thr)
c.580T>A (p.Ser194Thr)
2g.61032023T>CCA1673335PEX13c.697T>C (p.Ser233Pro)
c.580T>C (p.Ser194Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.61032023T>GCA346944458PEX13c.697T>G (p.Ser233Ala)
c.580T>G (p.Ser194Ala)
2g.61032023T=CA1255168217PEX13c.697T= (p.Ser233=)
c.580T= (p.Ser194=)
2g.61032024C>ACA1673336PEX13c.698C>A (p.Ser233Tyr)
c.581C>A (p.Ser194Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032024C=CA1255168218PEX13c.698C= (p.Ser233=)
c.581C= (p.Ser194=)
2g.61032024C>GCA346944472PEX13c.698C>G (p.Ser233Cys)
c.581C>G (p.Ser194Cys)
2g.61032024C>TCA346944474PEX13c.698C>T (p.Ser233Phe)
c.581C>T (p.Ser194Phe)
2g.61032025T>ACA426411823PEX13c.699T>A (p.Ser233=)
c.582T>A (p.Ser194=)
2g.61032025T>CCA426411825PEX13c.699T>C (p.Ser233=)
c.582T>C (p.Ser194=)
2g.61032025T>GCA426411826PEX13c.699T>G (p.Ser233=)
c.582T>G (p.Ser194=)
2g.61032026T>ACA346944477PEX13c.700T>A (p.Trp234Arg)
c.583T>A (p.Trp195Arg)
2g.61032026T>CCA346944478PEX13c.700T>C (p.Trp234Arg)
c.583T>C (p.Trp195Arg)
2g.61032026T>GCA346944481PEX13c.700T>G (p.Trp234Gly)
c.583T>G (p.Trp195Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.61032026T=CA1255168219PEX13c.700T= (p.Trp234=)
c.583T= (p.Trp195=)
2g.61032027G>ACA346944494PEX13c.701G>A (p.Trp234Ter)
c.584G>A (p.Trp195Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.61032027G>CCA346944500PEX13c.701G>C (p.Trp234Ser)
c.584G>C (p.Trp195Ser)
2g.61032027G=CA1255168220PEX13c.701G= (p.Trp234=)
c.584G= (p.Trp195=)
2g.61032027G>TCA346944502PEX13c.701G>T (p.Trp234Leu)
c.584G>T (p.Trp195Leu)
2g.61032028G>ACA119009PEX13c.702G>A (p.Trp234Ter)
c.585G>A (p.Trp195Ter)
 ClinVar dbSNP
2g.61032028G>CCA346944505PEX13c.702G>C (p.Trp234Cys)
c.585G>C (p.Trp195Cys)
2g.61032028G=CA1255168221PEX13c.702G= (p.Trp234=)
c.585G= (p.Trp195=)
2g.61032028G>TCA346944508PEX13c.702G>T (p.Trp234Cys)
c.585G>T (p.Trp195Cys)
2g.61032029C>ACA346944510PEX13c.703C>A (p.Pro235Thr)
c.586C>A (p.Pro196Thr)
2g.61032029C>GCA346944511PEX13c.703C>G (p.Pro235Ala)
c.586C>G (p.Pro196Ala)
2g.61032029C>TCA346944509PEX13c.703C>T (p.Pro235Ser)
c.586C>T (p.Pro196Ser)
2g.61032030C>ACA346944512PEX13c.704C>A (p.Pro235Gln)
c.587C>A (p.Pro196Gln)
2g.61032030C>GCA346944513PEX13c.704C>G (p.Pro235Arg)
c.587C>G (p.Pro196Arg)
2g.61032030C>TCA346944514PEX13c.704C>T (p.Pro235Leu)
c.587C>T (p.Pro196Leu)
2g.61032031A=CA1255168222PEX13c.705A= (p.Pro235=)
c.588A= (p.Pro196=)
2g.61032031A>CCA426411829PEX13c.705A>C (p.Pro235=)
c.588A>C (p.Pro196=)
2g.61032031A>GCA48342593PEX13c.705A>G (p.Pro235=)
c.588A>G (p.Pro196=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032031A>TCA426411832PEX13c.705A>T (p.Pro235=)
c.588A>T (p.Pro196=)
 ClinVar
2g.61032032A=CA1255168223PEX13c.706A= (p.Ile236=)
c.589A= (p.Ile197=)
2g.61032032A>CCA346944518PEX13c.706A>C (p.Ile236Leu)
c.589A>C (p.Ile197Leu)
2g.61032032A>GCA346944522PEX13c.706A>G (p.Ile236Val)
c.589A>G (p.Ile197Val)
 ClinVar dbSNP gnomAD v4
2g.61032032A>TCA346944524PEX13c.706A>T (p.Ile236Leu)
c.589A>T (p.Ile197Leu)
2g.61032033T>ACA346944534PEX13c.707T>A (p.Ile236Lys)
c.590T>A (p.Ile197Lys)
2g.61032033T>CCA346944539PEX13c.707T>C (p.Ile236Thr)
c.590T>C (p.Ile197Thr)
2g.61032033T>GCA346944536PEX13c.707T>G (p.Ile236Arg)
c.590T>G (p.Ile197Arg)
2g.61032034A>CCA426411837PEX13c.708A>C (p.Ile236=)
c.591A>C (p.Ile197=)
2g.61032034A>GCA346944540PEX13c.708A>G (p.Ile236Met)
c.591A>G (p.Ile197Met)
 gnomAD v4
2g.61032034A>TCA426411834PEX13c.708A>T (p.Ile236=)
c.591A>T (p.Ile197=)
2g.61032035T>ACA346944542PEX13c.709T>A (p.Phe237Ile)
c.592T>A (p.Phe198Ile)
2g.61032035T>CCA346944543PEX13c.709T>C (p.Phe237Leu)
c.592T>C (p.Phe198Leu)
2g.61032035T>GCA346944545PEX13c.709T>G (p.Phe237Val)
c.592T>G (p.Phe198Val)

Number of alleles fetched