Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.61032042T>ACA346944594PEX13c.716T>A (p.Phe239Tyr)
c.599T>A (p.Phe200Tyr)
2g.61032042T>CCA1673337PEX13c.716T>C (p.Phe239Ser)
c.599T>C (p.Phe200Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.61032042T>GCA346944597PEX13c.716T>G (p.Phe239Cys)
c.599T>G (p.Phe200Cys)
2g.61032042T=CA1255168227PEX13c.716T= (p.Phe239=)
c.599T= (p.Phe200=)
2g.61032043C>ACA346944599PEX13c.717C>A (p.Phe239Leu)
c.600C>A (p.Phe200Leu)
2g.61032043C>GCA346944600PEX13c.717C>G (p.Phe239Leu)
c.600C>G (p.Phe200Leu)
 gnomAD v4
2g.61032043C>TCA426411846PEX13c.717C>T (p.Phe239=)
c.600C>T (p.Phe200=)
2g.61032044T>ACA346944602PEX13c.718T>A (p.Phe240Ile)
c.601T>A (p.Phe201Ile)
2g.61032044T>CCA346944604PEX13c.718T>C (p.Phe240Leu)
c.601T>C (p.Phe201Leu)
2g.61032044T>GCA346944606PEX13c.718T>G (p.Phe240Val)
c.601T>G (p.Phe201Val)
2g.61032045T>ACA346944607PEX13c.719T>A (p.Phe240Tyr)
c.602T>A (p.Phe201Tyr)
2g.61032045T>CCA346944608PEX13c.719T>C (p.Phe240Ser)
c.602T>C (p.Phe201Ser)
2g.61032045T>GCA346944609PEX13c.719T>G (p.Phe240Cys)
c.602T>G (p.Phe201Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032045T=CA1255168228PEX13c.719T= (p.Phe240=)
c.602T= (p.Phe201=)
2g.61032046T>ACA346944610PEX13c.720T>A (p.Phe240Leu)
c.603T>A (p.Phe201Leu)
2g.61032046T>CCA426411847PEX13c.720T>C (p.Phe240=)
c.603T>C (p.Phe201=)
2g.61032046T>GCA346944611PEX13c.720T>G (p.Phe240Leu)
c.603T>G (p.Phe201Leu)
2g.61032047G>ACA346944613PEX13c.721G>A (p.Ala241Thr)
c.604G>A (p.Ala202Thr)
2g.61032047G>CCA346944616PEX13c.721G>C (p.Ala241Pro)
c.604G>C (p.Ala202Pro)
2g.61032047G>TCA346944617PEX13c.721G>T (p.Ala241Ser)
c.604G>T (p.Ala202Ser)
 COSMIC
2g.61032048C>ACA346944618PEX13c.722C>A (p.Ala241Asp)
c.605C>A (p.Ala202Asp)
2g.61032048C>GCA346944619PEX13c.722C>G (p.Ala241Gly)
c.605C>G (p.Ala202Gly)
2g.61032048C>TCA346944620PEX13c.722C>T (p.Ala241Val)
c.605C>T (p.Ala202Val)
2g.61032049T>ACA426411848PEX13c.723T>A (p.Ala241=)
c.606T>A (p.Ala202=)
 ClinVar dbSNP
2g.61032049T>CCA426411849PEX13c.723T>C (p.Ala241=)
c.606T>C (p.Ala202=)
2g.61032049T>GCA426411850PEX13c.723T>G (p.Ala241=)
c.606T>G (p.Ala202=)
 dbSNP gnomAD v2 gnomAD v4
2g.61032049T=CA1255168229PEX13c.723T= (p.Ala241=)
c.606T= (p.Ala202=)
2g.61032050G>ACA346944623PEX13c.724G>A (p.Val242Ile)
c.607G>A (p.Val203Ile)
2g.61032050G>CCA346944624PEX13c.724G>C (p.Val242Leu)
c.607G>C (p.Val203Leu)
2g.61032050G>TCA346944625PEX13c.724G>T (p.Val242Phe)
c.607G>T (p.Val203Phe)
2g.61032051T>ACA346944629PEX13c.725T>A (p.Val242Asp)
c.608T>A (p.Val203Asp)
2g.61032051T>CCA346944632PEX13c.725T>C (p.Val242Ala)
c.608T>C (p.Val203Ala)
2g.61032051T>GCA346944634PEX13c.725T>G (p.Val242Gly)
c.608T>G (p.Val203Gly)
2g.61032052T>ACA426411851PEX13c.726T>A (p.Val242=)
c.609T>A (p.Val203=)
2g.61032052T>CCA426411852PEX13c.726T>C (p.Val242=)
c.609T>C (p.Val203=)
2g.61032052T>GCA426411853PEX13c.726T>G (p.Val242=)
c.609T>G (p.Val203=)
2g.61032053A=CA1255168230PEX13c.727A= (p.Ile243=)
c.610A= (p.Ile204=)
2g.61032053A>CCA346944637PEX13c.727A>C (p.Ile243Leu)
c.610A>C (p.Ile204Leu)
2g.61032053A>GCA346944640PEX13c.727A>G (p.Ile243Val)
c.610A>G (p.Ile204Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.61032053A>TCA346944638PEX13c.727A>T (p.Ile243Phe)
c.610A>T (p.Ile204Phe)
2g.61032054T>ACA346944645PEX13c.728T>A (p.Ile243Asn)
c.611T>A (p.Ile204Asn)
2g.61032054T>CCA1673338PEX13c.728T>C (p.Ile243Thr)
c.611T>C (p.Ile204Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032054T>GCA346944653PEX13c.728T>G (p.Ile243Ser)
c.611T>G (p.Ile204Ser)
2g.61032054T=CA1255168231PEX13c.728T= (p.Ile243=)
c.611T= (p.Ile204=)
2g.61032055C>ACA426411856PEX13c.729C>A (p.Ile243=)
c.612C>A (p.Ile204=)
2g.61032055C>GCA346944654PEX13c.729C>G (p.Ile243Met)
c.612C>G (p.Ile204Met)
2g.61032055C>TCA426411855PEX13c.729C>T (p.Ile243=)
c.612C>T (p.Ile204=)
 ClinVar gnomAD v4
2g.61032056C>ACA346944656PEX13c.730C>A (p.Leu244Ile)
c.613C>A (p.Leu205Ile)
2g.61032056C=CA1255168232PEX13c.730C= (p.Leu244=)
c.613C= (p.Leu205=)
2g.61032056C>GCA346944659PEX13c.730C>G (p.Leu244Val)
c.613C>G (p.Leu205Val)
2g.61032056C>TCA346944661PEX13c.730C>T (p.Leu244Phe)
c.613C>T (p.Leu205Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.61032057T>ACA346944663PEX13c.731T>A (p.Leu244His)
c.614T>A (p.Leu205His)
2g.61032057T>CCA346944666PEX13c.731T>C (p.Leu244Pro)
c.614T>C (p.Leu205Pro)
 gnomAD v4
2g.61032057T>GCA346944680PEX13c.731T>G (p.Leu244Arg)
c.614T>G (p.Leu205Arg)
2g.61032057_61032060delinsTTGGCA1255168233PEX13c.731_734delinsTTGG (p.Leu244=)
c.614_617delinsTTGG (p.Leu205=)
2g.61032058T>ACA426411859PEX13c.732T>A (p.Leu244=)
c.615T>A (p.Leu205=)
2g.61032058T>CCA426411861PEX13c.732T>C (p.Leu244=)
c.615T>C (p.Leu205=)
2g.61032058T>GCA426411860PEX13c.732T>G (p.Leu244=)
c.615T>G (p.Leu205=)
2g.61032062_61032064delCA533180229PEX13c.736_738del (p.Gly246del)
c.619_621del (p.Gly207del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032059G>ACA346944682PEX13c.733G>A (p.Gly245Ser)
c.616G>A (p.Gly206Ser)
2g.61032059G>CCA346944683PEX13c.733G>C (p.Gly245Arg)
c.616G>C (p.Gly206Arg)
 ClinVar dbSNP
2g.61032059G>TCA346944684PEX13c.733G>T (p.Gly245Cys)
c.616G>T (p.Gly206Cys)
2g.61032060G>ACA346944685PEX13c.734G>A (p.Gly245Asp)
c.617G>A (p.Gly206Asp)
2g.61032060G>CCA346944689PEX13c.734G>C (p.Gly245Ala)
c.617G>C (p.Gly206Ala)
2g.61032060G=CA1255168234PEX13c.734G= (p.Gly245=)
c.617G= (p.Gly206=)
2g.61032060G>TCA346944686PEX13c.734G>T (p.Gly245Val)
c.617G>T (p.Gly206Val)
 dbSNP gnomAD v2 gnomAD v4
2g.61032061T>ACA426411867PEX13c.735T>A (p.Gly245=)
c.618T>A (p.Gly206=)
 ClinVar dbSNP
2g.61032061T>CCA426411869PEX13c.735T>C (p.Gly245=)
c.618T>C (p.Gly206=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032061T>GCA426411870PEX13c.735T>G (p.Gly245=)
c.618T>G (p.Gly206=)
2g.61032061T=CA1255168235PEX13c.735T= (p.Gly245=)
c.618T= (p.Gly206=)
2g.61032062G>ACA346944695PEX13c.736G>A (p.Gly246Ser)
c.619G>A (p.Gly207Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.61032062G>CCA346944697PEX13c.736G>C (p.Gly246Arg)
c.619G>C (p.Gly207Arg)
2g.61032062G=CA1255168236PEX13c.736G= (p.Gly246=)
c.619G= (p.Gly207=)
2g.61032062G>TCA346944700PEX13c.736G>T (p.Gly246Cys)
c.619G>T (p.Gly207Cys)
2g.61032063G>ACA346944702PEX13c.737G>A (p.Gly246Asp)
c.620G>A (p.Gly207Asp)
2g.61032063G>CCA346944707PEX13c.737G>C (p.Gly246Ala)
c.620G>C (p.Gly207Ala)
2g.61032063G>TCA346944710PEX13c.737G>T (p.Gly246Val)
c.620G>T (p.Gly207Val)
 gnomAD v4
2g.61032064T>ACA426411872PEX13c.738T>A (p.Gly246=)
c.621T>A (p.Gly207=)
2g.61032064T>CCA426411873PEX13c.738T>C (p.Gly246=)
c.621T>C (p.Gly207=)
 ClinVar dbSNP gnomAD v4
2g.61032064T>GCA426411875PEX13c.738T>G (p.Gly246=)
c.621T>G (p.Gly207=)
2g.61032064T=CA1255168238PEX13c.738T= (p.Gly246=)
c.621T= (p.Gly207=)
2g.61032064_61032069delinsTCCTTACA1255168237PEX13c.738_743delinsTCCTTA (p.Gly246=)
c.621_626delinsTCCTTA (p.Gly207=)
2g.61032065C>ACA346944711PEX13c.739C>A (p.Pro247Thr)
c.622C>A (p.Pro208Thr)
2g.61032065C>GCA346944712PEX13c.739C>G (p.Pro247Ala)
c.622C>G (p.Pro208Ala)
2g.61032065C>TCA346944713PEX13c.739C>T (p.Pro247Ser)
c.622C>T (p.Pro208Ser)
 gnomAD v4
2g.61032068_61032072delCA1673339PEX13c.742_746del (p.Tyr248HisfsTer10)
c.625_629del (p.Tyr209HisfsTer10)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032066C>ACA346944719PEX13c.740C>A (p.Pro247His)
c.623C>A (p.Pro208His)
2g.61032066C>GCA346944722PEX13c.740C>G (p.Pro247Arg)
c.623C>G (p.Pro208Arg)
2g.61032066C>TCA346944717PEX13c.740C>T (p.Pro247Leu)
c.623C>T (p.Pro208Leu)
 gnomAD v4
2g.61032067T>ACA426411484PEX13c.741T>A (p.Pro247=)
c.624T>A (p.Pro208=)
2g.61032067T>CCA426411485PEX13c.741T>C (p.Pro247=)
c.624T>C (p.Pro208=)
2g.61032067T>GCA426411486PEX13c.741T>G (p.Pro247=)
c.624T>G (p.Pro208=)
2g.61032068T>ACA346944723PEX13c.742T>A (p.Tyr248Asn)
c.625T>A (p.Tyr209Asn)
2g.61032068T>CCA346944724PEX13c.742T>C (p.Tyr248His)
c.625T>C (p.Tyr209His)
2g.61032068T>GCA346944728PEX13c.742T>G (p.Tyr248Asp)
c.625T>G (p.Tyr209Asp)
2g.61032069A>CCA346944732PEX13c.743A>C (p.Tyr248Ser)
c.626A>C (p.Tyr209Ser)
2g.61032069A>GCA346944733PEX13c.743A>G (p.Tyr248Cys)
c.626A>G (p.Tyr209Cys)
2g.61032069A>TCA346944734PEX13c.743A>T (p.Tyr248Phe)
c.626A>T (p.Tyr209Phe)
2g.61032070C>ACA346944749PEX13c.744C>A (p.Tyr248Ter)
c.627C>A (p.Tyr209Ter)
2g.61032070C=CA1255168239PEX13c.744C= (p.Tyr248=)
c.627C= (p.Tyr209=)
2g.61032070C>GCA346944752PEX13c.744C>G (p.Tyr248Ter)
c.627C>G (p.Tyr209Ter)
 ClinVar
2g.61032070C>TCA1673340PEX13c.744C>T (p.Tyr248=)
c.627C>T (p.Tyr209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.61032071C>ACA346944760PEX13c.745C>A (p.Leu249Ile)
c.628C>A (p.Leu210Ile)
2g.61032071C>GCA346944762PEX13c.745C>G (p.Leu249Val)
c.628C>G (p.Leu210Val)
 gnomAD v4
2g.61032071C>TCA346944771PEX13c.745C>T (p.Leu249Phe)
c.628C>T (p.Leu210Phe)
 ClinVar dbSNP
2g.61032072T>ACA346944780PEX13c.746T>A (p.Leu249His)
c.629T>A (p.Leu210His)
2g.61032072T>CCA346944777PEX13c.746T>C (p.Leu249Pro)
c.629T>C (p.Leu210Pro)
2g.61032072T>GCA346944774PEX13c.746T>G (p.Leu249Arg)
c.629T>G (p.Leu210Arg)
2g.61032073C>ACA426411491PEX13c.747C>A (p.Leu249=)
c.630C>A (p.Leu210=)
2g.61032073C>GCA426411492PEX13c.747C>G (p.Leu249=)
c.630C>G (p.Leu210=)
2g.61032073C>TCA426411493PEX13c.747C>T (p.Leu249=)
c.630C>T (p.Leu210=)
2g.61032074A>CCA346944783PEX13c.748A>C (p.Ile250Leu)
c.631A>C (p.Ile211Leu)
2g.61032074A>GCA346944786PEX13c.748A>G (p.Ile250Val)
c.631A>G (p.Ile211Val)
2g.61032074A>TCA346944788PEX13c.748A>T (p.Ile250Phe)
c.631A>T (p.Ile211Phe)
2g.61032075T>ACA346944801PEX13c.749T>A (p.Ile250Asn)
c.632T>A (p.Ile211Asn)
2g.61032075T>CCA346944802PEX13c.749T>C (p.Ile250Thr)
c.632T>C (p.Ile211Thr)
2g.61032075T>GCA346944803PEX13c.749T>G (p.Ile250Ser)
c.632T>G (p.Ile211Ser)
2g.61032076T>ACA426411494PEX13c.750T>A (p.Ile250=)
c.633T>A (p.Ile211=)
2g.61032076T>CCA1673341PEX13c.750T>C (p.Ile250=)
c.633T>C (p.Ile211=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032076T>GCA346944804PEX13c.750T>G (p.Ile250Met)
c.633T>G (p.Ile211Met)
 dbSNP
2g.61032076T=CA1255168240PEX13c.750T= (p.Ile250=)
c.633T= (p.Ile211=)
2g.61032077T>ACA346944811PEX13c.751T>A (p.Trp251Arg)
c.634T>A (p.Trp212Arg)
 gnomAD v4
2g.61032077T>CCA346944813PEX13c.751T>C (p.Trp251Arg)
c.634T>C (p.Trp212Arg)
2g.61032077T>GCA346944818PEX13c.751T>G (p.Trp251Gly)
c.634T>G (p.Trp212Gly)
2g.61032078G>ACA346944820PEX13c.752G>A (p.Trp251Ter)
c.635G>A (p.Trp212Ter)
2g.61032078G>CCA346944826PEX13c.752G>C (p.Trp251Ser)
c.635G>C (p.Trp212Ser)
2g.61032078G>TCA346944828PEX13c.752G>T (p.Trp251Leu)
c.635G>T (p.Trp212Leu)
2g.61032079G>ACA346944834PEX13c.753G>A (p.Trp251Ter)
c.636G>A (p.Trp212Ter)
2g.61032079G>CCA346944836PEX13c.753G>C (p.Trp251Cys)
c.636G>C (p.Trp212Cys)
2g.61032079G>TCA346944832PEX13c.753G>T (p.Trp251Cys)
c.636G>T (p.Trp212Cys)
2g.61032080A>CCA346944839PEX13c.754A>C (p.Lys252Gln)
c.637A>C (p.Lys213Gln)
2g.61032080A>GCA346944844PEX13c.754A>G (p.Lys252Glu)
c.637A>G (p.Lys213Glu)
2g.61032080A>TCA346944845PEX13c.754A>T (p.Lys252Ter)
c.637A>T (p.Lys213Ter)
2g.61032081A=CA1255168241PEX13c.755A= (p.Lys252=)
c.638A= (p.Lys213=)
2g.61032081A>CCA346944847PEX13c.755A>C (p.Lys252Thr)
c.638A>C (p.Lys213Thr)
2g.61032081A>GCA346944849PEX13c.755A>G (p.Lys252Arg)
c.638A>G (p.Lys213Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.61032081A>TCA346944852PEX13c.755A>T (p.Lys252Ile)
c.638A>T (p.Lys213Ile)
2g.61032082A>CCA346944853PEX13c.756A>C (p.Lys252Asn)
c.639A>C (p.Lys213Asn)
2g.61032082A>GCA426411499PEX13c.756A>G (p.Lys252=)
c.639A>G (p.Lys213=)
 gnomAD v4
2g.61032082A>TCA346944854PEX13c.756A>T (p.Lys252Asn)
c.639A>T (p.Lys213Asn)
2g.61032083C>ACA346944855PEX13c.757C>A (p.Leu253Ile)
c.640C>A (p.Leu214Ile)
2g.61032083C>GCA346944856PEX13c.757C>G (p.Leu253Val)
c.640C>G (p.Leu214Val)
 gnomAD v4
2g.61032083C>TCA426411501PEX13c.757C>T (p.Leu253=)
c.640C>T (p.Leu214=)
2g.61032084T>ACA346944858PEX13c.758T>A (p.Leu253Gln)
c.641T>A (p.Leu214Gln)
2g.61032084T>CCA346944862PEX13c.758T>C (p.Leu253Pro)
c.641T>C (p.Leu214Pro)
2g.61032084T>GCA346944864PEX13c.758T>G (p.Leu253Arg)
c.641T>G (p.Leu214Arg)
2g.61032085_61032086delCA2576977551PEX13c.759_760del (p.Leu254ValfsTer5)
c.642_643del (p.Leu215ValfsTer5)
 ClinVar
2g.61032085A=CA1255168242PEX13c.759A= (p.Leu253=)
c.642A= (p.Leu214=)
2g.61032085A>CCA426411502PEX13c.759A>C (p.Leu253=)
c.642A>C (p.Leu214=)
2g.61032085A>GCA1673342PEX13c.759A>G (p.Leu253=)
c.642A>G (p.Leu214=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032085A>TCA426411503PEX13c.759A>T (p.Leu253=)
c.642A>T (p.Leu214=)
 ClinVar
2g.61032086T>ACA346944869PEX13c.760T>A (p.Leu254Met)
c.643T>A (p.Leu215Met)
 gnomAD v4
2g.61032086T>CCA426411505PEX13c.760T>C (p.Leu254=)
c.643T>C (p.Leu215=)
2g.61032086T>GCA346944870PEX13c.760T>G (p.Leu254Val)
c.643T>G (p.Leu215Val)
2g.61032087T>ACA346944874PEX13c.761T>A (p.Leu254Ter)
c.644T>A (p.Leu215Ter)
2g.61032087T>CCA346944877PEX13c.761T>C (p.Leu254Ser)
c.644T>C (p.Leu215Ser)
2g.61032087T>GCA346944880PEX13c.761T>G (p.Leu254Trp)
c.644T>G (p.Leu215Trp)
2g.61032087T=CA1255168243PEX13c.761T= (p.Leu254=)
c.644T= (p.Leu215=)
2g.61032087_61032088insTTACA1255168244PEX13c.761_762insTTA (p.Leu254PhefsTer2)
c.644_645insTTA (p.Leu215PhefsTer2)
 dbSNP gnomAD v3 gnomAD v4
2g.61032088G>ACA426411507PEX13c.762G>A (p.Leu254=)
c.645G>A (p.Leu215=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.61032088G>CCA346944884PEX13c.762G>C (p.Leu254Phe)
c.645G>C (p.Leu215Phe)
2g.61032088G=CA1255168245PEX13c.762G= (p.Leu254=)
c.645G= (p.Leu215=)
2g.61032088G>TCA346944885PEX13c.762G>T (p.Leu254Phe)
c.645G>T (p.Leu215Phe)
2g.61032089T>ACA346944887PEX13c.763T>A (p.Ser255Thr)
c.646T>A (p.Ser216Thr)
2g.61032089T>CCA346944890PEX13c.763T>C (p.Ser255Pro)
c.646T>C (p.Ser216Pro)
 gnomAD v4
2g.61032089T>GCA346944894PEX13c.763T>G (p.Ser255Ala)
c.646T>G (p.Ser216Ala)
2g.61032090C>ACA346944896PEX13c.764C>A (p.Ser255Tyr)
c.647C>A (p.Ser216Tyr)
 gnomAD v4
2g.61032090C>GCA346944897PEX13c.764C>G (p.Ser255Cys)
c.647C>G (p.Ser216Cys)
 gnomAD v4
2g.61032090C>TCA346944899PEX13c.764C>T (p.Ser255Phe)
c.647C>T (p.Ser216Phe)
 gnomAD v4
2g.61032091T>ACA426411508PEX13c.765T>A (p.Ser255=)
c.648T>A (p.Ser216=)
 dbSNP
2g.61032091T>CCA426411509PEX13c.765T>C (p.Ser255=)
c.648T>C (p.Ser216=)
2g.61032091T>GCA426411510PEX13c.765T>G (p.Ser255=)
c.648T>G (p.Ser216=)
2g.61032091T=CA1255168246PEX13c.765T= (p.Ser255=)
c.648T= (p.Ser216=)
2g.61032092A=CA1255168247PEX13c.766A= (p.Thr256=)
c.649A= (p.Thr217=)
2g.61032092A>CCA346944905PEX13c.766A>C (p.Thr256Pro)
c.649A>C (p.Thr217Pro)
2g.61032092A>GCA1673343PEX13c.766A>G (p.Thr256Ala)
c.649A>G (p.Thr217Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.61032092A>TCA346944902PEX13c.766A>T (p.Thr256Ser)
c.649A>T (p.Thr217Ser)
2g.61032093C>ACA346944916PEX13c.767C>A (p.Thr256Asn)
c.650C>A (p.Thr217Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.61032093C=CA1255168248PEX13c.767C= (p.Thr256=)
c.650C= (p.Thr217=)
2g.61032093C>GCA346944920PEX13c.767C>G (p.Thr256Ser)
c.650C>G (p.Thr217Ser)
2g.61032093C>TCA48342662PEX13c.767C>T (p.Thr256Ile)
c.650C>T (p.Thr217Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032094T>ACA426411514PEX13c.768T>A (p.Thr256=)
c.651T>A (p.Thr217=)
2g.61032094T>CCA426411515PEX13c.768T>C (p.Thr256=)
c.651T>C (p.Thr217=)
2g.61032094T>GCA426411516PEX13c.768T>G (p.Thr256=)
c.651T>G (p.Thr217=)
2g.61032095C>ACA346944923PEX13c.769C>A (p.His257Asn)
c.652C>A (p.His218Asn)
 gnomAD v4
2g.61032095C=CA1255168249PEX13c.769C= (p.His257=)
c.652C= (p.His218=)
2g.61032095C>GCA346944940PEX13c.769C>G (p.His257Asp)
c.652C>G (p.His218Asp)
2g.61032095C>TCA1673344PEX13c.769C>T (p.His257Tyr)
c.652C>T (p.His218Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.61032096A>CCA346944943PEX13c.770A>C (p.His257Pro)
c.653A>C (p.His218Pro)
2g.61032096A>GCA346944948PEX13c.770A>G (p.His257Arg)
c.653A>G (p.His218Arg)
2g.61032096A>TCA346944958PEX13c.770A>T (p.His257Leu)
c.653A>T (p.His218Leu)
2g.61032097C>ACA346944961PEX13c.771C>A (p.His257Gln)
c.654C>A (p.His218Gln)
2g.61032097C=CA1255168250PEX13c.771C= (p.His257=)
c.654C= (p.His218=)
2g.61032097C>GCA1673345PEX13c.771C>G (p.His257Gln)
c.654C>G (p.His218Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.61032097C>TCA426411519PEX13c.771C>T (p.His257=)
c.654C>T (p.His218=)
2g.61032098A>CCA346944964PEX13c.772A>C (p.Ser258Arg)
c.655A>C (p.Ser219Arg)
2g.61032098A>GCA346944968PEX13c.772A>G (p.Ser258Gly)
c.655A>G (p.Ser219Gly)
2g.61032098A>TCA346944970PEX13c.772A>T (p.Ser258Cys)
c.655A>T (p.Ser219Cys)
2g.61032099G>ACA346944973PEX13c.773G>A (p.Ser258Asn)
c.656G>A (p.Ser219Asn)
 gnomAD v4
2g.61032099G>CCA346944974PEX13c.773G>C (p.Ser258Thr)
c.656G>C (p.Ser219Thr)
2g.61032099G>TCA346944977PEX13c.773G>T (p.Ser258Ile)
c.656G>T (p.Ser219Ile)
2g.61032100T>ACA1673346PEX13c.774T>A (p.Ser258Arg)
c.657T>A (p.Ser219Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032100T>CCA426411520PEX13c.774T>C (p.Ser258=)
c.657T>C (p.Ser219=)
2g.61032100T>GCA346944983PEX13c.774T>G (p.Ser258Arg)
c.657T>G (p.Ser219Arg)
2g.61032100T=CA1255168251PEX13c.774T= (p.Ser258=)
c.657T= (p.Ser219=)
2g.61032101G>ACA346944986PEX13c.775G>A (p.Asp259Asn)
c.658G>A (p.Asp220Asn)
 gnomAD v4
2g.61032101G>CCA346944991PEX13c.775G>C (p.Asp259His)
c.658G>C (p.Asp220His)
2g.61032101G>TCA346944989PEX13c.775G>T (p.Asp259Tyr)
c.658G>T (p.Asp220Tyr)
2g.61032101_61032102delinsGACA1255168252PEX13c.775_776delinsGA (p.Asp259=)
c.658_659delinsGA (p.Asp220=)
2g.61032102delCA1031326229PEX13c.776del (p.Asp259ValfsTer3)
c.659del (p.Asp220ValfsTer3)
 dbSNP gnomAD v3 gnomAD v4
2g.61032102A>CCA346944994PEX13c.776A>C (p.Asp259Ala)
c.659A>C (p.Asp220Ala)
2g.61032102A>GCA346944996PEX13c.776A>G (p.Asp259Gly)
c.659A>G (p.Asp220Gly)
 gnomAD v4
2g.61032102A>TCA346944999PEX13c.776A>T (p.Asp259Val)
c.659A>T (p.Asp220Val)
2g.61032103T>ACA346945002PEX13c.777T>A (p.Asp259Glu)
c.660T>A (p.Asp220Glu)
2g.61032103T>CCA1673347PEX13c.777T>C (p.Asp259=)
c.660T>C (p.Asp220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032103T>GCA346945007PEX13c.777T>G (p.Asp259Glu)
c.660T>G (p.Asp220Glu)
2g.61032103T=CA1255168253PEX13c.777T= (p.Asp259=)
c.660T= (p.Asp220=)
2g.61032104G>ACA346945010PEX13c.778G>A (p.Glu260Lys)
c.661G>A (p.Glu221Lys)
2g.61032104G>CCA346945014PEX13c.778G>C (p.Glu260Gln)
c.661G>C (p.Glu221Gln)
 ClinVar gnomAD v4
2g.61032104G>TCA346945015PEX13c.778G>T (p.Glu260Ter)
c.661G>T (p.Glu221Ter)
2g.61032105A>CCA346945018PEX13c.779A>C (p.Glu260Ala)
c.662A>C (p.Glu221Ala)
2g.61032105A>GCA346945017PEX13c.779A>G (p.Glu260Gly)
c.662A>G (p.Glu221Gly)
2g.61032105A>TCA346945016PEX13c.779A>T (p.Glu260Val)
c.662A>T (p.Glu221Val)
2g.61032106A>CCA346945019PEX13c.780A>C (p.Glu260Asp)
c.663A>C (p.Glu221Asp)
2g.61032106A>GCA426411526PEX13c.780A>G (p.Glu260=)
c.663A>G (p.Glu221=)
 gnomAD v4
2g.61032106A>TCA346945020PEX13c.780A>T (p.Glu260Asp)
c.663A>T (p.Glu221Asp)
2g.61032107G>ACA346945024PEX13c.781G>A (p.Val261Ile)
c.664G>A (p.Val222Ile)
2g.61032107G>CCA346945026PEX13c.781G>C (p.Val261Leu)
c.664G>C (p.Val222Leu)
 gnomAD v4
2g.61032107G>TCA346945028PEX13c.781G>T (p.Val261Leu)
c.664G>T (p.Val222Leu)
2g.61032108T>ACA346945038PEX13c.782T>A (p.Val261Glu)
c.665T>A (p.Val222Glu)
2g.61032108T>CCA346945035PEX13c.782T>C (p.Val261Ala)
c.665T>C (p.Val222Ala)
2g.61032108T>GCA346945032PEX13c.782T>G (p.Val261Gly)
c.665T>G (p.Val222Gly)
 gnomAD v4
2g.61032109A>CCA426411529PEX13c.783A>C (p.Val261=)
c.666A>C (p.Val222=)
2g.61032109A>GCA426411530PEX13c.783A>G (p.Val261=)
c.666A>G (p.Val222=)
2g.61032109A>TCA426411531PEX13c.783A>T (p.Val261=)
c.666A>T (p.Val222=)
2g.61032110A>CCA346945043PEX13c.784A>C (p.Thr262Pro)
c.667A>C (p.Thr223Pro)
2g.61032110A>GCA346945046PEX13c.784A>G (p.Thr262Ala)
c.667A>G (p.Thr223Ala)
2g.61032110A>TCA346945047PEX13c.784A>T (p.Thr262Ser)
c.667A>T (p.Thr223Ser)
2g.61032111C>ACA346945049PEX13c.785C>A (p.Thr262Lys)
c.668C>A (p.Thr223Lys)
 gnomAD v4
2g.61032111C>GCA346945053PEX13c.785C>G (p.Thr262Arg)
c.668C>G (p.Thr223Arg)
2g.61032111C>TCA346945056PEX13c.785C>T (p.Thr262Ile)
c.668C>T (p.Thr223Ile)
 gnomAD v4
2g.61032112A>CCA426411533PEX13c.786A>C (p.Thr262=)
c.669A>C (p.Thr223=)
2g.61032112A>GCA426411534PEX13c.786A>G (p.Thr262=)
c.669A>G (p.Thr223=)
2g.61032112A>TCA426411535PEX13c.786A>T (p.Thr262=)
c.669A>T (p.Thr223=)
2g.61032112_61032113delinsAGCA1255168254PEX13c.786_787delinsAG (p.Thr262=)
c.669_670delinsAG (p.Thr223=)
2g.61032113G>ACA346945061PEX13c.787G>A (p.Asp263Asn)
c.670G>A (p.Asp224Asn)
 dbSNP gnomAD v4
2g.61032113G>CCA48342705PEX13c.787G>C (p.Asp263His)
c.670G>C (p.Asp224His)
 ClinVar dbSNP gnomAD v4
2g.61032113G=CA1255168255PEX13c.787G= (p.Asp263=)
c.670G= (p.Asp224=)
2g.61032113G>TCA346945063PEX13c.787G>T (p.Asp263Tyr)
c.670G>T (p.Asp224Tyr)
2g.61032114delCA533180163PEX13c.787+1del
c.670+1del
 dbSNP gnomAD v2 gnomAD v4
2g.61032113_61032114insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTACA2699601669PEX13c.787_787+1insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA (n.787_787+1insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA)
c.670_670+1insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA (n.670_670+1insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA)
 dbSNP
2g.61032114G>ACA346945076PEX13c.787+1G>A (n.787+1G>A)
c.670+1G>A (n.670+1G>A)
 ClinVar dbSNP
2g.61032114G>CCA346945078PEX13c.787+1G>C (n.787+1G>C)
c.670+1G>C (n.670+1G>C)
2g.61032114G>TCA346945084PEX13c.787+1G>T (n.787+1G>T)
c.670+1G>T (n.670+1G>T)
2g.61032115T>ACA346945089PEX13c.787+2T>A (n.787+2T>A)
c.670+2T>A (n.670+2T>A)
2g.61032115T>CCA346945091PEX13c.787+2T>C (n.787+2T>C)
c.670+2T>C (n.670+2T>C)
2g.61032115T>GCA346945095PEX13c.787+2T>G (n.787+2T>G)
c.670+2T>G (n.670+2T>G)
2g.61032115_61032120delinsTAAGAGCA1255168256PEX13c.787+2_787+7delinsTAAGAG (n.787+2_787+7delinsTAAGAG)
c.670+2_670+7delinsTAAGAG (n.670+2_670+7delinsTAAGAG)
2g.61032118_61032122delCA533180164PEX13c.787+5_787+9del (n.787+5_787+9del)
c.670+5_670+9del (n.670+5_670+9del)
 dbSNP gnomAD v2
2g.61032118G>ACA2659190628PEX13c.787+5G>A (n.787+5G>A)
c.670+5G>A (n.670+5G>A)
 gnomAD v4
2g.61032119A>GCA2576977552PEX13c.787+6A>G (n.787+6A>G)
c.670+6A>G (n.670+6A>G)
 gnomAD v4
2g.61032120G>CCA48342739PEX13c.787+7G>C (n.787+7G>C)
c.670+7G>C (n.670+7G>C)
 dbSNP
2g.61032120G=CA1255168257PEX13c.787+7G= (n.787+7G=)
c.670+7G= (n.670+7G=)
2g.61032123C>ACA2576977553PEX13c.787+10C>A (n.787+10C>A)
c.670+10C>A (n.670+10C>A)
 gnomAD v4
2g.61032123C>TCA2580067858PEX13c.787+10C>T (n.787+10C>T)
c.670+10C>T (n.670+10C>T)
 ClinVar
2g.61032124T>GCA2576977554PEX13c.787+11T>G (n.787+11T>G)
c.670+11T>G (n.670+11T>G)
2g.61032125G>ACA1673348PEX13c.787+12G>A (n.787+12G>A)
c.670+12G>A (n.670+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61032125G=CA1255168258PEX13c.787+12G= (n.787+12G=)
c.670+12G= (n.670+12G=)
2g.61032125G>TCA2580067859PEX13c.787+12G>T (n.787+12G>T)
c.670+12G>T (n.670+12G>T)
 ClinVar
2g.61032126T>ACA2659190629PEX13c.787+13T>A (n.787+13T>A)
c.670+13T>A (n.670+13T>A)
 gnomAD v4
2g.61032126T>CCA1673349PEX13c.787+13T>C (n.787+13T>C)
c.670+13T>C (n.670+13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.61032126T=CA1255168259PEX13c.787+13T= (n.787+13T=)
c.670+13T= (n.670+13T=)
2g.61032127A>CCA2659190630PEX13c.787+14A>C (n.787+14A>C)
c.670+14A>C (n.670+14A>C)
 gnomAD v4
2g.61032127A>GCA2659190631PEX13c.787+14A>G (n.787+14A>G)
c.670+14A>G (n.670+14A>G)
 gnomAD v4
2g.61032128A>GCA2659190632PEX13c.787+15A>G (n.787+15A>G)
c.670+15A>G (n.670+15A>G)
 gnomAD v4
2g.61032129G>ACA48342753PEX13c.787+16G>A (n.787+16G>A)
c.670+16G>A (n.670+16G>A)
 ClinVar dbSNP gnomAD v4
2g.61032129G=CA1255168260PEX13c.787+16G= (n.787+16G=)
c.670+16G= (n.670+16G=)
2g.61032131G>ACA2576977555PEX13c.787+18G>A (n.787+18G>A)
c.670+18G>A (n.670+18G>A)
 gnomAD v4
2g.61032131G>CCA533180165PEX13c.787+18G>C (n.787+18G>C)
c.670+18G>C (n.670+18G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032131G=CA1255168261PEX13c.787+18G= (n.787+18G=)
c.670+18G= (n.670+18G=)
2g.61032131G>TCA2659190633PEX13c.787+18G>T (n.787+18G>T)
c.670+18G>T (n.670+18G>T)
 gnomAD v4
2g.61032132A>GCA2659190634PEX13c.787+19A>G (n.787+19A>G)
c.670+19A>G (n.670+19A>G)
 gnomAD v4
2g.61032133A>GCA2659190635PEX13c.787+20A>G (n.787+20A>G)
c.670+20A>G (n.670+20A>G)
 gnomAD v4
2g.61032134C>ACA2576977557PEX13c.787+21C>A (n.787+21C>A)
c.670+21C>A (n.670+21C>A)
 gnomAD v4
2g.61032134C>TCA2576977556PEX13c.787+21C>T (n.787+21C>T)
c.670+21C>T (n.670+21C>T)
2g.61032136G>ACA2659190636PEX13c.787+23G>A (n.787+23G>A)
c.670+23G>A (n.670+23G>A)
 gnomAD v4
2g.61032136G>CCA2576977558PEX13c.787+23G>C (n.787+23G>C)
c.670+23G>C (n.670+23G>C)
 gnomAD v4
2g.61032137G>ACA2659190637PEX13c.787+24G>A (n.787+24G>A)
c.670+24G>A (n.670+24G>A)
 gnomAD v4
2g.61032137G=CA1255168262PEX13c.787+24G= (n.787+24G=)
c.670+24G= (n.670+24G=)
2g.61032137G>TCA48342754PEX13c.787+24G>T (n.787+24G>T)
c.670+24G>T (n.670+24G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032140C>ACA2659190638PEX13c.787+27C>A (n.787+27C>A)
c.670+27C>A (n.670+27C>A)
 gnomAD v4
2g.61032140C=CA1255168263PEX13c.787+27C= (n.787+27C=)
c.670+27C= (n.670+27C=)
2g.61032140C>TCA48342755PEX13c.787+27C>T (n.787+27C>T)
c.670+27C>T (n.670+27C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.61032141A>GCA2659190639PEX13c.787+28A>G (n.787+28A>G)
c.670+28A>G (n.670+28A>G)
 gnomAD v4
2g.61032142G>CCA770851775PEX13c.787+29G>C (n.787+29G>C)
c.670+29G>C (n.670+29G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.61032142G=CA1255168264PEX13c.787+29G= (n.787+29G=)
c.670+29G= (n.670+29G=)
2g.61032142G>TCA2576977559PEX13c.787+29G>T (n.787+29G>T)
c.670+29G>T (n.670+29G>T)
 gnomAD v4

Number of alleles fetched