Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149570117G>ACA251599MMADHCc.748C>T (p.Arg250Ter)
c.850C>T (p.Arg284Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.149570117G>CCA348869329MMADHCc.748C>G (p.Arg250Gly)
c.850C>G (p.Arg284Gly)
2g.149570117G=CA1297264326MMADHCc.748C= (p.Arg250=)
c.850C= (p.Arg284=)
2g.149570117G>TCA429405939MMADHCc.748C>A (p.Arg250=)
c.850C>A (p.Arg284=)
2g.149570118G>ACA429405940MMADHCc.747C>T (p.Tyr249=)
c.849C>T (p.Tyr283=)
2g.149570118G>CCA348869331MMADHCc.747C>G (p.Tyr249Ter)
c.849C>G (p.Tyr283Ter)
2g.149570118G>TCA348869333MMADHCc.747C>A (p.Tyr249Ter)
c.849C>A (p.Tyr283Ter)
2g.149570119T>ACA348869336MMADHCc.746A>T (p.Tyr249Phe)
c.848A>T (p.Tyr283Phe)
 gnomAD v4
2g.149570119T>CCA114488MMADHCc.746A>G (p.Tyr249Cys)
c.848A>G (p.Tyr283Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570119T>GCA348869340MMADHCc.746A>C (p.Tyr249Ser)
c.848A>C (p.Tyr283Ser)
2g.149570119T=CA1297264327MMADHCc.746A= (p.Tyr249=)
c.848A= (p.Tyr283=)
2g.149570120A=CA1297264328MMADHCc.745T= (p.Tyr249=)
c.847T= (p.Tyr283=)
2g.149570120A>CCA58332359MMADHCc.745T>G (p.Tyr249Asp)
c.847T>G (p.Tyr283Asp)
 dbSNP gnomAD v4
2g.149570120A>GCA1902273MMADHCc.745T>C (p.Tyr249His)
c.847T>C (p.Tyr283His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570120A>TCA348869342MMADHCc.745T>A (p.Tyr249Asn)
c.847T>A (p.Tyr283Asn)
2g.149570121G>ACA429405941MMADHCc.744C>T (p.Arg248=)
c.846C>T (p.Arg282=)
2g.149570121G>CCA429405942MMADHCc.744C>G (p.Arg248=)
c.846C>G (p.Arg282=)
2g.149570121G>TCA429405943MMADHCc.744C>A (p.Arg248=)
c.846C>A (p.Arg282=)
2g.149570122C>ACA348869348MMADHCc.743G>T (p.Arg248Leu)
c.845G>T (p.Arg282Leu)
2g.149570122C=CA1297264329MMADHCc.743G= (p.Arg248=)
c.845G= (p.Arg282=)
2g.149570122C>GCA348869346MMADHCc.743G>C (p.Arg248Pro)
c.845G>C (p.Arg282Pro)
2g.149570122C>TCA1902274MMADHCc.743G>A (p.Arg248His)
c.845G>A (p.Arg282His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570123G>ACA1902275MMADHCc.742C>T (p.Arg248Cys)
c.844C>T (p.Arg282Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570123G>CCA348869355MMADHCc.742C>G (p.Arg248Gly)
c.844C>G (p.Arg282Gly)
2g.149570123G=CA1297264330MMADHCc.742C= (p.Arg248=)
c.844C= (p.Arg282=)
2g.149570123G>TCA348869352MMADHCc.742C>A (p.Arg248Ser)
c.844C>A (p.Arg282Ser)
2g.149570124T>ACA348869357MMADHCc.741A>T (p.Glu247Asp)
c.843A>T (p.Glu281Asp)
2g.149570124T>CCA1902276MMADHCc.741A>G (p.Glu247=)
c.843A>G (p.Glu281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570124T>GCA348869360MMADHCc.741A>C (p.Glu247Asp)
c.843A>C (p.Glu281Asp)
2g.149570124T=CA1297264331MMADHCc.741A= (p.Glu247=)
c.843A= (p.Glu281=)
2g.149570125T>ACA348869364MMADHCc.740A>T (p.Glu247Val)
c.842A>T (p.Glu281Val)
2g.149570125T>CCA348869366MMADHCc.740A>G (p.Glu247Gly)
c.842A>G (p.Glu281Gly)
2g.149570125T>GCA348869368MMADHCc.740A>C (p.Glu247Ala)
c.842A>C (p.Glu281Ala)
2g.149570126C>ACA348869370MMADHCc.739G>T (p.Glu247Ter)
c.841G>T (p.Glu281Ter)
 ClinVar
2g.149570126C>GCA348869372MMADHCc.739G>C (p.Glu247Gln)
c.841G>C (p.Glu281Gln)
2g.149570126C>TCA348869374MMADHCc.739G>A (p.Glu247Lys)
c.841G>A (p.Glu281Lys)
 gnomAD v4
2g.149570127A>CCA348869378MMADHCc.738T>G (p.Asp246Glu)
c.840T>G (p.Asp280Glu)
2g.149570127A>GCA429405944MMADHCc.738T>C (p.Asp246=)
c.840T>C (p.Asp280=)
2g.149570127A>TCA348869380MMADHCc.738T>A (p.Asp246Glu)
c.840T>A (p.Asp280Glu)
2g.149570128T>ACA348869382MMADHCc.737A>T (p.Asp246Val)
c.839A>T (p.Asp280Val)
 dbSNP
2g.149570128T>CCA348869383MMADHCc.737A>G (p.Asp246Gly)
c.839A>G (p.Asp280Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.149570128T>GCA348869384MMADHCc.737A>C (p.Asp246Ala)
c.839A>C (p.Asp280Ala)
2g.149570128T=CA1297264332MMADHCc.737A= (p.Asp246=)
c.839A= (p.Asp280=)
2g.149570129C>ACA348869385MMADHCc.736G>T (p.Asp246Tyr)
c.838G>T (p.Asp280Tyr)
2g.149570129C=CA1297264333MMADHCc.736G= (p.Asp246=)
c.838G= (p.Asp280=)
2g.149570129C>GCA348869386MMADHCc.736G>C (p.Asp246His)
c.838G>C (p.Asp280His)
2g.149570129C>TCA1902277MMADHCc.736G>A (p.Asp246Asn)
c.838G>A (p.Asp280Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570130A=CA1297264334MMADHCc.735T= (p.Thr245=)
c.837T= (p.Thr279=)
2g.149570130A>CCA1902278MMADHCc.735T>G (p.Thr245=)
c.837T>G (p.Thr279=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570130A>GCA429405946MMADHCc.735T>C (p.Thr245=)
c.837T>C (p.Thr279=)
2g.149570130A>TCA429405945MMADHCc.735T>A (p.Thr245=)
c.837T>A (p.Thr279=)
2g.149570131G>ACA348869387MMADHCc.734C>T (p.Thr245Ile)
c.836C>T (p.Thr279Ile)
2g.149570131G>CCA348869388MMADHCc.734C>G (p.Thr245Ser)
c.836C>G (p.Thr279Ser)
 gnomAD v4
2g.149570131G>TCA348869389MMADHCc.734C>A (p.Thr245Asn)
c.836C>A (p.Thr279Asn)
2g.149570132T>ACA348869390MMADHCc.733A>T (p.Thr245Ser)
c.835A>T (p.Thr279Ser)
2g.149570132T>CCA348869391MMADHCc.733A>G (p.Thr245Ala)
c.835A>G (p.Thr279Ala)
2g.149570132T>GCA348869392MMADHCc.733A>C (p.Thr245Pro)
c.835A>C (p.Thr279Pro)
2g.149570133T>ACA348869393MMADHCc.732A>T (p.Glu244Asp)
c.834A>T (p.Glu278Asp)
2g.149570133T>CCA429405947MMADHCc.732A>G (p.Glu244=)
c.834A>G (p.Glu278=)
2g.149570133T>GCA348869394MMADHCc.732A>C (p.Glu244Asp)
c.834A>C (p.Glu278Asp)
2g.149570134T>ACA348869396MMADHCc.731A>T (p.Glu244Val)
c.833A>T (p.Glu278Val)
2g.149570134T>CCA348869397MMADHCc.731A>G (p.Glu244Gly)
c.833A>G (p.Glu278Gly)
2g.149570134T>GCA348869395MMADHCc.731A>C (p.Glu244Ala)
c.833A>C (p.Glu278Ala)
2g.149570135C>ACA348869398MMADHCc.730G>T (p.Glu244Ter)
c.832G>T (p.Glu278Ter)
2g.149570135C=CA1297264335MMADHCc.730G= (p.Glu244=)
c.832G= (p.Glu278=)
2g.149570135C>GCA348869399MMADHCc.730G>C (p.Glu244Gln)
c.832G>C (p.Glu278Gln)
 dbSNP
2g.149570135C>TCA348869400MMADHCc.730G>A (p.Glu244Lys)
c.832G>A (p.Glu278Lys)
2g.149570135_149570137delinsCAACA1297264336MMADHCc.728_730delinsTTG (p.Phe243=)
c.830_832delinsTTG (p.Phe277=)
2g.149570136A>CCA348869401MMADHCc.729T>G (p.Phe243Leu)
c.831T>G (p.Phe277Leu)
2g.149570136A>GCA429405948MMADHCc.729T>C (p.Phe243=)
c.831T>C (p.Phe277=)
2g.149570136A>TCA348869402MMADHCc.729T>A (p.Phe243Leu)
c.831T>A (p.Phe277Leu)
2g.149570140delCA2661422183MMADHCc.729del (p.Phe243LeufsTer10)
c.831del (p.Phe277LeufsTer10)
 gnomAD v4
2g.149570139_149570140delCA1297264337MMADHCc.728_729del (p.Phe243Ter)
c.830_831del (p.Phe277Ter)
 ClinVar dbSNP
2g.149570137A>CCA348869403MMADHCc.728T>G (p.Phe243Cys)
c.830T>G (p.Phe277Cys)
2g.149570137A>GCA348869404MMADHCc.728T>C (p.Phe243Ser)
c.830T>C (p.Phe277Ser)
2g.149570137A>TCA348869405MMADHCc.728T>A (p.Phe243Tyr)
c.830T>A (p.Phe277Tyr)
2g.149570138A=CA1297264338MMADHCc.727T= (p.Phe243=)
c.829T= (p.Phe277=)
2g.149570138A>CCA348869406MMADHCc.727T>G (p.Phe243Val)
c.829T>G (p.Phe277Val)
2g.149570138A>GCA348869407MMADHCc.727T>C (p.Phe243Leu)
c.829T>C (p.Phe277Leu)
 dbSNP
2g.149570138A>TCA348869408MMADHCc.727T>A (p.Phe243Ile)
c.829T>A (p.Phe277Ile)
2g.149570139A>CCA429405949MMADHCc.726T>G (p.Leu242=)
c.828T>G (p.Leu276=)
2g.149570139A>GCA429405950MMADHCc.726T>C (p.Leu242=)
c.828T>C (p.Leu276=)
2g.149570139A>TCA429405951MMADHCc.726T>A (p.Leu242=)
c.828T>A (p.Leu276=)
2g.149570140A>CCA348869410MMADHCc.725T>G (p.Leu242Arg)
c.827T>G (p.Leu276Arg)
2g.149570140A>GCA348869411MMADHCc.725T>C (p.Leu242Pro)
c.827T>C (p.Leu276Pro)
2g.149570140A>TCA348869409MMADHCc.725T>A (p.Leu242His)
c.827T>A (p.Leu276His)
 gnomAD v4
2g.149570141G>ACA348869412MMADHCc.724C>T (p.Leu242Phe)
c.826C>T (p.Leu276Phe)
 gnomAD v4
2g.149570141G>CCA1902279MMADHCc.724C>G (p.Leu242Val)
c.826C>G (p.Leu276Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570141G=CA1297264339MMADHCc.724C= (p.Leu242=)
c.826C= (p.Leu276=)
2g.149570141G>TCA348869413MMADHCc.724C>A (p.Leu242Ile)
c.826C>A (p.Leu276Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.149570142A>CCA429405952MMADHCc.723T>G (p.Thr241=)
c.825T>G (p.Thr275=)
 ClinVar
2g.149570142A>GCA429405953MMADHCc.723T>C (p.Thr241=)
c.825T>C (p.Thr275=)
2g.149570142A>TCA429405954MMADHCc.723T>A (p.Thr241=)
c.825T>A (p.Thr275=)
2g.149570143G>ACA348869414MMADHCc.722C>T (p.Thr241Ile)
c.824C>T (p.Thr275Ile)
2g.149570143G>CCA348869415MMADHCc.722C>G (p.Thr241Ser)
c.824C>G (p.Thr275Ser)
2g.149570143G>TCA348869416MMADHCc.722C>A (p.Thr241Asn)
c.824C>A (p.Thr275Asn)
2g.149570144T>ACA348869417MMADHCc.721A>T (p.Thr241Ser)
c.823A>T (p.Thr275Ser)
2g.149570144T>CCA348869419MMADHCc.721A>G (p.Thr241Ala)
c.823A>G (p.Thr275Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.149570144T>GCA348869418MMADHCc.721A>C (p.Thr241Pro)
c.823A>C (p.Thr275Pro)
2g.149570144T=CA1297264340MMADHCc.721A= (p.Thr241=)
c.823A= (p.Thr275=)
2g.149570145G>ACA429405955MMADHCc.720C>T (p.Asn240=)
c.822C>T (p.Asn274=)
2g.149570145G>CCA348869420MMADHCc.720C>G (p.Asn240Lys)
c.822C>G (p.Asn274Lys)
2g.149570145G>TCA348869421MMADHCc.720C>A (p.Asn240Lys)
c.822C>A (p.Asn274Lys)
2g.149570145_149570146delinsGTCA1297264341MMADHCc.719_720delinsAC (p.Asn240=)
c.821_822delinsAC (p.Asn274=)
2g.149570146T>ACA348869422MMADHCc.719A>T (p.Asn240Ile)
c.821A>T (p.Asn274Ile)
2g.149570146T>CCA348869423MMADHCc.719A>G (p.Asn240Ser)
c.821A>G (p.Asn274Ser)
 gnomAD v4
2g.149570146T>GCA348869424MMADHCc.719A>C (p.Asn240Thr)
c.821A>C (p.Asn274Thr)
2g.149570147delCA758703413MMADHCc.719del (p.Asn240ThrfsTer13)
c.821del (p.Asn274ThrfsTer13)
 dbSNP gnomAD v3 gnomAD v4
2g.149570150_149570153dupCA2661422184MMADHCc.716_719dup (p.Asn240LysfsTer6)
c.818_821dup (p.Asn274LysfsTer6)
 gnomAD v4
2g.149570147T>ACA348869426MMADHCc.718A>T (p.Asn240Tyr)
c.820A>T (p.Asn274Tyr)
2g.149570147T>CCA1902280MMADHCc.718A>G (p.Asn240Asp)
c.820A>G (p.Asn274Asp)
 dbSNP ExAC
2g.149570147T>GCA348869425MMADHCc.718A>C (p.Asn240His)
c.820A>C (p.Asn274His)
 gnomAD v4
2g.149570147T=CA1297264342MMADHCc.718A= (p.Asn240=)
c.820A= (p.Asn274=)
2g.149570148G>ACA429405956MMADHCc.717C>T (p.Asn239=)
c.819C>T (p.Asn273=)
2g.149570148G>CCA348869428MMADHCc.717C>G (p.Asn239Lys)
c.819C>G (p.Asn273Lys)
 COSMIC
2g.149570148G>TCA348869427MMADHCc.717C>A (p.Asn239Lys)
c.819C>A (p.Asn273Lys)
2g.149570149T>ACA348869429MMADHCc.716A>T (p.Asn239Ile)
c.818A>T (p.Asn273Ile)
2g.149570149T>CCA348869430MMADHCc.716A>G (p.Asn239Ser)
c.818A>G (p.Asn273Ser)
2g.149570149T>GCA348869431MMADHCc.716A>C (p.Asn239Thr)
c.818A>C (p.Asn273Thr)
2g.149570150T>ACA348869432MMADHCc.715A>T (p.Asn239Tyr)
c.817A>T (p.Asn273Tyr)
2g.149570150T>CCA348869433MMADHCc.715A>G (p.Asn239Asp)
c.817A>G (p.Asn273Asp)
2g.149570150T>GCA348869434MMADHCc.715A>C (p.Asn239His)
c.817A>C (p.Asn273His)
2g.149570151T>ACA429405959MMADHCc.714A>T (p.Thr238=)
c.816A>T (p.Thr272=)
2g.149570151T>CCA429405958MMADHCc.714A>G (p.Thr238=)
c.816A>G (p.Thr272=)
2g.149570151T>GCA429405957MMADHCc.714A>C (p.Thr238=)
c.816A>C (p.Thr272=)
 ClinVar dbSNP
2g.149570152G>ACA348869435MMADHCc.713C>T (p.Thr238Ile)
c.815C>T (p.Thr272Ile)
2g.149570152G>CCA348869436MMADHCc.713C>G (p.Thr238Arg)
c.815C>G (p.Thr272Arg)
 gnomAD v4 COSMIC
2g.149570152G>TCA348869437MMADHCc.713C>A (p.Thr238Lys)
c.815C>A (p.Thr272Lys)
2g.149570153T>ACA348869438MMADHCc.712A>T (p.Thr238Ser)
c.814A>T (p.Thr272Ser)
2g.149570153T>CCA348869439MMADHCc.712A>G (p.Thr238Ala)
c.814A>G (p.Thr272Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.149570153T>GCA348869440MMADHCc.712A>C (p.Thr238Pro)
c.814A>C (p.Thr272Pro)
2g.149570153T=CA1297264343MMADHCc.712A= (p.Thr238=)
c.814A= (p.Thr272=)
2g.149570154A=CA1297264344MMADHCc.711T= (p.Tyr237=)
c.813T= (p.Tyr271=)
2g.149570154A>CCA348869442MMADHCc.711T>G (p.Tyr237Ter)
c.813T>G (p.Tyr271Ter)
2g.149570154A>GCA429405960MMADHCc.711T>C (p.Tyr237=)
c.813T>C (p.Tyr271=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.149570154A>TCA348869441MMADHCc.711T>A (p.Tyr237Ter)
c.813T>A (p.Tyr271Ter)
2g.149570155T>ACA348869443MMADHCc.710A>T (p.Tyr237Phe)
c.812A>T (p.Tyr271Phe)
2g.149570155T>CCA348869444MMADHCc.710A>G (p.Tyr237Cys)
c.812A>G (p.Tyr271Cys)
 gnomAD v4
2g.149570155T>GCA348869445MMADHCc.710A>C (p.Tyr237Ser)
c.812A>C (p.Tyr271Ser)
2g.149570156delCA2661422185MMADHCc.709del (p.Tyr237IlefsTer16)
c.811del (p.Tyr271IlefsTer16)
 gnomAD v4
2g.149570156A>CCA348869446MMADHCc.709T>G (p.Tyr237Asp)
c.811T>G (p.Tyr271Asp)
2g.149570156A>GCA348869447MMADHCc.709T>C (p.Tyr237His)
c.811T>C (p.Tyr271His)
2g.149570156A>TCA348869448MMADHCc.709T>A (p.Tyr237Asn)
c.811T>A (p.Tyr271Asn)
2g.149570157T>ACA429405961MMADHCc.708A>T (p.Pro236=)
c.810A>T (p.Pro270=)
2g.149570157T>CCA1902281MMADHCc.708A>G (p.Pro236=)
c.810A>G (p.Pro270=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570157T>GCA429405962MMADHCc.708A>C (p.Pro236=)
c.810A>C (p.Pro270=)
2g.149570157T=CA1297264345MMADHCc.708A= (p.Pro236=)
c.810A= (p.Pro270=)
2g.149570158G>ACA1902282MMADHCc.707C>T (p.Pro236Leu)
c.809C>T (p.Pro270Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570158G>CCA348869449MMADHCc.707C>G (p.Pro236Arg)
c.809C>G (p.Pro270Arg)
2g.149570158G=CA1297264346MMADHCc.707C= (p.Pro236=)
c.809C= (p.Pro270=)
2g.149570158G>TCA348869450MMADHCc.707C>A (p.Pro236Gln)
c.809C>A (p.Pro270Gln)
2g.149570159G>ACA348869451MMADHCc.706C>T (p.Pro236Ser)
c.808C>T (p.Pro270Ser)
2g.149570159G>CCA348869452MMADHCc.706C>G (p.Pro236Ala)
c.808C>G (p.Pro270Ala)
2g.149570159G>TCA348869453MMADHCc.706C>A (p.Pro236Thr)
c.808C>A (p.Pro270Thr)
2g.149570160T>ACA429405963MMADHCc.705A>T (p.Gly235=)
c.807A>T (p.Gly269=)
2g.149570160T>CCA429405964MMADHCc.705A>G (p.Gly235=)
c.807A>G (p.Gly269=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.149570160T>GCA429405965MMADHCc.705A>C (p.Gly235=)
c.807A>C (p.Gly269=)
2g.149570160T=CA1297264347MMADHCc.705A= (p.Gly235=)
c.807A= (p.Gly269=)
2g.149570161C>ACA348869456MMADHCc.704G>T (p.Gly235Val)
c.806G>T (p.Gly269Val)
 gnomAD v4
2g.149570161C=CA1297264348MMADHCc.704G= (p.Gly235=)
c.806G= (p.Gly269=)
2g.149570161C>GCA348869455MMADHCc.704G>C (p.Gly235Ala)
c.806G>C (p.Gly269Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.149570161C>TCA348869454MMADHCc.704G>A (p.Gly235Glu)
c.806G>A (p.Gly269Glu)
 gnomAD v4
2g.149570162C>ACA348869457MMADHCc.703G>T (p.Gly235Ter)
c.805G>T (p.Gly269Ter)
2g.149570162C=CA1297264349MMADHCc.703G= (p.Gly235=)
c.805G= (p.Gly269=)
2g.149570162C>GCA348869458MMADHCc.703G>C (p.Gly235Arg)
c.805G>C (p.Gly269Arg)
2g.149570162C>TCA348869459MMADHCc.703G>A (p.Gly235Arg)
c.805G>A (p.Gly269Arg)
2g.149570163A>CCA348869460MMADHCc.702T>G (p.Phe234Leu)
c.804T>G (p.Phe268Leu)
2g.149570163A>GCA429405966MMADHCc.702T>C (p.Phe234=)
c.804T>C (p.Phe268=)
2g.149570163A>TCA348869461MMADHCc.702T>A (p.Phe234Leu)
c.804T>A (p.Phe268Leu)
2g.149570168dupCA1139657224MMADHCc.702dup (p.Gly235TrpfsTer10)
c.804dup (p.Gly269TrpfsTer10)
 ClinVar dbSNP
2g.149570168delCA2661422186MMADHCc.702del (p.Phe234LeufsTer19)
c.804del (p.Phe268LeufsTer19)
 gnomAD v4
2g.149570164A>CCA348869462MMADHCc.701T>G (p.Phe234Cys)
c.803T>G (p.Phe268Cys)
2g.149570164A>GCA348869463MMADHCc.701T>C (p.Phe234Ser)
c.803T>C (p.Phe268Ser)
2g.149570164A>TCA348869464MMADHCc.701T>A (p.Phe234Tyr)
c.803T>A (p.Phe268Tyr)
2g.149570165A>CCA348869465MMADHCc.700T>G (p.Phe234Val)
c.802T>G (p.Phe268Val)
2g.149570165A>GCA348869466MMADHCc.700T>C (p.Phe234Leu)
c.802T>C (p.Phe268Leu)
2g.149570165A>TCA348869467MMADHCc.700T>A (p.Phe234Ile)
c.802T>A (p.Phe268Ile)
2g.149570166A=CA1297264350MMADHCc.699T= (p.Phe233=)
c.801T= (p.Phe267=)
2g.149570166A>CCA348869468MMADHCc.699T>G (p.Phe233Leu)
c.801T>G (p.Phe267Leu)
2g.149570166A>GCA429405967MMADHCc.699T>C (p.Phe233=)
c.801T>C (p.Phe267=)
 ClinVar dbSNP
2g.149570166A>TCA348869469MMADHCc.699T>A (p.Phe233Leu)
c.801T>A (p.Phe267Leu)
2g.149570167A>CCA348869472MMADHCc.698T>G (p.Phe233Cys)
c.800T>G (p.Phe267Cys)
2g.149570167A>GCA348869470MMADHCc.698T>C (p.Phe233Ser)
c.800T>C (p.Phe267Ser)
2g.149570167A>TCA348869471MMADHCc.698T>A (p.Phe233Tyr)
c.800T>A (p.Phe267Tyr)
2g.149570168A=CA1297264351MMADHCc.697T= (p.Phe233=)
c.799T= (p.Phe267=)
2g.149570168A>CCA348869473MMADHCc.697T>G (p.Phe233Val)
c.799T>G (p.Phe267Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.149570168A>GCA348869474MMADHCc.697T>C (p.Phe233Leu)
c.799T>C (p.Phe267Leu)
2g.149570168A>TCA348869475MMADHCc.697T>A (p.Phe233Ile)
c.799T>A (p.Phe267Ile)
2g.149570168_149570169insTGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAGCA2661422187MMADHCc.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA (n.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA)
c.799-1_799insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA (n.799-1_799insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA)
 gnomAD v4
2g.149570169C>ACA348869476MMADHCc.697-1G>T (n.697-1G>T)
c.799-1G>T (n.799-1G>T)
2g.149570169C>GCA348869477MMADHCc.697-1G>C (n.697-1G>C)
c.799-1G>C (n.799-1G>C)
2g.149570169C>TCA348869478MMADHCc.697-1G>A (n.697-1G>A)
c.799-1G>A (n.799-1G>A)
2g.149570170T>ACA348869479MMADHCc.697-2A>T (n.697-2A>T)
c.799-2A>T (n.799-2A>T)
2g.149570170T>CCA348869480MMADHCc.697-2A>G (n.697-2A>G)
c.799-2A>G (n.799-2A>G)
 dbSNP
2g.149570170T>GCA348869481MMADHCc.697-2A>C (n.697-2A>C)
c.799-2A>C (n.799-2A>C)
2g.149570170T=CA1297264352MMADHCc.697-2A= (n.697-2A=)
c.799-2A= (n.799-2A=)
2g.149570170_149570171delCA2661422188MMADHCc.697-3_697-2del (n.697-3_697-2del)
c.799-3_799-2del (n.799-3_799-2del)
 gnomAD v4
2g.149570171G>ACA1902283MMADHCc.697-3C>T (n.697-3C>T)
c.799-3C>T (n.799-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570171G=CA1297264353MMADHCc.697-3C= (n.697-3C=)
c.799-3C= (n.799-3C=)
2g.149570172A=CA1297264354MMADHCc.697-4T= (n.697-4T=)
c.799-4T= (n.799-4T=)
2g.149570172A>GCA1902284MMADHCc.697-4T>C (n.697-4T>C)
c.799-4T>C (n.799-4T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570173G>ACA537032347MMADHCc.697-5C>T (n.697-5C>T)
c.799-5C>T (n.799-5C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.149570173G=CA1297264355MMADHCc.697-5C= (n.697-5C=)
c.799-5C= (n.799-5C=)
2g.149570173G>TCA2533726285MMADHCc.697-5C>A (n.697-5C>A)
c.799-5C>A (n.799-5C>A)
2g.149570174G>TCA2661422189MMADHCc.697-6C>A (n.697-6C>A)
c.799-6C>A (n.799-6C>A)
 gnomAD v4
2g.149570176_149570190dupCA2605614579MMADHCc.697-21_697-7dup (n.697-21_697-7dup)
c.799-21_799-7dup (n.799-21_799-7dup)
 ClinVar gnomAD v3 gnomAD v4
2g.149570176A=CA1297264356MMADHCc.697-8T= (n.697-8T=)
c.799-8T= (n.799-8T=)
2g.149570176A>CCA537032348MMADHCc.697-8T>G (n.697-8T>G)
c.799-8T>G (n.799-8T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.149570177A=CA1297264357MMADHCc.697-9T= (n.697-9T=)
c.799-9T= (n.799-9T=)
2g.149570177A>CCA2577116942MMADHCc.697-9T>G (n.697-9T>G)
c.799-9T>G (n.799-9T>G)
2g.149570177A>GCA537032349MMADHCc.697-9T>C (n.697-9T>C)
c.799-9T>C (n.799-9T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.149570178T>CCA1902285MMADHCc.697-10A>G (n.697-10A>G)
c.799-10A>G (n.799-10A>G)
 ClinVar dbSNP ExAC gnomAD v4
2g.149570178T=CA1297264358MMADHCc.697-10A= (n.697-10A=)
c.799-10A= (n.799-10A=)
2g.149570179A>GCA647537450MMADHCc.697-11T>C (n.697-11T>C)
c.799-11T>C (n.799-11T>C)
 COSMIC COSMIC
2g.149570183delCA2661422190MMADHCc.697-11del (n.697-11del)
c.799-11del (n.799-11del)
 gnomAD v4
2g.149570180A=CA1297264359MMADHCc.697-12T= (n.697-12T=)
c.799-12T= (n.799-12T=)
2g.149570180A>CCA537032352MMADHCc.697-12T>G (n.697-12T>G)
c.799-12T>G (n.799-12T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.149570183A=CA1297264360MMADHCc.697-15T= (n.697-15T=)
c.799-15T= (n.799-15T=)
2g.149570183A>GCA58332360MMADHCc.697-15T>C (n.697-15T>C)
c.799-15T>C (n.799-15T>C)
 dbSNP
2g.149570184C=CA1297264361MMADHCc.697-16G= (n.697-16G=)
c.799-16G= (n.799-16G=)
2g.149570184C>TCA1902286MMADHCc.697-16G>A (n.697-16G>A)
c.799-16G>A (n.799-16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570185G>ACA537032353MMADHCc.697-17C>T (n.697-17C>T)
c.799-17C>T (n.799-17C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.149570185G>CCA2752638774MMADHCc.697-17C>G (n.697-17C>G)
c.799-17C>G (n.799-17C>G)
2g.149570185G=CA1297264362MMADHCc.697-17C= (n.697-17C=)
c.799-17C= (n.799-17C=)
2g.149570185G>TCA2661422191MMADHCc.697-17C>A (n.697-17C>A)
c.799-17C>A (n.799-17C>A)
 gnomAD v4
2g.149570186A>TCA2577116943MMADHCc.697-18T>A (n.697-18T>A)
c.799-18T>A (n.799-18T>A)
2g.149570188delCA2739271277MMADHCc.697-18del (n.697-18del)
c.799-18del (n.799-18del)
 ClinVar
2g.149570188A>GCA2661422192MMADHCc.697-20T>C (n.697-20T>C)
c.799-20T>C (n.799-20T>C)
 gnomAD v4
2g.149570188_149570189insCACACCCAACACACA2752638775MMADHCc.697-20_697-19insGTGTTGGGTGTGT (n.697-20_697-19insGTGTTGGGTGTGT)
c.799-20_799-19insGTGTTGGGTGTGT (n.799-20_799-19insGTGTTGGGTGTGT)
2g.149570191T>CCA1902287MMADHCc.697-23A>G (n.697-23A>G)
c.799-23A>G (n.799-23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570191T>GCA1297264364MMADHCc.697-23A>C (n.697-23A>C)
c.799-23A>C (n.799-23A>C)
 dbSNP
2g.149570191T=CA1297264363MMADHCc.697-23A= (n.697-23A=)
c.799-23A= (n.799-23A=)
2g.149570194T>GCA2661422193MMADHCc.697-26A>C (n.697-26A>C)
c.799-26A>C (n.799-26A>C)
 gnomAD v4
2g.149570195C=CA1297264365MMADHCc.697-27G= (n.697-27G=)
c.799-27G= (n.799-27G=)
2g.149570195C>GCA1902288MMADHCc.697-27G>C (n.697-27G>C)
c.799-27G>C (n.799-27G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570195C>TCA1902290MMADHCc.697-27G>A (n.697-27G>A)
c.799-27G>A (n.799-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570195_149570198delinsCATTCA1297264366MMADHCc.697-30_697-27delinsAATG (n.697-30_697-27delinsAATG)
c.799-30_799-27delinsAATG (n.799-30_799-27delinsAATG)
2g.149570196A=CA1297264367MMADHCc.697-28T= (n.697-28T=)
c.799-28T= (n.799-28T=)
2g.149570196A>CCA2661422195MMADHCc.697-28T>G (n.697-28T>G)
c.799-28T>G (n.799-28T>G)
 gnomAD v4
2g.149570196dupCA2661422194MMADHCc.697-28dup (n.697-28dup)
c.799-28dup (n.799-28dup)
 gnomAD v4
2g.149570197_149570199delCA1902289MMADHCc.697-30_697-28del (n.697-30_697-28del)
c.799-30_799-28del (n.799-30_799-28del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570197T>CCA758703502MMADHCc.697-29A>G (n.697-29A>G)
c.799-29A>G (n.799-29A>G)
 dbSNP
2g.149570197T>GCA758703501MMADHCc.697-29A>C (n.697-29A>C)
c.799-29A>C (n.799-29A>C)
 dbSNP
2g.149570197T=CA1297264368MMADHCc.697-29A= (n.697-29A=)
c.799-29A= (n.799-29A=)
2g.149570198dupCA1902291MMADHCc.697-29dup (n.697-29dup)
c.799-29dup (n.799-29dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570198_149570199delCA2661422196MMADHCc.697-31_697-30del (n.697-31_697-30del)
c.799-31_799-30del (n.799-31_799-30del)
 gnomAD v4
2g.149570198_149570202delinsTAGTACA1297264369MMADHCc.697-34_697-30delinsTACTA (n.697-34_697-30delinsTACTA)
c.799-34_799-30delinsTACTA (n.799-34_799-30delinsTACTA)
2g.149570199A=CA1297264370MMADHCc.697-31T= (n.697-31T=)
c.799-31T= (n.799-31T=)
2g.149570199A>GCA2661422197MMADHCc.697-31T>C (n.697-31T>C)
c.799-31T>C (n.799-31T>C)
 gnomAD v4
2g.149570199A>TCA1902292MMADHCc.697-31T>A (n.697-31T>A)
c.799-31T>A (n.799-31T>A)
 dbSNP ExAC gnomAD v2
2g.149570201_149570204delCA1037732405MMADHCc.697-34_697-31del (n.697-34_697-31del)
c.799-34_799-31del (n.799-34_799-31del)
 dbSNP gnomAD v3 gnomAD v4
2g.149570200G>ACA1297264372MMADHCc.697-32C>T (n.697-32C>T)
c.799-32C>T (n.799-32C>T)
 dbSNP
2g.149570200G=CA1297264371MMADHCc.697-32C= (n.697-32C=)
c.799-32C= (n.799-32C=)
2g.149570203A=CA1297264373MMADHCc.697-35T= (n.697-35T=)
c.799-35T= (n.799-35T=)
2g.149570203A>CCA758703505MMADHCc.697-35T>G (n.697-35T>G)
c.799-35T>G (n.799-35T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.149570203A>GCA537032354MMADHCc.697-35T>C (n.697-35T>C)
c.799-35T>C (n.799-35T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.149570204G>ACA1297264375MMADHCc.697-36C>T (n.697-36C>T)
c.799-36C>T (n.799-36C>T)
 dbSNP
2g.149570204G=CA1297264374MMADHCc.697-36C= (n.697-36C=)
c.799-36C= (n.799-36C=)
2g.149570205A>GCA2661422198MMADHCc.697-37T>C (n.697-37T>C)
c.799-37T>C (n.799-37T>C)
 gnomAD v4
2g.149570207A>CCA2752638776MMADHCc.697-39T>G (n.697-39T>G)
c.799-39T>G (n.799-39T>G)
2g.149570208G>ACA537032355MMADHCc.697-40C>T (n.697-40C>T)
c.799-40C>T (n.799-40C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.149570208G=CA1297264376MMADHCc.697-40C= (n.697-40C=)
c.799-40C= (n.799-40C=)
2g.149570209A=CA1297264377MMADHCc.697-41T= (n.697-41T=)
c.799-41T= (n.799-41T=)
2g.149570209A>GCA537032356MMADHCc.697-41T>C (n.697-41T>C)
c.799-41T>C (n.799-41T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.149570212T>CCA2661422199MMADHCc.697-44A>G (n.697-44A>G)
c.799-44A>G (n.799-44A>G)
 gnomAD v4
2g.149570212T>GCA758703520MMADHCc.697-44A>C (n.697-44A>C)
c.799-44A>C (n.799-44A>C)
 dbSNP
2g.149570212T=CA1297264378MMADHCc.697-44A= (n.697-44A=)
c.799-44A= (n.799-44A=)
2g.149570215delCA2577116944MMADHCc.697-44del (n.697-44del)
c.799-44del (n.799-44del)
2g.149570215T>CCA2661422200MMADHCc.697-47A>G (n.697-47A>G)
c.799-47A>G (n.799-47A>G)
 gnomAD v4
2g.149570215T>GCA2661422201MMADHCc.697-47A>C (n.697-47A>C)
c.799-47A>C (n.799-47A>C)
 gnomAD v4
2g.149570216A=CA1297264379MMADHCc.697-48T= (n.697-48T=)
c.799-48T= (n.799-48T=)
2g.149570216A>GCA1297264380MMADHCc.697-48T>C (n.697-48T>C)
c.799-48T>C (n.799-48T>C)
 dbSNP
2g.149570216A>TCA2535815757MMADHCc.697-48T>A (n.697-48T>A)
c.799-48T>A (n.799-48T>A)
2g.149570217G>CCA2661422202MMADHCc.697-49C>G (n.697-49C>G)
c.799-49C>G (n.799-49C>G)
 gnomAD v4
2g.149570217G>TCA2570298010MMADHCc.697-49C>A (n.697-49C>A)
c.799-49C>A (n.799-49C>A)
 gnomAD v4

Number of alleles fetched