Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508869_45508882delinsGGATAGAGGTGCCACA2473783680MMACHCc.503_516delinsGGATAGAGGTGCCA (p.Gly168=)
c.332_345delinsGGATAGAGGTGCCA (p.Gly111=)
c.308_321delinsGGATAGAGGTGCCA (p.Gly103=)
1g.45508870_45508883delCA913075174MMACHCc.504_517del (p.Ile169SerfsTer8)
c.333_346del (p.Ile112SerfsTer8)
c.309_322del (p.Ile104SerfsTer8)
1g.45508873_45508885delCA658821029MMACHCc.507_519del (p.Glu170CysfsTer?)
c.336_348del (p.Glu113CysfsTer?)
c.312_324del (p.Glu105CysfsTer?)
 ClinVar dbSNP
1g.45508880C>ACA340133269MMACHCc.514C>A (p.Pro172Thr)
c.343C>A (p.Pro115Thr)
c.319C>A (p.Pro107Thr)
1g.45508880C>GCA340133273MMACHCc.514C>G (p.Pro172Ala)
c.343C>G (p.Pro115Ala)
c.319C>G (p.Pro107Ala)
1g.45508880C>TCA340133271MMACHCc.514C>T (p.Pro172Ser)
c.343C>T (p.Pro115Ser)
c.319C>T (p.Pro107Ser)
1g.45508881C>ACA340133275MMACHCc.515C>A (p.Pro172Gln)
c.344C>A (p.Pro115Gln)
c.320C>A (p.Pro107Gln)
1g.45508881C>GCA340133276MMACHCc.515C>G (p.Pro172Arg)
c.344C>G (p.Pro115Arg)
c.320C>G (p.Pro107Arg)
1g.45508881C>TCA340133278MMACHCc.515C>T (p.Pro172Leu)
c.344C>T (p.Pro115Leu)
c.320C>T (p.Pro107Leu)
1g.45508882A>CCA417881366MMACHCc.516A>C (p.Pro172=)
c.345A>C (p.Pro115=)
c.321A>C (p.Pro107=)
1g.45508882A>GCA417881367MMACHCc.516A>G (p.Pro172=)
c.345A>G (p.Pro115=)
c.321A>G (p.Pro107=)
 gnomAD v4
1g.45508882A>TCA417881368MMACHCc.516A>T (p.Pro172=)
c.345A>T (p.Pro115=)
c.321A>T (p.Pro107=)
1g.45508883G>ACA827777MMACHCc.517G>A (p.Asp173Asn)
c.346G>A (p.Asp116Asn)
c.322G>A (p.Asp108Asn)
 dbSNP ExAC gnomAD v2
1g.45508883G>CCA340133281MMACHCc.517G>C (p.Asp173His)
c.346G>C (p.Asp116His)
c.322G>C (p.Asp108His)
 gnomAD v4
1g.45508883G=CA2473783686MMACHCc.517G= (p.Asp173=)
c.346G= (p.Asp116=)
c.322G= (p.Asp108=)
1g.45508883G>TCA340133283MMACHCc.517G>T (p.Asp173Tyr)
c.346G>T (p.Asp116Tyr)
c.322G>T (p.Asp108Tyr)
1g.45508884A>CCA340133285MMACHCc.518A>C (p.Asp173Ala)
c.347A>C (p.Asp116Ala)
c.323A>C (p.Asp108Ala)
1g.45508884A>GCA340133287MMACHCc.518A>G (p.Asp173Gly)
c.347A>G (p.Asp116Gly)
c.323A>G (p.Asp108Gly)
1g.45508884A>TCA340133289MMACHCc.518A>T (p.Asp173Val)
c.347A>T (p.Asp116Val)
c.323A>T (p.Asp108Val)
1g.45508885T>ACA340133291MMACHCc.519T>A (p.Asp173Glu)
c.348T>A (p.Asp116Glu)
c.324T>A (p.Asp108Glu)
1g.45508885T>CCA417881372MMACHCc.519T>C (p.Asp173=)
c.348T>C (p.Asp116=)
c.324T>C (p.Asp108=)
 gnomAD v4
1g.45508885T>GCA340133293MMACHCc.519T>G (p.Asp173Glu)
c.348T>G (p.Asp116Glu)
c.324T>G (p.Asp108Glu)
1g.45508886C>ACA340133297MMACHCc.520C>A (p.Leu174Met)
c.349C>A (p.Leu117Met)
c.325C>A (p.Leu109Met)
1g.45508886C=CA2473783687MMACHCc.520C= (p.Leu174=)
c.349C= (p.Leu117=)
c.325C= (p.Leu109=)
1g.45508886C>GCA340133295MMACHCc.520C>G (p.Leu174Val)
c.349C>G (p.Leu117Val)
c.325C>G (p.Leu109Val)
1g.45508886C>TCA417881374MMACHCc.520C>T (p.Leu174=)
c.349C>T (p.Leu117=)
c.325C>T (p.Leu109=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508887T>ACA340133299MMACHCc.521T>A (p.Leu174Gln)
c.350T>A (p.Leu117Gln)
c.326T>A (p.Leu109Gln)
1g.45508887T>CCA340133302MMACHCc.521T>C (p.Leu174Pro)
c.350T>C (p.Leu117Pro)
c.326T>C (p.Leu109Pro)
1g.45508887T>GCA340133300MMACHCc.521T>G (p.Leu174Arg)
c.350T>G (p.Leu117Arg)
c.326T>G (p.Leu109Arg)
1g.45508888G>ACA417881377MMACHCc.522G>A (p.Leu174=)
c.351G>A (p.Leu117=)
c.327G>A (p.Leu109=)
 dbSNP gnomAD v3 gnomAD v4
1g.45508888G>CCA417881379MMACHCc.522G>C (p.Leu174=)
c.351G>C (p.Leu117=)
c.327G>C (p.Leu109=)
1g.45508888G=CA2473783688MMACHCc.522G= (p.Leu174=)
c.351G= (p.Leu117=)
c.327G= (p.Leu109=)
1g.45508888G>TCA417881380MMACHCc.522G>T (p.Leu174=)
c.351G>T (p.Leu117=)
c.327G>T (p.Leu109=)
1g.45508889C>ACA340133304MMACHCc.523C>A (p.Pro175Thr)
c.352C>A (p.Pro118Thr)
c.328C>A (p.Pro110Thr)
 gnomAD v4
1g.45508889C=CA2473783689MMACHCc.523C= (p.Pro175=)
c.352C= (p.Pro118=)
c.328C= (p.Pro110=)
1g.45508889C>GCA340133305MMACHCc.523C>G (p.Pro175Ala)
c.352C>G (p.Pro118Ala)
c.328C>G (p.Pro110Ala)
1g.45508889C>TCA827778MMACHCc.523C>T (p.Pro175Ser)
c.352C>T (p.Pro118Ser)
c.328C>T (p.Pro110Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508890C>ACA340133308MMACHCc.524C>A (p.Pro175Gln)
c.353C>A (p.Pro118Gln)
c.329C>A (p.Pro110Gln)
1g.45508890C=CA2473783690MMACHCc.524C= (p.Pro175=)
c.353C= (p.Pro118=)
c.329C= (p.Pro110=)
1g.45508890C>GCA340133309MMACHCc.524C>G (p.Pro175Arg)
c.353C>G (p.Pro118Arg)
c.329C>G (p.Pro110Arg)
1g.45508890C>TCA827779MMACHCc.524C>T (p.Pro175Leu)
c.353C>T (p.Pro118Leu)
c.329C>T (p.Pro110Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508891A>CCA417881383MMACHCc.525A>C (p.Pro175=)
c.354A>C (p.Pro118=)
c.330A>C (p.Pro110=)
1g.45508891A>GCA417881384MMACHCc.525A>G (p.Pro175=)
c.354A>G (p.Pro118=)
c.330A>G (p.Pro110=)
1g.45508891A>TCA417881385MMACHCc.525A>T (p.Pro175=)
c.354A>T (p.Pro118=)
c.330A>T (p.Pro110=)
1g.45508892C>ACA340133313MMACHCc.526C>A (p.Pro176Thr)
c.355C>A (p.Pro119Thr)
c.331C>A (p.Pro111Thr)
1g.45508892C=CA2473783691MMACHCc.526C= (p.Pro176=)
c.355C= (p.Pro119=)
c.331C= (p.Pro111=)
1g.45508892C>GCA340133315MMACHCc.526C>G (p.Pro176Ala)
c.355C>G (p.Pro119Ala)
c.331C>G (p.Pro111Ala)
1g.45508892C>TCA21829704MMACHCc.526C>T (p.Pro176Ser)
c.355C>T (p.Pro119Ser)
c.331C>T (p.Pro111Ser)
 dbSNP gnomAD v4
1g.45508893C>ACA340133317MMACHCc.527C>A (p.Pro176His)
c.356C>A (p.Pro119His)
c.332C>A (p.Pro111His)
1g.45508893C=CA2473783692MMACHCc.527C= (p.Pro176=)
c.356C= (p.Pro119=)
c.332C= (p.Pro111=)
1g.45508893C>GCA340133319MMACHCc.527C>G (p.Pro176Arg)
c.356C>G (p.Pro119Arg)
c.332C>G (p.Pro111Arg)
1g.45508893C>TCA21829708MMACHCc.527C>T (p.Pro176Leu)
c.356C>T (p.Pro119Leu)
c.332C>T (p.Pro111Leu)
 dbSNP gnomAD v4
1g.45508894C>ACA417881387MMACHCc.528C>A (p.Pro176=)
c.357C>A (p.Pro119=)
c.333C>A (p.Pro111=)
1g.45508894C>GCA417881388MMACHCc.528C>G (p.Pro176=)
c.357C>G (p.Pro119=)
c.333C>G (p.Pro111=)
1g.45508894C>TCA417881389MMACHCc.528C>T (p.Pro176=)
c.357C>T (p.Pro119=)
c.333C>T (p.Pro111=)
1g.45508895A=CA2473783693MMACHCc.529A= (p.Arg177=)
c.358A= (p.Arg120=)
c.334A= (p.Arg112=)
1g.45508895A>CCA417881390MMACHCc.529A>C (p.Arg177=)
c.358A>C (p.Arg120=)
c.334A>C (p.Arg112=)
1g.45508895A>GCA340133323MMACHCc.529A>G (p.Arg177Gly)
c.358A>G (p.Arg120Gly)
c.334A>G (p.Arg112Gly)
 dbSNP
1g.45508895A>TCA340133324MMACHCc.529A>T (p.Arg177Ter)
c.358A>T (p.Arg120Ter)
c.334A>T (p.Arg112Ter)
1g.45508896G>ACA340133327MMACHCc.530G>A (p.Arg177Lys)
c.359G>A (p.Arg120Lys)
c.335G>A (p.Arg112Lys)
1g.45508896G>CCA340133328MMACHCc.530G>C (p.Arg177Thr)
c.359G>C (p.Arg120Thr)
c.335G>C (p.Arg112Thr)
 gnomAD v4
1g.45508896G>TCA340133329MMACHCc.530G>T (p.Arg177Ile)
c.359G>T (p.Arg120Ile)
c.335G>T (p.Arg112Ile)
1g.45508897A=CA2473783694MMACHCc.531A= (p.Arg177=)
c.360A= (p.Arg120=)
c.336A= (p.Arg112=)
1g.45508897A>CCA340133331MMACHCc.531A>C (p.Arg177Ser)
c.360A>C (p.Arg120Ser)
c.336A>C (p.Arg112Ser)
1g.45508897A>GCA417881394MMACHCc.531A>G (p.Arg177=)
c.360A>G (p.Arg120=)
c.336A>G (p.Arg112=)
 dbSNP gnomAD v2 gnomAD v4
1g.45508897A>TCA340133333MMACHCc.531A>T (p.Arg177Ser)
c.360A>T (p.Arg120Ser)
c.336A>T (p.Arg112Ser)
1g.45508900delCA2573132353MMACHCc.534del (p.Lys178AsnfsTer?)
c.363del (p.Lys121AsnfsTer?)
c.339del (p.Lys113AsnfsTer?)
 ClinVar dbSNP gnomAD v4
1g.45508898A=CA2473783695MMACHCc.532A= (p.Lys178=)
c.361A= (p.Lys121=)
c.337A= (p.Lys113=)
1g.45508898A>CCA340133335MMACHCc.532A>C (p.Lys178Gln)
c.361A>C (p.Lys121Gln)
c.337A>C (p.Lys113Gln)
1g.45508898A>GCA340133337MMACHCc.532A>G (p.Lys178Glu)
c.361A>G (p.Lys121Glu)
c.337A>G (p.Lys113Glu)
1g.45508898A>TCA340133339MMACHCc.532A>T (p.Lys178Ter)
c.361A>T (p.Lys121Ter)
c.337A>T (p.Lys113Ter)
 dbSNP
1g.45508899A>CCA340133340MMACHCc.533A>C (p.Lys178Thr)
c.362A>C (p.Lys121Thr)
c.338A>C (p.Lys113Thr)
1g.45508899A>GCA340133341MMACHCc.533A>G (p.Lys178Arg)
c.362A>G (p.Lys121Arg)
c.338A>G (p.Lys113Arg)
 gnomAD v4
1g.45508899A>TCA340133343MMACHCc.533A>T (p.Lys178Ile)
c.362A>T (p.Lys121Ile)
c.338A>T (p.Lys113Ile)
1g.45508900A=CA2473783696MMACHCc.534A= (p.Lys178=)
c.363A= (p.Lys121=)
c.339A= (p.Lys113=)
1g.45508900A>CCA340133346MMACHCc.534A>C (p.Lys178Asn)
c.363A>C (p.Lys121Asn)
c.339A>C (p.Lys113Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.45508900A>GCA417881396MMACHCc.534A>G (p.Lys178=)
c.363A>G (p.Lys121=)
c.339A>G (p.Lys113=)
1g.45508900A>TCA340133347MMACHCc.534A>T (p.Lys178Asn)
c.363A>T (p.Lys121Asn)
c.339A>T (p.Lys113Asn)
1g.45508901C>ACA340133352MMACHCc.535C>A (p.Pro179Thr)
c.364C>A (p.Pro122Thr)
c.340C>A (p.Pro114Thr)
1g.45508901C>GCA340133354MMACHCc.535C>G (p.Pro179Ala)
c.364C>G (p.Pro122Ala)
c.340C>G (p.Pro114Ala)
1g.45508901C>TCA340133350MMACHCc.535C>T (p.Pro179Ser)
c.364C>T (p.Pro122Ser)
c.340C>T (p.Pro114Ser)
1g.45508902C>ACA340133357MMACHCc.536C>A (p.Pro179His)
c.365C>A (p.Pro122His)
c.341C>A (p.Pro114His)
1g.45508902C=CA1143583376MMACHCc.536C= (p.Pro179=)
c.365C= (p.Pro122=)
c.341C= (p.Pro114=)
1g.45508902C>GCA21829711MMACHCc.536C>G (p.Pro179Arg)
c.365C>G (p.Pro122Arg)
c.341C>G (p.Pro114Arg)
 dbSNP gnomAD v4
1g.45508902C>TCA340133359MMACHCc.536C>T (p.Pro179Leu)
c.365C>T (p.Pro122Leu)
c.341C>T (p.Pro114Leu)
1g.45508902_45508905delinsCTCACA2473783697MMACHCc.536_539delinsCTCA (p.Pro179=)
c.365_368delinsCTCA (p.Pro122=)
c.341_344delinsCTCA (p.Pro114=)
1g.45508902_45508903insATCA913185032MMACHCc.536_537insAT (p.His180PhefsTer?)
c.365_366insAT (p.His123PhefsTer?)
c.341_342insAT (p.His115PhefsTer?)
1g.45508902_45508903insCGCA2743432426MMACHCc.536_537insCG (p.His180ValfsTer?)
c.365_366insCG (p.His123ValfsTer?)
c.341_342insCG (p.His115ValfsTer?)
1g.45508903T>ACA417881400MMACHCc.537T>A (p.Pro179=)
c.366T>A (p.Pro122=)
c.342T>A (p.Pro114=)
1g.45508903T>CCA417881402MMACHCc.537T>C (p.Pro179=)
c.366T>C (p.Pro122=)
c.342T>C (p.Pro114=)
 gnomAD v4
1g.45508903T>GCA417881401MMACHCc.537T>G (p.Pro179=)
c.366T>G (p.Pro122=)
c.342T>G (p.Pro114=)
1g.45508904_45508906delCA736191505MMACHCc.538_540del (p.His180del)
c.367_369del (p.His123del)
c.343_345del (p.His115del)
 dbSNP
1g.45508904C>ACA340133361MMACHCc.538C>A (p.His180Asn)
c.367C>A (p.His123Asn)
c.343C>A (p.His115Asn)
1g.45508904C>GCA340133364MMACHCc.538C>G (p.His180Asp)
c.367C>G (p.His123Asp)
c.343C>G (p.His115Asp)
1g.45508904C>TCA340133363MMACHCc.538C>T (p.His180Tyr)
c.367C>T (p.His123Tyr)
c.343C>T (p.His115Tyr)
1g.45508904_45508905delCA2743432429MMACHCc.538_539del (p.His180Ter)
c.367_368del (p.His123Ter)
c.343_344del (p.His115Ter)
1g.45508904_45508906delinsCATCA2473783698MMACHCc.538_540delinsCAT (p.His180=)
c.367_369delinsCAT (p.His123=)
c.343_345delinsCAT (p.His115=)
1g.45508905A=CA2473783699MMACHCc.539A= (p.His180=)
c.368A= (p.His123=)
c.344A= (p.His115=)
1g.45508905A>CCA340133367MMACHCc.539A>C (p.His180Pro)
c.368A>C (p.His123Pro)
c.344A>C (p.His115Pro)
1g.45508905A>GCA340133369MMACHCc.539A>G (p.His180Arg)
c.368A>G (p.His123Arg)
c.344A>G (p.His115Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.45508905A>TCA340133371MMACHCc.539A>T (p.His180Leu)
c.368A>T (p.His123Leu)
c.344A>T (p.His115Leu)
1g.45508905_45508906delCA522810887MMACHCc.539_540del (p.His180ArgfsTer8)
c.368_369del (p.His123ArgfsTer8)
c.344_345del (p.His115ArgfsTer8)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508905_45508913delCA913075175MMACHCc.539_547del (p.His180_Val183delinsLeu)
c.368_376del (p.His123_Val126delinsLeu)
c.344_352del (p.His115_Val118delinsLeu)
1g.45508905_45508913delinsATGACTGTGCA2473783700MMACHCc.539_547delinsATGACTGTG (p.His180=)
c.368_376delinsATGACTGTG (p.His123=)
c.344_352delinsATGACTGTG (p.His115=)
1g.45508906T>ACA340133373MMACHCc.540T>A (p.His180Gln)
c.369T>A (p.His123Gln)
c.345T>A (p.His115Gln)
1g.45508906T>CCA827780MMACHCc.540T>C (p.His180=)
c.369T>C (p.His123=)
c.345T>C (p.His115=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508906T>GCA340133375MMACHCc.540T>G (p.His180Gln)
c.369T>G (p.His123Gln)
c.345T>G (p.His115Gln)
1g.45508906T=CA2473783701MMACHCc.540T= (p.His180=)
c.369T= (p.His123=)
c.345T= (p.His115=)
1g.45508908_45508911dupCA2695198018MMACHCc.542_545dup (p.Cys182Ter)
c.371_374dup (p.Cys125Ter)
c.347_350dup (p.Cys117Ter)
 ClinVar
1g.45508907_45508914delCA658821030MMACHCc.541_548del (p.Asp181ThrfsTer5)
c.370_377del (p.Asp124ThrfsTer5)
c.346_353del (p.Asp116ThrfsTer5)
 ClinVar dbSNP
1g.45508907G>ACA827782MMACHCc.541G>A (p.Asp181Asn)
c.370G>A (p.Asp124Asn)
c.346G>A (p.Asp116Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508907G>CCA340133377MMACHCc.541G>C (p.Asp181His)
c.370G>C (p.Asp124His)
c.346G>C (p.Asp116His)
1g.45508907G=CA2473783702MMACHCc.541G= (p.Asp181=)
c.370G= (p.Asp124=)
c.346G= (p.Asp116=)
1g.45508907G>TCA827781MMACHCc.541G>T (p.Asp181Tyr)
c.370G>T (p.Asp124Tyr)
c.346G>T (p.Asp116Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508908A>CCA340133381MMACHCc.542A>C (p.Asp181Ala)
c.371A>C (p.Asp124Ala)
c.347A>C (p.Asp116Ala)
1g.45508908A>GCA340133383MMACHCc.542A>G (p.Asp181Gly)
c.371A>G (p.Asp124Gly)
c.347A>G (p.Asp116Gly)
1g.45508908A>TCA340133385MMACHCc.542A>T (p.Asp181Val)
c.371A>T (p.Asp124Val)
c.347A>T (p.Asp116Val)
1g.45508908_45508910dupCA2645391255MMACHCc.542_544dup (p.Asp181_Cys182insTyr)
c.371_373dup (p.Asp124_Cys125insTyr)
c.347_349dup (p.Asp116_Cys117insTyr)
 gnomAD v4
1g.45508909C>ACA340133387MMACHCc.543C>A (p.Asp181Glu)
c.372C>A (p.Asp124Glu)
c.348C>A (p.Asp116Glu)
1g.45508909C>GCA340133389MMACHCc.543C>G (p.Asp181Glu)
c.372C>G (p.Asp124Glu)
c.348C>G (p.Asp116Glu)
1g.45508909C>TCA417881409MMACHCc.543C>T (p.Asp181=)
c.372C>T (p.Asp124=)
c.348C>T (p.Asp116=)
1g.45508909_45508911delinsCTGCA2473783703MMACHCc.543_545delinsCTG (p.Asp181=)
c.372_374delinsCTG (p.Asp124=)
c.348_350delinsCTG (p.Asp116=)
1g.45508910T>ACA340133391MMACHCc.544T>A (p.Cys182Ser)
c.373T>A (p.Cys125Ser)
c.349T>A (p.Cys117Ser)
1g.45508910T>CCA21829729MMACHCc.544T>C (p.Cys182Arg)
c.373T>C (p.Cys125Arg)
c.349T>C (p.Cys117Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508910T>GCA340133392MMACHCc.544T>G (p.Cys182Gly)
c.373T>G (p.Cys125Gly)
c.349T>G (p.Cys117Gly)
1g.45508910T=CA2473783704MMACHCc.544T= (p.Cys182=)
c.373T= (p.Cys125=)
c.349T= (p.Cys117=)
1g.45508913_45508914delCA223192MMACHCc.547_548del (p.Val183ThrfsTer5)
c.376_377del (p.Val126ThrfsTer5)
c.352_353del (p.Val118ThrfsTer5)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508910_45508911insCCA522810890MMACHCc.544_545insC (p.Cys182SerfsTer7)
c.373_374insC (p.Cys125SerfsTer7)
c.349_350insC (p.Cys117SerfsTer7)
 dbSNP gnomAD v2 gnomAD v4
1g.45508911G>ACA827783MMACHCc.545G>A (p.Cys182Tyr)
c.374G>A (p.Cys125Tyr)
c.350G>A (p.Cys117Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508911G>CCA827784MMACHCc.545G>C (p.Cys182Ser)
c.374G>C (p.Cys125Ser)
c.350G>C (p.Cys117Ser)
 dbSNP ExAC gnomAD v2
1g.45508911G=CA1143833310MMACHCc.545G= (p.Cys182=)
c.374G= (p.Cys125=)
c.350G= (p.Cys117=)
1g.45508911G>TCA340133396MMACHCc.545G>T (p.Cys182Phe)
c.374G>T (p.Cys125Phe)
c.350G>T (p.Cys117Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.45508912T>ACA340133397MMACHCc.546T>A (p.Cys182Ter)
c.375T>A (p.Cys125Ter)
c.351T>A (p.Cys117Ter)
1g.45508912T>CCA417881413MMACHCc.546T>C (p.Cys182=)
c.375T>C (p.Cys125=)
c.351T>C (p.Cys117=)
 ClinVar dbSNP gnomAD v4
1g.45508912T>GCA340133398MMACHCc.546T>G (p.Cys182Trp)
c.375T>G (p.Cys125Trp)
c.351T>G (p.Cys117Trp)
1g.45508913G>ACA340133401MMACHCc.547G>A (p.Val183Ile)
c.376G>A (p.Val126Ile)
c.352G>A (p.Val118Ile)
 ClinVar
1g.45508913G>CCA340133403MMACHCc.547G>C (p.Val183Leu)
c.376G>C (p.Val126Leu)
c.352G>C (p.Val118Leu)
1g.45508913G=CA2473783705MMACHCc.547G= (p.Val183=)
c.376G= (p.Val126=)
c.352G= (p.Val118=)
1g.45508913G>TCA340133404MMACHCc.547G>T (p.Val183Leu)
c.376G>T (p.Val126Leu)
c.352G>T (p.Val118Leu)
1g.45508914delCA2645391257MMACHCc.548del (p.Val183AspfsTer27)
c.377del (p.Val126AspfsTer27)
c.353del (p.Val118AspfsTer27)
 gnomAD v4
1g.45508914T>ACA340133409MMACHCc.548T>A (p.Val183Glu)
c.377T>A (p.Val126Glu)
c.353T>A (p.Val118Glu)
1g.45508914T>CCA827786MMACHCc.548T>C (p.Val183Ala)
c.377T>C (p.Val126Ala)
c.353T>C (p.Val118Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508914T>GCA340133408MMACHCc.548T>G (p.Val183Gly)
c.377T>G (p.Val126Gly)
c.353T>G (p.Val118Gly)
1g.45508914T=CA2473783706MMACHCc.548T= (p.Val183=)
c.377T= (p.Val126=)
c.353T= (p.Val118=)
1g.45508914dupCA522810891MMACHCc.548dup (p.Pro184ThrfsTer5)
c.377dup (p.Pro127ThrfsTer5)
c.353dup (p.Pro119ThrfsTer5)
 dbSNP gnomAD v2 gnomAD v4
1g.45508917_45508920dupCA827785MMACHCc.551_554dup (p.Arg186TyrfsTer4)
c.380_383dup (p.Arg129TyrfsTer4)
c.356_359dup (p.Arg121TyrfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508915A>CCA417881418MMACHCc.549A>C (p.Val183=)
c.378A>C (p.Val126=)
c.354A>C (p.Val118=)
 ClinVar
1g.45508915A>GCA417881419MMACHCc.549A>G (p.Val183=)
c.378A>G (p.Val126=)
c.354A>G (p.Val118=)
 gnomAD v4
1g.45508915A>TCA417881420MMACHCc.549A>T (p.Val183=)
c.378A>T (p.Val126=)
c.354A>T (p.Val118=)
1g.45508916C>ACA340133413MMACHCc.550C>A (p.Pro184Thr)
c.379C>A (p.Pro127Thr)
c.355C>A (p.Pro119Thr)
 dbSNP
1g.45508916C=CA1148567635MMACHCc.550C= (p.Pro184=)
c.379C= (p.Pro127=)
c.355C= (p.Pro119=)
1g.45508916C>GCA340133414MMACHCc.550C>G (p.Pro184Ala)
c.379C>G (p.Pro127Ala)
c.355C>G (p.Pro119Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.45508916C>TCA827787MMACHCc.550C>T (p.Pro184Ser)
c.379C>T (p.Pro127Ser)
c.355C>T (p.Pro119Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508917C>ACA340133417MMACHCc.551C>A (p.Pro184His)
c.380C>A (p.Pro127His)
c.356C>A (p.Pro119His)
1g.45508917C=CA2473783707MMACHCc.551C= (p.Pro184=)
c.380C= (p.Pro127=)
c.356C= (p.Pro119=)
1g.45508917C>GCA340133418MMACHCc.551C>G (p.Pro184Arg)
c.380C>G (p.Pro127Arg)
c.356C>G (p.Pro119Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.45508917C>TCA340133420MMACHCc.551C>T (p.Pro184Leu)
c.380C>T (p.Pro127Leu)
c.356C>T (p.Pro119Leu)
1g.45508918T>ACA417881425MMACHCc.552T>A (p.Pro184=)
c.381T>A (p.Pro127=)
c.357T>A (p.Pro119=)
 COSMIC
1g.45508918T>CCA417881427MMACHCc.552T>C (p.Pro184=)
c.381T>C (p.Pro127=)
c.357T>C (p.Pro119=)
1g.45508918T>GCA417881426MMACHCc.552T>G (p.Pro184=)
c.381T>G (p.Pro127=)
c.357T>G (p.Pro119=)
1g.45508919A=CA2473783708MMACHCc.553A= (p.Thr185=)
c.382A= (p.Thr128=)
c.358A= (p.Thr120=)
1g.45508919A>CCA340133426MMACHCc.553A>C (p.Thr185Pro)
c.382A>C (p.Thr128Pro)
c.358A>C (p.Thr120Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508919A>GCA340133422MMACHCc.553A>G (p.Thr185Ala)
c.382A>G (p.Thr128Ala)
c.358A>G (p.Thr120Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508919A>TCA340133424MMACHCc.553A>T (p.Thr185Ser)
c.382A>T (p.Thr128Ser)
c.358A>T (p.Thr120Ser)
1g.45508920C>ACA340133428MMACHCc.554C>A (p.Thr185Lys)
c.383C>A (p.Thr128Lys)
c.359C>A (p.Thr120Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.45508920C=CA1143481039MMACHCc.554C= (p.Thr185=)
c.383C= (p.Thr128=)
c.359C= (p.Thr120=)
1g.45508920C>GCA827788MMACHCc.554C>G (p.Thr185Arg)
c.383C>G (p.Thr128Arg)
c.359C>G (p.Thr120Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508920C>TCA340133430MMACHCc.554C>T (p.Thr185Ile)
c.383C>T (p.Thr128Ile)
c.359C>T (p.Thr120Ile)
1g.45508921A>CCA417881428MMACHCc.555A>C (p.Thr185=)
c.384A>C (p.Thr128=)
c.360A>C (p.Thr120=)
 gnomAD v4
1g.45508921A>GCA417881429MMACHCc.555A>G (p.Thr185=)
c.384A>G (p.Thr128=)
c.360A>G (p.Thr120=)
 gnomAD v4
1g.45508921A>TCA417881430MMACHCc.555A>T (p.Thr185=)
c.384A>T (p.Thr128=)
c.360A>T (p.Thr120=)
1g.45508922A>CCA417881432MMACHCc.556A>C (p.Arg186=)
c.385A>C (p.Arg129=)
c.361A>C (p.Arg121=)
1g.45508922A>GCA340133432MMACHCc.556A>G (p.Arg186Gly)
c.385A>G (p.Arg129Gly)
c.361A>G (p.Arg121Gly)
 gnomAD v4
1g.45508922A>TCA340133434MMACHCc.556A>T (p.Arg186Ter)
c.385A>T (p.Arg129Ter)
c.361A>T (p.Arg121Ter)
1g.45508923G>ACA827789MMACHCc.557G>A (p.Arg186Lys)
c.386G>A (p.Arg129Lys)
c.362G>A (p.Arg121Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508923G>CCA340133439MMACHCc.557G>C (p.Arg186Thr)
c.386G>C (p.Arg129Thr)
c.362G>C (p.Arg121Thr)
1g.45508923G=CA2473783709MMACHCc.557G= (p.Arg186=)
c.386G= (p.Arg129=)
c.362G= (p.Arg121=)
1g.45508923G>TCA340133436MMACHCc.557G>T (p.Arg186Ile)
c.386G>T (p.Arg129Ile)
c.362G>T (p.Arg121Ile)
1g.45508924A>CCA340133441MMACHCc.558A>C (p.Arg186Ser)
c.387A>C (p.Arg129Ser)
c.363A>C (p.Arg121Ser)
1g.45508924A>GCA417881435MMACHCc.558A>G (p.Arg186=)
c.387A>G (p.Arg129=)
c.363A>G (p.Arg121=)
1g.45508924A>TCA340133443MMACHCc.558A>T (p.Arg186Ser)
c.387A>T (p.Arg129Ser)
c.363A>T (p.Arg121Ser)
1g.45508924_45508936delCA913075176MMACHCc.558_570del (p.Ala187ProfsTer19)
c.387_399del (p.Ala130ProfsTer19)
c.363_375del (p.Ala122ProfsTer19)
1g.45508924_45508936delinsAGCTGACCGTATCCA2473783710MMACHCc.558_570delinsAGCTGACCGTATC (p.Arg186=)
c.387_399delinsAGCTGACCGTATC (p.Arg129=)
c.363_375delinsAGCTGACCGTATC (p.Arg121=)
1g.45508925G>ACA340133445MMACHCc.559G>A (p.Ala187Thr)
c.388G>A (p.Ala130Thr)
c.364G>A (p.Ala122Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.45508925G>CCA340133447MMACHCc.559G>C (p.Ala187Pro)
c.388G>C (p.Ala130Pro)
c.364G>C (p.Ala122Pro)
 gnomAD v4
1g.45508925G=CA2473783711MMACHCc.559G= (p.Ala187=)
c.388G= (p.Ala130=)
c.364G= (p.Ala122=)
1g.45508925G>TCA340133449MMACHCc.559G>T (p.Ala187Ser)
c.388G>T (p.Ala130Ser)
c.364G>T (p.Ala122Ser)
1g.45508927_45508938delCA658821031MMACHCc.561_572del (p.Asp188_Ala191del)
c.390_401del (p.Asp131_Ala134del)
c.366_377del (p.Asp123_Ala126del)
 ClinVar dbSNP
1g.45508926C>ACA340133451MMACHCc.560C>A (p.Ala187Asp)
c.389C>A (p.Ala130Asp)
c.365C>A (p.Ala122Asp)
1g.45508926C>GCA340133453MMACHCc.560C>G (p.Ala187Gly)
c.389C>G (p.Ala130Gly)
c.365C>G (p.Ala122Gly)
1g.45508926C>TCA340133454MMACHCc.560C>T (p.Ala187Val)
c.389C>T (p.Ala130Val)
c.365C>T (p.Ala122Val)
1g.45508927T>ACA417881439MMACHCc.561T>A (p.Ala187=)
c.390T>A (p.Ala130=)
c.366T>A (p.Ala122=)
1g.45508927T>CCA417881441MMACHCc.561T>C (p.Ala187=)
c.390T>C (p.Ala130=)
c.366T>C (p.Ala122=)
1g.45508927T>GCA417881442MMACHCc.561T>G (p.Ala187=)
c.390T>G (p.Ala130=)
c.366T>G (p.Ala122=)
1g.45508928G>ACA827790MMACHCc.562G>A (p.Asp188Asn)
c.391G>A (p.Asp131Asn)
c.367G>A (p.Asp123Asn)
 ClinVar dbSNP ExAC gnomAD v2
1g.45508928G>CCA340133458MMACHCc.562G>C (p.Asp188His)
c.391G>C (p.Asp131His)
c.367G>C (p.Asp123His)
1g.45508928G=CA1149038854MMACHCc.562G= (p.Asp188=)
c.391G= (p.Asp131=)
c.367G= (p.Asp123=)
1g.45508928G>TCA340133460MMACHCc.562G>T (p.Asp188Tyr)
c.391G>T (p.Asp131Tyr)
c.367G>T (p.Asp123Tyr)
1g.45508929A>CCA340133463MMACHCc.563A>C (p.Asp188Ala)
c.392A>C (p.Asp131Ala)
c.368A>C (p.Asp123Ala)
1g.45508929A>GCA340133467MMACHCc.563A>G (p.Asp188Gly)
c.392A>G (p.Asp131Gly)
c.368A>G (p.Asp123Gly)
1g.45508929A>TCA340133465MMACHCc.563A>T (p.Asp188Val)
c.392A>T (p.Asp131Val)
c.368A>T (p.Asp123Val)
 gnomAD v4
1g.45508929_45508930delCA913075177MMACHCc.563_564del (p.Asp188AlafsTer14)
c.392_393del (p.Asp131AlafsTer14)
c.368_369del (p.Asp123AlafsTer14)
1g.45508929_45508930delinsACCA2473783712MMACHCc.563_564delinsAC (p.Asp188=)
c.392_393delinsAC (p.Asp131=)
c.368_369delinsAC (p.Asp123=)
1g.45508930C>ACA340133469MMACHCc.564C>A (p.Asp188Glu)
c.393C>A (p.Asp131Glu)
c.369C>A (p.Asp123Glu)
1g.45508930C=CA2473783713MMACHCc.564C= (p.Asp188=)
c.393C= (p.Asp131=)
c.369C= (p.Asp123=)
1g.45508930C>GCA340133471MMACHCc.564C>G (p.Asp188Glu)
c.393C>G (p.Asp131Glu)
c.369C>G (p.Asp123Glu)
1g.45508930C>TCA417881448MMACHCc.564C>T (p.Asp188=)
c.393C>T (p.Asp131=)
c.369C>T (p.Asp123=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508931dupCA2645391258MMACHCc.565dup (p.Arg189ProfsTer14)
c.394dup (p.Arg132ProfsTer14)
c.370dup (p.Arg124ProfsTer14)
 gnomAD v4
1g.45508931delCA522810898MMACHCc.565del (p.Arg189ValfsTer21)
c.394del (p.Arg132ValfsTer21)
c.370del (p.Arg124ValfsTer21)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508932_45508940delCA2586966643MMACHCc.566_574del (p.Arg189_Ala191del)
c.395_403del (p.Arg132_Ala134del)
c.371_379del (p.Arg124_Ala126del)
1g.45508931C>ACA827791MMACHCc.565C>A (p.Arg189Ser)
c.394C>A (p.Arg132Ser)
c.370C>A (p.Arg124Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508931C=CA1143447009MMACHCc.565C= (p.Arg189=)
c.394C= (p.Arg132=)
c.370C= (p.Arg124=)
1g.45508931C>GCA340133474MMACHCc.565C>G (p.Arg189Gly)
c.394C>G (p.Arg132Gly)
c.370C>G (p.Arg124Gly)
1g.45508931C>TCA827792MMACHCc.565C>T (p.Arg189Cys)
c.394C>T (p.Arg132Cys)
c.370C>T (p.Arg124Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508932G>ACA827793MMACHCc.566G>A (p.Arg189His)
c.395G>A (p.Arg132His)
c.371G>A (p.Arg124His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508932G>CCA340133478MMACHCc.566G>C (p.Arg189Pro)
c.395G>C (p.Arg132Pro)
c.371G>C (p.Arg124Pro)
1g.45508932G=CA2473783714MMACHCc.566G= (p.Arg189=)
c.395G= (p.Arg132=)
c.371G= (p.Arg124=)
1g.45508932G>TCA340133480MMACHCc.566G>T (p.Arg189Leu)
c.395G>T (p.Arg132Leu)
c.371G>T (p.Arg124Leu)
 ClinVar gnomAD v4
1g.45508932dupCA913075178MMACHCc.566dup (p.Ile190TyrfsTer13)
c.395dup (p.Ile133TyrfsTer13)
c.371dup (p.Ile125TyrfsTer13)
1g.45508933T>ACA417881452MMACHCc.567T>A (p.Arg189=)
c.396T>A (p.Arg132=)
c.372T>A (p.Arg124=)
1g.45508933T>CCA417881450MMACHCc.567T>C (p.Arg189=)
c.396T>C (p.Arg132=)
c.372T>C (p.Arg124=)
1g.45508933T>GCA417881451MMACHCc.567T>G (p.Arg189=)
c.396T>G (p.Arg132=)
c.372T>G (p.Arg124=)
1g.45508933_45508934insCCTTCA2586966644MMACHCc.567_568insCCTT (p.Ile190ProfsTer14)
c.396_397insCCTT (p.Ile133ProfsTer14)
c.372_373insCCTT (p.Ile125ProfsTer14)
1g.45508933dupCA522810899MMACHCc.567dup (p.Ile190TyrfsTer13)
c.396dup (p.Ile133TyrfsTer13)
c.372dup (p.Ile125TyrfsTer13)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508934A>CCA340133482MMACHCc.568A>C (p.Ile190Leu)
c.397A>C (p.Ile133Leu)
c.373A>C (p.Ile125Leu)
1g.45508934A>GCA340133485MMACHCc.568A>G (p.Ile190Val)
c.397A>G (p.Ile133Val)
c.373A>G (p.Ile125Val)
1g.45508934A>TCA340133486MMACHCc.568A>T (p.Ile190Phe)
c.397A>T (p.Ile133Phe)
c.373A>T (p.Ile125Phe)
1g.45508935T>ACA340133489MMACHCc.569T>A (p.Ile190Asn)
c.398T>A (p.Ile133Asn)
c.374T>A (p.Ile125Asn)
1g.45508935T>CCA340133491MMACHCc.569T>C (p.Ile190Thr)
c.398T>C (p.Ile133Thr)
c.374T>C (p.Ile125Thr)
1g.45508935T>GCA340133493MMACHCc.569T>G (p.Ile190Ser)
c.398T>G (p.Ile133Ser)
c.374T>G (p.Ile125Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.45508935T=CA2473783715MMACHCc.569T= (p.Ile190=)
c.398T= (p.Ile133=)
c.374T= (p.Ile125=)
1g.45508936C>ACA417881453MMACHCc.570C>A (p.Ile190=)
c.399C>A (p.Ile133=)
c.375C>A (p.Ile125=)
1g.45508936C=CA2473783716MMACHCc.570C= (p.Ile190=)
c.399C= (p.Ile133=)
c.375C= (p.Ile125=)
1g.45508936C>GCA340133496MMACHCc.570C>G (p.Ile190Met)
c.399C>G (p.Ile133Met)
c.375C>G (p.Ile125Met)
1g.45508936C>TCA827794MMACHCc.570C>T (p.Ile190=)
c.399C>T (p.Ile133=)
c.375C>T (p.Ile125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508937_45508938delCA913075179MMACHCc.571_572del (p.Ala191ProfsTer11)
c.400_401del (p.Ala134ProfsTer11)
c.376_377del (p.Ala126ProfsTer11)
1g.45508936_45508937insTCA2586966645MMACHCc.570_571insT (p.Ala191CysfsTer12)
c.399_400insT (p.Ala134CysfsTer12)
c.375_376insT (p.Ala126CysfsTer12)
1g.45508937G>ACA827795MMACHCc.571G>A (p.Ala191Thr)
c.400G>A (p.Ala134Thr)
c.376G>A (p.Ala126Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508937G>CCA340133497MMACHCc.571G>C (p.Ala191Pro)
c.400G>C (p.Ala134Pro)
c.376G>C (p.Ala126Pro)
1g.45508937G=CA2473783718MMACHCc.571G= (p.Ala191=)
c.400G= (p.Ala134=)
c.376G= (p.Ala126=)
1g.45508937G>TCA21829760MMACHCc.571G>T (p.Ala191Ser)
c.400G>T (p.Ala134Ser)
c.376G>T (p.Ala126Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508937_45508938delinsGCCA2473783717MMACHCc.571_572delinsGC (p.Ala191=)
c.400_401delinsGC (p.Ala134=)
c.376_377delinsGC (p.Ala126=)
1g.45508938C>ACA340133500MMACHCc.572C>A (p.Ala191Asp)
c.401C>A (p.Ala134Asp)
c.377C>A (p.Ala126Asp)
1g.45508938C=CA1144060573MMACHCc.572C= (p.Ala191=)
c.401C= (p.Ala134=)
c.377C= (p.Ala126=)
1g.45508938C>GCA827796MMACHCc.572C>G (p.Ala191Gly)
c.401C>G (p.Ala134Gly)
c.377C>G (p.Ala126Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508938C>TCA827797MMACHCc.572C>T (p.Ala191Val)
c.401C>T (p.Ala134Val)
c.377C>T (p.Ala126Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508940delCA658821032MMACHCc.574del (p.Leu192TyrfsTer18)
c.403del (p.Leu135TyrfsTer18)
c.379del (p.Leu127TyrfsTer18)
 ClinVar dbSNP
1g.45508939C>ACA417881458MMACHCc.573C>A (p.Ala191=)
c.402C>A (p.Ala134=)
c.378C>A (p.Ala126=)
1g.45508939C=CA2473783719MMACHCc.573C= (p.Ala191=)
c.402C= (p.Ala134=)
c.378C= (p.Ala126=)
1g.45508939C>GCA417881459MMACHCc.573C>G (p.Ala191=)
c.402C>G (p.Ala134=)
c.378C>G (p.Ala126=)
1g.45508939C>TCA827798MMACHCc.573C>T (p.Ala191=)
c.402C>T (p.Ala134=)
c.378C>T (p.Ala126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508940C>ACA340133504MMACHCc.574C>A (p.Leu192Ile)
c.403C>A (p.Leu135Ile)
c.379C>A (p.Leu127Ile)
1g.45508940C=CA2473783720MMACHCc.574C= (p.Leu192=)
c.403C= (p.Leu135=)
c.379C= (p.Leu127=)
1g.45508940C>GCA340133506MMACHCc.574C>G (p.Leu192Val)
c.403C>G (p.Leu135Val)
c.379C>G (p.Leu127Val)
 gnomAD v4
1g.45508940C>TCA827799MMACHCc.574C>T (p.Leu192=)
c.403C>T (p.Leu135=)
c.379C>T (p.Leu127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508940_45508941delinsCTCA2473783721MMACHCc.574_575delinsCT (p.Leu192=)
c.403_404delinsCT (p.Leu135=)
c.379_380delinsCT (p.Leu127=)
1g.45508941delCA2473783722MMACHCc.575del (p.Leu192HisfsTer18)
c.404del (p.Leu135HisfsTer18)
c.380del (p.Leu127HisfsTer18)
 dbSNP
1g.45508941T>ACA340133509MMACHCc.575T>A (p.Leu192Gln)
c.404T>A (p.Leu135Gln)
c.380T>A (p.Leu127Gln)
1g.45508941T>CCA340133511MMACHCc.575T>C (p.Leu192Pro)
c.404T>C (p.Leu135Pro)
c.380T>C (p.Leu127Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.45508941T>GCA340133513MMACHCc.575T>G (p.Leu192Arg)
c.404T>G (p.Leu135Arg)
c.380T>G (p.Leu127Arg)
1g.45508941T=CA2473783723MMACHCc.575T= (p.Leu192=)
c.404T= (p.Leu135=)
c.380T= (p.Leu127=)
1g.45508942A=CA2473783724MMACHCc.576A= (p.Leu192=)
c.405A= (p.Leu135=)
c.381A= (p.Leu127=)
1g.45508942A>CCA417881461MMACHCc.576A>C (p.Leu192=)
c.405A>C (p.Leu135=)
c.381A>C (p.Leu127=)
1g.45508942A>GCA417881462MMACHCc.576A>G (p.Leu192=)
c.405A>G (p.Leu135=)
c.381A>G (p.Leu127=)
 dbSNP gnomAD v2 gnomAD v4
1g.45508942A>TCA417881463MMACHCc.576A>T (p.Leu192=)
c.405A>T (p.Leu135=)
c.381A>T (p.Leu127=)
1g.45508943C>ACA340133514MMACHCc.577C>A (p.Leu193Ile)
c.406C>A (p.Leu136Ile)
c.382C>A (p.Leu128Ile)
 gnomAD v4
1g.45508943C=CA2473783725MMACHCc.577C= (p.Leu193=)
c.406C= (p.Leu136=)
c.382C= (p.Leu128=)
1g.45508943C>GCA340133518MMACHCc.577C>G (p.Leu193Val)
c.406C>G (p.Leu136Val)
c.382C>G (p.Leu128Val)
1g.45508943C>TCA340133516MMACHCc.577C>T (p.Leu193Phe)
c.406C>T (p.Leu136Phe)
c.382C>T (p.Leu128Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508944T>ACA340133520MMACHCc.578T>A (p.Leu193His)
c.407T>A (p.Leu136His)
c.383T>A (p.Leu128His)
1g.45508944T>CCA340133521MMACHCc.578T>C (p.Leu193Pro)
c.407T>C (p.Leu136Pro)
c.383T>C (p.Leu128Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508944T>GCA340133523MMACHCc.578T>G (p.Leu193Arg)
c.407T>G (p.Leu136Arg)
c.383T>G (p.Leu128Arg)
 gnomAD v4
1g.45508944T=CA2473783726MMACHCc.578T= (p.Leu193=)
c.407T= (p.Leu136=)
c.383T= (p.Leu128=)
1g.45508945C>ACA417881468MMACHCc.579C>A (p.Leu193=)
c.408C>A (p.Leu136=)
c.384C>A (p.Leu128=)
1g.45508945C=CA2473783727MMACHCc.579C= (p.Leu193=)
c.408C= (p.Leu136=)
c.384C= (p.Leu128=)
1g.45508945C>GCA417881469MMACHCc.579C>G (p.Leu193=)
c.408C>G (p.Leu136=)
c.384C>G (p.Leu128=)
 ClinVar dbSNP gnomAD v4
1g.45508945C>TCA827800MMACHCc.579C>T (p.Leu193=)
c.408C>T (p.Leu136=)
c.384C>T (p.Leu128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508946G>ACA827801MMACHCc.580G>A (p.Glu194Lys)
c.409G>A (p.Glu137Lys)
c.385G>A (p.Glu129Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508946G>CCA340133528MMACHCc.580G>C (p.Glu194Gln)
c.409G>C (p.Glu137Gln)
c.385G>C (p.Glu129Gln)
1g.45508946G=CA2473783728MMACHCc.580G= (p.Glu194=)
c.409G= (p.Glu137=)
c.385G= (p.Glu129=)
1g.45508946G>TCA340133530MMACHCc.580G>T (p.Glu194Ter)
c.409G>T (p.Glu137Ter)
c.385G>T (p.Glu129Ter)
 dbSNP gnomAD v4
1g.45508947A>CCA340133532MMACHCc.581A>C (p.Glu194Ala)
c.410A>C (p.Glu137Ala)
c.386A>C (p.Glu129Ala)
1g.45508947A>GCA340133534MMACHCc.581A>G (p.Glu194Gly)
c.410A>G (p.Glu137Gly)
c.386A>G (p.Glu129Gly)
1g.45508947A>TCA340133536MMACHCc.581A>T (p.Glu194Val)
c.410A>T (p.Glu137Val)
c.386A>T (p.Glu129Val)
1g.45508948A>CCA340133538MMACHCc.582A>C (p.Glu194Asp)
c.411A>C (p.Glu137Asp)
c.387A>C (p.Glu129Asp)
1g.45508948A>GCA417881474MMACHCc.582A>G (p.Glu194=)
c.411A>G (p.Glu137=)
c.387A>G (p.Glu129=)
1g.45508948A>TCA340133541MMACHCc.582A>T (p.Glu194Asp)
c.411A>T (p.Glu137Asp)
c.387A>T (p.Glu129Asp)
1g.45508949G>ACA340133548MMACHCc.583G>A (p.Gly195Ser)
c.412G>A (p.Gly138Ser)
c.388G>A (p.Gly130Ser)
1g.45508949G>CCA340133544MMACHCc.583G>C (p.Gly195Arg)
c.412G>C (p.Gly138Arg)
c.388G>C (p.Gly130Arg)
1g.45508949G>TCA340133546MMACHCc.583G>T (p.Gly195Cys)
c.412G>T (p.Gly138Cys)
c.388G>T (p.Gly130Cys)
1g.45508950G>ACA340133550MMACHCc.584G>A (p.Gly195Asp)
c.413G>A (p.Gly138Asp)
c.389G>A (p.Gly130Asp)
1g.45508950G>CCA827802MMACHCc.584G>C (p.Gly195Ala)
c.413G>C (p.Gly138Ala)
c.389G>C (p.Gly130Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508950G=CA2473783729MMACHCc.584G= (p.Gly195=)
c.413G= (p.Gly138=)
c.389G= (p.Gly130=)
1g.45508950G>TCA340133553MMACHCc.584G>T (p.Gly195Val)
c.413G>T (p.Gly138Val)
c.389G>T (p.Gly130Val)
1g.45508951C>ACA417881479MMACHCc.585C>A (p.Gly195=)
c.414C>A (p.Gly138=)
c.390C>A (p.Gly130=)
1g.45508951C=CA2473783730MMACHCc.585C= (p.Gly195=)
c.414C= (p.Gly138=)
c.390C= (p.Gly130=)
1g.45508951C>GCA417881481MMACHCc.585C>G (p.Gly195=)
c.414C>G (p.Gly138=)
c.390C>G (p.Gly130=)
1g.45508951C>TCA417881482MMACHCc.585C>T (p.Gly195=)
c.414C>T (p.Gly138=)
c.390C>T (p.Gly130=)
 dbSNP
1g.45508952T>ACA340133556MMACHCc.586T>A (p.Phe196Ile)
c.415T>A (p.Phe139Ile)
c.391T>A (p.Phe131Ile)
1g.45508952T>CCA340133557MMACHCc.586T>C (p.Phe196Leu)
c.415T>C (p.Phe139Leu)
c.391T>C (p.Phe131Leu)
1g.45508952T>GCA340133559MMACHCc.586T>G (p.Phe196Val)
c.415T>G (p.Phe139Val)
c.391T>G (p.Phe131Val)
1g.45508952_45508953insGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCCA2645391259MMACHCc.586_587insGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCC (p.Phe196Ter)
c.415_416insGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCC (p.Phe139Ter)
c.391_392insGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCC (p.Phe131Ter)
 gnomAD v4
1g.45508953T>ACA340133561MMACHCc.587T>A (p.Phe196Tyr)
c.416T>A (p.Phe139Tyr)
c.392T>A (p.Phe131Tyr)
1g.45508953T>CCA21829779MMACHCc.587T>C (p.Phe196Ser)
c.416T>C (p.Phe139Ser)
c.392T>C (p.Phe131Ser)
 dbSNP
1g.45508953T>GCA340133563MMACHCc.587T>G (p.Phe196Cys)
c.416T>G (p.Phe139Cys)
c.392T>G (p.Phe131Cys)
1g.45508953T=CA2473783731MMACHCc.587T= (p.Phe196=)
c.416T= (p.Phe139=)
c.392T= (p.Phe131=)
1g.45508954C>ACA340133564MMACHCc.588C>A (p.Phe196Leu)
c.417C>A (p.Phe139Leu)
c.393C>A (p.Phe131Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.45508954C=CA2473783732MMACHCc.588C= (p.Phe196=)
c.417C= (p.Phe139=)
c.393C= (p.Phe131=)
1g.45508954C>GCA340133565MMACHCc.588C>G (p.Phe196Leu)
c.417C>G (p.Phe139Leu)
c.393C>G (p.Phe131Leu)
1g.45508954C>TCA417881483MMACHCc.588C>T (p.Phe196=)
c.417C>T (p.Phe139=)
c.393C>T (p.Phe131=)
 ClinVar gnomAD v4
1g.45508955A=CA2473783733MMACHCc.589A= (p.Asn197=)
c.418A= (p.Asn140=)
c.394A= (p.Asn132=)
1g.45508955A>CCA340133570MMACHCc.589A>C (p.Asn197His)
c.418A>C (p.Asn140His)
c.394A>C (p.Asn132His)
1g.45508955A>GCA340133568MMACHCc.589A>G (p.Asn197Asp)
c.418A>G (p.Asn140Asp)
c.394A>G (p.Asn132Asp)
 dbSNP gnomAD v4
1g.45508955A>TCA340133566MMACHCc.589A>T (p.Asn197Tyr)
c.418A>T (p.Asn140Tyr)
c.394A>T (p.Asn132Tyr)
 gnomAD v4
1g.45508956A=CA2473783734MMACHCc.590A= (p.Asn197=)
c.419A= (p.Asn140=)
c.395A= (p.Asn132=)
1g.45508956A>CCA340133572MMACHCc.590A>C (p.Asn197Thr)
c.419A>C (p.Asn140Thr)
c.395A>C (p.Asn132Thr)
1g.45508956A>GCA340133574MMACHCc.590A>G (p.Asn197Ser)
c.419A>G (p.Asn140Ser)
c.395A>G (p.Asn132Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508956A>TCA340133573MMACHCc.590A>T (p.Asn197Ile)
c.419A>T (p.Asn140Ile)
c.395A>T (p.Asn132Ile)
 COSMIC
1g.45508957T>ACA340133577MMACHCc.591T>A (p.Asn197Lys)
c.420T>A (p.Asn140Lys)
c.396T>A (p.Asn132Lys)
1g.45508957T>CCA417881490MMACHCc.591T>C (p.Asn197=)
c.420T>C (p.Asn140=)
c.396T>C (p.Asn132=)
 ClinVar dbSNP gnomAD v4
1g.45508957T>GCA340133578MMACHCc.591T>G (p.Asn197Lys)
c.420T>G (p.Asn140Lys)
c.396T>G (p.Asn132Lys)
1g.45508957T=CA2473783735MMACHCc.591T= (p.Asn197=)
c.420T= (p.Asn140=)
c.396T= (p.Asn132=)
1g.45508958T>ACA340133580MMACHCc.592T>A (p.Phe198Ile)
c.421T>A (p.Phe141Ile)
c.397T>A (p.Phe133Ile)
1g.45508958T>CCA340133581MMACHCc.592T>C (p.Phe198Leu)
c.421T>C (p.Phe141Leu)
c.397T>C (p.Phe133Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.45508958T>GCA340133583MMACHCc.592T>G (p.Phe198Val)
c.421T>G (p.Phe141Val)
c.397T>G (p.Phe133Val)
1g.45508958T=CA2473783736MMACHCc.592T= (p.Phe198=)
c.421T= (p.Phe141=)
c.397T= (p.Phe133=)
1g.45508959T>ACA340133586MMACHCc.593T>A (p.Phe198Tyr)
c.422T>A (p.Phe141Tyr)
c.398T>A (p.Phe133Tyr)
1g.45508959T>CCA340133588MMACHCc.593T>C (p.Phe198Ser)
c.422T>C (p.Phe141Ser)
c.398T>C (p.Phe133Ser)
 dbSNP gnomAD v4
1g.45508959T>GCA340133590MMACHCc.593T>G (p.Phe198Cys)
c.422T>G (p.Phe141Cys)
c.398T>G (p.Phe133Cys)
1g.45508959T=CA2473783737MMACHCc.593T= (p.Phe198=)
c.422T= (p.Phe141=)
c.398T= (p.Phe133=)
1g.45508960C>ACA340133592MMACHCc.594C>A (p.Phe198Leu)
c.423C>A (p.Phe141Leu)
c.399C>A (p.Phe133Leu)
1g.45508960C>GCA340133594MMACHCc.594C>G (p.Phe198Leu)
c.423C>G (p.Phe141Leu)
c.399C>G (p.Phe133Leu)
1g.45508960C>TCA417881492MMACHCc.594C>T (p.Phe198=)
c.423C>T (p.Phe141=)
c.399C>T (p.Phe133=)
1g.45508961C>ACA340133597MMACHCc.595C>A (p.His199Asn)
c.424C>A (p.His142Asn)
c.400C>A (p.His134Asn)
1g.45508961C=CA2473783738MMACHCc.595C= (p.His199=)
c.424C= (p.His142=)
c.400C= (p.His134=)
1g.45508961C>GCA340133599MMACHCc.595C>G (p.His199Asp)
c.424C>G (p.His142Asp)
c.400C>G (p.His134Asp)
1g.45508961C>TCA21829782MMACHCc.595C>T (p.His199Tyr)
c.424C>T (p.His142Tyr)
c.400C>T (p.His134Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.45508962A>CCA340133604MMACHCc.596A>C (p.His199Pro)
c.425A>C (p.His142Pro)
c.401A>C (p.His134Pro)
1g.45508962A>GCA340133601MMACHCc.596A>G (p.His199Arg)
c.425A>G (p.His142Arg)
c.401A>G (p.His134Arg)
1g.45508962A>TCA340133603MMACHCc.596A>T (p.His199Leu)
c.425A>T (p.His142Leu)
c.401A>T (p.His134Leu)
1g.45508963C>ACA340133606MMACHCc.597C>A (p.His199Gln)
c.426C>A (p.His142Gln)
c.402C>A (p.His134Gln)
 dbSNP
1g.45508963C=CA2473783739MMACHCc.597C= (p.His199=)
c.426C= (p.His142=)
c.402C= (p.His134=)
1g.45508963C>GCA340133608MMACHCc.597C>G (p.His199Gln)
c.426C>G (p.His142Gln)
c.402C>G (p.His134Gln)
1g.45508963C>TCA417881499MMACHCc.597C>T (p.His199=)
c.426C>T (p.His142=)
c.402C>T (p.His134=)
 dbSNP gnomAD v2 gnomAD v4
1g.45508964T>ACA340133610MMACHCc.598T>A (p.Trp200Arg)
c.427T>A (p.Trp143Arg)
c.403T>A (p.Trp135Arg)
1g.45508964T>CCA827803MMACHCc.598T>C (p.Trp200Arg)
c.427T>C (p.Trp143Arg)
c.403T>C (p.Trp135Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508964T>GCA340133613MMACHCc.598T>G (p.Trp200Gly)
c.427T>G (p.Trp143Gly)
c.403T>G (p.Trp135Gly)
1g.45508964T=CA2473783740MMACHCc.598T= (p.Trp200=)
c.427T= (p.Trp143=)
c.403T= (p.Trp135=)
1g.45508965G>ACA340133616MMACHCc.599G>A (p.Trp200Ter)
c.428G>A (p.Trp143Ter)
c.404G>A (p.Trp135Ter)
 ClinVar dbSNP
1g.45508965G>CCA340133617MMACHCc.599G>C (p.Trp200Ser)
c.428G>C (p.Trp143Ser)
c.404G>C (p.Trp135Ser)
1g.45508965G=CA2473783741MMACHCc.599G= (p.Trp200=)
c.428G= (p.Trp143=)
c.404G= (p.Trp135=)
1g.45508965G>TCA340133619MMACHCc.599G>T (p.Trp200Leu)
c.428G>T (p.Trp143Leu)
c.404G>T (p.Trp135Leu)
1g.45508966delCA2695198019MMACHCc.600del (p.Trp200CysfsTer10)
c.429del (p.Trp143CysfsTer10)
c.405del (p.Trp135CysfsTer10)
 ClinVar
1g.45508966G>ACA312736MMACHCc.600G>A (p.Trp200Ter)
c.429G>A (p.Trp143Ter)
c.405G>A (p.Trp135Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508966G>CCA340133622MMACHCc.600G>C (p.Trp200Cys)
c.429G>C (p.Trp143Cys)
c.405G>C (p.Trp135Cys)
1g.45508966G=CA2473783742MMACHCc.600G= (p.Trp200=)
c.429G= (p.Trp143=)
c.405G= (p.Trp135=)
1g.45508966G>TCA340133623MMACHCc.600G>T (p.Trp200Cys)
c.429G>T (p.Trp143Cys)
c.405G>T (p.Trp135Cys)
1g.45508967C>ACA340133626MMACHCc.601C>A (p.Arg201Ser)
c.430C>A (p.Arg144Ser)
c.406C>A (p.Arg136Ser)
 gnomAD v4
1g.45508967C=CA2473783743MMACHCc.601C= (p.Arg201=)
c.430C= (p.Arg144=)
c.406C= (p.Arg136=)
1g.45508967C>GCA340133628MMACHCc.601C>G (p.Arg201Gly)
c.430C>G (p.Arg144Gly)
c.406C>G (p.Arg136Gly)
1g.45508967C>TCA827804MMACHCc.601C>T (p.Arg201Cys)
c.430C>T (p.Arg144Cys)
c.406C>T (p.Arg136Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508967_45508969delinsCGTCA2473783744MMACHCc.601_603delinsCGT (p.Arg201=)
c.430_432delinsCGT (p.Arg144=)
c.406_408delinsCGT (p.Arg136=)
1g.45508968G>ACA827805MMACHCc.602G>A (p.Arg201His)
c.431G>A (p.Arg144His)
c.407G>A (p.Arg136His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508968G>CCA340133631MMACHCc.602G>C (p.Arg201Pro)
c.431G>C (p.Arg144Pro)
c.407G>C (p.Arg136Pro)
1g.45508968G=CA1143422434MMACHCc.602G= (p.Arg201=)
c.431G= (p.Arg144=)
c.407G= (p.Arg136=)
1g.45508968G>TCA340133634MMACHCc.602G>T (p.Arg201Leu)
c.431G>T (p.Arg144Leu)
c.407G>T (p.Arg136Leu)
1g.45508969_45508970delCA1139656103MMACHCc.603_604del (p.Asp202LeufsTer?)
c.432_433del (p.Asp145LeufsTer?)
c.408_409del (p.Asp137LeufsTer?)
 ClinVar dbSNP
1g.45508969T>ACA417881503MMACHCc.603T>A (p.Arg201=)
c.432T>A (p.Arg144=)
c.408T>A (p.Arg136=)
 gnomAD v4
1g.45508969T>CCA223193MMACHCc.603T>C (p.Arg201=)
c.432T>C (p.Arg144=)
c.408T>C (p.Arg136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508969T>GCA417881505MMACHCc.603T>G (p.Arg201=)
c.432T>G (p.Arg144=)
c.408T>G (p.Arg136=)
1g.45508969T=CA1144232804MMACHCc.603T= (p.Arg201=)
c.432T= (p.Arg144=)
c.408T= (p.Arg136=)
1g.45508969dupCA2473783745MMACHCc.603dup (p.Asp202Ter)
c.432dup (p.Asp145Ter)
c.408dup (p.Asp137Ter)
 dbSNP
1g.45508970G>ACA340133636MMACHCc.604G>A (p.Asp202Asn)
c.433G>A (p.Asp145Asn)
c.409G>A (p.Asp137Asn)
1g.45508970G>CCA340133638MMACHCc.604G>C (p.Asp202His)
c.433G>C (p.Asp145His)
c.409G>C (p.Asp137His)
 dbSNP
1g.45508970G>TCA340133640MMACHCc.604G>T (p.Asp202Tyr)
c.433G>T (p.Asp145Tyr)
c.409G>T (p.Asp137Tyr)
 gnomAD v4
1g.45508971A=CA2473783746MMACHCc.605A= (p.Asp202=)
c.434A= (p.Asp145=)
c.410A= (p.Asp137=)
1g.45508971A>CCA340133643MMACHCc.605A>C (p.Asp202Ala)
c.434A>C (p.Asp145Ala)
c.410A>C (p.Asp137Ala)
1g.45508971A>GCA340133645MMACHCc.605A>G (p.Asp202Gly)
c.434A>G (p.Asp145Gly)
c.410A>G (p.Asp137Gly)
1g.45508971A>TCA340133647MMACHCc.605A>T (p.Asp202Val)
c.434A>T (p.Asp145Val)
c.410A>T (p.Asp137Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508972_45508980delCA2586966646MMACHCc.606_614del (p.Trp203_Tyr205del)
c.435_443del (p.Trp146_Tyr148del)
c.411_419del (p.Trp138_Tyr140del)
1g.45508972T>ACA340133649MMACHCc.606T>A (p.Asp202Glu)
c.435T>A (p.Asp145Glu)
c.411T>A (p.Asp137Glu)
1g.45508972T>CCA827806MMACHCc.606T>C (p.Asp202=)
c.435T>C (p.Asp145=)
c.411T>C (p.Asp137=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508972T>GCA340133652MMACHCc.606T>G (p.Asp202Glu)
c.435T>G (p.Asp145Glu)
c.411T>G (p.Asp137Glu)
1g.45508972T=CA1149048708MMACHCc.606T= (p.Asp202=)
c.435T= (p.Asp145=)
c.411T= (p.Asp137=)
1g.45508973T>ACA340133657MMACHCc.607T>A (p.Trp203Arg)
c.436T>A (p.Trp146Arg)
c.412T>A (p.Trp138Arg)
1g.45508973T>CCA340133655MMACHCc.607T>C (p.Trp203Arg)
c.436T>C (p.Trp146Arg)
c.412T>C (p.Trp138Arg)
 dbSNP gnomAD v4
1g.45508973T>GCA340133653MMACHCc.607T>G (p.Trp203Gly)
c.436T>G (p.Trp146Gly)
c.412T>G (p.Trp138Gly)
1g.45508974G>ACA223195MMACHCc.608G>A (p.Trp203Ter)
c.437G>A (p.Trp146Ter)
c.413G>A (p.Trp138Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508974G>CCA340133658MMACHCc.608G>C (p.Trp203Ser)
c.437G>C (p.Trp146Ser)
c.413G>C (p.Trp138Ser)
1g.45508974G=CA1144232805MMACHCc.608G= (p.Trp203=)
c.437G= (p.Trp146=)
c.413G= (p.Trp138=)
1g.45508974G>TCA340133660MMACHCc.608G>T (p.Trp203Leu)
c.437G>T (p.Trp146Leu)
c.413G>T (p.Trp138Leu)
1g.45508975G>ACA259906MMACHCc.609G>A (p.Trp203Ter)
c.438G>A (p.Trp146Ter)
c.414G>A (p.Trp138Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508975G>CCA340133662MMACHCc.609G>C (p.Trp203Cys)
c.438G>C (p.Trp146Cys)
c.414G>C (p.Trp138Cys)
1g.45508975G=CA1148224331MMACHCc.609G= (p.Trp203=)
c.438G= (p.Trp146=)
c.414G= (p.Trp138=)
1g.45508975G>TCA340133664MMACHCc.609G>T (p.Trp203Cys)
c.438G>T (p.Trp146Cys)
c.414G>T (p.Trp138Cys)
1g.45508976A>CCA340133666MMACHCc.610A>C (p.Thr204Pro)
c.439A>C (p.Thr147Pro)
c.415A>C (p.Thr139Pro)
1g.45508976A>GCA340133667MMACHCc.610A>G (p.Thr204Ala)
c.439A>G (p.Thr147Ala)
c.415A>G (p.Thr139Ala)
1g.45508976A>TCA340133669MMACHCc.610A>T (p.Thr204Ser)
c.439A>T (p.Thr147Ser)
c.415A>T (p.Thr139Ser)
1g.45508977C>ACA340133671MMACHCc.611C>A (p.Thr204Asn)
c.440C>A (p.Thr147Asn)
c.416C>A (p.Thr139Asn)
1g.45508977C=CA2473783747MMACHCc.611C= (p.Thr204=)
c.440C= (p.Thr147=)
c.416C= (p.Thr139=)
1g.45508977C>GCA340133673MMACHCc.611C>G (p.Thr204Ser)
c.440C>G (p.Thr147Ser)
c.416C>G (p.Thr139Ser)
1g.45508977C>TCA340133675MMACHCc.611C>T (p.Thr204Ile)
c.440C>T (p.Thr147Ile)
c.416C>T (p.Thr139Ile)
 dbSNP gnomAD v4
1g.45508978T>ACA417881510MMACHCc.612T>A (p.Thr204=)
c.441T>A (p.Thr147=)
c.417T>A (p.Thr139=)
 dbSNP
1g.45508978T>CCA417881511MMACHCc.612T>C (p.Thr204=)
c.441T>C (p.Thr147=)
c.417T>C (p.Thr139=)
1g.45508978T>GCA417881512MMACHCc.612T>G (p.Thr204=)
c.441T>G (p.Thr147=)
c.417T>G (p.Thr139=)
1g.45508978T=CA2473783748MMACHCc.612T= (p.Thr204=)
c.441T= (p.Thr147=)
c.417T= (p.Thr139=)
1g.45508979T>ACA340133680MMACHCc.613T>A (p.Tyr205Asn)
c.442T>A (p.Tyr148Asn)
c.418T>A (p.Tyr140Asn)
1g.45508979T>CCA340133679MMACHCc.613T>C (p.Tyr205His)
c.442T>C (p.Tyr148His)
c.418T>C (p.Tyr140His)
1g.45508979T>GCA340133677MMACHCc.613T>G (p.Tyr205Asp)
c.442T>G (p.Tyr148Asp)
c.418T>G (p.Tyr140Asp)
1g.45508979T=CA2473783749MMACHCc.613T= (p.Tyr205=)
c.442T= (p.Tyr148=)
c.418T= (p.Tyr140=)
1g.45508980A>CCA340133682MMACHCc.614A>C (p.Tyr205Ser)
c.443A>C (p.Tyr148Ser)
c.419A>C (p.Tyr140Ser)
1g.45508980A>GCA340133686MMACHCc.614A>G (p.Tyr205Cys)
c.443A>G (p.Tyr148Cys)
c.419A>G (p.Tyr140Cys)
 gnomAD v4
1g.45508980A>TCA340133684MMACHCc.614A>T (p.Tyr205Phe)
c.443A>T (p.Tyr148Phe)
c.419A>T (p.Tyr140Phe)
1g.45508980dupCA736191778MMACHCc.614dup (p.Tyr205Ter)
c.443dup (p.Tyr148Ter)
c.419dup (p.Tyr140Ter)
 ClinVar dbSNP
1g.45508980_45508981delinsACCA2473783750MMACHCc.614_615delinsAC (p.Tyr205=)
c.443_444delinsAC (p.Tyr148=)
c.419_420delinsAC (p.Tyr140=)

Number of alleles fetched