Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018403dupCA1053924HJVc.960dup (p.Cys321ValfsTer21)
c.282dup (p.Cys95ValfsTer21)
c.621dup (p.Cys208ValfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018403delCA526253952HJVc.960del (p.Cys321AlafsTer18)
c.282del (p.Cys95AlafsTer18)
c.621del (p.Cys208AlafsTer18)
 dbSNP gnomAD v2 gnomAD v4
1g.146018399C>ACA252249HJVc.959G>T (p.Gly320Val)
c.281G>T (p.Gly94Val)
c.620G>T (p.Gly207Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018399C=CA1140886749HJVc.959G= (p.Gly320=)
c.281G= (p.Gly94=)
c.620G= (p.Gly207=)
1g.146018399C>GCA342135108HJVc.959G>C (p.Gly320Ala)
c.281G>C (p.Gly94Ala)
c.620G>C (p.Gly207Ala)
 gnomAD v4
1g.146018399C>TCA342135102HJVc.959G>A (p.Gly320Glu)
c.281G>A (p.Gly94Glu)
c.620G>A (p.Gly207Glu)
 gnomAD v4
1g.146018399_146018400insACA2745933938HJVc.958_959insT (p.Gly320ValfsTer22)
c.280_281insT (p.Gly94ValfsTer22)
c.619_620insT (p.Gly207ValfsTer22)
1g.146018400C>ACA1053926HJVc.958G>T (p.Gly320Trp)
c.280G>T (p.Gly94Trp)
c.619G>T (p.Gly207Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018400C=CA1198820952HJVc.958G= (p.Gly320=)
c.280G= (p.Gly94=)
c.619G= (p.Gly207=)
1g.146018400C>GCA29823639HJVc.958G>C (p.Gly320Arg)
c.280G>C (p.Gly94Arg)
c.619G>C (p.Gly207Arg)
1g.146018400C>TCA29823642HJVc.958G>A (p.Gly320Arg)
c.280G>A (p.Gly94Arg)
c.619G>A (p.Gly207Arg)
 gnomAD v4
1g.146018401C>ACA420603383HJVc.957G>T (p.Gly319=)
c.279G>T (p.Gly93=)
c.618G>T (p.Gly206=)
1g.146018401C>GCA420603384HJVc.957G>C (p.Gly319=)
c.279G>C (p.Gly93=)
c.618G>C (p.Gly206=)
1g.146018401C>TCA420603382HJVc.957G>A (p.Gly319=)
c.279G>A (p.Gly93=)
c.618G>A (p.Gly206=)
1g.146018402_146018403insACCCCAAACACACCCA2745933939HJVc.957_958insTGTGTTTGGGGTGG (p.Gly320CysfsTer24)
c.279_280insTGTGTTTGGGGTGG (p.Gly94CysfsTer24)
c.618_619insTGTGTTTGGGGTGG (p.Gly207CysfsTer24)
1g.146018402C>ACA342135136HJVc.956G>T (p.Gly319Val)
c.278G>T (p.Gly93Val)
c.617G>T (p.Gly206Val)
1g.146018402C=CA1141668450HJVc.956G= (p.Gly319=)
c.278G= (p.Gly93=)
c.617G= (p.Gly206=)
1g.146018402C>GCA1053925HJVc.956G>C (p.Gly319Ala)
c.278G>C (p.Gly93Ala)
c.617G>C (p.Gly206Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018402C>TCA342135140HJVc.956G>A (p.Gly319Glu)
c.278G>A (p.Gly93Glu)
c.617G>A (p.Gly206Glu)
 COSMIC
1g.146018402_146018403insGCA342135141HJVc.955_956insC (p.Gly319AlafsTer23)
c.277_278insC (p.Gly93AlafsTer23)
c.616_617insC (p.Gly206AlafsTer23)
1g.146018403C>ACA342135149HJVc.955G>T (p.Gly319Trp)
c.277G>T (p.Gly93Trp)
c.616G>T (p.Gly206Trp)
1g.146018403C=CA1198820953HJVc.955G= (p.Gly319=)
c.277G= (p.Gly93=)
c.616G= (p.Gly206=)
1g.146018403C>GCA342135148HJVc.955G>C (p.Gly319Arg)
c.277G>C (p.Gly93Arg)
c.616G>C (p.Gly206Arg)
1g.146018403C>TCA342135143HJVc.955G>A (p.Gly319Arg)
c.277G>A (p.Gly93Arg)
c.616G>A (p.Gly206Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.146018403_146018404insGCA29823652HJVc.954_955insC (p.Gly319ArgfsTer23)
c.276_277insC (p.Gly93ArgfsTer23)
c.615_616insC (p.Gly206ArgfsTer23)
1g.146018404A=CA1198820954HJVc.954T= (p.Val318=)
c.276T= (p.Val92=)
c.615T= (p.Val205=)
1g.146018404A>CCA420603389HJVc.954T>G (p.Val318=)
c.276T>G (p.Val92=)
c.615T>G (p.Val205=)
1g.146018404A>GCA420603388HJVc.954T>C (p.Val318=)
c.276T>C (p.Val92=)
c.615T>C (p.Val205=)
 gnomAD v4
1g.146018404A>TCA420603390HJVc.954T>A (p.Val318=)
c.276T>A (p.Val92=)
c.615T>A (p.Val205=)
 dbSNP gnomAD v4
1g.146018405A=CA1198820955HJVc.953T= (p.Val318=)
c.275T= (p.Val92=)
c.614T= (p.Val205=)
1g.146018405A>CCA342135167HJVc.953T>G (p.Val318Gly)
c.275T>G (p.Val92Gly)
c.614T>G (p.Val205Gly)
1g.146018405A>GCA342135173HJVc.953T>C (p.Val318Ala)
c.275T>C (p.Val92Ala)
c.614T>C (p.Val205Ala)
 dbSNP gnomAD v4
1g.146018405A>TCA342135180HJVc.953T>A (p.Val318Asp)
c.275T>A (p.Val92Asp)
c.614T>A (p.Val205Asp)
1g.146018406C>ACA342135184HJVc.952G>T (p.Val318Phe)
c.274G>T (p.Val92Phe)
c.613G>T (p.Val205Phe)
1g.146018406C>GCA342135188HJVc.952G>C (p.Val318Leu)
c.274G>C (p.Val92Leu)
c.613G>C (p.Val205Leu)
1g.146018406C>TCA342135191HJVc.952G>A (p.Val318Ile)
c.274G>A (p.Val92Ile)
c.613G>A (p.Val205Ile)
 gnomAD v4
1g.146018407A>CCA342135197HJVc.951T>G (p.Cys317Trp)
c.273T>G (p.Cys91Trp)
c.612T>G (p.Cys204Trp)
1g.146018407A>GCA420603395HJVc.951T>C (p.Cys317=)
c.273T>C (p.Cys91=)
c.612T>C (p.Cys204=)
1g.146018407A>TCA342135215HJVc.951T>A (p.Cys317Ter)
c.273T>A (p.Cys91Ter)
c.612T>A (p.Cys204Ter)
1g.146018408C>ACA342135227HJVc.950G>T (p.Cys317Phe)
c.272G>T (p.Cys91Phe)
c.611G>T (p.Cys204Phe)
1g.146018408C=CA1198820956HJVc.950G= (p.Cys317=)
c.272G= (p.Cys91=)
c.611G= (p.Cys204=)
1g.146018408C>GCA342135226HJVc.950G>C (p.Cys317Ser)
c.272G>C (p.Cys91Ser)
c.611G>C (p.Cys204Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018408C>TCA342135224HJVc.950G>A (p.Cys317Tyr)
c.272G>A (p.Cys91Tyr)
c.611G>A (p.Cys204Tyr)
 ClinVar dbSNP
1g.146018409A>CCA342135229HJVc.949T>G (p.Cys317Gly)
c.271T>G (p.Cys91Gly)
c.610T>G (p.Cys204Gly)
1g.146018409A>GCA342135245HJVc.949T>C (p.Cys317Arg)
c.271T>C (p.Cys91Arg)
c.610T>C (p.Cys204Arg)
1g.146018409A>TCA342135244HJVc.949T>A (p.Cys317Ser)
c.271T>A (p.Cys91Ser)
c.610T>A (p.Cys204Ser)
1g.146018410G>ACA420603400HJVc.948C>T (p.Leu316=)
c.270C>T (p.Leu90=)
c.609C>T (p.Leu203=)
1g.146018410G>CCA420603401HJVc.948C>G (p.Leu316=)
c.270C>G (p.Leu90=)
c.609C>G (p.Leu203=)
1g.146018410G>TCA420603399HJVc.948C>A (p.Leu316=)
c.270C>A (p.Leu90=)
c.609C>A (p.Leu203=)
1g.146018411A>CCA342135246HJVc.947T>G (p.Leu316Arg)
c.269T>G (p.Leu90Arg)
c.608T>G (p.Leu203Arg)
1g.146018411A>GCA342135248HJVc.947T>C (p.Leu316Pro)
c.269T>C (p.Leu90Pro)
c.608T>C (p.Leu203Pro)
1g.146018411A>TCA342135247HJVc.947T>A (p.Leu316His)
c.269T>A (p.Leu90His)
c.608T>A (p.Leu203His)
1g.146018412G>ACA342135252HJVc.946C>T (p.Leu316Phe)
c.268C>T (p.Leu90Phe)
c.607C>T (p.Leu203Phe)
1g.146018412G>CCA342135255HJVc.946C>G (p.Leu316Val)
c.268C>G (p.Leu90Val)
c.607C>G (p.Leu203Val)
1g.146018412G>TCA342135257HJVc.946C>A (p.Leu316Ile)
c.268C>A (p.Leu90Ile)
c.607C>A (p.Leu203Ile)
1g.146018413C>ACA342135258HJVc.945G>T (p.Gln315His)
c.267G>T (p.Gln89His)
c.606G>T (p.Gln202His)
1g.146018413C=CA1198820957HJVc.945G= (p.Gln315=)
c.267G= (p.Gln89=)
c.606G= (p.Gln202=)
1g.146018413C>GCA342135259HJVc.945G>C (p.Gln315His)
c.267G>C (p.Gln89His)
c.606G>C (p.Gln202His)
1g.146018413C>TCA420603404HJVc.945G>A (p.Gln315=)
c.267G>A (p.Gln89=)
c.606G>A (p.Gln202=)
 dbSNP
1g.146018414T>ACA342135260HJVc.944A>T (p.Gln315Leu)
c.266A>T (p.Gln89Leu)
c.605A>T (p.Gln202Leu)
1g.146018414T>CCA342135261HJVc.944A>G (p.Gln315Arg)
c.266A>G (p.Gln89Arg)
c.605A>G (p.Gln202Arg)
1g.146018414T>GCA342135263HJVc.944A>C (p.Gln315Pro)
c.266A>C (p.Gln89Pro)
c.605A>C (p.Gln202Pro)
1g.146018415G>ACA342135296HJVc.943C>T (p.Gln315Ter)
c.265C>T (p.Gln89Ter)
c.604C>T (p.Gln202Ter)
1g.146018415G>CCA342135300HJVc.943C>G (p.Gln315Glu)
c.265C>G (p.Gln89Glu)
c.604C>G (p.Gln202Glu)
1g.146018415G>TCA342135315HJVc.943C>A (p.Gln315Lys)
c.265C>A (p.Gln89Lys)
c.604C>A (p.Gln202Lys)
1g.146018416C>ACA420603412HJVc.942G>T (p.Leu314=)
c.264G>T (p.Leu88=)
c.603G>T (p.Leu201=)
1g.146018416C>GCA420603411HJVc.942G>C (p.Leu314=)
c.264G>C (p.Leu88=)
c.603G>C (p.Leu201=)
1g.146018416C>TCA420603410HJVc.942G>A (p.Leu314=)
c.264G>A (p.Leu88=)
c.603G>A (p.Leu201=)
 ClinVar dbSNP
1g.146018417A>CCA342135341HJVc.941T>G (p.Leu314Arg)
c.263T>G (p.Leu88Arg)
c.602T>G (p.Leu201Arg)
1g.146018417A>GCA342135328HJVc.941T>C (p.Leu314Pro)
c.263T>C (p.Leu88Pro)
c.602T>C (p.Leu201Pro)
1g.146018417A>TCA342135338HJVc.941T>A (p.Leu314Gln)
c.263T>A (p.Leu88Gln)
c.602T>A (p.Leu201Gln)
1g.146018418G>ACA420603416HJVc.940C>T (p.Leu314=)
c.262C>T (p.Leu88=)
c.601C>T (p.Leu201=)
 ClinVar dbSNP
1g.146018418G>CCA342135347HJVc.940C>G (p.Leu314Val)
c.262C>G (p.Leu88Val)
c.601C>G (p.Leu201Val)
1g.146018418G=CA1198820958HJVc.940C= (p.Leu314=)
c.262C= (p.Leu88=)
c.601C= (p.Leu201=)
1g.146018418G>TCA342135357HJVc.940C>A (p.Leu314Met)
c.262C>A (p.Leu88Met)
c.601C>A (p.Leu201Met)
1g.146018419G>ACA420603421HJVc.939C>T (p.Asp313=)
c.261C>T (p.Asp87=)
c.600C>T (p.Asp200=)
1g.146018419G>CCA342135371HJVc.939C>G (p.Asp313Glu)
c.261C>G (p.Asp87Glu)
c.600C>G (p.Asp200Glu)
1g.146018419G>TCA342135372HJVc.939C>A (p.Asp313Glu)
c.261C>A (p.Asp87Glu)
c.600C>A (p.Asp200Glu)
 gnomAD v4
1g.146018420T>ACA342135373HJVc.938A>T (p.Asp313Val)
c.260A>T (p.Asp87Val)
c.599A>T (p.Asp200Val)
1g.146018420T>CCA342135374HJVc.938A>G (p.Asp313Gly)
c.260A>G (p.Asp87Gly)
c.599A>G (p.Asp200Gly)
1g.146018420T>GCA342135375HJVc.938A>C (p.Asp313Ala)
c.260A>C (p.Asp87Ala)
c.599A>C (p.Asp200Ala)
 dbSNP
1g.146018420T=CA1198820959HJVc.938A= (p.Asp313=)
c.260A= (p.Asp87=)
c.599A= (p.Asp200=)
1g.146018421C>ACA29823658HJVc.937G>T (p.Asp313Tyr)
c.259G>T (p.Asp87Tyr)
c.598G>T (p.Asp200Tyr)
1g.146018421C=CA1198820960HJVc.937G= (p.Asp313=)
c.259G= (p.Asp87=)
c.598G= (p.Asp200=)
1g.146018421C>GCA29823662HJVc.937G>C (p.Asp313His)
c.259G>C (p.Asp87His)
c.598G>C (p.Asp200His)
1g.146018421C>TCA1053923HJVc.937G>A (p.Asp313Asn)
c.259G>A (p.Asp87Asn)
c.598G>A (p.Asp200Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018422C>ACA342135390HJVc.936G>T (p.Gln312His)
c.258G>T (p.Gln86His)
c.597G>T (p.Gln199His)
1g.146018422C=CA1198820961HJVc.936G= (p.Gln312=)
c.258G= (p.Gln86=)
c.597G= (p.Gln199=)
1g.146018422C>GCA342135388HJVc.936G>C (p.Gln312His)
c.258G>C (p.Gln86His)
c.597G>C (p.Gln199His)
1g.146018422C>TCA420603424HJVc.936G>A (p.Gln312=)
c.258G>A (p.Gln86=)
c.597G>A (p.Gln199=)
 dbSNP
1g.146018423T>ACA342135392HJVc.935A>T (p.Gln312Leu)
c.257A>T (p.Gln86Leu)
c.596A>T (p.Gln199Leu)
1g.146018423T>CCA342135395HJVc.935A>G (p.Gln312Arg)
c.257A>G (p.Gln86Arg)
c.596A>G (p.Gln199Arg)
1g.146018423T>GCA342135400HJVc.935A>C (p.Gln312Pro)
c.257A>C (p.Gln86Pro)
c.596A>C (p.Gln199Pro)
1g.146018424G>ACA342135407HJVc.934C>T (p.Gln312Ter)
c.256C>T (p.Gln86Ter)
c.595C>T (p.Gln199Ter)
 ClinVar dbSNP gnomAD v4
1g.146018424G>CCA342135411HJVc.934C>G (p.Gln312Glu)
c.256C>G (p.Gln86Glu)
c.595C>G (p.Gln199Glu)
1g.146018424G=CA1198820962HJVc.934C= (p.Gln312=)
c.256C= (p.Gln86=)
c.595C= (p.Gln199=)
1g.146018424G>TCA342135421HJVc.934C>A (p.Gln312Lys)
c.256C>A (p.Gln86Lys)
c.595C>A (p.Gln199Lys)
1g.146018425T>ACA342135432HJVc.933A>T (p.Glu311Asp)
c.255A>T (p.Glu85Asp)
c.594A>T (p.Glu198Asp)
1g.146018425T>CCA420603428HJVc.933A>G (p.Glu311=)
c.255A>G (p.Glu85=)
c.594A>G (p.Glu198=)
 gnomAD v4
1g.146018425T>GCA342135423HJVc.933A>C (p.Glu311Asp)
c.255A>C (p.Glu85Asp)
c.594A>C (p.Glu198Asp)
1g.146018426T>ACA342135436HJVc.932A>T (p.Glu311Val)
c.254A>T (p.Glu85Val)
c.593A>T (p.Glu198Val)
1g.146018426T>CCA342135438HJVc.932A>G (p.Glu311Gly)
c.254A>G (p.Glu85Gly)
c.593A>G (p.Glu198Gly)
1g.146018426T>GCA342135442HJVc.932A>C (p.Glu311Ala)
c.254A>C (p.Glu85Ala)
c.593A>C (p.Glu198Ala)
1g.146018427C>ACA342135443HJVc.931G>T (p.Glu311Ter)
c.253G>T (p.Glu85Ter)
c.592G>T (p.Glu198Ter)
 gnomAD v4
1g.146018427C>GCA342135444HJVc.931G>C (p.Glu311Gln)
c.253G>C (p.Glu85Gln)
c.592G>C (p.Glu198Gln)
1g.146018427C>TCA342135445HJVc.931G>A (p.Glu311Lys)
c.253G>A (p.Glu85Lys)
c.592G>A (p.Glu198Lys)
1g.146018428A>CCA420603434HJVc.930T>G (p.Ala310=)
c.252T>G (p.Ala84=)
c.591T>G (p.Ala197=)
1g.146018428A>GCA420603435HJVc.930T>C (p.Ala310=)
c.252T>C (p.Ala84=)
c.591T>C (p.Ala197=)
1g.146018428A>TCA420603433HJVc.930T>A (p.Ala310=)
c.252T>A (p.Ala84=)
c.591T>A (p.Ala197=)
1g.146018429G>ACA342135447HJVc.929C>T (p.Ala310Val)
c.251C>T (p.Ala84Val)
c.590C>T (p.Ala197Val)
1g.146018429G>CCA1053922HJVc.929C>G (p.Ala310Gly)
c.251C>G (p.Ala84Gly)
c.590C>G (p.Ala197Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018429G=CA1140148041HJVc.929C= (p.Ala310=)
c.251C= (p.Ala84=)
c.590C= (p.Ala197=)
1g.146018429G>TCA342135448HJVc.929C>A (p.Ala310Asp)
c.251C>A (p.Ala84Asp)
c.590C>A (p.Ala197Asp)
 gnomAD v4
1g.146018430C>ACA342135449HJVc.928G>T (p.Ala310Ser)
c.250G>T (p.Ala84Ser)
c.589G>T (p.Ala197Ser)
1g.146018430C>GCA342135450HJVc.928G>C (p.Ala310Pro)
c.250G>C (p.Ala84Pro)
c.589G>C (p.Ala197Pro)
1g.146018430C>TCA342135453HJVc.928G>A (p.Ala310Thr)
c.250G>A (p.Ala84Thr)
c.589G>A (p.Ala197Thr)
 gnomAD v4
1g.146018431T>ACA420603441HJVc.927A>T (p.Ser309=)
c.249A>T (p.Ser83=)
c.588A>T (p.Ser196=)
1g.146018431T>CCA420603440HJVc.927A>G (p.Ser309=)
c.249A>G (p.Ser83=)
c.588A>G (p.Ser196=)
 dbSNP
1g.146018431T>GCA420603439HJVc.927A>C (p.Ser309=)
c.249A>C (p.Ser83=)
c.588A>C (p.Ser196=)
 dbSNP
1g.146018432G>ACA342135471HJVc.926C>T (p.Ser309Leu)
c.248C>T (p.Ser83Leu)
c.587C>T (p.Ser196Leu)
1g.146018432G>CCA342135472HJVc.926C>G (p.Ser309Ter)
c.248C>G (p.Ser83Ter)
c.587C>G (p.Ser196Ter)
 gnomAD v4
1g.146018432G>TCA342135479HJVc.926C>A (p.Ser309Ter)
c.248C>A (p.Ser83Ter)
c.587C>A (p.Ser196Ter)
 COSMIC
1g.146018433A=CA1198820963HJVc.925T= (p.Ser309=)
c.247T= (p.Ser83=)
c.586T= (p.Ser196=)
1g.146018433A>CCA342135485HJVc.925T>G (p.Ser309Ala)
c.247T>G (p.Ser83Ala)
c.586T>G (p.Ser196Ala)
 gnomAD v4
1g.146018433A>GCA342135494HJVc.925T>C (p.Ser309Pro)
c.247T>C (p.Ser83Pro)
c.586T>C (p.Ser196Pro)
1g.146018433A>TCA342135499HJVc.925T>A (p.Ser309Thr)
c.247T>A (p.Ser83Thr)
c.586T>A (p.Ser196Thr)
 dbSNP
1g.146018434G>ACA420603444HJVc.924C>T (p.Phe308=)
c.246C>T (p.Phe82=)
c.585C>T (p.Phe195=)
1g.146018434G>CCA342135500HJVc.924C>G (p.Phe308Leu)
c.246C>G (p.Phe82Leu)
c.585C>G (p.Phe195Leu)
1g.146018434G>TCA342135501HJVc.924C>A (p.Phe308Leu)
c.246C>A (p.Phe82Leu)
c.585C>A (p.Phe195Leu)
1g.146018435A>CCA342135509HJVc.923T>G (p.Phe308Cys)
c.245T>G (p.Phe82Cys)
c.584T>G (p.Phe195Cys)
1g.146018435A>GCA342135513HJVc.923T>C (p.Phe308Ser)
c.245T>C (p.Phe82Ser)
c.584T>C (p.Phe195Ser)
1g.146018435A>TCA342135503HJVc.923T>A (p.Phe308Tyr)
c.245T>A (p.Phe82Tyr)
c.584T>A (p.Phe195Tyr)
1g.146018436A>CCA342135518HJVc.922T>G (p.Phe308Val)
c.244T>G (p.Phe82Val)
c.583T>G (p.Phe195Val)
1g.146018436A>GCA342135528HJVc.922T>C (p.Phe308Leu)
c.244T>C (p.Phe82Leu)
c.583T>C (p.Phe195Leu)
1g.146018436A>TCA342135532HJVc.922T>A (p.Phe308Ile)
c.244T>A (p.Phe82Ile)
c.583T>A (p.Phe195Ile)
1g.146018436_146018442delinsAGGCCATCA1198820964HJVc.916_922delinsATGGCCT (p.Met306=)
c.238_244delinsATGGCCT (p.Met80=)
c.577_583delinsATGGCCT (p.Met193=)
1g.146018437G>ACA29823676HJVc.921C>T (p.Ala307=)
c.243C>T (p.Ala81=)
c.582C>T (p.Ala194=)
 dbSNP
1g.146018437G>CCA420603450HJVc.921C>G (p.Ala307=)
c.243C>G (p.Ala81=)
c.582C>G (p.Ala194=)
1g.146018437G=CA1198820965HJVc.921C= (p.Ala307=)
c.243C= (p.Ala81=)
c.582C= (p.Ala194=)
1g.146018437G>TCA420603452HJVc.921C>A (p.Ala307=)
c.243C>A (p.Ala81=)
c.582C>A (p.Ala194=)
 gnomAD v4
1g.146018442_146018447delCA888579244HJVc.916_921del (p.Met306_Ala307del)
c.238_243del (p.Met80_Ala81del)
c.577_582del (p.Met193_Ala194del)
 dbSNP gnomAD v3 gnomAD v4
1g.146018438G>ACA342135545HJVc.920C>T (p.Ala307Val)
c.242C>T (p.Ala81Val)
c.581C>T (p.Ala194Val)
1g.146018438G>CCA342135546HJVc.920C>G (p.Ala307Gly)
c.242C>G (p.Ala81Gly)
c.581C>G (p.Ala194Gly)
1g.146018438G>TCA342135551HJVc.920C>A (p.Ala307Asp)
c.242C>A (p.Ala81Asp)
c.581C>A (p.Ala194Asp)
1g.146018439C>ACA342135555HJVc.919G>T (p.Ala307Ser)
c.241G>T (p.Ala81Ser)
c.580G>T (p.Ala194Ser)
1g.146018439C>GCA342135557HJVc.919G>C (p.Ala307Pro)
c.241G>C (p.Ala81Pro)
c.580G>C (p.Ala194Pro)
1g.146018439C>TCA342135561HJVc.919G>A (p.Ala307Thr)
c.241G>A (p.Ala81Thr)
c.580G>A (p.Ala194Thr)
 gnomAD v4
1g.146018440delCA2573131054HJVc.919del (p.Ala307ProfsTer?)
c.241del (p.Ala81ProfsTer?)
c.580del (p.Ala194ProfsTer?)
 ClinVar dbSNP
1g.146018440C>ACA29823692HJVc.918G>T (p.Met306Ile)
c.240G>T (p.Met80Ile)
c.579G>T (p.Met193Ile)
1g.146018440C=CA1198820966HJVc.918G= (p.Met306=)
c.240G= (p.Met80=)
c.579G= (p.Met193=)
1g.146018440C>GCA29823700HJVc.918G>C (p.Met306Ile)
c.240G>C (p.Met80Ile)
c.579G>C (p.Met193Ile)
1g.146018440C>TCA1053921HJVc.918G>A (p.Met306Ile)
c.240G>A (p.Met80Ile)
c.579G>A (p.Met193Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018441A>CCA342135582HJVc.917T>G (p.Met306Arg)
c.239T>G (p.Met80Arg)
c.578T>G (p.Met193Arg)
1g.146018441A>GCA342135580HJVc.917T>C (p.Met306Thr)
c.239T>C (p.Met80Thr)
c.578T>C (p.Met193Thr)
 gnomAD v4
1g.146018441A>TCA342135578HJVc.917T>A (p.Met306Lys)
c.239T>A (p.Met80Lys)
c.578T>A (p.Met193Lys)
1g.146018442T>ACA342135584HJVc.916A>T (p.Met306Leu)
c.238A>T (p.Met80Leu)
c.577A>T (p.Met193Leu)
1g.146018442T>CCA342135587HJVc.916A>G (p.Met306Val)
c.238A>G (p.Met80Val)
c.577A>G (p.Met193Val)
1g.146018442T>GCA342135590HJVc.916A>C (p.Met306Leu)
c.238A>C (p.Met80Leu)
c.577A>C (p.Met193Leu)
1g.146018442T=CA1198820967HJVc.916A= (p.Met306=)
c.238A= (p.Met80=)
c.577A= (p.Met193=)
1g.146018443G>ACA1053920HJVc.915C>T (p.Ala305=)
c.237C>T (p.Ala79=)
c.576C>T (p.Ala192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018443G>CCA29823706HJVc.915C>G (p.Ala305=)
c.237C>G (p.Ala79=)
c.576C>G (p.Ala192=)
1g.146018443G=CA1143759530HJVc.915C= (p.Ala305=)
c.237C= (p.Ala79=)
c.576C= (p.Ala192=)
1g.146018443G>TCA29823722HJVc.915C>A (p.Ala305=)
c.237C>A (p.Ala79=)
c.576C>A (p.Ala192=)
1g.146018443_146018448dupCA526253969HJVc.910_915dup (p.Ala305_Met306insValAla)
c.232_237dup (p.Ala79_Met80insValAla)
c.571_576dup (p.Ala192_Met193insValAla)
 dbSNP gnomAD v2 gnomAD v4
1g.146018444G>ACA342135591HJVc.914C>T (p.Ala305Val)
c.236C>T (p.Ala79Val)
c.575C>T (p.Ala192Val)
 gnomAD v4 COSMIC
1g.146018444G>CCA342135603HJVc.914C>G (p.Ala305Gly)
c.236C>G (p.Ala79Gly)
c.575C>G (p.Ala192Gly)
1g.146018444G>TCA342135607HJVc.914C>A (p.Ala305Asp)
c.236C>A (p.Ala79Asp)
c.575C>A (p.Ala192Asp)
1g.146018445C>ACA342135611HJVc.913G>T (p.Ala305Ser)
c.235G>T (p.Ala79Ser)
c.574G>T (p.Ala192Ser)
 gnomAD v4
1g.146018445C=CA1198820968HJVc.913G= (p.Ala305=)
c.235G= (p.Ala79=)
c.574G= (p.Ala192=)
1g.146018445C>GCA342135617HJVc.913G>C (p.Ala305Pro)
c.235G>C (p.Ala79Pro)
c.574G>C (p.Ala192Pro)
1g.146018445C>TCA342135627HJVc.913G>A (p.Ala305Thr)
c.235G>A (p.Ala79Thr)
c.574G>A (p.Ala192Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018446C>ACA420603467HJVc.912G>T (p.Val304=)
c.234G>T (p.Val78=)
c.573G>T (p.Val191=)
 gnomAD v4
1g.146018446C>GCA420603465HJVc.912G>C (p.Val304=)
c.234G>C (p.Val78=)
c.573G>C (p.Val191=)
1g.146018446C>TCA420603464HJVc.912G>A (p.Val304=)
c.234G>A (p.Val78=)
c.573G>A (p.Val191=)
1g.146018447A>CCA342135636HJVc.911T>G (p.Val304Gly)
c.233T>G (p.Val78Gly)
c.572T>G (p.Val191Gly)
1g.146018447A>GCA342135654HJVc.911T>C (p.Val304Ala)
c.233T>C (p.Val78Ala)
c.572T>C (p.Val191Ala)
1g.146018447A>TCA342135655HJVc.911T>A (p.Val304Glu)
c.233T>A (p.Val78Glu)
c.572T>A (p.Val191Glu)
1g.146018448C>ACA342135657HJVc.910G>T (p.Val304Leu)
c.232G>T (p.Val78Leu)
c.571G>T (p.Val191Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018448C=CA1198820969HJVc.910G= (p.Val304=)
c.232G= (p.Val78=)
c.571G= (p.Val191=)
1g.146018448C>GCA342135662HJVc.910G>C (p.Val304Leu)
c.232G>C (p.Val78Leu)
c.571G>C (p.Val191Leu)
1g.146018448C>TCA342135656HJVc.910G>A (p.Val304Met)
c.232G>A (p.Val78Met)
c.571G>A (p.Val191Met)
1g.146018449A>CCA342135685HJVc.909T>G (p.Asp303Glu)
c.231T>G (p.Asp77Glu)
c.570T>G (p.Asp190Glu)
1g.146018449A>GCA420603470HJVc.909T>C (p.Asp303=)
c.231T>C (p.Asp77=)
c.570T>C (p.Asp190=)
1g.146018449A>TCA342135690HJVc.909T>A (p.Asp303Glu)
c.231T>A (p.Asp77Glu)
c.570T>A (p.Asp190Glu)
1g.146018450T>ACA342135701HJVc.908A>T (p.Asp303Val)
c.230A>T (p.Asp77Val)
c.569A>T (p.Asp190Val)
1g.146018450T>CCA342135720HJVc.908A>G (p.Asp303Gly)
c.230A>G (p.Asp77Gly)
c.569A>G (p.Asp190Gly)
1g.146018450T>GCA342135721HJVc.908A>C (p.Asp303Ala)
c.230A>C (p.Asp77Ala)
c.569A>C (p.Asp190Ala)
1g.146018451C>ACA342135729HJVc.907G>T (p.Asp303Tyr)
c.229G>T (p.Asp77Tyr)
c.568G>T (p.Asp190Tyr)
 gnomAD v4
1g.146018451C>GCA342135723HJVc.907G>C (p.Asp303His)
c.229G>C (p.Asp77His)
c.568G>C (p.Asp190His)
1g.146018451C>TCA342135722HJVc.907G>A (p.Asp303Asn)
c.229G>A (p.Asp77Asn)
c.568G>A (p.Asp190Asn)
1g.146018452C>ACA1053919HJVc.906G>T (p.Glu302Asp)
c.228G>T (p.Glu76Asp)
c.567G>T (p.Glu189Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018452C=CA1141871862HJVc.906G= (p.Glu302=)
c.228G= (p.Glu76=)
c.567G= (p.Glu189=)
1g.146018452C>GCA29823743HJVc.906G>C (p.Glu302Asp)
c.228G>C (p.Glu76Asp)
c.567G>C (p.Glu189Asp)
1g.146018452C>TCA1053918HJVc.906G>A (p.Glu302=)
c.228G>A (p.Glu76=)
c.567G>A (p.Glu189=)
 ClinVar dbSNP ExAC
1g.146018453T>ACA342135740HJVc.905A>T (p.Glu302Val)
c.227A>T (p.Glu76Val)
c.566A>T (p.Glu189Val)
1g.146018453T>CCA342135745HJVc.905A>G (p.Glu302Gly)
c.227A>G (p.Glu76Gly)
c.566A>G (p.Glu189Gly)
1g.146018453T>GCA342135746HJVc.905A>C (p.Glu302Ala)
c.227A>C (p.Glu76Ala)
c.566A>C (p.Glu189Ala)
1g.146018454C>ACA342135747HJVc.904G>T (p.Glu302Ter)
c.226G>T (p.Glu76Ter)
c.565G>T (p.Glu189Ter)
1g.146018454C=CA1141933395HJVc.904G= (p.Glu302=)
c.226G= (p.Glu76=)
c.565G= (p.Glu189=)
1g.146018454C>GCA342135754HJVc.904G>C (p.Glu302Gln)
c.226G>C (p.Glu76Gln)
c.565G>C (p.Glu189Gln)
1g.146018454C>TCA1053917HJVc.904G>A (p.Glu302Lys)
c.226G>A (p.Glu76Lys)
c.565G>A (p.Glu189Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018455T>ACA420603479HJVc.903A>T (p.Ala301=)
c.225A>T (p.Ala75=)
c.564A>T (p.Ala188=)
1g.146018455T>CCA420603478HJVc.903A>G (p.Ala301=)
c.225A>G (p.Ala75=)
c.564A>G (p.Ala188=)
1g.146018455T>GCA420603477HJVc.903A>C (p.Ala301=)
c.225A>C (p.Ala75=)
c.564A>C (p.Ala188=)
1g.146018456G>ACA342135756HJVc.902C>T (p.Ala301Val)
c.224C>T (p.Ala75Val)
c.563C>T (p.Ala188Val)
1g.146018456G>CCA342135757HJVc.902C>G (p.Ala301Gly)
c.224C>G (p.Ala75Gly)
c.563C>G (p.Ala188Gly)
1g.146018456G>TCA342135758HJVc.902C>A (p.Ala301Glu)
c.224C>A (p.Ala75Glu)
c.563C>A (p.Ala188Glu)
1g.146018457C>ACA342135763HJVc.901G>T (p.Ala301Ser)
c.223G>T (p.Ala75Ser)
c.562G>T (p.Ala188Ser)
 gnomAD v4
1g.146018457C>GCA342135769HJVc.901G>C (p.Ala301Pro)
c.223G>C (p.Ala75Pro)
c.562G>C (p.Ala188Pro)
1g.146018457C>TCA342135771HJVc.901G>A (p.Ala301Thr)
c.223G>A (p.Ala75Thr)
c.562G>A (p.Ala188Thr)
1g.146018458T>ACA29823757HJVc.900A>T (p.Val300=)
c.222A>T (p.Val74=)
c.561A>T (p.Val187=)
1g.146018458T>CCA1053916HJVc.900A>G (p.Val300=)
c.222A>G (p.Val74=)
c.561A>G (p.Val187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018458T>GCA29823761HJVc.900A>C (p.Val300=)
c.222A>C (p.Val74=)
c.561A>C (p.Val187=)
1g.146018458T=CA1198820970HJVc.900A= (p.Val300=)
c.222A= (p.Val74=)
c.561A= (p.Val187=)
1g.146018459A>CCA342135791HJVc.899T>G (p.Val300Gly)
c.221T>G (p.Val74Gly)
c.560T>G (p.Val187Gly)
1g.146018459A>GCA342135793HJVc.899T>C (p.Val300Ala)
c.221T>C (p.Val74Ala)
c.560T>C (p.Val187Ala)
1g.146018459A>TCA342135795HJVc.899T>A (p.Val300Glu)
c.221T>A (p.Val74Glu)
c.560T>A (p.Val187Glu)
1g.146018459_146018460delinsACCA1198820971HJVc.898_899delinsGT (p.Val300=)
c.220_221delinsGT (p.Val74=)
c.559_560delinsGT (p.Val187=)
1g.146018460C>ACA342135808HJVc.898G>T (p.Val300Leu)
c.220G>T (p.Val74Leu)
c.559G>T (p.Val187Leu)
1g.146018460C>GCA342135803HJVc.898G>C (p.Val300Leu)
c.220G>C (p.Val74Leu)
c.559G>C (p.Val187Leu)
1g.146018460C>TCA342135798HJVc.898G>A (p.Val300Ile)
c.220G>A (p.Val74Ile)
c.559G>A (p.Val187Ile)
 gnomAD v4
1g.146018461delCA1198820972HJVc.898del (p.Val300Ter)
c.220del (p.Val74Ter)
c.559del (p.Val187Ter)
 ClinVar dbSNP gnomAD v4
1g.146018461C>ACA342135813HJVc.897G>T (p.Lys299Asn)
c.219G>T (p.Lys73Asn)
c.558G>T (p.Lys186Asn)
1g.146018461C>GCA342135823HJVc.897G>C (p.Lys299Asn)
c.219G>C (p.Lys73Asn)
c.558G>C (p.Lys186Asn)
 gnomAD v4
1g.146018461C>TCA420603481HJVc.897G>A (p.Lys299=)
c.219G>A (p.Lys73=)
c.558G>A (p.Lys186=)
 gnomAD v4
1g.146018462T>ACA342135829HJVc.896A>T (p.Lys299Met)
c.218A>T (p.Lys73Met)
c.557A>T (p.Lys186Met)
1g.146018462T>CCA342135844HJVc.896A>G (p.Lys299Arg)
c.218A>G (p.Lys73Arg)
c.557A>G (p.Lys186Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.146018462T>GCA342135840HJVc.896A>C (p.Lys299Thr)
c.218A>C (p.Lys73Thr)
c.557A>C (p.Lys186Thr)
1g.146018462T=CA1198820973HJVc.896A= (p.Lys299=)
c.218A= (p.Lys73=)
c.557A= (p.Lys186=)
1g.146018463T>ACA342135846HJVc.895A>T (p.Lys299Ter)
c.217A>T (p.Lys73Ter)
c.556A>T (p.Lys186Ter)
1g.146018463T>CCA342135850HJVc.895A>G (p.Lys299Glu)
c.217A>G (p.Lys73Glu)
c.556A>G (p.Lys186Glu)
1g.146018463T>GCA342135848HJVc.895A>C (p.Lys299Gln)
c.217A>C (p.Lys73Gln)
c.556A>C (p.Lys186Gln)
1g.146018464G>ACA420603483HJVc.894C>T (p.Ile298=)
c.216C>T (p.Ile72=)
c.555C>T (p.Ile185=)
1g.146018464G>CCA342135864HJVc.894C>G (p.Ile298Met)
c.216C>G (p.Ile72Met)
c.555C>G (p.Ile185Met)
1g.146018464G>TCA420603482HJVc.894C>A (p.Ile298=)
c.216C>A (p.Ile72=)
c.555C>A (p.Ile185=)
1g.146018465A=CA1198820974HJVc.893T= (p.Ile298=)
c.215T= (p.Ile72=)
c.554T= (p.Ile185=)
1g.146018465A>CCA342135897HJVc.893T>G (p.Ile298Ser)
c.215T>G (p.Ile72Ser)
c.554T>G (p.Ile185Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.146018465A>GCA342135871HJVc.893T>C (p.Ile298Thr)
c.215T>C (p.Ile72Thr)
c.554T>C (p.Ile185Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.146018465A>TCA342135905HJVc.893T>A (p.Ile298Asn)
c.215T>A (p.Ile72Asn)
c.554T>A (p.Ile185Asn)
1g.146018466T>ACA29823767HJVc.892A>T (p.Ile298Phe)
c.214A>T (p.Ile72Phe)
c.553A>T (p.Ile185Phe)
1g.146018466T>CCA29823768HJVc.892A>G (p.Ile298Val)
c.214A>G (p.Ile72Val)
c.553A>G (p.Ile185Val)
1g.146018466T>GCA1053915HJVc.892A>C (p.Ile298Leu)
c.214A>C (p.Ile72Leu)
c.553A>C (p.Ile185Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018466T=CA1198820975HJVc.892A= (p.Ile298=)
c.214A= (p.Ile72=)
c.553A= (p.Ile185=)
1g.146018467G>ACA420603489HJVc.891C>T (p.Ser297=)
c.213C>T (p.Ser71=)
c.552C>T (p.Ser184=)
 ClinVar dbSNP gnomAD v4
1g.146018467G>CCA420603488HJVc.891C>G (p.Ser297=)
c.213C>G (p.Ser71=)
c.552C>G (p.Ser184=)
1g.146018467G>TCA420603490HJVc.891C>A (p.Ser297=)
c.213C>A (p.Ser71=)
c.552C>A (p.Ser184=)
1g.146018472_146018477delCA2508527509HJVc.886_891del (p.Phe296_Ser297del)
c.208_213del (p.Phe70_Ser71del)
c.547_552del (p.Phe183_Ser184del)
1g.146018468G>ACA342135933HJVc.890C>T (p.Ser297Phe)
c.212C>T (p.Ser71Phe)
c.551C>T (p.Ser184Phe)
 gnomAD v4
1g.146018468G>CCA342135934HJVc.890C>G (p.Ser297Cys)
c.212C>G (p.Ser71Cys)
c.551C>G (p.Ser184Cys)
1g.146018468G>TCA342135936HJVc.890C>A (p.Ser297Tyr)
c.212C>A (p.Ser71Tyr)
c.551C>A (p.Ser184Tyr)
1g.146018469A>CCA342135939HJVc.889T>G (p.Ser297Ala)
c.211T>G (p.Ser71Ala)
c.550T>G (p.Ser184Ala)
1g.146018469A>GCA342135946HJVc.889T>C (p.Ser297Pro)
c.211T>C (p.Ser71Pro)
c.550T>C (p.Ser184Pro)
 gnomAD v4
1g.146018469A>TCA342135949HJVc.889T>A (p.Ser297Thr)
c.211T>A (p.Ser71Thr)
c.550T>A (p.Ser184Thr)
1g.146018470G>ACA420603491HJVc.888C>T (p.Phe296=)
c.210C>T (p.Phe70=)
c.549C>T (p.Phe183=)
1g.146018470G>CCA342135957HJVc.888C>G (p.Phe296Leu)
c.210C>G (p.Phe70Leu)
c.549C>G (p.Phe183Leu)
1g.146018470G>TCA342135963HJVc.888C>A (p.Phe296Leu)
c.210C>A (p.Phe70Leu)
c.549C>A (p.Phe183Leu)
1g.146018471A=CA1198820976HJVc.887T= (p.Phe296=)
c.209T= (p.Phe70=)
c.548T= (p.Phe183=)
1g.146018471A>CCA342135968HJVc.887T>G (p.Phe296Cys)
c.209T>G (p.Phe70Cys)
c.548T>G (p.Phe183Cys)
1g.146018471A>GCA342135971HJVc.887T>C (p.Phe296Ser)
c.209T>C (p.Phe70Ser)
c.548T>C (p.Phe183Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.146018471A>TCA342135974HJVc.887T>A (p.Phe296Tyr)
c.209T>A (p.Phe70Tyr)
c.548T>A (p.Phe183Tyr)
1g.146018472A=CA1198820977HJVc.886T= (p.Phe296=)
c.208T= (p.Phe70=)
c.547T= (p.Phe183=)
1g.146018472A>CCA342135995HJVc.886T>G (p.Phe296Val)
c.208T>G (p.Phe70Val)
c.547T>G (p.Phe183Val)
 dbSNP
1g.146018472A>GCA342135987HJVc.886T>C (p.Phe296Leu)
c.208T>C (p.Phe70Leu)
c.547T>C (p.Phe183Leu)
 COSMIC
1g.146018472A>TCA342135990HJVc.886T>A (p.Phe296Ile)
c.208T>A (p.Phe70Ile)
c.547T>A (p.Phe183Ile)
1g.146018473G>ACA1053914HJVc.885C>T (p.Ser295=)
c.207C>T (p.Ser69=)
c.546C>T (p.Ser182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018473G>CCA29823769HJVc.885C>G (p.Ser295=)
c.207C>G (p.Ser69=)
c.546C>G (p.Ser182=)
1g.146018473G=CA1143435950HJVc.885C= (p.Ser295=)
c.207C= (p.Ser69=)
c.546C= (p.Ser182=)
1g.146018473G>TCA29823770HJVc.885C>A (p.Ser295=)
c.207C>A (p.Ser69=)
c.546C>A (p.Ser182=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018474delCA2573131055HJVc.885del (p.Phe296SerfsTer5)
c.207del (p.Phe70SerfsTer5)
c.546del (p.Phe183SerfsTer5)
 ClinVar dbSNP
1g.146018474G>ACA342136015HJVc.884C>T (p.Ser295Phe)
c.206C>T (p.Ser69Phe)
c.545C>T (p.Ser182Phe)
 dbSNP
1g.146018474G>CCA342136018HJVc.884C>G (p.Ser295Cys)
c.206C>G (p.Ser69Cys)
c.545C>G (p.Ser182Cys)
1g.146018474G=CA1198820978HJVc.884C= (p.Ser295=)
c.206C= (p.Ser69=)
c.545C= (p.Ser182=)
1g.146018474G>TCA342136027HJVc.884C>A (p.Ser295Tyr)
c.206C>A (p.Ser69Tyr)
c.545C>A (p.Ser182Tyr)
1g.146018475A>CCA342136030HJVc.883T>G (p.Ser295Ala)
c.205T>G (p.Ser69Ala)
c.544T>G (p.Ser182Ala)
1g.146018475A>GCA342136034HJVc.883T>C (p.Ser295Pro)
c.205T>C (p.Ser69Pro)
c.544T>C (p.Ser182Pro)
1g.146018475A>TCA342136043HJVc.883T>A (p.Ser295Thr)
c.205T>A (p.Ser69Thr)
c.544T>A (p.Ser182Thr)
1g.146018476G>ACA1053913HJVc.882C>T (p.Leu294=)
c.204C>T (p.Leu68=)
c.543C>T (p.Leu181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018476G>CCA29823776HJVc.882C>G (p.Leu294=)
c.204C>G (p.Leu68=)
c.543C>G (p.Leu181=)
1g.146018476G=CA1142291109HJVc.882C= (p.Leu294=)
c.204C= (p.Leu68=)
c.543C= (p.Leu181=)
1g.146018476G>TCA29823779HJVc.882C>A (p.Leu294=)
c.204C>A (p.Leu68=)
c.543C>A (p.Leu181=)
 dbSNP gnomAD v2 gnomAD v4
1g.146018477A=CA1198820979HJVc.881T= (p.Leu294=)
c.203T= (p.Leu68=)
c.542T= (p.Leu181=)
1g.146018477A>CCA342136070HJVc.881T>G (p.Leu294Arg)
c.203T>G (p.Leu68Arg)
c.542T>G (p.Leu181Arg)
1g.146018477A>GCA342136068HJVc.881T>C (p.Leu294Pro)
c.203T>C (p.Leu68Pro)
c.542T>C (p.Leu181Pro)
1g.146018477A>TCA1053912HJVc.881T>A (p.Leu294His)
c.203T>A (p.Leu68His)
c.542T>A (p.Leu181His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018478G>ACA342136072HJVc.880C>T (p.Leu294Phe)
c.202C>T (p.Leu68Phe)
c.541C>T (p.Leu181Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.146018478G>CCA342136077HJVc.880C>G (p.Leu294Val)
c.202C>G (p.Leu68Val)
c.541C>G (p.Leu181Val)
1g.146018478G=CA1140680124HJVc.880C= (p.Leu294=)
c.202C= (p.Leu68=)
c.541C= (p.Leu181=)
1g.146018478G>TCA342136078HJVc.880C>A (p.Leu294Ile)
c.202C>A (p.Leu68Ile)
c.541C>A (p.Leu181Ile)
1g.146018479C>ACA342136081HJVc.879G>T (p.Gln293His)
c.201G>T (p.Gln67His)
c.540G>T (p.Gln180His)
1g.146018479C=CA1198820980HJVc.879G= (p.Gln293=)
c.201G= (p.Gln67=)
c.540G= (p.Gln180=)
1g.146018479C>GCA342136088HJVc.879G>C (p.Gln293His)
c.201G>C (p.Gln67His)
c.540G>C (p.Gln180His)
 dbSNP gnomAD v3 gnomAD v4
1g.146018479C>TCA420603500HJVc.879G>A (p.Gln293=)
c.201G>A (p.Gln67=)
c.540G>A (p.Gln180=)
1g.146018480T>ACA342136092HJVc.878A>T (p.Gln293Leu)
c.200A>T (p.Gln67Leu)
c.539A>T (p.Gln180Leu)
 gnomAD v4
1g.146018480T>CCA342136106HJVc.878A>G (p.Gln293Arg)
c.200A>G (p.Gln67Arg)
c.539A>G (p.Gln180Arg)
1g.146018480T>GCA342136110HJVc.878A>C (p.Gln293Pro)
c.200A>C (p.Gln67Pro)
c.539A>C (p.Gln180Pro)
1g.146018481G>ACA342136123HJVc.877C>T (p.Gln293Ter)
c.199C>T (p.Gln67Ter)
c.538C>T (p.Gln180Ter)
1g.146018481G>CCA342136126HJVc.877C>G (p.Gln293Glu)
c.199C>G (p.Gln67Glu)
c.538C>G (p.Gln180Glu)
1g.146018481G=CA1198820981HJVc.877C= (p.Gln293=)
c.199C= (p.Gln67=)
c.538C= (p.Gln180=)
1g.146018481G>TCA342136128HJVc.877C>A (p.Gln293Lys)
c.199C>A (p.Gln67Lys)
c.538C>A (p.Gln180Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.146018482C>ACA420603507HJVc.876G>T (p.Gly292=)
c.198G>T (p.Gly66=)
c.537G>T (p.Gly179=)
1g.146018482C=CA1198820982HJVc.876G= (p.Gly292=)
c.198G= (p.Gly66=)
c.537G= (p.Gly179=)
1g.146018482C>GCA420603506HJVc.876G>C (p.Gly292=)
c.198G>C (p.Gly66=)
c.537G>C (p.Gly179=)
1g.146018482C>TCA420603503HJVc.876G>A (p.Gly292=)
c.198G>A (p.Gly66=)
c.537G>A (p.Gly179=)
 dbSNP gnomAD v4
1g.146018483C>ACA342136144HJVc.875G>T (p.Gly292Val)
c.197G>T (p.Gly66Val)
c.536G>T (p.Gly179Val)
1g.146018483C>GCA342136141HJVc.875G>C (p.Gly292Ala)
c.197G>C (p.Gly66Ala)
c.536G>C (p.Gly179Ala)
1g.146018483C>TCA342136137HJVc.875G>A (p.Gly292Glu)
c.197G>A (p.Gly66Glu)
c.536G>A (p.Gly179Glu)
1g.146018484C>ACA29823792HJVc.874G>T (p.Gly292Trp)
c.196G>T (p.Gly66Trp)
c.535G>T (p.Gly179Trp)
1g.146018484C=CA1198820983HJVc.874G= (p.Gly292=)
c.196G= (p.Gly66=)
c.535G= (p.Gly179=)
1g.146018484C>GCA29823794HJVc.874G>C (p.Gly292Arg)
c.196G>C (p.Gly66Arg)
c.535G>C (p.Gly179Arg)
1g.146018484C>TCA1053911HJVc.874G>A (p.Gly292Arg)
c.196G>A (p.Gly66Arg)
c.535G>A (p.Gly179Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018485A=CA1198820984HJVc.873T= (p.Ala291=)
c.195T= (p.Ala65=)
c.534T= (p.Ala178=)
1g.146018485A>CCA420603510HJVc.873T>G (p.Ala291=)
c.195T>G (p.Ala65=)
c.534T>G (p.Ala178=)
 dbSNP
1g.146018485A>GCA420603509HJVc.873T>C (p.Ala291=)
c.195T>C (p.Ala65=)
c.534T>C (p.Ala178=)
 ClinVar dbSNP gnomAD v4
1g.146018485A>TCA420603511HJVc.873T>A (p.Ala291=)
c.195T>A (p.Ala65=)
c.534T>A (p.Ala178=)
1g.146018486G>ACA342136150HJVc.872C>T (p.Ala291Val)
c.194C>T (p.Ala65Val)
c.533C>T (p.Ala178Val)
 dbSNP gnomAD v2 gnomAD v4
1g.146018486G>CCA1053910HJVc.872C>G (p.Ala291Gly)
c.194C>G (p.Ala65Gly)
c.533C>G (p.Ala178Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018486G=CA1144127259HJVc.872C= (p.Ala291=)
c.194C= (p.Ala65=)
c.533C= (p.Ala178=)
1g.146018486G>TCA342136153HJVc.872C>A (p.Ala291Asp)
c.194C>A (p.Ala65Asp)
c.533C>A (p.Ala178Asp)
1g.146018487C>ACA1053909HJVc.871G>T (p.Ala291Ser)
c.193G>T (p.Ala65Ser)
c.532G>T (p.Ala178Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018487C=CA1198820985HJVc.871G= (p.Ala291=)
c.193G= (p.Ala65=)
c.532G= (p.Ala178=)
1g.146018487C>GCA342136156HJVc.871G>C (p.Ala291Pro)
c.193G>C (p.Ala65Pro)
c.532G>C (p.Ala178Pro)
1g.146018487C>TCA342136160HJVc.871G>A (p.Ala291Thr)
c.193G>A (p.Ala65Thr)
c.532G>A (p.Ala178Thr)
1g.146018488T>ACA420603514HJVc.870A>T (p.Thr290=)
c.192A>T (p.Thr64=)
c.531A>T (p.Thr177=)
1g.146018488T>CCA420603515HJVc.870A>G (p.Thr290=)
c.192A>G (p.Thr64=)
c.531A>G (p.Thr177=)
1g.146018488T>GCA420603513HJVc.870A>C (p.Thr290=)
c.192A>C (p.Thr64=)
c.531A>C (p.Thr177=)
 gnomAD v4
1g.146018489G>ACA342136162HJVc.869C>T (p.Thr290Ile)
c.191C>T (p.Thr64Ile)
c.530C>T (p.Thr177Ile)
1g.146018489G>CCA342136164HJVc.869C>G (p.Thr290Arg)
c.191C>G (p.Thr64Arg)
c.530C>G (p.Thr177Arg)
1g.146018489G>TCA342136167HJVc.869C>A (p.Thr290Lys)
c.191C>A (p.Thr64Lys)
c.530C>A (p.Thr177Lys)
1g.146018490T>ACA29823801HJVc.868A>T (p.Thr290Ser)
c.190A>T (p.Thr64Ser)
c.529A>T (p.Thr177Ser)
 gnomAD v4
1g.146018490T>CCA342136180HJVc.868A>G (p.Thr290Ala)
c.190A>G (p.Thr64Ala)
c.529A>G (p.Thr177Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.146018490T>GCA29823800HJVc.868A>C (p.Thr290Pro)
c.190A>C (p.Thr64Pro)
c.529A>C (p.Thr177Pro)
1g.146018490T=CA1148154927HJVc.868A= (p.Thr290=)
c.190A= (p.Thr64=)
c.529A= (p.Thr177=)
1g.146018491C>ACA342136223HJVc.867G>T (p.Gln289His)
c.189G>T (p.Gln63His)
c.528G>T (p.Gln176His)
1g.146018491C=CA1198820986HJVc.867G= (p.Gln289=)
c.189G= (p.Gln63=)
c.528G= (p.Gln176=)
1g.146018491C>GCA342136228HJVc.867G>C (p.Gln289His)
c.189G>C (p.Gln63His)
c.528G>C (p.Gln176His)
1g.146018491C>TCA420603520HJVc.867G>A (p.Gln289=)
c.189G>A (p.Gln63=)
c.528G>A (p.Gln176=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018492T>ACA342136230HJVc.866A>T (p.Gln289Leu)
c.188A>T (p.Gln63Leu)
c.527A>T (p.Gln176Leu)
1g.146018492T>CCA342136235HJVc.866A>G (p.Gln289Arg)
c.188A>G (p.Gln63Arg)
c.527A>G (p.Gln176Arg)
1g.146018492T>GCA342136238HJVc.866A>C (p.Gln289Pro)
c.188A>C (p.Gln63Pro)
c.527A>C (p.Gln176Pro)
1g.146018493G>ACA342136241HJVc.865C>T (p.Gln289Ter)
c.187C>T (p.Gln63Ter)
c.526C>T (p.Gln176Ter)
1g.146018493G>CCA342136244HJVc.865C>G (p.Gln289Glu)
c.187C>G (p.Gln63Glu)
c.526C>G (p.Gln176Glu)
1g.146018493G>TCA342136248HJVc.865C>A (p.Gln289Lys)
c.187C>A (p.Gln63Lys)
c.526C>A (p.Gln176Lys)
1g.146018494C>ACA420603525HJVc.864G>T (p.Arg288=)
c.186G>T (p.Arg62=)
c.525G>T (p.Arg175=)
1g.146018494C=CA1198820987HJVc.864G= (p.Arg288=)
c.186G= (p.Arg62=)
c.525G= (p.Arg175=)
1g.146018494C>GCA420603523HJVc.864G>C (p.Arg288=)
c.186G>C (p.Arg62=)
c.525G>C (p.Arg175=)
1g.146018494C>TCA420603522HJVc.864G>A (p.Arg288=)
c.186G>A (p.Arg62=)
c.525G>A (p.Arg175=)
 dbSNP gnomAD v4
1g.146018495C>ACA29823803HJVc.863G>T (p.Arg288Leu)
c.185G>T (p.Arg62Leu)
c.524G>T (p.Arg175Leu)
1g.146018495C=CA1143935447HJVc.863G= (p.Arg288=)
c.185G= (p.Arg62=)
c.524G= (p.Arg175=)
1g.146018495C>GCA29823804HJVc.863G>C (p.Arg288Pro)
c.185G>C (p.Arg62Pro)
c.524G>C (p.Arg175Pro)
1g.146018495C>TCA1053908HJVc.863G>A (p.Arg288Gln)
c.185G>A (p.Arg62Gln)
c.524G>A (p.Arg175Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018496G>ACA1053907HJVc.862C>T (p.Arg288Trp)
c.184C>T (p.Arg62Trp)
c.523C>T (p.Arg175Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018496G>CCA29823807HJVc.862C>G (p.Arg288Gly)
c.184C>G (p.Arg62Gly)
c.523C>G (p.Arg175Gly)
 gnomAD v4
1g.146018496G=CA1198820988HJVc.862C= (p.Arg288=)
c.184C= (p.Arg62=)
c.523C= (p.Arg175=)
1g.146018496G>TCA29823811HJVc.862C>A (p.Arg288=)
c.184C>A (p.Arg62=)
c.523C>A (p.Arg175=)
1g.146018497A>CCA342136268HJVc.861T>G (p.Ile287Met)
c.183T>G (p.Ile61Met)
c.522T>G (p.Ile174Met)
1g.146018497A>GCA420603530HJVc.861T>C (p.Ile287=)
c.183T>C (p.Ile61=)
c.522T>C (p.Ile174=)
1g.146018497A>TCA420603529HJVc.861T>A (p.Ile287=)
c.183T>A (p.Ile61=)
c.522T>A (p.Ile174=)
1g.146018498A>CCA342136269HJVc.860T>G (p.Ile287Ser)
c.182T>G (p.Ile61Ser)
c.521T>G (p.Ile174Ser)
1g.146018498A>GCA342136272HJVc.860T>C (p.Ile287Thr)
c.182T>C (p.Ile61Thr)
c.521T>C (p.Ile174Thr)
1g.146018498A>TCA342136276HJVc.860T>A (p.Ile287Asn)
c.182T>A (p.Ile61Asn)
c.521T>A (p.Ile174Asn)
1g.146018499T>ACA342136284HJVc.859A>T (p.Ile287Phe)
c.181A>T (p.Ile61Phe)
c.520A>T (p.Ile174Phe)
1g.146018499T>CCA342136290HJVc.859A>G (p.Ile287Val)
c.181A>G (p.Ile61Val)
c.520A>G (p.Ile174Val)
1g.146018499T>GCA342136292HJVc.859A>C (p.Ile287Leu)
c.181A>C (p.Ile61Leu)
c.520A>C (p.Ile174Leu)

Number of alleles fetched