Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.182838514G>ACA349750581FRZBc.692C>T (p.Pro231Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838514G>CCA349750585FRZBc.692C>G (p.Pro231Arg)
2g.182838514G=CA1312515883FRZBc.692C= (p.Pro231=)
2g.182838514G>TCA349750583FRZBc.692C>A (p.Pro231Gln)
2g.182838515G>ACA349750586FRZBc.691C>T (p.Pro231Ser)
2g.182838515G>CCA349750588FRZBc.691C>G (p.Pro231Ala)
gnomAD v4
2g.182838515G>TCA349750590FRZBc.691C>A (p.Pro231Thr)
2g.182838516A>CCA349750593FRZBc.690T>G (p.Ile230Met)
2g.182838516A>GCA430432113FRZBc.690T>C (p.Ile230=)
2g.182838516A>TCA430432112FRZBc.690T>A (p.Ile230=)
2g.182838517A=CA1312515884FRZBc.689T= (p.Ile230=)
2g.182838517A>CCA349750595FRZBc.689T>G (p.Ile230Ser)
2g.182838517A>GCA349750597FRZBc.689T>C (p.Ile230Thr)
dbSNP gnomAD v4
2g.182838517A>TCA349750599FRZBc.689T>A (p.Ile230Asn)
2g.182838518T>ACA349750601FRZBc.688A>T (p.Ile230Phe)
2g.182838518T>CCA349750603FRZBc.688A>G (p.Ile230Val)
2g.182838518T>GCA349750604FRZBc.688A>C (p.Ile230Leu)
2g.182838519G>ACA430432114FRZBc.687C>T (p.Asn229=)
dbSNP
2g.182838519G>CCA349750606FRZBc.687C>G (p.Asn229Lys)
2g.182838519G=CA1312515885FRZBc.687C= (p.Asn229=)
2g.182838519G>TCA2013952FRZBc.687C>A (p.Asn229Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838520T>ACA349750609FRZBc.686A>T (p.Asn229Ile)
2g.182838520T>CCA349750612FRZBc.686A>G (p.Asn229Ser)
gnomAD v4
2g.182838520T>GCA349750611FRZBc.686A>C (p.Asn229Thr)
2g.182838521T>ACA349750615FRZBc.685A>T (p.Asn229Tyr)
2g.182838521T>CCA349750617FRZBc.685A>G (p.Asn229Asp)
2g.182838521T>GCA349750618FRZBc.685A>C (p.Asn229His)
gnomAD v4
2g.182838522T>ACA430432115FRZBc.684A>T (p.Val228=)
2g.182838522T>CCA430432116FRZBc.684A>G (p.Val228=)
2g.182838522T>GCA430432117FRZBc.684A>C (p.Val228=)
2g.182838523A>CCA349750621FRZBc.683T>G (p.Val228Gly)
2g.182838523A>GCA349750623FRZBc.683T>C (p.Val228Ala)
2g.182838523A>TCA349750624FRZBc.683T>A (p.Val228Glu)
2g.182838524C>ACA349750627FRZBc.682G>T (p.Val228Leu)
2g.182838524C=CA1312515886FRZBc.682G= (p.Val228=)
2g.182838524C>GCA349750629FRZBc.682G>C (p.Val228Leu)
dbSNP gnomAD v4
2g.182838524C>TCA349750631FRZBc.682G>A (p.Val228Ile)
dbSNP
2g.182838525C>ACA430432118FRZBc.681G>T (p.Leu227=)
dbSNP gnomAD v2 gnomAD v4
2g.182838525C=CA1312515887FRZBc.681G= (p.Leu227=)
2g.182838525C>GCA430432120FRZBc.681G>C (p.Leu227=)
2g.182838525C>TCA430432121FRZBc.681G>A (p.Leu227=)
2g.182838526A>CCA349750637FRZBc.680T>G (p.Leu227Arg)
2g.182838526A>GCA349750635FRZBc.680T>C (p.Leu227Pro)
2g.182838526A>TCA349750633FRZBc.680T>A (p.Leu227Gln)
2g.182838526_182838527insAACA2013953FRZBc.680_681insTT (p.Val228TrpfsTer2)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838526dupCA2662236419FRZBc.680dup (p.Val228GlyfsTer22)
gnomAD v4
2g.182838527G>ACA430432122FRZBc.679C>T (p.Leu227=)
2g.182838527G>CCA349750640FRZBc.679C>G (p.Leu227Val)
2g.182838527G>TCA349750643FRZBc.679C>A (p.Leu227Met)
2g.182838528A>CCA430432123FRZBc.678T>G (p.Ser226=)
2g.182838528A>GCA430432125FRZBc.678T>C (p.Ser226=)
2g.182838528A>TCA430432124FRZBc.678T>A (p.Ser226=)
2g.182838529G>ACA2013954FRZBc.677C>T (p.Ser226Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838529G>CCA349750645FRZBc.677C>G (p.Ser226Cys)
2g.182838529G=CA1312515888FRZBc.677C= (p.Ser226=)
2g.182838529G>TCA349750647FRZBc.677C>A (p.Ser226Tyr)
dbSNP gnomAD v3 gnomAD v4
2g.182838530A=CA1312515889FRZBc.676T= (p.Ser226=)
2g.182838530A>CCA349750649FRZBc.676T>G (p.Ser226Ala)
2g.182838530A>GCA61680189FRZBc.676T>C (p.Ser226Pro)
dbSNP
2g.182838530A>TCA349750652FRZBc.676T>A (p.Ser226Thr)
2g.182838531G>ACA430432126FRZBc.675C>T (p.Ser225=)
2g.182838531G>CCA430432127FRZBc.675C>G (p.Ser225=)
2g.182838531G>TCA430432128FRZBc.675C>A (p.Ser225=)
2g.182838532G>ACA349750654FRZBc.674C>T (p.Ser225Phe)
2g.182838532G>CCA2013955FRZBc.674C>G (p.Ser225Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838532G=CA1312515890FRZBc.674C= (p.Ser225=)
2g.182838532G>TCA349750657FRZBc.674C>A (p.Ser225Tyr)
2g.182838533A>CCA349750661FRZBc.673T>G (p.Ser225Ala)
2g.182838533A>GCA349750663FRZBc.673T>C (p.Ser225Pro)
2g.182838533A>TCA349750659FRZBc.673T>A (p.Ser225Thr)
2g.182838534C>ACA349750665FRZBc.672G>T (p.Lys224Asn)
2g.182838534C=CA1312515891FRZBc.672G= (p.Lys224=)
2g.182838534C>GCA349750667FRZBc.672G>C (p.Lys224Asn)
2g.182838534C>TCA430432129FRZBc.672G>A (p.Lys224=)
dbSNP
2g.182838535T>ACA349750670FRZBc.671A>T (p.Lys224Met)
2g.182838535T>CCA349750671FRZBc.671A>G (p.Lys224Arg)
2g.182838535T>GCA349750673FRZBc.671A>C (p.Lys224Thr)
2g.182838536T>ACA349750679FRZBc.670A>T (p.Lys224Ter)
2g.182838536T>CCA349750675FRZBc.670A>G (p.Lys224Glu)
2g.182838536T>GCA349750677FRZBc.670A>C (p.Lys224Gln)
2g.182838537T>ACA430432130FRZBc.669A>T (p.Leu223=)
2g.182838537T>CCA2013956FRZBc.669A>G (p.Leu223=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838537T>GCA430432131FRZBc.669A>C (p.Leu223=)
2g.182838537T=CA1312515892FRZBc.669A= (p.Leu223=)
2g.182838538A>CCA349750682FRZBc.668T>G (p.Leu223Arg)
gnomAD v4
2g.182838538A>GCA349750684FRZBc.668T>C (p.Leu223Pro)
2g.182838538A>TCA349750686FRZBc.668T>A (p.Leu223Gln)
2g.182838539G>ACA430432132FRZBc.667C>T (p.Leu223=)
2g.182838539G>CCA349750688FRZBc.667C>G (p.Leu223Val)
COSMIC
2g.182838539G>TCA349750689FRZBc.667C>A (p.Leu223Ile)
2g.182838540A=CA1312515893FRZBc.666T= (p.Ile222=)
2g.182838540A>CCA349750691FRZBc.666T>G (p.Ile222Met)
2g.182838540A>GCA430432133FRZBc.666T>C (p.Ile222=)
dbSNP gnomAD v2 gnomAD v4
2g.182838540A>TCA430432134FRZBc.666T>A (p.Ile222=)
gnomAD v4
2g.182838541A=CA1312515894FRZBc.665T= (p.Ile222=)
2g.182838541A>CCA349750697FRZBc.665T>G (p.Ile222Ser)
gnomAD v4
2g.182838541A>GCA349750693FRZBc.665T>C (p.Ile222Thr)
gnomAD v4
2g.182838541A>TCA61680210FRZBc.665T>A (p.Ile222Asn)
dbSNP gnomAD v4
2g.182838542T>ACA349750699FRZBc.664A>T (p.Ile222Phe)
2g.182838542T>CCA349750701FRZBc.664A>G (p.Ile222Val)
2g.182838542T>GCA349750703FRZBc.664A>C (p.Ile222Leu)
2g.182838543C>ACA349750705FRZBc.663G>T (p.Glu221Asp)
2g.182838543C>GCA349750707FRZBc.663G>C (p.Glu221Asp)
gnomAD v4
2g.182838543C>TCA430432135FRZBc.663G>A (p.Glu221=)
gnomAD v4
2g.182838544T>ACA349750709FRZBc.662A>T (p.Glu221Val)
2g.182838544T>CCA349750711FRZBc.662A>G (p.Glu221Gly)
2g.182838544T>GCA349750713FRZBc.662A>C (p.Glu221Ala)
2g.182838545C>ACA349750715FRZBc.661G>T (p.Glu221Ter)
2g.182838545C=CA1312515895FRZBc.661G= (p.Glu221=)
2g.182838545C>GCA2013957FRZBc.661G>C (p.Glu221Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838545C>TCA2013958FRZBc.661G>A (p.Glu221Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838546C>ACA349750723FRZBc.660G>T (p.Lys220Asn)
2g.182838546C=CA1312515896FRZBc.660G= (p.Lys220=)
2g.182838546C>GCA349750721FRZBc.660G>C (p.Lys220Asn)
2g.182838546C>TCA2013959FRZBc.660G>A (p.Lys220=)
dbSNP ExAC gnomAD v2
2g.182838547T>ACA349750725FRZBc.659A>T (p.Lys220Met)
2g.182838547T>CCA349750727FRZBc.659A>G (p.Lys220Arg)
2g.182838547T>GCA349750728FRZBc.659A>C (p.Lys220Thr)
dbSNP gnomAD v3 gnomAD v4
2g.182838547T=CA1312515897FRZBc.659A= (p.Lys220=)
2g.182838548T>ACA349750731FRZBc.658A>T (p.Lys220Ter)
2g.182838548T>CCA349750733FRZBc.658A>G (p.Lys220Glu)
gnomAD v4
2g.182838548T>GCA349750734FRZBc.658A>C (p.Lys220Gln)
2g.182838549C>ACA430432136FRZBc.657G>T (p.Val219=)
2g.182838549C=CA1312515898FRZBc.657G= (p.Val219=)
2g.182838549C>GCA430432137FRZBc.657G>C (p.Val219=)
2g.182838549C>TCA430432138FRZBc.657G>A (p.Val219=)
dbSNP gnomAD v4
2g.182838550A=CA1312515899FRZBc.656T= (p.Val219=)
2g.182838550A>CCA349750737FRZBc.656T>G (p.Val219Gly)
dbSNP gnomAD v4
2g.182838550A>GCA349750738FRZBc.656T>C (p.Val219Ala)
2g.182838550A>TCA349750740FRZBc.656T>A (p.Val219Glu)
gnomAD v4
2g.182838551C>ACA349750742FRZBc.655G>T (p.Val219Leu)
2g.182838551C>GCA349750744FRZBc.655G>C (p.Val219Leu)
2g.182838551C>TCA349750746FRZBc.655G>A (p.Val219Met)
2g.182838552C>ACA349750748FRZBc.654G>T (p.Glu218Asp)
2g.182838552C>GCA349750750FRZBc.654G>C (p.Glu218Asp)
2g.182838552C>TCA430432143FRZBc.654G>A (p.Glu218=)
gnomAD v4
2g.182838553T>ACA349750753FRZBc.653A>T (p.Glu218Val)
2g.182838553T>CCA349750755FRZBc.653A>G (p.Glu218Gly)
2g.182838553T>GCA349750751FRZBc.653A>C (p.Glu218Ala)
2g.182838554C>ACA349750757FRZBc.652G>T (p.Glu218Ter)
2g.182838554C>GCA349750759FRZBc.652G>C (p.Glu218Gln)
2g.182838554C>TCA349750761FRZBc.652G>A (p.Glu218Lys)
2g.182838555C>ACA430432144FRZBc.651G>T (p.Val217=)
2g.182838555C=CA1312515900FRZBc.651G= (p.Val217=)
2g.182838555C>GCA430432145FRZBc.651G>C (p.Val217=)
2g.182838555C>TCA430432146FRZBc.651G>A (p.Val217=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838556A>CCA349750763FRZBc.650T>G (p.Val217Gly)
2g.182838556A>GCA349750765FRZBc.650T>C (p.Val217Ala)
gnomAD v4
2g.182838556A>TCA349750767FRZBc.650T>A (p.Val217Glu)
2g.182838557C>ACA349750769FRZBc.649G>T (p.Val217Leu)
2g.182838557C>GCA349750771FRZBc.649G>C (p.Val217Leu)
2g.182838557C>TCA349750773FRZBc.649G>A (p.Val217Met)
2g.182838558T>ACA430432147FRZBc.648A>T (p.Val216=)
2g.182838558T>CCA430432149FRZBc.648A>G (p.Val216=)
dbSNP gnomAD v2 gnomAD v4
2g.182838558T>GCA430432150FRZBc.648A>C (p.Val216=)
2g.182838558T=CA1312515901FRZBc.648A= (p.Val216=)
2g.182838558_182838559insTAATGTTACA1312515902FRZBc.647_648insTAACATTA (p.Val217AsnfsTer6)
dbSNP
2g.182838558_182838559insTAATGTTAATGAGGAATATATCATCATGGGCTATGAAGATGCA2549528365FRZBc.647_648insCATCTTCATAGCCCATGATGATATATTCCTCATTAACATTA (p.Val217IlefsTer17)
2g.182838559A>CCA349750775FRZBc.647T>G (p.Val216Gly)
2g.182838559A>GCA349750777FRZBc.647T>C (p.Val216Ala)
2g.182838559A>TCA349750780FRZBc.647T>A (p.Val216Glu)
2g.182838560C>ACA349750785FRZBc.646G>T (p.Val216Leu)
2g.182838560C>GCA349750781FRZBc.646G>C (p.Val216Leu)
2g.182838560C>TCA349750783FRZBc.646G>A (p.Val216Ile)
2g.182838561T>ACA430432152FRZBc.645A>T (p.Ala215=)
2g.182838561T>CCA430432154FRZBc.645A>G (p.Ala215=)
2g.182838561T>GCA430432156FRZBc.645A>C (p.Ala215=)
2g.182838562G>ACA349750787FRZBc.644C>T (p.Ala215Val)
2g.182838562G>CCA349750789FRZBc.644C>G (p.Ala215Gly)
2g.182838562G>TCA349750790FRZBc.644C>A (p.Ala215Glu)
2g.182838563C>ACA2013960FRZBc.643G>T (p.Ala215Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838563C=CA1312515903FRZBc.643G= (p.Ala215=)
2g.182838563C>GCA349750793FRZBc.643G>C (p.Ala215Pro)
2g.182838563C>TCA349750794FRZBc.643G>A (p.Ala215Thr)
dbSNP gnomAD v2 gnomAD v4
2g.182838564A=CA1312515904FRZBc.642T= (p.Thr214=)
2g.182838564A>CCA2013962FRZBc.642T>G (p.Thr214=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838564A>GCA2013961FRZBc.642T>C (p.Thr214=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838564A>TCA430432157FRZBc.642T>A (p.Thr214=)
2g.182838565G>ACA349750799FRZBc.641C>T (p.Thr214Ile)
gnomAD v4
2g.182838565G>CCA349750800FRZBc.641C>G (p.Thr214Ser)
2g.182838565G>TCA349750802FRZBc.641C>A (p.Thr214Asn)
2g.182838566T>ACA349750808FRZBc.640A>T (p.Thr214Ser)
2g.182838566T>CCA349750806FRZBc.640A>G (p.Thr214Ala)
gnomAD v4
2g.182838566T>GCA349750804FRZBc.640A>C (p.Thr214Pro)
2g.182838567C>ACA430432160FRZBc.639G>T (p.Val213=)
2g.182838567C=CA1312515905FRZBc.639G= (p.Val213=)
2g.182838567C>GCA430432161FRZBc.639G>C (p.Val213=)
2g.182838567C>TCA430432162FRZBc.639G>A (p.Val213=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838568A>CCA349750810FRZBc.638T>G (p.Val213Gly)
2g.182838568A>GCA349750815FRZBc.638T>C (p.Val213Ala)
2g.182838568A>TCA349750812FRZBc.638T>A (p.Val213Glu)
2g.182838569C>ACA349750816FRZBc.637G>T (p.Val213Leu)
2g.182838569C=CA1312515906FRZBc.637G= (p.Val213=)
2g.182838569C>GCA349750817FRZBc.637G>C (p.Val213Leu)
2g.182838569C>TCA2013963FRZBc.637G>A (p.Val213Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838570A=CA1312515907FRZBc.636T= (p.Asp212=)
2g.182838570A>CCA349750818FRZBc.636T>G (p.Asp212Glu)
2g.182838570A>GCA430432167FRZBc.636T>C (p.Asp212=)
dbSNP
2g.182838570A>TCA349750819FRZBc.636T>A (p.Asp212Glu)
gnomAD v4
2g.182838570_182838571insCCA2662236420FRZBc.635_636insG (p.Asp212GlufsTer?)
gnomAD v4
2g.182838571T>ACA349750820FRZBc.635A>T (p.Asp212Val)
gnomAD v4
2g.182838571T>CCA349750821FRZBc.635A>G (p.Asp212Gly)
gnomAD v4
2g.182838571T>GCA349750822FRZBc.635A>C (p.Asp212Ala)
2g.182838572C>ACA349750823FRZBc.634G>T (p.Asp212Tyr)
2g.182838572C>GCA349750824FRZBc.634G>C (p.Asp212His)
2g.182838572C>TCA349750825FRZBc.634G>A (p.Asp212Asn)
2g.182838573A>CCA349750826FRZBc.633T>G (p.His211Gln)
2g.182838573A>GCA430432170FRZBc.633T>C (p.His211=)
2g.182838573A>TCA349750827FRZBc.633T>A (p.His211Gln)
2g.182838574T>ACA349750830FRZBc.632A>T (p.His211Leu)
2g.182838574T>CCA349750829FRZBc.632A>G (p.His211Arg)
gnomAD v4
2g.182838574T>GCA349750828FRZBc.632A>C (p.His211Pro)
2g.182838575G>ACA2013964FRZBc.631C>T (p.His211Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.182838575G>CCA349750831FRZBc.631C>G (p.His211Asp)
2g.182838575G=CA1312515908FRZBc.631C= (p.His211=)
2g.182838575G>TCA349750832FRZBc.631C>A (p.His211Asn)
2g.182838576G>ACA2013965FRZBc.630C>T (p.Cys210=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.182838576G>CCA349750833FRZBc.630C>G (p.Cys210Trp)
2g.182838576G=CA1312515909FRZBc.630C= (p.Cys210=)
2g.182838576G>TCA349750834FRZBc.630C>A (p.Cys210Ter)
2g.182838577C>ACA349750835FRZBc.629G>T (p.Cys210Phe)
2g.182838577C=CA1312515910FRZBc.629G= (p.Cys210=)
2g.182838577C>GCA349750836FRZBc.629G>C (p.Cys210Ser)
2g.182838577C>TCA2013966FRZBc.629G>A (p.Cys210Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838578A>CCA349750837FRZBc.628T>G (p.Cys210Gly)
2g.182838578A>GCA349750838FRZBc.628T>C (p.Cys210Arg)
2g.182838578A>TCA349750839FRZBc.628T>A (p.Cys210Ser)
2g.182838579_182838582dupCA2662236421FRZBc.625_628dup (p.Cys210Ter)
gnomAD v4
2g.182838579C>ACA349750840FRZBc.627G>T (p.Lys209Asn)
2g.182838579C>GCA349750841FRZBc.627G>C (p.Lys209Asn)
2g.182838579C>TCA430432176FRZBc.627G>A (p.Lys209=)
2g.182838580T>ACA2013967FRZBc.626A>T (p.Lys209Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838580T>CCA349750842FRZBc.626A>G (p.Lys209Arg)
2g.182838580T>GCA349750843FRZBc.626A>C (p.Lys209Thr)
2g.182838580T=CA1312515911FRZBc.626A= (p.Lys209=)
2g.182838581T>ACA349750844FRZBc.625A>T (p.Lys209Ter)
2g.182838581T>CCA61680298FRZBc.625A>G (p.Lys209Glu)
dbSNP gnomAD v2
2g.182838581T>GCA349750845FRZBc.625A>C (p.Lys209Gln)
2g.182838581T=CA1312515912FRZBc.625A= (p.Lys209=)
2g.182838582A>CCA430432179FRZBc.624T>G (p.Thr208=)
2g.182838582A>GCA430432180FRZBc.624T>C (p.Thr208=)
2g.182838582A>TCA430432181FRZBc.624T>A (p.Thr208=)
2g.182838583G>ACA61680308FRZBc.623C>T (p.Thr208Ile)
dbSNP gnomAD v4
2g.182838583G>CCA349750846FRZBc.623C>G (p.Thr208Ser)
2g.182838583G=CA1312515913FRZBc.623C= (p.Thr208=)
2g.182838583G>TCA349750847FRZBc.623C>A (p.Thr208Asn)
2g.182838584T>ACA349750848FRZBc.622A>T (p.Thr208Ser)
2g.182838584T>CCA2013968FRZBc.622A>G (p.Thr208Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838584T>GCA349750849FRZBc.622A>C (p.Thr208Pro)
2g.182838584T=CA1312515914FRZBc.622A= (p.Thr208=)
2g.182838585C>ACA349750851FRZBc.621G>T (p.Lys207Asn)
2g.182838585C=CA1312515915FRZBc.621G= (p.Lys207=)
2g.182838585C>GCA349750850FRZBc.621G>C (p.Lys207Asn)
2g.182838585C>TCA430432187FRZBc.621G>A (p.Lys207=)
dbSNP gnomAD v2 gnomAD v4
2g.182838586T>ACA349750852FRZBc.620A>T (p.Lys207Met)
2g.182838586T>CCA349750853FRZBc.620A>G (p.Lys207Arg)
2g.182838586T>GCA349750854FRZBc.620A>C (p.Lys207Thr)
2g.182838587T>ACA349750855FRZBc.619A>T (p.Lys207Ter)
2g.182838587T>CCA349750856FRZBc.619A>G (p.Lys207Glu)
dbSNP
2g.182838587T>GCA349750857FRZBc.619A>C (p.Lys207Gln)
2g.182838587T=CA1312515916FRZBc.619A= (p.Lys207=)
2g.182838588T>ACA430432191FRZBc.618A>T (p.Ile206=)
2g.182838588T>CCA349750858FRZBc.618A>G (p.Ile206Met)
2g.182838588T>GCA430432192FRZBc.618A>C (p.Ile206=)
2g.182838589A=CA1312515917FRZBc.617T= (p.Ile206=)
2g.182838589A>CCA349750859FRZBc.617T>G (p.Ile206Arg)
COSMIC
2g.182838589A>GCA349750860FRZBc.617T>C (p.Ile206Thr)
dbSNP gnomAD v2 gnomAD v4
2g.182838589A>TCA349750861FRZBc.617T>A (p.Ile206Lys)
2g.182838589_182838590insCCTGGAACGTCA2753437690FRZBc.616_617insACGTTCCAGG (p.Ile206AsnfsTer7)
2g.182838590T>ACA349750862FRZBc.616A>T (p.Ile206Leu)
2g.182838590T>CCA349750863FRZBc.616A>G (p.Ile206Val)
COSMIC
2g.182838590T>GCA349750864FRZBc.616A>C (p.Ile206Leu)
2g.182838591C>ACA349750865FRZBc.615G>T (p.Glu205Asp)
gnomAD v4
2g.182838591C=CA1312515918FRZBc.615G= (p.Glu205=)
2g.182838591C>GCA349750866FRZBc.615G>C (p.Glu205Asp)
2g.182838591C>TCA2013969FRZBc.615G>A (p.Glu205=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838591_182838592insCTCACA2753437691FRZBc.614_615insTGAG (p.Glu205AspfsTer6)
2g.182838592T>ACA349750869FRZBc.614A>T (p.Glu205Val)
2g.182838592T>CCA349750867FRZBc.614A>G (p.Glu205Gly)
2g.182838592T>GCA349750868FRZBc.614A>C (p.Glu205Ala)
2g.182838593C>ACA349750870FRZBc.613G>T (p.Glu205Ter)
2g.182838593C>GCA349750871FRZBc.613G>C (p.Glu205Gln)
2g.182838593C>TCA349750872FRZBc.613G>A (p.Glu205Lys)
2g.182838594T>ACA349750873FRZBc.612A>T (p.Lys204Asn)
2g.182838594T>CCA430432200FRZBc.612A>G (p.Lys204=)
2g.182838594T>GCA349750874FRZBc.612A>C (p.Lys204Asn)
2g.182838595T>ACA349750875FRZBc.611A>T (p.Lys204Ile)
2g.182838595T>CCA349750876FRZBc.611A>G (p.Lys204Arg)
2g.182838595T>GCA349750877FRZBc.611A>C (p.Lys204Thr)
2g.182838596T>ACA349750878FRZBc.610A>T (p.Lys204Ter)
2g.182838596T>CCA349750879FRZBc.610A>G (p.Lys204Glu)
2g.182838596T>GCA349750880FRZBc.610A>C (p.Lys204Gln)
2g.182838597A>CCA430432203FRZBc.609T>G (p.Val203=)
2g.182838597A>GCA430432204FRZBc.609T>C (p.Val203=)
2g.182838597A>TCA430432205FRZBc.609T>A (p.Val203=)
2g.182838598A>CCA349750881FRZBc.608T>G (p.Val203Gly)
2g.182838598A>GCA349750883FRZBc.608T>C (p.Val203Ala)
2g.182838598A>TCA349750882FRZBc.608T>A (p.Val203Asp)
2g.182838599C>ACA349750884FRZBc.607G>T (p.Val203Phe)
2g.182838599C>GCA349750885FRZBc.607G>C (p.Val203Leu)
2g.182838599C>TCA349750886FRZBc.607G>A (p.Val203Ile)
2g.182838600T>ACA349750887FRZBc.606A>T (p.Lys202Asn)
gnomAD v4
2g.182838600T>CCA430432221FRZBc.606A>G (p.Lys202=)
2g.182838600T>GCA349750888FRZBc.606A>C (p.Lys202Asn)
2g.182838601T>ACA349750889FRZBc.605A>T (p.Lys202Ile)
2g.182838601T>CCA349750890FRZBc.605A>G (p.Lys202Arg)
2g.182838601T>GCA349750891FRZBc.605A>C (p.Lys202Thr)
gnomAD v4
2g.182838602T>ACA349750892FRZBc.604A>T (p.Lys202Ter)
2g.182838602T>CCA349750893FRZBc.604A>G (p.Lys202Glu)
gnomAD v4
2g.182838602T>GCA349750894FRZBc.604A>C (p.Lys202Gln)
2g.182838603A>CCA430432230FRZBc.603T>G (p.Ala201=)
2g.182838603A>GCA430432233FRZBc.603T>C (p.Ala201=)
2g.182838603A>TCA430432235FRZBc.603T>A (p.Ala201=)
2g.182838604G>ACA349750896FRZBc.602C>T (p.Ala201Val)
2g.182838604G>CCA349750897FRZBc.602C>G (p.Ala201Gly)
2g.182838604G>TCA349750895FRZBc.602C>A (p.Ala201Asp)
gnomAD v4
2g.182838605C>ACA349750898FRZBc.601G>T (p.Ala201Ser)
dbSNP gnomAD v2 gnomAD v4
2g.182838605C=CA1312515919FRZBc.601G= (p.Ala201=)
2g.182838605C>GCA349750899FRZBc.601G>C (p.Ala201Pro)
2g.182838605C>TCA349750900FRZBc.601G>A (p.Ala201Thr)
2g.182838606C>ACA430432247FRZBc.600G>T (p.Arg200=)
2g.182838606C=CA1312515920FRZBc.600G= (p.Arg200=)
2g.182838606C>GCA430432245FRZBc.600G>C (p.Arg200=)
2g.182838606C>TCA430432242FRZBc.600G>A (p.Arg200=)
dbSNP
2g.182838607C>ACA349750901FRZBc.599G>T (p.Arg200Leu)
gnomAD v4 COSMIC
2g.182838607C=CA1312515921FRZBc.599G= (p.Arg200=)
2g.182838607C>GCA349750902FRZBc.599G>C (p.Arg200Pro)
2g.182838607C>TCA2013970FRZBc.599G>A (p.Arg200Gln)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.182838607_182838608insAGTCATTTGGGCTAAACA2662236422FRZBc.598_599insTTTAGCCCAAATGACT (p.Arg200LeufsTer2)
gnomAD v4
2g.182838608G>ACA117344FRZBc.598C>T (p.Arg200Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838608G>CCA349750903FRZBc.598C>G (p.Arg200Gly)
2g.182838608G=CA1312515922FRZBc.598C= (p.Arg200=)
2g.182838608G>TCA430432255FRZBc.598C>A (p.Arg200=)
2g.182838609A>CCA349750904FRZBc.597T>G (p.Ile199Met)
gnomAD v4
2g.182838609A>GCA430432256FRZBc.597T>C (p.Ile199=)
2g.182838609A>TCA430432257FRZBc.597T>A (p.Ile199=)
2g.182838610A>CCA349750905FRZBc.596T>G (p.Ile199Ser)
2g.182838610A>GCA349750906FRZBc.596T>C (p.Ile199Thr)
2g.182838610A>TCA349750907FRZBc.596T>A (p.Ile199Asn)
2g.182838611T>ACA349750909FRZBc.595A>T (p.Ile199Phe)
2g.182838611T>CCA349750910FRZBc.595A>G (p.Ile199Val)
COSMIC
2g.182838611T>GCA349750908FRZBc.595A>C (p.Ile199Leu)
2g.182838612G>ACA430432276FRZBc.594C>T (p.Val198=)
gnomAD v4
2g.182838612G>CCA430432278FRZBc.594C>G (p.Val198=)
dbSNP
2g.182838612G=CA1312515923FRZBc.594C= (p.Val198=)
2g.182838612G>TCA430432277FRZBc.594C>A (p.Val198=)
dbSNP gnomAD v2 gnomAD v4
2g.182838613A=CA1312515924FRZBc.593T= (p.Val198=)
2g.182838613A>CCA349750911FRZBc.593T>G (p.Val198Gly)
2g.182838613A>GCA2013971FRZBc.593T>C (p.Val198Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838613A>TCA349750912FRZBc.593T>A (p.Val198Asp)
2g.182838614C>ACA349750913FRZBc.593-1G>T (n.593-1G>T)
COSMIC
2g.182838614C>GCA349750914FRZBc.593-1G>C (n.593-1G>C)
2g.182838614C>TCA349750915FRZBc.593-1G>A (n.593-1G>A)

Number of alleles fetched