Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.49459216_49459228delCA2573140888MMUTc.243_255del (p.Leu81PhefsTer4)
ClinVar dbSNP
6g.49459225A>CCA364405227MMUTc.242T>G (p.Leu81Ter)
6g.49459225A>GCA364405229MMUTc.242T>C (p.Leu81Ser)
6g.49459225A>TCA364405230MMUTc.242T>A (p.Leu81Ter)
6g.49459225_49459226insCCCA2679047394MMUTc.241_242insGG (p.Leu81TrpfsTer9)
gnomAD v4
6g.49459226A=CA1627396816MMUTc.241T= (p.Leu81=)
6g.49459226A>CCA364405232MMUTc.241T>G (p.Leu81Val)
6g.49459226A>GCA138801064MMUTc.241T>C (p.Leu81=)
ClinVar dbSNP
6g.49459226A>TCA364405234MMUTc.241T>A (p.Leu81Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49459227G>ACA450609642MMUTc.240C>T (p.Asp80=)
6g.49459227G>CCA364405235MMUTc.240C>G (p.Asp80Glu)
gnomAD v4
6g.49459227G>TCA364405237MMUTc.240C>A (p.Asp80Glu)
6g.49459228T>ACA364405239MMUTc.239A>T (p.Asp80Val)
6g.49459228T>CCA364405241MMUTc.239A>G (p.Asp80Gly)
6g.49459228T>GCA364405242MMUTc.239A>C (p.Asp80Ala)
gnomAD v4
6g.49459229C>ACA364405245MMUTc.238G>T (p.Asp80Tyr)
6g.49459229C>GCA364405246MMUTc.238G>C (p.Asp80His)
gnomAD v4
6g.49459229C>TCA364405244MMUTc.238G>A (p.Asp80Asn)
6g.49459230C>ACA364405248MMUTc.237G>T (p.Met79Ile)
6g.49459230C>GCA364405249MMUTc.237G>C (p.Met79Ile)
6g.49459230C>TCA364405251MMUTc.237G>A (p.Met79Ile)
6g.49459231A=CA1627396820MMUTc.236T= (p.Met79=)
6g.49459231A>CCA364405252MMUTc.236T>G (p.Met79Arg)
6g.49459231A>GCA364405254MMUTc.236T>C (p.Met79Thr)
dbSNP gnomAD v2 gnomAD v4
6g.49459231A>TCA364405255MMUTc.236T>A (p.Met79Lys)
6g.49459232T>ACA364405258MMUTc.235A>T (p.Met79Leu)
6g.49459232T>CCA3847154MMUTc.235A>G (p.Met79Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459232T>GCA364405259MMUTc.235A>C (p.Met79Leu)
dbSNP
6g.49459232T=CA1627396823MMUTc.235A= (p.Met79=)
6g.49459233A=CA1627396827MMUTc.234T= (p.Thr78=)
6g.49459233A>CCA3847155MMUTc.234T>G (p.Thr78=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459233A>GCA3847156MMUTc.234T>C (p.Thr78=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459233A>TCA450609648MMUTc.234T>A (p.Thr78=)
6g.49459234G>ACA364405263MMUTc.233C>T (p.Thr78Ile)
6g.49459234G>CCA364405265MMUTc.233C>G (p.Thr78Ser)
6g.49459234G>TCA364405262MMUTc.233C>A (p.Thr78Asn)
6g.49459235T>ACA364405267MMUTc.232A>T (p.Thr78Ser)
6g.49459235T>CCA364405269MMUTc.232A>G (p.Thr78Ala)
dbSNP gnomAD v2 gnomAD v4
6g.49459235T>GCA364405271MMUTc.232A>C (p.Thr78Pro)
6g.49459235T=CA1627396830MMUTc.232A= (p.Thr78=)
6g.49459236A>CCA364405272MMUTc.231T>G (p.Asp77Glu)
6g.49459236A>GCA450609651MMUTc.231T>C (p.Asp77=)
6g.49459236A>TCA364405273MMUTc.231T>A (p.Asp77Glu)
6g.49459237T>ACA138801085MMUTc.230A>T (p.Asp77Val)
dbSNP gnomAD v4
6g.49459237T>CCA364405274MMUTc.230A>G (p.Asp77Gly)
dbSNP gnomAD v4
6g.49459237T>GCA364405276MMUTc.230A>C (p.Asp77Ala)
6g.49459237T=CA1627396834MMUTc.230A= (p.Asp77=)
6g.49459238C>ACA364405278MMUTc.229G>T (p.Asp77Tyr)
6g.49459238C>GCA364405280MMUTc.229G>C (p.Asp77His)
6g.49459238C>TCA364405281MMUTc.229G>A (p.Asp77Asn)
6g.49459239T>ACA364405282MMUTc.228A>T (p.Arg76Ser)
gnomAD v4
6g.49459239T>CCA450609653MMUTc.228A>G (p.Arg76=)
6g.49459239T>GCA364405284MMUTc.228A>C (p.Arg76Ser)
6g.49459240C>ACA364405289MMUTc.227G>T (p.Arg76Ile)
6g.49459240C=CA1627396838MMUTc.227G= (p.Arg76=)
6g.49459240C>GCA364405288MMUTc.227G>C (p.Arg76Thr)
dbSNP
6g.49459240C>TCA364405286MMUTc.227G>A (p.Arg76Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49459241T>ACA364405292MMUTc.226A>T (p.Arg76Ter)
6g.49459241T>CCA3847157MMUTc.226A>G (p.Arg76Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459241T>GCA450609654MMUTc.226A>C (p.Arg76=)
6g.49459241T=CA1627396842MMUTc.226A= (p.Arg76=)
6g.49459242C>ACA364405293MMUTc.225G>T (p.Lys75Asn)
6g.49459242C=CA1627396846MMUTc.225G= (p.Lys75=)
6g.49459242C>GCA364405294MMUTc.225G>C (p.Lys75Asn)
6g.49459242C>TCA450609659MMUTc.225G>A (p.Lys75=)
dbSNP
6g.49459243T>ACA364405297MMUTc.224A>T (p.Lys75Met)
6g.49459243T>CCA364405299MMUTc.224A>G (p.Lys75Arg)
dbSNP
6g.49459243T>GCA364405300MMUTc.224A>C (p.Lys75Thr)
6g.49459243T=CA1627396851MMUTc.224A= (p.Lys75=)
6g.49459244delCA2695206699MMUTc.224del (p.Lys75ArgfsTer14)
6g.49459244T>ACA364405301MMUTc.223A>T (p.Lys75Ter)
6g.49459244T>CCA364405303MMUTc.223A>G (p.Lys75Glu)
dbSNP gnomAD v2 gnomAD v4
6g.49459244T>GCA364405304MMUTc.223A>C (p.Lys75Gln)
6g.49459244T=CA1627396854MMUTc.223A= (p.Lys75=)
6g.49459245G>ACA3847158MMUTc.222C>T (p.Ser74=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459245G>CCA450609662MMUTc.222C>G (p.Ser74=)
6g.49459245G=CA1627396856MMUTc.222C= (p.Ser74=)
6g.49459245G>TCA450609664MMUTc.222C>A (p.Ser74=)
6g.49459246G>ACA364405306MMUTc.221C>T (p.Ser74Phe)
gnomAD v4
6g.49459246G>CCA364405307MMUTc.221C>G (p.Ser74Cys)
6g.49459246G>TCA364405309MMUTc.221C>A (p.Ser74Tyr)
6g.49459247A=CA1627396861MMUTc.220T= (p.Ser74=)
6g.49459247A>CCA3847159MMUTc.220T>G (p.Ser74Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459247A>GCA364405313MMUTc.220T>C (p.Ser74Pro)
6g.49459247A>TCA364405312MMUTc.220T>A (p.Ser74Thr)
6g.49459248A>CCA364405315MMUTc.219T>G (p.Tyr73Ter)
6g.49459248A>GCA450609670MMUTc.219T>C (p.Tyr73=)
6g.49459248A>TCA364405317MMUTc.219T>A (p.Tyr73Ter)
6g.49459249T>ACA364405318MMUTc.218A>T (p.Tyr73Phe)
6g.49459249T>CCA364405319MMUTc.218A>G (p.Tyr73Cys)
dbSNP gnomAD v3 gnomAD v4
6g.49459249T>GCA364405322MMUTc.218A>C (p.Tyr73Ser)
6g.49459249T=CA1627396864MMUTc.218A= (p.Tyr73=)
6g.49459250A>CCA364405324MMUTc.217T>G (p.Tyr73Asp)
6g.49459250A>GCA364405325MMUTc.217T>C (p.Tyr73His)
6g.49459250A>TCA364405327MMUTc.217T>A (p.Tyr73Asn)
6g.49459251C>ACA364405329MMUTc.216G>T (p.Leu72Phe)
dbSNP gnomAD v2 gnomAD v4
6g.49459251C=CA1627396867MMUTc.216G= (p.Leu72=)
6g.49459251C>GCA364405330MMUTc.216G>C (p.Leu72Phe)
6g.49459251C>TCA450609673MMUTc.216G>A (p.Leu72=)
ClinVar dbSNP
6g.49459252A=CA1627396871MMUTc.215T= (p.Leu72=)
6g.49459252A>CCA364405332MMUTc.215T>G (p.Leu72Trp)
6g.49459252A>GCA3847160MMUTc.215T>C (p.Leu72Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459252A>TCA364405331MMUTc.215T>A (p.Leu72Ter)
6g.49459253A>CCA364405333MMUTc.214T>G (p.Leu72Val)
6g.49459253A>GCA450609675MMUTc.214T>C (p.Leu72=)
6g.49459253A>TCA364405336MMUTc.214T>A (p.Leu72Met)
6g.49459254G>ACA450609676MMUTc.213C>T (p.Pro71=)
ClinVar dbSNP gnomAD v4
6g.49459254G>CCA450609679MMUTc.213C>G (p.Pro71=)
dbSNP gnomAD v4
6g.49459254G=CA1627396877MMUTc.213C= (p.Pro71=)
6g.49459254G>TCA450609682MMUTc.213C>A (p.Pro71=)
6g.49459256delCA2679047395MMUTc.213del (p.Leu72CysfsTer17)
gnomAD v4
6g.49459254_49459257dupCA2697553433MMUTc.210_213dup (p.Leu72ThrfsTer13)
ClinVar
6g.49459255G>ACA364405337MMUTc.212C>T (p.Pro71Leu)
dbSNP gnomAD v4
6g.49459255G>CCA364405338MMUTc.212C>G (p.Pro71Arg)
6g.49459255G=CA1627396885MMUTc.212C= (p.Pro71=)
6g.49459255G>TCA364405339MMUTc.212C>A (p.Pro71His)
6g.49459256G>ACA364405344MMUTc.211C>T (p.Pro71Ser)
6g.49459256G>CCA364405343MMUTc.211C>G (p.Pro71Ala)
6g.49459256G=CA1627396888MMUTc.211C= (p.Pro71=)
6g.49459256G>TCA364405341MMUTc.211C>A (p.Pro71Thr)
6g.49459257T>ACA364405346MMUTc.210A>T (p.Lys70Asn)
6g.49459257T>CCA450609684MMUTc.210A>G (p.Lys70=)
dbSNP
6g.49459257T>GCA364405348MMUTc.210A>C (p.Lys70Asn)
6g.49459257T=CA1627396893MMUTc.210A= (p.Lys70=)
6g.49459260dupCA3847161MMUTc.210dup (p.Pro71ThrfsTer13)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459258T>ACA364405350MMUTc.209A>T (p.Lys70Ile)
6g.49459258T>CCA364405351MMUTc.209A>G (p.Lys70Arg)
6g.49459258T>GCA364405352MMUTc.209A>C (p.Lys70Thr)
6g.49459259T>ACA364405355MMUTc.208A>T (p.Lys70Ter)
6g.49459259T>CCA364405358MMUTc.208A>G (p.Lys70Glu)
6g.49459259T>GCA364405356MMUTc.208A>C (p.Lys70Gln)
6g.49459260T>ACA450609687MMUTc.207A>T (p.Ile69=)
6g.49459260T>CCA3847162MMUTc.207A>G (p.Ile69Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459260T>GCA450609688MMUTc.207A>C (p.Ile69=)
6g.49459260T=CA1627396898MMUTc.207A= (p.Ile69=)
6g.49459261A>CCA364405361MMUTc.206T>G (p.Ile69Arg)
6g.49459261A>GCA364405363MMUTc.206T>C (p.Ile69Thr)
6g.49459261A>TCA364405365MMUTc.206T>A (p.Ile69Lys)
6g.49459262T>ACA364405368MMUTc.205A>T (p.Ile69Leu)
6g.49459262T>CCA3847163MMUTc.205A>G (p.Ile69Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.49459262T>GCA364405370MMUTc.205A>C (p.Ile69Leu)
6g.49459262T=CA1627396901MMUTc.205A= (p.Ile69=)
6g.49459262_49459264delinsTAGCA1627396905MMUTc.203_205delinsCTA (p.Ser68=)
6g.49459263A=CA1627396909MMUTc.204T= (p.Ser68=)
6g.49459263A>CCA450609691MMUTc.204T>G (p.Ser68=)
gnomAD v4
6g.49459263A>GCA3847164MMUTc.204T>C (p.Ser68=)
ClinVar dbSNP ExAC gnomAD v4
6g.49459263A>TCA450609694MMUTc.204T>A (p.Ser68=)
6g.49459266_49459267delCA1627396907MMUTc.203_204del (p.Ser68TyrfsTer15)
dbSNP
6g.49459264G>ACA364405375MMUTc.203C>T (p.Ser68Phe)
gnomAD v4
6g.49459264G>CCA364405377MMUTc.203C>G (p.Ser68Cys)
6g.49459264G>TCA364405379MMUTc.203C>A (p.Ser68Tyr)
6g.49459265A>CCA364405386MMUTc.202T>G (p.Ser68Ala)
6g.49459265A>GCA364405385MMUTc.202T>C (p.Ser68Pro)
6g.49459265A>TCA364405383MMUTc.202T>A (p.Ser68Thr)
6g.49459266G>ACA450609699MMUTc.201C>T (p.Ile67=)
6g.49459266G>CCA364405387MMUTc.201C>G (p.Ile67Met)
gnomAD v4 COSMIC
6g.49459266G>TCA450609700MMUTc.201C>A (p.Ile67=)
6g.49459267A=CA1627396911MMUTc.200T= (p.Ile67=)
6g.49459267A>CCA3847165MMUTc.200T>G (p.Ile67Ser)
dbSNP ExAC gnomAD v2
6g.49459267A>GCA364405390MMUTc.200T>C (p.Ile67Thr)
6g.49459267A>TCA364405394MMUTc.200T>A (p.Ile67Asn)
gnomAD v4
6g.49459268T>ACA364405395MMUTc.199A>T (p.Ile67Phe)
6g.49459268T>CCA138801106MMUTc.199A>G (p.Ile67Val)
dbSNP gnomAD v3 gnomAD v4
6g.49459268T>GCA364405400MMUTc.199A>C (p.Ile67Leu)
6g.49459268T=CA1627396917MMUTc.199A= (p.Ile67=)
6g.49459268_49459269delinsTCCA1627396919MMUTc.198_199delinsGA (p.Gly66=)
6g.49459269C>ACA450609706MMUTc.198G>T (p.Gly66=)
dbSNP
6g.49459269C=CA1627396927MMUTc.198G= (p.Gly66=)
6g.49459269C>GCA450609705MMUTc.198G>C (p.Gly66=)
6g.49459269C>TCA450609704MMUTc.198G>A (p.Gly66=)
6g.49459271delCA567156061MMUTc.198del (p.Ile67SerfsTer3)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49459270C>ACA364405402MMUTc.197G>T (p.Gly66Val)
6g.49459270C>GCA364405405MMUTc.197G>C (p.Gly66Ala)
6g.49459270C>TCA364405406MMUTc.197G>A (p.Gly66Glu)
gnomAD v4
6g.49459271C>ACA364405409MMUTc.196G>T (p.Gly66Trp)
6g.49459271C=CA1627396929MMUTc.196G= (p.Gly66=)
6g.49459271C>GCA364405412MMUTc.196G>C (p.Gly66Arg)
gnomAD v4
6g.49459271C>TCA3847166MMUTc.196G>A (p.Gly66Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459272T>ACA364405415MMUTc.195A>T (p.Glu65Asp)
gnomAD v4
6g.49459272T>CCA450609712MMUTc.195A>G (p.Glu65=)
6g.49459272T>GCA364405418MMUTc.195A>C (p.Glu65Asp)
6g.49459273T>ACA364405423MMUTc.194A>T (p.Glu65Val)
6g.49459273T>CCA364405420MMUTc.194A>G (p.Glu65Gly)
6g.49459273T>GCA364405421MMUTc.194A>C (p.Glu65Ala)
6g.49459274C>ACA364405425MMUTc.193G>T (p.Glu65Ter)
6g.49459274C>GCA364405427MMUTc.193G>C (p.Glu65Gln)
6g.49459274C>TCA364405429MMUTc.193G>A (p.Glu65Lys)
6g.49459275C>ACA450609715MMUTc.192G>T (p.Pro64=)
6g.49459275C=CA1627396937MMUTc.192G= (p.Pro64=)
6g.49459275C>GCA450609716MMUTc.192G>C (p.Pro64=)
6g.49459275C>TCA3847167MMUTc.192G>A (p.Pro64=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459275_49459276delinsCGCA1627396936MMUTc.191_192delinsCG (p.Pro64=)
6g.49459276G>ACA3847168MMUTc.191C>T (p.Pro64Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.49459276G>CCA364405434MMUTc.191C>G (p.Pro64Arg)
6g.49459276G=CA1627396943MMUTc.191C= (p.Pro64=)
6g.49459276G>TCA364405435MMUTc.191C>A (p.Pro64Gln)
6g.49459279delCA1627396946MMUTc.191del (p.Pro64ArgfsTer6)
dbSNP gnomAD v4
6g.49459277G>ACA364405438MMUTc.190C>T (p.Pro64Ser)
COSMIC
6g.49459277G>CCA364405439MMUTc.190C>G (p.Pro64Ala)
6g.49459277G>TCA364405441MMUTc.190C>A (p.Pro64Thr)
6g.49459278G>ACA450609718MMUTc.189C>T (p.Thr63=)
6g.49459278G>CCA450609719MMUTc.189C>G (p.Thr63=)
6g.49459278G=CA1627396951MMUTc.189C= (p.Thr63=)
6g.49459278G>TCA3847169MMUTc.189C>A (p.Thr63=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459279G>ACA364405445MMUTc.188C>T (p.Thr63Ile)
ClinVar dbSNP gnomAD v4
6g.49459279G>CCA364405447MMUTc.188C>G (p.Thr63Ser)
6g.49459279G=CA1627396958MMUTc.188C= (p.Thr63=)
6g.49459279G>TCA364405444MMUTc.188C>A (p.Thr63Asn)
dbSNP gnomAD v3 gnomAD v4
6g.49459280T>ACA364405449MMUTc.187A>T (p.Thr63Ser)
6g.49459280T>CCA364405451MMUTc.187A>G (p.Thr63Ala)
6g.49459280T>GCA364405452MMUTc.187A>C (p.Thr63Pro)
dbSNP gnomAD v3 gnomAD v4
6g.49459280T=CA1627396964MMUTc.187A= (p.Thr63=)
6g.49459281G>ACA450609724MMUTc.186C>T (p.His62=)
dbSNP gnomAD v3 gnomAD v4
6g.49459281G>CCA364405454MMUTc.186C>G (p.His62Gln)
6g.49459281G>TCA364405456MMUTc.186C>A (p.His62Gln)
gnomAD v4
6g.49459282T>ACA364405462MMUTc.185A>T (p.His62Leu)
6g.49459282T>CCA364405460MMUTc.185A>G (p.His62Arg)
gnomAD v4
6g.49459282T>GCA364405459MMUTc.185A>C (p.His62Pro)
6g.49459283G>ACA138801151MMUTc.184C>T (p.His62Tyr)
dbSNP gnomAD v3 gnomAD v4
6g.49459283G>CCA364405464MMUTc.184C>G (p.His62Asp)
6g.49459283G=CA1627396966MMUTc.184C= (p.His62=)
6g.49459283G>TCA364405466MMUTc.184C>A (p.His62Asn)
6g.49459284C>ACA364405467MMUTc.183G>T (p.Trp61Cys)
ClinVar
6g.49459284C=CA1627396969MMUTc.183G= (p.Trp61=)
6g.49459284C>GCA364405469MMUTc.183G>C (p.Trp61Cys)
6g.49459284C>TCA3847170MMUTc.183G>A (p.Trp61Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459285C>ACA364405471MMUTc.182G>T (p.Trp61Leu)
6g.49459285C>GCA364405475MMUTc.182G>C (p.Trp61Ser)
6g.49459285C>TCA364405473MMUTc.182G>A (p.Trp61Ter)
gnomAD v4
6g.49459286A=CA1627396973MMUTc.181T= (p.Trp61=)
6g.49459286A>CCA364405477MMUTc.181T>G (p.Trp61Gly)
6g.49459286A>GCA364405478MMUTc.181T>C (p.Trp61Arg)
dbSNP gnomAD v3 gnomAD v4
6g.49459286A>TCA364405480MMUTc.181T>A (p.Trp61Arg)
gnomAD v4
6g.49459286dupCA2679047396MMUTc.181dup (p.Trp61LeufsTer23)
gnomAD v4
6g.49459287T>ACA450609730MMUTc.180A>T (p.Ile60=)
6g.49459287T>CCA364405481MMUTc.180A>G (p.Ile60Met)
6g.49459287T>GCA450609731MMUTc.180A>C (p.Ile60=)
6g.49459288A=CA1627396977MMUTc.179T= (p.Ile60=)
6g.49459288A>CCA364405483MMUTc.179T>G (p.Ile60Arg)
6g.49459288A>GCA3847171MMUTc.179T>C (p.Ile60Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459288A>TCA364405485MMUTc.179T>A (p.Ile60Lys)
6g.49459289T>ACA364405486MMUTc.178A>T (p.Ile60Leu)
6g.49459289T>CCA364405487MMUTc.178A>G (p.Ile60Val)
gnomAD v4
6g.49459289T>GCA138801154MMUTc.178A>C (p.Ile60Leu)
dbSNP gnomAD v4
6g.49459289T=CA1627396980MMUTc.178A= (p.Ile60=)
6g.49459290T>ACA450609732MMUTc.177A>T (p.Leu59=)
6g.49459290T>CCA450609733MMUTc.177A>G (p.Leu59=)
gnomAD v4
6g.49459290T>GCA3847172MMUTc.177A>C (p.Leu59=)
dbSNP ExAC gnomAD v2
6g.49459290T=CA1627396984MMUTc.177A= (p.Leu59=)
6g.49459291A=CA1627396990MMUTc.176T= (p.Leu59=)
6g.49459291A>CCA3847173MMUTc.176T>G (p.Leu59Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459291A>GCA364405491MMUTc.176T>C (p.Leu59Pro)
6g.49459291A>TCA364405489MMUTc.176T>A (p.Leu59Gln)
6g.49459291dupCA2541146814MMUTc.176dup (p.Ile60AsnfsTer24)
6g.49459292G>ACA3847174MMUTc.175C>T (p.Leu59=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459292G>CCA364405494MMUTc.175C>G (p.Leu59Val)
dbSNP gnomAD v2 gnomAD v4
6g.49459292G=CA1627396994MMUTc.175C= (p.Leu59=)
6g.49459292G>TCA364405495MMUTc.175C>A (p.Leu59Ile)
6g.49459293G>ACA450609738MMUTc.174C>T (p.Asp58=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.49459293G>CCA364405497MMUTc.174C>G (p.Asp58Glu)
6g.49459293G=CA1627396998MMUTc.174C= (p.Asp58=)
6g.49459293G>TCA364405499MMUTc.174C>A (p.Asp58Glu)
6g.49459293_49459294insGTGAGATTTTAATGTAAGACATAATATTTATGACA2529819337MMUTc.173_174insTCATAAATATTATGTCTTACATTAAAATCTCAC (p.Asp59HisfsTer8)
6g.49459294T>ACA364405500MMUTc.173A>T (p.Asp58Val)
6g.49459294T>CCA364405502MMUTc.173A>G (p.Asp58Gly)
6g.49459294T>GCA3847175MMUTc.173A>C (p.Asp58Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49459294T=CA1627397001MMUTc.173A= (p.Asp58=)
6g.49459295C>ACA364405503MMUTc.172G>T (p.Asp58Tyr)
dbSNP
6g.49459295C=CA1627397004MMUTc.172G= (p.Asp58=)
6g.49459295C>GCA364405505MMUTc.172G>C (p.Asp58His)
6g.49459295C>TCA364405507MMUTc.172G>A (p.Asp58Asn)
6g.49459296T>ACA364405509MMUTc.171A>T (p.Glu57Asp)
6g.49459296T>CCA450609741MMUTc.171A>G (p.Glu57=)
6g.49459296T>GCA364405510MMUTc.171A>C (p.Glu57Asp)
6g.49459297T>ACA364405515MMUTc.170A>T (p.Glu57Val)
6g.49459297T>CCA364405514MMUTc.170A>G (p.Glu57Gly)
6g.49459297T>GCA364405512MMUTc.170A>C (p.Glu57Ala)
6g.49459298C>ACA364405517MMUTc.169G>T (p.Glu57Ter)
6g.49459298C>GCA364405518MMUTc.169G>C (p.Glu57Gln)
6g.49459298C>TCA364405520MMUTc.169G>A (p.Glu57Lys)
6g.49459299T>ACA450609744MMUTc.168A>T (p.Pro56=)
6g.49459299T>CCA450609746MMUTc.168A>G (p.Pro56=)
ClinVar dbSNP gnomAD v4
6g.49459299T>GCA450609747MMUTc.168A>C (p.Pro56=)
6g.49459299T=CA1627397008MMUTc.168A= (p.Pro56=)
6g.49459300G>ACA364405521MMUTc.167C>T (p.Pro56Leu)
6g.49459300G>CCA364405523MMUTc.167C>G (p.Pro56Arg)
6g.49459300G>TCA364405524MMUTc.167C>A (p.Pro56Gln)
6g.49459301G>ACA364405526MMUTc.166C>T (p.Pro56Ser)
dbSNP gnomAD v4
6g.49459301G>CCA364405527MMUTc.166C>G (p.Pro56Ala)
6g.49459301G=CA1627397012MMUTc.166C= (p.Pro56=)
6g.49459301G>TCA364405529MMUTc.166C>A (p.Pro56Thr)
6g.49459302G>ACA450609748MMUTc.165C>T (p.Asn55=)
dbSNP gnomAD v2 gnomAD v4
6g.49459302G>CCA364405530MMUTc.165C>G (p.Asn55Lys)
6g.49459302G=CA1627397020MMUTc.165C= (p.Asn55=)
6g.49459302G>TCA235520MMUTc.165C>A (p.Asn55Lys)
ClinVar dbSNP
6g.49459303T>ACA364405532MMUTc.164A>T (p.Asn55Ile)
6g.49459303T>CCA364405534MMUTc.164A>G (p.Asn55Ser)
6g.49459303T>GCA364405535MMUTc.164A>C (p.Asn55Thr)
6g.49459307delCA2695206700MMUTc.164del (p.Asn55ThrfsTer5)
6g.49459304T>ACA364405538MMUTc.163A>T (p.Asn55Tyr)
6g.49459304T>CCA364405539MMUTc.163A>G (p.Asn55Asp)
6g.49459304T>GCA364405537MMUTc.163A>C (p.Asn55His)
6g.49459305T>ACA364405540MMUTc.162A>T (p.Lys54Asn)
6g.49459305T>CCA450609751MMUTc.162A>G (p.Lys54=)
6g.49459305T>GCA364405542MMUTc.162A>C (p.Lys54Asn)
6g.49459308_49459313delCA2580075516MMUTc.157_162del (p.Gly53_Lys54del)
ClinVar
6g.49459306T>ACA364405543MMUTc.161A>T (p.Lys54Ile)
6g.49459306T>CCA3847176MMUTc.161A>G (p.Lys54Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459306T>GCA364405545MMUTc.161A>C (p.Lys54Thr)
6g.49459306T=CA1627397023MMUTc.161A= (p.Lys54=)
6g.49459307T>ACA364405547MMUTc.160A>T (p.Lys54Ter)
ClinVar dbSNP gnomAD v4
6g.49459307T>CCA364405549MMUTc.160A>G (p.Lys54Glu)
6g.49459307T>GCA364405550MMUTc.160A>C (p.Lys54Gln)
6g.49459307T=CA1627397028MMUTc.160A= (p.Lys54=)
6g.49459308G>ACA450609759MMUTc.159C>T (p.Gly53=)
6g.49459308G>CCA450609758MMUTc.159C>G (p.Gly53=)
gnomAD v4
6g.49459308G>TCA450609756MMUTc.159C>A (p.Gly53=)
6g.49459309C>ACA364405552MMUTc.158G>T (p.Gly53Val)
6g.49459309C>GCA364405553MMUTc.158G>C (p.Gly53Ala)
6g.49459309C>TCA364405556MMUTc.158G>A (p.Gly53Asp)
6g.49459310C>ACA364405562MMUTc.157G>T (p.Gly53Cys)
6g.49459310C>GCA364405560MMUTc.157G>C (p.Gly53Arg)
6g.49459310C>TCA364405558MMUTc.157G>A (p.Gly53Ser)
6g.49459311T>ACA364405563MMUTc.156A>T (p.Lys52Asn)
6g.49459311T>CCA450609763MMUTc.156A>G (p.Lys52=)
6g.49459311T>GCA364405564MMUTc.156A>C (p.Lys52Asn)
6g.49459312T>ACA364405566MMUTc.155A>T (p.Lys52Ile)
6g.49459312T>CCA364405568MMUTc.155A>G (p.Lys52Arg)
dbSNP gnomAD v4
6g.49459312T>GCA364405569MMUTc.155A>C (p.Lys52Thr)
6g.49459312T=CA1627397035MMUTc.155A= (p.Lys52=)
6g.49459313T>ACA364405571MMUTc.154A>T (p.Lys52Ter)
6g.49459313T>CCA364405573MMUTc.154A>G (p.Lys52Glu)
6g.49459313T>GCA364405575MMUTc.154A>C (p.Lys52Gln)
6g.49459314C>ACA450609767MMUTc.153G>T (p.Leu51=)
COSMIC
6g.49459314C>GCA450609769MMUTc.153G>C (p.Leu51=)
6g.49459314C>TCA450609768MMUTc.153G>A (p.Leu51=)
6g.49459315A>CCA364405576MMUTc.152T>G (p.Leu51Arg)
6g.49459315A>GCA364405577MMUTc.152T>C (p.Leu51Pro)
6g.49459315A>TCA364405578MMUTc.152T>A (p.Leu51Gln)
6g.49459316G>ACA450609774MMUTc.151C>T (p.Leu51=)
dbSNP
6g.49459316G>CCA364405579MMUTc.151C>G (p.Leu51Val)
6g.49459316G>TCA364405581MMUTc.151C>A (p.Leu51Met)
6g.49459317C>ACA364405582MMUTc.150G>T (p.Gln50His)
6g.49459317C=CA1627397038MMUTc.150G= (p.Gln50=)
6g.49459317C>GCA3847177MMUTc.150G>C (p.Gln50His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459317C>TCA450609776MMUTc.150G>A (p.Gln50=)
gnomAD v4
6g.49459318T>ACA364405584MMUTc.149A>T (p.Gln50Leu)
6g.49459318T>CCA364405587MMUTc.149A>G (p.Gln50Arg)
6g.49459318T>GCA364405586MMUTc.149A>C (p.Gln50Pro)
6g.49459319G>ACA364405589MMUTc.148C>T (p.Gln50Ter)
gnomAD v4
6g.49459319G>CCA364405590MMUTc.148C>G (p.Gln50Glu)
6g.49459319G>TCA364405591MMUTc.148C>A (p.Gln50Lys)
6g.49459320C>ACA364405592MMUTc.147G>T (p.Lys49Asn)
6g.49459320C>GCA364405593MMUTc.147G>C (p.Lys49Asn)
gnomAD v4
6g.49459320C>TCA450609782MMUTc.147G>A (p.Lys49=)
gnomAD v4
6g.49459321T>ACA364405595MMUTc.146A>T (p.Lys49Met)
6g.49459321T>CCA364405597MMUTc.146A>G (p.Lys49Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49459321T>GCA364405598MMUTc.146A>C (p.Lys49Thr)
6g.49459321T=CA1627397041MMUTc.146A= (p.Lys49=)
6g.49459325dupCA913187319MMUTc.146dup (p.Gln50AlafsTer?)
6g.49459322T>ACA364405599MMUTc.145A>T (p.Lys49Ter)
6g.49459322T>CCA364405600MMUTc.145A>G (p.Lys49Glu)
6g.49459322T>GCA364405601MMUTc.145A>C (p.Lys49Gln)
6g.49459323T>ACA364405603MMUTc.144A>T (p.Lys48Asn)
6g.49459323T>CCA450609783MMUTc.144A>G (p.Lys48=)
6g.49459323T>GCA364405605MMUTc.144A>C (p.Lys48Asn)
6g.49459324T>ACA364405609MMUTc.143A>T (p.Lys48Ile)
6g.49459324T>CCA364405606MMUTc.143A>G (p.Lys48Arg)
6g.49459324T>GCA364405608MMUTc.143A>C (p.Lys48Thr)
6g.49459325T>ACA364405611MMUTc.142A>T (p.Lys48Ter)
6g.49459325T>CCA364405613MMUTc.142A>G (p.Lys48Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49459325T>GCA364405614MMUTc.142A>C (p.Lys48Gln)
6g.49459325T=CA1627397045MMUTc.142A= (p.Lys48=)

Number of alleles fetched