Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112815527_112815542delinsCAGTGTTTTGAGTTCTCA1573484656APCc.867_882delinsCAGTGTTTTGAGTTCT (p.Ala289=)
n.923_938delinsCAGTGTTTTGAGTTCT
c.*873_*888delinsCAGTGTTTTGAGTTCT (n.*873_*888delinsCAGTGTTTTGAGTTCT)
c.813_828delinsCAGTGTTTTGAGTTCT (p.Ala271=)
c.*189_*204delinsCAGTGTTTTGAGTTCT (n.*189_*204delinsCAGTGTTTTGAGTTCT)
c.897_912delinsCAGTGTTTTGAGTTCT (p.Ala299=)
c.792_807delinsCAGTGTTTTGAGTTCT (p.Ala264=)
c.783_798delinsCAGTGTTTTGAGTTCT (p.Ala261=)
c.690_705delinsCAGTGTTTTGAGTTCT (p.Ala230=)
c.18_33delinsCAGTGTTTTGAGTTCT (p.Ala6=)
5g.112815531_112815545delCA915943467APCc.871_885del (p.Val291_Ser295del)
n.927_941del
c.*877_*891del (n.*877_*891del)
c.817_831del (p.Val273_Ser277del)
c.*193_*207del (n.*193_*207del)
c.901_915del (p.Val301_Ser305del)
c.796_810del (p.Val266_Ser270del)
c.787_801del (p.Val263_Ser267del)
c.694_708del (p.Val232_Ser236del)
c.22_36del (p.Val8_Ser12del)
 ClinVar dbSNP
5g.112815530T>ACA16023221APCc.870T>A (p.Ser290Arg)
n.926T>A
c.*876T>A (n.*876T>A)
c.816T>A (p.Ser272Arg)
c.*192T>A (n.*192T>A)
c.900T>A (p.Ser300Arg)
c.795T>A (p.Ser265Arg)
c.786T>A (p.Ser262Arg)
c.693T>A (p.Ser231Arg)
c.21T>A (p.Ser7Arg)
 ClinVar dbSNP
5g.112815530T>CCA335771APCc.870T>C (p.Ser290=)
n.926T>C
c.*876T>C (n.*876T>C)
c.816T>C (p.Ser272=)
c.*192T>C (n.*192T>C)
c.900T>C (p.Ser300=)
c.795T>C (p.Ser265=)
c.786T>C (p.Ser262=)
c.693T>C (p.Ser231=)
c.21T>C (p.Ser7=)
 ClinVar dbSNP gnomAD v4
5g.112815530T>GCA16023222APCc.870T>G (p.Ser290Arg)
n.926T>G
c.*876T>G (n.*876T>G)
c.816T>G (p.Ser272Arg)
c.*192T>G (n.*192T>G)
c.900T>G (p.Ser300Arg)
c.795T>G (p.Ser265Arg)
c.786T>G (p.Ser262Arg)
c.693T>G (p.Ser231Arg)
c.21T>G (p.Ser7Arg)
 dbSNP
5g.112815530T=CA1573484684APCc.870T= (p.Ser290=)
n.926T=
c.*876T= (n.*876T=)
c.816T= (p.Ser272=)
c.*192T= (n.*192T=)
c.900T= (p.Ser300=)
c.795T= (p.Ser265=)
c.786T= (p.Ser262=)
c.693T= (p.Ser231=)
c.21T= (p.Ser7=)
5g.112815530_112815537delinsTGTTTTGACA1573484691APCc.870_877delinsTGTTTTGA (p.Ser290=)
n.926_933delinsTGTTTTGA
c.*876_*883delinsTGTTTTGA (n.*876_*883delinsTGTTTTGA)
c.816_823delinsTGTTTTGA (p.Ser272=)
c.*192_*199delinsTGTTTTGA (n.*192_*199delinsTGTTTTGA)
c.900_907delinsTGTTTTGA (p.Ser300=)
c.795_802delinsTGTTTTGA (p.Ser265=)
c.786_793delinsTGTTTTGA (p.Ser262=)
c.693_700delinsTGTTTTGA (p.Ser231=)
c.21_28delinsTGTTTTGA (p.Ser7=)
5g.112815531G>ACA16023223APCc.871G>A (p.Val291Ile)
n.927G>A
c.*877G>A (n.*877G>A)
c.817G>A (p.Val273Ile)
c.*193G>A (n.*193G>A)
c.901G>A (p.Val301Ile)
c.796G>A (p.Val266Ile)
c.787G>A (p.Val263Ile)
c.694G>A (p.Val232Ile)
c.22G>A (p.Val8Ile)
5g.112815531G>CCA16023224APCc.871G>C (p.Val291Leu)
n.927G>C
c.*877G>C (n.*877G>C)
c.817G>C (p.Val273Leu)
c.*193G>C (n.*193G>C)
c.901G>C (p.Val301Leu)
c.796G>C (p.Val266Leu)
c.787G>C (p.Val263Leu)
c.694G>C (p.Val232Leu)
c.22G>C (p.Val8Leu)
5g.112815531G>TCA16023225APCc.871G>T (p.Val291Phe)
n.927G>T
c.*877G>T (n.*877G>T)
c.817G>T (p.Val273Phe)
c.*193G>T (n.*193G>T)
c.901G>T (p.Val301Phe)
c.796G>T (p.Val266Phe)
c.787G>T (p.Val263Phe)
c.694G>T (p.Val232Phe)
c.22G>T (p.Val8Phe)
 COSMIC
5g.112815531_112815532delinsGTCA1573484700APCc.871_872delinsGT (p.Val291=)
n.927_928delinsGT
c.*877_*878delinsGT (n.*877_*878delinsGT)
c.817_818delinsGT (p.Val273=)
c.*193_*194delinsGT (n.*193_*194delinsGT)
c.901_902delinsGT (p.Val301=)
c.796_797delinsGT (p.Val266=)
c.787_788delinsGT (p.Val263=)
c.694_695delinsGT (p.Val232=)
c.22_23delinsGT (p.Val8=)
5g.112815534_112815540delCA16611758APCc.874_880del (p.Ser293ValfsTer10)
n.930_936del
c.*880_*886del (n.*880_*886del)
c.820_826del (p.Ser275ValfsTer10)
c.*196_*202del (n.*196_*202del)
c.904_910del (p.Ser303ValfsTer10)
c.799_805del (p.Ser268ValfsTer10)
c.790_796del (p.Ser265ValfsTer10)
c.697_703del (p.Ser234ValfsTer10)
c.25_31del (p.Ser10ValfsTer10)
 ClinVar dbSNP
5g.112815532T>ACA16023226APCc.872T>A (p.Val291Asp)
n.928T>A
c.*878T>A (n.*878T>A)
c.818T>A (p.Val273Asp)
c.*194T>A (n.*194T>A)
c.902T>A (p.Val301Asp)
c.797T>A (p.Val266Asp)
c.788T>A (p.Val263Asp)
c.695T>A (p.Val232Asp)
c.23T>A (p.Val8Asp)
 dbSNP
5g.112815532T>CCA16023227APCc.872T>C (p.Val291Ala)
n.928T>C
c.*878T>C (n.*878T>C)
c.818T>C (p.Val273Ala)
c.*194T>C (n.*194T>C)
c.902T>C (p.Val301Ala)
c.797T>C (p.Val266Ala)
c.788T>C (p.Val263Ala)
c.695T>C (p.Val232Ala)
c.23T>C (p.Val8Ala)
 dbSNP
5g.112815532T>GCA16023228APCc.872T>G (p.Val291Gly)
n.928T>G
c.*878T>G (n.*878T>G)
c.818T>G (p.Val273Gly)
c.*194T>G (n.*194T>G)
c.902T>G (p.Val301Gly)
c.797T>G (p.Val266Gly)
c.788T>G (p.Val263Gly)
c.695T>G (p.Val232Gly)
c.23T>G (p.Val8Gly)
 ClinVar dbSNP
5g.112815532T=CA1573484712APCc.872T= (p.Val291=)
n.928T=
c.*878T= (n.*878T=)
c.818T= (p.Val273=)
c.*194T= (n.*194T=)
c.902T= (p.Val301=)
c.797T= (p.Val266=)
c.788T= (p.Val263=)
c.695T= (p.Val232=)
c.23T= (p.Val8=)
5g.112815535dupCA445755690APCc.875dup (p.Leu292PhefsTer4)
n.931dup
c.*881dup (n.*881dup)
c.821dup (p.Leu274PhefsTer4)
c.*197dup (n.*197dup)
c.905dup (p.Leu302PhefsTer4)
c.800dup (p.Leu267PhefsTer4)
c.791dup (p.Leu264PhefsTer4)
c.698dup (p.Leu233PhefsTer4)
c.26dup (p.Leu9PhefsTer4)
 ClinVar dbSNP COSMIC
5g.112815535delCA916080339APCc.875del (p.Leu292Ter)
n.931del
c.*881del (n.*881del)
c.821del (p.Leu274Ter)
c.*197del (n.*197del)
c.905del (p.Leu302Ter)
c.800del (p.Leu267Ter)
c.791del (p.Leu264Ter)
c.698del (p.Leu233Ter)
c.26del (p.Leu9Ter)
 ClinVar dbSNP
5g.112815534_112815535delCA2697546395APCc.874_875del (p.Leu292GlufsTer3)
n.930_931del
c.*880_*881del (n.*880_*881del)
c.820_821del (p.Leu274GlufsTer3)
c.*196_*197del (n.*196_*197del)
c.904_905del (p.Leu302GlufsTer3)
c.799_800del (p.Leu267GlufsTer3)
c.790_791del (p.Leu264GlufsTer3)
c.697_698del (p.Leu233GlufsTer3)
c.25_26del (p.Leu9GlufsTer3)
 ClinVar
5g.112815533T>ACA445755692APCc.873T>A (p.Val291=)
n.929T>A
c.*879T>A (n.*879T>A)
c.819T>A (p.Val273=)
c.*195T>A (n.*195T>A)
c.903T>A (p.Val301=)
c.798T>A (p.Val266=)
c.789T>A (p.Val263=)
c.696T>A (p.Val232=)
c.24T>A (p.Val8=)
 dbSNP
5g.112815533T>CCA445755691APCc.873T>C (p.Val291=)
n.929T>C
c.*879T>C (n.*879T>C)
c.819T>C (p.Val273=)
c.*195T>C (n.*195T>C)
c.903T>C (p.Val301=)
c.798T>C (p.Val266=)
c.789T>C (p.Val263=)
c.696T>C (p.Val232=)
c.24T>C (p.Val8=)
 dbSNP
5g.112815533T>GCA445755693APCc.873T>G (p.Val291=)
n.929T>G
c.*879T>G (n.*879T>G)
c.819T>G (p.Val273=)
c.*195T>G (n.*195T>G)
c.903T>G (p.Val301=)
c.798T>G (p.Val266=)
c.789T>G (p.Val263=)
c.696T>G (p.Val232=)
c.24T>G (p.Val8=)
 dbSNP
5g.112815534T>ACA16023229APCc.874T>A (p.Leu292Met)
n.930T>A
c.*880T>A (n.*880T>A)
c.820T>A (p.Leu274Met)
c.*196T>A (n.*196T>A)
c.904T>A (p.Leu302Met)
c.799T>A (p.Leu267Met)
c.790T>A (p.Leu264Met)
c.697T>A (p.Leu233Met)
c.25T>A (p.Leu9Met)
 dbSNP
5g.112815534T>CCA445755694APCc.874T>C (p.Leu292=)
n.930T>C
c.*880T>C (n.*880T>C)
c.820T>C (p.Leu274=)
c.*196T>C (n.*196T>C)
c.904T>C (p.Leu302=)
c.799T>C (p.Leu267=)
c.790T>C (p.Leu264=)
c.697T>C (p.Leu233=)
c.25T>C (p.Leu9=)
5g.112815534T>GCA16023230APCc.874T>G (p.Leu292Val)
n.930T>G
c.*880T>G (n.*880T>G)
c.820T>G (p.Leu274Val)
c.*196T>G (n.*196T>G)
c.904T>G (p.Leu302Val)
c.799T>G (p.Leu267Val)
c.790T>G (p.Leu264Val)
c.697T>G (p.Leu233Val)
c.25T>G (p.Leu9Val)
5g.112815535T>ACA10578301APCc.875T>A (p.Leu292Ter)
n.931T>A
c.*881T>A (n.*881T>A)
c.821T>A (p.Leu274Ter)
c.*197T>A (n.*197T>A)
c.905T>A (p.Leu302Ter)
c.800T>A (p.Leu267Ter)
c.791T>A (p.Leu264Ter)
c.698T>A (p.Leu233Ter)
c.26T>A (p.Leu9Ter)
 ClinVar dbSNP
5g.112815535T>CCA16023231APCc.875T>C (p.Leu292Ser)
n.931T>C
c.*881T>C (n.*881T>C)
c.821T>C (p.Leu274Ser)
c.*197T>C (n.*197T>C)
c.905T>C (p.Leu302Ser)
c.800T>C (p.Leu267Ser)
c.791T>C (p.Leu264Ser)
c.698T>C (p.Leu233Ser)
c.26T>C (p.Leu9Ser)
5g.112815535T>GCA16023232APCc.875T>G (p.Leu292Trp)
n.931T>G
c.*881T>G (n.*881T>G)
c.821T>G (p.Leu274Trp)
c.*197T>G (n.*197T>G)
c.905T>G (p.Leu302Trp)
c.800T>G (p.Leu267Trp)
c.791T>G (p.Leu264Trp)
c.698T>G (p.Leu233Trp)
c.26T>G (p.Leu9Trp)
 ClinVar
5g.112815535T=CA1573484720APCc.875T= (p.Leu292=)
n.931T=
c.*881T= (n.*881T=)
c.821T= (p.Leu274=)
c.*197T= (n.*197T=)
c.905T= (p.Leu302=)
c.800T= (p.Leu267=)
c.791T= (p.Leu264=)
c.698T= (p.Leu233=)
c.26T= (p.Leu9=)
5g.112815536G>ACA445755695APCc.876G>A (p.Leu292=)
n.932G>A
c.*882G>A (n.*882G>A)
c.822G>A (p.Leu274=)
c.*198G>A (n.*198G>A)
c.906G>A (p.Leu302=)
c.801G>A (p.Leu267=)
c.792G>A (p.Leu264=)
c.699G>A (p.Leu233=)
c.27G>A (p.Leu9=)
 dbSNP
5g.112815536G>CCA16023233APCc.876G>C (p.Leu292Phe)
n.932G>C
c.*882G>C (n.*882G>C)
c.822G>C (p.Leu274Phe)
c.*198G>C (n.*198G>C)
c.906G>C (p.Leu302Phe)
c.801G>C (p.Leu267Phe)
c.792G>C (p.Leu264Phe)
c.699G>C (p.Leu233Phe)
c.27G>C (p.Leu9Phe)
 ClinVar dbSNP gnomAD v4
5g.112815536G=CA1573484730APCc.876G= (p.Leu292=)
n.932G=
c.*882G= (n.*882G=)
c.822G= (p.Leu274=)
c.*198G= (n.*198G=)
c.906G= (p.Leu302=)
c.801G= (p.Leu267=)
c.792G= (p.Leu264=)
c.699G= (p.Leu233=)
c.27G= (p.Leu9=)
5g.112815536G>TCA051023APCc.876G>T (p.Leu292Phe)
n.932G>T
c.*882G>T (n.*882G>T)
c.822G>T (p.Leu274Phe)
c.*198G>T (n.*198G>T)
c.906G>T (p.Leu302Phe)
c.801G>T (p.Leu267Phe)
c.792G>T (p.Leu264Phe)
c.699G>T (p.Leu233Phe)
c.27G>T (p.Leu9Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112815537delCA658760480APCc.877del (p.Ser293ValfsTer12)
n.933del
c.*883del (n.*883del)
c.823del (p.Ser275ValfsTer12)
c.*199del (n.*199del)
c.907del (p.Ser303ValfsTer12)
c.802del (p.Ser268ValfsTer12)
c.793del (p.Ser265ValfsTer12)
c.700del (p.Ser234ValfsTer12)
c.28del (p.Ser10ValfsTer12)
5g.112815537A>CCA16023234APCc.877A>C (p.Ser293Arg)
n.933A>C
c.*883A>C (n.*883A>C)
c.823A>C (p.Ser275Arg)
c.*199A>C (n.*199A>C)
c.907A>C (p.Ser303Arg)
c.802A>C (p.Ser268Arg)
c.793A>C (p.Ser265Arg)
c.700A>C (p.Ser234Arg)
c.28A>C (p.Ser10Arg)
5g.112815537A>GCA16023235APCc.877A>G (p.Ser293Gly)
n.933A>G
c.*883A>G (n.*883A>G)
c.823A>G (p.Ser275Gly)
c.*199A>G (n.*199A>G)
c.907A>G (p.Ser303Gly)
c.802A>G (p.Ser268Gly)
c.793A>G (p.Ser265Gly)
c.700A>G (p.Ser234Gly)
c.28A>G (p.Ser10Gly)
 dbSNP
5g.112815537A>TCA16023236APCc.877A>T (p.Ser293Cys)
n.933A>T
c.*883A>T (n.*883A>T)
c.823A>T (p.Ser275Cys)
c.*199A>T (n.*199A>T)
c.907A>T (p.Ser303Cys)
c.802A>T (p.Ser268Cys)
c.793A>T (p.Ser265Cys)
c.700A>T (p.Ser234Cys)
c.28A>T (p.Ser10Cys)
 dbSNP
5g.112815537_112815538delinsAGCA1573484735APCc.877_878delinsAG (p.Ser293=)
n.933_934delinsAG
c.*883_*884delinsAG (n.*883_*884delinsAG)
c.823_824delinsAG (p.Ser275=)
c.*199_*200delinsAG (n.*199_*200delinsAG)
c.907_908delinsAG (p.Ser303=)
c.802_803delinsAG (p.Ser268=)
c.793_794delinsAG (p.Ser265=)
c.700_701delinsAG (p.Ser234=)
c.28_29delinsAG (p.Ser10=)
5g.112815538delCA915943468APCc.878del (p.Ser293IlefsTer12)
n.934del
c.*884del (n.*884del)
c.824del (p.Ser275IlefsTer12)
c.*200del (n.*200del)
c.908del (p.Ser303IlefsTer12)
c.803del (p.Ser268IlefsTer12)
c.794del (p.Ser265IlefsTer12)
c.701del (p.Ser234IlefsTer12)
c.29del (p.Ser10IlefsTer12)
 ClinVar dbSNP
5g.112815538G>ACA16023237APCc.878G>A (p.Ser293Asn)
n.934G>A
c.*884G>A (n.*884G>A)
c.824G>A (p.Ser275Asn)
c.*200G>A (n.*200G>A)
c.908G>A (p.Ser303Asn)
c.803G>A (p.Ser268Asn)
c.794G>A (p.Ser265Asn)
c.701G>A (p.Ser234Asn)
c.29G>A (p.Ser10Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112815538G>CCA16023238APCc.878G>C (p.Ser293Thr)
n.934G>C
c.*884G>C (n.*884G>C)
c.824G>C (p.Ser275Thr)
c.*200G>C (n.*200G>C)
c.908G>C (p.Ser303Thr)
c.803G>C (p.Ser268Thr)
c.794G>C (p.Ser265Thr)
c.701G>C (p.Ser234Thr)
c.29G>C (p.Ser10Thr)
 ClinVar dbSNP gnomAD v4
5g.112815538G=CA1573484743APCc.878G= (p.Ser293=)
n.934G=
c.*884G= (n.*884G=)
c.824G= (p.Ser275=)
c.*200G= (n.*200G=)
c.908G= (p.Ser303=)
c.803G= (p.Ser268=)
c.794G= (p.Ser265=)
c.701G= (p.Ser234=)
c.29G= (p.Ser10=)
5g.112815538G>TCA16023239APCc.878G>T (p.Ser293Ile)
n.934G>T
c.*884G>T (n.*884G>T)
c.824G>T (p.Ser275Ile)
c.*200G>T (n.*200G>T)
c.908G>T (p.Ser303Ile)
c.803G>T (p.Ser268Ile)
c.794G>T (p.Ser265Ile)
c.701G>T (p.Ser234Ile)
c.29G>T (p.Ser10Ile)
 ClinVar dbSNP
5g.112815539T>ACA16023240APCc.879T>A (p.Ser293Arg)
n.935T>A
c.*885T>A (n.*885T>A)
c.825T>A (p.Ser275Arg)
c.*201T>A (n.*201T>A)
c.909T>A (p.Ser303Arg)
c.804T>A (p.Ser268Arg)
c.795T>A (p.Ser265Arg)
c.702T>A (p.Ser234Arg)
c.30T>A (p.Ser10Arg)
 dbSNP
5g.112815539T>CCA445755696APCc.879T>C (p.Ser293=)
n.935T>C
c.*885T>C (n.*885T>C)
c.825T>C (p.Ser275=)
c.*201T>C (n.*201T>C)
c.909T>C (p.Ser303=)
c.804T>C (p.Ser268=)
c.795T>C (p.Ser265=)
c.702T>C (p.Ser234=)
c.30T>C (p.Ser10=)
 ClinVar
5g.112815539T>GCA16023241APCc.879T>G (p.Ser293Arg)
n.935T>G
c.*885T>G (n.*885T>G)
c.825T>G (p.Ser275Arg)
c.*201T>G (n.*201T>G)
c.909T>G (p.Ser303Arg)
c.804T>G (p.Ser268Arg)
c.795T>G (p.Ser265Arg)
c.702T>G (p.Ser234Arg)
c.30T>G (p.Ser10Arg)
 ClinVar
5g.112815540delCA658760481APCc.880del (p.Ser294LeufsTer11)
n.936del
c.*886del (n.*886del)
c.826del (p.Ser276LeufsTer11)
c.*202del (n.*202del)
c.910del (p.Ser304LeufsTer11)
c.805del (p.Ser269LeufsTer11)
c.796del (p.Ser266LeufsTer11)
c.703del (p.Ser235LeufsTer11)
c.31del (p.Ser11LeufsTer11)
5g.112815540T>ACA16023242APCc.880T>A (p.Ser294Thr)
n.936T>A
c.*886T>A (n.*886T>A)
c.826T>A (p.Ser276Thr)
c.*202T>A (n.*202T>A)
c.910T>A (p.Ser304Thr)
c.805T>A (p.Ser269Thr)
c.796T>A (p.Ser266Thr)
c.703T>A (p.Ser235Thr)
c.31T>A (p.Ser11Thr)
5g.112815540T>CCA16023243APCc.880T>C (p.Ser294Pro)
n.936T>C
c.*886T>C (n.*886T>C)
c.826T>C (p.Ser276Pro)
c.*202T>C (n.*202T>C)
c.910T>C (p.Ser304Pro)
c.805T>C (p.Ser269Pro)
c.796T>C (p.Ser266Pro)
c.703T>C (p.Ser235Pro)
c.31T>C (p.Ser11Pro)
5g.112815540T>GCA16023244APCc.880T>G (p.Ser294Ala)
n.936T>G
c.*886T>G (n.*886T>G)
c.826T>G (p.Ser276Ala)
c.*202T>G (n.*202T>G)
c.910T>G (p.Ser304Ala)
c.805T>G (p.Ser269Ala)
c.796T>G (p.Ser266Ala)
c.703T>G (p.Ser235Ala)
c.31T>G (p.Ser11Ala)
 ClinVar dbSNP
5g.112815540T=CA1573484753APCc.880T= (p.Ser294=)
n.936T=
c.*886T= (n.*886T=)
c.826T= (p.Ser276=)
c.*202T= (n.*202T=)
c.910T= (p.Ser304=)
c.805T= (p.Ser269=)
c.796T= (p.Ser266=)
c.703T= (p.Ser235=)
c.31T= (p.Ser11=)
5g.112815540_112815541delinsTCCA1573484748APCc.880_881delinsTC (p.Ser294=)
n.936_937delinsTC
c.*886_*887delinsTC (n.*886_*887delinsTC)
c.826_827delinsTC (p.Ser276=)
c.*202_*203delinsTC (n.*202_*203delinsTC)
c.910_911delinsTC (p.Ser304=)
c.805_806delinsTC (p.Ser269=)
c.796_797delinsTC (p.Ser266=)
c.703_704delinsTC (p.Ser235=)
c.31_32delinsTC (p.Ser11=)
5g.112815541delCA915943469APCc.881del (p.Ser294LeufsTer11)
n.937del
c.*887del (n.*887del)
c.827del (p.Ser276LeufsTer11)
c.*203del (n.*203del)
c.911del (p.Ser304LeufsTer11)
c.806del (p.Ser269LeufsTer11)
c.797del (p.Ser266LeufsTer11)
c.704del (p.Ser235LeufsTer11)
c.32del (p.Ser11LeufsTer11)
 ClinVar dbSNP
5g.112815541C>ACA16023245APCc.881C>A (p.Ser294Tyr)
n.937C>A
c.*887C>A (n.*887C>A)
c.827C>A (p.Ser276Tyr)
c.*203C>A (n.*203C>A)
c.911C>A (p.Ser304Tyr)
c.806C>A (p.Ser269Tyr)
c.797C>A (p.Ser266Tyr)
c.704C>A (p.Ser235Tyr)
c.32C>A (p.Ser11Tyr)
 dbSNP
5g.112815541C>GCA16023246APCc.881C>G (p.Ser294Cys)
n.937C>G
c.*887C>G (n.*887C>G)
c.827C>G (p.Ser276Cys)
c.*203C>G (n.*203C>G)
c.911C>G (p.Ser304Cys)
c.806C>G (p.Ser269Cys)
c.797C>G (p.Ser266Cys)
c.704C>G (p.Ser235Cys)
c.32C>G (p.Ser11Cys)
 ClinVar dbSNP
5g.112815541C>TCA16023247APCc.881C>T (p.Ser294Phe)
n.937C>T
c.*887C>T (n.*887C>T)
c.827C>T (p.Ser276Phe)
c.*203C>T (n.*203C>T)
c.911C>T (p.Ser304Phe)
c.806C>T (p.Ser269Phe)
c.797C>T (p.Ser266Phe)
c.704C>T (p.Ser235Phe)
c.32C>T (p.Ser11Phe)
 dbSNP COSMIC
5g.112815542T>ACA445755697APCc.882T>A (p.Ser294=)
n.938T>A
c.*888T>A (n.*888T>A)
c.828T>A (p.Ser276=)
c.*204T>A (n.*204T>A)
c.912T>A (p.Ser304=)
c.807T>A (p.Ser269=)
c.798T>A (p.Ser266=)
c.705T>A (p.Ser235=)
c.33T>A (p.Ser11=)
 dbSNP
5g.112815542T>CCA445755698APCc.882T>C (p.Ser294=)
n.938T>C
c.*888T>C (n.*888T>C)
c.828T>C (p.Ser276=)
c.*204T>C (n.*204T>C)
c.912T>C (p.Ser304=)
c.807T>C (p.Ser269=)
c.798T>C (p.Ser266=)
c.705T>C (p.Ser235=)
c.33T>C (p.Ser11=)
 ClinVar dbSNP
5g.112815542T>GCA445755699APCc.882T>G (p.Ser294=)
n.938T>G
c.*888T>G (n.*888T>G)
c.828T>G (p.Ser276=)
c.*204T>G (n.*204T>G)
c.912T>G (p.Ser304=)
c.807T>G (p.Ser269=)
c.798T>G (p.Ser266=)
c.705T>G (p.Ser235=)
c.33T>G (p.Ser11=)
5g.112815543A=CA1573484774APCc.883A= (p.Ser295=)
n.939A=
c.*889A= (n.*889A=)
c.829A= (p.Ser277=)
c.*205A= (n.*205A=)
c.913A= (p.Ser305=)
c.808A= (p.Ser270=)
c.799A= (p.Ser267=)
c.706A= (p.Ser236=)
c.34A= (p.Ser12=)
5g.112815543A>CCA16023248APCc.883A>C (p.Ser295Arg)
n.939A>C
c.*889A>C (n.*889A>C)
c.829A>C (p.Ser277Arg)
c.*205A>C (n.*205A>C)
c.913A>C (p.Ser305Arg)
c.808A>C (p.Ser270Arg)
c.799A>C (p.Ser267Arg)
c.706A>C (p.Ser236Arg)
c.34A>C (p.Ser12Arg)
5g.112815543A>GCA015623APCc.883A>G (p.Ser295Gly)
n.939A>G
c.*889A>G (n.*889A>G)
c.829A>G (p.Ser277Gly)
c.*205A>G (n.*205A>G)
c.913A>G (p.Ser305Gly)
c.808A>G (p.Ser270Gly)
c.799A>G (p.Ser267Gly)
c.706A>G (p.Ser236Gly)
c.34A>G (p.Ser12Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815543A>TCA16023249APCc.883A>T (p.Ser295Cys)
n.939A>T
c.*889A>T (n.*889A>T)
c.829A>T (p.Ser277Cys)
c.*205A>T (n.*205A>T)
c.913A>T (p.Ser305Cys)
c.808A>T (p.Ser270Cys)
c.799A>T (p.Ser267Cys)
c.706A>T (p.Ser236Cys)
c.34A>T (p.Ser12Cys)
 dbSNP
5g.112815543delinsTACCA2831038950APCc.883delinsTAC (p.Ser295TyrfsTer11)
n.939delinsTAC
c.*889delinsTAC (n.*889delinsTAC)
c.829delinsTAC (p.Ser277TyrfsTer11)
c.*205delinsTAC (n.*205delinsTAC)
c.913delinsTAC (p.Ser305TyrfsTer11)
c.808delinsTAC (p.Ser270TyrfsTer11)
c.799delinsTAC (p.Ser267TyrfsTer11)
c.706delinsTAC (p.Ser236TyrfsTer11)
c.34delinsTAC (p.Ser12TyrfsTer11)
5g.112815544G>ACA16023250APCc.884G>A (p.Ser295Asn)
n.940G>A
c.*890G>A (n.*890G>A)
c.830G>A (p.Ser277Asn)
c.*206G>A (n.*206G>A)
c.914G>A (p.Ser305Asn)
c.809G>A (p.Ser270Asn)
c.800G>A (p.Ser267Asn)
c.707G>A (p.Ser236Asn)
c.35G>A (p.Ser12Asn)
 ClinVar
5g.112815544G>CCA16023251APCc.884G>C (p.Ser295Thr)
n.940G>C
c.*890G>C (n.*890G>C)
c.830G>C (p.Ser277Thr)
c.*206G>C (n.*206G>C)
c.914G>C (p.Ser305Thr)
c.809G>C (p.Ser270Thr)
c.800G>C (p.Ser267Thr)
c.707G>C (p.Ser236Thr)
c.35G>C (p.Ser12Thr)
 dbSNP
5g.112815544G=CA1573484781APCc.884G= (p.Ser295=)
n.940G=
c.*890G= (n.*890G=)
c.830G= (p.Ser277=)
c.*206G= (n.*206G=)
c.914G= (p.Ser305=)
c.809G= (p.Ser270=)
c.800G= (p.Ser267=)
c.707G= (p.Ser236=)
c.35G= (p.Ser12=)
5g.112815544G>TCA051048APCc.884G>T (p.Ser295Ile)
n.940G>T
c.*890G>T (n.*890G>T)
c.830G>T (p.Ser277Ile)
c.*206G>T (n.*206G>T)
c.914G>T (p.Ser305Ile)
c.809G>T (p.Ser270Ile)
c.800G>T (p.Ser267Ile)
c.707G>T (p.Ser236Ile)
c.35G>T (p.Ser12Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112815545T>ACA16023252APCc.885T>A (p.Ser295Arg)
n.941T>A
c.*891T>A (n.*891T>A)
c.831T>A (p.Ser277Arg)
c.*207T>A (n.*207T>A)
c.915T>A (p.Ser305Arg)
c.810T>A (p.Ser270Arg)
c.801T>A (p.Ser267Arg)
c.708T>A (p.Ser236Arg)
c.36T>A (p.Ser12Arg)
 dbSNP
5g.112815545T>CCA445755700APCc.885T>C (p.Ser295=)
n.941T>C
c.*891T>C (n.*891T>C)
c.831T>C (p.Ser277=)
c.*207T>C (n.*207T>C)
c.915T>C (p.Ser305=)
c.810T>C (p.Ser270=)
c.801T>C (p.Ser267=)
c.708T>C (p.Ser236=)
c.36T>C (p.Ser12=)
 ClinVar dbSNP
5g.112815545T>GCA16023253APCc.885T>G (p.Ser295Arg)
n.941T>G
c.*891T>G (n.*891T>G)
c.831T>G (p.Ser277Arg)
c.*207T>G (n.*207T>G)
c.915T>G (p.Ser305Arg)
c.810T>G (p.Ser270Arg)
c.801T>G (p.Ser267Arg)
c.708T>G (p.Ser236Arg)
c.36T>G (p.Ser12Arg)
 ClinVar dbSNP
5g.112815545T=CA1573484792APCc.885T= (p.Ser295=)
n.941T=
c.*891T= (n.*891T=)
c.831T= (p.Ser277=)
c.*207T= (n.*207T=)
c.915T= (p.Ser305=)
c.810T= (p.Ser270=)
c.801T= (p.Ser267=)
c.708T= (p.Ser236=)
c.36T= (p.Ser12=)
5g.112815546delCA658760482APCc.886del (p.Ser296AlafsTer9)
n.942del
c.*892del (n.*892del)
c.832del (p.Ser278AlafsTer9)
c.*208del (n.*208del)
c.916del (p.Ser306AlafsTer9)
c.811del (p.Ser271AlafsTer9)
c.802del (p.Ser268AlafsTer9)
c.709del (p.Ser237AlafsTer9)
c.37del (p.Ser13AlafsTer9)
5g.112815546A=CA1573484801APCc.886A= (p.Ser296=)
n.942A=
c.*892A= (n.*892A=)
c.832A= (p.Ser278=)
c.*208A= (n.*208A=)
c.916A= (p.Ser306=)
c.811A= (p.Ser271=)
c.802A= (p.Ser268=)
c.709A= (p.Ser237=)
c.37A= (p.Ser13=)
5g.112815546A>CCA16023254APCc.886A>C (p.Ser296Arg)
n.942A>C
c.*892A>C (n.*892A>C)
c.832A>C (p.Ser278Arg)
c.*208A>C (n.*208A>C)
c.916A>C (p.Ser306Arg)
c.811A>C (p.Ser271Arg)
c.802A>C (p.Ser268Arg)
c.709A>C (p.Ser237Arg)
c.37A>C (p.Ser13Arg)
 gnomAD v4
5g.112815546A>GCA16023255APCc.886A>G (p.Ser296Gly)
n.942A>G
c.*892A>G (n.*892A>G)
c.832A>G (p.Ser278Gly)
c.*208A>G (n.*208A>G)
c.916A>G (p.Ser306Gly)
c.811A>G (p.Ser271Gly)
c.802A>G (p.Ser268Gly)
c.709A>G (p.Ser237Gly)
c.37A>G (p.Ser13Gly)
 ClinVar dbSNP
5g.112815546A>TCA16023256APCc.886A>T (p.Ser296Cys)
n.942A>T
c.*892A>T (n.*892A>T)
c.832A>T (p.Ser278Cys)
c.*208A>T (n.*208A>T)
c.916A>T (p.Ser306Cys)
c.811A>T (p.Ser271Cys)
c.802A>T (p.Ser268Cys)
c.709A>T (p.Ser237Cys)
c.37A>T (p.Ser13Cys)
 dbSNP
5g.112815547G>ACA16023257APCc.887G>A (p.Ser296Asn)
n.943G>A
c.*893G>A (n.*893G>A)
c.833G>A (p.Ser278Asn)
c.*209G>A (n.*209G>A)
c.917G>A (p.Ser306Asn)
c.812G>A (p.Ser271Asn)
c.803G>A (p.Ser268Asn)
c.710G>A (p.Ser237Asn)
c.38G>A (p.Ser13Asn)
 ClinVar dbSNP gnomAD v4
5g.112815547G>CCA16023258APCc.887G>C (p.Ser296Thr)
n.943G>C
c.*893G>C (n.*893G>C)
c.833G>C (p.Ser278Thr)
c.*209G>C (n.*209G>C)
c.917G>C (p.Ser306Thr)
c.812G>C (p.Ser271Thr)
c.803G>C (p.Ser268Thr)
c.710G>C (p.Ser237Thr)
c.38G>C (p.Ser13Thr)
 ClinVar dbSNP gnomAD v4
5g.112815547G=CA1573484807APCc.887G= (p.Ser296=)
n.943G=
c.*893G= (n.*893G=)
c.833G= (p.Ser278=)
c.*209G= (n.*209G=)
c.917G= (p.Ser306=)
c.812G= (p.Ser271=)
c.803G= (p.Ser268=)
c.710G= (p.Ser237=)
c.38G= (p.Ser13=)
5g.112815547G>TCA16023259APCc.887G>T (p.Ser296Ile)
n.943G>T
c.*893G>T (n.*893G>T)
c.833G>T (p.Ser278Ile)
c.*209G>T (n.*209G>T)
c.917G>T (p.Ser306Ile)
c.812G>T (p.Ser271Ile)
c.803G>T (p.Ser268Ile)
c.710G>T (p.Ser237Ile)
c.38G>T (p.Ser13Ile)
 gnomAD v4
5g.112815547_112815551delinsGCACACA1573484805APCc.887_891delinsGCACA (p.Ser296=)
n.943_947delinsGCACA
c.*893_*897delinsGCACA (n.*893_*897delinsGCACA)
c.833_837delinsGCACA (p.Ser278=)
c.*209_*213delinsGCACA (n.*209_*213delinsGCACA)
c.917_921delinsGCACA (p.Ser306=)
c.812_816delinsGCACA (p.Ser271=)
c.803_807delinsGCACA (p.Ser268=)
c.710_714delinsGCACA (p.Ser237=)
c.38_42delinsGCACA (p.Ser13=)
5g.112815548C>ACA16023260APCc.888C>A (p.Ser296Arg)
n.944C>A
c.*894C>A (n.*894C>A)
c.834C>A (p.Ser278Arg)
c.*210C>A (n.*210C>A)
c.918C>A (p.Ser306Arg)
c.813C>A (p.Ser271Arg)
c.804C>A (p.Ser268Arg)
c.711C>A (p.Ser237Arg)
c.39C>A (p.Ser13Arg)
5g.112815548C>GCA16023261APCc.888C>G (p.Ser296Arg)
n.944C>G
c.*894C>G (n.*894C>G)
c.834C>G (p.Ser278Arg)
c.*210C>G (n.*210C>G)
c.918C>G (p.Ser306Arg)
c.813C>G (p.Ser271Arg)
c.804C>G (p.Ser268Arg)
c.711C>G (p.Ser237Arg)
c.39C>G (p.Ser13Arg)
 dbSNP
5g.112815548C>TCA445755701APCc.888C>T (p.Ser296=)
n.944C>T
c.*894C>T (n.*894C>T)
c.834C>T (p.Ser278=)
c.*210C>T (n.*210C>T)
c.918C>T (p.Ser306=)
c.813C>T (p.Ser271=)
c.804C>T (p.Ser268=)
c.711C>T (p.Ser237=)
c.39C>T (p.Ser13=)
 dbSNP
5g.112815553_112815554dupCA2709743358APCc.893_894dup (p.Ser299ThrfsTer7)
n.949_950dup
c.*899_*900dup (n.*899_*900dup)
c.839_840dup (p.Ser281ThrfsTer7)
c.*215_*216dup (n.*215_*216dup)
c.923_924dup (p.Ser309ThrfsTer7)
c.818_819dup (p.Ser274ThrfsTer7)
c.809_810dup (p.Ser271ThrfsTer7)
c.716_717dup (p.Ser240ThrfsTer7)
c.44_45dup (p.Ser16ThrfsTer7)
 dbSNP
5g.112815553_112815554delCA645372416APCc.893_894del (p.His298LeufsTer28)
n.949_950del
c.*899_*900del (n.*899_*900del)
c.839_840del (p.His280LeufsTer28)
c.*215_*216del (n.*215_*216del)
c.923_924del (p.His308LeufsTer28)
c.818_819del (p.His273LeufsTer28)
c.809_810del (p.His270LeufsTer28)
c.716_717del (p.His239LeufsTer28)
c.923_924del (p.His308LeufsTer19)
c.893_894del (p.His298LeufsTer19)
c.818_819del (p.His273LeufsTer19)
c.716_717del (p.His239LeufsTer19)
c.44_45del (p.His15LeufsTer28)
 ClinVar dbSNP COSMIC
5g.112815551_112815554delCA645369319APCc.891_894del (p.His298LeufsTer6)
n.947_950del
c.*897_*900del (n.*897_*900del)
c.837_840del (p.His280LeufsTer6)
c.*213_*216del (n.*213_*216del)
c.921_924del (p.His308LeufsTer6)
c.816_819del (p.His273LeufsTer6)
c.807_810del (p.His270LeufsTer6)
c.714_717del (p.His239LeufsTer6)
c.42_45del (p.His15LeufsTer6)
 ClinVar dbSNP
5g.112815549A=CA1573484820APCc.889A= (p.Thr297=)
n.945A=
c.*895A= (n.*895A=)
c.835A= (p.Thr279=)
c.*211A= (n.*211A=)
c.919A= (p.Thr307=)
c.814A= (p.Thr272=)
c.805A= (p.Thr269=)
c.712A= (p.Thr238=)
c.40A= (p.Thr14=)
5g.112815549A>CCA16023262APCc.889A>C (p.Thr297Pro)
n.945A>C
c.*895A>C (n.*895A>C)
c.835A>C (p.Thr279Pro)
c.*211A>C (n.*211A>C)
c.919A>C (p.Thr307Pro)
c.814A>C (p.Thr272Pro)
c.805A>C (p.Thr269Pro)
c.712A>C (p.Thr238Pro)
c.40A>C (p.Thr14Pro)
 dbSNP
5g.112815549A>GCA10578302APCc.889A>G (p.Thr297Ala)
n.945A>G
c.*895A>G (n.*895A>G)
c.835A>G (p.Thr279Ala)
c.*211A>G (n.*211A>G)
c.919A>G (p.Thr307Ala)
c.814A>G (p.Thr272Ala)
c.805A>G (p.Thr269Ala)
c.712A>G (p.Thr238Ala)
c.40A>G (p.Thr14Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112815549A>TCA16023263APCc.889A>T (p.Thr297Ser)
n.945A>T
c.*895A>T (n.*895A>T)
c.835A>T (p.Thr279Ser)
c.*211A>T (n.*211A>T)
c.919A>T (p.Thr307Ser)
c.814A>T (p.Thr272Ser)
c.805A>T (p.Thr269Ser)
c.712A>T (p.Thr238Ser)
c.40A>T (p.Thr14Ser)
 dbSNP
5g.112815549dupCA2582341278APCc.889dup (p.Thr297AsnfsTer30)
n.945dup
c.*895dup (n.*895dup)
c.835dup (p.Thr279AsnfsTer30)
c.*211dup (n.*211dup)
c.919dup (p.Thr307AsnfsTer30)
c.814dup (p.Thr272AsnfsTer30)
c.805dup (p.Thr269AsnfsTer30)
c.712dup (p.Thr238AsnfsTer30)
c.919dup (p.Thr307AsnfsTer21)
c.889dup (p.Thr297AsnfsTer21)
c.814dup (p.Thr272AsnfsTer21)
c.712dup (p.Thr238AsnfsTer21)
c.40dup (p.Thr14AsnfsTer30)
 ClinVar
5g.112815550C>ACA16023264APCc.890C>A (p.Thr297Lys)
n.946C>A
c.*896C>A (n.*896C>A)
c.836C>A (p.Thr279Lys)
c.*212C>A (n.*212C>A)
c.920C>A (p.Thr307Lys)
c.815C>A (p.Thr272Lys)
c.806C>A (p.Thr269Lys)
c.713C>A (p.Thr238Lys)
c.41C>A (p.Thr14Lys)
5g.112815550C=CA1573484833APCc.890C= (p.Thr297=)
n.946C=
c.*896C= (n.*896C=)
c.836C= (p.Thr279=)
c.*212C= (n.*212C=)
c.920C= (p.Thr307=)
c.815C= (p.Thr272=)
c.806C= (p.Thr269=)
c.713C= (p.Thr238=)
c.41C= (p.Thr14=)
5g.112815550C>GCA16023265APCc.890C>G (p.Thr297Arg)
n.946C>G
c.*896C>G (n.*896C>G)
c.836C>G (p.Thr279Arg)
c.*212C>G (n.*212C>G)
c.920C>G (p.Thr307Arg)
c.815C>G (p.Thr272Arg)
c.806C>G (p.Thr269Arg)
c.713C>G (p.Thr238Arg)
c.41C>G (p.Thr14Arg)
 ClinVar dbSNP
5g.112815550C>TCA16023266APCc.890C>T (p.Thr297Ile)
n.946C>T
c.*896C>T (n.*896C>T)
c.836C>T (p.Thr279Ile)
c.*212C>T (n.*212C>T)
c.920C>T (p.Thr307Ile)
c.815C>T (p.Thr272Ile)
c.806C>T (p.Thr269Ile)
c.713C>T (p.Thr238Ile)
c.41C>T (p.Thr14Ile)
 ClinVar dbSNP gnomAD v4
5g.112815551A>CCA445755702APCc.891A>C (p.Thr297=)
n.947A>C
c.*897A>C (n.*897A>C)
c.837A>C (p.Thr279=)
c.*213A>C (n.*213A>C)
c.921A>C (p.Thr307=)
c.816A>C (p.Thr272=)
c.807A>C (p.Thr269=)
c.714A>C (p.Thr238=)
c.42A>C (p.Thr14=)
 dbSNP
5g.112815551A>GCA445755703APCc.891A>G (p.Thr297=)
n.947A>G
c.*897A>G (n.*897A>G)
c.837A>G (p.Thr279=)
c.*213A>G (n.*213A>G)
c.921A>G (p.Thr307=)
c.816A>G (p.Thr272=)
c.807A>G (p.Thr269=)
c.714A>G (p.Thr238=)
c.42A>G (p.Thr14=)
 ClinVar gnomAD v4
5g.112815551A>TCA445755704APCc.891A>T (p.Thr297=)
n.947A>T
c.*897A>T (n.*897A>T)
c.837A>T (p.Thr279=)
c.*213A>T (n.*213A>T)
c.921A>T (p.Thr307=)
c.816A>T (p.Thr272=)
c.807A>T (p.Thr269=)
c.714A>T (p.Thr238=)
c.42A>T (p.Thr14=)
 dbSNP
5g.112815552C>ACA16023267APCc.892C>A (p.His298Asn)
n.948C>A
c.*898C>A (n.*898C>A)
c.838C>A (p.His280Asn)
c.*214C>A (n.*214C>A)
c.922C>A (p.His308Asn)
c.817C>A (p.His273Asn)
c.808C>A (p.His270Asn)
c.715C>A (p.His239Asn)
c.43C>A (p.His15Asn)
 ClinVar
5g.112815552C=CA1573484842APCc.892C= (p.His298=)
n.948C=
c.*898C= (n.*898C=)
c.838C= (p.His280=)
c.*214C= (n.*214C=)
c.922C= (p.His308=)
c.817C= (p.His273=)
c.808C= (p.His270=)
c.715C= (p.His239=)
c.43C= (p.His15=)
5g.112815552C>GCA16023268APCc.892C>G (p.His298Asp)
n.948C>G
c.*898C>G (n.*898C>G)
c.838C>G (p.His280Asp)
c.*214C>G (n.*214C>G)
c.922C>G (p.His308Asp)
c.817C>G (p.His273Asp)
c.808C>G (p.His270Asp)
c.715C>G (p.His239Asp)
c.43C>G (p.His15Asp)
 ClinVar dbSNP
5g.112815552C>TCA16023269APCc.892C>T (p.His298Tyr)
n.948C>T
c.*898C>T (n.*898C>T)
c.838C>T (p.His280Tyr)
c.*214C>T (n.*214C>T)
c.922C>T (p.His308Tyr)
c.817C>T (p.His273Tyr)
c.808C>T (p.His270Tyr)
c.715C>T (p.His239Tyr)
c.43C>T (p.His15Tyr)
 ClinVar dbSNP gnomAD v4
5g.112815553_112815556delCA2582341280APCc.893_896del (p.His298LeufsTer6)
n.949_952del
c.*899_*902del (n.*899_*902del)
c.839_842del (p.His280LeufsTer6)
c.*215_*218del (n.*215_*218del)
c.923_926del (p.His308LeufsTer6)
c.818_821del (p.His273LeufsTer6)
c.809_812del (p.His270LeufsTer6)
c.716_719del (p.His239LeufsTer6)
c.44_47del (p.His15LeufsTer6)
 ClinVar
5g.112815553delCA2580072287APCc.893del (p.His298ProfsTer7)
n.949del
c.*899del (n.*899del)
c.839del (p.His280ProfsTer7)
c.*215del (n.*215del)
c.923del (p.His308ProfsTer7)
c.818del (p.His273ProfsTer7)
c.809del (p.His270ProfsTer7)
c.716del (p.His239ProfsTer7)
c.44del (p.His15ProfsTer7)
 ClinVar
5g.112815553A=CA1573484856APCc.893A= (p.His298=)
n.949A=
c.*899A= (n.*899A=)
c.839A= (p.His280=)
c.*215A= (n.*215A=)
c.923A= (p.His308=)
c.818A= (p.His273=)
c.809A= (p.His270=)
c.716A= (p.His239=)
c.44A= (p.His15=)
5g.112815553A>CCA16023270APCc.893A>C (p.His298Pro)
n.949A>C
c.*899A>C (n.*899A>C)
c.839A>C (p.His280Pro)
c.*215A>C (n.*215A>C)
c.923A>C (p.His308Pro)
c.818A>C (p.His273Pro)
c.809A>C (p.His270Pro)
c.716A>C (p.His239Pro)
c.44A>C (p.His15Pro)
 dbSNP
5g.112815553A>GCA16023271APCc.893A>G (p.His298Arg)
n.949A>G
c.*899A>G (n.*899A>G)
c.839A>G (p.His280Arg)
c.*215A>G (n.*215A>G)
c.923A>G (p.His308Arg)
c.818A>G (p.His273Arg)
c.809A>G (p.His270Arg)
c.716A>G (p.His239Arg)
c.44A>G (p.His15Arg)
 ClinVar dbSNP gnomAD v4
5g.112815553A>TCA16023272APCc.893A>T (p.His298Leu)
n.949A>T
c.*899A>T (n.*899A>T)
c.839A>T (p.His280Leu)
c.*215A>T (n.*215A>T)
c.923A>T (p.His308Leu)
c.818A>T (p.His273Leu)
c.809A>T (p.His270Leu)
c.716A>T (p.His239Leu)
c.44A>T (p.His15Leu)
 dbSNP gnomAD v4
5g.112815553_112815555delinsACTCA1573484853APCc.893_895delinsACT (p.His298=)
n.949_951delinsACT
c.*899_*901delinsACT (n.*899_*901delinsACT)
c.839_841delinsACT (p.His280=)
c.*215_*217delinsACT (n.*215_*217delinsACT)
c.923_925delinsACT (p.His308=)
c.818_820delinsACT (p.His273=)
c.809_811delinsACT (p.His270=)
c.716_718delinsACT (p.His239=)
c.44_46delinsACT (p.His15=)
5g.112815554C>ACA16023273APCc.894C>A (p.His298Gln)
n.950C>A
c.*900C>A (n.*900C>A)
c.840C>A (p.His280Gln)
c.*216C>A (n.*216C>A)
c.924C>A (p.His308Gln)
c.819C>A (p.His273Gln)
c.810C>A (p.His270Gln)
c.717C>A (p.His239Gln)
c.45C>A (p.His15Gln)
5g.112815554C=CA1573484866APCc.894C= (p.His298=)
n.950C=
c.*900C= (n.*900C=)
c.840C= (p.His280=)
c.*216C= (n.*216C=)
c.924C= (p.His308=)
c.819C= (p.His273=)
c.810C= (p.His270=)
c.717C= (p.His239=)
c.45C= (p.His15=)
5g.112815554C>GCA16023274APCc.894C>G (p.His298Gln)
n.950C>G
c.*900C>G (n.*900C>G)
c.840C>G (p.His280Gln)
c.*216C>G (n.*216C>G)
c.924C>G (p.His308Gln)
c.819C>G (p.His273Gln)
c.810C>G (p.His270Gln)
c.717C>G (p.His239Gln)
c.45C>G (p.His15Gln)
 dbSNP gnomAD v4
5g.112815554C>TCA051055APCc.894C>T (p.His298=)
n.950C>T
c.*900C>T (n.*900C>T)
c.840C>T (p.His280=)
c.*216C>T (n.*216C>T)
c.924C>T (p.His308=)
c.819C>T (p.His273=)
c.810C>T (p.His270=)
c.717C>T (p.His239=)
c.45C>T (p.His15=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815556_112815557delCA015634APCc.896_897del (p.Ser299CysfsTer27)
n.952_953del
c.*902_*903del (n.*902_*903del)
c.842_843del (p.Ser281CysfsTer27)
c.*218_*219del (n.*218_*219del)
c.926_927del (p.Ser309CysfsTer27)
c.821_822del (p.Ser274CysfsTer27)
c.812_813del (p.Ser271CysfsTer27)
c.719_720del (p.Ser240CysfsTer27)
c.926_927del (p.Ser309CysfsTer18)
c.896_897del (p.Ser299CysfsTer18)
c.821_822del (p.Ser274CysfsTer18)
c.719_720del (p.Ser240CysfsTer18)
c.47_48del (p.Ser16CysfsTer27)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112815555T>ACA051068APCc.895T>A (p.Ser299Thr)
n.951T>A
c.*901T>A (n.*901T>A)
c.841T>A (p.Ser281Thr)
c.*217T>A (n.*217T>A)
c.925T>A (p.Ser309Thr)
c.820T>A (p.Ser274Thr)
c.811T>A (p.Ser271Thr)
c.718T>A (p.Ser240Thr)
c.46T>A (p.Ser16Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815555T>CCA16023275APCc.895T>C (p.Ser299Pro)
n.951T>C
c.*901T>C (n.*901T>C)
c.841T>C (p.Ser281Pro)
c.*217T>C (n.*217T>C)
c.925T>C (p.Ser309Pro)
c.820T>C (p.Ser274Pro)
c.811T>C (p.Ser271Pro)
c.718T>C (p.Ser240Pro)
c.46T>C (p.Ser16Pro)
5g.112815555T>GCA16023276APCc.895T>G (p.Ser299Ala)
n.951T>G
c.*901T>G (n.*901T>G)
c.841T>G (p.Ser281Ala)
c.*217T>G (n.*217T>G)
c.925T>G (p.Ser309Ala)
c.820T>G (p.Ser274Ala)
c.811T>G (p.Ser271Ala)
c.718T>G (p.Ser240Ala)
c.46T>G (p.Ser16Ala)
 ClinVar
5g.112815555T=CA1573484872APCc.895T= (p.Ser299=)
n.951T=
c.*901T= (n.*901T=)
c.841T= (p.Ser281=)
c.*217T= (n.*217T=)
c.925T= (p.Ser309=)
c.820T= (p.Ser274=)
c.811T= (p.Ser271=)
c.718T= (p.Ser240=)
c.46T= (p.Ser16=)
5g.112815556C>ACA16023277APCc.896C>A (p.Ser299Tyr)
n.952C>A
c.*902C>A (n.*902C>A)
c.842C>A (p.Ser281Tyr)
c.*218C>A (n.*218C>A)
c.926C>A (p.Ser309Tyr)
c.821C>A (p.Ser274Tyr)
c.812C>A (p.Ser271Tyr)
c.719C>A (p.Ser240Tyr)
c.47C>A (p.Ser16Tyr)
5g.112815556C=CA1573484878APCc.896C= (p.Ser299=)
n.952C=
c.*902C= (n.*902C=)
c.842C= (p.Ser281=)
c.*218C= (n.*218C=)
c.926C= (p.Ser309=)
c.821C= (p.Ser274=)
c.812C= (p.Ser271=)
c.719C= (p.Ser240=)
c.47C= (p.Ser16=)
5g.112815556C>GCA16023278APCc.896C>G (p.Ser299Cys)
n.952C>G
c.*902C>G (n.*902C>G)
c.842C>G (p.Ser281Cys)
c.*218C>G (n.*218C>G)
c.926C>G (p.Ser309Cys)
c.821C>G (p.Ser274Cys)
c.812C>G (p.Ser271Cys)
c.719C>G (p.Ser240Cys)
c.47C>G (p.Ser16Cys)
 ClinVar dbSNP gnomAD v4
5g.112815556C>TCA16023279APCc.896C>T (p.Ser299Phe)
n.952C>T
c.*902C>T (n.*902C>T)
c.842C>T (p.Ser281Phe)
c.*218C>T (n.*218C>T)
c.926C>T (p.Ser309Phe)
c.821C>T (p.Ser274Phe)
c.812C>T (p.Ser271Phe)
c.719C>T (p.Ser240Phe)
c.47C>T (p.Ser16Phe)
 dbSNP
5g.112815556_112815571delinsGGCA2695205027APCc.896_911delinsGG (p.Ser299TrpfsTer23)
n.952_967delinsGG
c.*902_*917delinsGG (n.*902_*917delinsGG)
c.842_857delinsGG (p.Ser281TrpfsTer23)
c.*218_*233delinsGG (n.*218_*233delinsGG)
c.926_941delinsGG (p.Ser309TrpfsTer23)
c.821_836delinsGG (p.Ser274TrpfsTer23)
c.812_827delinsGG (p.Ser271TrpfsTer23)
c.719_734delinsGG (p.Ser240TrpfsTer23)
c.926_941delinsGG (p.Ser309TrpfsTer14)
c.896_911delinsGG (p.Ser299TrpfsTer14)
c.821_836delinsGG (p.Ser274TrpfsTer14)
c.719_734delinsGG (p.Ser240TrpfsTer14)
c.47_62delinsGG (p.Ser16TrpfsTer23)
5g.112815557delCA2582341283APCc.897del (p.Ala300HisfsTer5)
n.953del
c.*903del (n.*903del)
c.843del (p.Ala282HisfsTer5)
c.*219del (n.*219del)
c.927del (p.Ala310HisfsTer5)
c.822del (p.Ala275HisfsTer5)
c.813del (p.Ala272HisfsTer5)
c.720del (p.Ala241HisfsTer5)
c.48del (p.Ala17HisfsTer5)
 ClinVar
5g.112815557T>ACA445755705APCc.897T>A (p.Ser299=)
n.953T>A
c.*903T>A (n.*903T>A)
c.843T>A (p.Ser281=)
c.*219T>A (n.*219T>A)
c.927T>A (p.Ser309=)
c.822T>A (p.Ser274=)
c.813T>A (p.Ser271=)
c.720T>A (p.Ser240=)
c.48T>A (p.Ser16=)
 ClinVar
5g.112815557T>CCA445755706APCc.897T>C (p.Ser299=)
n.953T>C
c.*903T>C (n.*903T>C)
c.843T>C (p.Ser281=)
c.*219T>C (n.*219T>C)
c.927T>C (p.Ser309=)
c.822T>C (p.Ser274=)
c.813T>C (p.Ser271=)
c.720T>C (p.Ser240=)
c.48T>C (p.Ser16=)
 dbSNP gnomAD v3 gnomAD v4
5g.112815557T>GCA445755707APCc.897T>G (p.Ser299=)
n.953T>G
c.*903T>G (n.*903T>G)
c.843T>G (p.Ser281=)
c.*219T>G (n.*219T>G)
c.927T>G (p.Ser309=)
c.822T>G (p.Ser274=)
c.813T>G (p.Ser271=)
c.720T>G (p.Ser240=)
c.48T>G (p.Ser16=)
 ClinVar
5g.112815557T=CA1573484881APCc.897T= (p.Ser299=)
n.953T=
c.*903T= (n.*903T=)
c.843T= (p.Ser281=)
c.*219T= (n.*219T=)
c.927T= (p.Ser309=)
c.822T= (p.Ser274=)
c.813T= (p.Ser271=)
c.720T= (p.Ser240=)
c.48T= (p.Ser16=)
5g.112815558G>ACA16023280APCc.898G>A (p.Ala300Thr)
n.954G>A
c.*904G>A (n.*904G>A)
c.844G>A (p.Ala282Thr)
c.*220G>A (n.*220G>A)
c.928G>A (p.Ala310Thr)
c.823G>A (p.Ala275Thr)
c.814G>A (p.Ala272Thr)
c.721G>A (p.Ala241Thr)
c.49G>A (p.Ala17Thr)
 ClinVar dbSNP
5g.112815558G>CCA16023281APCc.898G>C (p.Ala300Pro)
n.954G>C
c.*904G>C (n.*904G>C)
c.844G>C (p.Ala282Pro)
c.*220G>C (n.*220G>C)
c.928G>C (p.Ala310Pro)
c.823G>C (p.Ala275Pro)
c.814G>C (p.Ala272Pro)
c.721G>C (p.Ala241Pro)
c.49G>C (p.Ala17Pro)
 dbSNP
5g.112815558G=CA1573484884APCc.898G= (p.Ala300=)
n.954G=
c.*904G= (n.*904G=)
c.844G= (p.Ala282=)
c.*220G= (n.*220G=)
c.928G= (p.Ala310=)
c.823G= (p.Ala275=)
c.814G= (p.Ala272=)
c.721G= (p.Ala241=)
c.49G= (p.Ala17=)
5g.112815558G>TCA16023282APCc.898G>T (p.Ala300Ser)
n.954G>T
c.*904G>T (n.*904G>T)
c.844G>T (p.Ala282Ser)
c.*220G>T (n.*220G>T)
c.928G>T (p.Ala310Ser)
c.823G>T (p.Ala275Ser)
c.814G>T (p.Ala272Ser)
c.721G>T (p.Ala241Ser)
c.49G>T (p.Ala17Ser)
 ClinVar dbSNP
5g.112815558dupCA2580072291APCc.898dup (p.Ala300GlyfsTer27)
n.954dup
c.*904dup (n.*904dup)
c.844dup (p.Ala282GlyfsTer27)
c.*220dup (n.*220dup)
c.928dup (p.Ala310GlyfsTer27)
c.823dup (p.Ala275GlyfsTer27)
c.814dup (p.Ala272GlyfsTer27)
c.721dup (p.Ala241GlyfsTer27)
c.928dup (p.Ala310GlyfsTer18)
c.898dup (p.Ala300GlyfsTer18)
c.823dup (p.Ala275GlyfsTer18)
c.721dup (p.Ala241GlyfsTer18)
c.49dup (p.Ala17GlyfsTer27)
 ClinVar
5g.112815559delCA2582341284APCc.899del (p.Ala300AspfsTer5)
n.955del
c.*905del (n.*905del)
c.845del (p.Ala282AspfsTer5)
c.*221del (n.*221del)
c.929del (p.Ala310AspfsTer5)
c.824del (p.Ala275AspfsTer5)
c.815del (p.Ala272AspfsTer5)
c.722del (p.Ala241AspfsTer5)
c.50del (p.Ala17AspfsTer5)
 ClinVar
5g.112815559C>ACA16023283APCc.899C>A (p.Ala300Glu)
n.955C>A
c.*905C>A (n.*905C>A)
c.845C>A (p.Ala282Glu)
c.*221C>A (n.*221C>A)
c.929C>A (p.Ala310Glu)
c.824C>A (p.Ala275Glu)
c.815C>A (p.Ala272Glu)
c.722C>A (p.Ala241Glu)
c.50C>A (p.Ala17Glu)
 dbSNP
5g.112815559C=CA1573484887APCc.899C= (p.Ala300=)
n.955C=
c.*905C= (n.*905C=)
c.845C= (p.Ala282=)
c.*221C= (n.*221C=)
c.929C= (p.Ala310=)
c.824C= (p.Ala275=)
c.815C= (p.Ala272=)
c.722C= (p.Ala241=)
c.50C= (p.Ala17=)
5g.112815559C>GCA16023284APCc.899C>G (p.Ala300Gly)
n.955C>G
c.*905C>G (n.*905C>G)
c.845C>G (p.Ala282Gly)
c.*221C>G (n.*221C>G)
c.929C>G (p.Ala310Gly)
c.824C>G (p.Ala275Gly)
c.815C>G (p.Ala272Gly)
c.722C>G (p.Ala241Gly)
c.50C>G (p.Ala17Gly)
 dbSNP
5g.112815559C>TCA16023285APCc.899C>T (p.Ala300Val)
n.955C>T
c.*905C>T (n.*905C>T)
c.845C>T (p.Ala282Val)
c.*221C>T (n.*221C>T)
c.929C>T (p.Ala310Val)
c.824C>T (p.Ala275Val)
c.815C>T (p.Ala272Val)
c.722C>T (p.Ala241Val)
c.50C>T (p.Ala17Val)
 ClinVar dbSNP
5g.112815560_112815561delCA658760490APCc.900_901del (p.Pro301SerfsTer25)
n.956_957del
c.*906_*907del (n.*906_*907del)
c.846_847del (p.Pro283SerfsTer25)
c.*222_*223del (n.*222_*223del)
c.930_931del (p.Pro311SerfsTer25)
c.825_826del (p.Pro276SerfsTer25)
c.816_817del (p.Pro273SerfsTer25)
c.723_724del (p.Pro242SerfsTer25)
c.930_931del (p.Pro311SerfsTer16)
c.900_901del (p.Pro301SerfsTer16)
c.825_826del (p.Pro276SerfsTer16)
c.723_724del (p.Pro242SerfsTer16)
c.51_52del (p.Pro18SerfsTer25)
5g.112815560A=CA1573484897APCc.900A= (p.Ala300=)
n.956A=
c.*906A= (n.*906A=)
c.846A= (p.Ala282=)
c.*222A= (n.*222A=)
c.930A= (p.Ala310=)
c.825A= (p.Ala275=)
c.816A= (p.Ala272=)
c.723A= (p.Ala241=)
c.51A= (p.Ala17=)
5g.112815560A>CCA051078APCc.900A>C (p.Ala300=)
n.956A>C
c.*906A>C (n.*906A>C)
c.846A>C (p.Ala282=)
c.*222A>C (n.*222A>C)
c.930A>C (p.Ala310=)
c.825A>C (p.Ala275=)
c.816A>C (p.Ala272=)
c.723A>C (p.Ala241=)
c.51A>C (p.Ala17=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112815560A>GCA445755709APCc.900A>G (p.Ala300=)
n.956A>G
c.*906A>G (n.*906A>G)
c.846A>G (p.Ala282=)
c.*222A>G (n.*222A>G)
c.930A>G (p.Ala310=)
c.825A>G (p.Ala275=)
c.816A>G (p.Ala272=)
c.723A>G (p.Ala241=)
c.51A>G (p.Ala17=)
 ClinVar dbSNP
5g.112815560A>TCA445755708APCc.900A>T (p.Ala300=)
n.956A>T
c.*906A>T (n.*906A>T)
c.846A>T (p.Ala282=)
c.*222A>T (n.*222A>T)
c.930A>T (p.Ala310=)
c.825A>T (p.Ala275=)
c.816A>T (p.Ala272=)
c.723A>T (p.Ala241=)
c.51A>T (p.Ala17=)
 dbSNP
5g.112815561C>ACA16023286APCc.901C>A (p.Pro301Thr)
n.957C>A
c.*907C>A (n.*907C>A)
c.847C>A (p.Pro283Thr)
c.*223C>A (n.*223C>A)
c.931C>A (p.Pro311Thr)
c.826C>A (p.Pro276Thr)
c.817C>A (p.Pro273Thr)
c.724C>A (p.Pro242Thr)
c.52C>A (p.Pro18Thr)
 ClinVar dbSNP
5g.112815561C=CA1573484907APCc.901C= (p.Pro301=)
n.957C=
c.*907C= (n.*907C=)
c.847C= (p.Pro283=)
c.*223C= (n.*223C=)
c.931C= (p.Pro311=)
c.826C= (p.Pro276=)
c.817C= (p.Pro273=)
c.724C= (p.Pro242=)
c.52C= (p.Pro18=)
5g.112815561C>GCA16023287APCc.901C>G (p.Pro301Ala)
n.957C>G
c.*907C>G (n.*907C>G)
c.847C>G (p.Pro283Ala)
c.*223C>G (n.*223C>G)
c.931C>G (p.Pro311Ala)
c.826C>G (p.Pro276Ala)
c.817C>G (p.Pro273Ala)
c.724C>G (p.Pro242Ala)
c.52C>G (p.Pro18Ala)
 dbSNP
5g.112815561C>TCA16023288APCc.901C>T (p.Pro301Ser)
n.957C>T
c.*907C>T (n.*907C>T)
c.847C>T (p.Pro283Ser)
c.*223C>T (n.*223C>T)
c.931C>T (p.Pro311Ser)
c.826C>T (p.Pro276Ser)
c.817C>T (p.Pro273Ser)
c.724C>T (p.Pro242Ser)
c.52C>T (p.Pro18Ser)
 ClinVar dbSNP
5g.112815562delCA2582341285APCc.902del (p.Pro301LeufsTer4)
n.958del
c.*908del (n.*908del)
c.848del (p.Pro283LeufsTer4)
c.*224del (n.*224del)
c.932del (p.Pro311LeufsTer4)
c.827del (p.Pro276LeufsTer4)
c.818del (p.Pro273LeufsTer4)
c.725del (p.Pro242LeufsTer4)
c.53del (p.Pro18LeufsTer4)
 ClinVar
5g.112815562C>ACA16023289APCc.902C>A (p.Pro301His)
n.958C>A
c.*908C>A (n.*908C>A)
c.848C>A (p.Pro283His)
c.*224C>A (n.*224C>A)
c.932C>A (p.Pro311His)
c.827C>A (p.Pro276His)
c.818C>A (p.Pro273His)
c.725C>A (p.Pro242His)
c.53C>A (p.Pro18His)
5g.112815562C>GCA16023290APCc.902C>G (p.Pro301Arg)
n.958C>G
c.*908C>G (n.*908C>G)
c.848C>G (p.Pro283Arg)
c.*224C>G (n.*224C>G)
c.932C>G (p.Pro311Arg)
c.827C>G (p.Pro276Arg)
c.818C>G (p.Pro273Arg)
c.725C>G (p.Pro242Arg)
c.53C>G (p.Pro18Arg)
 dbSNP
5g.112815562C>TCA16023291APCc.902C>T (p.Pro301Leu)
n.958C>T
c.*908C>T (n.*908C>T)
c.848C>T (p.Pro283Leu)
c.*224C>T (n.*224C>T)
c.932C>T (p.Pro311Leu)
c.827C>T (p.Pro276Leu)
c.818C>T (p.Pro273Leu)
c.725C>T (p.Pro242Leu)
c.53C>T (p.Pro18Leu)
 ClinVar COSMIC
5g.112815563T>ACA445755710APCc.903T>A (p.Pro301=)
n.959T>A
c.*909T>A (n.*909T>A)
c.849T>A (p.Pro283=)
c.*225T>A (n.*225T>A)
c.933T>A (p.Pro311=)
c.828T>A (p.Pro276=)
c.819T>A (p.Pro273=)
c.726T>A (p.Pro242=)
c.54T>A (p.Pro18=)
 ClinVar dbSNP
5g.112815563T>CCA445755711APCc.903T>C (p.Pro301=)
n.959T>C
c.*909T>C (n.*909T>C)
c.849T>C (p.Pro283=)
c.*225T>C (n.*225T>C)
c.933T>C (p.Pro311=)
c.828T>C (p.Pro276=)
c.819T>C (p.Pro273=)
c.726T>C (p.Pro242=)
c.54T>C (p.Pro18=)
5g.112815563T>GCA445755712APCc.903T>G (p.Pro301=)
n.959T>G
c.*909T>G (n.*909T>G)
c.849T>G (p.Pro283=)
c.*225T>G (n.*225T>G)
c.933T>G (p.Pro311=)
c.828T>G (p.Pro276=)
c.819T>G (p.Pro273=)
c.726T>G (p.Pro242=)
c.54T>G (p.Pro18=)
 ClinVar dbSNP gnomAD v4
5g.112815563T=CA1573484922APCc.903T= (p.Pro301=)
n.959T=
c.*909T= (n.*909T=)
c.849T= (p.Pro283=)
c.*225T= (n.*225T=)
c.933T= (p.Pro311=)
c.828T= (p.Pro276=)
c.819T= (p.Pro273=)
c.726T= (p.Pro242=)
c.54T= (p.Pro18=)
5g.112815564C>ACA445755713APCc.904C>A (p.Arg302=)
n.960C>A
c.*910C>A (n.*910C>A)
c.850C>A (p.Arg284=)
c.*226C>A (n.*226C>A)
c.934C>A (p.Arg312=)
c.829C>A (p.Arg277=)
c.820C>A (p.Arg274=)
c.727C>A (p.Arg243=)
c.55C>A (p.Arg19=)
 ClinVar dbSNP
5g.112815564C=CA1573484934APCc.904C= (p.Arg302=)
n.960C=
c.*910C= (n.*910C=)
c.850C= (p.Arg284=)
c.*226C= (n.*226C=)
c.934C= (p.Arg312=)
c.829C= (p.Arg277=)
c.820C= (p.Arg274=)
c.727C= (p.Arg243=)
c.55C= (p.Arg19=)
5g.112815564C>GCA16023292APCc.904C>G (p.Arg302Gly)
n.960C>G
c.*910C>G (n.*910C>G)
c.850C>G (p.Arg284Gly)
c.*226C>G (n.*226C>G)
c.934C>G (p.Arg312Gly)
c.829C>G (p.Arg277Gly)
c.820C>G (p.Arg274Gly)
c.727C>G (p.Arg243Gly)
c.55C>G (p.Arg19Gly)
 ClinVar dbSNP gnomAD v4
5g.112815564C>TCA015644APCc.904C>T (p.Arg302Ter)
n.960C>T
c.*910C>T (n.*910C>T)
c.850C>T (p.Arg284Ter)
c.*226C>T (n.*226C>T)
c.934C>T (p.Arg312Ter)
c.829C>T (p.Arg277Ter)
c.820C>T (p.Arg274Ter)
c.727C>T (p.Arg243Ter)
c.55C>T (p.Arg19Ter)
 ClinVar dbSNP COSMIC
5g.112815565G>ACA16023293APCc.905G>A (p.Arg302Gln)
n.961G>A
c.*911G>A (n.*911G>A)
c.851G>A (p.Arg284Gln)
c.*227G>A (n.*227G>A)
c.935G>A (p.Arg312Gln)
c.830G>A (p.Arg277Gln)
c.821G>A (p.Arg274Gln)
c.728G>A (p.Arg243Gln)
c.56G>A (p.Arg19Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112815565G>CCA16023294APCc.905G>C (p.Arg302Pro)
n.961G>C
c.*911G>C (n.*911G>C)
c.851G>C (p.Arg284Pro)
c.*227G>C (n.*227G>C)
c.935G>C (p.Arg312Pro)
c.830G>C (p.Arg277Pro)
c.821G>C (p.Arg274Pro)
c.728G>C (p.Arg243Pro)
c.56G>C (p.Arg19Pro)
 ClinVar dbSNP gnomAD v4
5g.112815565G=CA1573484941APCc.905G= (p.Arg302=)
n.961G=
c.*911G= (n.*911G=)
c.851G= (p.Arg284=)
c.*227G= (n.*227G=)
c.935G= (p.Arg312=)
c.830G= (p.Arg277=)
c.821G= (p.Arg274=)
c.728G= (p.Arg243=)
c.56G= (p.Arg19=)
5g.112815565G>TCA16023295APCc.905G>T (p.Arg302Leu)
n.961G>T
c.*911G>T (n.*911G>T)
c.851G>T (p.Arg284Leu)
c.*227G>T (n.*227G>T)
c.935G>T (p.Arg312Leu)
c.830G>T (p.Arg277Leu)
c.821G>T (p.Arg274Leu)
c.728G>T (p.Arg243Leu)
c.56G>T (p.Arg19Leu)
 dbSNP
5g.112815566A>CCA445755714APCc.906A>C (p.Arg302=)
n.962A>C
c.*912A>C (n.*912A>C)
c.852A>C (p.Arg284=)
c.*228A>C (n.*228A>C)
c.936A>C (p.Arg312=)
c.831A>C (p.Arg277=)
c.822A>C (p.Arg274=)
c.729A>C (p.Arg243=)
c.57A>C (p.Arg19=)
 ClinVar
5g.112815566A>GCA445755715APCc.906A>G (p.Arg302=)
n.962A>G
c.*912A>G (n.*912A>G)
c.852A>G (p.Arg284=)
c.*228A>G (n.*228A>G)
c.936A>G (p.Arg312=)
c.831A>G (p.Arg277=)
c.822A>G (p.Arg274=)
c.729A>G (p.Arg243=)
c.57A>G (p.Arg19=)
 dbSNP
5g.112815566A>TCA445755716APCc.906A>T (p.Arg302=)
n.962A>T
c.*912A>T (n.*912A>T)
c.852A>T (p.Arg284=)
c.*228A>T (n.*228A>T)
c.936A>T (p.Arg312=)
c.831A>T (p.Arg277=)
c.822A>T (p.Arg274=)
c.729A>T (p.Arg243=)
c.57A>T (p.Arg19=)
 ClinVar dbSNP
5g.112815567delCA2582341290APCc.907del (p.Arg303GlyfsTer2)
n.963del
c.*913del (n.*913del)
c.853del (p.Arg285GlyfsTer2)
c.*229del (n.*229del)
c.937del (p.Arg313GlyfsTer2)
c.832del (p.Arg278GlyfsTer2)
c.823del (p.Arg275GlyfsTer2)
c.730del (p.Arg244GlyfsTer2)
c.58del (p.Arg20GlyfsTer2)
 ClinVar
5g.112815567A>CCA445755717APCc.907A>C (p.Arg303=)
n.963A>C
c.*913A>C (n.*913A>C)
c.853A>C (p.Arg285=)
c.*229A>C (n.*229A>C)
c.937A>C (p.Arg313=)
c.832A>C (p.Arg278=)
c.823A>C (p.Arg275=)
c.730A>C (p.Arg244=)
c.58A>C (p.Arg20=)
 ClinVar
5g.112815567A>GCA16023296APCc.907A>G (p.Arg303Gly)
n.963A>G
c.*913A>G (n.*913A>G)
c.853A>G (p.Arg285Gly)
c.*229A>G (n.*229A>G)
c.937A>G (p.Arg313Gly)
c.832A>G (p.Arg278Gly)
c.823A>G (p.Arg275Gly)
c.730A>G (p.Arg244Gly)
c.58A>G (p.Arg20Gly)
5g.112815567A>TCA16023297APCc.907A>T (p.Arg303Trp)
n.963A>T
c.*913A>T (n.*913A>T)
c.853A>T (p.Arg285Trp)
c.*229A>T (n.*229A>T)
c.937A>T (p.Arg313Trp)
c.832A>T (p.Arg278Trp)
c.823A>T (p.Arg275Trp)
c.730A>T (p.Arg244Trp)
c.58A>T (p.Arg20Trp)
5g.112815568G>ACA16023298APCc.908G>A (p.Arg303Lys)
n.964G>A
c.*914G>A (n.*914G>A)
c.854G>A (p.Arg285Lys)
c.*230G>A (n.*230G>A)
c.938G>A (p.Arg313Lys)
c.833G>A (p.Arg278Lys)
c.824G>A (p.Arg275Lys)
c.731G>A (p.Arg244Lys)
c.59G>A (p.Arg20Lys)
 dbSNP COSMIC
5g.112815568G>CCA16023299APCc.908G>C (p.Arg303Thr)
n.964G>C
c.*914G>C (n.*914G>C)
c.854G>C (p.Arg285Thr)
c.*230G>C (n.*230G>C)
c.938G>C (p.Arg313Thr)
c.833G>C (p.Arg278Thr)
c.824G>C (p.Arg275Thr)
c.731G>C (p.Arg244Thr)
c.59G>C (p.Arg20Thr)
 dbSNP
5g.112815568G>TCA16023300APCc.908G>T (p.Arg303Met)
n.964G>T
c.*914G>T (n.*914G>T)
c.854G>T (p.Arg285Met)
c.*230G>T (n.*230G>T)
c.938G>T (p.Arg313Met)
c.833G>T (p.Arg278Met)
c.824G>T (p.Arg275Met)
c.731G>T (p.Arg244Met)
c.59G>T (p.Arg20Met)
 dbSNP
5g.112815569delCA2580072295APCc.909del (p.Arg303SerfsTer2)
n.965del
c.*915del (n.*915del)
c.855del (p.Arg285SerfsTer2)
c.*231del (n.*231del)
c.939del (p.Arg313SerfsTer2)
c.834del (p.Arg278SerfsTer2)
c.825del (p.Arg275SerfsTer2)
c.732del (p.Arg244SerfsTer2)
c.60del (p.Arg20SerfsTer2)
 ClinVar
5g.112815569G>ACA445755718APCc.909G>A (p.Arg303=)
n.965G>A
c.*915G>A (n.*915G>A)
c.855G>A (p.Arg285=)
c.*231G>A (n.*231G>A)
c.939G>A (p.Arg313=)
c.834G>A (p.Arg278=)
c.825G>A (p.Arg275=)
c.732G>A (p.Arg244=)
c.60G>A (p.Arg20=)
 ClinVar dbSNP gnomAD v4
5g.112815569G>CCA16023301APCc.909G>C (p.Arg303Ser)
n.965G>C
c.*915G>C (n.*915G>C)
c.855G>C (p.Arg285Ser)
c.*231G>C (n.*231G>C)
c.939G>C (p.Arg313Ser)
c.834G>C (p.Arg278Ser)
c.825G>C (p.Arg275Ser)
c.732G>C (p.Arg244Ser)
c.60G>C (p.Arg20Ser)
5g.112815569G=CA1573484947APCc.909G= (p.Arg303=)
n.965G=
c.*915G= (n.*915G=)
c.855G= (p.Arg285=)
c.*231G= (n.*231G=)
c.939G= (p.Arg313=)
c.834G= (p.Arg278=)
c.825G= (p.Arg275=)
c.732G= (p.Arg244=)
c.60G= (p.Arg20=)
5g.112815569G>TCA16023302APCc.909G>T (p.Arg303Ser)
n.965G>T
c.*915G>T (n.*915G>T)
c.855G>T (p.Arg285Ser)
c.*231G>T (n.*231G>T)
c.939G>T (p.Arg313Ser)
c.834G>T (p.Arg278Ser)
c.825G>T (p.Arg275Ser)
c.732G>T (p.Arg244Ser)
c.60G>T (p.Arg20Ser)
5g.112815570C>ACA16023303APCc.910C>A (p.Leu304Met)
n.966C>A
c.*916C>A (n.*916C>A)
c.856C>A (p.Leu286Met)
c.*232C>A (n.*232C>A)
c.940C>A (p.Leu314Met)
c.835C>A (p.Leu279Met)
c.826C>A (p.Leu276Met)
c.733C>A (p.Leu245Met)
c.61C>A (p.Leu21Met)
5g.112815570C>GCA16023304APCc.910C>G (p.Leu304Val)
n.966C>G
c.*916C>G (n.*916C>G)
c.856C>G (p.Leu286Val)
c.*232C>G (n.*232C>G)
c.940C>G (p.Leu314Val)
c.835C>G (p.Leu279Val)
c.826C>G (p.Leu276Val)
c.733C>G (p.Leu245Val)
c.61C>G (p.Leu21Val)
 dbSNP gnomAD v4
5g.112815570C>TCA445755719APCc.910C>T (p.Leu304=)
n.966C>T
c.*916C>T (n.*916C>T)
c.856C>T (p.Leu286=)
c.*232C>T (n.*232C>T)
c.940C>T (p.Leu314=)
c.835C>T (p.Leu279=)
c.826C>T (p.Leu276=)
c.733C>T (p.Leu245=)
c.61C>T (p.Leu21=)
 dbSNP
5g.112815571T>ACA16023305APCc.911T>A (p.Leu304Gln)
n.967T>A
c.*917T>A (n.*917T>A)
c.857T>A (p.Leu286Gln)
c.*233T>A (n.*233T>A)
c.941T>A (p.Leu314Gln)
c.836T>A (p.Leu279Gln)
c.827T>A (p.Leu276Gln)
c.734T>A (p.Leu245Gln)
c.62T>A (p.Leu21Gln)
 dbSNP
5g.112815571T>CCA16023306APCc.911T>C (p.Leu304Pro)
n.967T>C
c.*917T>C (n.*917T>C)
c.857T>C (p.Leu286Pro)
c.*233T>C (n.*233T>C)
c.941T>C (p.Leu314Pro)
c.836T>C (p.Leu279Pro)
c.827T>C (p.Leu276Pro)
c.734T>C (p.Leu245Pro)
c.62T>C (p.Leu21Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112815571T>GCA16023307APCc.911T>G (p.Leu304Arg)
n.967T>G
c.*917T>G (n.*917T>G)
c.857T>G (p.Leu286Arg)
c.*233T>G (n.*233T>G)
c.941T>G (p.Leu314Arg)
c.836T>G (p.Leu279Arg)
c.827T>G (p.Leu276Arg)
c.734T>G (p.Leu245Arg)
c.62T>G (p.Leu21Arg)
5g.112815571T=CA1573484954APCc.911T= (p.Leu304=)
n.967T=
c.*917T= (n.*917T=)
c.857T= (p.Leu286=)
c.*233T= (n.*233T=)
c.941T= (p.Leu314=)
c.836T= (p.Leu279=)
c.827T= (p.Leu276=)
c.734T= (p.Leu245=)
c.62T= (p.Leu21=)
5g.112815572G>ACA445755720APCc.912G>A (p.Leu304=)
n.968G>A
c.*918G>A (n.*918G>A)
c.858G>A (p.Leu286=)
c.*234G>A (n.*234G>A)
c.942G>A (p.Leu314=)
c.837G>A (p.Leu279=)
c.828G>A (p.Leu276=)
c.735G>A (p.Leu245=)
c.63G>A (p.Leu21=)
 dbSNP
5g.112815572G>CCA445755721APCc.912G>C (p.Leu304=)
n.968G>C
c.*918G>C (n.*918G>C)
c.858G>C (p.Leu286=)
c.*234G>C (n.*234G>C)
c.942G>C (p.Leu314=)
c.837G>C (p.Leu279=)
c.828G>C (p.Leu276=)
c.735G>C (p.Leu245=)
c.63G>C (p.Leu21=)
 dbSNP gnomAD v4
5g.112815572G>TCA445755722APCc.912G>T (p.Leu304=)
n.968G>T
c.*918G>T (n.*918G>T)
c.858G>T (p.Leu286=)
c.*234G>T (n.*234G>T)
c.942G>T (p.Leu314=)
c.837G>T (p.Leu279=)
c.828G>T (p.Leu276=)
c.735G>T (p.Leu245=)
c.63G>T (p.Leu21=)
 dbSNP gnomAD v4
5g.112815572dupCA2582341292APCc.912dup (p.Thr305AspfsTer22)
n.968dup
c.*918dup (n.*918dup)
c.858dup (p.Thr287AspfsTer22)
c.*234dup (n.*234dup)
c.942dup (p.Thr315AspfsTer22)
c.837dup (p.Thr280AspfsTer22)
c.828dup (p.Thr277AspfsTer22)
c.735dup (p.Thr246AspfsTer22)
c.942dup (p.Thr315AspfsTer13)
c.912dup (p.Thr305AspfsTer13)
c.837dup (p.Thr280AspfsTer13)
c.735dup (p.Thr246AspfsTer13)
c.63dup (p.Thr22AspfsTer22)
 ClinVar
5g.112815573A=CA1573484983APCc.913A= (p.Thr305=)
n.969A=
c.*919A= (n.*919A=)
c.859A= (p.Thr287=)
c.*235A= (n.*235A=)
c.943A= (p.Thr315=)
c.838A= (p.Thr280=)
c.829A= (p.Thr277=)
c.736A= (p.Thr246=)
c.64A= (p.Thr22=)
5g.112815573A>CCA16023308APCc.913A>C (p.Thr305Pro)
n.969A>C
c.*919A>C (n.*919A>C)
c.859A>C (p.Thr287Pro)
c.*235A>C (n.*235A>C)
c.943A>C (p.Thr315Pro)
c.838A>C (p.Thr280Pro)
c.829A>C (p.Thr277Pro)
c.736A>C (p.Thr246Pro)
c.64A>C (p.Thr22Pro)
 dbSNP
5g.112815573A>GCA16023309APCc.913A>G (p.Thr305Ala)
n.969A>G
c.*919A>G (n.*919A>G)
c.859A>G (p.Thr287Ala)
c.*235A>G (n.*235A>G)
c.943A>G (p.Thr315Ala)
c.838A>G (p.Thr280Ala)
c.829A>G (p.Thr277Ala)
c.736A>G (p.Thr246Ala)
c.64A>G (p.Thr22Ala)
 ClinVar dbSNP gnomAD v4
5g.112815573A>TCA16023310APCc.913A>T (p.Thr305Ser)
n.969A>T
c.*919A>T (n.*919A>T)
c.859A>T (p.Thr287Ser)
c.*235A>T (n.*235A>T)
c.943A>T (p.Thr315Ser)
c.838A>T (p.Thr280Ser)
c.829A>T (p.Thr277Ser)
c.736A>T (p.Thr246Ser)
c.64A>T (p.Thr22Ser)
 ClinVar dbSNP
5g.112815574C>ACA16023311APCc.914C>A (p.Thr305Lys)
n.970C>A
c.*920C>A (n.*920C>A)
c.860C>A (p.Thr287Lys)
c.*236C>A (n.*236C>A)
c.944C>A (p.Thr315Lys)
c.839C>A (p.Thr280Lys)
c.830C>A (p.Thr277Lys)
c.737C>A (p.Thr246Lys)
c.65C>A (p.Thr22Lys)
 dbSNP
5g.112815574C>GCA16023312APCc.914C>G (p.Thr305Arg)
n.970C>G
c.*920C>G (n.*920C>G)
c.860C>G (p.Thr287Arg)
c.*236C>G (n.*236C>G)
c.944C>G (p.Thr315Arg)
c.839C>G (p.Thr280Arg)
c.830C>G (p.Thr277Arg)
c.737C>G (p.Thr246Arg)
c.65C>G (p.Thr22Arg)
 ClinVar dbSNP gnomAD v4
5g.112815574C>TCA16023313APCc.914C>T (p.Thr305Ile)
n.970C>T
c.*920C>T (n.*920C>T)
c.860C>T (p.Thr287Ile)
c.*236C>T (n.*236C>T)
c.944C>T (p.Thr315Ile)
c.839C>T (p.Thr280Ile)
c.830C>T (p.Thr277Ile)
c.737C>T (p.Thr246Ile)
c.65C>T (p.Thr22Ile)
5g.112815575A=CA1573484991APCc.915A= (p.Thr305=)
n.971A=
c.*921A= (n.*921A=)
c.861A= (p.Thr287=)
c.*237A= (n.*237A=)
c.945A= (p.Thr315=)
c.840A= (p.Thr280=)
c.831A= (p.Thr277=)
c.738A= (p.Thr246=)
c.66A= (p.Thr22=)
5g.112815575A>CCA445755725APCc.915A>C (p.Thr305=)
n.971A>C
c.*921A>C (n.*921A>C)
c.861A>C (p.Thr287=)
c.*237A>C (n.*237A>C)
c.945A>C (p.Thr315=)
c.840A>C (p.Thr280=)
c.831A>C (p.Thr277=)
c.738A>C (p.Thr246=)
c.66A>C (p.Thr22=)
5g.112815575A>GCA445755723APCc.915A>G (p.Thr305=)
n.971A>G
c.*921A>G (n.*921A>G)
c.861A>G (p.Thr287=)
c.*237A>G (n.*237A>G)
c.945A>G (p.Thr315=)
c.840A>G (p.Thr280=)
c.831A>G (p.Thr277=)
c.738A>G (p.Thr246=)
c.66A>G (p.Thr22=)
 ClinVar dbSNP
5g.112815575A>TCA445755724APCc.915A>T (p.Thr305=)
n.971A>T
c.*921A>T (n.*921A>T)
c.861A>T (p.Thr287=)
c.*237A>T (n.*237A>T)
c.945A>T (p.Thr315=)
c.840A>T (p.Thr280=)
c.831A>T (p.Thr277=)
c.738A>T (p.Thr246=)
c.66A>T (p.Thr22=)
 ClinVar
5g.112815576A=CA1573485002APCc.916A= (p.Ser306=)
n.972A=
c.*922A= (n.*922A=)
c.862A= (p.Ser288=)
c.*238A= (n.*238A=)
c.946A= (p.Ser316=)
c.841A= (p.Ser281=)
c.832A= (p.Ser278=)
c.739A= (p.Ser247=)
c.67A= (p.Ser23=)
5g.112815576A>CCA16023314APCc.916A>C (p.Ser306Arg)
n.972A>C
c.*922A>C (n.*922A>C)
c.862A>C (p.Ser288Arg)
c.*238A>C (n.*238A>C)
c.946A>C (p.Ser316Arg)
c.841A>C (p.Ser281Arg)
c.832A>C (p.Ser278Arg)
c.739A>C (p.Ser247Arg)
c.67A>C (p.Ser23Arg)
 ClinVar dbSNP
5g.112815576A>GCA16023315APCc.916A>G (p.Ser306Gly)
n.972A>G
c.*922A>G (n.*922A>G)
c.862A>G (p.Ser288Gly)
c.*238A>G (n.*238A>G)
c.946A>G (p.Ser316Gly)
c.841A>G (p.Ser281Gly)
c.832A>G (p.Ser278Gly)
c.739A>G (p.Ser247Gly)
c.67A>G (p.Ser23Gly)
 ClinVar dbSNP gnomAD v4
5g.112815576A>TCA16023316APCc.916A>T (p.Ser306Cys)
n.972A>T
c.*922A>T (n.*922A>T)
c.862A>T (p.Ser288Cys)
c.*238A>T (n.*238A>T)
c.946A>T (p.Ser316Cys)
c.841A>T (p.Ser281Cys)
c.832A>T (p.Ser278Cys)
c.739A>T (p.Ser247Cys)
c.67A>T (p.Ser23Cys)
 dbSNP
5g.112815577G>ACA16023317APCc.917G>A (p.Ser306Asn)
n.973G>A
c.*923G>A (n.*923G>A)
c.863G>A (p.Ser288Asn)
c.*239G>A (n.*239G>A)
c.947G>A (p.Ser316Asn)
c.842G>A (p.Ser281Asn)
c.833G>A (p.Ser278Asn)
c.740G>A (p.Ser247Asn)
c.68G>A (p.Ser23Asn)
 ClinVar dbSNP
5g.112815577G>CCA16023318APCc.917G>C (p.Ser306Thr)
n.973G>C
c.*923G>C (n.*923G>C)
c.863G>C (p.Ser288Thr)
c.*239G>C (n.*239G>C)
c.947G>C (p.Ser316Thr)
c.842G>C (p.Ser281Thr)
c.833G>C (p.Ser278Thr)
c.740G>C (p.Ser247Thr)
c.68G>C (p.Ser23Thr)
 dbSNP
5g.112815577G>TCA16023319APCc.917G>T (p.Ser306Ile)
n.973G>T
c.*923G>T (n.*923G>T)
c.863G>T (p.Ser288Ile)
c.*239G>T (n.*239G>T)
c.947G>T (p.Ser316Ile)
c.842G>T (p.Ser281Ile)
c.833G>T (p.Ser278Ile)
c.740G>T (p.Ser247Ile)
c.68G>T (p.Ser23Ile)
 ClinVar dbSNP
5g.112815578T>ACA16023320APCc.918T>A (p.Ser306Arg)
n.974T>A
c.*924T>A (n.*924T>A)
c.864T>A (p.Ser288Arg)
c.*240T>A (n.*240T>A)
c.948T>A (p.Ser316Arg)
c.843T>A (p.Ser281Arg)
c.834T>A (p.Ser278Arg)
c.741T>A (p.Ser247Arg)
c.69T>A (p.Ser23Arg)
 ClinVar dbSNP
5g.112815578T>CCA445755726APCc.918T>C (p.Ser306=)
n.974T>C
c.*924T>C (n.*924T>C)
c.864T>C (p.Ser288=)
c.*240T>C (n.*240T>C)
c.948T>C (p.Ser316=)
c.843T>C (p.Ser281=)
c.834T>C (p.Ser278=)
c.741T>C (p.Ser247=)
c.69T>C (p.Ser23=)
5g.112815578T>GCA015653APCc.918T>G (p.Ser306Arg)
n.974T>G
c.*924T>G (n.*924T>G)
c.864T>G (p.Ser288Arg)
c.*240T>G (n.*240T>G)
c.948T>G (p.Ser316Arg)
c.843T>G (p.Ser281Arg)
c.834T>G (p.Ser278Arg)
c.741T>G (p.Ser247Arg)
c.69T>G (p.Ser23Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815578T=CA1573485012APCc.918T= (p.Ser306=)
n.974T=
c.*924T= (n.*924T=)
c.864T= (p.Ser288=)
c.*240T= (n.*240T=)
c.948T= (p.Ser316=)
c.843T= (p.Ser281=)
c.834T= (p.Ser278=)
c.741T= (p.Ser247=)
c.69T= (p.Ser23=)
5g.112815579delCA445755727APCc.919del (p.His307IlefsTer29)
n.975del
c.*925del (n.*925del)
c.865del (p.His289IlefsTer29)
c.*241del (n.*241del)
c.949del (p.His317IlefsTer29)
c.844del (p.His282IlefsTer29)
c.835del (p.His279IlefsTer29)
c.742del (p.His248IlefsTer29)
c.949del (p.His317IlefsTer?)
c.919del (p.His307IlefsTer?)
c.844del (p.His282IlefsTer?)
c.742del (p.His248IlefsTer?)
c.70del (p.His24IlefsTer29)
 COSMIC
5g.112815579C>ACA16023321APCc.919C>A (p.His307Asn)
n.975C>A
c.*925C>A (n.*925C>A)
c.865C>A (p.His289Asn)
c.*241C>A (n.*241C>A)
c.949C>A (p.His317Asn)
c.844C>A (p.His282Asn)
c.835C>A (p.His279Asn)
c.742C>A (p.His248Asn)
c.70C>A (p.His24Asn)
 gnomAD v4
5g.112815579C=CA1573485022APCc.919C= (p.His307=)
n.975C=
c.*925C= (n.*925C=)
c.865C= (p.His289=)
c.*241C= (n.*241C=)
c.949C= (p.His317=)
c.844C= (p.His282=)
c.835C= (p.His279=)
c.742C= (p.His248=)
c.70C= (p.His24=)
5g.112815579C>GCA16023322APCc.919C>G (p.His307Asp)
n.975C>G
c.*925C>G (n.*925C>G)
c.865C>G (p.His289Asp)
c.*241C>G (n.*241C>G)
c.949C>G (p.His317Asp)
c.844C>G (p.His282Asp)
c.835C>G (p.His279Asp)
c.742C>G (p.His248Asp)
c.70C>G (p.His24Asp)
 dbSNP
5g.112815579C>TCA16023323APCc.919C>T (p.His307Tyr)
n.975C>T
c.*925C>T (n.*925C>T)
c.865C>T (p.His289Tyr)
c.*241C>T (n.*241C>T)
c.949C>T (p.His317Tyr)
c.844C>T (p.His282Tyr)
c.835C>T (p.His279Tyr)
c.742C>T (p.His248Tyr)
c.70C>T (p.His24Tyr)
 ClinVar dbSNP gnomAD v4
5g.112815580A=CA1573485031APCc.920A= (p.His307=)
n.976A=
c.*926A= (n.*926A=)
c.866A= (p.His289=)
c.*242A= (n.*242A=)
c.950A= (p.His317=)
c.845A= (p.His282=)
c.836A= (p.His279=)
c.743A= (p.His248=)
c.71A= (p.His24=)
5g.112815580A>CCA16023324APCc.920A>C (p.His307Pro)
n.976A>C
c.*926A>C (n.*926A>C)
c.866A>C (p.His289Pro)
c.*242A>C (n.*242A>C)
c.950A>C (p.His317Pro)
c.845A>C (p.His282Pro)
c.836A>C (p.His279Pro)
c.743A>C (p.His248Pro)
c.71A>C (p.His24Pro)
5g.112815580A>GCA16023325APCc.920A>G (p.His307Arg)
n.976A>G
c.*926A>G (n.*926A>G)
c.866A>G (p.His289Arg)
c.*242A>G (n.*242A>G)
c.950A>G (p.His317Arg)
c.845A>G (p.His282Arg)
c.836A>G (p.His279Arg)
c.743A>G (p.His248Arg)
c.71A>G (p.His24Arg)
 gnomAD v4
5g.112815580A>TCA353514APCc.920A>T (p.His307Leu)
n.976A>T
c.*926A>T (n.*926A>T)
c.866A>T (p.His289Leu)
c.*242A>T (n.*242A>T)
c.950A>T (p.His317Leu)
c.845A>T (p.His282Leu)
c.836A>T (p.His279Leu)
c.743A>T (p.His248Leu)
c.71A>T (p.His24Leu)
 ClinVar dbSNP gnomAD v4
5g.112815581T>ACA16023326APCc.921T>A (p.His307Gln)
n.977T>A
c.*927T>A (n.*927T>A)
c.867T>A (p.His289Gln)
c.*243T>A (n.*243T>A)
c.951T>A (p.His317Gln)
c.846T>A (p.His282Gln)
c.837T>A (p.His279Gln)
c.744T>A (p.His248Gln)
c.72T>A (p.His24Gln)
 ClinVar dbSNP
5g.112815581T>CCA445755728APCc.921T>C (p.His307=)
n.977T>C
c.*927T>C (n.*927T>C)
c.867T>C (p.His289=)
c.*243T>C (n.*243T>C)
c.951T>C (p.His317=)
c.846T>C (p.His282=)
c.837T>C (p.His279=)
c.744T>C (p.His248=)
c.72T>C (p.His24=)
 COSMIC
5g.112815581T>GCA16023327APCc.921T>G (p.His307Gln)
n.977T>G
c.*927T>G (n.*927T>G)
c.867T>G (p.His289Gln)
c.*243T>G (n.*243T>G)
c.951T>G (p.His317Gln)
c.846T>G (p.His282Gln)
c.837T>G (p.His279Gln)
c.744T>G (p.His248Gln)
c.72T>G (p.His24Gln)
 COSMIC
5g.112815581T=CA1573485041APCc.921T= (p.His307=)
n.977T=
c.*927T= (n.*927T=)
c.867T= (p.His289=)
c.*243T= (n.*243T=)
c.951T= (p.His317=)
c.846T= (p.His282=)
c.837T= (p.His279=)
c.744T= (p.His248=)
c.72T= (p.His24=)
5g.112815582delCA445755729APCc.922del (p.Leu308TrpfsTer28)
n.978del
c.*928del (n.*928del)
c.868del (p.Leu290TrpfsTer28)
c.*244del (n.*244del)
c.952del (p.Leu318TrpfsTer28)
c.847del (p.Leu283TrpfsTer28)
c.838del (p.Leu280TrpfsTer28)
c.745del (p.Leu249TrpfsTer28)
c.952del (p.Leu318TrpfsTer?)
c.922del (p.Leu308TrpfsTer?)
c.847del (p.Leu283TrpfsTer?)
c.745del (p.Leu249TrpfsTer?)
c.73del (p.Leu25TrpfsTer28)
 COSMIC
5g.112815582C>ACA16023328APCc.922C>A (p.Leu308Met)
n.978C>A
c.*928C>A (n.*928C>A)
c.868C>A (p.Leu290Met)
c.*244C>A (n.*244C>A)
c.952C>A (p.Leu318Met)
c.847C>A (p.Leu283Met)
c.838C>A (p.Leu280Met)
c.745C>A (p.Leu249Met)
c.73C>A (p.Leu25Met)
 dbSNP
5g.112815582C=CA1573485047APCc.922C= (p.Leu308=)
n.978C=
c.*928C= (n.*928C=)
c.868C= (p.Leu290=)
c.*244C= (n.*244C=)
c.952C= (p.Leu318=)
c.847C= (p.Leu283=)
c.838C= (p.Leu280=)
c.745C= (p.Leu249=)
c.73C= (p.Leu25=)
5g.112815582C>GCA16023329APCc.922C>G (p.Leu308Val)
n.978C>G
c.*928C>G (n.*928C>G)
c.868C>G (p.Leu290Val)
c.*244C>G (n.*244C>G)
c.952C>G (p.Leu318Val)
c.847C>G (p.Leu283Val)
c.838C>G (p.Leu280Val)
c.745C>G (p.Leu249Val)
c.73C>G (p.Leu25Val)
 dbSNP
5g.112815582C>TCA124967245APCc.922C>T (p.Leu308=)
n.978C>T
c.*928C>T (n.*928C>T)
c.868C>T (p.Leu290=)
c.*244C>T (n.*244C>T)
c.952C>T (p.Leu318=)
c.847C>T (p.Leu283=)
c.838C>T (p.Leu280=)
c.745C>T (p.Leu249=)
c.73C>T (p.Leu25=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112815583T>ACA16023330APCc.923T>A (p.Leu308Gln)
n.979T>A
c.*929T>A (n.*929T>A)
c.869T>A (p.Leu290Gln)
c.*245T>A (n.*245T>A)
c.953T>A (p.Leu318Gln)
c.848T>A (p.Leu283Gln)
c.839T>A (p.Leu280Gln)
c.746T>A (p.Leu249Gln)
c.74T>A (p.Leu25Gln)
 gnomAD v4
5g.112815583T>CCA16023331APCc.923T>C (p.Leu308Pro)
n.979T>C
c.*929T>C (n.*929T>C)
c.869T>C (p.Leu290Pro)
c.*245T>C (n.*245T>C)
c.953T>C (p.Leu318Pro)
c.848T>C (p.Leu283Pro)
c.839T>C (p.Leu280Pro)
c.746T>C (p.Leu249Pro)
c.74T>C (p.Leu25Pro)
 ClinVar
5g.112815583T>GCA16023332APCc.923T>G (p.Leu308Arg)
n.979T>G
c.*929T>G (n.*929T>G)
c.869T>G (p.Leu290Arg)
c.*245T>G (n.*245T>G)
c.953T>G (p.Leu318Arg)
c.848T>G (p.Leu283Arg)
c.839T>G (p.Leu280Arg)
c.746T>G (p.Leu249Arg)
c.74T>G (p.Leu25Arg)
5g.112815583dupCA2582341296APCc.923dup (p.Thr310AsnfsTer17)
n.979dup
c.*929dup (n.*929dup)
c.869dup (p.Thr292AsnfsTer17)
c.*245dup (n.*245dup)
c.953dup (p.Thr320AsnfsTer17)
c.848dup (p.Thr285AsnfsTer17)
c.839dup (p.Thr282AsnfsTer17)
c.746dup (p.Thr251AsnfsTer17)
c.953dup (p.Thr320AsnfsTer8)
c.923dup (p.Thr310AsnfsTer8)
c.848dup (p.Thr285AsnfsTer8)
c.746dup (p.Thr251AsnfsTer8)
c.74dup (p.Thr27AsnfsTer17)
 ClinVar
5g.112815584G>ACA16611620APCc.924G>A (p.Leu308=)
n.980G>A
c.*930G>A (n.*930G>A)
c.870G>A (p.Leu290=)
c.*246G>A (n.*246G>A)
c.954G>A (p.Leu318=)
c.849G>A (p.Leu283=)
c.840G>A (p.Leu280=)
c.747G>A (p.Leu249=)
c.75G>A (p.Leu25=)
 ClinVar dbSNP
5g.112815584G>CCA445755730APCc.924G>C (p.Leu308=)
n.980G>C
c.*930G>C (n.*930G>C)
c.870G>C (p.Leu290=)
c.*246G>C (n.*246G>C)
c.954G>C (p.Leu318=)
c.849G>C (p.Leu283=)
c.840G>C (p.Leu280=)
c.747G>C (p.Leu249=)
c.75G>C (p.Leu25=)
 ClinVar dbSNP
5g.112815584G=CA1573485058APCc.924G= (p.Leu308=)
n.980G=
c.*930G= (n.*930G=)
c.870G= (p.Leu290=)
c.*246G= (n.*246G=)
c.954G= (p.Leu318=)
c.849G= (p.Leu283=)
c.840G= (p.Leu280=)
c.747G= (p.Leu249=)
c.75G= (p.Leu25=)
5g.112815584G>TCA16611569APCc.924G>T (p.Leu308=)
n.980G>T
c.*930G>T (n.*930G>T)
c.870G>T (p.Leu290=)
c.*246G>T (n.*246G>T)
c.954G>T (p.Leu318=)
c.849G>T (p.Leu283=)
c.840G>T (p.Leu280=)
c.747G>T (p.Leu249=)
c.75G>T (p.Leu25=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112815584_112815585delinsACA2695205028APCc.924_925delinsA (p.Gly309GlufsTer27)
n.980_981delinsA
c.*930_*931delinsA (n.*930_*931delinsA)
c.870_871delinsA (p.Gly291GlufsTer27)
c.*246_*247delinsA (n.*246_*247delinsA)
c.954_955delinsA (p.Gly319GlufsTer27)
c.849_850delinsA (p.Gly284GlufsTer27)
c.840_841delinsA (p.Gly281GlufsTer27)
c.747_748delinsA (p.Gly250GlufsTer27)
c.954_955delinsA (p.Gly319GlufsTer?)
c.924_925delinsA (p.Gly309GlufsTer?)
c.849_850delinsA (p.Gly284GlufsTer?)
c.747_748delinsA (p.Gly250GlufsTer?)
c.75_76delinsA (p.Gly26GlufsTer27)
5g.112815586delCA2580072299APCc.926del (p.Gly309GlufsTer27)
n.982del
c.*932del (n.*932del)
c.872del (p.Gly291GlufsTer27)
c.*248del (n.*248del)
c.956del (p.Gly319GlufsTer27)
c.851del (p.Gly284GlufsTer27)
c.842del (p.Gly281GlufsTer27)
c.749del (p.Gly250GlufsTer27)
c.956del (p.Gly319GlufsTer?)
c.926del (p.Gly309GlufsTer?)
c.851del (p.Gly284GlufsTer?)
c.749del (p.Gly250GlufsTer?)
c.77del (p.Gly26GlufsTer27)
 ClinVar
5g.112815585G>ACA16023333APCc.925G>A (p.Gly309Arg)
n.981G>A
c.*931G>A (n.*931G>A)
c.871G>A (p.Gly291Arg)
c.*247G>A (n.*247G>A)
c.955G>A (p.Gly319Arg)
c.850G>A (p.Gly284Arg)
c.841G>A (p.Gly281Arg)
c.748G>A (p.Gly250Arg)
c.76G>A (p.Gly26Arg)
 dbSNP
5g.112815585G>CCA16023334APCc.925G>C (p.Gly309Arg)
n.981G>C
c.*931G>C (n.*931G>C)
c.871G>C (p.Gly291Arg)
c.*247G>C (n.*247G>C)
c.955G>C (p.Gly319Arg)
c.850G>C (p.Gly284Arg)
c.841G>C (p.Gly281Arg)
c.748G>C (p.Gly250Arg)
c.76G>C (p.Gly26Arg)
 dbSNP gnomAD v4
5g.112815585G=CA1573485065APCc.925G= (p.Gly309=)
n.981G=
c.*931G= (n.*931G=)
c.871G= (p.Gly291=)
c.*247G= (n.*247G=)
c.955G= (p.Gly319=)
c.850G= (p.Gly284=)
c.841G= (p.Gly281=)
c.748G= (p.Gly250=)
c.76G= (p.Gly26=)
5g.112815585G>TCA015663APCc.925G>T (p.Gly309Ter)
n.981G>T
c.*931G>T (n.*931G>T)
c.871G>T (p.Gly291Ter)
c.*247G>T (n.*247G>T)
c.955G>T (p.Gly319Ter)
c.850G>T (p.Gly284Ter)
c.841G>T (p.Gly281Ter)
c.748G>T (p.Gly250Ter)
c.76G>T (p.Gly26Ter)
 ClinVar dbSNP COSMIC
5g.112815586G>ACA16023335APCc.926G>A (p.Gly309Glu)
n.982G>A
c.*932G>A (n.*932G>A)
c.872G>A (p.Gly291Glu)
c.*248G>A (n.*248G>A)
c.956G>A (p.Gly319Glu)
c.851G>A (p.Gly284Glu)
c.842G>A (p.Gly281Glu)
c.749G>A (p.Gly250Glu)
c.77G>A (p.Gly26Glu)
 dbSNP
5g.112815586G>CCA16023336APCc.926G>C (p.Gly309Ala)
n.982G>C
c.*932G>C (n.*932G>C)
c.872G>C (p.Gly291Ala)
c.*248G>C (n.*248G>C)
c.956G>C (p.Gly319Ala)
c.851G>C (p.Gly284Ala)
c.842G>C (p.Gly281Ala)
c.749G>C (p.Gly250Ala)
c.77G>C (p.Gly26Ala)
 ClinVar dbSNP
5g.112815586G>TCA16023337APCc.926G>T (p.Gly309Val)
n.982G>T
c.*932G>T (n.*932G>T)
c.872G>T (p.Gly291Val)
c.*248G>T (n.*248G>T)
c.956G>T (p.Gly319Val)
c.851G>T (p.Gly284Val)
c.842G>T (p.Gly281Val)
c.749G>T (p.Gly250Val)
c.77G>T (p.Gly26Val)
5g.112815587A>CCA445755733APCc.927A>C (p.Gly309=)
n.983A>C
c.*933A>C (n.*933A>C)
c.873A>C (p.Gly291=)
c.*249A>C (n.*249A>C)
c.957A>C (p.Gly319=)
c.852A>C (p.Gly284=)
c.843A>C (p.Gly281=)
c.750A>C (p.Gly250=)
c.78A>C (p.Gly26=)
5g.112815587A>GCA445755732APCc.927A>G (p.Gly309=)
n.983A>G
c.*933A>G (n.*933A>G)
c.873A>G (p.Gly291=)
c.*249A>G (n.*249A>G)
c.957A>G (p.Gly319=)
c.852A>G (p.Gly284=)
c.843A>G (p.Gly281=)
c.750A>G (p.Gly250=)
c.78A>G (p.Gly26=)
5g.112815587A>TCA445755731APCc.927A>T (p.Gly309=)
n.983A>T
c.*933A>T (n.*933A>T)
c.873A>T (p.Gly291=)
c.*249A>T (n.*249A>T)
c.957A>T (p.Gly319=)
c.852A>T (p.Gly284=)
c.843A>T (p.Gly281=)
c.750A>T (p.Gly250=)
c.78A>T (p.Gly26=)
 ClinVar
5g.112815588A=CA1573485071APCc.928A= (p.Thr310=)
n.984A=
c.*934A= (n.*934A=)
c.874A= (p.Thr292=)
c.*250A= (n.*250A=)
c.958A= (p.Thr320=)
c.853A= (p.Thr285=)
c.844A= (p.Thr282=)
c.751A= (p.Thr251=)
c.79A= (p.Thr27=)
5g.112815588A>CCA16023338APCc.928A>C (p.Thr310Pro)
n.984A>C
c.*934A>C (n.*934A>C)
c.874A>C (p.Thr292Pro)
c.*250A>C (n.*250A>C)
c.958A>C (p.Thr320Pro)
c.853A>C (p.Thr285Pro)
c.844A>C (p.Thr282Pro)
c.751A>C (p.Thr251Pro)
c.79A>C (p.Thr27Pro)
5g.112815588A>GCA051108APCc.928A>G (p.Thr310Ala)
n.984A>G
c.*934A>G (n.*934A>G)
c.874A>G (p.Thr292Ala)
c.*250A>G (n.*250A>G)
c.958A>G (p.Thr320Ala)
c.853A>G (p.Thr285Ala)
c.844A>G (p.Thr282Ala)
c.751A>G (p.Thr251Ala)
c.79A>G (p.Thr27Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112815588A>TCA16023339APCc.928A>T (p.Thr310Ser)
n.984A>T
c.*934A>T (n.*934A>T)
c.874A>T (p.Thr292Ser)
c.*250A>T (n.*250A>T)
c.958A>T (p.Thr320Ser)
c.853A>T (p.Thr285Ser)
c.844A>T (p.Thr282Ser)
c.751A>T (p.Thr251Ser)
c.79A>T (p.Thr27Ser)
5g.112815589C>ACA16023340APCc.929C>A (p.Thr310Asn)
n.985C>A
c.*935C>A (n.*935C>A)
c.875C>A (p.Thr292Asn)
c.*251C>A (n.*251C>A)
c.959C>A (p.Thr320Asn)
c.854C>A (p.Thr285Asn)
c.845C>A (p.Thr282Asn)
c.752C>A (p.Thr251Asn)
c.80C>A (p.Thr27Asn)
 dbSNP
5g.112815589C=CA1573485073APCc.929C= (p.Thr310=)
n.985C=
c.*935C= (n.*935C=)
c.875C= (p.Thr292=)
c.*251C= (n.*251C=)
c.959C= (p.Thr320=)
c.854C= (p.Thr285=)
c.845C= (p.Thr282=)
c.752C= (p.Thr251=)
c.80C= (p.Thr27=)
5g.112815589C>GCA16023341APCc.929C>G (p.Thr310Ser)
n.985C>G
c.*935C>G (n.*935C>G)
c.875C>G (p.Thr292Ser)
c.*251C>G (n.*251C>G)
c.959C>G (p.Thr320Ser)
c.854C>G (p.Thr285Ser)
c.845C>G (p.Thr282Ser)
c.752C>G (p.Thr251Ser)
c.80C>G (p.Thr27Ser)
 ClinVar dbSNP
5g.112815589C>TCA16023342APCc.929C>T (p.Thr310Ile)
n.985C>T
c.*935C>T (n.*935C>T)
c.875C>T (p.Thr292Ile)
c.*251C>T (n.*251C>T)
c.959C>T (p.Thr320Ile)
c.854C>T (p.Thr285Ile)
c.845C>T (p.Thr282Ile)
c.752C>T (p.Thr251Ile)
c.80C>T (p.Thr27Ile)
 ClinVar dbSNP
5g.112815590C>ACA445755734APCc.930C>A (p.Thr310=)
n.986C>A
c.*936C>A (n.*936C>A)
c.876C>A (p.Thr292=)
c.*252C>A (n.*252C>A)
c.960C>A (p.Thr320=)
c.855C>A (p.Thr285=)
c.846C>A (p.Thr282=)
c.753C>A (p.Thr251=)
c.81C>A (p.Thr27=)
 dbSNP
5g.112815590C>GCA445755736APCc.930C>G (p.Thr310=)
n.986C>G
c.*936C>G (n.*936C>G)
c.876C>G (p.Thr292=)
c.*252C>G (n.*252C>G)
c.960C>G (p.Thr320=)
c.855C>G (p.Thr285=)
c.846C>G (p.Thr282=)
c.753C>G (p.Thr251=)
c.81C>G (p.Thr27=)
 ClinVar dbSNP gnomAD v4
5g.112815590C>TCA445755735APCc.930C>T (p.Thr310=)
n.986C>T
c.*936C>T (n.*936C>T)
c.876C>T (p.Thr292=)
c.*252C>T (n.*252C>T)
c.960C>T (p.Thr320=)
c.855C>T (p.Thr285=)
c.846C>T (p.Thr282=)
c.753C>T (p.Thr251=)
c.81C>T (p.Thr27=)
 gnomAD v4
5g.112815591A=CA1573485078APCc.931A= (p.Lys311=)
n.987A=
c.*937A= (n.*937A=)
c.877A= (p.Lys293=)
c.*253A= (n.*253A=)
c.961A= (p.Lys321=)
c.856A= (p.Lys286=)
c.847A= (p.Lys283=)
c.754A= (p.Lys252=)
c.82A= (p.Lys28=)
5g.112815591A>CCA16023343APCc.931A>C (p.Lys311Gln)
n.987A>C
c.*937A>C (n.*937A>C)
c.877A>C (p.Lys293Gln)
c.*253A>C (n.*253A>C)
c.961A>C (p.Lys321Gln)
c.856A>C (p.Lys286Gln)
c.847A>C (p.Lys283Gln)
c.754A>C (p.Lys252Gln)
c.82A>C (p.Lys28Gln)
5g.112815591A>GCA16023344APCc.931A>G (p.Lys311Glu)
n.987A>G
c.*937A>G (n.*937A>G)
c.877A>G (p.Lys293Glu)
c.*253A>G (n.*253A>G)
c.961A>G (p.Lys321Glu)
c.856A>G (p.Lys286Glu)
c.847A>G (p.Lys283Glu)
c.754A>G (p.Lys252Glu)
c.82A>G (p.Lys28Glu)
5g.112815591A>TCA16023345APCc.931A>T (p.Lys311Ter)
n.987A>T
c.*937A>T (n.*937A>T)
c.877A>T (p.Lys293Ter)
c.*253A>T (n.*253A>T)
c.961A>T (p.Lys321Ter)
c.856A>T (p.Lys286Ter)
c.847A>T (p.Lys283Ter)
c.754A>T (p.Lys252Ter)
c.82A>T (p.Lys28Ter)
 ClinVar dbSNP
5g.112815591_112815595delinsCACA1139770842APCc.931_933+2delinsCA
n.987_989+2delinsCA
c.*937_*939+2delinsCA
c.877_879+2delinsCA
c.*253_*255+2delinsCA
c.961_963+2delinsCA
c.856_858+2delinsCA
c.847_849+2delinsCA
c.754_756+2delinsCA
c.82_84+2delinsCA
 ClinVar
5g.112815592A=CA1573485079APCc.932A= (p.Lys311=)
n.988A=
c.*938A= (n.*938A=)
c.878A= (p.Lys293=)
c.*254A= (n.*254A=)
c.962A= (p.Lys321=)
c.857A= (p.Lys286=)
c.848A= (p.Lys283=)
c.755A= (p.Lys252=)
c.83A= (p.Lys28=)
5g.112815592A>CCA16023346APCc.932A>C (p.Lys311Thr)
n.988A>C
c.*938A>C (n.*938A>C)
c.878A>C (p.Lys293Thr)
c.*254A>C (n.*254A>C)
c.962A>C (p.Lys321Thr)
c.857A>C (p.Lys286Thr)
c.848A>C (p.Lys283Thr)
c.755A>C (p.Lys252Thr)
c.83A>C (p.Lys28Thr)
5g.112815592A>GCA16023347APCc.932A>G (p.Lys311Arg)
n.988A>G
c.*938A>G (n.*938A>G)
c.878A>G (p.Lys293Arg)
c.*254A>G (n.*254A>G)
c.962A>G (p.Lys321Arg)
c.857A>G (p.Lys286Arg)
c.848A>G (p.Lys283Arg)
c.755A>G (p.Lys252Arg)
c.83A>G (p.Lys28Arg)
 ClinVar dbSNP
5g.112815592A>TCA16023348APCc.932A>T (p.Lys311Met)
n.988A>T
c.*938A>T (n.*938A>T)
c.878A>T (p.Lys293Met)
c.*254A>T (n.*254A>T)
c.962A>T (p.Lys321Met)
c.857A>T (p.Lys286Met)
c.848A>T (p.Lys283Met)
c.755A>T (p.Lys252Met)
c.83A>T (p.Lys28Met)
5g.112815593G>ACA445755737APCc.933G>A (p.Lys311=)
n.989G>A
c.*939G>A (n.*939G>A)
c.879G>A (p.Lys293=)
c.*255G>A (n.*255G>A)
c.963G>A (p.Lys321=)
c.858G>A (p.Lys286=)
c.849G>A (p.Lys283=)
c.756G>A (p.Lys252=)
c.84G>A (p.Lys28=)
 ClinVar dbSNP COSMIC
5g.112815593G>CCA16023349APCc.933G>C (p.Lys311Asn)
n.989G>C
c.*939G>C (n.*939G>C)
c.879G>C (p.Lys293Asn)
c.*255G>C (n.*255G>C)
c.963G>C (p.Lys321Asn)
c.858G>C (p.Lys286Asn)
c.849G>C (p.Lys283Asn)
c.756G>C (p.Lys252Asn)
c.84G>C (p.Lys28Asn)
 ClinVar dbSNP
5g.112815593G=CA1573485084APCc.933G= (p.Lys311=)
n.989G=
c.*939G= (n.*939G=)
c.879G= (p.Lys293=)
c.*255G= (n.*255G=)
c.963G= (p.Lys321=)
c.858G= (p.Lys286=)
c.849G= (p.Lys283=)
c.756G= (p.Lys252=)
c.84G= (p.Lys28=)
5g.112815593G>TCA16023350APCc.933G>T (p.Lys311Asn)
n.989G>T
c.*939G>T (n.*939G>T)
c.879G>T (p.Lys293Asn)
c.*255G>T (n.*255G>T)
c.963G>T (p.Lys321Asn)
c.858G>T (p.Lys286Asn)
c.849G>T (p.Lys283Asn)
c.756G>T (p.Lys252Asn)
c.84G>T (p.Lys28Asn)
 dbSNP
5g.112815594delCA658760491APCc.933+1del
n.989+1del
c.*939+1del
c.879+1del
c.*255+1del
c.963+1del
c.858+1del
c.849+1del
c.756+1del
c.84+1del
5g.112815593_112815594insATGTTTCA645562770APCc.933_933+1insATGTTT (n.933_933+1insATGTTT)
n.989_989+1insATGTTT
c.*939_*939+1insATGTTT (n.*939_*939+1insATGTTT)
c.879_879+1insATGTTT (n.879_879+1insATGTTT)
c.*255_*255+1insATGTTT (n.*255_*255+1insATGTTT)
c.963_963+1insATGTTT (n.963_963+1insATGTTT)
c.858_858+1insATGTTT (n.858_858+1insATGTTT)
c.849_849+1insATGTTT (n.849_849+1insATGTTT)
c.756_756+1insATGTTT (n.756_756+1insATGTTT)
c.84_84+1insATGTTT (n.84_84+1insATGTTT)
 COSMIC
5g.112815594G>ACA10578303APCc.933+1G>A (n.933+1G>A)
n.989+1G>A
c.*939+1G>A (n.*939+1G>A)
c.879+1G>A (n.879+1G>A)
c.*255+1G>A (n.*255+1G>A)
c.963+1G>A (n.963+1G>A)
c.858+1G>A (n.858+1G>A)
c.849+1G>A (n.849+1G>A)
c.756+1G>A (n.756+1G>A)
c.84+1G>A (n.84+1G>A)
 ClinVar dbSNP gnomAD v4
5g.112815594G>CCA360619055APCc.933+1G>C (n.933+1G>C)
n.989+1G>C
c.*939+1G>C (n.*939+1G>C)
c.879+1G>C (n.879+1G>C)
c.*255+1G>C (n.*255+1G>C)
c.963+1G>C (n.963+1G>C)
c.858+1G>C (n.858+1G>C)
c.849+1G>C (n.849+1G>C)
c.756+1G>C (n.756+1G>C)
c.84+1G>C (n.84+1G>C)
 dbSNP
5g.112815594G=CA1573485092APCc.933+1G= (n.933+1G=)
n.989+1G=
c.*939+1G= (n.*939+1G=)
c.879+1G= (n.879+1G=)
c.*255+1G= (n.*255+1G=)
c.963+1G= (n.963+1G=)
c.858+1G= (n.858+1G=)
c.849+1G= (n.849+1G=)
c.756+1G= (n.756+1G=)
c.84+1G= (n.84+1G=)
5g.112815594G>TCA360619054APCc.933+1G>T (n.933+1G>T)
n.989+1G>T
c.*939+1G>T (n.*939+1G>T)
c.879+1G>T (n.879+1G>T)
c.*255+1G>T (n.*255+1G>T)
c.963+1G>T (n.963+1G>T)
c.858+1G>T (n.858+1G>T)
c.849+1G>T (n.849+1G>T)
c.756+1G>T (n.756+1G>T)
c.84+1G>T (n.84+1G>T)
5g.112815595T>ACA360619056APCc.933+2T>A (n.933+2T>A)
n.989+2T>A
c.*939+2T>A (n.*939+2T>A)
c.879+2T>A (n.879+2T>A)
c.*255+2T>A (n.*255+2T>A)
c.963+2T>A (n.963+2T>A)
c.858+2T>A (n.858+2T>A)
c.849+2T>A (n.849+2T>A)
c.756+2T>A (n.756+2T>A)
c.84+2T>A (n.84+2T>A)
 ClinVar dbSNP
5g.112815595T>CCA16042089APCc.933+2T>C (n.933+2T>C)
n.989+2T>C
c.*939+2T>C (n.*939+2T>C)
c.879+2T>C (n.879+2T>C)
c.*255+2T>C (n.*255+2T>C)
c.963+2T>C (n.963+2T>C)
c.858+2T>C (n.858+2T>C)
c.849+2T>C (n.849+2T>C)
c.756+2T>C (n.756+2T>C)
c.84+2T>C (n.84+2T>C)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112815595T>GCA360619057APCc.933+2T>G (n.933+2T>G)
n.989+2T>G
c.*939+2T>G (n.*939+2T>G)
c.879+2T>G (n.879+2T>G)
c.*255+2T>G (n.*255+2T>G)
c.963+2T>G (n.963+2T>G)
c.858+2T>G (n.858+2T>G)
c.849+2T>G (n.849+2T>G)
c.756+2T>G (n.756+2T>G)
c.84+2T>G (n.84+2T>G)
 ClinVar dbSNP
5g.112815595T=CA1573485111APCc.933+2T= (n.933+2T=)
n.989+2T=
c.*939+2T= (n.*939+2T=)
c.879+2T= (n.879+2T=)
c.*255+2T= (n.*255+2T=)
c.963+2T= (n.963+2T=)
c.858+2T= (n.858+2T=)
c.849+2T= (n.849+2T=)
c.756+2T= (n.756+2T=)
c.84+2T= (n.84+2T=)
5g.112815596A>GCA2499217445APCc.933+3A>G (n.933+3A>G)
n.989+3A>G
c.*939+3A>G (n.*939+3A>G)
c.879+3A>G (n.879+3A>G)
c.*255+3A>G (n.*255+3A>G)
c.963+3A>G (n.963+3A>G)
c.858+3A>G (n.858+3A>G)
c.849+3A>G (n.849+3A>G)
c.756+3A>G (n.756+3A>G)
c.84+3A>G (n.84+3A>G)
 ClinVar dbSNP
5g.112815597A=CA1573485118APCc.933+4A= (n.933+4A=)
n.989+4A=
c.*939+4A= (n.*939+4A=)
c.879+4A= (n.879+4A=)
c.*255+4A= (n.*255+4A=)
c.963+4A= (n.963+4A=)
c.858+4A= (n.858+4A=)
c.849+4A= (n.849+4A=)
c.756+4A= (n.756+4A=)
c.84+4A= (n.84+4A=)
5g.112815597A>GCA561903416APCc.933+4A>G (n.933+4A>G)
n.989+4A>G
c.*939+4A>G (n.*939+4A>G)
c.879+4A>G (n.879+4A>G)
c.*255+4A>G (n.*255+4A>G)
c.963+4A>G (n.963+4A>G)
c.858+4A>G (n.858+4A>G)
c.849+4A>G (n.849+4A>G)
c.756+4A>G (n.756+4A>G)
c.84+4A>G (n.84+4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112815597A>TCA2709743359APCc.933+4A>T (n.933+4A>T)
n.989+4A>T
c.*939+4A>T (n.*939+4A>T)
c.879+4A>T (n.879+4A>T)
c.*255+4A>T (n.*255+4A>T)
c.963+4A>T (n.963+4A>T)
c.858+4A>T (n.858+4A>T)
c.849+4A>T (n.849+4A>T)
c.756+4A>T (n.756+4A>T)
c.84+4A>T (n.84+4A>T)
 dbSNP
5g.112815598C>ACA051240APCc.933+5C>A (n.933+5C>A)
n.989+5C>A
c.*939+5C>A (n.*939+5C>A)
c.879+5C>A (n.879+5C>A)
c.*255+5C>A (n.*255+5C>A)
c.963+5C>A (n.963+5C>A)
c.858+5C>A (n.858+5C>A)
c.849+5C>A (n.849+5C>A)
c.756+5C>A (n.756+5C>A)
c.84+5C>A (n.84+5C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815598C=CA1573485125APCc.933+5C= (n.933+5C=)
n.989+5C=
c.*939+5C= (n.*939+5C=)
c.879+5C= (n.879+5C=)
c.*255+5C= (n.*255+5C=)
c.963+5C= (n.963+5C=)
c.858+5C= (n.858+5C=)
c.849+5C= (n.849+5C=)
c.756+5C= (n.756+5C=)
c.84+5C= (n.84+5C=)
5g.112815598C>GCA915943470APCc.933+5C>G (n.933+5C>G)
n.989+5C>G
c.*939+5C>G (n.*939+5C>G)
c.879+5C>G (n.879+5C>G)
c.*255+5C>G (n.*255+5C>G)
c.963+5C>G (n.963+5C>G)
c.858+5C>G (n.858+5C>G)
c.849+5C>G (n.849+5C>G)
c.756+5C>G (n.756+5C>G)
c.84+5C>G (n.84+5C>G)
 ClinVar dbSNP
5g.112815598C>TCA051247APCc.933+5C>T (n.933+5C>T)
n.989+5C>T
c.*939+5C>T (n.*939+5C>T)
c.879+5C>T (n.879+5C>T)
c.*255+5C>T (n.*255+5C>T)
c.963+5C>T (n.963+5C>T)
c.858+5C>T (n.858+5C>T)
c.849+5C>T (n.849+5C>T)
c.756+5C>T (n.756+5C>T)
c.84+5C>T (n.84+5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815600_112815601delCA2825001378APCc.933+7_933+8del (n.933+7_933+8del)
n.989+7_989+8del
c.*939+7_*939+8del (n.*939+7_*939+8del)
c.879+7_879+8del (n.879+7_879+8del)
c.*255+7_*255+8del (n.*255+7_*255+8del)
c.963+7_963+8del (n.963+7_963+8del)
c.858+7_858+8del (n.858+7_858+8del)
c.849+7_849+8del (n.849+7_849+8del)
c.756+7_756+8del (n.756+7_756+8del)
c.84+7_84+8del (n.84+7_84+8del)
 ClinVar
5g.112815602_112815604delCA2580612764APCc.933+9_933+11del (n.933+9_933+11del)
n.989+9_989+11del
c.*939+9_*939+11del (n.*939+9_*939+11del)
c.879+9_879+11del (n.879+9_879+11del)
c.*255+9_*255+11del (n.*255+9_*255+11del)
c.963+9_963+11del (n.963+9_963+11del)
c.858+9_858+11del (n.858+9_858+11del)
c.849+9_849+11del (n.849+9_849+11del)
c.756+9_756+11del (n.756+9_756+11del)
c.84+9_84+11del (n.84+9_84+11del)
 ClinVar dbSNP
5g.112815600G>ACA913189876APCc.933+7G>A (n.933+7G>A)
n.989+7G>A
c.*939+7G>A (n.*939+7G>A)
c.879+7G>A (n.879+7G>A)
c.*255+7G>A (n.*255+7G>A)
c.963+7G>A (n.963+7G>A)
c.858+7G>A (n.858+7G>A)
c.849+7G>A (n.849+7G>A)
c.756+7G>A (n.756+7G>A)
c.84+7G>A (n.84+7G>A)
 ClinVar dbSNP
5g.112815600G>CCA051257APCc.933+7G>C (n.933+7G>C)
n.989+7G>C
c.*939+7G>C (n.*939+7G>C)
c.879+7G>C (n.879+7G>C)
c.*255+7G>C (n.*255+7G>C)
c.963+7G>C (n.963+7G>C)
c.858+7G>C (n.858+7G>C)
c.849+7G>C (n.849+7G>C)
c.756+7G>C (n.756+7G>C)
c.84+7G>C (n.84+7G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815600G=CA1573485142APCc.933+7G= (n.933+7G=)
n.989+7G=
c.*939+7G= (n.*939+7G=)
c.879+7G= (n.879+7G=)
c.*255+7G= (n.*255+7G=)
c.963+7G= (n.963+7G=)
c.858+7G= (n.858+7G=)
c.849+7G= (n.849+7G=)
c.756+7G= (n.756+7G=)
c.84+7G= (n.84+7G=)
5g.112815601A>CCA2825001379APCc.933+8A>C (n.933+8A>C)
n.989+8A>C
c.*939+8A>C (n.*939+8A>C)
c.879+8A>C (n.879+8A>C)
c.*255+8A>C (n.*255+8A>C)
c.963+8A>C (n.963+8A>C)
c.858+8A>C (n.858+8A>C)
c.849+8A>C (n.849+8A>C)
c.756+8A>C (n.756+8A>C)
c.84+8A>C (n.84+8A>C)
 ClinVar
5g.112815603G>ACA2709726845APCc.933+10G>A (n.933+10G>A)
n.989+10G>A
c.*939+10G>A (n.*939+10G>A)
c.879+10G>A (n.879+10G>A)
c.*255+10G>A (n.*255+10G>A)
c.963+10G>A (n.963+10G>A)
c.858+10G>A (n.858+10G>A)
c.849+10G>A (n.849+10G>A)
c.756+10G>A (n.756+10G>A)
c.84+10G>A (n.84+10G>A)
 dbSNP
5g.112815603G>CCA051123APCc.933+10G>C (n.933+10G>C)
n.989+10G>C
c.*939+10G>C (n.*939+10G>C)
c.879+10G>C (n.879+10G>C)
c.*255+10G>C (n.*255+10G>C)
c.963+10G>C (n.963+10G>C)
c.858+10G>C (n.858+10G>C)
c.849+10G>C (n.849+10G>C)
c.756+10G>C (n.756+10G>C)
c.84+10G>C (n.84+10G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815603G=CA1573485156APCc.933+10G= (n.933+10G=)
n.989+10G=
c.*939+10G= (n.*939+10G=)
c.879+10G= (n.879+10G=)
c.*255+10G= (n.*255+10G=)
c.963+10G= (n.963+10G=)
c.858+10G= (n.858+10G=)
c.849+10G= (n.849+10G=)
c.756+10G= (n.756+10G=)
c.84+10G= (n.84+10G=)
5g.112815603G>TCA561903422APCc.933+10G>T (n.933+10G>T)
n.989+10G>T
c.*939+10G>T (n.*939+10G>T)
c.879+10G>T (n.879+10G>T)
c.*255+10G>T (n.*255+10G>T)
c.963+10G>T (n.963+10G>T)
c.858+10G>T (n.858+10G>T)
c.849+10G>T (n.849+10G>T)
c.756+10G>T (n.756+10G>T)
c.84+10G>T (n.84+10G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112815604A=CA1573485162APCc.933+11A= (n.933+11A=)
n.989+11A=
c.*939+11A= (n.*939+11A=)
c.879+11A= (n.879+11A=)
c.*255+11A= (n.*255+11A=)
c.963+11A= (n.963+11A=)
c.858+11A= (n.858+11A=)
c.849+11A= (n.849+11A=)
c.756+11A= (n.756+11A=)
c.84+11A= (n.84+11A=)
5g.112815604A>GCA2573138815APCc.933+11A>G (n.933+11A>G)
n.989+11A>G
c.*939+11A>G (n.*939+11A>G)
c.879+11A>G (n.879+11A>G)
c.*255+11A>G (n.*255+11A>G)
c.963+11A>G (n.963+11A>G)
c.858+11A>G (n.858+11A>G)
c.849+11A>G (n.849+11A>G)
c.756+11A>G (n.756+11A>G)
c.84+11A>G (n.84+11A>G)
 ClinVar dbSNP
5g.112815604A>TCA1573485168APCc.933+11A>T (n.933+11A>T)
n.989+11A>T
c.*939+11A>T (n.*939+11A>T)
c.879+11A>T (n.879+11A>T)
c.*255+11A>T (n.*255+11A>T)
c.963+11A>T (n.963+11A>T)
c.858+11A>T (n.858+11A>T)
c.849+11A>T (n.849+11A>T)
c.756+11A>T (n.756+11A>T)
c.84+11A>T (n.84+11A>T)
 ClinVar dbSNP gnomAD v4
5g.112815605T>ACA2709983585APCc.933+12T>A (n.933+12T>A)
n.989+12T>A
c.*939+12T>A (n.*939+12T>A)
c.879+12T>A (n.879+12T>A)
c.*255+12T>A (n.*255+12T>A)
c.963+12T>A (n.963+12T>A)
c.858+12T>A (n.858+12T>A)
c.849+12T>A (n.849+12T>A)
c.756+12T>A (n.756+12T>A)
c.84+12T>A (n.84+12T>A)
 dbSNP
5g.112815606T>ACA2674866384APCc.933+13T>A (n.933+13T>A)
n.989+13T>A
c.*939+13T>A (n.*939+13T>A)
c.879+13T>A (n.879+13T>A)
c.*255+13T>A (n.*255+13T>A)
c.963+13T>A (n.963+13T>A)
c.858+13T>A (n.858+13T>A)
c.849+13T>A (n.849+13T>A)
c.756+13T>A (n.756+13T>A)
c.84+13T>A (n.84+13T>A)
 dbSNP gnomAD v4
5g.112815607A=CA1573485173APCc.933+14A= (n.933+14A=)
n.989+14A=
c.*939+14A= (n.*939+14A=)
c.879+14A= (n.879+14A=)
c.*255+14A= (n.*255+14A=)
c.963+14A= (n.963+14A=)
c.858+14A= (n.858+14A=)
c.849+14A= (n.849+14A=)
c.756+14A= (n.756+14A=)
c.84+14A= (n.84+14A=)
5g.112815607A>CCA2709743360APCc.933+14A>C (n.933+14A>C)
n.989+14A>C
c.*939+14A>C (n.*939+14A>C)
c.879+14A>C (n.879+14A>C)
c.*255+14A>C (n.*255+14A>C)
c.963+14A>C (n.963+14A>C)
c.858+14A>C (n.858+14A>C)
c.849+14A>C (n.849+14A>C)
c.756+14A>C (n.756+14A>C)
c.84+14A>C (n.84+14A>C)
 dbSNP
5g.112815607A>GCA561903423APCc.933+14A>G (n.933+14A>G)
n.989+14A>G
c.*939+14A>G (n.*939+14A>G)
c.879+14A>G (n.879+14A>G)
c.*255+14A>G (n.*255+14A>G)
c.963+14A>G (n.963+14A>G)
c.858+14A>G (n.858+14A>G)
c.849+14A>G (n.849+14A>G)
c.756+14A>G (n.756+14A>G)
c.84+14A>G (n.84+14A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112815607A>TCA2578379730APCc.933+14A>T (n.933+14A>T)
n.989+14A>T
c.*939+14A>T (n.*939+14A>T)
c.879+14A>T (n.879+14A>T)
c.*255+14A>T (n.*255+14A>T)
c.963+14A>T (n.963+14A>T)
c.858+14A>T (n.858+14A>T)
c.849+14A>T (n.849+14A>T)
c.756+14A>T (n.756+14A>T)
c.84+14A>T (n.84+14A>T)
 dbSNP
5g.112815608C>ACA2674866385APCc.933+15C>A (n.933+15C>A)
n.989+15C>A
c.*939+15C>A (n.*939+15C>A)
c.879+15C>A (n.879+15C>A)
c.*255+15C>A (n.*255+15C>A)
c.963+15C>A (n.963+15C>A)
c.858+15C>A (n.858+15C>A)
c.849+15C>A (n.849+15C>A)
c.756+15C>A (n.756+15C>A)
c.84+15C>A (n.84+15C>A)
 ClinVar dbSNP gnomAD v4
5g.112815608C=CA1573485178APCc.933+15C= (n.933+15C=)
n.989+15C=
c.*939+15C= (n.*939+15C=)
c.879+15C= (n.879+15C=)
c.*255+15C= (n.*255+15C=)
c.963+15C= (n.963+15C=)
c.858+15C= (n.858+15C=)
c.849+15C= (n.849+15C=)
c.756+15C= (n.756+15C=)
c.84+15C= (n.84+15C=)
5g.112815608C>GCA2709726846APCc.933+15C>G (n.933+15C>G)
n.989+15C>G
c.*939+15C>G (n.*939+15C>G)
c.879+15C>G (n.879+15C>G)
c.*255+15C>G (n.*255+15C>G)
c.963+15C>G (n.963+15C>G)
c.858+15C>G (n.858+15C>G)
c.849+15C>G (n.849+15C>G)
c.756+15C>G (n.756+15C>G)
c.84+15C>G (n.84+15C>G)
 dbSNP
5g.112815608C>TCA124967293APCc.933+15C>T (n.933+15C>T)
n.989+15C>T
c.*939+15C>T (n.*939+15C>T)
c.879+15C>T (n.879+15C>T)
c.*255+15C>T (n.*255+15C>T)
c.963+15C>T (n.963+15C>T)
c.858+15C>T (n.858+15C>T)
c.849+15C>T (n.849+15C>T)
c.756+15C>T (n.756+15C>T)
c.84+15C>T (n.84+15C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112815609A=CA1573485185APCc.933+16A= (n.933+16A=)
n.989+16A=
c.*939+16A= (n.*939+16A=)
c.879+16A= (n.879+16A=)
c.*255+16A= (n.*255+16A=)
c.963+16A= (n.963+16A=)
c.858+16A= (n.858+16A=)
c.849+16A= (n.849+16A=)
c.756+16A= (n.756+16A=)
c.84+16A= (n.84+16A=)
5g.112815609A>GCA16042090APCc.933+16A>G (n.933+16A>G)
n.989+16A>G
c.*939+16A>G (n.*939+16A>G)
c.879+16A>G (n.879+16A>G)
c.*255+16A>G (n.*255+16A>G)
c.963+16A>G (n.963+16A>G)
c.858+16A>G (n.858+16A>G)
c.849+16A>G (n.849+16A>G)
c.756+16A>G (n.756+16A>G)
c.84+16A>G (n.84+16A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112815609A>TCA2709743362APCc.933+16A>T (n.933+16A>T)
n.989+16A>T
c.*939+16A>T (n.*939+16A>T)
c.879+16A>T (n.879+16A>T)
c.*255+16A>T (n.*255+16A>T)
c.963+16A>T (n.963+16A>T)
c.858+16A>T (n.858+16A>T)
c.849+16A>T (n.849+16A>T)
c.756+16A>T (n.756+16A>T)
c.84+16A>T (n.84+16A>T)
 dbSNP
5g.112815610A=CA1573485197APCc.933+17A= (n.933+17A=)
n.989+17A=
c.*939+17A= (n.*939+17A=)
c.879+17A= (n.879+17A=)
c.*255+17A= (n.*255+17A=)
c.963+17A= (n.963+17A=)
c.858+17A= (n.858+17A=)
c.849+17A= (n.849+17A=)
c.756+17A= (n.756+17A=)
c.84+17A= (n.84+17A=)
5g.112815610A>CCA051134APCc.933+17A>C (n.933+17A>C)
n.989+17A>C
c.*939+17A>C (n.*939+17A>C)
c.879+17A>C (n.879+17A>C)
c.*255+17A>C (n.*255+17A>C)
c.963+17A>C (n.963+17A>C)
c.858+17A>C (n.858+17A>C)
c.849+17A>C (n.849+17A>C)
c.756+17A>C (n.756+17A>C)
c.84+17A>C (n.84+17A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815610A>GCA802059969APCc.933+17A>G (n.933+17A>G)
n.989+17A>G
c.*939+17A>G (n.*939+17A>G)
c.879+17A>G (n.879+17A>G)
c.*255+17A>G (n.*255+17A>G)
c.963+17A>G (n.963+17A>G)
c.858+17A>G (n.858+17A>G)
c.849+17A>G (n.849+17A>G)
c.756+17A>G (n.756+17A>G)
c.84+17A>G (n.84+17A>G)
 dbSNP
5g.112815611A=CA1573485211APCc.933+18A= (n.933+18A=)
n.989+18A=
c.*939+18A= (n.*939+18A=)
c.879+18A= (n.879+18A=)
c.*255+18A= (n.*255+18A=)
c.963+18A= (n.963+18A=)
c.858+18A= (n.858+18A=)
c.849+18A= (n.849+18A=)
c.756+18A= (n.756+18A=)
c.84+18A= (n.84+18A=)
5g.112815611A>CCA2709765957APCc.933+18A>C (n.933+18A>C)
n.989+18A>C
c.*939+18A>C (n.*939+18A>C)
c.879+18A>C (n.879+18A>C)
c.*255+18A>C (n.*255+18A>C)
c.963+18A>C (n.963+18A>C)
c.858+18A>C (n.858+18A>C)
c.849+18A>C (n.849+18A>C)
c.756+18A>C (n.756+18A>C)
c.84+18A>C (n.84+18A>C)
 dbSNP
5g.112815611A>GCA913188139APCc.933+18A>G (n.933+18A>G)
n.989+18A>G
c.*939+18A>G (n.*939+18A>G)
c.879+18A>G (n.879+18A>G)
c.*255+18A>G (n.*255+18A>G)
c.963+18A>G (n.963+18A>G)
c.858+18A>G (n.858+18A>G)
c.849+18A>G (n.849+18A>G)
c.756+18A>G (n.756+18A>G)
c.84+18A>G (n.84+18A>G)
 ClinVar dbSNP
5g.112815611A>TCA2709765958APCc.933+18A>T (n.933+18A>T)
n.989+18A>T
c.*939+18A>T (n.*939+18A>T)
c.879+18A>T (n.879+18A>T)
c.*255+18A>T (n.*255+18A>T)
c.963+18A>T (n.963+18A>T)
c.858+18A>T (n.858+18A>T)
c.849+18A>T (n.849+18A>T)
c.756+18A>T (n.756+18A>T)
c.84+18A>T (n.84+18A>T)
 dbSNP
5g.112815612C>ACA051142APCc.933+19C>A (n.933+19C>A)
n.989+19C>A
c.*939+19C>A (n.*939+19C>A)
c.879+19C>A (n.879+19C>A)
c.*255+19C>A (n.*255+19C>A)
c.963+19C>A (n.963+19C>A)
c.858+19C>A (n.858+19C>A)
c.849+19C>A (n.849+19C>A)
c.756+19C>A (n.756+19C>A)
c.84+19C>A (n.84+19C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815612C=CA1573485218APCc.933+19C= (n.933+19C=)
n.989+19C=
c.*939+19C= (n.*939+19C=)
c.879+19C= (n.879+19C=)
c.*255+19C= (n.*255+19C=)
c.963+19C= (n.963+19C=)
c.858+19C= (n.858+19C=)
c.849+19C= (n.849+19C=)
c.756+19C= (n.756+19C=)
c.84+19C= (n.84+19C=)
5g.112815612C>GCA2709728734APCc.933+19C>G (n.933+19C>G)
n.989+19C>G
c.*939+19C>G (n.*939+19C>G)
c.879+19C>G (n.879+19C>G)
c.*255+19C>G (n.*255+19C>G)
c.963+19C>G (n.963+19C>G)
c.858+19C>G (n.858+19C>G)
c.849+19C>G (n.849+19C>G)
c.756+19C>G (n.756+19C>G)
c.84+19C>G (n.84+19C>G)
 dbSNP
5g.112815612C>TCA2709728735APCc.933+19C>T (n.933+19C>T)
n.989+19C>T
c.*939+19C>T (n.*939+19C>T)
c.879+19C>T (n.879+19C>T)
c.*255+19C>T (n.*255+19C>T)
c.963+19C>T (n.963+19C>T)
c.858+19C>T (n.858+19C>T)
c.849+19C>T (n.849+19C>T)
c.756+19C>T (n.756+19C>T)
c.84+19C>T (n.84+19C>T)
 dbSNP
5g.112815613C>ACA2674866386APCc.933+20C>A (n.933+20C>A)
n.989+20C>A
c.*939+20C>A (n.*939+20C>A)
c.879+20C>A (n.879+20C>A)
c.*255+20C>A (n.*255+20C>A)
c.963+20C>A (n.963+20C>A)
c.858+20C>A (n.858+20C>A)
c.849+20C>A (n.849+20C>A)
c.756+20C>A (n.756+20C>A)
c.84+20C>A (n.84+20C>A)
 dbSNP gnomAD v4
5g.112815613C>GCA2709983884APCc.933+20C>G (n.933+20C>G)
n.989+20C>G
c.*939+20C>G (n.*939+20C>G)
c.879+20C>G (n.879+20C>G)
c.*255+20C>G (n.*255+20C>G)
c.963+20C>G (n.963+20C>G)
c.858+20C>G (n.858+20C>G)
c.849+20C>G (n.849+20C>G)
c.756+20C>G (n.756+20C>G)
c.84+20C>G (n.84+20C>G)
 dbSNP
5g.112815613C>TCA2709983876APCc.933+20C>T (n.933+20C>T)
n.989+20C>T
c.*939+20C>T (n.*939+20C>T)
c.879+20C>T (n.879+20C>T)
c.*255+20C>T (n.*255+20C>T)
c.963+20C>T (n.963+20C>T)
c.858+20C>T (n.858+20C>T)
c.849+20C>T (n.849+20C>T)
c.756+20C>T (n.756+20C>T)
c.84+20C>T (n.84+20C>T)
 dbSNP
5g.112815614C>ACA2674866387APCc.933+21C>A (n.933+21C>A)
n.989+21C>A
c.*939+21C>A (n.*939+21C>A)
c.879+21C>A (n.879+21C>A)
c.*255+21C>A (n.*255+21C>A)
c.963+21C>A (n.963+21C>A)
c.858+21C>A (n.858+21C>A)
c.849+21C>A (n.849+21C>A)
c.756+21C>A (n.756+21C>A)
c.84+21C>A (n.84+21C>A)
 dbSNP gnomAD v4
5g.112815614C>GCA2709984205APCc.933+21C>G (n.933+21C>G)
n.989+21C>G
c.*939+21C>G (n.*939+21C>G)
c.879+21C>G (n.879+21C>G)
c.*255+21C>G (n.*255+21C>G)
c.963+21C>G (n.963+21C>G)
c.858+21C>G (n.858+21C>G)
c.849+21C>G (n.849+21C>G)
c.756+21C>G (n.756+21C>G)
c.84+21C>G (n.84+21C>G)
 dbSNP
5g.112815614C>TCA2674866388APCc.933+21C>T (n.933+21C>T)
n.989+21C>T
c.*939+21C>T (n.*939+21C>T)
c.879+21C>T (n.879+21C>T)
c.*255+21C>T (n.*255+21C>T)
c.963+21C>T (n.963+21C>T)
c.858+21C>T (n.858+21C>T)
c.849+21C>T (n.849+21C>T)
c.756+21C>T (n.756+21C>T)
c.84+21C>T (n.84+21C>T)
 dbSNP gnomAD v4
5g.112815616G>ACA2674866390APCc.933+23G>A (n.933+23G>A)
n.989+23G>A
c.*939+23G>A (n.*939+23G>A)
c.879+23G>A (n.879+23G>A)
c.*255+23G>A (n.*255+23G>A)
c.963+23G>A (n.963+23G>A)
c.858+23G>A (n.858+23G>A)
c.849+23G>A (n.849+23G>A)
c.756+23G>A (n.756+23G>A)
c.84+23G>A (n.84+23G>A)
 dbSNP gnomAD v4
5g.112815616G>CCA2709984240APCc.933+23G>C (n.933+23G>C)
n.989+23G>C
c.*939+23G>C (n.*939+23G>C)
c.879+23G>C (n.879+23G>C)
c.*255+23G>C (n.*255+23G>C)
c.963+23G>C (n.963+23G>C)
c.858+23G>C (n.858+23G>C)
c.849+23G>C (n.849+23G>C)
c.756+23G>C (n.756+23G>C)
c.84+23G>C (n.84+23G>C)
 dbSNP
5g.112815617delCA2674866389APCc.933+24del (n.933+24del)
n.989+24del
c.*939+24del (n.*939+24del)
c.879+24del (n.879+24del)
c.*255+24del (n.*255+24del)
c.963+24del (n.963+24del)
c.858+24del (n.858+24del)
c.849+24del (n.849+24del)
c.756+24del (n.756+24del)
c.84+24del (n.84+24del)
 dbSNP gnomAD v4
5g.112815617G>ACA051152APCc.933+24G>A (n.933+24G>A)
n.989+24G>A
c.*939+24G>A (n.*939+24G>A)
c.879+24G>A (n.879+24G>A)
c.*255+24G>A (n.*255+24G>A)
c.963+24G>A (n.963+24G>A)
c.858+24G>A (n.858+24G>A)
c.849+24G>A (n.849+24G>A)
c.756+24G>A (n.756+24G>A)
c.84+24G>A (n.84+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815617G>CCA051158APCc.933+24G>C (n.933+24G>C)
n.989+24G>C
c.*939+24G>C (n.*939+24G>C)
c.879+24G>C (n.879+24G>C)
c.*255+24G>C (n.*255+24G>C)
c.963+24G>C (n.963+24G>C)
c.858+24G>C (n.858+24G>C)
c.849+24G>C (n.849+24G>C)
c.756+24G>C (n.756+24G>C)
c.84+24G>C (n.84+24G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815617G=CA1573485229APCc.933+24G= (n.933+24G=)
n.989+24G=
c.*939+24G= (n.*939+24G=)
c.879+24G= (n.879+24G=)
c.*255+24G= (n.*255+24G=)
c.963+24G= (n.963+24G=)
c.858+24G= (n.858+24G=)
c.849+24G= (n.849+24G=)
c.756+24G= (n.756+24G=)
c.84+24G= (n.84+24G=)
5g.112815618T>CCA051165APCc.933+25T>C (n.933+25T>C)
n.989+25T>C
c.*939+25T>C (n.*939+25T>C)
c.879+25T>C (n.879+25T>C)
c.*255+25T>C (n.*255+25T>C)
c.963+25T>C (n.963+25T>C)
c.858+25T>C (n.858+25T>C)
c.849+25T>C (n.849+25T>C)
c.756+25T>C (n.756+25T>C)
c.84+25T>C (n.84+25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815618T=CA1573485235APCc.933+25T= (n.933+25T=)
n.989+25T=
c.*939+25T= (n.*939+25T=)
c.879+25T= (n.879+25T=)
c.*255+25T= (n.*255+25T=)
c.963+25T= (n.963+25T=)
c.858+25T= (n.858+25T=)
c.849+25T= (n.849+25T=)
c.756+25T= (n.756+25T=)
c.84+25T= (n.84+25T=)
5g.112815619C>ACA2674866391APCc.933+26C>A (n.933+26C>A)
n.989+26C>A
c.*939+26C>A (n.*939+26C>A)
c.879+26C>A (n.879+26C>A)
c.*255+26C>A (n.*255+26C>A)
c.963+26C>A (n.963+26C>A)
c.858+26C>A (n.858+26C>A)
c.849+26C>A (n.849+26C>A)
c.756+26C>A (n.756+26C>A)
c.84+26C>A (n.84+26C>A)
 dbSNP gnomAD v4
5g.112815619C=CA1573485237APCc.933+26C= (n.933+26C=)
n.989+26C=
c.*939+26C= (n.*939+26C=)
c.879+26C= (n.879+26C=)
c.*255+26C= (n.*255+26C=)
c.963+26C= (n.963+26C=)
c.858+26C= (n.858+26C=)
c.849+26C= (n.849+26C=)
c.756+26C= (n.756+26C=)
c.84+26C= (n.84+26C=)
5g.112815619C>GCA802059974APCc.933+26C>G (n.933+26C>G)
n.989+26C>G
c.*939+26C>G (n.*939+26C>G)
c.879+26C>G (n.879+26C>G)
c.*255+26C>G (n.*255+26C>G)
c.963+26C>G (n.963+26C>G)
c.858+26C>G (n.858+26C>G)
c.849+26C>G (n.849+26C>G)
c.756+26C>G (n.756+26C>G)
c.84+26C>G (n.84+26C>G)
 dbSNP
5g.112815620A>GCA2674866392APCc.933+27A>G (n.933+27A>G)
n.989+27A>G
c.*939+27A>G (n.*939+27A>G)
c.879+27A>G (n.879+27A>G)
c.*255+27A>G (n.*255+27A>G)
c.963+27A>G (n.963+27A>G)
c.858+27A>G (n.858+27A>G)
c.849+27A>G (n.849+27A>G)
c.756+27A>G (n.756+27A>G)
c.84+27A>G (n.84+27A>G)
 gnomAD v4
5g.112815621C>ACA2674866393APCc.933+28C>A (n.933+28C>A)
n.989+28C>A
c.*939+28C>A (n.*939+28C>A)
c.879+28C>A (n.879+28C>A)
c.*255+28C>A (n.*255+28C>A)
c.963+28C>A (n.963+28C>A)
c.858+28C>A (n.858+28C>A)
c.849+28C>A (n.849+28C>A)
c.756+28C>A (n.756+28C>A)
c.84+28C>A (n.84+28C>A)
 dbSNP gnomAD v4
5g.112815621C>GCA2709984883APCc.933+28C>G (n.933+28C>G)
n.989+28C>G
c.*939+28C>G (n.*939+28C>G)
c.879+28C>G (n.879+28C>G)
c.*255+28C>G (n.*255+28C>G)
c.963+28C>G (n.963+28C>G)
c.858+28C>G (n.858+28C>G)
c.849+28C>G (n.849+28C>G)
c.756+28C>G (n.756+28C>G)
c.84+28C>G (n.84+28C>G)
 dbSNP
5g.112815621C>TCA2674866394APCc.933+28C>T (n.933+28C>T)
n.989+28C>T
c.*939+28C>T (n.*939+28C>T)
c.879+28C>T (n.879+28C>T)
c.*255+28C>T (n.*255+28C>T)
c.963+28C>T (n.963+28C>T)
c.858+28C>T (n.858+28C>T)
c.849+28C>T (n.849+28C>T)
c.756+28C>T (n.756+28C>T)
c.84+28C>T (n.84+28C>T)
 dbSNP gnomAD v4
5g.112815622T>ACA2709984977APCc.933+29T>A (n.933+29T>A)
n.989+29T>A
c.*939+29T>A (n.*939+29T>A)
c.879+29T>A (n.879+29T>A)
c.*255+29T>A (n.*255+29T>A)
c.963+29T>A (n.963+29T>A)
c.858+29T>A (n.858+29T>A)
c.849+29T>A (n.849+29T>A)
c.756+29T>A (n.756+29T>A)
c.84+29T>A (n.84+29T>A)
 dbSNP
5g.112815623A=CA1573485241APCc.933+30A= (n.933+30A=)
n.989+30A=
c.*939+30A= (n.*939+30A=)
c.879+30A= (n.879+30A=)
c.*255+30A= (n.*255+30A=)
c.963+30A= (n.963+30A=)
c.858+30A= (n.858+30A=)
c.849+30A= (n.849+30A=)
c.756+30A= (n.756+30A=)
c.84+30A= (n.84+30A=)
5g.112815623A>GCA051173APCc.933+30A>G (n.933+30A>G)
n.989+30A>G
c.*939+30A>G (n.*939+30A>G)
c.879+30A>G (n.879+30A>G)
c.*255+30A>G (n.*255+30A>G)
c.963+30A>G (n.963+30A>G)
c.858+30A>G (n.858+30A>G)
c.849+30A>G (n.849+30A>G)
c.756+30A>G (n.756+30A>G)
c.84+30A>G (n.84+30A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815624A=CA1573485244APCc.933+31A= (n.933+31A=)
n.989+31A=
c.*939+31A= (n.*939+31A=)
c.879+31A= (n.879+31A=)
c.*255+31A= (n.*255+31A=)
c.963+31A= (n.963+31A=)
c.858+31A= (n.858+31A=)
c.849+31A= (n.849+31A=)
c.756+31A= (n.756+31A=)
c.84+31A= (n.84+31A=)
5g.112815624A>GCA051176APCc.933+31A>G (n.933+31A>G)
n.989+31A>G
c.*939+31A>G (n.*939+31A>G)
c.879+31A>G (n.879+31A>G)
c.*255+31A>G (n.*255+31A>G)
c.963+31A>G (n.963+31A>G)
c.858+31A>G (n.858+31A>G)
c.849+31A>G (n.849+31A>G)
c.756+31A>G (n.756+31A>G)
c.84+31A>G (n.84+31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112815625T>ACA2709985032APCc.933+32T>A (n.933+32T>A)
n.989+32T>A
c.*939+32T>A (n.*939+32T>A)
c.879+32T>A (n.879+32T>A)
c.*255+32T>A (n.*255+32T>A)
c.963+32T>A (n.963+32T>A)
c.858+32T>A (n.858+32T>A)
c.849+32T>A (n.849+32T>A)
c.756+32T>A (n.756+32T>A)
c.84+32T>A (n.84+32T>A)
 dbSNP
5g.112815626G>ACA2578379731APCc.933+33G>A (n.933+33G>A)
n.989+33G>A
c.*939+33G>A (n.*939+33G>A)
c.879+33G>A (n.879+33G>A)
c.*255+33G>A (n.*255+33G>A)
c.963+33G>A (n.963+33G>A)
c.858+33G>A (n.858+33G>A)
c.849+33G>A (n.849+33G>A)
c.756+33G>A (n.756+33G>A)
c.84+33G>A (n.84+33G>A)
5g.112815627C>ACA2578379732APCc.933+34C>A (n.933+34C>A)
n.989+34C>A
c.*939+34C>A (n.*939+34C>A)
c.879+34C>A (n.879+34C>A)
c.*255+34C>A (n.*255+34C>A)
c.963+34C>A (n.963+34C>A)
c.858+34C>A (n.858+34C>A)
c.849+34C>A (n.849+34C>A)
c.756+34C>A (n.756+34C>A)
c.84+34C>A (n.84+34C>A)
 dbSNP gnomAD v4
5g.112815627C=CA1573485247APCc.933+34C= (n.933+34C=)
n.989+34C=
c.*939+34C= (n.*939+34C=)
c.879+34C= (n.879+34C=)
c.*255+34C= (n.*255+34C=)
c.963+34C= (n.963+34C=)
c.858+34C= (n.858+34C=)
c.849+34C= (n.849+34C=)
c.756+34C= (n.756+34C=)
c.84+34C= (n.84+34C=)
5g.112815627C>GCA802059979APCc.933+34C>G (n.933+34C>G)
n.989+34C>G
c.*939+34C>G (n.*939+34C>G)
c.879+34C>G (n.879+34C>G)
c.*255+34C>G (n.*255+34C>G)
c.963+34C>G (n.963+34C>G)
c.858+34C>G (n.858+34C>G)
c.849+34C>G (n.849+34C>G)
c.756+34C>G (n.756+34C>G)
c.84+34C>G (n.84+34C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.112815627C>TCA2709754840APCc.933+34C>T (n.933+34C>T)
n.989+34C>T
c.*939+34C>T (n.*939+34C>T)
c.879+34C>T (n.879+34C>T)
c.*255+34C>T (n.*255+34C>T)
c.963+34C>T (n.963+34C>T)
c.858+34C>T (n.858+34C>T)
c.849+34C>T (n.849+34C>T)
c.756+34C>T (n.756+34C>T)
c.84+34C>T (n.84+34C>T)
 dbSNP
5g.112815628C>ACA2709985071APCc.933+35C>A (n.933+35C>A)
n.989+35C>A
c.*939+35C>A (n.*939+35C>A)
c.879+35C>A (n.879+35C>A)
c.*255+35C>A (n.*255+35C>A)
c.963+35C>A (n.963+35C>A)
c.858+35C>A (n.858+35C>A)
c.849+35C>A (n.849+35C>A)
c.756+35C>A (n.756+35C>A)
c.84+35C>A (n.84+35C>A)
 dbSNP
5g.112815628C>GCA2709985080APCc.933+35C>G (n.933+35C>G)
n.989+35C>G
c.*939+35C>G (n.*939+35C>G)
c.879+35C>G (n.879+35C>G)
c.*255+35C>G (n.*255+35C>G)
c.963+35C>G (n.963+35C>G)
c.858+35C>G (n.858+35C>G)
c.849+35C>G (n.849+35C>G)
c.756+35C>G (n.756+35C>G)
c.84+35C>G (n.84+35C>G)
 dbSNP
5g.112815628C>TCA445755738APCc.933+35C>T (n.933+35C>T)
n.989+35C>T
c.*939+35C>T (n.*939+35C>T)
c.879+35C>T (n.879+35C>T)
c.*255+35C>T (n.*255+35C>T)
c.963+35C>T (n.963+35C>T)
c.858+35C>T (n.858+35C>T)
c.849+35C>T (n.849+35C>T)
c.756+35C>T (n.756+35C>T)
c.84+35C>T (n.84+35C>T)
 dbSNP gnomAD v4
5g.112815629A=CA1573485256APCc.933+36A= (n.933+36A=)
n.989+36A=
c.*939+36A= (n.*939+36A=)
c.879+36A= (n.879+36A=)
c.*255+36A= (n.*255+36A=)
c.963+36A= (n.963+36A=)
c.858+36A= (n.858+36A=)
c.849+36A= (n.849+36A=)
c.756+36A= (n.756+36A=)
c.84+36A= (n.84+36A=)
5g.112815629A>CCA2578379733APCc.933+36A>C (n.933+36A>C)
n.989+36A>C
c.*939+36A>C (n.*939+36A>C)
c.879+36A>C (n.879+36A>C)
c.*255+36A>C (n.*255+36A>C)
c.963+36A>C (n.963+36A>C)
c.858+36A>C (n.858+36A>C)
c.849+36A>C (n.849+36A>C)
c.756+36A>C (n.756+36A>C)
c.84+36A>C (n.84+36A>C)
5g.112815629A>GCA051183APCc.933+36A>G (n.933+36A>G)
n.989+36A>G
c.*939+36A>G (n.*939+36A>G)
c.879+36A>G (n.879+36A>G)
c.*255+36A>G (n.*255+36A>G)
c.963+36A>G (n.963+36A>G)
c.858+36A>G (n.858+36A>G)
c.849+36A>G (n.849+36A>G)
c.756+36A>G (n.756+36A>G)
c.84+36A>G (n.84+36A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112815629A>TCA051194APCc.933+36A>T (n.933+36A>T)
n.989+36A>T
c.*939+36A>T (n.*939+36A>T)
c.879+36A>T (n.879+36A>T)
c.*255+36A>T (n.*255+36A>T)
c.963+36A>T (n.963+36A>T)
c.858+36A>T (n.858+36A>T)
c.849+36A>T (n.849+36A>T)
c.756+36A>T (n.756+36A>T)
c.84+36A>T (n.84+36A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112815630T>GCA2674866395APCc.933+37T>G (n.933+37T>G)
n.989+37T>G
c.*939+37T>G (n.*939+37T>G)
c.879+37T>G (n.879+37T>G)
c.*255+37T>G (n.*255+37T>G)
c.963+37T>G (n.963+37T>G)
c.858+37T>G (n.858+37T>G)
c.849+37T>G (n.849+37T>G)
c.756+37T>G (n.756+37T>G)
c.84+37T>G (n.84+37T>G)
 gnomAD v4

Number of alleles fetched