Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.115753175G>ACA348323363DPP10c.952G>A (p.Glu318Lys)
c.931G>A (p.Glu311Lys)
c.964G>A (p.Glu322Lys)
c.802G>A (p.Glu268Lys)
c.940G>A (p.Glu314Lys)
c.700G>A (p.Glu234Lys)
n.67+1560C>T
c.1003G>A (p.Glu335Lys)
c.862G>A (p.Glu288Lys)
c.835G>A (p.Glu279Lys)
c.190G>A (p.Glu64Lys)
c.829G>A (p.Glu277Lys)
gnomAD v4
2g.115753175G>CCA348323365DPP10c.952G>C (p.Glu318Gln)
c.931G>C (p.Glu311Gln)
c.964G>C (p.Glu322Gln)
c.802G>C (p.Glu268Gln)
c.940G>C (p.Glu314Gln)
c.700G>C (p.Glu234Gln)
n.67+1560C>G
c.1003G>C (p.Glu335Gln)
c.862G>C (p.Glu288Gln)
c.835G>C (p.Glu279Gln)
c.190G>C (p.Glu64Gln)
c.829G>C (p.Glu277Gln)
2g.115753175G>TCA348323364DPP10c.952G>T (p.Glu318Ter)
c.931G>T (p.Glu311Ter)
c.964G>T (p.Glu322Ter)
c.802G>T (p.Glu268Ter)
c.940G>T (p.Glu314Ter)
c.700G>T (p.Glu234Ter)
n.67+1560C>A
c.1003G>T (p.Glu335Ter)
c.862G>T (p.Glu288Ter)
c.835G>T (p.Glu279Ter)
c.190G>T (p.Glu64Ter)
c.829G>T (p.Glu277Ter)
COSMIC COSMIC
2g.115753176A>CCA348323366DPP10c.953A>C (p.Glu318Ala)
c.932A>C (p.Glu311Ala)
c.965A>C (p.Glu322Ala)
c.803A>C (p.Glu268Ala)
c.941A>C (p.Glu314Ala)
c.701A>C (p.Glu234Ala)
n.67+1559T>G
c.1004A>C (p.Glu335Ala)
c.863A>C (p.Glu288Ala)
c.836A>C (p.Glu279Ala)
c.191A>C (p.Glu64Ala)
c.830A>C (p.Glu277Ala)
2g.115753176A>GCA348323367DPP10c.953A>G (p.Glu318Gly)
c.932A>G (p.Glu311Gly)
c.965A>G (p.Glu322Gly)
c.803A>G (p.Glu268Gly)
c.941A>G (p.Glu314Gly)
c.701A>G (p.Glu234Gly)
n.67+1559T>C
c.1004A>G (p.Glu335Gly)
c.863A>G (p.Glu288Gly)
c.836A>G (p.Glu279Gly)
c.191A>G (p.Glu64Gly)
c.830A>G (p.Glu277Gly)
2g.115753176A>TCA348323368DPP10c.953A>T (p.Glu318Val)
c.932A>T (p.Glu311Val)
c.965A>T (p.Glu322Val)
c.803A>T (p.Glu268Val)
c.941A>T (p.Glu314Val)
c.701A>T (p.Glu234Val)
n.67+1559T>A
c.1004A>T (p.Glu335Val)
c.863A>T (p.Glu288Val)
c.836A>T (p.Glu279Val)
c.191A>T (p.Glu64Val)
c.830A>T (p.Glu277Val)
2g.115753177A>CCA348323369DPP10c.954A>C (p.Glu318Asp)
c.933A>C (p.Glu311Asp)
c.966A>C (p.Glu322Asp)
c.804A>C (p.Glu268Asp)
c.942A>C (p.Glu314Asp)
c.702A>C (p.Glu234Asp)
n.67+1558T>G
c.1005A>C (p.Glu335Asp)
c.864A>C (p.Glu288Asp)
c.837A>C (p.Glu279Asp)
c.192A>C (p.Glu64Asp)
c.831A>C (p.Glu277Asp)
2g.115753177A>GCA428354166DPP10c.954A>G (p.Glu318=)
c.933A>G (p.Glu311=)
c.966A>G (p.Glu322=)
c.804A>G (p.Glu268=)
c.942A>G (p.Glu314=)
c.702A>G (p.Glu234=)
n.67+1558T>C
c.1005A>G (p.Glu335=)
c.864A>G (p.Glu288=)
c.837A>G (p.Glu279=)
c.192A>G (p.Glu64=)
c.831A>G (p.Glu277=)
2g.115753177A>TCA348323370DPP10c.954A>T (p.Glu318Asp)
c.933A>T (p.Glu311Asp)
c.966A>T (p.Glu322Asp)
c.804A>T (p.Glu268Asp)
c.942A>T (p.Glu314Asp)
c.702A>T (p.Glu234Asp)
n.67+1558T>A
c.1005A>T (p.Glu335Asp)
c.864A>T (p.Glu288Asp)
c.837A>T (p.Glu279Asp)
c.192A>T (p.Glu64Asp)
c.831A>T (p.Glu277Asp)
2g.115753178T>ACA348323371DPP10c.955T>A (p.Tyr319Asn)
c.934T>A (p.Tyr312Asn)
c.967T>A (p.Tyr323Asn)
c.805T>A (p.Tyr269Asn)
c.943T>A (p.Tyr315Asn)
c.703T>A (p.Tyr235Asn)
n.67+1557A>T
c.1006T>A (p.Tyr336Asn)
c.865T>A (p.Tyr289Asn)
c.838T>A (p.Tyr280Asn)
c.193T>A (p.Tyr65Asn)
c.832T>A (p.Tyr278Asn)
2g.115753178T>CCA348323372DPP10c.955T>C (p.Tyr319His)
c.934T>C (p.Tyr312His)
c.967T>C (p.Tyr323His)
c.805T>C (p.Tyr269His)
c.943T>C (p.Tyr315His)
c.703T>C (p.Tyr235His)
n.67+1557A>G
c.1006T>C (p.Tyr336His)
c.865T>C (p.Tyr289His)
c.838T>C (p.Tyr280His)
c.193T>C (p.Tyr65His)
c.832T>C (p.Tyr278His)
gnomAD v4
2g.115753178T>GCA348323373DPP10c.955T>G (p.Tyr319Asp)
c.934T>G (p.Tyr312Asp)
c.967T>G (p.Tyr323Asp)
c.805T>G (p.Tyr269Asp)
c.943T>G (p.Tyr315Asp)
c.703T>G (p.Tyr235Asp)
n.67+1557A>C
c.1006T>G (p.Tyr336Asp)
c.865T>G (p.Tyr289Asp)
c.838T>G (p.Tyr280Asp)
c.193T>G (p.Tyr65Asp)
c.832T>G (p.Tyr278Asp)
2g.115753179A>CCA348323374DPP10c.956A>C (p.Tyr319Ser)
c.935A>C (p.Tyr312Ser)
c.968A>C (p.Tyr323Ser)
c.806A>C (p.Tyr269Ser)
c.944A>C (p.Tyr315Ser)
c.704A>C (p.Tyr235Ser)
n.67+1556T>G
c.1007A>C (p.Tyr336Ser)
c.866A>C (p.Tyr289Ser)
c.839A>C (p.Tyr280Ser)
c.194A>C (p.Tyr65Ser)
c.833A>C (p.Tyr278Ser)
COSMIC COSMIC
2g.115753179A>GCA348323375DPP10c.956A>G (p.Tyr319Cys)
c.935A>G (p.Tyr312Cys)
c.968A>G (p.Tyr323Cys)
c.806A>G (p.Tyr269Cys)
c.944A>G (p.Tyr315Cys)
c.704A>G (p.Tyr235Cys)
n.67+1556T>C
c.1007A>G (p.Tyr336Cys)
c.866A>G (p.Tyr289Cys)
c.839A>G (p.Tyr280Cys)
c.194A>G (p.Tyr65Cys)
c.833A>G (p.Tyr278Cys)
COSMIC COSMIC
2g.115753179A>TCA348323376DPP10c.956A>T (p.Tyr319Phe)
c.935A>T (p.Tyr312Phe)
c.968A>T (p.Tyr323Phe)
c.806A>T (p.Tyr269Phe)
c.944A>T (p.Tyr315Phe)
c.704A>T (p.Tyr235Phe)
n.67+1556T>A
c.1007A>T (p.Tyr336Phe)
c.866A>T (p.Tyr289Phe)
c.839A>T (p.Tyr280Phe)
c.194A>T (p.Tyr65Phe)
c.833A>T (p.Tyr278Phe)
2g.115753180C>ACA348323378DPP10c.957C>A (p.Tyr319Ter)
c.936C>A (p.Tyr312Ter)
c.969C>A (p.Tyr323Ter)
c.807C>A (p.Tyr269Ter)
c.945C>A (p.Tyr315Ter)
c.705C>A (p.Tyr235Ter)
n.67+1555G>T
c.1008C>A (p.Tyr336Ter)
c.867C>A (p.Tyr289Ter)
c.840C>A (p.Tyr280Ter)
c.195C>A (p.Tyr65Ter)
c.834C>A (p.Tyr278Ter)
2g.115753180C>GCA348323377DPP10c.957C>G (p.Tyr319Ter)
c.936C>G (p.Tyr312Ter)
c.969C>G (p.Tyr323Ter)
c.807C>G (p.Tyr269Ter)
c.945C>G (p.Tyr315Ter)
c.705C>G (p.Tyr235Ter)
n.67+1555G>C
c.1008C>G (p.Tyr336Ter)
c.867C>G (p.Tyr289Ter)
c.840C>G (p.Tyr280Ter)
c.195C>G (p.Tyr65Ter)
c.834C>G (p.Tyr278Ter)
2g.115753180C>TCA428354211DPP10c.957C>T (p.Tyr319=)
c.936C>T (p.Tyr312=)
c.969C>T (p.Tyr323=)
c.807C>T (p.Tyr269=)
c.945C>T (p.Tyr315=)
c.705C>T (p.Tyr235=)
n.67+1555G>A
c.1008C>T (p.Tyr336=)
c.867C>T (p.Tyr289=)
c.840C>T (p.Tyr280=)
c.195C>T (p.Tyr65=)
c.834C>T (p.Tyr278=)
2g.115753181delCA2660826734DPP10c.958del (p.Tyr320IlefsTer8)
c.937del (p.Tyr313IlefsTer8)
c.970del (p.Tyr324IlefsTer8)
c.808del (p.Tyr270IlefsTer8)
c.946del (p.Tyr316IlefsTer8)
c.706del (p.Tyr236IlefsTer8)
n.67+1554del
c.1009del (p.Tyr337IlefsTer8)
c.868del (p.Tyr290IlefsTer8)
c.841del (p.Tyr281IlefsTer8)
c.196del (p.Tyr66IlefsTer8)
c.835del (p.Tyr279IlefsTer8)
gnomAD v4
2g.115753181T>ACA348323379DPP10c.958T>A (p.Tyr320Asn)
c.937T>A (p.Tyr313Asn)
c.970T>A (p.Tyr324Asn)
c.808T>A (p.Tyr270Asn)
c.946T>A (p.Tyr316Asn)
c.706T>A (p.Tyr236Asn)
n.67+1554A>T
c.1009T>A (p.Tyr337Asn)
c.868T>A (p.Tyr290Asn)
c.841T>A (p.Tyr281Asn)
c.196T>A (p.Tyr66Asn)
c.835T>A (p.Tyr279Asn)
2g.115753181T>CCA1843056DPP10c.958T>C (p.Tyr320His)
c.937T>C (p.Tyr313His)
c.970T>C (p.Tyr324His)
c.808T>C (p.Tyr270His)
c.946T>C (p.Tyr316His)
c.706T>C (p.Tyr236His)
n.67+1554A>G
c.1009T>C (p.Tyr337His)
c.868T>C (p.Tyr290His)
c.841T>C (p.Tyr281His)
c.196T>C (p.Tyr66His)
c.835T>C (p.Tyr279His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.115753181T>GCA348323380DPP10c.958T>G (p.Tyr320Asp)
c.937T>G (p.Tyr313Asp)
c.970T>G (p.Tyr324Asp)
c.808T>G (p.Tyr270Asp)
c.946T>G (p.Tyr316Asp)
c.706T>G (p.Tyr236Asp)
n.67+1554A>C
c.1009T>G (p.Tyr337Asp)
c.868T>G (p.Tyr290Asp)
c.841T>G (p.Tyr281Asp)
c.196T>G (p.Tyr66Asp)
c.835T>G (p.Tyr279Asp)
2g.115753181T=CA1281312519DPP10c.958T= (p.Tyr320=)
c.937T= (p.Tyr313=)
c.970T= (p.Tyr324=)
c.808T= (p.Tyr270=)
c.946T= (p.Tyr316=)
c.706T= (p.Tyr236=)
n.67+1554A=
c.1009T= (p.Tyr337=)
c.868T= (p.Tyr290=)
c.841T= (p.Tyr281=)
c.196T= (p.Tyr66=)
c.835T= (p.Tyr279=)
2g.115753182A=CA1281312520DPP10c.959A= (p.Tyr320=)
c.938A= (p.Tyr313=)
c.971A= (p.Tyr324=)
c.809A= (p.Tyr270=)
c.947A= (p.Tyr316=)
c.707A= (p.Tyr236=)
n.67+1553T=
c.1010A= (p.Tyr337=)
c.869A= (p.Tyr290=)
c.842A= (p.Tyr281=)
c.197A= (p.Tyr66=)
c.836A= (p.Tyr279=)
2g.115753182A>CCA348323381DPP10c.959A>C (p.Tyr320Ser)
c.938A>C (p.Tyr313Ser)
c.971A>C (p.Tyr324Ser)
c.809A>C (p.Tyr270Ser)
c.947A>C (p.Tyr316Ser)
c.707A>C (p.Tyr236Ser)
n.67+1553T>G
c.1010A>C (p.Tyr337Ser)
c.869A>C (p.Tyr290Ser)
c.842A>C (p.Tyr281Ser)
c.197A>C (p.Tyr66Ser)
c.836A>C (p.Tyr279Ser)
2g.115753182A>GCA348323382DPP10c.959A>G (p.Tyr320Cys)
c.938A>G (p.Tyr313Cys)
c.971A>G (p.Tyr324Cys)
c.809A>G (p.Tyr270Cys)
c.947A>G (p.Tyr316Cys)
c.707A>G (p.Tyr236Cys)
n.67+1553T>C
c.1010A>G (p.Tyr337Cys)
c.869A>G (p.Tyr290Cys)
c.842A>G (p.Tyr281Cys)
c.197A>G (p.Tyr66Cys)
c.836A>G (p.Tyr279Cys)
dbSNP gnomAD v2 gnomAD v4
2g.115753182A>TCA348323383DPP10c.959A>T (p.Tyr320Phe)
c.938A>T (p.Tyr313Phe)
c.971A>T (p.Tyr324Phe)
c.809A>T (p.Tyr270Phe)
c.947A>T (p.Tyr316Phe)
c.707A>T (p.Tyr236Phe)
n.67+1553T>A
c.1010A>T (p.Tyr337Phe)
c.869A>T (p.Tyr290Phe)
c.842A>T (p.Tyr281Phe)
c.197A>T (p.Tyr66Phe)
c.836A>T (p.Tyr279Phe)
2g.115753183T>ACA348323384DPP10c.960T>A (p.Tyr320Ter)
c.939T>A (p.Tyr313Ter)
c.972T>A (p.Tyr324Ter)
c.810T>A (p.Tyr270Ter)
c.948T>A (p.Tyr316Ter)
c.708T>A (p.Tyr236Ter)
n.67+1552A>T
c.1011T>A (p.Tyr337Ter)
c.870T>A (p.Tyr290Ter)
c.843T>A (p.Tyr281Ter)
c.198T>A (p.Tyr66Ter)
c.837T>A (p.Tyr279Ter)
2g.115753183T>CCA428354231DPP10c.960T>C (p.Tyr320=)
c.939T>C (p.Tyr313=)
c.972T>C (p.Tyr324=)
c.810T>C (p.Tyr270=)
c.948T>C (p.Tyr316=)
c.708T>C (p.Tyr236=)
n.67+1552A>G
c.1011T>C (p.Tyr337=)
c.870T>C (p.Tyr290=)
c.843T>C (p.Tyr281=)
c.198T>C (p.Tyr66=)
c.837T>C (p.Tyr279=)
dbSNP gnomAD v2 gnomAD v4
2g.115753183T>GCA348323385DPP10c.960T>G (p.Tyr320Ter)
c.939T>G (p.Tyr313Ter)
c.972T>G (p.Tyr324Ter)
c.810T>G (p.Tyr270Ter)
c.948T>G (p.Tyr316Ter)
c.708T>G (p.Tyr236Ter)
n.67+1552A>C
c.1011T>G (p.Tyr337Ter)
c.870T>G (p.Tyr290Ter)
c.843T>G (p.Tyr281Ter)
c.198T>G (p.Tyr66Ter)
c.837T>G (p.Tyr279Ter)
2g.115753183T=CA1281312521DPP10c.960T= (p.Tyr320=)
c.939T= (p.Tyr313=)
c.972T= (p.Tyr324=)
c.810T= (p.Tyr270=)
c.948T= (p.Tyr316=)
c.708T= (p.Tyr236=)
n.67+1552A=
c.1011T= (p.Tyr337=)
c.870T= (p.Tyr290=)
c.843T= (p.Tyr281=)
c.198T= (p.Tyr66=)
c.837T= (p.Tyr279=)
2g.115753184A>CCA348323386DPP10c.961A>C (p.Ile321Leu)
c.940A>C (p.Ile314Leu)
c.973A>C (p.Ile325Leu)
c.811A>C (p.Ile271Leu)
c.949A>C (p.Ile317Leu)
c.709A>C (p.Ile237Leu)
n.67+1551T>G
c.1012A>C (p.Ile338Leu)
c.871A>C (p.Ile291Leu)
c.844A>C (p.Ile282Leu)
c.199A>C (p.Ile67Leu)
c.838A>C (p.Ile280Leu)
2g.115753184A>GCA348323387DPP10c.961A>G (p.Ile321Val)
c.940A>G (p.Ile314Val)
c.973A>G (p.Ile325Val)
c.811A>G (p.Ile271Val)
c.949A>G (p.Ile317Val)
c.709A>G (p.Ile237Val)
n.67+1551T>C
c.1012A>G (p.Ile338Val)
c.871A>G (p.Ile291Val)
c.844A>G (p.Ile282Val)
c.199A>G (p.Ile67Val)
c.838A>G (p.Ile280Val)
2g.115753184A>TCA348323388DPP10c.961A>T (p.Ile321Phe)
c.940A>T (p.Ile314Phe)
c.973A>T (p.Ile325Phe)
c.811A>T (p.Ile271Phe)
c.949A>T (p.Ile317Phe)
c.709A>T (p.Ile237Phe)
n.67+1551T>A
c.1012A>T (p.Ile338Phe)
c.871A>T (p.Ile291Phe)
c.844A>T (p.Ile282Phe)
c.199A>T (p.Ile67Phe)
c.838A>T (p.Ile280Phe)
2g.115753185T>ACA348323390DPP10c.962T>A (p.Ile321Asn)
c.941T>A (p.Ile314Asn)
c.974T>A (p.Ile325Asn)
c.812T>A (p.Ile271Asn)
c.950T>A (p.Ile317Asn)
c.710T>A (p.Ile237Asn)
n.67+1550A>T
c.1013T>A (p.Ile338Asn)
c.872T>A (p.Ile291Asn)
c.845T>A (p.Ile282Asn)
c.200T>A (p.Ile67Asn)
c.839T>A (p.Ile280Asn)
COSMIC COSMIC
2g.115753185T>CCA348323391DPP10c.962T>C (p.Ile321Thr)
c.941T>C (p.Ile314Thr)
c.974T>C (p.Ile325Thr)
c.812T>C (p.Ile271Thr)
c.950T>C (p.Ile317Thr)
c.710T>C (p.Ile237Thr)
n.67+1550A>G
c.1013T>C (p.Ile338Thr)
c.872T>C (p.Ile291Thr)
c.845T>C (p.Ile282Thr)
c.200T>C (p.Ile67Thr)
c.839T>C (p.Ile280Thr)
2g.115753185T>GCA348323389DPP10c.962T>G (p.Ile321Ser)
c.941T>G (p.Ile314Ser)
c.974T>G (p.Ile325Ser)
c.812T>G (p.Ile271Ser)
c.950T>G (p.Ile317Ser)
c.710T>G (p.Ile237Ser)
n.67+1550A>C
c.1013T>G (p.Ile338Ser)
c.872T>G (p.Ile291Ser)
c.845T>G (p.Ile282Ser)
c.200T>G (p.Ile67Ser)
c.839T>G (p.Ile280Ser)
2g.115753186C>ACA428354260DPP10c.963C>A (p.Ile321=)
c.942C>A (p.Ile314=)
c.975C>A (p.Ile325=)
c.813C>A (p.Ile271=)
c.951C>A (p.Ile317=)
c.711C>A (p.Ile237=)
n.67+1549G>T
c.1014C>A (p.Ile338=)
c.873C>A (p.Ile291=)
c.846C>A (p.Ile282=)
c.201C>A (p.Ile67=)
c.840C>A (p.Ile280=)
2g.115753186C=CA1281312522DPP10c.963C= (p.Ile321=)
c.942C= (p.Ile314=)
c.975C= (p.Ile325=)
c.813C= (p.Ile271=)
c.951C= (p.Ile317=)
c.711C= (p.Ile237=)
n.67+1549G=
c.1014C= (p.Ile338=)
c.873C= (p.Ile291=)
c.846C= (p.Ile282=)
c.201C= (p.Ile67=)
c.840C= (p.Ile280=)
2g.115753186C>GCA348323392DPP10c.963C>G (p.Ile321Met)
c.942C>G (p.Ile314Met)
c.975C>G (p.Ile325Met)
c.813C>G (p.Ile271Met)
c.951C>G (p.Ile317Met)
c.711C>G (p.Ile237Met)
n.67+1549G>C
c.1014C>G (p.Ile338Met)
c.873C>G (p.Ile291Met)
c.846C>G (p.Ile282Met)
c.201C>G (p.Ile67Met)
c.840C>G (p.Ile280Met)
2g.115753186C>TCA428354265DPP10c.963C>T (p.Ile321=)
c.942C>T (p.Ile314=)
c.975C>T (p.Ile325=)
c.813C>T (p.Ile271=)
c.951C>T (p.Ile317=)
c.711C>T (p.Ile237=)
n.67+1549G>A
c.1014C>T (p.Ile338=)
c.873C>T (p.Ile291=)
c.846C>T (p.Ile282=)
c.201C>T (p.Ile67=)
c.840C>T (p.Ile280=)
dbSNP gnomAD v2 gnomAD v4
2g.115753187A>CCA348323393DPP10c.964A>C (p.Thr322Pro)
c.943A>C (p.Thr315Pro)
c.976A>C (p.Thr326Pro)
c.814A>C (p.Thr272Pro)
c.952A>C (p.Thr318Pro)
c.712A>C (p.Thr238Pro)
n.67+1548T>G
c.1015A>C (p.Thr339Pro)
c.874A>C (p.Thr292Pro)
c.847A>C (p.Thr283Pro)
c.202A>C (p.Thr68Pro)
c.841A>C (p.Thr281Pro)
2g.115753187A>GCA348323394DPP10c.964A>G (p.Thr322Ala)
c.943A>G (p.Thr315Ala)
c.976A>G (p.Thr326Ala)
c.814A>G (p.Thr272Ala)
c.952A>G (p.Thr318Ala)
c.712A>G (p.Thr238Ala)
n.67+1548T>C
c.1015A>G (p.Thr339Ala)
c.874A>G (p.Thr292Ala)
c.847A>G (p.Thr283Ala)
c.202A>G (p.Thr68Ala)
c.841A>G (p.Thr281Ala)
2g.115753187A>TCA348323395DPP10c.964A>T (p.Thr322Ser)
c.943A>T (p.Thr315Ser)
c.976A>T (p.Thr326Ser)
c.814A>T (p.Thr272Ser)
c.952A>T (p.Thr318Ser)
c.712A>T (p.Thr238Ser)
n.67+1548T>A
c.1015A>T (p.Thr339Ser)
c.874A>T (p.Thr292Ser)
c.847A>T (p.Thr283Ser)
c.202A>T (p.Thr68Ser)
c.841A>T (p.Thr281Ser)
2g.115753188C>ACA348323398DPP10c.965C>A (p.Thr322Asn)
c.944C>A (p.Thr315Asn)
c.977C>A (p.Thr326Asn)
c.815C>A (p.Thr272Asn)
c.953C>A (p.Thr318Asn)
c.713C>A (p.Thr238Asn)
n.67+1547G>T
c.1016C>A (p.Thr339Asn)
c.875C>A (p.Thr292Asn)
c.848C>A (p.Thr283Asn)
c.203C>A (p.Thr68Asn)
c.842C>A (p.Thr281Asn)
2g.115753188C>GCA348323397DPP10c.965C>G (p.Thr322Ser)
c.944C>G (p.Thr315Ser)
c.977C>G (p.Thr326Ser)
c.815C>G (p.Thr272Ser)
c.953C>G (p.Thr318Ser)
c.713C>G (p.Thr238Ser)
n.67+1547G>C
c.1016C>G (p.Thr339Ser)
c.875C>G (p.Thr292Ser)
c.848C>G (p.Thr283Ser)
c.203C>G (p.Thr68Ser)
c.842C>G (p.Thr281Ser)
2g.115753188C>TCA348323396DPP10c.965C>T (p.Thr322Ile)
c.944C>T (p.Thr315Ile)
c.977C>T (p.Thr326Ile)
c.815C>T (p.Thr272Ile)
c.953C>T (p.Thr318Ile)
c.713C>T (p.Thr238Ile)
n.67+1547G>A
c.1016C>T (p.Thr339Ile)
c.875C>T (p.Thr292Ile)
c.848C>T (p.Thr283Ile)
c.203C>T (p.Thr68Ile)
c.842C>T (p.Thr281Ile)
2g.115753189T>ACA428354284DPP10c.966T>A (p.Thr322=)
c.945T>A (p.Thr315=)
c.978T>A (p.Thr326=)
c.816T>A (p.Thr272=)
c.954T>A (p.Thr318=)
c.714T>A (p.Thr238=)
n.67+1546A>T
c.1017T>A (p.Thr339=)
c.876T>A (p.Thr292=)
c.849T>A (p.Thr283=)
c.204T>A (p.Thr68=)
c.843T>A (p.Thr281=)
2g.115753189T>CCA428354287DPP10c.966T>C (p.Thr322=)
c.945T>C (p.Thr315=)
c.978T>C (p.Thr326=)
c.816T>C (p.Thr272=)
c.954T>C (p.Thr318=)
c.714T>C (p.Thr238=)
n.67+1546A>G
c.1017T>C (p.Thr339=)
c.876T>C (p.Thr292=)
c.849T>C (p.Thr283=)
c.204T>C (p.Thr68=)
c.843T>C (p.Thr281=)
gnomAD v4
2g.115753189T>GCA428354281DPP10c.966T>G (p.Thr322=)
c.945T>G (p.Thr315=)
c.978T>G (p.Thr326=)
c.816T>G (p.Thr272=)
c.954T>G (p.Thr318=)
c.714T>G (p.Thr238=)
n.67+1546A>C
c.1017T>G (p.Thr339=)
c.876T>G (p.Thr292=)
c.849T>G (p.Thr283=)
c.204T>G (p.Thr68=)
c.843T>G (p.Thr281=)
2g.115753190A=CA1281312523DPP10c.967A= (p.Met323=)
c.946A= (p.Met316=)
c.979A= (p.Met327=)
c.817A= (p.Met273=)
c.955A= (p.Met319=)
c.715A= (p.Met239=)
n.67+1545T=
c.1018A= (p.Met340=)
c.877A= (p.Met293=)
c.850A= (p.Met284=)
c.205A= (p.Met69=)
c.844A= (p.Met282=)
2g.115753190A>CCA348323399DPP10c.967A>C (p.Met323Leu)
c.946A>C (p.Met316Leu)
c.979A>C (p.Met327Leu)
c.817A>C (p.Met273Leu)
c.955A>C (p.Met319Leu)
c.715A>C (p.Met239Leu)
n.67+1545T>G
c.1018A>C (p.Met340Leu)
c.877A>C (p.Met293Leu)
c.850A>C (p.Met284Leu)
c.205A>C (p.Met69Leu)
c.844A>C (p.Met282Leu)
gnomAD v4
2g.115753190A>GCA1843057DPP10c.967A>G (p.Met323Val)
c.946A>G (p.Met316Val)
c.979A>G (p.Met327Val)
c.817A>G (p.Met273Val)
c.955A>G (p.Met319Val)
c.715A>G (p.Met239Val)
n.67+1545T>C
c.1018A>G (p.Met340Val)
c.877A>G (p.Met293Val)
c.850A>G (p.Met284Val)
c.205A>G (p.Met69Val)
c.844A>G (p.Met282Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753190A>TCA348323400DPP10c.967A>T (p.Met323Leu)
c.946A>T (p.Met316Leu)
c.979A>T (p.Met327Leu)
c.817A>T (p.Met273Leu)
c.955A>T (p.Met319Leu)
c.715A>T (p.Met239Leu)
n.67+1545T>A
c.1018A>T (p.Met340Leu)
c.877A>T (p.Met293Leu)
c.850A>T (p.Met284Leu)
c.205A>T (p.Met69Leu)
c.844A>T (p.Met282Leu)
2g.115753191T>ACA348323401DPP10c.968T>A (p.Met323Lys)
c.947T>A (p.Met316Lys)
c.980T>A (p.Met327Lys)
c.818T>A (p.Met273Lys)
c.956T>A (p.Met319Lys)
c.716T>A (p.Met239Lys)
n.67+1544A>T
c.1019T>A (p.Met340Lys)
c.878T>A (p.Met293Lys)
c.851T>A (p.Met284Lys)
c.206T>A (p.Met69Lys)
c.845T>A (p.Met282Lys)
gnomAD v4
2g.115753191T>CCA348323402DPP10c.968T>C (p.Met323Thr)
c.947T>C (p.Met316Thr)
c.980T>C (p.Met327Thr)
c.818T>C (p.Met273Thr)
c.956T>C (p.Met319Thr)
c.716T>C (p.Met239Thr)
n.67+1544A>G
c.1019T>C (p.Met340Thr)
c.878T>C (p.Met293Thr)
c.851T>C (p.Met284Thr)
c.206T>C (p.Met69Thr)
c.845T>C (p.Met282Thr)
dbSNP gnomAD v4
2g.115753191T>GCA348323403DPP10c.968T>G (p.Met323Arg)
c.947T>G (p.Met316Arg)
c.980T>G (p.Met327Arg)
c.818T>G (p.Met273Arg)
c.956T>G (p.Met319Arg)
c.716T>G (p.Met239Arg)
n.67+1544A>C
c.1019T>G (p.Met340Arg)
c.878T>G (p.Met293Arg)
c.851T>G (p.Met284Arg)
c.206T>G (p.Met69Arg)
c.845T>G (p.Met282Arg)
2g.115753192G>ACA348323404DPP10c.969G>A (p.Met323Ile)
c.948G>A (p.Met316Ile)
c.981G>A (p.Met327Ile)
c.819G>A (p.Met273Ile)
c.957G>A (p.Met319Ile)
c.717G>A (p.Met239Ile)
n.67+1543C>T
c.1020G>A (p.Met340Ile)
c.879G>A (p.Met293Ile)
c.852G>A (p.Met284Ile)
c.207G>A (p.Met69Ile)
c.846G>A (p.Met282Ile)
gnomAD v4
2g.115753192G>CCA348323406DPP10c.969G>C (p.Met323Ile)
c.948G>C (p.Met316Ile)
c.981G>C (p.Met327Ile)
c.819G>C (p.Met273Ile)
c.957G>C (p.Met319Ile)
c.717G>C (p.Met239Ile)
n.67+1543C>G
c.1020G>C (p.Met340Ile)
c.879G>C (p.Met293Ile)
c.852G>C (p.Met284Ile)
c.207G>C (p.Met69Ile)
c.846G>C (p.Met282Ile)
2g.115753192G>TCA348323405DPP10c.969G>T (p.Met323Ile)
c.948G>T (p.Met316Ile)
c.981G>T (p.Met327Ile)
c.819G>T (p.Met273Ile)
c.957G>T (p.Met319Ile)
c.717G>T (p.Met239Ile)
n.67+1543C>A
c.1020G>T (p.Met340Ile)
c.879G>T (p.Met293Ile)
c.852G>T (p.Met284Ile)
c.207G>T (p.Met69Ile)
c.846G>T (p.Met282Ile)
2g.115753193G>ACA348323407DPP10c.970G>A (p.Val324Ile)
c.949G>A (p.Val317Ile)
c.982G>A (p.Val328Ile)
c.820G>A (p.Val274Ile)
c.958G>A (p.Val320Ile)
c.718G>A (p.Val240Ile)
n.67+1542C>T
c.1021G>A (p.Val341Ile)
c.880G>A (p.Val294Ile)
c.853G>A (p.Val285Ile)
c.208G>A (p.Val70Ile)
c.847G>A (p.Val283Ile)
2g.115753193G>CCA348323408DPP10c.970G>C (p.Val324Leu)
c.949G>C (p.Val317Leu)
c.982G>C (p.Val328Leu)
c.820G>C (p.Val274Leu)
c.958G>C (p.Val320Leu)
c.718G>C (p.Val240Leu)
n.67+1542C>G
c.1021G>C (p.Val341Leu)
c.880G>C (p.Val294Leu)
c.853G>C (p.Val285Leu)
c.208G>C (p.Val70Leu)
c.847G>C (p.Val283Leu)
2g.115753193G>TCA348323409DPP10c.970G>T (p.Val324Phe)
c.949G>T (p.Val317Phe)
c.982G>T (p.Val328Phe)
c.820G>T (p.Val274Phe)
c.958G>T (p.Val320Phe)
c.718G>T (p.Val240Phe)
n.67+1542C>A
c.1021G>T (p.Val341Phe)
c.880G>T (p.Val294Phe)
c.853G>T (p.Val285Phe)
c.208G>T (p.Val70Phe)
c.847G>T (p.Val283Phe)
2g.115753194T>ACA348323410DPP10c.971T>A (p.Val324Asp)
c.950T>A (p.Val317Asp)
c.983T>A (p.Val328Asp)
c.821T>A (p.Val274Asp)
c.959T>A (p.Val320Asp)
c.719T>A (p.Val240Asp)
n.67+1541A>T
c.1022T>A (p.Val341Asp)
c.881T>A (p.Val294Asp)
c.854T>A (p.Val285Asp)
c.209T>A (p.Val70Asp)
c.848T>A (p.Val283Asp)
2g.115753194T>CCA348323411DPP10c.971T>C (p.Val324Ala)
c.950T>C (p.Val317Ala)
c.983T>C (p.Val328Ala)
c.821T>C (p.Val274Ala)
c.959T>C (p.Val320Ala)
c.719T>C (p.Val240Ala)
n.67+1541A>G
c.1022T>C (p.Val341Ala)
c.881T>C (p.Val294Ala)
c.854T>C (p.Val285Ala)
c.209T>C (p.Val70Ala)
c.848T>C (p.Val283Ala)
2g.115753194T>GCA348323412DPP10c.971T>G (p.Val324Gly)
c.950T>G (p.Val317Gly)
c.983T>G (p.Val328Gly)
c.821T>G (p.Val274Gly)
c.959T>G (p.Val320Gly)
c.719T>G (p.Val240Gly)
n.67+1541A>C
c.1022T>G (p.Val341Gly)
c.881T>G (p.Val294Gly)
c.854T>G (p.Val285Gly)
c.209T>G (p.Val70Gly)
c.848T>G (p.Val283Gly)
2g.115753195T>ACA428354371DPP10c.972T>A (p.Val324=)
c.951T>A (p.Val317=)
c.984T>A (p.Val328=)
c.822T>A (p.Val274=)
c.960T>A (p.Val320=)
c.720T>A (p.Val240=)
n.67+1540A>T
c.1023T>A (p.Val341=)
c.882T>A (p.Val294=)
c.855T>A (p.Val285=)
c.210T>A (p.Val70=)
c.849T>A (p.Val283=)
2g.115753195T>CCA428354375DPP10c.972T>C (p.Val324=)
c.951T>C (p.Val317=)
c.984T>C (p.Val328=)
c.822T>C (p.Val274=)
c.960T>C (p.Val320=)
c.720T>C (p.Val240=)
n.67+1540A>G
c.1023T>C (p.Val341=)
c.882T>C (p.Val294=)
c.855T>C (p.Val285=)
c.210T>C (p.Val70=)
c.849T>C (p.Val283=)
2g.115753195T>GCA428354378DPP10c.972T>G (p.Val324=)
c.951T>G (p.Val317=)
c.984T>G (p.Val328=)
c.822T>G (p.Val274=)
c.960T>G (p.Val320=)
c.720T>G (p.Val240=)
n.67+1540A>C
c.1023T>G (p.Val341=)
c.882T>G (p.Val294=)
c.855T>G (p.Val285=)
c.210T>G (p.Val70=)
c.849T>G (p.Val283=)
2g.115753196A>CCA348323413DPP10c.973A>C (p.Lys325Gln)
c.952A>C (p.Lys318Gln)
c.985A>C (p.Lys329Gln)
c.823A>C (p.Lys275Gln)
c.961A>C (p.Lys321Gln)
c.721A>C (p.Lys241Gln)
n.67+1539T>G
c.1024A>C (p.Lys342Gln)
c.883A>C (p.Lys295Gln)
c.856A>C (p.Lys286Gln)
c.211A>C (p.Lys71Gln)
c.850A>C (p.Lys284Gln)
2g.115753196A>GCA348323414DPP10c.973A>G (p.Lys325Glu)
c.952A>G (p.Lys318Glu)
c.985A>G (p.Lys329Glu)
c.823A>G (p.Lys275Glu)
c.961A>G (p.Lys321Glu)
c.721A>G (p.Lys241Glu)
n.67+1539T>C
c.1024A>G (p.Lys342Glu)
c.883A>G (p.Lys295Glu)
c.856A>G (p.Lys286Glu)
c.211A>G (p.Lys71Glu)
c.850A>G (p.Lys284Glu)
2g.115753196A>TCA348323415DPP10c.973A>T (p.Lys325Ter)
c.952A>T (p.Lys318Ter)
c.985A>T (p.Lys329Ter)
c.823A>T (p.Lys275Ter)
c.961A>T (p.Lys321Ter)
c.721A>T (p.Lys241Ter)
n.67+1539T>A
c.1024A>T (p.Lys342Ter)
c.883A>T (p.Lys295Ter)
c.856A>T (p.Lys286Ter)
c.211A>T (p.Lys71Ter)
c.850A>T (p.Lys284Ter)
2g.115753197A=CA1281312524DPP10c.974A= (p.Lys325=)
c.953A= (p.Lys318=)
c.986A= (p.Lys329=)
c.824A= (p.Lys275=)
c.962A= (p.Lys321=)
c.722A= (p.Lys241=)
n.67+1538T=
c.1025A= (p.Lys342=)
c.884A= (p.Lys295=)
c.857A= (p.Lys286=)
c.212A= (p.Lys71=)
c.851A= (p.Lys284=)
2g.115753197A>CCA348323416DPP10c.974A>C (p.Lys325Thr)
c.953A>C (p.Lys318Thr)
c.986A>C (p.Lys329Thr)
c.824A>C (p.Lys275Thr)
c.962A>C (p.Lys321Thr)
c.722A>C (p.Lys241Thr)
n.67+1538T>G
c.1025A>C (p.Lys342Thr)
c.884A>C (p.Lys295Thr)
c.857A>C (p.Lys286Thr)
c.212A>C (p.Lys71Thr)
c.851A>C (p.Lys284Thr)
2g.115753197A>GCA1843058DPP10c.974A>G (p.Lys325Arg)
c.953A>G (p.Lys318Arg)
c.986A>G (p.Lys329Arg)
c.824A>G (p.Lys275Arg)
c.962A>G (p.Lys321Arg)
c.722A>G (p.Lys241Arg)
n.67+1538T>C
c.1025A>G (p.Lys342Arg)
c.884A>G (p.Lys295Arg)
c.857A>G (p.Lys286Arg)
c.212A>G (p.Lys71Arg)
c.851A>G (p.Lys284Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753197A>TCA348323417DPP10c.974A>T (p.Lys325Ile)
c.953A>T (p.Lys318Ile)
c.986A>T (p.Lys329Ile)
c.824A>T (p.Lys275Ile)
c.962A>T (p.Lys321Ile)
c.722A>T (p.Lys241Ile)
n.67+1538T>A
c.1025A>T (p.Lys342Ile)
c.884A>T (p.Lys295Ile)
c.857A>T (p.Lys286Ile)
c.212A>T (p.Lys71Ile)
c.851A>T (p.Lys284Ile)
2g.115753198A=CA1281312525DPP10c.975A= (p.Lys325=)
c.954A= (p.Lys318=)
c.987A= (p.Lys329=)
c.825A= (p.Lys275=)
c.963A= (p.Lys321=)
c.723A= (p.Lys241=)
n.67+1537T=
c.1026A= (p.Lys342=)
c.885A= (p.Lys295=)
c.858A= (p.Lys286=)
c.213A= (p.Lys71=)
c.852A= (p.Lys284=)
2g.115753198A>CCA348323419DPP10c.975A>C (p.Lys325Asn)
c.954A>C (p.Lys318Asn)
c.987A>C (p.Lys329Asn)
c.825A>C (p.Lys275Asn)
c.963A>C (p.Lys321Asn)
c.723A>C (p.Lys241Asn)
n.67+1537T>G
c.1026A>C (p.Lys342Asn)
c.885A>C (p.Lys295Asn)
c.858A>C (p.Lys286Asn)
c.213A>C (p.Lys71Asn)
c.852A>C (p.Lys284Asn)
2g.115753198A>GCA1843059DPP10c.975A>G (p.Lys325=)
c.954A>G (p.Lys318=)
c.987A>G (p.Lys329=)
c.825A>G (p.Lys275=)
c.963A>G (p.Lys321=)
c.723A>G (p.Lys241=)
n.67+1537T>C
c.1026A>G (p.Lys342=)
c.885A>G (p.Lys295=)
c.858A>G (p.Lys286=)
c.213A>G (p.Lys71=)
c.852A>G (p.Lys284=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753198A>TCA348323418DPP10c.975A>T (p.Lys325Asn)
c.954A>T (p.Lys318Asn)
c.987A>T (p.Lys329Asn)
c.825A>T (p.Lys275Asn)
c.963A>T (p.Lys321Asn)
c.723A>T (p.Lys241Asn)
n.67+1537T>A
c.1026A>T (p.Lys342Asn)
c.885A>T (p.Lys295Asn)
c.858A>T (p.Lys286Asn)
c.213A>T (p.Lys71Asn)
c.852A>T (p.Lys284Asn)
2g.115753199T>ACA348323422DPP10c.976T>A (p.Trp326Arg)
c.955T>A (p.Trp319Arg)
c.988T>A (p.Trp330Arg)
c.826T>A (p.Trp276Arg)
c.964T>A (p.Trp322Arg)
c.724T>A (p.Trp242Arg)
n.67+1536A>T
c.1027T>A (p.Trp343Arg)
c.886T>A (p.Trp296Arg)
c.859T>A (p.Trp287Arg)
c.214T>A (p.Trp72Arg)
c.853T>A (p.Trp285Arg)
2g.115753199T>CCA348323420DPP10c.976T>C (p.Trp326Arg)
c.955T>C (p.Trp319Arg)
c.988T>C (p.Trp330Arg)
c.826T>C (p.Trp276Arg)
c.964T>C (p.Trp322Arg)
c.724T>C (p.Trp242Arg)
n.67+1536A>G
c.1027T>C (p.Trp343Arg)
c.886T>C (p.Trp296Arg)
c.859T>C (p.Trp287Arg)
c.214T>C (p.Trp72Arg)
c.853T>C (p.Trp285Arg)
2g.115753199T>GCA348323421DPP10c.976T>G (p.Trp326Gly)
c.955T>G (p.Trp319Gly)
c.988T>G (p.Trp330Gly)
c.826T>G (p.Trp276Gly)
c.964T>G (p.Trp322Gly)
c.724T>G (p.Trp242Gly)
n.67+1536A>C
c.1027T>G (p.Trp343Gly)
c.886T>G (p.Trp296Gly)
c.859T>G (p.Trp287Gly)
c.214T>G (p.Trp72Gly)
c.853T>G (p.Trp285Gly)
2g.115753200G>ACA348323423DPP10c.977G>A (p.Trp326Ter)
c.956G>A (p.Trp319Ter)
c.989G>A (p.Trp330Ter)
c.827G>A (p.Trp276Ter)
c.965G>A (p.Trp322Ter)
c.725G>A (p.Trp242Ter)
n.67+1535C>T
c.1028G>A (p.Trp343Ter)
c.887G>A (p.Trp296Ter)
c.860G>A (p.Trp287Ter)
c.215G>A (p.Trp72Ter)
c.854G>A (p.Trp285Ter)
2g.115753200G>CCA348323424DPP10c.977G>C (p.Trp326Ser)
c.956G>C (p.Trp319Ser)
c.989G>C (p.Trp330Ser)
c.827G>C (p.Trp276Ser)
c.965G>C (p.Trp322Ser)
c.725G>C (p.Trp242Ser)
n.67+1535C>G
c.1028G>C (p.Trp343Ser)
c.887G>C (p.Trp296Ser)
c.860G>C (p.Trp287Ser)
c.215G>C (p.Trp72Ser)
c.854G>C (p.Trp285Ser)
2g.115753200G>TCA348323425DPP10c.977G>T (p.Trp326Leu)
c.956G>T (p.Trp319Leu)
c.989G>T (p.Trp330Leu)
c.827G>T (p.Trp276Leu)
c.965G>T (p.Trp322Leu)
c.725G>T (p.Trp242Leu)
n.67+1535C>A
c.1028G>T (p.Trp343Leu)
c.887G>T (p.Trp296Leu)
c.860G>T (p.Trp287Leu)
c.215G>T (p.Trp72Leu)
c.854G>T (p.Trp285Leu)
COSMIC COSMIC
2g.115753201G>ACA348323428DPP10c.978G>A (p.Trp326Ter)
c.957G>A (p.Trp319Ter)
c.990G>A (p.Trp330Ter)
c.828G>A (p.Trp276Ter)
c.966G>A (p.Trp322Ter)
c.726G>A (p.Trp242Ter)
n.67+1534C>T
c.1029G>A (p.Trp343Ter)
c.888G>A (p.Trp296Ter)
c.861G>A (p.Trp287Ter)
c.216G>A (p.Trp72Ter)
c.855G>A (p.Trp285Ter)
2g.115753201G>CCA348323427DPP10c.978G>C (p.Trp326Cys)
c.957G>C (p.Trp319Cys)
c.990G>C (p.Trp330Cys)
c.828G>C (p.Trp276Cys)
c.966G>C (p.Trp322Cys)
c.726G>C (p.Trp242Cys)
n.67+1534C>G
c.1029G>C (p.Trp343Cys)
c.888G>C (p.Trp296Cys)
c.861G>C (p.Trp287Cys)
c.216G>C (p.Trp72Cys)
c.855G>C (p.Trp285Cys)
2g.115753201G>TCA348323426DPP10c.978G>T (p.Trp326Cys)
c.957G>T (p.Trp319Cys)
c.990G>T (p.Trp330Cys)
c.828G>T (p.Trp276Cys)
c.966G>T (p.Trp322Cys)
c.726G>T (p.Trp242Cys)
n.67+1534C>A
c.1029G>T (p.Trp343Cys)
c.888G>T (p.Trp296Cys)
c.861G>T (p.Trp287Cys)
c.216G>T (p.Trp72Cys)
c.855G>T (p.Trp285Cys)
2g.115753202G>ACA348323429DPP10c.979G>A (p.Val327Ile)
c.958G>A (p.Val320Ile)
c.991G>A (p.Val331Ile)
c.829G>A (p.Val277Ile)
c.967G>A (p.Val323Ile)
c.727G>A (p.Val243Ile)
n.67+1533C>T
c.1030G>A (p.Val344Ile)
c.889G>A (p.Val297Ile)
c.862G>A (p.Val288Ile)
c.217G>A (p.Val73Ile)
c.856G>A (p.Val286Ile)
2g.115753202G>CCA348323430DPP10c.979G>C (p.Val327Leu)
c.958G>C (p.Val320Leu)
c.991G>C (p.Val331Leu)
c.829G>C (p.Val277Leu)
c.967G>C (p.Val323Leu)
c.727G>C (p.Val243Leu)
n.67+1533C>G
c.1030G>C (p.Val344Leu)
c.889G>C (p.Val297Leu)
c.862G>C (p.Val288Leu)
c.217G>C (p.Val73Leu)
c.856G>C (p.Val286Leu)
2g.115753202G>TCA348323431DPP10c.979G>T (p.Val327Leu)
c.958G>T (p.Val320Leu)
c.991G>T (p.Val331Leu)
c.829G>T (p.Val277Leu)
c.967G>T (p.Val323Leu)
c.727G>T (p.Val243Leu)
n.67+1533C>A
c.1030G>T (p.Val344Leu)
c.889G>T (p.Val297Leu)
c.862G>T (p.Val288Leu)
c.217G>T (p.Val73Leu)
c.856G>T (p.Val286Leu)
2g.115753203T>ACA348323432DPP10c.980T>A (p.Val327Glu)
c.959T>A (p.Val320Glu)
c.992T>A (p.Val331Glu)
c.830T>A (p.Val277Glu)
c.968T>A (p.Val323Glu)
c.728T>A (p.Val243Glu)
n.67+1532A>T
c.1031T>A (p.Val344Glu)
c.890T>A (p.Val297Glu)
c.863T>A (p.Val288Glu)
c.218T>A (p.Val73Glu)
c.857T>A (p.Val286Glu)
2g.115753203T>CCA348323433DPP10c.980T>C (p.Val327Ala)
c.959T>C (p.Val320Ala)
c.992T>C (p.Val331Ala)
c.830T>C (p.Val277Ala)
c.968T>C (p.Val323Ala)
c.728T>C (p.Val243Ala)
n.67+1532A>G
c.1031T>C (p.Val344Ala)
c.890T>C (p.Val297Ala)
c.863T>C (p.Val288Ala)
c.218T>C (p.Val73Ala)
c.857T>C (p.Val286Ala)
2g.115753203T>GCA348323434DPP10c.980T>G (p.Val327Gly)
c.959T>G (p.Val320Gly)
c.992T>G (p.Val331Gly)
c.830T>G (p.Val277Gly)
c.968T>G (p.Val323Gly)
c.728T>G (p.Val243Gly)
n.67+1532A>C
c.1031T>G (p.Val344Gly)
c.890T>G (p.Val297Gly)
c.863T>G (p.Val288Gly)
c.218T>G (p.Val73Gly)
c.857T>G (p.Val286Gly)
COSMIC COSMIC
2g.115753204A>CCA428354506DPP10c.981A>C (p.Val327=)
c.960A>C (p.Val320=)
c.993A>C (p.Val331=)
c.831A>C (p.Val277=)
c.969A>C (p.Val323=)
c.729A>C (p.Val243=)
n.67+1531T>G
c.1032A>C (p.Val344=)
c.891A>C (p.Val297=)
c.864A>C (p.Val288=)
c.219A>C (p.Val73=)
c.858A>C (p.Val286=)
2g.115753204A>GCA428354510DPP10c.981A>G (p.Val327=)
c.960A>G (p.Val320=)
c.993A>G (p.Val331=)
c.831A>G (p.Val277=)
c.969A>G (p.Val323=)
c.729A>G (p.Val243=)
n.67+1531T>C
c.1032A>G (p.Val344=)
c.891A>G (p.Val297=)
c.864A>G (p.Val288=)
c.219A>G (p.Val73=)
c.858A>G (p.Val286=)
2g.115753204A>TCA428354515DPP10c.981A>T (p.Val327=)
c.960A>T (p.Val320=)
c.993A>T (p.Val331=)
c.831A>T (p.Val277=)
c.969A>T (p.Val323=)
c.729A>T (p.Val243=)
n.67+1531T>A
c.1032A>T (p.Val344=)
c.891A>T (p.Val297=)
c.864A>T (p.Val288=)
c.219A>T (p.Val73=)
c.858A>T (p.Val286=)
2g.115753205A>CCA348323435DPP10c.982A>C (p.Ser328Arg)
c.961A>C (p.Ser321Arg)
c.994A>C (p.Ser332Arg)
c.832A>C (p.Ser278Arg)
c.970A>C (p.Ser324Arg)
c.730A>C (p.Ser244Arg)
n.67+1530T>G
c.1033A>C (p.Ser345Arg)
c.892A>C (p.Ser298Arg)
c.865A>C (p.Ser289Arg)
c.220A>C (p.Ser74Arg)
c.859A>C (p.Ser287Arg)
2g.115753205A>GCA348323437DPP10c.982A>G (p.Ser328Gly)
c.961A>G (p.Ser321Gly)
c.994A>G (p.Ser332Gly)
c.832A>G (p.Ser278Gly)
c.970A>G (p.Ser324Gly)
c.730A>G (p.Ser244Gly)
n.67+1530T>C
c.1033A>G (p.Ser345Gly)
c.892A>G (p.Ser298Gly)
c.865A>G (p.Ser289Gly)
c.220A>G (p.Ser74Gly)
c.859A>G (p.Ser287Gly)
2g.115753205A>TCA348323436DPP10c.982A>T (p.Ser328Cys)
c.961A>T (p.Ser321Cys)
c.994A>T (p.Ser332Cys)
c.832A>T (p.Ser278Cys)
c.970A>T (p.Ser324Cys)
c.730A>T (p.Ser244Cys)
n.67+1530T>A
c.1033A>T (p.Ser345Cys)
c.892A>T (p.Ser298Cys)
c.865A>T (p.Ser289Cys)
c.220A>T (p.Ser74Cys)
c.859A>T (p.Ser287Cys)
2g.115753206G>ACA348323438DPP10c.983G>A (p.Ser328Asn)
c.962G>A (p.Ser321Asn)
c.995G>A (p.Ser332Asn)
c.833G>A (p.Ser278Asn)
c.971G>A (p.Ser324Asn)
c.731G>A (p.Ser244Asn)
n.67+1529C>T
c.1034G>A (p.Ser345Asn)
c.893G>A (p.Ser298Asn)
c.866G>A (p.Ser289Asn)
c.221G>A (p.Ser74Asn)
c.860G>A (p.Ser287Asn)
2g.115753206G>CCA54497560DPP10c.983G>C (p.Ser328Thr)
c.962G>C (p.Ser321Thr)
c.995G>C (p.Ser332Thr)
c.833G>C (p.Ser278Thr)
c.971G>C (p.Ser324Thr)
c.731G>C (p.Ser244Thr)
n.67+1529C>G
c.1034G>C (p.Ser345Thr)
c.893G>C (p.Ser298Thr)
c.866G>C (p.Ser289Thr)
c.221G>C (p.Ser74Thr)
c.860G>C (p.Ser287Thr)
dbSNP
2g.115753206G=CA1281312526DPP10c.983G= (p.Ser328=)
c.962G= (p.Ser321=)
c.995G= (p.Ser332=)
c.833G= (p.Ser278=)
c.971G= (p.Ser324=)
c.731G= (p.Ser244=)
n.67+1529C=
c.1034G= (p.Ser345=)
c.893G= (p.Ser298=)
c.866G= (p.Ser289=)
c.221G= (p.Ser74=)
c.860G= (p.Ser287=)
2g.115753206G>TCA348323439DPP10c.983G>T (p.Ser328Ile)
c.962G>T (p.Ser321Ile)
c.995G>T (p.Ser332Ile)
c.833G>T (p.Ser278Ile)
c.971G>T (p.Ser324Ile)
c.731G>T (p.Ser244Ile)
n.67+1529C>A
c.1034G>T (p.Ser345Ile)
c.893G>T (p.Ser298Ile)
c.866G>T (p.Ser289Ile)
c.221G>T (p.Ser74Ile)
c.860G>T (p.Ser287Ile)
2g.115753207C>ACA348323440DPP10c.984C>A (p.Ser328Arg)
c.963C>A (p.Ser321Arg)
c.996C>A (p.Ser332Arg)
c.834C>A (p.Ser278Arg)
c.972C>A (p.Ser324Arg)
c.732C>A (p.Ser244Arg)
n.67+1528G>T
c.1035C>A (p.Ser345Arg)
c.894C>A (p.Ser298Arg)
c.867C>A (p.Ser289Arg)
c.222C>A (p.Ser74Arg)
c.861C>A (p.Ser287Arg)
2g.115753207C>GCA348323441DPP10c.984C>G (p.Ser328Arg)
c.963C>G (p.Ser321Arg)
c.996C>G (p.Ser332Arg)
c.834C>G (p.Ser278Arg)
c.972C>G (p.Ser324Arg)
c.732C>G (p.Ser244Arg)
n.67+1528G>C
c.1035C>G (p.Ser345Arg)
c.894C>G (p.Ser298Arg)
c.867C>G (p.Ser289Arg)
c.222C>G (p.Ser74Arg)
c.861C>G (p.Ser287Arg)
2g.115753207C>TCA428354572DPP10c.984C>T (p.Ser328=)
c.963C>T (p.Ser321=)
c.996C>T (p.Ser332=)
c.834C>T (p.Ser278=)
c.972C>T (p.Ser324=)
c.732C>T (p.Ser244=)
n.67+1528G>A
c.1035C>T (p.Ser345=)
c.894C>T (p.Ser298=)
c.867C>T (p.Ser289=)
c.222C>T (p.Ser74=)
c.861C>T (p.Ser287=)
2g.115753208A>CCA348323442DPP10c.985A>C (p.Asn329His)
c.964A>C (p.Asn322His)
c.997A>C (p.Asn333His)
c.835A>C (p.Asn279His)
c.973A>C (p.Asn325His)
c.733A>C (p.Asn245His)
n.67+1527T>G
c.1036A>C (p.Asn346His)
c.895A>C (p.Asn299His)
c.868A>C (p.Asn290His)
c.223A>C (p.Asn75His)
c.862A>C (p.Asn288His)
gnomAD v4
2g.115753208A>GCA348323443DPP10c.985A>G (p.Asn329Asp)
c.964A>G (p.Asn322Asp)
c.997A>G (p.Asn333Asp)
c.835A>G (p.Asn279Asp)
c.973A>G (p.Asn325Asp)
c.733A>G (p.Asn245Asp)
n.67+1527T>C
c.1036A>G (p.Asn346Asp)
c.895A>G (p.Asn299Asp)
c.868A>G (p.Asn290Asp)
c.223A>G (p.Asn75Asp)
c.862A>G (p.Asn288Asp)
2g.115753208A>TCA348323444DPP10c.985A>T (p.Asn329Tyr)
c.964A>T (p.Asn322Tyr)
c.997A>T (p.Asn333Tyr)
c.835A>T (p.Asn279Tyr)
c.973A>T (p.Asn325Tyr)
c.733A>T (p.Asn245Tyr)
n.67+1527T>A
c.1036A>T (p.Asn346Tyr)
c.895A>T (p.Asn299Tyr)
c.868A>T (p.Asn290Tyr)
c.223A>T (p.Asn75Tyr)
c.862A>T (p.Asn288Tyr)
2g.115753209A>CCA348323445DPP10c.986A>C (p.Asn329Thr)
c.965A>C (p.Asn322Thr)
c.998A>C (p.Asn333Thr)
c.836A>C (p.Asn279Thr)
c.974A>C (p.Asn325Thr)
c.734A>C (p.Asn245Thr)
n.67+1526T>G
c.1037A>C (p.Asn346Thr)
c.896A>C (p.Asn299Thr)
c.869A>C (p.Asn290Thr)
c.224A>C (p.Asn75Thr)
c.863A>C (p.Asn288Thr)
gnomAD v4
2g.115753209A>GCA348323446DPP10c.986A>G (p.Asn329Ser)
c.965A>G (p.Asn322Ser)
c.998A>G (p.Asn333Ser)
c.836A>G (p.Asn279Ser)
c.974A>G (p.Asn325Ser)
c.734A>G (p.Asn245Ser)
n.67+1526T>C
c.1037A>G (p.Asn346Ser)
c.896A>G (p.Asn299Ser)
c.869A>G (p.Asn290Ser)
c.224A>G (p.Asn75Ser)
c.863A>G (p.Asn288Ser)
2g.115753209A>TCA348323447DPP10c.986A>T (p.Asn329Ile)
c.965A>T (p.Asn322Ile)
c.998A>T (p.Asn333Ile)
c.836A>T (p.Asn279Ile)
c.974A>T (p.Asn325Ile)
c.734A>T (p.Asn245Ile)
n.67+1526T>A
c.1037A>T (p.Asn346Ile)
c.896A>T (p.Asn299Ile)
c.869A>T (p.Asn290Ile)
c.224A>T (p.Asn75Ile)
c.863A>T (p.Asn288Ile)
2g.115753210T>ACA348323449DPP10c.987T>A (p.Asn329Lys)
c.966T>A (p.Asn322Lys)
c.999T>A (p.Asn333Lys)
c.837T>A (p.Asn279Lys)
c.975T>A (p.Asn325Lys)
c.735T>A (p.Asn245Lys)
n.67+1525A>T
c.1038T>A (p.Asn346Lys)
c.897T>A (p.Asn299Lys)
c.870T>A (p.Asn290Lys)
c.225T>A (p.Asn75Lys)
c.864T>A (p.Asn288Lys)
2g.115753210T>CCA428354599DPP10c.987T>C (p.Asn329=)
c.966T>C (p.Asn322=)
c.999T>C (p.Asn333=)
c.837T>C (p.Asn279=)
c.975T>C (p.Asn325=)
c.735T>C (p.Asn245=)
n.67+1525A>G
c.1038T>C (p.Asn346=)
c.897T>C (p.Asn299=)
c.870T>C (p.Asn290=)
c.225T>C (p.Asn75=)
c.864T>C (p.Asn288=)
2g.115753210T>GCA348323448DPP10c.987T>G (p.Asn329Lys)
c.966T>G (p.Asn322Lys)
c.999T>G (p.Asn333Lys)
c.837T>G (p.Asn279Lys)
c.975T>G (p.Asn325Lys)
c.735T>G (p.Asn245Lys)
n.67+1525A>C
c.1038T>G (p.Asn346Lys)
c.897T>G (p.Asn299Lys)
c.870T>G (p.Asn290Lys)
c.225T>G (p.Asn75Lys)
c.864T>G (p.Asn288Lys)
2g.115753211A>CCA348323450DPP10c.988A>C (p.Thr330Pro)
c.967A>C (p.Thr323Pro)
c.1000A>C (p.Thr334Pro)
c.838A>C (p.Thr280Pro)
c.976A>C (p.Thr326Pro)
c.736A>C (p.Thr246Pro)
n.67+1524T>G
c.1039A>C (p.Thr347Pro)
c.898A>C (p.Thr300Pro)
c.871A>C (p.Thr291Pro)
c.226A>C (p.Thr76Pro)
c.865A>C (p.Thr289Pro)
2g.115753211A>GCA348323451DPP10c.988A>G (p.Thr330Ala)
c.967A>G (p.Thr323Ala)
c.1000A>G (p.Thr334Ala)
c.838A>G (p.Thr280Ala)
c.976A>G (p.Thr326Ala)
c.736A>G (p.Thr246Ala)
n.67+1524T>C
c.1039A>G (p.Thr347Ala)
c.898A>G (p.Thr300Ala)
c.871A>G (p.Thr291Ala)
c.226A>G (p.Thr76Ala)
c.865A>G (p.Thr289Ala)
2g.115753211A>TCA348323452DPP10c.988A>T (p.Thr330Ser)
c.967A>T (p.Thr323Ser)
c.1000A>T (p.Thr334Ser)
c.838A>T (p.Thr280Ser)
c.976A>T (p.Thr326Ser)
c.736A>T (p.Thr246Ser)
n.67+1524T>A
c.1039A>T (p.Thr347Ser)
c.898A>T (p.Thr300Ser)
c.871A>T (p.Thr291Ser)
c.226A>T (p.Thr76Ser)
c.865A>T (p.Thr289Ser)
2g.115753212C>ACA348323453DPP10c.989C>A (p.Thr330Asn)
c.968C>A (p.Thr323Asn)
c.1001C>A (p.Thr334Asn)
c.839C>A (p.Thr280Asn)
c.977C>A (p.Thr326Asn)
c.737C>A (p.Thr246Asn)
n.67+1523G>T
c.1040C>A (p.Thr347Asn)
c.899C>A (p.Thr300Asn)
c.872C>A (p.Thr291Asn)
c.227C>A (p.Thr76Asn)
c.866C>A (p.Thr289Asn)
dbSNP gnomAD v2
2g.115753212C=CA1281312527DPP10c.989C= (p.Thr330=)
c.968C= (p.Thr323=)
c.1001C= (p.Thr334=)
c.839C= (p.Thr280=)
c.977C= (p.Thr326=)
c.737C= (p.Thr246=)
n.67+1523G=
c.1040C= (p.Thr347=)
c.899C= (p.Thr300=)
c.872C= (p.Thr291=)
c.227C= (p.Thr76=)
c.866C= (p.Thr289=)
2g.115753212C>GCA348323454DPP10c.989C>G (p.Thr330Ser)
c.968C>G (p.Thr323Ser)
c.1001C>G (p.Thr334Ser)
c.839C>G (p.Thr280Ser)
c.977C>G (p.Thr326Ser)
c.737C>G (p.Thr246Ser)
n.67+1523G>C
c.1040C>G (p.Thr347Ser)
c.899C>G (p.Thr300Ser)
c.872C>G (p.Thr291Ser)
c.227C>G (p.Thr76Ser)
c.866C>G (p.Thr289Ser)
2g.115753212C>TCA348323455DPP10c.989C>T (p.Thr330Ile)
c.968C>T (p.Thr323Ile)
c.1001C>T (p.Thr334Ile)
c.839C>T (p.Thr280Ile)
c.977C>T (p.Thr326Ile)
c.737C>T (p.Thr246Ile)
n.67+1523G>A
c.1040C>T (p.Thr347Ile)
c.899C>T (p.Thr300Ile)
c.872C>T (p.Thr291Ile)
c.227C>T (p.Thr76Ile)
c.866C>T (p.Thr289Ile)
2g.115753213C>ACA428354656DPP10c.990C>A (p.Thr330=)
c.969C>A (p.Thr323=)
c.1002C>A (p.Thr334=)
c.840C>A (p.Thr280=)
c.978C>A (p.Thr326=)
c.738C>A (p.Thr246=)
n.67+1522G>T
c.1041C>A (p.Thr347=)
c.900C>A (p.Thr300=)
c.873C>A (p.Thr291=)
c.228C>A (p.Thr76=)
c.867C>A (p.Thr289=)
COSMIC COSMIC
2g.115753213C=CA1281312528DPP10c.990C= (p.Thr330=)
c.969C= (p.Thr323=)
c.1002C= (p.Thr334=)
c.840C= (p.Thr280=)
c.978C= (p.Thr326=)
c.738C= (p.Thr246=)
n.67+1522G=
c.1041C= (p.Thr347=)
c.900C= (p.Thr300=)
c.873C= (p.Thr291=)
c.228C= (p.Thr76=)
c.867C= (p.Thr289=)
2g.115753213C>GCA428354660DPP10c.990C>G (p.Thr330=)
c.969C>G (p.Thr323=)
c.1002C>G (p.Thr334=)
c.840C>G (p.Thr280=)
c.978C>G (p.Thr326=)
c.738C>G (p.Thr246=)
n.67+1522G>C
c.1041C>G (p.Thr347=)
c.900C>G (p.Thr300=)
c.873C>G (p.Thr291=)
c.228C>G (p.Thr76=)
c.867C>G (p.Thr289=)
2g.115753213C>TCA1843060DPP10c.990C>T (p.Thr330=)
c.969C>T (p.Thr323=)
c.1002C>T (p.Thr334=)
c.840C>T (p.Thr280=)
c.978C>T (p.Thr326=)
c.738C>T (p.Thr246=)
n.67+1522G>A
c.1041C>T (p.Thr347=)
c.900C>T (p.Thr300=)
c.873C>T (p.Thr291=)
c.228C>T (p.Thr76=)
c.867C>T (p.Thr289=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753214A>CCA348323458DPP10c.991A>C (p.Lys331Gln)
c.970A>C (p.Lys324Gln)
c.1003A>C (p.Lys335Gln)
c.841A>C (p.Lys281Gln)
c.979A>C (p.Lys327Gln)
c.739A>C (p.Lys247Gln)
n.67+1521T>G
c.1042A>C (p.Lys348Gln)
c.901A>C (p.Lys301Gln)
c.874A>C (p.Lys292Gln)
c.229A>C (p.Lys77Gln)
c.868A>C (p.Lys290Gln)
2g.115753214A>GCA348323456DPP10c.991A>G (p.Lys331Glu)
c.970A>G (p.Lys324Glu)
c.1003A>G (p.Lys335Glu)
c.841A>G (p.Lys281Glu)
c.979A>G (p.Lys327Glu)
c.739A>G (p.Lys247Glu)
n.67+1521T>C
c.1042A>G (p.Lys348Glu)
c.901A>G (p.Lys301Glu)
c.874A>G (p.Lys292Glu)
c.229A>G (p.Lys77Glu)
c.868A>G (p.Lys290Glu)
2g.115753214A>TCA348323457DPP10c.991A>T (p.Lys331Ter)
c.970A>T (p.Lys324Ter)
c.1003A>T (p.Lys335Ter)
c.841A>T (p.Lys281Ter)
c.979A>T (p.Lys327Ter)
c.739A>T (p.Lys247Ter)
n.67+1521T>A
c.1042A>T (p.Lys348Ter)
c.901A>T (p.Lys301Ter)
c.874A>T (p.Lys292Ter)
c.229A>T (p.Lys77Ter)
c.868A>T (p.Lys290Ter)
2g.115753215A=CA1281312529DPP10c.992A= (p.Lys331=)
c.971A= (p.Lys324=)
c.1004A= (p.Lys335=)
c.842A= (p.Lys281=)
c.980A= (p.Lys327=)
c.740A= (p.Lys247=)
n.67+1520T=
c.1043A= (p.Lys348=)
c.902A= (p.Lys301=)
c.875A= (p.Lys292=)
c.230A= (p.Lys77=)
c.869A= (p.Lys290=)
2g.115753215A>CCA348323459DPP10c.992A>C (p.Lys331Thr)
c.971A>C (p.Lys324Thr)
c.1004A>C (p.Lys335Thr)
c.842A>C (p.Lys281Thr)
c.980A>C (p.Lys327Thr)
c.740A>C (p.Lys247Thr)
n.67+1520T>G
c.1043A>C (p.Lys348Thr)
c.902A>C (p.Lys301Thr)
c.875A>C (p.Lys292Thr)
c.230A>C (p.Lys77Thr)
c.869A>C (p.Lys290Thr)
2g.115753215A>GCA1843061DPP10c.992A>G (p.Lys331Arg)
c.971A>G (p.Lys324Arg)
c.1004A>G (p.Lys335Arg)
c.842A>G (p.Lys281Arg)
c.980A>G (p.Lys327Arg)
c.740A>G (p.Lys247Arg)
n.67+1520T>C
c.1043A>G (p.Lys348Arg)
c.902A>G (p.Lys301Arg)
c.875A>G (p.Lys292Arg)
c.230A>G (p.Lys77Arg)
c.869A>G (p.Lys290Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753215A>TCA348323460DPP10c.992A>T (p.Lys331Met)
c.971A>T (p.Lys324Met)
c.1004A>T (p.Lys335Met)
c.842A>T (p.Lys281Met)
c.980A>T (p.Lys327Met)
c.740A>T (p.Lys247Met)
n.67+1520T>A
c.1043A>T (p.Lys348Met)
c.902A>T (p.Lys301Met)
c.875A>T (p.Lys292Met)
c.230A>T (p.Lys77Met)
c.869A>T (p.Lys290Met)
2g.115753216G>ACA54497586DPP10c.993G>A (p.Lys331=)
c.972G>A (p.Lys324=)
c.1005G>A (p.Lys335=)
c.843G>A (p.Lys281=)
c.981G>A (p.Lys327=)
c.741G>A (p.Lys247=)
n.67+1519C>T
c.1044G>A (p.Lys348=)
c.903G>A (p.Lys301=)
c.876G>A (p.Lys292=)
c.231G>A (p.Lys77=)
c.870G>A (p.Lys290=)
dbSNP gnomAD v3 gnomAD v4
2g.115753216G>CCA348323461DPP10c.993G>C (p.Lys331Asn)
c.972G>C (p.Lys324Asn)
c.1005G>C (p.Lys335Asn)
c.843G>C (p.Lys281Asn)
c.981G>C (p.Lys327Asn)
c.741G>C (p.Lys247Asn)
n.67+1519C>G
c.1044G>C (p.Lys348Asn)
c.903G>C (p.Lys301Asn)
c.876G>C (p.Lys292Asn)
c.231G>C (p.Lys77Asn)
c.870G>C (p.Lys290Asn)
gnomAD v4
2g.115753216G=CA1281312530DPP10c.993G= (p.Lys331=)
c.972G= (p.Lys324=)
c.1005G= (p.Lys335=)
c.843G= (p.Lys281=)
c.981G= (p.Lys327=)
c.741G= (p.Lys247=)
n.67+1519C=
c.1044G= (p.Lys348=)
c.903G= (p.Lys301=)
c.876G= (p.Lys292=)
c.231G= (p.Lys77=)
c.870G= (p.Lys290=)
2g.115753216G>TCA348323462DPP10c.993G>T (p.Lys331Asn)
c.972G>T (p.Lys324Asn)
c.1005G>T (p.Lys335Asn)
c.843G>T (p.Lys281Asn)
c.981G>T (p.Lys327Asn)
c.741G>T (p.Lys247Asn)
n.67+1519C>A
c.1044G>T (p.Lys348Asn)
c.903G>T (p.Lys301Asn)
c.876G>T (p.Lys292Asn)
c.231G>T (p.Lys77Asn)
c.870G>T (p.Lys290Asn)
2g.115753217A>CCA348323463DPP10c.994A>C (p.Thr332Pro)
c.973A>C (p.Thr325Pro)
c.1006A>C (p.Thr336Pro)
c.844A>C (p.Thr282Pro)
c.982A>C (p.Thr328Pro)
c.742A>C (p.Thr248Pro)
n.67+1518T>G
c.1045A>C (p.Thr349Pro)
c.904A>C (p.Thr302Pro)
c.877A>C (p.Thr293Pro)
c.232A>C (p.Thr78Pro)
c.871A>C (p.Thr291Pro)
2g.115753217A>GCA348323465DPP10c.994A>G (p.Thr332Ala)
c.973A>G (p.Thr325Ala)
c.1006A>G (p.Thr336Ala)
c.844A>G (p.Thr282Ala)
c.982A>G (p.Thr328Ala)
c.742A>G (p.Thr248Ala)
n.67+1518T>C
c.1045A>G (p.Thr349Ala)
c.904A>G (p.Thr302Ala)
c.877A>G (p.Thr293Ala)
c.232A>G (p.Thr78Ala)
c.871A>G (p.Thr291Ala)
2g.115753217A>TCA348323464DPP10c.994A>T (p.Thr332Ser)
c.973A>T (p.Thr325Ser)
c.1006A>T (p.Thr336Ser)
c.844A>T (p.Thr282Ser)
c.982A>T (p.Thr328Ser)
c.742A>T (p.Thr248Ser)
n.67+1518T>A
c.1045A>T (p.Thr349Ser)
c.904A>T (p.Thr302Ser)
c.877A>T (p.Thr293Ser)
c.232A>T (p.Thr78Ser)
c.871A>T (p.Thr291Ser)
2g.115753218C>ACA348323466DPP10c.995C>A (p.Thr332Asn)
c.974C>A (p.Thr325Asn)
c.1007C>A (p.Thr336Asn)
c.845C>A (p.Thr282Asn)
c.983C>A (p.Thr328Asn)
c.743C>A (p.Thr248Asn)
n.67+1517G>T
c.1046C>A (p.Thr349Asn)
c.905C>A (p.Thr302Asn)
c.878C>A (p.Thr293Asn)
c.233C>A (p.Thr78Asn)
c.872C>A (p.Thr291Asn)
2g.115753218C>GCA348323467DPP10c.995C>G (p.Thr332Ser)
c.974C>G (p.Thr325Ser)
c.1007C>G (p.Thr336Ser)
c.845C>G (p.Thr282Ser)
c.983C>G (p.Thr328Ser)
c.743C>G (p.Thr248Ser)
n.67+1517G>C
c.1046C>G (p.Thr349Ser)
c.905C>G (p.Thr302Ser)
c.878C>G (p.Thr293Ser)
c.233C>G (p.Thr78Ser)
c.872C>G (p.Thr291Ser)
2g.115753218C>TCA348323468DPP10c.995C>T (p.Thr332Ile)
c.974C>T (p.Thr325Ile)
c.1007C>T (p.Thr336Ile)
c.845C>T (p.Thr282Ile)
c.983C>T (p.Thr328Ile)
c.743C>T (p.Thr248Ile)
n.67+1517G>A
c.1046C>T (p.Thr349Ile)
c.905C>T (p.Thr302Ile)
c.878C>T (p.Thr293Ile)
c.233C>T (p.Thr78Ile)
c.872C>T (p.Thr291Ile)
2g.115753219T>ACA428354722DPP10c.996T>A (p.Thr332=)
c.975T>A (p.Thr325=)
c.1008T>A (p.Thr336=)
c.846T>A (p.Thr282=)
c.984T>A (p.Thr328=)
c.744T>A (p.Thr248=)
n.67+1516A>T
c.1047T>A (p.Thr349=)
c.906T>A (p.Thr302=)
c.879T>A (p.Thr293=)
c.234T>A (p.Thr78=)
c.873T>A (p.Thr291=)
2g.115753219T>CCA428354727DPP10c.996T>C (p.Thr332=)
c.975T>C (p.Thr325=)
c.1008T>C (p.Thr336=)
c.846T>C (p.Thr282=)
c.984T>C (p.Thr328=)
c.744T>C (p.Thr248=)
n.67+1516A>G
c.1047T>C (p.Thr349=)
c.906T>C (p.Thr302=)
c.879T>C (p.Thr293=)
c.234T>C (p.Thr78=)
c.873T>C (p.Thr291=)
gnomAD v4
2g.115753219T>GCA428354730DPP10c.996T>G (p.Thr332=)
c.975T>G (p.Thr325=)
c.1008T>G (p.Thr336=)
c.846T>G (p.Thr282=)
c.984T>G (p.Thr328=)
c.744T>G (p.Thr248=)
n.67+1516A>C
c.1047T>G (p.Thr349=)
c.906T>G (p.Thr302=)
c.879T>G (p.Thr293=)
c.234T>G (p.Thr78=)
c.873T>G (p.Thr291=)
2g.115753220G>ACA348323469DPP10c.997G>A (p.Val333Met)
c.976G>A (p.Val326Met)
c.1009G>A (p.Val337Met)
c.847G>A (p.Val283Met)
c.985G>A (p.Val329Met)
c.745G>A (p.Val249Met)
n.67+1515C>T
c.1048G>A (p.Val350Met)
c.907G>A (p.Val303Met)
c.880G>A (p.Val294Met)
c.235G>A (p.Val79Met)
c.874G>A (p.Val292Met)
2g.115753220G>CCA348323470DPP10c.997G>C (p.Val333Leu)
c.976G>C (p.Val326Leu)
c.1009G>C (p.Val337Leu)
c.847G>C (p.Val283Leu)
c.985G>C (p.Val329Leu)
c.745G>C (p.Val249Leu)
n.67+1515C>G
c.1048G>C (p.Val350Leu)
c.907G>C (p.Val303Leu)
c.880G>C (p.Val294Leu)
c.235G>C (p.Val79Leu)
c.874G>C (p.Val292Leu)
2g.115753220G>TCA348323471DPP10c.997G>T (p.Val333Leu)
c.976G>T (p.Val326Leu)
c.1009G>T (p.Val337Leu)
c.847G>T (p.Val283Leu)
c.985G>T (p.Val329Leu)
c.745G>T (p.Val249Leu)
n.67+1515C>A
c.1048G>T (p.Val350Leu)
c.907G>T (p.Val303Leu)
c.880G>T (p.Val294Leu)
c.235G>T (p.Val79Leu)
c.874G>T (p.Val292Leu)
2g.115753221T>ACA348323472DPP10c.998T>A (p.Val333Glu)
c.977T>A (p.Val326Glu)
c.1010T>A (p.Val337Glu)
c.848T>A (p.Val283Glu)
c.986T>A (p.Val329Glu)
c.746T>A (p.Val249Glu)
n.67+1514A>T
c.1049T>A (p.Val350Glu)
c.908T>A (p.Val303Glu)
c.881T>A (p.Val294Glu)
c.236T>A (p.Val79Glu)
c.875T>A (p.Val292Glu)
2g.115753221T>CCA348323473DPP10c.998T>C (p.Val333Ala)
c.977T>C (p.Val326Ala)
c.1010T>C (p.Val337Ala)
c.848T>C (p.Val283Ala)
c.986T>C (p.Val329Ala)
c.746T>C (p.Val249Ala)
n.67+1514A>G
c.1049T>C (p.Val350Ala)
c.908T>C (p.Val303Ala)
c.881T>C (p.Val294Ala)
c.236T>C (p.Val79Ala)
c.875T>C (p.Val292Ala)
gnomAD v4
2g.115753221T>GCA348323474DPP10c.998T>G (p.Val333Gly)
c.977T>G (p.Val326Gly)
c.1010T>G (p.Val337Gly)
c.848T>G (p.Val283Gly)
c.986T>G (p.Val329Gly)
c.746T>G (p.Val249Gly)
n.67+1514A>C
c.1049T>G (p.Val350Gly)
c.908T>G (p.Val303Gly)
c.881T>G (p.Val294Gly)
c.236T>G (p.Val79Gly)
c.875T>G (p.Val292Gly)
2g.115753222G>ACA428354759DPP10c.999G>A (p.Val333=)
c.978G>A (p.Val326=)
c.1011G>A (p.Val337=)
c.849G>A (p.Val283=)
c.987G>A (p.Val329=)
c.747G>A (p.Val249=)
n.67+1513C>T
c.1050G>A (p.Val350=)
c.909G>A (p.Val303=)
c.882G>A (p.Val294=)
c.237G>A (p.Val79=)
c.876G>A (p.Val292=)
2g.115753222G>CCA428354765DPP10c.999G>C (p.Val333=)
c.978G>C (p.Val326=)
c.1011G>C (p.Val337=)
c.849G>C (p.Val283=)
c.987G>C (p.Val329=)
c.747G>C (p.Val249=)
n.67+1513C>G
c.1050G>C (p.Val350=)
c.909G>C (p.Val303=)
c.882G>C (p.Val294=)
c.237G>C (p.Val79=)
c.876G>C (p.Val292=)
2g.115753222G>TCA428354761DPP10c.999G>T (p.Val333=)
c.978G>T (p.Val326=)
c.1011G>T (p.Val337=)
c.849G>T (p.Val283=)
c.987G>T (p.Val329=)
c.747G>T (p.Val249=)
n.67+1513C>A
c.1050G>T (p.Val350=)
c.909G>T (p.Val303=)
c.882G>T (p.Val294=)
c.237G>T (p.Val79=)
c.876G>T (p.Val292=)
2g.115753223G>ACA348323475DPP10c.1000G>A (p.Val334Ile)
c.979G>A (p.Val327Ile)
c.1012G>A (p.Val338Ile)
c.850G>A (p.Val284Ile)
c.988G>A (p.Val330Ile)
c.748G>A (p.Val250Ile)
n.67+1512C>T
c.1051G>A (p.Val351Ile)
c.910G>A (p.Val304Ile)
c.883G>A (p.Val295Ile)
c.238G>A (p.Val80Ile)
c.877G>A (p.Val293Ile)
gnomAD v4
2g.115753223G>CCA348323476DPP10c.1000G>C (p.Val334Leu)
c.979G>C (p.Val327Leu)
c.1012G>C (p.Val338Leu)
c.850G>C (p.Val284Leu)
c.988G>C (p.Val330Leu)
c.748G>C (p.Val250Leu)
n.67+1512C>G
c.1051G>C (p.Val351Leu)
c.910G>C (p.Val304Leu)
c.883G>C (p.Val295Leu)
c.238G>C (p.Val80Leu)
c.877G>C (p.Val293Leu)
2g.115753223G>TCA348323477DPP10c.1000G>T (p.Val334Leu)
c.979G>T (p.Val327Leu)
c.1012G>T (p.Val338Leu)
c.850G>T (p.Val284Leu)
c.988G>T (p.Val330Leu)
c.748G>T (p.Val250Leu)
n.67+1512C>A
c.1051G>T (p.Val351Leu)
c.910G>T (p.Val304Leu)
c.883G>T (p.Val295Leu)
c.238G>T (p.Val80Leu)
c.877G>T (p.Val293Leu)
2g.115753224T>ACA348323478DPP10c.1001T>A (p.Val334Glu)
c.980T>A (p.Val327Glu)
c.1013T>A (p.Val338Glu)
c.851T>A (p.Val284Glu)
c.989T>A (p.Val330Glu)
c.749T>A (p.Val250Glu)
n.67+1511A>T
c.1052T>A (p.Val351Glu)
c.911T>A (p.Val304Glu)
c.884T>A (p.Val295Glu)
c.239T>A (p.Val80Glu)
c.878T>A (p.Val293Glu)
2g.115753224T>CCA348323480DPP10c.1001T>C (p.Val334Ala)
c.980T>C (p.Val327Ala)
c.1013T>C (p.Val338Ala)
c.851T>C (p.Val284Ala)
c.989T>C (p.Val330Ala)
c.749T>C (p.Val250Ala)
n.67+1511A>G
c.1052T>C (p.Val351Ala)
c.911T>C (p.Val304Ala)
c.884T>C (p.Val295Ala)
c.239T>C (p.Val80Ala)
c.878T>C (p.Val293Ala)
2g.115753224T>GCA348323479DPP10c.1001T>G (p.Val334Gly)
c.980T>G (p.Val327Gly)
c.1013T>G (p.Val338Gly)
c.851T>G (p.Val284Gly)
c.989T>G (p.Val330Gly)
c.749T>G (p.Val250Gly)
n.67+1511A>C
c.1052T>G (p.Val351Gly)
c.911T>G (p.Val304Gly)
c.884T>G (p.Val295Gly)
c.239T>G (p.Val80Gly)
c.878T>G (p.Val293Gly)
2g.115753225A=CA1281312531DPP10c.1002A= (p.Val334=)
c.981A= (p.Val327=)
c.1014A= (p.Val338=)
c.852A= (p.Val284=)
c.990A= (p.Val330=)
c.750A= (p.Val250=)
n.67+1510T=
c.1053A= (p.Val351=)
c.912A= (p.Val304=)
c.885A= (p.Val295=)
c.240A= (p.Val80=)
c.879A= (p.Val293=)
2g.115753225A>CCA428354795DPP10c.1002A>C (p.Val334=)
c.981A>C (p.Val327=)
c.1014A>C (p.Val338=)
c.852A>C (p.Val284=)
c.990A>C (p.Val330=)
c.750A>C (p.Val250=)
n.67+1510T>G
c.1053A>C (p.Val351=)
c.912A>C (p.Val304=)
c.885A>C (p.Val295=)
c.240A>C (p.Val80=)
c.879A>C (p.Val293=)
2g.115753225A>GCA428354798DPP10c.1002A>G (p.Val334=)
c.981A>G (p.Val327=)
c.1014A>G (p.Val338=)
c.852A>G (p.Val284=)
c.990A>G (p.Val330=)
c.750A>G (p.Val250=)
n.67+1510T>C
c.1053A>G (p.Val351=)
c.912A>G (p.Val304=)
c.885A>G (p.Val295=)
c.240A>G (p.Val80=)
c.879A>G (p.Val293=)
dbSNP gnomAD v3 gnomAD v4
2g.115753225A>TCA428354802DPP10c.1002A>T (p.Val334=)
c.981A>T (p.Val327=)
c.1014A>T (p.Val338=)
c.852A>T (p.Val284=)
c.990A>T (p.Val330=)
c.750A>T (p.Val250=)
n.67+1510T>A
c.1053A>T (p.Val351=)
c.912A>T (p.Val304=)
c.885A>T (p.Val295=)
c.240A>T (p.Val80=)
c.879A>T (p.Val293=)
COSMIC
2g.115753226A>CCA428354807DPP10c.1003A>C (p.Arg335=)
c.982A>C (p.Arg328=)
c.1015A>C (p.Arg339=)
c.853A>C (p.Arg285=)
c.991A>C (p.Arg331=)
c.751A>C (p.Arg251=)
n.67+1509T>G
c.1054A>C (p.Arg352=)
c.913A>C (p.Arg305=)
c.886A>C (p.Arg296=)
c.241A>C (p.Arg81=)
c.880A>C (p.Arg294=)
2g.115753226A>GCA348323481DPP10c.1003A>G (p.Arg335Gly)
c.982A>G (p.Arg328Gly)
c.1015A>G (p.Arg339Gly)
c.853A>G (p.Arg285Gly)
c.991A>G (p.Arg331Gly)
c.751A>G (p.Arg251Gly)
n.67+1509T>C
c.1054A>G (p.Arg352Gly)
c.913A>G (p.Arg305Gly)
c.886A>G (p.Arg296Gly)
c.241A>G (p.Arg81Gly)
c.880A>G (p.Arg294Gly)
2g.115753226A>TCA348323482DPP10c.1003A>T (p.Arg335Ter)
c.982A>T (p.Arg328Ter)
c.1015A>T (p.Arg339Ter)
c.853A>T (p.Arg285Ter)
c.991A>T (p.Arg331Ter)
c.751A>T (p.Arg251Ter)
n.67+1509T>A
c.1054A>T (p.Arg352Ter)
c.913A>T (p.Arg305Ter)
c.886A>T (p.Arg296Ter)
c.241A>T (p.Arg81Ter)
c.880A>T (p.Arg294Ter)
2g.115753227G>ACA348323483DPP10c.1004G>A (p.Arg335Lys)
c.983G>A (p.Arg328Lys)
c.1016G>A (p.Arg339Lys)
c.854G>A (p.Arg285Lys)
c.992G>A (p.Arg331Lys)
c.752G>A (p.Arg251Lys)
n.67+1508C>T
c.1055G>A (p.Arg352Lys)
c.914G>A (p.Arg305Lys)
c.887G>A (p.Arg296Lys)
c.242G>A (p.Arg81Lys)
c.881G>A (p.Arg294Lys)
2g.115753227G>CCA348323484DPP10c.1004G>C (p.Arg335Thr)
c.983G>C (p.Arg328Thr)
c.1016G>C (p.Arg339Thr)
c.854G>C (p.Arg285Thr)
c.992G>C (p.Arg331Thr)
c.752G>C (p.Arg251Thr)
n.67+1508C>G
c.1055G>C (p.Arg352Thr)
c.914G>C (p.Arg305Thr)
c.887G>C (p.Arg296Thr)
c.242G>C (p.Arg81Thr)
c.881G>C (p.Arg294Thr)
dbSNP
2g.115753227G=CA1281312532DPP10c.1004G= (p.Arg335=)
c.983G= (p.Arg328=)
c.1016G= (p.Arg339=)
c.854G= (p.Arg285=)
c.992G= (p.Arg331=)
c.752G= (p.Arg251=)
n.67+1508C=
c.1055G= (p.Arg352=)
c.914G= (p.Arg305=)
c.887G= (p.Arg296=)
c.242G= (p.Arg81=)
c.881G= (p.Arg294=)
2g.115753227G>TCA348323485DPP10c.1004G>T (p.Arg335Ile)
c.983G>T (p.Arg328Ile)
c.1016G>T (p.Arg339Ile)
c.854G>T (p.Arg285Ile)
c.992G>T (p.Arg331Ile)
c.752G>T (p.Arg251Ile)
n.67+1508C>A
c.1055G>T (p.Arg352Ile)
c.914G>T (p.Arg305Ile)
c.887G>T (p.Arg296Ile)
c.242G>T (p.Arg81Ile)
c.881G>T (p.Arg294Ile)
2g.115753228A>CCA348323486DPP10c.1005A>C (p.Arg335Ser)
c.984A>C (p.Arg328Ser)
c.1017A>C (p.Arg339Ser)
c.855A>C (p.Arg285Ser)
c.993A>C (p.Arg331Ser)
c.753A>C (p.Arg251Ser)
n.67+1507T>G
c.1056A>C (p.Arg352Ser)
c.915A>C (p.Arg305Ser)
c.888A>C (p.Arg296Ser)
c.243A>C (p.Arg81Ser)
c.882A>C (p.Arg294Ser)
2g.115753228A>GCA428354826DPP10c.1005A>G (p.Arg335=)
c.984A>G (p.Arg328=)
c.1017A>G (p.Arg339=)
c.855A>G (p.Arg285=)
c.993A>G (p.Arg331=)
c.753A>G (p.Arg251=)
n.67+1507T>C
c.1056A>G (p.Arg352=)
c.915A>G (p.Arg305=)
c.888A>G (p.Arg296=)
c.243A>G (p.Arg81=)
c.882A>G (p.Arg294=)
2g.115753228A>TCA348323487DPP10c.1005A>T (p.Arg335Ser)
c.984A>T (p.Arg328Ser)
c.1017A>T (p.Arg339Ser)
c.855A>T (p.Arg285Ser)
c.993A>T (p.Arg331Ser)
c.753A>T (p.Arg251Ser)
n.67+1507T>A
c.1056A>T (p.Arg352Ser)
c.915A>T (p.Arg305Ser)
c.888A>T (p.Arg296Ser)
c.243A>T (p.Arg81Ser)
c.882A>T (p.Arg294Ser)
2g.115753229T>ACA348323488DPP10c.1006T>A (p.Trp336Arg)
c.985T>A (p.Trp329Arg)
c.1018T>A (p.Trp340Arg)
c.856T>A (p.Trp286Arg)
c.994T>A (p.Trp332Arg)
c.754T>A (p.Trp252Arg)
n.67+1506A>T
c.1057T>A (p.Trp353Arg)
c.916T>A (p.Trp306Arg)
c.889T>A (p.Trp297Arg)
c.244T>A (p.Trp82Arg)
c.883T>A (p.Trp295Arg)
2g.115753229T>CCA348323489DPP10c.1006T>C (p.Trp336Arg)
c.985T>C (p.Trp329Arg)
c.1018T>C (p.Trp340Arg)
c.856T>C (p.Trp286Arg)
c.994T>C (p.Trp332Arg)
c.754T>C (p.Trp252Arg)
n.67+1506A>G
c.1057T>C (p.Trp353Arg)
c.916T>C (p.Trp306Arg)
c.889T>C (p.Trp297Arg)
c.244T>C (p.Trp82Arg)
c.883T>C (p.Trp295Arg)
2g.115753229T>GCA348323490DPP10c.1006T>G (p.Trp336Gly)
c.985T>G (p.Trp329Gly)
c.1018T>G (p.Trp340Gly)
c.856T>G (p.Trp286Gly)
c.994T>G (p.Trp332Gly)
c.754T>G (p.Trp252Gly)
n.67+1506A>C
c.1057T>G (p.Trp353Gly)
c.916T>G (p.Trp306Gly)
c.889T>G (p.Trp297Gly)
c.244T>G (p.Trp82Gly)
c.883T>G (p.Trp295Gly)
2g.115753230G>ACA348323491DPP10c.1007G>A (p.Trp336Ter)
c.986G>A (p.Trp329Ter)
c.1019G>A (p.Trp340Ter)
c.857G>A (p.Trp286Ter)
c.995G>A (p.Trp332Ter)
c.755G>A (p.Trp252Ter)
n.67+1505C>T
c.1058G>A (p.Trp353Ter)
c.917G>A (p.Trp306Ter)
c.890G>A (p.Trp297Ter)
c.245G>A (p.Trp82Ter)
c.884G>A (p.Trp295Ter)
2g.115753230G>CCA348323492DPP10c.1007G>C (p.Trp336Ser)
c.986G>C (p.Trp329Ser)
c.1019G>C (p.Trp340Ser)
c.857G>C (p.Trp286Ser)
c.995G>C (p.Trp332Ser)
c.755G>C (p.Trp252Ser)
n.67+1505C>G
c.1058G>C (p.Trp353Ser)
c.917G>C (p.Trp306Ser)
c.890G>C (p.Trp297Ser)
c.245G>C (p.Trp82Ser)
c.884G>C (p.Trp295Ser)
2g.115753230G>TCA348323493DPP10c.1007G>T (p.Trp336Leu)
c.986G>T (p.Trp329Leu)
c.1019G>T (p.Trp340Leu)
c.857G>T (p.Trp286Leu)
c.995G>T (p.Trp332Leu)
c.755G>T (p.Trp252Leu)
n.67+1505C>A
c.1058G>T (p.Trp353Leu)
c.917G>T (p.Trp306Leu)
c.890G>T (p.Trp297Leu)
c.245G>T (p.Trp82Leu)
c.884G>T (p.Trp295Leu)
2g.115753231G>ACA348323494DPP10c.1008G>A (p.Trp336Ter)
c.987G>A (p.Trp329Ter)
c.1020G>A (p.Trp340Ter)
c.858G>A (p.Trp286Ter)
c.996G>A (p.Trp332Ter)
c.756G>A (p.Trp252Ter)
n.67+1504C>T
c.1059G>A (p.Trp353Ter)
c.918G>A (p.Trp306Ter)
c.891G>A (p.Trp297Ter)
c.246G>A (p.Trp82Ter)
c.885G>A (p.Trp295Ter)
2g.115753231G>CCA348323495DPP10c.1008G>C (p.Trp336Cys)
c.987G>C (p.Trp329Cys)
c.1020G>C (p.Trp340Cys)
c.858G>C (p.Trp286Cys)
c.996G>C (p.Trp332Cys)
c.756G>C (p.Trp252Cys)
n.67+1504C>G
c.1059G>C (p.Trp353Cys)
c.918G>C (p.Trp306Cys)
c.891G>C (p.Trp297Cys)
c.246G>C (p.Trp82Cys)
c.885G>C (p.Trp295Cys)
2g.115753231G>TCA348323496DPP10c.1008G>T (p.Trp336Cys)
c.987G>T (p.Trp329Cys)
c.1020G>T (p.Trp340Cys)
c.858G>T (p.Trp286Cys)
c.996G>T (p.Trp332Cys)
c.756G>T (p.Trp252Cys)
n.67+1504C>A
c.1059G>T (p.Trp353Cys)
c.918G>T (p.Trp306Cys)
c.891G>T (p.Trp297Cys)
c.246G>T (p.Trp82Cys)
c.885G>T (p.Trp295Cys)
2g.115753232T>ACA348323497DPP10c.1009T>A (p.Leu337Ile)
c.988T>A (p.Leu330Ile)
c.1021T>A (p.Leu341Ile)
c.859T>A (p.Leu287Ile)
c.997T>A (p.Leu333Ile)
c.757T>A (p.Leu253Ile)
n.67+1503A>T
c.1060T>A (p.Leu354Ile)
c.919T>A (p.Leu307Ile)
c.892T>A (p.Leu298Ile)
c.247T>A (p.Leu83Ile)
c.886T>A (p.Leu296Ile)
2g.115753232T>CCA428354899DPP10c.1009T>C (p.Leu337=)
c.988T>C (p.Leu330=)
c.1021T>C (p.Leu341=)
c.859T>C (p.Leu287=)
c.997T>C (p.Leu333=)
c.757T>C (p.Leu253=)
n.67+1503A>G
c.1060T>C (p.Leu354=)
c.919T>C (p.Leu307=)
c.892T>C (p.Leu298=)
c.247T>C (p.Leu83=)
c.886T>C (p.Leu296=)
2g.115753232T>GCA348323498DPP10c.1009T>G (p.Leu337Val)
c.988T>G (p.Leu330Val)
c.1021T>G (p.Leu341Val)
c.859T>G (p.Leu287Val)
c.997T>G (p.Leu333Val)
c.757T>G (p.Leu253Val)
n.67+1503A>C
c.1060T>G (p.Leu354Val)
c.919T>G (p.Leu307Val)
c.892T>G (p.Leu298Val)
c.247T>G (p.Leu83Val)
c.886T>G (p.Leu296Val)
2g.115753233T>ACA348323499DPP10c.1010T>A (p.Leu337Ter)
c.989T>A (p.Leu330Ter)
c.1022T>A (p.Leu341Ter)
c.860T>A (p.Leu287Ter)
c.998T>A (p.Leu333Ter)
c.758T>A (p.Leu253Ter)
n.67+1502A>T
c.1061T>A (p.Leu354Ter)
c.920T>A (p.Leu307Ter)
c.893T>A (p.Leu298Ter)
c.248T>A (p.Leu83Ter)
c.887T>A (p.Leu296Ter)
2g.115753233T>CCA348323500DPP10c.1010T>C (p.Leu337Ser)
c.989T>C (p.Leu330Ser)
c.1022T>C (p.Leu341Ser)
c.860T>C (p.Leu287Ser)
c.998T>C (p.Leu333Ser)
c.758T>C (p.Leu253Ser)
n.67+1502A>G
c.1061T>C (p.Leu354Ser)
c.920T>C (p.Leu307Ser)
c.893T>C (p.Leu298Ser)
c.248T>C (p.Leu83Ser)
c.887T>C (p.Leu296Ser)
2g.115753233T>GCA348323501DPP10c.1010T>G (p.Leu337Ter)
c.989T>G (p.Leu330Ter)
c.1022T>G (p.Leu341Ter)
c.860T>G (p.Leu287Ter)
c.998T>G (p.Leu333Ter)
c.758T>G (p.Leu253Ter)
n.67+1502A>C
c.1061T>G (p.Leu354Ter)
c.920T>G (p.Leu307Ter)
c.893T>G (p.Leu298Ter)
c.248T>G (p.Leu83Ter)
c.887T>G (p.Leu296Ter)
2g.115753234A=CA1281312533DPP10c.1011A= (p.Leu337=)
c.990A= (p.Leu330=)
c.1023A= (p.Leu341=)
c.861A= (p.Leu287=)
c.999A= (p.Leu333=)
c.759A= (p.Leu253=)
n.67+1501T=
c.1062A= (p.Leu354=)
c.921A= (p.Leu307=)
c.894A= (p.Leu298=)
c.249A= (p.Leu83=)
c.888A= (p.Leu296=)
2g.115753234A>CCA1843062DPP10c.1011A>C (p.Leu337Phe)
c.990A>C (p.Leu330Phe)
c.1023A>C (p.Leu341Phe)
c.861A>C (p.Leu287Phe)
c.999A>C (p.Leu333Phe)
c.759A>C (p.Leu253Phe)
n.67+1501T>G
c.1062A>C (p.Leu354Phe)
c.921A>C (p.Leu307Phe)
c.894A>C (p.Leu298Phe)
c.249A>C (p.Leu83Phe)
c.888A>C (p.Leu296Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753234A>GCA428354913DPP10c.1011A>G (p.Leu337=)
c.990A>G (p.Leu330=)
c.1023A>G (p.Leu341=)
c.861A>G (p.Leu287=)
c.999A>G (p.Leu333=)
c.759A>G (p.Leu253=)
n.67+1501T>C
c.1062A>G (p.Leu354=)
c.921A>G (p.Leu307=)
c.894A>G (p.Leu298=)
c.249A>G (p.Leu83=)
c.888A>G (p.Leu296=)
2g.115753234A>TCA348323502DPP10c.1011A>T (p.Leu337Phe)
c.990A>T (p.Leu330Phe)
c.1023A>T (p.Leu341Phe)
c.861A>T (p.Leu287Phe)
c.999A>T (p.Leu333Phe)
c.759A>T (p.Leu253Phe)
n.67+1501T>A
c.1062A>T (p.Leu354Phe)
c.921A>T (p.Leu307Phe)
c.894A>T (p.Leu298Phe)
c.249A>T (p.Leu83Phe)
c.888A>T (p.Leu296Phe)
2g.115753235A>CCA348323503DPP10c.1012A>C (p.Asn338His)
c.991A>C (p.Asn331His)
c.1024A>C (p.Asn342His)
c.862A>C (p.Asn288His)
c.1000A>C (p.Asn334His)
c.760A>C (p.Asn254His)
n.67+1500T>G
c.1063A>C (p.Asn355His)
c.922A>C (p.Asn308His)
c.895A>C (p.Asn299His)
c.250A>C (p.Asn84His)
c.889A>C (p.Asn297His)
2g.115753235A>GCA348323504DPP10c.1012A>G (p.Asn338Asp)
c.991A>G (p.Asn331Asp)
c.1024A>G (p.Asn342Asp)
c.862A>G (p.Asn288Asp)
c.1000A>G (p.Asn334Asp)
c.760A>G (p.Asn254Asp)
n.67+1500T>C
c.1063A>G (p.Asn355Asp)
c.922A>G (p.Asn308Asp)
c.895A>G (p.Asn299Asp)
c.250A>G (p.Asn84Asp)
c.889A>G (p.Asn297Asp)
2g.115753235A>TCA348323505DPP10c.1012A>T (p.Asn338Tyr)
c.991A>T (p.Asn331Tyr)
c.1024A>T (p.Asn342Tyr)
c.862A>T (p.Asn288Tyr)
c.1000A>T (p.Asn334Tyr)
c.760A>T (p.Asn254Tyr)
n.67+1500T>A
c.1063A>T (p.Asn355Tyr)
c.922A>T (p.Asn308Tyr)
c.895A>T (p.Asn299Tyr)
c.250A>T (p.Asn84Tyr)
c.889A>T (p.Asn297Tyr)
2g.115753236A>CCA348323506DPP10c.1013A>C (p.Asn338Thr)
c.992A>C (p.Asn331Thr)
c.1025A>C (p.Asn342Thr)
c.863A>C (p.Asn288Thr)
c.1001A>C (p.Asn334Thr)
c.761A>C (p.Asn254Thr)
n.67+1499T>G
c.1064A>C (p.Asn355Thr)
c.923A>C (p.Asn308Thr)
c.896A>C (p.Asn299Thr)
c.251A>C (p.Asn84Thr)
c.890A>C (p.Asn297Thr)
2g.115753236A>GCA348323507DPP10c.1013A>G (p.Asn338Ser)
c.992A>G (p.Asn331Ser)
c.1025A>G (p.Asn342Ser)
c.863A>G (p.Asn288Ser)
c.1001A>G (p.Asn334Ser)
c.761A>G (p.Asn254Ser)
n.67+1499T>C
c.1064A>G (p.Asn355Ser)
c.923A>G (p.Asn308Ser)
c.896A>G (p.Asn299Ser)
c.251A>G (p.Asn84Ser)
c.890A>G (p.Asn297Ser)
2g.115753236A>TCA348323508DPP10c.1013A>T (p.Asn338Ile)
c.992A>T (p.Asn331Ile)
c.1025A>T (p.Asn342Ile)
c.863A>T (p.Asn288Ile)
c.1001A>T (p.Asn334Ile)
c.761A>T (p.Asn254Ile)
n.67+1499T>A
c.1064A>T (p.Asn355Ile)
c.923A>T (p.Asn308Ile)
c.896A>T (p.Asn299Ile)
c.251A>T (p.Asn84Ile)
c.890A>T (p.Asn297Ile)
2g.115753237C>ACA348323509DPP10c.1014C>A (p.Asn338Lys)
c.993C>A (p.Asn331Lys)
c.1026C>A (p.Asn342Lys)
c.864C>A (p.Asn288Lys)
c.1002C>A (p.Asn334Lys)
c.762C>A (p.Asn254Lys)
n.67+1498G>T
c.1065C>A (p.Asn355Lys)
c.924C>A (p.Asn308Lys)
c.897C>A (p.Asn299Lys)
c.252C>A (p.Asn84Lys)
c.891C>A (p.Asn297Lys)
2g.115753237C>GCA348323510DPP10c.1014C>G (p.Asn338Lys)
c.993C>G (p.Asn331Lys)
c.1026C>G (p.Asn342Lys)
c.864C>G (p.Asn288Lys)
c.1002C>G (p.Asn334Lys)
c.762C>G (p.Asn254Lys)
n.67+1498G>C
c.1065C>G (p.Asn355Lys)
c.924C>G (p.Asn308Lys)
c.897C>G (p.Asn299Lys)
c.252C>G (p.Asn84Lys)
c.891C>G (p.Asn297Lys)
2g.115753237C>TCA428354946DPP10c.1014C>T (p.Asn338=)
c.993C>T (p.Asn331=)
c.1026C>T (p.Asn342=)
c.864C>T (p.Asn288=)
c.1002C>T (p.Asn334=)
c.762C>T (p.Asn254=)
n.67+1498G>A
c.1065C>T (p.Asn355=)
c.924C>T (p.Asn308=)
c.897C>T (p.Asn299=)
c.252C>T (p.Asn84=)
c.891C>T (p.Asn297=)
COSMIC COSMIC
2g.115753237_115753238insAACA2700388636DPP10c.1014_1015insAA (p.Arg339AsnfsTer25)
c.993_994insAA (p.Arg332AsnfsTer25)
c.1026_1027insAA (p.Arg343AsnfsTer25)
c.864_865insAA (p.Arg289AsnfsTer25)
c.1002_1003insAA (p.Arg335AsnfsTer25)
c.762_763insAA (p.Arg255AsnfsTer25)
n.67+1497_67+1498insTT
c.1065_1066insAA (p.Arg356AsnfsTer25)
c.1014_1015insAA (p.Arg339AsnfsTer?)
c.924_925insAA (p.Arg309AsnfsTer25)
c.897_898insAA (p.Arg300AsnfsTer25)
c.252_253insAA (p.Arg85AsnfsTer25)
c.891_892insAA (p.Arg298AsnfsTer25)
c.993_994insAA (p.Arg332AsnfsTer?)
dbSNP
2g.115753238C>ACA428354954DPP10c.1015C>A (p.Arg339=)
c.994C>A (p.Arg332=)
c.1027C>A (p.Arg343=)
c.865C>A (p.Arg289=)
c.1003C>A (p.Arg335=)
c.763C>A (p.Arg255=)
n.67+1497G>T
c.1066C>A (p.Arg356=)
c.925C>A (p.Arg309=)
c.898C>A (p.Arg300=)
c.253C>A (p.Arg85=)
c.892C>A (p.Arg298=)
dbSNP gnomAD v4 COSMIC COSMIC
2g.115753238C>GCA348323511DPP10c.1015C>G (p.Arg339Gly)
c.994C>G (p.Arg332Gly)
c.1027C>G (p.Arg343Gly)
c.865C>G (p.Arg289Gly)
c.1003C>G (p.Arg335Gly)
c.763C>G (p.Arg255Gly)
n.67+1497G>C
c.1066C>G (p.Arg356Gly)
c.925C>G (p.Arg309Gly)
c.898C>G (p.Arg300Gly)
c.253C>G (p.Arg85Gly)
c.892C>G (p.Arg298Gly)
2g.115753238C>TCA348323512DPP10c.1015C>T (p.Arg339Ter)
c.994C>T (p.Arg332Ter)
c.1027C>T (p.Arg343Ter)
c.865C>T (p.Arg289Ter)
c.1003C>T (p.Arg335Ter)
c.763C>T (p.Arg255Ter)
n.67+1497G>A
c.1066C>T (p.Arg356Ter)
c.925C>T (p.Arg309Ter)
c.898C>T (p.Arg300Ter)
c.253C>T (p.Arg85Ter)
c.892C>T (p.Arg298Ter)
gnomAD v4 COSMIC COSMIC
2g.115753239G>ACA348323513DPP10c.1016G>A (p.Arg339Gln)
c.995G>A (p.Arg332Gln)
c.1028G>A (p.Arg343Gln)
c.866G>A (p.Arg289Gln)
c.1004G>A (p.Arg335Gln)
c.764G>A (p.Arg255Gln)
n.67+1496C>T
c.1067G>A (p.Arg356Gln)
c.926G>A (p.Arg309Gln)
c.899G>A (p.Arg300Gln)
c.254G>A (p.Arg85Gln)
c.893G>A (p.Arg298Gln)
dbSNP gnomAD v2 gnomAD v4
2g.115753239G>CCA348323514DPP10c.1016G>C (p.Arg339Pro)
c.995G>C (p.Arg332Pro)
c.1028G>C (p.Arg343Pro)
c.866G>C (p.Arg289Pro)
c.1004G>C (p.Arg335Pro)
c.764G>C (p.Arg255Pro)
n.67+1496C>G
c.1067G>C (p.Arg356Pro)
c.926G>C (p.Arg309Pro)
c.899G>C (p.Arg300Pro)
c.254G>C (p.Arg85Pro)
c.893G>C (p.Arg298Pro)
2g.115753239G=CA1281312534DPP10c.1016G= (p.Arg339=)
c.995G= (p.Arg332=)
c.1028G= (p.Arg343=)
c.866G= (p.Arg289=)
c.1004G= (p.Arg335=)
c.764G= (p.Arg255=)
n.67+1496C=
c.1067G= (p.Arg356=)
c.926G= (p.Arg309=)
c.899G= (p.Arg300=)
c.254G= (p.Arg85=)
c.893G= (p.Arg298=)
2g.115753239G>TCA348323515DPP10c.1016G>T (p.Arg339Leu)
c.995G>T (p.Arg332Leu)
c.1028G>T (p.Arg343Leu)
c.866G>T (p.Arg289Leu)
c.1004G>T (p.Arg335Leu)
c.764G>T (p.Arg255Leu)
n.67+1496C>A
c.1067G>T (p.Arg356Leu)
c.926G>T (p.Arg309Leu)
c.899G>T (p.Arg300Leu)
c.254G>T (p.Arg85Leu)
c.893G>T (p.Arg298Leu)
2g.115753239_115753241delCA2700388654DPP10c.1016_1018del (p.Arg339_Ala340delinsPro)
c.995_997del (p.Arg332_Ala333delinsPro)
c.1028_1030del (p.Arg343_Ala344delinsPro)
c.866_868del (p.Arg289_Ala290delinsPro)
c.1004_1006del (p.Arg335_Ala336delinsPro)
c.764_766del (p.Arg255_Ala256delinsPro)
n.67+1494_67+1496del
c.1067_1069del (p.Arg356_Ala357delinsPro)
c.926_928del (p.Arg309_Ala310delinsPro)
c.899_901del (p.Arg300_Ala301delinsPro)
c.254_256del (p.Arg85_Ala86delinsPro)
c.893_895del (p.Arg298_Ala299delinsPro)
dbSNP
2g.115753240A>CCA428354982DPP10c.1017A>C (p.Arg339=)
c.996A>C (p.Arg332=)
c.1029A>C (p.Arg343=)
c.867A>C (p.Arg289=)
c.1005A>C (p.Arg335=)
c.765A>C (p.Arg255=)
n.67+1495T>G
c.1068A>C (p.Arg356=)
c.927A>C (p.Arg309=)
c.900A>C (p.Arg300=)
c.255A>C (p.Arg85=)
c.894A>C (p.Arg298=)
2g.115753240A>GCA428354987DPP10c.1017A>G (p.Arg339=)
c.996A>G (p.Arg332=)
c.1029A>G (p.Arg343=)
c.867A>G (p.Arg289=)
c.1005A>G (p.Arg335=)
c.765A>G (p.Arg255=)
n.67+1495T>C
c.1068A>G (p.Arg356=)
c.927A>G (p.Arg309=)
c.900A>G (p.Arg300=)
c.255A>G (p.Arg85=)
c.894A>G (p.Arg298=)
2g.115753240A>TCA428354992DPP10c.1017A>T (p.Arg339=)
c.996A>T (p.Arg332=)
c.1029A>T (p.Arg343=)
c.867A>T (p.Arg289=)
c.1005A>T (p.Arg335=)
c.765A>T (p.Arg255=)
n.67+1495T>A
c.1068A>T (p.Arg356=)
c.927A>T (p.Arg309=)
c.900A>T (p.Arg300=)
c.255A>T (p.Arg85=)
c.894A>T (p.Arg298=)
2g.115753241G>ACA348323516DPP10c.1018G>A (p.Ala340Thr)
c.997G>A (p.Ala333Thr)
c.1030G>A (p.Ala344Thr)
c.868G>A (p.Ala290Thr)
c.1006G>A (p.Ala336Thr)
c.766G>A (p.Ala256Thr)
n.67+1494C>T
c.1069G>A (p.Ala357Thr)
c.928G>A (p.Ala310Thr)
c.901G>A (p.Ala301Thr)
c.256G>A (p.Ala86Thr)
c.895G>A (p.Ala299Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.115753241G>CCA1843063DPP10c.1018G>C (p.Ala340Pro)
c.997G>C (p.Ala333Pro)
c.1030G>C (p.Ala344Pro)
c.868G>C (p.Ala290Pro)
c.1006G>C (p.Ala336Pro)
c.766G>C (p.Ala256Pro)
n.67+1494C>G
c.1069G>C (p.Ala357Pro)
c.928G>C (p.Ala310Pro)
c.901G>C (p.Ala301Pro)
c.256G>C (p.Ala86Pro)
c.895G>C (p.Ala299Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753241G=CA1281312535DPP10c.1018G= (p.Ala340=)
c.997G= (p.Ala333=)
c.1030G= (p.Ala344=)
c.868G= (p.Ala290=)
c.1006G= (p.Ala336=)
c.766G= (p.Ala256=)
n.67+1494C=
c.1069G= (p.Ala357=)
c.928G= (p.Ala310=)
c.901G= (p.Ala301=)
c.256G= (p.Ala86=)
c.895G= (p.Ala299=)
2g.115753241G>TCA348323517DPP10c.1018G>T (p.Ala340Ser)
c.997G>T (p.Ala333Ser)
c.1030G>T (p.Ala344Ser)
c.868G>T (p.Ala290Ser)
c.1006G>T (p.Ala336Ser)
c.766G>T (p.Ala256Ser)
n.67+1494C>A
c.1069G>T (p.Ala357Ser)
c.928G>T (p.Ala310Ser)
c.901G>T (p.Ala301Ser)
c.256G>T (p.Ala86Ser)
c.895G>T (p.Ala299Ser)
dbSNP gnomAD v2 gnomAD v4
2g.115753242C>ACA348323518DPP10c.1019C>A (p.Ala340Asp)
c.998C>A (p.Ala333Asp)
c.1031C>A (p.Ala344Asp)
c.869C>A (p.Ala290Asp)
c.1007C>A (p.Ala336Asp)
c.767C>A (p.Ala256Asp)
n.67+1493G>T
c.1070C>A (p.Ala357Asp)
c.929C>A (p.Ala310Asp)
c.902C>A (p.Ala301Asp)
c.257C>A (p.Ala86Asp)
c.896C>A (p.Ala299Asp)
2g.115753242C>GCA348323519DPP10c.1019C>G (p.Ala340Gly)
c.998C>G (p.Ala333Gly)
c.1031C>G (p.Ala344Gly)
c.869C>G (p.Ala290Gly)
c.1007C>G (p.Ala336Gly)
c.767C>G (p.Ala256Gly)
n.67+1493G>C
c.1070C>G (p.Ala357Gly)
c.929C>G (p.Ala310Gly)
c.902C>G (p.Ala301Gly)
c.257C>G (p.Ala86Gly)
c.896C>G (p.Ala299Gly)
gnomAD v4
2g.115753242C>TCA348323520DPP10c.1019C>T (p.Ala340Val)
c.998C>T (p.Ala333Val)
c.1031C>T (p.Ala344Val)
c.869C>T (p.Ala290Val)
c.1007C>T (p.Ala336Val)
c.767C>T (p.Ala256Val)
n.67+1493G>A
c.1070C>T (p.Ala357Val)
c.929C>T (p.Ala310Val)
c.902C>T (p.Ala301Val)
c.257C>T (p.Ala86Val)
c.896C>T (p.Ala299Val)
gnomAD v4
2g.115753242_115753250delCA2660826735DPP10c.1019_1027del (p.Ala340_Ile343delinsVal)
c.998_1006del (p.Ala333_Ile336delinsVal)
c.1031_1039del (p.Ala344_Ile347delinsVal)
c.869_877del (p.Ala290_Ile293delinsVal)
c.1007_1015del (p.Ala336_Ile339delinsVal)
c.767_775del (p.Ala256_Ile259delinsVal)
n.67+1485_67+1493del
c.1070_1078del (p.Ala357_Ile360delinsVal)
c.929_937del (p.Ala310_Ile313delinsVal)
c.902_910del (p.Ala301_Ile304delinsVal)
c.257_265del (p.Ala86_Ile89delinsVal)
c.896_904del (p.Ala299_Ile302delinsVal)
gnomAD v4
2g.115753243T>ACA428355019DPP10c.1020T>A (p.Ala340=)
c.999T>A (p.Ala333=)
c.1032T>A (p.Ala344=)
c.870T>A (p.Ala290=)
c.1008T>A (p.Ala336=)
c.768T>A (p.Ala256=)
n.67+1492A>T
c.1071T>A (p.Ala357=)
c.930T>A (p.Ala310=)
c.903T>A (p.Ala301=)
c.258T>A (p.Ala86=)
c.897T>A (p.Ala299=)
2g.115753243T>CCA428355018DPP10c.1020T>C (p.Ala340=)
c.999T>C (p.Ala333=)
c.1032T>C (p.Ala344=)
c.870T>C (p.Ala290=)
c.1008T>C (p.Ala336=)
c.768T>C (p.Ala256=)
n.67+1492A>G
c.1071T>C (p.Ala357=)
c.930T>C (p.Ala310=)
c.903T>C (p.Ala301=)
c.258T>C (p.Ala86=)
c.897T>C (p.Ala299=)
2g.115753243T>GCA1843064DPP10c.1020T>G (p.Ala340=)
c.999T>G (p.Ala333=)
c.1032T>G (p.Ala344=)
c.870T>G (p.Ala290=)
c.1008T>G (p.Ala336=)
c.768T>G (p.Ala256=)
n.67+1492A>C
c.1071T>G (p.Ala357=)
c.930T>G (p.Ala310=)
c.903T>G (p.Ala301=)
c.258T>G (p.Ala86=)
c.897T>G (p.Ala299=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.115753243T=CA1281312536DPP10c.1020T= (p.Ala340=)
c.999T= (p.Ala333=)
c.1032T= (p.Ala344=)
c.870T= (p.Ala290=)
c.1008T= (p.Ala336=)
c.768T= (p.Ala256=)
n.67+1492A=
c.1071T= (p.Ala357=)
c.930T= (p.Ala310=)
c.903T= (p.Ala301=)
c.258T= (p.Ala86=)
c.897T= (p.Ala299=)
2g.115753244C>ACA348323521DPP10c.1021C>A (p.Gln341Lys)
c.1000C>A (p.Gln334Lys)
c.1033C>A (p.Gln345Lys)
c.871C>A (p.Gln291Lys)
c.1009C>A (p.Gln337Lys)
c.769C>A (p.Gln257Lys)
n.67+1491G>T
c.1072C>A (p.Gln358Lys)
c.931C>A (p.Gln311Lys)
c.904C>A (p.Gln302Lys)
c.259C>A (p.Gln87Lys)
c.898C>A (p.Gln300Lys)
COSMIC COSMIC
2g.115753244C>GCA348323522DPP10c.1021C>G (p.Gln341Glu)
c.1000C>G (p.Gln334Glu)
c.1033C>G (p.Gln345Glu)
c.871C>G (p.Gln291Glu)
c.1009C>G (p.Gln337Glu)
c.769C>G (p.Gln257Glu)
n.67+1491G>C
c.1072C>G (p.Gln358Glu)
c.931C>G (p.Gln311Glu)
c.904C>G (p.Gln302Glu)
c.259C>G (p.Gln87Glu)
c.898C>G (p.Gln300Glu)
2g.115753244C>TCA348323523DPP10c.1021C>T (p.Gln341Ter)
c.1000C>T (p.Gln334Ter)
c.1033C>T (p.Gln345Ter)
c.871C>T (p.Gln291Ter)
c.1009C>T (p.Gln337Ter)
c.769C>T (p.Gln257Ter)
n.67+1491G>A
c.1072C>T (p.Gln358Ter)
c.931C>T (p.Gln311Ter)
c.904C>T (p.Gln302Ter)
c.259C>T (p.Gln87Ter)
c.898C>T (p.Gln300Ter)
2g.115753245A>CCA348323525DPP10c.1022A>C (p.Gln341Pro)
c.1001A>C (p.Gln334Pro)
c.1034A>C (p.Gln345Pro)
c.872A>C (p.Gln291Pro)
c.1010A>C (p.Gln337Pro)
c.770A>C (p.Gln257Pro)
n.67+1490T>G
c.1073A>C (p.Gln358Pro)
c.932A>C (p.Gln311Pro)
c.905A>C (p.Gln302Pro)
c.260A>C (p.Gln87Pro)
c.899A>C (p.Gln300Pro)
2g.115753245A>GCA348323526DPP10c.1022A>G (p.Gln341Arg)
c.1001A>G (p.Gln334Arg)
c.1034A>G (p.Gln345Arg)
c.872A>G (p.Gln291Arg)
c.1010A>G (p.Gln337Arg)
c.770A>G (p.Gln257Arg)
n.67+1490T>C
c.1073A>G (p.Gln358Arg)
c.932A>G (p.Gln311Arg)
c.905A>G (p.Gln302Arg)
c.260A>G (p.Gln87Arg)
c.899A>G (p.Gln300Arg)
2g.115753245A>TCA348323524DPP10c.1022A>T (p.Gln341Leu)
c.1001A>T (p.Gln334Leu)
c.1034A>T (p.Gln345Leu)
c.872A>T (p.Gln291Leu)
c.1010A>T (p.Gln337Leu)
c.770A>T (p.Gln257Leu)
n.67+1490T>A
c.1073A>T (p.Gln358Leu)
c.932A>T (p.Gln311Leu)
c.905A>T (p.Gln302Leu)
c.260A>T (p.Gln87Leu)
c.899A>T (p.Gln300Leu)
2g.115753246G>ACA428355051DPP10c.1023G>A (p.Gln341=)
c.1002G>A (p.Gln334=)
c.1035G>A (p.Gln345=)
c.873G>A (p.Gln291=)
c.1011G>A (p.Gln337=)
c.771G>A (p.Gln257=)
n.67+1489C>T
c.1074G>A (p.Gln358=)
c.933G>A (p.Gln311=)
c.906G>A (p.Gln302=)
c.261G>A (p.Gln87=)
c.900G>A (p.Gln300=)
gnomAD v4
2g.115753246G>CCA348323527DPP10c.1023G>C (p.Gln341His)
c.1002G>C (p.Gln334His)
c.1035G>C (p.Gln345His)
c.873G>C (p.Gln291His)
c.1011G>C (p.Gln337His)
c.771G>C (p.Gln257His)
n.67+1489C>G
c.1074G>C (p.Gln358His)
c.933G>C (p.Gln311His)
c.906G>C (p.Gln302His)
c.261G>C (p.Gln87His)
c.900G>C (p.Gln300His)
gnomAD v4
2g.115753246G>TCA348323528DPP10c.1023G>T (p.Gln341His)
c.1002G>T (p.Gln334His)
c.1035G>T (p.Gln345His)
c.873G>T (p.Gln291His)
c.1011G>T (p.Gln337His)
c.771G>T (p.Gln257His)
n.67+1489C>A
c.1074G>T (p.Gln358His)
c.933G>T (p.Gln311His)
c.906G>T (p.Gln302His)
c.261G>T (p.Gln87His)
c.900G>T (p.Gln300His)
gnomAD v4
2g.115753247A>CCA348323529DPP10c.1024A>C (p.Asn342His)
c.1003A>C (p.Asn335His)
c.1036A>C (p.Asn346His)
c.874A>C (p.Asn292His)
c.1012A>C (p.Asn338His)
c.772A>C (p.Asn258His)
n.67+1488T>G
c.1075A>C (p.Asn359His)
c.934A>C (p.Asn312His)
c.907A>C (p.Asn303His)
c.262A>C (p.Asn88His)
c.901A>C (p.Asn301His)
2g.115753247A>GCA348323530DPP10c.1024A>G (p.Asn342Asp)
c.1003A>G (p.Asn335Asp)
c.1036A>G (p.Asn346Asp)
c.874A>G (p.Asn292Asp)
c.1012A>G (p.Asn338Asp)
c.772A>G (p.Asn258Asp)
n.67+1488T>C
c.1075A>G (p.Asn359Asp)
c.934A>G (p.Asn312Asp)
c.907A>G (p.Asn303Asp)
c.262A>G (p.Asn88Asp)
c.901A>G (p.Asn301Asp)
gnomAD v4
2g.115753247A>TCA348323531DPP10c.1024A>T (p.Asn342Tyr)
c.1003A>T (p.Asn335Tyr)
c.1036A>T (p.Asn346Tyr)
c.874A>T (p.Asn292Tyr)
c.1012A>T (p.Asn338Tyr)
c.772A>T (p.Asn258Tyr)
n.67+1488T>A
c.1075A>T (p.Asn359Tyr)
c.934A>T (p.Asn312Tyr)
c.907A>T (p.Asn303Tyr)
c.262A>T (p.Asn88Tyr)
c.901A>T (p.Asn301Tyr)
dbSNP
2g.115753248A>CCA348323534DPP10c.1025A>C (p.Asn342Thr)
c.1004A>C (p.Asn335Thr)
c.1037A>C (p.Asn346Thr)
c.875A>C (p.Asn292Thr)
c.1013A>C (p.Asn338Thr)
c.773A>C (p.Asn258Thr)
n.67+1487T>G
c.1076A>C (p.Asn359Thr)
c.935A>C (p.Asn312Thr)
c.908A>C (p.Asn303Thr)
c.263A>C (p.Asn88Thr)
c.902A>C (p.Asn301Thr)
2g.115753248A>GCA348323532DPP10c.1025A>G (p.Asn342Ser)
c.1004A>G (p.Asn335Ser)
c.1037A>G (p.Asn346Ser)
c.875A>G (p.Asn292Ser)
c.1013A>G (p.Asn338Ser)
c.773A>G (p.Asn258Ser)
n.67+1487T>C
c.1076A>G (p.Asn359Ser)
c.935A>G (p.Asn312Ser)
c.908A>G (p.Asn303Ser)
c.263A>G (p.Asn88Ser)
c.902A>G (p.Asn301Ser)
2g.115753248A>TCA348323533DPP10c.1025A>T (p.Asn342Ile)
c.1004A>T (p.Asn335Ile)
c.1037A>T (p.Asn346Ile)
c.875A>T (p.Asn292Ile)
c.1013A>T (p.Asn338Ile)
c.773A>T (p.Asn258Ile)
n.67+1487T>A
c.1076A>T (p.Asn359Ile)
c.935A>T (p.Asn312Ile)
c.908A>T (p.Asn303Ile)
c.263A>T (p.Asn88Ile)
c.902A>T (p.Asn301Ile)
2g.115753249C>ACA348323535DPP10c.1026C>A (p.Asn342Lys)
c.1005C>A (p.Asn335Lys)
c.1038C>A (p.Asn346Lys)
c.876C>A (p.Asn292Lys)
c.1014C>A (p.Asn338Lys)
c.774C>A (p.Asn258Lys)
n.67+1486G>T
c.1077C>A (p.Asn359Lys)
c.936C>A (p.Asn312Lys)
c.909C>A (p.Asn303Lys)
c.264C>A (p.Asn88Lys)
c.903C>A (p.Asn301Lys)
dbSNP
2g.115753249C=CA1281312537DPP10c.1026C= (p.Asn342=)
c.1005C= (p.Asn335=)
c.1038C= (p.Asn346=)
c.876C= (p.Asn292=)
c.1014C= (p.Asn338=)
c.774C= (p.Asn258=)
n.67+1486G=
c.1077C= (p.Asn359=)
c.936C= (p.Asn312=)
c.909C= (p.Asn303=)
c.264C= (p.Asn88=)
c.903C= (p.Asn301=)
2g.115753249C>GCA348323536DPP10c.1026C>G (p.Asn342Lys)
c.1005C>G (p.Asn335Lys)
c.1038C>G (p.Asn346Lys)
c.876C>G (p.Asn292Lys)
c.1014C>G (p.Asn338Lys)
c.774C>G (p.Asn258Lys)
n.67+1486G>C
c.1077C>G (p.Asn359Lys)
c.936C>G (p.Asn312Lys)
c.909C>G (p.Asn303Lys)
c.264C>G (p.Asn88Lys)
c.903C>G (p.Asn301Lys)
2g.115753249C>TCA428355080DPP10c.1026C>T (p.Asn342=)
c.1005C>T (p.Asn335=)
c.1038C>T (p.Asn346=)
c.876C>T (p.Asn292=)
c.1014C>T (p.Asn338=)
c.774C>T (p.Asn258=)
n.67+1486G>A
c.1077C>T (p.Asn359=)
c.936C>T (p.Asn312=)
c.909C>T (p.Asn303=)
c.264C>T (p.Asn88=)
c.903C>T (p.Asn301=)
2g.115753250A=CA1281312538DPP10c.1027A= (p.Ile343=)
c.1006A= (p.Ile336=)
c.1039A= (p.Ile347=)
c.877A= (p.Ile293=)
c.1015A= (p.Ile339=)
c.775A= (p.Ile259=)
n.67+1485T=
c.1078A= (p.Ile360=)
c.937A= (p.Ile313=)
c.910A= (p.Ile304=)
c.265A= (p.Ile89=)
c.904A= (p.Ile302=)
2g.115753250A>CCA348323537DPP10c.1027A>C (p.Ile343Leu)
c.1006A>C (p.Ile336Leu)
c.1039A>C (p.Ile347Leu)
c.877A>C (p.Ile293Leu)
c.1015A>C (p.Ile339Leu)
c.775A>C (p.Ile259Leu)
n.67+1485T>G
c.1078A>C (p.Ile360Leu)
c.937A>C (p.Ile313Leu)
c.910A>C (p.Ile304Leu)
c.265A>C (p.Ile89Leu)
c.904A>C (p.Ile302Leu)
2g.115753250A>GCA1843065DPP10c.1027A>G (p.Ile343Val)
c.1006A>G (p.Ile336Val)
c.1039A>G (p.Ile347Val)
c.877A>G (p.Ile293Val)
c.1015A>G (p.Ile339Val)
c.775A>G (p.Ile259Val)
n.67+1485T>C
c.1078A>G (p.Ile360Val)
c.937A>G (p.Ile313Val)
c.910A>G (p.Ile304Val)
c.265A>G (p.Ile89Val)
c.904A>G (p.Ile302Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753250A>TCA348323538DPP10c.1027A>T (p.Ile343Phe)
c.1006A>T (p.Ile336Phe)
c.1039A>T (p.Ile347Phe)
c.877A>T (p.Ile293Phe)
c.1015A>T (p.Ile339Phe)
c.775A>T (p.Ile259Phe)
n.67+1485T>A
c.1078A>T (p.Ile360Phe)
c.937A>T (p.Ile313Phe)
c.910A>T (p.Ile304Phe)
c.265A>T (p.Ile89Phe)
c.904A>T (p.Ile302Phe)
2g.115753251T>ACA348323541DPP10c.1028T>A (p.Ile343Asn)
c.1007T>A (p.Ile336Asn)
c.1040T>A (p.Ile347Asn)
c.878T>A (p.Ile293Asn)
c.1016T>A (p.Ile339Asn)
c.776T>A (p.Ile259Asn)
n.67+1484A>T
c.1079T>A (p.Ile360Asn)
c.938T>A (p.Ile313Asn)
c.911T>A (p.Ile304Asn)
c.266T>A (p.Ile89Asn)
c.905T>A (p.Ile302Asn)
2g.115753251T>CCA348323539DPP10c.1028T>C (p.Ile343Thr)
c.1007T>C (p.Ile336Thr)
c.1040T>C (p.Ile347Thr)
c.878T>C (p.Ile293Thr)
c.1016T>C (p.Ile339Thr)
c.776T>C (p.Ile259Thr)
n.67+1484A>G
c.1079T>C (p.Ile360Thr)
c.938T>C (p.Ile313Thr)
c.911T>C (p.Ile304Thr)
c.266T>C (p.Ile89Thr)
c.905T>C (p.Ile302Thr)
2g.115753251T>GCA348323540DPP10c.1028T>G (p.Ile343Ser)
c.1007T>G (p.Ile336Ser)
c.1040T>G (p.Ile347Ser)
c.878T>G (p.Ile293Ser)
c.1016T>G (p.Ile339Ser)
c.776T>G (p.Ile259Ser)
n.67+1484A>C
c.1079T>G (p.Ile360Ser)
c.938T>G (p.Ile313Ser)
c.911T>G (p.Ile304Ser)
c.266T>G (p.Ile89Ser)
c.905T>G (p.Ile302Ser)
2g.115753252C>ACA428355101DPP10c.1029C>A (p.Ile343=)
c.1008C>A (p.Ile336=)
c.1041C>A (p.Ile347=)
c.879C>A (p.Ile293=)
c.1017C>A (p.Ile339=)
c.777C>A (p.Ile259=)
n.67+1483G>T
c.1080C>A (p.Ile360=)
c.939C>A (p.Ile313=)
c.912C>A (p.Ile304=)
c.267C>A (p.Ile89=)
c.906C>A (p.Ile302=)
2g.115753252C=CA1281312539DPP10c.1029C= (p.Ile343=)
c.1008C= (p.Ile336=)
c.1041C= (p.Ile347=)
c.879C= (p.Ile293=)
c.1017C= (p.Ile339=)
c.777C= (p.Ile259=)
n.67+1483G=
c.1080C= (p.Ile360=)
c.939C= (p.Ile313=)
c.912C= (p.Ile304=)
c.267C= (p.Ile89=)
c.906C= (p.Ile302=)
2g.115753252C>GCA348323542DPP10c.1029C>G (p.Ile343Met)
c.1008C>G (p.Ile336Met)
c.1041C>G (p.Ile347Met)
c.879C>G (p.Ile293Met)
c.1017C>G (p.Ile339Met)
c.777C>G (p.Ile259Met)
n.67+1483G>C
c.1080C>G (p.Ile360Met)
c.939C>G (p.Ile313Met)
c.912C>G (p.Ile304Met)
c.267C>G (p.Ile89Met)
c.906C>G (p.Ile302Met)
2g.115753252C>TCA428355124DPP10c.1029C>T (p.Ile343=)
c.1008C>T (p.Ile336=)
c.1041C>T (p.Ile347=)
c.879C>T (p.Ile293=)
c.1017C>T (p.Ile339=)
c.777C>T (p.Ile259=)
n.67+1483G>A
c.1080C>T (p.Ile360=)
c.939C>T (p.Ile313=)
c.912C>T (p.Ile304=)
c.267C>T (p.Ile89=)
c.906C>T (p.Ile302=)
dbSNP gnomAD v4
2g.115753253T>ACA348323543DPP10c.1030T>A (p.Ser344Thr)
c.1009T>A (p.Ser337Thr)
c.1042T>A (p.Ser348Thr)
c.880T>A (p.Ser294Thr)
c.1018T>A (p.Ser340Thr)
c.778T>A (p.Ser260Thr)
n.67+1482A>T
c.1081T>A (p.Ser361Thr)
c.940T>A (p.Ser314Thr)
c.913T>A (p.Ser305Thr)
c.268T>A (p.Ser90Thr)
c.907T>A (p.Ser303Thr)
2g.115753253T>CCA348323544DPP10c.1030T>C (p.Ser344Pro)
c.1009T>C (p.Ser337Pro)
c.1042T>C (p.Ser348Pro)
c.880T>C (p.Ser294Pro)
c.1018T>C (p.Ser340Pro)
c.778T>C (p.Ser260Pro)
n.67+1482A>G
c.1081T>C (p.Ser361Pro)
c.940T>C (p.Ser314Pro)
c.913T>C (p.Ser305Pro)
c.268T>C (p.Ser90Pro)
c.907T>C (p.Ser303Pro)
2g.115753253T>GCA348323545DPP10c.1030T>G (p.Ser344Ala)
c.1009T>G (p.Ser337Ala)
c.1042T>G (p.Ser348Ala)
c.880T>G (p.Ser294Ala)
c.1018T>G (p.Ser340Ala)
c.778T>G (p.Ser260Ala)
n.67+1482A>C
c.1081T>G (p.Ser361Ala)
c.940T>G (p.Ser314Ala)
c.913T>G (p.Ser305Ala)
c.268T>G (p.Ser90Ala)
c.907T>G (p.Ser303Ala)
2g.115753254C>ACA348323546DPP10c.1031C>A (p.Ser344Tyr)
c.1010C>A (p.Ser337Tyr)
c.1043C>A (p.Ser348Tyr)
c.881C>A (p.Ser294Tyr)
c.1019C>A (p.Ser340Tyr)
c.779C>A (p.Ser260Tyr)
n.67+1481G>T
c.1082C>A (p.Ser361Tyr)
c.941C>A (p.Ser314Tyr)
c.914C>A (p.Ser305Tyr)
c.269C>A (p.Ser90Tyr)
c.908C>A (p.Ser303Tyr)
2g.115753254C=CA1281312540DPP10c.1031C= (p.Ser344=)
c.1010C= (p.Ser337=)
c.1043C= (p.Ser348=)
c.881C= (p.Ser294=)
c.1019C= (p.Ser340=)
c.779C= (p.Ser260=)
n.67+1481G=
c.1082C= (p.Ser361=)
c.941C= (p.Ser314=)
c.914C= (p.Ser305=)
c.269C= (p.Ser90=)
c.908C= (p.Ser303=)
2g.115753254C>GCA1843066DPP10c.1031C>G (p.Ser344Cys)
c.1010C>G (p.Ser337Cys)
c.1043C>G (p.Ser348Cys)
c.881C>G (p.Ser294Cys)
c.1019C>G (p.Ser340Cys)
c.779C>G (p.Ser260Cys)
n.67+1481G>C
c.1082C>G (p.Ser361Cys)
c.941C>G (p.Ser314Cys)
c.914C>G (p.Ser305Cys)
c.269C>G (p.Ser90Cys)
c.908C>G (p.Ser303Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.115753254C>TCA348323547DPP10c.1031C>T (p.Ser344Phe)
c.1010C>T (p.Ser337Phe)
c.1043C>T (p.Ser348Phe)
c.881C>T (p.Ser294Phe)
c.1019C>T (p.Ser340Phe)
c.779C>T (p.Ser260Phe)
n.67+1481G>A
c.1082C>T (p.Ser361Phe)
c.941C>T (p.Ser314Phe)
c.914C>T (p.Ser305Phe)
c.269C>T (p.Ser90Phe)
c.908C>T (p.Ser303Phe)
2g.115753255C>ACA428355148DPP10c.1032C>A (p.Ser344=)
c.1011C>A (p.Ser337=)
c.1044C>A (p.Ser348=)
c.882C>A (p.Ser294=)
c.1020C>A (p.Ser340=)
c.780C>A (p.Ser260=)
n.67+1480G>T
c.1083C>A (p.Ser361=)
c.942C>A (p.Ser314=)
c.915C>A (p.Ser305=)
c.270C>A (p.Ser90=)
c.909C>A (p.Ser303=)
2g.115753255C=CA1281312541DPP10c.1032C= (p.Ser344=)
c.1011C= (p.Ser337=)
c.1044C= (p.Ser348=)
c.882C= (p.Ser294=)
c.1020C= (p.Ser340=)
c.780C= (p.Ser260=)
n.67+1480G=
c.1083C= (p.Ser361=)
c.942C= (p.Ser314=)
c.915C= (p.Ser305=)
c.270C= (p.Ser90=)
c.909C= (p.Ser303=)
2g.115753255C>GCA428355150DPP10c.1032C>G (p.Ser344=)
c.1011C>G (p.Ser337=)
c.1044C>G (p.Ser348=)
c.882C>G (p.Ser294=)
c.1020C>G (p.Ser340=)
c.780C>G (p.Ser260=)
n.67+1480G>C
c.1083C>G (p.Ser361=)
c.942C>G (p.Ser314=)
c.915C>G (p.Ser305=)
c.270C>G (p.Ser90=)
c.909C>G (p.Ser303=)
2g.115753255C>TCA428355153DPP10c.1032C>T (p.Ser344=)
c.1011C>T (p.Ser337=)
c.1044C>T (p.Ser348=)
c.882C>T (p.Ser294=)
c.1020C>T (p.Ser340=)
c.780C>T (p.Ser260=)
n.67+1480G>A
c.1083C>T (p.Ser361=)
c.942C>T (p.Ser314=)
c.915C>T (p.Ser305=)
c.270C>T (p.Ser90=)
c.909C>T (p.Ser303=)
dbSNP gnomAD v3 gnomAD v4
2g.115753256A=CA1281312542DPP10c.1033A= (p.Ile345=)
c.1012A= (p.Ile338=)
c.1045A= (p.Ile349=)
c.883A= (p.Ile295=)
c.1021A= (p.Ile341=)
c.781A= (p.Ile261=)
n.67+1479T=
c.1084A= (p.Ile362=)
c.943A= (p.Ile315=)
c.916A= (p.Ile306=)
c.271A= (p.Ile91=)
c.910A= (p.Ile304=)
2g.115753256A>CCA348323548DPP10c.1033A>C (p.Ile345Leu)
c.1012A>C (p.Ile338Leu)
c.1045A>C (p.Ile349Leu)
c.883A>C (p.Ile295Leu)
c.1021A>C (p.Ile341Leu)
c.781A>C (p.Ile261Leu)
n.67+1479T>G
c.1084A>C (p.Ile362Leu)
c.943A>C (p.Ile315Leu)
c.916A>C (p.Ile306Leu)
c.271A>C (p.Ile91Leu)
c.910A>C (p.Ile304Leu)
gnomAD v4
2g.115753256A>GCA348323550DPP10c.1033A>G (p.Ile345Val)
c.1012A>G (p.Ile338Val)
c.1045A>G (p.Ile349Val)
c.883A>G (p.Ile295Val)
c.1021A>G (p.Ile341Val)
c.781A>G (p.Ile261Val)
n.67+1479T>C
c.1084A>G (p.Ile362Val)
c.943A>G (p.Ile315Val)
c.916A>G (p.Ile306Val)
c.271A>G (p.Ile91Val)
c.910A>G (p.Ile304Val)
dbSNP gnomAD v4
2g.115753256A>TCA348323549DPP10c.1033A>T (p.Ile345Phe)
c.1012A>T (p.Ile338Phe)
c.1045A>T (p.Ile349Phe)
c.883A>T (p.Ile295Phe)
c.1021A>T (p.Ile341Phe)
c.781A>T (p.Ile261Phe)
n.67+1479T>A
c.1084A>T (p.Ile362Phe)
c.943A>T (p.Ile315Phe)
c.916A>T (p.Ile306Phe)
c.271A>T (p.Ile91Phe)
c.910A>T (p.Ile304Phe)
2g.115753257T>ACA348323551DPP10c.1034T>A (p.Ile345Asn)
c.1013T>A (p.Ile338Asn)
c.1046T>A (p.Ile349Asn)
c.884T>A (p.Ile295Asn)
c.1022T>A (p.Ile341Asn)
c.782T>A (p.Ile261Asn)
n.67+1478A>T
c.1085T>A (p.Ile362Asn)
c.944T>A (p.Ile315Asn)
c.917T>A (p.Ile306Asn)
c.272T>A (p.Ile91Asn)
c.911T>A (p.Ile304Asn)
2g.115753257T>CCA348323552DPP10c.1034T>C (p.Ile345Thr)
c.1013T>C (p.Ile338Thr)
c.1046T>C (p.Ile349Thr)
c.884T>C (p.Ile295Thr)
c.1022T>C (p.Ile341Thr)
c.782T>C (p.Ile261Thr)
n.67+1478A>G
c.1085T>C (p.Ile362Thr)
c.944T>C (p.Ile315Thr)
c.917T>C (p.Ile306Thr)
c.272T>C (p.Ile91Thr)
c.911T>C (p.Ile304Thr)
2g.115753257T>GCA348323553DPP10c.1034T>G (p.Ile345Ser)
c.1013T>G (p.Ile338Ser)
c.1046T>G (p.Ile349Ser)
c.884T>G (p.Ile295Ser)
c.1022T>G (p.Ile341Ser)
c.782T>G (p.Ile261Ser)
n.67+1478A>C
c.1085T>G (p.Ile362Ser)
c.944T>G (p.Ile315Ser)
c.917T>G (p.Ile306Ser)
c.272T>G (p.Ile91Ser)
c.911T>G (p.Ile304Ser)
2g.115753258C>ACA428355179DPP10c.1035C>A (p.Ile345=)
c.1014C>A (p.Ile338=)
c.1047C>A (p.Ile349=)
c.885C>A (p.Ile295=)
c.1023C>A (p.Ile341=)
c.783C>A (p.Ile261=)
n.67+1477G>T
c.1086C>A (p.Ile362=)
c.945C>A (p.Ile315=)
c.918C>A (p.Ile306=)
c.273C>A (p.Ile91=)
c.912C>A (p.Ile304=)
2g.115753258C>GCA348323554DPP10c.1035C>G (p.Ile345Met)
c.1014C>G (p.Ile338Met)
c.1047C>G (p.Ile349Met)
c.885C>G (p.Ile295Met)
c.1023C>G (p.Ile341Met)
c.783C>G (p.Ile261Met)
n.67+1477G>C
c.1086C>G (p.Ile362Met)
c.945C>G (p.Ile315Met)
c.918C>G (p.Ile306Met)
c.273C>G (p.Ile91Met)
c.912C>G (p.Ile304Met)
2g.115753258C>TCA428355184DPP10c.1035C>T (p.Ile345=)
c.1014C>T (p.Ile338=)
c.1047C>T (p.Ile349=)
c.885C>T (p.Ile295=)
c.1023C>T (p.Ile341=)
c.783C>T (p.Ile261=)
n.67+1477G>A
c.1086C>T (p.Ile362=)
c.945C>T (p.Ile315=)
c.918C>T (p.Ile306=)
c.273C>T (p.Ile91=)
c.912C>T (p.Ile304=)
gnomAD v4
2g.115753259C>ACA1843067DPP10c.1036C>A (p.Leu346Ile)
c.1015C>A (p.Leu339Ile)
c.1048C>A (p.Leu350Ile)
c.886C>A (p.Leu296Ile)
c.1024C>A (p.Leu342Ile)
c.784C>A (p.Leu262Ile)
n.67+1476G>T
c.1087C>A (p.Leu363Ile)
c.946C>A (p.Leu316Ile)
c.919C>A (p.Leu307Ile)
c.274C>A (p.Leu92Ile)
c.913C>A (p.Leu305Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.115753259C=CA1281312543DPP10c.1036C= (p.Leu346=)
c.1015C= (p.Leu339=)
c.1048C= (p.Leu350=)
c.886C= (p.Leu296=)
c.1024C= (p.Leu342=)
c.784C= (p.Leu262=)
n.67+1476G=
c.1087C= (p.Leu363=)
c.946C= (p.Leu316=)
c.919C= (p.Leu307=)
c.274C= (p.Leu92=)
c.913C= (p.Leu305=)
2g.115753259C>GCA348323555DPP10c.1036C>G (p.Leu346Val)
c.1015C>G (p.Leu339Val)
c.1048C>G (p.Leu350Val)
c.886C>G (p.Leu296Val)
c.1024C>G (p.Leu342Val)
c.784C>G (p.Leu262Val)
n.67+1476G>C
c.1087C>G (p.Leu363Val)
c.946C>G (p.Leu316Val)
c.919C>G (p.Leu307Val)
c.274C>G (p.Leu92Val)
c.913C>G (p.Leu305Val)
2g.115753259C>TCA348323556DPP10c.1036C>T (p.Leu346Phe)
c.1015C>T (p.Leu339Phe)
c.1048C>T (p.Leu350Phe)
c.886C>T (p.Leu296Phe)
c.1024C>T (p.Leu342Phe)
c.784C>T (p.Leu262Phe)
n.67+1476G>A
c.1087C>T (p.Leu363Phe)
c.946C>T (p.Leu316Phe)
c.919C>T (p.Leu307Phe)
c.274C>T (p.Leu92Phe)
c.913C>T (p.Leu305Phe)
2g.115753260T>ACA348323557DPP10c.1037T>A (p.Leu346His)
c.1016T>A (p.Leu339His)
c.1049T>A (p.Leu350His)
c.887T>A (p.Leu296His)
c.1025T>A (p.Leu342His)
c.785T>A (p.Leu262His)
n.67+1475A>T
c.1088T>A (p.Leu363His)
c.947T>A (p.Leu316His)
c.920T>A (p.Leu307His)
c.275T>A (p.Leu92His)
c.914T>A (p.Leu305His)
2g.115753260T>CCA348323558DPP10c.1037T>C (p.Leu346Pro)
c.1016T>C (p.Leu339Pro)
c.1049T>C (p.Leu350Pro)
c.887T>C (p.Leu296Pro)
c.1025T>C (p.Leu342Pro)
c.785T>C (p.Leu262Pro)
n.67+1475A>G
c.1088T>C (p.Leu363Pro)
c.947T>C (p.Leu316Pro)
c.920T>C (p.Leu307Pro)
c.275T>C (p.Leu92Pro)
c.914T>C (p.Leu305Pro)
gnomAD v4
2g.115753260T>GCA348323559DPP10c.1037T>G (p.Leu346Arg)
c.1016T>G (p.Leu339Arg)
c.1049T>G (p.Leu350Arg)
c.887T>G (p.Leu296Arg)
c.1025T>G (p.Leu342Arg)
c.785T>G (p.Leu262Arg)
n.67+1475A>C
c.1088T>G (p.Leu363Arg)
c.947T>G (p.Leu316Arg)
c.920T>G (p.Leu307Arg)
c.275T>G (p.Leu92Arg)
c.914T>G (p.Leu305Arg)
2g.115753261C>ACA428355209DPP10c.1038C>A (p.Leu346=)
c.1017C>A (p.Leu339=)
c.1050C>A (p.Leu350=)
c.888C>A (p.Leu296=)
c.1026C>A (p.Leu342=)
c.786C>A (p.Leu262=)
n.67+1474G>T
c.1089C>A (p.Leu363=)
c.948C>A (p.Leu316=)
c.921C>A (p.Leu307=)
c.276C>A (p.Leu92=)
c.915C>A (p.Leu305=)
2g.115753261C>GCA428355216DPP10c.1038C>G (p.Leu346=)
c.1017C>G (p.Leu339=)
c.1050C>G (p.Leu350=)
c.888C>G (p.Leu296=)
c.1026C>G (p.Leu342=)
c.786C>G (p.Leu262=)
n.67+1474G>C
c.1089C>G (p.Leu363=)
c.948C>G (p.Leu316=)
c.921C>G (p.Leu307=)
c.276C>G (p.Leu92=)
c.915C>G (p.Leu305=)
2g.115753261C>TCA428355222DPP10c.1038C>T (p.Leu346=)
c.1017C>T (p.Leu339=)
c.1050C>T (p.Leu350=)
c.888C>T (p.Leu296=)
c.1026C>T (p.Leu342=)
c.786C>T (p.Leu262=)
n.67+1474G>A
c.1089C>T (p.Leu363=)
c.948C>T (p.Leu316=)
c.921C>T (p.Leu307=)
c.276C>T (p.Leu92=)
c.915C>T (p.Leu305=)
2g.115753262A>CCA348323560DPP10c.1039A>C (p.Thr347Pro)
c.1018A>C (p.Thr340Pro)
c.1051A>C (p.Thr351Pro)
c.889A>C (p.Thr297Pro)
c.1027A>C (p.Thr343Pro)
c.787A>C (p.Thr263Pro)
n.67+1473T>G
c.1090A>C (p.Thr364Pro)
c.949A>C (p.Thr317Pro)
c.922A>C (p.Thr308Pro)
c.277A>C (p.Thr93Pro)
c.916A>C (p.Thr306Pro)
2g.115753262A>GCA348323561DPP10c.1039A>G (p.Thr347Ala)
c.1018A>G (p.Thr340Ala)
c.1051A>G (p.Thr351Ala)
c.889A>G (p.Thr297Ala)
c.1027A>G (p.Thr343Ala)
c.787A>G (p.Thr263Ala)
n.67+1473T>C
c.1090A>G (p.Thr364Ala)
c.949A>G (p.Thr317Ala)
c.922A>G (p.Thr308Ala)
c.277A>G (p.Thr93Ala)
c.916A>G (p.Thr306Ala)
2g.115753262A>TCA348323562DPP10c.1039A>T (p.Thr347Ser)
c.1018A>T (p.Thr340Ser)
c.1051A>T (p.Thr351Ser)
c.889A>T (p.Thr297Ser)
c.1027A>T (p.Thr343Ser)
c.787A>T (p.Thr263Ser)
n.67+1473T>A
c.1090A>T (p.Thr364Ser)
c.949A>T (p.Thr317Ser)
c.922A>T (p.Thr308Ser)
c.277A>T (p.Thr93Ser)
c.916A>T (p.Thr306Ser)
2g.115753263C>ACA348323563DPP10c.1040C>A (p.Thr347Lys)
c.1019C>A (p.Thr340Lys)
c.1052C>A (p.Thr351Lys)
c.890C>A (p.Thr297Lys)
c.1028C>A (p.Thr343Lys)
c.788C>A (p.Thr263Lys)
n.67+1472G>T
c.1091C>A (p.Thr364Lys)
c.950C>A (p.Thr317Lys)
c.923C>A (p.Thr308Lys)
c.278C>A (p.Thr93Lys)
c.917C>A (p.Thr306Lys)
COSMIC COSMIC
2g.115753263C>GCA348323564DPP10c.1040C>G (p.Thr347Arg)
c.1019C>G (p.Thr340Arg)
c.1052C>G (p.Thr351Arg)
c.890C>G (p.Thr297Arg)
c.1028C>G (p.Thr343Arg)
c.788C>G (p.Thr263Arg)
n.67+1472G>C
c.1091C>G (p.Thr364Arg)
c.950C>G (p.Thr317Arg)
c.923C>G (p.Thr308Arg)
c.278C>G (p.Thr93Arg)
c.917C>G (p.Thr306Arg)
2g.115753263C>TCA348323565DPP10c.1040C>T (p.Thr347Ile)
c.1019C>T (p.Thr340Ile)
c.1052C>T (p.Thr351Ile)
c.890C>T (p.Thr297Ile)
c.1028C>T (p.Thr343Ile)
c.788C>T (p.Thr263Ile)
n.67+1472G>A
c.1091C>T (p.Thr364Ile)
c.950C>T (p.Thr317Ile)
c.923C>T (p.Thr308Ile)
c.278C>T (p.Thr93Ile)
c.917C>T (p.Thr306Ile)
gnomAD v4 COSMIC COSMIC COSMIC
2g.115753264A=CA1281312544DPP10c.1041A= (p.Thr347=)
c.1020A= (p.Thr340=)
c.1053A= (p.Thr351=)
c.891A= (p.Thr297=)
c.1029A= (p.Thr343=)
c.789A= (p.Thr263=)
n.67+1471T=
c.1092A= (p.Thr364=)
c.951A= (p.Thr317=)
c.924A= (p.Thr308=)
c.279A= (p.Thr93=)
c.918A= (p.Thr306=)
2g.115753264A>CCA428355263DPP10c.1041A>C (p.Thr347=)
c.1020A>C (p.Thr340=)
c.1053A>C (p.Thr351=)
c.891A>C (p.Thr297=)
c.1029A>C (p.Thr343=)
c.789A>C (p.Thr263=)
n.67+1471T>G
c.1092A>C (p.Thr364=)
c.951A>C (p.Thr317=)
c.924A>C (p.Thr308=)
c.279A>C (p.Thr93=)
c.918A>C (p.Thr306=)
dbSNP
2g.115753264A>GCA428355266DPP10c.1041A>G (p.Thr347=)
c.1020A>G (p.Thr340=)
c.1053A>G (p.Thr351=)
c.891A>G (p.Thr297=)
c.1029A>G (p.Thr343=)
c.789A>G (p.Thr263=)
n.67+1471T>C
c.1092A>G (p.Thr364=)
c.951A>G (p.Thr317=)
c.924A>G (p.Thr308=)
c.279A>G (p.Thr93=)
c.918A>G (p.Thr306=)
2g.115753264A>TCA428355268DPP10c.1041A>T (p.Thr347=)
c.1020A>T (p.Thr340=)
c.1053A>T (p.Thr351=)
c.891A>T (p.Thr297=)
c.1029A>T (p.Thr343=)
c.789A>T (p.Thr263=)
n.67+1471T>A
c.1092A>T (p.Thr364=)
c.951A>T (p.Thr317=)
c.924A>T (p.Thr308=)
c.279A>T (p.Thr93=)
c.918A>T (p.Thr306=)
2g.115753265G>ACA348323566DPP10c.1042G>A (p.Val348Ile)
c.1021G>A (p.Val341Ile)
c.1054G>A (p.Val352Ile)
c.892G>A (p.Val298Ile)
c.1030G>A (p.Val344Ile)
c.790G>A (p.Val264Ile)
n.67+1470C>T
c.1093G>A (p.Val365Ile)
c.952G>A (p.Val318Ile)
c.925G>A (p.Val309Ile)
c.280G>A (p.Val94Ile)
c.919G>A (p.Val307Ile)
dbSNP gnomAD v3 gnomAD v4
2g.115753265G>CCA348323567DPP10c.1042G>C (p.Val348Leu)
c.1021G>C (p.Val341Leu)
c.1054G>C (p.Val352Leu)
c.892G>C (p.Val298Leu)
c.1030G>C (p.Val344Leu)
c.790G>C (p.Val264Leu)
n.67+1470C>G
c.1093G>C (p.Val365Leu)
c.952G>C (p.Val318Leu)
c.925G>C (p.Val309Leu)
c.280G>C (p.Val94Leu)
c.919G>C (p.Val307Leu)
2g.115753265G=CA1281312545DPP10c.1042G= (p.Val348=)
c.1021G= (p.Val341=)
c.1054G= (p.Val352=)
c.892G= (p.Val298=)
c.1030G= (p.Val344=)
c.790G= (p.Val264=)
n.67+1470C=
c.1093G= (p.Val365=)
c.952G= (p.Val318=)
c.925G= (p.Val309=)
c.280G= (p.Val94=)
c.919G= (p.Val307=)
2g.115753265G>TCA348323568DPP10c.1042G>T (p.Val348Phe)
c.1021G>T (p.Val341Phe)
c.1054G>T (p.Val352Phe)
c.892G>T (p.Val298Phe)
c.1030G>T (p.Val344Phe)
c.790G>T (p.Val264Phe)
n.67+1470C>A
c.1093G>T (p.Val365Phe)
c.952G>T (p.Val318Phe)
c.925G>T (p.Val309Phe)
c.280G>T (p.Val94Phe)
c.919G>T (p.Val307Phe)
2g.115753266T>ACA348323571DPP10c.1043T>A (p.Val348Asp)
c.1022T>A (p.Val341Asp)
c.1055T>A (p.Val352Asp)
c.893T>A (p.Val298Asp)
c.1031T>A (p.Val344Asp)
c.791T>A (p.Val264Asp)
n.67+1469A>T
c.1094T>A (p.Val365Asp)
c.953T>A (p.Val318Asp)
c.926T>A (p.Val309Asp)
c.281T>A (p.Val94Asp)
c.920T>A (p.Val307Asp)
gnomAD v4
2g.115753266T>CCA348323569DPP10c.1043T>C (p.Val348Ala)
c.1022T>C (p.Val341Ala)
c.1055T>C (p.Val352Ala)
c.893T>C (p.Val298Ala)
c.1031T>C (p.Val344Ala)
c.791T>C (p.Val264Ala)
n.67+1469A>G
c.1094T>C (p.Val365Ala)
c.953T>C (p.Val318Ala)
c.926T>C (p.Val309Ala)
c.281T>C (p.Val94Ala)
c.920T>C (p.Val307Ala)
2g.115753266T>GCA348323570DPP10c.1043T>G (p.Val348Gly)
c.1022T>G (p.Val341Gly)
c.1055T>G (p.Val352Gly)
c.893T>G (p.Val298Gly)
c.1031T>G (p.Val344Gly)
c.791T>G (p.Val264Gly)
n.67+1469A>C
c.1094T>G (p.Val365Gly)
c.953T>G (p.Val318Gly)
c.926T>G (p.Val309Gly)
c.281T>G (p.Val94Gly)
c.920T>G (p.Val307Gly)
gnomAD v4
2g.115753267C>ACA428355302DPP10c.1044C>A (p.Val348=)
c.1023C>A (p.Val341=)
c.1056C>A (p.Val352=)
c.894C>A (p.Val298=)
c.1032C>A (p.Val344=)
c.792C>A (p.Val264=)
n.67+1468G>T
c.1095C>A (p.Val365=)
c.954C>A (p.Val318=)
c.927C>A (p.Val309=)
c.282C>A (p.Val94=)
c.921C>A (p.Val307=)
2g.115753267C>GCA428355309DPP10c.1044C>G (p.Val348=)
c.1023C>G (p.Val341=)
c.1056C>G (p.Val352=)
c.894C>G (p.Val298=)
c.1032C>G (p.Val344=)
c.792C>G (p.Val264=)
n.67+1468G>C
c.1095C>G (p.Val365=)
c.954C>G (p.Val318=)
c.927C>G (p.Val309=)
c.282C>G (p.Val94=)
c.921C>G (p.Val307=)
2g.115753267C>TCA428355315DPP10c.1044C>T (p.Val348=)
c.1023C>T (p.Val341=)
c.1056C>T (p.Val352=)
c.894C>T (p.Val298=)
c.1032C>T (p.Val344=)
c.792C>T (p.Val264=)
n.67+1468G>A
c.1095C>T (p.Val365=)
c.954C>T (p.Val318=)
c.927C>T (p.Val309=)
c.282C>T (p.Val94=)
c.921C>T (p.Val307=)
2g.115753268T>ACA348323572DPP10c.1045T>A (p.Cys349Ser)
c.1024T>A (p.Cys342Ser)
c.1057T>A (p.Cys353Ser)
c.895T>A (p.Cys299Ser)
c.1033T>A (p.Cys345Ser)
c.793T>A (p.Cys265Ser)
n.67+1467A>T
c.1096T>A (p.Cys366Ser)
c.955T>A (p.Cys319Ser)
c.928T>A (p.Cys310Ser)
c.283T>A (p.Cys95Ser)
c.922T>A (p.Cys308Ser)
2g.115753268T>CCA348323573DPP10c.1045T>C (p.Cys349Arg)
c.1024T>C (p.Cys342Arg)
c.1057T>C (p.Cys353Arg)
c.895T>C (p.Cys299Arg)
c.1033T>C (p.Cys345Arg)
c.793T>C (p.Cys265Arg)
n.67+1467A>G
c.1096T>C (p.Cys366Arg)
c.955T>C (p.Cys319Arg)
c.928T>C (p.Cys310Arg)
c.283T>C (p.Cys95Arg)
c.922T>C (p.Cys308Arg)
gnomAD v4
2g.115753268T>GCA348323574DPP10c.1045T>G (p.Cys349Gly)
c.1024T>G (p.Cys342Gly)
c.1057T>G (p.Cys353Gly)
c.895T>G (p.Cys299Gly)
c.1033T>G (p.Cys345Gly)
c.793T>G (p.Cys265Gly)
n.67+1467A>C
c.1096T>G (p.Cys366Gly)
c.955T>G (p.Cys319Gly)
c.928T>G (p.Cys310Gly)
c.283T>G (p.Cys95Gly)
c.922T>G (p.Cys308Gly)
2g.115753269G>ACA348323575DPP10c.1046G>A (p.Cys349Tyr)
c.1025G>A (p.Cys342Tyr)
c.1058G>A (p.Cys353Tyr)
c.896G>A (p.Cys299Tyr)
c.1034G>A (p.Cys345Tyr)
c.794G>A (p.Cys265Tyr)
n.67+1466C>T
c.1097G>A (p.Cys366Tyr)
c.956G>A (p.Cys319Tyr)
c.929G>A (p.Cys310Tyr)
c.284G>A (p.Cys95Tyr)
c.923G>A (p.Cys308Tyr)
gnomAD v4
2g.115753269G>CCA348323576DPP10c.1046G>C (p.Cys349Ser)
c.1025G>C (p.Cys342Ser)
c.1058G>C (p.Cys353Ser)
c.896G>C (p.Cys299Ser)
c.1034G>C (p.Cys345Ser)
c.794G>C (p.Cys265Ser)
n.67+1466C>G
c.1097G>C (p.Cys366Ser)
c.956G>C (p.Cys319Ser)
c.929G>C (p.Cys310Ser)
c.284G>C (p.Cys95Ser)
c.923G>C (p.Cys308Ser)
2g.115753269G>TCA348323577DPP10c.1046G>T (p.Cys349Phe)
c.1025G>T (p.Cys342Phe)
c.1058G>T (p.Cys353Phe)
c.896G>T (p.Cys299Phe)
c.1034G>T (p.Cys345Phe)
c.794G>T (p.Cys265Phe)
n.67+1466C>A
c.1097G>T (p.Cys366Phe)
c.956G>T (p.Cys319Phe)
c.929G>T (p.Cys310Phe)
c.284G>T (p.Cys95Phe)
c.923G>T (p.Cys308Phe)
2g.115753270T>ACA348323578DPP10c.1047T>A (p.Cys349Ter)
c.1026T>A (p.Cys342Ter)
c.1059T>A (p.Cys353Ter)
c.897T>A (p.Cys299Ter)
c.1035T>A (p.Cys345Ter)
c.795T>A (p.Cys265Ter)
n.67+1465A>T
c.1098T>A (p.Cys366Ter)
c.957T>A (p.Cys319Ter)
c.930T>A (p.Cys310Ter)
c.285T>A (p.Cys95Ter)
c.924T>A (p.Cys308Ter)
2g.115753270T>CCA428355335DPP10c.1047T>C (p.Cys349=)
c.1026T>C (p.Cys342=)
c.1059T>C (p.Cys353=)
c.897T>C (p.Cys299=)
c.1035T>C (p.Cys345=)
c.795T>C (p.Cys265=)
n.67+1465A>G
c.1098T>C (p.Cys366=)
c.957T>C (p.Cys319=)
c.930T>C (p.Cys310=)
c.285T>C (p.Cys95=)
c.924T>C (p.Cys308=)
2g.115753270T>GCA348323579DPP10c.1047T>G (p.Cys349Trp)
c.1026T>G (p.Cys342Trp)
c.1059T>G (p.Cys353Trp)
c.897T>G (p.Cys299Trp)
c.1035T>G (p.Cys345Trp)
c.795T>G (p.Cys265Trp)
n.67+1465A>C
c.1098T>G (p.Cys366Trp)
c.957T>G (p.Cys319Trp)
c.930T>G (p.Cys310Trp)
c.285T>G (p.Cys95Trp)
c.924T>G (p.Cys308Trp)
gnomAD v4
2g.115753271G>ACA348323580DPP10c.1048G>A (p.Glu350Lys)
c.1027G>A (p.Glu343Lys)
c.1060G>A (p.Glu354Lys)
c.898G>A (p.Glu300Lys)
c.1036G>A (p.Glu346Lys)
c.796G>A (p.Glu266Lys)
n.67+1464C>T
c.1099G>A (p.Glu367Lys)
c.958G>A (p.Glu320Lys)
c.931G>A (p.Glu311Lys)
c.286G>A (p.Glu96Lys)
c.925G>A (p.Glu309Lys)
2g.115753271G>CCA348323581DPP10c.1048G>C (p.Glu350Gln)
c.1027G>C (p.Glu343Gln)
c.1060G>C (p.Glu354Gln)
c.898G>C (p.Glu300Gln)
c.1036G>C (p.Glu346Gln)
c.796G>C (p.Glu266Gln)
n.67+1464C>G
c.1099G>C (p.Glu367Gln)
c.958G>C (p.Glu320Gln)
c.931G>C (p.Glu311Gln)
c.286G>C (p.Glu96Gln)
c.925G>C (p.Glu309Gln)
2g.115753271G>TCA348323582DPP10c.1048G>T (p.Glu350Ter)
c.1027G>T (p.Glu343Ter)
c.1060G>T (p.Glu354Ter)
c.898G>T (p.Glu300Ter)
c.1036G>T (p.Glu346Ter)
c.796G>T (p.Glu266Ter)
n.67+1464C>A
c.1099G>T (p.Glu367Ter)
c.958G>T (p.Glu320Ter)
c.931G>T (p.Glu311Ter)
c.286G>T (p.Glu96Ter)
c.925G>T (p.Glu309Ter)
2g.115753272A=CA1281312546DPP10c.1049A= (p.Glu350=)
c.1028A= (p.Glu343=)
c.1061A= (p.Glu354=)
c.899A= (p.Glu300=)
c.1037A= (p.Glu346=)
c.797A= (p.Glu266=)
n.67+1463T=
c.1100A= (p.Glu367=)
c.959A= (p.Glu320=)
c.932A= (p.Glu311=)
c.287A= (p.Glu96=)
c.926A= (p.Glu309=)
2g.115753272A>CCA348323583DPP10c.1049A>C (p.Glu350Ala)
c.1028A>C (p.Glu343Ala)
c.1061A>C (p.Glu354Ala)
c.899A>C (p.Glu300Ala)
c.1037A>C (p.Glu346Ala)
c.797A>C (p.Glu266Ala)
n.67+1463T>G
c.1100A>C (p.Glu367Ala)
c.959A>C (p.Glu320Ala)
c.932A>C (p.Glu311Ala)
c.287A>C (p.Glu96Ala)
c.926A>C (p.Glu309Ala)
2g.115753272A>GCA54497659DPP10c.1049A>G (p.Glu350Gly)
c.1028A>G (p.Glu343Gly)
c.1061A>G (p.Glu354Gly)
c.899A>G (p.Glu300Gly)
c.1037A>G (p.Glu346Gly)
c.797A>G (p.Glu266Gly)
n.67+1463T>C
c.1100A>G (p.Glu367Gly)
c.959A>G (p.Glu320Gly)
c.932A>G (p.Glu311Gly)
c.287A>G (p.Glu96Gly)
c.926A>G (p.Glu309Gly)
dbSNP
2g.115753272A>TCA348323584DPP10c.1049A>T (p.Glu350Val)
c.1028A>T (p.Glu343Val)
c.1061A>T (p.Glu354Val)
c.899A>T (p.Glu300Val)
c.1037A>T (p.Glu346Val)
c.797A>T (p.Glu266Val)
n.67+1463T>A
c.1100A>T (p.Glu367Val)
c.959A>T (p.Glu320Val)
c.932A>T (p.Glu311Val)
c.287A>T (p.Glu96Val)
c.926A>T (p.Glu309Val)
2g.115753273G>ACA428355374DPP10c.1050G>A (p.Glu350=)
c.1029G>A (p.Glu343=)
c.1062G>A (p.Glu354=)
c.900G>A (p.Glu300=)
c.1038G>A (p.Glu346=)
c.798G>A (p.Glu266=)
n.67+1462C>T
c.1101G>A (p.Glu367=)
c.960G>A (p.Glu320=)
c.933G>A (p.Glu311=)
c.288G>A (p.Glu96=)
c.927G>A (p.Glu309=)
2g.115753273G>CCA348323585DPP10c.1050G>C (p.Glu350Asp)
c.1029G>C (p.Glu343Asp)
c.1062G>C (p.Glu354Asp)
c.900G>C (p.Glu300Asp)
c.1038G>C (p.Glu346Asp)
c.798G>C (p.Glu266Asp)
n.67+1462C>G
c.1101G>C (p.Glu367Asp)
c.960G>C (p.Glu320Asp)
c.933G>C (p.Glu311Asp)
c.288G>C (p.Glu96Asp)
c.927G>C (p.Glu309Asp)
2g.115753273G>TCA348323586DPP10c.1050G>T (p.Glu350Asp)
c.1029G>T (p.Glu343Asp)
c.1062G>T (p.Glu354Asp)
c.900G>T (p.Glu300Asp)
c.1038G>T (p.Glu346Asp)
c.798G>T (p.Glu266Asp)
n.67+1462C>A
c.1101G>T (p.Glu367Asp)
c.960G>T (p.Glu320Asp)
c.933G>T (p.Glu311Asp)
c.288G>T (p.Glu96Asp)
c.927G>T (p.Glu309Asp)
2g.115753274A=CA1281312547DPP10c.1051A= (p.Thr351=)
c.1030A= (p.Thr344=)
c.1063A= (p.Thr355=)
c.901A= (p.Thr301=)
c.1039A= (p.Thr347=)
c.799A= (p.Thr267=)
n.67+1461T=
c.1102A= (p.Thr368=)
c.961A= (p.Thr321=)
c.934A= (p.Thr312=)
c.289A= (p.Thr97=)
c.928A= (p.Thr310=)
2g.115753274A>CCA348323587DPP10c.1051A>C (p.Thr351Pro)
c.1030A>C (p.Thr344Pro)
c.1063A>C (p.Thr355Pro)
c.901A>C (p.Thr301Pro)
c.1039A>C (p.Thr347Pro)
c.799A>C (p.Thr267Pro)
n.67+1461T>G
c.1102A>C (p.Thr368Pro)
c.961A>C (p.Thr321Pro)
c.934A>C (p.Thr312Pro)
c.289A>C (p.Thr97Pro)
c.928A>C (p.Thr310Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.115753274A>GCA348323588DPP10c.1051A>G (p.Thr351Ala)
c.1030A>G (p.Thr344Ala)
c.1063A>G (p.Thr355Ala)
c.901A>G (p.Thr301Ala)
c.1039A>G (p.Thr347Ala)
c.799A>G (p.Thr267Ala)
n.67+1461T>C
c.1102A>G (p.Thr368Ala)
c.961A>G (p.Thr321Ala)
c.934A>G (p.Thr312Ala)
c.289A>G (p.Thr97Ala)
c.928A>G (p.Thr310Ala)
2g.115753274A>TCA348323589DPP10c.1051A>T (p.Thr351Ser)
c.1030A>T (p.Thr344Ser)
c.1063A>T (p.Thr355Ser)
c.901A>T (p.Thr301Ser)
c.1039A>T (p.Thr347Ser)
c.799A>T (p.Thr267Ser)
n.67+1461T>A
c.1102A>T (p.Thr368Ser)
c.961A>T (p.Thr321Ser)
c.934A>T (p.Thr312Ser)
c.289A>T (p.Thr97Ser)
c.928A>T (p.Thr310Ser)
2g.115753275C>ACA348323590DPP10c.1052C>A (p.Thr351Asn)
c.1031C>A (p.Thr344Asn)
c.1064C>A (p.Thr355Asn)
c.902C>A (p.Thr301Asn)
c.1040C>A (p.Thr347Asn)
c.800C>A (p.Thr267Asn)
n.67+1460G>T
c.1103C>A (p.Thr368Asn)
c.962C>A (p.Thr321Asn)
c.935C>A (p.Thr312Asn)
c.290C>A (p.Thr97Asn)
c.929C>A (p.Thr310Asn)
gnomAD v4
2g.115753275C>GCA348323591DPP10c.1052C>G (p.Thr351Ser)
c.1031C>G (p.Thr344Ser)
c.1064C>G (p.Thr355Ser)
c.902C>G (p.Thr301Ser)
c.1040C>G (p.Thr347Ser)
c.800C>G (p.Thr267Ser)
n.67+1460G>C
c.1103C>G (p.Thr368Ser)
c.962C>G (p.Thr321Ser)
c.935C>G (p.Thr312Ser)
c.290C>G (p.Thr97Ser)
c.929C>G (p.Thr310Ser)
2g.115753275C>TCA348323592DPP10c.1052C>T (p.Thr351Ile)
c.1031C>T (p.Thr344Ile)
c.1064C>T (p.Thr355Ile)
c.902C>T (p.Thr301Ile)
c.1040C>T (p.Thr347Ile)
c.800C>T (p.Thr267Ile)
n.67+1460G>A
c.1103C>T (p.Thr368Ile)
c.962C>T (p.Thr321Ile)
c.935C>T (p.Thr312Ile)
c.290C>T (p.Thr97Ile)
c.929C>T (p.Thr310Ile)

Number of alleles fetched