Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched