Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154837577_154837772delCA915940534F8c.6901-20_*20del
c.634-20_*20del
c.496-20_*20del
c.6796-20_*20del
Xg.154837594C>GCA2695167408F8c.*3G>C (n.*3G>C)
 gnomAD v4
Xg.154837595C=CA2466807415F8c.*2G= (n.*2G=)
Xg.154837595C>GCA519355152F8c.*2G>C (n.*2G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154837596C>ACA2695167409F8c.*1G>T (n.*1G>T)
 gnomAD v4
Xg.154837597T>ACA414896481F8c.7056A>T (p.Ter2352Cys)
c.789A>T (p.Ter263Cys)
c.651A>T (p.Ter217Cys)
c.6951A>T (p.Ter2317Cys)
Xg.154837597T>CCA414896496F8c.7056A>G (p.Ter2352Trp)
c.789A>G (p.Ter263Trp)
c.651A>G (p.Ter217Trp)
c.6951A>G (p.Ter2317Trp)
Xg.154837597T>GCA414896501F8c.7056A>C (p.Ter2352Cys)
c.789A>C (p.Ter263Cys)
c.651A>C (p.Ter217Cys)
c.6951A>C (p.Ter2317Cys)
Xg.154837598C>ACA414896505F8c.7055G>T (p.Ter2352Leu)
c.788G>T (p.Ter263Leu)
c.650G>T (p.Ter217Leu)
c.6950G>T (p.Ter2317Leu)
Xg.154837598C>GCA414896509F8c.7055G>C (p.Ter2352Ser)
c.788G>C (p.Ter263Ser)
c.650G>C (p.Ter217Ser)
c.6950G>C (p.Ter2317Ser)
Xg.154837598C>TCA519355156F8c.7055G>A (p.Ter2352=)
c.788G>A (p.Ter263=)
c.650G>A (p.Ter217=)
c.6950G>A (p.Ter2317=)
Xg.154837599delCA2695237101F8c.7054del (p.Ter2352GluextTer?)
c.787del (p.Ter263GluextTer?)
c.649del (p.Ter217GluextTer?)
c.6949del (p.Ter2317GluextTer?)
Xg.154837599A=CA2466807416F8c.7054T= (p.Ter2352=)
c.787T= (p.Ter263=)
c.649T= (p.Ter217=)
c.6949T= (p.Ter2317=)
Xg.154837599A>CCA414896512F8c.7054T>G (p.Ter2352Gly)
c.787T>G (p.Ter263Gly)
c.649T>G (p.Ter217Gly)
c.6949T>G (p.Ter2317Gly)
Xg.154837599A>GCA414896515F8c.7054T>C (p.Ter2352Arg)
c.787T>C (p.Ter263Arg)
c.649T>C (p.Ter217Arg)
c.6949T>C (p.Ter2317Arg)
 dbSNP
Xg.154837599A>TCA414896519F8c.7054T>A (p.Ter2352Arg)
c.787T>A (p.Ter263Arg)
c.649T>A (p.Ter217Arg)
c.6949T>A (p.Ter2317Arg)
Xg.154837600G>ACA519355157F8c.7053C>T (p.Tyr2351=)
c.786C>T (p.Tyr262=)
c.648C>T (p.Tyr216=)
c.6948C>T (p.Tyr2316=)
Xg.154837600G>CCA414896520F8c.7053C>G (p.Tyr2351Ter)
c.786C>G (p.Tyr262Ter)
c.648C>G (p.Tyr216Ter)
c.6948C>G (p.Tyr2316Ter)
Xg.154837600G>TCA414896521F8c.7053C>A (p.Tyr2351Ter)
c.786C>A (p.Tyr262Ter)
c.648C>A (p.Tyr216Ter)
c.6948C>A (p.Tyr2316Ter)
Xg.154837601T>ACA414896542F8c.7052A>T (p.Tyr2351Phe)
c.785A>T (p.Tyr262Phe)
c.647A>T (p.Tyr216Phe)
c.6947A>T (p.Tyr2316Phe)
Xg.154837601T>CCA414896538F8c.7052A>G (p.Tyr2351Cys)
c.785A>G (p.Tyr262Cys)
c.647A>G (p.Tyr216Cys)
c.6947A>G (p.Tyr2316Cys)
Xg.154837601T>GCA414896522F8c.7052A>C (p.Tyr2351Ser)
c.785A>C (p.Tyr262Ser)
c.647A>C (p.Tyr216Ser)
c.6947A>C (p.Tyr2316Ser)
Xg.154837602A>CCA414896543F8c.7051T>G (p.Tyr2351Asp)
c.784T>G (p.Tyr262Asp)
c.646T>G (p.Tyr216Asp)
c.6946T>G (p.Tyr2316Asp)
Xg.154837602A>GCA414896545F8c.7051T>C (p.Tyr2351His)
c.784T>C (p.Tyr262His)
c.646T>C (p.Tyr216His)
c.6946T>C (p.Tyr2316His)
Xg.154837602A>TCA414896547F8c.7051T>A (p.Tyr2351Asn)
c.784T>A (p.Tyr262Asn)
c.646T>A (p.Tyr216Asn)
c.6946T>A (p.Tyr2316Asn)
Xg.154837603G>ACA519355160F8c.7050C>T (p.Leu2350=)
c.783C>T (p.Leu261=)
c.645C>T (p.Leu215=)
c.6945C>T (p.Leu2315=)
 COSMIC COSMIC
Xg.154837603G>CCA519355161F8c.7050C>G (p.Leu2350=)
c.783C>G (p.Leu261=)
c.645C>G (p.Leu215=)
c.6945C>G (p.Leu2315=)
Xg.154837603G>TCA519355162F8c.7050C>A (p.Leu2350=)
c.783C>A (p.Leu261=)
c.645C>A (p.Leu215=)
c.6945C>A (p.Leu2315=)
Xg.154837604A=CA2466807417F8c.7049T= (p.Leu2350=)
c.782T= (p.Leu261=)
c.644T= (p.Leu215=)
c.6944T= (p.Leu2315=)
Xg.154837604A>CCA414896548F8c.7049T>G (p.Leu2350Arg)
c.782T>G (p.Leu261Arg)
c.644T>G (p.Leu215Arg)
c.6944T>G (p.Leu2315Arg)
 dbSNP gnomAD v2
Xg.154837604A>GCA414896549F8c.7049T>C (p.Leu2350Pro)
c.782T>C (p.Leu261Pro)
c.644T>C (p.Leu215Pro)
c.6944T>C (p.Leu2315Pro)
Xg.154837604A>TCA414896551F8c.7049T>A (p.Leu2350His)
c.782T>A (p.Leu261His)
c.644T>A (p.Leu215His)
c.6944T>A (p.Leu2315His)
Xg.154837605G>ACA414896554F8c.7048C>T (p.Leu2350Phe)
c.781C>T (p.Leu261Phe)
c.643C>T (p.Leu215Phe)
c.6943C>T (p.Leu2315Phe)
Xg.154837605G>CCA414896557F8c.7048C>G (p.Leu2350Val)
c.781C>G (p.Leu261Val)
c.643C>G (p.Leu215Val)
c.6943C>G (p.Leu2315Val)
Xg.154837605G>TCA414896560F8c.7048C>A (p.Leu2350Ile)
c.781C>A (p.Leu261Ile)
c.643C>A (p.Leu215Ile)
c.6943C>A (p.Leu2315Ile)
Xg.154837606G>ACA519355163F8c.7047C>T (p.Asp2349=)
c.780C>T (p.Asp260=)
c.642C>T (p.Asp214=)
c.6942C>T (p.Asp2314=)
 gnomAD v4
Xg.154837606G>CCA414896568F8c.7047C>G (p.Asp2349Glu)
c.780C>G (p.Asp260Glu)
c.642C>G (p.Asp214Glu)
c.6942C>G (p.Asp2314Glu)
Xg.154837606G>TCA414896570F8c.7047C>A (p.Asp2349Glu)
c.780C>A (p.Asp260Glu)
c.642C>A (p.Asp214Glu)
c.6942C>A (p.Asp2314Glu)
Xg.154837607T>ACA414896579F8c.7046A>T (p.Asp2349Val)
c.779A>T (p.Asp260Val)
c.641A>T (p.Asp214Val)
c.6941A>T (p.Asp2314Val)
Xg.154837607T>CCA414896573F8c.7046A>G (p.Asp2349Gly)
c.779A>G (p.Asp260Gly)
c.641A>G (p.Asp214Gly)
c.6941A>G (p.Asp2314Gly)
Xg.154837607T>GCA414896577F8c.7046A>C (p.Asp2349Ala)
c.779A>C (p.Asp260Ala)
c.641A>C (p.Asp214Ala)
c.6941A>C (p.Asp2314Ala)
 gnomAD v4
Xg.154837608C>ACA414896585F8c.7045G>T (p.Asp2349Tyr)
c.778G>T (p.Asp260Tyr)
c.640G>T (p.Asp214Tyr)
c.6940G>T (p.Asp2314Tyr)
Xg.154837608C>GCA414896588F8c.7045G>C (p.Asp2349His)
c.778G>C (p.Asp260His)
c.640G>C (p.Asp214His)
c.6940G>C (p.Asp2314His)
Xg.154837608C>TCA414896592F8c.7045G>A (p.Asp2349Asn)
c.778G>A (p.Asp260Asn)
c.640G>A (p.Asp214Asn)
c.6940G>A (p.Asp2314Asn)
Xg.154837609C>ACA414896593F8c.7044G>T (p.Gln2348His)
c.777G>T (p.Gln259His)
c.639G>T (p.Gln213His)
c.6939G>T (p.Gln2313His)
Xg.154837609C>GCA414896594F8c.7044G>C (p.Gln2348His)
c.777G>C (p.Gln259His)
c.639G>C (p.Gln213His)
c.6939G>C (p.Gln2313His)
Xg.154837609C>TCA519355168F8c.7044G>A (p.Gln2348=)
c.777G>A (p.Gln259=)
c.639G>A (p.Gln213=)
c.6939G>A (p.Gln2313=)
Xg.154837610T>ACA414896596F8c.7043A>T (p.Gln2348Leu)
c.776A>T (p.Gln259Leu)
c.638A>T (p.Gln213Leu)
c.6938A>T (p.Gln2313Leu)
Xg.154837610T>CCA414896599F8c.7043A>G (p.Gln2348Arg)
c.776A>G (p.Gln259Arg)
c.638A>G (p.Gln213Arg)
c.6938A>G (p.Gln2313Arg)
Xg.154837610T>GCA414896602F8c.7043A>C (p.Gln2348Pro)
c.776A>C (p.Gln259Pro)
c.638A>C (p.Gln213Pro)
c.6938A>C (p.Gln2313Pro)
Xg.154837611G>ACA414896606F8c.7042C>T (p.Gln2348Ter)
c.775C>T (p.Gln259Ter)
c.637C>T (p.Gln213Ter)
c.6937C>T (p.Gln2313Ter)
Xg.154837611G>CCA414896610F8c.7042C>G (p.Gln2348Glu)
c.775C>G (p.Gln259Glu)
c.637C>G (p.Gln213Glu)
c.6937C>G (p.Gln2313Glu)
Xg.154837611G>TCA414896613F8c.7042C>A (p.Gln2348Lys)
c.775C>A (p.Gln259Lys)
c.637C>A (p.Gln213Lys)
c.6937C>A (p.Gln2313Lys)
Xg.154837612T>ACA519355169F8c.7041A>T (p.Ala2347=)
c.774A>T (p.Ala258=)
c.636A>T (p.Ala212=)
c.6936A>T (p.Ala2312=)
Xg.154837612T>CCA519355171F8c.7041A>G (p.Ala2347=)
c.774A>G (p.Ala258=)
c.636A>G (p.Ala212=)
c.6936A>G (p.Ala2312=)
Xg.154837612T>GCA519355170F8c.7041A>C (p.Ala2347=)
c.774A>C (p.Ala258=)
c.636A>C (p.Ala212=)
c.6936A>C (p.Ala2312=)
Xg.154837613G>ACA414896616F8c.7040C>T (p.Ala2347Val)
c.773C>T (p.Ala258Val)
c.635C>T (p.Ala212Val)
c.6935C>T (p.Ala2312Val)
Xg.154837613G>CCA414896617F8c.7040C>G (p.Ala2347Gly)
c.773C>G (p.Ala258Gly)
c.635C>G (p.Ala212Gly)
c.6935C>G (p.Ala2312Gly)
Xg.154837613G>TCA414896614F8c.7040C>A (p.Ala2347Glu)
c.773C>A (p.Ala258Glu)
c.635C>A (p.Ala212Glu)
c.6935C>A (p.Ala2312Glu)
Xg.154837614C>ACA414896621F8c.7039G>T (p.Ala2347Ser)
c.772G>T (p.Ala258Ser)
c.634G>T (p.Ala212Ser)
c.6934G>T (p.Ala2312Ser)
Xg.154837614C>GCA414896620F8c.7039G>C (p.Ala2347Pro)
c.772G>C (p.Ala258Pro)
c.634G>C (p.Ala212Pro)
c.6934G>C (p.Ala2312Pro)
Xg.154837614C>TCA414896622F8c.7039G>A (p.Ala2347Thr)
c.772G>A (p.Ala258Thr)
c.634G>A (p.Ala212Thr)
c.6934G>A (p.Ala2312Thr)
Xg.154837615C>ACA414896624F8c.7038G>T (p.Glu2346Asp)
c.771G>T (p.Glu257Asp)
c.633G>T (p.Glu211Asp)
c.6933G>T (p.Glu2311Asp)
Xg.154837615C>GCA414896627F8c.7038G>C (p.Glu2346Asp)
c.771G>C (p.Glu257Asp)
c.633G>C (p.Glu211Asp)
c.6933G>C (p.Glu2311Asp)
 gnomAD v4
Xg.154837615C>TCA519355173F8c.7038G>A (p.Glu2346=)
c.771G>A (p.Glu257=)
c.633G>A (p.Glu211=)
c.6933G>A (p.Glu2311=)
Xg.154837616T>ACA414896630F8c.7037A>T (p.Glu2346Val)
c.770A>T (p.Glu257Val)
c.632A>T (p.Glu211Val)
c.6932A>T (p.Glu2311Val)
Xg.154837616T>CCA414896633F8c.7037A>G (p.Glu2346Gly)
c.770A>G (p.Glu257Gly)
c.632A>G (p.Glu211Gly)
c.6932A>G (p.Glu2311Gly)
Xg.154837616T>GCA414896636F8c.7037A>C (p.Glu2346Ala)
c.770A>C (p.Glu257Ala)
c.632A>C (p.Glu211Ala)
c.6932A>C (p.Glu2311Ala)
Xg.154837617C>ACA414896639F8c.7036G>T (p.Glu2346Ter)
c.769G>T (p.Glu257Ter)
c.631G>T (p.Glu211Ter)
c.6931G>T (p.Glu2311Ter)
Xg.154837617C=CA2466807418F8c.7036G= (p.Glu2346=)
c.769G= (p.Glu257=)
c.631G= (p.Glu211=)
c.6931G= (p.Glu2311=)
Xg.154837617C>GCA414896642F8c.7036G>C (p.Glu2346Gln)
c.769G>C (p.Glu257Gln)
c.631G>C (p.Glu211Gln)
c.6931G>C (p.Glu2311Gln)
 dbSNP
Xg.154837617C>TCA10567721F8c.7036G>A (p.Glu2346Lys)
c.769G>A (p.Glu257Lys)
c.631G>A (p.Glu211Lys)
c.6931G>A (p.Glu2311Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154837618G>ACA519355177F8c.7035C>T (p.Cys2345=)
c.768C>T (p.Cys256=)
c.630C>T (p.Cys210=)
c.6930C>T (p.Cys2310=)
 dbSNP gnomAD v4
Xg.154837618G>CCA414896651F8c.7035C>G (p.Cys2345Trp)
c.768C>G (p.Cys256Trp)
c.630C>G (p.Cys210Trp)
c.6930C>G (p.Cys2310Trp)
Xg.154837618G=CA2466807419F8c.7035C= (p.Cys2345=)
c.768C= (p.Cys256=)
c.630C= (p.Cys210=)
c.6930C= (p.Cys2310=)
Xg.154837618G>TCA414896654F8c.7035C>A (p.Cys2345Ter)
c.768C>A (p.Cys256Ter)
c.630C>A (p.Cys210Ter)
c.6930C>A (p.Cys2310Ter)
Xg.154837619C>ACA414896663F8c.7034G>T (p.Cys2345Phe)
c.767G>T (p.Cys256Phe)
c.629G>T (p.Cys210Phe)
c.6929G>T (p.Cys2310Phe)
Xg.154837619C>GCA414896659F8c.7034G>C (p.Cys2345Ser)
c.767G>C (p.Cys256Ser)
c.629G>C (p.Cys210Ser)
c.6929G>C (p.Cys2310Ser)
Xg.154837619C>TCA414896656F8c.7034G>A (p.Cys2345Tyr)
c.767G>A (p.Cys256Tyr)
c.629G>A (p.Cys210Tyr)
c.6929G>A (p.Cys2310Tyr)
Xg.154837620A=CA2466807420F8c.7033T= (p.Cys2345=)
c.766T= (p.Cys256=)
c.628T= (p.Cys210=)
c.6928T= (p.Cys2310=)
Xg.154837620A>CCA414896668F8c.7033T>G (p.Cys2345Gly)
c.766T>G (p.Cys256Gly)
c.628T>G (p.Cys210Gly)
c.6928T>G (p.Cys2310Gly)
Xg.154837620A>GCA414896673F8c.7033T>C (p.Cys2345Arg)
c.766T>C (p.Cys256Arg)
c.628T>C (p.Cys210Arg)
c.6928T>C (p.Cys2310Arg)
 dbSNP
Xg.154837620A>TCA414896680F8c.7033T>A (p.Cys2345Ser)
c.766T>A (p.Cys256Ser)
c.628T>A (p.Cys210Ser)
c.6928T>A (p.Cys2310Ser)
Xg.154837621G>ACA519355179F8c.7032C>T (p.Gly2344=)
c.765C>T (p.Gly255=)
c.627C>T (p.Gly209=)
c.6927C>T (p.Gly2309=)
Xg.154837621G>CCA519355180F8c.7032C>G (p.Gly2344=)
c.765C>G (p.Gly255=)
c.627C>G (p.Gly209=)
c.6927C>G (p.Gly2309=)
Xg.154837621G>TCA519355178F8c.7032C>A (p.Gly2344=)
c.765C>A (p.Gly255=)
c.627C>A (p.Gly209=)
c.6927C>A (p.Gly2309=)
Xg.154837622C>ACA414896682F8c.7031G>T (p.Gly2344Val)
c.764G>T (p.Gly255Val)
c.626G>T (p.Gly209Val)
c.6926G>T (p.Gly2309Val)
Xg.154837622C=CA2466807421F8c.7031G= (p.Gly2344=)
c.764G= (p.Gly255=)
c.626G= (p.Gly209=)
c.6926G= (p.Gly2309=)
Xg.154837622C>GCA414896685F8c.7031G>C (p.Gly2344Ala)
c.764G>C (p.Gly255Ala)
c.626G>C (p.Gly209Ala)
c.6926G>C (p.Gly2309Ala)
Xg.154837622C>TCA414896689F8c.7031G>A (p.Gly2344Asp)
c.764G>A (p.Gly255Asp)
c.626G>A (p.Gly209Asp)
c.6926G>A (p.Gly2309Asp)
 ClinVar dbSNP
Xg.154837624delCA2695237102F8c.7031del (p.Gly2344AlafsTer?)
c.764del (p.Gly255AlafsTer?)
c.626del (p.Gly209AlafsTer?)
c.6926del (p.Gly2309AlafsTer?)
Xg.154837623C>ACA414896697F8c.7030G>T (p.Gly2344Cys)
c.763G>T (p.Gly255Cys)
c.625G>T (p.Gly209Cys)
c.6925G>T (p.Gly2309Cys)
Xg.154837623C=CA2466807422F8c.7030G= (p.Gly2344=)
c.763G= (p.Gly255=)
c.625G= (p.Gly209=)
c.6925G= (p.Gly2309=)
Xg.154837623C>GCA414896700F8c.7030G>C (p.Gly2344Arg)
c.763G>C (p.Gly255Arg)
c.625G>C (p.Gly209Arg)
c.6925G>C (p.Gly2309Arg)
 dbSNP
Xg.154837623C>TCA414896705F8c.7030G>A (p.Gly2344Ser)
c.763G>A (p.Gly255Ser)
c.625G>A (p.Gly209Ser)
c.6925G>A (p.Gly2309Ser)
Xg.154837624C>ACA519355185F8c.7029G>T (p.Leu2343=)
c.762G>T (p.Leu254=)
c.624G>T (p.Leu208=)
c.6924G>T (p.Leu2308=)
 gnomAD v4
Xg.154837624C>GCA519355186F8c.7029G>C (p.Leu2343=)
c.762G>C (p.Leu254=)
c.624G>C (p.Leu208=)
c.6924G>C (p.Leu2308=)
Xg.154837624C>TCA519355187F8c.7029G>A (p.Leu2343=)
c.762G>A (p.Leu254=)
c.624G>A (p.Leu208=)
c.6924G>A (p.Leu2308=)
Xg.154837625A>CCA414896710F8c.7028T>G (p.Leu2343Arg)
c.761T>G (p.Leu254Arg)
c.623T>G (p.Leu208Arg)
c.6923T>G (p.Leu2308Arg)
Xg.154837625A>GCA414896712F8c.7028T>C (p.Leu2343Pro)
c.761T>C (p.Leu254Pro)
c.623T>C (p.Leu208Pro)
c.6923T>C (p.Leu2308Pro)
Xg.154837625A>TCA414896714F8c.7028T>A (p.Leu2343Gln)
c.761T>A (p.Leu254Gln)
c.623T>A (p.Leu208Gln)
c.6923T>A (p.Leu2308Gln)
Xg.154837626G>ACA519355189F8c.7027C>T (p.Leu2343=)
c.760C>T (p.Leu254=)
c.622C>T (p.Leu208=)
c.6922C>T (p.Leu2308=)
Xg.154837626G>CCA414896721F8c.7027C>G (p.Leu2343Val)
c.760C>G (p.Leu254Val)
c.622C>G (p.Leu208Val)
c.6922C>G (p.Leu2308Val)
Xg.154837626G>TCA414896719F8c.7027C>A (p.Leu2343Met)
c.760C>A (p.Leu254Met)
c.622C>A (p.Leu208Met)
c.6922C>A (p.Leu2308Met)
Xg.154837627A>CCA519355190F8c.7026T>G (p.Val2342=)
c.759T>G (p.Val253=)
c.621T>G (p.Val207=)
c.6921T>G (p.Val2307=)
Xg.154837627A>GCA519355191F8c.7026T>C (p.Val2342=)
c.759T>C (p.Val253=)
c.621T>C (p.Val207=)
c.6921T>C (p.Val2307=)
Xg.154837627A>TCA519355192F8c.7026T>A (p.Val2342=)
c.759T>A (p.Val253=)
c.621T>A (p.Val207=)
c.6921T>A (p.Val2307=)
Xg.154837628A>CCA414896728F8c.7025T>G (p.Val2342Gly)
c.758T>G (p.Val253Gly)
c.620T>G (p.Val207Gly)
c.6920T>G (p.Val2307Gly)
Xg.154837628A>GCA414896730F8c.7025T>C (p.Val2342Ala)
c.758T>C (p.Val253Ala)
c.620T>C (p.Val207Ala)
c.6920T>C (p.Val2307Ala)
Xg.154837628A>TCA414896733F8c.7025T>A (p.Val2342Asp)
c.758T>A (p.Val253Asp)
c.620T>A (p.Val207Asp)
c.6920T>A (p.Val2307Asp)
Xg.154837629C>ACA414896736F8c.7024G>T (p.Val2342Phe)
c.757G>T (p.Val253Phe)
c.619G>T (p.Val207Phe)
c.6919G>T (p.Val2307Phe)
Xg.154837629C>GCA414896739F8c.7024G>C (p.Val2342Leu)
c.757G>C (p.Val253Leu)
c.619G>C (p.Val207Leu)
c.6919G>C (p.Val2307Leu)
Xg.154837629C>TCA414896740F8c.7024G>A (p.Val2342Ile)
c.757G>A (p.Val253Ile)
c.619G>A (p.Val207Ile)
c.6919G>A (p.Val2307Ile)
Xg.154837630C>ACA414896741F8c.7023G>T (p.Glu2341Asp)
c.756G>T (p.Glu252Asp)
c.618G>T (p.Glu206Asp)
c.6918G>T (p.Glu2306Asp)
Xg.154837630C=CA2466807423F8c.7023G= (p.Glu2341=)
c.756G= (p.Glu252=)
c.618G= (p.Glu206=)
c.6918G= (p.Glu2306=)
Xg.154837630C>GCA414896743F8c.7023G>C (p.Glu2341Asp)
c.756G>C (p.Glu252Asp)
c.618G>C (p.Glu206Asp)
c.6918G>C (p.Glu2306Asp)
Xg.154837630C>TCA10567722F8c.7023G>A (p.Glu2341=)
c.756G>A (p.Glu252=)
c.618G>A (p.Glu206=)
c.6918G>A (p.Glu2306=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154837631T>ACA414896749F8c.7022A>T (p.Glu2341Val)
c.755A>T (p.Glu252Val)
c.617A>T (p.Glu206Val)
c.6917A>T (p.Glu2306Val)
Xg.154837631T>CCA414896751F8c.7022A>G (p.Glu2341Gly)
c.755A>G (p.Glu252Gly)
c.617A>G (p.Glu206Gly)
c.6917A>G (p.Glu2306Gly)
Xg.154837631T>GCA414896755F8c.7022A>C (p.Glu2341Ala)
c.755A>C (p.Glu252Ala)
c.617A>C (p.Glu206Ala)
c.6917A>C (p.Glu2306Ala)
Xg.154837632C>ACA414896773F8c.7021G>T (p.Glu2341Ter)
c.754G>T (p.Glu252Ter)
c.616G>T (p.Glu206Ter)
c.6916G>T (p.Glu2306Ter)
Xg.154837632C=CA2466807424F8c.7021G= (p.Glu2341=)
c.754G= (p.Glu252=)
c.616G= (p.Glu206=)
c.6916G= (p.Glu2306=)
Xg.154837632C>GCA414896760F8c.7021G>C (p.Glu2341Gln)
c.754G>C (p.Glu252Gln)
c.616G>C (p.Glu206Gln)
c.6916G>C (p.Glu2306Gln)
Xg.154837632C>TCA414896766F8c.7021G>A (p.Glu2341Lys)
c.754G>A (p.Glu252Lys)
c.616G>A (p.Glu206Lys)
c.6916G>A (p.Glu2306Lys)
 ClinVar dbSNP
Xg.154837633C>ACA414896774F8c.7020G>T (p.Met2340Ile)
c.753G>T (p.Met251Ile)
c.615G>T (p.Met205Ile)
c.6915G>T (p.Met2305Ile)
Xg.154837633C>GCA414896775F8c.7020G>C (p.Met2340Ile)
c.753G>C (p.Met251Ile)
c.615G>C (p.Met205Ile)
c.6915G>C (p.Met2305Ile)
Xg.154837633C>TCA414896776F8c.7020G>A (p.Met2340Ile)
c.753G>A (p.Met251Ile)
c.615G>A (p.Met205Ile)
c.6915G>A (p.Met2305Ile)
Xg.154837634A>CCA414896780F8c.7019T>G (p.Met2340Arg)
c.752T>G (p.Met251Arg)
c.614T>G (p.Met205Arg)
c.6914T>G (p.Met2305Arg)
Xg.154837634A>GCA414896782F8c.7019T>C (p.Met2340Thr)
c.752T>C (p.Met251Thr)
c.614T>C (p.Met205Thr)
c.6914T>C (p.Met2305Thr)
Xg.154837634A>TCA414896786F8c.7019T>A (p.Met2340Lys)
c.752T>A (p.Met251Lys)
c.614T>A (p.Met205Lys)
c.6914T>A (p.Met2305Lys)
Xg.154837635T>ACA414896790F8c.7018A>T (p.Met2340Leu)
c.751A>T (p.Met251Leu)
c.613A>T (p.Met205Leu)
c.6913A>T (p.Met2305Leu)
 gnomAD v4
Xg.154837635T>CCA10567723F8c.7018A>G (p.Met2340Val)
c.751A>G (p.Met251Val)
c.613A>G (p.Met205Val)
c.6913A>G (p.Met2305Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154837635T>GCA414896797F8c.7018A>C (p.Met2340Leu)
c.751A>C (p.Met251Leu)
c.613A>C (p.Met205Leu)
c.6913A>C (p.Met2305Leu)
Xg.154837635T=CA2466807425F8c.7018A= (p.Met2340=)
c.751A= (p.Met251=)
c.613A= (p.Met205=)
c.6913A= (p.Met2305=)
Xg.154837636C>ACA414896801F8c.7017G>T (p.Arg2339Ser)
c.750G>T (p.Arg250Ser)
c.612G>T (p.Arg204Ser)
c.6912G>T (p.Arg2304Ser)
Xg.154837636C>GCA414896815F8c.7017G>C (p.Arg2339Ser)
c.750G>C (p.Arg250Ser)
c.612G>C (p.Arg204Ser)
c.6912G>C (p.Arg2304Ser)
Xg.154837636C>TCA519355198F8c.7017G>A (p.Arg2339=)
c.750G>A (p.Arg250=)
c.612G>A (p.Arg204=)
c.6912G>A (p.Arg2304=)
Xg.154837637C>ACA414896828F8c.7016G>T (p.Arg2339Met)
c.749G>T (p.Arg250Met)
c.611G>T (p.Arg204Met)
c.6911G>T (p.Arg2304Met)
Xg.154837637C>GCA414896827F8c.7016G>C (p.Arg2339Thr)
c.749G>C (p.Arg250Thr)
c.611G>C (p.Arg204Thr)
c.6911G>C (p.Arg2304Thr)
Xg.154837637C>TCA414896826F8c.7016G>A (p.Arg2339Lys)
c.749G>A (p.Arg250Lys)
c.611G>A (p.Arg204Lys)
c.6911G>A (p.Arg2304Lys)
Xg.154837638T>ACA414896830F8c.7015A>T (p.Arg2339Trp)
c.748A>T (p.Arg250Trp)
c.610A>T (p.Arg204Trp)
c.6910A>T (p.Arg2304Trp)
Xg.154837638T>CCA414896832F8c.7015A>G (p.Arg2339Gly)
c.748A>G (p.Arg250Gly)
c.610A>G (p.Arg204Gly)
c.6910A>G (p.Arg2304Gly)
Xg.154837638T>GCA519355201F8c.7015A>C (p.Arg2339=)
c.748A>C (p.Arg250=)
c.610A>C (p.Arg204=)
c.6910A>C (p.Arg2304=)
Xg.154837639C>ACA519355202F8c.7014G>T (p.Leu2338=)
c.747G>T (p.Leu249=)
c.609G>T (p.Leu203=)
c.6909G>T (p.Leu2303=)
Xg.154837639C>GCA519355203F8c.7014G>C (p.Leu2338=)
c.747G>C (p.Leu249=)
c.609G>C (p.Leu203=)
c.6909G>C (p.Leu2303=)
 COSMIC COSMIC
Xg.154837639C>TCA519355204F8c.7014G>A (p.Leu2338=)
c.747G>A (p.Leu249=)
c.609G>A (p.Leu203=)
c.6909G>A (p.Leu2303=)
Xg.154837640delCA2695237103F8c.7013del (p.Leu2338ArgfsTer?)
c.746del (p.Leu249ArgfsTer?)
c.608del (p.Leu203ArgfsTer?)
c.6908del (p.Leu2303ArgfsTer?)
Xg.154837640A>CCA414896836F8c.7013T>G (p.Leu2338Arg)
c.746T>G (p.Leu249Arg)
c.608T>G (p.Leu203Arg)
c.6908T>G (p.Leu2303Arg)
Xg.154837640A>GCA414896850F8c.7013T>C (p.Leu2338Pro)
c.746T>C (p.Leu249Pro)
c.608T>C (p.Leu203Pro)
c.6908T>C (p.Leu2303Pro)
Xg.154837640A>TCA414896854F8c.7013T>A (p.Leu2338Gln)
c.746T>A (p.Leu249Gln)
c.608T>A (p.Leu203Gln)
c.6908T>A (p.Leu2303Gln)
Xg.154837641G>ACA519355205F8c.7012C>T (p.Leu2338=)
c.745C>T (p.Leu249=)
c.607C>T (p.Leu203=)
c.6907C>T (p.Leu2303=)
 COSMIC COSMIC
Xg.154837641G>CCA414896856F8c.7012C>G (p.Leu2338Val)
c.745C>G (p.Leu249Val)
c.607C>G (p.Leu203Val)
c.6907C>G (p.Leu2303Val)
Xg.154837641G>TCA414896858F8c.7012C>A (p.Leu2338Met)
c.745C>A (p.Leu249Met)
c.607C>A (p.Leu203Met)
c.6907C>A (p.Leu2303Met)
Xg.154837643delCA2695237104F8c.7012del (p.Leu2338Ter)
c.745del (p.Leu249Ter)
c.607del (p.Leu203Ter)
c.6907del (p.Leu2303Ter)
Xg.154837642G>ACA519355207F8c.7011C>T (p.Ala2337=)
c.744C>T (p.Ala248=)
c.606C>T (p.Ala202=)
c.6906C>T (p.Ala2302=)
 gnomAD v4
Xg.154837642G>CCA519355209F8c.7011C>G (p.Ala2337=)
c.744C>G (p.Ala248=)
c.606C>G (p.Ala202=)
c.6906C>G (p.Ala2302=)
Xg.154837642G>TCA519355210F8c.7011C>A (p.Ala2337=)
c.744C>A (p.Ala248=)
c.606C>A (p.Ala202=)
c.6906C>A (p.Ala2302=)
Xg.154837643G>ACA414896863F8c.7010C>T (p.Ala2337Val)
c.743C>T (p.Ala248Val)
c.605C>T (p.Ala202Val)
c.6905C>T (p.Ala2302Val)
 gnomAD v4
Xg.154837643G>CCA414896865F8c.7010C>G (p.Ala2337Gly)
c.743C>G (p.Ala248Gly)
c.605C>G (p.Ala202Gly)
c.6905C>G (p.Ala2302Gly)
Xg.154837643G>TCA414896866F8c.7010C>A (p.Ala2337Asp)
c.743C>A (p.Ala248Asp)
c.605C>A (p.Ala202Asp)
c.6905C>A (p.Ala2302Asp)
Xg.154837644C>ACA414896867F8c.7009G>T (p.Ala2337Ser)
c.742G>T (p.Ala248Ser)
c.604G>T (p.Ala202Ser)
c.6904G>T (p.Ala2302Ser)
 COSMIC COSMIC
Xg.154837644C>GCA414896869F8c.7009G>C (p.Ala2337Pro)
c.742G>C (p.Ala248Pro)
c.604G>C (p.Ala202Pro)
c.6904G>C (p.Ala2302Pro)
Xg.154837644C>TCA414896873F8c.7009G>A (p.Ala2337Thr)
c.742G>A (p.Ala248Thr)
c.604G>A (p.Ala202Thr)
c.6904G>A (p.Ala2302Thr)
Xg.154837645A>CCA414896877F8c.7008T>G (p.Ile2336Met)
c.741T>G (p.Ile247Met)
c.603T>G (p.Ile201Met)
c.6903T>G (p.Ile2301Met)
Xg.154837645A>GCA519355213F8c.7008T>C (p.Ile2336=)
c.741T>C (p.Ile247=)
c.603T>C (p.Ile201=)
c.6903T>C (p.Ile2301=)
Xg.154837645A>TCA519355215F8c.7008T>A (p.Ile2336=)
c.741T>A (p.Ile247=)
c.603T>A (p.Ile201=)
c.6903T>A (p.Ile2301=)
Xg.154837646A>CCA414896883F8c.7007T>G (p.Ile2336Ser)
c.740T>G (p.Ile247Ser)
c.602T>G (p.Ile201Ser)
c.6902T>G (p.Ile2301Ser)
Xg.154837646A>GCA414896880F8c.7007T>C (p.Ile2336Thr)
c.740T>C (p.Ile247Thr)
c.602T>C (p.Ile201Thr)
c.6902T>C (p.Ile2301Thr)
Xg.154837646A>TCA414896881F8c.7007T>A (p.Ile2336Asn)
c.740T>A (p.Ile247Asn)
c.602T>A (p.Ile201Asn)
c.6902T>A (p.Ile2301Asn)
Xg.154837647T>ACA414896884F8c.7006A>T (p.Ile2336Phe)
c.739A>T (p.Ile247Phe)
c.601A>T (p.Ile201Phe)
c.6901A>T (p.Ile2301Phe)
Xg.154837647T>CCA10567724F8c.7006A>G (p.Ile2336Val)
c.739A>G (p.Ile247Val)
c.601A>G (p.Ile201Val)
c.6901A>G (p.Ile2301Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154837647T>GCA414896885F8c.7006A>C (p.Ile2336Leu)
c.739A>C (p.Ile247Leu)
c.601A>C (p.Ile201Leu)
c.6901A>C (p.Ile2301Leu)
Xg.154837647T=CA2466807426F8c.7006A= (p.Ile2336=)
c.739A= (p.Ile247=)
c.601A= (p.Ile201=)
c.6901A= (p.Ile2301=)
Xg.154837647dupCA2695237105F8c.7006dup (p.Ile2336AsnfsTer?)
c.739dup (p.Ile247AsnfsTer?)
c.601dup (p.Ile201AsnfsTer?)
c.6901dup (p.Ile2301AsnfsTer?)
Xg.154837648C>ACA414896888F8c.7005G>T (p.Gln2335His)
c.738G>T (p.Gln246His)
c.600G>T (p.Gln200His)
c.6900G>T (p.Gln2300His)
Xg.154837648C>GCA414896890F8c.7005G>C (p.Gln2335His)
c.738G>C (p.Gln246His)
c.600G>C (p.Gln200His)
c.6900G>C (p.Gln2300His)
Xg.154837648C>TCA519355218F8c.7005G>A (p.Gln2335=)
c.738G>A (p.Gln246=)
c.600G>A (p.Gln200=)
c.6900G>A (p.Gln2300=)
 COSMIC COSMIC
Xg.154837649T>ACA414896894F8c.7004A>T (p.Gln2335Leu)
c.737A>T (p.Gln246Leu)
c.599A>T (p.Gln200Leu)
c.6899A>T (p.Gln2300Leu)
Xg.154837649T>CCA414896897F8c.7004A>G (p.Gln2335Arg)
c.737A>G (p.Gln246Arg)
c.599A>G (p.Gln200Arg)
c.6899A>G (p.Gln2300Arg)
Xg.154837649T>GCA414896900F8c.7004A>C (p.Gln2335Pro)
c.737A>C (p.Gln246Pro)
c.599A>C (p.Gln200Pro)
c.6899A>C (p.Gln2300Pro)
Xg.154837650G>ACA414896912F8c.7003C>T (p.Gln2335Ter)
c.736C>T (p.Gln246Ter)
c.598C>T (p.Gln200Ter)
c.6898C>T (p.Gln2300Ter)
Xg.154837650G>CCA414896914F8c.7003C>G (p.Gln2335Glu)
c.736C>G (p.Gln246Glu)
c.598C>G (p.Gln200Glu)
c.6898C>G (p.Gln2300Glu)
Xg.154837650G>TCA414896919F8c.7003C>A (p.Gln2335Lys)
c.736C>A (p.Gln246Lys)
c.598C>A (p.Gln200Lys)
c.6898C>A (p.Gln2300Lys)
Xg.154837651G>ACA519355223F8c.7002C>T (p.His2334=)
c.735C>T (p.His245=)
c.597C>T (p.His199=)
c.6897C>T (p.His2299=)
Xg.154837651G>CCA414896922F8c.7002C>G (p.His2334Gln)
c.735C>G (p.His245Gln)
c.597C>G (p.His199Gln)
c.6897C>G (p.His2299Gln)
Xg.154837651G>TCA414896924F8c.7002C>A (p.His2334Gln)
c.735C>A (p.His245Gln)
c.597C>A (p.His199Gln)
c.6897C>A (p.His2299Gln)
Xg.154837652T>ACA414896927F8c.7001A>T (p.His2334Leu)
c.734A>T (p.His245Leu)
c.596A>T (p.His199Leu)
c.6896A>T (p.His2299Leu)
Xg.154837652T>CCA414896931F8c.7001A>G (p.His2334Arg)
c.734A>G (p.His245Arg)
c.596A>G (p.His199Arg)
c.6896A>G (p.His2299Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.154837652T>GCA414896935F8c.7001A>C (p.His2334Pro)
c.734A>C (p.His245Pro)
c.596A>C (p.His199Pro)
c.6896A>C (p.His2299Pro)
 dbSNP gnomAD v4
Xg.154837652T=CA2466807427F8c.7001A= (p.His2334=)
c.734A= (p.His245=)
c.596A= (p.His199=)
c.6896A= (p.His2299=)
Xg.154837653G>ACA414896940F8c.7000C>T (p.His2334Tyr)
c.733C>T (p.His245Tyr)
c.595C>T (p.His199Tyr)
c.6895C>T (p.His2299Tyr)
Xg.154837653G>CCA414896943F8c.7000C>G (p.His2334Asp)
c.733C>G (p.His245Asp)
c.595C>G (p.His199Asp)
c.6895C>G (p.His2299Asp)
Xg.154837653G>TCA414896946F8c.7000C>A (p.His2334Asn)
c.733C>A (p.His245Asn)
c.595C>A (p.His199Asn)
c.6895C>A (p.His2299Asn)
Xg.154837654C>ACA519355227F8c.6999G>T (p.Val2333=)
c.732G>T (p.Val244=)
c.594G>T (p.Val198=)
c.6894G>T (p.Val2298=)
Xg.154837654C>GCA519355229F8c.6999G>C (p.Val2333=)
c.732G>C (p.Val244=)
c.594G>C (p.Val198=)
c.6894G>C (p.Val2298=)
Xg.154837654C>TCA519355230F8c.6999G>A (p.Val2333=)
c.732G>A (p.Val244=)
c.594G>A (p.Val198=)
c.6894G>A (p.Val2298=)
Xg.154837655A>CCA414896950F8c.6998T>G (p.Val2333Gly)
c.731T>G (p.Val244Gly)
c.593T>G (p.Val198Gly)
c.6893T>G (p.Val2298Gly)
Xg.154837655A>GCA414896955F8c.6998T>C (p.Val2333Ala)
c.731T>C (p.Val244Ala)
c.593T>C (p.Val198Ala)
c.6893T>C (p.Val2298Ala)
Xg.154837655A>TCA414896959F8c.6998T>A (p.Val2333Glu)
c.731T>A (p.Val244Glu)
c.593T>A (p.Val198Glu)
c.6893T>A (p.Val2298Glu)
 COSMIC COSMIC
Xg.154837655_154837656delinsACCA2466807428F8c.6997_6998delinsGT (p.Val2333=)
c.730_731delinsGT (p.Val244=)
c.592_593delinsGT (p.Val198=)
c.6892_6893delinsGT (p.Val2298=)
Xg.154837656C>ACA414896964F8c.6997G>T (p.Val2333Leu)
c.730G>T (p.Val244Leu)
c.592G>T (p.Val198Leu)
c.6892G>T (p.Val2298Leu)
 gnomAD v4
Xg.154837656C>GCA414896967F8c.6997G>C (p.Val2333Leu)
c.730G>C (p.Val244Leu)
c.592G>C (p.Val198Leu)
c.6892G>C (p.Val2298Leu)
Xg.154837656C>TCA414896970F8c.6997G>A (p.Val2333Met)
c.730G>A (p.Val244Met)
c.592G>A (p.Val198Met)
c.6892G>A (p.Val2298Met)
Xg.154837658delCA873360890F8c.6997del (p.Val2333CysfsTer6)
c.730del (p.Val244CysfsTer6)
c.592del (p.Val198CysfsTer6)
c.6892del (p.Val2298CysfsTer6)
 dbSNP
Xg.154837657C>ACA414896981F8c.6996G>T (p.Trp2332Cys)
c.729G>T (p.Trp243Cys)
c.591G>T (p.Trp197Cys)
c.6891G>T (p.Trp2297Cys)
Xg.154837657C=CA2466807429F8c.6996G= (p.Trp2332=)
c.729G= (p.Trp243=)
c.591G= (p.Trp197=)
c.6891G= (p.Trp2297=)
Xg.154837657C>GCA414896976F8c.6996G>C (p.Trp2332Cys)
c.729G>C (p.Trp243Cys)
c.591G>C (p.Trp197Cys)
c.6891G>C (p.Trp2297Cys)
 dbSNP
Xg.154837657C>TCA414896979F8c.6996G>A (p.Trp2332Ter)
c.729G>A (p.Trp243Ter)
c.591G>A (p.Trp197Ter)
c.6891G>A (p.Trp2297Ter)
Xg.154837658C>ACA414896987F8c.6995G>T (p.Trp2332Leu)
c.728G>T (p.Trp243Leu)
c.590G>T (p.Trp197Leu)
c.6890G>T (p.Trp2297Leu)
Xg.154837658C=CA2466807430F8c.6995G= (p.Trp2332=)
c.728G= (p.Trp243=)
c.590G= (p.Trp197=)
c.6890G= (p.Trp2297=)
Xg.154837658C>GCA414896990F8c.6995G>C (p.Trp2332Ser)
c.728G>C (p.Trp243Ser)
c.590G>C (p.Trp197Ser)
c.6890G>C (p.Trp2297Ser)
Xg.154837658C>TCA414896995F8c.6995G>A (p.Trp2332Ter)
c.728G>A (p.Trp243Ter)
c.590G>A (p.Trp197Ter)
c.6890G>A (p.Trp2297Ter)
 ClinVar dbSNP
Xg.154837659A>CCA414897000F8c.6994T>G (p.Trp2332Gly)
c.727T>G (p.Trp243Gly)
c.589T>G (p.Trp197Gly)
c.6889T>G (p.Trp2297Gly)
Xg.154837659A>GCA414897002F8c.6994T>C (p.Trp2332Arg)
c.727T>C (p.Trp243Arg)
c.589T>C (p.Trp197Arg)
c.6889T>C (p.Trp2297Arg)
Xg.154837659A>TCA414897005F8c.6994T>A (p.Trp2332Arg)
c.727T>A (p.Trp243Arg)
c.589T>A (p.Trp197Arg)
c.6889T>A (p.Trp2297Arg)
Xg.154837660dupCA2695237106F8c.6994dup (p.Trp2332LeufsTer?)
c.727dup (p.Trp243LeufsTer?)
c.589dup (p.Trp197LeufsTer?)
c.6889dup (p.Trp2297LeufsTer?)
Xg.154837660A=CA2466807431F8c.6993T= (p.Ser2331=)
c.726T= (p.Ser242=)
c.588T= (p.Ser196=)
c.6888T= (p.Ser2296=)
Xg.154837660A>CCA414897015F8c.6993T>G (p.Ser2331Arg)
c.726T>G (p.Ser242Arg)
c.588T>G (p.Ser196Arg)
c.6888T>G (p.Ser2296Arg)
 dbSNP
Xg.154837660A>GCA519355234F8c.6993T>C (p.Ser2331=)
c.726T>C (p.Ser242=)
c.588T>C (p.Ser196=)
c.6888T>C (p.Ser2296=)
Xg.154837660A>TCA414897017F8c.6993T>A (p.Ser2331Arg)
c.726T>A (p.Ser242Arg)
c.588T>A (p.Ser196Arg)
c.6888T>A (p.Ser2296Arg)
Xg.154837661C>ACA414897022F8c.6992G>T (p.Ser2331Ile)
c.725G>T (p.Ser242Ile)
c.587G>T (p.Ser196Ile)
c.6887G>T (p.Ser2296Ile)
Xg.154837661C>GCA414897025F8c.6992G>C (p.Ser2331Thr)
c.725G>C (p.Ser242Thr)
c.587G>C (p.Ser196Thr)
c.6887G>C (p.Ser2296Thr)
Xg.154837661C>TCA414897028F8c.6992G>A (p.Ser2331Asn)
c.725G>A (p.Ser242Asn)
c.587G>A (p.Ser196Asn)
c.6887G>A (p.Ser2296Asn)
Xg.154837662T>ACA414897038F8c.6991A>T (p.Ser2331Cys)
c.724A>T (p.Ser242Cys)
c.586A>T (p.Ser196Cys)
c.6886A>T (p.Ser2296Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154837662T>CCA414897035F8c.6991A>G (p.Ser2331Gly)
c.724A>G (p.Ser242Gly)
c.586A>G (p.Ser196Gly)
c.6886A>G (p.Ser2296Gly)
Xg.154837662T>GCA414897031F8c.6991A>C (p.Ser2331Arg)
c.724A>C (p.Ser242Arg)
c.586A>C (p.Ser196Arg)
c.6886A>C (p.Ser2296Arg)
Xg.154837662T=CA2466807432F8c.6991A= (p.Ser2331=)
c.724A= (p.Ser242=)
c.586A= (p.Ser196=)
c.6886A= (p.Ser2296=)
Xg.154837663C>ACA414897041F8c.6990G>T (p.Gln2330His)
c.723G>T (p.Gln241His)
c.585G>T (p.Gln195His)
c.6885G>T (p.Gln2295His)
Xg.154837663C>GCA414897046F8c.6990G>C (p.Gln2330His)
c.723G>C (p.Gln241His)
c.585G>C (p.Gln195His)
c.6885G>C (p.Gln2295His)
 COSMIC COSMIC
Xg.154837663C>TCA519355235F8c.6990G>A (p.Gln2330=)
c.723G>A (p.Gln241=)
c.585G>A (p.Gln195=)
c.6885G>A (p.Gln2295=)
Xg.154837664T>ACA414897051F8c.6989A>T (p.Gln2330Leu)
c.722A>T (p.Gln241Leu)
c.584A>T (p.Gln195Leu)
c.6884A>T (p.Gln2295Leu)
Xg.154837664T>CCA414897055F8c.6989A>G (p.Gln2330Arg)
c.722A>G (p.Gln241Arg)
c.584A>G (p.Gln195Arg)
c.6884A>G (p.Gln2295Arg)
 gnomAD v4
Xg.154837664T>GCA414897058F8c.6989A>C (p.Gln2330Pro)
c.722A>C (p.Gln241Pro)
c.584A>C (p.Gln195Pro)
c.6884A>C (p.Gln2295Pro)
Xg.154837664_154837665delCA2695237107F8c.6988_6989del (p.Gln2330GlufsTer?)
c.721_722del (p.Gln241GlufsTer?)
c.583_584del (p.Gln195GlufsTer?)
c.6883_6884del (p.Gln2295GlufsTer?)
Xg.154837665G>ACA414897062F8c.6988C>T (p.Gln2330Ter)
c.721C>T (p.Gln241Ter)
c.583C>T (p.Gln195Ter)
c.6883C>T (p.Gln2295Ter)
Xg.154837665G>CCA414897066F8c.6988C>G (p.Gln2330Glu)
c.721C>G (p.Gln241Glu)
c.583C>G (p.Gln195Glu)
c.6883C>G (p.Gln2295Glu)
Xg.154837665G>TCA414897069F8c.6988C>A (p.Gln2330Lys)
c.721C>A (p.Gln241Lys)
c.583C>A (p.Gln195Lys)
c.6883C>A (p.Gln2295Lys)
Xg.154837669dupCA2695237109F8c.6988dup (p.Gln2330ProfsTer?)
c.721dup (p.Gln241ProfsTer?)
c.583dup (p.Gln195ProfsTer?)
c.6883dup (p.Gln2295ProfsTer?)
Xg.154837669delCA2695237108F8c.6988del (p.Gln2330ArgfsTer9)
c.721del (p.Gln241ArgfsTer9)
c.583del (p.Gln195ArgfsTer9)
c.6883del (p.Gln2295ArgfsTer9)
Xg.154837666G>ACA519355238F8c.6987C>T (p.Pro2329=)
c.720C>T (p.Pro240=)
c.582C>T (p.Pro194=)
c.6882C>T (p.Pro2294=)
Xg.154837666G>CCA519355239F8c.6987C>G (p.Pro2329=)
c.720C>G (p.Pro240=)
c.582C>G (p.Pro194=)
c.6882C>G (p.Pro2294=)
Xg.154837666G>TCA519355240F8c.6987C>A (p.Pro2329=)
c.720C>A (p.Pro240=)
c.582C>A (p.Pro194=)
c.6882C>A (p.Pro2294=)
Xg.154837667G>ACA414897072F8c.6986C>T (p.Pro2329Leu)
c.719C>T (p.Pro240Leu)
c.581C>T (p.Pro194Leu)
c.6881C>T (p.Pro2294Leu)
 dbSNP
Xg.154837667G>CCA414897075F8c.6986C>G (p.Pro2329Arg)
c.719C>G (p.Pro240Arg)
c.581C>G (p.Pro194Arg)
c.6881C>G (p.Pro2294Arg)
Xg.154837667G=CA2466807433F8c.6986C= (p.Pro2329=)
c.719C= (p.Pro240=)
c.581C= (p.Pro194=)
c.6881C= (p.Pro2294=)
Xg.154837667G>TCA414897078F8c.6986C>A (p.Pro2329His)
c.719C>A (p.Pro240His)
c.581C>A (p.Pro194His)
c.6881C>A (p.Pro2294His)
Xg.154837668G>ACA414897082F8c.6985C>T (p.Pro2329Ser)
c.718C>T (p.Pro240Ser)
c.580C>T (p.Pro194Ser)
c.6880C>T (p.Pro2294Ser)
 dbSNP
Xg.154837668G>CCA414897086F8c.6985C>G (p.Pro2329Ala)
c.718C>G (p.Pro240Ala)
c.580C>G (p.Pro194Ala)
c.6880C>G (p.Pro2294Ala)
Xg.154837668G=CA2466807434F8c.6985C= (p.Pro2329=)
c.718C= (p.Pro240=)
c.580C= (p.Pro194=)
c.6880C= (p.Pro2294=)
Xg.154837668G>TCA414897088F8c.6985C>A (p.Pro2329Thr)
c.718C>A (p.Pro240Thr)
c.580C>A (p.Pro194Thr)
c.6880C>A (p.Pro2294Thr)
Xg.154837669G>ACA10567725F8c.6984C>T (p.His2328=)
c.717C>T (p.His239=)
c.579C>T (p.His193=)
c.6879C>T (p.His2293=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154837669G>CCA414897099F8c.6984C>G (p.His2328Gln)
c.717C>G (p.His239Gln)
c.579C>G (p.His193Gln)
c.6879C>G (p.His2293Gln)
Xg.154837669G=CA2466807435F8c.6984C= (p.His2328=)
c.717C= (p.His239=)
c.579C= (p.His193=)
c.6879C= (p.His2293=)
Xg.154837669G>TCA414897097F8c.6984C>A (p.His2328Gln)
c.717C>A (p.His239Gln)
c.579C>A (p.His193Gln)
c.6879C>A (p.His2293Gln)
 gnomAD v4
Xg.154837670T>ACA414897101F8c.6983A>T (p.His2328Leu)
c.716A>T (p.His239Leu)
c.578A>T (p.His193Leu)
c.6878A>T (p.His2293Leu)
Xg.154837670T>CCA414897105F8c.6983A>G (p.His2328Arg)
c.716A>G (p.His239Arg)
c.578A>G (p.His193Arg)
c.6878A>G (p.His2293Arg)
Xg.154837670T>GCA414897108F8c.6983A>C (p.His2328Pro)
c.716A>C (p.His239Pro)
c.578A>C (p.His193Pro)
c.6878A>C (p.His2293Pro)
Xg.154837671G>ACA414897115F8c.6982C>T (p.His2328Tyr)
c.715C>T (p.His239Tyr)
c.577C>T (p.His193Tyr)
c.6877C>T (p.His2293Tyr)
Xg.154837671G>CCA414897117F8c.6982C>G (p.His2328Asp)
c.715C>G (p.His239Asp)
c.577C>G (p.His193Asp)
c.6877C>G (p.His2293Asp)
Xg.154837671G>TCA414897119F8c.6982C>A (p.His2328Asn)
c.715C>A (p.His239Asn)
c.577C>A (p.His193Asn)
c.6877C>A (p.His2293Asn)
Xg.154837672A>CCA414897122F8c.6981T>G (p.Ile2327Met)
c.714T>G (p.Ile238Met)
c.576T>G (p.Ile192Met)
c.6876T>G (p.Ile2292Met)
Xg.154837672A>GCA519355242F8c.6981T>C (p.Ile2327=)
c.714T>C (p.Ile238=)
c.576T>C (p.Ile192=)
c.6876T>C (p.Ile2292=)
Xg.154837672A>TCA519355243F8c.6981T>A (p.Ile2327=)
c.714T>A (p.Ile238=)
c.576T>A (p.Ile192=)
c.6876T>A (p.Ile2292=)
Xg.154837673A=CA2466807436F8c.6980T= (p.Ile2327=)
c.713T= (p.Ile238=)
c.575T= (p.Ile192=)
c.6875T= (p.Ile2292=)
Xg.154837673A>CCA414897126F8c.6980T>G (p.Ile2327Ser)
c.713T>G (p.Ile238Ser)
c.575T>G (p.Ile192Ser)
c.6875T>G (p.Ile2292Ser)
Xg.154837673A>GCA414897129F8c.6980T>C (p.Ile2327Thr)
c.713T>C (p.Ile238Thr)
c.575T>C (p.Ile192Thr)
c.6875T>C (p.Ile2292Thr)
 dbSNP
Xg.154837673A>TCA414897132F8c.6980T>A (p.Ile2327Asn)
c.713T>A (p.Ile238Asn)
c.575T>A (p.Ile192Asn)
c.6875T>A (p.Ile2292Asn)
Xg.154837673_154837681delCA2695237110F8c.6972_6980del (p.Leu2325_Ile2327del)
c.705_713del (p.Leu236_Ile238del)
c.567_575del (p.Leu190_Ile192del)
c.6867_6875del (p.Leu2290_Ile2292del)
Xg.154837674T>ACA414897151F8c.6979A>T (p.Ile2327Phe)
c.712A>T (p.Ile238Phe)
c.574A>T (p.Ile192Phe)
c.6874A>T (p.Ile2292Phe)
 gnomAD v4
Xg.154837674T>CCA414897139F8c.6979A>G (p.Ile2327Val)
c.712A>G (p.Ile238Val)
c.574A>G (p.Ile192Val)
c.6874A>G (p.Ile2292Val)
 gnomAD v4
Xg.154837674T>GCA414897136F8c.6979A>C (p.Ile2327Leu)
c.712A>C (p.Ile238Leu)
c.574A>C (p.Ile192Leu)
c.6874A>C (p.Ile2292Leu)
Xg.154837675T>ACA519355247F8c.6978A>T (p.Arg2326=)
c.711A>T (p.Arg237=)
c.573A>T (p.Arg191=)
c.6873A>T (p.Arg2291=)
Xg.154837675T>CCA519355248F8c.6978A>G (p.Arg2326=)
c.711A>G (p.Arg237=)
c.573A>G (p.Arg191=)
c.6873A>G (p.Arg2291=)
Xg.154837675T>GCA519355249F8c.6978A>C (p.Arg2326=)
c.711A>C (p.Arg237=)
c.573A>C (p.Arg191=)
c.6873A>C (p.Arg2291=)
Xg.154837676C>ACA255018F8c.6977G>T (p.Arg2326Leu)
c.710G>T (p.Arg237Leu)
c.572G>T (p.Arg191Leu)
c.6872G>T (p.Arg2291Leu)
 ClinVar dbSNP
Xg.154837676C=CA2466807437F8c.6977G= (p.Arg2326=)
c.710G= (p.Arg237=)
c.572G= (p.Arg191=)
c.6872G= (p.Arg2291=)
Xg.154837676C>GCA414897157F8c.6977G>C (p.Arg2326Pro)
c.710G>C (p.Arg237Pro)
c.572G>C (p.Arg191Pro)
c.6872G>C (p.Arg2291Pro)
 dbSNP
Xg.154837676C>TCA255027F8c.6977G>A (p.Arg2326Gln)
c.710G>A (p.Arg237Gln)
c.572G>A (p.Arg191Gln)
c.6872G>A (p.Arg2291Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154837679_154837687delCA2695237111F8c.6969_6977del (p.Tyr2324_Arg2326del)
c.702_710del (p.Tyr235_Arg237del)
c.564_572del (p.Tyr189_Arg191del)
c.6864_6872del (p.Tyr2289_Arg2291del)
Xg.154837677G>ACA255007F8c.6976C>T (p.Arg2326Ter)
c.709C>T (p.Arg237Ter)
c.571C>T (p.Arg191Ter)
c.6871C>T (p.Arg2291Ter)
 ClinVar dbSNP COSMIC COSMIC
Xg.154837677G>CCA414897172F8c.6976C>G (p.Arg2326Gly)
c.709C>G (p.Arg237Gly)
c.571C>G (p.Arg191Gly)
c.6871C>G (p.Arg2291Gly)
Xg.154837677G=CA2466807438F8c.6976C= (p.Arg2326=)
c.709C= (p.Arg237=)
c.571C= (p.Arg191=)
c.6871C= (p.Arg2291=)
Xg.154837677G>TCA519355250F8c.6976C>A (p.Arg2326=)
c.709C>A (p.Arg237=)
c.571C>A (p.Arg191=)
c.6871C>A (p.Arg2291=)
Xg.154837678A>CCA519355251F8c.6975T>G (p.Leu2325=)
c.708T>G (p.Leu236=)
c.570T>G (p.Leu190=)
c.6870T>G (p.Leu2290=)
Xg.154837678A>GCA519355252F8c.6975T>C (p.Leu2325=)
c.708T>C (p.Leu236=)
c.570T>C (p.Leu190=)
c.6870T>C (p.Leu2290=)
Xg.154837678A>TCA519355253F8c.6975T>A (p.Leu2325=)
c.708T>A (p.Leu236=)
c.570T>A (p.Leu190=)
c.6870T>A (p.Leu2290=)
Xg.154837679delCA2573055171F8c.6975del (p.Arg2326GlufsTer13)
c.708del (p.Arg237GlufsTer13)
c.570del (p.Arg191GlufsTer13)
c.6870del (p.Arg2291GlufsTer13)
 ClinVar dbSNP
Xg.154837679A>CCA414897176F8c.6974T>G (p.Leu2325Arg)
c.707T>G (p.Leu236Arg)
c.569T>G (p.Leu190Arg)
c.6869T>G (p.Leu2290Arg)
Xg.154837679A>GCA414897180F8c.6974T>C (p.Leu2325Pro)
c.707T>C (p.Leu236Pro)
c.569T>C (p.Leu190Pro)
c.6869T>C (p.Leu2290Pro)
Xg.154837679A>TCA414897183F8c.6974T>A (p.Leu2325His)
c.707T>A (p.Leu236His)
c.569T>A (p.Leu190His)
c.6869T>A (p.Leu2290His)
Xg.154837680G>ACA414897188F8c.6973C>T (p.Leu2325Phe)
c.706C>T (p.Leu236Phe)
c.568C>T (p.Leu190Phe)
c.6868C>T (p.Leu2290Phe)
 gnomAD v4
Xg.154837680G>CCA414897194F8c.6973C>G (p.Leu2325Val)
c.706C>G (p.Leu236Val)
c.568C>G (p.Leu190Val)
c.6868C>G (p.Leu2290Val)
Xg.154837680G>TCA414897197F8c.6973C>A (p.Leu2325Ile)
c.706C>A (p.Leu236Ile)
c.568C>A (p.Leu190Ile)
c.6868C>A (p.Leu2290Ile)
Xg.154837681G>ACA519355255F8c.6972C>T (p.Tyr2324=)
c.705C>T (p.Tyr235=)
c.567C>T (p.Tyr189=)
c.6867C>T (p.Tyr2289=)
Xg.154837681G>CCA414897200F8c.6972C>G (p.Tyr2324Ter)
c.705C>G (p.Tyr235Ter)
c.567C>G (p.Tyr189Ter)
c.6867C>G (p.Tyr2289Ter)
Xg.154837681G=CA2466807439F8c.6972C= (p.Tyr2324=)
c.705C= (p.Tyr235=)
c.567C= (p.Tyr189=)
c.6867C= (p.Tyr2289=)
Xg.154837681G>TCA414897203F8c.6972C>A (p.Tyr2324Ter)
c.705C>A (p.Tyr235Ter)
c.567C>A (p.Tyr189Ter)
c.6867C>A (p.Tyr2289Ter)
 dbSNP
Xg.154837682T>ACA414897216F8c.6971A>T (p.Tyr2324Phe)
c.704A>T (p.Tyr235Phe)
c.566A>T (p.Tyr189Phe)
c.6866A>T (p.Tyr2289Phe)
Xg.154837682T>CCA414897210F8c.6971A>G (p.Tyr2324Cys)
c.704A>G (p.Tyr235Cys)
c.566A>G (p.Tyr189Cys)
c.6866A>G (p.Tyr2289Cys)
Xg.154837682T>GCA414897213F8c.6971A>C (p.Tyr2324Ser)
c.704A>C (p.Tyr235Ser)
c.566A>C (p.Tyr189Ser)
c.6866A>C (p.Tyr2289Ser)
Xg.154837683A>CCA414897220F8c.6970T>G (p.Tyr2324Asp)
c.703T>G (p.Tyr235Asp)
c.565T>G (p.Tyr189Asp)
c.6865T>G (p.Tyr2289Asp)
Xg.154837683A>GCA414897223F8c.6970T>C (p.Tyr2324His)
c.703T>C (p.Tyr235His)
c.565T>C (p.Tyr189His)
c.6865T>C (p.Tyr2289His)
Xg.154837683A>TCA414897226F8c.6970T>A (p.Tyr2324Asn)
c.703T>A (p.Tyr235Asn)
c.565T>A (p.Tyr189Asn)
c.6865T>A (p.Tyr2289Asn)
Xg.154837684G>ACA519355259F8c.6969C>T (p.Arg2323=)
c.702C>T (p.Arg234=)
c.564C>T (p.Arg188=)
c.6864C>T (p.Arg2288=)
Xg.154837684G>CCA519355260F8c.6969C>G (p.Arg2323=)
c.702C>G (p.Arg234=)
c.564C>G (p.Arg188=)
c.6864C>G (p.Arg2288=)
Xg.154837684G>TCA519355261F8c.6969C>A (p.Arg2323=)
c.702C>A (p.Arg234=)
c.564C>A (p.Arg188=)
c.6864C>A (p.Arg2288=)
Xg.154837685C>ACA414897232F8c.6968G>T (p.Arg2323Leu)
c.701G>T (p.Arg234Leu)
c.563G>T (p.Arg188Leu)
c.6863G>T (p.Arg2288Leu)
Xg.154837685C=CA2466807440F8c.6968G= (p.Arg2323=)
c.701G= (p.Arg234=)
c.563G= (p.Arg188=)
c.6863G= (p.Arg2288=)
Xg.154837685C>GCA414897240F8c.6968G>C (p.Arg2323Pro)
c.701G>C (p.Arg234Pro)
c.563G>C (p.Arg188Pro)
c.6863G>C (p.Arg2288Pro)
 ClinVar dbSNP
Xg.154837685C>TCA255226F8c.6968G>A (p.Arg2323His)
c.701G>A (p.Arg234His)
c.563G>A (p.Arg188His)
c.6863G>A (p.Arg2288His)
 ClinVar dbSNP
Xg.154837686G>ACA255225F8c.6967C>T (p.Arg2323Cys)
c.700C>T (p.Arg234Cys)
c.562C>T (p.Arg188Cys)
c.6862C>T (p.Arg2288Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154837686G>CCA414897249F8c.6967C>G (p.Arg2323Gly)
c.700C>G (p.Arg234Gly)
c.562C>G (p.Arg188Gly)
c.6862C>G (p.Arg2288Gly)
 ClinVar dbSNP
Xg.154837686G=CA2466807441F8c.6967C= (p.Arg2323=)
c.700C= (p.Arg234=)
c.562C= (p.Arg188=)
c.6862C= (p.Arg2288=)
Xg.154837686G>TCA414897252F8c.6967C>A (p.Arg2323Ser)
c.700C>A (p.Arg234Ser)
c.562C>A (p.Arg188Ser)
c.6862C>A (p.Arg2288Ser)
Xg.154837687A=CA2466807442F8c.6966T= (p.Thr2322=)
c.699T= (p.Thr233=)
c.561T= (p.Thr187=)
c.6861T= (p.Thr2287=)
Xg.154837687A>CCA519355265F8c.6966T>G (p.Thr2322=)
c.699T>G (p.Thr233=)
c.561T>G (p.Thr187=)
c.6861T>G (p.Thr2287=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154837687A>GCA519355266F8c.6966T>C (p.Thr2322=)
c.699T>C (p.Thr233=)
c.561T>C (p.Thr187=)
c.6861T>C (p.Thr2287=)
Xg.154837687A>TCA519355267F8c.6966T>A (p.Thr2322=)
c.699T>A (p.Thr233=)
c.561T>A (p.Thr187=)
c.6861T>A (p.Thr2287=)
Xg.154837690_154837693dupCA2695237112F8c.6963_6966dup (p.Arg2323AspfsTer?)
c.696_699dup (p.Arg234AspfsTer?)
c.558_561dup (p.Arg188AspfsTer?)
c.6858_6861dup (p.Arg2288AspfsTer?)
Xg.154837688G>ACA414897256F8c.6965C>T (p.Thr2322Ile)
c.698C>T (p.Thr233Ile)
c.560C>T (p.Thr187Ile)
c.6860C>T (p.Thr2287Ile)
Xg.154837688G>CCA414897260F8c.6965C>G (p.Thr2322Ser)
c.698C>G (p.Thr233Ser)
c.560C>G (p.Thr187Ser)
c.6860C>G (p.Thr2287Ser)
Xg.154837688G=CA2466807443F8c.6965C= (p.Thr2322=)
c.698C= (p.Thr233=)
c.560C= (p.Thr187=)
c.6860C= (p.Thr2287=)
Xg.154837688G>TCA414897299F8c.6965C>A (p.Thr2322Asn)
c.698C>A (p.Thr233Asn)
c.560C>A (p.Thr187Asn)
c.6860C>A (p.Thr2287Asn)
 dbSNP
Xg.154837689T>ACA414897313F8c.6964A>T (p.Thr2322Ser)
c.697A>T (p.Thr233Ser)
c.559A>T (p.Thr187Ser)
c.6859A>T (p.Thr2287Ser)
Xg.154837689T>CCA414897308F8c.6964A>G (p.Thr2322Ala)
c.697A>G (p.Thr233Ala)
c.559A>G (p.Thr187Ala)
c.6859A>G (p.Thr2287Ala)
Xg.154837689T>GCA414897306F8c.6964A>C (p.Thr2322Pro)
c.697A>C (p.Thr233Pro)
c.559A>C (p.Thr187Pro)
c.6859A>C (p.Thr2287Pro)
Xg.154837690C>ACA519355269F8c.6963G>T (p.Leu2321=)
c.696G>T (p.Leu232=)
c.558G>T (p.Leu186=)
c.6858G>T (p.Leu2286=)
Xg.154837690C>GCA519355270F8c.6963G>C (p.Leu2321=)
c.696G>C (p.Leu232=)
c.558G>C (p.Leu186=)
c.6858G>C (p.Leu2286=)
Xg.154837690C>TCA519355271F8c.6963G>A (p.Leu2321=)
c.696G>A (p.Leu232=)
c.558G>A (p.Leu186=)
c.6858G>A (p.Leu2286=)
Xg.154837691A>CCA414897317F8c.6962T>G (p.Leu2321Arg)
c.695T>G (p.Leu232Arg)
c.557T>G (p.Leu186Arg)
c.6857T>G (p.Leu2286Arg)
Xg.154837691A>GCA414897321F8c.6962T>C (p.Leu2321Pro)
c.695T>C (p.Leu232Pro)
c.557T>C (p.Leu186Pro)
c.6857T>C (p.Leu2286Pro)
Xg.154837691A>TCA414897324F8c.6962T>A (p.Leu2321Gln)
c.695T>A (p.Leu232Gln)
c.557T>A (p.Leu186Gln)
c.6857T>A (p.Leu2286Gln)
Xg.154837692G>ACA519355273F8c.6961C>T (p.Leu2321=)
c.694C>T (p.Leu232=)
c.556C>T (p.Leu186=)
c.6856C>T (p.Leu2286=)
Xg.154837692G>CCA414897326F8c.6961C>G (p.Leu2321Val)
c.694C>G (p.Leu232Val)
c.556C>G (p.Leu186Val)
c.6856C>G (p.Leu2286Val)
Xg.154837692G>TCA414897329F8c.6961C>A (p.Leu2321Met)
c.694C>A (p.Leu232Met)
c.556C>A (p.Leu186Met)
c.6856C>A (p.Leu2286Met)
Xg.154837693T>ACA414897334F8c.6960A>T (p.Leu2320Phe)
c.693A>T (p.Leu231Phe)
c.555A>T (p.Leu185Phe)
c.6855A>T (p.Leu2285Phe)
Xg.154837693T>CCA519355274F8c.6960A>G (p.Leu2320=)
c.693A>G (p.Leu231=)
c.555A>G (p.Leu185=)
c.6855A>G (p.Leu2285=)
Xg.154837693T>GCA414897335F8c.6960A>C (p.Leu2320Phe)
c.693A>C (p.Leu231Phe)
c.555A>C (p.Leu185Phe)
c.6855A>C (p.Leu2285Phe)
Xg.154837694A>CCA414897339F8c.6959T>G (p.Leu2320Ter)
c.692T>G (p.Leu231Ter)
c.554T>G (p.Leu185Ter)
c.6854T>G (p.Leu2285Ter)
 ClinVar dbSNP
Xg.154837694A>GCA414897342F8c.6959T>C (p.Leu2320Ser)
c.692T>C (p.Leu231Ser)
c.554T>C (p.Leu185Ser)
c.6854T>C (p.Leu2285Ser)
Xg.154837694A>TCA414897345F8c.6959T>A (p.Leu2320Ter)
c.692T>A (p.Leu231Ter)
c.554T>A (p.Leu185Ter)
c.6854T>A (p.Leu2285Ter)

Number of alleles fetched