Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.101726690T>ACA388711151FGF14c.544A>T (p.Lys182Ter)
c.427A>T (p.Lys143Ter)
c.*133A>T (n.*133A>T)
c.*348A>T (n.*348A>T)
c.*443A>T (n.*443A>T)
c.277A>T (p.Lys93Ter)
c.529A>T (p.Lys177Ter)
c.349A>T (p.Lys117Ter)
c.340A>T (p.Lys114Ter)
c.433A>T (p.Lys145Ter)
c.343A>T (p.Lys115Ter)
c.388A>T (p.Lys130Ter)
 ClinVar dbSNP
13g.101726690T>CCA388711152FGF14c.544A>G (p.Lys182Glu)
c.427A>G (p.Lys143Glu)
c.*133A>G (n.*133A>G)
c.*348A>G (n.*348A>G)
c.*443A>G (n.*443A>G)
c.277A>G (p.Lys93Glu)
c.529A>G (p.Lys177Glu)
c.349A>G (p.Lys117Glu)
c.340A>G (p.Lys114Glu)
c.433A>G (p.Lys145Glu)
c.343A>G (p.Lys115Glu)
c.388A>G (p.Lys130Glu)
 gnomAD v4
13g.101726690T>GCA388711153FGF14c.544A>C (p.Lys182Gln)
c.427A>C (p.Lys143Gln)
c.*133A>C (n.*133A>C)
c.*348A>C (n.*348A>C)
c.*443A>C (n.*443A>C)
c.277A>C (p.Lys93Gln)
c.529A>C (p.Lys177Gln)
c.349A>C (p.Lys117Gln)
c.340A>C (p.Lys114Gln)
c.433A>C (p.Lys145Gln)
c.343A>C (p.Lys115Gln)
c.388A>C (p.Lys130Gln)
 COSMIC COSMIC
13g.101726690T=CA2114682788FGF14c.544A= (p.Lys182=)
c.427A= (p.Lys143=)
c.*133A= (n.*133A=)
c.*348A= (n.*348A=)
c.*443A= (n.*443A=)
c.277A= (p.Lys93=)
c.529A= (p.Lys177=)
c.349A= (p.Lys117=)
c.340A= (p.Lys114=)
c.433A= (p.Lys145=)
c.343A= (p.Lys115=)
c.388A= (p.Lys130=)
13g.101726691A>CCA388711155FGF14c.543T>G (p.Asn181Lys)
c.426T>G (p.Asn142Lys)
c.*132T>G (n.*132T>G)
c.*347T>G (n.*347T>G)
c.*442T>G (n.*442T>G)
c.276T>G (p.Asn92Lys)
c.528T>G (p.Asn176Lys)
c.348T>G (p.Asn116Lys)
c.339T>G (p.Asn113Lys)
c.432T>G (p.Asn144Lys)
c.342T>G (p.Asn114Lys)
c.387T>G (p.Asn129Lys)
13g.101726691A>GCA484767582FGF14c.543T>C (p.Asn181=)
c.426T>C (p.Asn142=)
c.*132T>C (n.*132T>C)
c.*347T>C (n.*347T>C)
c.*442T>C (n.*442T>C)
c.276T>C (p.Asn92=)
c.528T>C (p.Asn176=)
c.348T>C (p.Asn116=)
c.339T>C (p.Asn113=)
c.432T>C (p.Asn144=)
c.342T>C (p.Asn114=)
c.387T>C (p.Asn129=)
13g.101726691A>TCA388711154FGF14c.543T>A (p.Asn181Lys)
c.426T>A (p.Asn142Lys)
c.*132T>A (n.*132T>A)
c.*347T>A (n.*347T>A)
c.*442T>A (n.*442T>A)
c.276T>A (p.Asn92Lys)
c.528T>A (p.Asn176Lys)
c.348T>A (p.Asn116Lys)
c.339T>A (p.Asn113Lys)
c.432T>A (p.Asn144Lys)
c.342T>A (p.Asn114Lys)
c.387T>A (p.Asn129Lys)
13g.101726692T>ACA388711156FGF14c.542A>T (p.Asn181Ile)
c.425A>T (p.Asn142Ile)
c.*131A>T (n.*131A>T)
c.*346A>T (n.*346A>T)
c.*441A>T (n.*441A>T)
c.275A>T (p.Asn92Ile)
c.527A>T (p.Asn176Ile)
c.347A>T (p.Asn116Ile)
c.338A>T (p.Asn113Ile)
c.431A>T (p.Asn144Ile)
c.341A>T (p.Asn114Ile)
c.386A>T (p.Asn129Ile)
13g.101726692T>CCA388711158FGF14c.542A>G (p.Asn181Ser)
c.425A>G (p.Asn142Ser)
c.*131A>G (n.*131A>G)
c.*346A>G (n.*346A>G)
c.*441A>G (n.*441A>G)
c.275A>G (p.Asn92Ser)
c.527A>G (p.Asn176Ser)
c.347A>G (p.Asn116Ser)
c.338A>G (p.Asn113Ser)
c.431A>G (p.Asn144Ser)
c.341A>G (p.Asn114Ser)
c.386A>G (p.Asn129Ser)
13g.101726692T>GCA388711157FGF14c.542A>C (p.Asn181Thr)
c.425A>C (p.Asn142Thr)
c.*131A>C (n.*131A>C)
c.*346A>C (n.*346A>C)
c.*441A>C (n.*441A>C)
c.275A>C (p.Asn92Thr)
c.527A>C (p.Asn176Thr)
c.347A>C (p.Asn116Thr)
c.338A>C (p.Asn113Thr)
c.431A>C (p.Asn144Thr)
c.341A>C (p.Asn114Thr)
c.386A>C (p.Asn129Thr)
 dbSNP
13g.101726692T=CA2114682793FGF14c.542A= (p.Asn181=)
c.425A= (p.Asn142=)
c.*131A= (n.*131A=)
c.*346A= (n.*346A=)
c.*441A= (n.*441A=)
c.275A= (p.Asn92=)
c.527A= (p.Asn176=)
c.347A= (p.Asn116=)
c.338A= (p.Asn113=)
c.431A= (p.Asn144=)
c.341A= (p.Asn114=)
c.386A= (p.Asn129=)
13g.101726693T>ACA388711159FGF14c.541A>T (p.Asn181Tyr)
c.424A>T (p.Asn142Tyr)
c.*130A>T (n.*130A>T)
c.*345A>T (n.*345A>T)
c.*440A>T (n.*440A>T)
c.274A>T (p.Asn92Tyr)
c.526A>T (p.Asn176Tyr)
c.346A>T (p.Asn116Tyr)
c.337A>T (p.Asn113Tyr)
c.430A>T (p.Asn144Tyr)
c.340A>T (p.Asn114Tyr)
c.385A>T (p.Asn129Tyr)
13g.101726693T>CCA388711160FGF14c.541A>G (p.Asn181Asp)
c.424A>G (p.Asn142Asp)
c.*130A>G (n.*130A>G)
c.*345A>G (n.*345A>G)
c.*440A>G (n.*440A>G)
c.274A>G (p.Asn92Asp)
c.526A>G (p.Asn176Asp)
c.346A>G (p.Asn116Asp)
c.337A>G (p.Asn113Asp)
c.430A>G (p.Asn144Asp)
c.340A>G (p.Asn114Asp)
c.385A>G (p.Asn129Asp)
 gnomAD v4
13g.101726693T>GCA388711161FGF14c.541A>C (p.Asn181His)
c.424A>C (p.Asn142His)
c.*130A>C (n.*130A>C)
c.*345A>C (n.*345A>C)
c.*440A>C (n.*440A>C)
c.274A>C (p.Asn92His)
c.526A>C (p.Asn176His)
c.346A>C (p.Asn116His)
c.337A>C (p.Asn113His)
c.430A>C (p.Asn144His)
c.340A>C (p.Asn114His)
c.385A>C (p.Asn129His)
13g.101726694T>ACA388711162FGF14c.540A>T (p.Leu180Phe)
c.423A>T (p.Leu141Phe)
c.*129A>T (n.*129A>T)
c.*344A>T (n.*344A>T)
c.*439A>T (n.*439A>T)
c.273A>T (p.Leu91Phe)
c.525A>T (p.Leu175Phe)
c.345A>T (p.Leu115Phe)
c.336A>T (p.Leu112Phe)
c.429A>T (p.Leu143Phe)
c.339A>T (p.Leu113Phe)
c.384A>T (p.Leu128Phe)
13g.101726694T>CCA484767583FGF14c.540A>G (p.Leu180=)
c.423A>G (p.Leu141=)
c.*129A>G (n.*129A>G)
c.*344A>G (n.*344A>G)
c.*439A>G (n.*439A>G)
c.273A>G (p.Leu91=)
c.525A>G (p.Leu175=)
c.345A>G (p.Leu115=)
c.336A>G (p.Leu112=)
c.429A>G (p.Leu143=)
c.339A>G (p.Leu113=)
c.384A>G (p.Leu128=)
 gnomAD v4 COSMIC COSMIC
13g.101726694T>GCA388711163FGF14c.540A>C (p.Leu180Phe)
c.423A>C (p.Leu141Phe)
c.*129A>C (n.*129A>C)
c.*344A>C (n.*344A>C)
c.*439A>C (n.*439A>C)
c.273A>C (p.Leu91Phe)
c.525A>C (p.Leu175Phe)
c.345A>C (p.Leu115Phe)
c.336A>C (p.Leu112Phe)
c.429A>C (p.Leu143Phe)
c.339A>C (p.Leu113Phe)
c.384A>C (p.Leu128Phe)
13g.101726695A>CCA388711164FGF14c.539T>G (p.Leu180Ter)
c.422T>G (p.Leu141Ter)
c.*128T>G (n.*128T>G)
c.*343T>G (n.*343T>G)
c.*438T>G (n.*438T>G)
c.272T>G (p.Leu91Ter)
c.524T>G (p.Leu175Ter)
c.344T>G (p.Leu115Ter)
c.335T>G (p.Leu112Ter)
c.428T>G (p.Leu143Ter)
c.338T>G (p.Leu113Ter)
c.383T>G (p.Leu128Ter)
13g.101726695A>GCA388711165FGF14c.539T>C (p.Leu180Ser)
c.422T>C (p.Leu141Ser)
c.*128T>C (n.*128T>C)
c.*343T>C (n.*343T>C)
c.*438T>C (n.*438T>C)
c.272T>C (p.Leu91Ser)
c.524T>C (p.Leu175Ser)
c.344T>C (p.Leu115Ser)
c.335T>C (p.Leu112Ser)
c.428T>C (p.Leu143Ser)
c.338T>C (p.Leu113Ser)
c.383T>C (p.Leu128Ser)
13g.101726695A>TCA388711166FGF14c.539T>A (p.Leu180Ter)
c.422T>A (p.Leu141Ter)
c.*128T>A (n.*128T>A)
c.*343T>A (n.*343T>A)
c.*438T>A (n.*438T>A)
c.272T>A (p.Leu91Ter)
c.524T>A (p.Leu175Ter)
c.344T>A (p.Leu115Ter)
c.335T>A (p.Leu112Ter)
c.428T>A (p.Leu143Ter)
c.338T>A (p.Leu113Ter)
c.383T>A (p.Leu128Ter)
13g.101726696A>CCA388711167FGF14c.538T>G (p.Leu180Val)
c.421T>G (p.Leu141Val)
c.*127T>G (n.*127T>G)
c.*342T>G (n.*342T>G)
c.*437T>G (n.*437T>G)
c.271T>G (p.Leu91Val)
c.523T>G (p.Leu175Val)
c.343T>G (p.Leu115Val)
c.334T>G (p.Leu112Val)
c.427T>G (p.Leu143Val)
c.337T>G (p.Leu113Val)
c.382T>G (p.Leu128Val)
13g.101726696A>GCA484767584FGF14c.538T>C (p.Leu180=)
c.421T>C (p.Leu141=)
c.*127T>C (n.*127T>C)
c.*342T>C (n.*342T>C)
c.*437T>C (n.*437T>C)
c.271T>C (p.Leu91=)
c.523T>C (p.Leu175=)
c.343T>C (p.Leu115=)
c.334T>C (p.Leu112=)
c.427T>C (p.Leu143=)
c.337T>C (p.Leu113=)
c.382T>C (p.Leu128=)
 COSMIC
13g.101726696A>TCA388711168FGF14c.538T>A (p.Leu180Ile)
c.421T>A (p.Leu141Ile)
c.*127T>A (n.*127T>A)
c.*342T>A (n.*342T>A)
c.*437T>A (n.*437T>A)
c.271T>A (p.Leu91Ile)
c.523T>A (p.Leu175Ile)
c.343T>A (p.Leu115Ile)
c.334T>A (p.Leu112Ile)
c.427T>A (p.Leu143Ile)
c.337T>A (p.Leu113Ile)
c.382T>A (p.Leu128Ile)
13g.101726697T>ACA484767585FGF14c.537A>T (p.Gly179=)
c.420A>T (p.Gly140=)
c.*126A>T (n.*126A>T)
c.*341A>T (n.*341A>T)
c.*436A>T (n.*436A>T)
c.270A>T (p.Gly90=)
c.522A>T (p.Gly174=)
c.342A>T (p.Gly114=)
c.333A>T (p.Gly111=)
c.426A>T (p.Gly142=)
c.336A>T (p.Gly112=)
c.381A>T (p.Gly127=)
13g.101726697T>CCA256120579FGF14c.537A>G (p.Gly179=)
c.420A>G (p.Gly140=)
c.*126A>G (n.*126A>G)
c.*341A>G (n.*341A>G)
c.*436A>G (n.*436A>G)
c.270A>G (p.Gly90=)
c.522A>G (p.Gly174=)
c.342A>G (p.Gly114=)
c.333A>G (p.Gly111=)
c.426A>G (p.Gly142=)
c.336A>G (p.Gly112=)
c.381A>G (p.Gly127=)
 dbSNP gnomAD v4
13g.101726697T>GCA484767586FGF14c.537A>C (p.Gly179=)
c.420A>C (p.Gly140=)
c.*126A>C (n.*126A>C)
c.*341A>C (n.*341A>C)
c.*436A>C (n.*436A>C)
c.270A>C (p.Gly90=)
c.522A>C (p.Gly174=)
c.342A>C (p.Gly114=)
c.333A>C (p.Gly111=)
c.426A>C (p.Gly142=)
c.336A>C (p.Gly112=)
c.381A>C (p.Gly127=)
13g.101726697T=CA2114682795FGF14c.537A= (p.Gly179=)
c.420A= (p.Gly140=)
c.*126A= (n.*126A=)
c.*341A= (n.*341A=)
c.*436A= (n.*436A=)
c.270A= (p.Gly90=)
c.522A= (p.Gly174=)
c.342A= (p.Gly114=)
c.333A= (p.Gly111=)
c.426A= (p.Gly142=)
c.336A= (p.Gly112=)
c.381A= (p.Gly127=)
13g.101726698C>ACA388711169FGF14c.536G>T (p.Gly179Val)
c.419G>T (p.Gly140Val)
c.*125G>T (n.*125G>T)
c.*340G>T (n.*340G>T)
c.*435G>T (n.*435G>T)
c.269G>T (p.Gly90Val)
c.521G>T (p.Gly174Val)
c.341G>T (p.Gly114Val)
c.332G>T (p.Gly111Val)
c.425G>T (p.Gly142Val)
c.335G>T (p.Gly112Val)
c.380G>T (p.Gly127Val)
13g.101726698C=CA2114682798FGF14c.536G= (p.Gly179=)
c.419G= (p.Gly140=)
c.*125G= (n.*125G=)
c.*340G= (n.*340G=)
c.*435G= (n.*435G=)
c.269G= (p.Gly90=)
c.521G= (p.Gly174=)
c.341G= (p.Gly114=)
c.332G= (p.Gly111=)
c.425G= (p.Gly142=)
c.335G= (p.Gly112=)
c.380G= (p.Gly127=)
13g.101726698C>GCA256120580FGF14c.536G>C (p.Gly179Ala)
c.419G>C (p.Gly140Ala)
c.*125G>C (n.*125G>C)
c.*340G>C (n.*340G>C)
c.*435G>C (n.*435G>C)
c.269G>C (p.Gly90Ala)
c.521G>C (p.Gly174Ala)
c.341G>C (p.Gly114Ala)
c.332G>C (p.Gly111Ala)
c.425G>C (p.Gly142Ala)
c.335G>C (p.Gly112Ala)
c.380G>C (p.Gly127Ala)
 dbSNP
13g.101726698C>TCA388711170FGF14c.536G>A (p.Gly179Glu)
c.419G>A (p.Gly140Glu)
c.*125G>A (n.*125G>A)
c.*340G>A (n.*340G>A)
c.*435G>A (n.*435G>A)
c.269G>A (p.Gly90Glu)
c.521G>A (p.Gly174Glu)
c.341G>A (p.Gly114Glu)
c.332G>A (p.Gly111Glu)
c.425G>A (p.Gly142Glu)
c.335G>A (p.Gly112Glu)
c.380G>A (p.Gly127Glu)
13g.101726699C>ACA388711171FGF14c.535G>T (p.Gly179Ter)
c.418G>T (p.Gly140Ter)
c.*124G>T (n.*124G>T)
c.*339G>T (n.*339G>T)
c.*434G>T (n.*434G>T)
c.268G>T (p.Gly90Ter)
c.520G>T (p.Gly174Ter)
c.340G>T (p.Gly114Ter)
c.331G>T (p.Gly111Ter)
c.424G>T (p.Gly142Ter)
c.334G>T (p.Gly112Ter)
c.379G>T (p.Gly127Ter)
13g.101726699C=CA2114682800FGF14c.535G= (p.Gly179=)
c.418G= (p.Gly140=)
c.*124G= (n.*124G=)
c.*339G= (n.*339G=)
c.*434G= (n.*434G=)
c.268G= (p.Gly90=)
c.520G= (p.Gly174=)
c.340G= (p.Gly114=)
c.331G= (p.Gly111=)
c.424G= (p.Gly142=)
c.334G= (p.Gly112=)
c.379G= (p.Gly127=)
13g.101726699C>GCA388711173FGF14c.535G>C (p.Gly179Arg)
c.418G>C (p.Gly140Arg)
c.*124G>C (n.*124G>C)
c.*339G>C (n.*339G>C)
c.*434G>C (n.*434G>C)
c.268G>C (p.Gly90Arg)
c.520G>C (p.Gly174Arg)
c.340G>C (p.Gly114Arg)
c.331G>C (p.Gly111Arg)
c.424G>C (p.Gly142Arg)
c.334G>C (p.Gly112Arg)
c.379G>C (p.Gly127Arg)
13g.101726699C>TCA388711172FGF14c.535G>A (p.Gly179Arg)
c.418G>A (p.Gly140Arg)
c.*124G>A (n.*124G>A)
c.*339G>A (n.*339G>A)
c.*434G>A (n.*434G>A)
c.268G>A (p.Gly90Arg)
c.520G>A (p.Gly174Arg)
c.340G>A (p.Gly114Arg)
c.331G>A (p.Gly111Arg)
c.424G>A (p.Gly142Arg)
c.334G>A (p.Gly112Arg)
c.379G>A (p.Gly127Arg)
 ClinVar dbSNP
13g.101726700C>ACA388711174FGF14c.534G>T (p.Leu178Phe)
c.417G>T (p.Leu139Phe)
c.*123G>T (n.*123G>T)
c.*338G>T (n.*338G>T)
c.*433G>T (n.*433G>T)
c.267G>T (p.Leu89Phe)
c.519G>T (p.Leu173Phe)
c.339G>T (p.Leu113Phe)
c.330G>T (p.Leu110Phe)
c.423G>T (p.Leu141Phe)
c.333G>T (p.Leu111Phe)
c.378G>T (p.Leu126Phe)
13g.101726700C>GCA388711175FGF14c.534G>C (p.Leu178Phe)
c.417G>C (p.Leu139Phe)
c.*123G>C (n.*123G>C)
c.*338G>C (n.*338G>C)
c.*433G>C (n.*433G>C)
c.267G>C (p.Leu89Phe)
c.519G>C (p.Leu173Phe)
c.339G>C (p.Leu113Phe)
c.330G>C (p.Leu110Phe)
c.423G>C (p.Leu141Phe)
c.333G>C (p.Leu111Phe)
c.378G>C (p.Leu126Phe)
13g.101726700C>TCA484767587FGF14c.534G>A (p.Leu178=)
c.417G>A (p.Leu139=)
c.*123G>A (n.*123G>A)
c.*338G>A (n.*338G>A)
c.*433G>A (n.*433G>A)
c.267G>A (p.Leu89=)
c.519G>A (p.Leu173=)
c.339G>A (p.Leu113=)
c.330G>A (p.Leu110=)
c.423G>A (p.Leu141=)
c.333G>A (p.Leu111=)
c.378G>A (p.Leu126=)
13g.101726701A>CCA388711176FGF14c.533T>G (p.Leu178Trp)
c.416T>G (p.Leu139Trp)
c.*122T>G (n.*122T>G)
c.*337T>G (n.*337T>G)
c.*432T>G (n.*432T>G)
c.266T>G (p.Leu89Trp)
c.518T>G (p.Leu173Trp)
c.338T>G (p.Leu113Trp)
c.329T>G (p.Leu110Trp)
c.422T>G (p.Leu141Trp)
c.332T>G (p.Leu111Trp)
c.377T>G (p.Leu126Trp)
 dbSNP
13g.101726701A>GCA388711177FGF14c.533T>C (p.Leu178Ser)
c.416T>C (p.Leu139Ser)
c.*122T>C (n.*122T>C)
c.*337T>C (n.*337T>C)
c.*432T>C (n.*432T>C)
c.266T>C (p.Leu89Ser)
c.518T>C (p.Leu173Ser)
c.338T>C (p.Leu113Ser)
c.329T>C (p.Leu110Ser)
c.422T>C (p.Leu141Ser)
c.332T>C (p.Leu111Ser)
c.377T>C (p.Leu126Ser)
13g.101726701A>TCA388711178FGF14c.533T>A (p.Leu178Ter)
c.416T>A (p.Leu139Ter)
c.*122T>A (n.*122T>A)
c.*337T>A (n.*337T>A)
c.*432T>A (n.*432T>A)
c.266T>A (p.Leu89Ter)
c.518T>A (p.Leu173Ter)
c.338T>A (p.Leu113Ter)
c.329T>A (p.Leu110Ter)
c.422T>A (p.Leu141Ter)
c.332T>A (p.Leu111Ter)
c.377T>A (p.Leu126Ter)
13g.101726705delCA2575449114FGF14c.533del (p.Leu178TrpfsTer3)
c.416del (p.Leu139TrpfsTer3)
c.*122del (n.*122del)
c.*337del (n.*337del)
c.*432del (n.*432del)
c.266del (p.Leu89TrpfsTer3)
c.518del (p.Leu173TrpfsTer3)
c.338del (p.Leu113TrpfsTer3)
c.329del (p.Leu110TrpfsTer3)
c.422del (p.Leu141TrpfsTer3)
c.332del (p.Leu111TrpfsTer3)
c.377del (p.Leu126TrpfsTer3)
 dbSNP
13g.101726702A>CCA388711179FGF14c.532T>G (p.Leu178Val)
c.415T>G (p.Leu139Val)
c.*121T>G (n.*121T>G)
c.*336T>G (n.*336T>G)
c.*431T>G (n.*431T>G)
c.265T>G (p.Leu89Val)
c.517T>G (p.Leu173Val)
c.337T>G (p.Leu113Val)
c.328T>G (p.Leu110Val)
c.421T>G (p.Leu141Val)
c.331T>G (p.Leu111Val)
c.376T>G (p.Leu126Val)
13g.101726702A>GCA484767588FGF14c.532T>C (p.Leu178=)
c.415T>C (p.Leu139=)
c.*121T>C (n.*121T>C)
c.*336T>C (n.*336T>C)
c.*431T>C (n.*431T>C)
c.265T>C (p.Leu89=)
c.517T>C (p.Leu173=)
c.337T>C (p.Leu113=)
c.328T>C (p.Leu110=)
c.421T>C (p.Leu141=)
c.331T>C (p.Leu111=)
c.376T>C (p.Leu126=)
13g.101726702A>TCA388711180FGF14c.532T>A (p.Leu178Met)
c.415T>A (p.Leu139Met)
c.*121T>A (n.*121T>A)
c.*336T>A (n.*336T>A)
c.*431T>A (n.*431T>A)
c.265T>A (p.Leu89Met)
c.517T>A (p.Leu173Met)
c.337T>A (p.Leu113Met)
c.328T>A (p.Leu110Met)
c.421T>A (p.Leu141Met)
c.331T>A (p.Leu111Met)
c.376T>A (p.Leu126Met)
13g.101726702_101726703insGCCCA2729145054FGF14c.531_532insGGC (p.Phe177_Leu178insGly)
c.414_415insGGC (p.Phe138_Leu139insGly)
c.*120_*121insGGC (n.*120_*121insGGC)
c.*335_*336insGGC (n.*335_*336insGGC)
c.*430_*431insGGC (n.*430_*431insGGC)
c.264_265insGGC (p.Phe88_Leu89insGly)
c.516_517insGGC (p.Phe172_Leu173insGly)
c.336_337insGGC (p.Phe112_Leu113insGly)
c.327_328insGGC (p.Phe109_Leu110insGly)
c.420_421insGGC (p.Phe140_Leu141insGly)
c.330_331insGGC (p.Phe110_Leu111insGly)
c.375_376insGGC (p.Phe125_Leu126insGly)
 dbSNP
13g.101726703A>CCA388711181FGF14c.531T>G (p.Phe177Leu)
c.414T>G (p.Phe138Leu)
c.*120T>G (n.*120T>G)
c.*335T>G (n.*335T>G)
c.*430T>G (n.*430T>G)
c.264T>G (p.Phe88Leu)
c.516T>G (p.Phe172Leu)
c.336T>G (p.Phe112Leu)
c.327T>G (p.Phe109Leu)
c.420T>G (p.Phe140Leu)
c.330T>G (p.Phe110Leu)
c.375T>G (p.Phe125Leu)
13g.101726703A>GCA484767589FGF14c.531T>C (p.Phe177=)
c.414T>C (p.Phe138=)
c.*120T>C (n.*120T>C)
c.*335T>C (n.*335T>C)
c.*430T>C (n.*430T>C)
c.264T>C (p.Phe88=)
c.516T>C (p.Phe172=)
c.336T>C (p.Phe112=)
c.327T>C (p.Phe109=)
c.420T>C (p.Phe140=)
c.330T>C (p.Phe110=)
c.375T>C (p.Phe125=)
13g.101726703A>TCA388711182FGF14c.531T>A (p.Phe177Leu)
c.414T>A (p.Phe138Leu)
c.*120T>A (n.*120T>A)
c.*335T>A (n.*335T>A)
c.*430T>A (n.*430T>A)
c.264T>A (p.Phe88Leu)
c.516T>A (p.Phe172Leu)
c.336T>A (p.Phe112Leu)
c.327T>A (p.Phe109Leu)
c.420T>A (p.Phe140Leu)
c.330T>A (p.Phe110Leu)
c.375T>A (p.Phe125Leu)
13g.101726704A>CCA388711185FGF14c.530T>G (p.Phe177Cys)
c.413T>G (p.Phe138Cys)
c.*119T>G (n.*119T>G)
c.*334T>G (n.*334T>G)
c.*429T>G (n.*429T>G)
c.263T>G (p.Phe88Cys)
c.515T>G (p.Phe172Cys)
c.335T>G (p.Phe112Cys)
c.326T>G (p.Phe109Cys)
c.419T>G (p.Phe140Cys)
c.329T>G (p.Phe110Cys)
c.374T>G (p.Phe125Cys)
 COSMIC COSMIC
13g.101726704A>GCA388711184FGF14c.530T>C (p.Phe177Ser)
c.413T>C (p.Phe138Ser)
c.*119T>C (n.*119T>C)
c.*334T>C (n.*334T>C)
c.*429T>C (n.*429T>C)
c.263T>C (p.Phe88Ser)
c.515T>C (p.Phe172Ser)
c.335T>C (p.Phe112Ser)
c.326T>C (p.Phe109Ser)
c.419T>C (p.Phe140Ser)
c.329T>C (p.Phe110Ser)
c.374T>C (p.Phe125Ser)
13g.101726704A>TCA388711183FGF14c.530T>A (p.Phe177Tyr)
c.413T>A (p.Phe138Tyr)
c.*119T>A (n.*119T>A)
c.*334T>A (n.*334T>A)
c.*429T>A (n.*429T>A)
c.263T>A (p.Phe88Tyr)
c.515T>A (p.Phe172Tyr)
c.335T>A (p.Phe112Tyr)
c.326T>A (p.Phe109Tyr)
c.419T>A (p.Phe140Tyr)
c.329T>A (p.Phe110Tyr)
c.374T>A (p.Phe125Tyr)
13g.101726705A>CCA388711186FGF14c.529T>G (p.Phe177Val)
c.412T>G (p.Phe138Val)
c.*118T>G (n.*118T>G)
c.*333T>G (n.*333T>G)
c.*428T>G (n.*428T>G)
c.262T>G (p.Phe88Val)
c.514T>G (p.Phe172Val)
c.334T>G (p.Phe112Val)
c.325T>G (p.Phe109Val)
c.418T>G (p.Phe140Val)
c.328T>G (p.Phe110Val)
c.373T>G (p.Phe125Val)
 COSMIC COSMIC
13g.101726705A>GCA388711187FGF14c.529T>C (p.Phe177Leu)
c.412T>C (p.Phe138Leu)
c.*118T>C (n.*118T>C)
c.*333T>C (n.*333T>C)
c.*428T>C (n.*428T>C)
c.262T>C (p.Phe88Leu)
c.514T>C (p.Phe172Leu)
c.334T>C (p.Phe112Leu)
c.325T>C (p.Phe109Leu)
c.418T>C (p.Phe140Leu)
c.328T>C (p.Phe110Leu)
c.373T>C (p.Phe125Leu)
 dbSNP COSMIC COSMIC
13g.101726705A>TCA388711188FGF14c.529T>A (p.Phe177Ile)
c.412T>A (p.Phe138Ile)
c.*118T>A (n.*118T>A)
c.*333T>A (n.*333T>A)
c.*428T>A (n.*428T>A)
c.262T>A (p.Phe88Ile)
c.514T>A (p.Phe172Ile)
c.334T>A (p.Phe112Ile)
c.325T>A (p.Phe109Ile)
c.418T>A (p.Phe140Ile)
c.328T>A (p.Phe110Ile)
c.373T>A (p.Phe125Ile)
13g.101726706C>ACA388711189FGF14c.528G>T (p.Trp176Cys)
c.411G>T (p.Trp137Cys)
c.*117G>T (n.*117G>T)
c.*332G>T (n.*332G>T)
c.*427G>T (n.*427G>T)
c.261G>T (p.Trp87Cys)
c.513G>T (p.Trp171Cys)
c.333G>T (p.Trp111Cys)
c.324G>T (p.Trp108Cys)
c.417G>T (p.Trp139Cys)
c.327G>T (p.Trp109Cys)
c.372G>T (p.Trp124Cys)
13g.101726706C>GCA388711190FGF14c.528G>C (p.Trp176Cys)
c.411G>C (p.Trp137Cys)
c.*117G>C (n.*117G>C)
c.*332G>C (n.*332G>C)
c.*427G>C (n.*427G>C)
c.261G>C (p.Trp87Cys)
c.513G>C (p.Trp171Cys)
c.333G>C (p.Trp111Cys)
c.324G>C (p.Trp108Cys)
c.417G>C (p.Trp139Cys)
c.327G>C (p.Trp109Cys)
c.372G>C (p.Trp124Cys)
13g.101726706C>TCA388711191FGF14c.528G>A (p.Trp176Ter)
c.411G>A (p.Trp137Ter)
c.*117G>A (n.*117G>A)
c.*332G>A (n.*332G>A)
c.*427G>A (n.*427G>A)
c.261G>A (p.Trp87Ter)
c.513G>A (p.Trp171Ter)
c.333G>A (p.Trp111Ter)
c.324G>A (p.Trp108Ter)
c.417G>A (p.Trp139Ter)
c.327G>A (p.Trp109Ter)
c.372G>A (p.Trp124Ter)
13g.101726707C>ACA388711192FGF14c.527G>T (p.Trp176Leu)
c.410G>T (p.Trp137Leu)
c.*116G>T (n.*116G>T)
c.*331G>T (n.*331G>T)
c.*426G>T (n.*426G>T)
c.260G>T (p.Trp87Leu)
c.512G>T (p.Trp171Leu)
c.332G>T (p.Trp111Leu)
c.323G>T (p.Trp108Leu)
c.416G>T (p.Trp139Leu)
c.326G>T (p.Trp109Leu)
c.371G>T (p.Trp124Leu)
13g.101726707C>GCA388711193FGF14c.527G>C (p.Trp176Ser)
c.410G>C (p.Trp137Ser)
c.*116G>C (n.*116G>C)
c.*331G>C (n.*331G>C)
c.*426G>C (n.*426G>C)
c.260G>C (p.Trp87Ser)
c.512G>C (p.Trp171Ser)
c.332G>C (p.Trp111Ser)
c.323G>C (p.Trp108Ser)
c.416G>C (p.Trp139Ser)
c.326G>C (p.Trp109Ser)
c.371G>C (p.Trp124Ser)
13g.101726707C>TCA388711194FGF14c.527G>A (p.Trp176Ter)
c.410G>A (p.Trp137Ter)
c.*116G>A (n.*116G>A)
c.*331G>A (n.*331G>A)
c.*426G>A (n.*426G>A)
c.260G>A (p.Trp87Ter)
c.512G>A (p.Trp171Ter)
c.332G>A (p.Trp111Ter)
c.323G>A (p.Trp108Ter)
c.416G>A (p.Trp139Ter)
c.326G>A (p.Trp109Ter)
c.371G>A (p.Trp124Ter)
 ClinVar
13g.101726708A>CCA388711195FGF14c.526T>G (p.Trp176Gly)
c.409T>G (p.Trp137Gly)
c.*115T>G (n.*115T>G)
c.*330T>G (n.*330T>G)
c.*425T>G (n.*425T>G)
c.259T>G (p.Trp87Gly)
c.511T>G (p.Trp171Gly)
c.331T>G (p.Trp111Gly)
c.322T>G (p.Trp108Gly)
c.415T>G (p.Trp139Gly)
c.325T>G (p.Trp109Gly)
c.370T>G (p.Trp124Gly)
13g.101726708A>GCA388711196FGF14c.526T>C (p.Trp176Arg)
c.409T>C (p.Trp137Arg)
c.*115T>C (n.*115T>C)
c.*330T>C (n.*330T>C)
c.*425T>C (n.*425T>C)
c.259T>C (p.Trp87Arg)
c.511T>C (p.Trp171Arg)
c.331T>C (p.Trp111Arg)
c.322T>C (p.Trp108Arg)
c.415T>C (p.Trp139Arg)
c.325T>C (p.Trp109Arg)
c.370T>C (p.Trp124Arg)
13g.101726708A>TCA388711197FGF14c.526T>A (p.Trp176Arg)
c.409T>A (p.Trp137Arg)
c.*115T>A (n.*115T>A)
c.*330T>A (n.*330T>A)
c.*425T>A (n.*425T>A)
c.259T>A (p.Trp87Arg)
c.511T>A (p.Trp171Arg)
c.331T>A (p.Trp111Arg)
c.322T>A (p.Trp108Arg)
c.415T>A (p.Trp139Arg)
c.325T>A (p.Trp109Arg)
c.370T>A (p.Trp124Arg)
13g.101726709G>ACA484767592FGF14c.525C>T (p.Ala175=)
c.408C>T (p.Ala136=)
c.*114C>T (n.*114C>T)
c.*329C>T (n.*329C>T)
c.*424C>T (n.*424C>T)
c.258C>T (p.Ala86=)
c.510C>T (p.Ala170=)
c.330C>T (p.Ala110=)
c.321C>T (p.Ala107=)
c.414C>T (p.Ala138=)
c.324C>T (p.Ala108=)
c.369C>T (p.Ala123=)
 gnomAD v4 COSMIC COSMIC
13g.101726709G>CCA484767591FGF14c.525C>G (p.Ala175=)
c.408C>G (p.Ala136=)
c.*114C>G (n.*114C>G)
c.*329C>G (n.*329C>G)
c.*424C>G (n.*424C>G)
c.258C>G (p.Ala86=)
c.510C>G (p.Ala170=)
c.330C>G (p.Ala110=)
c.321C>G (p.Ala107=)
c.414C>G (p.Ala138=)
c.324C>G (p.Ala108=)
c.369C>G (p.Ala123=)
13g.101726709G>TCA484767590FGF14c.525C>A (p.Ala175=)
c.408C>A (p.Ala136=)
c.*114C>A (n.*114C>A)
c.*329C>A (n.*329C>A)
c.*424C>A (n.*424C>A)
c.258C>A (p.Ala86=)
c.510C>A (p.Ala170=)
c.330C>A (p.Ala110=)
c.321C>A (p.Ala107=)
c.414C>A (p.Ala138=)
c.324C>A (p.Ala108=)
c.369C>A (p.Ala123=)
13g.101726710G>ACA388711200FGF14c.524C>T (p.Ala175Val)
c.407C>T (p.Ala136Val)
c.*113C>T (n.*113C>T)
c.*328C>T (n.*328C>T)
c.*423C>T (n.*423C>T)
c.257C>T (p.Ala86Val)
c.509C>T (p.Ala170Val)
c.329C>T (p.Ala110Val)
c.320C>T (p.Ala107Val)
c.413C>T (p.Ala138Val)
c.323C>T (p.Ala108Val)
c.368C>T (p.Ala123Val)
13g.101726710G>CCA388711199FGF14c.524C>G (p.Ala175Gly)
c.407C>G (p.Ala136Gly)
c.*113C>G (n.*113C>G)
c.*328C>G (n.*328C>G)
c.*423C>G (n.*423C>G)
c.257C>G (p.Ala86Gly)
c.509C>G (p.Ala170Gly)
c.329C>G (p.Ala110Gly)
c.320C>G (p.Ala107Gly)
c.413C>G (p.Ala138Gly)
c.323C>G (p.Ala108Gly)
c.368C>G (p.Ala123Gly)
13g.101726710G>TCA388711198FGF14c.524C>A (p.Ala175Asp)
c.407C>A (p.Ala136Asp)
c.*113C>A (n.*113C>A)
c.*328C>A (n.*328C>A)
c.*423C>A (n.*423C>A)
c.257C>A (p.Ala86Asp)
c.509C>A (p.Ala170Asp)
c.329C>A (p.Ala110Asp)
c.320C>A (p.Ala107Asp)
c.413C>A (p.Ala138Asp)
c.323C>A (p.Ala108Asp)
c.368C>A (p.Ala123Asp)
13g.101726711C>ACA388711201FGF14c.523G>T (p.Ala175Ser)
c.406G>T (p.Ala136Ser)
c.*112G>T (n.*112G>T)
c.*327G>T (n.*327G>T)
c.*422G>T (n.*422G>T)
c.256G>T (p.Ala86Ser)
c.508G>T (p.Ala170Ser)
c.328G>T (p.Ala110Ser)
c.319G>T (p.Ala107Ser)
c.412G>T (p.Ala138Ser)
c.322G>T (p.Ala108Ser)
c.367G>T (p.Ala123Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.101726711C=CA2114682804FGF14c.523G= (p.Ala175=)
c.406G= (p.Ala136=)
c.*112G= (n.*112G=)
c.*327G= (n.*327G=)
c.*422G= (n.*422G=)
c.256G= (p.Ala86=)
c.508G= (p.Ala170=)
c.328G= (p.Ala110=)
c.319G= (p.Ala107=)
c.412G= (p.Ala138=)
c.322G= (p.Ala108=)
c.367G= (p.Ala123=)
13g.101726711C>GCA388711202FGF14c.523G>C (p.Ala175Pro)
c.406G>C (p.Ala136Pro)
c.*112G>C (n.*112G>C)
c.*327G>C (n.*327G>C)
c.*422G>C (n.*422G>C)
c.256G>C (p.Ala86Pro)
c.508G>C (p.Ala170Pro)
c.328G>C (p.Ala110Pro)
c.319G>C (p.Ala107Pro)
c.412G>C (p.Ala138Pro)
c.322G>C (p.Ala108Pro)
c.367G>C (p.Ala123Pro)
13g.101726711C>TCA388711203FGF14c.523G>A (p.Ala175Thr)
c.406G>A (p.Ala136Thr)
c.*112G>A (n.*112G>A)
c.*327G>A (n.*327G>A)
c.*422G>A (n.*422G>A)
c.256G>A (p.Ala86Thr)
c.508G>A (p.Ala170Thr)
c.328G>A (p.Ala110Thr)
c.319G>A (p.Ala107Thr)
c.412G>A (p.Ala138Thr)
c.322G>A (p.Ala108Thr)
c.367G>A (p.Ala123Thr)
 gnomAD v4
13g.101726712T>ACA388711204FGF14c.522A>T (p.Arg174Ser)
c.405A>T (p.Arg135Ser)
c.*111A>T (n.*111A>T)
c.*326A>T (n.*326A>T)
c.*421A>T (n.*421A>T)
c.255A>T (p.Arg85Ser)
c.507A>T (p.Arg169Ser)
c.327A>T (p.Arg109Ser)
c.318A>T (p.Arg106Ser)
c.411A>T (p.Arg137Ser)
c.321A>T (p.Arg107Ser)
c.366A>T (p.Arg122Ser)
13g.101726712T>CCA484767593FGF14c.522A>G (p.Arg174=)
c.405A>G (p.Arg135=)
c.*111A>G (n.*111A>G)
c.*326A>G (n.*326A>G)
c.*421A>G (n.*421A>G)
c.255A>G (p.Arg85=)
c.507A>G (p.Arg169=)
c.327A>G (p.Arg109=)
c.318A>G (p.Arg106=)
c.411A>G (p.Arg137=)
c.321A>G (p.Arg107=)
c.366A>G (p.Arg122=)
13g.101726712T>GCA388711205FGF14c.522A>C (p.Arg174Ser)
c.405A>C (p.Arg135Ser)
c.*111A>C (n.*111A>C)
c.*326A>C (n.*326A>C)
c.*421A>C (n.*421A>C)
c.255A>C (p.Arg85Ser)
c.507A>C (p.Arg169Ser)
c.327A>C (p.Arg109Ser)
c.318A>C (p.Arg106Ser)
c.411A>C (p.Arg137Ser)
c.321A>C (p.Arg107Ser)
c.366A>C (p.Arg122Ser)
13g.101726713C>ACA388711206FGF14c.521G>T (p.Arg174Ile)
c.404G>T (p.Arg135Ile)
c.*110G>T (n.*110G>T)
c.*325G>T (n.*325G>T)
c.*420G>T (n.*420G>T)
c.254G>T (p.Arg85Ile)
c.506G>T (p.Arg169Ile)
c.326G>T (p.Arg109Ile)
c.317G>T (p.Arg106Ile)
c.410G>T (p.Arg137Ile)
c.320G>T (p.Arg107Ile)
c.365G>T (p.Arg122Ile)
13g.101726713C>GCA388711207FGF14c.521G>C (p.Arg174Thr)
c.404G>C (p.Arg135Thr)
c.*110G>C (n.*110G>C)
c.*325G>C (n.*325G>C)
c.*420G>C (n.*420G>C)
c.254G>C (p.Arg85Thr)
c.506G>C (p.Arg169Thr)
c.326G>C (p.Arg109Thr)
c.317G>C (p.Arg106Thr)
c.410G>C (p.Arg137Thr)
c.320G>C (p.Arg107Thr)
c.365G>C (p.Arg122Thr)
13g.101726713C>TCA388711208FGF14c.521G>A (p.Arg174Lys)
c.404G>A (p.Arg135Lys)
c.*110G>A (n.*110G>A)
c.*325G>A (n.*325G>A)
c.*420G>A (n.*420G>A)
c.254G>A (p.Arg85Lys)
c.506G>A (p.Arg169Lys)
c.326G>A (p.Arg109Lys)
c.317G>A (p.Arg106Lys)
c.410G>A (p.Arg137Lys)
c.320G>A (p.Arg107Lys)
c.365G>A (p.Arg122Lys)
13g.101726714T>ACA388711209FGF14c.520A>T (p.Arg174Ter)
c.403A>T (p.Arg135Ter)
c.*109A>T (n.*109A>T)
c.*324A>T (n.*324A>T)
c.*419A>T (n.*419A>T)
c.253A>T (p.Arg85Ter)
c.505A>T (p.Arg169Ter)
c.325A>T (p.Arg109Ter)
c.316A>T (p.Arg106Ter)
c.409A>T (p.Arg137Ter)
c.319A>T (p.Arg107Ter)
c.364A>T (p.Arg122Ter)
13g.101726714T>CCA388711210FGF14c.520A>G (p.Arg174Gly)
c.403A>G (p.Arg135Gly)
c.*109A>G (n.*109A>G)
c.*324A>G (n.*324A>G)
c.*419A>G (n.*419A>G)
c.253A>G (p.Arg85Gly)
c.505A>G (p.Arg169Gly)
c.325A>G (p.Arg109Gly)
c.316A>G (p.Arg106Gly)
c.409A>G (p.Arg137Gly)
c.319A>G (p.Arg107Gly)
c.364A>G (p.Arg122Gly)
13g.101726714T>GCA484767594FGF14c.520A>C (p.Arg174=)
c.403A>C (p.Arg135=)
c.*109A>C (n.*109A>C)
c.*324A>C (n.*324A>C)
c.*419A>C (n.*419A>C)
c.253A>C (p.Arg85=)
c.505A>C (p.Arg169=)
c.325A>C (p.Arg109=)
c.316A>C (p.Arg106=)
c.409A>C (p.Arg137=)
c.319A>C (p.Arg107=)
c.364A>C (p.Arg122=)
13g.101726715A>CCA484767595FGF14c.519T>G (p.Gly173=)
c.402T>G (p.Gly134=)
c.*108T>G (n.*108T>G)
c.*323T>G (n.*323T>G)
c.*418T>G (n.*418T>G)
c.252T>G (p.Gly84=)
c.504T>G (p.Gly168=)
c.324T>G (p.Gly108=)
c.315T>G (p.Gly105=)
c.408T>G (p.Gly136=)
c.318T>G (p.Gly106=)
c.363T>G (p.Gly121=)
13g.101726715A>GCA484767597FGF14c.519T>C (p.Gly173=)
c.402T>C (p.Gly134=)
c.*108T>C (n.*108T>C)
c.*323T>C (n.*323T>C)
c.*418T>C (n.*418T>C)
c.252T>C (p.Gly84=)
c.504T>C (p.Gly168=)
c.324T>C (p.Gly108=)
c.315T>C (p.Gly105=)
c.408T>C (p.Gly136=)
c.318T>C (p.Gly106=)
c.363T>C (p.Gly121=)
 gnomAD v4
13g.101726715A>TCA484767596FGF14c.519T>A (p.Gly173=)
c.402T>A (p.Gly134=)
c.*108T>A (n.*108T>A)
c.*323T>A (n.*323T>A)
c.*418T>A (n.*418T>A)
c.252T>A (p.Gly84=)
c.504T>A (p.Gly168=)
c.324T>A (p.Gly108=)
c.315T>A (p.Gly105=)
c.408T>A (p.Gly136=)
c.318T>A (p.Gly106=)
c.363T>A (p.Gly121=)
 COSMIC COSMIC
13g.101726716C>ACA388711211FGF14c.518G>T (p.Gly173Val)
c.401G>T (p.Gly134Val)
c.*107G>T (n.*107G>T)
c.*322G>T (n.*322G>T)
c.*417G>T (n.*417G>T)
c.251G>T (p.Gly84Val)
c.503G>T (p.Gly168Val)
c.323G>T (p.Gly108Val)
c.314G>T (p.Gly105Val)
c.407G>T (p.Gly136Val)
c.317G>T (p.Gly106Val)
c.362G>T (p.Gly121Val)
13g.101726716C>GCA388711212FGF14c.518G>C (p.Gly173Ala)
c.401G>C (p.Gly134Ala)
c.*107G>C (n.*107G>C)
c.*322G>C (n.*322G>C)
c.*417G>C (n.*417G>C)
c.251G>C (p.Gly84Ala)
c.503G>C (p.Gly168Ala)
c.323G>C (p.Gly108Ala)
c.314G>C (p.Gly105Ala)
c.407G>C (p.Gly136Ala)
c.317G>C (p.Gly106Ala)
c.362G>C (p.Gly121Ala)
13g.101726716C>TCA388711213FGF14c.518G>A (p.Gly173Asp)
c.401G>A (p.Gly134Asp)
c.*107G>A (n.*107G>A)
c.*322G>A (n.*322G>A)
c.*417G>A (n.*417G>A)
c.251G>A (p.Gly84Asp)
c.503G>A (p.Gly168Asp)
c.323G>A (p.Gly108Asp)
c.314G>A (p.Gly105Asp)
c.407G>A (p.Gly136Asp)
c.317G>A (p.Gly106Asp)
c.362G>A (p.Gly121Asp)
13g.101726717C>ACA388711215FGF14c.517G>T (p.Gly173Cys)
c.400G>T (p.Gly134Cys)
c.*106G>T (n.*106G>T)
c.*321G>T (n.*321G>T)
c.*416G>T (n.*416G>T)
c.250G>T (p.Gly84Cys)
c.502G>T (p.Gly168Cys)
c.322G>T (p.Gly108Cys)
c.313G>T (p.Gly105Cys)
c.406G>T (p.Gly136Cys)
c.316G>T (p.Gly106Cys)
c.361G>T (p.Gly121Cys)
13g.101726717C=CA2114682807FGF14c.517G= (p.Gly173=)
c.400G= (p.Gly134=)
c.*106G= (n.*106G=)
c.*321G= (n.*321G=)
c.*416G= (n.*416G=)
c.250G= (p.Gly84=)
c.502G= (p.Gly168=)
c.322G= (p.Gly108=)
c.313G= (p.Gly105=)
c.406G= (p.Gly136=)
c.316G= (p.Gly106=)
c.361G= (p.Gly121=)
13g.101726717C>GCA7037148FGF14c.517G>C (p.Gly173Arg)
c.400G>C (p.Gly134Arg)
c.*106G>C (n.*106G>C)
c.*321G>C (n.*321G>C)
c.*416G>C (n.*416G>C)
c.250G>C (p.Gly84Arg)
c.502G>C (p.Gly168Arg)
c.322G>C (p.Gly108Arg)
c.313G>C (p.Gly105Arg)
c.406G>C (p.Gly136Arg)
c.316G>C (p.Gly106Arg)
c.361G>C (p.Gly121Arg)
 dbSNP ExAC gnomAD v2
13g.101726717C>TCA388711214FGF14c.517G>A (p.Gly173Ser)
c.400G>A (p.Gly134Ser)
c.*106G>A (n.*106G>A)
c.*321G>A (n.*321G>A)
c.*416G>A (n.*416G>A)
c.250G>A (p.Gly84Ser)
c.502G>A (p.Gly168Ser)
c.322G>A (p.Gly108Ser)
c.313G>A (p.Gly105Ser)
c.406G>A (p.Gly136Ser)
c.316G>A (p.Gly106Ser)
c.361G>A (p.Gly121Ser)
13g.101726718A>CCA484767600FGF14c.516T>G (p.Ser172=)
c.399T>G (p.Ser133=)
c.*105T>G (n.*105T>G)
c.*320T>G (n.*320T>G)
c.*415T>G (n.*415T>G)
c.249T>G (p.Ser83=)
c.501T>G (p.Ser167=)
c.321T>G (p.Ser107=)
c.312T>G (p.Ser104=)
c.405T>G (p.Ser135=)
c.315T>G (p.Ser105=)
c.360T>G (p.Ser120=)
 gnomAD v4
13g.101726718A>GCA484767599FGF14c.516T>C (p.Ser172=)
c.399T>C (p.Ser133=)
c.*105T>C (n.*105T>C)
c.*320T>C (n.*320T>C)
c.*415T>C (n.*415T>C)
c.249T>C (p.Ser83=)
c.501T>C (p.Ser167=)
c.321T>C (p.Ser107=)
c.312T>C (p.Ser104=)
c.405T>C (p.Ser135=)
c.315T>C (p.Ser105=)
c.360T>C (p.Ser120=)
13g.101726718A>TCA484767598FGF14c.516T>A (p.Ser172=)
c.399T>A (p.Ser133=)
c.*105T>A (n.*105T>A)
c.*320T>A (n.*320T>A)
c.*415T>A (n.*415T>A)
c.249T>A (p.Ser83=)
c.501T>A (p.Ser167=)
c.321T>A (p.Ser107=)
c.312T>A (p.Ser104=)
c.405T>A (p.Ser135=)
c.315T>A (p.Ser105=)
c.360T>A (p.Ser120=)
 gnomAD v4
13g.101726719G>ACA388711217FGF14c.515C>T (p.Ser172Phe)
c.398C>T (p.Ser133Phe)
c.*104C>T (n.*104C>T)
c.*319C>T (n.*319C>T)
c.*414C>T (n.*414C>T)
c.248C>T (p.Ser83Phe)
c.500C>T (p.Ser167Phe)
c.320C>T (p.Ser107Phe)
c.311C>T (p.Ser104Phe)
c.404C>T (p.Ser135Phe)
c.314C>T (p.Ser105Phe)
c.359C>T (p.Ser120Phe)
13g.101726719G>CCA388711216FGF14c.515C>G (p.Ser172Cys)
c.398C>G (p.Ser133Cys)
c.*104C>G (n.*104C>G)
c.*319C>G (n.*319C>G)
c.*414C>G (n.*414C>G)
c.248C>G (p.Ser83Cys)
c.500C>G (p.Ser167Cys)
c.320C>G (p.Ser107Cys)
c.311C>G (p.Ser104Cys)
c.404C>G (p.Ser135Cys)
c.314C>G (p.Ser105Cys)
c.359C>G (p.Ser120Cys)
13g.101726719G>TCA388711218FGF14c.515C>A (p.Ser172Tyr)
c.398C>A (p.Ser133Tyr)
c.*104C>A (n.*104C>A)
c.*319C>A (n.*319C>A)
c.*414C>A (n.*414C>A)
c.248C>A (p.Ser83Tyr)
c.500C>A (p.Ser167Tyr)
c.320C>A (p.Ser107Tyr)
c.311C>A (p.Ser104Tyr)
c.404C>A (p.Ser135Tyr)
c.314C>A (p.Ser105Tyr)
c.359C>A (p.Ser120Tyr)
13g.101726720A>CCA388711219FGF14c.514T>G (p.Ser172Ala)
c.397T>G (p.Ser133Ala)
c.*103T>G (n.*103T>G)
c.*318T>G (n.*318T>G)
c.*413T>G (n.*413T>G)
c.247T>G (p.Ser83Ala)
c.499T>G (p.Ser167Ala)
c.319T>G (p.Ser107Ala)
c.310T>G (p.Ser104Ala)
c.403T>G (p.Ser135Ala)
c.313T>G (p.Ser105Ala)
c.358T>G (p.Ser120Ala)
13g.101726720A>GCA388711220FGF14c.514T>C (p.Ser172Pro)
c.397T>C (p.Ser133Pro)
c.*103T>C (n.*103T>C)
c.*318T>C (n.*318T>C)
c.*413T>C (n.*413T>C)
c.247T>C (p.Ser83Pro)
c.499T>C (p.Ser167Pro)
c.319T>C (p.Ser107Pro)
c.310T>C (p.Ser104Pro)
c.403T>C (p.Ser135Pro)
c.313T>C (p.Ser105Pro)
c.358T>C (p.Ser120Pro)
13g.101726720A>TCA388711221FGF14c.514T>A (p.Ser172Thr)
c.397T>A (p.Ser133Thr)
c.*103T>A (n.*103T>A)
c.*318T>A (n.*318T>A)
c.*413T>A (n.*413T>A)
c.247T>A (p.Ser83Thr)
c.499T>A (p.Ser167Thr)
c.319T>A (p.Ser107Thr)
c.310T>A (p.Ser104Thr)
c.403T>A (p.Ser135Thr)
c.313T>A (p.Ser105Thr)
c.358T>A (p.Ser120Thr)
13g.101726721T>ACA388711222FGF14c.513A>T (p.Glu171Asp)
c.396A>T (p.Glu132Asp)
c.*102A>T (n.*102A>T)
c.*317A>T (n.*317A>T)
c.*412A>T (n.*412A>T)
c.246A>T (p.Glu82Asp)
c.498A>T (p.Glu166Asp)
c.318A>T (p.Glu106Asp)
c.309A>T (p.Glu103Asp)
c.402A>T (p.Glu134Asp)
c.312A>T (p.Glu104Asp)
c.357A>T (p.Glu119Asp)
13g.101726721T>CCA484767601FGF14c.513A>G (p.Glu171=)
c.396A>G (p.Glu132=)
c.*102A>G (n.*102A>G)
c.*317A>G (n.*317A>G)
c.*412A>G (n.*412A>G)
c.246A>G (p.Glu82=)
c.498A>G (p.Glu166=)
c.318A>G (p.Glu106=)
c.309A>G (p.Glu103=)
c.402A>G (p.Glu134=)
c.312A>G (p.Glu104=)
c.357A>G (p.Glu119=)
13g.101726721T>GCA388711223FGF14c.513A>C (p.Glu171Asp)
c.396A>C (p.Glu132Asp)
c.*102A>C (n.*102A>C)
c.*317A>C (n.*317A>C)
c.*412A>C (n.*412A>C)
c.246A>C (p.Glu82Asp)
c.498A>C (p.Glu166Asp)
c.318A>C (p.Glu106Asp)
c.309A>C (p.Glu103Asp)
c.402A>C (p.Glu134Asp)
c.312A>C (p.Glu104Asp)
c.357A>C (p.Glu119Asp)
13g.101726722T>ACA388711224FGF14c.512A>T (p.Glu171Val)
c.395A>T (p.Glu132Val)
c.*101A>T (n.*101A>T)
c.*316A>T (n.*316A>T)
c.*411A>T (n.*411A>T)
c.245A>T (p.Glu82Val)
c.497A>T (p.Glu166Val)
c.317A>T (p.Glu106Val)
c.308A>T (p.Glu103Val)
c.401A>T (p.Glu134Val)
c.311A>T (p.Glu104Val)
c.356A>T (p.Glu119Val)
13g.101726722T>CCA388711225FGF14c.512A>G (p.Glu171Gly)
c.395A>G (p.Glu132Gly)
c.*101A>G (n.*101A>G)
c.*316A>G (n.*316A>G)
c.*411A>G (n.*411A>G)
c.245A>G (p.Glu82Gly)
c.497A>G (p.Glu166Gly)
c.317A>G (p.Glu106Gly)
c.308A>G (p.Glu103Gly)
c.401A>G (p.Glu134Gly)
c.311A>G (p.Glu104Gly)
c.356A>G (p.Glu119Gly)
13g.101726722T>GCA388711226FGF14c.512A>C (p.Glu171Ala)
c.395A>C (p.Glu132Ala)
c.*101A>C (n.*101A>C)
c.*316A>C (n.*316A>C)
c.*411A>C (n.*411A>C)
c.245A>C (p.Glu82Ala)
c.497A>C (p.Glu166Ala)
c.317A>C (p.Glu106Ala)
c.308A>C (p.Glu103Ala)
c.401A>C (p.Glu134Ala)
c.311A>C (p.Glu104Ala)
c.356A>C (p.Glu119Ala)
13g.101726723C>ACA388711227FGF14c.511G>T (p.Glu171Ter)
c.394G>T (p.Glu132Ter)
c.*100G>T (n.*100G>T)
c.*315G>T (n.*315G>T)
c.*410G>T (n.*410G>T)
c.244G>T (p.Glu82Ter)
c.496G>T (p.Glu166Ter)
c.316G>T (p.Glu106Ter)
c.307G>T (p.Glu103Ter)
c.400G>T (p.Glu134Ter)
c.310G>T (p.Glu104Ter)
c.355G>T (p.Glu119Ter)
13g.101726723C>GCA388711228FGF14c.511G>C (p.Glu171Gln)
c.394G>C (p.Glu132Gln)
c.*100G>C (n.*100G>C)
c.*315G>C (n.*315G>C)
c.*410G>C (n.*410G>C)
c.244G>C (p.Glu82Gln)
c.496G>C (p.Glu166Gln)
c.316G>C (p.Glu106Gln)
c.307G>C (p.Glu103Gln)
c.400G>C (p.Glu134Gln)
c.310G>C (p.Glu104Gln)
c.355G>C (p.Glu119Gln)
13g.101726723C>TCA388711229FGF14c.511G>A (p.Glu171Lys)
c.394G>A (p.Glu132Lys)
c.*100G>A (n.*100G>A)
c.*315G>A (n.*315G>A)
c.*410G>A (n.*410G>A)
c.244G>A (p.Glu82Lys)
c.496G>A (p.Glu166Lys)
c.316G>A (p.Glu106Lys)
c.307G>A (p.Glu103Lys)
c.400G>A (p.Glu134Lys)
c.310G>A (p.Glu104Lys)
c.355G>A (p.Glu119Lys)
13g.101726724C>ACA388711230FGF14c.510G>T (p.Gln170His)
c.393G>T (p.Gln131His)
c.*99G>T (n.*99G>T)
c.*314G>T (n.*314G>T)
c.*409G>T (n.*409G>T)
c.243G>T (p.Gln81His)
c.495G>T (p.Gln165His)
c.315G>T (p.Gln105His)
c.306G>T (p.Gln102His)
c.399G>T (p.Gln133His)
c.309G>T (p.Gln103His)
c.354G>T (p.Gln118His)
13g.101726724C>GCA388711231FGF14c.510G>C (p.Gln170His)
c.393G>C (p.Gln131His)
c.*99G>C (n.*99G>C)
c.*314G>C (n.*314G>C)
c.*409G>C (n.*409G>C)
c.243G>C (p.Gln81His)
c.495G>C (p.Gln165His)
c.315G>C (p.Gln105His)
c.306G>C (p.Gln102His)
c.399G>C (p.Gln133His)
c.309G>C (p.Gln103His)
c.354G>C (p.Gln118His)
13g.101726724C>TCA484767602FGF14c.510G>A (p.Gln170=)
c.393G>A (p.Gln131=)
c.*99G>A (n.*99G>A)
c.*314G>A (n.*314G>A)
c.*409G>A (n.*409G>A)
c.243G>A (p.Gln81=)
c.495G>A (p.Gln165=)
c.315G>A (p.Gln105=)
c.306G>A (p.Gln102=)
c.399G>A (p.Gln133=)
c.309G>A (p.Gln103=)
c.354G>A (p.Gln118=)
 gnomAD v4
13g.101726725T>ACA388711232FGF14c.509A>T (p.Gln170Leu)
c.392A>T (p.Gln131Leu)
c.*98A>T (n.*98A>T)
c.*313A>T (n.*313A>T)
c.*408A>T (n.*408A>T)
c.242A>T (p.Gln81Leu)
c.494A>T (p.Gln165Leu)
c.314A>T (p.Gln105Leu)
c.305A>T (p.Gln102Leu)
c.398A>T (p.Gln133Leu)
c.308A>T (p.Gln103Leu)
c.353A>T (p.Gln118Leu)
13g.101726725T>CCA388711234FGF14c.509A>G (p.Gln170Arg)
c.392A>G (p.Gln131Arg)
c.*98A>G (n.*98A>G)
c.*313A>G (n.*313A>G)
c.*408A>G (n.*408A>G)
c.242A>G (p.Gln81Arg)
c.494A>G (p.Gln165Arg)
c.314A>G (p.Gln105Arg)
c.305A>G (p.Gln102Arg)
c.398A>G (p.Gln133Arg)
c.308A>G (p.Gln103Arg)
c.353A>G (p.Gln118Arg)
 gnomAD v4
13g.101726725T>GCA388711233FGF14c.509A>C (p.Gln170Pro)
c.392A>C (p.Gln131Pro)
c.*98A>C (n.*98A>C)
c.*313A>C (n.*313A>C)
c.*408A>C (n.*408A>C)
c.242A>C (p.Gln81Pro)
c.494A>C (p.Gln165Pro)
c.314A>C (p.Gln105Pro)
c.305A>C (p.Gln102Pro)
c.398A>C (p.Gln133Pro)
c.308A>C (p.Gln103Pro)
c.353A>C (p.Gln118Pro)
13g.101726726G>ACA388711235FGF14c.508C>T (p.Gln170Ter)
c.391C>T (p.Gln131Ter)
c.*97C>T (n.*97C>T)
c.*312C>T (n.*312C>T)
c.*407C>T (n.*407C>T)
c.241C>T (p.Gln81Ter)
c.493C>T (p.Gln165Ter)
c.313C>T (p.Gln105Ter)
c.304C>T (p.Gln102Ter)
c.397C>T (p.Gln133Ter)
c.307C>T (p.Gln103Ter)
c.352C>T (p.Gln118Ter)
 dbSNP
13g.101726726G>CCA388711236FGF14c.508C>G (p.Gln170Glu)
c.391C>G (p.Gln131Glu)
c.*97C>G (n.*97C>G)
c.*312C>G (n.*312C>G)
c.*407C>G (n.*407C>G)
c.241C>G (p.Gln81Glu)
c.493C>G (p.Gln165Glu)
c.313C>G (p.Gln105Glu)
c.304C>G (p.Gln102Glu)
c.397C>G (p.Gln133Glu)
c.307C>G (p.Gln103Glu)
c.352C>G (p.Gln118Glu)
 dbSNP gnomAD v3 gnomAD v4
13g.101726726G>TCA388711237FGF14c.508C>A (p.Gln170Lys)
c.391C>A (p.Gln131Lys)
c.*97C>A (n.*97C>A)
c.*312C>A (n.*312C>A)
c.*407C>A (n.*407C>A)
c.241C>A (p.Gln81Lys)
c.493C>A (p.Gln165Lys)
c.313C>A (p.Gln105Lys)
c.304C>A (p.Gln102Lys)
c.397C>A (p.Gln133Lys)
c.307C>A (p.Gln103Lys)
c.352C>A (p.Gln118Lys)
13g.101726727T>ACA388711238FGF14c.507A>T (p.Gln169His)
c.390A>T (p.Gln130His)
c.*96A>T (n.*96A>T)
c.*311A>T (n.*311A>T)
c.*406A>T (n.*406A>T)
c.240A>T (p.Gln80His)
c.492A>T (p.Gln164His)
c.312A>T (p.Gln104His)
c.303A>T (p.Gln101His)
c.396A>T (p.Gln132His)
c.306A>T (p.Gln102His)
c.351A>T (p.Gln117His)
13g.101726727T>CCA484767603FGF14c.507A>G (p.Gln169=)
c.390A>G (p.Gln130=)
c.*96A>G (n.*96A>G)
c.*311A>G (n.*311A>G)
c.*406A>G (n.*406A>G)
c.240A>G (p.Gln80=)
c.492A>G (p.Gln164=)
c.312A>G (p.Gln104=)
c.303A>G (p.Gln101=)
c.396A>G (p.Gln132=)
c.306A>G (p.Gln102=)
c.351A>G (p.Gln117=)
13g.101726727T>GCA388711239FGF14c.507A>C (p.Gln169His)
c.390A>C (p.Gln130His)
c.*96A>C (n.*96A>C)
c.*311A>C (n.*311A>C)
c.*406A>C (n.*406A>C)
c.240A>C (p.Gln80His)
c.492A>C (p.Gln164His)
c.312A>C (p.Gln104His)
c.303A>C (p.Gln101His)
c.396A>C (p.Gln132His)
c.306A>C (p.Gln102His)
c.351A>C (p.Gln117His)
13g.101726728T>ACA388711240FGF14c.506A>T (p.Gln169Leu)
c.389A>T (p.Gln130Leu)
c.*95A>T (n.*95A>T)
c.*310A>T (n.*310A>T)
c.*405A>T (n.*405A>T)
c.239A>T (p.Gln80Leu)
c.491A>T (p.Gln164Leu)
c.311A>T (p.Gln104Leu)
c.302A>T (p.Gln101Leu)
c.395A>T (p.Gln132Leu)
c.305A>T (p.Gln102Leu)
c.350A>T (p.Gln117Leu)
13g.101726728T>CCA388711241FGF14c.506A>G (p.Gln169Arg)
c.389A>G (p.Gln130Arg)
c.*95A>G (n.*95A>G)
c.*310A>G (n.*310A>G)
c.*405A>G (n.*405A>G)
c.239A>G (p.Gln80Arg)
c.491A>G (p.Gln164Arg)
c.311A>G (p.Gln104Arg)
c.302A>G (p.Gln101Arg)
c.395A>G (p.Gln132Arg)
c.305A>G (p.Gln102Arg)
c.350A>G (p.Gln117Arg)
13g.101726728T>GCA388711242FGF14c.506A>C (p.Gln169Pro)
c.389A>C (p.Gln130Pro)
c.*95A>C (n.*95A>C)
c.*310A>C (n.*310A>C)
c.*405A>C (n.*405A>C)
c.239A>C (p.Gln80Pro)
c.491A>C (p.Gln164Pro)
c.311A>C (p.Gln104Pro)
c.302A>C (p.Gln101Pro)
c.395A>C (p.Gln132Pro)
c.305A>C (p.Gln102Pro)
c.350A>C (p.Gln117Pro)
13g.101726729G>ACA388711243FGF14c.505C>T (p.Gln169Ter)
c.388C>T (p.Gln130Ter)
c.*94C>T (n.*94C>T)
c.*309C>T (n.*309C>T)
c.*404C>T (n.*404C>T)
c.238C>T (p.Gln80Ter)
c.490C>T (p.Gln164Ter)
c.310C>T (p.Gln104Ter)
c.301C>T (p.Gln101Ter)
c.394C>T (p.Gln132Ter)
c.304C>T (p.Gln102Ter)
c.349C>T (p.Gln117Ter)
13g.101726729G>CCA388711244FGF14c.505C>G (p.Gln169Glu)
c.388C>G (p.Gln130Glu)
c.*94C>G (n.*94C>G)
c.*309C>G (n.*309C>G)
c.*404C>G (n.*404C>G)
c.238C>G (p.Gln80Glu)
c.490C>G (p.Gln164Glu)
c.310C>G (p.Gln104Glu)
c.301C>G (p.Gln101Glu)
c.394C>G (p.Gln132Glu)
c.304C>G (p.Gln102Glu)
c.349C>G (p.Gln117Glu)
13g.101726729G>TCA388711245FGF14c.505C>A (p.Gln169Lys)
c.388C>A (p.Gln130Lys)
c.*94C>A (n.*94C>A)
c.*309C>A (n.*309C>A)
c.*404C>A (n.*404C>A)
c.238C>A (p.Gln80Lys)
c.490C>A (p.Gln164Lys)
c.310C>A (p.Gln104Lys)
c.301C>A (p.Gln101Lys)
c.394C>A (p.Gln132Lys)
c.304C>A (p.Gln102Lys)
c.349C>A (p.Gln117Lys)
13g.101726730T>ACA388711247FGF14c.504A>T (p.Arg168Ser)
c.387A>T (p.Arg129Ser)
c.*93A>T (n.*93A>T)
c.*308A>T (n.*308A>T)
c.*403A>T (n.*403A>T)
c.237A>T (p.Arg79Ser)
c.489A>T (p.Arg163Ser)
c.309A>T (p.Arg103Ser)
c.300A>T (p.Arg100Ser)
c.393A>T (p.Arg131Ser)
c.303A>T (p.Arg101Ser)
c.348A>T (p.Arg116Ser)
13g.101726730T>CCA484767604FGF14c.504A>G (p.Arg168=)
c.387A>G (p.Arg129=)
c.*93A>G (n.*93A>G)
c.*308A>G (n.*308A>G)
c.*403A>G (n.*403A>G)
c.237A>G (p.Arg79=)
c.489A>G (p.Arg163=)
c.309A>G (p.Arg103=)
c.300A>G (p.Arg100=)
c.393A>G (p.Arg131=)
c.303A>G (p.Arg101=)
c.348A>G (p.Arg116=)
13g.101726730T>GCA388711246FGF14c.504A>C (p.Arg168Ser)
c.387A>C (p.Arg129Ser)
c.*93A>C (n.*93A>C)
c.*308A>C (n.*308A>C)
c.*403A>C (n.*403A>C)
c.237A>C (p.Arg79Ser)
c.489A>C (p.Arg163Ser)
c.309A>C (p.Arg103Ser)
c.300A>C (p.Arg100Ser)
c.393A>C (p.Arg131Ser)
c.303A>C (p.Arg101Ser)
c.348A>C (p.Arg116Ser)
13g.101726731C>ACA388711248FGF14c.503G>T (p.Arg168Ile)
c.386G>T (p.Arg129Ile)
c.*92G>T (n.*92G>T)
c.*307G>T (n.*307G>T)
c.*402G>T (n.*402G>T)
c.236G>T (p.Arg79Ile)
c.488G>T (p.Arg163Ile)
c.308G>T (p.Arg103Ile)
c.299G>T (p.Arg100Ile)
c.392G>T (p.Arg131Ile)
c.302G>T (p.Arg101Ile)
c.347G>T (p.Arg116Ile)
13g.101726731C=CA2114682813FGF14c.503G= (p.Arg168=)
c.386G= (p.Arg129=)
c.*92G= (n.*92G=)
c.*307G= (n.*307G=)
c.*402G= (n.*402G=)
c.236G= (p.Arg79=)
c.488G= (p.Arg163=)
c.308G= (p.Arg103=)
c.299G= (p.Arg100=)
c.392G= (p.Arg131=)
c.302G= (p.Arg101=)
c.347G= (p.Arg116=)
13g.101726731C>GCA388711249FGF14c.503G>C (p.Arg168Thr)
c.386G>C (p.Arg129Thr)
c.*92G>C (n.*92G>C)
c.*307G>C (n.*307G>C)
c.*402G>C (n.*402G>C)
c.236G>C (p.Arg79Thr)
c.488G>C (p.Arg163Thr)
c.308G>C (p.Arg103Thr)
c.299G>C (p.Arg100Thr)
c.392G>C (p.Arg131Thr)
c.302G>C (p.Arg101Thr)
c.347G>C (p.Arg116Thr)
 gnomAD v4
13g.101726731C>TCA388711250FGF14c.503G>A (p.Arg168Lys)
c.386G>A (p.Arg129Lys)
c.*92G>A (n.*92G>A)
c.*307G>A (n.*307G>A)
c.*402G>A (n.*402G>A)
c.236G>A (p.Arg79Lys)
c.488G>A (p.Arg163Lys)
c.308G>A (p.Arg103Lys)
c.299G>A (p.Arg100Lys)
c.392G>A (p.Arg131Lys)
c.302G>A (p.Arg101Lys)
c.347G>A (p.Arg116Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.101726731_101726732delinsCTCA2114682811FGF14c.502_503delinsAG (p.Arg168=)
c.385_386delinsAG (p.Arg129=)
c.*91_*92delinsAG (n.*91_*92delinsAG)
c.*306_*307delinsAG (n.*306_*307delinsAG)
c.*401_*402delinsAG (n.*401_*402delinsAG)
c.235_236delinsAG (p.Arg79=)
c.487_488delinsAG (p.Arg163=)
c.307_308delinsAG (p.Arg103=)
c.298_299delinsAG (p.Arg100=)
c.391_392delinsAG (p.Arg131=)
c.301_302delinsAG (p.Arg101=)
c.346_347delinsAG (p.Arg116=)
13g.101726732delCA254320FGF14c.502del (p.Arg168AspfsTer13)
c.385del (p.Arg129AspfsTer13)
c.*91del (n.*91del)
c.*306del (n.*306del)
c.*401del (n.*401del)
c.235del (p.Arg79AspfsTer13)
c.487del (p.Arg163AspfsTer13)
c.307del (p.Arg103AspfsTer13)
c.298del (p.Arg100AspfsTer13)
c.391del (p.Arg131AspfsTer13)
c.301del (p.Arg101AspfsTer13)
c.346del (p.Arg116AspfsTer13)
 ClinVar dbSNP
13g.101726732T>ACA388711251FGF14c.502A>T (p.Arg168Ter)
c.385A>T (p.Arg129Ter)
c.*91A>T (n.*91A>T)
c.*306A>T (n.*306A>T)
c.*401A>T (n.*401A>T)
c.235A>T (p.Arg79Ter)
c.487A>T (p.Arg163Ter)
c.307A>T (p.Arg103Ter)
c.298A>T (p.Arg100Ter)
c.391A>T (p.Arg131Ter)
c.301A>T (p.Arg101Ter)
c.346A>T (p.Arg116Ter)
13g.101726732T>CCA388711252FGF14c.502A>G (p.Arg168Gly)
c.385A>G (p.Arg129Gly)
c.*91A>G (n.*91A>G)
c.*306A>G (n.*306A>G)
c.*401A>G (n.*401A>G)
c.235A>G (p.Arg79Gly)
c.487A>G (p.Arg163Gly)
c.307A>G (p.Arg103Gly)
c.298A>G (p.Arg100Gly)
c.391A>G (p.Arg131Gly)
c.301A>G (p.Arg101Gly)
c.346A>G (p.Arg116Gly)
13g.101726732T>GCA484767605FGF14c.502A>C (p.Arg168=)
c.385A>C (p.Arg129=)
c.*91A>C (n.*91A>C)
c.*306A>C (n.*306A>C)
c.*401A>C (n.*401A>C)
c.235A>C (p.Arg79=)
c.487A>C (p.Arg163=)
c.307A>C (p.Arg103=)
c.298A>C (p.Arg100=)
c.391A>C (p.Arg131=)
c.301A>C (p.Arg101=)
c.346A>C (p.Arg116=)
 COSMIC COSMIC
13g.101726732T=CA2114682819FGF14c.502A= (p.Arg168=)
c.385A= (p.Arg129=)
c.*91A= (n.*91A=)
c.*306A= (n.*306A=)
c.*401A= (n.*401A=)
c.235A= (p.Arg79=)
c.487A= (p.Arg163=)
c.307A= (p.Arg103=)
c.298A= (p.Arg100=)
c.391A= (p.Arg131=)
c.301A= (p.Arg101=)
c.346A= (p.Arg116=)
13g.101726733G>ACA484767606FGF14c.501C>T (p.Tyr167=)
c.384C>T (p.Tyr128=)
c.*90C>T (n.*90C>T)
c.*305C>T (n.*305C>T)
c.*400C>T (n.*400C>T)
c.234C>T (p.Tyr78=)
c.486C>T (p.Tyr162=)
c.306C>T (p.Tyr102=)
c.297C>T (p.Tyr99=)
c.390C>T (p.Tyr130=)
c.300C>T (p.Tyr100=)
c.345C>T (p.Tyr115=)
 dbSNP
13g.101726733G>CCA388711253FGF14c.501C>G (p.Tyr167Ter)
c.384C>G (p.Tyr128Ter)
c.*90C>G (n.*90C>G)
c.*305C>G (n.*305C>G)
c.*400C>G (n.*400C>G)
c.234C>G (p.Tyr78Ter)
c.486C>G (p.Tyr162Ter)
c.306C>G (p.Tyr102Ter)
c.297C>G (p.Tyr99Ter)
c.390C>G (p.Tyr130Ter)
c.300C>G (p.Tyr100Ter)
c.345C>G (p.Tyr115Ter)
13g.101726733G>TCA388711254FGF14c.501C>A (p.Tyr167Ter)
c.384C>A (p.Tyr128Ter)
c.*90C>A (n.*90C>A)
c.*305C>A (n.*305C>A)
c.*400C>A (n.*400C>A)
c.234C>A (p.Tyr78Ter)
c.486C>A (p.Tyr162Ter)
c.306C>A (p.Tyr102Ter)
c.297C>A (p.Tyr99Ter)
c.390C>A (p.Tyr130Ter)
c.300C>A (p.Tyr100Ter)
c.345C>A (p.Tyr115Ter)
 gnomAD v4
13g.101726733dupCA913190430FGF14c.501dup (p.Arg168GlnfsTer7)
c.384dup (p.Arg129GlnfsTer7)
c.*90dup (n.*90dup)
c.*305dup (n.*305dup)
c.*400dup (n.*400dup)
c.234dup (p.Arg79GlnfsTer7)
c.486dup (p.Arg163GlnfsTer7)
c.306dup (p.Arg103GlnfsTer7)
c.297dup (p.Arg100GlnfsTer7)
c.390dup (p.Arg131GlnfsTer7)
c.300dup (p.Arg101GlnfsTer7)
c.345dup (p.Arg116GlnfsTer7)
 ClinVar dbSNP
13g.101726734T>ACA388711255FGF14c.500A>T (p.Tyr167Phe)
c.383A>T (p.Tyr128Phe)
c.*89A>T (n.*89A>T)
c.*304A>T (n.*304A>T)
c.*399A>T (n.*399A>T)
c.233A>T (p.Tyr78Phe)
c.485A>T (p.Tyr162Phe)
c.305A>T (p.Tyr102Phe)
c.296A>T (p.Tyr99Phe)
c.389A>T (p.Tyr130Phe)
c.299A>T (p.Tyr100Phe)
c.344A>T (p.Tyr115Phe)
13g.101726734T>CCA388711256FGF14c.500A>G (p.Tyr167Cys)
c.383A>G (p.Tyr128Cys)
c.*89A>G (n.*89A>G)
c.*304A>G (n.*304A>G)
c.*399A>G (n.*399A>G)
c.233A>G (p.Tyr78Cys)
c.485A>G (p.Tyr162Cys)
c.305A>G (p.Tyr102Cys)
c.296A>G (p.Tyr99Cys)
c.389A>G (p.Tyr130Cys)
c.299A>G (p.Tyr100Cys)
c.344A>G (p.Tyr115Cys)
13g.101726734T>GCA388711257FGF14c.500A>C (p.Tyr167Ser)
c.383A>C (p.Tyr128Ser)
c.*89A>C (n.*89A>C)
c.*304A>C (n.*304A>C)
c.*399A>C (n.*399A>C)
c.233A>C (p.Tyr78Ser)
c.485A>C (p.Tyr162Ser)
c.305A>C (p.Tyr102Ser)
c.296A>C (p.Tyr99Ser)
c.389A>C (p.Tyr130Ser)
c.299A>C (p.Tyr100Ser)
c.344A>C (p.Tyr115Ser)
13g.101726735A>CCA388711258FGF14c.499T>G (p.Tyr167Asp)
c.382T>G (p.Tyr128Asp)
c.*88T>G (n.*88T>G)
c.*303T>G (n.*303T>G)
c.*398T>G (n.*398T>G)
c.232T>G (p.Tyr78Asp)
c.484T>G (p.Tyr162Asp)
c.304T>G (p.Tyr102Asp)
c.295T>G (p.Tyr99Asp)
c.388T>G (p.Tyr130Asp)
c.298T>G (p.Tyr100Asp)
c.343T>G (p.Tyr115Asp)
13g.101726735A>GCA388711259FGF14c.499T>C (p.Tyr167His)
c.382T>C (p.Tyr128His)
c.*88T>C (n.*88T>C)
c.*303T>C (n.*303T>C)
c.*398T>C (n.*398T>C)
c.232T>C (p.Tyr78His)
c.484T>C (p.Tyr162His)
c.304T>C (p.Tyr102His)
c.295T>C (p.Tyr99His)
c.388T>C (p.Tyr130His)
c.298T>C (p.Tyr100His)
c.343T>C (p.Tyr115His)
 gnomAD v4
13g.101726735A>TCA388711260FGF14c.499T>A (p.Tyr167Asn)
c.382T>A (p.Tyr128Asn)
c.*88T>A (n.*88T>A)
c.*303T>A (n.*303T>A)
c.*398T>A (n.*398T>A)
c.232T>A (p.Tyr78Asn)
c.484T>A (p.Tyr162Asn)
c.304T>A (p.Tyr102Asn)
c.295T>A (p.Tyr99Asn)
c.388T>A (p.Tyr130Asn)
c.298T>A (p.Tyr100Asn)
c.343T>A (p.Tyr115Asn)
13g.101726736C>ACA388711261FGF14c.498G>T (p.Leu166Phe)
c.381G>T (p.Leu127Phe)
c.*87G>T (n.*87G>T)
c.*302G>T (n.*302G>T)
c.*397G>T (n.*397G>T)
c.231G>T (p.Leu77Phe)
c.483G>T (p.Leu161Phe)
c.303G>T (p.Leu101Phe)
c.294G>T (p.Leu98Phe)
c.387G>T (p.Leu129Phe)
c.297G>T (p.Leu99Phe)
c.342G>T (p.Leu114Phe)
13g.101726736C>GCA388711262FGF14c.498G>C (p.Leu166Phe)
c.381G>C (p.Leu127Phe)
c.*87G>C (n.*87G>C)
c.*302G>C (n.*302G>C)
c.*397G>C (n.*397G>C)
c.231G>C (p.Leu77Phe)
c.483G>C (p.Leu161Phe)
c.303G>C (p.Leu101Phe)
c.294G>C (p.Leu98Phe)
c.387G>C (p.Leu129Phe)
c.297G>C (p.Leu99Phe)
c.342G>C (p.Leu114Phe)
13g.101726736C>TCA484767607FGF14c.498G>A (p.Leu166=)
c.381G>A (p.Leu127=)
c.*87G>A (n.*87G>A)
c.*302G>A (n.*302G>A)
c.*397G>A (n.*397G>A)
c.231G>A (p.Leu77=)
c.483G>A (p.Leu161=)
c.303G>A (p.Leu101=)
c.294G>A (p.Leu98=)
c.387G>A (p.Leu129=)
c.297G>A (p.Leu99=)
c.342G>A (p.Leu114=)
 dbSNP
13g.101726737A>CCA388711263FGF14c.497T>G (p.Leu166Trp)
c.380T>G (p.Leu127Trp)
c.*86T>G (n.*86T>G)
c.*301T>G (n.*301T>G)
c.*396T>G (n.*396T>G)
c.230T>G (p.Leu77Trp)
c.482T>G (p.Leu161Trp)
c.302T>G (p.Leu101Trp)
c.293T>G (p.Leu98Trp)
c.386T>G (p.Leu129Trp)
c.296T>G (p.Leu99Trp)
c.341T>G (p.Leu114Trp)
 ClinVar COSMIC COSMIC
13g.101726737A>GCA388711264FGF14c.497T>C (p.Leu166Ser)
c.380T>C (p.Leu127Ser)
c.*86T>C (n.*86T>C)
c.*301T>C (n.*301T>C)
c.*396T>C (n.*396T>C)
c.230T>C (p.Leu77Ser)
c.482T>C (p.Leu161Ser)
c.302T>C (p.Leu101Ser)
c.293T>C (p.Leu98Ser)
c.386T>C (p.Leu129Ser)
c.296T>C (p.Leu99Ser)
c.341T>C (p.Leu114Ser)
13g.101726737A>TCA388711265FGF14c.497T>A (p.Leu166Ter)
c.380T>A (p.Leu127Ter)
c.*86T>A (n.*86T>A)
c.*301T>A (n.*301T>A)
c.*396T>A (n.*396T>A)
c.230T>A (p.Leu77Ter)
c.482T>A (p.Leu161Ter)
c.302T>A (p.Leu101Ter)
c.293T>A (p.Leu98Ter)
c.386T>A (p.Leu129Ter)
c.296T>A (p.Leu99Ter)
c.341T>A (p.Leu114Ter)
13g.101726738A=CA2114682824FGF14c.496T= (p.Leu166=)
c.379T= (p.Leu127=)
c.*85T= (n.*85T=)
c.*300T= (n.*300T=)
c.*395T= (n.*395T=)
c.229T= (p.Leu77=)
c.481T= (p.Leu161=)
c.301T= (p.Leu101=)
c.292T= (p.Leu98=)
c.385T= (p.Leu129=)
c.295T= (p.Leu99=)
c.340T= (p.Leu114=)
13g.101726738A>CCA388711266FGF14c.496T>G (p.Leu166Val)
c.379T>G (p.Leu127Val)
c.*85T>G (n.*85T>G)
c.*300T>G (n.*300T>G)
c.*395T>G (n.*395T>G)
c.229T>G (p.Leu77Val)
c.481T>G (p.Leu161Val)
c.301T>G (p.Leu101Val)
c.292T>G (p.Leu98Val)
c.385T>G (p.Leu129Val)
c.295T>G (p.Leu99Val)
c.340T>G (p.Leu114Val)
13g.101726738A>GCA7037149FGF14c.496T>C (p.Leu166=)
c.379T>C (p.Leu127=)
c.*85T>C (n.*85T>C)
c.*300T>C (n.*300T>C)
c.*395T>C (n.*395T>C)
c.229T>C (p.Leu77=)
c.481T>C (p.Leu161=)
c.301T>C (p.Leu101=)
c.292T>C (p.Leu98=)
c.385T>C (p.Leu129=)
c.295T>C (p.Leu99=)
c.340T>C (p.Leu114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101726738A>TCA388711267FGF14c.496T>A (p.Leu166Met)
c.379T>A (p.Leu127Met)
c.*85T>A (n.*85T>A)
c.*300T>A (n.*300T>A)
c.*395T>A (n.*395T>A)
c.229T>A (p.Leu77Met)
c.481T>A (p.Leu161Met)
c.301T>A (p.Leu101Met)
c.292T>A (p.Leu98Met)
c.385T>A (p.Leu129Met)
c.295T>A (p.Leu99Met)
c.340T>A (p.Leu114Met)
 dbSNP gnomAD v2 gnomAD v4
13g.101726739C>ACA388711268FGF14c.495G>T (p.Met165Ile)
c.378G>T (p.Met126Ile)
c.*84G>T (n.*84G>T)
c.*299G>T (n.*299G>T)
c.*394G>T (n.*394G>T)
c.228G>T (p.Met76Ile)
c.480G>T (p.Met160Ile)
c.300G>T (p.Met100Ile)
c.291G>T (p.Met97Ile)
c.384G>T (p.Met128Ile)
c.294G>T (p.Met98Ile)
c.339G>T (p.Met113Ile)
13g.101726739C=CA2114682828FGF14c.495G= (p.Met165=)
c.378G= (p.Met126=)
c.*84G= (n.*84G=)
c.*299G= (n.*299G=)
c.*394G= (n.*394G=)
c.228G= (p.Met76=)
c.480G= (p.Met160=)
c.300G= (p.Met100=)
c.291G= (p.Met97=)
c.384G= (p.Met128=)
c.294G= (p.Met98=)
c.339G= (p.Met113=)
13g.101726739C>GCA388711269FGF14c.495G>C (p.Met165Ile)
c.378G>C (p.Met126Ile)
c.*84G>C (n.*84G>C)
c.*299G>C (n.*299G>C)
c.*394G>C (n.*394G>C)
c.228G>C (p.Met76Ile)
c.480G>C (p.Met160Ile)
c.300G>C (p.Met100Ile)
c.291G>C (p.Met97Ile)
c.384G>C (p.Met128Ile)
c.294G>C (p.Met98Ile)
c.339G>C (p.Met113Ile)
13g.101726739C>TCA388711270FGF14c.495G>A (p.Met165Ile)
c.378G>A (p.Met126Ile)
c.*84G>A (n.*84G>A)
c.*299G>A (n.*299G>A)
c.*394G>A (n.*394G>A)
c.228G>A (p.Met76Ile)
c.480G>A (p.Met160Ile)
c.300G>A (p.Met100Ile)
c.291G>A (p.Met97Ile)
c.384G>A (p.Met128Ile)
c.294G>A (p.Met98Ile)
c.339G>A (p.Met113Ile)
 dbSNP gnomAD v2 gnomAD v4
13g.101726740A=CA2114682831FGF14c.494T= (p.Met165=)
c.377T= (p.Met126=)
c.*83T= (n.*83T=)
c.*298T= (n.*298T=)
c.*393T= (n.*393T=)
c.227T= (p.Met76=)
c.479T= (p.Met160=)
c.299T= (p.Met100=)
c.290T= (p.Met97=)
c.383T= (p.Met128=)
c.293T= (p.Met98=)
c.338T= (p.Met113=)
13g.101726740A>CCA388711271FGF14c.494T>G (p.Met165Arg)
c.377T>G (p.Met126Arg)
c.*83T>G (n.*83T>G)
c.*298T>G (n.*298T>G)
c.*393T>G (n.*393T>G)
c.227T>G (p.Met76Arg)
c.479T>G (p.Met160Arg)
c.299T>G (p.Met100Arg)
c.290T>G (p.Met97Arg)
c.383T>G (p.Met128Arg)
c.293T>G (p.Met98Arg)
c.338T>G (p.Met113Arg)
13g.101726740A>GCA388711272FGF14c.494T>C (p.Met165Thr)
c.377T>C (p.Met126Thr)
c.*83T>C (n.*83T>C)
c.*298T>C (n.*298T>C)
c.*393T>C (n.*393T>C)
c.227T>C (p.Met76Thr)
c.479T>C (p.Met160Thr)
c.299T>C (p.Met100Thr)
c.290T>C (p.Met97Thr)
c.383T>C (p.Met128Thr)
c.293T>C (p.Met98Thr)
c.338T>C (p.Met113Thr)
 dbSNP
13g.101726740A>TCA388711273FGF14c.494T>A (p.Met165Lys)
c.377T>A (p.Met126Lys)
c.*83T>A (n.*83T>A)
c.*298T>A (n.*298T>A)
c.*393T>A (n.*393T>A)
c.227T>A (p.Met76Lys)
c.479T>A (p.Met160Lys)
c.299T>A (p.Met100Lys)
c.290T>A (p.Met97Lys)
c.383T>A (p.Met128Lys)
c.293T>A (p.Met98Lys)
c.338T>A (p.Met113Lys)
13g.101726741T>ACA388711276FGF14c.493A>T (p.Met165Leu)
c.376A>T (p.Met126Leu)
c.*82A>T (n.*82A>T)
c.*297A>T (n.*297A>T)
c.*392A>T (n.*392A>T)
c.226A>T (p.Met76Leu)
c.478A>T (p.Met160Leu)
c.298A>T (p.Met100Leu)
c.289A>T (p.Met97Leu)
c.382A>T (p.Met128Leu)
c.292A>T (p.Met98Leu)
c.337A>T (p.Met113Leu)
13g.101726741T>CCA388711275FGF14c.493A>G (p.Met165Val)
c.376A>G (p.Met126Val)
c.*82A>G (n.*82A>G)
c.*297A>G (n.*297A>G)
c.*392A>G (n.*392A>G)
c.226A>G (p.Met76Val)
c.478A>G (p.Met160Val)
c.298A>G (p.Met100Val)
c.289A>G (p.Met97Val)
c.382A>G (p.Met128Val)
c.292A>G (p.Met98Val)
c.337A>G (p.Met113Val)
13g.101726741T>GCA388711274FGF14c.493A>C (p.Met165Leu)
c.376A>C (p.Met126Leu)
c.*82A>C (n.*82A>C)
c.*297A>C (n.*297A>C)
c.*392A>C (n.*392A>C)
c.226A>C (p.Met76Leu)
c.478A>C (p.Met160Leu)
c.298A>C (p.Met100Leu)
c.289A>C (p.Met97Leu)
c.382A>C (p.Met128Leu)
c.292A>C (p.Met98Leu)
c.337A>C (p.Met113Leu)
 dbSNP gnomAD v3 gnomAD v4
13g.101726741T=CA2114682838FGF14c.493A= (p.Met165=)
c.376A= (p.Met126=)
c.*82A= (n.*82A=)
c.*297A= (n.*297A=)
c.*392A= (n.*392A=)
c.226A= (p.Met76=)
c.478A= (p.Met160=)
c.298A= (p.Met100=)
c.289A= (p.Met97=)
c.382A= (p.Met128=)
c.292A= (p.Met98=)
c.337A= (p.Met113=)
13g.101726742G>ACA7037150FGF14c.492C>T (p.Ser164=)
c.375C>T (p.Ser125=)
c.*81C>T (n.*81C>T)
c.*296C>T (n.*296C>T)
c.*391C>T (n.*391C>T)
c.225C>T (p.Ser75=)
c.477C>T (p.Ser159=)
c.297C>T (p.Ser99=)
c.288C>T (p.Ser96=)
c.381C>T (p.Ser127=)
c.291C>T (p.Ser97=)
c.336C>T (p.Ser112=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.101726742G>CCA484767609FGF14c.492C>G (p.Ser164=)
c.375C>G (p.Ser125=)
c.*81C>G (n.*81C>G)
c.*296C>G (n.*296C>G)
c.*391C>G (n.*391C>G)
c.225C>G (p.Ser75=)
c.477C>G (p.Ser159=)
c.297C>G (p.Ser99=)
c.288C>G (p.Ser96=)
c.381C>G (p.Ser127=)
c.291C>G (p.Ser97=)
c.336C>G (p.Ser112=)
13g.101726742G=CA2114682840FGF14c.492C= (p.Ser164=)
c.375C= (p.Ser125=)
c.*81C= (n.*81C=)
c.*296C= (n.*296C=)
c.*391C= (n.*391C=)
c.225C= (p.Ser75=)
c.477C= (p.Ser159=)
c.297C= (p.Ser99=)
c.288C= (p.Ser96=)
c.381C= (p.Ser127=)
c.291C= (p.Ser97=)
c.336C= (p.Ser112=)
13g.101726742G>TCA484767608FGF14c.492C>A (p.Ser164=)
c.375C>A (p.Ser125=)
c.*81C>A (n.*81C>A)
c.*296C>A (n.*296C>A)
c.*391C>A (n.*391C>A)
c.225C>A (p.Ser75=)
c.477C>A (p.Ser159=)
c.297C>A (p.Ser99=)
c.288C>A (p.Ser96=)
c.381C>A (p.Ser127=)
c.291C>A (p.Ser97=)
c.336C>A (p.Ser112=)
 gnomAD v4
13g.101726743G>ACA388711277FGF14c.491C>T (p.Ser164Phe)
c.374C>T (p.Ser125Phe)
c.*80C>T (n.*80C>T)
c.*295C>T (n.*295C>T)
c.*390C>T (n.*390C>T)
c.224C>T (p.Ser75Phe)
c.476C>T (p.Ser159Phe)
c.296C>T (p.Ser99Phe)
c.287C>T (p.Ser96Phe)
c.380C>T (p.Ser127Phe)
c.290C>T (p.Ser97Phe)
c.335C>T (p.Ser112Phe)
13g.101726743G>CCA388711278FGF14c.491C>G (p.Ser164Cys)
c.374C>G (p.Ser125Cys)
c.*80C>G (n.*80C>G)
c.*295C>G (n.*295C>G)
c.*390C>G (n.*390C>G)
c.224C>G (p.Ser75Cys)
c.476C>G (p.Ser159Cys)
c.296C>G (p.Ser99Cys)
c.287C>G (p.Ser96Cys)
c.380C>G (p.Ser127Cys)
c.290C>G (p.Ser97Cys)
c.335C>G (p.Ser112Cys)
13g.101726743G>TCA388711279FGF14c.491C>A (p.Ser164Tyr)
c.374C>A (p.Ser125Tyr)
c.*80C>A (n.*80C>A)
c.*295C>A (n.*295C>A)
c.*390C>A (n.*390C>A)
c.224C>A (p.Ser75Tyr)
c.476C>A (p.Ser159Tyr)
c.296C>A (p.Ser99Tyr)
c.287C>A (p.Ser96Tyr)
c.380C>A (p.Ser127Tyr)
c.290C>A (p.Ser97Tyr)
c.335C>A (p.Ser112Tyr)
13g.101726744A>CCA388711280FGF14c.490T>G (p.Ser164Ala)
c.373T>G (p.Ser125Ala)
c.*79T>G (n.*79T>G)
c.*294T>G (n.*294T>G)
c.*389T>G (n.*389T>G)
c.223T>G (p.Ser75Ala)
c.475T>G (p.Ser159Ala)
c.295T>G (p.Ser99Ala)
c.286T>G (p.Ser96Ala)
c.379T>G (p.Ser127Ala)
c.289T>G (p.Ser97Ala)
c.334T>G (p.Ser112Ala)
13g.101726744A>GCA388711281FGF14c.490T>C (p.Ser164Pro)
c.373T>C (p.Ser125Pro)
c.*79T>C (n.*79T>C)
c.*294T>C (n.*294T>C)
c.*389T>C (n.*389T>C)
c.223T>C (p.Ser75Pro)
c.475T>C (p.Ser159Pro)
c.295T>C (p.Ser99Pro)
c.286T>C (p.Ser96Pro)
c.379T>C (p.Ser127Pro)
c.289T>C (p.Ser97Pro)
c.334T>C (p.Ser112Pro)
13g.101726744A>TCA388711282FGF14c.490T>A (p.Ser164Thr)
c.373T>A (p.Ser125Thr)
c.*79T>A (n.*79T>A)
c.*294T>A (n.*294T>A)
c.*389T>A (n.*389T>A)
c.223T>A (p.Ser75Thr)
c.475T>A (p.Ser159Thr)
c.295T>A (p.Ser99Thr)
c.286T>A (p.Ser96Thr)
c.379T>A (p.Ser127Thr)
c.289T>A (p.Ser97Thr)
c.334T>A (p.Ser112Thr)
13g.101726745T>ACA484767610FGF14c.489A>T (p.Ser163=)
c.372A>T (p.Ser124=)
c.*78A>T (n.*78A>T)
c.*293A>T (n.*293A>T)
c.*388A>T (n.*388A>T)
c.222A>T (p.Ser74=)
c.474A>T (p.Ser158=)
c.294A>T (p.Ser98=)
c.285A>T (p.Ser95=)
c.378A>T (p.Ser126=)
c.288A>T (p.Ser96=)
c.333A>T (p.Ser111=)
13g.101726745T>CCA484767611FGF14c.489A>G (p.Ser163=)
c.372A>G (p.Ser124=)
c.*78A>G (n.*78A>G)
c.*293A>G (n.*293A>G)
c.*388A>G (n.*388A>G)
c.222A>G (p.Ser74=)
c.474A>G (p.Ser158=)
c.294A>G (p.Ser98=)
c.285A>G (p.Ser95=)
c.378A>G (p.Ser126=)
c.288A>G (p.Ser96=)
c.333A>G (p.Ser111=)
 gnomAD v4
13g.101726745T>GCA484767612FGF14c.489A>C (p.Ser163=)
c.372A>C (p.Ser124=)
c.*78A>C (n.*78A>C)
c.*293A>C (n.*293A>C)
c.*388A>C (n.*388A>C)
c.222A>C (p.Ser74=)
c.474A>C (p.Ser158=)
c.294A>C (p.Ser98=)
c.285A>C (p.Ser95=)
c.378A>C (p.Ser126=)
c.288A>C (p.Ser96=)
c.333A>C (p.Ser111=)
13g.101726746G>ACA388711283FGF14c.488C>T (p.Ser163Leu)
c.371C>T (p.Ser124Leu)
c.*77C>T (n.*77C>T)
c.*292C>T (n.*292C>T)
c.*387C>T (n.*387C>T)
c.221C>T (p.Ser74Leu)
c.473C>T (p.Ser158Leu)
c.293C>T (p.Ser98Leu)
c.284C>T (p.Ser95Leu)
c.377C>T (p.Ser126Leu)
c.287C>T (p.Ser96Leu)
c.332C>T (p.Ser111Leu)
 COSMIC COSMIC
13g.101726746G>CCA388711284FGF14c.488C>G (p.Ser163Ter)
c.371C>G (p.Ser124Ter)
c.*77C>G (n.*77C>G)
c.*292C>G (n.*292C>G)
c.*387C>G (n.*387C>G)
c.221C>G (p.Ser74Ter)
c.473C>G (p.Ser158Ter)
c.293C>G (p.Ser98Ter)
c.284C>G (p.Ser95Ter)
c.377C>G (p.Ser126Ter)
c.287C>G (p.Ser96Ter)
c.332C>G (p.Ser111Ter)
13g.101726746G>TCA388711285FGF14c.488C>A (p.Ser163Ter)
c.371C>A (p.Ser124Ter)
c.*77C>A (n.*77C>A)
c.*292C>A (n.*292C>A)
c.*387C>A (n.*387C>A)
c.221C>A (p.Ser74Ter)
c.473C>A (p.Ser158Ter)
c.293C>A (p.Ser98Ter)
c.284C>A (p.Ser95Ter)
c.377C>A (p.Ser126Ter)
c.287C>A (p.Ser96Ter)
c.332C>A (p.Ser111Ter)
13g.101726747A>CCA388711286FGF14c.487T>G (p.Ser163Ala)
c.370T>G (p.Ser124Ala)
c.*76T>G (n.*76T>G)
c.*291T>G (n.*291T>G)
c.*386T>G (n.*386T>G)
c.220T>G (p.Ser74Ala)
c.472T>G (p.Ser158Ala)
c.292T>G (p.Ser98Ala)
c.283T>G (p.Ser95Ala)
c.376T>G (p.Ser126Ala)
c.286T>G (p.Ser96Ala)
c.331T>G (p.Ser111Ala)
 gnomAD v4
13g.101726747A>GCA388711287FGF14c.487T>C (p.Ser163Pro)
c.370T>C (p.Ser124Pro)
c.*76T>C (n.*76T>C)
c.*291T>C (n.*291T>C)
c.*386T>C (n.*386T>C)
c.220T>C (p.Ser74Pro)
c.472T>C (p.Ser158Pro)
c.292T>C (p.Ser98Pro)
c.283T>C (p.Ser95Pro)
c.376T>C (p.Ser126Pro)
c.286T>C (p.Ser96Pro)
c.331T>C (p.Ser111Pro)
13g.101726747A>TCA388711288FGF14c.487T>A (p.Ser163Thr)
c.370T>A (p.Ser124Thr)
c.*76T>A (n.*76T>A)
c.*291T>A (n.*291T>A)
c.*386T>A (n.*386T>A)
c.220T>A (p.Ser74Thr)
c.472T>A (p.Ser158Thr)
c.292T>A (p.Ser98Thr)
c.283T>A (p.Ser95Thr)
c.376T>A (p.Ser126Thr)
c.286T>A (p.Ser96Thr)
c.331T>A (p.Ser111Thr)
13g.101726748G>ACA7037151FGF14c.486C>T (p.Tyr162=)
c.369C>T (p.Tyr123=)
c.*75C>T (n.*75C>T)
c.*290C>T (n.*290C>T)
c.*385C>T (n.*385C>T)
c.219C>T (p.Tyr73=)
c.471C>T (p.Tyr157=)
c.291C>T (p.Tyr97=)
c.282C>T (p.Tyr94=)
c.375C>T (p.Tyr125=)
c.285C>T (p.Tyr95=)
c.330C>T (p.Tyr110=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.101726748G>CCA388711290FGF14c.486C>G (p.Tyr162Ter)
c.369C>G (p.Tyr123Ter)
c.*75C>G (n.*75C>G)
c.*290C>G (n.*290C>G)
c.*385C>G (n.*385C>G)
c.219C>G (p.Tyr73Ter)
c.471C>G (p.Tyr157Ter)
c.291C>G (p.Tyr97Ter)
c.282C>G (p.Tyr94Ter)
c.375C>G (p.Tyr125Ter)
c.285C>G (p.Tyr95Ter)
c.330C>G (p.Tyr110Ter)
13g.101726748G=CA2114682843FGF14c.486C= (p.Tyr162=)
c.369C= (p.Tyr123=)
c.*75C= (n.*75C=)
c.*290C= (n.*290C=)
c.*385C= (n.*385C=)
c.219C= (p.Tyr73=)
c.471C= (p.Tyr157=)
c.291C= (p.Tyr97=)
c.282C= (p.Tyr94=)
c.375C= (p.Tyr125=)
c.285C= (p.Tyr95=)
c.330C= (p.Tyr110=)
13g.101726748G>TCA388711289FGF14c.486C>A (p.Tyr162Ter)
c.369C>A (p.Tyr123Ter)
c.*75C>A (n.*75C>A)
c.*290C>A (n.*290C>A)
c.*385C>A (n.*385C>A)
c.219C>A (p.Tyr73Ter)
c.471C>A (p.Tyr157Ter)
c.291C>A (p.Tyr97Ter)
c.282C>A (p.Tyr94Ter)
c.375C>A (p.Tyr125Ter)
c.285C>A (p.Tyr95Ter)
c.330C>A (p.Tyr110Ter)
13g.101726749T>ACA388711291FGF14c.485A>T (p.Tyr162Phe)
c.368A>T (p.Tyr123Phe)
c.*74A>T (n.*74A>T)
c.*289A>T (n.*289A>T)
c.*384A>T (n.*384A>T)
c.218A>T (p.Tyr73Phe)
c.470A>T (p.Tyr157Phe)
c.290A>T (p.Tyr97Phe)
c.281A>T (p.Tyr94Phe)
c.374A>T (p.Tyr125Phe)
c.284A>T (p.Tyr95Phe)
c.329A>T (p.Tyr110Phe)
13g.101726749T>CCA388711292FGF14c.485A>G (p.Tyr162Cys)
c.368A>G (p.Tyr123Cys)
c.*74A>G (n.*74A>G)
c.*289A>G (n.*289A>G)
c.*384A>G (n.*384A>G)
c.218A>G (p.Tyr73Cys)
c.470A>G (p.Tyr157Cys)
c.290A>G (p.Tyr97Cys)
c.281A>G (p.Tyr94Cys)
c.374A>G (p.Tyr125Cys)
c.284A>G (p.Tyr95Cys)
c.329A>G (p.Tyr110Cys)
13g.101726749T>GCA388711293FGF14c.485A>C (p.Tyr162Ser)
c.368A>C (p.Tyr123Ser)
c.*74A>C (n.*74A>C)
c.*289A>C (n.*289A>C)
c.*384A>C (n.*384A>C)
c.218A>C (p.Tyr73Ser)
c.470A>C (p.Tyr157Ser)
c.290A>C (p.Tyr97Ser)
c.281A>C (p.Tyr94Ser)
c.374A>C (p.Tyr125Ser)
c.284A>C (p.Tyr95Ser)
c.329A>C (p.Tyr110Ser)
13g.101726750A=CA2114682845FGF14c.484T= (p.Tyr162=)
c.367T= (p.Tyr123=)
c.*73T= (n.*73T=)
c.*288T= (n.*288T=)
c.*383T= (n.*383T=)
c.217T= (p.Tyr73=)
c.469T= (p.Tyr157=)
c.289T= (p.Tyr97=)
c.280T= (p.Tyr94=)
c.373T= (p.Tyr125=)
c.283T= (p.Tyr95=)
c.328T= (p.Tyr110=)
13g.101726750A>CCA388711294FGF14c.484T>G (p.Tyr162Asp)
c.367T>G (p.Tyr123Asp)
c.*73T>G (n.*73T>G)
c.*288T>G (n.*288T>G)
c.*383T>G (n.*383T>G)
c.217T>G (p.Tyr73Asp)
c.469T>G (p.Tyr157Asp)
c.289T>G (p.Tyr97Asp)
c.280T>G (p.Tyr94Asp)
c.373T>G (p.Tyr125Asp)
c.283T>G (p.Tyr95Asp)
c.328T>G (p.Tyr110Asp)
13g.101726750A>GCA388711295FGF14c.484T>C (p.Tyr162His)
c.367T>C (p.Tyr123His)
c.*73T>C (n.*73T>C)
c.*288T>C (n.*288T>C)
c.*383T>C (n.*383T>C)
c.217T>C (p.Tyr73His)
c.469T>C (p.Tyr157His)
c.289T>C (p.Tyr97His)
c.280T>C (p.Tyr94His)
c.373T>C (p.Tyr125His)
c.283T>C (p.Tyr95His)
c.328T>C (p.Tyr110His)
13g.101726750A>TCA388711296FGF14c.484T>A (p.Tyr162Asn)
c.367T>A (p.Tyr123Asn)
c.*73T>A (n.*73T>A)
c.*288T>A (n.*288T>A)
c.*383T>A (n.*383T>A)
c.217T>A (p.Tyr73Asn)
c.469T>A (p.Tyr157Asn)
c.289T>A (p.Tyr97Asn)
c.280T>A (p.Tyr94Asn)
c.373T>A (p.Tyr125Asn)
c.283T>A (p.Tyr95Asn)
c.328T>A (p.Tyr110Asn)
13g.101726750_101726751insTTATCA612359428FGF14c.483_484insATAA (p.Tyr162IlefsTer14)
c.366_367insATAA (p.Tyr123IlefsTer14)
c.*72_*73insATAA (n.*72_*73insATAA)
c.*287_*288insATAA (n.*287_*288insATAA)
c.*382_*383insATAA (n.*382_*383insATAA)
c.216_217insATAA (p.Tyr73IlefsTer14)
c.468_469insATAA (p.Tyr157IlefsTer14)
c.288_289insATAA (p.Tyr97IlefsTer14)
c.279_280insATAA (p.Tyr94IlefsTer14)
c.372_373insATAA (p.Tyr125IlefsTer14)
c.282_283insATAA (p.Tyr95IlefsTer14)
c.327_328insATAA (p.Tyr110IlefsTer14)
 dbSNP gnomAD v2
13g.101726750_101726751insTTATGCATCA2842159586FGF14c.483_484insATGCATAA (p.Tyr162MetfsTer22)
c.366_367insATGCATAA (p.Tyr123MetfsTer22)
c.*72_*73insATGCATAA (n.*72_*73insATGCATAA)
c.*287_*288insATGCATAA (n.*287_*288insATGCATAA)
c.*382_*383insATGCATAA (n.*382_*383insATGCATAA)
c.216_217insATGCATAA (p.Tyr73MetfsTer22)
c.468_469insATGCATAA (p.Tyr157MetfsTer22)
c.288_289insATGCATAA (p.Tyr97MetfsTer22)
c.279_280insATGCATAA (p.Tyr94MetfsTer22)
c.372_373insATGCATAA (p.Tyr125MetfsTer22)
c.282_283insATGCATAA (p.Tyr95MetfsTer22)
c.327_328insATGCATAA (p.Tyr110MetfsTer22)
13g.101726751G>ACA7037152FGF14c.483C>T (p.Ile161=)
c.366C>T (p.Ile122=)
c.*72C>T (n.*72C>T)
c.*287C>T (n.*287C>T)
c.*382C>T (n.*382C>T)
c.216C>T (p.Ile72=)
c.468C>T (p.Ile156=)
c.288C>T (p.Ile96=)
c.279C>T (p.Ile93=)
c.372C>T (p.Ile124=)
c.282C>T (p.Ile94=)
c.327C>T (p.Ile109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101726751G>CCA388711297FGF14c.483C>G (p.Ile161Met)
c.366C>G (p.Ile122Met)
c.*72C>G (n.*72C>G)
c.*287C>G (n.*287C>G)
c.*382C>G (n.*382C>G)
c.216C>G (p.Ile72Met)
c.468C>G (p.Ile156Met)
c.288C>G (p.Ile96Met)
c.279C>G (p.Ile93Met)
c.372C>G (p.Ile124Met)
c.282C>G (p.Ile94Met)
c.327C>G (p.Ile109Met)
13g.101726751G=CA2114682850FGF14c.483C= (p.Ile161=)
c.366C= (p.Ile122=)
c.*72C= (n.*72C=)
c.*287C= (n.*287C=)
c.*382C= (n.*382C=)
c.216C= (p.Ile72=)
c.468C= (p.Ile156=)
c.288C= (p.Ile96=)
c.279C= (p.Ile93=)
c.372C= (p.Ile124=)
c.282C= (p.Ile94=)
c.327C= (p.Ile109=)
13g.101726751G>TCA484767613FGF14c.483C>A (p.Ile161=)
c.366C>A (p.Ile122=)
c.*72C>A (n.*72C>A)
c.*287C>A (n.*287C>A)
c.*382C>A (n.*382C>A)
c.216C>A (p.Ile72=)
c.468C>A (p.Ile156=)
c.288C>A (p.Ile96=)
c.279C>A (p.Ile93=)
c.372C>A (p.Ile124=)
c.282C>A (p.Ile94=)
c.327C>A (p.Ile109=)
13g.101726751_101726752insCATGCATTATTCA2729145121FGF14c.482_483insAATAATGCATG (p.Tyr162IlefsTer23)
c.365_366insAATAATGCATG (p.Tyr123IlefsTer23)
c.*71_*72insAATAATGCATG (n.*71_*72insAATAATGCATG)
c.*286_*287insAATAATGCATG (n.*286_*287insAATAATGCATG)
c.*381_*382insAATAATGCATG (n.*381_*382insAATAATGCATG)
c.215_216insAATAATGCATG (p.Tyr73IlefsTer23)
c.467_468insAATAATGCATG (p.Tyr157IlefsTer23)
c.287_288insAATAATGCATG (p.Tyr97IlefsTer23)
c.278_279insAATAATGCATG (p.Tyr94IlefsTer23)
c.371_372insAATAATGCATG (p.Tyr125IlefsTer23)
c.281_282insAATAATGCATG (p.Tyr95IlefsTer23)
c.326_327insAATAATGCATG (p.Tyr110IlefsTer23)
 dbSNP
13g.101726752A=CA2114682853FGF14c.482T= (p.Ile161=)
c.365T= (p.Ile122=)
c.*71T= (n.*71T=)
c.*286T= (n.*286T=)
c.*381T= (n.*381T=)
c.215T= (p.Ile72=)
c.467T= (p.Ile156=)
c.287T= (p.Ile96=)
c.278T= (p.Ile93=)
c.371T= (p.Ile124=)
c.281T= (p.Ile94=)
c.326T= (p.Ile109=)
13g.101726752A>CCA388711298FGF14c.482T>G (p.Ile161Ser)
c.365T>G (p.Ile122Ser)
c.*71T>G (n.*71T>G)
c.*286T>G (n.*286T>G)
c.*381T>G (n.*381T>G)
c.215T>G (p.Ile72Ser)
c.467T>G (p.Ile156Ser)
c.287T>G (p.Ile96Ser)
c.278T>G (p.Ile93Ser)
c.371T>G (p.Ile124Ser)
c.281T>G (p.Ile94Ser)
c.326T>G (p.Ile109Ser)
 dbSNP
13g.101726752A>GCA388711299FGF14c.482T>C (p.Ile161Thr)
c.365T>C (p.Ile122Thr)
c.*71T>C (n.*71T>C)
c.*286T>C (n.*286T>C)
c.*381T>C (n.*381T>C)
c.215T>C (p.Ile72Thr)
c.467T>C (p.Ile156Thr)
c.287T>C (p.Ile96Thr)
c.278T>C (p.Ile93Thr)
c.371T>C (p.Ile124Thr)
c.281T>C (p.Ile94Thr)
c.326T>C (p.Ile109Thr)
13g.101726752A>TCA388711300FGF14c.482T>A (p.Ile161Asn)
c.365T>A (p.Ile122Asn)
c.*71T>A (n.*71T>A)
c.*286T>A (n.*286T>A)
c.*381T>A (n.*381T>A)
c.215T>A (p.Ile72Asn)
c.467T>A (p.Ile156Asn)
c.287T>A (p.Ile96Asn)
c.278T>A (p.Ile93Asn)
c.371T>A (p.Ile124Asn)
c.281T>A (p.Ile94Asn)
c.326T>A (p.Ile109Asn)
13g.101726753T>ACA388711301FGF14c.481A>T (p.Ile161Phe)
c.364A>T (p.Ile122Phe)
c.*70A>T (n.*70A>T)
c.*285A>T (n.*285A>T)
c.*380A>T (n.*380A>T)
c.214A>T (p.Ile72Phe)
c.466A>T (p.Ile156Phe)
c.286A>T (p.Ile96Phe)
c.277A>T (p.Ile93Phe)
c.370A>T (p.Ile124Phe)
c.280A>T (p.Ile94Phe)
c.325A>T (p.Ile109Phe)
13g.101726753T>CCA388711302FGF14c.481A>G (p.Ile161Val)
c.364A>G (p.Ile122Val)
c.*70A>G (n.*70A>G)
c.*285A>G (n.*285A>G)
c.*380A>G (n.*380A>G)
c.214A>G (p.Ile72Val)
c.466A>G (p.Ile156Val)
c.286A>G (p.Ile96Val)
c.277A>G (p.Ile93Val)
c.370A>G (p.Ile124Val)
c.280A>G (p.Ile94Val)
c.325A>G (p.Ile109Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.101726753T>GCA388711303FGF14c.481A>C (p.Ile161Leu)
c.364A>C (p.Ile122Leu)
c.*70A>C (n.*70A>C)
c.*285A>C (n.*285A>C)
c.*380A>C (n.*380A>C)
c.214A>C (p.Ile72Leu)
c.466A>C (p.Ile156Leu)
c.286A>C (p.Ile96Leu)
c.277A>C (p.Ile93Leu)
c.370A>C (p.Ile124Leu)
c.280A>C (p.Ile94Leu)
c.325A>C (p.Ile109Leu)
13g.101726753T=CA2114682856FGF14c.481A= (p.Ile161=)
c.364A= (p.Ile122=)
c.*70A= (n.*70A=)
c.*285A= (n.*285A=)
c.*380A= (n.*380A=)
c.214A= (p.Ile72=)
c.466A= (p.Ile156=)
c.286A= (p.Ile96=)
c.277A= (p.Ile93=)
c.370A= (p.Ile124=)
c.280A= (p.Ile94=)
c.325A= (p.Ile109=)
13g.101726754T>ACA484767614FGF14c.480A>T (p.Val160=)
c.363A>T (p.Val121=)
c.*69A>T (n.*69A>T)
c.*284A>T (n.*284A>T)
c.*379A>T (n.*379A>T)
c.213A>T (p.Val71=)
c.465A>T (p.Val155=)
c.285A>T (p.Val95=)
c.276A>T (p.Val92=)
c.369A>T (p.Val123=)
c.279A>T (p.Val93=)
c.324A>T (p.Val108=)
13g.101726754T>CCA484767615FGF14c.480A>G (p.Val160=)
c.363A>G (p.Val121=)
c.*69A>G (n.*69A>G)
c.*284A>G (n.*284A>G)
c.*379A>G (n.*379A>G)
c.213A>G (p.Val71=)
c.465A>G (p.Val155=)
c.285A>G (p.Val95=)
c.276A>G (p.Val92=)
c.369A>G (p.Val123=)
c.279A>G (p.Val93=)
c.324A>G (p.Val108=)
13g.101726754T>GCA484767616FGF14c.480A>C (p.Val160=)
c.363A>C (p.Val121=)
c.*69A>C (n.*69A>C)
c.*284A>C (n.*284A>C)
c.*379A>C (n.*379A>C)
c.213A>C (p.Val71=)
c.465A>C (p.Val155=)
c.285A>C (p.Val95=)
c.276A>C (p.Val92=)
c.369A>C (p.Val123=)
c.279A>C (p.Val93=)
c.324A>C (p.Val108=)
 gnomAD v4
13g.101726755A>CCA388711305FGF14c.479T>G (p.Val160Gly)
c.362T>G (p.Val121Gly)
c.*68T>G (n.*68T>G)
c.*283T>G (n.*283T>G)
c.*378T>G (n.*378T>G)
c.212T>G (p.Val71Gly)
c.464T>G (p.Val155Gly)
c.284T>G (p.Val95Gly)
c.275T>G (p.Val92Gly)
c.368T>G (p.Val123Gly)
c.278T>G (p.Val93Gly)
c.323T>G (p.Val108Gly)
13g.101726755A>GCA388711306FGF14c.479T>C (p.Val160Ala)
c.362T>C (p.Val121Ala)
c.*68T>C (n.*68T>C)
c.*283T>C (n.*283T>C)
c.*378T>C (n.*378T>C)
c.212T>C (p.Val71Ala)
c.464T>C (p.Val155Ala)
c.284T>C (p.Val95Ala)
c.275T>C (p.Val92Ala)
c.368T>C (p.Val123Ala)
c.278T>C (p.Val93Ala)
c.323T>C (p.Val108Ala)
13g.101726755A>TCA388711304FGF14c.479T>A (p.Val160Glu)
c.362T>A (p.Val121Glu)
c.*68T>A (n.*68T>A)
c.*283T>A (n.*283T>A)
c.*378T>A (n.*378T>A)
c.212T>A (p.Val71Glu)
c.464T>A (p.Val155Glu)
c.284T>A (p.Val95Glu)
c.275T>A (p.Val92Glu)
c.368T>A (p.Val123Glu)
c.278T>A (p.Val93Glu)
c.323T>A (p.Val108Glu)
13g.101726757_101728057delCA2580087033FGF14c.424-1245_479del
c.307-1245_362del
c.*13-1245_*68del
c.*228-1245_*283del
c.*323-1245_*378del
c.157-1245_212del
c.409-1245_464del
c.229-1245_284del
c.220-1245_275del
c.313-1245_368del
c.223-1245_278del
c.268-1245_323del
 ClinVar
13g.101726756C>ACA388711307FGF14c.478G>T (p.Val160Leu)
c.361G>T (p.Val121Leu)
c.*67G>T (n.*67G>T)
c.*282G>T (n.*282G>T)
c.*377G>T (n.*377G>T)
c.211G>T (p.Val71Leu)
c.463G>T (p.Val155Leu)
c.283G>T (p.Val95Leu)
c.274G>T (p.Val92Leu)
c.367G>T (p.Val123Leu)
c.277G>T (p.Val93Leu)
c.322G>T (p.Val108Leu)
13g.101726756C>GCA388711308FGF14c.478G>C (p.Val160Leu)
c.361G>C (p.Val121Leu)
c.*67G>C (n.*67G>C)
c.*282G>C (n.*282G>C)
c.*377G>C (n.*377G>C)
c.211G>C (p.Val71Leu)
c.463G>C (p.Val155Leu)
c.283G>C (p.Val95Leu)
c.274G>C (p.Val92Leu)
c.367G>C (p.Val123Leu)
c.277G>C (p.Val93Leu)
c.322G>C (p.Val108Leu)
13g.101726756C>TCA388711309FGF14c.478G>A (p.Val160Ile)
c.361G>A (p.Val121Ile)
c.*67G>A (n.*67G>A)
c.*282G>A (n.*282G>A)
c.*377G>A (n.*377G>A)
c.211G>A (p.Val71Ile)
c.463G>A (p.Val155Ile)
c.283G>A (p.Val95Ile)
c.274G>A (p.Val92Ile)
c.367G>A (p.Val123Ile)
c.277G>A (p.Val93Ile)
c.322G>A (p.Val108Ile)
13g.101726757A=CA2114682858FGF14c.477T= (p.Tyr159=)
c.360T= (p.Tyr120=)
c.*66T= (n.*66T=)
c.*281T= (n.*281T=)
c.*376T= (n.*376T=)
c.210T= (p.Tyr70=)
c.462T= (p.Tyr154=)
c.282T= (p.Tyr94=)
c.273T= (p.Tyr91=)
c.366T= (p.Tyr122=)
c.276T= (p.Tyr92=)
c.321T= (p.Tyr107=)
13g.101726757A>CCA388711310FGF14c.477T>G (p.Tyr159Ter)
c.360T>G (p.Tyr120Ter)
c.*66T>G (n.*66T>G)
c.*281T>G (n.*281T>G)
c.*376T>G (n.*376T>G)
c.210T>G (p.Tyr70Ter)
c.462T>G (p.Tyr154Ter)
c.282T>G (p.Tyr94Ter)
c.273T>G (p.Tyr91Ter)
c.366T>G (p.Tyr122Ter)
c.276T>G (p.Tyr92Ter)
c.321T>G (p.Tyr107Ter)
13g.101726757A>GCA484767617FGF14c.477T>C (p.Tyr159=)
c.360T>C (p.Tyr120=)
c.*66T>C (n.*66T>C)
c.*281T>C (n.*281T>C)
c.*376T>C (n.*376T>C)
c.210T>C (p.Tyr70=)
c.462T>C (p.Tyr154=)
c.282T>C (p.Tyr94=)
c.273T>C (p.Tyr91=)
c.366T>C (p.Tyr122=)
c.276T>C (p.Tyr92=)
c.321T>C (p.Tyr107=)
 dbSNP gnomAD v3 gnomAD v4
13g.101726757A>TCA388711311FGF14c.477T>A (p.Tyr159Ter)
c.360T>A (p.Tyr120Ter)
c.*66T>A (n.*66T>A)
c.*281T>A (n.*281T>A)
c.*376T>A (n.*376T>A)
c.210T>A (p.Tyr70Ter)
c.462T>A (p.Tyr154Ter)
c.282T>A (p.Tyr94Ter)
c.273T>A (p.Tyr91Ter)
c.366T>A (p.Tyr122Ter)
c.276T>A (p.Tyr92Ter)
c.321T>A (p.Tyr107Ter)
13g.101726758T>ACA388711314FGF14c.476A>T (p.Tyr159Phe)
c.359A>T (p.Tyr120Phe)
c.*65A>T (n.*65A>T)
c.*280A>T (n.*280A>T)
c.*375A>T (n.*375A>T)
c.209A>T (p.Tyr70Phe)
c.461A>T (p.Tyr154Phe)
c.281A>T (p.Tyr94Phe)
c.272A>T (p.Tyr91Phe)
c.365A>T (p.Tyr122Phe)
c.275A>T (p.Tyr92Phe)
c.320A>T (p.Tyr107Phe)
 gnomAD v4
13g.101726758T>CCA388711313FGF14c.476A>G (p.Tyr159Cys)
c.359A>G (p.Tyr120Cys)
c.*65A>G (n.*65A>G)
c.*280A>G (n.*280A>G)
c.*375A>G (n.*375A>G)
c.209A>G (p.Tyr70Cys)
c.461A>G (p.Tyr154Cys)
c.281A>G (p.Tyr94Cys)
c.272A>G (p.Tyr91Cys)
c.365A>G (p.Tyr122Cys)
c.275A>G (p.Tyr92Cys)
c.320A>G (p.Tyr107Cys)
13g.101726758T>GCA388711312FGF14c.476A>C (p.Tyr159Ser)
c.359A>C (p.Tyr120Ser)
c.*65A>C (n.*65A>C)
c.*280A>C (n.*280A>C)
c.*375A>C (n.*375A>C)
c.209A>C (p.Tyr70Ser)
c.461A>C (p.Tyr154Ser)
c.281A>C (p.Tyr94Ser)
c.272A>C (p.Tyr91Ser)
c.365A>C (p.Tyr122Ser)
c.275A>C (p.Tyr92Ser)
c.320A>C (p.Tyr107Ser)
13g.101726759A=CA2114682862FGF14c.475T= (p.Tyr159=)
c.358T= (p.Tyr120=)
c.*64T= (n.*64T=)
c.*279T= (n.*279T=)
c.*374T= (n.*374T=)
c.208T= (p.Tyr70=)
c.460T= (p.Tyr154=)
c.280T= (p.Tyr94=)
c.271T= (p.Tyr91=)
c.364T= (p.Tyr122=)
c.274T= (p.Tyr92=)
c.319T= (p.Tyr107=)
13g.101726759A>CCA388711315FGF14c.475T>G (p.Tyr159Asp)
c.358T>G (p.Tyr120Asp)
c.*64T>G (n.*64T>G)
c.*279T>G (n.*279T>G)
c.*374T>G (n.*374T>G)
c.208T>G (p.Tyr70Asp)
c.460T>G (p.Tyr154Asp)
c.280T>G (p.Tyr94Asp)
c.271T>G (p.Tyr91Asp)
c.364T>G (p.Tyr122Asp)
c.274T>G (p.Tyr92Asp)
c.319T>G (p.Tyr107Asp)
13g.101726759A>GCA388711316FGF14c.475T>C (p.Tyr159His)
c.358T>C (p.Tyr120His)
c.*64T>C (n.*64T>C)
c.*279T>C (n.*279T>C)
c.*374T>C (n.*374T>C)
c.208T>C (p.Tyr70His)
c.460T>C (p.Tyr154His)
c.280T>C (p.Tyr94His)
c.271T>C (p.Tyr91His)
c.364T>C (p.Tyr122His)
c.274T>C (p.Tyr92His)
c.319T>C (p.Tyr107His)
 gnomAD v4
13g.101726759A>TCA388711317FGF14c.475T>A (p.Tyr159Asn)
c.358T>A (p.Tyr120Asn)
c.*64T>A (n.*64T>A)
c.*279T>A (n.*279T>A)
c.*374T>A (n.*374T>A)
c.208T>A (p.Tyr70Asn)
c.460T>A (p.Tyr154Asn)
c.280T>A (p.Tyr94Asn)
c.271T>A (p.Tyr91Asn)
c.364T>A (p.Tyr122Asn)
c.274T>A (p.Tyr92Asn)
c.319T>A (p.Tyr107Asn)
13g.101726759_101726760insGCA2838308458FGF14c.474_475insC (p.Tyr159LeufsTer16)
c.357_358insC (p.Tyr120LeufsTer16)
c.*63_*64insC (n.*63_*64insC)
c.*278_*279insC (n.*278_*279insC)
c.*373_*374insC (n.*373_*374insC)
c.207_208insC (p.Tyr70LeufsTer16)
c.459_460insC (p.Tyr154LeufsTer16)
c.279_280insC (p.Tyr94LeufsTer16)
c.270_271insC (p.Tyr91LeufsTer16)
c.363_364insC (p.Tyr122LeufsTer16)
c.273_274insC (p.Tyr92LeufsTer16)
c.318_319insC (p.Tyr107LeufsTer16)
13g.101726759_101726760insGACTTCA7037153FGF14c.474_475insAAGTC (p.Tyr159LysfsTer4)
c.357_358insAAGTC (p.Tyr120LysfsTer4)
c.*63_*64insAAGTC (n.*63_*64insAAGTC)
c.*278_*279insAAGTC (n.*278_*279insAAGTC)
c.*373_*374insAAGTC (n.*373_*374insAAGTC)
c.207_208insAAGTC (p.Tyr70LysfsTer4)
c.459_460insAAGTC (p.Tyr154LysfsTer4)
c.279_280insAAGTC (p.Tyr94LysfsTer4)
c.270_271insAAGTC (p.Tyr91LysfsTer4)
c.363_364insAAGTC (p.Tyr122LysfsTer4)
c.273_274insAAGTC (p.Tyr92LysfsTer4)
c.318_319insAAGTC (p.Tyr107LysfsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.101726759_101726760insGACTTATTACCA612359429FGF14c.474_475insGTAATAAGTC (p.Tyr159ValfsTer19)
c.357_358insGTAATAAGTC (p.Tyr120ValfsTer19)
c.*63_*64insGTAATAAGTC (n.*63_*64insGTAATAAGTC)
c.*278_*279insGTAATAAGTC (n.*278_*279insGTAATAAGTC)
c.*373_*374insGTAATAAGTC (n.*373_*374insGTAATAAGTC)
c.207_208insGTAATAAGTC (p.Tyr70ValfsTer19)
c.459_460insGTAATAAGTC (p.Tyr154ValfsTer19)
c.279_280insGTAATAAGTC (p.Tyr94ValfsTer19)
c.270_271insGTAATAAGTC (p.Tyr91ValfsTer19)
c.363_364insGTAATAAGTC (p.Tyr122ValfsTer19)
c.273_274insGTAATAAGTC (p.Tyr92ValfsTer19)
c.318_319insGTAATAAGTC (p.Tyr107ValfsTer19)
 gnomAD v2
13g.101726759_101726760insGACTTATTACATCA612359430FGF14c.474_475insATGTAATAAGTC
c.357_358insATGTAATAAGTC
c.*63_*64insATGTAATAAGTC (n.*63_*64insATGTAATAAGTC)
c.*278_*279insATGTAATAAGTC (n.*278_*279insATGTAATAAGTC)
c.*373_*374insATGTAATAAGTC (n.*373_*374insATGTAATAAGTC)
c.207_208insATGTAATAAGTC
c.459_460insATGTAATAAGTC
c.279_280insATGTAATAAGTC
c.270_271insATGTAATAAGTC
c.363_364insATGTAATAAGTC
c.273_274insATGTAATAAGTC
c.318_319insATGTAATAAGTC
 gnomAD v2
13g.101726760A=CA2114682866FGF14c.474T= (p.Tyr158=)
c.357T= (p.Tyr119=)
c.*63T= (n.*63T=)
c.*278T= (n.*278T=)
c.*373T= (n.*373T=)
c.207T= (p.Tyr69=)
c.459T= (p.Tyr153=)
c.279T= (p.Tyr93=)
c.270T= (p.Tyr90=)
c.363T= (p.Tyr121=)
c.273T= (p.Tyr91=)
c.318T= (p.Tyr106=)
13g.101726760A>CCA388711318FGF14c.474T>G (p.Tyr158Ter)
c.357T>G (p.Tyr119Ter)
c.*63T>G (n.*63T>G)
c.*278T>G (n.*278T>G)
c.*373T>G (n.*373T>G)
c.207T>G (p.Tyr69Ter)
c.459T>G (p.Tyr153Ter)
c.279T>G (p.Tyr93Ter)
c.270T>G (p.Tyr90Ter)
c.363T>G (p.Tyr121Ter)
c.273T>G (p.Tyr91Ter)
c.318T>G (p.Tyr106Ter)
13g.101726760A>GCA484767618FGF14c.474T>C (p.Tyr158=)
c.357T>C (p.Tyr119=)
c.*63T>C (n.*63T>C)
c.*278T>C (n.*278T>C)
c.*373T>C (n.*373T>C)
c.207T>C (p.Tyr69=)
c.459T>C (p.Tyr153=)
c.279T>C (p.Tyr93=)
c.270T>C (p.Tyr90=)
c.363T>C (p.Tyr121=)
c.273T>C (p.Tyr91=)
c.318T>C (p.Tyr106=)
 dbSNP
13g.101726760A>TCA388711319FGF14c.474T>A (p.Tyr158Ter)
c.357T>A (p.Tyr119Ter)
c.*63T>A (n.*63T>A)
c.*278T>A (n.*278T>A)
c.*373T>A (n.*373T>A)
c.207T>A (p.Tyr69Ter)
c.459T>A (p.Tyr153Ter)
c.279T>A (p.Tyr93Ter)
c.270T>A (p.Tyr90Ter)
c.363T>A (p.Tyr121Ter)
c.273T>A (p.Tyr91Ter)
c.318T>A (p.Tyr106Ter)
13g.101726760_101726761insCCA2838308456FGF14c.473_474insG (p.Tyr158Ter)
c.356_357insG (p.Tyr119Ter)
c.*62_*63insG (n.*62_*63insG)
c.*277_*278insG (n.*277_*278insG)
c.*372_*373insG (n.*372_*373insG)
c.206_207insG (p.Tyr69Ter)
c.458_459insG (p.Tyr153Ter)
c.278_279insG (p.Tyr93Ter)
c.269_270insG (p.Tyr90Ter)
c.362_363insG (p.Tyr121Ter)
c.272_273insG (p.Tyr91Ter)
c.317_318insG (p.Tyr106Ter)
13g.101726760_101726761insGGAAGGGCAAGCTATGAAAGGGAACAGAGCA2729145140FGF14c.473_474insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr159SerfsTer12)
c.356_357insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr120SerfsTer12)
c.*62_*63insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (n.*62_*63insCTCTGTTCCCTTTCATAGCTTGCCCTTCC)
c.*277_*278insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (n.*277_*278insCTCTGTTCCCTTTCATAGCTTGCCCTTCC)
c.*372_*373insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (n.*372_*373insCTCTGTTCCCTTTCATAGCTTGCCCTTCC)
c.206_207insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr70SerfsTer12)
c.458_459insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr154SerfsTer12)
c.278_279insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr94SerfsTer12)
c.269_270insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr91SerfsTer12)
c.362_363insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr122SerfsTer12)
c.272_273insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr92SerfsTer12)
c.317_318insCTCTGTTCCCTTTCATAGCTTGCCCTTCC (p.Tyr107SerfsTer12)
 dbSNP
13g.101726761T>ACA388711320FGF14c.473A>T (p.Tyr158Phe)
c.356A>T (p.Tyr119Phe)
c.*62A>T (n.*62A>T)
c.*277A>T (n.*277A>T)
c.*372A>T (n.*372A>T)
c.206A>T (p.Tyr69Phe)
c.458A>T (p.Tyr153Phe)
c.278A>T (p.Tyr93Phe)
c.269A>T (p.Tyr90Phe)
c.362A>T (p.Tyr121Phe)
c.272A>T (p.Tyr91Phe)
c.317A>T (p.Tyr106Phe)
13g.101726761T>CCA388711322FGF14c.473A>G (p.Tyr158Cys)
c.356A>G (p.Tyr119Cys)
c.*62A>G (n.*62A>G)
c.*277A>G (n.*277A>G)
c.*372A>G (n.*372A>G)
c.206A>G (p.Tyr69Cys)
c.458A>G (p.Tyr153Cys)
c.278A>G (p.Tyr93Cys)
c.269A>G (p.Tyr90Cys)
c.362A>G (p.Tyr121Cys)
c.272A>G (p.Tyr91Cys)
c.317A>G (p.Tyr106Cys)
13g.101726761T>GCA388711321FGF14c.473A>C (p.Tyr158Ser)
c.356A>C (p.Tyr119Ser)
c.*62A>C (n.*62A>C)
c.*277A>C (n.*277A>C)
c.*372A>C (n.*372A>C)
c.206A>C (p.Tyr69Ser)
c.458A>C (p.Tyr153Ser)
c.278A>C (p.Tyr93Ser)
c.269A>C (p.Tyr90Ser)
c.362A>C (p.Tyr121Ser)
c.272A>C (p.Tyr91Ser)
c.317A>C (p.Tyr106Ser)
13g.101726762A=CA2114682869FGF14c.472T= (p.Tyr158=)
c.355T= (p.Tyr119=)
c.*61T= (n.*61T=)
c.*276T= (n.*276T=)
c.*371T= (n.*371T=)
c.205T= (p.Tyr69=)
c.457T= (p.Tyr153=)
c.277T= (p.Tyr93=)
c.268T= (p.Tyr90=)
c.361T= (p.Tyr121=)
c.271T= (p.Tyr91=)
c.316T= (p.Tyr106=)
13g.101726762A>CCA388711323FGF14c.472T>G (p.Tyr158Asp)
c.355T>G (p.Tyr119Asp)
c.*61T>G (n.*61T>G)
c.*276T>G (n.*276T>G)
c.*371T>G (n.*371T>G)
c.205T>G (p.Tyr69Asp)
c.457T>G (p.Tyr153Asp)
c.277T>G (p.Tyr93Asp)
c.268T>G (p.Tyr90Asp)
c.361T>G (p.Tyr121Asp)
c.271T>G (p.Tyr91Asp)
c.316T>G (p.Tyr106Asp)
13g.101726762A>GCA388711324FGF14c.472T>C (p.Tyr158His)
c.355T>C (p.Tyr119His)
c.*61T>C (n.*61T>C)
c.*276T>C (n.*276T>C)
c.*371T>C (n.*371T>C)
c.205T>C (p.Tyr69His)
c.457T>C (p.Tyr153His)
c.277T>C (p.Tyr93His)
c.268T>C (p.Tyr90His)
c.361T>C (p.Tyr121His)
c.271T>C (p.Tyr91His)
c.316T>C (p.Tyr106His)
13g.101726762A>TCA7037154FGF14c.472T>A (p.Tyr158Asn)
c.355T>A (p.Tyr119Asn)
c.*61T>A (n.*61T>A)
c.*276T>A (n.*276T>A)
c.*371T>A (n.*371T>A)
c.205T>A (p.Tyr69Asn)
c.457T>A (p.Tyr153Asn)
c.277T>A (p.Tyr93Asn)
c.268T>A (p.Tyr90Asn)
c.361T>A (p.Tyr121Asn)
c.271T>A (p.Tyr91Asn)
c.316T>A (p.Tyr106Asn)
 dbSNP ExAC gnomAD v2
13g.101726763A=CA2114682873FGF14c.471T= (p.Asn157=)
c.354T= (p.Asn118=)
c.*60T= (n.*60T=)
c.*275T= (n.*275T=)
c.*370T= (n.*370T=)
c.204T= (p.Asn68=)
c.456T= (p.Asn152=)
c.276T= (p.Asn92=)
c.267T= (p.Asn89=)
c.360T= (p.Asn120=)
c.270T= (p.Asn90=)
c.315T= (p.Asn105=)
13g.101726763A>CCA388711325FGF14c.471T>G (p.Asn157Lys)
c.354T>G (p.Asn118Lys)
c.*60T>G (n.*60T>G)
c.*275T>G (n.*275T>G)
c.*370T>G (n.*370T>G)
c.204T>G (p.Asn68Lys)
c.456T>G (p.Asn152Lys)
c.276T>G (p.Asn92Lys)
c.267T>G (p.Asn89Lys)
c.360T>G (p.Asn120Lys)
c.270T>G (p.Asn90Lys)
c.315T>G (p.Asn105Lys)
13g.101726763A>GCA484767619FGF14c.471T>C (p.Asn157=)
c.354T>C (p.Asn118=)
c.*60T>C (n.*60T>C)
c.*275T>C (n.*275T>C)
c.*370T>C (n.*370T>C)
c.204T>C (p.Asn68=)
c.456T>C (p.Asn152=)
c.276T>C (p.Asn92=)
c.267T>C (p.Asn89=)
c.360T>C (p.Asn120=)
c.270T>C (p.Asn90=)
c.315T>C (p.Asn105=)
 dbSNP gnomAD v2 gnomAD v4
13g.101726763A>TCA388711326FGF14c.471T>A (p.Asn157Lys)
c.354T>A (p.Asn118Lys)
c.*60T>A (n.*60T>A)
c.*275T>A (n.*275T>A)
c.*370T>A (n.*370T>A)
c.204T>A (p.Asn68Lys)
c.456T>A (p.Asn152Lys)
c.276T>A (p.Asn92Lys)
c.267T>A (p.Asn89Lys)
c.360T>A (p.Asn120Lys)
c.270T>A (p.Asn90Lys)
c.315T>A (p.Asn105Lys)
 dbSNP gnomAD v2 COSMIC COSMIC
13g.101726764T>ACA388711327FGF14c.470A>T (p.Asn157Ile)
c.353A>T (p.Asn118Ile)
c.*59A>T (n.*59A>T)
c.*274A>T (n.*274A>T)
c.*369A>T (n.*369A>T)
c.203A>T (p.Asn68Ile)
c.455A>T (p.Asn152Ile)
c.275A>T (p.Asn92Ile)
c.266A>T (p.Asn89Ile)
c.359A>T (p.Asn120Ile)
c.269A>T (p.Asn90Ile)
c.314A>T (p.Asn105Ile)
13g.101726764T>CCA388711328FGF14c.470A>G (p.Asn157Ser)
c.353A>G (p.Asn118Ser)
c.*59A>G (n.*59A>G)
c.*274A>G (n.*274A>G)
c.*369A>G (n.*369A>G)
c.203A>G (p.Asn68Ser)
c.455A>G (p.Asn152Ser)
c.275A>G (p.Asn92Ser)
c.266A>G (p.Asn89Ser)
c.359A>G (p.Asn120Ser)
c.269A>G (p.Asn90Ser)
c.314A>G (p.Asn105Ser)
13g.101726764T>GCA388711329FGF14c.470A>C (p.Asn157Thr)
c.353A>C (p.Asn118Thr)
c.*59A>C (n.*59A>C)
c.*274A>C (n.*274A>C)
c.*369A>C (n.*369A>C)
c.203A>C (p.Asn68Thr)
c.455A>C (p.Asn152Thr)
c.275A>C (p.Asn92Thr)
c.266A>C (p.Asn89Thr)
c.359A>C (p.Asn120Thr)
c.269A>C (p.Asn90Thr)
c.314A>C (p.Asn105Thr)
 COSMIC COSMIC
13g.101726765T>ACA388711330FGF14c.469A>T (p.Asn157Tyr)
c.352A>T (p.Asn118Tyr)
c.*58A>T (n.*58A>T)
c.*273A>T (n.*273A>T)
c.*368A>T (n.*368A>T)
c.202A>T (p.Asn68Tyr)
c.454A>T (p.Asn152Tyr)
c.274A>T (p.Asn92Tyr)
c.265A>T (p.Asn89Tyr)
c.358A>T (p.Asn120Tyr)
c.268A>T (p.Asn90Tyr)
c.313A>T (p.Asn105Tyr)
13g.101726765T>CCA388711331FGF14c.469A>G (p.Asn157Asp)
c.352A>G (p.Asn118Asp)
c.*58A>G (n.*58A>G)
c.*273A>G (n.*273A>G)
c.*368A>G (n.*368A>G)
c.202A>G (p.Asn68Asp)
c.454A>G (p.Asn152Asp)
c.274A>G (p.Asn92Asp)
c.265A>G (p.Asn89Asp)
c.358A>G (p.Asn120Asp)
c.268A>G (p.Asn90Asp)
c.313A>G (p.Asn105Asp)
13g.101726765T>GCA388711332FGF14c.469A>C (p.Asn157His)
c.352A>C (p.Asn118His)
c.*58A>C (n.*58A>C)
c.*273A>C (n.*273A>C)
c.*368A>C (n.*368A>C)
c.202A>C (p.Asn68His)
c.454A>C (p.Asn152His)
c.274A>C (p.Asn92His)
c.265A>C (p.Asn89His)
c.358A>C (p.Asn120His)
c.268A>C (p.Asn90His)
c.313A>C (p.Asn105His)
13g.101726766T>ACA388711334FGF14c.468A>T (p.Glu156Asp)
c.351A>T (p.Glu117Asp)
c.*57A>T (n.*57A>T)
c.*272A>T (n.*272A>T)
c.*367A>T (n.*367A>T)
c.201A>T (p.Glu67Asp)
c.453A>T (p.Glu151Asp)
c.273A>T (p.Glu91Asp)
c.264A>T (p.Glu88Asp)
c.357A>T (p.Glu119Asp)
c.267A>T (p.Glu89Asp)
c.312A>T (p.Glu104Asp)
13g.101726766T>CCA484767620FGF14c.468A>G (p.Glu156=)
c.351A>G (p.Glu117=)
c.*57A>G (n.*57A>G)
c.*272A>G (n.*272A>G)
c.*367A>G (n.*367A>G)
c.201A>G (p.Glu67=)
c.453A>G (p.Glu151=)
c.273A>G (p.Glu91=)
c.264A>G (p.Glu88=)
c.357A>G (p.Glu119=)
c.267A>G (p.Glu89=)
c.312A>G (p.Glu104=)
13g.101726766T>GCA388711333FGF14c.468A>C (p.Glu156Asp)
c.351A>C (p.Glu117Asp)
c.*57A>C (n.*57A>C)
c.*272A>C (n.*272A>C)
c.*367A>C (n.*367A>C)
c.201A>C (p.Glu67Asp)
c.453A>C (p.Glu151Asp)
c.273A>C (p.Glu91Asp)
c.264A>C (p.Glu88Asp)
c.357A>C (p.Glu119Asp)
c.267A>C (p.Glu89Asp)
c.312A>C (p.Glu104Asp)
13g.101726767T>ACA388711335FGF14c.467A>T (p.Glu156Val)
c.350A>T (p.Glu117Val)
c.*56A>T (n.*56A>T)
c.*271A>T (n.*271A>T)
c.*366A>T (n.*366A>T)
c.200A>T (p.Glu67Val)
c.452A>T (p.Glu151Val)
c.272A>T (p.Glu91Val)
c.263A>T (p.Glu88Val)
c.356A>T (p.Glu119Val)
c.266A>T (p.Glu89Val)
c.311A>T (p.Glu104Val)
13g.101726767T>CCA388711337FGF14c.467A>G (p.Glu156Gly)
c.350A>G (p.Glu117Gly)
c.*56A>G (n.*56A>G)
c.*271A>G (n.*271A>G)
c.*366A>G (n.*366A>G)
c.200A>G (p.Glu67Gly)
c.452A>G (p.Glu151Gly)
c.272A>G (p.Glu91Gly)
c.263A>G (p.Glu88Gly)
c.356A>G (p.Glu119Gly)
c.266A>G (p.Glu89Gly)
c.311A>G (p.Glu104Gly)
13g.101726767T>GCA388711336FGF14c.467A>C (p.Glu156Ala)
c.350A>C (p.Glu117Ala)
c.*56A>C (n.*56A>C)
c.*271A>C (n.*271A>C)
c.*366A>C (n.*366A>C)
c.200A>C (p.Glu67Ala)
c.452A>C (p.Glu151Ala)
c.272A>C (p.Glu91Ala)
c.263A>C (p.Glu88Ala)
c.356A>C (p.Glu119Ala)
c.266A>C (p.Glu89Ala)
c.311A>C (p.Glu104Ala)
13g.101726768C>ACA388711338FGF14c.466G>T (p.Glu156Ter)
c.349G>T (p.Glu117Ter)
c.*55G>T (n.*55G>T)
c.*270G>T (n.*270G>T)
c.*365G>T (n.*365G>T)
c.199G>T (p.Glu67Ter)
c.451G>T (p.Glu151Ter)
c.271G>T (p.Glu91Ter)
c.262G>T (p.Glu88Ter)
c.355G>T (p.Glu119Ter)
c.265G>T (p.Glu89Ter)
c.310G>T (p.Glu104Ter)
13g.101726768C>GCA388711340FGF14c.466G>C (p.Glu156Gln)
c.349G>C (p.Glu117Gln)
c.*55G>C (n.*55G>C)
c.*270G>C (n.*270G>C)
c.*365G>C (n.*365G>C)
c.199G>C (p.Glu67Gln)
c.451G>C (p.Glu151Gln)
c.271G>C (p.Glu91Gln)
c.262G>C (p.Glu88Gln)
c.355G>C (p.Glu119Gln)
c.265G>C (p.Glu89Gln)
c.310G>C (p.Glu104Gln)
13g.101726768C>TCA388711339FGF14c.466G>A (p.Glu156Lys)
c.349G>A (p.Glu117Lys)
c.*55G>A (n.*55G>A)
c.*270G>A (n.*270G>A)
c.*365G>A (n.*365G>A)
c.199G>A (p.Glu67Lys)
c.451G>A (p.Glu151Lys)
c.271G>A (p.Glu91Lys)
c.262G>A (p.Glu88Lys)
c.355G>A (p.Glu119Lys)
c.265G>A (p.Glu89Lys)
c.310G>A (p.Glu104Lys)
 COSMIC COSMIC
13g.101726768_101726769insTACCCAAGCCATTGGAAGGTGCA2729145211FGF14c.465_466insCACCTTCCAATGGCTTGGGTA (p.Phe155_Glu156insHisLeuProMetAlaTrpVal)
c.348_349insCACCTTCCAATGGCTTGGGTA (p.Phe116_Glu117insHisLeuProMetAlaTrpVal)
c.*54_*55insCACCTTCCAATGGCTTGGGTA (n.*54_*55insCACCTTCCAATGGCTTGGGTA)
c.*269_*270insCACCTTCCAATGGCTTGGGTA (n.*269_*270insCACCTTCCAATGGCTTGGGTA)
c.*364_*365insCACCTTCCAATGGCTTGGGTA (n.*364_*365insCACCTTCCAATGGCTTGGGTA)
c.198_199insCACCTTCCAATGGCTTGGGTA (p.Phe66_Glu67insHisLeuProMetAlaTrpVal)
c.450_451insCACCTTCCAATGGCTTGGGTA (p.Phe150_Glu151insHisLeuProMetAlaTrpVal)
c.270_271insCACCTTCCAATGGCTTGGGTA (p.Phe90_Glu91insHisLeuProMetAlaTrpVal)
c.261_262insCACCTTCCAATGGCTTGGGTA (p.Phe87_Glu88insHisLeuProMetAlaTrpVal)
c.354_355insCACCTTCCAATGGCTTGGGTA (p.Phe118_Glu119insHisLeuProMetAlaTrpVal)
c.264_265insCACCTTCCAATGGCTTGGGTA (p.Phe88_Glu89insHisLeuProMetAlaTrpVal)
c.309_310insCACCTTCCAATGGCTTGGGTA (p.Phe103_Glu104insHisLeuProMetAlaTrpVal)
 dbSNP
13g.101726769A>CCA388711341FGF14c.465T>G (p.Phe155Leu)
c.348T>G (p.Phe116Leu)
c.*54T>G (n.*54T>G)
c.*269T>G (n.*269T>G)
c.*364T>G (n.*364T>G)
c.198T>G (p.Phe66Leu)
c.450T>G (p.Phe150Leu)
c.270T>G (p.Phe90Leu)
c.261T>G (p.Phe87Leu)
c.354T>G (p.Phe118Leu)
c.264T>G (p.Phe88Leu)
c.309T>G (p.Phe103Leu)
13g.101726769A>GCA484767621FGF14c.465T>C (p.Phe155=)
c.348T>C (p.Phe116=)
c.*54T>C (n.*54T>C)
c.*269T>C (n.*269T>C)
c.*364T>C (n.*364T>C)
c.198T>C (p.Phe66=)
c.450T>C (p.Phe150=)
c.270T>C (p.Phe90=)
c.261T>C (p.Phe87=)
c.354T>C (p.Phe118=)
c.264T>C (p.Phe88=)
c.309T>C (p.Phe103=)
13g.101726769A>TCA388711342FGF14c.465T>A (p.Phe155Leu)
c.348T>A (p.Phe116Leu)
c.*54T>A (n.*54T>A)
c.*269T>A (n.*269T>A)
c.*364T>A (n.*364T>A)
c.198T>A (p.Phe66Leu)
c.450T>A (p.Phe150Leu)
c.270T>A (p.Phe90Leu)
c.261T>A (p.Phe87Leu)
c.354T>A (p.Phe118Leu)
c.264T>A (p.Phe88Leu)
c.309T>A (p.Phe103Leu)
13g.101726770A=CA2114682875FGF14c.464T= (p.Phe155=)
c.347T= (p.Phe116=)
c.*53T= (n.*53T=)
c.*268T= (n.*268T=)
c.*363T= (n.*363T=)
c.197T= (p.Phe66=)
c.449T= (p.Phe150=)
c.269T= (p.Phe90=)
c.260T= (p.Phe87=)
c.353T= (p.Phe118=)
c.263T= (p.Phe88=)
c.308T= (p.Phe103=)
13g.101726770A>CCA388711343FGF14c.464T>G (p.Phe155Cys)
c.347T>G (p.Phe116Cys)
c.*53T>G (n.*53T>G)
c.*268T>G (n.*268T>G)
c.*363T>G (n.*363T>G)
c.197T>G (p.Phe66Cys)
c.449T>G (p.Phe150Cys)
c.269T>G (p.Phe90Cys)
c.260T>G (p.Phe87Cys)
c.353T>G (p.Phe118Cys)
c.263T>G (p.Phe88Cys)
c.308T>G (p.Phe103Cys)
13g.101726770A>GCA388711344FGF14c.464T>C (p.Phe155Ser)
c.347T>C (p.Phe116Ser)
c.*53T>C (n.*53T>C)
c.*268T>C (n.*268T>C)
c.*363T>C (n.*363T>C)
c.197T>C (p.Phe66Ser)
c.449T>C (p.Phe150Ser)
c.269T>C (p.Phe90Ser)
c.260T>C (p.Phe87Ser)
c.353T>C (p.Phe118Ser)
c.263T>C (p.Phe88Ser)
c.308T>C (p.Phe103Ser)
13g.101726770A>TCA388711345FGF14c.464T>A (p.Phe155Tyr)
c.347T>A (p.Phe116Tyr)
c.*53T>A (n.*53T>A)
c.*268T>A (n.*268T>A)
c.*363T>A (n.*363T>A)
c.197T>A (p.Phe66Tyr)
c.449T>A (p.Phe150Tyr)
c.269T>A (p.Phe90Tyr)
c.260T>A (p.Phe87Tyr)
c.353T>A (p.Phe118Tyr)
c.263T>A (p.Phe88Tyr)
c.308T>A (p.Phe103Tyr)
 dbSNP gnomAD v2 gnomAD v4
13g.101726771A=CA2114682878FGF14c.463T= (p.Phe155=)
c.346T= (p.Phe116=)
c.*52T= (n.*52T=)
c.*267T= (n.*267T=)
c.*362T= (n.*362T=)
c.196T= (p.Phe66=)
c.448T= (p.Phe150=)
c.268T= (p.Phe90=)
c.259T= (p.Phe87=)
c.352T= (p.Phe118=)
c.262T= (p.Phe88=)
c.307T= (p.Phe103=)
13g.101726771A>CCA388711348FGF14c.463T>G (p.Phe155Val)
c.346T>G (p.Phe116Val)
c.*52T>G (n.*52T>G)
c.*267T>G (n.*267T>G)
c.*362T>G (n.*362T>G)
c.196T>G (p.Phe66Val)
c.448T>G (p.Phe150Val)
c.268T>G (p.Phe90Val)
c.259T>G (p.Phe87Val)
c.352T>G (p.Phe118Val)
c.262T>G (p.Phe88Val)
c.307T>G (p.Phe103Val)
13g.101726771A>GCA388711347FGF14c.463T>C (p.Phe155Leu)
c.346T>C (p.Phe116Leu)
c.*52T>C (n.*52T>C)
c.*267T>C (n.*267T>C)
c.*362T>C (n.*362T>C)
c.196T>C (p.Phe66Leu)
c.448T>C (p.Phe150Leu)
c.268T>C (p.Phe90Leu)
c.259T>C (p.Phe87Leu)
c.352T>C (p.Phe118Leu)
c.262T>C (p.Phe88Leu)
c.307T>C (p.Phe103Leu)
 dbSNP
13g.101726771A>TCA388711346FGF14c.463T>A (p.Phe155Ile)
c.346T>A (p.Phe116Ile)
c.*52T>A (n.*52T>A)
c.*267T>A (n.*267T>A)
c.*362T>A (n.*362T>A)
c.196T>A (p.Phe66Ile)
c.448T>A (p.Phe150Ile)
c.268T>A (p.Phe90Ile)
c.259T>A (p.Phe87Ile)
c.352T>A (p.Phe118Ile)
c.262T>A (p.Phe88Ile)
c.307T>A (p.Phe103Ile)
13g.101726771_101726772insTTGCA2623591693FGF14c.462_463insCAA (p.Val154_Phe155insGln)
c.345_346insCAA (p.Val115_Phe116insGln)
c.*51_*52insCAA (n.*51_*52insCAA)
c.*266_*267insCAA (n.*266_*267insCAA)
c.*361_*362insCAA (n.*361_*362insCAA)
c.195_196insCAA (p.Val65_Phe66insGln)
c.447_448insCAA (p.Val149_Phe150insGln)
c.267_268insCAA (p.Val89_Phe90insGln)
c.258_259insCAA (p.Val86_Phe87insGln)
c.351_352insCAA (p.Val117_Phe118insGln)
c.261_262insCAA (p.Val87_Phe88insGln)
c.306_307insCAA (p.Val102_Phe103insGln)
 gnomAD v4
13g.101726771_101726772insTTGATAGGTCTCA2741349129FGF14c.462_463insAGACCTATCAA (p.Phe155ArgfsTer10)
c.345_346insAGACCTATCAA (p.Phe116ArgfsTer10)
c.*51_*52insAGACCTATCAA (n.*51_*52insAGACCTATCAA)
c.*266_*267insAGACCTATCAA (n.*266_*267insAGACCTATCAA)
c.*361_*362insAGACCTATCAA (n.*361_*362insAGACCTATCAA)
c.195_196insAGACCTATCAA (p.Phe66ArgfsTer10)
c.447_448insAGACCTATCAA (p.Phe150ArgfsTer10)
c.267_268insAGACCTATCAA (p.Phe90ArgfsTer10)
c.258_259insAGACCTATCAA (p.Phe87ArgfsTer10)
c.351_352insAGACCTATCAA (p.Phe118ArgfsTer10)
c.261_262insAGACCTATCAA (p.Phe88ArgfsTer10)
c.306_307insAGACCTATCAA (p.Phe103ArgfsTer10)
13g.101726772A=CA2114682880FGF14c.462T= (p.Val154=)
c.345T= (p.Val115=)
c.*51T= (n.*51T=)
c.*266T= (n.*266T=)
c.*361T= (n.*361T=)
c.195T= (p.Val65=)
c.447T= (p.Val149=)
c.267T= (p.Val89=)
c.258T= (p.Val86=)
c.351T= (p.Val117=)
c.261T= (p.Val87=)
c.306T= (p.Val102=)
13g.101726772A>CCA484767622FGF14c.462T>G (p.Val154=)
c.345T>G (p.Val115=)
c.*51T>G (n.*51T>G)
c.*266T>G (n.*266T>G)
c.*361T>G (n.*361T>G)
c.195T>G (p.Val65=)
c.447T>G (p.Val149=)
c.267T>G (p.Val89=)
c.258T>G (p.Val86=)
c.351T>G (p.Val117=)
c.261T>G (p.Val87=)
c.306T>G (p.Val102=)
 dbSNP gnomAD v3 gnomAD v4
13g.101726772A>GCA484767623FGF14c.462T>C (p.Val154=)
c.345T>C (p.Val115=)
c.*51T>C (n.*51T>C)
c.*266T>C (n.*266T>C)
c.*361T>C (n.*361T>C)
c.195T>C (p.Val65=)
c.447T>C (p.Val149=)
c.267T>C (p.Val89=)
c.258T>C (p.Val86=)
c.351T>C (p.Val117=)
c.261T>C (p.Val87=)
c.306T>C (p.Val102=)
13g.101726772A>TCA484767624FGF14c.462T>A (p.Val154=)
c.345T>A (p.Val115=)
c.*51T>A (n.*51T>A)
c.*266T>A (n.*266T>A)
c.*361T>A (n.*361T>A)
c.195T>A (p.Val65=)
c.447T>A (p.Val149=)
c.267T>A (p.Val89=)
c.258T>A (p.Val86=)
c.351T>A (p.Val117=)
c.261T>A (p.Val87=)
c.306T>A (p.Val102=)
13g.101726773A>CCA388711349FGF14c.461T>G (p.Val154Gly)
c.344T>G (p.Val115Gly)
c.*50T>G (n.*50T>G)
c.*265T>G (n.*265T>G)
c.*360T>G (n.*360T>G)
c.194T>G (p.Val65Gly)
c.446T>G (p.Val149Gly)
c.266T>G (p.Val89Gly)
c.257T>G (p.Val86Gly)
c.350T>G (p.Val117Gly)
c.260T>G (p.Val87Gly)
c.305T>G (p.Val102Gly)
13g.101726773A>GCA388711350FGF14c.461T>C (p.Val154Ala)
c.344T>C (p.Val115Ala)
c.*50T>C (n.*50T>C)
c.*265T>C (n.*265T>C)
c.*360T>C (n.*360T>C)
c.194T>C (p.Val65Ala)
c.446T>C (p.Val149Ala)
c.266T>C (p.Val89Ala)
c.257T>C (p.Val86Ala)
c.350T>C (p.Val117Ala)
c.260T>C (p.Val87Ala)
c.305T>C (p.Val102Ala)
13g.101726773A>TCA388711351FGF14c.461T>A (p.Val154Asp)
c.344T>A (p.Val115Asp)
c.*50T>A (n.*50T>A)
c.*265T>A (n.*265T>A)
c.*360T>A (n.*360T>A)
c.194T>A (p.Val65Asp)
c.446T>A (p.Val149Asp)
c.266T>A (p.Val89Asp)
c.257T>A (p.Val86Asp)
c.350T>A (p.Val117Asp)
c.260T>A (p.Val87Asp)
c.305T>A (p.Val102Asp)
13g.101726774C>ACA388711352FGF14c.460G>T (p.Val154Phe)
c.343G>T (p.Val115Phe)
c.*49G>T (n.*49G>T)
c.*264G>T (n.*264G>T)
c.*359G>T (n.*359G>T)
c.193G>T (p.Val65Phe)
c.445G>T (p.Val149Phe)
c.265G>T (p.Val89Phe)
c.256G>T (p.Val86Phe)
c.349G>T (p.Val117Phe)
c.259G>T (p.Val87Phe)
c.304G>T (p.Val102Phe)
13g.101726774C>GCA388711353FGF14c.460G>C (p.Val154Leu)
c.343G>C (p.Val115Leu)
c.*49G>C (n.*49G>C)
c.*264G>C (n.*264G>C)
c.*359G>C (n.*359G>C)
c.193G>C (p.Val65Leu)
c.445G>C (p.Val149Leu)
c.265G>C (p.Val89Leu)
c.256G>C (p.Val86Leu)
c.349G>C (p.Val117Leu)
c.259G>C (p.Val87Leu)
c.304G>C (p.Val102Leu)
13g.101726774C>TCA388711354FGF14c.460G>A (p.Val154Ile)
c.343G>A (p.Val115Ile)
c.*49G>A (n.*49G>A)
c.*264G>A (n.*264G>A)
c.*359G>A (n.*359G>A)
c.193G>A (p.Val65Ile)
c.445G>A (p.Val149Ile)
c.265G>A (p.Val89Ile)
c.256G>A (p.Val86Ile)
c.349G>A (p.Val117Ile)
c.259G>A (p.Val87Ile)
c.304G>A (p.Val102Ile)
13g.101726775A>CCA484767625FGF14c.459T>G (p.Ser153=)
c.342T>G (p.Ser114=)
c.*48T>G (n.*48T>G)
c.*263T>G (n.*263T>G)
c.*358T>G (n.*358T>G)
c.192T>G (p.Ser64=)
c.444T>G (p.Ser148=)
c.264T>G (p.Ser88=)
c.255T>G (p.Ser85=)
c.348T>G (p.Ser116=)
c.258T>G (p.Ser86=)
c.303T>G (p.Ser101=)
13g.101726775A>GCA484767626FGF14c.459T>C (p.Ser153=)
c.342T>C (p.Ser114=)
c.*48T>C (n.*48T>C)
c.*263T>C (n.*263T>C)
c.*358T>C (n.*358T>C)
c.192T>C (p.Ser64=)
c.444T>C (p.Ser148=)
c.264T>C (p.Ser88=)
c.255T>C (p.Ser85=)
c.348T>C (p.Ser116=)
c.258T>C (p.Ser86=)
c.303T>C (p.Ser101=)
 gnomAD v4
13g.101726775A>TCA484767627FGF14c.459T>A (p.Ser153=)
c.342T>A (p.Ser114=)
c.*48T>A (n.*48T>A)
c.*263T>A (n.*263T>A)
c.*358T>A (n.*358T>A)
c.192T>A (p.Ser64=)
c.444T>A (p.Ser148=)
c.264T>A (p.Ser88=)
c.255T>A (p.Ser85=)
c.348T>A (p.Ser116=)
c.258T>A (p.Ser86=)
c.303T>A (p.Ser101=)
13g.101726776G>ACA388711355FGF14c.458C>T (p.Ser153Phe)
c.341C>T (p.Ser114Phe)
c.*47C>T (n.*47C>T)
c.*262C>T (n.*262C>T)
c.*357C>T (n.*357C>T)
c.191C>T (p.Ser64Phe)
c.443C>T (p.Ser148Phe)
c.263C>T (p.Ser88Phe)
c.254C>T (p.Ser85Phe)
c.347C>T (p.Ser116Phe)
c.257C>T (p.Ser86Phe)
c.302C>T (p.Ser101Phe)
13g.101726776G>CCA388711357FGF14c.458C>G (p.Ser153Cys)
c.341C>G (p.Ser114Cys)
c.*47C>G (n.*47C>G)
c.*262C>G (n.*262C>G)
c.*357C>G (n.*357C>G)
c.191C>G (p.Ser64Cys)
c.443C>G (p.Ser148Cys)
c.263C>G (p.Ser88Cys)
c.254C>G (p.Ser85Cys)
c.347C>G (p.Ser116Cys)
c.257C>G (p.Ser86Cys)
c.302C>G (p.Ser101Cys)
13g.101726776G>TCA388711356FGF14c.458C>A (p.Ser153Tyr)
c.341C>A (p.Ser114Tyr)
c.*47C>A (n.*47C>A)
c.*262C>A (n.*262C>A)
c.*357C>A (n.*357C>A)
c.191C>A (p.Ser64Tyr)
c.443C>A (p.Ser148Tyr)
c.263C>A (p.Ser88Tyr)
c.254C>A (p.Ser85Tyr)
c.347C>A (p.Ser116Tyr)
c.257C>A (p.Ser86Tyr)
c.302C>A (p.Ser101Tyr)
13g.101726777A>CCA388711358FGF14c.457T>G (p.Ser153Ala)
c.340T>G (p.Ser114Ala)
c.*46T>G (n.*46T>G)
c.*261T>G (n.*261T>G)
c.*356T>G (n.*356T>G)
c.190T>G (p.Ser64Ala)
c.442T>G (p.Ser148Ala)
c.262T>G (p.Ser88Ala)
c.253T>G (p.Ser85Ala)
c.346T>G (p.Ser116Ala)
c.256T>G (p.Ser86Ala)
c.301T>G (p.Ser101Ala)
13g.101726777A>GCA388711359FGF14c.457T>C (p.Ser153Pro)
c.340T>C (p.Ser114Pro)
c.*46T>C (n.*46T>C)
c.*261T>C (n.*261T>C)
c.*356T>C (n.*356T>C)
c.190T>C (p.Ser64Pro)
c.442T>C (p.Ser148Pro)
c.262T>C (p.Ser88Pro)
c.253T>C (p.Ser85Pro)
c.346T>C (p.Ser116Pro)
c.256T>C (p.Ser86Pro)
c.301T>C (p.Ser101Pro)
13g.101726777A>TCA388711360FGF14c.457T>A (p.Ser153Thr)
c.340T>A (p.Ser114Thr)
c.*46T>A (n.*46T>A)
c.*261T>A (n.*261T>A)
c.*356T>A (n.*356T>A)
c.190T>A (p.Ser64Thr)
c.442T>A (p.Ser148Thr)
c.262T>A (p.Ser88Thr)
c.253T>A (p.Ser85Thr)
c.346T>A (p.Ser116Thr)
c.256T>A (p.Ser86Thr)
c.301T>A (p.Ser101Thr)
 gnomAD v4
13g.101726778T>ACA388711361FGF14c.456A>T (p.Glu152Asp)
c.339A>T (p.Glu113Asp)
c.*45A>T (n.*45A>T)
c.*260A>T (n.*260A>T)
c.*355A>T (n.*355A>T)
c.189A>T (p.Glu63Asp)
c.441A>T (p.Glu147Asp)
c.261A>T (p.Glu87Asp)
c.252A>T (p.Glu84Asp)
c.345A>T (p.Glu115Asp)
c.255A>T (p.Glu85Asp)
c.300A>T (p.Glu100Asp)
13g.101726778T>CCA484767628FGF14c.456A>G (p.Glu152=)
c.339A>G (p.Glu113=)
c.*45A>G (n.*45A>G)
c.*260A>G (n.*260A>G)
c.*355A>G (n.*355A>G)
c.189A>G (p.Glu63=)
c.441A>G (p.Glu147=)
c.261A>G (p.Glu87=)
c.252A>G (p.Glu84=)
c.345A>G (p.Glu115=)
c.255A>G (p.Glu85=)
c.300A>G (p.Glu100=)
13g.101726778T>GCA388711362FGF14c.456A>C (p.Glu152Asp)
c.339A>C (p.Glu113Asp)
c.*45A>C (n.*45A>C)
c.*260A>C (n.*260A>C)
c.*355A>C (n.*355A>C)
c.189A>C (p.Glu63Asp)
c.441A>C (p.Glu147Asp)
c.261A>C (p.Glu87Asp)
c.252A>C (p.Glu84Asp)
c.345A>C (p.Glu115Asp)
c.255A>C (p.Glu85Asp)
c.300A>C (p.Glu100Asp)
13g.101726779T>ACA388711363FGF14c.455A>T (p.Glu152Val)
c.338A>T (p.Glu113Val)
c.*44A>T (n.*44A>T)
c.*259A>T (n.*259A>T)
c.*354A>T (n.*354A>T)
c.188A>T (p.Glu63Val)
c.440A>T (p.Glu147Val)
c.260A>T (p.Glu87Val)
c.251A>T (p.Glu84Val)
c.344A>T (p.Glu115Val)
c.254A>T (p.Glu85Val)
c.299A>T (p.Glu100Val)
13g.101726779T>CCA388711364FGF14c.455A>G (p.Glu152Gly)
c.338A>G (p.Glu113Gly)
c.*44A>G (n.*44A>G)
c.*259A>G (n.*259A>G)
c.*354A>G (n.*354A>G)
c.188A>G (p.Glu63Gly)
c.440A>G (p.Glu147Gly)
c.260A>G (p.Glu87Gly)
c.251A>G (p.Glu84Gly)
c.344A>G (p.Glu115Gly)
c.254A>G (p.Glu85Gly)
c.299A>G (p.Glu100Gly)
13g.101726779T>GCA388711365FGF14c.455A>C (p.Glu152Ala)
c.338A>C (p.Glu113Ala)
c.*44A>C (n.*44A>C)
c.*259A>C (n.*259A>C)
c.*354A>C (n.*354A>C)
c.188A>C (p.Glu63Ala)
c.440A>C (p.Glu147Ala)
c.260A>C (p.Glu87Ala)
c.251A>C (p.Glu84Ala)
c.344A>C (p.Glu115Ala)
c.254A>C (p.Glu85Ala)
c.299A>C (p.Glu100Ala)
13g.101726780C>ACA388711366FGF14c.454G>T (p.Glu152Ter)
c.337G>T (p.Glu113Ter)
c.*43G>T (n.*43G>T)
c.*258G>T (n.*258G>T)
c.*353G>T (n.*353G>T)
c.187G>T (p.Glu63Ter)
c.439G>T (p.Glu147Ter)
c.259G>T (p.Glu87Ter)
c.250G>T (p.Glu84Ter)
c.343G>T (p.Glu115Ter)
c.253G>T (p.Glu85Ter)
c.298G>T (p.Glu100Ter)
 ClinVar dbSNP
13g.101726780C=CA2114682882FGF14c.454G= (p.Glu152=)
c.337G= (p.Glu113=)
c.*43G= (n.*43G=)
c.*258G= (n.*258G=)
c.*353G= (n.*353G=)
c.187G= (p.Glu63=)
c.439G= (p.Glu147=)
c.259G= (p.Glu87=)
c.250G= (p.Glu84=)
c.343G= (p.Glu115=)
c.253G= (p.Glu85=)
c.298G= (p.Glu100=)
13g.101726780C>GCA388711367FGF14c.454G>C (p.Glu152Gln)
c.337G>C (p.Glu113Gln)
c.*43G>C (n.*43G>C)
c.*258G>C (n.*258G>C)
c.*353G>C (n.*353G>C)
c.187G>C (p.Glu63Gln)
c.439G>C (p.Glu147Gln)
c.259G>C (p.Glu87Gln)
c.250G>C (p.Glu84Gln)
c.343G>C (p.Glu115Gln)
c.253G>C (p.Glu85Gln)
c.298G>C (p.Glu100Gln)
13g.101726780C>TCA256120581FGF14c.454G>A (p.Glu152Lys)
c.337G>A (p.Glu113Lys)
c.*43G>A (n.*43G>A)
c.*258G>A (n.*258G>A)
c.*353G>A (n.*353G>A)
c.187G>A (p.Glu63Lys)
c.439G>A (p.Glu147Lys)
c.259G>A (p.Glu87Lys)
c.250G>A (p.Glu84Lys)
c.343G>A (p.Glu115Lys)
c.253G>A (p.Glu85Lys)
c.298G>A (p.Glu100Lys)
 dbSNP COSMIC COSMIC
13g.101726781T>ACA388711368FGF14c.453A>T (p.Lys151Asn)
c.336A>T (p.Lys112Asn)
c.*42A>T (n.*42A>T)
c.*257A>T (n.*257A>T)
c.*352A>T (n.*352A>T)
c.186A>T (p.Lys62Asn)
c.438A>T (p.Lys146Asn)
c.258A>T (p.Lys86Asn)
c.249A>T (p.Lys83Asn)
c.342A>T (p.Lys114Asn)
c.252A>T (p.Lys84Asn)
c.297A>T (p.Lys99Asn)
13g.101726781T>CCA484767629FGF14c.453A>G (p.Lys151=)
c.336A>G (p.Lys112=)
c.*42A>G (n.*42A>G)
c.*257A>G (n.*257A>G)
c.*352A>G (n.*352A>G)
c.186A>G (p.Lys62=)
c.438A>G (p.Lys146=)
c.258A>G (p.Lys86=)
c.249A>G (p.Lys83=)
c.342A>G (p.Lys114=)
c.252A>G (p.Lys84=)
c.297A>G (p.Lys99=)
13g.101726781T>GCA388711369FGF14c.453A>C (p.Lys151Asn)
c.336A>C (p.Lys112Asn)
c.*42A>C (n.*42A>C)
c.*257A>C (n.*257A>C)
c.*352A>C (n.*352A>C)
c.186A>C (p.Lys62Asn)
c.438A>C (p.Lys146Asn)
c.258A>C (p.Lys86Asn)
c.249A>C (p.Lys83Asn)
c.342A>C (p.Lys114Asn)
c.252A>C (p.Lys84Asn)
c.297A>C (p.Lys99Asn)
13g.101726782T>ACA388711370FGF14c.452A>T (p.Lys151Ile)
c.335A>T (p.Lys112Ile)
c.*41A>T (n.*41A>T)
c.*256A>T (n.*256A>T)
c.*351A>T (n.*351A>T)
c.185A>T (p.Lys62Ile)
c.437A>T (p.Lys146Ile)
c.257A>T (p.Lys86Ile)
c.248A>T (p.Lys83Ile)
c.341A>T (p.Lys114Ile)
c.251A>T (p.Lys84Ile)
c.296A>T (p.Lys99Ile)
13g.101726782T>CCA388711371FGF14c.452A>G (p.Lys151Arg)
c.335A>G (p.Lys112Arg)
c.*41A>G (n.*41A>G)
c.*256A>G (n.*256A>G)
c.*351A>G (n.*351A>G)
c.185A>G (p.Lys62Arg)
c.437A>G (p.Lys146Arg)
c.257A>G (p.Lys86Arg)
c.248A>G (p.Lys83Arg)
c.341A>G (p.Lys114Arg)
c.251A>G (p.Lys84Arg)
c.296A>G (p.Lys99Arg)
13g.101726782T>GCA388711372FGF14c.452A>C (p.Lys151Thr)
c.335A>C (p.Lys112Thr)
c.*41A>C (n.*41A>C)
c.*256A>C (n.*256A>C)
c.*351A>C (n.*351A>C)
c.185A>C (p.Lys62Thr)
c.437A>C (p.Lys146Thr)
c.257A>C (p.Lys86Thr)
c.248A>C (p.Lys83Thr)
c.341A>C (p.Lys114Thr)
c.251A>C (p.Lys84Thr)
c.296A>C (p.Lys99Thr)
13g.101726783T>ACA388711373FGF14c.451A>T (p.Lys151Ter)
c.334A>T (p.Lys112Ter)
c.*40A>T (n.*40A>T)
c.*255A>T (n.*255A>T)
c.*350A>T (n.*350A>T)
c.184A>T (p.Lys62Ter)
c.436A>T (p.Lys146Ter)
c.256A>T (p.Lys86Ter)
c.247A>T (p.Lys83Ter)
c.340A>T (p.Lys114Ter)
c.250A>T (p.Lys84Ter)
c.295A>T (p.Lys99Ter)
13g.101726783T>CCA388711374FGF14c.451A>G (p.Lys151Glu)
c.334A>G (p.Lys112Glu)
c.*40A>G (n.*40A>G)
c.*255A>G (n.*255A>G)
c.*350A>G (n.*350A>G)
c.184A>G (p.Lys62Glu)
c.436A>G (p.Lys146Glu)
c.256A>G (p.Lys86Glu)
c.247A>G (p.Lys83Glu)
c.340A>G (p.Lys114Glu)
c.250A>G (p.Lys84Glu)
c.295A>G (p.Lys99Glu)
13g.101726783T>GCA388711375FGF14c.451A>C (p.Lys151Gln)
c.334A>C (p.Lys112Gln)
c.*40A>C (n.*40A>C)
c.*255A>C (n.*255A>C)
c.*350A>C (n.*350A>C)
c.184A>C (p.Lys62Gln)
c.436A>C (p.Lys146Gln)
c.256A>C (p.Lys86Gln)
c.247A>C (p.Lys83Gln)
c.340A>C (p.Lys114Gln)
c.250A>C (p.Lys84Gln)
c.295A>C (p.Lys99Gln)
13g.101726784A=CA2114682885FGF14c.450T= (p.Phe150=)
c.333T= (p.Phe111=)
c.*39T= (n.*39T=)
c.*254T= (n.*254T=)
c.*349T= (n.*349T=)
c.183T= (p.Phe61=)
c.435T= (p.Phe145=)
c.255T= (p.Phe85=)
c.246T= (p.Phe82=)
c.339T= (p.Phe113=)
c.249T= (p.Phe83=)
c.294T= (p.Phe98=)
13g.101726784A>CCA388711376FGF14c.450T>G (p.Phe150Leu)
c.333T>G (p.Phe111Leu)
c.*39T>G (n.*39T>G)
c.*254T>G (n.*254T>G)
c.*349T>G (n.*349T>G)
c.183T>G (p.Phe61Leu)
c.435T>G (p.Phe145Leu)
c.255T>G (p.Phe85Leu)
c.246T>G (p.Phe82Leu)
c.339T>G (p.Phe113Leu)
c.249T>G (p.Phe83Leu)
c.294T>G (p.Phe98Leu)
13g.101726784A>GCA7037155FGF14c.450T>C (p.Phe150=)
c.333T>C (p.Phe111=)
c.*39T>C (n.*39T>C)
c.*254T>C (n.*254T>C)
c.*349T>C (n.*349T>C)
c.183T>C (p.Phe61=)
c.435T>C (p.Phe145=)
c.255T>C (p.Phe85=)
c.246T>C (p.Phe82=)
c.339T>C (p.Phe113=)
c.249T>C (p.Phe83=)
c.294T>C (p.Phe98=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101726784A>TCA388711377FGF14c.450T>A (p.Phe150Leu)
c.333T>A (p.Phe111Leu)
c.*39T>A (n.*39T>A)
c.*254T>A (n.*254T>A)
c.*349T>A (n.*349T>A)
c.183T>A (p.Phe61Leu)
c.435T>A (p.Phe145Leu)
c.255T>A (p.Phe85Leu)
c.246T>A (p.Phe82Leu)
c.339T>A (p.Phe113Leu)
c.249T>A (p.Phe83Leu)
c.294T>A (p.Phe98Leu)
13g.101726785A=CA2114682891FGF14c.449T= (p.Phe150=)
c.332T= (p.Phe111=)
c.*38T= (n.*38T=)
c.*253T= (n.*253T=)
c.*348T= (n.*348T=)
c.182T= (p.Phe61=)
c.434T= (p.Phe145=)
c.254T= (p.Phe85=)
c.245T= (p.Phe82=)
c.338T= (p.Phe113=)
c.248T= (p.Phe83=)
c.293T= (p.Phe98=)
13g.101726785A>CCA388711378FGF14c.449T>G (p.Phe150Cys)
c.332T>G (p.Phe111Cys)
c.*38T>G (n.*38T>G)
c.*253T>G (n.*253T>G)
c.*348T>G (n.*348T>G)
c.182T>G (p.Phe61Cys)
c.434T>G (p.Phe145Cys)
c.254T>G (p.Phe85Cys)
c.245T>G (p.Phe82Cys)
c.338T>G (p.Phe113Cys)
c.248T>G (p.Phe83Cys)
c.293T>G (p.Phe98Cys)
13g.101726785A>GCA254318FGF14c.449T>C (p.Phe150Ser)
c.332T>C (p.Phe111Ser)
c.*38T>C (n.*38T>C)
c.*253T>C (n.*253T>C)
c.*348T>C (n.*348T>C)
c.182T>C (p.Phe61Ser)
c.434T>C (p.Phe145Ser)
c.254T>C (p.Phe85Ser)
c.245T>C (p.Phe82Ser)
c.338T>C (p.Phe113Ser)
c.248T>C (p.Phe83Ser)
c.293T>C (p.Phe98Ser)
 ClinVar dbSNP
13g.101726785A>TCA388711379FGF14c.449T>A (p.Phe150Tyr)
c.332T>A (p.Phe111Tyr)
c.*38T>A (n.*38T>A)
c.*253T>A (n.*253T>A)
c.*348T>A (n.*348T>A)
c.182T>A (p.Phe61Tyr)
c.434T>A (p.Phe145Tyr)
c.254T>A (p.Phe85Tyr)
c.245T>A (p.Phe82Tyr)
c.338T>A (p.Phe113Tyr)
c.248T>A (p.Phe83Tyr)
c.293T>A (p.Phe98Tyr)
13g.101726786A>CCA388711381FGF14c.448T>G (p.Phe150Val)
c.331T>G (p.Phe111Val)
c.*37T>G (n.*37T>G)
c.*252T>G (n.*252T>G)
c.*347T>G (n.*347T>G)
c.181T>G (p.Phe61Val)
c.433T>G (p.Phe145Val)
c.253T>G (p.Phe85Val)
c.244T>G (p.Phe82Val)
c.337T>G (p.Phe113Val)
c.247T>G (p.Phe83Val)
c.292T>G (p.Phe98Val)
13g.101726786A>GCA388711382FGF14c.448T>C (p.Phe150Leu)
c.331T>C (p.Phe111Leu)
c.*37T>C (n.*37T>C)
c.*252T>C (n.*252T>C)
c.*347T>C (n.*347T>C)
c.181T>C (p.Phe61Leu)
c.433T>C (p.Phe145Leu)
c.253T>C (p.Phe85Leu)
c.244T>C (p.Phe82Leu)
c.337T>C (p.Phe113Leu)
c.247T>C (p.Phe83Leu)
c.292T>C (p.Phe98Leu)
13g.101726786A>TCA388711380FGF14c.448T>A (p.Phe150Ile)
c.331T>A (p.Phe111Ile)
c.*37T>A (n.*37T>A)
c.*252T>A (n.*252T>A)
c.*347T>A (n.*347T>A)
c.181T>A (p.Phe61Ile)
c.433T>A (p.Phe145Ile)
c.253T>A (p.Phe85Ile)
c.244T>A (p.Phe82Ile)
c.337T>A (p.Phe113Ile)
c.247T>A (p.Phe83Ile)
c.292T>A (p.Phe98Ile)
13g.101726787C>ACA388711383FGF14c.447G>T (p.Lys149Asn)
c.330G>T (p.Lys110Asn)
c.*36G>T (n.*36G>T)
c.*251G>T (n.*251G>T)
c.*346G>T (n.*346G>T)
c.180G>T (p.Lys60Asn)
c.432G>T (p.Lys144Asn)
c.252G>T (p.Lys84Asn)
c.243G>T (p.Lys81Asn)
c.336G>T (p.Lys112Asn)
c.246G>T (p.Lys82Asn)
c.291G>T (p.Lys97Asn)
13g.101726787C>GCA388711384FGF14c.447G>C (p.Lys149Asn)
c.330G>C (p.Lys110Asn)
c.*36G>C (n.*36G>C)
c.*251G>C (n.*251G>C)
c.*346G>C (n.*346G>C)
c.180G>C (p.Lys60Asn)
c.432G>C (p.Lys144Asn)
c.252G>C (p.Lys84Asn)
c.243G>C (p.Lys81Asn)
c.336G>C (p.Lys112Asn)
c.246G>C (p.Lys82Asn)
c.291G>C (p.Lys97Asn)
13g.101726787C>TCA484767630FGF14c.447G>A (p.Lys149=)
c.330G>A (p.Lys110=)
c.*36G>A (n.*36G>A)
c.*251G>A (n.*251G>A)
c.*346G>A (n.*346G>A)
c.180G>A (p.Lys60=)
c.432G>A (p.Lys144=)
c.252G>A (p.Lys84=)
c.243G>A (p.Lys81=)
c.336G>A (p.Lys112=)
c.246G>A (p.Lys82=)
c.291G>A (p.Lys97=)
13g.101726788T>ACA388711385FGF14c.446A>T (p.Lys149Met)
c.329A>T (p.Lys110Met)
c.*35A>T (n.*35A>T)
c.*250A>T (n.*250A>T)
c.*345A>T (n.*345A>T)
c.179A>T (p.Lys60Met)
c.431A>T (p.Lys144Met)
c.251A>T (p.Lys84Met)
c.242A>T (p.Lys81Met)
c.335A>T (p.Lys112Met)
c.245A>T (p.Lys82Met)
c.290A>T (p.Lys97Met)
13g.101726788T>CCA388711386FGF14c.446A>G (p.Lys149Arg)
c.329A>G (p.Lys110Arg)
c.*35A>G (n.*35A>G)
c.*250A>G (n.*250A>G)
c.*345A>G (n.*345A>G)
c.179A>G (p.Lys60Arg)
c.431A>G (p.Lys144Arg)
c.251A>G (p.Lys84Arg)
c.242A>G (p.Lys81Arg)
c.335A>G (p.Lys112Arg)
c.245A>G (p.Lys82Arg)
c.290A>G (p.Lys97Arg)
13g.101726788T>GCA388711387FGF14c.446A>C (p.Lys149Thr)
c.329A>C (p.Lys110Thr)
c.*35A>C (n.*35A>C)
c.*250A>C (n.*250A>C)
c.*345A>C (n.*345A>C)
c.179A>C (p.Lys60Thr)
c.431A>C (p.Lys144Thr)
c.251A>C (p.Lys84Thr)
c.242A>C (p.Lys81Thr)
c.335A>C (p.Lys112Thr)
c.245A>C (p.Lys82Thr)
c.290A>C (p.Lys97Thr)
13g.101726789T>ACA388711390FGF14c.445A>T (p.Lys149Ter)
c.328A>T (p.Lys110Ter)
c.*34A>T (n.*34A>T)
c.*249A>T (n.*249A>T)
c.*344A>T (n.*344A>T)
c.178A>T (p.Lys60Ter)
c.430A>T (p.Lys144Ter)
c.250A>T (p.Lys84Ter)
c.241A>T (p.Lys81Ter)
c.334A>T (p.Lys112Ter)
c.244A>T (p.Lys82Ter)
c.289A>T (p.Lys97Ter)
13g.101726789T>CCA388711388FGF14c.445A>G (p.Lys149Glu)
c.328A>G (p.Lys110Glu)
c.*34A>G (n.*34A>G)
c.*249A>G (n.*249A>G)
c.*344A>G (n.*344A>G)
c.178A>G (p.Lys60Glu)
c.430A>G (p.Lys144Glu)
c.250A>G (p.Lys84Glu)
c.241A>G (p.Lys81Glu)
c.334A>G (p.Lys112Glu)
c.244A>G (p.Lys82Glu)
c.289A>G (p.Lys97Glu)
13g.101726789T>GCA388711389FGF14c.445A>C (p.Lys149Gln)
c.328A>C (p.Lys110Gln)
c.*34A>C (n.*34A>C)
c.*249A>C (n.*249A>C)
c.*344A>C (n.*344A>C)
c.178A>C (p.Lys60Gln)
c.430A>C (p.Lys144Gln)
c.250A>C (p.Lys84Gln)
c.241A>C (p.Lys81Gln)
c.334A>C (p.Lys112Gln)
c.244A>C (p.Lys82Gln)
c.289A>C (p.Lys97Gln)
13g.101726790G>ACA484767631FGF14c.444C>T (p.Cys148=)
c.327C>T (p.Cys109=)
c.*33C>T (n.*33C>T)
c.*248C>T (n.*248C>T)
c.*343C>T (n.*343C>T)
c.177C>T (p.Cys59=)
c.429C>T (p.Cys143=)
c.249C>T (p.Cys83=)
c.240C>T (p.Cys80=)
c.333C>T (p.Cys111=)
c.243C>T (p.Cys81=)
c.288C>T (p.Cys96=)
 dbSNP gnomAD v3 gnomAD v4
13g.101726790G>CCA388711391FGF14c.444C>G (p.Cys148Trp)
c.327C>G (p.Cys109Trp)
c.*33C>G (n.*33C>G)
c.*248C>G (n.*248C>G)
c.*343C>G (n.*343C>G)
c.177C>G (p.Cys59Trp)
c.429C>G (p.Cys143Trp)
c.249C>G (p.Cys83Trp)
c.240C>G (p.Cys80Trp)
c.333C>G (p.Cys111Trp)
c.243C>G (p.Cys81Trp)
c.288C>G (p.Cys96Trp)
13g.101726790G=CA2114682902FGF14c.444C= (p.Cys148=)
c.327C= (p.Cys109=)
c.*33C= (n.*33C=)
c.*248C= (n.*248C=)
c.*343C= (n.*343C=)
c.177C= (p.Cys59=)
c.429C= (p.Cys143=)
c.249C= (p.Cys83=)
c.240C= (p.Cys80=)
c.333C= (p.Cys111=)
c.243C= (p.Cys81=)
c.288C= (p.Cys96=)
13g.101726790G>TCA388711392FGF14c.444C>A (p.Cys148Ter)
c.327C>A (p.Cys109Ter)
c.*33C>A (n.*33C>A)
c.*248C>A (n.*248C>A)
c.*343C>A (n.*343C>A)
c.177C>A (p.Cys59Ter)
c.429C>A (p.Cys143Ter)
c.249C>A (p.Cys83Ter)
c.240C>A (p.Cys80Ter)
c.333C>A (p.Cys111Ter)
c.243C>A (p.Cys81Ter)
c.288C>A (p.Cys96Ter)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched