Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42910912_42911425delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTACA2260697314G6PC1c.563-3_1073delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
c.447-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
c.486-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
17g.42910915_42911427delCA1139665564G6PC1c.563_*1del
c.447_*467del
c.486_*467del
 ClinVar dbSNP
17g.42911210delCA16041845G6PC1c.858del (p.Lys287AsnfsTer14)
c.*250del (n.*250del)
 ClinVar dbSNP
17g.42911210G>ACA500229725G6PC1c.858G>A (p.Gly286=)
c.*250G>A (n.*250G>A)
17g.42911210G>CCA500229726G6PC1c.858G>C (p.Gly286=)
c.*250G>C (n.*250G>C)
17g.42911210G>TCA500229727G6PC1c.858G>T (p.Gly286=)
c.*250G>T (n.*250G>T)
17g.42911211A>CCA399656643G6PC1c.859A>C (p.Lys287Gln)
c.*251A>C (n.*251A>C)
 COSMIC
17g.42911211A>GCA399656644G6PC1c.859A>G (p.Lys287Glu)
c.*251A>G (n.*251A>G)
17g.42911211A>TCA399656646G6PC1c.859A>T (p.Lys287Ter)
c.*251A>T (n.*251A>T)
17g.42911212A>CCA399656648G6PC1c.860A>C (p.Lys287Thr)
c.*252A>C (n.*252A>C)
17g.42911212A>GCA399656649G6PC1c.860A>G (p.Lys287Arg)
c.*252A>G (n.*252A>G)
17g.42911212A>TCA399656650G6PC1c.860A>T (p.Lys287Ile)
c.*252A>T (n.*252A>T)
17g.42911213A>CCA399656651G6PC1c.861A>C (p.Lys287Asn)
c.*253A>C (n.*253A>C)
17g.42911213A>GCA500229731G6PC1c.861A>G (p.Lys287=)
c.*253A>G (n.*253A>G)
17g.42911213A>TCA399656652G6PC1c.861A>T (p.Lys287Asn)
c.*253A>T (n.*253A>T)
17g.42911214C>ACA399656654G6PC1c.862C>A (p.Leu288Ile)
c.*254C>A (n.*254C>A)
17g.42911214C=CA2260697443G6PC1c.862C= (p.Leu288=)
c.*254C= (n.*254C=)
17g.42911214C>GCA399656656G6PC1c.862C>G (p.Leu288Val)
c.*254C>G (n.*254C>G)
17g.42911214C>TCA290790031G6PC1c.862C>T (p.Leu288Phe)
c.*254C>T (n.*254C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911215_42911216delCA2638041526G6PC1c.863_864del (p.Leu288GlnfsTer22)
c.*255_*256del (n.*255_*256del)
 gnomAD v4
17g.42911215T>ACA399656658G6PC1c.863T>A (p.Leu288His)
c.*255T>A (n.*255T>A)
 dbSNP
17g.42911215T>CCA399656659G6PC1c.863T>C (p.Leu288Pro)
c.*255T>C (n.*255T>C)
17g.42911215T>GCA399656660G6PC1c.863T>G (p.Leu288Arg)
c.*255T>G (n.*255T>G)
17g.42911216C>ACA500229737G6PC1c.864C>A (p.Leu288=)
c.*256C>A (n.*256C>A)
17g.42911216C>GCA500229738G6PC1c.864C>G (p.Leu288=)
c.*256C>G (n.*256C>G)
17g.42911216C>TCA500229739G6PC1c.864C>T (p.Leu288=)
c.*256C>T (n.*256C>T)
17g.42911217A=CA2260697444G6PC1c.865A= (p.Ser289=)
c.*257A= (n.*257A=)
17g.42911217A>CCA399656663G6PC1c.865A>C (p.Ser289Arg)
c.*257A>C (n.*257A>C)
17g.42911217A>GCA290790032G6PC1c.865A>G (p.Ser289Gly)
c.*257A>G (n.*257A>G)
 dbSNP
17g.42911217A>TCA399656665G6PC1c.865A>T (p.Ser289Cys)
c.*257A>T (n.*257A>T)
17g.42911218G>ACA399656670G6PC1c.866G>A (p.Ser289Asn)
c.*258G>A (n.*258G>A)
17g.42911218G>CCA399656667G6PC1c.866G>C (p.Ser289Thr)
c.*258G>C (n.*258G>C)
17g.42911218G=CA2260697445G6PC1c.866G= (p.Ser289=)
c.*258G= (n.*258G=)
17g.42911218G>TCA399656669G6PC1c.866G>T (p.Ser289Ile)
c.*258G>T (n.*258G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911219C>ACA399656672G6PC1c.867C>A (p.Ser289Arg)
c.*259C>A (n.*259C>A)
17g.42911219C>GCA399656674G6PC1c.867C>G (p.Ser289Arg)
c.*259C>G (n.*259C>G)
17g.42911219C>TCA500229743G6PC1c.867C>T (p.Ser289=)
c.*259C>T (n.*259C>T)
17g.42911220A>CCA399656676G6PC1c.868A>C (p.Lys290Gln)
c.*260A>C (n.*260A>C)
17g.42911220A>GCA399656677G6PC1c.868A>G (p.Lys290Glu)
c.*260A>G (n.*260A>G)
17g.42911220A>TCA399656678G6PC1c.868A>T (p.Lys290Ter)
c.*260A>T (n.*260A>T)
17g.42911221A>CCA399656680G6PC1c.869A>C (p.Lys290Thr)
c.*261A>C (n.*261A>C)
17g.42911221A>GCA399656684G6PC1c.869A>G (p.Lys290Arg)
c.*261A>G (n.*261A>G)
17g.42911221A>TCA399656682G6PC1c.869A>T (p.Lys290Met)
c.*261A>T (n.*261A>T)
 gnomAD v2 gnomAD v4
17g.42911222delCA2576281044G6PC1c.870del (p.Lys290AsnfsTer11)
c.*262del (n.*262del)
17g.42911222G>ACA8587666G6PC1c.870G>A (p.Lys290=)
c.*262G>A (n.*262G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911222G>CCA399656687G6PC1c.870G>C (p.Lys290Asn)
c.*262G>C (n.*262G>C)
17g.42911222G=CA2260697446G6PC1c.870G= (p.Lys290=)
c.*262G= (n.*262G=)
17g.42911222G>TCA399656688G6PC1c.870G>T (p.Lys290Asn)
c.*262G>T (n.*262G>T)
17g.42911223T>ACA399656689G6PC1c.871T>A (p.Trp291Arg)
c.*263T>A (n.*263T>A)
17g.42911223T>CCA399656690G6PC1c.871T>C (p.Trp291Arg)
c.*263T>C (n.*263T>C)
17g.42911223T>GCA399656692G6PC1c.871T>G (p.Trp291Gly)
c.*263T>G (n.*263T>G)
17g.42911224G>ACA399656694G6PC1c.872G>A (p.Trp291Ter)
c.*264G>A (n.*264G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.42911224G>CCA399656696G6PC1c.872G>C (p.Trp291Ser)
c.*264G>C (n.*264G>C)
17g.42911224G=CA2260697447G6PC1c.872G= (p.Trp291=)
c.*264G= (n.*264G=)
17g.42911224G>TCA399656697G6PC1c.872G>T (p.Trp291Leu)
c.*264G>T (n.*264G>T)
 dbSNP
17g.42911225G>ACA399656699G6PC1c.873G>A (p.Trp291Ter)
c.*265G>A (n.*265G>A)
17g.42911225G>CCA399656700G6PC1c.873G>C (p.Trp291Cys)
c.*265G>C (n.*265G>C)
17g.42911225G>TCA399656701G6PC1c.873G>T (p.Trp291Cys)
c.*265G>T (n.*265G>T)
17g.42911226C>ACA399656703G6PC1c.874C>A (p.Leu292Ile)
c.*266C>A (n.*266C>A)
17g.42911226C>GCA399656706G6PC1c.874C>G (p.Leu292Val)
c.*266C>G (n.*266C>G)
17g.42911226C>TCA399656705G6PC1c.874C>T (p.Leu292Phe)
c.*266C>T (n.*266C>T)
17g.42911227T>ACA399656707G6PC1c.875T>A (p.Leu292His)
c.*267T>A (n.*267T>A)
17g.42911227T>CCA399656713G6PC1c.875T>C (p.Leu292Pro)
c.*267T>C (n.*267T>C)
17g.42911227T>GCA399656711G6PC1c.875T>G (p.Leu292Arg)
c.*267T>G (n.*267T>G)
17g.42911228C>ACA500229753G6PC1c.876C>A (p.Leu292=)
c.*268C>A (n.*268C>A)
17g.42911228C>GCA500229754G6PC1c.876C>G (p.Leu292=)
c.*268C>G (n.*268C>G)
17g.42911228C>TCA500229755G6PC1c.876C>T (p.Leu292=)
c.*268C>T (n.*268C>T)
17g.42911229C>ACA399656716G6PC1c.877C>A (p.Pro293Thr)
c.*269C>A (n.*269C>A)
17g.42911229C=CA2260697448G6PC1c.877C= (p.Pro293=)
c.*269C= (n.*269C=)
17g.42911229C>GCA290790055G6PC1c.877C>G (p.Pro293Ala)
c.*269C>G (n.*269C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42911229C>TCA399656720G6PC1c.877C>T (p.Pro293Ser)
c.*269C>T (n.*269C>T)
 COSMIC
17g.42911230C>ACA399656723G6PC1c.878C>A (p.Pro293Gln)
c.*270C>A (n.*270C>A)
17g.42911230C=CA2260697449G6PC1c.878C= (p.Pro293=)
c.*270C= (n.*270C=)
17g.42911230C>GCA399656726G6PC1c.878C>G (p.Pro293Arg)
c.*270C>G (n.*270C>G)
17g.42911230C>TCA8587667G6PC1c.878C>T (p.Pro293Leu)
c.*270C>T (n.*270C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42911231A=CA2260697450G6PC1c.879A= (p.Pro293=)
c.*271A= (n.*271A=)
17g.42911231A>CCA500229760G6PC1c.879A>C (p.Pro293=)
c.*271A>C (n.*271A>C)
17g.42911231A>GCA8587668G6PC1c.879A>G (p.Pro293=)
c.*271A>G (n.*271A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911231A>TCA500229762G6PC1c.879A>T (p.Pro293=)
c.*271A>T (n.*271A>T)
17g.42911232T>ACA399656733G6PC1c.880T>A (p.Phe294Ile)
c.*272T>A (n.*272T>A)
17g.42911232T>CCA399656736G6PC1c.880T>C (p.Phe294Leu)
c.*272T>C (n.*272T>C)
17g.42911232T>GCA399656739G6PC1c.880T>G (p.Phe294Val)
c.*272T>G (n.*272T>G)
17g.42911233T>ACA399656744G6PC1c.881T>A (p.Phe294Tyr)
c.*273T>A (n.*273T>A)
17g.42911233T>CCA399656749G6PC1c.881T>C (p.Phe294Ser)
c.*273T>C (n.*273T>C)
17g.42911233T>GCA399656751G6PC1c.881T>G (p.Phe294Cys)
c.*273T>G (n.*273T>G)
 gnomAD v4
17g.42911234C>ACA321728G6PC1c.882C>A (p.Phe294Leu)
c.*274C>A (n.*274C>A)
 ClinVar dbSNP
17g.42911234C=CA2260697451G6PC1c.882C= (p.Phe294=)
c.*274C= (n.*274C=)
17g.42911234C>GCA399656755G6PC1c.882C>G (p.Phe294Leu)
c.*274C>G (n.*274C>G)
17g.42911234C>TCA500229764G6PC1c.882C>T (p.Phe294=)
c.*274C>T (n.*274C>T)
17g.42911235C>ACA399656757G6PC1c.883C>A (p.Arg295Ser)
c.*275C>A (n.*275C>A)
17g.42911235C=CA2260697452G6PC1c.883C= (p.Arg295=)
c.*275C= (n.*275C=)
17g.42911235C>GCA399656763G6PC1c.883C>G (p.Arg295Gly)
c.*275C>G (n.*275C>G)
17g.42911235C>TCA256178G6PC1c.883C>T (p.Arg295Cys)
c.*275C>T (n.*275C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911236G>ACA8587669G6PC1c.884G>A (p.Arg295His)
c.*276G>A (n.*276G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911236G>CCA399656770G6PC1c.884G>C (p.Arg295Pro)
c.*276G>C (n.*276G>C)
17g.42911236G=CA2260697453G6PC1c.884G= (p.Arg295=)
c.*276G= (n.*276G=)
17g.42911236G>TCA399656776G6PC1c.884G>T (p.Arg295Leu)
c.*276G>T (n.*276G>T)
17g.42911237C>ACA500229767G6PC1c.885C>A (p.Arg295=)
c.*277C>A (n.*277C>A)
17g.42911237C>GCA500229768G6PC1c.885C>G (p.Arg295=)
c.*277C>G (n.*277C>G)
17g.42911237C>TCA500229770G6PC1c.885C>T (p.Arg295=)
c.*277C>T (n.*277C>T)
17g.42911238C>ACA399656780G6PC1c.886C>A (p.Leu296Ile)
c.*278C>A (n.*278C>A)
17g.42911238C=CA2260697454G6PC1c.886C= (p.Leu296=)
c.*278C= (n.*278C=)
17g.42911238C>GCA399656785G6PC1c.886C>G (p.Leu296Val)
c.*278C>G (n.*278C>G)
17g.42911238C>TCA399656788G6PC1c.886C>T (p.Leu296Phe)
c.*278C>T (n.*278C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911239T>ACA399656792G6PC1c.887T>A (p.Leu296His)
c.*279T>A (n.*279T>A)
17g.42911239T>CCA399656797G6PC1c.887T>C (p.Leu296Pro)
c.*279T>C (n.*279T>C)
17g.42911239T>GCA399656798G6PC1c.887T>G (p.Leu296Arg)
c.*279T>G (n.*279T>G)
17g.42911240C>ACA500229776G6PC1c.888C>A (p.Leu296=)
c.*280C>A (n.*280C>A)
17g.42911240C=CA2260697455G6PC1c.888C= (p.Leu296=)
c.*280C= (n.*280C=)
17g.42911240C>GCA500229777G6PC1c.888C>G (p.Leu296=)
c.*280C>G (n.*280C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42911240C>TCA500229780G6PC1c.888C>T (p.Leu296=)
c.*280C>T (n.*280C>T)
17g.42911241A>CCA399656805G6PC1c.889A>C (p.Ser297Arg)
c.*281A>C (n.*281A>C)
17g.42911241A>GCA399656804G6PC1c.889A>G (p.Ser297Gly)
c.*281A>G (n.*281A>G)
17g.42911241A>TCA399656800G6PC1c.889A>T (p.Ser297Cys)
c.*281A>T (n.*281A>T)
17g.42911242G>ACA399656806G6PC1c.890G>A (p.Ser297Asn)
c.*282G>A (n.*282G>A)
17g.42911242G>CCA399656807G6PC1c.890G>C (p.Ser297Thr)
c.*282G>C (n.*282G>C)
17g.42911242G>TCA399656817G6PC1c.890G>T (p.Ser297Ile)
c.*282G>T (n.*282G>T)
17g.42911243C>ACA399656824G6PC1c.891C>A (p.Ser297Arg)
c.*283C>A (n.*283C>A)
17g.42911243C>GCA399656825G6PC1c.891C>G (p.Ser297Arg)
c.*283C>G (n.*283C>G)
17g.42911243C>TCA500229784G6PC1c.891C>T (p.Ser297=)
c.*283C>T (n.*283C>T)
 ClinVar gnomAD v4
17g.42911244T>ACA399656837G6PC1c.892T>A (p.Ser298Thr)
c.*284T>A (n.*284T>A)
17g.42911244T>CCA8587670G6PC1c.892T>C (p.Ser298Pro)
c.*284T>C (n.*284T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911244T>GCA399656839G6PC1c.892T>G (p.Ser298Ala)
c.*284T>G (n.*284T>G)
17g.42911244T=CA2260697456G6PC1c.892T= (p.Ser298=)
c.*284T= (n.*284T=)
17g.42911245C>ACA399656841G6PC1c.893C>A (p.Ser298Tyr)
c.*285C>A (n.*285C>A)
17g.42911245C>GCA399656844G6PC1c.893C>G (p.Ser298Cys)
c.*285C>G (n.*285C>G)
17g.42911245C>TCA399656845G6PC1c.893C>T (p.Ser298Phe)
c.*285C>T (n.*285C>T)
17g.42911246T>ACA500229786G6PC1c.894T>A (p.Ser298=)
c.*286T>A (n.*286T>A)
17g.42911246T>CCA500229787G6PC1c.894T>C (p.Ser298=)
c.*286T>C (n.*286T>C)
17g.42911246T>GCA500229788G6PC1c.894T>G (p.Ser298=)
c.*286T>G (n.*286T>G)
 gnomAD v4
17g.42911247A=CA2260697457G6PC1c.895A= (p.Ile299=)
c.*287A= (n.*287A=)
17g.42911247A>CCA399656853G6PC1c.895A>C (p.Ile299Leu)
c.*287A>C (n.*287A>C)
 gnomAD v4
17g.42911247A>GCA399656850G6PC1c.895A>G (p.Ile299Val)
c.*287A>G (n.*287A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42911247A>TCA399656847G6PC1c.895A>T (p.Ile299Phe)
c.*287A>T (n.*287A>T)
17g.42911248T>ACA399656861G6PC1c.896T>A (p.Ile299Asn)
c.*288T>A (n.*288T>A)
17g.42911248T>CCA8587671G6PC1c.896T>C (p.Ile299Thr)
c.*288T>C (n.*288T>C)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17g.42911248T>GCA399656872G6PC1c.896T>G (p.Ile299Ser)
c.*288T>G (n.*288T>G)
17g.42911248T=CA2260697458G6PC1c.896T= (p.Ile299=)
c.*288T= (n.*288T=)
17g.42911249T>ACA500229790G6PC1c.897T>A (p.Ile299=)
c.*289T>A (n.*289T>A)
17g.42911249T>CCA500229791G6PC1c.897T>C (p.Ile299=)
c.*289T>C (n.*289T>C)
17g.42911249T>GCA399656875G6PC1c.897T>G (p.Ile299Met)
c.*289T>G (n.*289T>G)
17g.42911250G>ACA399656879G6PC1c.898G>A (p.Val300Ile)
c.*290G>A (n.*290G>A)
17g.42911250G>CCA399656883G6PC1c.898G>C (p.Val300Leu)
c.*290G>C (n.*290G>C)
17g.42911250G>TCA399656891G6PC1c.898G>T (p.Val300Leu)
c.*290G>T (n.*290G>T)
17g.42911251T>ACA399656894G6PC1c.899T>A (p.Val300Glu)
c.*291T>A (n.*291T>A)
17g.42911251T>CCA399656896G6PC1c.899T>C (p.Val300Ala)
c.*291T>C (n.*291T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.42911251T>GCA399656899G6PC1c.899T>G (p.Val300Gly)
c.*291T>G (n.*291T>G)
17g.42911251T=CA2260697459G6PC1c.899T= (p.Val300=)
c.*291T= (n.*291T=)
17g.42911252delCA2695226085G6PC1c.900del (p.Ala301ProfsTer12)
c.*292del (n.*292del)
17g.42911252A>CCA500229794G6PC1c.900A>C (p.Val300=)
c.*292A>C (n.*292A>C)
17g.42911252A>GCA500229795G6PC1c.900A>G (p.Val300=)
c.*292A>G (n.*292A>G)
17g.42911252A>TCA500229796G6PC1c.900A>T (p.Val300=)
c.*292A>T (n.*292A>T)
17g.42911253G>ACA399656901G6PC1c.901G>A (p.Ala301Thr)
c.*293G>A (n.*293G>A)
17g.42911253G>CCA399656903G6PC1c.901G>C (p.Ala301Pro)
c.*293G>C (n.*293G>C)
17g.42911253G>TCA399656906G6PC1c.901G>T (p.Ala301Ser)
c.*293G>T (n.*293G>T)
17g.42911254C>ACA399656916G6PC1c.902C>A (p.Ala301Asp)
c.*294C>A (n.*294C>A)
17g.42911254C>GCA399656923G6PC1c.902C>G (p.Ala301Gly)
c.*294C>G (n.*294C>G)
17g.42911254C>TCA399656911G6PC1c.902C>T (p.Ala301Val)
c.*294C>T (n.*294C>T)
17g.42911255C>ACA500229799G6PC1c.903C>A (p.Ala301=)
c.*295C>A (n.*295C>A)
17g.42911255C>GCA500229801G6PC1c.903C>G (p.Ala301=)
c.*295C>G (n.*295C>G)
17g.42911255C>TCA500229800G6PC1c.903C>T (p.Ala301=)
c.*295C>T (n.*295C>T)
 ClinVar
17g.42911256T>ACA399656944G6PC1c.904T>A (p.Ser302Thr)
c.*296T>A (n.*296T>A)
17g.42911256T>CCA399656940G6PC1c.904T>C (p.Ser302Pro)
c.*296T>C (n.*296T>C)
17g.42911256T>GCA399656941G6PC1c.904T>G (p.Ser302Ala)
c.*296T>G (n.*296T>G)
17g.42911257C>ACA399656948G6PC1c.905C>A (p.Ser302Tyr)
c.*297C>A (n.*297C>A)
17g.42911257C>GCA399656949G6PC1c.905C>G (p.Ser302Cys)
c.*297C>G (n.*297C>G)
17g.42911257C>TCA399656950G6PC1c.905C>T (p.Ser302Phe)
c.*297C>T (n.*297C>T)
17g.42911258C>ACA500229805G6PC1c.906C>A (p.Ser302=)
c.*298C>A (n.*298C>A)
17g.42911258C>GCA500229806G6PC1c.906C>G (p.Ser302=)
c.*298C>G (n.*298C>G)
17g.42911258C>TCA500229807G6PC1c.906C>T (p.Ser302=)
c.*298C>T (n.*298C>T)
17g.42911259C>ACA399656951G6PC1c.907C>A (p.Leu303Ile)
c.*299C>A (n.*299C>A)
 dbSNP gnomAD v4
17g.42911259C=CA2260697460G6PC1c.907C= (p.Leu303=)
c.*299C= (n.*299C=)
17g.42911259C>GCA399656952G6PC1c.907C>G (p.Leu303Val)
c.*299C>G (n.*299C>G)
17g.42911259C>TCA399656955G6PC1c.907C>T (p.Leu303Phe)
c.*299C>T (n.*299C>T)
17g.42911260T>ACA399656956G6PC1c.908T>A (p.Leu303His)
c.*300T>A (n.*300T>A)
17g.42911260T>CCA399656959G6PC1c.908T>C (p.Leu303Pro)
c.*300T>C (n.*300T>C)
17g.42911260T>GCA399656962G6PC1c.908T>G (p.Leu303Arg)
c.*300T>G (n.*300T>G)
17g.42911261C>ACA500229810G6PC1c.909C>A (p.Leu303=)
c.*301C>A (n.*301C>A)
17g.42911261C=CA2260697461G6PC1c.909C= (p.Leu303=)
c.*301C= (n.*301C=)
17g.42911261C>GCA500229811G6PC1c.909C>G (p.Leu303=)
c.*301C>G (n.*301C>G)
 ClinVar
17g.42911261C>TCA8587672G6PC1c.909C>T (p.Leu303=)
c.*301C>T (n.*301C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911262G>ACA321240G6PC1c.910G>A (p.Val304Ile)
c.*302G>A (n.*302G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911262G>CCA399656971G6PC1c.910G>C (p.Val304Leu)
c.*302G>C (n.*302G>C)
17g.42911262G=CA2260697462G6PC1c.910G= (p.Val304=)
c.*302G= (n.*302G=)
17g.42911262G>TCA399656974G6PC1c.910G>T (p.Val304Phe)
c.*302G>T (n.*302G>T)
17g.42911263T>ACA399656992G6PC1c.911T>A (p.Val304Asp)
c.*303T>A (n.*303T>A)
17g.42911263T>CCA399656996G6PC1c.911T>C (p.Val304Ala)
c.*303T>C (n.*303T>C)
17g.42911263T>GCA399656999G6PC1c.911T>G (p.Val304Gly)
c.*303T>G (n.*303T>G)
17g.42911264C>ACA500229815G6PC1c.912C>A (p.Val304=)
c.*304C>A (n.*304C>A)
17g.42911264C>GCA500229816G6PC1c.912C>G (p.Val304=)
c.*304C>G (n.*304C>G)
17g.42911264C>TCA500229817G6PC1c.912C>T (p.Val304=)
c.*304C>T (n.*304C>T)
17g.42911265C>ACA399657002G6PC1c.913C>A (p.Leu305Ile)
c.*305C>A (n.*305C>A)
17g.42911265C=CA2260697463G6PC1c.913C= (p.Leu305=)
c.*305C= (n.*305C=)
17g.42911265C>GCA399657004G6PC1c.913C>G (p.Leu305Val)
c.*305C>G (n.*305C>G)
17g.42911265C>TCA8587673G6PC1c.913C>T (p.Leu305Phe)
c.*305C>T (n.*305C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911266T>ACA399657010G6PC1c.914T>A (p.Leu305His)
c.*306T>A (n.*306T>A)
17g.42911266T>CCA399657013G6PC1c.914T>C (p.Leu305Pro)
c.*306T>C (n.*306T>C)
17g.42911266T>GCA399657017G6PC1c.914T>G (p.Leu305Arg)
c.*306T>G (n.*306T>G)
17g.42911267C>ACA500229821G6PC1c.915C>A (p.Leu305=)
c.*307C>A (n.*307C>A)
17g.42911267C>GCA500229823G6PC1c.915C>G (p.Leu305=)
c.*307C>G (n.*307C>G)
17g.42911267C>TCA500229822G6PC1c.915C>T (p.Leu305=)
c.*307C>T (n.*307C>T)
17g.42911268C>ACA399657019G6PC1c.916C>A (p.Leu306Met)
c.*308C>A (n.*308C>A)
17g.42911268C=CA2260697464G6PC1c.916C= (p.Leu306=)
c.*308C= (n.*308C=)
17g.42911268C>GCA399657021G6PC1c.916C>G (p.Leu306Val)
c.*308C>G (n.*308C>G)
17g.42911268C>TCA290790113G6PC1c.916C>T (p.Leu306=)
c.*308C>T (n.*308C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.42911269T>ACA399657029G6PC1c.917T>A (p.Leu306Gln)
c.*309T>A (n.*309T>A)
17g.42911269T>CCA399657032G6PC1c.917T>C (p.Leu306Pro)
c.*309T>C (n.*309T>C)
 gnomAD v4
17g.42911269T>GCA399657026G6PC1c.917T>G (p.Leu306Arg)
c.*309T>G (n.*309T>G)
17g.42911270G>ACA500229828G6PC1c.918G>A (p.Leu306=)
c.*310G>A (n.*310G>A)
 ClinVar
17g.42911270G>CCA500229826G6PC1c.918G>C (p.Leu306=)
c.*310G>C (n.*310G>C)
17g.42911270G>TCA500229827G6PC1c.918G>T (p.Leu306=)
c.*310G>T (n.*310G>T)
17g.42911271C>ACA399657035G6PC1c.919C>A (p.His307Asn)
c.*311C>A (n.*311C>A)
17g.42911271C>GCA399657039G6PC1c.919C>G (p.His307Asp)
c.*311C>G (n.*311C>G)
17g.42911271C>TCA399657040G6PC1c.919C>T (p.His307Tyr)
c.*311C>T (n.*311C>T)
17g.42911272A>CCA399657044G6PC1c.920A>C (p.His307Pro)
c.*312A>C (n.*312A>C)
17g.42911272A>GCA399657048G6PC1c.920A>G (p.His307Arg)
c.*312A>G (n.*312A>G)
17g.42911272A>TCA399657059G6PC1c.920A>T (p.His307Leu)
c.*312A>T (n.*312A>T)
17g.42911273C>ACA399657062G6PC1c.921C>A (p.His307Gln)
c.*313C>A (n.*313C>A)
17g.42911273C=CA2260697465G6PC1c.921C= (p.His307=)
c.*313C= (n.*313C=)
17g.42911273C>GCA399657064G6PC1c.921C>G (p.His307Gln)
c.*313C>G (n.*313C>G)
17g.42911273C>TCA500229831G6PC1c.921C>T (p.His307=)
c.*313C>T (n.*313C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.42911274G>ACA8587674G6PC1c.922G>A (p.Val308Ile)
c.*314G>A (n.*314G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42911274G>CCA290790125G6PC1c.922G>C (p.Val308Leu)
c.*314G>C (n.*314G>C)
 dbSNP
17g.42911274G=CA2260697466G6PC1c.922G= (p.Val308=)
c.*314G= (n.*314G=)
17g.42911274G>TCA399657070G6PC1c.922G>T (p.Val308Phe)
c.*314G>T (n.*314G>T)
17g.42911275T>ACA399657071G6PC1c.923T>A (p.Val308Asp)
c.*315T>A (n.*315T>A)
17g.42911275T>CCA399657072G6PC1c.923T>C (p.Val308Ala)
c.*315T>C (n.*315T>C)
 gnomAD v4
17g.42911275T>GCA399657073G6PC1c.923T>G (p.Val308Gly)
c.*315T>G (n.*315T>G)
17g.42911276C>ACA500229833G6PC1c.924C>A (p.Val308=)
c.*316C>A (n.*316C>A)
17g.42911276C>GCA500229834G6PC1c.924C>G (p.Val308=)
c.*316C>G (n.*316C>G)
17g.42911276C>TCA500229835G6PC1c.924C>T (p.Val308=)
c.*316C>T (n.*316C>T)
 COSMIC
17g.42911277T>ACA399657077G6PC1c.925T>A (p.Phe309Ile)
c.*317T>A (n.*317T>A)
 gnomAD v4
17g.42911277T>CCA399657076G6PC1c.925T>C (p.Phe309Leu)
c.*317T>C (n.*317T>C)
17g.42911277T>GCA399657074G6PC1c.925T>G (p.Phe309Val)
c.*317T>G (n.*317T>G)
17g.42911279delCA2695226086G6PC1c.927del (p.Phe309LeufsTer4)
c.*319del (n.*319del)
17g.42911278T>ACA399657083G6PC1c.926T>A (p.Phe309Tyr)
c.*318T>A (n.*318T>A)
17g.42911278T>CCA399657087G6PC1c.926T>C (p.Phe309Ser)
c.*318T>C (n.*318T>C)
17g.42911278T>GCA399657088G6PC1c.926T>G (p.Phe309Cys)
c.*318T>G (n.*318T>G)
17g.42911279T>ACA399657090G6PC1c.927T>A (p.Phe309Leu)
c.*319T>A (n.*319T>A)
17g.42911279T>CCA500229836G6PC1c.927T>C (p.Phe309=)
c.*319T>C (n.*319T>C)
 ClinVar
17g.42911279T>GCA399657095G6PC1c.927T>G (p.Phe309Leu)
c.*319T>G (n.*319T>G)
17g.42911280G>ACA399657097G6PC1c.928G>A (p.Asp310Asn)
c.*320G>A (n.*320G>A)
 ClinVar dbSNP gnomAD v4
17g.42911280G>CCA399657105G6PC1c.928G>C (p.Asp310His)
c.*320G>C (n.*320G>C)
17g.42911280G=CA2260697467G6PC1c.928G= (p.Asp310=)
c.*320G= (n.*320G=)
17g.42911280G>TCA399657115G6PC1c.928G>T (p.Asp310Tyr)
c.*320G>T (n.*320G>T)
17g.42911281A>CCA399657118G6PC1c.929A>C (p.Asp310Ala)
c.*321A>C (n.*321A>C)
17g.42911281A>GCA399657124G6PC1c.929A>G (p.Asp310Gly)
c.*321A>G (n.*321A>G)
17g.42911281A>TCA399657132G6PC1c.929A>T (p.Asp310Val)
c.*321A>T (n.*321A>T)
17g.42911282C>ACA399657136G6PC1c.930C>A (p.Asp310Glu)
c.*322C>A (n.*322C>A)
17g.42911282C=CA2260697468G6PC1c.930C= (p.Asp310=)
c.*322C= (n.*322C=)
17g.42911282C>GCA399657138G6PC1c.930C>G (p.Asp310Glu)
c.*322C>G (n.*322C>G)
17g.42911282C>TCA500229842G6PC1c.930C>T (p.Asp310=)
c.*322C>T (n.*322C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911283T>ACA399657156G6PC1c.931T>A (p.Ser311Thr)
c.*323T>A (n.*323T>A)
17g.42911283T>CCA399657153G6PC1c.931T>C (p.Ser311Pro)
c.*323T>C (n.*323T>C)
17g.42911283T>GCA399657155G6PC1c.931T>G (p.Ser311Ala)
c.*323T>G (n.*323T>G)
17g.42911284C>ACA399657160G6PC1c.932C>A (p.Ser311Tyr)
c.*324C>A (n.*324C>A)
 gnomAD v4
17g.42911284C>GCA399657164G6PC1c.932C>G (p.Ser311Cys)
c.*324C>G (n.*324C>G)
17g.42911284C>TCA399657163G6PC1c.932C>T (p.Ser311Phe)
c.*324C>T (n.*324C>T)
 COSMIC
17g.42911285C>ACA500229845G6PC1c.933C>A (p.Ser311=)
c.*325C>A (n.*325C>A)
 dbSNP
17g.42911285C=CA2260697469G6PC1c.933C= (p.Ser311=)
c.*325C= (n.*325C=)
17g.42911285C>GCA500229846G6PC1c.933C>G (p.Ser311=)
c.*325C>G (n.*325C>G)
17g.42911285C>TCA500229849G6PC1c.933C>T (p.Ser311=)
c.*325C>T (n.*325C>T)
 dbSNP gnomAD v4
17g.42911286T>ACA399657165G6PC1c.934T>A (p.Leu312Met)
c.*326T>A (n.*326T>A)
17g.42911286T>CCA500229851G6PC1c.934T>C (p.Leu312=)
c.*326T>C (n.*326T>C)
17g.42911286T>GCA399657166G6PC1c.934T>G (p.Leu312Val)
c.*326T>G (n.*326T>G)
17g.42911287T>ACA399657167G6PC1c.935T>A (p.Leu312Ter)
c.*327T>A (n.*327T>A)
17g.42911287T>CCA399657171G6PC1c.935T>C (p.Leu312Ser)
c.*327T>C (n.*327T>C)
17g.42911287T>GCA399657169G6PC1c.935T>G (p.Leu312Trp)
c.*327T>G (n.*327T>G)
17g.42911288G>ACA500229852G6PC1c.936G>A (p.Leu312=)
c.*328G>A (n.*328G>A)
17g.42911288G>CCA399657175G6PC1c.936G>C (p.Leu312Phe)
c.*328G>C (n.*328G>C)
 gnomAD v4
17g.42911288G>TCA399657179G6PC1c.936G>T (p.Leu312Phe)
c.*328G>T (n.*328G>T)
17g.42911289A>CCA399657184G6PC1c.937A>C (p.Lys313Gln)
c.*329A>C (n.*329A>C)
17g.42911289A>GCA399657187G6PC1c.937A>G (p.Lys313Glu)
c.*329A>G (n.*329A>G)
17g.42911289A>TCA399657189G6PC1c.937A>T (p.Lys313Ter)
c.*329A>T (n.*329A>T)
17g.42911290A>CCA399657192G6PC1c.938A>C (p.Lys313Thr)
c.*330A>C (n.*330A>C)
17g.42911290A>GCA399657194G6PC1c.938A>G (p.Lys313Arg)
c.*330A>G (n.*330A>G)
17g.42911290A>TCA399657195G6PC1c.938A>T (p.Lys313Ile)
c.*330A>T (n.*330A>T)
17g.42911291A=CA2260697470G6PC1c.939A= (p.Lys313=)
c.*331A= (n.*331A=)
17g.42911291A>CCA399657196G6PC1c.939A>C (p.Lys313Asn)
c.*331A>C (n.*331A>C)
 dbSNP gnomAD v3 gnomAD v4
17g.42911291A>GCA500229857G6PC1c.939A>G (p.Lys313=)
c.*331A>G (n.*331A>G)
17g.42911291A>TCA399657197G6PC1c.939A>T (p.Lys313Asn)
c.*331A>T (n.*331A>T)
17g.42911292C>ACA399657202G6PC1c.940C>A (p.Pro314Thr)
c.*332C>A (n.*332C>A)
17g.42911292C=CA2260697471G6PC1c.940C= (p.Pro314=)
c.*332C= (n.*332C=)
17g.42911292C>GCA399657201G6PC1c.940C>G (p.Pro314Ala)
c.*332C>G (n.*332C>G)
17g.42911292C>TCA399657200G6PC1c.940C>T (p.Pro314Ser)
c.*332C>T (n.*332C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911296dupCA2638041600G6PC1c.944dup (p.Ser316IlefsTer?)
c.*336dup (n.*336dup)
 gnomAD v4
17g.42911293C>ACA399657204G6PC1c.941C>A (p.Pro314His)
c.*333C>A (n.*333C>A)
17g.42911293C=CA2260697472G6PC1c.941C= (p.Pro314=)
c.*333C= (n.*333C=)
17g.42911293C>GCA399657206G6PC1c.941C>G (p.Pro314Arg)
c.*333C>G (n.*333C>G)
17g.42911293C>TCA8587675G6PC1c.941C>T (p.Pro314Leu)
c.*333C>T (n.*333C>T)
 dbSNP ExAC gnomAD v2
17g.42911294C>ACA8587677G6PC1c.942C>A (p.Pro314=)
c.*334C>A (n.*334C>A)
 dbSNP ExAC gnomAD v2
17g.42911294C=CA2260697473G6PC1c.942C= (p.Pro314=)
c.*334C= (n.*334C=)
17g.42911294C>GCA8587676G6PC1c.942C>G (p.Pro314=)
c.*334C>G (n.*334C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911294C>TCA500229861G6PC1c.942C>T (p.Pro314=)
c.*334C>T (n.*334C>T)
17g.42911295C>ACA399657216G6PC1c.943C>A (p.Pro315Thr)
c.*335C>A (n.*335C>A)
17g.42911295C=CA2260697474G6PC1c.943C= (p.Pro315=)
c.*335C= (n.*335C=)
17g.42911295C>GCA323719G6PC1c.943C>G (p.Pro315Ala)
c.*335C>G (n.*335C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911295C>TCA399657220G6PC1c.943C>T (p.Pro315Ser)
c.*335C>T (n.*335C>T)
 dbSNP COSMIC
17g.42911296C>ACA399657224G6PC1c.944C>A (p.Pro315Gln)
c.*336C>A (n.*336C>A)
17g.42911296C=CA2260697475G6PC1c.944C= (p.Pro315=)
c.*336C= (n.*336C=)
17g.42911296C>GCA399657227G6PC1c.944C>G (p.Pro315Arg)
c.*336C>G (n.*336C>G)
17g.42911296C>TCA8587678G6PC1c.944C>T (p.Pro315Leu)
c.*336C>T (n.*336C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911297A=CA2260697476G6PC1c.945A= (p.Pro315=)
c.*337A= (n.*337A=)
17g.42911297A>CCA500229864G6PC1c.945A>C (p.Pro315=)
c.*337A>C (n.*337A>C)
17g.42911297A>GCA500229866G6PC1c.945A>G (p.Pro315=)
c.*337A>G (n.*337A>G)
 ClinVar dbSNP
17g.42911297A>TCA500229867G6PC1c.945A>T (p.Pro315=)
c.*337A>T (n.*337A>T)
 dbSNP
17g.42911298T>ACA399657236G6PC1c.946T>A (p.Ser316Thr)
c.*338T>A (n.*338T>A)
17g.42911298T>CCA399657238G6PC1c.946T>C (p.Ser316Pro)
c.*338T>C (n.*338T>C)
 COSMIC
17g.42911298T>GCA399657235G6PC1c.946T>G (p.Ser316Ala)
c.*338T>G (n.*338T>G)
17g.42911299C>ACA399657241G6PC1c.947C>A (p.Ser316Tyr)
c.*339C>A (n.*339C>A)
 gnomAD v4
17g.42911299C>GCA399657243G6PC1c.947C>G (p.Ser316Cys)
c.*339C>G (n.*339C>G)
 gnomAD v4
17g.42911299C>TCA399657246G6PC1c.947C>T (p.Ser316Phe)
c.*339C>T (n.*339C>T)
17g.42911300C>ACA8587679G6PC1c.948C>A (p.Ser316=)
c.*340C>A (n.*340C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911300C=CA2260697477G6PC1c.948C= (p.Ser316=)
c.*340C= (n.*340C=)
17g.42911300C>GCA500229870G6PC1c.948C>G (p.Ser316=)
c.*340C>G (n.*340C>G)
17g.42911300C>TCA8587680G6PC1c.948C>T (p.Ser316=)
c.*340C>T (n.*340C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42911301C>ACA399657259G6PC1c.949C>A (p.Gln317Lys)
c.*341C>A (n.*341C>A)
17g.42911301C>GCA399657257G6PC1c.949C>G (p.Gln317Glu)
c.*341C>G (n.*341C>G)
17g.42911301C>TCA399657258G6PC1c.949C>T (p.Gln317Ter)
c.*341C>T (n.*341C>T)
17g.42911302A>CCA399657261G6PC1c.950A>C (p.Gln317Pro)
c.*342A>C (n.*342A>C)
17g.42911302A>GCA399657263G6PC1c.950A>G (p.Gln317Arg)
c.*342A>G (n.*342A>G)
17g.42911302A>TCA399657266G6PC1c.950A>T (p.Gln317Leu)
c.*342A>T (n.*342A>T)
17g.42911303A=CA2260697478G6PC1c.951A= (p.Gln317=)
c.*343A= (n.*343A=)
17g.42911303A>CCA399657268G6PC1c.951A>C (p.Gln317His)
c.*343A>C (n.*343A>C)
17g.42911303A>GCA500229877G6PC1c.951A>G (p.Gln317=)
c.*343A>G (n.*343A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42911303A>TCA399657270G6PC1c.951A>T (p.Gln317His)
c.*343A>T (n.*343A>T)
17g.42911304G>ACA399657274G6PC1c.952G>A (p.Val318Ile)
c.*344G>A (n.*344G>A)
17g.42911304G>CCA399657278G6PC1c.952G>C (p.Val318Leu)
c.*344G>C (n.*344G>C)
17g.42911304G=CA2260697479G6PC1c.952G= (p.Val318=)
c.*344G= (n.*344G=)
17g.42911304G>TCA399657276G6PC1c.952G>T (p.Val318Phe)
c.*344G>T (n.*344G>T)
17g.42911304_42911305insGTCA658824740G6PC1c.952_953insGT (p.Val318GlyfsTer16)
c.*344_*345insGT (n.*344_*345insGT)
 ClinVar dbSNP
17g.42911305T>ACA399657281G6PC1c.953T>A (p.Val318Asp)
c.*345T>A (n.*345T>A)
17g.42911305T>CCA399657285G6PC1c.953T>C (p.Val318Ala)
c.*345T>C (n.*345T>C)
 dbSNP gnomAD v4
17g.42911305T>GCA399657290G6PC1c.953T>G (p.Val318Gly)
c.*345T>G (n.*345T>G)
 dbSNP
17g.42911305T=CA2260697480G6PC1c.953T= (p.Val318=)
c.*345T= (n.*345T=)
17g.42911306C>ACA8587682G6PC1c.954C>A (p.Val318=)
c.*346C>A (n.*346C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911306C=CA2260697481G6PC1c.954C= (p.Val318=)
c.*346C= (n.*346C=)
17g.42911306C>GCA500229881G6PC1c.954C>G (p.Val318=)
c.*346C>G (n.*346C>G)
17g.42911306C>TCA8587681G6PC1c.954C>T (p.Val318=)
c.*346C>T (n.*346C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42911307G>ACA8587683G6PC1c.955G>A (p.Glu319Lys)
c.*347G>A (n.*347G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42911307G>CCA399657298G6PC1c.955G>C (p.Glu319Gln)
c.*347G>C (n.*347G>C)
17g.42911307G=CA2260697482G6PC1c.955G= (p.Glu319=)
c.*347G= (n.*347G=)
17g.42911307G>TCA399657300G6PC1c.955G>T (p.Glu319Ter)
c.*347G>T (n.*347G>T)
17g.42911308A>CCA399657303G6PC1c.956A>C (p.Glu319Ala)
c.*348A>C (n.*348A>C)
17g.42911308A>GCA399657306G6PC1c.956A>G (p.Glu319Gly)
c.*348A>G (n.*348A>G)
17g.42911308A>TCA399657308G6PC1c.956A>T (p.Glu319Val)
c.*348A>T (n.*348A>T)
17g.42911309G>ACA290790151G6PC1c.957G>A (p.Glu319=)
c.*349G>A (n.*349G>A)
 ClinVar dbSNP gnomAD v4
17g.42911309G>CCA399657313G6PC1c.957G>C (p.Glu319Asp)
c.*349G>C (n.*349G>C)
 dbSNP
17g.42911309G=CA2260697483G6PC1c.957G= (p.Glu319=)
c.*349G= (n.*349G=)
17g.42911309G>TCA399657312G6PC1c.957G>T (p.Glu319Asp)
c.*349G>T (n.*349G>T)
 COSMIC
17g.42911310C>ACA399657315G6PC1c.958C>A (p.Leu320Met)
c.*350C>A (n.*350C>A)
17g.42911310C>GCA399657316G6PC1c.958C>G (p.Leu320Val)
c.*350C>G (n.*350C>G)
17g.42911310C>TCA500229888G6PC1c.958C>T (p.Leu320=)
c.*350C>T (n.*350C>T)

Number of alleles fetched