Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4955213delCA2635584727ENO3c.583del (p.Val195SerfsTer?)
c.454del (p.Val152SerfsTer?)
c.*529del (n.*529del)
c.610del (p.Val204SerfsTer?)
 gnomAD v4
17g.4955211G>ACA397290222ENO3c.581G>A (p.Gly194Glu)
c.452G>A (p.Gly151Glu)
c.*527G>A (n.*527G>A)
c.608G>A (p.Gly203Glu)
 dbSNP gnomAD v4
17g.4955211G>CCA397290224ENO3c.581G>C (p.Gly194Ala)
c.452G>C (p.Gly151Ala)
c.*527G>C (n.*527G>C)
c.608G>C (p.Gly203Ala)
 dbSNP gnomAD v2
17g.4955211G=CA2244628350ENO3c.581G= (p.Gly194=)
c.452G= (p.Gly151=)
c.*527G= (n.*527G=)
c.608G= (p.Gly203=)
17g.4955211G>TCA397290226ENO3c.581G>T (p.Gly194Val)
c.452G>T (p.Gly151Val)
c.*527G>T (n.*527G>T)
c.608G>T (p.Gly203Val)
17g.4955212G>ACA497679430ENO3c.582G>A (p.Gly194=)
c.453G>A (p.Gly151=)
c.*528G>A (n.*528G>A)
c.609G>A (p.Gly203=)
 dbSNP gnomAD v2
17g.4955212G>CCA497679431ENO3c.582G>C (p.Gly194=)
c.453G>C (p.Gly151=)
c.*528G>C (n.*528G>C)
c.609G>C (p.Gly203=)
 dbSNP gnomAD v4
17g.4955212G=CA2244628354ENO3c.582G= (p.Gly194=)
c.453G= (p.Gly151=)
c.*528G= (n.*528G=)
c.609G= (p.Gly203=)
17g.4955212G>TCA497679432ENO3c.582G>T (p.Gly194=)
c.453G>T (p.Gly151=)
c.*528G>T (n.*528G>T)
c.609G>T (p.Gly203=)
 dbSNP gnomAD v3 gnomAD v4
17g.4955213G>ACA397290230ENO3c.583G>A (p.Val195Ile)
c.454G>A (p.Val152Ile)
c.*529G>A (n.*529G>A)
c.610G>A (p.Val204Ile)
 gnomAD v4
17g.4955213G>CCA397290231ENO3c.583G>C (p.Val195Leu)
c.454G>C (p.Val152Leu)
c.*529G>C (n.*529G>C)
c.610G>C (p.Val204Leu)
17g.4955213G=CA2244628359ENO3c.583G= (p.Val195=)
c.454G= (p.Val152=)
c.*529G= (n.*529G=)
c.610G= (p.Val204=)
17g.4955213G>TCA397290233ENO3c.583G>T (p.Val195Phe)
c.454G>T (p.Val152Phe)
c.*529G>T (n.*529G>T)
c.610G>T (p.Val204Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.4955213_4955216delinsGTCACA2244628358ENO3c.583_586delinsGTCA (p.Val195=)
c.454_457delinsGTCA (p.Val152=)
c.*529_*532delinsGTCA (n.*529_*532delinsGTCA)
c.610_613delinsGTCA (p.Val204=)
17g.4955214T>ACA397290236ENO3c.584T>A (p.Val195Asp)
c.455T>A (p.Val152Asp)
c.*530T>A (n.*530T>A)
c.611T>A (p.Val204Asp)
17g.4955214T>CCA397290246ENO3c.584T>C (p.Val195Ala)
c.455T>C (p.Val152Ala)
c.*530T>C (n.*530T>C)
c.611T>C (p.Val204Ala)
 gnomAD v4
17g.4955214T>GCA397290248ENO3c.584T>G (p.Val195Gly)
c.455T>G (p.Val152Gly)
c.*530T>G (n.*530T>G)
c.611T>G (p.Val204Gly)
17g.4955217_4955219delCA8316357ENO3c.587_589del (p.Ile196del)
c.458_460del (p.Ile153del)
c.*533_*535del (n.*533_*535del)
c.614_616del (p.Ile205del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955215C>ACA497679433ENO3c.585C>A (p.Val195=)
c.456C>A (p.Val152=)
c.*531C>A (n.*531C>A)
c.612C>A (p.Val204=)
17g.4955215C>GCA497679435ENO3c.585C>G (p.Val195=)
c.456C>G (p.Val152=)
c.*531C>G (n.*531C>G)
c.612C>G (p.Val204=)
17g.4955215C>TCA497679437ENO3c.585C>T (p.Val195=)
c.456C>T (p.Val152=)
c.*531C>T (n.*531C>T)
c.612C>T (p.Val204=)
17g.4955216A>CCA397290257ENO3c.586A>C (p.Ile196Leu)
c.457A>C (p.Ile153Leu)
c.*532A>C (n.*532A>C)
c.613A>C (p.Ile205Leu)
 gnomAD v4
17g.4955216A>GCA397290255ENO3c.586A>G (p.Ile196Val)
c.457A>G (p.Ile153Val)
c.*532A>G (n.*532A>G)
c.613A>G (p.Ile205Val)
 gnomAD v4
17g.4955216A>TCA397290253ENO3c.586A>T (p.Ile196Phe)
c.457A>T (p.Ile153Phe)
c.*532A>T (n.*532A>T)
c.613A>T (p.Ile205Phe)
17g.4955217T>ACA397290260ENO3c.587T>A (p.Ile196Asn)
c.458T>A (p.Ile153Asn)
c.*533T>A (n.*533T>A)
c.614T>A (p.Ile205Asn)
17g.4955217T>CCA397290266ENO3c.587T>C (p.Ile196Thr)
c.458T>C (p.Ile153Thr)
c.*533T>C (n.*533T>C)
c.614T>C (p.Ile205Thr)
17g.4955217T>GCA397290268ENO3c.587T>G (p.Ile196Ser)
c.458T>G (p.Ile153Ser)
c.*533T>G (n.*533T>G)
c.614T>G (p.Ile205Ser)
17g.4955218C>ACA497679440ENO3c.588C>A (p.Ile196=)
c.459C>A (p.Ile153=)
c.*534C>A (n.*534C>A)
c.615C>A (p.Ile205=)
17g.4955218C>GCA397290270ENO3c.588C>G (p.Ile196Met)
c.459C>G (p.Ile153Met)
c.*534C>G (n.*534C>G)
c.615C>G (p.Ile205Met)
17g.4955218C>TCA497679443ENO3c.588C>T (p.Ile196=)
c.459C>T (p.Ile153=)
c.*534C>T (n.*534C>T)
c.615C>T (p.Ile205=)
17g.4955219A=CA2244628365ENO3c.589A= (p.Lys197=)
c.460A= (p.Lys154=)
c.589A=
c.*535A= (n.*535A=)
c.616A= (p.Lys206=)
17g.4955219A>CCA397290273ENO3c.589A>C (p.Lys197Gln)
c.460A>C (p.Lys154Gln)
c.589A>C
c.*535A>C (n.*535A>C)
c.616A>C (p.Lys206Gln)
17g.4955219A>GCA397290275ENO3c.589A>G (p.Lys197Glu)
c.460A>G (p.Lys154Glu)
c.589A>G
c.*535A>G (n.*535A>G)
c.616A>G (p.Lys206Glu)
 dbSNP
17g.4955219A>TCA397290278ENO3c.589A>T (p.Lys197Ter)
c.460A>T (p.Lys154Ter)
c.589A>T
c.*535A>T (n.*535A>T)
c.616A>T (p.Lys206Ter)
17g.4955220A>CCA397290285ENO3c.590A>C (p.Lys197Thr)
c.461A>C (p.Lys154Thr)
c.590A>C
c.*536A>C (n.*536A>C)
c.617A>C (p.Lys206Thr)
17g.4955220A>GCA397290280ENO3c.590A>G (p.Lys197Arg)
c.461A>G (p.Lys154Arg)
c.590A>G
c.*536A>G (n.*536A>G)
c.617A>G (p.Lys206Arg)
17g.4955220A>TCA397290283ENO3c.590A>T (p.Lys197Met)
c.461A>T (p.Lys154Met)
c.590A>T
c.*536A>T (n.*536A>T)
c.617A>T (p.Lys206Met)
17g.4955221G>ACA497679447ENO3c.591G>A (p.Lys197=)
c.462G>A (p.Lys154=)
c.*537G>A (n.*537G>A)
c.618G>A (p.Lys206=)
 dbSNP
17g.4955221G>CCA8316358ENO3c.591G>C (p.Lys197Asn)
c.462G>C (p.Lys154Asn)
c.*537G>C (n.*537G>C)
c.618G>C (p.Lys206Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955221G=CA2244628367ENO3c.591G= (p.Lys197=)
c.462G= (p.Lys154=)
c.*537G= (n.*537G=)
c.618G= (p.Lys206=)
17g.4955221G>TCA397290289ENO3c.591G>T (p.Lys197Asn)
c.462G>T (p.Lys154Asn)
c.*537G>T (n.*537G>T)
c.618G>T (p.Lys206Asn)
17g.4955222G>ACA287175925ENO3c.592G>A (p.Ala198Thr)
c.463G>A (p.Ala155Thr)
c.*538G>A (n.*538G>A)
c.619G>A (p.Ala207Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955222G>CCA397290294ENO3c.592G>C (p.Ala198Pro)
c.463G>C (p.Ala155Pro)
c.*538G>C (n.*538G>C)
c.619G>C (p.Ala207Pro)
17g.4955222G=CA2244628369ENO3c.592G= (p.Ala198=)
c.463G= (p.Ala155=)
c.*538G= (n.*538G=)
c.619G= (p.Ala207=)
17g.4955222G>TCA397290296ENO3c.592G>T (p.Ala198Ser)
c.463G>T (p.Ala155Ser)
c.*538G>T (n.*538G>T)
c.619G>T (p.Ala207Ser)
17g.4955223C>ACA397290300ENO3c.593C>A (p.Ala198Asp)
c.464C>A (p.Ala155Asp)
c.*539C>A (n.*539C>A)
c.620C>A (p.Ala207Asp)
17g.4955223C=CA2244628372ENO3c.593C= (p.Ala198=)
c.464C= (p.Ala155=)
c.*539C= (n.*539C=)
c.620C= (p.Ala207=)
17g.4955223C>GCA397290303ENO3c.593C>G (p.Ala198Gly)
c.464C>G (p.Ala155Gly)
c.*539C>G (n.*539C>G)
c.620C>G (p.Ala207Gly)
17g.4955223C>TCA397290301ENO3c.593C>T (p.Ala198Val)
c.464C>T (p.Ala155Val)
c.*539C>T (n.*539C>T)
c.620C>T (p.Ala207Val)
 dbSNP gnomAD v3 gnomAD v4
17g.4955223_4955224delCA2537132551ENO3c.593_594del (p.Ala198GlufsTer11)
c.464_465del (p.Ala155GlufsTer11)
c.*539_*540del (n.*539_*540del)
c.620_621del (p.Ala207GlufsTer11)
17g.4955224C>ACA497679449ENO3c.594C>A (p.Ala198=)
c.465C>A (p.Ala155=)
c.*540C>A (n.*540C>A)
c.621C>A (p.Ala207=)
 COSMIC
17g.4955224C>GCA497679451ENO3c.594C>G (p.Ala198=)
c.465C>G (p.Ala155=)
c.*540C>G (n.*540C>G)
c.621C>G (p.Ala207=)
17g.4955224C>TCA497679452ENO3c.594C>T (p.Ala198=)
c.465C>T (p.Ala155=)
c.*540C>T (n.*540C>T)
c.621C>T (p.Ala207=)
17g.4955225A>CCA397290305ENO3c.595A>C (p.Lys199Gln)
c.466A>C (p.Lys156Gln)
c.*541A>C (n.*541A>C)
c.622A>C (p.Lys208Gln)
17g.4955225A>GCA397290307ENO3c.595A>G (p.Lys199Glu)
c.466A>G (p.Lys156Glu)
c.*541A>G (n.*541A>G)
c.622A>G (p.Lys208Glu)
17g.4955225A>TCA397290309ENO3c.595A>T (p.Lys199Ter)
c.466A>T (p.Lys156Ter)
c.*541A>T (n.*541A>T)
c.622A>T (p.Lys208Ter)
17g.4955226A=CA2244628375ENO3c.596A= (p.Lys199=)
c.467A= (p.Lys156=)
c.*542A= (n.*542A=)
c.623A= (p.Lys208=)
17g.4955226A>CCA397290312ENO3c.596A>C (p.Lys199Thr)
c.467A>C (p.Lys156Thr)
c.*542A>C (n.*542A>C)
c.623A>C (p.Lys208Thr)
17g.4955226A>GCA397290313ENO3c.596A>G (p.Lys199Arg)
c.467A>G (p.Lys156Arg)
c.*542A>G (n.*542A>G)
c.623A>G (p.Lys208Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.4955226A>TCA397290316ENO3c.596A>T (p.Lys199Met)
c.467A>T (p.Lys156Met)
c.*542A>T (n.*542A>T)
c.623A>T (p.Lys208Met)
17g.4955226_4955227insCGCGCA624856705ENO3c.596_597insCGCG (p.Lys199AsnfsTer12)
c.467_468insCGCG (p.Lys156AsnfsTer12)
c.*542_*543insCGCG (n.*542_*543insCGCG)
c.623_624insCGCG (p.Lys208AsnfsTer12)
 dbSNP gnomAD v2
17g.4955227G>ACA497679455ENO3c.597G>A (p.Lys199=)
c.468G>A (p.Lys156=)
c.*543G>A (n.*543G>A)
c.624G>A (p.Lys208=)
17g.4955227G>CCA397290318ENO3c.597G>C (p.Lys199Asn)
c.468G>C (p.Lys156Asn)
c.*543G>C (n.*543G>C)
c.624G>C (p.Lys208Asn)
 gnomAD v4
17g.4955227G>TCA397290321ENO3c.597G>T (p.Lys199Asn)
c.468G>T (p.Lys156Asn)
c.*543G>T (n.*543G>T)
c.624G>T (p.Lys208Asn)
17g.4955228T>ACA397290323ENO3c.598T>A (p.Tyr200Asn)
c.469T>A (p.Tyr157Asn)
c.*544T>A (n.*544T>A)
c.625T>A (p.Tyr209Asn)
17g.4955228T>CCA397290325ENO3c.598T>C (p.Tyr200His)
c.469T>C (p.Tyr157His)
c.*544T>C (n.*544T>C)
c.625T>C (p.Tyr209His)
17g.4955228T>GCA397290327ENO3c.598T>G (p.Tyr200Asp)
c.469T>G (p.Tyr157Asp)
c.*544T>G (n.*544T>G)
c.625T>G (p.Tyr209Asp)
17g.4955229A=CA2244628379ENO3c.599A= (p.Tyr200=)
c.470A= (p.Tyr157=)
c.*545A= (n.*545A=)
c.626A= (p.Tyr209=)
17g.4955229A>CCA397290331ENO3c.599A>C (p.Tyr200Ser)
c.470A>C (p.Tyr157Ser)
c.*545A>C (n.*545A>C)
c.626A>C (p.Tyr209Ser)
 dbSNP gnomAD v2
17g.4955229A>GCA397290335ENO3c.599A>G (p.Tyr200Cys)
c.470A>G (p.Tyr157Cys)
c.*545A>G (n.*545A>G)
c.626A>G (p.Tyr209Cys)
 dbSNP
17g.4955229A>TCA397290333ENO3c.599A>T (p.Tyr200Phe)
c.470A>T (p.Tyr157Phe)
c.*545A>T (n.*545A>T)
c.626A>T (p.Tyr209Phe)
17g.4955230T>ACA397290338ENO3c.600T>A (p.Tyr200Ter)
c.471T>A (p.Tyr157Ter)
c.*546T>A (n.*546T>A)
c.627T>A (p.Tyr209Ter)
17g.4955230T>CCA497679372ENO3c.600T>C (p.Tyr200=)
c.471T>C (p.Tyr157=)
c.*546T>C (n.*546T>C)
c.627T>C (p.Tyr209=)
 dbSNP gnomAD v4
17g.4955230T>GCA397290340ENO3c.600T>G (p.Tyr200Ter)
c.471T>G (p.Tyr157Ter)
c.*546T>G (n.*546T>G)
c.627T>G (p.Tyr209Ter)
17g.4955230T=CA2244628383ENO3c.600T= (p.Tyr200=)
c.471T= (p.Tyr157=)
c.*546T= (n.*546T=)
c.627T= (p.Tyr209=)
17g.4955231G>ACA8316359ENO3c.601G>A (p.Gly201Arg)
c.472G>A (p.Gly158Arg)
c.*547G>A (n.*547G>A)
c.628G>A (p.Gly210Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955231G>CCA397290344ENO3c.601G>C (p.Gly201Arg)
c.472G>C (p.Gly158Arg)
c.*547G>C (n.*547G>C)
c.628G>C (p.Gly210Arg)
17g.4955231G=CA2244628385ENO3c.601G= (p.Gly201=)
c.472G= (p.Gly158=)
c.*547G= (n.*547G=)
c.628G= (p.Gly210=)
17g.4955231G>TCA397290346ENO3c.601G>T (p.Gly201Trp)
c.472G>T (p.Gly158Trp)
c.*547G>T (n.*547G>T)
c.628G>T (p.Gly210Trp)
17g.4955232G>ACA397290349ENO3c.602G>A (p.Gly201Glu)
c.473G>A (p.Gly158Glu)
c.*548G>A (n.*548G>A)
c.629G>A (p.Gly210Glu)
 dbSNP gnomAD v4 COSMIC
17g.4955232G>CCA397290351ENO3c.602G>C (p.Gly201Ala)
c.473G>C (p.Gly158Ala)
c.*548G>C (n.*548G>C)
c.629G>C (p.Gly210Ala)
17g.4955232G=CA2244628389ENO3c.602G= (p.Gly201=)
c.473G= (p.Gly158=)
c.*548G= (n.*548G=)
c.629G= (p.Gly210=)
17g.4955232G>TCA397290353ENO3c.602G>T (p.Gly201Val)
c.473G>T (p.Gly158Val)
c.*548G>T (n.*548G>T)
c.629G>T (p.Gly210Val)
 COSMIC
17g.4955232_4955238delCA624856831ENO3c.602_608del (p.Gly201ValfsTer25)
c.473_479del (p.Gly158ValfsTer25)
c.*548_*554del (n.*548_*554del)
c.602_608del (p.Gly201ValfsTer?)
c.629_635del (p.Gly210ValfsTer25)
 gnomAD v2
17g.4955233G>ACA497679375ENO3c.603G>A (p.Gly201=)
c.474G>A (p.Gly158=)
c.*549G>A (n.*549G>A)
c.630G>A (p.Gly210=)
 dbSNP
17g.4955233G>CCA497679376ENO3c.603G>C (p.Gly201=)
c.474G>C (p.Gly158=)
c.*549G>C (n.*549G>C)
c.630G>C (p.Gly210=)
17g.4955233G=CA2244628392ENO3c.603G= (p.Gly201=)
c.474G= (p.Gly158=)
c.*549G= (n.*549G=)
c.630G= (p.Gly210=)
17g.4955233G>TCA497679377ENO3c.603G>T (p.Gly201=)
c.474G>T (p.Gly158=)
c.*549G>T (n.*549G>T)
c.630G>T (p.Gly210=)
17g.4955234A>CCA397290357ENO3c.604A>C (p.Lys202Gln)
c.475A>C (p.Lys159Gln)
c.*550A>C (n.*550A>C)
c.631A>C (p.Lys211Gln)
17g.4955234A>GCA397290359ENO3c.604A>G (p.Lys202Glu)
c.475A>G (p.Lys159Glu)
c.*550A>G (n.*550A>G)
c.631A>G (p.Lys211Glu)
17g.4955234A>TCA397290361ENO3c.604A>T (p.Lys202Ter)
c.475A>T (p.Lys159Ter)
c.*550A>T (n.*550A>T)
c.631A>T (p.Lys211Ter)
17g.4955235A=CA2244628395ENO3c.605A= (p.Lys202=)
c.476A= (p.Lys159=)
c.*551A= (n.*551A=)
c.632A= (p.Lys211=)
17g.4955235A>CCA397290368ENO3c.605A>C (p.Lys202Thr)
c.476A>C (p.Lys159Thr)
c.*551A>C (n.*551A>C)
c.632A>C (p.Lys211Thr)
17g.4955235A>GCA8316360ENO3c.605A>G (p.Lys202Arg)
c.476A>G (p.Lys159Arg)
c.*551A>G (n.*551A>G)
c.632A>G (p.Lys211Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955235A>TCA397290365ENO3c.605A>T (p.Lys202Met)
c.476A>T (p.Lys159Met)
c.*551A>T (n.*551A>T)
c.632A>T (p.Lys211Met)
17g.4955236G>ACA497679380ENO3c.606G>A (p.Lys202=)
c.477G>A (p.Lys159=)
c.*552G>A (n.*552G>A)
c.633G>A (p.Lys211=)
 gnomAD v4
17g.4955236G>CCA397290370ENO3c.606G>C (p.Lys202Asn)
c.477G>C (p.Lys159Asn)
c.*552G>C (n.*552G>C)
c.633G>C (p.Lys211Asn)
17g.4955236G>TCA397290372ENO3c.606G>T (p.Lys202Asn)
c.477G>T (p.Lys159Asn)
c.*552G>T (n.*552G>T)
c.633G>T (p.Lys211Asn)
17g.4955237G>ACA397290376ENO3c.607G>A (p.Asp203Asn)
c.478G>A (p.Asp160Asn)
c.*553G>A (n.*553G>A)
c.634G>A (p.Asp212Asn)
 gnomAD v4
17g.4955237G>CCA397290378ENO3c.607G>C (p.Asp203His)
c.478G>C (p.Asp160His)
c.*553G>C (n.*553G>C)
c.634G>C (p.Asp212His)
17g.4955237G>TCA397290380ENO3c.607G>T (p.Asp203Tyr)
c.478G>T (p.Asp160Tyr)
c.*553G>T (n.*553G>T)
c.634G>T (p.Asp212Tyr)
17g.4955238A>CCA397290384ENO3c.608A>C (p.Asp203Ala)
c.479A>C (p.Asp160Ala)
c.*554A>C (n.*554A>C)
c.635A>C (p.Asp212Ala)
17g.4955238A>GCA397290385ENO3c.608A>G (p.Asp203Gly)
c.479A>G (p.Asp160Gly)
c.*554A>G (n.*554A>G)
c.635A>G (p.Asp212Gly)
17g.4955238A>TCA397290388ENO3c.608A>T (p.Asp203Val)
c.479A>T (p.Asp160Val)
c.*554A>T (n.*554A>T)
c.635A>T (p.Asp212Val)
17g.4955239T>ACA397290390ENO3c.609T>A (p.Asp203Glu)
c.480T>A (p.Asp160Glu)
c.*555T>A (n.*555T>A)
c.636T>A (p.Asp212Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.4955239T>CCA497679381ENO3c.609T>C (p.Asp203=)
c.480T>C (p.Asp160=)
c.*555T>C (n.*555T>C)
c.636T>C (p.Asp212=)
 COSMIC
17g.4955239T>GCA397290392ENO3c.609T>G (p.Asp203Glu)
c.480T>G (p.Asp160Glu)
c.*555T>G (n.*555T>G)
c.636T>G (p.Asp212Glu)
17g.4955239T=CA2244628397ENO3c.609T= (p.Asp203=)
c.480T= (p.Asp160=)
c.*555T= (n.*555T=)
c.636T= (p.Asp212=)
17g.4955239_4955240delinsTGCA2244628398ENO3c.609_610delinsTG (p.Asp203=)
c.480_481delinsTG (p.Asp160=)
c.*555_*556delinsTG (n.*555_*556delinsTG)
c.636_637delinsTG (p.Asp212=)
17g.4955240delCA624856833ENO3c.610del (p.Ala204ProfsTer24)
c.481del (p.Ala161ProfsTer24)
c.*556del (n.*556del)
c.610del (p.Ala204ProfsTer?)
c.637del (p.Ala213ProfsTer24)
 dbSNP gnomAD v2
17g.4955240G>ACA397290394ENO3c.610G>A (p.Ala204Thr)
c.481G>A (p.Ala161Thr)
c.*556G>A (n.*556G>A)
c.637G>A (p.Ala213Thr)
 gnomAD v4
17g.4955240G>CCA397290397ENO3c.610G>C (p.Ala204Pro)
c.481G>C (p.Ala161Pro)
c.*556G>C (n.*556G>C)
c.637G>C (p.Ala213Pro)
17g.4955240G>TCA397290398ENO3c.610G>T (p.Ala204Ser)
c.481G>T (p.Ala161Ser)
c.*556G>T (n.*556G>T)
c.637G>T (p.Ala213Ser)
17g.4955241C>ACA397290404ENO3c.611C>A (p.Ala204Asp)
c.482C>A (p.Ala161Asp)
c.*557C>A (n.*557C>A)
c.638C>A (p.Ala213Asp)
17g.4955241C>GCA397290406ENO3c.611C>G (p.Ala204Gly)
c.482C>G (p.Ala161Gly)
c.*557C>G (n.*557C>G)
c.638C>G (p.Ala213Gly)
17g.4955241C>TCA397290402ENO3c.611C>T (p.Ala204Val)
c.482C>T (p.Ala161Val)
c.*557C>T (n.*557C>T)
c.638C>T (p.Ala213Val)
17g.4955242C>ACA497679386ENO3c.612C>A (p.Ala204=)
c.483C>A (p.Ala161=)
c.*558C>A (n.*558C>A)
c.639C>A (p.Ala213=)
17g.4955242C>GCA497679385ENO3c.612C>G (p.Ala204=)
c.483C>G (p.Ala161=)
c.*558C>G (n.*558C>G)
c.639C>G (p.Ala213=)
17g.4955242C>TCA497679384ENO3c.612C>T (p.Ala204=)
c.483C>T (p.Ala161=)
c.*558C>T (n.*558C>T)
c.639C>T (p.Ala213=)
 gnomAD v4
17g.4955243A=CA2244628403ENO3c.613A= (p.Thr205=)
c.484A= (p.Thr162=)
c.*559A= (n.*559A=)
c.640A= (p.Thr214=)
17g.4955243A>CCA397290410ENO3c.613A>C (p.Thr205Pro)
c.484A>C (p.Thr162Pro)
c.*559A>C (n.*559A>C)
c.640A>C (p.Thr214Pro)
17g.4955243A>GCA8316361ENO3c.613A>G (p.Thr205Ala)
c.484A>G (p.Thr162Ala)
c.*559A>G (n.*559A>G)
c.640A>G (p.Thr214Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955243A>TCA397290408ENO3c.613A>T (p.Thr205Ser)
c.484A>T (p.Thr162Ser)
c.*559A>T (n.*559A>T)
c.640A>T (p.Thr214Ser)
17g.4955244C>ACA397290413ENO3c.614C>A (p.Thr205Asn)
c.485C>A (p.Thr162Asn)
c.*560C>A (n.*560C>A)
c.641C>A (p.Thr214Asn)
17g.4955244C>GCA397290416ENO3c.614C>G (p.Thr205Ser)
c.485C>G (p.Thr162Ser)
c.*560C>G (n.*560C>G)
c.641C>G (p.Thr214Ser)
17g.4955244C>TCA397290418ENO3c.614C>T (p.Thr205Ile)
c.485C>T (p.Thr162Ile)
c.*560C>T (n.*560C>T)
c.641C>T (p.Thr214Ile)
17g.4955245C>ACA497679390ENO3c.615C>A (p.Thr205=)
c.486C>A (p.Thr162=)
c.*561C>A (n.*561C>A)
c.642C>A (p.Thr214=)
17g.4955245C=CA2244628405ENO3c.615C= (p.Thr205=)
c.486C= (p.Thr162=)
c.*561C= (n.*561C=)
c.642C= (p.Thr214=)
17g.4955245C>GCA497679391ENO3c.615C>G (p.Thr205=)
c.486C>G (p.Thr162=)
c.*561C>G (n.*561C>G)
c.642C>G (p.Thr214=)
17g.4955245C>TCA8316362ENO3c.615C>T (p.Thr205=)
c.486C>T (p.Thr162=)
c.*561C>T (n.*561C>T)
c.642C>T (p.Thr214=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955246A=CA2244628407ENO3c.616A= (p.Asn206=)
c.487A= (p.Asn163=)
c.*562A= (n.*562A=)
c.643A= (p.Asn215=)
17g.4955246A>CCA397290426ENO3c.616A>C (p.Asn206His)
c.487A>C (p.Asn163His)
c.*562A>C (n.*562A>C)
c.643A>C (p.Asn215His)
17g.4955246A>GCA397290424ENO3c.616A>G (p.Asn206Asp)
c.487A>G (p.Asn163Asp)
c.*562A>G (n.*562A>G)
c.643A>G (p.Asn215Asp)
 dbSNP gnomAD v2
17g.4955246A>TCA397290422ENO3c.616A>T (p.Asn206Tyr)
c.487A>T (p.Asn163Tyr)
c.*562A>T (n.*562A>T)
c.643A>T (p.Asn215Tyr)
17g.4955247A=CA2244628409ENO3c.617A= (p.Asn206=)
c.488A= (p.Asn163=)
c.*563A= (n.*563A=)
c.644A= (p.Asn215=)
17g.4955247A>CCA397290428ENO3c.617A>C (p.Asn206Thr)
c.488A>C (p.Asn163Thr)
c.*563A>C (n.*563A>C)
c.644A>C (p.Asn215Thr)
17g.4955247A>GCA397290430ENO3c.617A>G (p.Asn206Ser)
c.488A>G (p.Asn163Ser)
c.*563A>G (n.*563A>G)
c.644A>G (p.Asn215Ser)
 dbSNP gnomAD v2
17g.4955247A>TCA397290432ENO3c.617A>T (p.Asn206Ile)
c.488A>T (p.Asn163Ile)
c.*563A>T (n.*563A>T)
c.644A>T (p.Asn215Ile)
17g.4955248T>ACA397290436ENO3c.618T>A (p.Asn206Lys)
c.489T>A (p.Asn163Lys)
c.*564T>A (n.*564T>A)
c.645T>A (p.Asn215Lys)
 dbSNP
17g.4955248T>CCA8316363ENO3c.618T>C (p.Asn206=)
c.489T>C (p.Asn163=)
c.*564T>C (n.*564T>C)
c.645T>C (p.Asn215=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955248T>GCA397290440ENO3c.618T>G (p.Asn206Lys)
c.489T>G (p.Asn163Lys)
c.*564T>G (n.*564T>G)
c.645T>G (p.Asn215Lys)
17g.4955248T=CA2244628413ENO3c.618T= (p.Asn206=)
c.489T= (p.Asn163=)
c.*564T= (n.*564T=)
c.645T= (p.Asn215=)
17g.4955249G>ACA397290447ENO3c.619G>A (p.Val207Met)
c.490G>A (p.Val164Met)
c.*565G>A (n.*565G>A)
c.646G>A (p.Val216Met)
17g.4955249G>CCA397290443ENO3c.619G>C (p.Val207Leu)
c.490G>C (p.Val164Leu)
c.*565G>C (n.*565G>C)
c.646G>C (p.Val216Leu)
 dbSNP gnomAD v2
17g.4955249G=CA2244628417ENO3c.619G= (p.Val207=)
c.490G= (p.Val164=)
c.*565G= (n.*565G=)
c.646G= (p.Val216=)
17g.4955249G>TCA397290445ENO3c.619G>T (p.Val207Leu)
c.490G>T (p.Val164Leu)
c.*565G>T (n.*565G>T)
c.646G>T (p.Val216Leu)
17g.4955250T>ACA397290451ENO3c.620T>A (p.Val207Glu)
c.491T>A (p.Val164Glu)
c.*566T>A (n.*566T>A)
c.647T>A (p.Val216Glu)
17g.4955250T>CCA397290453ENO3c.620T>C (p.Val207Ala)
c.491T>C (p.Val164Ala)
c.*566T>C (n.*566T>C)
c.647T>C (p.Val216Ala)
17g.4955250T>GCA397290456ENO3c.620T>G (p.Val207Gly)
c.491T>G (p.Val164Gly)
c.*566T>G (n.*566T>G)
c.647T>G (p.Val216Gly)
17g.4955251G>ACA497679400ENO3c.621G>A (p.Val207=)
c.492G>A (p.Val164=)
c.*567G>A (n.*567G>A)
c.648G>A (p.Val216=)
17g.4955251G>CCA497679401ENO3c.621G>C (p.Val207=)
c.492G>C (p.Val164=)
c.*567G>C (n.*567G>C)
c.648G>C (p.Val216=)
17g.4955251G>TCA497679402ENO3c.621G>T (p.Val207=)
c.492G>T (p.Val164=)
c.*567G>T (n.*567G>T)
c.648G>T (p.Val216=)
17g.4955252G>ACA397290458ENO3c.622G>A (p.Gly208Ser)
c.493G>A (p.Gly165Ser)
c.*568G>A (n.*568G>A)
c.649G>A (p.Gly217Ser)
 gnomAD v4
17g.4955252G>CCA397290460ENO3c.622G>C (p.Gly208Arg)
c.493G>C (p.Gly165Arg)
c.*568G>C (n.*568G>C)
c.649G>C (p.Gly217Arg)
17g.4955252G>TCA397290470ENO3c.622G>T (p.Gly208Cys)
c.493G>T (p.Gly165Cys)
c.*568G>T (n.*568G>T)
c.649G>T (p.Gly217Cys)
17g.4955253G>ACA397290473ENO3c.623G>A (p.Gly208Asp)
c.494G>A (p.Gly165Asp)
c.*569G>A (n.*569G>A)
c.650G>A (p.Gly217Asp)
17g.4955253G>CCA8316364ENO3c.623G>C (p.Gly208Ala)
c.494G>C (p.Gly165Ala)
c.*569G>C (n.*569G>C)
c.650G>C (p.Gly217Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955253G=CA2244628420ENO3c.623G= (p.Gly208=)
c.494G= (p.Gly165=)
c.*569G= (n.*569G=)
c.650G= (p.Gly217=)
17g.4955253G>TCA8316365ENO3c.623G>T (p.Gly208Val)
c.494G>T (p.Gly165Val)
c.*569G>T (n.*569G>T)
c.650G>T (p.Gly217Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.4955254T>ACA497679406ENO3c.624T>A (p.Gly208=)
c.495T>A (p.Gly165=)
c.*570T>A (n.*570T>A)
c.651T>A (p.Gly217=)
17g.4955254T>CCA497679407ENO3c.624T>C (p.Gly208=)
c.495T>C (p.Gly165=)
c.*570T>C (n.*570T>C)
c.651T>C (p.Gly217=)
 dbSNP gnomAD v2
17g.4955254T>GCA497679408ENO3c.624T>G (p.Gly208=)
c.495T>G (p.Gly165=)
c.*570T>G (n.*570T>G)
c.651T>G (p.Gly217=)
 dbSNP
17g.4955254T=CA2244628422ENO3c.624T= (p.Gly208=)
c.495T= (p.Gly165=)
c.*570T= (n.*570T=)
c.651T= (p.Gly217=)
17g.4955255G>ACA397290481ENO3c.625G>A (p.Asp209Asn)
c.496G>A (p.Asp166Asn)
c.*571G>A (n.*571G>A)
c.652G>A (p.Asp218Asn)
17g.4955255G>CCA397290484ENO3c.625G>C (p.Asp209His)
c.496G>C (p.Asp166His)
c.*571G>C (n.*571G>C)
c.652G>C (p.Asp218His)
17g.4955255G>TCA397290486ENO3c.625G>T (p.Asp209Tyr)
c.496G>T (p.Asp166Tyr)
c.*571G>T (n.*571G>T)
c.652G>T (p.Asp218Tyr)
17g.4955255dupCA8316366ENO3c.625dup (p.Asp209GlyfsTer2)
c.496dup (p.Asp166GlyfsTer2)
c.*571dup (n.*571dup)
c.652dup (p.Asp218GlyfsTer2)
 dbSNP ExAC gnomAD v2
17g.4955256A>CCA397290489ENO3c.626A>C (p.Asp209Ala)
c.497A>C (p.Asp166Ala)
c.*572A>C (n.*572A>C)
c.653A>C (p.Asp218Ala)
17g.4955256A>GCA397290493ENO3c.626A>G (p.Asp209Gly)
c.497A>G (p.Asp166Gly)
c.*572A>G (n.*572A>G)
c.653A>G (p.Asp218Gly)
17g.4955256A>TCA397290491ENO3c.626A>T (p.Asp209Val)
c.497A>T (p.Asp166Val)
c.*572A>T (n.*572A>T)
c.653A>T (p.Asp218Val)
17g.4955257T>ACA397290496ENO3c.627T>A (p.Asp209Glu)
c.498T>A (p.Asp166Glu)
c.*573T>A (n.*573T>A)
c.654T>A (p.Asp218Glu)
17g.4955257T>CCA497679412ENO3c.627T>C (p.Asp209=)
c.498T>C (p.Asp166=)
c.*573T>C (n.*573T>C)
c.654T>C (p.Asp218=)
 dbSNP gnomAD v2
17g.4955257T>GCA397290498ENO3c.627T>G (p.Asp209Glu)
c.498T>G (p.Asp166Glu)
c.*573T>G (n.*573T>G)
c.654T>G (p.Asp218Glu)
17g.4955257T=CA2244628425ENO3c.627T= (p.Asp209=)
c.498T= (p.Asp166=)
c.*573T= (n.*573T=)
c.654T= (p.Asp218=)
17g.4955258G>ACA397290501ENO3c.628G>A (p.Glu210Lys)
c.499G>A (p.Glu167Lys)
c.*574G>A (n.*574G>A)
c.655G>A (p.Glu219Lys)
17g.4955258G>CCA397290502ENO3c.628G>C (p.Glu210Gln)
c.499G>C (p.Glu167Gln)
c.*574G>C (n.*574G>C)
c.655G>C (p.Glu219Gln)
17g.4955258G>TCA397290503ENO3c.628G>T (p.Glu210Ter)
c.499G>T (p.Glu167Ter)
c.*574G>T (n.*574G>T)
c.655G>T (p.Glu219Ter)
17g.4955259A>CCA397290504ENO3c.629A>C (p.Glu210Ala)
c.500A>C (p.Glu167Ala)
c.*575A>C (n.*575A>C)
c.656A>C (p.Glu219Ala)
17g.4955259A>GCA397290505ENO3c.629A>G (p.Glu210Gly)
c.500A>G (p.Glu167Gly)
c.*575A>G (n.*575A>G)
c.656A>G (p.Glu219Gly)
 gnomAD v4
17g.4955259A>TCA397290506ENO3c.629A>T (p.Glu210Val)
c.500A>T (p.Glu167Val)
c.*575A>T (n.*575A>T)
c.656A>T (p.Glu219Val)
17g.4955260A=CA2244628426ENO3c.630A= (p.Glu210=)
c.501A= (p.Glu167=)
c.*576A= (n.*576A=)
c.657A= (p.Glu219=)
17g.4955260A>CCA397290507ENO3c.630A>C (p.Glu210Asp)
c.501A>C (p.Glu167Asp)
c.*576A>C (n.*576A>C)
c.657A>C (p.Glu219Asp)
17g.4955260A>GCA497679414ENO3c.630A>G (p.Glu210=)
c.501A>G (p.Glu167=)
c.*576A>G (n.*576A>G)
c.657A>G (p.Glu219=)
 dbSNP gnomAD v2
17g.4955260A>TCA397290508ENO3c.630A>T (p.Glu210Asp)
c.501A>T (p.Glu167Asp)
c.*576A>T (n.*576A>T)
c.657A>T (p.Glu219Asp)
17g.4955261G>ACA397290509ENO3c.631G>A (p.Gly211Ser)
c.502G>A (p.Gly168Ser)
c.*577G>A (n.*577G>A)
c.658G>A (p.Gly220Ser)
17g.4955261G>CCA397290510ENO3c.631G>C (p.Gly211Arg)
c.502G>C (p.Gly168Arg)
c.*577G>C (n.*577G>C)
c.658G>C (p.Gly220Arg)
17g.4955261G>TCA397290511ENO3c.631G>T (p.Gly211Cys)
c.502G>T (p.Gly168Cys)
c.*577G>T (n.*577G>T)
c.658G>T (p.Gly220Cys)
17g.4955262G>ACA397290513ENO3c.632G>A (p.Gly211Asp)
c.503G>A (p.Gly168Asp)
c.*578G>A (n.*578G>A)
c.659G>A (p.Gly220Asp)
17g.4955262G>CCA397290512ENO3c.632G>C (p.Gly211Ala)
c.503G>C (p.Gly168Ala)
c.*578G>C (n.*578G>C)
c.659G>C (p.Gly220Ala)
17g.4955262G=CA2244628427ENO3c.632G= (p.Gly211=)
c.503G= (p.Gly168=)
c.*578G= (n.*578G=)
c.659G= (p.Gly220=)
17g.4955262G>TCA8316367ENO3c.632G>T (p.Gly211Val)
c.503G>T (p.Gly168Val)
c.*578G>T (n.*578G>T)
c.659G>T (p.Gly220Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955263T>ACA497679417ENO3c.633T>A (p.Gly211=)
c.504T>A (p.Gly168=)
c.*579T>A (n.*579T>A)
c.660T>A (p.Gly220=)
17g.4955263T>CCA497679421ENO3c.633T>C (p.Gly211=)
c.504T>C (p.Gly168=)
c.*579T>C (n.*579T>C)
c.660T>C (p.Gly220=)
 dbSNP
17g.4955263T>GCA497679419ENO3c.633T>G (p.Gly211=)
c.504T>G (p.Gly168=)
c.*579T>G (n.*579T>G)
c.660T>G (p.Gly220=)
17g.4955263T=CA2244628428ENO3c.633T= (p.Gly211=)
c.504T= (p.Gly168=)
c.*579T= (n.*579T=)
c.660T= (p.Gly220=)
17g.4955264G>ACA397290514ENO3c.634G>A (p.Gly212Ser)
c.505G>A (p.Gly169Ser)
c.*580G>A (n.*580G>A)
c.661G>A (p.Gly221Ser)
17g.4955264G>CCA397290515ENO3c.634G>C (p.Gly212Arg)
c.505G>C (p.Gly169Arg)
c.*580G>C (n.*580G>C)
c.661G>C (p.Gly221Arg)
17g.4955264G>TCA397290516ENO3c.634G>T (p.Gly212Cys)
c.505G>T (p.Gly169Cys)
c.*580G>T (n.*580G>T)
c.661G>T (p.Gly221Cys)
17g.4955265G>ACA397290517ENO3c.635G>A (p.Gly212Asp)
c.506G>A (p.Gly169Asp)
c.*581G>A (n.*581G>A)
c.662G>A (p.Gly221Asp)
17g.4955265G>CCA397290518ENO3c.635G>C (p.Gly212Ala)
c.506G>C (p.Gly169Ala)
c.*581G>C (n.*581G>C)
c.662G>C (p.Gly221Ala)
17g.4955265G=CA2244628429ENO3c.635G= (p.Gly212=)
c.506G= (p.Gly169=)
c.*581G= (n.*581G=)
c.662G= (p.Gly221=)
17g.4955265G>TCA397290520ENO3c.635G>T (p.Gly212Val)
c.506G>T (p.Gly169Val)
c.*581G>T (n.*581G>T)
c.662G>T (p.Gly221Val)
 dbSNP gnomAD v4
17g.4955266C>ACA497679426ENO3c.636C>A (p.Gly212=)
c.507C>A (p.Gly169=)
c.*582C>A (n.*582C>A)
c.663C>A (p.Gly221=)
 gnomAD v4
17g.4955266C=CA2244628430ENO3c.636C= (p.Gly212=)
c.507C= (p.Gly169=)
c.*582C= (n.*582C=)
c.663C= (p.Gly221=)
17g.4955266C>GCA497679427ENO3c.636C>G (p.Gly212=)
c.507C>G (p.Gly169=)
c.*582C>G (n.*582C>G)
c.663C>G (p.Gly221=)
17g.4955266C>TCA497679428ENO3c.636C>T (p.Gly212=)
c.507C>T (p.Gly169=)
c.*582C>T (n.*582C>T)
c.663C>T (p.Gly221=)
 dbSNP
17g.4955267T>ACA397290523ENO3c.637T>A (p.Phe213Ile)
c.508T>A (p.Phe170Ile)
c.*583T>A (n.*583T>A)
c.637T>A
c.664T>A (p.Phe222Ile)
17g.4955267T>CCA397290525ENO3c.637T>C (p.Phe213Leu)
c.508T>C (p.Phe170Leu)
c.*583T>C (n.*583T>C)
c.637T>C
c.664T>C (p.Phe222Leu)
17g.4955267T>GCA397290528ENO3c.637T>G (p.Phe213Val)
c.508T>G (p.Phe170Val)
c.*583T>G (n.*583T>G)
c.637T>G
c.664T>G (p.Phe222Val)
17g.4955268T>ACA397290532ENO3c.638T>A (p.Phe213Tyr)
c.509T>A (p.Phe170Tyr)
c.*584T>A (n.*584T>A)
c.638T>A
c.665T>A (p.Phe222Tyr)
17g.4955268T>CCA397290533ENO3c.638T>C (p.Phe213Ser)
c.509T>C (p.Phe170Ser)
c.*584T>C (n.*584T>C)
c.638T>C
c.665T>C (p.Phe222Ser)
17g.4955268T>GCA397290535ENO3c.638T>G (p.Phe213Cys)
c.509T>G (p.Phe170Cys)
c.*584T>G (n.*584T>G)
c.638T>G
c.665T>G (p.Phe222Cys)
17g.4955268_4955273delinsTCGCACCA2244628431ENO3c.638_643delinsTCGCAC (p.Phe213=)
c.509_514delinsTCGCAC (p.Phe170=)
c.*584_*589delinsTCGCAC (n.*584_*589delinsTCGCAC)
c.665_670delinsTCGCAC (p.Phe222=)
17g.4955269C>ACA287175950ENO3c.639C>A (p.Phe213Leu)
c.510C>A (p.Phe170Leu)
c.*585C>A (n.*585C>A)
c.666C>A (p.Phe222Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4955269C=CA2244628432ENO3c.639C= (p.Phe213=)
c.510C= (p.Phe170=)
c.*585C= (n.*585C=)
c.666C= (p.Phe222=)
17g.4955269C>GCA397290541ENO3c.639C>G (p.Phe213Leu)
c.510C>G (p.Phe170Leu)
c.*585C>G (n.*585C>G)
c.666C>G (p.Phe222Leu)
17g.4955269C>TCA8316368ENO3c.639C>T (p.Phe213=)
c.510C>T (p.Phe170=)
c.*585C>T (n.*585C>T)
c.666C>T (p.Phe222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4955270_4955274delCA772695530ENO3c.640_644del (p.Ala214GlnfsTer7)
c.511_515del (p.Ala171GlnfsTer7)
c.*586_*590del (n.*586_*590del)
c.667_671del (p.Ala223GlnfsTer7)
 dbSNP gnomAD v3 gnomAD v4
17g.4955270G>ACA397290545ENO3c.640G>A (p.Ala214Thr)
c.511G>A (p.Ala171Thr)
c.*586G>A (n.*586G>A)
c.667G>A (p.Ala223Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4955270G>CCA397290550ENO3c.640G>C (p.Ala214Pro)
c.511G>C (p.Ala171Pro)
c.*586G>C (n.*586G>C)
c.667G>C (p.Ala223Pro)
 gnomAD v4
17g.4955270G=CA2244628433ENO3c.640G= (p.Ala214=)
c.511G= (p.Ala171=)
c.*586G= (n.*586G=)
c.667G= (p.Ala223=)
17g.4955270G>TCA397290547ENO3c.640G>T (p.Ala214Ser)
c.511G>T (p.Ala171Ser)
c.*586G>T (n.*586G>T)
c.667G>T (p.Ala223Ser)
 COSMIC
17g.4955271C>ACA397290554ENO3c.641C>A (p.Ala214Glu)
c.512C>A (p.Ala171Glu)
c.*587C>A (n.*587C>A)
c.668C>A (p.Ala223Glu)
17g.4955271C=CA2244628434ENO3c.641C= (p.Ala214=)
c.512C= (p.Ala171=)
c.*587C= (n.*587C=)
c.668C= (p.Ala223=)
17g.4955271C>GCA397290556ENO3c.641C>G (p.Ala214Gly)
c.512C>G (p.Ala171Gly)
c.*587C>G (n.*587C>G)
c.668C>G (p.Ala223Gly)
17g.4955271C>TCA397290558ENO3c.641C>T (p.Ala214Val)
c.512C>T (p.Ala171Val)
c.*587C>T (n.*587C>T)
c.668C>T (p.Ala223Val)
 dbSNP gnomAD v4
17g.4955271_4955272insGCCGACA2558840170ENO3c.641_642insGCCGA (p.Ile217ProfsTer13)
c.512_513insGCCGA (p.Ile174ProfsTer13)
c.*587_*588insGCCGA (n.*587_*588insGCCGA)
c.668_669insGCCGA (p.Ile226ProfsTer13)
17g.4955272A=CA2244628435ENO3c.642A= (p.Ala214=)
c.513A= (p.Ala171=)
c.*588A= (n.*588A=)
c.669A= (p.Ala223=)
17g.4955272A>CCA497679434ENO3c.642A>C (p.Ala214=)
c.513A>C (p.Ala171=)
c.*588A>C (n.*588A>C)
c.669A>C (p.Ala223=)
17g.4955272A>GCA497679436ENO3c.642A>G (p.Ala214=)
c.513A>G (p.Ala171=)
c.*588A>G (n.*588A>G)
c.669A>G (p.Ala223=)
 dbSNP gnomAD v2
17g.4955272A>TCA497679438ENO3c.642A>T (p.Ala214=)
c.513A>T (p.Ala171=)
c.*588A>T (n.*588A>T)
c.669A>T (p.Ala223=)
17g.4955273C>ACA397290561ENO3c.643C>A (p.Pro215Thr)
c.514C>A (p.Pro172Thr)
c.*589C>A (n.*589C>A)
c.670C>A (p.Pro224Thr)
17g.4955273C=CA2244628436ENO3c.643C= (p.Pro215=)
c.514C= (p.Pro172=)
c.*589C= (n.*589C=)
c.670C= (p.Pro224=)
17g.4955273C>GCA397290563ENO3c.643C>G (p.Pro215Ala)
c.514C>G (p.Pro172Ala)
c.*589C>G (n.*589C>G)
c.670C>G (p.Pro224Ala)
 dbSNP gnomAD v4
17g.4955273C>TCA397290565ENO3c.643C>T (p.Pro215Ser)
c.514C>T (p.Pro172Ser)
c.*589C>T (n.*589C>T)
c.670C>T (p.Pro224Ser)
 dbSNP gnomAD v4
17g.4955274C>ACA8316369ENO3c.644C>A (p.Pro215His)
c.515C>A (p.Pro172His)
c.*590C>A (n.*590C>A)
c.671C>A (p.Pro224His)
 dbSNP ExAC gnomAD v2
17g.4955274C=CA2244628437ENO3c.644C= (p.Pro215=)
c.515C= (p.Pro172=)
c.*590C= (n.*590C=)
c.671C= (p.Pro224=)
17g.4955274C>GCA397290569ENO3c.644C>G (p.Pro215Arg)
c.515C>G (p.Pro172Arg)
c.*590C>G (n.*590C>G)
c.671C>G (p.Pro224Arg)
17g.4955274C>TCA397290572ENO3c.644C>T (p.Pro215Leu)
c.515C>T (p.Pro172Leu)
c.*590C>T (n.*590C>T)
c.671C>T (p.Pro224Leu)
17g.4955275C>ACA497679441ENO3c.645C>A (p.Pro215=)
c.516C>A (p.Pro172=)
c.*591C>A (n.*591C>A)
c.672C>A (p.Pro224=)
17g.4955275C>GCA497679442ENO3c.645C>G (p.Pro215=)
c.516C>G (p.Pro172=)
c.*591C>G (n.*591C>G)
c.672C>G (p.Pro224=)
17g.4955275C>TCA497679444ENO3c.645C>T (p.Pro215=)
c.516C>T (p.Pro172=)
c.*591C>T (n.*591C>T)
c.672C>T (p.Pro224=)
17g.4955276A=CA2244628438ENO3c.646A= (p.Asn216=)
c.517A= (p.Asn173=)
c.*592A= (n.*592A=)
c.673A= (p.Asn225=)
17g.4955276A>CCA397290574ENO3c.646A>C (p.Asn216His)
c.517A>C (p.Asn173His)
c.*592A>C (n.*592A>C)
c.673A>C (p.Asn225His)
17g.4955276A>GCA397290578ENO3c.646A>G (p.Asn216Asp)
c.517A>G (p.Asn173Asp)
c.*592A>G (n.*592A>G)
c.673A>G (p.Asn225Asp)
 dbSNP
17g.4955276A>TCA397290580ENO3c.646A>T (p.Asn216Tyr)
c.517A>T (p.Asn173Tyr)
c.*592A>T (n.*592A>T)
c.673A>T (p.Asn225Tyr)
 dbSNP gnomAD v3 gnomAD v4
17g.4955277A=CA2244628439ENO3c.647A= (p.Asn216=)
c.518A= (p.Asn173=)
c.*593A= (n.*593A=)
c.674A= (p.Asn225=)
17g.4955277A>CCA397290587ENO3c.647A>C (p.Asn216Thr)
c.518A>C (p.Asn173Thr)
c.*593A>C (n.*593A>C)
c.674A>C (p.Asn225Thr)
17g.4955277A>GCA8316370ENO3c.647A>G (p.Asn216Ser)
c.518A>G (p.Asn173Ser)
c.*593A>G (n.*593A>G)
c.674A>G (p.Asn225Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955277A>TCA397290584ENO3c.647A>T (p.Asn216Ile)
c.518A>T (p.Asn173Ile)
c.*593A>T (n.*593A>T)
c.674A>T (p.Asn225Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.4955278C>ACA397290590ENO3c.648C>A (p.Asn216Lys)
c.519C>A (p.Asn173Lys)
c.*594C>A (n.*594C>A)
c.675C>A (p.Asn225Lys)
17g.4955278C=CA2244628441ENO3c.648C= (p.Asn216=)
c.519C= (p.Asn173=)
c.*594C= (n.*594C=)
c.675C= (p.Asn225=)
17g.4955278C>GCA397290592ENO3c.648C>G (p.Asn216Lys)
c.519C>G (p.Asn173Lys)
c.*594C>G (n.*594C>G)
c.675C>G (p.Asn225Lys)
17g.4955278C>TCA287175969ENO3c.648C>T (p.Asn216=)
c.519C>T (p.Asn173=)
c.*594C>T (n.*594C>T)
c.675C>T (p.Asn225=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955279A=CA2244628442ENO3c.649A= (p.Ile217=)
c.520A= (p.Ile174=)
c.*595A= (n.*595A=)
c.676A= (p.Ile226=)
17g.4955279A>CCA397290595ENO3c.649A>C (p.Ile217Leu)
c.520A>C (p.Ile174Leu)
c.*595A>C (n.*595A>C)
c.676A>C (p.Ile226Leu)
17g.4955279A>GCA397290596ENO3c.649A>G (p.Ile217Val)
c.520A>G (p.Ile174Val)
c.*595A>G (n.*595A>G)
c.676A>G (p.Ile226Val)
 dbSNP gnomAD v2 gnomAD v4
17g.4955279A>TCA397290597ENO3c.649A>T (p.Ile217Phe)
c.520A>T (p.Ile174Phe)
c.*595A>T (n.*595A>T)
c.676A>T (p.Ile226Phe)
17g.4955280T>ACA397290600ENO3c.650T>A (p.Ile217Asn)
c.521T>A (p.Ile174Asn)
c.*596T>A (n.*596T>A)
c.677T>A (p.Ile226Asn)
17g.4955280T>CCA397290602ENO3c.650T>C (p.Ile217Thr)
c.521T>C (p.Ile174Thr)
c.*596T>C (n.*596T>C)
c.677T>C (p.Ile226Thr)
17g.4955280T>GCA397290604ENO3c.650T>G (p.Ile217Ser)
c.521T>G (p.Ile174Ser)
c.*596T>G (n.*596T>G)
c.677T>G (p.Ile226Ser)
17g.4955281C>ACA497679450ENO3c.651C>A (p.Ile217=)
c.522C>A (p.Ile174=)
c.*597C>A (n.*597C>A)
c.678C>A (p.Ile226=)
17g.4955281C=CA2244628443ENO3c.651C= (p.Ile217=)
c.522C= (p.Ile174=)
c.*597C= (n.*597C=)
c.678C= (p.Ile226=)
17g.4955281C>GCA397290607ENO3c.651C>G (p.Ile217Met)
c.522C>G (p.Ile174Met)
c.*597C>G (n.*597C>G)
c.678C>G (p.Ile226Met)
17g.4955281C>TCA497679453ENO3c.651C>T (p.Ile217=)
c.522C>T (p.Ile174=)
c.*597C>T (n.*597C>T)
c.678C>T (p.Ile226=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955282delCA2635584814ENO3c.652del (p.Leu218TrpfsTer10)
c.523del (p.Leu175TrpfsTer10)
c.*598del (n.*598del)
c.679del (p.Leu227TrpfsTer10)
 gnomAD v4
17g.4955282C>ACA397290610ENO3c.652C>A (p.Leu218Met)
c.523C>A (p.Leu175Met)
c.*598C>A (n.*598C>A)
c.679C>A (p.Leu227Met)
17g.4955282C=CA2244628444ENO3c.652C= (p.Leu218=)
c.523C= (p.Leu175=)
c.*598C= (n.*598C=)
c.679C= (p.Leu227=)
17g.4955282C>GCA397290611ENO3c.652C>G (p.Leu218Val)
c.523C>G (p.Leu175Val)
c.*598C>G (n.*598C>G)
c.679C>G (p.Leu227Val)
 dbSNP gnomAD v3 gnomAD v4
17g.4955282C>TCA497679454ENO3c.652C>T (p.Leu218=)
c.523C>T (p.Leu175=)
c.*598C>T (n.*598C>T)
c.679C>T (p.Leu227=)
17g.4955283T>ACA397290619ENO3c.653T>A (p.Leu218Gln)
c.524T>A (p.Leu175Gln)
c.*599T>A (n.*599T>A)
c.680T>A (p.Leu227Gln)
17g.4955283T>CCA397290616ENO3c.653T>C (p.Leu218Pro)
c.524T>C (p.Leu175Pro)
c.*599T>C (n.*599T>C)
c.680T>C (p.Leu227Pro)
17g.4955283T>GCA397290614ENO3c.653T>G (p.Leu218Arg)
c.524T>G (p.Leu175Arg)
c.*599T>G (n.*599T>G)
c.680T>G (p.Leu227Arg)
17g.4955284G>ACA497679456ENO3c.654G>A (p.Leu218=)
c.525G>A (p.Leu175=)
c.*600G>A (n.*600G>A)
c.681G>A (p.Leu227=)
 gnomAD v4
17g.4955284G>CCA497679457ENO3c.654G>C (p.Leu218=)
c.525G>C (p.Leu175=)
c.*600G>C (n.*600G>C)
c.681G>C (p.Leu227=)
17g.4955284G=CA2244628445ENO3c.654G= (p.Leu218=)
c.525G= (p.Leu175=)
c.*600G= (n.*600G=)
c.681G= (p.Leu227=)
17g.4955284G>TCA8316371ENO3c.654G>T (p.Leu218=)
c.525G>T (p.Leu175=)
c.*600G>T (n.*600G>T)
c.681G>T (p.Leu227=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955285G>ACA397290623ENO3c.655G>A (p.Glu219Lys)
c.526G>A (p.Glu176Lys)
c.*601G>A (n.*601G>A)
c.682G>A (p.Glu228Lys)
17g.4955285G>CCA397290625ENO3c.655G>C (p.Glu219Gln)
c.526G>C (p.Glu176Gln)
c.*601G>C (n.*601G>C)
c.682G>C (p.Glu228Gln)
17g.4955285G>TCA397290627ENO3c.655G>T (p.Glu219Ter)
c.526G>T (p.Glu176Ter)
c.*601G>T (n.*601G>T)
c.682G>T (p.Glu228Ter)
17g.4955286A>CCA397290630ENO3c.656A>C (p.Glu219Ala)
c.527A>C (p.Glu176Ala)
c.*602A>C (n.*602A>C)
c.683A>C (p.Glu228Ala)
17g.4955286A>GCA397290632ENO3c.656A>G (p.Glu219Gly)
c.527A>G (p.Glu176Gly)
c.*602A>G (n.*602A>G)
c.683A>G (p.Glu228Gly)
17g.4955286A>TCA397290634ENO3c.656A>T (p.Glu219Val)
c.527A>T (p.Glu176Val)
c.*602A>T (n.*602A>T)
c.683A>T (p.Glu228Val)
17g.4955287G>ACA8316372ENO3c.657G>A (p.Glu219=)
c.528G>A (p.Glu176=)
c.*603G>A (n.*603G>A)
c.684G>A (p.Glu228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955287G>CCA397290637ENO3c.657G>C (p.Glu219Asp)
c.528G>C (p.Glu176Asp)
c.*603G>C (n.*603G>C)
c.684G>C (p.Glu228Asp)
17g.4955287G=CA2244628446ENO3c.657G= (p.Glu219=)
c.528G= (p.Glu176=)
c.*603G= (n.*603G=)
c.684G= (p.Glu228=)
17g.4955287G>TCA397290640ENO3c.657G>T (p.Glu219Asp)
c.528G>T (p.Glu176Asp)
c.*603G>T (n.*603G>T)
c.684G>T (p.Glu228Asp)
17g.4955288A=CA2244628447ENO3c.658A= (p.Asn220=)
c.529A= (p.Asn177=)
c.*604A= (n.*604A=)
c.685A= (p.Asn229=)
17g.4955288A>CCA397290643ENO3c.658A>C (p.Asn220His)
c.529A>C (p.Asn177His)
c.*604A>C (n.*604A>C)
c.685A>C (p.Asn229His)
17g.4955288A>GCA397290645ENO3c.658A>G (p.Asn220Asp)
c.529A>G (p.Asn177Asp)
c.*604A>G (n.*604A>G)
c.685A>G (p.Asn229Asp)
 dbSNP gnomAD v4
17g.4955288A>TCA397290647ENO3c.658A>T (p.Asn220Tyr)
c.529A>T (p.Asn177Tyr)
c.*604A>T (n.*604A>T)
c.685A>T (p.Asn229Tyr)
17g.4955289A>CCA397290655ENO3c.659A>C (p.Asn220Thr)
c.530A>C (p.Asn177Thr)
c.*605A>C (n.*605A>C)
c.686A>C (p.Asn229Thr)
17g.4955289A>GCA397290650ENO3c.659A>G (p.Asn220Ser)
c.530A>G (p.Asn177Ser)
c.*605A>G (n.*605A>G)
c.686A>G (p.Asn229Ser)
17g.4955289A>TCA397290653ENO3c.659A>T (p.Asn220Ile)
c.530A>T (p.Asn177Ile)
c.*605A>T (n.*605A>T)
c.686A>T (p.Asn229Ile)
17g.4955290C>ACA397290657ENO3c.660C>A (p.Asn220Lys)
c.531C>A (p.Asn177Lys)
c.*606C>A (n.*606C>A)
c.687C>A (p.Asn229Lys)
17g.4955290C>GCA397290660ENO3c.660C>G (p.Asn220Lys)
c.531C>G (p.Asn177Lys)
c.*606C>G (n.*606C>G)
c.687C>G (p.Asn229Lys)
17g.4955290C>TCA497679460ENO3c.660C>T (p.Asn220=)
c.531C>T (p.Asn177=)
c.*606C>T (n.*606C>T)
c.687C>T (p.Asn229=)
17g.4955290_4955293delinsCAATCA2244628448ENO3c.660_663delinsCAAT (p.Asn220=)
c.531_534delinsCAAT (p.Asn177=)
c.*606_*609delinsCAAT (n.*606_*609delinsCAAT)
c.687_690delinsCAAT (p.Asn229=)
17g.4955291A=CA2244628449ENO3c.661A= (p.Asn221=)
c.532A= (p.Asn178=)
c.*607A= (n.*607A=)
c.688A= (p.Asn230=)
17g.4955291A>CCA397290663ENO3c.661A>C (p.Asn221His)
c.532A>C (p.Asn178His)
c.*607A>C (n.*607A>C)
c.688A>C (p.Asn230His)
 dbSNP gnomAD v4
17g.4955291A>GCA287175983ENO3c.661A>G (p.Asn221Asp)
c.532A>G (p.Asn178Asp)
c.*607A>G (n.*607A>G)
c.688A>G (p.Asn230Asp)
 dbSNP
17g.4955291A>TCA397290667ENO3c.661A>T (p.Asn221Tyr)
c.532A>T (p.Asn178Tyr)
c.*607A>T (n.*607A>T)
c.688A>T (p.Asn230Tyr)
17g.4955291_4955293delCA8316373ENO3c.661_663del (p.Asn221del)
c.532_534del (p.Asn178del)
c.*607_*609del (n.*607_*609del)
c.688_690del (p.Asn230del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955292A=CA2244628451ENO3c.662A= (p.Asn221=)
c.533A= (p.Asn178=)
c.*608A= (n.*608A=)
c.689A= (p.Asn230=)
17g.4955292A>CCA397290671ENO3c.662A>C (p.Asn221Thr)
c.533A>C (p.Asn178Thr)
c.*608A>C (n.*608A>C)
c.689A>C (p.Asn230Thr)
17g.4955292A>GCA287175984ENO3c.662A>G (p.Asn221Ser)
c.533A>G (p.Asn178Ser)
c.*608A>G (n.*608A>G)
c.689A>G (p.Asn230Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4955292A>TCA397290674ENO3c.662A>T (p.Asn221Ile)
c.533A>T (p.Asn178Ile)
c.*608A>T (n.*608A>T)
c.689A>T (p.Asn230Ile)
17g.4955293delCA2808297892ENO3c.663del (p.Asn221LysfsTer7)
c.534del (p.Asn178LysfsTer7)
c.*609del (n.*609del)
c.690del (p.Asn230LysfsTer7)
17g.4955293T>ACA397290676ENO3c.663T>A (p.Asn221Lys)
c.534T>A (p.Asn178Lys)
c.*609T>A (n.*609T>A)
c.690T>A (p.Asn230Lys)
17g.4955293T>CCA497679464ENO3c.663T>C (p.Asn221=)
c.534T>C (p.Asn178=)
c.*609T>C (n.*609T>C)
c.690T>C (p.Asn230=)
17g.4955293T>GCA397290679ENO3c.663T>G (p.Asn221Lys)
c.534T>G (p.Asn178Lys)
c.*609T>G (n.*609T>G)
c.690T>G (p.Asn230Lys)
17g.4955294G>ACA397290686ENO3c.664G>A (p.Glu222Lys)
c.535G>A (p.Glu179Lys)
c.*610G>A (n.*610G>A)
c.691G>A (p.Glu231Lys)
17g.4955294G>CCA397290685ENO3c.664G>C (p.Glu222Gln)
c.535G>C (p.Glu179Gln)
c.*610G>C (n.*610G>C)
c.691G>C (p.Glu231Gln)
 dbSNP
17g.4955294G=CA2244628454ENO3c.664G= (p.Glu222=)
c.535G= (p.Glu179=)
c.*610G= (n.*610G=)
c.691G= (p.Glu231=)
17g.4955294G>TCA397290682ENO3c.664G>T (p.Glu222Ter)
c.535G>T (p.Glu179Ter)
c.*610G>T (n.*610G>T)
c.691G>T (p.Glu231Ter)
17g.4955295delCA2808297893ENO3c.665del (p.Glu222GlyfsTer6)
c.536del (p.Glu179GlyfsTer6)
c.*611del (n.*611del)
c.692del (p.Glu231GlyfsTer6)
17g.4955295A>CCA397290690ENO3c.665A>C (p.Glu222Ala)
c.536A>C (p.Glu179Ala)
c.*611A>C (n.*611A>C)
c.692A>C (p.Glu231Ala)
17g.4955295A>GCA397290694ENO3c.665A>G (p.Glu222Gly)
c.536A>G (p.Glu179Gly)
c.*611A>G (n.*611A>G)
c.692A>G (p.Glu231Gly)
17g.4955295A>TCA397290692ENO3c.665A>T (p.Glu222Val)
c.536A>T (p.Glu179Val)
c.*611A>T (n.*611A>T)
c.692A>T (p.Glu231Val)
17g.4955296G>ACA497679466ENO3c.666G>A (p.Glu222=)
c.537G>A (p.Glu179=)
c.*612G>A (n.*612G>A)
c.693G>A (p.Glu231=)
 dbSNP gnomAD v3 gnomAD v4
17g.4955296G>CCA397290697ENO3c.666G>C (p.Glu222Asp)
c.537G>C (p.Glu179Asp)
c.*612G>C (n.*612G>C)
c.693G>C (p.Glu231Asp)
17g.4955296G=CA2244628457ENO3c.666G= (p.Glu222=)
c.537G= (p.Glu179=)
c.*612G= (n.*612G=)
c.693G= (p.Glu231=)
17g.4955296G>TCA397290699ENO3c.666G>T (p.Glu222Asp)
c.537G>T (p.Glu179Asp)
c.*612G>T (n.*612G>T)
c.693G>T (p.Glu231Asp)
17g.4955297G>ACA397290703ENO3c.667G>A (p.Ala223Thr)
c.538G>A (p.Ala180Thr)
c.*613G>A (n.*613G>A)
c.694G>A (p.Ala232Thr)
 gnomAD v4
17g.4955297G>CCA397290705ENO3c.667G>C (p.Ala223Pro)
c.538G>C (p.Ala180Pro)
c.*613G>C (n.*613G>C)
c.694G>C (p.Ala232Pro)
17g.4955297G>TCA397290707ENO3c.667G>T (p.Ala223Ser)
c.538G>T (p.Ala180Ser)
c.*613G>T (n.*613G>T)
c.694G>T (p.Ala232Ser)
17g.4955298_4955406delCA2808297894ENO3c.667+1_668-1del
c.538+1_539-1del
c.*613+1_*614-1del
c.694+1_695-1del
17g.4955298G>ACA397290710ENO3c.667+1G>A (n.667+1G>A)
c.538+1G>A (n.538+1G>A)
c.*613+1G>A (n.*613+1G>A)
c.694+1G>A (n.694+1G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4955298G>CCA287175985ENO3c.667+1G>C (n.667+1G>C)
c.538+1G>C (n.538+1G>C)
c.*613+1G>C (n.*613+1G>C)
c.694+1G>C (n.694+1G>C)
 dbSNP gnomAD v4
17g.4955298G=CA2244628458ENO3c.667+1G= (n.667+1G=)
c.538+1G= (n.538+1G=)
c.*613+1G= (n.*613+1G=)
c.694+1G= (n.694+1G=)
17g.4955298G>TCA397290715ENO3c.667+1G>T (n.667+1G>T)
c.538+1G>T (n.538+1G>T)
c.*613+1G>T (n.*613+1G>T)
c.694+1G>T (n.694+1G>T)
17g.4955299T>ACA397290718ENO3c.667+2T>A (n.667+2T>A)
c.538+2T>A (n.538+2T>A)
c.*613+2T>A (n.*613+2T>A)
c.694+2T>A (n.694+2T>A)
 gnomAD v4
17g.4955299T>CCA397290720ENO3c.667+2T>C (n.667+2T>C)
c.538+2T>C (n.538+2T>C)
c.*613+2T>C (n.*613+2T>C)
c.694+2T>C (n.694+2T>C)
17g.4955299T>GCA397290723ENO3c.667+2T>G (n.667+2T>G)
c.538+2T>G (n.538+2T>G)
c.*613+2T>G (n.*613+2T>G)
c.694+2T>G (n.694+2T>G)
17g.4955302G>ACA2576136662ENO3c.667+5G>A (n.667+5G>A)
c.538+5G>A (n.538+5G>A)
c.*613+5G>A (n.*613+5G>A)
c.694+5G>A (n.694+5G>A)
 gnomAD v4
17g.4955303delCA2635584829ENO3c.667+6del (n.667+6del)
c.538+6del (n.538+6del)
c.*613+6del (n.*613+6del)
c.694+6del (n.694+6del)
 gnomAD v4
17g.4955304G>ACA2635584830ENO3c.667+7G>A (n.667+7G>A)
c.538+7G>A (n.538+7G>A)
c.*613+7G>A (n.*613+7G>A)
c.694+7G>A (n.694+7G>A)
 gnomAD v4
17g.4955304_4955305delinsGCCA2244628460ENO3c.667+7_667+8delinsGC (n.667+7_667+8delinsGC)
c.538+7_538+8delinsGC (n.538+7_538+8delinsGC)
c.*613+7_*613+8delinsGC (n.*613+7_*613+8delinsGC)
c.694+7_694+8delinsGC (n.694+7_694+8delinsGC)
17g.4955305delCA2244628462ENO3c.667+8del (n.667+8del)
c.538+8del (n.538+8del)
c.*613+8del (n.*613+8del)
c.694+8del (n.694+8del)
 dbSNP
17g.4955305C=CA2244628461ENO3c.667+8C= (n.667+8C=)
c.538+8C= (n.538+8C=)
c.*613+8C= (n.*613+8C=)
c.694+8C= (n.694+8C=)
17g.4955305C>TCA2244628464ENO3c.667+8C>T (n.667+8C>T)
c.538+8C>T (n.538+8C>T)
c.*613+8C>T (n.*613+8C>T)
c.694+8C>T (n.694+8C>T)
 dbSNP gnomAD v4
17g.4955306_4955307insTTTTTTAATCA980979717ENO3c.667+9_667+10insTTTTTTAAT (n.667+9_667+10insTTTTTTAAT)
c.538+9_538+10insTTTTTTAAT (n.538+9_538+10insTTTTTTAAT)
c.*613+9_*613+10insTTTTTTAAT (n.*613+9_*613+10insTTTTTTAAT)
c.694+9_694+10insTTTTTTAAT (n.694+9_694+10insTTTTTTAAT)
 dbSNP gnomAD v3 gnomAD v4
17g.4955307_4955308delinsGACA2244628466ENO3c.667+10_667+11delinsGA (n.667+10_667+11delinsGA)
c.538+10_538+11delinsGA (n.538+10_538+11delinsGA)
c.*613+10_*613+11delinsGA (n.*613+10_*613+11delinsGA)
c.694+10_694+11delinsGA (n.694+10_694+11delinsGA)
17g.4955308delCA8316374ENO3c.667+11del (n.667+11del)
c.538+11del (n.538+11del)
c.*613+11del (n.*613+11del)
c.694+11del (n.694+11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955308_4955309delinsAGCA2244628468ENO3c.667+11_667+12delinsAG (n.667+11_667+12delinsAG)
c.538+11_538+12delinsAG (n.538+11_538+12delinsAG)
c.*613+11_*613+12delinsAG (n.*613+11_*613+12delinsAG)
c.694+11_694+12delinsAG (n.694+11_694+12delinsAG)
17g.4955309delCA624856838ENO3c.667+12del (n.667+12del)
c.538+12del (n.538+12del)
c.*613+12del (n.*613+12del)
c.694+12del (n.694+12del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955309G>ACA8316375ENO3c.667+12G>A (n.667+12G>A)
c.538+12G>A (n.538+12G>A)
c.*613+12G>A (n.*613+12G>A)
c.694+12G>A (n.694+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955309G=CA2244628471ENO3c.667+12G= (n.667+12G=)
c.538+12G= (n.538+12G=)
c.*613+12G= (n.*613+12G=)
c.694+12G= (n.694+12G=)
17g.4955310C>ACA2635584834ENO3c.667+13C>A (n.667+13C>A)
c.538+13C>A (n.538+13C>A)
c.*613+13C>A (n.*613+13C>A)
c.694+13C>A (n.694+13C>A)
 gnomAD v4
17g.4955310C=CA2244628472ENO3c.667+13C= (n.667+13C=)
c.538+13C= (n.538+13C=)
c.*613+13C= (n.*613+13C=)
c.694+13C= (n.694+13C=)
17g.4955310C>TCA980979725ENO3c.667+13C>T (n.667+13C>T)
c.538+13C>T (n.538+13C>T)
c.*613+13C>T (n.*613+13C>T)
c.694+13C>T (n.694+13C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4955311A=CA2244628475ENO3c.667+14A= (n.667+14A=)
c.538+14A= (n.538+14A=)
c.*613+14A= (n.*613+14A=)
c.694+14A= (n.694+14A=)
17g.4955311A>CCA624856839ENO3c.667+14A>C (n.667+14A>C)
c.538+14A>C (n.538+14A>C)
c.*613+14A>C (n.*613+14A>C)
c.694+14A>C (n.694+14A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4955311A>GCA2808297895ENO3c.667+14A>G (n.667+14A>G)
c.538+14A>G (n.538+14A>G)
c.*613+14A>G (n.*613+14A>G)
c.694+14A>G (n.694+14A>G)
17g.4955311_4955312delinsACCA2244628477ENO3c.667+14_667+15delinsAC (n.667+14_667+15delinsAC)
c.538+14_538+15delinsAC (n.538+14_538+15delinsAC)
c.*613+14_*613+15delinsAC (n.*613+14_*613+15delinsAC)
c.694+14_694+15delinsAC (n.694+14_694+15delinsAC)

Number of alleles fetched