Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98395899C>ACA347832025CNGA3c.729C>A (p.Tyr243Ter)
c.741C>A (p.Tyr247Ter)
c.675C>A (p.Tyr225Ter)
c.840C>A (p.Tyr280Ter)
c.894C>A (p.Tyr298Ter)
2g.98395899C=CA1273419670CNGA3c.729C= (p.Tyr243=)
c.741C= (p.Tyr247=)
c.675C= (p.Tyr225=)
c.840C= (p.Tyr280=)
c.894C= (p.Tyr298=)
2g.98395899C>GCA347832026CNGA3c.729C>G (p.Tyr243Ter)
c.741C>G (p.Tyr247Ter)
c.675C>G (p.Tyr225Ter)
c.840C>G (p.Tyr280Ter)
c.894C>G (p.Tyr298Ter)
2g.98395899C>TCA427568168CNGA3c.729C>T (p.Tyr243=)
c.741C>T (p.Tyr247=)
c.675C>T (p.Tyr225=)
c.840C>T (p.Tyr280=)
c.894C>T (p.Tyr298=)
 dbSNP gnomAD v2 gnomAD v4
2g.98395900A>CCA347832027CNGA3c.730A>C (p.Lys244Gln)
c.742A>C (p.Lys248Gln)
c.676A>C (p.Lys226Gln)
c.841A>C (p.Lys281Gln)
c.895A>C (p.Lys299Gln)
2g.98395900A>GCA347832028CNGA3c.730A>G (p.Lys244Glu)
c.742A>G (p.Lys248Glu)
c.676A>G (p.Lys226Glu)
c.841A>G (p.Lys281Glu)
c.895A>G (p.Lys299Glu)
2g.98395900A>TCA347832029CNGA3c.730A>T (p.Lys244Ter)
c.742A>T (p.Lys248Ter)
c.676A>T (p.Lys226Ter)
c.841A>T (p.Lys281Ter)
c.895A>T (p.Lys299Ter)
2g.98395901A=CA1273419671CNGA3c.731A= (p.Lys244=)
c.743A= (p.Lys248=)
c.677A= (p.Lys226=)
c.842A= (p.Lys281=)
c.896A= (p.Lys299=)
2g.98395901A>CCA347832030CNGA3c.731A>C (p.Lys244Thr)
c.743A>C (p.Lys248Thr)
c.677A>C (p.Lys226Thr)
c.842A>C (p.Lys281Thr)
c.896A>C (p.Lys299Thr)
2g.98395901A>GCA347832031CNGA3c.731A>G (p.Lys244Arg)
c.743A>G (p.Lys248Arg)
c.677A>G (p.Lys226Arg)
c.842A>G (p.Lys281Arg)
c.896A>G (p.Lys299Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395901A>TCA347832032CNGA3c.731A>T (p.Lys244Met)
c.743A>T (p.Lys248Met)
c.677A>T (p.Lys226Met)
c.842A>T (p.Lys281Met)
c.896A>T (p.Lys299Met)
2g.98395902G>ACA52635184CNGA3c.732G>A (p.Lys244=)
c.744G>A (p.Lys248=)
c.678G>A (p.Lys226=)
c.843G>A (p.Lys281=)
c.897G>A (p.Lys299=)
 dbSNP
2g.98395902G>CCA347832033CNGA3c.732G>C (p.Lys244Asn)
c.744G>C (p.Lys248Asn)
c.678G>C (p.Lys226Asn)
c.843G>C (p.Lys281Asn)
c.897G>C (p.Lys299Asn)
2g.98395902G=CA1273419672CNGA3c.732G= (p.Lys244=)
c.744G= (p.Lys248=)
c.678G= (p.Lys226=)
c.843G= (p.Lys281=)
c.897G= (p.Lys299=)
2g.98395902G>TCA347832034CNGA3c.732G>T (p.Lys244Asn)
c.744G>T (p.Lys248Asn)
c.678G>T (p.Lys226Asn)
c.843G>T (p.Lys281Asn)
c.897G>T (p.Lys299Asn)
2g.98395903A>CCA347832035CNGA3c.733A>C (p.Thr245Pro)
c.745A>C (p.Thr249Pro)
c.679A>C (p.Thr227Pro)
c.844A>C (p.Thr282Pro)
c.898A>C (p.Thr300Pro)
2g.98395903A>GCA347832037CNGA3c.733A>G (p.Thr245Ala)
c.745A>G (p.Thr249Ala)
c.679A>G (p.Thr227Ala)
c.844A>G (p.Thr282Ala)
c.898A>G (p.Thr300Ala)
2g.98395903A>TCA347832036CNGA3c.733A>T (p.Thr245Ser)
c.745A>T (p.Thr249Ser)
c.679A>T (p.Thr227Ser)
c.844A>T (p.Thr282Ser)
c.898A>T (p.Thr300Ser)
2g.98395904C>ACA347832038CNGA3c.734C>A (p.Thr245Lys)
c.746C>A (p.Thr249Lys)
c.680C>A (p.Thr227Lys)
c.845C>A (p.Thr282Lys)
c.899C>A (p.Thr300Lys)
2g.98395904C=CA1273419673CNGA3c.734C= (p.Thr245=)
c.746C= (p.Thr249=)
c.680C= (p.Thr227=)
c.845C= (p.Thr282=)
c.899C= (p.Thr300=)
2g.98395904C>GCA347832039CNGA3c.734C>G (p.Thr245Arg)
c.746C>G (p.Thr249Arg)
c.680C>G (p.Thr227Arg)
c.845C>G (p.Thr282Arg)
c.899C>G (p.Thr300Arg)
2g.98395904C>TCA1793883CNGA3c.734C>T (p.Thr245Met)
c.746C>T (p.Thr249Met)
c.680C>T (p.Thr227Met)
c.845C>T (p.Thr282Met)
c.899C>T (p.Thr300Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395905G>ACA1793884CNGA3c.735G>A (p.Thr245=)
c.747G>A (p.Thr249=)
c.681G>A (p.Thr227=)
c.846G>A (p.Thr282=)
c.900G>A (p.Thr300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395905G>CCA427568195CNGA3c.735G>C (p.Thr245=)
c.747G>C (p.Thr249=)
c.681G>C (p.Thr227=)
c.846G>C (p.Thr282=)
c.900G>C (p.Thr300=)
 gnomAD v4
2g.98395905G=CA1273419674CNGA3c.735G= (p.Thr245=)
c.747G= (p.Thr249=)
c.681G= (p.Thr227=)
c.846G= (p.Thr282=)
c.900G= (p.Thr300=)
2g.98395905G>TCA427568197CNGA3c.735G>T (p.Thr245=)
c.747G>T (p.Thr249=)
c.681G>T (p.Thr227=)
c.846G>T (p.Thr282=)
c.900G>T (p.Thr300=)
 dbSNP gnomAD v4
2g.98395906A>CCA347832042CNGA3c.736A>C (p.Thr246Pro)
c.748A>C (p.Thr250Pro)
c.682A>C (p.Thr228Pro)
c.847A>C (p.Thr283Pro)
c.901A>C (p.Thr301Pro)
2g.98395906A>GCA347832040CNGA3c.736A>G (p.Thr246Ala)
c.748A>G (p.Thr250Ala)
c.682A>G (p.Thr228Ala)
c.847A>G (p.Thr283Ala)
c.901A>G (p.Thr301Ala)
2g.98395906A>TCA347832041CNGA3c.736A>T (p.Thr246Ser)
c.748A>T (p.Thr250Ser)
c.682A>T (p.Thr228Ser)
c.847A>T (p.Thr283Ser)
c.901A>T (p.Thr301Ser)
2g.98395907C>ACA52635191CNGA3c.737C>A (p.Thr246Asn)
c.749C>A (p.Thr250Asn)
c.683C>A (p.Thr228Asn)
c.848C>A (p.Thr283Asn)
c.902C>A (p.Thr301Asn)
 dbSNP
2g.98395907C=CA1273419675CNGA3c.737C= (p.Thr246=)
c.749C= (p.Thr250=)
c.683C= (p.Thr228=)
c.848C= (p.Thr283=)
c.902C= (p.Thr301=)
2g.98395907C>GCA347832043CNGA3c.737C>G (p.Thr246Ser)
c.749C>G (p.Thr250Ser)
c.683C>G (p.Thr228Ser)
c.848C>G (p.Thr283Ser)
c.902C>G (p.Thr301Ser)
2g.98395907C>TCA347832044CNGA3c.737C>T (p.Thr246Ile)
c.749C>T (p.Thr250Ile)
c.683C>T (p.Thr228Ile)
c.848C>T (p.Thr283Ile)
c.902C>T (p.Thr301Ile)
2g.98395908C>ACA427568209CNGA3c.738C>A (p.Thr246=)
c.750C>A (p.Thr250=)
c.684C>A (p.Thr228=)
c.849C>A (p.Thr283=)
c.903C>A (p.Thr301=)
2g.98395908C>GCA427568213CNGA3c.738C>G (p.Thr246=)
c.750C>G (p.Thr250=)
c.684C>G (p.Thr228=)
c.849C>G (p.Thr283=)
c.903C>G (p.Thr301=)
2g.98395908C>TCA427568211CNGA3c.738C>T (p.Thr246=)
c.750C>T (p.Thr250=)
c.684C>T (p.Thr228=)
c.849C>T (p.Thr283=)
c.903C>T (p.Thr301=)
 gnomAD v4
2g.98395909A>CCA347832045CNGA3c.739A>C (p.Thr247Pro)
c.751A>C (p.Thr251Pro)
c.685A>C (p.Thr229Pro)
c.850A>C (p.Thr284Pro)
c.904A>C (p.Thr302Pro)
2g.98395909A>GCA347832046CNGA3c.739A>G (p.Thr247Ala)
c.751A>G (p.Thr251Ala)
c.685A>G (p.Thr229Ala)
c.850A>G (p.Thr284Ala)
c.904A>G (p.Thr302Ala)
2g.98395909A>TCA347832047CNGA3c.739A>T (p.Thr247Ser)
c.751A>T (p.Thr251Ser)
c.685A>T (p.Thr229Ser)
c.850A>T (p.Thr284Ser)
c.904A>T (p.Thr302Ser)
2g.98395910C>ACA347832048CNGA3c.740C>A (p.Thr247Lys)
c.752C>A (p.Thr251Lys)
c.686C>A (p.Thr229Lys)
c.851C>A (p.Thr284Lys)
c.905C>A (p.Thr302Lys)
2g.98395910C=CA1273419676CNGA3c.740C= (p.Thr247=)
c.752C= (p.Thr251=)
c.686C= (p.Thr229=)
c.851C= (p.Thr284=)
c.905C= (p.Thr302=)
2g.98395910C>GCA347832049CNGA3c.740C>G (p.Thr247Arg)
c.752C>G (p.Thr251Arg)
c.686C>G (p.Thr229Arg)
c.851C>G (p.Thr284Arg)
c.905C>G (p.Thr302Arg)
2g.98395910C>TCA247589CNGA3c.740C>T (p.Thr247Met)
c.752C>T (p.Thr251Met)
c.686C>T (p.Thr229Met)
c.851C>T (p.Thr284Met)
c.905C>T (p.Thr302Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395911G>ACA1793885CNGA3c.741G>A (p.Thr247=)
c.753G>A (p.Thr251=)
c.687G>A (p.Thr229=)
c.852G>A (p.Thr284=)
c.906G>A (p.Thr302=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395911G>CCA427568225CNGA3c.741G>C (p.Thr247=)
c.753G>C (p.Thr251=)
c.687G>C (p.Thr229=)
c.852G>C (p.Thr284=)
c.906G>C (p.Thr302=)
2g.98395911G=CA1273419677CNGA3c.741G= (p.Thr247=)
c.753G= (p.Thr251=)
c.687G= (p.Thr229=)
c.852G= (p.Thr284=)
c.906G= (p.Thr302=)
2g.98395911G>TCA427568226CNGA3c.741G>T (p.Thr247=)
c.753G>T (p.Thr251=)
c.687G>T (p.Thr229=)
c.852G>T (p.Thr284=)
c.906G>T (p.Thr302=)
 gnomAD v4
2g.98395912C>ACA347832052CNGA3c.742C>A (p.Gln248Lys)
c.754C>A (p.Gln252Lys)
c.688C>A (p.Gln230Lys)
c.853C>A (p.Gln285Lys)
c.907C>A (p.Gln303Lys)
2g.98395912C>GCA347832050CNGA3c.742C>G (p.Gln248Glu)
c.754C>G (p.Gln252Glu)
c.688C>G (p.Gln230Glu)
c.853C>G (p.Gln285Glu)
c.907C>G (p.Gln303Glu)
2g.98395912C>TCA347832051CNGA3c.742C>T (p.Gln248Ter)
c.754C>T (p.Gln252Ter)
c.688C>T (p.Gln230Ter)
c.853C>T (p.Gln285Ter)
c.907C>T (p.Gln303Ter)
 ClinVar dbSNP gnomAD v4
2g.98395913A>CCA347832053CNGA3c.743A>C (p.Gln248Pro)
c.755A>C (p.Gln252Pro)
c.689A>C (p.Gln230Pro)
c.854A>C (p.Gln285Pro)
c.908A>C (p.Gln303Pro)
2g.98395913A>GCA347832054CNGA3c.743A>G (p.Gln248Arg)
c.755A>G (p.Gln252Arg)
c.689A>G (p.Gln230Arg)
c.854A>G (p.Gln285Arg)
c.908A>G (p.Gln303Arg)
 ClinVar dbSNP
2g.98395913A>TCA347832055CNGA3c.743A>T (p.Gln248Leu)
c.755A>T (p.Gln252Leu)
c.689A>T (p.Gln230Leu)
c.854A>T (p.Gln285Leu)
c.908A>T (p.Gln303Leu)
2g.98395914G>ACA427568238CNGA3c.744G>A (p.Gln248=)
c.756G>A (p.Gln252=)
c.690G>A (p.Gln230=)
c.855G>A (p.Gln285=)
c.909G>A (p.Gln303=)
2g.98395914G>CCA347832056CNGA3c.744G>C (p.Gln248His)
c.756G>C (p.Gln252His)
c.690G>C (p.Gln230His)
c.855G>C (p.Gln285His)
c.909G>C (p.Gln303His)
2g.98395914G>TCA347832057CNGA3c.744G>T (p.Gln248His)
c.756G>T (p.Gln252His)
c.690G>T (p.Gln230His)
c.855G>T (p.Gln285His)
c.909G>T (p.Gln303His)
2g.98395915T>ACA347832058CNGA3c.745T>A (p.Phe249Ile)
c.757T>A (p.Phe253Ile)
c.691T>A (p.Phe231Ile)
c.856T>A (p.Phe286Ile)
c.910T>A (p.Phe304Ile)
2g.98395915T>CCA347832059CNGA3c.745T>C (p.Phe249Leu)
c.757T>C (p.Phe253Leu)
c.691T>C (p.Phe231Leu)
c.856T>C (p.Phe286Leu)
c.910T>C (p.Phe304Leu)
2g.98395915T>GCA347832060CNGA3c.745T>G (p.Phe249Val)
c.757T>G (p.Phe253Val)
c.691T>G (p.Phe231Val)
c.856T>G (p.Phe286Val)
c.910T>G (p.Phe304Val)
2g.98395916T>ACA347832061CNGA3c.746T>A (p.Phe249Tyr)
c.758T>A (p.Phe253Tyr)
c.692T>A (p.Phe231Tyr)
c.857T>A (p.Phe286Tyr)
c.911T>A (p.Phe304Tyr)
2g.98395916T>CCA347832062CNGA3c.746T>C (p.Phe249Ser)
c.758T>C (p.Phe253Ser)
c.692T>C (p.Phe231Ser)
c.857T>C (p.Phe286Ser)
c.911T>C (p.Phe304Ser)
 ClinVar gnomAD v4
2g.98395916T>GCA347832063CNGA3c.746T>G (p.Phe249Cys)
c.758T>G (p.Phe253Cys)
c.692T>G (p.Phe231Cys)
c.857T>G (p.Phe286Cys)
c.911T>G (p.Phe304Cys)
2g.98395917C>ACA347832065CNGA3c.747C>A (p.Phe249Leu)
c.759C>A (p.Phe253Leu)
c.693C>A (p.Phe231Leu)
c.858C>A (p.Phe286Leu)
c.912C>A (p.Phe304Leu)
2g.98395917C>GCA347832064CNGA3c.747C>G (p.Phe249Leu)
c.759C>G (p.Phe253Leu)
c.693C>G (p.Phe231Leu)
c.858C>G (p.Phe286Leu)
c.912C>G (p.Phe304Leu)
2g.98395917C>TCA427568251CNGA3c.747C>T (p.Phe249=)
c.759C>T (p.Phe253=)
c.693C>T (p.Phe231=)
c.858C>T (p.Phe286=)
c.912C>T (p.Phe304=)
2g.98395918A>CCA347832066CNGA3c.748A>C (p.Lys250Gln)
c.760A>C (p.Lys254Gln)
c.694A>C (p.Lys232Gln)
c.859A>C (p.Lys287Gln)
c.913A>C (p.Lys305Gln)
2g.98395918A>GCA347832067CNGA3c.748A>G (p.Lys250Glu)
c.760A>G (p.Lys254Glu)
c.694A>G (p.Lys232Glu)
c.859A>G (p.Lys287Glu)
c.913A>G (p.Lys305Glu)
2g.98395918A>TCA347832068CNGA3c.748A>T (p.Lys250Ter)
c.760A>T (p.Lys254Ter)
c.694A>T (p.Lys232Ter)
c.859A>T (p.Lys287Ter)
c.913A>T (p.Lys305Ter)
2g.98395919A>CCA347832069CNGA3c.749A>C (p.Lys250Thr)
c.761A>C (p.Lys254Thr)
c.695A>C (p.Lys232Thr)
c.860A>C (p.Lys287Thr)
c.914A>C (p.Lys305Thr)
2g.98395919A>GCA347832070CNGA3c.749A>G (p.Lys250Arg)
c.761A>G (p.Lys254Arg)
c.695A>G (p.Lys232Arg)
c.860A>G (p.Lys287Arg)
c.914A>G (p.Lys305Arg)
 gnomAD v4
2g.98395919A>TCA347832071CNGA3c.749A>T (p.Lys250Met)
c.761A>T (p.Lys254Met)
c.695A>T (p.Lys232Met)
c.860A>T (p.Lys287Met)
c.914A>T (p.Lys305Met)
2g.98395920G>ACA427568262CNGA3c.750G>A (p.Lys250=)
c.762G>A (p.Lys254=)
c.696G>A (p.Lys232=)
c.861G>A (p.Lys287=)
c.915G>A (p.Lys305=)
 dbSNP gnomAD v2 gnomAD v4
2g.98395920G>CCA347832073CNGA3c.750G>C (p.Lys250Asn)
c.762G>C (p.Lys254Asn)
c.696G>C (p.Lys232Asn)
c.861G>C (p.Lys287Asn)
c.915G>C (p.Lys305Asn)
2g.98395920G=CA1273419678CNGA3c.750G= (p.Lys250=)
c.762G= (p.Lys254=)
c.696G= (p.Lys232=)
c.861G= (p.Lys287=)
c.915G= (p.Lys305=)
2g.98395920G>TCA347832072CNGA3c.750G>T (p.Lys250Asn)
c.762G>T (p.Lys254Asn)
c.696G>T (p.Lys232Asn)
c.861G>T (p.Lys287Asn)
c.915G>T (p.Lys305Asn)
2g.98395921C>ACA347832074CNGA3c.751C>A (p.Leu251Met)
c.763C>A (p.Leu255Met)
c.697C>A (p.Leu233Met)
c.862C>A (p.Leu288Met)
c.916C>A (p.Leu306Met)
2g.98395921C>GCA347832075CNGA3c.751C>G (p.Leu251Val)
c.763C>G (p.Leu255Val)
c.697C>G (p.Leu233Val)
c.862C>G (p.Leu288Val)
c.916C>G (p.Leu306Val)
2g.98395921C>TCA427568269CNGA3c.751C>T (p.Leu251=)
c.763C>T (p.Leu255=)
c.697C>T (p.Leu233=)
c.862C>T (p.Leu288=)
c.916C>T (p.Leu306=)
2g.98395922T>ACA347832076CNGA3c.752T>A (p.Leu251Gln)
c.764T>A (p.Leu255Gln)
c.698T>A (p.Leu233Gln)
c.863T>A (p.Leu288Gln)
c.917T>A (p.Leu306Gln)
2g.98395922T>CCA347832077CNGA3c.752T>C (p.Leu251Pro)
c.764T>C (p.Leu255Pro)
c.698T>C (p.Leu233Pro)
c.863T>C (p.Leu288Pro)
c.917T>C (p.Leu306Pro)
2g.98395922T>GCA347832078CNGA3c.752T>G (p.Leu251Arg)
c.764T>G (p.Leu255Arg)
c.698T>G (p.Leu233Arg)
c.863T>G (p.Leu288Arg)
c.917T>G (p.Leu306Arg)
2g.98395923G>ACA52635198CNGA3c.753G>A (p.Leu251=)
c.765G>A (p.Leu255=)
c.699G>A (p.Leu233=)
c.864G>A (p.Leu288=)
c.918G>A (p.Leu306=)
 dbSNP
2g.98395923G>CCA427568275CNGA3c.753G>C (p.Leu251=)
c.765G>C (p.Leu255=)
c.699G>C (p.Leu233=)
c.864G>C (p.Leu288=)
c.918G>C (p.Leu306=)
 COSMIC
2g.98395923G=CA1273419679CNGA3c.753G= (p.Leu251=)
c.765G= (p.Leu255=)
c.699G= (p.Leu233=)
c.864G= (p.Leu288=)
c.918G= (p.Leu306=)
2g.98395923G>TCA427568278CNGA3c.753G>T (p.Leu251=)
c.765G>T (p.Leu255=)
c.699G>T (p.Leu233=)
c.864G>T (p.Leu288=)
c.918G>T (p.Leu306=)
 ClinVar dbSNP
2g.98395924G>ACA347832079CNGA3c.754G>A (p.Asp252Asn)
c.766G>A (p.Asp256Asn)
c.700G>A (p.Asp234Asn)
c.865G>A (p.Asp289Asn)
c.919G>A (p.Asp307Asn)
2g.98395924G>CCA1793886CNGA3c.754G>C (p.Asp252His)
c.766G>C (p.Asp256His)
c.700G>C (p.Asp234His)
c.865G>C (p.Asp289His)
c.919G>C (p.Asp307His)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.98395924G=CA1273419680CNGA3c.754G= (p.Asp252=)
c.766G= (p.Asp256=)
c.700G= (p.Asp234=)
c.865G= (p.Asp289=)
c.919G= (p.Asp307=)
2g.98395924G>TCA347832080CNGA3c.754G>T (p.Asp252Tyr)
c.766G>T (p.Asp256Tyr)
c.700G>T (p.Asp234Tyr)
c.865G>T (p.Asp289Tyr)
c.919G>T (p.Asp307Tyr)
2g.98395925A=CA1273419681CNGA3c.755A= (p.Asp252=)
c.767A= (p.Asp256=)
c.701A= (p.Asp234=)
c.866A= (p.Asp289=)
c.920A= (p.Asp307=)
2g.98395925A>CCA347832081CNGA3c.755A>C (p.Asp252Ala)
c.767A>C (p.Asp256Ala)
c.701A>C (p.Asp234Ala)
c.866A>C (p.Asp289Ala)
c.920A>C (p.Asp307Ala)
2g.98395925A>GCA347832082CNGA3c.755A>G (p.Asp252Gly)
c.767A>G (p.Asp256Gly)
c.701A>G (p.Asp234Gly)
c.866A>G (p.Asp289Gly)
c.920A>G (p.Asp307Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395925A>TCA347832083CNGA3c.755A>T (p.Asp252Val)
c.767A>T (p.Asp256Val)
c.701A>T (p.Asp234Val)
c.866A>T (p.Asp289Val)
c.920A>T (p.Asp307Val)
2g.98395926T>ACA347832084CNGA3c.756T>A (p.Asp252Glu)
c.768T>A (p.Asp256Glu)
c.702T>A (p.Asp234Glu)
c.867T>A (p.Asp289Glu)
c.921T>A (p.Asp307Glu)
2g.98395926T>CCA427568291CNGA3c.756T>C (p.Asp252=)
c.768T>C (p.Asp256=)
c.702T>C (p.Asp234=)
c.867T>C (p.Asp289=)
c.921T>C (p.Asp307=)
2g.98395926T>GCA347832085CNGA3c.756T>G (p.Asp252Glu)
c.768T>G (p.Asp256Glu)
c.702T>G (p.Asp234Glu)
c.867T>G (p.Asp289Glu)
c.921T>G (p.Asp307Glu)
2g.98395927G>ACA347832086CNGA3c.757G>A (p.Val253Met)
c.769G>A (p.Val257Met)
c.703G>A (p.Val235Met)
c.868G>A (p.Val290Met)
c.922G>A (p.Val308Met)
2g.98395927G>CCA347832087CNGA3c.757G>C (p.Val253Leu)
c.769G>C (p.Val257Leu)
c.703G>C (p.Val235Leu)
c.868G>C (p.Val290Leu)
c.922G>C (p.Val308Leu)
2g.98395927G=CA1273419682CNGA3c.757G= (p.Val253=)
c.769G= (p.Val257=)
c.703G= (p.Val235=)
c.868G= (p.Val290=)
c.922G= (p.Val308=)
2g.98395927G>TCA347832088CNGA3c.757G>T (p.Val253Leu)
c.769G>T (p.Val257Leu)
c.703G>T (p.Val235Leu)
c.868G>T (p.Val290Leu)
c.922G>T (p.Val308Leu)
 dbSNP gnomAD v4
2g.98395928T>ACA347832089CNGA3c.758T>A (p.Val253Glu)
c.770T>A (p.Val257Glu)
c.704T>A (p.Val235Glu)
c.869T>A (p.Val290Glu)
c.923T>A (p.Val308Glu)
2g.98395928T>CCA347832090CNGA3c.758T>C (p.Val253Ala)
c.770T>C (p.Val257Ala)
c.704T>C (p.Val235Ala)
c.869T>C (p.Val290Ala)
c.923T>C (p.Val308Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.98395928T>GCA347832091CNGA3c.758T>G (p.Val253Gly)
c.770T>G (p.Val257Gly)
c.704T>G (p.Val235Gly)
c.869T>G (p.Val290Gly)
c.923T>G (p.Val308Gly)
2g.98395928T=CA1273419683CNGA3c.758T= (p.Val253=)
c.770T= (p.Val257=)
c.704T= (p.Val235=)
c.869T= (p.Val290=)
c.923T= (p.Val308=)
2g.98395929G>ACA427568304CNGA3c.759G>A (p.Val253=)
c.771G>A (p.Val257=)
c.705G>A (p.Val235=)
c.870G>A (p.Val290=)
c.924G>A (p.Val308=)
2g.98395929G>CCA427568302CNGA3c.759G>C (p.Val253=)
c.771G>C (p.Val257=)
c.705G>C (p.Val235=)
c.870G>C (p.Val290=)
c.924G>C (p.Val308=)
2g.98395929G>TCA427568300CNGA3c.759G>T (p.Val253=)
c.771G>T (p.Val257=)
c.705G>T (p.Val235=)
c.870G>T (p.Val290=)
c.924G>T (p.Val308=)
2g.98395930T>ACA347832093CNGA3c.760T>A (p.Leu254Met)
c.772T>A (p.Leu258Met)
c.706T>A (p.Leu236Met)
c.871T>A (p.Leu291Met)
c.925T>A (p.Leu309Met)
2g.98395930T>CCA427568307CNGA3c.760T>C (p.Leu254=)
c.772T>C (p.Leu258=)
c.706T>C (p.Leu236=)
c.871T>C (p.Leu291=)
c.925T>C (p.Leu309=)
2g.98395930T>GCA347832092CNGA3c.760T>G (p.Leu254Val)
c.772T>G (p.Leu258Val)
c.706T>G (p.Leu236Val)
c.871T>G (p.Leu291Val)
c.925T>G (p.Leu309Val)
2g.98395931T>ACA347832094CNGA3c.761T>A (p.Leu254Ter)
c.773T>A (p.Leu258Ter)
c.707T>A (p.Leu236Ter)
c.872T>A (p.Leu291Ter)
c.926T>A (p.Leu309Ter)
2g.98395931T>CCA347832096CNGA3c.761T>C (p.Leu254Ser)
c.773T>C (p.Leu258Ser)
c.707T>C (p.Leu236Ser)
c.872T>C (p.Leu291Ser)
c.926T>C (p.Leu309Ser)
2g.98395931T>GCA347832095CNGA3c.761T>G (p.Leu254Trp)
c.773T>G (p.Leu258Trp)
c.707T>G (p.Leu236Trp)
c.872T>G (p.Leu291Trp)
c.926T>G (p.Leu309Trp)
2g.98395932G>ACA427568317CNGA3c.762G>A (p.Leu254=)
c.774G>A (p.Leu258=)
c.708G>A (p.Leu236=)
c.873G>A (p.Leu291=)
c.927G>A (p.Leu309=)
2g.98395932G>CCA347832097CNGA3c.762G>C (p.Leu254Phe)
c.774G>C (p.Leu258Phe)
c.708G>C (p.Leu236Phe)
c.873G>C (p.Leu291Phe)
c.927G>C (p.Leu309Phe)
2g.98395932G>TCA347832098CNGA3c.762G>T (p.Leu254Phe)
c.774G>T (p.Leu258Phe)
c.708G>T (p.Leu236Phe)
c.873G>T (p.Leu291Phe)
c.927G>T (p.Leu309Phe)
2g.98395933T>ACA347832099CNGA3c.763T>A (p.Ser255Thr)
c.775T>A (p.Ser259Thr)
c.709T>A (p.Ser237Thr)
c.874T>A (p.Ser292Thr)
c.928T>A (p.Ser310Thr)
2g.98395933T>CCA347832100CNGA3c.763T>C (p.Ser255Pro)
c.775T>C (p.Ser259Pro)
c.709T>C (p.Ser237Pro)
c.874T>C (p.Ser292Pro)
c.928T>C (p.Ser310Pro)
2g.98395933T>GCA347832101CNGA3c.763T>G (p.Ser255Ala)
c.775T>G (p.Ser259Ala)
c.709T>G (p.Ser237Ala)
c.874T>G (p.Ser292Ala)
c.928T>G (p.Ser310Ala)
2g.98395934C>ACA347832102CNGA3c.764C>A (p.Ser255Tyr)
c.776C>A (p.Ser259Tyr)
c.710C>A (p.Ser237Tyr)
c.875C>A (p.Ser292Tyr)
c.929C>A (p.Ser310Tyr)
2g.98395934C=CA1273419684CNGA3c.764C= (p.Ser255=)
c.776C= (p.Ser259=)
c.710C= (p.Ser237=)
c.875C= (p.Ser292=)
c.929C= (p.Ser310=)
2g.98395934C>GCA347832103CNGA3c.764C>G (p.Ser255Cys)
c.776C>G (p.Ser259Cys)
c.710C>G (p.Ser237Cys)
c.875C>G (p.Ser292Cys)
c.929C>G (p.Ser310Cys)
2g.98395934C>TCA52635206CNGA3c.764C>T (p.Ser255Phe)
c.776C>T (p.Ser259Phe)
c.710C>T (p.Ser237Phe)
c.875C>T (p.Ser292Phe)
c.929C>T (p.Ser310Phe)
 dbSNP
2g.98395935C>ACA427568329CNGA3c.765C>A (p.Ser255=)
c.777C>A (p.Ser259=)
c.711C>A (p.Ser237=)
c.876C>A (p.Ser292=)
c.930C>A (p.Ser310=)
2g.98395935C=CA1273419685CNGA3c.765C= (p.Ser255=)
c.777C= (p.Ser259=)
c.711C= (p.Ser237=)
c.876C= (p.Ser292=)
c.930C= (p.Ser310=)
2g.98395935C>GCA427568332CNGA3c.765C>G (p.Ser255=)
c.777C>G (p.Ser259=)
c.711C>G (p.Ser237=)
c.876C>G (p.Ser292=)
c.930C>G (p.Ser310=)
2g.98395935C>TCA427568330CNGA3c.765C>T (p.Ser255=)
c.777C>T (p.Ser259=)
c.711C>T (p.Ser237=)
c.876C>T (p.Ser292=)
c.930C>T (p.Ser310=)
 dbSNP gnomAD v3 gnomAD v4
2g.98395936C>ACA347832104CNGA3c.766C>A (p.Leu256Met)
c.778C>A (p.Leu260Met)
c.712C>A (p.Leu238Met)
c.877C>A (p.Leu293Met)
c.931C>A (p.Leu311Met)
2g.98395936C=CA1273419686CNGA3c.766C= (p.Leu256=)
c.778C= (p.Leu260=)
c.712C= (p.Leu238=)
c.877C= (p.Leu293=)
c.931C= (p.Leu311=)
2g.98395936C>GCA347832105CNGA3c.766C>G (p.Leu256Val)
c.778C>G (p.Leu260Val)
c.712C>G (p.Leu238Val)
c.877C>G (p.Leu293Val)
c.931C>G (p.Leu311Val)
2g.98395936C>TCA1793887CNGA3c.766C>T (p.Leu256=)
c.778C>T (p.Leu260=)
c.712C>T (p.Leu238=)
c.877C>T (p.Leu293=)
c.931C>T (p.Leu311=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395937T>ACA347832108CNGA3c.767T>A (p.Leu256Gln)
c.779T>A (p.Leu260Gln)
c.713T>A (p.Leu238Gln)
c.878T>A (p.Leu293Gln)
c.932T>A (p.Leu311Gln)
2g.98395937T>CCA347832107CNGA3c.767T>C (p.Leu256Pro)
c.779T>C (p.Leu260Pro)
c.713T>C (p.Leu238Pro)
c.878T>C (p.Leu293Pro)
c.932T>C (p.Leu311Pro)
 ClinVar dbSNP
2g.98395937T>GCA347832106CNGA3c.767T>G (p.Leu256Arg)
c.779T>G (p.Leu260Arg)
c.713T>G (p.Leu238Arg)
c.878T>G (p.Leu293Arg)
c.932T>G (p.Leu311Arg)
2g.98395938G>ACA427568344CNGA3c.768G>A (p.Leu256=)
c.780G>A (p.Leu260=)
c.714G>A (p.Leu238=)
c.879G>A (p.Leu293=)
c.933G>A (p.Leu311=)
2g.98395938G>CCA427568345CNGA3c.768G>C (p.Leu256=)
c.780G>C (p.Leu260=)
c.714G>C (p.Leu238=)
c.879G>C (p.Leu293=)
c.933G>C (p.Leu311=)
 dbSNP gnomAD v4
2g.98395938G=CA1273419687CNGA3c.768G= (p.Leu256=)
c.780G= (p.Leu260=)
c.714G= (p.Leu238=)
c.879G= (p.Leu293=)
c.933G= (p.Leu311=)
2g.98395938G>TCA427568348CNGA3c.768G>T (p.Leu256=)
c.780G>T (p.Leu260=)
c.714G>T (p.Leu238=)
c.879G>T (p.Leu293=)
c.933G>T (p.Leu311=)
2g.98395939G>ACA347832109CNGA3c.769G>A (p.Val257Ile)
c.781G>A (p.Val261Ile)
c.715G>A (p.Val239Ile)
c.880G>A (p.Val294Ile)
c.934G>A (p.Val312Ile)
 gnomAD v4
2g.98395939G>CCA347832110CNGA3c.769G>C (p.Val257Leu)
c.781G>C (p.Val261Leu)
c.715G>C (p.Val239Leu)
c.880G>C (p.Val294Leu)
c.934G>C (p.Val312Leu)
2g.98395939G>TCA347832111CNGA3c.769G>T (p.Val257Phe)
c.781G>T (p.Val261Phe)
c.715G>T (p.Val239Phe)
c.880G>T (p.Val294Phe)
c.934G>T (p.Val312Phe)
2g.98395940T>ACA347832112CNGA3c.770T>A (p.Val257Asp)
c.782T>A (p.Val261Asp)
c.716T>A (p.Val239Asp)
c.881T>A (p.Val294Asp)
c.935T>A (p.Val312Asp)
2g.98395940T>CCA347832113CNGA3c.770T>C (p.Val257Ala)
c.782T>C (p.Val261Ala)
c.716T>C (p.Val239Ala)
c.881T>C (p.Val294Ala)
c.935T>C (p.Val312Ala)
2g.98395940T>GCA347832114CNGA3c.770T>G (p.Val257Gly)
c.782T>G (p.Val261Gly)
c.716T>G (p.Val239Gly)
c.881T>G (p.Val294Gly)
c.935T>G (p.Val312Gly)
2g.98395941C>ACA427568359CNGA3c.771C>A (p.Val257=)
c.783C>A (p.Val261=)
c.717C>A (p.Val239=)
c.882C>A (p.Val294=)
c.936C>A (p.Val312=)
2g.98395941C=CA1273419688CNGA3c.771C= (p.Val257=)
c.783C= (p.Val261=)
c.717C= (p.Val239=)
c.882C= (p.Val294=)
c.936C= (p.Val312=)
2g.98395941C>GCA427568357CNGA3c.771C>G (p.Val257=)
c.783C>G (p.Val261=)
c.717C>G (p.Val239=)
c.882C>G (p.Val294=)
c.936C>G (p.Val312=)
 dbSNP
2g.98395941C>TCA427568361CNGA3c.771C>T (p.Val257=)
c.783C>T (p.Val261=)
c.717C>T (p.Val239=)
c.882C>T (p.Val294=)
c.936C>T (p.Val312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395942C>ACA347832115CNGA3c.772C>A (p.Pro258Thr)
c.784C>A (p.Pro262Thr)
c.718C>A (p.Pro240Thr)
c.883C>A (p.Pro295Thr)
c.937C>A (p.Pro313Thr)
2g.98395942C=CA1273419689CNGA3c.772C= (p.Pro258=)
c.784C= (p.Pro262=)
c.718C= (p.Pro240=)
c.883C= (p.Pro295=)
c.937C= (p.Pro313=)
2g.98395942C>GCA347832116CNGA3c.772C>G (p.Pro258Ala)
c.784C>G (p.Pro262Ala)
c.718C>G (p.Pro240Ala)
c.883C>G (p.Pro295Ala)
c.937C>G (p.Pro313Ala)
 ClinVar dbSNP
2g.98395942C>TCA347832117CNGA3c.772C>T (p.Pro258Ser)
c.784C>T (p.Pro262Ser)
c.718C>T (p.Pro240Ser)
c.883C>T (p.Pro295Ser)
c.937C>T (p.Pro313Ser)
 dbSNP gnomAD v2
2g.98395943C>ACA347832118CNGA3c.773C>A (p.Pro258His)
c.785C>A (p.Pro262His)
c.719C>A (p.Pro240His)
c.884C>A (p.Pro295His)
c.938C>A (p.Pro313His)
2g.98395943C>GCA347832119CNGA3c.773C>G (p.Pro258Arg)
c.785C>G (p.Pro262Arg)
c.719C>G (p.Pro240Arg)
c.884C>G (p.Pro295Arg)
c.938C>G (p.Pro313Arg)
 gnomAD v4
2g.98395943C>TCA347832120CNGA3c.773C>T (p.Pro258Leu)
c.785C>T (p.Pro262Leu)
c.719C>T (p.Pro240Leu)
c.884C>T (p.Pro295Leu)
c.938C>T (p.Pro313Leu)
2g.98395944C>ACA427568370CNGA3c.774C>A (p.Pro258=)
c.786C>A (p.Pro262=)
c.720C>A (p.Pro240=)
c.885C>A (p.Pro295=)
c.939C>A (p.Pro313=)
2g.98395944C>GCA427568372CNGA3c.774C>G (p.Pro258=)
c.786C>G (p.Pro262=)
c.720C>G (p.Pro240=)
c.885C>G (p.Pro295=)
c.939C>G (p.Pro313=)
2g.98395944C>TCA427568374CNGA3c.774C>T (p.Pro258=)
c.786C>T (p.Pro262=)
c.720C>T (p.Pro240=)
c.885C>T (p.Pro295=)
c.939C>T (p.Pro313=)
2g.98395947_98395973delCA2699953463CNGA3c.777_803del (p.Asp260_Thr268del)
c.789_815del (p.Asp264_Thr272del)
c.723_749del (p.Asp242_Thr250del)
c.888_914del (p.Asp297_Thr305del)
c.942_968del (p.Asp315_Thr323del)
 dbSNP
2g.98395945A=CA1273419690CNGA3c.775A= (p.Thr259=)
c.787A= (p.Thr263=)
c.721A= (p.Thr241=)
c.886A= (p.Thr296=)
c.940A= (p.Thr314=)
2g.98395945A>CCA347832123CNGA3c.775A>C (p.Thr259Pro)
c.787A>C (p.Thr263Pro)
c.721A>C (p.Thr241Pro)
c.886A>C (p.Thr296Pro)
c.940A>C (p.Thr314Pro)
 ClinVar
2g.98395945A>GCA347832122CNGA3c.775A>G (p.Thr259Ala)
c.787A>G (p.Thr263Ala)
c.721A>G (p.Thr241Ala)
c.886A>G (p.Thr296Ala)
c.940A>G (p.Thr314Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.98395945A>TCA347832121CNGA3c.775A>T (p.Thr259Ser)
c.787A>T (p.Thr263Ser)
c.721A>T (p.Thr241Ser)
c.886A>T (p.Thr296Ser)
c.940A>T (p.Thr314Ser)
2g.98395946C>ACA347832124CNGA3c.776C>A (p.Thr259Asn)
c.788C>A (p.Thr263Asn)
c.722C>A (p.Thr241Asn)
c.887C>A (p.Thr296Asn)
c.941C>A (p.Thr314Asn)
2g.98395946C>GCA347832125CNGA3c.776C>G (p.Thr259Ser)
c.788C>G (p.Thr263Ser)
c.722C>G (p.Thr241Ser)
c.887C>G (p.Thr296Ser)
c.941C>G (p.Thr314Ser)
 gnomAD v4
2g.98395946C>TCA347832126CNGA3c.776C>T (p.Thr259Ile)
c.788C>T (p.Thr263Ile)
c.722C>T (p.Thr241Ile)
c.887C>T (p.Thr296Ile)
c.941C>T (p.Thr314Ile)
2g.98395947C>ACA1793889CNGA3c.777C>A (p.Thr259=)
c.789C>A (p.Thr263=)
c.723C>A (p.Thr241=)
c.888C>A (p.Thr296=)
c.942C>A (p.Thr314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395947C=CA1273419691CNGA3c.777C= (p.Thr259=)
c.789C= (p.Thr263=)
c.723C= (p.Thr241=)
c.888C= (p.Thr296=)
c.942C= (p.Thr314=)
2g.98395947C>GCA427568377CNGA3c.777C>G (p.Thr259=)
c.789C>G (p.Thr263=)
c.723C>G (p.Thr241=)
c.888C>G (p.Thr296=)
c.942C>G (p.Thr314=)
2g.98395947C>TCA1793888CNGA3c.777C>T (p.Thr259=)
c.789C>T (p.Thr263=)
c.723C>T (p.Thr241=)
c.888C>T (p.Thr296=)
c.942C>T (p.Thr314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395948G>ACA1793891CNGA3c.778G>A (p.Asp260Asn)
c.790G>A (p.Asp264Asn)
c.724G>A (p.Asp242Asn)
c.889G>A (p.Asp297Asn)
c.943G>A (p.Asp315Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395948G>CCA1793892CNGA3c.778G>C (p.Asp260His)
c.790G>C (p.Asp264His)
c.724G>C (p.Asp242His)
c.889G>C (p.Asp297His)
c.943G>C (p.Asp315His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.98395948G=CA1273419692CNGA3c.778G= (p.Asp260=)
c.790G= (p.Asp264=)
c.724G= (p.Asp242=)
c.889G= (p.Asp297=)
c.943G= (p.Asp315=)
2g.98395948G>TCA347832127CNGA3c.778G>T (p.Asp260Tyr)
c.790G>T (p.Asp264Tyr)
c.724G>T (p.Asp242Tyr)
c.889G>T (p.Asp297Tyr)
c.943G>T (p.Asp315Tyr)
 COSMIC
2g.98395948dupCA1793890CNGA3c.778dup (p.Asp260GlyfsTer27)
c.790dup (p.Asp264GlyfsTer27)
c.724dup (p.Asp242GlyfsTer27)
c.889dup (p.Asp297GlyfsTer27)
c.943dup (p.Asp315GlyfsTer27)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395949A>CCA347832128CNGA3c.779A>C (p.Asp260Ala)
c.791A>C (p.Asp264Ala)
c.725A>C (p.Asp242Ala)
c.890A>C (p.Asp297Ala)
c.944A>C (p.Asp315Ala)
2g.98395949A>GCA347832129CNGA3c.779A>G (p.Asp260Gly)
c.791A>G (p.Asp264Gly)
c.725A>G (p.Asp242Gly)
c.890A>G (p.Asp297Gly)
c.944A>G (p.Asp315Gly)
2g.98395949A>TCA347832130CNGA3c.779A>T (p.Asp260Val)
c.791A>T (p.Asp264Val)
c.725A>T (p.Asp242Val)
c.890A>T (p.Asp297Val)
c.944A>T (p.Asp315Val)
2g.98395950C>ACA347832131CNGA3c.780C>A (p.Asp260Glu)
c.792C>A (p.Asp264Glu)
c.726C>A (p.Asp242Glu)
c.891C>A (p.Asp297Glu)
c.945C>A (p.Asp315Glu)
 gnomAD v4
2g.98395950C=CA1273419693CNGA3c.780C= (p.Asp260=)
c.792C= (p.Asp264=)
c.726C= (p.Asp242=)
c.891C= (p.Asp297=)
c.945C= (p.Asp315=)
2g.98395950C>GCA347832132CNGA3c.780C>G (p.Asp260Glu)
c.792C>G (p.Asp264Glu)
c.726C>G (p.Asp242Glu)
c.891C>G (p.Asp297Glu)
c.945C>G (p.Asp315Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.98395950C>TCA427568390CNGA3c.780C>T (p.Asp260=)
c.792C>T (p.Asp264=)
c.726C>T (p.Asp242=)
c.891C>T (p.Asp297=)
c.945C>T (p.Asp315=)
 dbSNP gnomAD v2 gnomAD v4
2g.98395951C>ACA347832133CNGA3c.781C>A (p.Leu261Met)
c.793C>A (p.Leu265Met)
c.727C>A (p.Leu243Met)
c.892C>A (p.Leu298Met)
c.946C>A (p.Leu316Met)
2g.98395951C=CA1273419694CNGA3c.781C= (p.Leu261=)
c.793C= (p.Leu265=)
c.727C= (p.Leu243=)
c.892C= (p.Leu298=)
c.946C= (p.Leu316=)
2g.98395951C>GCA347832134CNGA3c.781C>G (p.Leu261Val)
c.793C>G (p.Leu265Val)
c.727C>G (p.Leu243Val)
c.892C>G (p.Leu298Val)
c.946C>G (p.Leu316Val)
 ClinVar COSMIC
2g.98395951C>TCA427568392CNGA3c.781C>T (p.Leu261=)
c.793C>T (p.Leu265=)
c.727C>T (p.Leu243=)
c.892C>T (p.Leu298=)
c.946C>T (p.Leu316=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.98395952T>ACA347832135CNGA3c.782T>A (p.Leu261Gln)
c.794T>A (p.Leu265Gln)
c.728T>A (p.Leu243Gln)
c.893T>A (p.Leu298Gln)
c.947T>A (p.Leu316Gln)
2g.98395952T>CCA347832136CNGA3c.782T>C (p.Leu261Pro)
c.794T>C (p.Leu265Pro)
c.728T>C (p.Leu243Pro)
c.893T>C (p.Leu298Pro)
c.947T>C (p.Leu316Pro)
 gnomAD v4
2g.98395952T>GCA347832137CNGA3c.782T>G (p.Leu261Arg)
c.794T>G (p.Leu265Arg)
c.728T>G (p.Leu243Arg)
c.893T>G (p.Leu298Arg)
c.947T>G (p.Leu316Arg)
2g.98395953G>ACA52635229CNGA3c.783G>A (p.Leu261=)
c.795G>A (p.Leu265=)
c.729G>A (p.Leu243=)
c.894G>A (p.Leu298=)
c.948G>A (p.Leu316=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395953G>CCA427568402CNGA3c.783G>C (p.Leu261=)
c.795G>C (p.Leu265=)
c.729G>C (p.Leu243=)
c.894G>C (p.Leu298=)
c.948G>C (p.Leu316=)
2g.98395953G=CA1273419695CNGA3c.783G= (p.Leu261=)
c.795G= (p.Leu265=)
c.729G= (p.Leu243=)
c.894G= (p.Leu298=)
c.948G= (p.Leu316=)
2g.98395953G>TCA427568404CNGA3c.783G>T (p.Leu261=)
c.795G>T (p.Leu265=)
c.729G>T (p.Leu243=)
c.894G>T (p.Leu298=)
c.948G>T (p.Leu316=)
2g.98395954G>ACA1793893CNGA3c.784G>A (p.Ala262Thr)
c.796G>A (p.Ala266Thr)
c.730G>A (p.Ala244Thr)
c.895G>A (p.Ala299Thr)
c.949G>A (p.Ala317Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395954G>CCA347832138CNGA3c.784G>C (p.Ala262Pro)
c.796G>C (p.Ala266Pro)
c.730G>C (p.Ala244Pro)
c.895G>C (p.Ala299Pro)
c.949G>C (p.Ala317Pro)
2g.98395954G=CA1273419696CNGA3c.784G= (p.Ala262=)
c.796G= (p.Ala266=)
c.730G= (p.Ala244=)
c.895G= (p.Ala299=)
c.949G= (p.Ala317=)
2g.98395954G>TCA347832139CNGA3c.784G>T (p.Ala262Ser)
c.796G>T (p.Ala266Ser)
c.730G>T (p.Ala244Ser)
c.895G>T (p.Ala299Ser)
c.949G>T (p.Ala317Ser)
2g.98395955C>ACA347832140CNGA3c.785C>A (p.Ala262Asp)
c.797C>A (p.Ala266Asp)
c.731C>A (p.Ala244Asp)
c.896C>A (p.Ala299Asp)
c.950C>A (p.Ala317Asp)
2g.98395955C=CA1273419697CNGA3c.785C= (p.Ala262=)
c.797C= (p.Ala266=)
c.731C= (p.Ala244=)
c.896C= (p.Ala299=)
c.950C= (p.Ala317=)
2g.98395955C>GCA347832141CNGA3c.785C>G (p.Ala262Gly)
c.797C>G (p.Ala266Gly)
c.731C>G (p.Ala244Gly)
c.896C>G (p.Ala299Gly)
c.950C>G (p.Ala317Gly)
2g.98395955C>TCA347832142CNGA3c.785C>T (p.Ala262Val)
c.797C>T (p.Ala266Val)
c.731C>T (p.Ala244Val)
c.896C>T (p.Ala299Val)
c.950C>T (p.Ala317Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.98395956T>ACA427568413CNGA3c.786T>A (p.Ala262=)
c.798T>A (p.Ala266=)
c.732T>A (p.Ala244=)
c.897T>A (p.Ala299=)
c.951T>A (p.Ala317=)
2g.98395956T>CCA427568415CNGA3c.786T>C (p.Ala262=)
c.798T>C (p.Ala266=)
c.732T>C (p.Ala244=)
c.897T>C (p.Ala299=)
c.951T>C (p.Ala317=)
 dbSNP gnomAD v3 gnomAD v4
2g.98395956T>GCA427568417CNGA3c.786T>G (p.Ala262=)
c.798T>G (p.Ala266=)
c.732T>G (p.Ala244=)
c.897T>G (p.Ala299=)
c.951T>G (p.Ala317=)
2g.98395956T=CA1273419698CNGA3c.786T= (p.Ala262=)
c.798T= (p.Ala266=)
c.732T= (p.Ala244=)
c.897T= (p.Ala299=)
c.951T= (p.Ala317=)
2g.98395957T>ACA347832143CNGA3c.787T>A (p.Tyr263Asn)
c.799T>A (p.Tyr267Asn)
c.733T>A (p.Tyr245Asn)
c.898T>A (p.Tyr300Asn)
c.952T>A (p.Tyr318Asn)
2g.98395957T>CCA347832144CNGA3c.787T>C (p.Tyr263His)
c.799T>C (p.Tyr267His)
c.733T>C (p.Tyr245His)
c.898T>C (p.Tyr300His)
c.952T>C (p.Tyr318His)
2g.98395957T>GCA52635235CNGA3c.787T>G (p.Tyr263Asp)
c.799T>G (p.Tyr267Asp)
c.733T>G (p.Tyr245Asp)
c.898T>G (p.Tyr300Asp)
c.952T>G (p.Tyr318Asp)
 ClinVar dbSNP gnomAD v4
2g.98395957T=CA1273419699CNGA3c.787T= (p.Tyr263=)
c.799T= (p.Tyr267=)
c.733T= (p.Tyr245=)
c.898T= (p.Tyr300=)
c.952T= (p.Tyr318=)
2g.98395958A>CCA347832145CNGA3c.788A>C (p.Tyr263Ser)
c.800A>C (p.Tyr267Ser)
c.734A>C (p.Tyr245Ser)
c.899A>C (p.Tyr300Ser)
c.953A>C (p.Tyr318Ser)
2g.98395958A>GCA347832147CNGA3c.788A>G (p.Tyr263Cys)
c.800A>G (p.Tyr267Cys)
c.734A>G (p.Tyr245Cys)
c.899A>G (p.Tyr300Cys)
c.953A>G (p.Tyr318Cys)
2g.98395958A>TCA347832146CNGA3c.788A>T (p.Tyr263Phe)
c.800A>T (p.Tyr267Phe)
c.734A>T (p.Tyr245Phe)
c.899A>T (p.Tyr300Phe)
c.953A>T (p.Tyr318Phe)
2g.98395959C>ACA347832148CNGA3c.789C>A (p.Tyr263Ter)
c.801C>A (p.Tyr267Ter)
c.735C>A (p.Tyr245Ter)
c.900C>A (p.Tyr300Ter)
c.954C>A (p.Tyr318Ter)
2g.98395959C>GCA347832149CNGA3c.789C>G (p.Tyr263Ter)
c.801C>G (p.Tyr267Ter)
c.735C>G (p.Tyr245Ter)
c.900C>G (p.Tyr300Ter)
c.954C>G (p.Tyr318Ter)
2g.98395959C>TCA427568429CNGA3c.789C>T (p.Tyr263=)
c.801C>T (p.Tyr267=)
c.735C>T (p.Tyr245=)
c.900C>T (p.Tyr300=)
c.954C>T (p.Tyr318=)
2g.98395960T>ACA1793894CNGA3c.790T>A (p.Leu264Ile)
c.802T>A (p.Leu268Ile)
c.736T>A (p.Leu246Ile)
c.901T>A (p.Leu301Ile)
c.955T>A (p.Leu319Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395960T>CCA427568434CNGA3c.790T>C (p.Leu264=)
c.802T>C (p.Leu268=)
c.736T>C (p.Leu246=)
c.901T>C (p.Leu301=)
c.955T>C (p.Leu319=)
2g.98395960T>GCA347832150CNGA3c.790T>G (p.Leu264Val)
c.802T>G (p.Leu268Val)
c.736T>G (p.Leu246Val)
c.901T>G (p.Leu301Val)
c.955T>G (p.Leu319Val)
2g.98395960T=CA1273419700CNGA3c.790T= (p.Leu264=)
c.802T= (p.Leu268=)
c.736T= (p.Leu246=)
c.901T= (p.Leu301=)
c.955T= (p.Leu319=)
2g.98395961T>ACA347832151CNGA3c.791T>A (p.Leu264Ter)
c.803T>A (p.Leu268Ter)
c.737T>A (p.Leu246Ter)
c.902T>A (p.Leu301Ter)
c.956T>A (p.Leu319Ter)
2g.98395961T>CCA347832153CNGA3c.791T>C (p.Leu264Ser)
c.803T>C (p.Leu268Ser)
c.737T>C (p.Leu246Ser)
c.902T>C (p.Leu301Ser)
c.956T>C (p.Leu319Ser)
 dbSNP
2g.98395961T>GCA347832152CNGA3c.791T>G (p.Leu264Ter)
c.803T>G (p.Leu268Ter)
c.737T>G (p.Leu246Ter)
c.902T>G (p.Leu301Ter)
c.956T>G (p.Leu319Ter)
2g.98395961T=CA1273419701CNGA3c.791T= (p.Leu264=)
c.803T= (p.Leu268=)
c.737T= (p.Leu246=)
c.902T= (p.Leu301=)
c.956T= (p.Leu319=)
2g.98395962A>CCA347832154CNGA3c.792A>C (p.Leu264Phe)
c.804A>C (p.Leu268Phe)
c.738A>C (p.Leu246Phe)
c.903A>C (p.Leu301Phe)
c.957A>C (p.Leu319Phe)
2g.98395962A>GCA427568446CNGA3c.792A>G (p.Leu264=)
c.804A>G (p.Leu268=)
c.738A>G (p.Leu246=)
c.903A>G (p.Leu301=)
c.957A>G (p.Leu319=)
2g.98395962A>TCA347832155CNGA3c.792A>T (p.Leu264Phe)
c.804A>T (p.Leu268Phe)
c.738A>T (p.Leu246Phe)
c.903A>T (p.Leu301Phe)
c.957A>T (p.Leu319Phe)
2g.98395963A>CCA347832156CNGA3c.793A>C (p.Lys265Gln)
c.805A>C (p.Lys269Gln)
c.739A>C (p.Lys247Gln)
c.904A>C (p.Lys302Gln)
c.958A>C (p.Lys320Gln)
2g.98395963A>GCA347832157CNGA3c.793A>G (p.Lys265Glu)
c.805A>G (p.Lys269Glu)
c.739A>G (p.Lys247Glu)
c.904A>G (p.Lys302Glu)
c.958A>G (p.Lys320Glu)
2g.98395963A>TCA347832158CNGA3c.793A>T (p.Lys265Ter)
c.805A>T (p.Lys269Ter)
c.739A>T (p.Lys247Ter)
c.904A>T (p.Lys302Ter)
c.958A>T (p.Lys320Ter)
 gnomAD v4
2g.98395964A>CCA347832159CNGA3c.794A>C (p.Lys265Thr)
c.806A>C (p.Lys269Thr)
c.740A>C (p.Lys247Thr)
c.905A>C (p.Lys302Thr)
c.959A>C (p.Lys320Thr)
2g.98395964A>GCA347832160CNGA3c.794A>G (p.Lys265Arg)
c.806A>G (p.Lys269Arg)
c.740A>G (p.Lys247Arg)
c.905A>G (p.Lys302Arg)
c.959A>G (p.Lys320Arg)
2g.98395964A>TCA347832161CNGA3c.794A>T (p.Lys265Met)
c.806A>T (p.Lys269Met)
c.740A>T (p.Lys247Met)
c.905A>T (p.Lys302Met)
c.959A>T (p.Lys320Met)
2g.98395965G>ACA427568461CNGA3c.795G>A (p.Lys265=)
c.807G>A (p.Lys269=)
c.741G>A (p.Lys247=)
c.906G>A (p.Lys302=)
c.960G>A (p.Lys320=)
2g.98395965G>CCA347832162CNGA3c.795G>C (p.Lys265Asn)
c.807G>C (p.Lys269Asn)
c.741G>C (p.Lys247Asn)
c.906G>C (p.Lys302Asn)
c.960G>C (p.Lys320Asn)
2g.98395965G>TCA347832163CNGA3c.795G>T (p.Lys265Asn)
c.807G>T (p.Lys269Asn)
c.741G>T (p.Lys247Asn)
c.906G>T (p.Lys302Asn)
c.960G>T (p.Lys320Asn)
2g.98395966G>ACA1793895CNGA3c.796G>A (p.Val266Met)
c.808G>A (p.Val270Met)
c.742G>A (p.Val248Met)
c.907G>A (p.Val303Met)
c.961G>A (p.Val321Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395966G>CCA347832164CNGA3c.796G>C (p.Val266Leu)
c.808G>C (p.Val270Leu)
c.742G>C (p.Val248Leu)
c.907G>C (p.Val303Leu)
c.961G>C (p.Val321Leu)
2g.98395966G=CA1273419702CNGA3c.796G= (p.Val266=)
c.808G= (p.Val270=)
c.742G= (p.Val248=)
c.907G= (p.Val303=)
c.961G= (p.Val321=)
2g.98395966G>TCA347832165CNGA3c.796G>T (p.Val266Leu)
c.808G>T (p.Val270Leu)
c.742G>T (p.Val248Leu)
c.907G>T (p.Val303Leu)
c.961G>T (p.Val321Leu)
2g.98395967T>ACA347832166CNGA3c.797T>A (p.Val266Glu)
c.809T>A (p.Val270Glu)
c.743T>A (p.Val248Glu)
c.908T>A (p.Val303Glu)
c.962T>A (p.Val321Glu)
2g.98395967T>CCA347832168CNGA3c.797T>C (p.Val266Ala)
c.809T>C (p.Val270Ala)
c.743T>C (p.Val248Ala)
c.908T>C (p.Val303Ala)
c.962T>C (p.Val321Ala)
2g.98395967T>GCA347832167CNGA3c.797T>G (p.Val266Gly)
c.809T>G (p.Val270Gly)
c.743T>G (p.Val248Gly)
c.908T>G (p.Val303Gly)
c.962T>G (p.Val321Gly)
2g.98395968G>ACA427568472CNGA3c.798G>A (p.Val266=)
c.810G>A (p.Val270=)
c.744G>A (p.Val248=)
c.909G>A (p.Val303=)
c.963G>A (p.Val321=)
2g.98395968G>CCA1793896CNGA3c.798G>C (p.Val266=)
c.810G>C (p.Val270=)
c.744G>C (p.Val248=)
c.909G>C (p.Val303=)
c.963G>C (p.Val321=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395968G=CA1273419703CNGA3c.798G= (p.Val266=)
c.810G= (p.Val270=)
c.744G= (p.Val248=)
c.909G= (p.Val303=)
c.963G= (p.Val321=)
2g.98395968G>TCA427568474CNGA3c.798G>T (p.Val266=)
c.810G>T (p.Val270=)
c.744G>T (p.Val248=)
c.909G>T (p.Val303=)
c.963G>T (p.Val321=)
2g.98395969G>ACA347832169CNGA3c.799G>A (p.Gly267Ser)
c.811G>A (p.Gly271Ser)
c.745G>A (p.Gly249Ser)
c.910G>A (p.Gly304Ser)
c.964G>A (p.Gly322Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.98395969G>CCA347832170CNGA3c.799G>C (p.Gly267Arg)
c.811G>C (p.Gly271Arg)
c.745G>C (p.Gly249Arg)
c.910G>C (p.Gly304Arg)
c.964G>C (p.Gly322Arg)
2g.98395969G=CA1273419704CNGA3c.799G= (p.Gly267=)
c.811G= (p.Gly271=)
c.745G= (p.Gly249=)
c.910G= (p.Gly304=)
c.964G= (p.Gly322=)
2g.98395969G>TCA347832171CNGA3c.799G>T (p.Gly267Cys)
c.811G>T (p.Gly271Cys)
c.745G>T (p.Gly249Cys)
c.910G>T (p.Gly304Cys)
c.964G>T (p.Gly322Cys)
2g.98395970G>ACA52635247CNGA3c.800G>A (p.Gly267Asp)
c.812G>A (p.Gly271Asp)
c.746G>A (p.Gly249Asp)
c.911G>A (p.Gly304Asp)
c.965G>A (p.Gly322Asp)
 dbSNP
2g.98395970G>CCA347832172CNGA3c.800G>C (p.Gly267Ala)
c.812G>C (p.Gly271Ala)
c.746G>C (p.Gly249Ala)
c.911G>C (p.Gly304Ala)
c.965G>C (p.Gly322Ala)
2g.98395970G=CA1273419705CNGA3c.800G= (p.Gly267=)
c.812G= (p.Gly271=)
c.746G= (p.Gly249=)
c.911G= (p.Gly304=)
c.965G= (p.Gly322=)
2g.98395970G>TCA347832173CNGA3c.800G>T (p.Gly267Val)
c.812G>T (p.Gly271Val)
c.746G>T (p.Gly249Val)
c.911G>T (p.Gly304Val)
c.965G>T (p.Gly322Val)
 gnomAD v4
2g.98395971C>ACA427568482CNGA3c.801C>A (p.Gly267=)
c.813C>A (p.Gly271=)
c.747C>A (p.Gly249=)
c.912C>A (p.Gly304=)
c.966C>A (p.Gly322=)
 dbSNP gnomAD v4
2g.98395971C=CA1273419706CNGA3c.801C= (p.Gly267=)
c.813C= (p.Gly271=)
c.747C= (p.Gly249=)
c.912C= (p.Gly304=)
c.966C= (p.Gly322=)
2g.98395971C>GCA427568484CNGA3c.801C>G (p.Gly267=)
c.813C>G (p.Gly271=)
c.747C>G (p.Gly249=)
c.912C>G (p.Gly304=)
c.966C>G (p.Gly322=)
2g.98395971C>TCA427568486CNGA3c.801C>T (p.Gly267=)
c.813C>T (p.Gly271=)
c.747C>T (p.Gly249=)
c.912C>T (p.Gly304=)
c.966C>T (p.Gly322=)
2g.98395972A>CCA347832174CNGA3c.802A>C (p.Thr268Pro)
c.814A>C (p.Thr272Pro)
c.748A>C (p.Thr250Pro)
c.913A>C (p.Thr305Pro)
c.967A>C (p.Thr323Pro)
2g.98395972A>GCA347832175CNGA3c.802A>G (p.Thr268Ala)
c.814A>G (p.Thr272Ala)
c.748A>G (p.Thr250Ala)
c.913A>G (p.Thr305Ala)
c.967A>G (p.Thr323Ala)
2g.98395972A>TCA347832176CNGA3c.802A>T (p.Thr268Ser)
c.814A>T (p.Thr272Ser)
c.748A>T (p.Thr250Ser)
c.913A>T (p.Thr305Ser)
c.967A>T (p.Thr323Ser)
2g.98395973C>ACA347832179CNGA3c.803C>A (p.Thr268Lys)
c.815C>A (p.Thr272Lys)
c.749C>A (p.Thr250Lys)
c.914C>A (p.Thr305Lys)
c.968C>A (p.Thr323Lys)
2g.98395973C>GCA347832178CNGA3c.803C>G (p.Thr268Arg)
c.815C>G (p.Thr272Arg)
c.749C>G (p.Thr250Arg)
c.914C>G (p.Thr305Arg)
c.968C>G (p.Thr323Arg)
2g.98395973C>TCA347832177CNGA3c.803C>T (p.Thr268Ile)
c.815C>T (p.Thr272Ile)
c.749C>T (p.Thr250Ile)
c.914C>T (p.Thr305Ile)
c.968C>T (p.Thr323Ile)
2g.98395973_98395974delinsCACA1273419707CNGA3c.803_804delinsCA (p.Thr268=)
c.815_816delinsCA (p.Thr272=)
c.749_750delinsCA (p.Thr250=)
c.914_915delinsCA (p.Thr305=)
c.968_969delinsCA (p.Thr323=)
2g.98395974A=CA1273419708CNGA3c.804A= (p.Thr268=)
c.816A= (p.Thr272=)
c.750A= (p.Thr250=)
c.915A= (p.Thr305=)
c.969A= (p.Thr323=)
2g.98395974A>CCA427568495CNGA3c.804A>C (p.Thr268=)
c.816A>C (p.Thr272=)
c.750A>C (p.Thr250=)
c.915A>C (p.Thr305=)
c.969A>C (p.Thr323=)
2g.98395974A>GCA52635251CNGA3c.804A>G (p.Thr268=)
c.816A>G (p.Thr272=)
c.750A>G (p.Thr250=)
c.915A>G (p.Thr305=)
c.969A>G (p.Thr323=)
 dbSNP gnomAD v4
2g.98395974A>TCA427568497CNGA3c.804A>T (p.Thr268=)
c.816A>T (p.Thr272=)
c.750A>T (p.Thr250=)
c.915A>T (p.Thr305=)
c.969A>T (p.Thr323=)
 dbSNP gnomAD v3 gnomAD v4
2g.98395976delCA916605251CNGA3c.806del (p.Asn269ThrfsTer5)
c.818del (p.Asn273ThrfsTer5)
c.752del (p.Asn251ThrfsTer5)
c.917del (p.Asn306ThrfsTer5)
c.971del (p.Asn324ThrfsTer5)
 dbSNP
2g.98395975A>CCA347832182CNGA3c.805A>C (p.Asn269His)
c.817A>C (p.Asn273His)
c.751A>C (p.Asn251His)
c.916A>C (p.Asn306His)
c.970A>C (p.Asn324His)
 dbSNP gnomAD v3 gnomAD v4
2g.98395975A>GCA347832180CNGA3c.805A>G (p.Asn269Asp)
c.817A>G (p.Asn273Asp)
c.751A>G (p.Asn251Asp)
c.916A>G (p.Asn306Asp)
c.970A>G (p.Asn324Asp)
 gnomAD v4
2g.98395975A>TCA347832181CNGA3c.805A>T (p.Asn269Tyr)
c.817A>T (p.Asn273Tyr)
c.751A>T (p.Asn251Tyr)
c.916A>T (p.Asn306Tyr)
c.970A>T (p.Asn324Tyr)
2g.98395976A>CCA347832183CNGA3c.806A>C (p.Asn269Thr)
c.818A>C (p.Asn273Thr)
c.752A>C (p.Asn251Thr)
c.917A>C (p.Asn306Thr)
c.971A>C (p.Asn324Thr)
2g.98395976A>GCA347832184CNGA3c.806A>G (p.Asn269Ser)
c.818A>G (p.Asn273Ser)
c.752A>G (p.Asn251Ser)
c.917A>G (p.Asn306Ser)
c.971A>G (p.Asn324Ser)
2g.98395976A>TCA347832185CNGA3c.806A>T (p.Asn269Ile)
c.818A>T (p.Asn273Ile)
c.752A>T (p.Asn251Ile)
c.917A>T (p.Asn306Ile)
c.971A>T (p.Asn324Ile)
 gnomAD v4
2g.98395977C>ACA347832186CNGA3c.807C>A (p.Asn269Lys)
c.819C>A (p.Asn273Lys)
c.753C>A (p.Asn251Lys)
c.918C>A (p.Asn306Lys)
c.972C>A (p.Asn324Lys)
2g.98395977C>GCA347832187CNGA3c.807C>G (p.Asn269Lys)
c.819C>G (p.Asn273Lys)
c.753C>G (p.Asn251Lys)
c.918C>G (p.Asn306Lys)
c.972C>G (p.Asn324Lys)
2g.98395977C>TCA427568510CNGA3c.807C>T (p.Asn269=)
c.819C>T (p.Asn273=)
c.753C>T (p.Asn251=)
c.918C>T (p.Asn306=)
c.972C>T (p.Asn324=)
 gnomAD v4
2g.98395978T>ACA1793898CNGA3c.808T>A (p.Tyr270Asn)
c.820T>A (p.Tyr274Asn)
c.754T>A (p.Tyr252Asn)
c.919T>A (p.Tyr307Asn)
c.973T>A (p.Tyr325Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395978T>CCA1793897CNGA3c.808T>C (p.Tyr270His)
c.820T>C (p.Tyr274His)
c.754T>C (p.Tyr252His)
c.919T>C (p.Tyr307His)
c.973T>C (p.Tyr325His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395978T>GCA347832188CNGA3c.808T>G (p.Tyr270Asp)
c.820T>G (p.Tyr274Asp)
c.754T>G (p.Tyr252Asp)
c.919T>G (p.Tyr307Asp)
c.973T>G (p.Tyr325Asp)
2g.98395978T=CA1273419709CNGA3c.808T= (p.Tyr270=)
c.820T= (p.Tyr274=)
c.754T= (p.Tyr252=)
c.919T= (p.Tyr307=)
c.973T= (p.Tyr325=)
2g.98395979A>CCA347832189CNGA3c.809A>C (p.Tyr270Ser)
c.821A>C (p.Tyr274Ser)
c.755A>C (p.Tyr252Ser)
c.920A>C (p.Tyr307Ser)
c.974A>C (p.Tyr325Ser)
2g.98395979A>GCA347832190CNGA3c.809A>G (p.Tyr270Cys)
c.821A>G (p.Tyr274Cys)
c.755A>G (p.Tyr252Cys)
c.920A>G (p.Tyr307Cys)
c.974A>G (p.Tyr325Cys)
2g.98395979A>TCA347832191CNGA3c.809A>T (p.Tyr270Phe)
c.821A>T (p.Tyr274Phe)
c.755A>T (p.Tyr252Phe)
c.920A>T (p.Tyr307Phe)
c.974A>T (p.Tyr325Phe)
2g.98395980C>ACA347832193CNGA3c.810C>A (p.Tyr270Ter)
c.822C>A (p.Tyr274Ter)
c.756C>A (p.Tyr252Ter)
c.921C>A (p.Tyr307Ter)
c.975C>A (p.Tyr325Ter)
2g.98395980C>GCA347832192CNGA3c.810C>G (p.Tyr270Ter)
c.822C>G (p.Tyr274Ter)
c.756C>G (p.Tyr252Ter)
c.921C>G (p.Tyr307Ter)
c.975C>G (p.Tyr325Ter)
2g.98395980C>TCA427568523CNGA3c.810C>T (p.Tyr270=)
c.822C>T (p.Tyr274=)
c.756C>T (p.Tyr252=)
c.921C>T (p.Tyr307=)
c.975C>T (p.Tyr325=)
 gnomAD v4
2g.98395981C>ACA1793900CNGA3c.811C>A (p.Pro271Thr)
c.823C>A (p.Pro275Thr)
c.757C>A (p.Pro253Thr)
c.922C>A (p.Pro308Thr)
c.976C>A (p.Pro326Thr)
 ClinVar dbSNP ExAC gnomAD v2 COSMIC
2g.98395981C=CA1273419710CNGA3c.811C= (p.Pro271=)
c.823C= (p.Pro275=)
c.757C= (p.Pro253=)
c.922C= (p.Pro308=)
c.976C= (p.Pro326=)
2g.98395981C>GCA1793899CNGA3c.811C>G (p.Pro271Ala)
c.823C>G (p.Pro275Ala)
c.757C>G (p.Pro253Ala)
c.922C>G (p.Pro308Ala)
c.976C>G (p.Pro326Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395981C>TCA347832194CNGA3c.811C>T (p.Pro271Ser)
c.823C>T (p.Pro275Ser)
c.757C>T (p.Pro253Ser)
c.922C>T (p.Pro308Ser)
c.976C>T (p.Pro326Ser)
2g.98395982C>ACA347832195CNGA3c.812C>A (p.Pro271Gln)
c.824C>A (p.Pro275Gln)
c.758C>A (p.Pro253Gln)
c.923C>A (p.Pro308Gln)
c.977C>A (p.Pro326Gln)
2g.98395982C>GCA347832196CNGA3c.812C>G (p.Pro271Arg)
c.824C>G (p.Pro275Arg)
c.758C>G (p.Pro253Arg)
c.923C>G (p.Pro308Arg)
c.977C>G (p.Pro326Arg)
2g.98395982C>TCA347832197CNGA3c.812C>T (p.Pro271Leu)
c.824C>T (p.Pro275Leu)
c.758C>T (p.Pro253Leu)
c.923C>T (p.Pro308Leu)
c.977C>T (p.Pro326Leu)
2g.98395983A=CA1273419711CNGA3c.813A= (p.Pro271=)
c.825A= (p.Pro275=)
c.759A= (p.Pro253=)
c.924A= (p.Pro308=)
c.978A= (p.Pro326=)
2g.98395983A>CCA427568533CNGA3c.813A>C (p.Pro271=)
c.825A>C (p.Pro275=)
c.759A>C (p.Pro253=)
c.924A>C (p.Pro308=)
c.978A>C (p.Pro326=)
2g.98395983A>GCA427568542CNGA3c.813A>G (p.Pro271=)
c.825A>G (p.Pro275=)
c.759A>G (p.Pro253=)
c.924A>G (p.Pro308=)
c.978A>G (p.Pro326=)
 dbSNP
2g.98395983A>TCA427568540CNGA3c.813A>T (p.Pro271=)
c.825A>T (p.Pro275=)
c.759A>T (p.Pro253=)
c.924A>T (p.Pro308=)
c.978A>T (p.Pro326=)
2g.98395984delCA2577045541CNGA3c.814del (p.Glu272LysfsTer2)
c.826del (p.Glu276LysfsTer2)
c.760del (p.Glu254LysfsTer2)
c.925del (p.Glu309LysfsTer2)
c.979del (p.Glu327LysfsTer2)
2g.98395984G>ACA347832198CNGA3c.814G>A (p.Glu272Lys)
c.826G>A (p.Glu276Lys)
c.760G>A (p.Glu254Lys)
c.925G>A (p.Glu309Lys)
c.979G>A (p.Glu327Lys)
2g.98395984G>CCA347832199CNGA3c.814G>C (p.Glu272Gln)
c.826G>C (p.Glu276Gln)
c.760G>C (p.Glu254Gln)
c.925G>C (p.Glu309Gln)
c.979G>C (p.Glu327Gln)
2g.98395984G>TCA347832200CNGA3c.814G>T (p.Glu272Ter)
c.826G>T (p.Glu276Ter)
c.760G>T (p.Glu254Ter)
c.925G>T (p.Glu309Ter)
c.979G>T (p.Glu327Ter)
 ClinVar
2g.98395985A>CCA347832201CNGA3c.815A>C (p.Glu272Ala)
c.827A>C (p.Glu276Ala)
c.761A>C (p.Glu254Ala)
c.926A>C (p.Glu309Ala)
c.980A>C (p.Glu327Ala)
2g.98395985A>GCA347832202CNGA3c.815A>G (p.Glu272Gly)
c.827A>G (p.Glu276Gly)
c.761A>G (p.Glu254Gly)
c.926A>G (p.Glu309Gly)
c.980A>G (p.Glu327Gly)
2g.98395985A>TCA347832203CNGA3c.815A>T (p.Glu272Val)
c.827A>T (p.Glu276Val)
c.761A>T (p.Glu254Val)
c.926A>T (p.Glu309Val)
c.980A>T (p.Glu327Val)
2g.98395986A>CCA347832204CNGA3c.816A>C (p.Glu272Asp)
c.828A>C (p.Glu276Asp)
c.762A>C (p.Glu254Asp)
c.927A>C (p.Glu309Asp)
c.981A>C (p.Glu327Asp)
2g.98395986A>GCA427568553CNGA3c.816A>G (p.Glu272=)
c.828A>G (p.Glu276=)
c.762A>G (p.Glu254=)
c.927A>G (p.Glu309=)
c.981A>G (p.Glu327=)
2g.98395986A>TCA347832205CNGA3c.816A>T (p.Glu272Asp)
c.828A>T (p.Glu276Asp)
c.762A>T (p.Glu254Asp)
c.927A>T (p.Glu309Asp)
c.981A>T (p.Glu327Asp)
2g.98395987G>ACA347832207CNGA3c.817G>A (p.Val273Met)
c.829G>A (p.Val277Met)
c.763G>A (p.Val255Met)
c.928G>A (p.Val310Met)
c.982G>A (p.Val328Met)
2g.98395987G>CCA347832208CNGA3c.817G>C (p.Val273Leu)
c.829G>C (p.Val277Leu)
c.763G>C (p.Val255Leu)
c.928G>C (p.Val310Leu)
c.982G>C (p.Val328Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.98395987G=CA1273419712CNGA3c.817G= (p.Val273=)
c.829G= (p.Val277=)
c.763G= (p.Val255=)
c.928G= (p.Val310=)
c.982G= (p.Val328=)
2g.98395987G>TCA347832206CNGA3c.817G>T (p.Val273Leu)
c.829G>T (p.Val277Leu)
c.763G>T (p.Val255Leu)
c.928G>T (p.Val310Leu)
c.982G>T (p.Val328Leu)
2g.98395988T>ACA347832209CNGA3c.818T>A (p.Val273Glu)
c.830T>A (p.Val277Glu)
c.764T>A (p.Val255Glu)
c.929T>A (p.Val310Glu)
c.983T>A (p.Val328Glu)
2g.98395988T>CCA347832211CNGA3c.818T>C (p.Val273Ala)
c.830T>C (p.Val277Ala)
c.764T>C (p.Val255Ala)
c.929T>C (p.Val310Ala)
c.983T>C (p.Val328Ala)
2g.98395988T>GCA347832210CNGA3c.818T>G (p.Val273Gly)
c.830T>G (p.Val277Gly)
c.764T>G (p.Val255Gly)
c.929T>G (p.Val310Gly)
c.983T>G (p.Val328Gly)
2g.98395989G>ACA427568561CNGA3c.819G>A (p.Val273=)
c.831G>A (p.Val277=)
c.765G>A (p.Val255=)
c.930G>A (p.Val310=)
c.984G>A (p.Val328=)
 dbSNP gnomAD v4 COSMIC
2g.98395989G>CCA427568563CNGA3c.819G>C (p.Val273=)
c.831G>C (p.Val277=)
c.765G>C (p.Val255=)
c.930G>C (p.Val310=)
c.984G>C (p.Val328=)
2g.98395989G=CA1273419713CNGA3c.819G= (p.Val273=)
c.831G= (p.Val277=)
c.765G= (p.Val255=)
c.930G= (p.Val310=)
c.984G= (p.Val328=)
2g.98395989G>TCA427568565CNGA3c.819G>T (p.Val273=)
c.831G>T (p.Val277=)
c.765G>T (p.Val255=)
c.930G>T (p.Val310=)
c.984G>T (p.Val328=)
2g.98395990A>CCA427568567CNGA3c.820A>C (p.Arg274=)
c.832A>C (p.Arg278=)
c.766A>C (p.Arg256=)
c.931A>C (p.Arg311=)
c.985A>C (p.Arg329=)
2g.98395990A>GCA347832212CNGA3c.820A>G (p.Arg274Gly)
c.832A>G (p.Arg278Gly)
c.766A>G (p.Arg256Gly)
c.931A>G (p.Arg311Gly)
c.985A>G (p.Arg329Gly)
2g.98395990A>TCA347832213CNGA3c.820A>T (p.Arg274Trp)
c.832A>T (p.Arg278Trp)
c.766A>T (p.Arg256Trp)
c.931A>T (p.Arg311Trp)
c.985A>T (p.Arg329Trp)
2g.98395991G>ACA347832214CNGA3c.821G>A (p.Arg274Lys)
c.833G>A (p.Arg278Lys)
c.767G>A (p.Arg256Lys)
c.932G>A (p.Arg311Lys)
c.986G>A (p.Arg329Lys)
2g.98395991G>CCA347832215CNGA3c.821G>C (p.Arg274Thr)
c.833G>C (p.Arg278Thr)
c.767G>C (p.Arg256Thr)
c.932G>C (p.Arg311Thr)
c.986G>C (p.Arg329Thr)
2g.98395991G>TCA347832216CNGA3c.821G>T (p.Arg274Met)
c.833G>T (p.Arg278Met)
c.767G>T (p.Arg256Met)
c.932G>T (p.Arg311Met)
c.986G>T (p.Arg329Met)
2g.98395992G>ACA1793902CNGA3c.822G>A (p.Arg274=)
c.834G>A (p.Arg278=)
c.768G>A (p.Arg256=)
c.933G>A (p.Arg311=)
c.987G>A (p.Arg329=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395992G>CCA347832217CNGA3c.822G>C (p.Arg274Ser)
c.834G>C (p.Arg278Ser)
c.768G>C (p.Arg256Ser)
c.933G>C (p.Arg311Ser)
c.987G>C (p.Arg329Ser)
2g.98395992G=CA1273419714CNGA3c.822G= (p.Arg274=)
c.834G= (p.Arg278=)
c.768G= (p.Arg256=)
c.933G= (p.Arg311=)
c.987G= (p.Arg329=)
2g.98395992G>TCA1793901CNGA3c.822G>T (p.Arg274Ser)
c.834G>T (p.Arg278Ser)
c.768G>T (p.Arg256Ser)
c.933G>T (p.Arg311Ser)
c.987G>T (p.Arg329Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395993T>ACA347832218CNGA3c.823T>A (p.Phe275Ile)
c.835T>A (p.Phe279Ile)
c.769T>A (p.Phe257Ile)
c.934T>A (p.Phe312Ile)
c.988T>A (p.Phe330Ile)
2g.98395993T>CCA347832219CNGA3c.823T>C (p.Phe275Leu)
c.835T>C (p.Phe279Leu)
c.769T>C (p.Phe257Leu)
c.934T>C (p.Phe312Leu)
c.988T>C (p.Phe330Leu)
2g.98395993T>GCA347832220CNGA3c.823T>G (p.Phe275Val)
c.835T>G (p.Phe279Val)
c.769T>G (p.Phe257Val)
c.934T>G (p.Phe312Val)
c.988T>G (p.Phe330Val)
2g.98395994T>ACA347832223CNGA3c.824T>A (p.Phe275Tyr)
c.836T>A (p.Phe279Tyr)
c.770T>A (p.Phe257Tyr)
c.935T>A (p.Phe312Tyr)
c.989T>A (p.Phe330Tyr)
2g.98395994T>CCA347832221CNGA3c.824T>C (p.Phe275Ser)
c.836T>C (p.Phe279Ser)
c.770T>C (p.Phe257Ser)
c.935T>C (p.Phe312Ser)
c.989T>C (p.Phe330Ser)
2g.98395994T>GCA347832222CNGA3c.824T>G (p.Phe275Cys)
c.836T>G (p.Phe279Cys)
c.770T>G (p.Phe257Cys)
c.935T>G (p.Phe312Cys)
c.989T>G (p.Phe330Cys)
2g.98395995C>ACA347832224CNGA3c.825C>A (p.Phe275Leu)
c.837C>A (p.Phe279Leu)
c.771C>A (p.Phe257Leu)
c.936C>A (p.Phe312Leu)
c.990C>A (p.Phe330Leu)
2g.98395995C=CA1273419715CNGA3c.825C= (p.Phe275=)
c.837C= (p.Phe279=)
c.771C= (p.Phe257=)
c.936C= (p.Phe312=)
c.990C= (p.Phe330=)
2g.98395995C>GCA1793903CNGA3c.825C>G (p.Phe275Leu)
c.837C>G (p.Phe279Leu)
c.771C>G (p.Phe257Leu)
c.936C>G (p.Phe312Leu)
c.990C>G (p.Phe330Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395995C>TCA427568588CNGA3c.825C>T (p.Phe275=)
c.837C>T (p.Phe279=)
c.771C>T (p.Phe257=)
c.936C>T (p.Phe312=)
c.990C>T (p.Phe330=)
2g.98395996A>CCA347832225CNGA3c.826A>C (p.Asn276His)
c.838A>C (p.Asn280His)
c.772A>C (p.Asn258His)
c.937A>C (p.Asn313His)
c.991A>C (p.Asn331His)
2g.98395996A>GCA347832226CNGA3c.826A>G (p.Asn276Asp)
c.838A>G (p.Asn280Asp)
c.772A>G (p.Asn258Asp)
c.937A>G (p.Asn313Asp)
c.991A>G (p.Asn331Asp)
2g.98395996A>TCA347832227CNGA3c.826A>T (p.Asn276Tyr)
c.838A>T (p.Asn280Tyr)
c.772A>T (p.Asn258Tyr)
c.937A>T (p.Asn313Tyr)
c.991A>T (p.Asn331Tyr)
2g.98395997A=CA1273419716CNGA3c.827A= (p.Asn276=)
c.839A= (p.Asn280=)
c.773A= (p.Asn258=)
c.938A= (p.Asn313=)
c.992A= (p.Asn331=)
2g.98395997A>CCA347832228CNGA3c.827A>C (p.Asn276Thr)
c.839A>C (p.Asn280Thr)
c.773A>C (p.Asn258Thr)
c.938A>C (p.Asn313Thr)
c.992A>C (p.Asn331Thr)
2g.98395997A>GCA270749CNGA3c.827A>G (p.Asn276Ser)
c.839A>G (p.Asn280Ser)
c.773A>G (p.Asn258Ser)
c.938A>G (p.Asn313Ser)
c.992A>G (p.Asn331Ser)
 ClinVar dbSNP gnomAD v4
2g.98395997A>TCA347832229CNGA3c.827A>T (p.Asn276Ile)
c.839A>T (p.Asn280Ile)
c.773A>T (p.Asn258Ile)
c.938A>T (p.Asn313Ile)
c.992A>T (p.Asn331Ile)
2g.98395998C>ACA347832230CNGA3c.828C>A (p.Asn276Lys)
c.840C>A (p.Asn280Lys)
c.774C>A (p.Asn258Lys)
c.939C>A (p.Asn313Lys)
c.993C>A (p.Asn331Lys)
2g.98395998C=CA1273419717CNGA3c.828C= (p.Asn276=)
c.840C= (p.Asn280=)
c.774C= (p.Asn258=)
c.939C= (p.Asn313=)
c.993C= (p.Asn331=)
2g.98395998C>GCA347832231CNGA3c.828C>G (p.Asn276Lys)
c.840C>G (p.Asn280Lys)
c.774C>G (p.Asn258Lys)
c.939C>G (p.Asn313Lys)
c.993C>G (p.Asn331Lys)
2g.98395998C>TCA427568603CNGA3c.828C>T (p.Asn276=)
c.840C>T (p.Asn280=)
c.774C>T (p.Asn258=)
c.939C>T (p.Asn313=)
c.993C>T (p.Asn331=)
 dbSNP
2g.98395999C>ACA347832232CNGA3c.829C>A (p.Arg277Ser)
c.841C>A (p.Arg281Ser)
c.775C>A (p.Arg259Ser)
c.940C>A (p.Arg314Ser)
c.994C>A (p.Arg332Ser)
2g.98395999C=CA1273419718CNGA3c.829C= (p.Arg277=)
c.841C= (p.Arg281=)
c.775C= (p.Arg259=)
c.940C= (p.Arg314=)
c.994C= (p.Arg332=)
2g.98395999C>GCA347832233CNGA3c.829C>G (p.Arg277Gly)
c.841C>G (p.Arg281Gly)
c.775C>G (p.Arg259Gly)
c.940C>G (p.Arg314Gly)
c.994C>G (p.Arg332Gly)
2g.98395999C>TCA254827CNGA3c.829C>T (p.Arg277Cys)
c.841C>T (p.Arg281Cys)
c.775C>T (p.Arg259Cys)
c.940C>T (p.Arg314Cys)
c.994C>T (p.Arg332Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched