Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98395861T>ACA347831933CNGA3c.691T>A (p.Leu231Ile)
c.703T>A (p.Leu235Ile)
c.637T>A (p.Leu213Ile)
c.802T>A (p.Leu268Ile)
c.856T>A (p.Leu286Ile)
2g.98395861T>CCA427568016CNGA3c.691T>C (p.Leu231=)
c.703T>C (p.Leu235=)
c.637T>C (p.Leu213=)
c.802T>C (p.Leu268=)
c.856T>C (p.Leu286=)
2g.98395861T>GCA347831934CNGA3c.691T>G (p.Leu231Val)
c.703T>G (p.Leu235Val)
c.637T>G (p.Leu213Val)
c.802T>G (p.Leu268Val)
c.856T>G (p.Leu286Val)
2g.98395862T>ACA347831935CNGA3c.692T>A (p.Leu231Ter)
c.704T>A (p.Leu235Ter)
c.638T>A (p.Leu213Ter)
c.803T>A (p.Leu268Ter)
c.857T>A (p.Leu286Ter)
2g.98395862T>CCA347831936CNGA3c.692T>C (p.Leu231Ser)
c.704T>C (p.Leu235Ser)
c.638T>C (p.Leu213Ser)
c.803T>C (p.Leu268Ser)
c.857T>C (p.Leu286Ser)
2g.98395862T>GCA347831937CNGA3c.692T>G (p.Leu231Ter)
c.704T>G (p.Leu235Ter)
c.638T>G (p.Leu213Ter)
c.803T>G (p.Leu268Ter)
c.857T>G (p.Leu286Ter)
2g.98395863A>CCA347831938CNGA3c.693A>C (p.Leu231Phe)
c.705A>C (p.Leu235Phe)
c.639A>C (p.Leu213Phe)
c.804A>C (p.Leu268Phe)
c.858A>C (p.Leu286Phe)
2g.98395863A>GCA427568022CNGA3c.693A>G (p.Leu231=)
c.705A>G (p.Leu235=)
c.639A>G (p.Leu213=)
c.804A>G (p.Leu268=)
c.858A>G (p.Leu286=)
2g.98395863A>TCA347831939CNGA3c.693A>T (p.Leu231Phe)
c.705A>T (p.Leu235Phe)
c.639A>T (p.Leu213Phe)
c.804A>T (p.Leu268Phe)
c.858A>T (p.Leu286Phe)
2g.98395864A>CCA347831940CNGA3c.694A>C (p.Met232Leu)
c.706A>C (p.Met236Leu)
c.640A>C (p.Met214Leu)
c.805A>C (p.Met269Leu)
c.859A>C (p.Met287Leu)
2g.98395864A>GCA347831941CNGA3c.694A>G (p.Met232Val)
c.706A>G (p.Met236Val)
c.640A>G (p.Met214Val)
c.805A>G (p.Met269Val)
c.859A>G (p.Met287Val)
2g.98395864A>TCA347831942CNGA3c.694A>T (p.Met232Leu)
c.706A>T (p.Met236Leu)
c.640A>T (p.Met214Leu)
c.805A>T (p.Met269Leu)
c.859A>T (p.Met287Leu)
2g.98395865T>ACA347831943CNGA3c.695T>A (p.Met232Lys)
c.707T>A (p.Met236Lys)
c.641T>A (p.Met214Lys)
c.806T>A (p.Met269Lys)
c.860T>A (p.Met287Lys)
2g.98395865T>CCA347831944CNGA3c.695T>C (p.Met232Thr)
c.707T>C (p.Met236Thr)
c.641T>C (p.Met214Thr)
c.806T>C (p.Met269Thr)
c.860T>C (p.Met287Thr)
 COSMIC
2g.98395865T>GCA347831945CNGA3c.695T>G (p.Met232Arg)
c.707T>G (p.Met236Arg)
c.641T>G (p.Met214Arg)
c.806T>G (p.Met269Arg)
c.860T>G (p.Met287Arg)
2g.98395866G>ACA52635177CNGA3c.696G>A (p.Met232Ile)
c.708G>A (p.Met236Ile)
c.642G>A (p.Met214Ile)
c.807G>A (p.Met269Ile)
c.861G>A (p.Met287Ile)
 dbSNP
2g.98395866G>CCA347831947CNGA3c.696G>C (p.Met232Ile)
c.708G>C (p.Met236Ile)
c.642G>C (p.Met214Ile)
c.807G>C (p.Met269Ile)
c.861G>C (p.Met287Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395866G=CA1273419663CNGA3c.696G= (p.Met232=)
c.708G= (p.Met236=)
c.642G= (p.Met214=)
c.807G= (p.Met269=)
c.861G= (p.Met287=)
2g.98395866G>TCA347831946CNGA3c.696G>T (p.Met232Ile)
c.708G>T (p.Met236Ile)
c.642G>T (p.Met214Ile)
c.807G>T (p.Met269Ile)
c.861G>T (p.Met287Ile)
2g.98395867G>ACA347831948CNGA3c.697G>A (p.Val233Ile)
c.709G>A (p.Val237Ile)
c.643G>A (p.Val215Ile)
c.808G>A (p.Val270Ile)
c.862G>A (p.Val288Ile)
2g.98395867G>CCA347831949CNGA3c.697G>C (p.Val233Leu)
c.709G>C (p.Val237Leu)
c.643G>C (p.Val215Leu)
c.808G>C (p.Val270Leu)
c.862G>C (p.Val288Leu)
2g.98395867G>TCA347831950CNGA3c.697G>T (p.Val233Phe)
c.709G>T (p.Val237Phe)
c.643G>T (p.Val215Phe)
c.808G>T (p.Val270Phe)
c.862G>T (p.Val288Phe)
2g.98395868T>ACA347831951CNGA3c.698T>A (p.Val233Asp)
c.710T>A (p.Val237Asp)
c.644T>A (p.Val215Asp)
c.809T>A (p.Val270Asp)
c.863T>A (p.Val288Asp)
2g.98395868T>CCA347831952CNGA3c.698T>C (p.Val233Ala)
c.710T>C (p.Val237Ala)
c.644T>C (p.Val215Ala)
c.809T>C (p.Val270Ala)
c.863T>C (p.Val288Ala)
2g.98395868T>GCA347831953CNGA3c.698T>G (p.Val233Gly)
c.710T>G (p.Val237Gly)
c.644T>G (p.Val215Gly)
c.809T>G (p.Val270Gly)
c.863T>G (p.Val288Gly)
2g.98395869C>ACA427568043CNGA3c.699C>A (p.Val233=)
c.711C>A (p.Val237=)
c.645C>A (p.Val215=)
c.810C>A (p.Val270=)
c.864C>A (p.Val288=)
 gnomAD v4
2g.98395869C>GCA427568045CNGA3c.699C>G (p.Val233=)
c.711C>G (p.Val237=)
c.645C>G (p.Val215=)
c.810C>G (p.Val270=)
c.864C>G (p.Val288=)
2g.98395869C>TCA427568047CNGA3c.699C>T (p.Val233=)
c.711C>T (p.Val237=)
c.645C>T (p.Val215=)
c.810C>T (p.Val270=)
c.864C>T (p.Val288=)
 gnomAD v4
2g.98395870A>CCA347831956CNGA3c.700A>C (p.Ser234Arg)
c.712A>C (p.Ser238Arg)
c.646A>C (p.Ser216Arg)
c.811A>C (p.Ser271Arg)
c.865A>C (p.Ser289Arg)
2g.98395870A>GCA347831954CNGA3c.700A>G (p.Ser234Gly)
c.712A>G (p.Ser238Gly)
c.646A>G (p.Ser216Gly)
c.811A>G (p.Ser271Gly)
c.865A>G (p.Ser289Gly)
 gnomAD v4
2g.98395870A>TCA347831955CNGA3c.700A>T (p.Ser234Cys)
c.712A>T (p.Ser238Cys)
c.646A>T (p.Ser216Cys)
c.811A>T (p.Ser271Cys)
c.865A>T (p.Ser289Cys)
2g.98395871G>ACA347831957CNGA3c.701G>A (p.Ser234Asn)
c.713G>A (p.Ser238Asn)
c.647G>A (p.Ser216Asn)
c.812G>A (p.Ser271Asn)
c.866G>A (p.Ser289Asn)
 gnomAD v4
2g.98395871G>CCA347831958CNGA3c.701G>C (p.Ser234Thr)
c.713G>C (p.Ser238Thr)
c.647G>C (p.Ser216Thr)
c.812G>C (p.Ser271Thr)
c.866G>C (p.Ser289Thr)
2g.98395871G>TCA347831959CNGA3c.701G>T (p.Ser234Ile)
c.713G>T (p.Ser238Ile)
c.647G>T (p.Ser216Ile)
c.812G>T (p.Ser271Ile)
c.866G>T (p.Ser289Ile)
2g.98395872T>ACA347831960CNGA3c.702T>A (p.Ser234Arg)
c.714T>A (p.Ser238Arg)
c.648T>A (p.Ser216Arg)
c.813T>A (p.Ser271Arg)
c.867T>A (p.Ser289Arg)
2g.98395872T>CCA427568059CNGA3c.702T>C (p.Ser234=)
c.714T>C (p.Ser238=)
c.648T>C (p.Ser216=)
c.813T>C (p.Ser271=)
c.867T>C (p.Ser289=)
 ClinVar
2g.98395872T>GCA347831961CNGA3c.702T>G (p.Ser234Arg)
c.714T>G (p.Ser238Arg)
c.648T>G (p.Ser216Arg)
c.813T>G (p.Ser271Arg)
c.867T>G (p.Ser289Arg)
2g.98395873G>ACA347831962CNGA3c.703G>A (p.Asp235Asn)
c.715G>A (p.Asp239Asn)
c.649G>A (p.Asp217Asn)
c.814G>A (p.Asp272Asn)
c.868G>A (p.Asp290Asn)
2g.98395873G>CCA347831964CNGA3c.703G>C (p.Asp235His)
c.715G>C (p.Asp239His)
c.649G>C (p.Asp217His)
c.814G>C (p.Asp272His)
c.868G>C (p.Asp290His)
2g.98395873G>TCA347831963CNGA3c.703G>T (p.Asp235Tyr)
c.715G>T (p.Asp239Tyr)
c.649G>T (p.Asp217Tyr)
c.814G>T (p.Asp272Tyr)
c.868G>T (p.Asp290Tyr)
2g.98395874A=CA1273419664CNGA3c.704A= (p.Asp235=)
c.716A= (p.Asp239=)
c.650A= (p.Asp217=)
c.815A= (p.Asp272=)
c.869A= (p.Asp290=)
2g.98395874A>CCA347831965CNGA3c.704A>C (p.Asp235Ala)
c.716A>C (p.Asp239Ala)
c.650A>C (p.Asp217Ala)
c.815A>C (p.Asp272Ala)
c.869A>C (p.Asp290Ala)
2g.98395874A>GCA347831966CNGA3c.704A>G (p.Asp235Gly)
c.716A>G (p.Asp239Gly)
c.650A>G (p.Asp217Gly)
c.815A>G (p.Asp272Gly)
c.869A>G (p.Asp290Gly)
2g.98395874A>TCA347831967CNGA3c.704A>T (p.Asp235Val)
c.716A>T (p.Asp239Val)
c.650A>T (p.Asp217Val)
c.815A>T (p.Asp272Val)
c.869A>T (p.Asp290Val)
 ClinVar dbSNP
2g.98395875_98395876dupCA2580068350CNGA3c.705_706dup (p.Thr236IlefsTer30)
c.717_718dup (p.Thr240IlefsTer30)
c.651_652dup (p.Thr218IlefsTer30)
c.816_817dup (p.Thr273IlefsTer30)
c.870_871dup (p.Thr291IlefsTer30)
 ClinVar
2g.98395875T>ACA347831968CNGA3c.705T>A (p.Asp235Glu)
c.717T>A (p.Asp239Glu)
c.651T>A (p.Asp217Glu)
c.816T>A (p.Asp272Glu)
c.870T>A (p.Asp290Glu)
2g.98395875T>CCA427568072CNGA3c.705T>C (p.Asp235=)
c.717T>C (p.Asp239=)
c.651T>C (p.Asp217=)
c.816T>C (p.Asp272=)
c.870T>C (p.Asp290=)
 gnomAD v4
2g.98395875T>GCA347831969CNGA3c.705T>G (p.Asp235Glu)
c.717T>G (p.Asp239Glu)
c.651T>G (p.Asp217Glu)
c.816T>G (p.Asp272Glu)
c.870T>G (p.Asp290Glu)
2g.98395876A>CCA347831970CNGA3c.706A>C (p.Thr236Pro)
c.718A>C (p.Thr240Pro)
c.652A>C (p.Thr218Pro)
c.817A>C (p.Thr273Pro)
c.871A>C (p.Thr291Pro)
2g.98395876A>GCA347831971CNGA3c.706A>G (p.Thr236Ala)
c.718A>G (p.Thr240Ala)
c.652A>G (p.Thr218Ala)
c.817A>G (p.Thr273Ala)
c.871A>G (p.Thr291Ala)
 gnomAD v4
2g.98395876A>TCA347831972CNGA3c.706A>T (p.Thr236Ser)
c.718A>T (p.Thr240Ser)
c.652A>T (p.Thr218Ser)
c.817A>T (p.Thr273Ser)
c.871A>T (p.Thr291Ser)
2g.98395877C>ACA347831973CNGA3c.707C>A (p.Thr236Asn)
c.719C>A (p.Thr240Asn)
c.653C>A (p.Thr218Asn)
c.818C>A (p.Thr273Asn)
c.872C>A (p.Thr291Asn)
 gnomAD v4
2g.98395877C>GCA347831974CNGA3c.707C>G (p.Thr236Ser)
c.719C>G (p.Thr240Ser)
c.653C>G (p.Thr218Ser)
c.818C>G (p.Thr273Ser)
c.872C>G (p.Thr291Ser)
2g.98395877C>TCA347831975CNGA3c.707C>T (p.Thr236Ile)
c.719C>T (p.Thr240Ile)
c.653C>T (p.Thr218Ile)
c.818C>T (p.Thr273Ile)
c.872C>T (p.Thr291Ile)
2g.98395878C>ACA427568084CNGA3c.708C>A (p.Thr236=)
c.720C>A (p.Thr240=)
c.654C>A (p.Thr218=)
c.819C>A (p.Thr273=)
c.873C>A (p.Thr291=)
2g.98395878C>GCA427568085CNGA3c.708C>G (p.Thr236=)
c.720C>G (p.Thr240=)
c.654C>G (p.Thr218=)
c.819C>G (p.Thr273=)
c.873C>G (p.Thr291=)
 gnomAD v4
2g.98395878C>TCA427568087CNGA3c.708C>T (p.Thr236=)
c.720C>T (p.Thr240=)
c.654C>T (p.Thr218=)
c.819C>T (p.Thr273=)
c.873C>T (p.Thr291=)
 gnomAD v4
2g.98395879A>CCA347831978CNGA3c.709A>C (p.Asn237His)
c.721A>C (p.Asn241His)
c.655A>C (p.Asn219His)
c.820A>C (p.Asn274His)
c.874A>C (p.Asn292His)
2g.98395879A>GCA347831976CNGA3c.709A>G (p.Asn237Asp)
c.721A>G (p.Asn241Asp)
c.655A>G (p.Asn219Asp)
c.820A>G (p.Asn274Asp)
c.874A>G (p.Asn292Asp)
2g.98395879A>TCA347831977CNGA3c.709A>T (p.Asn237Tyr)
c.721A>T (p.Asn241Tyr)
c.655A>T (p.Asn219Tyr)
c.820A>T (p.Asn274Tyr)
c.874A>T (p.Asn292Tyr)
2g.98395880A>CCA347831979CNGA3c.710A>C (p.Asn237Thr)
c.722A>C (p.Asn241Thr)
c.656A>C (p.Asn219Thr)
c.821A>C (p.Asn274Thr)
c.875A>C (p.Asn292Thr)
2g.98395880A>GCA347831980CNGA3c.710A>G (p.Asn237Ser)
c.722A>G (p.Asn241Ser)
c.656A>G (p.Asn219Ser)
c.821A>G (p.Asn274Ser)
c.875A>G (p.Asn292Ser)
 gnomAD v4
2g.98395880A>TCA347831981CNGA3c.710A>T (p.Asn237Ile)
c.722A>T (p.Asn241Ile)
c.656A>T (p.Asn219Ile)
c.821A>T (p.Asn274Ile)
c.875A>T (p.Asn292Ile)
2g.98395881C>ACA347831982CNGA3c.711C>A (p.Asn237Lys)
c.723C>A (p.Asn241Lys)
c.657C>A (p.Asn219Lys)
c.822C>A (p.Asn274Lys)
c.876C>A (p.Asn292Lys)
2g.98395881C=CA1273419665CNGA3c.711C= (p.Asn237=)
c.723C= (p.Asn241=)
c.657C= (p.Asn219=)
c.822C= (p.Asn274=)
c.876C= (p.Asn292=)
2g.98395881C>GCA347831983CNGA3c.711C>G (p.Asn237Lys)
c.723C>G (p.Asn241Lys)
c.657C>G (p.Asn219Lys)
c.822C>G (p.Asn274Lys)
c.876C>G (p.Asn292Lys)
2g.98395881C>TCA1793879CNGA3c.711C>T (p.Asn237=)
c.723C>T (p.Asn241=)
c.657C>T (p.Asn219=)
c.822C>T (p.Asn274=)
c.876C>T (p.Asn292=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395882A>CCA427568096CNGA3c.712A>C (p.Arg238=)
c.724A>C (p.Arg242=)
c.658A>C (p.Arg220=)
c.823A>C (p.Arg275=)
c.877A>C (p.Arg293=)
2g.98395882A>GCA347831984CNGA3c.712A>G (p.Arg238Gly)
c.724A>G (p.Arg242Gly)
c.658A>G (p.Arg220Gly)
c.823A>G (p.Arg275Gly)
c.877A>G (p.Arg293Gly)
2g.98395882A>TCA347831985CNGA3c.712A>T (p.Arg238Trp)
c.724A>T (p.Arg242Trp)
c.658A>T (p.Arg220Trp)
c.823A>T (p.Arg275Trp)
c.877A>T (p.Arg293Trp)
2g.98395883G>ACA347831986CNGA3c.713G>A (p.Arg238Lys)
c.725G>A (p.Arg242Lys)
c.659G>A (p.Arg220Lys)
c.824G>A (p.Arg275Lys)
c.878G>A (p.Arg293Lys)
2g.98395883G>CCA347831988CNGA3c.713G>C (p.Arg238Thr)
c.725G>C (p.Arg242Thr)
c.659G>C (p.Arg220Thr)
c.824G>C (p.Arg275Thr)
c.878G>C (p.Arg293Thr)
2g.98395883G>TCA347831987CNGA3c.713G>T (p.Arg238Met)
c.725G>T (p.Arg242Met)
c.659G>T (p.Arg220Met)
c.824G>T (p.Arg275Met)
c.878G>T (p.Arg293Met)
2g.98395884G>ACA427568105CNGA3c.714G>A (p.Arg238=)
c.726G>A (p.Arg242=)
c.660G>A (p.Arg220=)
c.825G>A (p.Arg275=)
c.879G>A (p.Arg293=)
2g.98395884G>CCA347831989CNGA3c.714G>C (p.Arg238Ser)
c.726G>C (p.Arg242Ser)
c.660G>C (p.Arg220Ser)
c.825G>C (p.Arg275Ser)
c.879G>C (p.Arg293Ser)
2g.98395884G>TCA347831990CNGA3c.714G>T (p.Arg238Ser)
c.726G>T (p.Arg242Ser)
c.660G>T (p.Arg220Ser)
c.825G>T (p.Arg275Ser)
c.879G>T (p.Arg293Ser)
2g.98395885C>ACA347831991CNGA3c.715C>A (p.Leu239Met)
c.727C>A (p.Leu243Met)
c.661C>A (p.Leu221Met)
c.826C>A (p.Leu276Met)
c.880C>A (p.Leu294Met)
2g.98395885C=CA1273419666CNGA3c.715C= (p.Leu239=)
c.727C= (p.Leu243=)
c.661C= (p.Leu221=)
c.826C= (p.Leu276=)
c.880C= (p.Leu294=)
2g.98395885C>GCA1793880CNGA3c.715C>G (p.Leu239Val)
c.727C>G (p.Leu243Val)
c.661C>G (p.Leu221Val)
c.826C>G (p.Leu276Val)
c.880C>G (p.Leu294Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395885C>TCA1793881CNGA3c.715C>T (p.Leu239=)
c.727C>T (p.Leu243=)
c.661C>T (p.Leu221=)
c.826C>T (p.Leu276=)
c.880C>T (p.Leu294=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395886T>ACA347831992CNGA3c.716T>A (p.Leu239Gln)
c.728T>A (p.Leu243Gln)
c.662T>A (p.Leu221Gln)
c.827T>A (p.Leu276Gln)
c.881T>A (p.Leu294Gln)
2g.98395886T>CCA347831994CNGA3c.716T>C (p.Leu239Pro)
c.728T>C (p.Leu243Pro)
c.662T>C (p.Leu221Pro)
c.827T>C (p.Leu276Pro)
c.881T>C (p.Leu294Pro)
2g.98395886T>GCA347831993CNGA3c.716T>G (p.Leu239Arg)
c.728T>G (p.Leu243Arg)
c.662T>G (p.Leu221Arg)
c.827T>G (p.Leu276Arg)
c.881T>G (p.Leu294Arg)
2g.98395887G>ACA52635183CNGA3c.717G>A (p.Leu239=)
c.729G>A (p.Leu243=)
c.663G>A (p.Leu221=)
c.828G>A (p.Leu276=)
c.882G>A (p.Leu294=)
 ClinVar dbSNP gnomAD v4
2g.98395887G>CCA427568121CNGA3c.717G>C (p.Leu239=)
c.729G>C (p.Leu243=)
c.663G>C (p.Leu221=)
c.828G>C (p.Leu276=)
c.882G>C (p.Leu294=)
2g.98395887G=CA1273419667CNGA3c.717G= (p.Leu239=)
c.729G= (p.Leu243=)
c.663G= (p.Leu221=)
c.828G= (p.Leu276=)
c.882G= (p.Leu294=)
2g.98395887G>TCA427568123CNGA3c.717G>T (p.Leu239=)
c.729G>T (p.Leu243=)
c.663G>T (p.Leu221=)
c.828G>T (p.Leu276=)
c.882G>T (p.Leu294=)
2g.98395888T>ACA347831995CNGA3c.718T>A (p.Trp240Arg)
c.730T>A (p.Trp244Arg)
c.664T>A (p.Trp222Arg)
c.829T>A (p.Trp277Arg)
c.883T>A (p.Trp295Arg)
2g.98395888T>CCA347831996CNGA3c.718T>C (p.Trp240Arg)
c.730T>C (p.Trp244Arg)
c.664T>C (p.Trp222Arg)
c.829T>C (p.Trp277Arg)
c.883T>C (p.Trp295Arg)
2g.98395888T>GCA347831997CNGA3c.718T>G (p.Trp240Gly)
c.730T>G (p.Trp244Gly)
c.664T>G (p.Trp222Gly)
c.829T>G (p.Trp277Gly)
c.883T>G (p.Trp295Gly)
2g.98395889G>ACA347831998CNGA3c.719G>A (p.Trp240Ter)
c.731G>A (p.Trp244Ter)
c.665G>A (p.Trp222Ter)
c.830G>A (p.Trp277Ter)
c.884G>A (p.Trp295Ter)
 ClinVar
2g.98395889G>CCA347831999CNGA3c.719G>C (p.Trp240Ser)
c.731G>C (p.Trp244Ser)
c.665G>C (p.Trp222Ser)
c.830G>C (p.Trp277Ser)
c.884G>C (p.Trp295Ser)
2g.98395889G>TCA347832000CNGA3c.719G>T (p.Trp240Leu)
c.731G>T (p.Trp244Leu)
c.665G>T (p.Trp222Leu)
c.830G>T (p.Trp277Leu)
c.884G>T (p.Trp295Leu)
2g.98395890G>ACA347832001CNGA3c.720G>A (p.Trp240Ter)
c.732G>A (p.Trp244Ter)
c.666G>A (p.Trp222Ter)
c.831G>A (p.Trp277Ter)
c.885G>A (p.Trp295Ter)
 COSMIC
2g.98395890G>CCA347832002CNGA3c.720G>C (p.Trp240Cys)
c.732G>C (p.Trp244Cys)
c.666G>C (p.Trp222Cys)
c.831G>C (p.Trp277Cys)
c.885G>C (p.Trp295Cys)
2g.98395890G>TCA347832003CNGA3c.720G>T (p.Trp240Cys)
c.732G>T (p.Trp244Cys)
c.666G>T (p.Trp222Cys)
c.831G>T (p.Trp277Cys)
c.885G>T (p.Trp295Cys)
2g.98395891C>ACA347832004CNGA3c.721C>A (p.Gln241Lys)
c.733C>A (p.Gln245Lys)
c.667C>A (p.Gln223Lys)
c.832C>A (p.Gln278Lys)
c.886C>A (p.Gln296Lys)
2g.98395891C=CA1273419668CNGA3c.721C= (p.Gln241=)
c.733C= (p.Gln245=)
c.667C= (p.Gln223=)
c.832C= (p.Gln278=)
c.886C= (p.Gln296=)
2g.98395891C>GCA347832005CNGA3c.721C>G (p.Gln241Glu)
c.733C>G (p.Gln245Glu)
c.667C>G (p.Gln223Glu)
c.832C>G (p.Gln278Glu)
c.886C>G (p.Gln296Glu)
2g.98395891C>TCA347832006CNGA3c.721C>T (p.Gln241Ter)
c.733C>T (p.Gln245Ter)
c.667C>T (p.Gln223Ter)
c.832C>T (p.Gln278Ter)
c.886C>T (p.Gln296Ter)
 dbSNP gnomAD v4
2g.98395892A>CCA347832007CNGA3c.722A>C (p.Gln241Pro)
c.734A>C (p.Gln245Pro)
c.668A>C (p.Gln223Pro)
c.833A>C (p.Gln278Pro)
c.887A>C (p.Gln296Pro)
2g.98395892A>GCA347832009CNGA3c.722A>G (p.Gln241Arg)
c.734A>G (p.Gln245Arg)
c.668A>G (p.Gln223Arg)
c.833A>G (p.Gln278Arg)
c.887A>G (p.Gln296Arg)
2g.98395892A>TCA347832008CNGA3c.722A>T (p.Gln241Leu)
c.734A>T (p.Gln245Leu)
c.668A>T (p.Gln223Leu)
c.833A>T (p.Gln278Leu)
c.887A>T (p.Gln296Leu)
2g.98395893G>ACA427568142CNGA3c.723G>A (p.Gln241=)
c.735G>A (p.Gln245=)
c.669G>A (p.Gln223=)
c.834G>A (p.Gln278=)
c.888G>A (p.Gln296=)
2g.98395893G>CCA347832010CNGA3c.723G>C (p.Gln241His)
c.735G>C (p.Gln245His)
c.669G>C (p.Gln223His)
c.834G>C (p.Gln278His)
c.888G>C (p.Gln296His)
2g.98395893G>TCA347832011CNGA3c.723G>T (p.Gln241His)
c.735G>T (p.Gln245His)
c.669G>T (p.Gln223His)
c.834G>T (p.Gln278His)
c.888G>T (p.Gln296His)
2g.98395894C>ACA347832012CNGA3c.724C>A (p.His242Asn)
c.736C>A (p.His246Asn)
c.670C>A (p.His224Asn)
c.835C>A (p.His279Asn)
c.889C>A (p.His297Asn)
2g.98395894C=CA1273419669CNGA3c.724C= (p.His242=)
c.736C= (p.His246=)
c.670C= (p.His224=)
c.835C= (p.His279=)
c.889C= (p.His297=)
2g.98395894C>GCA1793882CNGA3c.724C>G (p.His242Asp)
c.736C>G (p.His246Asp)
c.670C>G (p.His224Asp)
c.835C>G (p.His279Asp)
c.889C>G (p.His297Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395894C>TCA347832013CNGA3c.724C>T (p.His242Tyr)
c.736C>T (p.His246Tyr)
c.670C>T (p.His224Tyr)
c.835C>T (p.His279Tyr)
c.889C>T (p.His297Tyr)
2g.98395895A>CCA347832014CNGA3c.725A>C (p.His242Pro)
c.737A>C (p.His246Pro)
c.671A>C (p.His224Pro)
c.836A>C (p.His279Pro)
c.890A>C (p.His297Pro)
2g.98395895A>GCA347832015CNGA3c.725A>G (p.His242Arg)
c.737A>G (p.His246Arg)
c.671A>G (p.His224Arg)
c.836A>G (p.His279Arg)
c.890A>G (p.His297Arg)
2g.98395895A>TCA347832016CNGA3c.725A>T (p.His242Leu)
c.737A>T (p.His246Leu)
c.671A>T (p.His224Leu)
c.836A>T (p.His279Leu)
c.890A>T (p.His297Leu)
2g.98395896T>ACA347832017CNGA3c.726T>A (p.His242Gln)
c.738T>A (p.His246Gln)
c.672T>A (p.His224Gln)
c.837T>A (p.His279Gln)
c.891T>A (p.His297Gln)
2g.98395896T>CCA427568156CNGA3c.726T>C (p.His242=)
c.738T>C (p.His246=)
c.672T>C (p.His224=)
c.837T>C (p.His279=)
c.891T>C (p.His297=)
2g.98395896T>GCA347832018CNGA3c.726T>G (p.His242Gln)
c.738T>G (p.His246Gln)
c.672T>G (p.His224Gln)
c.837T>G (p.His279Gln)
c.891T>G (p.His297Gln)
2g.98395897T>ACA347832019CNGA3c.727T>A (p.Tyr243Asn)
c.739T>A (p.Tyr247Asn)
c.673T>A (p.Tyr225Asn)
c.838T>A (p.Tyr280Asn)
c.892T>A (p.Tyr298Asn)
2g.98395897T>CCA347832020CNGA3c.727T>C (p.Tyr243His)
c.739T>C (p.Tyr247His)
c.673T>C (p.Tyr225His)
c.838T>C (p.Tyr280His)
c.892T>C (p.Tyr298His)
2g.98395897T>GCA347832021CNGA3c.727T>G (p.Tyr243Asp)
c.739T>G (p.Tyr247Asp)
c.673T>G (p.Tyr225Asp)
c.838T>G (p.Tyr280Asp)
c.892T>G (p.Tyr298Asp)
2g.98395898A>CCA347832024CNGA3c.728A>C (p.Tyr243Ser)
c.740A>C (p.Tyr247Ser)
c.674A>C (p.Tyr225Ser)
c.839A>C (p.Tyr280Ser)
c.893A>C (p.Tyr298Ser)
2g.98395898A>GCA347832022CNGA3c.728A>G (p.Tyr243Cys)
c.740A>G (p.Tyr247Cys)
c.674A>G (p.Tyr225Cys)
c.839A>G (p.Tyr280Cys)
c.893A>G (p.Tyr298Cys)
2g.98395898A>TCA347832023CNGA3c.728A>T (p.Tyr243Phe)
c.740A>T (p.Tyr247Phe)
c.674A>T (p.Tyr225Phe)
c.839A>T (p.Tyr280Phe)
c.893A>T (p.Tyr298Phe)
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=)

Number of alleles fetched