Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98395830_98395833delinsATCTCA1273419649CNGA3c.674-14_674-11delinsATCT (n.674-14_674-11delinsATCT)
c.686-14_686-11delinsATCT (n.686-14_686-11delinsATCT)
c.620-14_620-11delinsATCT (n.620-14_620-11delinsATCT)
c.785-14_785-11delinsATCT (n.785-14_785-11delinsATCT)
c.839-14_839-11delinsATCT (n.839-14_839-11delinsATCT)
2g.98395838_98395840delCA535104041CNGA3c.674-6_674-4del (n.674-6_674-4del)
c.686-6_686-4del (n.686-6_686-4del)
c.620-6_620-4del (n.620-6_620-4del)
c.785-6_785-4del (n.785-6_785-4del)
c.839-6_839-4del (n.839-6_839-4del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395833T>ACA1273419652CNGA3c.674-11T>A (n.674-11T>A)
c.686-11T>A (n.686-11T>A)
c.620-11T>A (n.620-11T>A)
c.785-11T>A (n.785-11T>A)
c.839-11T>A (n.839-11T>A)
 dbSNP
2g.98395833T=CA1273419651CNGA3c.674-11T= (n.674-11T=)
c.686-11T= (n.686-11T=)
c.620-11T= (n.620-11T=)
c.785-11T= (n.785-11T=)
c.839-11T= (n.839-11T=)
2g.98395834T>GCA1793874CNGA3c.674-10T>G (n.674-10T>G)
c.686-10T>G (n.686-10T>G)
c.620-10T>G (n.620-10T>G)
c.785-10T>G (n.785-10T>G)
c.839-10T>G (n.839-10T>G)
 dbSNP ExAC
2g.98395834T=CA1273419653CNGA3c.674-10T= (n.674-10T=)
c.686-10T= (n.686-10T=)
c.620-10T= (n.620-10T=)
c.785-10T= (n.785-10T=)
c.839-10T= (n.839-10T=)
2g.98395835C>TCA2660313261CNGA3c.674-9C>T (n.674-9C>T)
c.686-9C>T (n.686-9C>T)
c.620-9C>T (n.620-9C>T)
c.785-9C>T (n.785-9C>T)
c.839-9C>T (n.839-9C>T)
 gnomAD v4
2g.98395837T>GCA52635163CNGA3c.674-7T>G (n.674-7T>G)
c.686-7T>G (n.686-7T>G)
c.620-7T>G (n.620-7T>G)
c.785-7T>G (n.785-7T>G)
c.839-7T>G (n.839-7T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.98395837T=CA1273419654CNGA3c.674-7T= (n.674-7T=)
c.686-7T= (n.686-7T=)
c.620-7T= (n.620-7T=)
c.785-7T= (n.785-7T=)
c.839-7T= (n.839-7T=)
2g.98395838C>TCA2660313262CNGA3c.674-6C>T (n.674-6C>T)
c.686-6C>T (n.686-6C>T)
c.620-6C>T (n.620-6C>T)
c.785-6C>T (n.785-6C>T)
c.839-6C>T (n.839-6C>T)
 gnomAD v4
2g.98395839T>CCA2660313263CNGA3c.674-5T>C (n.674-5T>C)
c.686-5T>C (n.686-5T>C)
c.620-5T>C (n.620-5T>C)
c.785-5T>C (n.785-5T>C)
c.839-5T>C (n.839-5T>C)
 gnomAD v4
2g.98395841T>CCA1793875CNGA3c.674-3T>C (n.674-3T>C)
c.686-3T>C (n.686-3T>C)
c.620-3T>C (n.620-3T>C)
c.785-3T>C (n.785-3T>C)
c.839-3T>C (n.839-3T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395841T=CA1273419655CNGA3c.674-3T= (n.674-3T=)
c.686-3T= (n.686-3T=)
c.620-3T= (n.620-3T=)
c.785-3T= (n.785-3T=)
c.839-3T= (n.839-3T=)
2g.98395842A>CCA347831894CNGA3c.674-2A>C (n.674-2A>C)
c.686-2A>C (n.686-2A>C)
c.620-2A>C (n.620-2A>C)
c.785-2A>C (n.785-2A>C)
c.839-2A>C (n.839-2A>C)
2g.98395842A>GCA347831893CNGA3c.674-2A>G (n.674-2A>G)
c.686-2A>G (n.686-2A>G)
c.620-2A>G (n.620-2A>G)
c.785-2A>G (n.785-2A>G)
c.839-2A>G (n.839-2A>G)
2g.98395842A>TCA347831892CNGA3c.674-2A>T (n.674-2A>T)
c.686-2A>T (n.686-2A>T)
c.620-2A>T (n.620-2A>T)
c.785-2A>T (n.785-2A>T)
c.839-2A>T (n.839-2A>T)
2g.98395843G>ACA347831895CNGA3c.674-1G>A (n.674-1G>A)
c.686-1G>A (n.686-1G>A)
c.620-1G>A (n.620-1G>A)
c.785-1G>A (n.785-1G>A)
c.839-1G>A (n.839-1G>A)
 ClinVar dbSNP gnomAD v4
2g.98395843G>CCA52635169CNGA3c.674-1G>C (n.674-1G>C)
c.686-1G>C (n.686-1G>C)
c.620-1G>C (n.620-1G>C)
c.785-1G>C (n.785-1G>C)
c.839-1G>C (n.839-1G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395843G=CA1273419656CNGA3c.674-1G= (n.674-1G=)
c.686-1G= (n.686-1G=)
c.620-1G= (n.620-1G=)
c.785-1G= (n.785-1G=)
c.839-1G= (n.839-1G=)
2g.98395843G>TCA347831896CNGA3c.674-1G>T (n.674-1G>T)
c.686-1G>T (n.686-1G>T)
c.620-1G>T (n.620-1G>T)
c.785-1G>T (n.785-1G>T)
c.839-1G>T (n.839-1G>T)
2g.98395844G>ACA347831897CNGA3c.674G>A (p.Gly225Asp)
c.686G>A (p.Gly229Asp)
c.620G>A (p.Gly207Asp)
c.785G>A (p.Gly262Asp)
c.839G>A (p.Gly280Asp)
2g.98395844G>CCA347831898CNGA3c.674G>C (p.Gly225Ala)
c.686G>C (p.Gly229Ala)
c.620G>C (p.Gly207Ala)
c.785G>C (p.Gly262Ala)
c.839G>C (p.Gly280Ala)
2g.98395844G>TCA347831899CNGA3c.674G>T (p.Gly225Val)
c.686G>T (p.Gly229Val)
c.620G>T (p.Gly207Val)
c.785G>T (p.Gly262Val)
c.839G>T (p.Gly280Val)
2g.98395845T>ACA427567936CNGA3c.675T>A (p.Gly225=)
c.687T>A (p.Gly229=)
c.621T>A (p.Gly207=)
c.786T>A (p.Gly262=)
c.840T>A (p.Gly280=)
 dbSNP
2g.98395845T>CCA427567946CNGA3c.675T>C (p.Gly225=)
c.687T>C (p.Gly229=)
c.621T>C (p.Gly207=)
c.786T>C (p.Gly262=)
c.840T>C (p.Gly280=)
2g.98395845T>GCA427567938CNGA3c.675T>G (p.Gly225=)
c.687T>G (p.Gly229=)
c.621T>G (p.Gly207=)
c.786T>G (p.Gly262=)
c.840T>G (p.Gly280=)
2g.98395845T=CA1273419657CNGA3c.675T= (p.Gly225=)
c.687T= (p.Gly229=)
c.621T= (p.Gly207=)
c.786T= (p.Gly262=)
c.840T= (p.Gly280=)
2g.98395846T>ACA347831900CNGA3c.676T>A (p.Phe226Ile)
c.688T>A (p.Phe230Ile)
c.622T>A (p.Phe208Ile)
c.787T>A (p.Phe263Ile)
c.841T>A (p.Phe281Ile)
2g.98395846T>CCA347831902CNGA3c.676T>C (p.Phe226Leu)
c.688T>C (p.Phe230Leu)
c.622T>C (p.Phe208Leu)
c.787T>C (p.Phe263Leu)
c.841T>C (p.Phe281Leu)
2g.98395846T>GCA347831901CNGA3c.676T>G (p.Phe226Val)
c.688T>G (p.Phe230Val)
c.622T>G (p.Phe208Val)
c.787T>G (p.Phe263Val)
c.841T>G (p.Phe281Val)
2g.98395847T>ACA347831903CNGA3c.677T>A (p.Phe226Tyr)
c.689T>A (p.Phe230Tyr)
c.623T>A (p.Phe208Tyr)
c.788T>A (p.Phe263Tyr)
c.842T>A (p.Phe281Tyr)
2g.98395847T>CCA347831904CNGA3c.677T>C (p.Phe226Ser)
c.689T>C (p.Phe230Ser)
c.623T>C (p.Phe208Ser)
c.788T>C (p.Phe263Ser)
c.842T>C (p.Phe281Ser)
2g.98395847T>GCA347831905CNGA3c.677T>G (p.Phe226Cys)
c.689T>G (p.Phe230Cys)
c.623T>G (p.Phe208Cys)
c.788T>G (p.Phe263Cys)
c.842T>G (p.Phe281Cys)
2g.98395848T>ACA347831906CNGA3c.678T>A (p.Phe226Leu)
c.690T>A (p.Phe230Leu)
c.624T>A (p.Phe208Leu)
c.789T>A (p.Phe263Leu)
c.843T>A (p.Phe281Leu)
2g.98395848T>CCA427567956CNGA3c.678T>C (p.Phe226=)
c.690T>C (p.Phe230=)
c.624T>C (p.Phe208=)
c.789T>C (p.Phe263=)
c.843T>C (p.Phe281=)
 gnomAD v4
2g.98395848T>GCA347831907CNGA3c.678T>G (p.Phe226Leu)
c.690T>G (p.Phe230Leu)
c.624T>G (p.Phe208Leu)
c.789T>G (p.Phe263Leu)
c.843T>G (p.Phe281Leu)
2g.98395849C>ACA347831908CNGA3c.679C>A (p.Leu227Ile)
c.691C>A (p.Leu231Ile)
c.625C>A (p.Leu209Ile)
c.790C>A (p.Leu264Ile)
c.844C>A (p.Leu282Ile)
2g.98395849C>GCA347831909CNGA3c.679C>G (p.Leu227Val)
c.691C>G (p.Leu231Val)
c.625C>G (p.Leu209Val)
c.790C>G (p.Leu264Val)
c.844C>G (p.Leu282Val)
2g.98395849C>TCA347831910CNGA3c.679C>T (p.Leu227Phe)
c.691C>T (p.Leu231Phe)
c.625C>T (p.Leu209Phe)
c.790C>T (p.Leu264Phe)
c.844C>T (p.Leu282Phe)
2g.98395850T>ACA347831911CNGA3c.680T>A (p.Leu227His)
c.692T>A (p.Leu231His)
c.626T>A (p.Leu209His)
c.791T>A (p.Leu264His)
c.845T>A (p.Leu282His)
2g.98395850T>CCA347831912CNGA3c.680T>C (p.Leu227Pro)
c.692T>C (p.Leu231Pro)
c.626T>C (p.Leu209Pro)
c.791T>C (p.Leu264Pro)
c.845T>C (p.Leu282Pro)
2g.98395850T>GCA347831913CNGA3c.680T>G (p.Leu227Arg)
c.692T>G (p.Leu231Arg)
c.626T>G (p.Leu209Arg)
c.791T>G (p.Leu264Arg)
c.845T>G (p.Leu282Arg)
 gnomAD v4
2g.98395851C>ACA427567965CNGA3c.681C>A (p.Leu227=)
c.693C>A (p.Leu231=)
c.627C>A (p.Leu209=)
c.792C>A (p.Leu264=)
c.846C>A (p.Leu282=)
 gnomAD v4
2g.98395851C=CA1273419658CNGA3c.681C= (p.Leu227=)
c.693C= (p.Leu231=)
c.627C= (p.Leu209=)
c.792C= (p.Leu264=)
c.846C= (p.Leu282=)
2g.98395851C>GCA427567967CNGA3c.681C>G (p.Leu227=)
c.693C>G (p.Leu231=)
c.627C>G (p.Leu209=)
c.792C>G (p.Leu264=)
c.846C>G (p.Leu282=)
2g.98395851C>TCA427567969CNGA3c.681C>T (p.Leu227=)
c.693C>T (p.Leu231=)
c.627C>T (p.Leu209=)
c.792C>T (p.Leu264=)
c.846C>T (p.Leu282=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395852G>ACA1793876CNGA3c.682G>A (p.Glu228Lys)
c.694G>A (p.Glu232Lys)
c.628G>A (p.Glu210Lys)
c.793G>A (p.Glu265Lys)
c.847G>A (p.Glu283Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395852G>CCA347831914CNGA3c.682G>C (p.Glu228Gln)
c.694G>C (p.Glu232Gln)
c.628G>C (p.Glu210Gln)
c.793G>C (p.Glu265Gln)
c.847G>C (p.Glu283Gln)
2g.98395852G=CA1273419659CNGA3c.682G= (p.Glu228=)
c.694G= (p.Glu232=)
c.628G= (p.Glu210=)
c.793G= (p.Glu265=)
c.847G= (p.Glu283=)
2g.98395852G>TCA347831915CNGA3c.682G>T (p.Glu228Ter)
c.694G>T (p.Glu232Ter)
c.628G>T (p.Glu210Ter)
c.793G>T (p.Glu265Ter)
c.847G>T (p.Glu283Ter)
 gnomAD v4 COSMIC
2g.98395853A>CCA347831916CNGA3c.683A>C (p.Glu228Ala)
c.695A>C (p.Glu232Ala)
c.629A>C (p.Glu210Ala)
c.794A>C (p.Glu265Ala)
c.848A>C (p.Glu283Ala)
2g.98395853A>GCA347831917CNGA3c.683A>G (p.Glu228Gly)
c.695A>G (p.Glu232Gly)
c.629A>G (p.Glu210Gly)
c.794A>G (p.Glu265Gly)
c.848A>G (p.Glu283Gly)
2g.98395853A>TCA347831918CNGA3c.683A>T (p.Glu228Val)
c.695A>T (p.Glu232Val)
c.629A>T (p.Glu210Val)
c.794A>T (p.Glu265Val)
c.848A>T (p.Glu283Val)
2g.98395854G>ACA427567981CNGA3c.684G>A (p.Glu228=)
c.696G>A (p.Glu232=)
c.630G>A (p.Glu210=)
c.795G>A (p.Glu265=)
c.849G>A (p.Glu283=)
 dbSNP gnomAD v2 gnomAD v4
2g.98395854G>CCA347831919CNGA3c.684G>C (p.Glu228Asp)
c.696G>C (p.Glu232Asp)
c.630G>C (p.Glu210Asp)
c.795G>C (p.Glu265Asp)
c.849G>C (p.Glu283Asp)
2g.98395854G=CA1273419660CNGA3c.684G= (p.Glu228=)
c.696G= (p.Glu232=)
c.630G= (p.Glu210=)
c.795G= (p.Glu265=)
c.849G= (p.Glu283=)
2g.98395854G>TCA347831920CNGA3c.684G>T (p.Glu228Asp)
c.696G>T (p.Glu232Asp)
c.630G>T (p.Glu210Asp)
c.795G>T (p.Glu265Asp)
c.849G>T (p.Glu283Asp)
2g.98395855C>ACA347831921CNGA3c.685C>A (p.Gln229Lys)
c.697C>A (p.Gln233Lys)
c.631C>A (p.Gln211Lys)
c.796C>A (p.Gln266Lys)
c.850C>A (p.Gln284Lys)
2g.98395855C>GCA347831922CNGA3c.685C>G (p.Gln229Glu)
c.697C>G (p.Gln233Glu)
c.631C>G (p.Gln211Glu)
c.796C>G (p.Gln266Glu)
c.850C>G (p.Gln284Glu)
2g.98395855C>TCA347831923CNGA3c.685C>T (p.Gln229Ter)
c.697C>T (p.Gln233Ter)
c.631C>T (p.Gln211Ter)
c.796C>T (p.Gln266Ter)
c.850C>T (p.Gln284Ter)
2g.98395856A=CA1273419661CNGA3c.686A= (p.Gln229=)
c.698A= (p.Gln233=)
c.632A= (p.Gln211=)
c.797A= (p.Gln266=)
c.851A= (p.Gln284=)
2g.98395856A>CCA347831924CNGA3c.686A>C (p.Gln229Pro)
c.698A>C (p.Gln233Pro)
c.632A>C (p.Gln211Pro)
c.797A>C (p.Gln266Pro)
c.851A>C (p.Gln284Pro)
2g.98395856A>GCA1793877CNGA3c.686A>G (p.Gln229Arg)
c.698A>G (p.Gln233Arg)
c.632A>G (p.Gln211Arg)
c.797A>G (p.Gln266Arg)
c.851A>G (p.Gln284Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395856A>TCA347831925CNGA3c.686A>T (p.Gln229Leu)
c.698A>T (p.Gln233Leu)
c.632A>T (p.Gln211Leu)
c.797A>T (p.Gln266Leu)
c.851A>T (p.Gln284Leu)
2g.98395857A>CCA347831926CNGA3c.687A>C (p.Gln229His)
c.699A>C (p.Gln233His)
c.633A>C (p.Gln211His)
c.798A>C (p.Gln266His)
c.852A>C (p.Gln284His)
2g.98395857A>GCA427567997CNGA3c.687A>G (p.Gln229=)
c.699A>G (p.Gln233=)
c.633A>G (p.Gln211=)
c.798A>G (p.Gln266=)
c.852A>G (p.Gln284=)
 gnomAD v4
2g.98395857A>TCA347831927CNGA3c.687A>T (p.Gln229His)
c.699A>T (p.Gln233His)
c.633A>T (p.Gln211His)
c.798A>T (p.Gln266His)
c.852A>T (p.Gln284His)
2g.98395858G>ACA347831928CNGA3c.688G>A (p.Gly230Ser)
c.700G>A (p.Gly234Ser)
c.634G>A (p.Gly212Ser)
c.799G>A (p.Gly267Ser)
c.853G>A (p.Gly285Ser)
2g.98395858G>CCA347831929CNGA3c.688G>C (p.Gly230Arg)
c.700G>C (p.Gly234Arg)
c.634G>C (p.Gly212Arg)
c.799G>C (p.Gly267Arg)
c.853G>C (p.Gly285Arg)
2g.98395858G>TCA347831930CNGA3c.688G>T (p.Gly230Cys)
c.700G>T (p.Gly234Cys)
c.634G>T (p.Gly212Cys)
c.799G>T (p.Gly267Cys)
c.853G>T (p.Gly285Cys)
2g.98395859G>ACA1793878CNGA3c.689G>A (p.Gly230Asp)
c.701G>A (p.Gly234Asp)
c.635G>A (p.Gly212Asp)
c.800G>A (p.Gly267Asp)
c.854G>A (p.Gly285Asp)
 dbSNP ExAC gnomAD v2
2g.98395859G>CCA347831932CNGA3c.689G>C (p.Gly230Ala)
c.701G>C (p.Gly234Ala)
c.635G>C (p.Gly212Ala)
c.800G>C (p.Gly267Ala)
c.854G>C (p.Gly285Ala)
2g.98395859G=CA1273419662CNGA3c.689G= (p.Gly230=)
c.701G= (p.Gly234=)
c.635G= (p.Gly212=)
c.800G= (p.Gly267=)
c.854G= (p.Gly285=)
2g.98395859G>TCA347831931CNGA3c.689G>T (p.Gly230Val)
c.701G>T (p.Gly234Val)
c.635G>T (p.Gly212Val)
c.800G>T (p.Gly267Val)
c.854G>T (p.Gly285Val)
2g.98395860C>ACA427568007CNGA3c.690C>A (p.Gly230=)
c.702C>A (p.Gly234=)
c.636C>A (p.Gly212=)
c.801C>A (p.Gly267=)
c.855C>A (p.Gly285=)
2g.98395860C>GCA427568009CNGA3c.690C>G (p.Gly230=)
c.702C>G (p.Gly234=)
c.636C>G (p.Gly212=)
c.801C>G (p.Gly267=)
c.855C>G (p.Gly285=)
2g.98395860C>TCA427568012CNGA3c.690C>T (p.Gly230=)
c.702C>T (p.Gly234=)
c.636C>T (p.Gly212=)
c.801C>T (p.Gly267=)
c.855C>T (p.Gly285=)
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)

Number of alleles fetched