Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
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)

Number of alleles fetched