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

Number of alleles fetched