| X | g.121048351G>A | CA414410091 | GLUD2 | c.667G>A (p.Ala223Thr)
| |
| X | g.121048351G>C | CA414410092 | GLUD2 | c.667G>C (p.Ala223Pro)
| |
| X | g.121048351G>T | CA414410093 | GLUD2 | c.667G>T (p.Ala223Ser)
| |
| X | g.121048352C>A | CA414410094 | GLUD2 | c.668C>A (p.Ala223Asp)
| dbSNP |
| X | g.121048352C= | CA2455035119 | GLUD2 | c.668C= (p.Ala223=)
| |
| X | g.121048352C>G | CA414410095 | GLUD2 | c.668C>G (p.Ala223Gly)
| |
| X | g.121048352C>T | CA414410096 | GLUD2 | c.668C>T (p.Ala223Val)
| |
| X | g.121048353T>A | CA518461181 | GLUD2 | c.669T>A (p.Ala223=)
| |
| X | g.121048353T>C | CA518461180 | GLUD2 | c.669T>C (p.Ala223=)
| dbSNP gnomAD v4 |
| X | g.121048353T>G | CA518461178 | GLUD2 | c.669T>G (p.Ala223=)
| |
| X | g.121048353T= | CA2455035120 | GLUD2 | c.669T= (p.Ala223=)
| |
| X | g.121048354C>A | CA414410097 | GLUD2 | c.670C>A (p.Pro224Thr)
| |
| X | g.121048354C>G | CA414410098 | GLUD2 | c.670C>G (p.Pro224Ala)
| |
| X | g.121048354C>T | CA414410099 | GLUD2 | c.670C>T (p.Pro224Ser)
| |
| X | g.121048355C>A | CA414410102 | GLUD2 | c.671C>A (p.Pro224Gln)
| |
| X | g.121048355C>G | CA414410100 | GLUD2 | c.671C>G (p.Pro224Arg)
| |
| X | g.121048355C>T | CA414410101 | GLUD2 | c.671C>T (p.Pro224Leu)
| |
| X | g.121048356A= | CA2455035121 | GLUD2 | c.672A= (p.Pro224=)
| |
| X | g.121048356A>C | CA518461182 | GLUD2 | c.672A>C (p.Pro224=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048356A>G | CA518461184 | GLUD2 | c.672A>G (p.Pro224=)
| dbSNP gnomAD v4 |
| X | g.121048356A>T | CA518461183 | GLUD2 | c.672A>T (p.Pro224=)
| |
| X | g.121048357G>A | CA414410103 | GLUD2 | c.673G>A (p.Asp225Asn)
| |
| X | g.121048357G>C | CA414410104 | GLUD2 | c.673G>C (p.Asp225His)
| |
| X | g.121048357G= | CA2455035122 | GLUD2 | c.673G= (p.Asp225=)
| |
| X | g.121048357G>T | CA10506555 | GLUD2 | c.673G>T (p.Asp225Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048358A>C | CA414410105 | GLUD2 | c.674A>C (p.Asp225Ala)
| |
| X | g.121048358A>G | CA414410106 | GLUD2 | c.674A>G (p.Asp225Gly)
| |
| X | g.121048358A>T | CA414410107 | GLUD2 | c.674A>T (p.Asp225Val)
| |
| X | g.121048359C>A | CA414410108 | GLUD2 | c.675C>A (p.Asp225Glu)
| |
| X | g.121048359C>G | CA414410109 | GLUD2 | c.675C>G (p.Asp225Glu)
| |
| X | g.121048359C>T | CA518461185 | GLUD2 | c.675C>T (p.Asp225=)
| |
| X | g.121048360A= | CA2455035123 | GLUD2 | c.676A= (p.Met226=)
| |
| X | g.121048360A>C | CA414410110 | GLUD2 | c.676A>C (p.Met226Leu)
| |
| X | g.121048360A>G | CA10506556 | GLUD2 | c.676A>G (p.Met226Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048360A>T | CA414410111 | GLUD2 | c.676A>T (p.Met226Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048361T>A | CA414410114 | GLUD2 | c.677T>A (p.Met226Lys)
| |
| X | g.121048361T>C | CA414410113 | GLUD2 | c.677T>C (p.Met226Thr)
| ClinVar dbSNP |
| X | g.121048361T>G | CA414410112 | GLUD2 | c.677T>G (p.Met226Arg)
| |
| X | g.121048361T= | CA2455035124 | GLUD2 | c.677T= (p.Met226=)
| |
| X | g.121048362G>A | CA414410115 | GLUD2 | c.678G>A (p.Met226Ile)
| |
| X | g.121048362G>C | CA414410117 | GLUD2 | c.678G>C (p.Met226Ile)
| |
| X | g.121048362G>T | CA414410116 | GLUD2 | c.678G>T (p.Met226Ile)
| |
| X | g.121048363A= | CA2455035125 | GLUD2 | c.679A= (p.Asn227=)
| |
| X | g.121048363A>C | CA414410118 | GLUD2 | c.679A>C (p.Asn227His)
| |
| X | g.121048363A>G | CA414410120 | GLUD2 | c.679A>G (p.Asn227Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048363A>T | CA414410119 | GLUD2 | c.679A>T (p.Asn227Tyr)
| |
| X | g.121048364A= | CA2455035126 | GLUD2 | c.680A= (p.Asn227=)
| |
| X | g.121048364A>C | CA414410121 | GLUD2 | c.680A>C (p.Asn227Thr)
| |
| X | g.121048364A>G | CA335040645 | GLUD2 | c.680A>G (p.Asn227Ser)
| dbSNP gnomAD v4 COSMIC |
| X | g.121048364A>T | CA414410122 | GLUD2 | c.680A>T (p.Asn227Ile)
| |
| X | g.121048365C>A | CA414410123 | GLUD2 | c.681C>A (p.Asn227Lys)
| |
| X | g.121048365C>G | CA414410124 | GLUD2 | c.681C>G (p.Asn227Lys)
| |
| X | g.121048365C>T | CA518461191 | GLUD2 | c.681C>T (p.Asn227=)
| gnomAD v4 |
| X | g.121048366A>C | CA414410127 | GLUD2 | c.682A>C (p.Thr228Pro)
| |
| X | g.121048366A>G | CA414410126 | GLUD2 | c.682A>G (p.Thr228Ala)
| |
| X | g.121048366A>T | CA414410125 | GLUD2 | c.682A>T (p.Thr228Ser)
| |
| X | g.121048367C>A | CA414410128 | GLUD2 | c.683C>A (p.Thr228Lys)
| |
| X | g.121048367C>G | CA414410129 | GLUD2 | c.683C>G (p.Thr228Arg)
| |
| X | g.121048367C>T | CA414410130 | GLUD2 | c.683C>T (p.Thr228Ile)
| gnomAD v4 |
| X | g.121048368A>C | CA518461193 | GLUD2 | c.684A>C (p.Thr228=)
| |
| X | g.121048368A>G | CA518461194 | GLUD2 | c.684A>G (p.Thr228=)
| |
| X | g.121048368A>T | CA518461195 | GLUD2 | c.684A>T (p.Thr228=)
| |
| X | g.121048369G>A | CA414410131 | GLUD2 | c.685G>A (p.Gly229Ser)
| |
| X | g.121048369G>C | CA414410132 | GLUD2 | c.685G>C (p.Gly229Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048369G= | CA2455035127 | GLUD2 | c.685G= (p.Gly229=)
| |
| X | g.121048369G>T | CA414410133 | GLUD2 | c.685G>T (p.Gly229Cys)
| |
| X | g.121048370G>A | CA414410134 | GLUD2 | c.686G>A (p.Gly229Asp)
| |
| X | g.121048370G>C | CA414410136 | GLUD2 | c.686G>C (p.Gly229Ala)
| |
| X | g.121048370G>T | CA414410135 | GLUD2 | c.686G>T (p.Gly229Val)
| |
| X | g.121048371T>A | CA518461196 | GLUD2 | c.687T>A (p.Gly229=)
| |
| X | g.121048371T>C | CA518461200 | GLUD2 | c.687T>C (p.Gly229=)
| |
| X | g.121048371T>G | CA518461197 | GLUD2 | c.687T>G (p.Gly229=)
| |
| X | g.121048372G>A | CA414410137 | GLUD2 | c.688G>A (p.Glu230Lys)
| |
| X | g.121048372G>C | CA414410138 | GLUD2 | c.688G>C (p.Glu230Gln)
| |
| X | g.121048372G>T | CA414410139 | GLUD2 | c.688G>T (p.Glu230Ter)
| |
| X | g.121048373A= | CA2455035128 | GLUD2 | c.689A= (p.Glu230=)
| |
| X | g.121048373A>C | CA414410140 | GLUD2 | c.689A>C (p.Glu230Ala)
| |
| X | g.121048373A>G | CA414410141 | GLUD2 | c.689A>G (p.Glu230Gly)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.121048373A>T | CA414410142 | GLUD2 | c.689A>T (p.Glu230Val)
| |
| X | g.121048374G>A | CA518461202 | GLUD2 | c.690G>A (p.Glu230=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048374G>C | CA414410143 | GLUD2 | c.690G>C (p.Glu230Asp)
| |
| X | g.121048374G= | CA2455035129 | GLUD2 | c.690G= (p.Glu230=)
| |
| X | g.121048374G>T | CA414410144 | GLUD2 | c.690G>T (p.Glu230Asp)
| |
| X | g.121048375C>A | CA10506557 | GLUD2 | c.691C>A (p.Arg231=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.121048375C= | CA2455035130 | GLUD2 | c.691C= (p.Arg231=)
| |
| X | g.121048375C>G | CA414410145 | GLUD2 | c.691C>G (p.Arg231Gly)
| |
| X | g.121048375C>T | CA10506558 | GLUD2 | c.691C>T (p.Arg231Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048376G>A | CA414410146 | GLUD2 | c.692G>A (p.Arg231Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.121048376G>C | CA414410148 | GLUD2 | c.692G>C (p.Arg231Pro)
| |
| X | g.121048376G= | CA2455035131 | GLUD2 | c.692G= (p.Arg231=)
| |
| X | g.121048376G>T | CA414410147 | GLUD2 | c.692G>T (p.Arg231Leu)
| |
| X | g.121048377G>A | CA10506559 | GLUD2 | c.693G>A (p.Arg231=)
| dbSNP ExAC gnomAD v4 |
| X | g.121048377G>C | CA518461207 | GLUD2 | c.693G>C (p.Arg231=)
| |
| X | g.121048377G= | CA2455035132 | GLUD2 | c.693G= (p.Arg231=)
| |
| X | g.121048377G>T | CA518461208 | GLUD2 | c.693G>T (p.Arg231=)
| |
| X | g.121048378G>A | CA414410149 | GLUD2 | c.694G>A (p.Glu232Lys)
| |
| X | g.121048378G>C | CA414410150 | GLUD2 | c.694G>C (p.Glu232Gln)
| |
| X | g.121048378G>T | CA414410151 | GLUD2 | c.694G>T (p.Glu232Ter)
| |
| X | g.121048379A>C | CA414410152 | GLUD2 | c.695A>C (p.Glu232Ala)
| |
| X | g.121048379A>G | CA414410153 | GLUD2 | c.695A>G (p.Glu232Gly)
| |
| X | g.121048379A>T | CA414410154 | GLUD2 | c.695A>T (p.Glu232Val)
| |
| X | g.121048380G>A | CA335040646 | GLUD2 | c.696G>A (p.Glu232=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048380G>C | CA414410155 | GLUD2 | c.696G>C (p.Glu232Asp)
| |
| X | g.121048380G= | CA2455035133 | GLUD2 | c.696G= (p.Glu232=)
| |
| X | g.121048380G>T | CA414410156 | GLUD2 | c.696G>T (p.Glu232Asp)
| |
| X | g.121048381A>C | CA414410157 | GLUD2 | c.697A>C (p.Met233Leu)
| |
| X | g.121048381A>G | CA414410158 | GLUD2 | c.697A>G (p.Met233Val)
| |
| X | g.121048381A>T | CA414410159 | GLUD2 | c.697A>T (p.Met233Leu)
| |
| X | g.121048382T>A | CA414410160 | GLUD2 | c.698T>A (p.Met233Lys)
| |
| X | g.121048382T>C | CA414410162 | GLUD2 | c.698T>C (p.Met233Thr)
| |
| X | g.121048382T>G | CA414410161 | GLUD2 | c.698T>G (p.Met233Arg)
| |
| X | g.121048383G>A | CA414410163 | GLUD2 | c.699G>A (p.Met233Ile)
| |
| X | g.121048383G>C | CA414410164 | GLUD2 | c.699G>C (p.Met233Ile)
| |
| X | g.121048383G>T | CA414410165 | GLUD2 | c.699G>T (p.Met233Ile)
| |
| X | g.121048384T>A | CA414410166 | GLUD2 | c.700T>A (p.Ser234Thr)
| |
| X | g.121048384T>C | CA414410167 | GLUD2 | c.700T>C (p.Ser234Pro)
| |
| X | g.121048384T>G | CA414410168 | GLUD2 | c.700T>G (p.Ser234Ala)
| |
| X | g.121048385C>A | CA414410169 | GLUD2 | c.701C>A (p.Ser234Tyr)
| |
| X | g.121048385C>G | CA414410170 | GLUD2 | c.701C>G (p.Ser234Cys)
| |
| X | g.121048385C>T | CA414410171 | GLUD2 | c.701C>T (p.Ser234Phe)
| |
| X | g.121048386C>A | CA518461215 | GLUD2 | c.702C>A (p.Ser234=)
| |
| X | g.121048386C>G | CA518461216 | GLUD2 | c.702C>G (p.Ser234=)
| |
| X | g.121048386C>T | CA518461217 | GLUD2 | c.702C>T (p.Ser234=)
| |
| X | g.121048387T>A | CA414410174 | GLUD2 | c.703T>A (p.Trp235Arg)
| |
| X | g.121048387T>C | CA414410173 | GLUD2 | c.703T>C (p.Trp235Arg)
| |
| X | g.121048387T>G | CA414410172 | GLUD2 | c.703T>G (p.Trp235Gly)
| |
| X | g.121048388G>A | CA414410175 | GLUD2 | c.704G>A (p.Trp235Ter)
| |
| X | g.121048388G>C | CA414410177 | GLUD2 | c.704G>C (p.Trp235Ser)
| |
| X | g.121048388G>T | CA414410176 | GLUD2 | c.704G>T (p.Trp235Leu)
| |
| X | g.121048389G>A | CA414410178 | GLUD2 | c.705G>A (p.Trp235Ter)
| |
| X | g.121048389G>C | CA414410179 | GLUD2 | c.705G>C (p.Trp235Cys)
| |
| X | g.121048389G>T | CA414410180 | GLUD2 | c.705G>T (p.Trp235Cys)
| |
| X | g.121048390A= | CA2455035134 | GLUD2 | c.706A= (p.Ile236=)
| |
| X | g.121048390A>C | CA414410181 | GLUD2 | c.706A>C (p.Ile236Leu)
| dbSNP |
| X | g.121048390A>G | CA414410182 | GLUD2 | c.706A>G (p.Ile236Val)
| |
| X | g.121048390A>T | CA414410183 | GLUD2 | c.706A>T (p.Ile236Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048391T>A | CA414410184 | GLUD2 | c.707T>A (p.Ile236Asn)
| |
| X | g.121048391T>C | CA414410185 | GLUD2 | c.707T>C (p.Ile236Thr)
| |
| X | g.121048391T>G | CA414410186 | GLUD2 | c.707T>G (p.Ile236Ser)
| |
| X | g.121048392T>A | CA518461220 | GLUD2 | c.708T>A (p.Ile236=)
| |
| X | g.121048392T>C | CA335040647 | GLUD2 | c.708T>C (p.Ile236=)
| dbSNP gnomAD v4 COSMIC |
| X | g.121048392T>G | CA414410187 | GLUD2 | c.708T>G (p.Ile236Met)
| |
| X | g.121048392T= | CA2455035135 | GLUD2 | c.708T= (p.Ile236=)
| |
| X | g.121048393G>A | CA414410190 | GLUD2 | c.709G>A (p.Ala237Thr)
| gnomAD v4 |
| X | g.121048393G>C | CA414410189 | GLUD2 | c.709G>C (p.Ala237Pro)
| |
| X | g.121048393G>T | CA414410188 | GLUD2 | c.709G>T (p.Ala237Ser)
| |
| X | g.121048394C>A | CA414410191 | GLUD2 | c.710C>A (p.Ala237Asp)
| gnomAD v4 |
| X | g.121048394C>G | CA414410192 | GLUD2 | c.710C>G (p.Ala237Gly)
| |
| X | g.121048394C>T | CA414410193 | GLUD2 | c.710C>T (p.Ala237Val)
| |
| X | g.121048395T>A | CA518461223 | GLUD2 | c.711T>A (p.Ala237=)
| |
| X | g.121048395T>C | CA518461222 | GLUD2 | c.711T>C (p.Ala237=)
| COSMIC |
| X | g.121048395T>G | CA518461221 | GLUD2 | c.711T>G (p.Ala237=)
| |
| X | g.121048396G>A | CA10506560 | GLUD2 | c.712G>A (p.Asp238Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048396G>C | CA414410194 | GLUD2 | c.712G>C (p.Asp238His)
| gnomAD v4 |
| X | g.121048396G= | CA2455035136 | GLUD2 | c.712G= (p.Asp238=)
| |
| X | g.121048396G>T | CA414410195 | GLUD2 | c.712G>T (p.Asp238Tyr)
| |
| X | g.121048397A>C | CA414410196 | GLUD2 | c.713A>C (p.Asp238Ala)
| |
| X | g.121048397A>G | CA414410197 | GLUD2 | c.713A>G (p.Asp238Gly)
| |
| X | g.121048397A>T | CA414410198 | GLUD2 | c.713A>T (p.Asp238Val)
| |
| X | g.121048398T>A | CA414410199 | GLUD2 | c.714T>A (p.Asp238Glu)
| |
| X | g.121048398T>C | CA518461226 | GLUD2 | c.714T>C (p.Asp238=)
| |
| X | g.121048398T>G | CA414410200 | GLUD2 | c.714T>G (p.Asp238Glu)
| |
| X | g.121048399A= | CA2455035137 | GLUD2 | c.715A= (p.Thr239=)
| |
| X | g.121048399A>C | CA414410203 | GLUD2 | c.715A>C (p.Thr239Pro)
| |
| X | g.121048399A>G | CA414410202 | GLUD2 | c.715A>G (p.Thr239Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048399A>T | CA414410201 | GLUD2 | c.715A>T (p.Thr239Ser)
| |
| X | g.121048400C>A | CA414410204 | GLUD2 | c.716C>A (p.Thr239Asn)
| dbSNP COSMIC |
| X | g.121048400C= | CA2455035138 | GLUD2 | c.716C= (p.Thr239=)
| |
| X | g.121048400C>G | CA414410205 | GLUD2 | c.716C>G (p.Thr239Ser)
| |
| X | g.121048400C>T | CA414410206 | GLUD2 | c.716C>T (p.Thr239Ile)
| |
| X | g.121048401C>A | CA518461229 | GLUD2 | c.717C>A (p.Thr239=)
| COSMIC |
| X | g.121048401C>G | CA518461230 | GLUD2 | c.717C>G (p.Thr239=)
| |
| X | g.121048401C>T | CA518461231 | GLUD2 | c.717C>T (p.Thr239=)
| |
| X | g.121048402T>A | CA414410207 | GLUD2 | c.718T>A (p.Tyr240Asn)
| |
| X | g.121048402T>C | CA414410208 | GLUD2 | c.718T>C (p.Tyr240His)
| |
| X | g.121048402T>G | CA414410209 | GLUD2 | c.718T>G (p.Tyr240Asp)
| |
| X | g.121048403A>C | CA414410212 | GLUD2 | c.719A>C (p.Tyr240Ser)
| gnomAD v4 |
| X | g.121048403A>G | CA414410210 | GLUD2 | c.719A>G (p.Tyr240Cys)
| |
| X | g.121048403A>T | CA414410211 | GLUD2 | c.719A>T (p.Tyr240Phe)
| |
| X | g.121048404T>A | CA414410213 | GLUD2 | c.720T>A (p.Tyr240Ter)
| |
| X | g.121048404T>C | CA518461235 | GLUD2 | c.720T>C (p.Tyr240=)
| |
| X | g.121048404T>G | CA414410214 | GLUD2 | c.720T>G (p.Tyr240Ter)
| |
| X | g.121048405G>A | CA414410215 | GLUD2 | c.721G>A (p.Ala241Thr)
| COSMIC |
| X | g.121048405G>C | CA414410216 | GLUD2 | c.721G>C (p.Ala241Pro)
| |
| X | g.121048405G= | CA2455035139 | GLUD2 | c.721G= (p.Ala241=)
| |
| X | g.121048405G>T | CA414410217 | GLUD2 | c.721G>T (p.Ala241Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048406C>A | CA414410218 | GLUD2 | c.722C>A (p.Ala241Asp)
| dbSNP |
| X | g.121048406C= | CA2455035140 | GLUD2 | c.722C= (p.Ala241=)
| |
| X | g.121048406C>G | CA414410220 | GLUD2 | c.722C>G (p.Ala241Gly)
| |
| X | g.121048406C>T | CA414410219 | GLUD2 | c.722C>T (p.Ala241Val)
| |
| X | g.121048407C>A | CA518461239 | GLUD2 | c.723C>A (p.Ala241=)
| |
| X | g.121048407C>G | CA518461240 | GLUD2 | c.723C>G (p.Ala241=)
| |
| X | g.121048407C>T | CA518461241 | GLUD2 | c.723C>T (p.Ala241=)
| |
| X | g.121048408A>C | CA414410221 | GLUD2 | c.724A>C (p.Ser242Arg)
| |
| X | g.121048408A>G | CA414410222 | GLUD2 | c.724A>G (p.Ser242Gly)
| |
| X | g.121048408A>T | CA414410223 | GLUD2 | c.724A>T (p.Ser242Cys)
| |
| X | g.121048409G>A | CA414410224 | GLUD2 | c.725G>A (p.Ser242Asn)
| |
| X | g.121048409G>C | CA414410225 | GLUD2 | c.725G>C (p.Ser242Thr)
| |
| X | g.121048409G>T | CA414410226 | GLUD2 | c.725G>T (p.Ser242Ile)
| |
| X | g.121048410C>A | CA414410227 | GLUD2 | c.726C>A (p.Ser242Arg)
| |
| X | g.121048410C>G | CA414410228 | GLUD2 | c.726C>G (p.Ser242Arg)
| |
| X | g.121048410C>T | CA518461243 | GLUD2 | c.726C>T (p.Ser242=)
| |
| X | g.121048411A>C | CA414410229 | GLUD2 | c.727A>C (p.Thr243Pro)
| |
| X | g.121048411A>G | CA414410230 | GLUD2 | c.727A>G (p.Thr243Ala)
| |
| X | g.121048411A>T | CA414410231 | GLUD2 | c.727A>T (p.Thr243Ser)
| |
| X | g.121048412C>A | CA414410233 | GLUD2 | c.728C>A (p.Thr243Asn)
| |
| X | g.121048412C>G | CA414410234 | GLUD2 | c.728C>G (p.Thr243Ser)
| |
| X | g.121048412C>T | CA414410232 | GLUD2 | c.728C>T (p.Thr243Ile)
| |
| X | g.121048413C>A | CA518461248 | GLUD2 | c.729C>A (p.Thr243=)
| |
| X | g.121048413C>G | CA518461249 | GLUD2 | c.729C>G (p.Thr243=)
| |
| X | g.121048413C>T | CA518461247 | GLUD2 | c.729C>T (p.Thr243=)
| |
| X | g.121048414A= | CA2455035141 | GLUD2 | c.730A= (p.Ile244=)
| |
| X | g.121048414A>C | CA335040648 | GLUD2 | c.730A>C (p.Ile244Leu)
| dbSNP |
| X | g.121048414A>G | CA414410235 | GLUD2 | c.730A>G (p.Ile244Val)
| gnomAD v4 |
| X | g.121048414A>T | CA414410236 | GLUD2 | c.730A>T (p.Ile244Leu)
| |
| X | g.121048415T>A | CA414410237 | GLUD2 | c.731T>A (p.Ile244Lys)
| |
| X | g.121048415T>C | CA414410238 | GLUD2 | c.731T>C (p.Ile244Thr)
| gnomAD v4 |
| X | g.121048415T>G | CA414410239 | GLUD2 | c.731T>G (p.Ile244Arg)
| |
| X | g.121048416A>C | CA518461252 | GLUD2 | c.732A>C (p.Ile244=)
| |
| X | g.121048416A>G | CA414410240 | GLUD2 | c.732A>G (p.Ile244Met)
| gnomAD v4 |
| X | g.121048416A>T | CA518461253 | GLUD2 | c.732A>T (p.Ile244=)
| |
| X | g.121048417G>A | CA414410241 | GLUD2 | c.733G>A (p.Gly245Arg)
| |
| X | g.121048417G>C | CA414410242 | GLUD2 | c.733G>C (p.Gly245Arg)
| |
| X | g.121048417G>T | CA414410243 | GLUD2 | c.733G>T (p.Gly245Trp)
| |
| X | g.121048418G>A | CA414410244 | GLUD2 | c.734G>A (p.Gly245Glu)
| |
| X | g.121048418G>C | CA414410245 | GLUD2 | c.734G>C (p.Gly245Ala)
| |
| X | g.121048418G>T | CA414410246 | GLUD2 | c.734G>T (p.Gly245Val)
| |
| X | g.121048419G>A | CA518461257 | GLUD2 | c.735G>A (p.Gly245=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048419G>C | CA518461255 | GLUD2 | c.735G>C (p.Gly245=)
| |
| X | g.121048419G= | CA2455035142 | GLUD2 | c.735G= (p.Gly245=)
| |
| X | g.121048419G>T | CA518461256 | GLUD2 | c.735G>T (p.Gly245=)
| |
| X | g.121048420C>A | CA414410247 | GLUD2 | c.736C>A (p.His246Asn)
| gnomAD v4 |
| X | g.121048420C>G | CA414410248 | GLUD2 | c.736C>G (p.His246Asp)
| |
| X | g.121048420C>T | CA414410249 | GLUD2 | c.736C>T (p.His246Tyr)
| gnomAD v4 |
| X | g.121048421A>C | CA414410250 | GLUD2 | c.737A>C (p.His246Pro)
| gnomAD v4 |
| X | g.121048421A>G | CA414410252 | GLUD2 | c.737A>G (p.His246Arg)
| |
| X | g.121048421A>T | CA414410251 | GLUD2 | c.737A>T (p.His246Leu)
| |
| X | g.121048422C>A | CA414410253 | GLUD2 | c.738C>A (p.His246Gln)
| |
| X | g.121048422C>G | CA414410254 | GLUD2 | c.738C>G (p.His246Gln)
| |
| X | g.121048422C>T | CA518461261 | GLUD2 | c.738C>T (p.His246=)
| |
| X | g.121048423T>A | CA414410255 | GLUD2 | c.739T>A (p.Tyr247Asn)
| |
| X | g.121048423T>C | CA414410256 | GLUD2 | c.739T>C (p.Tyr247His)
| |
| X | g.121048423T>G | CA414410257 | GLUD2 | c.739T>G (p.Tyr247Asp)
| gnomAD v4 |
| X | g.121048424A>C | CA414410258 | GLUD2 | c.740A>C (p.Tyr247Ser)
| |
| X | g.121048424A>G | CA414410259 | GLUD2 | c.740A>G (p.Tyr247Cys)
| gnomAD v4 |
| X | g.121048424A>T | CA414410260 | GLUD2 | c.740A>T (p.Tyr247Phe)
| |
| X | g.121048425T>A | CA414410261 | GLUD2 | c.741T>A (p.Tyr247Ter)
| |
| X | g.121048425T>C | CA518461265 | GLUD2 | c.741T>C (p.Tyr247=)
| |
| X | g.121048425T>G | CA414410262 | GLUD2 | c.741T>G (p.Tyr247Ter)
| gnomAD v4 |
| X | g.121048426G>A | CA414410264 | GLUD2 | c.742G>A (p.Asp248Asn)
| |
| X | g.121048426G>C | CA414410265 | GLUD2 | c.742G>C (p.Asp248His)
| |
| X | g.121048426G>T | CA414410263 | GLUD2 | c.742G>T (p.Asp248Tyr)
| |
| X | g.121048427A= | CA2455035143 | GLUD2 | c.743A= (p.Asp248=)
| |
| X | g.121048427A>C | CA10506561 | GLUD2 | c.743A>C (p.Asp248Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048427A>G | CA414410266 | GLUD2 | c.743A>G (p.Asp248Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048427A>T | CA414410268 | GLUD2 | c.743A>T (p.Asp248Val)
| |
| X | g.121048428T>A | CA414410270 | GLUD2 | c.744T>A (p.Asp248Glu)
| dbSNP gnomAD v4 |
| X | g.121048428T>C | CA518461269 | GLUD2 | c.744T>C (p.Asp248=)
| dbSNP |
| X | g.121048428T>G | CA414410271 | GLUD2 | c.744T>G (p.Asp248Glu)
| |
| X | g.121048428T= | CA2455035144 | GLUD2 | c.744T= (p.Asp248=)
| |
| X | g.121048429A>C | CA414410272 | GLUD2 | c.745A>C (p.Ile249Leu)
| |
| X | g.121048429A>G | CA414410273 | GLUD2 | c.745A>G (p.Ile249Val)
| |
| X | g.121048429A>T | CA414410274 | GLUD2 | c.745A>T (p.Ile249Phe)
| |
| X | g.121048430T>A | CA414410275 | GLUD2 | c.746T>A (p.Ile249Asn)
| |
| X | g.121048430T>C | CA414410276 | GLUD2 | c.746T>C (p.Ile249Thr)
| |
| X | g.121048430T>G | CA414410277 | GLUD2 | c.746T>G (p.Ile249Ser)
| |
| X | g.121048431T>A | CA518461270 | GLUD2 | c.747T>A (p.Ile249=)
| |
| X | g.121048431T>C | CA518461271 | GLUD2 | c.747T>C (p.Ile249=)
| |
| X | g.121048431T>G | CA414410278 | GLUD2 | c.747T>G (p.Ile249Met)
| |
| X | g.121048432A= | CA2455035145 | GLUD2 | c.748A= (p.Asn250=)
| |
| X | g.121048432A>C | CA414410280 | GLUD2 | c.748A>C (p.Asn250His)
| |
| X | g.121048432A>G | CA10506562 | GLUD2 | c.748A>G (p.Asn250Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048432A>T | CA414410279 | GLUD2 | c.748A>T (p.Asn250Tyr)
| |
| X | g.121048433A>C | CA414410281 | GLUD2 | c.749A>C (p.Asn250Thr)
| |
| X | g.121048433A>G | CA414410282 | GLUD2 | c.749A>G (p.Asn250Ser)
| gnomAD v4 |
| X | g.121048433A>T | CA414410283 | GLUD2 | c.749A>T (p.Asn250Ile)
| |
| X | g.121048434T>A | CA414410284 | GLUD2 | c.750T>A (p.Asn250Lys)
| |
| X | g.121048434T>C | CA518461273 | GLUD2 | c.750T>C (p.Asn250=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.121048434T>G | CA414410285 | GLUD2 | c.750T>G (p.Asn250Lys)
| |
| X | g.121048434T= | CA2455035146 | GLUD2 | c.750T= (p.Asn250=)
| |
| X | g.121048435G>A | CA414410288 | GLUD2 | c.751G>A (p.Ala251Thr)
| gnomAD v4 |
| X | g.121048435G>C | CA414410287 | GLUD2 | c.751G>C (p.Ala251Pro)
| |
| X | g.121048435G>T | CA414410286 | GLUD2 | c.751G>T (p.Ala251Ser)
| |
| X | g.121048436C>A | CA414410289 | GLUD2 | c.752C>A (p.Ala251Glu)
| |
| X | g.121048436C>G | CA414410290 | GLUD2 | c.752C>G (p.Ala251Gly)
| |
| X | g.121048436C>T | CA414410291 | GLUD2 | c.752C>T (p.Ala251Val)
| |
| X | g.121048437A= | CA2455035147 | GLUD2 | c.753A= (p.Ala251=)
| |
| X | g.121048437A>C | CA518461276 | GLUD2 | c.753A>C (p.Ala251=)
| |
| X | g.121048437A>G | CA518461277 | GLUD2 | c.753A>G (p.Ala251=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048437A>T | CA518461279 | GLUD2 | c.753A>T (p.Ala251=)
| |
| X | g.121048438C>A | CA414410292 | GLUD2 | c.754C>A (p.His252Asn)
| COSMIC |
| X | g.121048438C>G | CA414410293 | GLUD2 | c.754C>G (p.His252Asp)
| |
| X | g.121048438C>T | CA414410294 | GLUD2 | c.754C>T (p.His252Tyr)
| |
| X | g.121048439A>C | CA414410297 | GLUD2 | c.755A>C (p.His252Pro)
| |
| X | g.121048439A>G | CA414410296 | GLUD2 | c.755A>G (p.His252Arg)
| |
| X | g.121048439A>T | CA414410295 | GLUD2 | c.755A>T (p.His252Leu)
| |
| X | g.121048440del | CA2694607219 | GLUD2 | c.756del (p.His252GlnfsTer?)
| gnomAD v4 |
| X | g.121048440C>A | CA414410298 | GLUD2 | c.756C>A (p.His252Gln)
| dbSNP |
| X | g.121048440C= | CA2455035148 | GLUD2 | c.756C= (p.His252=)
| |
| X | g.121048440C>G | CA414410299 | GLUD2 | c.756C>G (p.His252Gln)
| |
| X | g.121048440C>T | CA518461280 | GLUD2 | c.756C>T (p.His252=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.121048441G>A | CA414410300 | GLUD2 | c.757G>A (p.Ala253Thr)
| gnomAD v4 COSMIC |
| X | g.121048441G>C | CA414410301 | GLUD2 | c.757G>C (p.Ala253Pro)
| |
| X | g.121048441G= | CA2455035149 | GLUD2 | c.757G= (p.Ala253=)
| |
| X | g.121048441G>T | CA414410302 | GLUD2 | c.757G>T (p.Ala253Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048442C>A | CA414410303 | GLUD2 | c.758C>A (p.Ala253Asp)
| |
| X | g.121048442C>G | CA414410304 | GLUD2 | c.758C>G (p.Ala253Gly)
| |
| X | g.121048442C>T | CA414410305 | GLUD2 | c.758C>T (p.Ala253Val)
| |
| X | g.121048443C>A | CA518461284 | GLUD2 | c.759C>A (p.Ala253=)
| |
| X | g.121048443C>G | CA518461285 | GLUD2 | c.759C>G (p.Ala253=)
| |
| X | g.121048443C>T | CA518461286 | GLUD2 | c.759C>T (p.Ala253=)
| |
| X | g.121048444T>A | CA414410306 | GLUD2 | c.760T>A (p.Cys254Ser)
| |
| X | g.121048444T>C | CA414410307 | GLUD2 | c.760T>C (p.Cys254Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048444T>G | CA414410308 | GLUD2 | c.760T>G (p.Cys254Gly)
| |
| X | g.121048444T= | CA2455035150 | GLUD2 | c.760T= (p.Cys254=)
| |
| X | g.121048445G>A | CA414410309 | GLUD2 | c.761G>A (p.Cys254Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.121048445G>C | CA414410310 | GLUD2 | c.761G>C (p.Cys254Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.121048445G= | CA2455035151 | GLUD2 | c.761G= (p.Cys254=)
| |
| X | g.121048445G>T | CA414410311 | GLUD2 | c.761G>T (p.Cys254Phe)
| |
| X | g.121048446T>A | CA414410313 | GLUD2 | c.762T>A (p.Cys254Ter)
| |
| X | g.121048446T>C | CA518461290 | GLUD2 | c.762T>C (p.Cys254=)
| |
| X | g.121048446T>G | CA414410312 | GLUD2 | c.762T>G (p.Cys254Trp)
| |
| X | g.121048447G>A | CA414410314 | GLUD2 | c.763G>A (p.Val255Ile)
| |
| X | g.121048447G>C | CA414410315 | GLUD2 | c.763G>C (p.Val255Leu)
| |
| X | g.121048447G>T | CA414410316 | GLUD2 | c.763G>T (p.Val255Phe)
| |
| X | g.121048448T>A | CA414410317 | GLUD2 | c.764T>A (p.Val255Asp)
| |
| X | g.121048448T>C | CA414410318 | GLUD2 | c.764T>C (p.Val255Ala)
| |
| X | g.121048448T>G | CA414410319 | GLUD2 | c.764T>G (p.Val255Gly)
| gnomAD v4 |
| X | g.121048449T>A | CA518461291 | GLUD2 | c.765T>A (p.Val255=)
| |
| X | g.121048449T>C | CA518461292 | GLUD2 | c.765T>C (p.Val255=)
| |
| X | g.121048449T>G | CA518461293 | GLUD2 | c.765T>G (p.Val255=)
| |
| X | g.121048450A>C | CA414410320 | GLUD2 | c.766A>C (p.Thr256Pro)
| |
| X | g.121048450A>G | CA414410321 | GLUD2 | c.766A>G (p.Thr256Ala)
| |
| X | g.121048450A>T | CA414410322 | GLUD2 | c.766A>T (p.Thr256Ser)
| |
| X | g.121048451C>A | CA414410323 | GLUD2 | c.767C>A (p.Thr256Asn)
| |
| X | g.121048451C= | CA2455035152 | GLUD2 | c.767C= (p.Thr256=)
| |
| X | g.121048451C>G | CA414410324 | GLUD2 | c.767C>G (p.Thr256Ser)
| |
| X | g.121048451C>T | CA10506563 | GLUD2 | c.767C>T (p.Thr256Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
