Unique variants in gene AARS2

Information The variants shown are described using the NM_020745.2 transcript reference sequence.

235 entries on 3 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-1G>C r.(=) p.(=) g.44281061C>G Copied from the Exome Variant Server AARS2_000234 9/11078 0/7420 9/3658
1 c.8C>T r.(?) p.(Ala3Val) g.44281053G>A Copied from the Exome Variant Server AARS2_000233 1/10886 1/7308 0/3578
1 c.29G>A r.(?) p.(Arg10Gln) g.44281032C>T Copied from the Exome Variant Server AARS2_000232 1/10206 0/6908 1/3298
1 c.31_39del r.(?) p.(Leu12_Arg14del) g.44281022_44281030del Copied from the Exome Variant Server AARS2_000229 17/8988 3/6110 14/2878
1 c.162T>C r.(=) p.(=) g.44280899A>G Copied from the Exome Variant Server AARS2_000227 2/12928 2/8554 0/4374
1 c.176_193del r.(?) p.(Val59_Arg65delinsGly) g.44280868_44280885del Copied from the Exome Variant Server AARS2_000225 6/12462 4/8220 2/4242
1 c.230C>T r.(?) p.(Ala77Val) g.44280831G>A Copied from the Exome Variant Server AARS2_000223 1/13000 1/8596 0/4404
1 c.243+6G>A r.(=) p.(=) g.44280812C>T Copied from the Exome Variant Server AARS2_000221 6468/13004 4850/8598 1618/4406
1 c.243+19T>C r.(=) p.(=) g.44280799A>G Copied from the Exome Variant Server AARS2_000219 9/13002 0/8596 9/4406
1 c.244-45G>T r.(=) p.(=) g.44280045C>A Copied from the Exome Variant Server AARS2_000217 2/13006 2/8600 0/4406
1 c.244-24C>G r.(=) p.(=) g.44280024G>C Copied from the Exome Variant Server AARS2_000215 1/13006 1/8600 0/4406
1 c.244-19C>G r.(=) p.(=) g.44280019G>C Copied from the Exome Variant Server AARS2_000231 1/13006 1/8600 0/4406
1 c.244-7C>T r.(=) p.(=) g.44280007G>A Copied from the Exome Variant Server AARS2_000230 2/13006 2/8600 0/4406
1 c.244-3C>T r.spl? p.? g.44280003G>A Copied from the Exome Variant Server AARS2_000228 1/13006 0/8600 1/4406
1 c.253A>G r.(?) p.(Ile85Val) g.44279991T>C Copied from the Exome Variant Server AARS2_000226 1/13006 0/8600 1/4406
1 c.349G>A r.(?) p.(Asp117Asn) g.44279895C>T Copied from the Exome Variant Server AARS2_000224 1/13006 1/8600 0/4406
1 c.384T>C r.(=) p.(=) g.44279860A>G Copied from the Exome Variant Server AARS2_000222 2/13006 0/8600 2/4406
1 c.420G>A r.(=) p.(=) g.44279824C>T Copied from the Exome Variant Server AARS2_000220 221/13006 1/8600 220/4406
1 c.422G>A r.(?) p.(Gly141Asp) g.44279822C>T Copied from the Exome Variant Server AARS2_000218 1/13006 0/8600 1/4406
1 c.435+9C>T r.(=) p.(=) g.44279800G>A Copied from the Exome Variant Server AARS2_000216 5/13006 5/8600 0/4406
1 c.435+40C>T r.(=) p.(=) g.44279769G>A Copied from the Exome Variant Server AARS2_000214 1/13006 1/8600 0/4406
1 c.436-37G>A r.(=) p.(=) g.44279309C>T Copied from the Exome Variant Server AARS2_000213 3790/13006 2071/8600 1719/4406
1 c.436-31_436-30insT r.(=) p.(=) g.44279302_44279303insA Copied from the Exome Variant Server AARS2_000212 1858/12518 1448/8254 410/4264
1 c.436-30dup r.(=) p.(=) g.44279302dup Copied from the Exome Variant Server AARS2_000211 59/12518 19/8254 40/4264
1 c.436-25C>T r.(=) p.(=) g.44279297G>A Copied from the Exome Variant Server AARS2_000210 10/13006 10/8600 0/4406
1 c.436-25_436-24insC r.(=) p.(=) g.44279296_44279297insG Copied from the Exome Variant Server AARS2_000209 1857/12518 1416/8254 441/4264
1 c.436-15T>G r.(=) p.(=) g.44279287A>C Copied from the Exome Variant Server AARS2_000208 1/13006 0/8600 1/4406
1 c.487C>T r.(?) p.(Pro163Ser) g.44279221G>A Copied from the Exome Variant Server AARS2_000207 1/13006 1/8600 0/4406
1 c.496A>T r.(?) p.(Arg166Trp) g.44279212T>A Copied from the Exome Variant Server AARS2_000206 1/13006 1/8600 0/4406
1 c.523G>A r.(?) p.(Asp175Asn) g.44279185C>T Copied from the Exome Variant Server AARS2_000205 1/13006 1/8600 0/4406
1 c.581+16T>C r.(=) p.(=) g.44279111A>G Copied from the Exome Variant Server AARS2_000204 3811/13006 2079/8600 1732/4406
1 c.581+21T>C r.(=) p.(=) g.44279106A>G Copied from the Exome Variant Server AARS2_000203 1/13006 1/8600 0/4406
1 c.581+22G>A r.(=) p.(=) g.44279105C>T Copied from the Exome Variant Server AARS2_000202 1/13006 1/8600 0/4406
1 c.581+51A>G r.(=) p.(=) g.44279076T>C Copied from the Exome Variant Server AARS2_000201 1/13006 1/8600 0/4406
1 c.582-36G>A r.(=) p.(=) g.44278934C>T Copied from the Exome Variant Server AARS2_000200 1/13006 0/8600 1/4406
1 c.582-34C>T r.(=) p.(=) g.44278932G>A Copied from the Exome Variant Server AARS2_000199 3/13006 0/8600 3/4406
1 c.582-32G>A r.(=) p.(=) g.44278930C>T Copied from the Exome Variant Server AARS2_000198 1/13006 1/8600 0/4406
1 c.595C>T r.(?) p.(Arg199Cys) g.44278885G>A Copied from the Exome Variant Server AARS2_000197 1/13006 1/8600 0/4406
1 c.673C>T r.(?) p.(His225Tyr) g.44278807G>A Copied from the Exome Variant Server AARS2_000196 2/13006 2/8600 0/4406
1 c.678C>T r.(=) p.(=) g.44278802G>A Copied from the Exome Variant Server AARS2_000195 5/13006 2/8600 3/4406
1 c.749+14G>A r.(=) p.(=) g.44278717C>T Copied from the Exome Variant Server AARS2_000194 117/13006 0/8600 117/4406
1 c.750-27C>T r.(=) p.(=) g.44278207G>A Copied from the Exome Variant Server AARS2_000193 3/13006 0/8600 3/4406
1 c.750-5G>A r.spl? p.? g.44278185C>T Copied from the Exome Variant Server AARS2_000192 97/13006 0/8600 97/4406
1 c.785G>A r.(?) p.(Arg262Gln) g.44278145C>T Copied from the Exome Variant Server AARS2_000191 1/13006 0/8600 1/4406
1 c.834A>C r.(?) p.(Gln278His) g.44278096T>G Copied from the Exome Variant Server AARS2_000190 1/13006 0/8600 1/4406
1 c.861C>A r.(?) p.(Asp287Glu) g.44278069G>T Copied from the Exome Variant Server AARS2_000189 168/13006 0/8600 168/4406
1 c.882C>T r.(=) p.(=) g.44278048G>A Copied from the Exome Variant Server AARS2_000188 1/13006 0/8600 1/4406
1 c.888A>G r.(?) p.(Ile296Met) g.44278042T>C Copied from the Exome Variant Server AARS2_000187 1/13006 1/8600 0/4406
1 c.895-16C>T r.(=) p.(=) g.44275147G>A Copied from the Exome Variant Server AARS2_000186 4/12994 4/8598 0/4396
1 c.897C>T r.(=) p.(=) g.44275129G>A Copied from the Exome Variant Server AARS2_000185 1/13004 1/8600 0/4404
1 c.903G>T r.(?) p.(Arg301Ser) g.44275123C>A Copied from the Exome Variant Server AARS2_000184 1/13002 1/8598 0/4404
1 c.923G>A r.(?) p.(Arg308Gln) g.44275103C>T Copied from the Exome Variant Server AARS2_000183 1/13006 1/8600 0/4406
1 c.956C>T r.(?) p.(Thr319Ile) g.44275070G>A Copied from the Exome Variant Server AARS2_000182 1/13006 0/8600 1/4406
1 c.985C>T r.(?) p.(Arg329Cys) g.44275041G>A Copied from the Exome Variant Server AARS2_000181 1/13006 0/8600 1/4406
1 c.1015A>G N/A N/A g.44275011T>C Copied from the Exome Variant Server AARS2_000179 11531/13006 8307/8600 3224/4406
1 c.1040+28C>T r.(=) p.(=) g.44274958G>A Copied from the Exome Variant Server AARS2_000235 185/13006 1/8600 184/4406
1 c.1040+41G>C r.(=) p.(=) g.44274945C>G Copied from the Exome Variant Server AARS2_000176 13/13006 10/8600 3/4406
1 c.1041-43A>G r.(=) p.(=) g.44274811T>C Copied from the Exome Variant Server AARS2_000173 1/13004 0/8598 1/4406
1 c.1041-37C>T r.(=) p.(=) g.44274805G>A Copied from the Exome Variant Server AARS2_000171 3/13004 0/8598 3/4406
1 c.1041-29A>G r.(=) p.(=) g.44274797T>C Copied from the Exome Variant Server AARS2_000169 11541/13006 8309/8600 3232/4406
1 c.1041-24T>C r.(=) p.(=) g.44274792A>G Copied from the Exome Variant Server AARS2_000167 1/13006 0/8600 1/4406
1 c.1041-23G>C r.(=) p.(=) g.44274791C>G Copied from the Exome Variant Server AARS2_000180 221/13006 1/8600 220/4406
1 c.1067G>A r.(?) p.(Arg356Gln) g.44274742C>T Copied from the Exome Variant Server AARS2_000178 2/13006 0/8600 2/4406
1 c.1076G>A r.(?) p.(Arg359His) g.44274733C>T Copied from the Exome Variant Server AARS2_000177 1/13006 1/8600 0/4406
1 c.1084A>T r.(?) p.(Met362Leu) g.44274725T>A Copied from the Exome Variant Server AARS2_000175 38/13006 0/8600 38/4406
1 c.1128A>T r.(=) p.(=) g.44274681T>A Copied from the Exome Variant Server AARS2_000174 1/13006 1/8600 0/4406
1 c.1149+31C>A r.(=) p.(=) g.44274629G>T Copied from the Exome Variant Server AARS2_000172 1/13006 1/8600 0/4406
1 c.1149+36C>A r.(=) p.(=) g.44274624G>T Copied from the Exome Variant Server AARS2_000170 1/13006 0/8600 1/4406
1 c.1150-4C>G r.spl? p.? g.44274273G>C Copied from the Exome Variant Server AARS2_000168 6/13006 0/8600 6/4406
1 c.1156G>A r.(?) p.(Ala386Thr) g.44274263C>T Copied from the Exome Variant Server AARS2_000166 2/13006 0/8600 2/4406
1 c.1157C>T r.(?) p.(Ala386Val) g.44274262G>A Copied from the Exome Variant Server AARS2_000165 3/13006 0/8600 3/4406
1 c.1162C>T r.(?) p.(Pro388Ser) g.44274257G>A Copied from the Exome Variant Server AARS2_000164 31/13006 2/8600 29/4406
1 c.1173A>G r.(=) p.(=) g.44274246T>C Copied from the Exome Variant Server AARS2_000163 15/13006 0/8600 15/4406
1 c.1188+36G>A r.(=) p.(=) g.44274195C>T Copied from the Exome Variant Server AARS2_000162 1/13006 1/8600 0/4406
1 c.1188+47G>C r.(=) p.(=) g.44274184C>G Copied from the Exome Variant Server AARS2_000161 1/13006 1/8600 0/4406
1 c.1189-16_1189-14del r.(=) p.(=) g.44274142_44274144del Copied from the Exome Variant Server AARS2_000160 24/12516 15/8254 9/4262
1 c.1192G>A r.(?) p.(Ala398Thr) g.44274125C>T Copied from the Exome Variant Server AARS2_000159 1/13006 1/8600 0/4406
1 c.1196A>G r.(?) p.(Asn399Ser) g.44274121T>C Copied from the Exome Variant Server AARS2_000158 147/13006 0/8600 147/4406
1 c.1241G>A r.(?) p.(Arg414Gln) g.44274076C>T Copied from the Exome Variant Server AARS2_000157 1/13006 1/8600 0/4406
1 c.1244G>A r.(?) p.(Gly415Asp) g.44274073C>T Copied from the Exome Variant Server AARS2_000156 1/13006 1/8600 0/4406
1 c.1249C>A r.(=) p.(=) g.44274068G>T Copied from the Exome Variant Server AARS2_000155 6/13006 0/8600 6/4406
1 c.1268T>C r.(?) p.(Leu423Pro) g.44274049A>G Copied from the Exome Variant Server AARS2_000154 1/13006 0/8600 1/4406
1 c.1300+9G>T r.(=) p.(=) g.44274008C>A Copied from the Exome Variant Server AARS2_000153 1/13006 0/8600 1/4406
1 c.1300+36G>A r.(=) p.(=) g.44273981C>T Copied from the Exome Variant Server AARS2_000152 8/13006 1/8600 7/4406
1 c.1301-23T>G r.(=) p.(=) g.44273546A>C Copied from the Exome Variant Server AARS2_000151 6292/13006 4864/8600 1428/4406
1 c.1324C>T r.(=) p.(=) g.44273500G>A Copied from the Exome Variant Server AARS2_000150 1/13006 0/8600 1/4406
1 c.1350G>A r.(=) p.(=) g.44273474C>T Copied from the Exome Variant Server AARS2_000149 2/13006 0/8600 2/4406
1 c.1366A>G r.(?) p.(Met456Val) g.44273458T>C Copied from the Exome Variant Server AARS2_000148 1/13006 1/8600 0/4406
1 c.1398C>T r.(=) p.(=) g.44273426G>A Copied from the Exome Variant Server AARS2_000147 36/13006 3/8600 33/4406
1 c.1399G>A r.(?) p.(Ala467Thr) g.44273425C>T Copied from the Exome Variant Server AARS2_000146 1/13006 0/8600 1/4406
1 c.1412G>A r.(?) p.(Arg471Gln) g.44273412C>T Copied from the Exome Variant Server AARS2_000145 123/13006 0/8600 123/4406
1 c.1434+22G>C r.(=) p.(=) g.44273368C>G Copied from the Exome Variant Server AARS2_000144 1/13006 1/8600 0/4406
1 c.1434+29del r.(=) p.(=) g.44273361del Copied from the Exome Variant Server AARS2_000143 37/12518 0/8254 37/4264
1 c.1435-46C>A r.(=) p.(=) g.44272981G>T Copied from the Exome Variant Server AARS2_000142 1/13006 1/8600 0/4406
1 c.1435-25T>C r.(=) p.(=) g.44272960A>G Copied from the Exome Variant Server AARS2_000141 1/13006 1/8600 0/4406
1 c.1435-14T>C r.(=) p.(=) g.44272949A>G Copied from the Exome Variant Server AARS2_000140 2/13006 2/8600 0/4406
1 c.1435-11C>T r.(=) p.(=) g.44272946G>A Copied from the Exome Variant Server AARS2_000139 2/13006 0/8600 2/4406
1 c.1435-9A>G r.(=) p.(=) g.44272944T>C Copied from the Exome Variant Server AARS2_000138 1/13006 1/8600 0/4406
1 c.1438C>T r.(?) p.(Arg480Trp) g.44272932G>A Copied from the Exome Variant Server AARS2_000137 2/13006 2/8600 0/4406
1 c.1468C>T r.(?) p.(Gln490*) g.44272902G>A Copied from the Exome Variant Server AARS2_000136 1/13006 0/8600 1/4406
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