All transcript variants in gene AARS

Information The variants shown are described using the NM_001605.2 transcript reference sequence.

212 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-21-11_-21-10insT r.(=) p.(=) g.70316697_70316698insA Copied from the Exome Variant Server AARS_000212 12/12518 5/8254 7/4264
?/? c.-21-10C>G r.(=) p.(=) g.70316697G>C Copied from the Exome Variant Server AARS_000211 2/12996 2/8600 0/4396
?/? c.46G>A r.(?) p.(Asp16Asn) g.70316621C>T Copied from the Exome Variant Server AARS_000210 1/12996 0/8600 1/4396
?/? c.64G>A r.(?) p.(Glu22Lys) g.70316603C>T Copied from the Exome Variant Server AARS_000209 74/12996 1/8600 73/4396
?/? c.96C>T r.(=) p.(=) g.70316571G>A Copied from the Exome Variant Server AARS_000208 1/12996 1/8600 0/4396
?/? c.144+21C>A r.(=) p.(=) g.70316502G>T Copied from the Exome Variant Server AARS_000207 50/12996 0/8600 50/4396
?/? c.144+38A>G r.(=) p.(=) g.70316485T>C Copied from the Exome Variant Server AARS_000206 4/12996 3/8600 1/4396
?/? c.144+42G>C r.(=) p.(=) g.70316481C>G Copied from the Exome Variant Server AARS_000205 1/12996 0/8600 1/4396
?/? c.145-17C>T r.(=) p.(=) g.70311074G>A Copied from the Exome Variant Server AARS_000204 1/12996 0/8600 1/4396
?/? c.333+17A>G r.(=) p.(=) g.70310852T>C Copied from the Exome Variant Server AARS_000203 2/12996 2/8600 0/4396
?/? c.333+22C>A r.(=) p.(=) g.70310847G>T Copied from the Exome Variant Server AARS_000202 1/12996 1/8600 0/4396
?/? c.333+25T>C r.(=) p.(=) g.70310844A>G Copied from the Exome Variant Server AARS_000201 4/12996 0/8600 4/4396
?/? c.334-36C>T r.(=) p.(=) g.70310570G>A Copied from the Exome Variant Server AARS_000200 1/12996 0/8600 1/4396
?/? c.385C>G r.(?) p.(Pro129Ala) g.70310483G>C Copied from the Exome Variant Server AARS_000199 1/12996 1/8600 0/4396
?/? c.430G>A r.(?) p.(Ala144Thr) g.70310438C>T Copied from the Exome Variant Server AARS_000198 4/12996 0/8600 4/4396
?/? c.448C>T r.(=) p.(=) g.70310420G>A Copied from the Exome Variant Server AARS_000197 1/12996 1/8600 0/4396
?/? c.479+52G>A r.(=) p.(=) g.70310337C>T Copied from the Exome Variant Server AARS_000196 4/5734 0/3982 4/1752
?/? c.480-17C>T r.(=) p.(=) g.70305892G>A Copied from the Exome Variant Server AARS_000195 1/12996 1/8600 0/4396
?/? c.480-12C>G r.(=) p.(=) g.70305887G>C Copied from the Exome Variant Server AARS_000194 1/12996 1/8600 0/4396
?/? c.480-9C>T r.(=) p.(=) g.70305884G>A Copied from the Exome Variant Server AARS_000193 1/12996 0/8600 1/4396
?/? c.497T>G r.(?) p.(Ile166Ser) g.70305858A>C Copied from the Exome Variant Server AARS_000192 2/12996 2/8600 0/4396
?/? c.525C>T r.(=) p.(=) g.70305830G>A Copied from the Exome Variant Server AARS_000191 1/12996 0/8600 1/4396
?/? c.577G>A r.(?) p.(Asp193Asn) g.70305778C>T Copied from the Exome Variant Server AARS_000190 1/12996 0/8600 1/4396
?/? c.597C>T r.(=) p.(=) g.70305758G>A Copied from the Exome Variant Server AARS_000189 1/12996 1/8600 0/4396
?/? c.600C>T r.(=) p.(=) g.70305755G>A Copied from the Exome Variant Server AARS_000188 11/12996 9/8600 2/4396
?/? c.618G>T r.(?) p.(Gln206His) g.70305737C>A Copied from the Exome Variant Server AARS_000187 1/12996 0/8600 1/4396
?/? c.621C>T r.(=) p.(=) g.70305734G>A Copied from the Exome Variant Server AARS_000186 3/12996 0/8600 3/4396
?/? c.671+3A>G r.spl? p.? g.70305681T>C Copied from the Exome Variant Server AARS_000185 1012/12996 7/8600 1005/4396
?/? c.671+12T>C r.(=) p.(=) g.70305672A>G Copied from the Exome Variant Server AARS_000184 1/12996 0/8600 1/4396
?/? c.700C>T r.(?) p.(Pro234Ser) g.70304215G>A Copied from the Exome Variant Server AARS_000183 16/12996 13/8600 3/4396
?/? c.713T>C r.(?) p.(Ile238Thr) g.70304202A>G Copied from the Exome Variant Server AARS_000182 1/12996 0/8600 1/4396
?/? c.741G>A r.(=) p.(=) g.70304174C>T Copied from the Exome Variant Server AARS_000181 4/12996 4/8600 0/4396
?/? c.751C>T r.(=) p.(=) g.70304164G>A Copied from the Exome Variant Server AARS_000180 1/12996 1/8600 0/4396
?/? c.763A>G r.(?) p.(Met255Val) g.70304152T>C Copied from the Exome Variant Server AARS_000179 1/12996 1/8600 0/4396
?/? c.792C>T r.(=) p.(=) g.70304123G>A Copied from the Exome Variant Server AARS_000178 1/12996 1/8600 0/4396
?/? c.816+34G>A r.(=) p.(=) g.70304065C>T Copied from the Exome Variant Server AARS_000177 1/12996 1/8600 0/4396
?/? c.817-50C>T r.(=) p.(=) g.70303716G>A Copied from the Exome Variant Server AARS_000176 2/12996 2/8600 0/4396
?/? c.824G>A r.(?) p.(Gly275Asp) g.70303659C>T Copied from the Exome Variant Server AARS_000175 1012/12996 7/8600 1005/4396
?/? c.829C>T r.(?) p.(Arg277*) g.70303654G>A Copied from the Exome Variant Server AARS_000174 1/12996 1/8600 0/4396
?/? c.834A>G r.(=) p.(=) g.70303649T>C Copied from the Exome Variant Server AARS_000173 1/12996 0/8600 1/4396
?/? c.903C>T r.(=) p.(=) g.70303580G>A Copied from the Exome Variant Server AARS_000172 6378/12996 4307/8600 2071/4396
?/? c.908G>A r.(?) p.(Arg303Gln) g.70303575C>T Copied from the Exome Variant Server AARS_000171 1/12996 0/8600 1/4396
?/? c.937G>A r.(?) p.(Gly313Ser) g.70303546C>T Copied from the Exome Variant Server AARS_000170 1/12996 0/8600 1/4396
?/? c.941G>A r.(?) p.(Arg314Gln) g.70303542C>T Copied from the Exome Variant Server AARS_000169 1/12996 1/8600 0/4396
?/? c.958C>T r.(?) p.(Arg320Cys) g.70303525G>A Copied from the Exome Variant Server AARS_000168 3/12996 3/8600 0/4396
?/? c.962+12G>C r.(=) p.(=) g.70303509C>G Copied from the Exome Variant Server AARS_000167 1/12996 0/8600 1/4396
?/? c.962+18T>C r.(=) p.(=) g.70303503A>G Copied from the Exome Variant Server AARS_000166 57/12996 2/8600 55/4396
?/? c.962+34C>T r.(=) p.(=) g.70303487G>A Copied from the Exome Variant Server AARS_000165 1/12996 1/8600 0/4396
?/? c.963-51A>C r.(=) p.(=) g.70302333T>G Copied from the Exome Variant Server AARS_000164 1347/12996 10/8600 1337/4396
?/? c.966T>C r.(=) p.(=) g.70302279A>G Copied from the Exome Variant Server AARS_000163 1/12996 0/8600 1/4396
?/? c.1019A>G r.(?) p.(Asn340Ser) g.70302226T>C Copied from the Exome Variant Server AARS_000162 2/12996 2/8600 0/4396
?/? c.1044G>A r.(=) p.(=) g.70302201C>T Copied from the Exome Variant Server AARS_000161 1/12996 1/8600 0/4396
?/? c.1071+43C>T r.(=) p.(=) g.70302131G>A Copied from the Exome Variant Server AARS_000160 3/12996 3/8600 0/4396
?/? c.1071+44G>A r.(=) p.(=) g.70302130C>T Copied from the Exome Variant Server AARS_000159 3/12996 2/8600 1/4396
?/? c.1073G>T r.(?) p.(Gly358Val) g.70301711C>A Copied from the Exome Variant Server AARS_000158 1/12996 1/8600 0/4396
?/? c.1075G>A r.(?) p.(Asp359Asn) g.70301709C>T Copied from the Exome Variant Server AARS_000157 1/12996 1/8600 0/4396
?/? c.1102C>T r.(?) p.(Pro368Ser) g.70301682G>A Copied from the Exome Variant Server AARS_000156 1/12996 1/8600 0/4396
?/? c.1108A>G r.(?) p.(Met370Val) g.70301676T>C Copied from the Exome Variant Server AARS_000155 1/12996 1/8600 0/4396
?/? c.1119C>T r.(=) p.(=) g.70301665G>A Copied from the Exome Variant Server AARS_000154 1/12996 1/8600 0/4396
?/? c.1120A>G r.(?) p.(Ile374Val) g.70301664T>C Copied from the Exome Variant Server AARS_000153 1/12996 1/8600 0/4396
?/? c.1140G>A r.(=) p.(=) g.70301644C>T Copied from the Exome Variant Server AARS_000152 2/12996 1/8600 1/4396
?/? c.1171C>A r.(?) p.(Arg391Ser) g.70301613G>T Copied from the Exome Variant Server AARS_000151 1/12996 0/8600 1/4396
?/? c.1182C>G r.(?) p.(Asp394Glu) g.70301602G>C Copied from the Exome Variant Server AARS_000150 1/12996 0/8600 1/4396
?/? c.1192C>G r.(?) p.(Gln398Glu) g.70301592G>C Copied from the Exome Variant Server AARS_000149 1/12996 0/8600 1/4396
?/? c.1195A>G r.(?) p.(Ser399Gly) g.70301589T>C Copied from the Exome Variant Server AARS_000148 1/12996 0/8600 1/4396
?/? c.1196G>A r.(?) p.(Ser399Asn) g.70301588C>T Copied from the Exome Variant Server AARS_000147 1/12996 0/8600 1/4396
?/? c.1219C>A r.(?) p.(Pro407Thr) g.70301565G>T Copied from the Exome Variant Server AARS_000146 1/12996 0/8600 1/4396
?/? c.1222G>A r.(?) p.(Gly408Arg) g.70301562C>T Copied from the Exome Variant Server AARS_000145 1/12996 1/8600 0/4396
?/? c.1223-26_1223-25insT r.(=) p.(=) g.70299590_70299591insA Copied from the Exome Variant Server AARS_000144 853/12516 749/8254 104/4262
?/? c.1223-17T>G r.(=) p.(=) g.70299582A>C Copied from the Exome Variant Server AARS_000143 1/12996 0/8600 1/4396
?/? c.1223-15C>T r.(=) p.(=) g.70299580G>A Copied from the Exome Variant Server AARS_000142 1/12996 0/8600 1/4396
?/? c.1244A>G r.(?) p.(Tyr415Cys) g.70299544T>C Copied from the Exome Variant Server AARS_000141 1/12996 1/8600 0/4396
?/? c.1253A>G r.(?) p.(Tyr418Cys) g.70299535T>C Copied from the Exome Variant Server AARS_000140 2/12996 0/8600 2/4396
?/? c.1332G>A r.(=) p.(=) g.70299456C>T Copied from the Exome Variant Server AARS_000139 10/12996 10/8600 0/4396
?/? c.1347G>A r.(=) p.(=) g.70299441C>T Copied from the Exome Variant Server AARS_000138 1/12996 1/8600 0/4396
?/? c.1347+21A>G r.(=) p.(=) g.70299420T>C Copied from the Exome Variant Server AARS_000137 1347/12996 10/8600 1337/4396
?/? c.1347+22C>T r.(=) p.(=) g.70299419G>A Copied from the Exome Variant Server AARS_000136 1/12996 0/8600 1/4396
?/? c.1347+38T>G r.(=) p.(=) g.70299403A>C Copied from the Exome Variant Server AARS_000135 2/12996 0/8600 2/4396
?/? c.1347+40C>G r.(=) p.(=) g.70299401G>C Copied from the Exome Variant Server AARS_000134 1009/12996 7/8600 1002/4396
?/? c.1348-20C>G r.(=) p.(=) g.70299025G>C Copied from the Exome Variant Server AARS_000133 1/12996 1/8600 0/4396
?/? c.1348-19T>G r.(=) p.(=) g.70299024A>C Copied from the Exome Variant Server AARS_000132 1/12996 1/8600 0/4396
?/? c.1360G>A r.(?) p.(Gly454Ser) g.70298993C>T Copied from the Exome Variant Server AARS_000131 1/12996 1/8600 0/4396
?/? c.1399A>G r.(?) p.(Ile467Val) g.70298954T>C Copied from the Exome Variant Server AARS_000130 1/12996 1/8600 0/4396
?/? c.1404C>T r.(=) p.(=) g.70298949G>A Copied from the Exome Variant Server AARS_000129 86/12996 76/8600 10/4396
?/? c.1405G>A r.(?) p.(Ala469Thr) g.70298948C>T Copied from the Exome Variant Server AARS_000128 3/12996 3/8600 0/4396
?/? c.1410C>T r.(=) p.(=) g.70298943G>A Copied from the Exome Variant Server AARS_000127 1/12996 1/8600 0/4396
?/? c.1419C>G r.(=) p.(=) g.70298934G>C Copied from the Exome Variant Server AARS_000126 1/12996 1/8600 0/4396
?/? c.1420C>T r.(?) p.(Arg474Trp) g.70298933G>A Copied from the Exome Variant Server AARS_000125 1/12996 1/8600 0/4396
?/? c.1428G>C r.(=) p.(=) g.70298925C>G Copied from the Exome Variant Server AARS_000124 5/12996 2/8600 3/4396
?/? c.1435G>A r.(?) p.(Glu479Lys) g.70298918C>T Copied from the Exome Variant Server AARS_000123 1/12996 1/8600 0/4396
?/? c.1479C>T r.(=) p.(=) g.70298874G>A Copied from the Exome Variant Server AARS_000122 1/12996 1/8600 0/4396
?/? c.1492+42G>A r.(=) p.(=) g.70298819C>T Copied from the Exome Variant Server AARS_000121 1/12996 1/8600 0/4396
?/? c.1493-36C>T r.(=) p.(=) g.70296463G>A Copied from the Exome Variant Server AARS_000120 33/12996 30/8600 3/4396
?/? c.1493-32C>A r.(=) p.(=) g.70296459G>T Copied from the Exome Variant Server AARS_000119 1/12996 0/8600 1/4396
?/? c.1493-28C>T r.(=) p.(=) g.70296455G>A Copied from the Exome Variant Server AARS_000118 2/12996 0/8600 2/4396
?/? c.1493-7T>C r.(=) p.(=) g.70296434A>G Copied from the Exome Variant Server AARS_000117 1/12996 1/8600 0/4396
?/? c.1509G>A r.(=) p.(=) g.70296411C>T Copied from the Exome Variant Server AARS_000116 2/12996 2/8600 0/4396
?/? c.1528C>T r.(?) p.(Arg510Cys) g.70296392G>A Copied from the Exome Variant Server AARS_000115 1/12996 1/8600 0/4396
?/? c.1533G>A r.(=) p.(=) g.70296387C>T Copied from the Exome Variant Server AARS_000114 1/12996 1/8600 0/4396
?/? c.1545C>T r.(=) p.(=) g.70296375G>A Copied from the Exome Variant Server AARS_000113 1/12996 0/8600 1/4396
Legend   « First ‹ Prev     1 2 3     Next › Last »