UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.13708_13755del | CA2740098359 | MT-ND5 | c.1372_1419del (p.Ala458_Ser473del) | |
| MT | m.13728A= | CA2573325280 | MT-ND5 | c.1392A= (p.Ala464=) | |
| MT | m.13728A>C | CA913171160 | MT-ND5 | c.1392A>C (p.Ala464=) | |
| MT | m.13728A>G | CA913171161 | MT-ND5 | c.1392A>G (p.Ala464=) | |
| MT | m.13728A>T | CA913171162 | MT-ND5 | c.1392A>T (p.Ala464=) | |
| MT | m.13729G>A | CA414819258 | MT-ND5 | c.1393G>A (p.Gly465Arg) | dbSNP |
| MT | m.13729G>C | CA414819260 | MT-ND5 | c.1393G>C (p.Gly465Arg) | |
| MT | m.13729G= | CA2499568133 | MT-ND5 | c.1393G= (p.Gly465=) | |
| MT | m.13729G>T | CA414819262 | MT-ND5 | c.1393G>T (p.Gly465Ter) | |
| MT | m.13730G>A | CA340936 | MT-ND5 | c.1394G>A (p.Gly465Glu) | ClinVar dbSNP |
| MT | m.13730G>C | CA414819265 | MT-ND5 | c.1394G>C (p.Gly465Ala) | |
| MT | m.13730G= | CA2499568134 | MT-ND5 | c.1394G= (p.Gly465=) | |
| MT | m.13730G>T | CA414819267 | MT-ND5 | c.1394G>T (p.Gly465Val) | |
| MT | m.13731A= | CA2499568135 | MT-ND5 | c.1395A= (p.Gly465=) | |
| MT | m.13731A>C | CA913171163 | MT-ND5 | c.1395A>C (p.Gly465=) | |
| MT | m.13731A>G | CA913171164 | MT-ND5 | c.1395A>G (p.Gly465=) | dbSNP |
| MT | m.13731A>T | CA913171165 | MT-ND5 | c.1395A>T (p.Gly465=) | |
| MT | m.13732T>A | CA414819269 | MT-ND5 | c.1396T>A (p.Phe466Ile) | |
| MT | m.13732T>C | CA414819271 | MT-ND5 | c.1396T>C (p.Phe466Leu) | |
| MT | m.13732T>G | CA414819273 | MT-ND5 | c.1396T>G (p.Phe466Val) | |
| MT | m.13732T= | CA2573325293 | MT-ND5 | c.1396T= (p.Phe466=) | |
| MT | m.13732_13733insGGGG | CA2740098364 | MT-ND5 | c.1396_1397insGGGG (p.Phe466TrpfsTer6) | |
| MT | m.13733T>A | CA414819275 | MT-ND5 | c.1397T>A (p.Phe466Tyr) | |
| MT | m.13733T>C | CA414819279 | MT-ND5 | c.1397T>C (p.Phe466Ser) | |
| MT | m.13733T>G | CA414819277 | MT-ND5 | c.1397T>G (p.Phe466Cys) | |
| MT | m.13733T= | CA2573325297 | MT-ND5 | c.1397T= (p.Phe466=) | |
| MT | m.13734T>A | CA414819281 | MT-ND5 | c.1398T>A (p.Phe466Leu) | |
| MT | m.13734T>C | CA337099788 | MT-ND5 | c.1398T>C (p.Phe466=) | dbSNP |
| MT | m.13734T>G | CA414819285 | MT-ND5 | c.1398T>G (p.Phe466Leu) | |
| MT | m.13734T= | CA2499568136 | MT-ND5 | c.1398T= (p.Phe466=) | |
| MT | m.13735C>A | CA414819287 | MT-ND5 | c.1399C>A (p.Leu467Ile) | |
| MT | m.13735C= | CA2573325301 | MT-ND5 | c.1399C= (p.Leu467=) | |
| MT | m.13735C>G | CA414819289 | MT-ND5 | c.1399C>G (p.Leu467Val) | |
| MT | m.13735C>T | CA414819291 | MT-ND5 | c.1399C>T (p.Leu467Phe) | |
| MT | m.13735_13737del | CA2740098367 | MT-ND5 | c.1399_1401del (p.Leu467del) | |
| MT | m.13736T>A | CA414819294 | MT-ND5 | c.1400T>A (p.Leu467His) | |
| MT | m.13736T>C | CA414819296 | MT-ND5 | c.1400T>C (p.Leu467Pro) | |
| MT | m.13736T>G | CA414819297 | MT-ND5 | c.1400T>G (p.Leu467Arg) | |
| MT | m.13736T= | CA2573325307 | MT-ND5 | c.1400T= (p.Leu467=) | |
| MT | m.13737C>A | CA913171166 | MT-ND5 | c.1401C>A (p.Leu467=) | |
| MT | m.13737C= | CA2499568137 | MT-ND5 | c.1401C= (p.Leu467=) | |
| MT | m.13737C>G | CA913171167 | MT-ND5 | c.1401C>G (p.Leu467=) | |
| MT | m.13737C>T | CA913171168 | MT-ND5 | c.1401C>T (p.Leu467=) | dbSNP |
| MT | m.13738A= | CA2573325308 | MT-ND5 | c.1402A= (p.Ile468=) | |
| MT | m.13738A>C | CA414819302 | MT-ND5 | c.1402A>C (p.Ile468Leu) | |
| MT | m.13738A>G | CA414819304 | MT-ND5 | c.1402A>G (p.Ile468Val) | |
| MT | m.13738A>T | CA414819300 | MT-ND5 | c.1402A>T (p.Ile468Phe) | |
| MT | m.13739T>A | CA414819310 | MT-ND5 | c.1403T>A (p.Ile468Asn) | |
| MT | m.13739T>C | CA414819306 | MT-ND5 | c.1403T>C (p.Ile468Thr) | dbSNP |
| MT | m.13739T>G | CA414819308 | MT-ND5 | c.1403T>G (p.Ile468Ser) | |
| MT | m.13739T= | CA2499568138 | MT-ND5 | c.1403T= (p.Ile468=) | |
| MT | m.13740T>A | CA913171169 | MT-ND5 | c.1404T>A (p.Ile468=) | |
| MT | m.13740T>C | CA337099790 | MT-ND5 | c.1404T>C (p.Ile468=) | dbSNP |
| MT | m.13740T>G | CA414819312 | MT-ND5 | c.1404T>G (p.Ile468Met) | |
| MT | m.13740T= | CA2499568139 | MT-ND5 | c.1404T= (p.Ile468=) | |
| MT | m.13741A= | CA2499568140 | MT-ND5 | c.1405A= (p.Thr469=) | |
| MT | m.13741A>C | CA414819315 | MT-ND5 | c.1405A>C (p.Thr469Pro) | |
| MT | m.13741A>G | CA414819317 | MT-ND5 | c.1405A>G (p.Thr469Ala) | ClinVar dbSNP |
| MT | m.13741A>T | CA414819318 | MT-ND5 | c.1405A>T (p.Thr469Ser) | |
| MT | m.13742C>A | CA414819322 | MT-ND5 | c.1406C>A (p.Thr469Asn) | |
| MT | m.13742C= | CA2499568141 | MT-ND5 | c.1406C= (p.Thr469=) | |
| MT | m.13742C>G | CA414819323 | MT-ND5 | c.1406C>G (p.Thr469Ser) | |
| MT | m.13742C>T | CA337099792 | MT-ND5 | c.1406C>T (p.Thr469Ile) | dbSNP |
| MT | m.13742_13743insAATTCT | CA2740098369 | MT-ND5 | c.1406_1407insAATTCT (p.Thr469_Asn470insIleLeu) | |
| MT | m.13743T>A | CA913171170 | MT-ND5 | c.1407T>A (p.Thr469=) | |
| MT | m.13743T>C | CA913171171 | MT-ND5 | c.1407T>C (p.Thr469=) | dbSNP |
| MT | m.13743T>G | CA913171172 | MT-ND5 | c.1407T>G (p.Thr469=) | |
| MT | m.13743T= | CA2499568142 | MT-ND5 | c.1407T= (p.Thr469=) | |
| MT | m.13744A= | CA2573325325 | MT-ND5 | c.1408A= (p.Asn470=) | |
| MT | m.13744A>C | CA414819326 | MT-ND5 | c.1408A>C (p.Asn470His) | |
| MT | m.13744A>G | CA414819328 | MT-ND5 | c.1408A>G (p.Asn470Asp) | |
| MT | m.13744A>T | CA414819330 | MT-ND5 | c.1408A>T (p.Asn470Tyr) | |
| MT | m.13748_13750del | CA2573105255 | MT-ND5 | c.1412_1414del (p.Asn471del) | |
| MT | m.13745A= | CA2573325330 | MT-ND5 | c.1409A= (p.Asn470=) | |
| MT | m.13745A>C | CA414819332 | MT-ND5 | c.1409A>C (p.Asn470Thr) | |
| MT | m.13745A>G | CA414819336 | MT-ND5 | c.1409A>G (p.Asn470Ser) | |
| MT | m.13745A>T | CA414819334 | MT-ND5 | c.1409A>T (p.Asn470Ile) | |
| MT | m.13746C>A | CA414819339 | MT-ND5 | c.1410C>A (p.Asn470Lys) | |
| MT | m.13746C= | CA2499568143 | MT-ND5 | c.1410C= (p.Asn470=) | |
| MT | m.13746C>G | CA414819340 | MT-ND5 | c.1410C>G (p.Asn470Lys) | |
| MT | m.13746C>T | CA913171173 | MT-ND5 | c.1410C>T (p.Asn470=) | dbSNP |
| MT | m.13747A= | CA2573325337 | MT-ND5 | c.1411A= (p.Asn471=) | |
| MT | m.13747A>C | CA414819342 | MT-ND5 | c.1411A>C (p.Asn471His) | |
| MT | m.13747A>G | CA414819344 | MT-ND5 | c.1411A>G (p.Asn471Asp) | |
| MT | m.13747A>T | CA414819346 | MT-ND5 | c.1411A>T (p.Asn471Tyr) | |
| MT | m.13748A= | CA2499568144 | MT-ND5 | c.1412A= (p.Asn471=) | |
| MT | m.13748A>C | CA414819349 | MT-ND5 | c.1412A>C (p.Asn471Thr) | |
| MT | m.13748A>G | CA337099794 | MT-ND5 | c.1412A>G (p.Asn471Ser) | ClinVar dbSNP |
| MT | m.13748A>T | CA414819352 | MT-ND5 | c.1412A>T (p.Asn471Ile) | |
| MT | m.13749C>A | CA414819354 | MT-ND5 | c.1413C>A (p.Asn471Lys) | |
| MT | m.13749C= | CA2499568145 | MT-ND5 | c.1413C= (p.Asn471=) | |
| MT | m.13749C>G | CA414819355 | MT-ND5 | c.1413C>G (p.Asn471Lys) | |
| MT | m.13749C>T | CA913171174 | MT-ND5 | c.1413C>T (p.Asn471=) | dbSNP |
| MT | m.13750A= | CA2573325345 | MT-ND5 | c.1414A= (p.Ile472=) | |
| MT | m.13750A>C | CA414819362 | MT-ND5 | c.1414A>C (p.Ile472Leu) | |
| MT | m.13750A>G | CA414819360 | MT-ND5 | c.1414A>G (p.Ile472Val) | |
| MT | m.13750A>T | CA414819358 | MT-ND5 | c.1414A>T (p.Ile472Phe) | |
| MT | m.13751T>A | CA414819364 | MT-ND5 | c.1415T>A (p.Ile472Asn) | |
| MT | m.13751T>C | CA414819366 | MT-ND5 | c.1415T>C (p.Ile472Thr) | |
| MT | m.13751T>G | CA414819368 | MT-ND5 | c.1415T>G (p.Ile472Ser) | |
| MT | m.13751T= | CA2573325347 | MT-ND5 | c.1415T= (p.Ile472=) | |
| MT | m.13752T>A | CA913171175 | MT-ND5 | c.1416T>A (p.Ile472=) | |
| MT | m.13752T>C | CA337099796 | MT-ND5 | c.1416T>C (p.Ile472=) | dbSNP |
| MT | m.13752T>G | CA414819371 | MT-ND5 | c.1416T>G (p.Ile472Met) | |
| MT | m.13752T= | CA2499568146 | MT-ND5 | c.1416T= (p.Ile472=) | |
| MT | m.13753T>A | CA414819373 | MT-ND5 | c.1417T>A (p.Ser473Thr) | |
| MT | m.13753T>C | CA414819375 | MT-ND5 | c.1417T>C (p.Ser473Pro) | ClinVar dbSNP |
| MT | m.13753T>G | CA414819377 | MT-ND5 | c.1417T>G (p.Ser473Ala) | |
| MT | m.13753T= | CA2499568147 | MT-ND5 | c.1417T= (p.Ser473=) | |
| MT | m.13754C>A | CA414819379 | MT-ND5 | c.1418C>A (p.Ser473Tyr) | |
| MT | m.13754C= | CA2499568148 | MT-ND5 | c.1418C= (p.Ser473=) | |
| MT | m.13754C>G | CA414819382 | MT-ND5 | c.1418C>G (p.Ser473Cys) | |
| MT | m.13754C>T | CA414819383 | MT-ND5 | c.1418C>T (p.Ser473Phe) | ClinVar dbSNP |
| MT | m.13758dup | CA2740098372 | MT-ND5 | c.1422dup (p.Ala475ArgfsTer?) | |
| MT | m.13755C>A | CA913171176 | MT-ND5 | c.1419C>A (p.Ser473=) | |
| MT | m.13755C= | CA2499568149 | MT-ND5 | c.1419C= (p.Ser473=) | |
| MT | m.13755C>G | CA913171177 | MT-ND5 | c.1419C>G (p.Ser473=) | |
| MT | m.13755C>T | CA337099798 | MT-ND5 | c.1419C>T (p.Ser473=) | dbSNP |
| MT | m.13756C>A | CA414819391 | MT-ND5 | c.1420C>A (p.Pro474Thr) | |
| MT | m.13756C= | CA2573325358 | MT-ND5 | c.1420C= (p.Pro474=) | |
| MT | m.13756C>G | CA414819387 | MT-ND5 | c.1420C>G (p.Pro474Ala) | |
| MT | m.13756C>T | CA414819389 | MT-ND5 | c.1420C>T (p.Pro474Ser) | |
| MT | m.13757C>A | CA414819393 | MT-ND5 | c.1421C>A (p.Pro474His) | |
| MT | m.13757C= | CA2573325362 | MT-ND5 | c.1421C= (p.Pro474=) | |
| MT | m.13757C>G | CA414819395 | MT-ND5 | c.1421C>G (p.Pro474Arg) | |
| MT | m.13757C>T | CA414819397 | MT-ND5 | c.1421C>T (p.Pro474Leu) | |
| MT | m.13758C>A | CA913171178 | MT-ND5 | c.1422C>A (p.Pro474=) | dbSNP |
| MT | m.13758C= | CA2499568150 | MT-ND5 | c.1422C= (p.Pro474=) | |
| MT | m.13758C>G | CA913171179 | MT-ND5 | c.1422C>G (p.Pro474=) | |
| MT | m.13758C>T | CA913171180 | MT-ND5 | c.1422C>T (p.Pro474=) | |
| MT | m.13758_13759insT | CA2740098373 | MT-ND5 | c.1422_1423insT (p.Ala475CysfsTer?) | |
| MT | m.13759G>A | CA337099800 | MT-ND5 | c.1423G>A (p.Ala475Thr) | ClinVar dbSNP |
| MT | m.13759G>C | CA337099802 | MT-ND5 | c.1423G>C (p.Ala475Pro) | |
| MT | m.13759G= | CA2499568151 | MT-ND5 | c.1423G= (p.Ala475=) | |
| MT | m.13759G>T | CA337099804 | MT-ND5 | c.1423G>T (p.Ala475Ser) | |
| MT | m.13759_13760insTCCATTGGTCCACAGTACTCATCCTT | CA2740098374 | MT-ND5 | c.1423_1424insTCCATTGGTCCACAGTACTCATCCTT (p.Ala475ValfsTer21) | |
| MT | m.13760C>A | CA414819402 | MT-ND5 | c.1424C>A (p.Ala475Glu) | |
| MT | m.13760C= | CA2499568152 | MT-ND5 | c.1424C= (p.Ala475=) | |
| MT | m.13760C>G | CA414819404 | MT-ND5 | c.1424C>G (p.Ala475Gly) | |
| MT | m.13760C>T | CA414819406 | MT-ND5 | c.1424C>T (p.Ala475Val) | ClinVar dbSNP |
| MT | m.13761_13763del | CA2740098375 | MT-ND5 | c.1425_1427del (p.Ser476del) | |
| MT | m.13761A= | CA2499568153 | MT-ND5 | c.1425A= (p.Ala475=) | |
| MT | m.13761A>C | CA913171181 | MT-ND5 | c.1425A>C (p.Ala475=) | |
| MT | m.13761A>G | CA913171182 | MT-ND5 | c.1425A>G (p.Ala475=) | dbSNP |
| MT | m.13761A>T | CA913171183 | MT-ND5 | c.1425A>T (p.Ala475=) | |
| MT | m.13761_13762del | CA2573105256 | MT-ND5 | c.1425_1426del (p.Ser476ProfsTer?) | |
| MT | m.13761_13762insCCCCCCCCCCCCCCCC | CA2573105257 | MT-ND5 | c.1425_1426insCCCCCCCCCCCCCCCC (p.Ser476ProfsTer?) | |
| MT | m.13762T>A | CA414819408 | MT-ND5 | c.1426T>A (p.Ser476Thr) | ClinVar dbSNP |
| MT | m.13762T>C | CA414819410 | MT-ND5 | c.1426T>C (p.Ser476Pro) | dbSNP |
| MT | m.13762T>G | CA337099806 | MT-ND5 | c.1426T>G (p.Ser476Ala) | ClinVar dbSNP |
| MT | m.13762T= | CA2499568154 | MT-ND5 | c.1426T= (p.Ser476=) | |
| MT | m.13763C>A | CA414819415 | MT-ND5 | c.1427C>A (p.Ser476Tyr) | |
| MT | m.13763C= | CA2499568155 | MT-ND5 | c.1427C= (p.Ser476=) | |
| MT | m.13763C>G | CA414819417 | MT-ND5 | c.1427C>G (p.Ser476Cys) | |
| MT | m.13763C>T | CA414819413 | MT-ND5 | c.1427C>T (p.Ser476Phe) | ClinVar dbSNP |
| MT | m.13764C>A | CA913171184 | MT-ND5 | c.1428C>A (p.Ser476=) | |
| MT | m.13764C= | CA2499568156 | MT-ND5 | c.1428C= (p.Ser476=) | |
| MT | m.13764C>G | CA913171185 | MT-ND5 | c.1428C>G (p.Ser476=) | |
| MT | m.13764C>T | CA337099808 | MT-ND5 | c.1428C>T (p.Ser476=) | dbSNP |
| MT | m.13765C>A | CA414819420 | MT-ND5 | c.1429C>A (p.Pro477Thr) | |
| MT | m.13765C= | CA2499568157 | MT-ND5 | c.1429C= (p.Pro477=) | |
| MT | m.13765C>G | CA414819422 | MT-ND5 | c.1429C>G (p.Pro477Ala) | |
| MT | m.13765C>T | CA414819424 | MT-ND5 | c.1429C>T (p.Pro477Ser) | dbSNP |
| MT | m.13766C>A | CA414819426 | MT-ND5 | c.1430C>A (p.Pro477His) | dbSNP |
| MT | m.13766C= | CA2499568158 | MT-ND5 | c.1430C= (p.Pro477=) | |
| MT | m.13766C>G | CA414819427 | MT-ND5 | c.1430C>G (p.Pro477Arg) | |
| MT | m.13766C>T | CA414819429 | MT-ND5 | c.1430C>T (p.Pro477Leu) | |
| MT | m.13767C>A | CA913171186 | MT-ND5 | c.1431C>A (p.Pro477=) | |
| MT | m.13767C= | CA2513182225 | MT-ND5 | c.1431C= (p.Pro477=) | |
| MT | m.13767C>G | CA913171187 | MT-ND5 | c.1431C>G (p.Pro477=) | |
| MT | m.13767C>T | CA913171188 | MT-ND5 | c.1431C>T (p.Pro477=) | |
| MT | m.13768T>A | CA414819436 | MT-ND5 | c.1432T>A (p.Phe478Ile) | ClinVar dbSNP |
| MT | m.13768T>C | CA414819432 | MT-ND5 | c.1432T>C (p.Phe478Leu) | ClinVar dbSNP |
| MT | m.13768T>G | CA414819434 | MT-ND5 | c.1432T>G (p.Phe478Val) | |
| MT | m.13768T= | CA2499568159 | MT-ND5 | c.1432T= (p.Phe478=) | |
| MT | m.13768_13769del | CA2573105260 | MT-ND5 | c.1432_1433del (p.Phe478ProfsTer?) | |
| MT | m.13769T>A | CA414819438 | MT-ND5 | c.1433T>A (p.Phe478Tyr) | |
| MT | m.13769T>C | CA414819440 | MT-ND5 | c.1433T>C (p.Phe478Ser) | |
| MT | m.13769T>G | CA414819442 | MT-ND5 | c.1433T>G (p.Phe478Cys) | |
| MT | m.13769T= | CA2573325405 | MT-ND5 | c.1433T= (p.Phe478=) | |
| MT | m.13770C>A | CA414819444 | MT-ND5 | c.1434C>A (p.Phe478Leu) | ClinVar dbSNP |
| MT | m.13770C= | CA2499568160 | MT-ND5 | c.1434C= (p.Phe478=) | |
| MT | m.13770C>G | CA414819445 | MT-ND5 | c.1434C>G (p.Phe478Leu) | |
| MT | m.13770C>T | CA913171189 | MT-ND5 | c.1434C>T (p.Phe478=) | |
| MT | m.13771C>A | CA414819448 | MT-ND5 | c.1435C>A (p.Gln479Lys) | |
| MT | m.13771C= | CA2573325414 | MT-ND5 | c.1435C= (p.Gln479=) | |
| MT | m.13771C>G | CA414819451 | MT-ND5 | c.1435C>G (p.Gln479Glu) | |
| MT | m.13771C>T | CA414819449 | MT-ND5 | c.1435C>T (p.Gln479Ter) | |
| MT | m.13772A= | CA2573325417 | MT-ND5 | c.1436A= (p.Gln479=) | |
| MT | m.13772A>C | CA414819454 | MT-ND5 | c.1436A>C (p.Gln479Pro) | |
| MT | m.13772A>G | CA414819455 | MT-ND5 | c.1436A>G (p.Gln479Arg) | |
| MT | m.13772A>T | CA414819457 | MT-ND5 | c.1436A>T (p.Gln479Leu) | |
| MT | m.13772_13774del | CA2573105276 | MT-ND5 | c.1436_1438del (p.Gln479_Thr480delinsPro) | |
| MT | m.13773A= | CA2573325420 | MT-ND5 | c.1437A= (p.Gln479=) | |
| MT | m.13773A>C | CA414819460 | MT-ND5 | c.1437A>C (p.Gln479His) | |
| MT | m.13773A>G | CA913171190 | MT-ND5 | c.1437A>G (p.Gln479=) | dbSNP |
| MT | m.13773A>T | CA414819461 | MT-ND5 | c.1437A>T (p.Gln479His) | |
| MT | m.13778_13780dup | CA2740098376 | MT-ND5 | c.1442_1444dup (p.Thr481_Ile482insThr) | |
| MT | m.13774A= | CA2573325421 | MT-ND5 | c.1438A= (p.Thr480=) | |
| MT | m.13774A>C | CA414819464 | MT-ND5 | c.1438A>C (p.Thr480Pro) | |
| MT | m.13774A>G | CA414819465 | MT-ND5 | c.1438A>G (p.Thr480Ala) | |
| MT | m.13774A>T | CA414819467 | MT-ND5 | c.1438A>T (p.Thr480Ser) | |
| MT | m.13775C>A | CA414819469 | MT-ND5 | c.1439C>A (p.Thr480Lys) | |
| MT | m.13775C= | CA2573325424 | MT-ND5 | c.1439C= (p.Thr480=) | |
| MT | m.13775C>G | CA414819471 | MT-ND5 | c.1439C>G (p.Thr480Arg) | |
| MT | m.13775C>T | CA414819473 | MT-ND5 | c.1439C>T (p.Thr480Ile) | |
| MT | m.13776A= | CA2499568161 | MT-ND5 | c.1440A= (p.Thr480=) | |
| MT | m.13776A>C | CA913171193 | MT-ND5 | c.1440A>C (p.Thr480=) | |
| MT | m.13776A>G | CA913171191 | MT-ND5 | c.1440A>G (p.Thr480=) | dbSNP |
| MT | m.13776A>T | CA913171192 | MT-ND5 | c.1440A>T (p.Thr480=) | |
| MT | m.13776_13781del | CA2573105278 | MT-ND5 | c.1440_1445del (p.Thr481_Ile482del) | |
| MT | m.13777A= | CA2573325432 | MT-ND5 | c.1441A= (p.Thr481=) | |
| MT | m.13777A>C | CA414819479 | MT-ND5 | c.1441A>C (p.Thr481Pro) | |
| MT | m.13777A>G | CA414819476 | MT-ND5 | c.1441A>G (p.Thr481Ala) | |
| MT | m.13777A>T | CA414819477 | MT-ND5 | c.1441A>T (p.Thr481Ser) | |
| MT | m.13778_13779del | CA2573105279 | MT-ND5 | c.1442_1443del (p.Thr481AsnfsTer?) | |
| MT | m.13778C>A | CA414819481 | MT-ND5 | c.1442C>A (p.Thr481Lys) | |
| MT | m.13778C= | CA2573325436 | MT-ND5 | c.1442C= (p.Thr481=) | |
| MT | m.13778C>G | CA414819483 | MT-ND5 | c.1442C>G (p.Thr481Arg) | |
| MT | m.13778C>T | CA414819484 | MT-ND5 | c.1442C>T (p.Thr481Ile) | |
| MT | m.13779A= | CA2573325439 | MT-ND5 | c.1443A= (p.Thr481=) | |
| MT | m.13779A>C | CA913171196 | MT-ND5 | c.1443A>C (p.Thr481=) | |
| MT | m.13779A>G | CA913171195 | MT-ND5 | c.1443A>G (p.Thr481=) | |
| MT | m.13779A>T | CA913171194 | MT-ND5 | c.1443A>T (p.Thr481=) | |
| MT | m.13780A= | CA2499568162 | MT-ND5 | c.1444A= (p.Ile482=) | |
| MT | m.13780A>C | CA414819487 | MT-ND5 | c.1444A>C (p.Ile482Leu) | |
| MT | m.13780A>G | CA337099810 | MT-ND5 | c.1444A>G (p.Ile482Val) | ClinVar dbSNP |
| MT | m.13780A>T | CA414819489 | MT-ND5 | c.1444A>T (p.Ile482Phe) | |
| MT | m.13781T>A | CA414819492 | MT-ND5 | c.1445T>A (p.Ile482Asn) | |
| MT | m.13781T>C | CA337099812 | MT-ND5 | c.1445T>C (p.Ile482Thr) | ClinVar dbSNP |
| MT | m.13781T>G | CA414819495 | MT-ND5 | c.1445T>G (p.Ile482Ser) | |
| MT | m.13781T= | CA2499568163 | MT-ND5 | c.1445T= (p.Ile482=) | |
| MT | m.13782C>A | CA913171197 | MT-ND5 | c.1446C>A (p.Ile482=) | |
| MT | m.13782C= | CA2499568164 | MT-ND5 | c.1446C= (p.Ile482=) | |
| MT | m.13782C>G | CA414819497 | MT-ND5 | c.1446C>G (p.Ile482Met) | |
| MT | m.13782C>T | CA337099814 | MT-ND5 | c.1446C>T (p.Ile482=) | dbSNP |
| MT | m.13783C>A | CA414819504 | MT-ND5 | c.1447C>A (p.Pro483Thr) | |
| MT | m.13783C= | CA2573325455 | MT-ND5 | c.1447C= (p.Pro483=) | |
| MT | m.13783C>G | CA414819502 | MT-ND5 | c.1447C>G (p.Pro483Ala) | |
| MT | m.13783C>T | CA414819501 | MT-ND5 | c.1447C>T (p.Pro483Ser) | |
| MT | m.13784C>A | CA414819507 | MT-ND5 | c.1448C>A (p.Pro483His) | |
| MT | m.13784C= | CA2573325458 | MT-ND5 | c.1448C= (p.Pro483=) | |
| MT | m.13784C>G | CA414819508 | MT-ND5 | c.1448C>G (p.Pro483Arg) | |
| MT | m.13784C>T | CA414819510 | MT-ND5 | c.1448C>T (p.Pro483Leu) | |
| MT | m.13785C>A | CA913171198 | MT-ND5 | c.1449C>A (p.Pro483=) | |
| MT | m.13785C= | CA2499568165 | MT-ND5 | c.1449C= (p.Pro483=) | |
| MT | m.13785C>G | CA913171199 | MT-ND5 | c.1449C>G (p.Pro483=) | |
| MT | m.13785C>T | CA913171200 | MT-ND5 | c.1449C>T (p.Pro483=) | dbSNP |
| MT | m.13786C>A | CA414819513 | MT-ND5 | c.1450C>A (p.Leu484Ile) | |
| MT | m.13786C= | CA2499568166 | MT-ND5 | c.1450C= (p.Leu484=) | |
| MT | m.13786C>G | CA414819514 | MT-ND5 | c.1450C>G (p.Leu484Val) | |
| MT | m.13786C>T | CA414819516 | MT-ND5 | c.1450C>T (p.Leu484Phe) | dbSNP |
| MT | m.13787T>A | CA414819519 | MT-ND5 | c.1451T>A (p.Leu484His) | |
| MT | m.13787T>C | CA414819520 | MT-ND5 | c.1451T>C (p.Leu484Pro) | |
| MT | m.13787T>G | CA414819522 | MT-ND5 | c.1451T>G (p.Leu484Arg) | |
| MT | m.13787T= | CA2573325466 | MT-ND5 | c.1451T= (p.Leu484=) | |
| MT | m.13788C>A | CA913171201 | MT-ND5 | c.1452C>A (p.Leu484=) | dbSNP |
| MT | m.13788C= | CA2499568167 | MT-ND5 | c.1452C= (p.Leu484=) | |
| MT | m.13788C>G | CA913171202 | MT-ND5 | c.1452C>G (p.Leu484=) | |
| MT | m.13788C>T | CA913171203 | MT-ND5 | c.1452C>T (p.Leu484=) | dbSNP |
| MT | m.13789T>A | CA414819524 | MT-ND5 | c.1453T>A (p.Tyr485Asn) | |
| MT | m.13789T>C | CA337099816 | MT-ND5 | c.1453T>C (p.Tyr485His) | ClinVar dbSNP |
| MT | m.13789T>G | CA414819527 | MT-ND5 | c.1453T>G (p.Tyr485Asp) | |
| MT | m.13789T= | CA2499568168 | MT-ND5 | c.1453T= (p.Tyr485=) | |
| MT | m.13790A= | CA2499568169 | MT-ND5 | c.1454A= (p.Tyr485=) | |
| MT | m.13790A>C | CA414819529 | MT-ND5 | c.1454A>C (p.Tyr485Ser) | |
| MT | m.13790A>G | CA414819533 | MT-ND5 | c.1454A>G (p.Tyr485Cys) | ClinVar dbSNP |
| MT | m.13790A>T | CA414819531 | MT-ND5 | c.1454A>T (p.Tyr485Phe) | |
| MT | m.13791C>A | CA414819535 | MT-ND5 | c.1455C>A (p.Tyr485Ter) | |
| MT | m.13791C= | CA2573325482 | MT-ND5 | c.1455C= (p.Tyr485=) | |
| MT | m.13791C>G | CA414819537 | MT-ND5 | c.1455C>G (p.Tyr485Ter) | |
| MT | m.13791C>T | CA913171204 | MT-ND5 | c.1455C>T (p.Tyr485=) | |
| MT | m.13792C>A | CA414819540 | MT-ND5 | c.1456C>A (p.Leu486Ile) | |
| MT | m.13792C= | CA2573325486 | MT-ND5 | c.1456C= (p.Leu486=) | |
| MT | m.13792C>G | CA414819541 | MT-ND5 | c.1456C>G (p.Leu486Val) | |
| MT | m.13792C>T | CA913171205 | MT-ND5 | c.1456C>T (p.Leu486=) | |
| MT | m.13793T>A | CA414819544 | MT-ND5 | c.1457T>A (p.Leu486Gln) | |
| MT | m.13793T>C | CA414819546 | MT-ND5 | c.1457T>C (p.Leu486Pro) | |
| MT | m.13793T>G | CA414819548 | MT-ND5 | c.1457T>G (p.Leu486Arg) | |
| MT | m.13793T= | CA2573325488 | MT-ND5 | c.1457T= (p.Leu486=) | |
| MT | m.13794A= | CA2573325490 | MT-ND5 | c.1458A= (p.Leu486=) | |
| MT | m.13794A>C | CA913171208 | MT-ND5 | c.1458A>C (p.Leu486=) | |
| MT | m.13794A>G | CA913171206 | MT-ND5 | c.1458A>G (p.Leu486=) | dbSNP |
| MT | m.13794A>T | CA913171207 | MT-ND5 | c.1458A>T (p.Leu486=) | |
| MT | m.13795A= | CA2573325496 | MT-ND5 | c.1459A= (p.Lys487=) | |
| MT | m.13795A>C | CA414819550 | MT-ND5 | c.1459A>C (p.Lys487Gln) | |
| MT | m.13795A>G | CA414819552 | MT-ND5 | c.1459A>G (p.Lys487Glu) | |
| MT | m.13795A>T | CA414819554 | MT-ND5 | c.1459A>T (p.Lys487Ter) | |
| MT | m.13796A= | CA2573325500 | MT-ND5 | c.1460A= (p.Lys487=) | |
| MT | m.13796A>C | CA414819556 | MT-ND5 | c.1460A>C (p.Lys487Thr) | |
| MT | m.13796A>G | CA414819558 | MT-ND5 | c.1460A>G (p.Lys487Arg) | |
| MT | m.13796A>T | CA414819560 | MT-ND5 | c.1460A>T (p.Lys487Ile) | |
| MT | m.13797A= | CA2499568170 | MT-ND5 | c.1461A= (p.Lys487=) | |
| MT | m.13797A>C | CA414819563 | MT-ND5 | c.1461A>C (p.Lys487Asn) | |
| MT | m.13797A>G | CA913171209 | MT-ND5 | c.1461A>G (p.Lys487=) | dbSNP |
| MT | m.13797A>T | CA414819561 | MT-ND5 | c.1461A>T (p.Lys487Asn) | |
| MT | m.13798C>A | CA414819566 | MT-ND5 | c.1462C>A (p.Leu488Ile) | |
| MT | m.13798C= | CA2573325508 | MT-ND5 | c.1462C= (p.Leu488=) | |
| MT | m.13798C>G | CA414819567 | MT-ND5 | c.1462C>G (p.Leu488Val) | |
| MT | m.13798C>T | CA414819568 | MT-ND5 | c.1462C>T (p.Leu488Phe) | |
| MT | m.13799T>A | CA414819571 | MT-ND5 | c.1463T>A (p.Leu488His) | |
| MT | m.13799T>C | CA414819573 | MT-ND5 | c.1463T>C (p.Leu488Pro) | dbSNP |
| MT | m.13799T>G | CA414819574 | MT-ND5 | c.1463T>G (p.Leu488Arg) | |
| MT | m.13799T= | CA2499568171 | MT-ND5 | c.1463T= (p.Leu488=) | |
| MT | m.13800C>A | CA913171210 | MT-ND5 | c.1464C>A (p.Leu488=) | dbSNP |
| MT | m.13800C= | CA2499568172 | MT-ND5 | c.1464C= (p.Leu488=) | |
| MT | m.13800C>G | CA913171211 | MT-ND5 | c.1464C>G (p.Leu488=) | |
| MT | m.13800C>T | CA913171212 | MT-ND5 | c.1464C>T (p.Leu488=) | dbSNP |
| MT | m.13801A= | CA2499568173 | MT-ND5 | c.1465A= (p.Thr489=) | |
| MT | m.13801A>C | CA414819577 | MT-ND5 | c.1465A>C (p.Thr489Pro) | |
| MT | m.13801A>G | CA414819578 | MT-ND5 | c.1465A>G (p.Thr489Ala) | ClinVar dbSNP |
| MT | m.13801A>T | CA414819580 | MT-ND5 | c.1465A>T (p.Thr489Ser) | |
| MT | m.13802C>A | CA414819583 | MT-ND5 | c.1466C>A (p.Thr489Lys) | |
| MT | m.13802C= | CA2499568174 | MT-ND5 | c.1466C= (p.Thr489=) | |
| MT | m.13802C>G | CA414819585 | MT-ND5 | c.1466C>G (p.Thr489Arg) | |
| MT | m.13802C>T | CA414819587 | MT-ND5 | c.1466C>T (p.Thr489Ile) | ClinVar dbSNP |
| MT | m.13803A= | CA2499568175 | MT-ND5 | c.1467A= (p.Thr489=) | |
| MT | m.13803A>C | CA337099818 | MT-ND5 | c.1467A>C (p.Thr489=) | dbSNP |
| MT | m.13803A>G | CA337099821 | MT-ND5 | c.1467A>G (p.Thr489=) | dbSNP |
| MT | m.13803A>T | CA337099823 | MT-ND5 | c.1467A>T (p.Thr489=) | |
| MT | m.13804G>A | CA414819593 | MT-ND5 | c.1468G>A (p.Ala490Thr) | dbSNP |
| MT | m.13804G>C | CA414819595 | MT-ND5 | c.1468G>C (p.Ala490Pro) | |
| MT | m.13804G= | CA2499568176 | MT-ND5 | c.1468G= (p.Ala490=) | |
| MT | m.13804G>T | CA414819597 | MT-ND5 | c.1468G>T (p.Ala490Ser) | |
| MT | m.13805C>A | CA414819599 | MT-ND5 | c.1469C>A (p.Ala490Asp) | |
| MT | m.13805C= | CA2573325531 | MT-ND5 | c.1469C= (p.Ala490=) | |
| MT | m.13805C>G | CA414819601 | MT-ND5 | c.1469C>G (p.Ala490Gly) | |
| MT | m.13805C>T | CA414819603 | MT-ND5 | c.1469C>T (p.Ala490Val) | |
| MT | m.13806C>A | CA913171213 | MT-ND5 | c.1470C>A (p.Ala490=) | |
| MT | m.13806C= | CA2499568177 | MT-ND5 | c.1470C= (p.Ala490=) | |
| MT | m.13806C>G | CA913171214 | MT-ND5 | c.1470C>G (p.Ala490=) | |
| MT | m.13806C>T | CA913171215 | MT-ND5 | c.1470C>T (p.Ala490=) | dbSNP |
| MT | m.13807C>A | CA414819605 | MT-ND5 | c.1471C>A (p.Leu491Ile) | |
| MT | m.13807C= | CA2573325537 | MT-ND5 | c.1471C= (p.Leu491=) | |
| MT | m.13807C>G | CA414819607 | MT-ND5 | c.1471C>G (p.Leu491Val) | |
| MT | m.13807C>T | CA414819609 | MT-ND5 | c.1471C>T (p.Leu491Phe) | |
| MT | m.13808T>A | CA414819611 | MT-ND5 | c.1472T>A (p.Leu491His) | |
| MT | m.13808T>C | CA414819613 | MT-ND5 | c.1472T>C (p.Leu491Pro) | |
| MT | m.13808T>G | CA414819615 | MT-ND5 | c.1472T>G (p.Leu491Arg) | |
| MT | m.13808T= | CA2573325542 | MT-ND5 | c.1472T= (p.Leu491=) | |
| MT | m.13809C>A | CA913171216 | MT-ND5 | c.1473C>A (p.Leu491=) | |
| MT | m.13809C= | CA2573325545 | MT-ND5 | c.1473C= (p.Leu491=) | |
| MT | m.13809C>G | CA913171217 | MT-ND5 | c.1473C>G (p.Leu491=) | |
| MT | m.13809C>T | CA913171218 | MT-ND5 | c.1473C>T (p.Leu491=) | |
| MT | m.13810G>A | CA414819617 | MT-ND5 | c.1474G>A (p.Ala492Thr) | ClinVar dbSNP |
| MT | m.13810G>C | CA414819620 | MT-ND5 | c.1474G>C (p.Ala492Pro) | |
| MT | m.13810G= | CA2499568178 | MT-ND5 | c.1474G= (p.Ala492=) | |
| MT | m.13810G>T | CA414819618 | MT-ND5 | c.1474G>T (p.Ala492Ser) | |
| MT | m.13811C>A | CA414819623 | MT-ND5 | c.1475C>A (p.Ala492Asp) | |
| MT | m.13811C= | CA2513220928 | MT-ND5 | c.1475C= (p.Ala492=) | |
| MT | m.13811C>G | CA414819624 | MT-ND5 | c.1475C>G (p.Ala492Gly) | |
| MT | m.13811C>T | CA414819626 | MT-ND5 | c.1475C>T (p.Ala492Val) | |
| MT | m.13812T>A | CA913171219 | MT-ND5 | c.1476T>A (p.Ala492=) | |
| MT | m.13812T>C | CA913171220 | MT-ND5 | c.1476T>C (p.Ala492=) | dbSNP |
| MT | m.13812T>G | CA913171221 | MT-ND5 | c.1476T>G (p.Ala492=) | |
| MT | m.13812T= | CA2499568179 | MT-ND5 | c.1476T= (p.Ala492=) | |
| MT | m.13813G>A | CA414819629 | MT-ND5 | c.1477G>A (p.Val493Ile) | ClinVar dbSNP |
| MT | m.13813G>C | CA414819630 | MT-ND5 | c.1477G>C (p.Val493Leu) | |
| MT | m.13813G= | CA2499568180 | MT-ND5 | c.1477G= (p.Val493=) | |
| MT | m.13813G>T | CA414819632 | MT-ND5 | c.1477G>T (p.Val493Phe) | |
| MT | m.13814T>A | CA414819635 | MT-ND5 | c.1478T>A (p.Val493Asp) | |
| MT | m.13814T>C | CA414819636 | MT-ND5 | c.1478T>C (p.Val493Ala) | dbSNP |
| MT | m.13814T>G | CA414819638 | MT-ND5 | c.1478T>G (p.Val493Gly) | |
| MT | m.13814T= | CA2573325562 | MT-ND5 | c.1478T= (p.Val493=) | |
| MT | m.13815C>A | CA913171222 | MT-ND5 | c.1479C>A (p.Val493=) | |
| MT | m.13815C= | CA2499568181 | MT-ND5 | c.1479C= (p.Val493=) | |
| MT | m.13815C>G | CA913171223 | MT-ND5 | c.1479C>G (p.Val493=) | |
| MT | m.13815C>T | CA913171224 | MT-ND5 | c.1479C>T (p.Val493=) | dbSNP |
| MT | m.13816A= | CA2499568182 | MT-ND5 | c.1480A= (p.Thr494=) | |
| MT | m.13816A>C | CA414819642 | MT-ND5 | c.1480A>C (p.Thr494Pro) | |
| MT | m.13816A>G | CA414819644 | MT-ND5 | c.1480A>G (p.Thr494Ala) | ClinVar dbSNP |
| MT | m.13816A>T | CA414819640 | MT-ND5 | c.1480A>T (p.Thr494Ser) | |
| MT | m.13817C>A | CA414819647 | MT-ND5 | c.1481C>A (p.Thr494Asn) | |
| MT | m.13817C= | CA2573325572 | MT-ND5 | c.1481C= (p.Thr494=) | |
| MT | m.13817C>G | CA414819646 | MT-ND5 | c.1481C>G (p.Thr494Ser) | |
| MT | m.13817C>T | CA414819650 | MT-ND5 | c.1481C>T (p.Thr494Ile) | |
| MT | m.13818T>A | CA913171225 | MT-ND5 | c.1482T>A (p.Thr494=) | dbSNP |
| MT | m.13818T>C | CA913171226 | MT-ND5 | c.1482T>C (p.Thr494=) | dbSNP |
| MT | m.13818T>G | CA913171227 | MT-ND5 | c.1482T>G (p.Thr494=) | |
| MT | m.13818T= | CA2499568183 | MT-ND5 | c.1482T= (p.Thr494=) | |
| MT | m.13819T>A | CA414819652 | MT-ND5 | c.1483T>A (p.Phe495Ile) | |
| MT | m.13819T>C | CA337099825 | MT-ND5 | c.1483T>C (p.Phe495Leu) | ClinVar dbSNP |
| MT | m.13819T>G | CA414819655 | MT-ND5 | c.1483T>G (p.Phe495Val) | |
| MT | m.13819T= | CA2499568184 | MT-ND5 | c.1483T= (p.Phe495=) | |
| MT | m.13820T>A | CA414819657 | MT-ND5 | c.1484T>A (p.Phe495Tyr) | |
| MT | m.13820T>C | CA414819659 | MT-ND5 | c.1484T>C (p.Phe495Ser) | ClinVar dbSNP |
| MT | m.13820T>G | CA414819660 | MT-ND5 | c.1484T>G (p.Phe495Cys) | |
| MT | m.13820T= | CA2499568185 | MT-ND5 | c.1484T= (p.Phe495=) | |
| MT | m.13821C>A | CA414819662 | MT-ND5 | c.1485C>A (p.Phe495Leu) | |
| MT | m.13821C= | CA2499568186 | MT-ND5 | c.1485C= (p.Phe495=) | |
| MT | m.13821C>G | CA414819665 | MT-ND5 | c.1485C>G (p.Phe495Leu) | |
| MT | m.13821C>T | CA337099827 | MT-ND5 | c.1485C>T (p.Phe495=) | dbSNP |
| MT | m.13822C>A | CA414819668 | MT-ND5 | c.1486C>A (p.Leu496Ile) | |
| MT | m.13822C= | CA2573325590 | MT-ND5 | c.1486C= (p.Leu496=) | |
| MT | m.13822C>G | CA414819670 | MT-ND5 | c.1486C>G (p.Leu496Val) | |
| MT | m.13822C>T | CA913171228 | MT-ND5 | c.1486C>T (p.Leu496=) | |
| MT | m.13823T>A | CA414819675 | MT-ND5 | c.1487T>A (p.Leu496Gln) | |
| MT | m.13823T>C | CA414819673 | MT-ND5 | c.1487T>C (p.Leu496Pro) | |
| MT | m.13823T>G | CA414819671 | MT-ND5 | c.1487T>G (p.Leu496Arg) | |
| MT | m.13823T= | CA2573325592 | MT-ND5 | c.1487T= (p.Leu496=) | |
| MT | m.13824A= | CA2499568187 | MT-ND5 | c.1488A= (p.Leu496=) | |
| MT | m.13824A>C | CA913171231 | MT-ND5 | c.1488A>C (p.Leu496=) | |
| MT | m.13824A>G | CA913171230 | MT-ND5 | c.1488A>G (p.Leu496=) | dbSNP |
| MT | m.13824A>T | CA913171229 | MT-ND5 | c.1488A>T (p.Leu496=) | |
| MT | m.13825G>A | CA414819678 | MT-ND5 | c.1489G>A (p.Gly497Arg) | |
| MT | m.13825G>C | CA414819680 | MT-ND5 | c.1489G>C (p.Gly497Arg) | |
| MT | m.13825G= | CA2573325594 | MT-ND5 | c.1489G= (p.Gly497=) | |
| MT | m.13825G>T | CA414819681 | MT-ND5 | c.1489G>T (p.Gly497Ter) | |
| MT | m.13826G>A | CA414819684 | MT-ND5 | c.1490G>A (p.Gly497Glu) | |
| MT | m.13826G>C | CA414819686 | MT-ND5 | c.1490G>C (p.Gly497Ala) | |
| MT | m.13826G= | CA2512990525 | MT-ND5 | c.1490G= (p.Gly497=) | |
| MT | m.13826G>T | CA414819687 | MT-ND5 | c.1490G>T (p.Gly497Val) | |
| MT | m.13827A= | CA2499568188 | MT-ND5 | c.1491A= (p.Gly497=) | |
| MT | m.13827A>C | CA913171232 | MT-ND5 | c.1491A>C (p.Gly497=) | dbSNP |
| MT | m.13827A>G | CA913171233 | MT-ND5 | c.1491A>G (p.Gly497=) | dbSNP |
| MT | m.13827A>T | CA913171234 | MT-ND5 | c.1491A>T (p.Gly497=) | |
| MT | m.13828C>A | CA414819689 | MT-ND5 | c.1492C>A (p.Leu498Ile) | |
| MT | m.13828C= | CA2573325600 | MT-ND5 | c.1492C= (p.Leu498=) | |
| MT | m.13828C>G | CA414819691 | MT-ND5 | c.1492C>G (p.Leu498Val) | |
| MT | m.13828C>T | CA414819693 | MT-ND5 | c.1492C>T (p.Leu498Phe) |