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.8815_13722del | CA645373338 | 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.13510A= | CA2573324608 | MT-ND5 | c.1174A= (p.Lys392=) | |
| MT | m.13510A>C | CA414818307 | MT-ND5 | c.1174A>C (p.Lys392Gln) | |
| MT | m.13510A>G | CA414818309 | MT-ND5 | c.1174A>G (p.Lys392Glu) | |
| MT | m.13510A>T | CA414818306 | MT-ND5 | c.1174A>T (p.Lys392Ter) | |
| MT | m.13511A= | CA2573324611 | MT-ND5 | c.1175A= (p.Lys392=) | |
| MT | m.13511A>C | CA414818312 | MT-ND5 | c.1175A>C (p.Lys392Thr) | |
| MT | m.13511A>G | CA414818316 | MT-ND5 | c.1175A>G (p.Lys392Arg) | |
| MT | m.13511A>T | CA414818314 | MT-ND5 | c.1175A>T (p.Lys392Ile) | |
| MT | m.13512A= | CA2499568033 | MT-ND5 | c.1176A= (p.Lys392=) | |
| MT | m.13512A>C | CA414818318 | MT-ND5 | c.1176A>C (p.Lys392Asn) | |
| MT | m.13512A>G | CA337099714 | MT-ND5 | c.1176A>G (p.Lys392=) | dbSNP |
| MT | m.13512A>T | CA414818319 | MT-ND5 | c.1176A>T (p.Lys392Asn) | |
| MT | m.13513G>A | CA120632 | MT-ND5 | c.1177G>A (p.Asp393Asn) | ClinVar dbSNP |
| MT | m.13513G>C | CA414818324 | MT-ND5 | c.1177G>C (p.Asp393His) | dbSNP |
| MT | m.13513G= | CA2499568034 | MT-ND5 | c.1177G= (p.Asp393=) | |
| MT | m.13513G>T | CA414818326 | MT-ND5 | c.1177G>T (p.Asp393Tyr) | |
| MT | m.13514A= | CA2499568035 | MT-ND5 | c.1178A= (p.Asp393=) | |
| MT | m.13514A>C | CA414818329 | MT-ND5 | c.1178A>C (p.Asp393Ala) | |
| MT | m.13514A>G | CA345918 | MT-ND5 | c.1178A>G (p.Asp393Gly) | ClinVar dbSNP |
| MT | m.13514A>T | CA414818331 | MT-ND5 | c.1178A>T (p.Asp393Val) | |
| MT | m.13515C>A | CA414818332 | MT-ND5 | c.1179C>A (p.Asp393Glu) | |
| MT | m.13515C= | CA2499568036 | MT-ND5 | c.1179C= (p.Asp393=) | |
| MT | m.13515C>G | CA414818333 | MT-ND5 | c.1179C>G (p.Asp393Glu) | |
| MT | m.13515C>T | CA913171017 | MT-ND5 | c.1179C>T (p.Asp393=) | dbSNP |
| MT | m.13516C>A | CA414818334 | MT-ND5 | c.1180C>A (p.His394Asn) | |
| MT | m.13516C= | CA2573324626 | MT-ND5 | c.1180C= (p.His394=) | |
| MT | m.13516C>G | CA414818335 | MT-ND5 | c.1180C>G (p.His394Asp) | |
| MT | m.13516C>T | CA414818336 | MT-ND5 | c.1180C>T (p.His394Tyr) | |
| MT | m.13517A= | CA2573324629 | MT-ND5 | c.1181A= (p.His394=) | |
| MT | m.13517A>C | CA414818339 | MT-ND5 | c.1181A>C (p.His394Pro) | |
| MT | m.13517A>G | CA414818337 | MT-ND5 | c.1181A>G (p.His394Arg) | |
| MT | m.13517A>T | CA414818338 | MT-ND5 | c.1181A>T (p.His394Leu) | |
| MT | m.13518C>A | CA414818341 | MT-ND5 | c.1182C>A (p.His394Gln) | |
| MT | m.13518C= | CA2573324632 | MT-ND5 | c.1182C= (p.His394=) | |
| MT | m.13518C>G | CA414818343 | MT-ND5 | c.1182C>G (p.His394Gln) | |
| MT | m.13518C>T | CA913171018 | MT-ND5 | c.1182C>T (p.His394=) | |
| MT | m.13519A= | CA2573324635 | MT-ND5 | c.1183A= (p.Ile395=) | |
| MT | m.13519A>C | CA414818345 | MT-ND5 | c.1183A>C (p.Ile395Leu) | |
| MT | m.13519A>G | CA414818347 | MT-ND5 | c.1183A>G (p.Ile395Val) | |
| MT | m.13519A>T | CA414818349 | MT-ND5 | c.1183A>T (p.Ile395Phe) | |
| MT | m.13520T>A | CA414818351 | MT-ND5 | c.1184T>A (p.Ile395Asn) | |
| MT | m.13520T>C | CA414818353 | MT-ND5 | c.1184T>C (p.Ile395Thr) | |
| MT | m.13520T>G | CA414818354 | MT-ND5 | c.1184T>G (p.Ile395Ser) | |
| MT | m.13520T= | CA2573324640 | MT-ND5 | c.1184T= (p.Ile395=) | |
| MT | m.13521C>A | CA913171019 | MT-ND5 | c.1185C>A (p.Ile395=) | |
| MT | m.13521C= | CA2499568037 | MT-ND5 | c.1185C= (p.Ile395=) | |
| MT | m.13521C>G | CA414818356 | MT-ND5 | c.1185C>G (p.Ile395Met) | |
| MT | m.13521C>T | CA913171020 | MT-ND5 | c.1185C>T (p.Ile395=) | dbSNP |
| MT | m.13522A= | CA2499568038 | MT-ND5 | c.1186A= (p.Ile396=) | |
| MT | m.13522A>C | CA414818362 | MT-ND5 | c.1186A>C (p.Ile396Leu) | ClinVar dbSNP |
| MT | m.13522A>G | CA414818360 | MT-ND5 | c.1186A>G (p.Ile396Val) | ClinVar dbSNP |
| MT | m.13522A>T | CA414818358 | MT-ND5 | c.1186A>T (p.Ile396Phe) | |
| MT | m.13523T>A | CA414818364 | MT-ND5 | c.1187T>A (p.Ile396Asn) | |
| MT | m.13523T>C | CA414818366 | MT-ND5 | c.1187T>C (p.Ile396Thr) | |
| MT | m.13523T>G | CA414818367 | MT-ND5 | c.1187T>G (p.Ile396Ser) | |
| MT | m.13523T= | CA2573324653 | MT-ND5 | c.1187T= (p.Ile396=) | |
| MT | m.13524C>A | CA913171021 | MT-ND5 | c.1188C>A (p.Ile396=) | ClinVar dbSNP |
| MT | m.13524C= | CA2499568039 | MT-ND5 | c.1188C= (p.Ile396=) | |
| MT | m.13524C>G | CA414818370 | MT-ND5 | c.1188C>G (p.Ile396Met) | |
| MT | m.13524C>T | CA913171022 | MT-ND5 | c.1188C>T (p.Ile396=) | |
| MT | m.13525G>A | CA414818372 | MT-ND5 | c.1189G>A (p.Glu397Lys) | |
| MT | m.13525G>C | CA414818374 | MT-ND5 | c.1189G>C (p.Glu397Gln) | |
| MT | m.13525G= | CA2573324661 | MT-ND5 | c.1189G= (p.Glu397=) | |
| MT | m.13525G>T | CA414818376 | MT-ND5 | c.1189G>T (p.Glu397Ter) | |
| MT | m.13526A= | CA2573324664 | MT-ND5 | c.1190A= (p.Glu397=) | |
| MT | m.13526A>C | CA414818378 | MT-ND5 | c.1190A>C (p.Glu397Ala) | |
| MT | m.13526A>G | CA414818380 | MT-ND5 | c.1190A>G (p.Glu397Gly) | |
| MT | m.13526A>T | CA414818383 | MT-ND5 | c.1190A>T (p.Glu397Val) | |
| MT | m.13527A= | CA2499568040 | MT-ND5 | c.1191A= (p.Glu397=) | |
| MT | m.13527A>C | CA414818384 | MT-ND5 | c.1191A>C (p.Glu397Asp) | |
| MT | m.13527A>G | CA913171023 | MT-ND5 | c.1191A>G (p.Glu397=) | dbSNP |
| MT | m.13527A>T | CA414818386 | MT-ND5 | c.1191A>T (p.Glu397Asp) | |
| MT | m.13528A= | CA2499568041 | MT-ND5 | c.1192A= (p.Thr398=) | |
| MT | m.13528A>C | CA414818389 | MT-ND5 | c.1192A>C (p.Thr398Pro) | |
| MT | m.13528A>G | CA337099716 | MT-ND5 | c.1192A>G (p.Thr398Ala) | ClinVar dbSNP |
| MT | m.13528A>T | CA414818390 | MT-ND5 | c.1192A>T (p.Thr398Ser) | |
| MT | m.13529C>A | CA414818397 | MT-ND5 | c.1193C>A (p.Thr398Asn) | |
| MT | m.13529C= | CA2573324681 | MT-ND5 | c.1193C= (p.Thr398=) | |
| MT | m.13529C>G | CA414818399 | MT-ND5 | c.1193C>G (p.Thr398Ser) | |
| MT | m.13529C>T | CA414818400 | MT-ND5 | c.1193C>T (p.Thr398Ile) | |
| MT | m.13530C>A | CA913171024 | MT-ND5 | c.1194C>A (p.Thr398=) | |
| MT | m.13530C= | CA2499568042 | MT-ND5 | c.1194C= (p.Thr398=) | |
| MT | m.13530C>G | CA913171025 | MT-ND5 | c.1194C>G (p.Thr398=) | |
| MT | m.13530C>T | CA913171026 | MT-ND5 | c.1194C>T (p.Thr398=) | dbSNP |
| MT | m.13531G>A | CA414818402 | MT-ND5 | c.1195G>A (p.Ala399Thr) | COSMIC |
| MT | m.13531G>C | CA414818404 | MT-ND5 | c.1195G>C (p.Ala399Pro) | |
| MT | m.13531G= | CA2573324685 | MT-ND5 | c.1195G= (p.Ala399=) | |
| MT | m.13531G>T | CA414818406 | MT-ND5 | c.1195G>T (p.Ala399Ser) | |
| MT | m.13532C>A | CA414818408 | MT-ND5 | c.1196C>A (p.Ala399Glu) | |
| MT | m.13532C= | CA2573324687 | MT-ND5 | c.1196C= (p.Ala399=) | |
| MT | m.13532C>G | CA414818409 | MT-ND5 | c.1196C>G (p.Ala399Gly) | |
| MT | m.13532C>T | CA414818411 | MT-ND5 | c.1196C>T (p.Ala399Val) | COSMIC |
| MT | m.13533A= | CA2499568043 | MT-ND5 | c.1197A= (p.Ala399=) | |
| MT | m.13533A>C | CA913171027 | MT-ND5 | c.1197A>C (p.Ala399=) | |
| MT | m.13533A>G | CA913171028 | MT-ND5 | c.1197A>G (p.Ala399=) | dbSNP |
| MT | m.13533A>T | CA913171029 | MT-ND5 | c.1197A>T (p.Ala399=) | dbSNP |
| MT | m.13534A= | CA2573324695 | MT-ND5 | c.1198A= (p.Asn400=) | |
| MT | m.13534A>C | CA414818417 | MT-ND5 | c.1198A>C (p.Asn400His) | |
| MT | m.13534A>G | CA414818415 | MT-ND5 | c.1198A>G (p.Asn400Asp) | |
| MT | m.13534A>T | CA414818413 | MT-ND5 | c.1198A>T (p.Asn400Tyr) | |
| MT | m.13535A= | CA2499568044 | MT-ND5 | c.1199A= (p.Asn400=) | |
| MT | m.13535A>C | CA414818419 | MT-ND5 | c.1199A>C (p.Asn400Thr) | |
| MT | m.13535A>G | CA414818423 | MT-ND5 | c.1199A>G (p.Asn400Ser) | ClinVar dbSNP |
| MT | m.13535A>T | CA414818421 | MT-ND5 | c.1199A>T (p.Asn400Ile) | |
| MT | m.13536C>A | CA414818424 | MT-ND5 | c.1200C>A (p.Asn400Lys) | |
| MT | m.13536C= | CA2573324700 | MT-ND5 | c.1200C= (p.Asn400=) | |
| MT | m.13536C>G | CA414818426 | MT-ND5 | c.1200C>G (p.Asn400Lys) | |
| MT | m.13536C>T | CA913171030 | MT-ND5 | c.1200C>T (p.Asn400=) | |
| MT | m.13537A= | CA2573324704 | MT-ND5 | c.1201A= (p.Ile401=) | |
| MT | m.13537A>C | CA414818428 | MT-ND5 | c.1201A>C (p.Ile401Leu) | |
| MT | m.13537A>G | CA414818430 | MT-ND5 | c.1201A>G (p.Ile401Val) | |
| MT | m.13537A>T | CA414818431 | MT-ND5 | c.1201A>T (p.Ile401Leu) | |
| MT | m.13538T>A | CA414818434 | MT-ND5 | c.1202T>A (p.Ile401Lys) | |
| MT | m.13538T>C | CA414818436 | MT-ND5 | c.1202T>C (p.Ile401Thr) | |
| MT | m.13538T>G | CA414818437 | MT-ND5 | c.1202T>G (p.Ile401Arg) | |
| MT | m.13538T= | CA2573324708 | MT-ND5 | c.1202T= (p.Ile401=) | |
| MT | m.13539A= | CA2499568045 | MT-ND5 | c.1203A= (p.Ile401=) | |
| MT | m.13539A>C | CA913171032 | MT-ND5 | c.1203A>C (p.Ile401=) | |
| MT | m.13539A>G | CA414818440 | MT-ND5 | c.1203A>G (p.Ile401Met) | dbSNP |
| MT | m.13539A>T | CA913171031 | MT-ND5 | c.1203A>T (p.Ile401=) | |
| MT | m.13540T>A | CA414818442 | MT-ND5 | c.1204T>A (p.Ser402Thr) | |
| MT | m.13540T>C | CA414818444 | MT-ND5 | c.1204T>C (p.Ser402Pro) | |
| MT | m.13540T>G | CA414818446 | MT-ND5 | c.1204T>G (p.Ser402Ala) | |
| MT | m.13540T= | CA2573324715 | MT-ND5 | c.1204T= (p.Ser402=) | |
| MT | m.13541C>A | CA414818448 | MT-ND5 | c.1205C>A (p.Ser402Ter) | |
| MT | m.13541C= | CA2573324719 | MT-ND5 | c.1205C= (p.Ser402=) | |
| MT | m.13541C>G | CA414818452 | MT-ND5 | c.1205C>G (p.Ser402Ter) | |
| MT | m.13541C>T | CA414818450 | MT-ND5 | c.1205C>T (p.Ser402Leu) | |
| MT | m.13542A= | CA2499568046 | MT-ND5 | c.1206A= (p.Ser402=) | |
| MT | m.13542A>C | CA337099718 | MT-ND5 | c.1206A>C (p.Ser402=) | dbSNP |
| MT | m.13542A>G | CA337099720 | MT-ND5 | c.1206A>G (p.Ser402=) | dbSNP |
| MT | m.13542A>T | CA337099722 | MT-ND5 | c.1206A>T (p.Ser402=) | |
| MT | m.13543T>A | CA414818457 | MT-ND5 | c.1207T>A (p.Tyr403Asn) | |
| MT | m.13543T>C | CA414818458 | MT-ND5 | c.1207T>C (p.Tyr403His) | ClinVar dbSNP |
| MT | m.13543T>G | CA414818460 | MT-ND5 | c.1207T>G (p.Tyr403Asp) | |
| MT | m.13543T= | CA2499568047 | MT-ND5 | c.1207T= (p.Tyr403=) | |
| MT | m.13544A= | CA2573324726 | MT-ND5 | c.1208A= (p.Tyr403=) | |
| MT | m.13544A>C | CA414818462 | MT-ND5 | c.1208A>C (p.Tyr403Ser) | |
| MT | m.13544A>G | CA414818464 | MT-ND5 | c.1208A>G (p.Tyr403Cys) | |
| MT | m.13544A>T | CA414818466 | MT-ND5 | c.1208A>T (p.Tyr403Phe) | |
| MT | m.13545C>A | CA414818470 | MT-ND5 | c.1209C>A (p.Tyr403Ter) | |
| MT | m.13545C= | CA2499568048 | MT-ND5 | c.1209C= (p.Tyr403=) | |
| MT | m.13545C>G | CA414818469 | MT-ND5 | c.1209C>G (p.Tyr403Ter) | |
| MT | m.13545C>T | CA913171033 | MT-ND5 | c.1209C>T (p.Tyr403=) | dbSNP |
| MT | m.13546A= | CA2573324730 | MT-ND5 | c.1210A= (p.Thr404=) | |
| MT | m.13546A>C | CA414818472 | MT-ND5 | c.1210A>C (p.Thr404Pro) | |
| MT | m.13546A>G | CA414818474 | MT-ND5 | c.1210A>G (p.Thr404Ala) | |
| MT | m.13546A>T | CA414818476 | MT-ND5 | c.1210A>T (p.Thr404Ser) | |
| MT | m.13547C>A | CA414818479 | MT-ND5 | c.1211C>A (p.Thr404Lys) | |
| MT | m.13547C= | CA2499568049 | MT-ND5 | c.1211C= (p.Thr404=) | |
| MT | m.13547C>G | CA414818480 | MT-ND5 | c.1211C>G (p.Thr404Arg) | |
| MT | m.13547C>T | CA414818482 | MT-ND5 | c.1211C>T (p.Thr404Ile) | ClinVar dbSNP |
| MT | m.13548A= | CA2573324738 | MT-ND5 | c.1212A= (p.Thr404=) | |
| MT | m.13548A>C | CA913171034 | MT-ND5 | c.1212A>C (p.Thr404=) | |
| MT | m.13548A>G | CA913171035 | MT-ND5 | c.1212A>G (p.Thr404=) | |
| MT | m.13548A>T | CA913171036 | MT-ND5 | c.1212A>T (p.Thr404=) | |
| MT | m.13549A= | CA2573324741 | MT-ND5 | c.1213A= (p.Asn405=) | |
| MT | m.13549A>C | CA414818483 | MT-ND5 | c.1213A>C (p.Asn405His) | |
| MT | m.13549A>G | CA414818485 | MT-ND5 | c.1213A>G (p.Asn405Asp) | |
| MT | m.13549A>T | CA414818487 | MT-ND5 | c.1213A>T (p.Asn405Tyr) | |
| MT | m.13549_13550insT | CA645611419 | MT-ND5 | c.1213_1214insT (p.Asn405IlefsTer19) | COSMIC |
| MT | m.13550A= | CA2573324744 | MT-ND5 | c.1214A= (p.Asn405=) | |
| MT | m.13550A>C | CA414818489 | MT-ND5 | c.1214A>C (p.Asn405Thr) | |
| MT | m.13550A>G | CA414818491 | MT-ND5 | c.1214A>G (p.Asn405Ser) | |
| MT | m.13550A>T | CA414818493 | MT-ND5 | c.1214A>T (p.Asn405Ile) | |
| MT | m.13550_13551insT | CA913171037 | MT-ND5 | c.1214_1215insT (p.Ala406ArgfsTer18) | |
| MT | m.13551C>A | CA414818496 | MT-ND5 | c.1215C>A (p.Asn405Lys) | |
| MT | m.13551C= | CA2499568050 | MT-ND5 | c.1215C= (p.Asn405=) | |
| MT | m.13551C>G | CA414818494 | MT-ND5 | c.1215C>G (p.Asn405Lys) | |
| MT | m.13551C>T | CA913171038 | MT-ND5 | c.1215C>T (p.Asn405=) | dbSNP |
| MT | m.13552G>A | CA414818499 | MT-ND5 | c.1216G>A (p.Ala406Thr) | ClinVar dbSNP |
| MT | m.13552G>C | CA414818501 | MT-ND5 | c.1216G>C (p.Ala406Pro) | |
| MT | m.13552G= | CA2499568051 | MT-ND5 | c.1216G= (p.Ala406=) | |
| MT | m.13552G>T | CA414818503 | MT-ND5 | c.1216G>T (p.Ala406Ser) | |
| MT | m.13553C>A | CA414818505 | MT-ND5 | c.1217C>A (p.Ala406Asp) | |
| MT | m.13553C= | CA2573324753 | MT-ND5 | c.1217C= (p.Ala406=) | |
| MT | m.13553C>G | CA414818506 | MT-ND5 | c.1217C>G (p.Ala406Gly) | |
| MT | m.13553C>T | CA414818509 | MT-ND5 | c.1217C>T (p.Ala406Val) | |
| MT | m.13554C>A | CA913171039 | MT-ND5 | c.1218C>A (p.Ala406=) | |
| MT | m.13554C= | CA2499568052 | MT-ND5 | c.1218C= (p.Ala406=) | |
| MT | m.13554C>G | CA337099724 | MT-ND5 | c.1218C>G (p.Ala406=) | dbSNP |
| MT | m.13554C>T | CA337099726 | MT-ND5 | c.1218C>T (p.Ala406=) | |
| MT | m.13555T>A | CA414818513 | MT-ND5 | c.1219T>A (p.Ter407Arg) | |
| MT | m.13555T>C | CA414818514 | MT-ND5 | c.1219T>C (p.Ter407Arg) | |
| MT | m.13555T>G | CA414818517 | MT-ND5 | c.1219T>G (p.Ter407Gly) | |
| MT | m.13555T= | CA414818518 | MT-ND5 | c.1219T= (p.Ter407=) | |
| MT | m.13556G>A | CA414818527 | MT-ND5 | c.1220G>A (p.Ter407=) | |
| MT | m.13556G>C | CA414818524 | MT-ND5 | c.1220G>C (p.Ter407Ser) | COSMIC |
| MT | m.13556G= | CA414818521 | MT-ND5 | c.1220G= (p.Ter407=) | |
| MT | m.13556G>T | CA414818523 | MT-ND5 | c.1220G>T (p.Ter407Leu) | |
| MT | m.13557A= | CA414818530 | MT-ND5 | c.1221A= (p.Ter407=) | |
| MT | m.13557A>C | CA414818529 | MT-ND5 | c.1221A>C (p.Ter407Cys) | |
| MT | m.13557A>G | CA414818534 | MT-ND5 | c.1221A>G (p.Ter407Trp) | dbSNP |
| MT | m.13557A>T | CA414818533 | MT-ND5 | c.1221A>T (p.Ter407Cys) | |
| MT | m.13558G>A | CA414818536 | MT-ND5 | c.1222G>A (p.Ala408Thr) | |
| MT | m.13558G>C | CA414818539 | MT-ND5 | c.1222G>C (p.Ala408Pro) | |
| MT | m.13558G= | CA2573324761 | MT-ND5 | c.1222G= (p.Ala408=) | |
| MT | m.13558G>T | CA414818540 | MT-ND5 | c.1222G>T (p.Ala408Ser) | |
| MT | m.13559C>A | CA414818543 | MT-ND5 | c.1223C>A (p.Ala408Asp) | |
| MT | m.13559C= | CA2573324763 | MT-ND5 | c.1223C= (p.Ala408=) | |
| MT | m.13559C>G | CA414818544 | MT-ND5 | c.1223C>G (p.Ala408Gly) | |
| MT | m.13559C>T | CA414818546 | MT-ND5 | c.1223C>T (p.Ala408Val) | |
| MT | m.13560C>A | CA913171040 | MT-ND5 | c.1224C>A (p.Ala408=) | |
| MT | m.13560C= | CA2573324764 | MT-ND5 | c.1224C= (p.Ala408=) | |
| MT | m.13560C>G | CA913171041 | MT-ND5 | c.1224C>G (p.Ala408=) | |
| MT | m.13560C>T | CA913171042 | MT-ND5 | c.1224C>T (p.Ala408=) | |
| MT | m.13561C>A | CA414818547 | MT-ND5 | c.1225C>A (p.Leu409Ile) | |
| MT | m.13561C= | CA2573324767 | MT-ND5 | c.1225C= (p.Leu409=) | |
| MT | m.13561C>G | CA414818548 | MT-ND5 | c.1225C>G (p.Leu409Val) | |
| MT | m.13561C>T | CA913171043 | MT-ND5 | c.1225C>T (p.Leu409=) | |
| MT | m.13562T>A | CA414818551 | MT-ND5 | c.1226T>A (p.Leu409Gln) | |
| MT | m.13562T>C | CA414818553 | MT-ND5 | c.1226T>C (p.Leu409Pro) | |
| MT | m.13562T>G | CA414818554 | MT-ND5 | c.1226T>G (p.Leu409Arg) | |
| MT | m.13562T= | CA2573324769 | MT-ND5 | c.1226T= (p.Leu409=) | |
| MT | m.13563A= | CA2499568053 | MT-ND5 | c.1227A= (p.Leu409=) | |
| MT | m.13563A>C | CA337099730 | MT-ND5 | c.1227A>C (p.Leu409=) | |
| MT | m.13563A>G | CA913171044 | MT-ND5 | c.1227A>G (p.Leu409=) | dbSNP |
| MT | m.13563A>T | CA337099728 | MT-ND5 | c.1227A>T (p.Leu409=) | |
| MT | m.13564T>A | CA414818560 | MT-ND5 | c.1228T>A (p.Ser410Thr) | |
| MT | m.13564T>C | CA414818561 | MT-ND5 | c.1228T>C (p.Ser410Pro) | |
| MT | m.13564T>G | CA414818563 | MT-ND5 | c.1228T>G (p.Ser410Ala) | |
| MT | m.13564T= | CA2513636713 | MT-ND5 | c.1228T= (p.Ser410=) | |
| MT | m.13565C>A | CA414818566 | MT-ND5 | c.1229C>A (p.Ser410Tyr) | |
| MT | m.13565C= | CA2499568054 | MT-ND5 | c.1229C= (p.Ser410=) | |
| MT | m.13565C>G | CA414818567 | MT-ND5 | c.1229C>G (p.Ser410Cys) | |
| MT | m.13565C>T | CA337099732 | MT-ND5 | c.1229C>T (p.Ser410Phe) | ClinVar dbSNP |
| MT | m.13566T>A | CA913171046 | MT-ND5 | c.1230T>A (p.Ser410=) | |
| MT | m.13566T>C | CA337099734 | MT-ND5 | c.1230T>C (p.Ser410=) | dbSNP |
| MT | m.13566T>G | CA913171045 | MT-ND5 | c.1230T>G (p.Ser410=) | |
| MT | m.13566T= | CA2499568055 | MT-ND5 | c.1230T= (p.Ser410=) | |
| MT | m.13567_13568del | CA2573105288 | MT-ND5 | c.1231_1232del (p.Ile411TyrfsTer12) | |
| MT | m.13567A= | CA2573324779 | MT-ND5 | c.1231A= (p.Ile411=) | |
| MT | m.13567A>C | CA414818572 | MT-ND5 | c.1231A>C (p.Ile411Leu) | |
| MT | m.13567A>G | CA414818573 | MT-ND5 | c.1231A>G (p.Ile411Val) | |
| MT | m.13567A>T | CA414818575 | MT-ND5 | c.1231A>T (p.Ile411Phe) | |
| MT | m.13568T>A | CA414818579 | MT-ND5 | c.1232T>A (p.Ile411Asn) | |
| MT | m.13568T>C | CA414818578 | MT-ND5 | c.1232T>C (p.Ile411Thr) | ClinVar dbSNP |
| MT | m.13568T>G | CA414818577 | MT-ND5 | c.1232T>G (p.Ile411Ser) | |
| MT | m.13568T= | CA2499568056 | MT-ND5 | c.1232T= (p.Ile411=) | |
| MT | m.13569T>A | CA913171048 | MT-ND5 | c.1233T>A (p.Ile411=) | |
| MT | m.13569T>C | CA913171047 | MT-ND5 | c.1233T>C (p.Ile411=) | dbSNP |
| MT | m.13569T>G | CA414818580 | MT-ND5 | c.1233T>G (p.Ile411Met) | |
| MT | m.13569T= | CA2499568057 | MT-ND5 | c.1233T= (p.Ile411=) | |
| MT | m.13570A= | CA2573324788 | MT-ND5 | c.1234A= (p.Thr412=) | |
| MT | m.13570A>C | CA414818583 | MT-ND5 | c.1234A>C (p.Thr412Pro) | |
| MT | m.13570A>G | CA414818585 | MT-ND5 | c.1234A>G (p.Thr412Ala) | |
| MT | m.13570A>T | CA414818586 | MT-ND5 | c.1234A>T (p.Thr412Ser) | |
| MT | m.13571C>A | CA414818588 | MT-ND5 | c.1235C>A (p.Thr412Asn) | |
| MT | m.13571C= | CA2513291139 | MT-ND5 | c.1235C= (p.Thr412=) | |
| MT | m.13571C>G | CA414818590 | MT-ND5 | c.1235C>G (p.Thr412Ser) | |
| MT | m.13571C>T | CA414818592 | MT-ND5 | c.1235C>T (p.Thr412Ile) | |
| MT | m.13572T>A | CA913171051 | MT-ND5 | c.1236T>A (p.Thr412=) | |
| MT | m.13572T>C | CA913171050 | MT-ND5 | c.1236T>C (p.Thr412=) | dbSNP |
| MT | m.13572T>G | CA913171049 | MT-ND5 | c.1236T>G (p.Thr412=) | |
| MT | m.13572T= | CA2499568058 | MT-ND5 | c.1236T= (p.Thr412=) | |
| MT | m.13573C>A | CA337099736 | MT-ND5 | c.1237C>A (p.Leu413Ile) | dbSNP |
| MT | m.13573C= | CA2499568059 | MT-ND5 | c.1237C= (p.Leu413=) | |
| MT | m.13573C>G | CA414818595 | MT-ND5 | c.1237C>G (p.Leu413Val) | |
| MT | m.13573C>T | CA337099738 | MT-ND5 | c.1237C>T (p.Leu413Phe) | |
| MT | m.13574T>A | CA414818599 | MT-ND5 | c.1238T>A (p.Leu413His) | |
| MT | m.13574T>C | CA414818600 | MT-ND5 | c.1238T>C (p.Leu413Pro) | |
| MT | m.13574T>G | CA414818603 | MT-ND5 | c.1238T>G (p.Leu413Arg) | |
| MT | m.13574T= | CA2513273173 | MT-ND5 | c.1238T= (p.Leu413=) | |
| MT | m.13575C>A | CA913171052 | MT-ND5 | c.1239C>A (p.Leu413=) | |
| MT | m.13575C= | CA2499568060 | MT-ND5 | c.1239C= (p.Leu413=) | |
| MT | m.13575C>G | CA913171053 | MT-ND5 | c.1239C>G (p.Leu413=) | |
| MT | m.13575C>T | CA913171054 | MT-ND5 | c.1239C>T (p.Leu413=) | dbSNP |
| MT | m.13576A= | CA2499568061 | MT-ND5 | c.1240A= (p.Ile414=) | |
| MT | m.13576A>C | CA414818605 | MT-ND5 | c.1240A>C (p.Ile414Leu) | |
| MT | m.13576A>G | CA414818608 | MT-ND5 | c.1240A>G (p.Ile414Val) | ClinVar dbSNP |
| MT | m.13576A>T | CA414818606 | MT-ND5 | c.1240A>T (p.Ile414Phe) | dbSNP |
| MT | m.13577T>A | CA414818611 | MT-ND5 | c.1241T>A (p.Ile414Asn) | |
| MT | m.13577T>C | CA414818612 | MT-ND5 | c.1241T>C (p.Ile414Thr) | dbSNP |
| MT | m.13577T>G | CA414818614 | MT-ND5 | c.1241T>G (p.Ile414Ser) | |
| MT | m.13577T= | CA2499568062 | MT-ND5 | c.1241T= (p.Ile414=) | |
| MT | m.13578C>A | CA913171055 | MT-ND5 | c.1242C>A (p.Ile414=) | |
| MT | m.13578C= | CA2499568063 | MT-ND5 | c.1242C= (p.Ile414=) | |
| MT | m.13578C>G | CA414818617 | MT-ND5 | c.1242C>G (p.Ile414Met) | |
| MT | m.13578C>T | CA913171056 | MT-ND5 | c.1242C>T (p.Ile414=) | dbSNP |
| MT | m.13579G>A | CA414818618 | MT-ND5 | c.1243G>A (p.Ala415Thr) | ClinVar dbSNP |
| MT | m.13579G>C | CA414818620 | MT-ND5 | c.1243G>C (p.Ala415Pro) | |
| MT | m.13579G= | CA2499568064 | MT-ND5 | c.1243G= (p.Ala415=) | |
| MT | m.13579G>T | CA414818622 | MT-ND5 | c.1243G>T (p.Ala415Ser) | |
| MT | m.13580C>A | CA414818624 | MT-ND5 | c.1244C>A (p.Ala415Asp) | |
| MT | m.13580C= | CA2573324806 | MT-ND5 | c.1244C= (p.Ala415=) | |
| MT | m.13580C>G | CA414818625 | MT-ND5 | c.1244C>G (p.Ala415Gly) | |
| MT | m.13580C>T | CA414818627 | MT-ND5 | c.1244C>T (p.Ala415Val) | |
| MT | m.13581T>A | CA913171057 | MT-ND5 | c.1245T>A (p.Ala415=) | |
| MT | m.13581T>C | CA913171058 | MT-ND5 | c.1245T>C (p.Ala415=) | dbSNP |
| MT | m.13581T>G | CA913171059 | MT-ND5 | c.1245T>G (p.Ala415=) | |
| MT | m.13581T= | CA2499568065 | MT-ND5 | c.1245T= (p.Ala415=) | |
| MT | m.13582A= | CA2573324811 | MT-ND5 | c.1246A= (p.Thr416=) | |
| MT | m.13582A>C | CA414818632 | MT-ND5 | c.1246A>C (p.Thr416Pro) | |
| MT | m.13582A>G | CA414818630 | MT-ND5 | c.1246A>G (p.Thr416Ala) | |
| MT | m.13582A>T | CA414818629 | MT-ND5 | c.1246A>T (p.Thr416Ser) | |
| MT | m.13583C>A | CA414818636 | MT-ND5 | c.1247C>A (p.Thr416Asn) | |
| MT | m.13583C= | CA2499568066 | MT-ND5 | c.1247C= (p.Thr416=) | |
| MT | m.13583C>G | CA414818635 | MT-ND5 | c.1247C>G (p.Thr416Ser) | |
| MT | m.13583C>T | CA414818638 | MT-ND5 | c.1247C>T (p.Thr416Ile) | ClinVar dbSNP |
| MT | m.13584C>A | CA913171060 | MT-ND5 | c.1248C>A (p.Thr416=) | |
| MT | m.13584C= | CA2573324818 | MT-ND5 | c.1248C= (p.Thr416=) | |
| MT | m.13584C>G | CA913171061 | MT-ND5 | c.1248C>G (p.Thr416=) | |
| MT | m.13584C>T | CA913171062 | MT-ND5 | c.1248C>T (p.Thr416=) | |
| MT | m.13585T>A | CA414818640 | MT-ND5 | c.1249T>A (p.Ser417Thr) | |
| MT | m.13585T>C | CA414818641 | MT-ND5 | c.1249T>C (p.Ser417Pro) | |
| MT | m.13585T>G | CA414818643 | MT-ND5 | c.1249T>G (p.Ser417Ala) | |
| MT | m.13585T= | CA2573324820 | MT-ND5 | c.1249T= (p.Ser417=) | |
| MT | m.13586C>A | CA414818646 | MT-ND5 | c.1250C>A (p.Ser417Tyr) | |
| MT | m.13586C= | CA2573324822 | MT-ND5 | c.1250C= (p.Ser417=) | |
| MT | m.13586C>G | CA414818647 | MT-ND5 | c.1250C>G (p.Ser417Cys) | |
| MT | m.13586C>T | CA414818649 | MT-ND5 | c.1250C>T (p.Ser417Phe) | |
| MT | m.13587C>A | CA913171063 | MT-ND5 | c.1251C>A (p.Ser417=) | |
| MT | m.13587C= | CA2573324827 | MT-ND5 | c.1251C= (p.Ser417=) | |
| MT | m.13587C>G | CA913171064 | MT-ND5 | c.1251C>G (p.Ser417=) | |
| MT | m.13587C>T | CA913171065 | MT-ND5 | c.1251C>T (p.Ser417=) | |
| MT | m.13588C>A | CA414818652 | MT-ND5 | c.1252C>A (p.Leu418Met) | |
| MT | m.13588C= | CA2573324828 | MT-ND5 | c.1252C= (p.Leu418=) | |
| MT | m.13588C>G | CA414818653 | MT-ND5 | c.1252C>G (p.Leu418Val) | |
| MT | m.13588C>T | CA913171066 | MT-ND5 | c.1252C>T (p.Leu418=) | |
| MT | m.13589T>A | CA414818654 | MT-ND5 | c.1253T>A (p.Leu418Gln) | |
| MT | m.13589T>C | CA414818656 | MT-ND5 | c.1253T>C (p.Leu418Pro) | |
| MT | m.13589T>G | CA414818658 | MT-ND5 | c.1253T>G (p.Leu418Arg) | |
| MT | m.13589T= | CA2573324829 | MT-ND5 | c.1253T= (p.Leu418=) | |
| MT | m.13590G>A | CA337099740 | MT-ND5 | c.1254G>A (p.Leu418=) | dbSNP |
| MT | m.13590G>C | CA337099742 | MT-ND5 | c.1254G>C (p.Leu418=) | |
| MT | m.13590G= | CA2499568067 | MT-ND5 | c.1254G= (p.Leu418=) | |
| MT | m.13590G>T | CA337099744 | MT-ND5 | c.1254G>T (p.Leu418=) | |
| MT | m.13591A= | CA2573324833 | MT-ND5 | c.1255A= (p.Thr419=) | |
| MT | m.13591A>C | CA414818664 | MT-ND5 | c.1255A>C (p.Thr419Pro) | |
| MT | m.13591A>G | CA414818666 | MT-ND5 | c.1255A>G (p.Thr419Ala) | |
| MT | m.13591A>T | CA414818668 | MT-ND5 | c.1255A>T (p.Thr419Ser) | |
| MT | m.13592C>A | CA414818670 | MT-ND5 | c.1256C>A (p.Thr419Lys) | |
| MT | m.13592C= | CA2573324836 | MT-ND5 | c.1256C= (p.Thr419=) | |
| MT | m.13592C>G | CA414818671 | MT-ND5 | c.1256C>G (p.Thr419Arg) | |
| MT | m.13592C>T | CA414818672 | MT-ND5 | c.1256C>T (p.Thr419Ile) | |
| MT | m.13593A= | CA2573324838 | MT-ND5 | c.1257A= (p.Thr419=) | |
| MT | m.13593A>C | CA913171069 | MT-ND5 | c.1257A>C (p.Thr419=) | |
| MT | m.13593A>G | CA913171067 | MT-ND5 | c.1257A>G (p.Thr419=) | |
| MT | m.13593A>T | CA913171068 | MT-ND5 | c.1257A>T (p.Thr419=) | |
| MT | m.13594A= | CA2499568068 | MT-ND5 | c.1258A= (p.Ser420=) | |
| MT | m.13594A>C | CA414818674 | MT-ND5 | c.1258A>C (p.Ser420Arg) | |
| MT | m.13594A>G | CA414818677 | MT-ND5 | c.1258A>G (p.Ser420Gly) | ClinVar dbSNP |
| MT | m.13594A>T | CA414818678 | MT-ND5 | c.1258A>T (p.Ser420Cys) | |
| MT | m.13595G>A | CA414818680 | MT-ND5 | c.1259G>A (p.Ser420Asn) | |
| MT | m.13595G>C | CA414818681 | MT-ND5 | c.1259G>C (p.Ser420Thr) | |
| MT | m.13595G= | CA2573324843 | MT-ND5 | c.1259G= (p.Ser420=) | |
| MT | m.13595G>T | CA414818684 | MT-ND5 | c.1259G>T (p.Ser420Ile) | |
| MT | m.13596C>A | CA414818686 | MT-ND5 | c.1260C>A (p.Ser420Arg) | |
| MT | m.13596C= | CA2499568069 | MT-ND5 | c.1260C= (p.Ser420=) | |
| MT | m.13596C>G | CA414818688 | MT-ND5 | c.1260C>G (p.Ser420Arg) | |
| MT | m.13596C>T | CA913171070 | MT-ND5 | c.1260C>T (p.Ser420=) | dbSNP |
| MT | m.13597G>A | CA414818690 | MT-ND5 | c.1261G>A (p.Ala421Thr) | |
| MT | m.13597G>C | CA414818692 | MT-ND5 | c.1261G>C (p.Ala421Pro) | |
| MT | m.13597G= | CA2573324849 | MT-ND5 | c.1261G= (p.Ala421=) | |
| MT | m.13597G>T | CA414818694 | MT-ND5 | c.1261G>T (p.Ala421Ser) | |
| MT | m.13598C>A | CA414818696 | MT-ND5 | c.1262C>A (p.Ala421Asp) | |
| MT | m.13598C= | CA2573324851 | MT-ND5 | c.1262C= (p.Ala421=) | |
| MT | m.13598C>G | CA414818698 | MT-ND5 | c.1262C>G (p.Ala421Gly) | |
| MT | m.13598C>T | CA414818700 | MT-ND5 | c.1262C>T (p.Ala421Val) | |
| MT | m.13599C>A | CA913171072 | MT-ND5 | c.1263C>A (p.Ala421=) | |
| MT | m.13599C= | CA2499568070 | MT-ND5 | c.1263C= (p.Ala421=) | |
| MT | m.13599C>G | CA913171071 | MT-ND5 | c.1263C>G (p.Ala421=) | |
| MT | m.13599C>T | CA337099746 | MT-ND5 | c.1263C>T (p.Ala421=) | dbSNP |
| MT | m.13600T>A | CA414818703 | MT-ND5 | c.1264T>A (p.Tyr422Asn) | |
| MT | m.13600T>C | CA414818705 | MT-ND5 | c.1264T>C (p.Tyr422His) | |
| MT | m.13600T>G | CA414818707 | MT-ND5 | c.1264T>G (p.Tyr422Asp) | |
| MT | m.13600T= | CA2573324855 | MT-ND5 | c.1264T= (p.Tyr422=) | |
| MT | m.13601A= | CA2573324857 | MT-ND5 | c.1265A= (p.Tyr422=) | |
| MT | m.13601A>C | CA414818709 | MT-ND5 | c.1265A>C (p.Tyr422Ser) | |
| MT | m.13601A>G | CA414818710 | MT-ND5 | c.1265A>G (p.Tyr422Cys) | |
| MT | m.13601A>T | CA414818712 | MT-ND5 | c.1265A>T (p.Tyr422Phe) | |
| MT | m.13602T>A | CA337099750 | MT-ND5 | c.1266T>A (p.Tyr422Ter) | |
| MT | m.13602T>C | CA913171073 | MT-ND5 | c.1266T>C (p.Tyr422=) | dbSNP |
| MT | m.13602T>G | CA337099748 | MT-ND5 | c.1266T>G (p.Tyr422Ter) | |
| MT | m.13602T= | CA2499568071 | MT-ND5 | c.1266T= (p.Tyr422=) | |
| MT | m.13603A= | CA2573324860 | MT-ND5 | c.1267A= (p.Ser423=) | |
| MT | m.13603A>C | CA414818717 | MT-ND5 | c.1267A>C (p.Ser423Arg) | |
| MT | m.13603A>G | CA414818719 | MT-ND5 | c.1267A>G (p.Ser423Gly) | |
| MT | m.13603A>T | CA414818720 | MT-ND5 | c.1267A>T (p.Ser423Cys) | |
| MT | m.13604G>A | CA414818723 | MT-ND5 | c.1268G>A (p.Ser423Asn) | dbSNP |
| MT | m.13604G>C | CA414818724 | MT-ND5 | c.1268G>C (p.Ser423Thr) | dbSNP |
| MT | m.13604G= | CA2499568072 | MT-ND5 | c.1268G= (p.Ser423=) | |
| MT | m.13604G>T | CA414818726 | MT-ND5 | c.1268G>T (p.Ser423Ile) | |
| MT | m.13605C>A | CA414818727 | MT-ND5 | c.1269C>A (p.Ser423Arg) | |
| MT | m.13605C= | CA2499568073 | MT-ND5 | c.1269C= (p.Ser423=) | |
| MT | m.13605C>G | CA414818729 | MT-ND5 | c.1269C>G (p.Ser423Arg) | |
| MT | m.13605C>T | CA913171074 | MT-ND5 | c.1269C>T (p.Ser423=) | dbSNP |
| MT | m.13606A= | CA2499568074 | MT-ND5 | c.1270A= (p.Thr424=) | |
| MT | m.13606A>C | CA414818730 | MT-ND5 | c.1270A>C (p.Thr424Pro) | |
| MT | m.13606A>G | CA414818733 | MT-ND5 | c.1270A>G (p.Thr424Ala) | ClinVar dbSNP |
| MT | m.13606A>T | CA414818734 | MT-ND5 | c.1270A>T (p.Thr424Ser) | |
| MT | m.13607C>A | CA414818741 | MT-ND5 | c.1271C>A (p.Thr424Asn) | |
| MT | m.13607C= | CA2573324866 | MT-ND5 | c.1271C= (p.Thr424=) | |
| MT | m.13607C>G | CA414818738 | MT-ND5 | c.1271C>G (p.Thr424Ser) | |
| MT | m.13607C>T | CA414818736 | MT-ND5 | c.1271C>T (p.Thr424Ile) | |
| MT | m.13608T>A | CA913171075 | MT-ND5 | c.1272T>A (p.Thr424=) | |
| MT | m.13608T>C | CA913171076 | MT-ND5 | c.1272T>C (p.Thr424=) | |
| MT | m.13608T>G | CA913171077 | MT-ND5 | c.1272T>G (p.Thr424=) | |
| MT | m.13608T= | CA2573324868 | MT-ND5 | c.1272T= (p.Thr424=) | |
| MT | m.13609C>A | CA913171078 | MT-ND5 | c.1273C>A (p.Arg425=) | |
| MT | m.13609C= | CA2499568075 | MT-ND5 | c.1273C= (p.Arg425=) | |
| MT | m.13609C>G | CA337099752 | MT-ND5 | c.1273C>G (p.Arg425Gly) | dbSNP |
| MT | m.13609C>T | CA414818744 | MT-ND5 | c.1273C>T (p.Arg425Ter) | |
| MT | m.13610G>A | CA414818746 | MT-ND5 | c.1274G>A (p.Arg425Gln) | |
| MT | m.13610G>C | CA414818747 | MT-ND5 | c.1274G>C (p.Arg425Pro) | |
| MT | m.13610G= | CA2573324874 | MT-ND5 | c.1274G= (p.Arg425=) | |
| MT | m.13610G>T | CA414818750 | MT-ND5 | c.1274G>T (p.Arg425Leu) |