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.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8485G>A | CA337097902 | MT-ATP8 | c.120G>A (p.Lys40=) | dbSNP |
| MT | m.8485G>C | CA414796299 | MT-ATP8 | c.120G>C (p.Lys40Asn) | |
| MT | m.8485G= | CA2499565694 | MT-ATP8 | c.120G= (p.Lys40=) | |
| MT | m.8485G>T | CA414796301 | MT-ATP8 | c.120G>T (p.Lys40Asn) | dbSNP |
| MT | m.8486C>A | CA414796304 | MT-ATP8 | c.121C>A (p.Pro41Thr) | |
| MT | m.8486C= | CA2499565695 | MT-ATP8 | c.121C= (p.Pro41=) | |
| MT | m.8486C>G | CA414796305 | MT-ATP8 | c.121C>G (p.Pro41Ala) | |
| MT | m.8486C>T | CA414796307 | MT-ATP8 | c.121C>T (p.Pro41Ser) | dbSNP |
| MT | m.8487C>A | CA414796310 | MT-ATP8 | c.122C>A (p.Pro41His) | |
| MT | m.8487C= | CA2573329627 | MT-ATP8 | c.122C= (p.Pro41=) | |
| MT | m.8487C>G | CA414796311 | MT-ATP8 | c.122C>G (p.Pro41Arg) | |
| MT | m.8487C>T | CA414796312 | MT-ATP8 | c.122C>T (p.Pro41Leu) | |
| MT | m.8488C>A | CA913179290 | MT-ATP8 | c.123C>A (p.Pro41=) | |
| MT | m.8488C= | CA2499565696 | MT-ATP8 | c.123C= (p.Pro41=) | |
| MT | m.8488C>G | CA913179289 | MT-ATP8 | c.123C>G (p.Pro41=) | dbSNP |
| MT | m.8488C>T | CA913179288 | MT-ATP8 | c.123C>T (p.Pro41=) | dbSNP |
| MT | m.8489A= | CA2499565697 | MT-ATP8 | c.124A= (p.Ile42=) | |
| MT | m.8489A>C | CA414796318 | MT-ATP8 | c.124A>C (p.Ile42Leu) | |
| MT | m.8489A>G | CA414796317 | MT-ATP8 | c.124A>G (p.Ile42Val) | ClinVar dbSNP |
| MT | m.8489A>T | CA414796315 | MT-ATP8 | c.124A>T (p.Ile42Leu) | |
| MT | m.8490T>A | CA414796321 | MT-ATP8 | c.125T>A (p.Ile42Lys) | |
| MT | m.8490T>C | CA414796323 | MT-ATP8 | c.125T>C (p.Ile42Thr) | ClinVar dbSNP |
| MT | m.8490T>G | CA414796324 | MT-ATP8 | c.125T>G (p.Ile42Arg) | |
| MT | m.8490T= | CA2499565698 | MT-ATP8 | c.125T= (p.Ile42=) | |
| MT | m.8491A= | CA2573329635 | MT-ATP8 | c.126A= (p.Ile42=) | |
| MT | m.8491A>C | CA913179295 | MT-ATP8 | c.126A>C (p.Ile42=) | |
| MT | m.8491A>G | CA414796327 | MT-ATP8 | c.126A>G (p.Ile42Met) | |
| MT | m.8491A>T | CA913179294 | MT-ATP8 | c.126A>T (p.Ile42=) | |
| MT | m.8495dup | CA2740098132 | MT-ATP8 | c.130dup (p.Ile44AsnfsTer5) | |
| MT | m.8495del | CA2573105004 | MT-ATP8 | c.130del (p.Ile44Ter) | |
| MT | m.8492A= | CA2499565699 | MT-ATP8 | c.127A= (p.Lys43=) | |
| MT | m.8492A>C | CA414796329 | MT-ATP8 | c.127A>C (p.Lys43Gln) | |
| MT | m.8492A>G | CA414796333 | MT-ATP8 | c.127A>G (p.Lys43Glu) | dbSNP |
| MT | m.8492A>T | CA414796335 | MT-ATP8 | c.127A>T (p.Lys43Ter) | |
| MT | m.8493A= | CA2573329638 | MT-ATP8 | c.128A= (p.Lys43=) | |
| MT | m.8493A>C | CA414796337 | MT-ATP8 | c.128A>C (p.Lys43Thr) | |
| MT | m.8493A>G | CA414796339 | MT-ATP8 | c.128A>G (p.Lys43Arg) | |
| MT | m.8493A>T | CA414796341 | MT-ATP8 | c.128A>T (p.Lys43Ile) | |
| MT | m.8494A= | CA2499565700 | MT-ATP8 | c.129A= (p.Lys43=) | |
| MT | m.8494A>C | CA414796343 | MT-ATP8 | c.129A>C (p.Lys43Asn) | |
| MT | m.8494A>G | CA913179297 | MT-ATP8 | c.129A>G (p.Lys43=) | dbSNP |
| MT | m.8494A>T | CA414796345 | MT-ATP8 | c.129A>T (p.Lys43Asn) | |
| MT | m.8495A= | CA2573329639 | MT-ATP8 | c.130A= (p.Ile44=) | |
| MT | m.8495A>C | CA414796351 | MT-ATP8 | c.130A>C (p.Ile44Leu) | |
| MT | m.8495A>G | CA414796348 | MT-ATP8 | c.130A>G (p.Ile44Val) | |
| MT | m.8495A>T | CA414796349 | MT-ATP8 | c.130A>T (p.Ile44Leu) | |
| MT | m.8496T>A | CA414796354 | MT-ATP8 | c.131T>A (p.Ile44Lys) | |
| MT | m.8496T>C | CA414796355 | MT-ATP8 | c.131T>C (p.Ile44Thr) | ClinVar dbSNP |
| MT | m.8496T>G | CA414796357 | MT-ATP8 | c.131T>G (p.Ile44Arg) | |
| MT | m.8496T= | CA2499565701 | MT-ATP8 | c.131T= (p.Ile44=) | |
| MT | m.8497A= | CA2499565702 | MT-ATP8 | c.132A= (p.Ile44=) | |
| MT | m.8497A>C | CA913179302 | MT-ATP8 | c.132A>C (p.Ile44=) | |
| MT | m.8497A>G | CA414796359 | MT-ATP8 | c.132A>G (p.Ile44Met) | dbSNP |
| MT | m.8497A>T | CA913179301 | MT-ATP8 | c.132A>T (p.Ile44=) | |
| MT | m.8502del | CA2573105005 | MT-ATP8 | c.137del (p.Asn46IlefsTer?) | |
| MT | m.8500_8502del | CA2573105006 | MT-ATP8 | c.135_137del (p.Lys45del) | |
| MT | m.8498A= | CA2573329645 | MT-ATP8 | c.133A= (p.Lys45=) | |
| MT | m.8498A>C | CA414796362 | MT-ATP8 | c.133A>C (p.Lys45Gln) | |
| MT | m.8498A>G | CA414796364 | MT-ATP8 | c.133A>G (p.Lys45Glu) | |
| MT | m.8498A>T | CA414796366 | MT-ATP8 | c.133A>T (p.Lys45Ter) | |
| MT | m.8499A= | CA2573329648 | MT-ATP8 | c.134A= (p.Lys45=) | |
| MT | m.8499A>C | CA414796368 | MT-ATP8 | c.134A>C (p.Lys45Thr) | |
| MT | m.8499A>G | CA414796370 | MT-ATP8 | c.134A>G (p.Lys45Arg) | |
| MT | m.8499A>T | CA414796372 | MT-ATP8 | c.134A>T (p.Lys45Ile) | |
| MT | m.8500A= | CA2573329651 | MT-ATP8 | c.135A= (p.Lys45=) | |
| MT | m.8500A>C | CA414796373 | MT-ATP8 | c.135A>C (p.Lys45Asn) | |
| MT | m.8500A>G | CA913179309 | MT-ATP8 | c.135A>G (p.Lys45=) | |
| MT | m.8500A>T | CA414796375 | MT-ATP8 | c.135A>T (p.Lys45Asn) | |
| MT | m.8501A= | CA2499565703 | MT-ATP8 | c.136A= (p.Asn46=) | |
| MT | m.8501A>C | CA414796379 | MT-ATP8 | c.136A>C (p.Asn46His) | |
| MT | m.8501A>G | CA414796381 | MT-ATP8 | c.136A>G (p.Asn46Asp) | dbSNP |
| MT | m.8501A>T | CA414796377 | MT-ATP8 | c.136A>T (p.Asn46Tyr) | dbSNP |
| MT | m.8502A= | CA2499565704 | MT-ATP8 | c.137A= (p.Asn46=) | |
| MT | m.8502A>C | CA414796383 | MT-ATP8 | c.137A>C (p.Asn46Thr) | |
| MT | m.8502A>G | CA337097903 | MT-ATP8 | c.137A>G (p.Asn46Ser) | ClinVar dbSNP |
| MT | m.8502A>T | CA414796385 | MT-ATP8 | c.137A>T (p.Asn46Ile) | ClinVar dbSNP |
| MT | m.8504_8506del | CA2573105007 | MT-ATP8 | c.139_141del (p.Tyr47del) | |
| MT | m.8503T>A | CA414796387 | MT-ATP8 | c.138T>A (p.Asn46Lys) | |
| MT | m.8503T>C | CA913179314 | MT-ATP8 | c.138T>C (p.Asn46=) | dbSNP |
| MT | m.8503T>G | CA414796388 | MT-ATP8 | c.138T>G (p.Asn46Lys) | |
| MT | m.8503T= | CA2499565705 | MT-ATP8 | c.138T= (p.Asn46=) | |
| MT | m.8503_8504del | CA2573105008 | MT-ATP8 | c.138_139del (p.Asn46LysfsTer2) | |
| MT | m.8504T>A | CA414796391 | MT-ATP8 | c.139T>A (p.Tyr47Asn) | |
| MT | m.8504T>C | CA414796394 | MT-ATP8 | c.139T>C (p.Tyr47His) | ClinVar dbSNP |
| MT | m.8504T>G | CA414796393 | MT-ATP8 | c.139T>G (p.Tyr47Asp) | |
| MT | m.8504T= | CA2499565706 | MT-ATP8 | c.139T= (p.Tyr47=) | |
| MT | m.8505A= | CA2573329667 | MT-ATP8 | c.140A= (p.Tyr47=) | |
| MT | m.8505A>C | CA414796397 | MT-ATP8 | c.140A>C (p.Tyr47Ser) | |
| MT | m.8505A>G | CA414796401 | MT-ATP8 | c.140A>G (p.Tyr47Cys) | |
| MT | m.8505A>T | CA414796399 | MT-ATP8 | c.140A>T (p.Tyr47Phe) | |
| MT | m.8506T>A | CA414796402 | MT-ATP8 | c.141T>A (p.Tyr47Ter) | |
| MT | m.8506T>C | CA913179322 | MT-ATP8 | c.141T>C (p.Tyr47=) | dbSNP |
| MT | m.8506T>G | CA414796404 | MT-ATP8 | c.141T>G (p.Tyr47Ter) | |
| MT | m.8506T= | CA2499565707 | MT-ATP8 | c.141T= (p.Tyr47=) | |
| MT | m.8507A= | CA2499565708 | MT-ATP8 | c.142A= (p.Asn48=) | |
| MT | m.8507A>C | CA414796406 | MT-ATP8 | c.142A>C (p.Asn48His) | |
| MT | m.8507A>G | CA414796407 | MT-ATP8 | c.142A>G (p.Asn48Asp) | ClinVar dbSNP |
| MT | m.8507A>T | CA414796410 | MT-ATP8 | c.142A>T (p.Asn48Tyr) | |
| MT | m.8508A= | CA2499565709 | MT-ATP8 | c.143A= (p.Asn48=) | |
| MT | m.8508A>C | CA414796412 | MT-ATP8 | c.143A>C (p.Asn48Thr) | |
| MT | m.8508A>G | CA414796414 | MT-ATP8 | c.143A>G (p.Asn48Ser) | ClinVar dbSNP |
| MT | m.8508A>T | CA414796416 | MT-ATP8 | c.143A>T (p.Asn48Ile) | |
| MT | m.8509_8510del | CA2573105009 | MT-ATP8 | c.144_145del (p.Asn48LysfsTer?) | |
| MT | m.8509C>A | CA414796418 | MT-ATP8 | c.144C>A (p.Asn48Lys) | |
| MT | m.8509C= | CA2499565710 | MT-ATP8 | c.144C= (p.Asn48=) | |
| MT | m.8509C>G | CA414796420 | MT-ATP8 | c.144C>G (p.Asn48Lys) | |
| MT | m.8509C>T | CA913179326 | MT-ATP8 | c.144C>T (p.Asn48=) | dbSNP |
| MT | m.8510A= | CA2573329676 | MT-ATP8 | c.145A= (p.Lys49=) | |
| MT | m.8510A>C | CA414796422 | MT-ATP8 | c.145A>C (p.Lys49Gln) | |
| MT | m.8510A>G | CA414796426 | MT-ATP8 | c.145A>G (p.Lys49Glu) | |
| MT | m.8510A>T | CA414796424 | MT-ATP8 | c.145A>T (p.Lys49Ter) | |
| MT | m.8511A= | CA2573329677 | MT-ATP8 | c.146A= (p.Lys49=) | |
| MT | m.8511A>C | CA414796428 | MT-ATP8 | c.146A>C (p.Lys49Thr) | |
| MT | m.8511A>G | CA414796430 | MT-ATP8 | c.146A>G (p.Lys49Arg) | |
| MT | m.8511A>T | CA414796432 | MT-ATP8 | c.146A>T (p.Lys49Ile) | |
| MT | m.8512A= | CA2499565711 | MT-ATP8 | c.147A= (p.Lys49=) | |
| MT | m.8512A>C | CA414796434 | MT-ATP8 | c.147A>C (p.Lys49Asn) | |
| MT | m.8512A>G | CA913179333 | MT-ATP8 | c.147A>G (p.Lys49=) | dbSNP |
| MT | m.8512A>T | CA414796436 | MT-ATP8 | c.147A>T (p.Lys49Asn) | |
| MT | m.8513C>A | CA414796438 | MT-ATP8 | c.148C>A (p.Pro50Thr) | dbSNP |
| MT | m.8513C= | CA2499565712 | MT-ATP8 | c.148C= (p.Pro50=) | |
| MT | m.8513C>G | CA414796440 | MT-ATP8 | c.148C>G (p.Pro50Ala) | |
| MT | m.8513C>T | CA414796442 | MT-ATP8 | c.148C>T (p.Pro50Ser) | |
| MT | m.8513_8517del | CA2573105010 | MT-ATP8 | c.148_152del (p.Pro50ArgfsTer?) | |
| MT | m.8514C>A | CA414796446 | MT-ATP8 | c.149C>A (p.Pro50His) | |
| MT | m.8514C= | CA2499565713 | MT-ATP8 | c.149C= (p.Pro50=) | |
| MT | m.8514C>G | CA414796448 | MT-ATP8 | c.149C>G (p.Pro50Arg) | |
| MT | m.8514C>T | CA414796444 | MT-ATP8 | c.149C>T (p.Pro50Leu) | ClinVar dbSNP |
| MT | m.8515C>A | CA913179338 | MT-ATP8 | c.150C>A (p.Pro50=) | |
| MT | m.8515C= | CA2499565714 | MT-ATP8 | c.150C= (p.Pro50=) | |
| MT | m.8515C>G | CA913179337 | MT-ATP8 | c.150C>G (p.Pro50=) | |
| MT | m.8515C>T | CA913179336 | MT-ATP8 | c.150C>T (p.Pro50=) | dbSNP |
| MT | m.8516T>A | CA414796450 | MT-ATP8 | c.151T>A (p.Ter51Arg) | |
| MT | m.8516T>C | CA337097904 | MT-ATP8 | c.151T>C (p.Ter51Arg) | ClinVar dbSNP |
| MT | m.8516T>G | CA414796453 | MT-ATP8 | c.151T>G (p.Ter51Gly) | |
| MT | m.8516T= | CA414796455 | MT-ATP8 | c.151T= (p.Ter51=) | |
| MT | m.8517G>A | CA414796457 | MT-ATP8 | c.152G>A (p.Ter51=) | dbSNP |
| MT | m.8517G>C | CA414796459 | MT-ATP8 | c.152G>C (p.Ter51Ser) | |
| MT | m.8517G= | CA414796460 | MT-ATP8 | c.152G= (p.Ter51=) | |
| MT | m.8517G>T | CA414796462 | MT-ATP8 | c.152G>T (p.Ter51Leu) | |
| MT | m.8519_8520del | CA2739234035 | MT-ATP8 | c.154_155del (p.Glu52ThrfsTer?) | dbSNP |
| MT | m.8518A= | CA414796465 | MT-ATP8 | c.153A= (p.Ter51=) | |
| MT | m.8518A>C | CA414796466 | MT-ATP8 | c.153A>C (p.Ter51Cys) | |
| MT | m.8518A>G | CA414796468 | MT-ATP8 | c.153A>G (p.Ter51Trp) | dbSNP |
| MT | m.8518A>T | CA414796470 | MT-ATP8 | c.153A>T (p.Ter51Cys) | |
| MT | m.8519G>A | CA10581395 | MT-ATP8 | c.154G>A (p.Glu52Lys) | ClinVar dbSNP |
| MT | m.8519G>C | CA414796474 | MT-ATP8 | c.154G>C (p.Glu52Gln) | |
| MT | m.8519G= | CA2499565715 | MT-ATP8 | c.154G= (p.Glu52=) | |
| MT | m.8519G>T | CA414796472 | MT-ATP8 | c.154G>T (p.Glu52Ter) | |
| MT | m.8520A= | CA2499565716 | MT-ATP8 | c.155A= (p.Glu52=) | |
| MT | m.8520A>C | CA414796477 | MT-ATP8 | c.155A>C (p.Glu52Ala) | |
| MT | m.8520A>G | CA414796478 | MT-ATP8 | c.155A>G (p.Glu52Gly) | ClinVar dbSNP |
| MT | m.8520A>T | CA414796480 | MT-ATP8 | c.155A>T (p.Glu52Val) | |
| MT | m.8521A= | CA2499565717 | MT-ATP8 | c.156A= (p.Glu52=) | |
| MT | m.8521A>C | CA337097905 | MT-ATP8 | c.156A>C (p.Glu52Asp) | |
| MT | m.8521A>G | CA913179343 | MT-ATP8 | c.156A>G (p.Glu52=) | dbSNP |
| MT | m.8521A>T | CA337097907 | MT-ATP8 | c.156A>T (p.Glu52Asp) | |
| MT | m.8522C>A | CA414796485 | MT-ATP8 | c.157C>A (p.Pro53Thr) | |
| MT | m.8522C= | CA2499565718 | MT-ATP8 | c.157C= (p.Pro53=) | |
| MT | m.8522C>G | CA414796487 | MT-ATP8 | c.157C>G (p.Pro53Ala) | |
| MT | m.8522C>T | CA414796488 | MT-ATP8 | c.157C>T (p.Pro53Ser) | ClinVar dbSNP |
| MT | m.8523C>A | CA414796491 | MT-ATP8 | c.158C>A (p.Pro53Gln) | |
| MT | m.8523C= | CA2573329703 | MT-ATP8 | c.158C= (p.Pro53=) | |
| MT | m.8523C>G | CA414796493 | MT-ATP8 | c.158C>G (p.Pro53Arg) | |
| MT | m.8523C>T | CA414796494 | MT-ATP8 | c.158C>T (p.Pro53Leu) | dbSNP |
| MT | m.8524A= | CA2573329705 | MT-ATP8 | c.159A= (p.Pro53=) | |
| MT | m.8524A>C | CA913179349 | MT-ATP8 | c.159A>C (p.Pro53=) | |
| MT | m.8524A>G | CA913179348 | MT-ATP8 | c.159A>G (p.Pro53=) | |
| MT | m.8524A>T | CA913179347 | MT-ATP8 | c.159A>T (p.Pro53=) | |
| MT | m.8525A= | CA2499565719 | MT-ATP8 | c.160A= (p.Lys54=) | |
| MT | m.8525A>C | CA414796500 | MT-ATP8 | c.160A>C (p.Lys54Gln) | |
| MT | m.8525A>G | CA414796499 | MT-ATP8 | c.160A>G (p.Lys54Glu) | dbSNP |
| MT | m.8525A>T | CA414796497 | MT-ATP8 | c.160A>T (p.Lys54Ter) | |
| MT | m.8526A= | CA2573329709 | MT-ATP8 | c.161A= (p.Lys54=) | |
| MT | m.8526A>C | CA414796504 | MT-ATP8 | c.161A>C (p.Lys54Thr) | |
| MT | m.8526A>G | CA414796503 | MT-ATP8 | c.161A>G (p.Lys54Arg) | |
| MT | m.8526A>T | CA414796506 | MT-ATP8 | c.161A>T (p.Lys54Ile) | |
| MT | m.8527A= | CA2499565720 | MT-ATP6,MT-ATP8 | c.162A= (p.Lys54=) c.1A= (p.Met1=) | |
| MT | m.8527A>C | CA414796509 | MT-ATP6,MT-ATP8 | c.162A>C (p.Lys54Asn) c.1A>C (p.Met1Leu) | |
| MT | m.8527A>G | CA10581268 | MT-ATP6,MT-ATP8 | c.162A>G (p.Lys54=) c.1A>G (p.Met1Val) | ClinVar dbSNP |
| MT | m.8527A>T | CA414796511 | MT-ATP6,MT-ATP8 | c.162A>T (p.Lys54Asn) c.1A>T (p.Met1Leu) | |
| MT | m.8528T>A | CA414796514 | MT-ATP6,MT-ATP8 | c.163T>A (p.Ter55Arg) c.2T>A (p.Met1Lys) | |
| MT | m.8528T>C | CA120595 | MT-ATP6,MT-ATP8 | c.163T>C (p.Ter55Arg) c.2T>C (p.Met1Thr) | ClinVar dbSNP |
| MT | m.8528T>G | CA414796516 | MT-ATP6,MT-ATP8 | c.163T>G (p.Ter55Gly) c.2T>G (p.Met1Arg) | |
| MT | m.8528T= | CA414796517 | MT-ATP6,MT-ATP8 | c.163T= (p.Ter55=) c.2T= (p.Met1=) | |
| MT | m.8529G>A | CA120593 | MT-ATP6,MT-ATP8 | c.164G>A (p.Ter55=) c.3G>A (p.Met1Ile) | ClinVar dbSNP |
| MT | m.8529G>C | CA414796520 | MT-ATP6,MT-ATP8 | c.164G>C (p.Ter55Ser) c.3G>C (p.Met1Ile) | |
| MT | m.8529G= | CA414796522 | MT-ATP6,MT-ATP8 | c.164G= (p.Ter55=) c.3G= (p.Met1=) | |
| MT | m.8529G>T | CA414796523 | MT-ATP6,MT-ATP8 | c.164G>T (p.Ter55Leu) c.3G>T (p.Met1Ile) | |
| MT | m.8530A= | CA414796529 | MT-ATP6,MT-ATP8 | c.165A= (p.Ter55=) c.4A= (p.Asn2=) | |
| MT | m.8530A>C | CA414796524 | MT-ATP6,MT-ATP8 | c.165A>C (p.Ter55Cys) c.4A>C (p.Asn2His) | |
| MT | m.8530A>G | CA414796527 | MT-ATP6,MT-ATP8 | c.165A>G (p.Ter55Trp) c.4A>G (p.Asn2Asp) | ClinVar dbSNP |
| MT | m.8530A>T | CA414796525 | MT-ATP6,MT-ATP8 | c.165A>T (p.Ter55Cys) c.4A>T (p.Asn2Tyr) | |
| MT | m.8531A= | CA913179357 | MT-ATP6,MT-ATP8 | c.166A= (p.Thr56=) c.5A= (p.Asn2=) | |
| MT | m.8531A>C | CA414796531 | MT-ATP6,MT-ATP8 | c.166A>C (p.Thr56Pro) c.5A>C (p.Asn2Thr) | |
| MT | m.8531A>G | CA414796533 | MT-ATP6,MT-ATP8 | c.166A>G (p.Thr56Ala) c.5A>G (p.Asn2Ser) | ClinVar dbSNP |
| MT | m.8531A>T | CA414796535 | MT-ATP6,MT-ATP8 | c.166A>T (p.Thr56Ser) c.5A>T (p.Asn2Ile) | |
| MT | m.8532C>A | CA414796537 | MT-ATP6,MT-ATP8 | c.167C>A (p.Thr56Lys) c.6C>A (p.Asn2Lys) | |
| MT | m.8532C= | CA2499565721 | MT-ATP6,MT-ATP8 | c.167C= (p.Thr56=) c.6C= (p.Asn2=) | |
| MT | m.8532C>G | CA414796539 | MT-ATP6,MT-ATP8 | c.167C>G (p.Thr56Arg) c.6C>G (p.Asn2Lys) | |
| MT | m.8532C>T | CA414796541 | MT-ATP6,MT-ATP8 | c.167C>T (p.Thr56Met) c.6C>T (p.Asn2=) | dbSNP |
| MT | m.8533G>A | CA337097912 | MT-ATP6,MT-ATP8 | c.168G>A (p.Thr56=) c.7G>A (p.Glu3Lys) | ClinVar dbSNP |
| MT | m.8533G>C | CA414796544 | MT-ATP6,MT-ATP8 | c.168G>C (p.Thr56=) c.7G>C (p.Glu3Gln) | |
| MT | m.8533G= | CA2499565722 | MT-ATP6,MT-ATP8 | c.168G= (p.Thr56=) c.7G= (p.Glu3=) | |
| MT | m.8533G>T | CA414796547 | MT-ATP6,MT-ATP8 | c.168G>T (p.Thr56=) c.7G>T (p.Glu3Ter) | |
| MT | m.8534A= | CA2573329730 | MT-ATP6,MT-ATP8 | c.169A= (p.Lys57=) c.8A= (p.Glu3=) | |
| MT | m.8534A>C | CA414796552 | MT-ATP6,MT-ATP8 | c.169A>C (p.Lys57Gln) c.8A>C (p.Glu3Ala) | |
| MT | m.8534A>G | CA414796551 | MT-ATP6,MT-ATP8 | c.169A>G (p.Lys57Glu) c.8A>G (p.Glu3Gly) | |
| MT | m.8534A>T | CA414796549 | MT-ATP6,MT-ATP8 | c.169A>T (p.Lys57Ter) c.8A>T (p.Glu3Val) | |
| MT | m.8535A= | CA2573329732 | MT-ATP6,MT-ATP8 | c.170A= (p.Lys57=) c.9A= (p.Glu3=) | |
| MT | m.8535A>C | CA414796554 | MT-ATP6,MT-ATP8 | c.170A>C (p.Lys57Thr) c.9A>C (p.Glu3Asp) | |
| MT | m.8535A>G | CA414796556 | MT-ATP6,MT-ATP8 | c.170A>G (p.Lys57Arg) c.9A>G (p.Glu3=) | |
| MT | m.8535A>T | CA414796558 | MT-ATP6,MT-ATP8 | c.170A>T (p.Lys57Ile) c.9A>T (p.Glu3Asp) | |
| MT | m.8536A= | CA2573329735 | MT-ATP6,MT-ATP8 | c.171A= (p.Lys57=) c.10A= (p.Asn4=) | |
| MT | m.8536A>C | CA414796560 | MT-ATP6,MT-ATP8 | c.171A>C (p.Lys57Asn) c.10A>C (p.Asn4His) | |
| MT | m.8536A>G | CA414796561 | MT-ATP6,MT-ATP8 | c.171A>G (p.Lys57=) c.10A>G (p.Asn4Asp) | |
| MT | m.8536A>T | CA414796563 | MT-ATP6,MT-ATP8 | c.171A>T (p.Lys57Asn) c.10A>T (p.Asn4Tyr) | |
| MT | m.8537A= | CA2499565723 | MT-ATP6,MT-ATP8 | c.172A= (p.Ile58=) c.11A= (p.Asn4=) | |
| MT | m.8537A>C | CA414796565 | MT-ATP6,MT-ATP8 | c.172A>C (p.Ile58Leu) c.11A>C (p.Asn4Thr) | |
| MT | m.8537A>G | CA414796566 | MT-ATP6,MT-ATP8 | c.172A>G (p.Ile58Val) c.11A>G (p.Asn4Ser) | ClinVar dbSNP |
| MT | m.8537A>T | CA414796567 | MT-ATP6,MT-ATP8 | c.172A>T (p.Ile58Phe) c.11A>T (p.Asn4Ile) | |
| MT | m.8537_8538insCCAACGC | CA2740098134 | MT-ATP6,MT-ATP8 | c.172_173insCCAACGC (p.Ile58ThrfsTer?) c.11_12insCCAACGC (p.Leu5GlnfsTer?) | |
| MT | m.8538T>A | CA414796568 | MT-ATP6,MT-ATP8 | c.173T>A (p.Ile58Asn) c.12T>A (p.Asn4Lys) | |
| MT | m.8538T>C | CA10581276 | MT-ATP6,MT-ATP8 | c.173T>C (p.Ile58Thr) c.12T>C (p.Asn4=) | ClinVar dbSNP |
| MT | m.8538T>G | CA414796570 | MT-ATP6,MT-ATP8 | c.173T>G (p.Ile58Ser) c.12T>G (p.Asn4Lys) | |
| MT | m.8538T= | CA2499565724 | MT-ATP6,MT-ATP8 | c.173T= (p.Ile58=) c.12T= (p.Asn4=) | |
| MT | m.8539C>A | CA414796573 | MT-ATP6,MT-ATP8 | c.174C>A (p.Ile58=) c.13C>A (p.Leu5Met) | |
| MT | m.8539C= | CA2573329741 | MT-ATP6,MT-ATP8 | c.174C= (p.Ile58=) c.13C= (p.Leu5=) | |
| MT | m.8539C>G | CA414796572 | MT-ATP6,MT-ATP8 | c.174C>G (p.Ile58Met) c.13C>G (p.Leu5Val) | |
| MT | m.8539C>T | CA645611397 | MT-ATP6,MT-ATP8 | c.174C>T (p.Ile58=) c.13C>T (p.Leu5=) | COSMIC COSMIC |
| MT | m.8540T>A | CA414796575 | MT-ATP6,MT-ATP8 | c.175T>A (p.Cys59Ser) c.14T>A (p.Leu5Gln) | |
| MT | m.8540T>C | CA10581248 | MT-ATP6,MT-ATP8 | c.175T>C (p.Cys59Arg) c.14T>C (p.Leu5Pro) | ClinVar dbSNP |
| MT | m.8540T>G | CA414796578 | MT-ATP6,MT-ATP8 | c.175T>G (p.Cys59Gly) c.14T>G (p.Leu5Arg) | |
| MT | m.8540T= | CA2499565725 | MT-ATP6,MT-ATP8 | c.175T= (p.Cys59=) c.14T= (p.Leu5=) | |
| MT | m.8541G>A | CA414796580 | MT-ATP6,MT-ATP8 | c.176G>A (p.Cys59Tyr) c.15G>A (p.Leu5=) | ClinVar dbSNP |
| MT | m.8541G>C | CA414796582 | MT-ATP6,MT-ATP8 | c.176G>C (p.Cys59Ser) c.15G>C (p.Leu5=) | |
| MT | m.8541G= | CA2499565726 | MT-ATP6,MT-ATP8 | c.176G= (p.Cys59=) c.15G= (p.Leu5=) | |
| MT | m.8541G>T | CA414796584 | MT-ATP6,MT-ATP8 | c.176G>T (p.Cys59Phe) c.15G>T (p.Leu5=) | |
| MT | m.8542T>A | CA414796586 | MT-ATP6,MT-ATP8 | c.177T>A (p.Cys59Ter) c.16T>A (p.Phe6Ile) | |
| MT | m.8542T>C | CA414796588 | MT-ATP6,MT-ATP8 | c.177T>C (p.Cys59=) c.16T>C (p.Phe6Leu) | ClinVar dbSNP |
| MT | m.8542T>G | CA414796589 | MT-ATP6,MT-ATP8 | c.177T>G (p.Cys59Trp) c.16T>G (p.Phe6Val) | |
| MT | m.8542T= | CA2499565727 | MT-ATP6,MT-ATP8 | c.177T= (p.Cys59=) c.16T= (p.Phe6=) | |
| MT | m.8543T>A | CA414796592 | MT-ATP6,MT-ATP8 | c.178T>A (p.Ser60Thr) c.17T>A (p.Phe6Tyr) | |
| MT | m.8543T>C | CA414796594 | MT-ATP6,MT-ATP8 | c.178T>C (p.Ser60Pro) c.17T>C (p.Phe6Ser) | dbSNP |
| MT | m.8543T>G | CA414796596 | MT-ATP6,MT-ATP8 | c.178T>G (p.Ser60Ala) c.17T>G (p.Phe6Cys) | |
| MT | m.8543T= | CA2499565728 | MT-ATP6,MT-ATP8 | c.178T= (p.Ser60=) c.17T= (p.Phe6=) | |
| MT | m.8544C>A | CA414796601 | MT-ATP6,MT-ATP8 | c.179C>A (p.Ser60Ter) c.18C>A (p.Phe6Leu) | |
| MT | m.8544C= | CA2573329751 | MT-ATP6,MT-ATP8 | c.179C= (p.Ser60=) c.18C= (p.Phe6=) | |
| MT | m.8544C>G | CA414796603 | MT-ATP6,MT-ATP8 | c.179C>G (p.Ser60Trp) c.18C>G (p.Phe6Leu) | |
| MT | m.8544C>T | CA414796599 | MT-ATP6,MT-ATP8 | c.179C>T (p.Ser60Leu) c.18C>T (p.Phe6=) | |
| MT | m.8545G>A | CA414796605 | MT-ATP6,MT-ATP8 | c.180G>A (p.Ser60=) c.19G>A (p.Ala7Thr) | ClinVar dbSNP |
| MT | m.8545G>C | CA414796609 | MT-ATP6,MT-ATP8 | c.180G>C (p.Ser60=) c.19G>C (p.Ala7Pro) | |
| MT | m.8545G= | CA2499565729 | MT-ATP6,MT-ATP8 | c.180G= (p.Ser60=) c.19G= (p.Ala7=) | |
| MT | m.8545G>T | CA414796607 | MT-ATP6,MT-ATP8 | c.180G>T (p.Ser60=) c.19G>T (p.Ala7Ser) | |
| MT | m.8546C>A | CA414796612 | MT-ATP6,MT-ATP8 | c.181C>A (p.Leu61Ile) c.20C>A (p.Ala7Asp) | |
| MT | m.8546C= | CA2573329756 | MT-ATP6,MT-ATP8 | c.181C= (p.Leu61=) c.20C= (p.Ala7=) | |
| MT | m.8546C>G | CA414796616 | MT-ATP6,MT-ATP8 | c.181C>G (p.Leu61Val) c.20C>G (p.Ala7Gly) | |
| MT | m.8546C>T | CA414796614 | MT-ATP6,MT-ATP8 | c.181C>T (p.Leu61Phe) c.20C>T (p.Ala7Val) | |
| MT | m.8547T>A | CA414796618 | MT-ATP6,MT-ATP8 | c.182T>A (p.Leu61His) c.21T>A (p.Ala7=) | |
| MT | m.8547T>C | CA414796619 | MT-ATP6,MT-ATP8 | c.182T>C (p.Leu61Pro) c.21T>C (p.Ala7=) | ClinVar dbSNP |
| MT | m.8547T>G | CA414796622 | MT-ATP6,MT-ATP8 | c.182T>G (p.Leu61Arg) c.21T>G (p.Ala7=) | |
| MT | m.8547T= | CA2499565730 | MT-ATP6,MT-ATP8 | c.182T= (p.Leu61=) c.21T= (p.Ala7=) | |
| MT | m.8548T>A | CA414796623 | MT-ATP6,MT-ATP8 | c.183T>A (p.Leu61=) c.22T>A (p.Ser8Thr) | |
| MT | m.8548T>C | CA414796626 | MT-ATP6,MT-ATP8 | c.183T>C (p.Leu61=) c.22T>C (p.Ser8Pro) | ClinVar dbSNP |
| MT | m.8548T>G | CA414796628 | MT-ATP6,MT-ATP8 | c.183T>G (p.Leu61=) c.22T>G (p.Ser8Ala) | |
| MT | m.8548T= | CA2499565731 | MT-ATP6,MT-ATP8 | c.183T= (p.Leu61=) c.22T= (p.Ser8=) | |
| MT | m.8549C>A | CA414796630 | MT-ATP6,MT-ATP8 | c.184C>A (p.His62Asn) c.23C>A (p.Ser8Ter) | |
| MT | m.8549C= | CA2573329763 | MT-ATP6,MT-ATP8 | c.184C= (p.His62=) c.23C= (p.Ser8=) | |
| MT | m.8549C>G | CA414796632 | MT-ATP6,MT-ATP8 | c.184C>G (p.His62Asp) c.23C>G (p.Ser8Ter) | |
| MT | m.8549C>T | CA414796634 | MT-ATP6,MT-ATP8 | c.184C>T (p.His62Tyr) c.23C>T (p.Ser8Leu) | dbSNP |
| MT | m.8550A= | CA2499565732 | MT-ATP6,MT-ATP8 | c.185A= (p.His62=) c.24A= (p.Ser8=) | |
| MT | m.8550A>C | CA414796639 | MT-ATP6,MT-ATP8 | c.185A>C (p.His62Pro) c.24A>C (p.Ser8=) | |
| MT | m.8550A>G | CA414796637 | MT-ATP6,MT-ATP8 | c.185A>G (p.His62Arg) c.24A>G (p.Ser8=) | ClinVar dbSNP |
| MT | m.8550A>T | CA414796636 | MT-ATP6,MT-ATP8 | c.185A>T (p.His62Leu) c.24A>T (p.Ser8=) | |
| MT | m.8551T>A | CA414796641 | MT-ATP6,MT-ATP8 | c.186T>A (p.His62Gln) c.25T>A (p.Phe9Ile) | |
| MT | m.8551T>C | CA414796643 | MT-ATP6,MT-ATP8 | c.186T>C (p.His62=) c.25T>C (p.Phe9Leu) | ClinVar dbSNP |
| MT | m.8551T>G | CA414796645 | MT-ATP6,MT-ATP8 | c.186T>G (p.His62Gln) c.25T>G (p.Phe9Val) | |
| MT | m.8551T= | CA2499565733 | MT-ATP6,MT-ATP8 | c.186T= (p.His62=) c.25T= (p.Phe9=) | |
| MT | m.8552T>A | CA414796647 | MT-ATP6,MT-ATP8 | c.187T>A (p.Ser63Thr) c.26T>A (p.Phe9Tyr) | |
| MT | m.8552T>C | CA414796648 | MT-ATP6,MT-ATP8 | c.187T>C (p.Ser63Pro) c.26T>C (p.Phe9Ser) | ClinVar dbSNP |
| MT | m.8552T>G | CA414796652 | MT-ATP6,MT-ATP8 | c.187T>G (p.Ser63Ala) c.26T>G (p.Phe9Cys) | |
| MT | m.8552T= | CA2499565734 | MT-ATP6,MT-ATP8 | c.187T= (p.Ser63=) c.26T= (p.Phe9=) | |
| MT | m.8552_8553insTTGGTTCT | CA2573105011 | MT-ATP6,MT-ATP8 | c.187_188insTTGGTTCT (p.Ser63PhefsTer?) c.26_27insTTGGTTCT (p.Ile10TrpfsTer9) | |
| MT | m.8553C>A | CA414796655 | MT-ATP6,MT-ATP8 | c.188C>A (p.Ser63Ter) c.27C>A (p.Phe9Leu) | |
| MT | m.8553C= | CA2499565735 | MT-ATP6,MT-ATP8 | c.188C= (p.Ser63=) c.27C= (p.Phe9=) | |
| MT | m.8553C>G | CA414796659 | MT-ATP6,MT-ATP8 | c.188C>G (p.Ser63Ter) c.27C>G (p.Phe9Leu) | |
| MT | m.8553C>T | CA414796661 | MT-ATP6,MT-ATP8 | c.188C>T (p.Ser63Leu) c.27C>T (p.Phe9=) | ClinVar dbSNP |
| MT | m.8554A= | CA2499565736 | MT-ATP6,MT-ATP8 | c.189A= (p.Ser63=) c.28A= (p.Ile10=) | |
| MT | m.8554A>C | CA414796667 | MT-ATP6,MT-ATP8 | c.189A>C (p.Ser63=) c.28A>C (p.Ile10Leu) | |
| MT | m.8554A>G | CA414796665 | MT-ATP6,MT-ATP8 | c.189A>G (p.Ser63=) c.28A>G (p.Ile10Val) | ClinVar dbSNP |
| MT | m.8554A>T | CA414796664 | MT-ATP6,MT-ATP8 | c.189A>T (p.Ser63=) c.28A>T (p.Ile10Phe) | |
| MT | m.8554_8555insGGG | CA2573105012 | MT-ATP6,MT-ATP8 | c.189_190insGGG (p.Ser63_Leu64insGly) c.28_29insGGG (p.Ile10delinsArgVal) | |
| MT | m.8555T>A | CA414796669 | MT-ATP6,MT-ATP8 | c.190T>A (p.Leu64Met) c.29T>A (p.Ile10Asn) | |
| MT | m.8555T>C | CA414796671 | MT-ATP6,MT-ATP8 | c.190T>C (p.Leu64=) c.29T>C (p.Ile10Thr) | dbSNP |
| MT | m.8555T>G | CA414796673 | MT-ATP6,MT-ATP8 | c.190T>G (p.Leu64Val) c.29T>G (p.Ile10Ser) | |
| MT | m.8555T= | CA2499565737 | MT-ATP6,MT-ATP8 | c.190T= (p.Leu64=) c.29T= (p.Ile10=) | |
| MT | m.8556T>A | CA414796674 | MT-ATP6,MT-ATP8 | c.191T>A (p.Leu64Ter) c.30T>A (p.Ile10=) | |
| MT | m.8556T>C | CA414796676 | MT-ATP6,MT-ATP8 | c.191T>C (p.Leu64Ser) c.30T>C (p.Ile10=) | |
| MT | m.8556T>G | CA414796677 | MT-ATP6,MT-ATP8 | c.191T>G (p.Leu64Trp) c.30T>G (p.Ile10Met) | |
| MT | m.8556T= | CA2573329777 | MT-ATP6,MT-ATP8 | c.191T= (p.Leu64=) c.30T= (p.Ile10=) | |
| MT | m.8556_8557insTGTTATAATTTTTTATTTTTATGGGCTTTGGTGAGGGAGGTAGGTGGTAGTTTGTGTTTAATATTTTTAGTTGGGTGATGAGGAATAGTGTAAGGAGTATG | CA2573105013 | MT-ATP6,MT-ATP8 | c.191_192insTGTTATAATTTTTTATTTTTATGGGCTTTGGTGAGGGAGGTAGGTGGTAGTTTGTGTTTAATATTTTTAGTTGGGTGATGAGGAATAGTGTAAGGAGTATG (p.Leu64PhefsTer12) c.30_31insTGTTATAATTTTTTATTTTTATGGGCTTTGGTGAGGGAGGTAGGTGGTAGTTTGTGTTTAATATTTTTAGTTGGGTGATGAGGAATAGTGTAAGGAGTATG (p.Ala11CysfsTer26) | |
| MT | m.8557G>A | CA414796680 | MT-ATP6,MT-ATP8 | c.192G>A (p.Leu64=) c.31G>A (p.Ala11Thr) | ClinVar dbSNP |
| MT | m.8557G>C | CA337097920 | MT-ATP6,MT-ATP8 | c.192G>C (p.Leu64Phe) c.31G>C (p.Ala11Pro) | ClinVar dbSNP |
| MT | m.8557G= | CA2499565738 | MT-ATP6,MT-ATP8 | c.192G= (p.Leu64=) c.31G= (p.Ala11=) | |
| MT | m.8557G>T | CA337097917 | MT-ATP6,MT-ATP8 | c.192G>T (p.Leu64Phe) c.31G>T (p.Ala11Ser) | |
| MT | m.8558C>A | CA414796684 | MT-ATP6,MT-ATP8 | c.193C>A (p.Pro65Thr) c.32C>A (p.Ala11Asp) | |
| MT | m.8558C= | CA2499565739 | MT-ATP6,MT-ATP8 | c.193C= (p.Pro65=) c.32C= (p.Ala11=) | |
| MT | m.8558C>G | CA414796686 | MT-ATP6,MT-ATP8 | c.193C>G (p.Pro65Ala) c.32C>G (p.Ala11Gly) | |
| MT | m.8558C>T | CA414796687 | MT-ATP6,MT-ATP8 | c.193C>T (p.Pro65Ser) c.32C>T (p.Ala11Val) | dbSNP |
| MT | m.8562dup | CA2740098135 | MT-ATP6,MT-ATP8 | c.197dup (p.Gln67ThrfsTer?) c.36dup (p.Thr13HisfsTer?) | |
| MT | m.8559C>A | CA414796692 | MT-ATP6,MT-ATP8 | c.194C>A (p.Pro65His) c.33C>A (p.Ala11=) | |
| MT | m.8559C= | CA2573329782 | MT-ATP6,MT-ATP8 | c.194C= (p.Pro65=) c.33C= (p.Ala11=) | |
| MT | m.8559C>G | CA414796696 | MT-ATP6,MT-ATP8 | c.194C>G (p.Pro65Arg) c.33C>G (p.Ala11=) | |
| MT | m.8559C>T | CA414796694 | MT-ATP6,MT-ATP8 | c.194C>T (p.Pro65Leu) c.33C>T (p.Ala11=) | |
| MT | m.8560C>A | CA414796697 | MT-ATP6,MT-ATP8 | c.195C>A (p.Pro65=) c.34C>A (p.Pro12Thr) | |
| MT | m.8560C= | CA2499565740 | MT-ATP6,MT-ATP8 | c.195C= (p.Pro65=) c.34C= (p.Pro12=) | |
| MT | m.8560C>G | CA414796698 | MT-ATP6,MT-ATP8 | c.195C>G (p.Pro65=) c.34C>G (p.Pro12Ala) | |
| MT | m.8560C>T | CA414796699 | MT-ATP6,MT-ATP8 | c.195C>T (p.Pro65=) c.34C>T (p.Pro12Ser) | |
| MT | m.8561C>A | CA414796700 | MT-ATP6,MT-ATP8 | c.196C>A (p.Pro66Thr) c.35C>A (p.Pro12His) | |
| MT | m.8561C= | CA2573329789 | MT-ATP6,MT-ATP8 | c.196C= (p.Pro66=) c.35C= (p.Pro12=) | |
| MT | m.8561C>G | CA414796701 | MT-ATP6,MT-ATP8 | c.196C>G (p.Pro66Ala) c.35C>G (p.Pro12Arg) | |
| MT | m.8561C>T | CA414796702 | MT-ATP6,MT-ATP8 | c.196C>T (p.Pro66Ser) c.35C>T (p.Pro12Leu) | |
| MT | m.8562_8564dup | CA913190826 | MT-ATP6,MT-ATP8 | c.197_199dup (p.Pro66_Gln67insPro) c.36_38dup (p.Thr13_Ile14insThr) | ClinVar dbSNP |
| MT | m.8562C>A | CA414796704 | MT-ATP6,MT-ATP8 | c.197C>A (p.Pro66Gln) c.36C>A (p.Pro12=) | |
| MT | m.8562C= | CA2499565741 | MT-ATP6,MT-ATP8 | c.197C= (p.Pro66=) c.36C= (p.Pro12=) | |
| MT | m.8562C>G | CA414796706 | MT-ATP6,MT-ATP8 | c.197C>G (p.Pro66Arg) c.36C>G (p.Pro12=) | |
| MT | m.8562C>T | CA414796708 | MT-ATP6,MT-ATP8 | c.197C>T (p.Pro66Leu) c.36C>T (p.Pro12=) | ClinVar dbSNP |
| MT | m.8563A= | CA2499565742 | MT-ATP6,MT-ATP8 | c.198A= (p.Pro66=) c.37A= (p.Thr13=) | |
| MT | m.8563A>C | CA337097921 | MT-ATP6,MT-ATP8 | c.198A>C (p.Pro66=) c.37A>C (p.Thr13Pro) | |
| MT | m.8563A>G | CA414796712 | MT-ATP6,MT-ATP8 | c.198A>G (p.Pro66=) c.37A>G (p.Thr13Ala) | ClinVar dbSNP |
| MT | m.8563A>T | CA337097923 | MT-ATP6,MT-ATP8 | c.198A>T (p.Pro66=) c.37A>T (p.Thr13Ser) | |
| MT | m.8564C>A | CA414796719 | MT-ATP6,MT-ATP8 | c.199C>A (p.Gln67Lys) c.38C>A (p.Thr13Lys) | |
| MT | m.8564C= | CA2573329795 | MT-ATP6,MT-ATP8 | c.199C= (p.Gln67=) c.38C= (p.Thr13=) | |
| MT | m.8564C>G | CA414796715 | MT-ATP6,MT-ATP8 | c.199C>G (p.Gln67Glu) c.38C>G (p.Thr13Arg) | |
| MT | m.8564C>T | CA414796717 | MT-ATP6,MT-ATP8 | c.199C>T (p.Gln67Ter) c.38C>T (p.Thr13Ile) | |
| MT | m.8564dup | CA2573105014 | MT-ATP6,MT-ATP8 | c.199dup (p.Gln67ProfsTer?) c.38dup (p.Ile14AsnfsTer?) | |
| MT | m.8564_8565insT | CA2573105015 | MT-ATP6,MT-ATP8 | c.199_200insT (p.Gln67LeufsTer?) c.38_39insT (p.Ile14AsnfsTer?) | |
| MT | m.8565A= | CA2499565743 | MT-ATP6,MT-ATP8 | c.200A= (p.Gln67=) c.39A= (p.Thr13=) | |
| MT | m.8565A>C | CA414796721 | MT-ATP6,MT-ATP8 | c.200A>C (p.Gln67Pro) c.39A>C (p.Thr13=) | |
| MT | m.8565A>G | CA10581330 | MT-ATP6,MT-ATP8 | c.200A>G (p.Gln67Arg) c.39A>G (p.Thr13=) | ClinVar dbSNP |
| MT | m.8565A>T | CA414796724 | MT-ATP6,MT-ATP8 | c.200A>T (p.Gln67Leu) c.39A>T (p.Thr13=) | |
| MT | m.8566A= | CA2499565744 | MT-ATP6,MT-ATP8 | c.201A= (p.Gln67=) c.40A= (p.Ile14=) | |
| MT | m.8566A>C | CA414796725 | MT-ATP6,MT-ATP8 | c.201A>C (p.Gln67His) c.40A>C (p.Ile14Leu) | |
| MT | m.8566A>G | CA337097927 | MT-ATP6,MT-ATP8 | c.201A>G (p.Gln67=) c.40A>G (p.Ile14Val) | ClinVar dbSNP |
| MT | m.8566A>T | CA414796728 | MT-ATP6,MT-ATP8 | c.201A>T (p.Gln67His) c.40A>T (p.Ile14Phe) | |
| MT | m.8567T>A | CA414796730 | MT-ATP6,MT-ATP8 | c.202T>A (p.Ser68Thr) c.41T>A (p.Ile14Asn) | |
| MT | m.8567T>C | CA414796731 | MT-ATP6,MT-ATP8 | c.202T>C (p.Ser68Pro) c.41T>C (p.Ile14Thr) | ClinVar dbSNP |
| MT | m.8567T>G | CA414796734 | MT-ATP6,MT-ATP8 | c.202T>G (p.Ser68Ala) c.41T>G (p.Ile14Ser) | |
| MT | m.8567T= | CA2499565745 | MT-ATP6,MT-ATP8 | c.202T= (p.Ser68=) c.41T= (p.Ile14=) | |
| MT | m.8568C>A | CA414796741 | MT-ATP6,MT-ATP8 | c.203C>A (p.Ser68Tyr) c.42C>A (p.Ile14=) | ClinVar dbSNP |
| MT | m.8568C= | CA2499565746 | MT-ATP6,MT-ATP8 | c.203C= (p.Ser68=) c.42C= (p.Ile14=) | |
| MT | m.8568C>G | CA414796738 | MT-ATP6,MT-ATP8 | c.203C>G (p.Ser68Cys) c.42C>G (p.Ile14Met) | |
| MT | m.8568C>T | CA414796736 | MT-ATP6,MT-ATP8 | c.203C>T (p.Ser68Phe) c.42C>T (p.Ile14=) | ClinVar dbSNP |
| MT | m.8569C>A | CA414796743 | MT-ATP6,MT-ATP8 | c.204C>A (p.Ser68=) c.43C>A (p.Leu15Ile) | |
| MT | m.8569C= | CA2499565747 | MT-ATP6,MT-ATP8 | c.204C= (p.Ser68=) c.43C= (p.Leu15=) | |
| MT | m.8569C>G | CA414796745 | MT-ATP6,MT-ATP8 | c.204C>G (p.Ser68=) c.43C>G (p.Leu15Val) | |
| MT | m.8569C>T | CA913179405 | MT-ATP6,MT-ATP8 | c.204C>T (p.Ser68=) c.43C>T (p.Leu15=) | dbSNP |
| MT | m.8570T>A | CA414796747 | MT-ATP6,MT-ATP8 | c.205T>A (p.Ter69Lys) c.44T>A (p.Leu15Gln) | |
| MT | m.8570T>C | CA414796749 | MT-ATP6,MT-ATP8 | c.205T>C (p.Ter69Gln) c.44T>C (p.Leu15Pro) | dbSNP |
| MT | m.8570T>G | CA414796751 | MT-ATP6,MT-ATP8 | c.205T>G (p.Ter69Glu) c.44T>G (p.Leu15Arg) | |
| MT | m.8570T= | CA2499565748 | MT-ATP6,MT-ATP8 | c.205T= (p.Ter69=) c.44T= (p.Leu15=) | |
| MT | m.8570_8577del | CA2573105016 | MT-ATP6 | c.44_51del (p.Leu15ProfsTer?) | |
| MT | m.8571A= | CA2513268569 | MT-ATP6,MT-ATP8 | c.206A= (p.Ter69=) c.45A= (p.Leu15=) | |
| MT | m.8571A>C | CA414796753 | MT-ATP6,MT-ATP8 | c.206A>C (p.Ter69Ser) c.45A>C (p.Leu15=) | |
| MT | m.8571A>G | CA414796755 | MT-ATP6,MT-ATP8 | c.206A>G (p.Ter69Trp) c.45A>G (p.Leu15=) | |
| MT | m.8571A>T | CA414796756 | MT-ATP6,MT-ATP8 | c.206A>T (p.Ter69Leu) c.45A>T (p.Leu15=) | |
| MT | m.8572G>A | CA337097930 | MT-ATP6,MT-ATP8 | c.207G>A (p.Ter69=) c.46G>A (p.Gly16Ser) | ClinVar dbSNP |
| MT | m.8572G>C | CA414796757 | MT-ATP6,MT-ATP8 | c.207G>C (p.Ter69Tyr) c.46G>C (p.Gly16Arg) | |
| MT | m.8572G= | CA2499565749 | MT-ATP6,MT-ATP8 | c.207G= (p.Ter69=) c.46G= (p.Gly16=) | |
| MT | m.8572G>T | CA414796759 | MT-ATP6,MT-ATP8 | c.207G>T (p.Ter69Tyr) c.46G>T (p.Gly16Cys) | |
| MT | m.8573G>A | CA414796767 | MT-ATP6 | c.47G>A (p.Gly16Asp) | ClinVar dbSNP |
| MT | m.8573G>C | CA414796765 | MT-ATP6 | c.47G>C (p.Gly16Ala) | |
| MT | m.8573G= | CA2499565750 | MT-ATP6 | c.47G= (p.Gly16=) | |
| MT | m.8573G>T | CA414796763 | MT-ATP6 | c.47G>T (p.Gly16Val) | |
| MT | m.8574C>A | CA913179412 | MT-ATP6 | c.48C>A (p.Gly16=) | |
| MT | m.8574C= | CA2499565751 | MT-ATP6 | c.48C= (p.Gly16=) | |
| MT | m.8574C>G | CA913179411 | MT-ATP6 | c.48C>G (p.Gly16=) | |
| MT | m.8574C>T | CA913179410 | MT-ATP6 | c.48C>T (p.Gly16=) | dbSNP |
| MT | m.8575C>A | CA414796769 | MT-ATP6 | c.49C>A (p.Leu17Ile) | |
| MT | m.8575C= | CA2499565752 | MT-ATP6 | c.49C= (p.Leu17=) | |
| MT | m.8575C>G | CA414796770 | MT-ATP6 | c.49C>G (p.Leu17Val) | |
| MT | m.8575C>T | CA913179413 | MT-ATP6 | c.49C>T (p.Leu17=) | dbSNP |
| MT | m.8576T>A | CA414796771 | MT-ATP6 | c.50T>A (p.Leu17Gln) | |
| MT | m.8576T>C | CA414796772 | MT-ATP6 | c.50T>C (p.Leu17Pro) | ClinVar dbSNP |
| MT | m.8576T>G | CA414796775 | MT-ATP6 | c.50T>G (p.Leu17Arg) | |
| MT | m.8576T= | CA2499565753 | MT-ATP6 | c.50T= (p.Leu17=) | |
| MT | m.8577A= | CA2499565754 | MT-ATP6 | c.51A= (p.Leu17=) | |
| MT | m.8577A>C | CA913179417 | MT-ATP6 | c.51A>C (p.Leu17=) | dbSNP |
| MT | m.8577A>G | CA913179416 | MT-ATP6 | c.51A>G (p.Leu17=) | dbSNP |
| MT | m.8577A>T | CA913179415 | MT-ATP6 | c.51A>T (p.Leu17=) | |
| MT | m.8578C>A | CA414796777 | MT-ATP6 | c.52C>A (p.Pro18Thr) | |
| MT | m.8578C= | CA2499565755 | MT-ATP6 | c.52C= (p.Pro18=) | |
| MT | m.8578C>G | CA414796779 | MT-ATP6 | c.52C>G (p.Pro18Ala) | |
| MT | m.8578C>T | CA414796782 | MT-ATP6 | c.52C>T (p.Pro18Ser) | ClinVar dbSNP |
| MT | m.8579C>A | CA414796789 | MT-ATP6 | c.53C>A (p.Pro18His) | |
| MT | m.8579C= | CA2573329872 | MT-ATP6 | c.53C= (p.Pro18=) | |
| MT | m.8579C>G | CA414796791 | MT-ATP6 | c.53C>G (p.Pro18Arg) | |
| MT | m.8579C>T | CA414796793 | MT-ATP6 | c.53C>T (p.Pro18Leu) | dbSNP |
| MT | m.8580C>A | CA913179424 | MT-ATP6 | c.54C>A (p.Pro18=) | |
| MT | m.8580C= | CA2499565756 | MT-ATP6 | c.54C= (p.Pro18=) | |
| MT | m.8580C>G | CA913179423 | MT-ATP6 | c.54C>G (p.Pro18=) | |
| MT | m.8580C>T | CA913179422 | MT-ATP6 | c.54C>T (p.Pro18=) | dbSNP |
| MT | m.8581G>A | CA414796797 | MT-ATP6 | c.55G>A (p.Ala19Thr) | ClinVar dbSNP |
| MT | m.8581G>C | CA414796796 | MT-ATP6 | c.55G>C (p.Ala19Pro) | |
| MT | m.8581G= | CA2499565757 | MT-ATP6 | c.55G= (p.Ala19=) | |
| MT | m.8581G>T | CA414796794 | MT-ATP6 | c.55G>T (p.Ala19Ser) | |
| MT | m.8582C>A | CA414796799 | MT-ATP6 | c.56C>A (p.Ala19Asp) | |
| MT | m.8582C= | CA2499565758 | MT-ATP6 | c.56C= (p.Ala19=) | |
| MT | m.8582C>G | CA414796801 | MT-ATP6 | c.56C>G (p.Ala19Gly) | |
| MT | m.8582C>T | CA414796803 | MT-ATP6 | c.56C>T (p.Ala19Val) | ClinVar dbSNP |
| MT | m.8583C>A | CA913179428 | MT-ATP6 | c.57C>A (p.Ala19=) | |
| MT | m.8583C= | CA2499565759 | MT-ATP6 | c.57C= (p.Ala19=) | |
| MT | m.8583C>G | CA913179427 | MT-ATP6 | c.57C>G (p.Ala19=) | |
| MT | m.8583C>T | CA913179426 | MT-ATP6 | c.57C>T (p.Ala19=) | dbSNP |
| MT | m.8584G>A | CA337097932 | MT-ATP6 | c.58G>A (p.Ala20Thr) | ClinVar dbSNP |
| MT | m.8584G>C | CA414796806 | MT-ATP6 | c.58G>C (p.Ala20Pro) | |
| MT | m.8584G= | CA2499565760 | MT-ATP6 | c.58G= (p.Ala20=) | |
| MT | m.8584G>T | CA414796807 | MT-ATP6 | c.58G>T (p.Ala20Ser) | |
| MT | m.8585C>A | CA414796810 | MT-ATP6 | c.59C>A (p.Ala20Glu) | |
| MT | m.8585C= | CA2573329887 | MT-ATP6 | c.59C= (p.Ala20=) | |
| MT | m.8585C>G | CA414796811 | MT-ATP6 | c.59C>G (p.Ala20Gly) | |
| MT | m.8585C>T | CA414796813 | MT-ATP6 | c.59C>T (p.Ala20Val) | |
| MT | m.8587_12967del | CA645373337 | ClinVar |