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.8461C>A | CA414796194 | MT-ATP8 | c.96C>A (p.Asn32Lys) | ClinVar dbSNP |
MT | m.8461C= | CA2499565675 | MT-ATP8 | c.96C= (p.Asn32=) | |
MT | m.8461C>G | CA414796195 | MT-ATP8 | c.96C>G (p.Asn32Lys) | |
MT | m.8461C>T | CA913179243 | MT-ATP8 | c.96C>T (p.Asn32=) | dbSNP |
MT | m.8462T>A | CA414796197 | MT-ATP8 | c.97T>A (p.Tyr33Asn) | |
MT | m.8462T>C | CA414796199 | MT-ATP8 | c.97T>C (p.Tyr33His) | ClinVar dbSNP |
MT | m.8462T>G | CA414796201 | MT-ATP8 | c.97T>G (p.Tyr33Asp) | |
MT | m.8462T= | CA2499565676 | MT-ATP8 | c.97T= (p.Tyr33=) | |
MT | m.8463A= | CA2499565677 | MT-ATP8 | c.98A= (p.Tyr33=) | |
MT | m.8463A>C | CA414796206 | MT-ATP8 | c.98A>C (p.Tyr33Ser) | |
MT | m.8463A>G | CA414796207 | MT-ATP8 | c.98A>G (p.Tyr33Cys) | ClinVar dbSNP |
MT | m.8463A>T | CA414796204 | MT-ATP8 | c.98A>T (p.Tyr33Phe) | |
MT | m.8464C>A | CA414796209 | MT-ATP8 | c.99C>A (p.Tyr33Ter) | |
MT | m.8464C= | CA2499565678 | MT-ATP8 | c.99C= (p.Tyr33=) | |
MT | m.8464C>G | CA414796211 | MT-ATP8 | c.99C>G (p.Tyr33Ter) | |
MT | m.8464C>T | CA913179246 | MT-ATP8 | c.99C>T (p.Tyr33=) | dbSNP |
MT | m.8465C>A | CA414796213 | MT-ATP8 | c.100C>A (p.His34Asn) | |
MT | m.8465C= | CA2573329584 | MT-ATP8 | c.100C= (p.His34=) | |
MT | m.8465C>G | CA414796214 | MT-ATP8 | c.100C>G (p.His34Asp) | |
MT | m.8465C>T | CA414796216 | MT-ATP8 | c.100C>T (p.His34Tyr) | |
MT | m.8466A= | CA2499565679 | MT-ATP8 | c.101A= (p.His34=) | |
MT | m.8466A>C | CA414796222 | MT-ATP8 | c.101A>C (p.His34Pro) | dbSNP |
MT | m.8466A>G | CA414796218 | MT-ATP8 | c.101A>G (p.His34Arg) | ClinVar dbSNP |
MT | m.8466A>T | CA414796220 | MT-ATP8 | c.101A>T (p.His34Leu) | |
MT | m.8467C>A | CA414796223 | MT-ATP8 | c.102C>A (p.His34Gln) | |
MT | m.8467C= | CA2499565680 | MT-ATP8 | c.102C= (p.His34=) | |
MT | m.8467C>G | CA414796225 | MT-ATP8 | c.102C>G (p.His34Gln) | |
MT | m.8467C>T | CA913179250 | MT-ATP8 | c.102C>T (p.His34=) | dbSNP |
MT | m.8468C>A | CA414796228 | MT-ATP8 | c.103C>A (p.Leu35Ile) | dbSNP |
MT | m.8468C= | CA2499565681 | MT-ATP8 | c.103C= (p.Leu35=) | |
MT | m.8468C>G | CA414796229 | MT-ATP8 | c.103C>G (p.Leu35Val) | |
MT | m.8468C>T | CA337097884 | MT-ATP8 | c.103C>T (p.Leu35=) | dbSNP |
MT | m.8469T>A | CA414796232 | MT-ATP8 | c.104T>A (p.Leu35Gln) | |
MT | m.8469T>C | CA414796235 | MT-ATP8 | c.104T>C (p.Leu35Pro) | ClinVar dbSNP |
MT | m.8469T>G | CA414796234 | MT-ATP8 | c.104T>G (p.Leu35Arg) | |
MT | m.8469T= | CA2499565682 | MT-ATP8 | c.104T= (p.Leu35=) | |
MT | m.8470A= | CA2499565683 | MT-ATP8 | c.105A= (p.Leu35=) | |
MT | m.8470A>C | CA913179261 | MT-ATP8 | c.105A>C (p.Leu35=) | |
MT | m.8470A>G | CA913179257 | MT-ATP8 | c.105A>G (p.Leu35=) | dbSNP |
MT | m.8470A>T | CA913179260 | MT-ATP8 | c.105A>T (p.Leu35=) | dbSNP |
MT | m.8483_13459del | CA645373336 | ClinVar | ||
MT | m.8471C>A | CA414796238 | MT-ATP8 | c.106C>A (p.Pro36Thr) | |
MT | m.8471C= | CA2499565684 | MT-ATP8 | c.106C= (p.Pro36=) | |
MT | m.8471C>G | CA414796239 | MT-ATP8 | c.106C>G (p.Pro36Ala) | |
MT | m.8471C>T | CA414796241 | MT-ATP8 | c.106C>T (p.Pro36Ser) | ClinVar dbSNP |
MT | m.8475_8478dup | CA2740098131 | MT-ATP8 | c.110_113dup (p.Pro39LeufsTer11) | |
MT | m.8472C>A | CA414796243 | MT-ATP8 | c.107C>A (p.Pro36His) | dbSNP |
MT | m.8472C= | CA2499565685 | MT-ATP8 | c.107C= (p.Pro36=) | |
MT | m.8472C>G | CA414796245 | MT-ATP8 | c.107C>G (p.Pro36Arg) | |
MT | m.8472C>T | CA337097887 | MT-ATP8 | c.107C>T (p.Pro36Leu) | ClinVar dbSNP |
MT | m.8473T>A | CA913179264 | MT-ATP8 | c.108T>A (p.Pro36=) | dbSNP |
MT | m.8473T>C | CA337097896 | MT-ATP8 | c.108T>C (p.Pro36=) | dbSNP |
MT | m.8473T>G | CA913179263 | MT-ATP8 | c.108T>G (p.Pro36=) | |
MT | m.8473T= | CA2499565686 | MT-ATP8 | c.108T= (p.Pro36=) | |
MT | m.8473dup | CA2573105002 | MT-ATP8 | c.108dup (p.Pro37SerfsTer12) | |
MT | m.8474C>A | CA414796251 | MT-ATP8 | c.109C>A (p.Pro37Thr) | |
MT | m.8474C= | CA2499565687 | MT-ATP8 | c.109C= (p.Pro37=) | |
MT | m.8474C>G | CA414796252 | MT-ATP8 | c.109C>G (p.Pro37Ala) | |
MT | m.8474C>T | CA414796253 | MT-ATP8 | c.109C>T (p.Pro37Ser) | ClinVar dbSNP |
MT | m.8475C>A | CA414796262 | MT-ATP8 | c.110C>A (p.Pro37His) | |
MT | m.8475C= | CA2573329606 | MT-ATP8 | c.110C= (p.Pro37=) | |
MT | m.8475C>G | CA414796260 | MT-ATP8 | c.110C>G (p.Pro37Arg) | |
MT | m.8475C>T | CA414796256 | MT-ATP8 | c.110C>T (p.Pro37Leu) | |
MT | m.8476C>A | CA913179267 | MT-ATP8 | c.111C>A (p.Pro37=) | |
MT | m.8476C= | CA2573329607 | MT-ATP8 | c.111C= (p.Pro37=) | |
MT | m.8476C>G | CA913179266 | MT-ATP8 | c.111C>G (p.Pro37=) | |
MT | m.8476C>T | CA913179265 | MT-ATP8 | c.111C>T (p.Pro37=) | |
MT | m.8477T>A | CA414796264 | MT-ATP8 | c.112T>A (p.Ser38Thr) | |
MT | m.8477T>C | CA414796268 | MT-ATP8 | c.112T>C (p.Ser38Pro) | ClinVar dbSNP |
MT | m.8477T>G | CA414796266 | MT-ATP8 | c.112T>G (p.Ser38Ala) | |
MT | m.8477T= | CA2499565688 | MT-ATP8 | c.112T= (p.Ser38=) | |
MT | m.8478C>A | CA414796272 | MT-ATP8 | c.113C>A (p.Ser38Ter) | |
MT | m.8478C= | CA2499565689 | MT-ATP8 | c.113C= (p.Ser38=) | |
MT | m.8478C>G | CA414796274 | MT-ATP8 | c.113C>G (p.Ser38Ter) | |
MT | m.8478C>T | CA337097898 | MT-ATP8 | c.113C>T (p.Ser38Leu) | ClinVar dbSNP |
MT | m.8479A= | CA2499565690 | MT-ATP8 | c.114A= (p.Ser38=) | |
MT | m.8479A>C | CA913179274 | MT-ATP8 | c.114A>C (p.Ser38=) | |
MT | m.8479A>G | CA913179269 | MT-ATP8 | c.114A>G (p.Ser38=) | dbSNP |
MT | m.8479A>T | CA913179268 | MT-ATP8 | c.114A>T (p.Ser38=) | dbSNP |
MT | m.8480C>A | CA414796277 | MT-ATP8 | c.115C>A (p.Pro39Thr) | |
MT | m.8480C= | CA2499565691 | MT-ATP8 | c.115C= (p.Pro39=) | |
MT | m.8480C>G | CA414796279 | MT-ATP8 | c.115C>G (p.Pro39Ala) | |
MT | m.8480C>T | CA414796281 | MT-ATP8 | c.115C>T (p.Pro39Ser) | ClinVar dbSNP |
MT | m.8480_13440del | CA915952050 | ClinVar | ||
MT | m.8481C>A | CA414796283 | MT-ATP8 | c.116C>A (p.Pro39Gln) | |
MT | m.8481C= | CA2499565692 | MT-ATP8 | c.116C= (p.Pro39=) | |
MT | m.8481C>G | CA414796285 | MT-ATP8 | c.116C>G (p.Pro39Arg) | |
MT | m.8481C>T | CA414796287 | MT-ATP8 | c.116C>T (p.Pro39Leu) | ClinVar dbSNP |
MT | m.8482A= | CA2573329622 | MT-ATP8 | c.117A= (p.Pro39=) | |
MT | m.8482A>C | CA913179283 | MT-ATP8 | c.117A>C (p.Pro39=) | |
MT | m.8482A>G | CA913179279 | MT-ATP8 | c.117A>G (p.Pro39=) | |
MT | m.8482A>T | CA913179278 | MT-ATP8 | c.117A>T (p.Pro39=) | |
MT | m.8483A= | CA2499565693 | MT-ATP8 | c.118A= (p.Lys40=) | |
MT | m.8483A>C | CA414796289 | MT-ATP8 | c.118A>C (p.Lys40Gln) | |
MT | m.8483A>G | CA337097900 | MT-ATP8 | c.118A>G (p.Lys40Glu) | dbSNP |
MT | m.8483A>T | CA414796292 | MT-ATP8 | c.118A>T (p.Lys40Ter) | |
MT | m.8484A= | CA2513196715 | MT-ATP8 | c.119A= (p.Lys40=) | |
MT | m.8484A>C | CA414796293 | MT-ATP8 | c.119A>C (p.Lys40Thr) | |
MT | m.8484A>G | CA414796297 | MT-ATP8 | c.119A>G (p.Lys40Arg) | |
MT | m.8484A>T | CA414796295 | MT-ATP8 | c.119A>T (p.Lys40Met) | |
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 |