Chr Mutation (hg38) CAid Gene Transcript Linkouts
MTm.5774_14768delCA2580610836
MTm.5780_14107delCA2580610932
MTm.5782_13922delCA250413 ClinVar
MTm.5788_13923delCA2580618295
MTm.5794_14876delCA250414 ClinVar
MTm.6470_15588delCA645373332 ClinVar
MTm.7129_13991delCA645373333 ClinVar
MTm.8290_13040delCA645373335 ClinVar
MTm.8350_13450delCA915952048 ClinVar
MTm.8483_13459delCA645373336 ClinVar
MTm.8480_13440delCA915952050 ClinVar
MTm.8587_12967delCA645373337 ClinVar
MTm.8815_13722delCA645373338 ClinVar
MTm.8839_14895delCA645373339 ClinVar
MTm.9062_16052delCA2580618296
MTm.10106_15067delCA645373340 ClinVar
MTm.10775_14941delCA2740090229 ClinVar
MTm.10950_15540delCA2580102079 ClinVar
MTm.11263_15374delCA645373341 ClinVar
MTm.12114_14420delCA645373342 ClinVar
MTm.12481T>ACA414813361MT-ND5c.145T>A (p.Phe49Ile)
ClinVar dbSNP
MTm.12481T>CCA414813358MT-ND5c.145T>C (p.Phe49Leu)
ClinVar dbSNP
MTm.12481T>GCA414813360MT-ND5c.145T>G (p.Phe49Val)
MTm.12481T=CA2499567609MT-ND5c.145T= (p.Phe49=)
MTm.12482T>ACA414813364MT-ND5c.146T>A (p.Phe49Tyr)
MTm.12482T>CCA414813365MT-ND5c.146T>C (p.Phe49Ser)
MTm.12482T>GCA414813367MT-ND5c.146T>G (p.Phe49Cys)
MTm.12482T=CA2513684389MT-ND5c.146T= (p.Phe49=)
MTm.12483C>ACA414813370MT-ND5c.147C>A (p.Phe49Leu)
MTm.12483C=CA2573329585MT-ND5c.147C= (p.Phe49=)
MTm.12483C>GCA414813372MT-ND5c.147C>G (p.Phe49Leu)
MTm.12483C>TCA913170346MT-ND5c.147C>T (p.Phe49=)
MTm.12486dupCA2740098378MT-ND5c.150dup (p.Thr51HisfsTer?)
MTm.12484C>ACA414813374MT-ND5c.148C>A (p.Pro50Thr)
MTm.12484C=CA2573329587MT-ND5c.148C= (p.Pro50=)
MTm.12484C>GCA414813376MT-ND5c.148C>G (p.Pro50Ala)
MTm.12484C>TCA414813377MT-ND5c.148C>T (p.Pro50Ser)
MTm.12485C>ACA414813380MT-ND5c.149C>A (p.Pro50His)
MTm.12485C=CA2573329588MT-ND5c.149C= (p.Pro50=)
MTm.12485C>GCA414813382MT-ND5c.149C>G (p.Pro50Arg)
MTm.12485C>TCA414813384MT-ND5c.149C>T (p.Pro50Leu)
MTm.12486C>ACA913170349MT-ND5c.150C>A (p.Pro50=)
MTm.12486C=CA2499567610MT-ND5c.150C= (p.Pro50=)
MTm.12486C>GCA913170348MT-ND5c.150C>G (p.Pro50=)
MTm.12486C>TCA913170347MT-ND5c.150C>T (p.Pro50=)
dbSNP
MTm.12487A=CA2573329589MT-ND5c.151A= (p.Thr51=)
MTm.12487A>CCA414813390MT-ND5c.151A>C (p.Thr51Pro)
MTm.12487A>GCA414813386MT-ND5c.151A>G (p.Thr51Ala)
MTm.12487A>TCA414813388MT-ND5c.151A>T (p.Thr51Ser)
MTm.12488C>ACA414813392MT-ND5c.152C>A (p.Thr51Lys)
MTm.12488C=CA2573329590MT-ND5c.152C= (p.Thr51=)
MTm.12488C>GCA414813394MT-ND5c.152C>G (p.Thr51Arg)
MTm.12488C>TCA414813396MT-ND5c.152C>T (p.Thr51Ile)
MTm.12489A=CA2573329592MT-ND5c.153A= (p.Thr51=)
MTm.12489A>CCA913170351MT-ND5c.153A>C (p.Thr51=)
MTm.12489A>GCA913170353MT-ND5c.153A>G (p.Thr51=)
dbSNP
MTm.12489A>TCA913170352MT-ND5c.153A>T (p.Thr51=)
MTm.12490A=CA2499567611MT-ND5c.154A= (p.Thr52=)
MTm.12490A>CCA414813398MT-ND5c.154A>C (p.Thr52Pro)
MTm.12490A>GCA414813400MT-ND5c.154A>G (p.Thr52Ala)
ClinVar dbSNP
MTm.12490A>TCA414813402MT-ND5c.154A>T (p.Thr52Ser)
MTm.12491C>ACA414813404MT-ND5c.155C>A (p.Thr52Lys)
MTm.12491C=CA2573329596MT-ND5c.155C= (p.Thr52=)
MTm.12491C>GCA414813406MT-ND5c.155C>G (p.Thr52Arg)
MTm.12491C>TCA414813408MT-ND5c.155C>T (p.Thr52Ile)
MTm.12492A=CA2499567612MT-ND5c.156A= (p.Thr52=)
MTm.12492A>CCA913170356MT-ND5c.156A>C (p.Thr52=)
MTm.12492A>GCA913170355MT-ND5c.156A>G (p.Thr52=)
dbSNP
MTm.12492A>TCA913170354MT-ND5c.156A>T (p.Thr52=)
dbSNP
MTm.12493A=CA2499567613MT-ND5c.157A= (p.Ile53=)
MTm.12493A>CCA414813411MT-ND5c.157A>C (p.Ile53Leu)
MTm.12493A>GCA414813413MT-ND5c.157A>G (p.Ile53Val)
ClinVar dbSNP
MTm.12493A>TCA414813415MT-ND5c.157A>T (p.Ile53Leu)
MTm.12495_12496delCA2573105240MT-ND5c.159_160del (p.Phe54HisfsTer?)
MTm.12494T>ACA414813421MT-ND5c.158T>A (p.Ile53Lys)
MTm.12494T>CCA414813420MT-ND5c.158T>C (p.Ile53Thr)
dbSNP
MTm.12494T>GCA414813418MT-ND5c.158T>G (p.Ile53Arg)
MTm.12494T=CA2499567614MT-ND5c.158T= (p.Ile53=)
MTm.12495A=CA2573329601MT-ND5c.159A= (p.Ile53=)
MTm.12495A>CCA913170358MT-ND5c.159A>C (p.Ile53=)
MTm.12495A>GCA414813424MT-ND5c.159A>G (p.Ile53Met)
MTm.12495A>TCA913170357MT-ND5c.159A>T (p.Ile53=)
MTm.12496T>ACA414813426MT-ND5c.160T>A (p.Phe54Ile)
MTm.12496T>CCA414813428MT-ND5c.160T>C (p.Phe54Leu)
MTm.12496T>GCA414813430MT-ND5c.160T>G (p.Phe54Val)
MTm.12496T=CA2573329604MT-ND5c.160T= (p.Phe54=)
MTm.12497T>ACA414813433MT-ND5c.161T>A (p.Phe54Tyr)
MTm.12497T>CCA414813435MT-ND5c.161T>C (p.Phe54Ser)
MTm.12497T>GCA414813436MT-ND5c.161T>G (p.Phe54Cys)
MTm.12497T=CA2513158238MT-ND5c.161T= (p.Phe54=)
MTm.12498C>ACA414813439MT-ND5c.162C>A (p.Phe54Leu)
MTm.12498C=CA2499567615MT-ND5c.162C= (p.Phe54=)
MTm.12498C>GCA414813441MT-ND5c.162C>G (p.Phe54Leu)
MTm.12498C>TCA913170359MT-ND5c.162C>T (p.Phe54=)
dbSNP
MTm.12499A=CA2499567616MT-ND5c.163A= (p.Met55=)
MTm.12499A>CCA414813443MT-ND5c.163A>C (p.Met55Leu)
MTm.12499A>GCA414813445MT-ND5c.163A>G (p.Met55Val)
ClinVar dbSNP
MTm.12499A>TCA414813447MT-ND5c.163A>T (p.Met55Leu)
MTm.12500T>ACA414813453MT-ND5c.164T>A (p.Met55Lys)
MTm.12500T>CCA414813450MT-ND5c.164T>C (p.Met55Thr)
COSMIC
MTm.12500T>GCA414813451MT-ND5c.164T>G (p.Met55Arg)
MTm.12500T=CA2573329610MT-ND5c.164T= (p.Met55=)
MTm.12501G>ACA337099494MT-ND5c.165G>A (p.Met55Ile)
dbSNP
MTm.12501G>CCA414813456MT-ND5c.165G>C (p.Met55Ile)
ClinVar dbSNP
MTm.12501G=CA2499567617MT-ND5c.165G= (p.Met55=)
MTm.12501G>TCA414813457MT-ND5c.165G>T (p.Met55Ile)
MTm.12502T>ACA414813461MT-ND5c.166T>A (p.Cys56Ser)
MTm.12502T>CCA414813462MT-ND5c.166T>C (p.Cys56Arg)
MTm.12502T>GCA414813463MT-ND5c.166T>G (p.Cys56Gly)
MTm.12502T=CA2573329615MT-ND5c.166T= (p.Cys56=)
MTm.12503G>ACA414813466MT-ND5c.167G>A (p.Cys56Tyr)
MTm.12503G>CCA414813468MT-ND5c.167G>C (p.Cys56Ser)
MTm.12503G=CA2573329617MT-ND5c.167G= (p.Cys56=)
MTm.12503G>TCA414813470MT-ND5c.167G>T (p.Cys56Phe)
MTm.12504C>ACA414813472MT-ND5c.168C>A (p.Cys56Ter)
MTm.12504C=CA2499567618MT-ND5c.168C= (p.Cys56=)
MTm.12504C>GCA414813474MT-ND5c.168C>G (p.Cys56Trp)
MTm.12504C>TCA913170360MT-ND5c.168C>T (p.Cys56=)
dbSNP
MTm.12505C>ACA414813476MT-ND5c.169C>A (p.Leu57Ile)
MTm.12505C=CA2499567619MT-ND5c.169C= (p.Leu57=)
MTm.12505C>GCA414813478MT-ND5c.169C>G (p.Leu57Val)
MTm.12505C>TCA913170361MT-ND5c.169C>T (p.Leu57=)
dbSNP
MTm.12506T>ACA414813481MT-ND5c.170T>A (p.Leu57Gln)
MTm.12506T>CCA414813485MT-ND5c.170T>C (p.Leu57Pro)
MTm.12506T>GCA414813482MT-ND5c.170T>G (p.Leu57Arg)
MTm.12506T=CA2573329620MT-ND5c.170T= (p.Leu57=)
MTm.12507A=CA2499567620MT-ND5c.171A= (p.Leu57=)
MTm.12507A>CCA913170362MT-ND5c.171A>C (p.Leu57=)
MTm.12507A>GCA337099496MT-ND5c.171A>G (p.Leu57=)
dbSNP
MTm.12507A>TCA913170363MT-ND5c.171A>T (p.Leu57=)
MTm.12508G>ACA414813489MT-ND5c.172G>A (p.Asp58Asn)
COSMIC
MTm.12508G>CCA414813490MT-ND5c.172G>C (p.Asp58His)
MTm.12508G=CA2573329623MT-ND5c.172G= (p.Asp58=)
MTm.12508G>TCA414813493MT-ND5c.172G>T (p.Asp58Tyr)
MTm.12509A=CA2499567621MT-ND5c.173A= (p.Asp58=)
MTm.12509A>CCA414813495MT-ND5c.173A>C (p.Asp58Ala)
MTm.12509A>GCA414813497MT-ND5c.173A>G (p.Asp58Gly)
ClinVar dbSNP
MTm.12509A>TCA414813499MT-ND5c.173A>T (p.Asp58Val)
MTm.12510C>ACA414813501MT-ND5c.174C>A (p.Asp58Glu)
MTm.12510C=CA2499567622MT-ND5c.174C= (p.Asp58=)
MTm.12510C>GCA414813502MT-ND5c.174C>G (p.Asp58Glu)
MTm.12510C>TCA913170364MT-ND5c.174C>T (p.Asp58=)
dbSNP
MTm.12511C>ACA414813506MT-ND5c.175C>A (p.Gln59Lys)
MTm.12511C=CA2573329626MT-ND5c.175C= (p.Gln59=)
MTm.12511C>GCA414813509MT-ND5c.175C>G (p.Gln59Glu)
MTm.12511C>TCA414813507MT-ND5c.175C>T (p.Gln59Ter)
MTm.12512A=CA2499567623MT-ND5c.176A= (p.Gln59=)
MTm.12512A>CCA414813511MT-ND5c.176A>C (p.Gln59Pro)
MTm.12512A>GCA414813513MT-ND5c.176A>G (p.Gln59Arg)
MTm.12512A>TCA414813515MT-ND5c.176A>T (p.Gln59Leu)
ClinVar dbSNP
MTm.12513A=CA2499567624MT-ND5c.177A= (p.Gln59=)
MTm.12513A>CCA414813518MT-ND5c.177A>C (p.Gln59His)
MTm.12513A>GCA913170365MT-ND5c.177A>G (p.Gln59=)
dbSNP
MTm.12513A>TCA414813520MT-ND5c.177A>T (p.Gln59His)
MTm.12514G>ACA414813523MT-ND5c.178G>A (p.Glu60Lys)
MTm.12514G>CCA414813525MT-ND5c.178G>C (p.Glu60Gln)
MTm.12514G=CA2573329630MT-ND5c.178G= (p.Glu60=)
MTm.12514G>TCA414813526MT-ND5c.178G>T (p.Glu60Ter)
MTm.12515A=CA2573329632MT-ND5c.179A= (p.Glu60=)
MTm.12515A>CCA414813529MT-ND5c.179A>C (p.Glu60Ala)
MTm.12515A>GCA414813531MT-ND5c.179A>G (p.Glu60Gly)
MTm.12515A>TCA414813532MT-ND5c.179A>T (p.Glu60Val)
MTm.12516A=CA2573329634MT-ND5c.180A= (p.Glu60=)
MTm.12516A>CCA414813534MT-ND5c.180A>C (p.Glu60Asp)
MTm.12516A>GCA913170366MT-ND5c.180A>G (p.Glu60=)
MTm.12516A>TCA414813536MT-ND5c.180A>T (p.Glu60Asp)
MTm.12517G>ACA414813542MT-ND5c.181G>A (p.Val61Ile)
MTm.12517G>CCA414813538MT-ND5c.181G>C (p.Val61Leu)
MTm.12517G=CA2573329636MT-ND5c.181G= (p.Val61=)
MTm.12517G>TCA414813539MT-ND5c.181G>T (p.Val61Phe)
MTm.12518T>ACA414813544MT-ND5c.182T>A (p.Val61Asp)
MTm.12518T>CCA414813546MT-ND5c.182T>C (p.Val61Ala)
COSMIC
MTm.12518T>GCA414813548MT-ND5c.182T>G (p.Val61Gly)
MTm.12518T=CA2573329637MT-ND5c.182T= (p.Val61=)
MTm.12519T>ACA913170367MT-ND5c.183T>A (p.Val61=)
MTm.12519T>CCA337099498MT-ND5c.183T>C (p.Val61=)
dbSNP
MTm.12519T>GCA913170368MT-ND5c.183T>G (p.Val61=)
MTm.12519T=CA2499567625MT-ND5c.183T= (p.Val61=)
MTm.12520A=CA2499567626MT-ND5c.184A= (p.Ile62=)
MTm.12520A>CCA414813552MT-ND5c.184A>C (p.Ile62Leu)
MTm.12520A>GCA414813553MT-ND5c.184A>G (p.Ile62Val)
ClinVar dbSNP
MTm.12520A>TCA414813556MT-ND5c.184A>T (p.Ile62Phe)
MTm.12521T>ACA414813558MT-ND5c.185T>A (p.Ile62Asn)
MTm.12521T>CCA414813560MT-ND5c.185T>C (p.Ile62Thr)
MTm.12521T>GCA414813562MT-ND5c.185T>G (p.Ile62Ser)
MTm.12521T=CA2573329641MT-ND5c.185T= (p.Ile62=)
MTm.12522T>ACA913170369MT-ND5c.186T>A (p.Ile62=)
MTm.12522T>CCA913170370MT-ND5c.186T>C (p.Ile62=)
MTm.12522T>GCA414813564MT-ND5c.186T>G (p.Ile62Met)
MTm.12522T=CA2573329643MT-ND5c.186T= (p.Ile62=)
MTm.12523A=CA2499567627MT-ND5c.187A= (p.Ile63=)
MTm.12523A>CCA414813570MT-ND5c.187A>C (p.Ile63Leu)
MTm.12523A>GCA414813567MT-ND5c.187A>G (p.Ile63Val)
dbSNP
MTm.12523A>TCA414813568MT-ND5c.187A>T (p.Ile63Phe)
MTm.12524T>ACA414813573MT-ND5c.188T>A (p.Ile63Asn)
MTm.12524T>CCA414813575MT-ND5c.188T>C (p.Ile63Thr)
MTm.12524T>GCA414813577MT-ND5c.188T>G (p.Ile63Ser)
MTm.12524T=CA2573329646MT-ND5c.188T= (p.Ile63=)
MTm.12525C>ACA913170371MT-ND5c.189C>A (p.Ile63=)
MTm.12525C=CA2573329650MT-ND5c.189C= (p.Ile63=)
MTm.12525C>GCA414813579MT-ND5c.189C>G (p.Ile63Met)
MTm.12525C>TCA913170372MT-ND5c.189C>T (p.Ile63=)
MTm.12526T>ACA414813582MT-ND5c.190T>A (p.Ser64Thr)
MTm.12526T>CCA414813583MT-ND5c.190T>C (p.Ser64Pro)
MTm.12526T>GCA414813585MT-ND5c.190T>G (p.Ser64Ala)
MTm.12526T=CA2573329653MT-ND5c.190T= (p.Ser64=)
MTm.12527C>ACA414813588MT-ND5c.191C>A (p.Ser64Ter)
MTm.12527C=CA2573329656MT-ND5c.191C= (p.Ser64=)
MTm.12527C>GCA414813590MT-ND5c.191C>G (p.Ser64Trp)
MTm.12527C>TCA414813592MT-ND5c.191C>T (p.Ser64Leu)
MTm.12528G>ACA913170375MT-ND5c.192G>A (p.Ser64=)
dbSNP
MTm.12528G>CCA913170374MT-ND5c.192G>C (p.Ser64=)
MTm.12528G=CA2499567628MT-ND5c.192G= (p.Ser64=)
MTm.12528G>TCA913170373MT-ND5c.192G>T (p.Ser64=)
MTm.12529A=CA2573329661MT-ND5c.193A= (p.Asn65=)
MTm.12529A>CCA414813595MT-ND5c.193A>C (p.Asn65His)
MTm.12529A>GCA414813596MT-ND5c.193A>G (p.Asn65Asp)
MTm.12529A>TCA414813598MT-ND5c.193A>T (p.Asn65Tyr)
MTm.12530A=CA2499567629MT-ND5c.194A= (p.Asn65=)
MTm.12530A>CCA414813601MT-ND5c.194A>C (p.Asn65Thr)
MTm.12530A>GCA414813604MT-ND5c.194A>G (p.Asn65Ser)
ClinVar dbSNP
MTm.12530A>TCA414813602MT-ND5c.194A>T (p.Asn65Ile)
MTm.12531C>ACA414813607MT-ND5c.195C>A (p.Asn65Lys)
MTm.12531C=CA2499567630MT-ND5c.195C= (p.Asn65=)
MTm.12531C>GCA414813609MT-ND5c.195C>G (p.Asn65Lys)
MTm.12531C>TCA913170376MT-ND5c.195C>T (p.Asn65=)
dbSNP
MTm.12532T>ACA414813611MT-ND5c.196T>A (p.Ter66Arg)
MTm.12532T>CCA414813613MT-ND5c.196T>C (p.Ter66Arg)
MTm.12532T>GCA414813614MT-ND5c.196T>G (p.Ter66Gly)
MTm.12532T=CA414813616MT-ND5c.196T= (p.Ter66=)
MTm.12533G>ACA414813619MT-ND5c.197G>A (p.Ter66=)
MTm.12533G>CCA414813620MT-ND5c.197G>C (p.Ter66Ser)
MTm.12533G=CA414813622MT-ND5c.197G= (p.Ter66=)
MTm.12533G>TCA414813624MT-ND5c.197G>T (p.Ter66Leu)
MTm.12534A=CA414813627MT-ND5c.198A= (p.Ter66=)
MTm.12534A>CCA414813631MT-ND5c.198A>C (p.Ter66Cys)
MTm.12534A>GCA414813633MT-ND5c.198A>G (p.Ter66Trp)
dbSNP
MTm.12534A>TCA414813629MT-ND5c.198A>T (p.Ter66Cys)
MTm.12535C>ACA414813635MT-ND5c.199C>A (p.His67Asn)
MTm.12535C=CA2499567631MT-ND5c.199C= (p.His67=)
MTm.12535C>GCA414813637MT-ND5c.199C>G (p.His67Asp)
MTm.12535C>TCA10581194MT-ND5c.199C>T (p.His67Tyr)
ClinVar dbSNP
MTm.12536A=CA2573329669MT-ND5c.200A= (p.His67=)
MTm.12536A>CCA414813641MT-ND5c.200A>C (p.His67Pro)
MTm.12536A>GCA414813643MT-ND5c.200A>G (p.His67Arg)
MTm.12536A>TCA414813645MT-ND5c.200A>T (p.His67Leu)
MTm.12537C>ACA414813648MT-ND5c.201C>A (p.His67Gln)
MTm.12537C=CA2573329670MT-ND5c.201C= (p.His67=)
MTm.12537C>GCA414813649MT-ND5c.201C>G (p.His67Gln)
MTm.12537C>TCA913170377MT-ND5c.201C>T (p.His67=)
MTm.12538T>ACA414813651MT-ND5c.202T>A (p.Ter68Arg)
MTm.12538T>CCA414813653MT-ND5c.202T>C (p.Ter68Arg)
MTm.12538T>GCA414813655MT-ND5c.202T>G (p.Ter68Gly)
MTm.12538T=CA414813656MT-ND5c.202T= (p.Ter68=)
MTm.12539G>ACA414813665MT-ND5c.203G>A (p.Ter68=)
dbSNP
MTm.12539G>CCA414813659MT-ND5c.203G>C (p.Ter68Ser)
MTm.12539G=CA414813663MT-ND5c.203G= (p.Ter68=)
MTm.12539G>TCA414813661MT-ND5c.203G>T (p.Ter68Leu)
MTm.12540A=CA414813667MT-ND5c.204A= (p.Ter68=)
MTm.12540A>CCA414813669MT-ND5c.204A>C (p.Ter68Cys)
MTm.12540A>GCA414813671MT-ND5c.204A>G (p.Ter68Trp)
dbSNP
MTm.12540A>TCA414813673MT-ND5c.204A>T (p.Ter68Cys)
MTm.12541G>ACA414813675MT-ND5c.205G>A (p.Ala69Thr)
dbSNP
MTm.12541G>CCA414813677MT-ND5c.205G>C (p.Ala69Pro)
MTm.12541G=CA2499567632MT-ND5c.205G= (p.Ala69=)
MTm.12541G>TCA414813678MT-ND5c.205G>T (p.Ala69Ser)
MTm.12542C>ACA414813681MT-ND5c.206C>A (p.Ala69Asp)
MTm.12542C=CA2499567633MT-ND5c.206C= (p.Ala69=)
MTm.12542C>GCA414813682MT-ND5c.206C>G (p.Ala69Gly)
MTm.12542C>TCA337099500MT-ND5c.206C>T (p.Ala69Val)
ClinVar dbSNP
MTm.12543C>ACA913170379MT-ND5c.207C>A (p.Ala69=)
MTm.12543C=CA2573329679MT-ND5c.207C= (p.Ala69=)
MTm.12543C>GCA913170378MT-ND5c.207C>G (p.Ala69=)
MTm.12543C>TCA913170380MT-ND5c.207C>T (p.Ala69=)
dbSNP
MTm.12544A=CA2499567634MT-ND5c.208A= (p.Thr70=)
MTm.12544A>CCA414813686MT-ND5c.208A>C (p.Thr70Pro)
MTm.12544A>GCA414813690MT-ND5c.208A>G (p.Thr70Ala)
ClinVar dbSNP
MTm.12544A>TCA414813688MT-ND5c.208A>T (p.Thr70Ser)
MTm.12552_12560delCA2573105241MT-ND5c.216_224del (p.Thr73_Gln75del)
MTm.12545C>ACA414813692MT-ND5c.209C>A (p.Thr70Lys)
MTm.12545C=CA2499567635MT-ND5c.209C= (p.Thr70=)
MTm.12545C>GCA414813694MT-ND5c.209C>G (p.Thr70Arg)
MTm.12545C>TCA414813696MT-ND5c.209C>T (p.Thr70Ile)
ClinVar dbSNP
MTm.12546A=CA2499567636MT-ND5c.210A= (p.Thr70=)
MTm.12546A>CCA913170383MT-ND5c.210A>C (p.Thr70=)
MTm.12546A>GCA913170381MT-ND5c.210A>G (p.Thr70=)
MTm.12546A>TCA913170382MT-ND5c.210A>T (p.Thr70=)
dbSNP
MTm.12547A=CA2573329685MT-ND5c.211A= (p.Thr71=)
MTm.12547A>CCA414813698MT-ND5c.211A>C (p.Thr71Pro)
MTm.12547A>GCA414813700MT-ND5c.211A>G (p.Thr71Ala)
MTm.12547A>TCA414813702MT-ND5c.211A>T (p.Thr71Ser)
MTm.12548C>ACA414813704MT-ND5c.212C>A (p.Thr71Asn)
MTm.12548C=CA2573329686MT-ND5c.212C= (p.Thr71=)
MTm.12548C>GCA414813706MT-ND5c.212C>G (p.Thr71Ser)
MTm.12548C>TCA414813708MT-ND5c.212C>T (p.Thr71Ile)
MTm.12549C>ACA913170384MT-ND5c.213C>A (p.Thr71=)
MTm.12549C=CA2499567637MT-ND5c.213C= (p.Thr71=)
MTm.12549C>GCA913170385MT-ND5c.213C>G (p.Thr71=)
MTm.12549C>TCA913170386MT-ND5c.213C>T (p.Thr71=)
dbSNP
MTm.12550C>ACA414813710MT-ND5c.214C>A (p.Gln72Lys)
MTm.12550C=CA2573329689MT-ND5c.214C= (p.Gln72=)
MTm.12550C>GCA414813712MT-ND5c.214C>G (p.Gln72Glu)
MTm.12550C>TCA414813713MT-ND5c.214C>T (p.Gln72Ter)
MTm.12551A=CA2573329690MT-ND5c.215A= (p.Gln72=)
MTm.12551A>CCA414813716MT-ND5c.215A>C (p.Gln72Pro)
MTm.12551A>GCA414813719MT-ND5c.215A>G (p.Gln72Arg)
MTm.12551A>TCA414813717MT-ND5c.215A>T (p.Gln72Leu)
MTm.12552A=CA2573329692MT-ND5c.216A= (p.Gln72=)
MTm.12552A>CCA414813722MT-ND5c.216A>C (p.Gln72His)
MTm.12552A>GCA913170387MT-ND5c.216A>G (p.Gln72=)
MTm.12552A>TCA414813724MT-ND5c.216A>T (p.Gln72His)
MTm.12553A=CA2573329694MT-ND5c.217A= (p.Thr73=)
MTm.12553A>CCA414813726MT-ND5c.217A>C (p.Thr73Pro)
MTm.12553A>GCA414813729MT-ND5c.217A>G (p.Thr73Ala)
MTm.12553A>TCA414813730MT-ND5c.217A>T (p.Thr73Ser)
MTm.12554C>ACA414813733MT-ND5c.218C>A (p.Thr73Lys)
MTm.12554C=CA2573329696MT-ND5c.218C= (p.Thr73=)
MTm.12554C>GCA414813735MT-ND5c.218C>G (p.Thr73Arg)
MTm.12554C>TCA414813737MT-ND5c.218C>T (p.Thr73Ile)
MTm.12555A=CA2573329699MT-ND5c.219A= (p.Thr73=)
MTm.12555A>CCA913170388MT-ND5c.219A>C (p.Thr73=)
MTm.12555A>GCA913170389MT-ND5c.219A>G (p.Thr73=)
MTm.12555A>TCA913170390MT-ND5c.219A>T (p.Thr73=)
MTm.12556A=CA2499567638MT-ND5c.220A= (p.Thr74=)
MTm.12556A>CCA414813744MT-ND5c.220A>C (p.Thr74Pro)
MTm.12556A>GCA414813742MT-ND5c.220A>G (p.Thr74Ala)
ClinVar dbSNP
MTm.12556A>TCA414813740MT-ND5c.220A>T (p.Thr74Ser)
MTm.12557C>ACA414813746MT-ND5c.221C>A (p.Thr74Asn)
MTm.12557C=CA2499567639MT-ND5c.221C= (p.Thr74=)
MTm.12557C>GCA414813750MT-ND5c.221C>G (p.Thr74Ser)
MTm.12557C>TCA414813748MT-ND5c.221C>T (p.Thr74Ile)
ClinVar dbSNP
MTm.12558C>ACA913170391MT-ND5c.222C>A (p.Thr74=)
MTm.12558C=CA2573329704MT-ND5c.222C= (p.Thr74=)
MTm.12558C>GCA913170392MT-ND5c.222C>G (p.Thr74=)
MTm.12558C>TCA913170393MT-ND5c.222C>T (p.Thr74=)
MTm.12559C>ACA414813753MT-ND5c.223C>A (p.Gln75Lys)
MTm.12559C=CA2573329707MT-ND5c.223C= (p.Gln75=)
MTm.12559C>GCA414813756MT-ND5c.223C>G (p.Gln75Glu)
MTm.12559C>TCA414813755MT-ND5c.223C>T (p.Gln75Ter)
MTm.12560A=CA2499567640MT-ND5c.224A= (p.Gln75=)
MTm.12560A>CCA414813759MT-ND5c.224A>C (p.Gln75Pro)
MTm.12560A>GCA414813762MT-ND5c.224A>G (p.Gln75Arg)
ClinVar dbSNP
MTm.12560A>TCA414813760MT-ND5c.224A>T (p.Gln75Leu)
MTm.12561G>ACA337099502MT-ND5c.225G>A (p.Gln75=)
dbSNP
MTm.12561G>CCA414813765MT-ND5c.225G>C (p.Gln75His)
ClinVar dbSNP
MTm.12561G=CA2499567641MT-ND5c.225G= (p.Gln75=)
MTm.12561G>TCA414813767MT-ND5c.225G>T (p.Gln75His)
MTm.12562C>ACA414813770MT-ND5c.226C>A (p.Leu76Ile)
MTm.12562C=CA2499567642MT-ND5c.226C= (p.Leu76=)
MTm.12562C>GCA414813771MT-ND5c.226C>G (p.Leu76Val)
MTm.12562C>TCA414813773MT-ND5c.226C>T (p.Leu76Phe)
dbSNP
MTm.12563T>ACA414813776MT-ND5c.227T>A (p.Leu76His)
MTm.12563T>CCA414813777MT-ND5c.227T>C (p.Leu76Pro)
dbSNP
MTm.12563T>GCA414813779MT-ND5c.227T>G (p.Leu76Arg)
MTm.12563T=CA2573329712MT-ND5c.227T= (p.Leu76=)
MTm.12564C>ACA913170396MT-ND5c.228C>A (p.Leu76=)
MTm.12564C=CA2499567643MT-ND5c.228C= (p.Leu76=)
MTm.12564C>GCA913170394MT-ND5c.228C>G (p.Leu76=)
MTm.12564C>TCA913170395MT-ND5c.228C>T (p.Leu76=)
dbSNP
MTm.12565T>ACA414813785MT-ND5c.229T>A (p.Ser77Thr)
MTm.12565T>CCA414813782MT-ND5c.229T>C (p.Ser77Pro)
MTm.12565T>GCA414813783MT-ND5c.229T>G (p.Ser77Ala)
MTm.12565T=CA2573329716MT-ND5c.229T= (p.Ser77=)
MTm.12566C>ACA414813787MT-ND5c.230C>A (p.Ser77Tyr)
MTm.12566C=CA2573329718MT-ND5c.230C= (p.Ser77=)
MTm.12566C>GCA414813788MT-ND5c.230C>G (p.Ser77Cys)
MTm.12566C>TCA414813790MT-ND5c.230C>T (p.Ser77Phe)
MTm.12567C>ACA913170399MT-ND5c.231C>A (p.Ser77=)
MTm.12567C=CA2499567644MT-ND5c.231C= (p.Ser77=)
MTm.12567C>GCA913170398MT-ND5c.231C>G (p.Ser77=)
MTm.12567C>TCA913170397MT-ND5c.231C>T (p.Ser77=)
dbSNP
MTm.12568C>ACA337099504MT-ND5c.232C>A (p.Leu78Ile)
dbSNP
MTm.12568C=CA2499567645MT-ND5c.232C= (p.Leu78=)
MTm.12568C>GCA414813794MT-ND5c.232C>G (p.Leu78Val)
MTm.12568C>TCA913170400MT-ND5c.232C>T (p.Leu78=)
MTm.12569T>ACA414813797MT-ND5c.233T>A (p.Leu78Gln)
MTm.12569T>CCA414813798MT-ND5c.233T>C (p.Leu78Pro)
COSMIC
MTm.12569T>GCA414813800MT-ND5c.233T>G (p.Leu78Arg)
MTm.12569T=CA2573329721MT-ND5c.233T= (p.Leu78=)
MTm.12570A=CA2499567646MT-ND5c.234A= (p.Leu78=)
MTm.12570A>CCA913170401MT-ND5c.234A>C (p.Leu78=)
MTm.12570A>GCA913170402MT-ND5c.234A>G (p.Leu78=)
dbSNP
MTm.12570A>TCA913170403MT-ND5c.234A>T (p.Leu78=)
MTm.12571A=CA2573329724MT-ND5c.235A= (p.Ser79=)
MTm.12571A>CCA414813805MT-ND5c.235A>C (p.Ser79Arg)
MTm.12571A>GCA414813807MT-ND5c.235A>G (p.Ser79Gly)
MTm.12571A>TCA414813803MT-ND5c.235A>T (p.Ser79Cys)
MTm.12572G>ACA414813809MT-ND5c.236G>A (p.Ser79Asn)
MTm.12572G>CCA414813811MT-ND5c.236G>C (p.Ser79Thr)
MTm.12572G=CA2573329725MT-ND5c.236G= (p.Ser79=)
MTm.12572G>TCA414813813MT-ND5c.236G>T (p.Ser79Ile)
MTm.12573C>ACA414813815MT-ND5c.237C>A (p.Ser79Arg)
MTm.12573C=CA2573329726MT-ND5c.237C= (p.Ser79=)
MTm.12573C>GCA414813817MT-ND5c.237C>G (p.Ser79Arg)
MTm.12573C>TCA913170404MT-ND5c.237C>T (p.Ser79=)
MTm.12574T>ACA414813819MT-ND5c.238T>A (p.Phe80Ile)
MTm.12574T>CCA414813821MT-ND5c.238T>C (p.Phe80Leu)
MTm.12574T>GCA414813823MT-ND5c.238T>G (p.Phe80Val)
MTm.12574T=CA2573329728MT-ND5c.238T= (p.Phe80=)
MTm.12575T>ACA414813825MT-ND5c.239T>A (p.Phe80Tyr)
MTm.12575T>CCA414813827MT-ND5c.239T>C (p.Phe80Ser)
MTm.12575T>GCA414813829MT-ND5c.239T>G (p.Phe80Cys)
MTm.12575T=CA2573329731MT-ND5c.239T= (p.Phe80=)
MTm.12576C>ACA414813831MT-ND5c.240C>A (p.Phe80Leu)
MTm.12576C=CA2573329734MT-ND5c.240C= (p.Phe80=)
MTm.12576C>GCA414813833MT-ND5c.240C>G (p.Phe80Leu)
MTm.12576C>TCA913170405MT-ND5c.240C>T (p.Phe80=)
MTm.12577A=CA2573329736MT-ND5c.241A= (p.Lys81=)
MTm.12577A>CCA414813835MT-ND5c.241A>C (p.Lys81Gln)
MTm.12577A>GCA414813837MT-ND5c.241A>G (p.Lys81Glu)
MTm.12577A>TCA414813839MT-ND5c.241A>T (p.Lys81Ter)
MTm.12578A=CA2573329739MT-ND5c.242A= (p.Lys81=)
MTm.12578A>CCA414813841MT-ND5c.242A>C (p.Lys81Thr)
MTm.12578A>GCA414813843MT-ND5c.242A>G (p.Lys81Arg)
MTm.12578A>TCA414813845MT-ND5c.242A>T (p.Lys81Ile)
MTm.12579A=CA2499567647MT-ND5c.243A= (p.Lys81=)
MTm.12579A>CCA414813847MT-ND5c.243A>C (p.Lys81Asn)
MTm.12579A>GCA337099506MT-ND5c.243A>G (p.Lys81=)
dbSNP
MTm.12579A>TCA414813850MT-ND5c.243A>T (p.Lys81Asn)
MTm.12580C>ACA414813853MT-ND5c.244C>A (p.Leu82Ile)
MTm.12580C=CA2573329740MT-ND5c.244C= (p.Leu82=)
MTm.12580C>GCA414813855MT-ND5c.244C>G (p.Leu82Val)
MTm.12580C>TCA913170406MT-ND5c.244C>T (p.Leu82=)
MTm.12581T>ACA414813859MT-ND5c.245T>A (p.Leu82Gln)
MTm.12581T>CCA414813861MT-ND5c.245T>C (p.Leu82Pro)
MTm.12581T>GCA414813857MT-ND5c.245T>G (p.Leu82Arg)
MTm.12581T=CA2573329742MT-ND5c.245T= (p.Leu82=)

Number of alleles fetched