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.8350_13450delCA915952048 ClinVar
MTm.8483_13459delCA645373336 ClinVar
MTm.8480_13440delCA915952050 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.13168C>ACA414816775MT-ND5c.832C>A (p.Leu278Ile)
MTm.13168C=CA2573323456MT-ND5c.832C= (p.Leu278=)
MTm.13168C>GCA414816777MT-ND5c.832C>G (p.Leu278Val)
MTm.13168C>TCA913170796MT-ND5c.832C>T (p.Leu278=)
dbSNP
MTm.13169T>ACA414816779MT-ND5c.833T>A (p.Leu278Gln)
MTm.13169T>CCA414816781MT-ND5c.833T>C (p.Leu278Pro)
MTm.13169T>GCA414816783MT-ND5c.833T>G (p.Leu278Arg)
MTm.13169T=CA2573323459MT-ND5c.833T= (p.Leu278=)
MTm.13170_13171delCA2573105253MT-ND5c.834_835del (p.Cys279LeufsTer18)
MTm.13170A=CA2573323462MT-ND5c.834A= (p.Leu278=)
MTm.13170A>CCA913170797MT-ND5c.834A>C (p.Leu278=)
MTm.13170A>GCA913170798MT-ND5c.834A>G (p.Leu278=)
MTm.13170A>TCA913170799MT-ND5c.834A>T (p.Leu278=)
MTm.13171T>ACA414816785MT-ND5c.835T>A (p.Cys279Ser)
MTm.13171T>CCA414816789MT-ND5c.835T>C (p.Cys279Arg)
MTm.13171T>GCA414816787MT-ND5c.835T>G (p.Cys279Gly)
MTm.13171T=CA2573323466MT-ND5c.835T= (p.Cys279=)
MTm.13172G>ACA414816791MT-ND5c.836G>A (p.Cys279Tyr)
MTm.13172G>CCA414816793MT-ND5c.836G>C (p.Cys279Ser)
MTm.13172G=CA2573323468MT-ND5c.836G= (p.Cys279=)
MTm.13172G>TCA414816795MT-ND5c.836G>T (p.Cys279Phe)
MTm.13173C>ACA414816797MT-ND5c.837C>A (p.Cys279Ter)
MTm.13173C=CA2499567891MT-ND5c.837C= (p.Cys279=)
MTm.13173C>GCA414816798MT-ND5c.837C>G (p.Cys279Trp)
MTm.13173C>TCA913170800MT-ND5c.837C>T (p.Cys279=)
dbSNP
MTm.13174T>ACA414816801MT-ND5c.838T>A (p.Leu280Ile)
MTm.13174T>CCA913170801MT-ND5c.838T>C (p.Leu280=)
dbSNP
MTm.13174T>GCA414816802MT-ND5c.838T>G (p.Leu280Val)
MTm.13174T=CA2499567892MT-ND5c.838T= (p.Leu280=)
MTm.13175T>ACA414816805MT-ND5c.839T>A (p.Leu280Ter)
MTm.13175T>CCA414816806MT-ND5c.839T>C (p.Leu280Ser)
dbSNP
MTm.13175T>GCA414816808MT-ND5c.839T>G (p.Leu280Ter)
MTm.13175T=CA2499567893MT-ND5c.839T= (p.Leu280=)
MTm.13176A=CA2573323476MT-ND5c.840A= (p.Leu280=)
MTm.13176A>CCA414816811MT-ND5c.840A>C (p.Leu280Phe)
MTm.13176A>GCA913170802MT-ND5c.840A>G (p.Leu280=)
MTm.13176A>TCA414816812MT-ND5c.840A>T (p.Leu280Phe)
MTm.13177G>ACA414816815MT-ND5c.841G>A (p.Gly281Ser)
MTm.13177G>CCA414816818MT-ND5c.841G>C (p.Gly281Arg)
MTm.13177G=CA2573323481MT-ND5c.841G= (p.Gly281=)
MTm.13177G>TCA414816817MT-ND5c.841G>T (p.Gly281Cys)
MTm.13178G>ACA414816821MT-ND5c.842G>A (p.Gly281Asp)
MTm.13178G>CCA414816822MT-ND5c.842G>C (p.Gly281Ala)
MTm.13178G=CA2573323484MT-ND5c.842G= (p.Gly281=)
MTm.13178G>TCA414816824MT-ND5c.842G>T (p.Gly281Val)
MTm.13179C>ACA913170805MT-ND5c.843C>A (p.Gly281=)
MTm.13179C=CA2499567894MT-ND5c.843C= (p.Gly281=)
MTm.13179C>GCA913170803MT-ND5c.843C>G (p.Gly281=)
MTm.13179C>TCA913170804MT-ND5c.843C>T (p.Gly281=)
dbSNP
MTm.13180G>ACA414816827MT-ND5c.844G>A (p.Ala282Thr)
MTm.13180G>CCA414816828MT-ND5c.844G>C (p.Ala282Pro)
MTm.13180G=CA2573323489MT-ND5c.844G= (p.Ala282=)
MTm.13180G>TCA414816830MT-ND5c.844G>T (p.Ala282Ser)
MTm.13181C>ACA414816833MT-ND5c.845C>A (p.Ala282Asp)
MTm.13181C=CA2573323494MT-ND5c.845C= (p.Ala282=)
MTm.13181C>GCA414816834MT-ND5c.845C>G (p.Ala282Gly)
MTm.13181C>TCA414816837MT-ND5c.845C>T (p.Ala282Val)
MTm.13182T>ACA913170806MT-ND5c.846T>A (p.Ala282=)
MTm.13182T>CCA913170807MT-ND5c.846T>C (p.Ala282=)
dbSNP
MTm.13182T>GCA913170808MT-ND5c.846T>G (p.Ala282=)
MTm.13182T=CA2499567895MT-ND5c.846T= (p.Ala282=)
MTm.13183A=CA2499567896MT-ND5c.847A= (p.Ile283=)
MTm.13183A>CCA414816842MT-ND5c.847A>C (p.Ile283Leu)
MTm.13183A>GCA337099647MT-ND5c.847A>G (p.Ile283Val)
ClinVar dbSNP
MTm.13183A>TCA414816839MT-ND5c.847A>T (p.Ile283Phe)
MTm.13184T>ACA414816845MT-ND5c.848T>A (p.Ile283Asn)
MTm.13184T>CCA414816848MT-ND5c.848T>C (p.Ile283Thr)
ClinVar dbSNP
MTm.13184T>GCA414816847MT-ND5c.848T>G (p.Ile283Ser)
MTm.13184T=CA2499567897MT-ND5c.848T= (p.Ile283=)
MTm.13185C>ACA913170809MT-ND5c.849C>A (p.Ile283=)
dbSNP
MTm.13185C=CA2499567898MT-ND5c.849C= (p.Ile283=)
MTm.13185C>GCA414816850MT-ND5c.849C>G (p.Ile283Met)
MTm.13185C>TCA913170810MT-ND5c.849C>T (p.Ile283=)
dbSNP
MTm.13186A=CA2499567899MT-ND5c.850A= (p.Thr284=)
MTm.13186A>CCA414816853MT-ND5c.850A>C (p.Thr284Pro)
MTm.13186A>GCA414816854MT-ND5c.850A>G (p.Thr284Ala)
MTm.13186A>TCA414816856MT-ND5c.850A>T (p.Thr284Ser)
dbSNP
MTm.13187C>ACA414816859MT-ND5c.851C>A (p.Thr284Asn)
MTm.13187C=CA2573323509MT-ND5c.851C= (p.Thr284=)
MTm.13187C>GCA414816860MT-ND5c.851C>G (p.Thr284Ser)
MTm.13187C>TCA414816862MT-ND5c.851C>T (p.Thr284Ile)
MTm.13188C>ACA913170811MT-ND5c.852C>A (p.Thr284=)
MTm.13188C=CA2499567900MT-ND5c.852C= (p.Thr284=)
MTm.13188C>GCA913170812MT-ND5c.852C>G (p.Thr284=)
MTm.13188C>TCA337099648MT-ND5c.852C>T (p.Thr284=)
dbSNP
MTm.13189A=CA2573323516MT-ND5c.853A= (p.Thr285=)
MTm.13189A>CCA414816866MT-ND5c.853A>C (p.Thr285Pro)
MTm.13189A>GCA414816868MT-ND5c.853A>G (p.Thr285Ala)
MTm.13189A>TCA414816869MT-ND5c.853A>T (p.Thr285Ser)
MTm.13190C>ACA414816875MT-ND5c.854C>A (p.Thr285Asn)
MTm.13190C=CA2573323517MT-ND5c.854C= (p.Thr285=)
MTm.13190C>GCA414816872MT-ND5c.854C>G (p.Thr285Ser)
MTm.13190C>TCA414816873MT-ND5c.854C>T (p.Thr285Ile)
MTm.13191T>ACA913170813MT-ND5c.855T>A (p.Thr285=)
MTm.13191T>CCA913170814MT-ND5c.855T>C (p.Thr285=)
dbSNP
MTm.13191T>GCA913170815MT-ND5c.855T>G (p.Thr285=)
MTm.13191T=CA2499567901MT-ND5c.855T= (p.Thr285=)
MTm.13192C>ACA414816878MT-ND5c.856C>A (p.Leu286Met)
MTm.13192C=CA2499567902MT-ND5c.856C= (p.Leu286=)
MTm.13192C>GCA414816879MT-ND5c.856C>G (p.Leu286Val)
MTm.13192C>TCA337099650MT-ND5c.856C>T (p.Leu286=)
dbSNP
MTm.13193T>ACA414816883MT-ND5c.857T>A (p.Leu286Gln)
MTm.13193T>CCA414816884MT-ND5c.857T>C (p.Leu286Pro)
MTm.13193T>GCA414816887MT-ND5c.857T>G (p.Leu286Arg)
MTm.13193T=CA2573323525MT-ND5c.857T= (p.Leu286=)
MTm.13194_13195delCA2573105254MT-ND5c.858_859del (p.Phe287ArgfsTer10)
MTm.13194G>ACA913170816MT-ND5c.858G>A (p.Leu286=)
dbSNP
MTm.13194G>CCA913170817MT-ND5c.858G>C (p.Leu286=)
dbSNP
MTm.13194G=CA2499567903MT-ND5c.858G= (p.Leu286=)
MTm.13194G>TCA913170818MT-ND5c.858G>T (p.Leu286=)
MTm.13195T>ACA414816889MT-ND5c.859T>A (p.Phe287Ile)
MTm.13195T>CCA414816891MT-ND5c.859T>C (p.Phe287Leu)
COSMIC
MTm.13195T>GCA414816893MT-ND5c.859T>G (p.Phe287Val)
MTm.13195T=CA2573323534MT-ND5c.859T= (p.Phe287=)
MTm.13196T>ACA414816899MT-ND5c.860T>A (p.Phe287Tyr)
MTm.13196T>CCA414816898MT-ND5c.860T>C (p.Phe287Ser)
MTm.13196T>GCA414816895MT-ND5c.860T>G (p.Phe287Cys)
MTm.13196T=CA2513074204MT-ND5c.860T= (p.Phe287=)
MTm.13197C>ACA414816901MT-ND5c.861C>A (p.Phe287Leu)
MTm.13197C=CA2499567904MT-ND5c.861C= (p.Phe287=)
MTm.13197C>GCA414816903MT-ND5c.861C>G (p.Phe287Leu)
MTm.13197C>TCA913170819MT-ND5c.861C>T (p.Phe287=)
dbSNP
MTm.13198G>ACA414816906MT-ND5c.862G>A (p.Ala288Thr)
ClinVar dbSNP
MTm.13198G>CCA414816907MT-ND5c.862G>C (p.Ala288Pro)
MTm.13198G=CA2499567905MT-ND5c.862G= (p.Ala288=)
MTm.13198G>TCA414816908MT-ND5c.862G>T (p.Ala288Ser)
dbSNP
MTm.13199C>ACA414816912MT-ND5c.863C>A (p.Ala288Glu)
MTm.13199C=CA2573323542MT-ND5c.863C= (p.Ala288=)
MTm.13199C>GCA414816913MT-ND5c.863C>G (p.Ala288Gly)
MTm.13199C>TCA414816915MT-ND5c.863C>T (p.Ala288Val)
MTm.13200A=CA2499567906MT-ND5c.864A= (p.Ala288=)
MTm.13200A>CCA913170820MT-ND5c.864A>C (p.Ala288=)
MTm.13200A>GCA913170822MT-ND5c.864A>G (p.Ala288=)
dbSNP
MTm.13200A>TCA913170821MT-ND5c.864A>T (p.Ala288=)
MTm.13201G>ACA414816917MT-ND5c.865G>A (p.Ala289Thr)
MTm.13201G>CCA414816919MT-ND5c.865G>C (p.Ala289Pro)
MTm.13201G=CA2573323547MT-ND5c.865G= (p.Ala289=)
MTm.13201G>TCA414816921MT-ND5c.865G>T (p.Ala289Ser)
MTm.13202C>ACA414816927MT-ND5c.866C>A (p.Ala289Glu)
MTm.13202C=CA2573323551MT-ND5c.866C= (p.Ala289=)
MTm.13202C>GCA414816924MT-ND5c.866C>G (p.Ala289Gly)
MTm.13202C>TCA414816923MT-ND5c.866C>T (p.Ala289Val)
MTm.13203A=CA2499567907MT-ND5c.867A= (p.Ala289=)
MTm.13203A>CCA913170824MT-ND5c.867A>C (p.Ala289=)
MTm.13203A>GCA337099651MT-ND5c.867A>G (p.Ala289=)
dbSNP COSMIC
MTm.13203A>TCA913170823MT-ND5c.867A>T (p.Ala289=)
MTm.13204G>ACA414816931MT-ND5c.868G>A (p.Val290Ile)
ClinVar dbSNP COSMIC
MTm.13204G>CCA414816932MT-ND5c.868G>C (p.Val290Leu)
ClinVar dbSNP
MTm.13204G=CA2499567908MT-ND5c.868G= (p.Val290=)
MTm.13204G>TCA414816934MT-ND5c.868G>T (p.Val290Phe)
MTm.13205T>ACA414816937MT-ND5c.869T>A (p.Val290Asp)
MTm.13205T>CCA414816938MT-ND5c.869T>C (p.Val290Ala)
MTm.13205T>GCA414816940MT-ND5c.869T>G (p.Val290Gly)
MTm.13205T=CA2573323561MT-ND5c.869T= (p.Val290=)
MTm.13206C>ACA913170826MT-ND5c.870C>A (p.Val290=)
MTm.13206C=CA2499567909MT-ND5c.870C= (p.Val290=)
MTm.13206C>GCA913170825MT-ND5c.870C>G (p.Val290=)
MTm.13206C>TCA337099652MT-ND5c.870C>T (p.Val290=)
dbSNP
MTm.13207T>ACA414816943MT-ND5c.871T>A (p.Cys291Ser)
MTm.13207T>CCA414816945MT-ND5c.871T>C (p.Cys291Arg)
MTm.13207T>GCA414816947MT-ND5c.871T>G (p.Cys291Gly)
MTm.13207T=CA2573323564MT-ND5c.871T= (p.Cys291=)
MTm.13208G>ACA414816953MT-ND5c.872G>A (p.Cys291Tyr)
MTm.13208G>CCA414816951MT-ND5c.872G>C (p.Cys291Ser)
dbSNP
MTm.13208G=CA2499567910MT-ND5c.872G= (p.Cys291=)
MTm.13208G>TCA414816949MT-ND5c.872G>T (p.Cys291Phe)
MTm.13209C>ACA414816955MT-ND5c.873C>A (p.Cys291Ter)
MTm.13209C=CA2499567911MT-ND5c.873C= (p.Cys291=)
MTm.13209C>GCA414816957MT-ND5c.873C>G (p.Cys291Trp)
MTm.13209C>TCA913170827MT-ND5c.873C>T (p.Cys291=)
dbSNP
MTm.13210G>ACA414816960MT-ND5c.874G>A (p.Ala292Thr)
dbSNP
MTm.13210G>CCA414816961MT-ND5c.874G>C (p.Ala292Pro)
MTm.13210G=CA2499567912MT-ND5c.874G= (p.Ala292=)
MTm.13210G>TCA414816963MT-ND5c.874G>T (p.Ala292Ser)
MTm.13211C>ACA414816966MT-ND5c.875C>A (p.Ala292Asp)
MTm.13211C=CA2573323573MT-ND5c.875C= (p.Ala292=)
MTm.13211C>GCA414816967MT-ND5c.875C>G (p.Ala292Gly)
MTm.13211C>TCA414816969MT-ND5c.875C>T (p.Ala292Val)
MTm.13212C>ACA913170828MT-ND5c.876C>A (p.Ala292=)
MTm.13212C=CA2499567913MT-ND5c.876C= (p.Ala292=)
MTm.13212C>GCA913170829MT-ND5c.876C>G (p.Ala292=)
MTm.13212C>TCA658653726MT-ND5c.876C>T (p.Ala292=)
ClinVar dbSNP
MTm.13213C>ACA414816972MT-ND5c.877C>A (p.Leu293Ile)
MTm.13213C=CA2573323581MT-ND5c.877C= (p.Leu293=)
MTm.13213C>GCA414816973MT-ND5c.877C>G (p.Leu293Val)
MTm.13213C>TCA414816974MT-ND5c.877C>T (p.Leu293Phe)
MTm.13214T>ACA414816977MT-ND5c.878T>A (p.Leu293His)
MTm.13214T>CCA414816978MT-ND5c.878T>C (p.Leu293Pro)
COSMIC
MTm.13214T>GCA414816980MT-ND5c.878T>G (p.Leu293Arg)
MTm.13214T=CA2573323585MT-ND5c.878T= (p.Leu293=)
MTm.13215T>ACA337099653MT-ND5c.879T>A (p.Leu293=)
MTm.13215T>CCA337099654MT-ND5c.879T>C (p.Leu293=)
dbSNP COSMIC
MTm.13215T>GCA337099655MT-ND5c.879T>G (p.Leu293=)
MTm.13215T=CA2499567914MT-ND5c.879T= (p.Leu293=)
MTm.13216A=CA2573323590MT-ND5c.880A= (p.Thr294=)
MTm.13216A>CCA414816987MT-ND5c.880A>C (p.Thr294Pro)
MTm.13216A>GCA414816988MT-ND5c.880A>G (p.Thr294Ala)
MTm.13216A>TCA414816991MT-ND5c.880A>T (p.Thr294Ser)
MTm.13217C>ACA414816993MT-ND5c.881C>A (p.Thr294Lys)
MTm.13217C=CA2573323593MT-ND5c.881C= (p.Thr294=)
MTm.13217C>GCA414816995MT-ND5c.881C>G (p.Thr294Arg)
MTm.13217C>TCA414816997MT-ND5c.881C>T (p.Thr294Ile)
MTm.13218A=CA2573323595MT-ND5c.882A= (p.Thr294=)
MTm.13218A>CCA913170830MT-ND5c.882A>C (p.Thr294=)
MTm.13218A>GCA913170831MT-ND5c.882A>G (p.Thr294=)
MTm.13218A>TCA913170832MT-ND5c.882A>T (p.Thr294=)
MTm.13219C>ACA414816999MT-ND5c.883C>A (p.Gln295Lys)
MTm.13219C=CA2573323599MT-ND5c.883C= (p.Gln295=)
MTm.13219C>GCA414817000MT-ND5c.883C>G (p.Gln295Glu)
MTm.13219C>TCA414817002MT-ND5c.883C>T (p.Gln295Ter)
MTm.13220A=CA2573323602MT-ND5c.884A= (p.Gln295=)
MTm.13220A>CCA414817005MT-ND5c.884A>C (p.Gln295Pro)
MTm.13220A>GCA414817006MT-ND5c.884A>G (p.Gln295Arg)
MTm.13220A>TCA414817008MT-ND5c.884A>T (p.Gln295Leu)
MTm.13221A=CA2499567915MT-ND5c.885A= (p.Gln295=)
MTm.13221A>CCA414817011MT-ND5c.885A>C (p.Gln295His)
MTm.13221A>GCA913170833MT-ND5c.885A>G (p.Gln295=)
dbSNP
MTm.13221A>TCA414817012MT-ND5c.885A>T (p.Gln295His)
MTm.13222A=CA2573323608MT-ND5c.886A= (p.Asn296=)
MTm.13222A>CCA414817015MT-ND5c.886A>C (p.Asn296His)
MTm.13222A>GCA414817017MT-ND5c.886A>G (p.Asn296Asp)
MTm.13222A>TCA414817018MT-ND5c.886A>T (p.Asn296Tyr)
MTm.13223A=CA2573323611MT-ND5c.887A= (p.Asn296=)
MTm.13223A>CCA414817021MT-ND5c.887A>C (p.Asn296Thr)
MTm.13223A>GCA414817022MT-ND5c.887A>G (p.Asn296Ser)
MTm.13223A>TCA414817024MT-ND5c.887A>T (p.Asn296Ile)
MTm.13224T>ACA414817026MT-ND5c.888T>A (p.Asn296Lys)
MTm.13224T>CCA913170834MT-ND5c.888T>C (p.Asn296=)
dbSNP
MTm.13224T>GCA414817028MT-ND5c.888T>G (p.Asn296Lys)
MTm.13224T=CA2499567916MT-ND5c.888T= (p.Asn296=)
MTm.13225G>ACA414817030MT-ND5c.889G>A (p.Asp297Asn)
ClinVar dbSNP
MTm.13225G>CCA414817031MT-ND5c.889G>C (p.Asp297His)
MTm.13225G=CA2499567917MT-ND5c.889G= (p.Asp297=)
MTm.13225G>TCA414817033MT-ND5c.889G>T (p.Asp297Tyr)
MTm.13226A=CA2573323619MT-ND5c.890A= (p.Asp297=)
MTm.13226A>CCA414817039MT-ND5c.890A>C (p.Asp297Ala)
MTm.13226A>GCA414817037MT-ND5c.890A>G (p.Asp297Gly)
MTm.13226A>TCA414817036MT-ND5c.890A>T (p.Asp297Val)
MTm.13227C>ACA414817041MT-ND5c.891C>A (p.Asp297Glu)
MTm.13227C=CA2499567918MT-ND5c.891C= (p.Asp297=)
MTm.13227C>GCA414817042MT-ND5c.891C>G (p.Asp297Glu)
MTm.13227C>TCA913170835MT-ND5c.891C>T (p.Asp297=)
dbSNP
MTm.13227_13228insTCA2573105262MT-ND5c.891_892insT (p.Ile298TyrfsTer?)
MTm.13227_13228insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTCA2573105265MT-ND5c.891_892insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGT (p.Ile298TyrfsTer19)
MTm.13227_13228insTACAGCAGTGTGTCAGTGTGCTGAGTGAAGTGTTTTCGTGTCA2573105264MT-ND5c.891_892insTACAGCAGTGTGTCAGTGTGCTGAGTGAAGTGTTTTCGTGT (p.Ile298TyrfsTer8)
MTm.13227_13228insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATCA2573105266MT-ND5c.891_892insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTAT (p.Ile298TyrfsTer?)
MTm.13227_13228insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTCA2573105263MT-ND5c.891_892insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACT (p.Ile298TyrfsTer?)
MTm.13227_13228insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCGTGTTCA2573105258MT-ND5c.891_892insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCGTGTT (p.Asp297_Ile298insTyrSerSerValSerValCysCysValLysCysPheArgValTyrAspTyrLeuArgVal)
MTm.13227_13228insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGTTCA2573105261MT-ND5c.891_892insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGTT (p.Asp297_Ile298insTyrSerSerValSerValCysCysValLysCysPheArgValTyrAspTyrLeuHisVal)
MTm.13227_13228insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGTTATCA2573105259MT-ND5c.891_892insTACAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGTTAT (p.Ile298TyrfsTer26)
MTm.13228A=CA2573323627MT-ND5c.892A= (p.Ile298=)
MTm.13228A>CCA414817046MT-ND5c.892A>C (p.Ile298Leu)
MTm.13228A>GCA414817047MT-ND5c.892A>G (p.Ile298Val)
MTm.13228A>TCA414817049MT-ND5c.892A>T (p.Ile298Phe)
MTm.13228_13229insCAGCAGTGTGCA2573105267MT-ND5c.892_893insCAGCAGTGTG (p.Ile298ThrfsTer?)
MTm.13228_13229insCAGCAGTGTGTCAGTGTGCTGTGTGTAGTGTTTCA2573105270MT-ND5c.892_893insCAGCAGTGTGTCAGTGTGCTGTGTGTAGTGTTT (p.Ile298delinsThrAlaValCysGlnCysAlaValCysSerValPhe)
MTm.13228_13229insCAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGTTATAGCCGTGTGCA2573105269MT-ND5c.892_893insCAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGTTATAGCCGTGTG (p.Ile298ThrfsTer9)
MTm.13228_13229insCAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGTTATAGCAGCGTGCA2573105268MT-ND5c.892_893insCAGCAGTGTGTCAGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGTTATAGCAGCGTG (p.Ile298ThrfsTer9)
MTm.13229T>ACA414817052MT-ND5c.893T>A (p.Ile298Asn)
MTm.13229T>CCA414817053MT-ND5c.893T>C (p.Ile298Thr)
MTm.13229T>GCA414817055MT-ND5c.893T>G (p.Ile298Ser)
MTm.13229T=CA2573323636MT-ND5c.893T= (p.Ile298=)
MTm.13229_13230insATGACTATTTGCATGTTATAGCA2573105271MT-ND5c.893_894insATGACTATTTGCATGTTATAG (p.Ile299Ter)
MTm.13229_13230insATGACTATTTGCATGTTATAGCAGCA2573105272MT-ND5c.893_894insATGACTATTTGCATGTTATAGCAG (p.Ile299Ter)
MTm.13230C>ACA913170837MT-ND5c.894C>A (p.Ile298=)
MTm.13230C=CA2573323642MT-ND5c.894C= (p.Ile298=)
MTm.13230C>GCA414817057MT-ND5c.894C>G (p.Ile298Met)
MTm.13230C>TCA913170836MT-ND5c.894C>T (p.Ile298=)
MTm.13231A=CA2573323647MT-ND5c.895A= (p.Lys299=)
MTm.13231A>CCA414817060MT-ND5c.895A>C (p.Lys299Gln)
MTm.13231A>GCA414817062MT-ND5c.895A>G (p.Lys299Glu)
MTm.13231A>TCA414817063MT-ND5c.895A>T (p.Lys299Ter)
MTm.13237dupCA2740098387MT-ND5c.901dup (p.Ile301AsnfsTer?)
MTm.13237delCA2573105273MT-ND5c.901del (p.Ile301SerfsTer2)
MTm.13231_13232insGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGGTCA2573105274MT-ND5c.895_896insGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGGT (p.Lys299SerfsTer11)
MTm.13232A=CA2573323651MT-ND5c.896A= (p.Lys299=)
MTm.13232A>CCA414817066MT-ND5c.896A>C (p.Lys299Thr)
MTm.13232A>GCA414817069MT-ND5c.896A>G (p.Lys299Arg)
MTm.13232A>TCA414817068MT-ND5c.896A>T (p.Lys299Ile)
MTm.13233A=CA2499567919MT-ND5c.897A= (p.Lys299=)
MTm.13233A>CCA414817072MT-ND5c.897A>C (p.Lys299Asn)
MTm.13233A>GCA913170838MT-ND5c.897A>G (p.Lys299=)
dbSNP
MTm.13233A>TCA414817074MT-ND5c.897A>T (p.Lys299Asn)
MTm.13234A=CA2499567920MT-ND5c.898A= (p.Lys300=)
MTm.13234A>CCA414817076MT-ND5c.898A>C (p.Lys300Gln)
MTm.13234A>GCA414817078MT-ND5c.898A>G (p.Lys300Glu)
dbSNP
MTm.13234A>TCA414817080MT-ND5c.898A>T (p.Lys300Ter)
MTm.13235A=CA2573323657MT-ND5c.899A= (p.Lys300=)
MTm.13235A>CCA414817082MT-ND5c.899A>C (p.Lys300Thr)
MTm.13235A>GCA414817084MT-ND5c.899A>G (p.Lys300Arg)
MTm.13235A>TCA414817085MT-ND5c.899A>T (p.Lys300Ile)
MTm.13235_13236insTCA2573105275MT-ND5c.899_900insT (p.Lys300AsnfsTer?)
MTm.13236A=CA2573323663MT-ND5c.900A= (p.Lys300=)
MTm.13236A>CCA414817087MT-ND5c.900A>C (p.Lys300Asn)
MTm.13236A>GCA913170839MT-ND5c.900A>G (p.Lys300=)
MTm.13236A>TCA414817089MT-ND5c.900A>T (p.Lys300Asn)
MTm.13237A=CA2573323666MT-ND5c.901A= (p.Ile301=)
MTm.13237A>CCA414817091MT-ND5c.901A>C (p.Ile301Leu)
MTm.13237A>GCA414817093MT-ND5c.901A>G (p.Ile301Val)
MTm.13237A>TCA414817095MT-ND5c.901A>T (p.Ile301Phe)
MTm.13238T>ACA414817100MT-ND5c.902T>A (p.Ile301Asn)
MTm.13238T>CCA414817097MT-ND5c.902T>C (p.Ile301Thr)
dbSNP
MTm.13238T>GCA414817098MT-ND5c.902T>G (p.Ile301Ser)
MTm.13238T=CA2499567921MT-ND5c.902T= (p.Ile301=)
MTm.13239C>ACA913170840MT-ND5c.903C>A (p.Ile301=)
MTm.13239C=CA2499567922MT-ND5c.903C= (p.Ile301=)
MTm.13239C>GCA414817102MT-ND5c.903C>G (p.Ile301Met)
MTm.13239C>TCA913170841MT-ND5c.903C>T (p.Ile301=)
dbSNP
MTm.13240G>ACA414817104MT-ND5c.904G>A (p.Val302Ile)
ClinVar dbSNP
MTm.13240G>CCA414817107MT-ND5c.904G>C (p.Val302Leu)
MTm.13240G=CA2499567923MT-ND5c.904G= (p.Val302=)
MTm.13240G>TCA414817108MT-ND5c.904G>T (p.Val302Leu)
MTm.13241T>ACA414817110MT-ND5c.905T>A (p.Val302Glu)
MTm.13241T>CCA414817112MT-ND5c.905T>C (p.Val302Ala)
MTm.13241T>GCA414817115MT-ND5c.905T>G (p.Val302Gly)
MTm.13241T=CA2573323674MT-ND5c.905T= (p.Val302=)
MTm.13241dupCA2573105277MT-ND5c.905dup (p.Ala303SerfsTer?)
MTm.13242A=CA2499567924MT-ND5c.906A= (p.Val302=)
MTm.13242A>CCA913170842MT-ND5c.906A>C (p.Val302=)
MTm.13242A>GCA913170843MT-ND5c.906A>G (p.Val302=)
dbSNP
MTm.13242A>TCA913170844MT-ND5c.906A>T (p.Val302=)
MTm.13243G>ACA414817117MT-ND5c.907G>A (p.Ala303Thr)
MTm.13243G>CCA414817119MT-ND5c.907G>C (p.Ala303Pro)
MTm.13243G=CA2573323682MT-ND5c.907G= (p.Ala303=)
MTm.13243G>TCA414817121MT-ND5c.907G>T (p.Ala303Ser)
MTm.13244C>ACA414817127MT-ND5c.908C>A (p.Ala303Asp)
MTm.13244C=CA2573323683MT-ND5c.908C= (p.Ala303=)
MTm.13244C>GCA414817125MT-ND5c.908C>G (p.Ala303Gly)
MTm.13244C>TCA414817124MT-ND5c.908C>T (p.Ala303Val)
MTm.13245C>ACA913170845MT-ND5c.909C>A (p.Ala303=)
MTm.13245C=CA2573323689MT-ND5c.909C= (p.Ala303=)
MTm.13245C>GCA913170846MT-ND5c.909C>G (p.Ala303=)
MTm.13245C>TCA913170847MT-ND5c.909C>T (p.Ala303=)
MTm.13246T>ACA414817129MT-ND5c.910T>A (p.Phe304Ile)
MTm.13246T>CCA414817131MT-ND5c.910T>C (p.Phe304Leu)
ClinVar dbSNP
MTm.13246T>GCA414817133MT-ND5c.910T>G (p.Phe304Val)
MTm.13246T=CA2499567925MT-ND5c.910T= (p.Phe304=)
MTm.13247T>ACA414817136MT-ND5c.911T>A (p.Phe304Tyr)
MTm.13247T>CCA414817137MT-ND5c.911T>C (p.Phe304Ser)
dbSNP
MTm.13247T>GCA414817138MT-ND5c.911T>G (p.Phe304Cys)
MTm.13247T=CA2499567926MT-ND5c.911T= (p.Phe304=)
MTm.13248C>ACA414817141MT-ND5c.912C>A (p.Phe304Leu)
MTm.13248C=CA2573323696MT-ND5c.912C= (p.Phe304=)
MTm.13248C>GCA414817143MT-ND5c.912C>G (p.Phe304Leu)
MTm.13248C>TCA913170848MT-ND5c.912C>T (p.Phe304=)
MTm.13249T>ACA414817145MT-ND5c.913T>A (p.Ser305Thr)
MTm.13249T>CCA414817147MT-ND5c.913T>C (p.Ser305Pro)
MTm.13249T>GCA414817149MT-ND5c.913T>G (p.Ser305Ala)
MTm.13249T=CA2573323701MT-ND5c.913T= (p.Ser305=)
MTm.13250C>ACA414817155MT-ND5c.914C>A (p.Ser305Tyr)
MTm.13250C=CA2573323703MT-ND5c.914C= (p.Ser305=)
MTm.13250C>GCA414817153MT-ND5c.914C>G (p.Ser305Cys)
MTm.13250C>TCA414817151MT-ND5c.914C>T (p.Ser305Phe)
MTm.13251C>ACA913170850MT-ND5c.915C>A (p.Ser305=)
MTm.13251C=CA2499567927MT-ND5c.915C= (p.Ser305=)
MTm.13251C>GCA913170849MT-ND5c.915C>G (p.Ser305=)
MTm.13251C>TCA337099656MT-ND5c.915C>T (p.Ser305=)
dbSNP
MTm.13252A=CA2573323711MT-ND5c.916A= (p.Thr306=)
MTm.13252A>CCA414817158MT-ND5c.916A>C (p.Thr306Pro)
MTm.13252A>GCA414817160MT-ND5c.916A>G (p.Thr306Ala)
MTm.13252A>TCA414817161MT-ND5c.916A>T (p.Thr306Ser)
MTm.13253C>ACA414817164MT-ND5c.917C>A (p.Thr306Asn)
MTm.13253C=CA2513127121MT-ND5c.917C= (p.Thr306=)
MTm.13253C>GCA414817166MT-ND5c.917C>G (p.Thr306Ser)
MTm.13253C>TCA414817168MT-ND5c.917C>T (p.Thr306Ile)
MTm.13254T>ACA913170851MT-ND5c.918T>A (p.Thr306=)
MTm.13254T>CCA337099657MT-ND5c.918T>C (p.Thr306=)
dbSNP
MTm.13254T>GCA913170852MT-ND5c.918T>G (p.Thr306=)
MTm.13254T=CA2499567928MT-ND5c.918T= (p.Thr306=)
MTm.13255T>ACA414817171MT-ND5c.919T>A (p.Ser307Thr)
MTm.13255T>CCA414817173MT-ND5c.919T>C (p.Ser307Pro)
dbSNP
MTm.13255T>GCA414817175MT-ND5c.919T>G (p.Ser307Ala)
MTm.13255T=CA2499567929MT-ND5c.919T= (p.Ser307=)
MTm.13256C>ACA414817181MT-ND5c.920C>A (p.Ser307Ter)
MTm.13256C=CA2573323721MT-ND5c.920C= (p.Ser307=)
MTm.13256C>GCA414817179MT-ND5c.920C>G (p.Ser307Ter)
MTm.13256C>TCA414817177MT-ND5c.920C>T (p.Ser307Leu)
MTm.13257A=CA2573323724MT-ND5c.921A= (p.Ser307=)
MTm.13257A>CCA913170853MT-ND5c.921A>C (p.Ser307=)
MTm.13257A>GCA913170854MT-ND5c.921A>G (p.Ser307=)
MTm.13257A>TCA913170855MT-ND5c.921A>T (p.Ser307=)
MTm.13258A=CA2573323730MT-ND5c.922A= (p.Ser308=)
MTm.13258A>CCA414817183MT-ND5c.922A>C (p.Ser308Arg)
MTm.13258A>GCA414817185MT-ND5c.922A>G (p.Ser308Gly)
MTm.13258A>TCA414817186MT-ND5c.922A>T (p.Ser308Cys)
MTm.13259G>ACA414817189MT-ND5c.923G>A (p.Ser308Asn)
MTm.13259G>CCA414817191MT-ND5c.923G>C (p.Ser308Thr)
MTm.13259G=CA2573323737MT-ND5c.923G= (p.Ser308=)
MTm.13259G>TCA414817192MT-ND5c.923G>T (p.Ser308Ile)
MTm.13260T>ACA414817197MT-ND5c.924T>A (p.Ser308Arg)
MTm.13260T>CCA913170856MT-ND5c.924T>C (p.Ser308=)
dbSNP
MTm.13260T>GCA414817195MT-ND5c.924T>G (p.Ser308Arg)
MTm.13260T=CA2499567930MT-ND5c.924T= (p.Ser308=)
MTm.13261C>ACA414817199MT-ND5c.925C>A (p.Gln309Lys)
MTm.13261C=CA2573323759MT-ND5c.925C= (p.Gln309=)
MTm.13261C>GCA414817201MT-ND5c.925C>G (p.Gln309Glu)
MTm.13261C>TCA414817202MT-ND5c.925C>T (p.Gln309Ter)
MTm.13262A=CA2573323762MT-ND5c.926A= (p.Gln309=)
MTm.13262A>CCA414817205MT-ND5c.926A>C (p.Gln309Pro)
MTm.13262A>GCA414817207MT-ND5c.926A>G (p.Gln309Arg)
MTm.13262A>TCA414817208MT-ND5c.926A>T (p.Gln309Leu)
MTm.13263A=CA2499567931MT-ND5c.927A= (p.Gln309=)
MTm.13263A>CCA414817213MT-ND5c.927A>C (p.Gln309His)
MTm.13263A>GCA337099659MT-ND5c.927A>G (p.Gln309=)
dbSNP
MTm.13263A>TCA414817212MT-ND5c.927A>T (p.Gln309His)
MTm.13264C>ACA414817215MT-ND5c.928C>A (p.Leu310Ile)
MTm.13264C=CA2573323769MT-ND5c.928C= (p.Leu310=)
MTm.13264C>GCA414817217MT-ND5c.928C>G (p.Leu310Val)
MTm.13264C>TCA913170857MT-ND5c.928C>T (p.Leu310=)
MTm.13265T>ACA414817219MT-ND5c.929T>A (p.Leu310Gln)
MTm.13265T>CCA414817221MT-ND5c.929T>C (p.Leu310Pro)
MTm.13265T>GCA414817223MT-ND5c.929T>G (p.Leu310Arg)
MTm.13265T=CA2573323773MT-ND5c.929T= (p.Leu310=)
MTm.13266A=CA2573323776MT-ND5c.930A= (p.Leu310=)
MTm.13266A>CCA913170858MT-ND5c.930A>C (p.Leu310=)
MTm.13266A>GCA913170859MT-ND5c.930A>G (p.Leu310=)
MTm.13266A>TCA913170860MT-ND5c.930A>T (p.Leu310=)
MTm.13267G>ACA414817225MT-ND5c.931G>A (p.Gly311Arg)
MTm.13267G>CCA414817227MT-ND5c.931G>C (p.Gly311Arg)
MTm.13267G=CA2573323778MT-ND5c.931G= (p.Gly311=)
MTm.13267G>TCA414817229MT-ND5c.931G>T (p.Gly311Ter)
MTm.13268G>ACA414817231MT-ND5c.932G>A (p.Gly311Glu)
COSMIC
MTm.13268G>CCA414817233MT-ND5c.932G>C (p.Gly311Ala)
MTm.13268G=CA2513655509MT-ND5c.932G= (p.Gly311=)
MTm.13268G>TCA414817234MT-ND5c.932G>T (p.Gly311Val)

Number of alleles fetched