| 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.6416A= | CA2499564400 | MT-CO1 | c.513A= (p.Ile171=) | |
| MT | m.6416A>C | CA913181394 | MT-CO1 | c.513A>C (p.Ile171=) | |
| MT | m.6416A>G | CA414783838 | MT-CO1 | c.513A>G (p.Ile171Met) | dbSNP |
| MT | m.6416A>T | CA913181393 | MT-CO1 | c.513A>T (p.Ile171=) | |
| MT | m.6419del | CA2573104815 | MT-CO1 | c.516del (p.Lys172AsnfsTer5) | |
| MT | m.6417A= | CA2573324731 | MT-CO1 | c.514A= (p.Lys172=) | |
| MT | m.6417A>C | CA414783842 | MT-CO1 | c.514A>C (p.Lys172Gln) | |
| MT | m.6417A>G | CA414783844 | MT-CO1 | c.514A>G (p.Lys172Glu) | |
| MT | m.6417A>T | CA414783847 | MT-CO1 | c.514A>T (p.Lys172Ter) | |
| MT | m.6418A= | CA2573324733 | MT-CO1 | c.515A= (p.Lys172=) | |
| MT | m.6418A>C | CA414783851 | MT-CO1 | c.515A>C (p.Lys172Thr) | |
| MT | m.6418A>G | CA414783854 | MT-CO1 | c.515A>G (p.Lys172Arg) | |
| MT | m.6418A>T | CA414783856 | MT-CO1 | c.515A>T (p.Lys172Ile) | |
| MT | m.6419A= | CA2499564401 | MT-CO1 | c.516A= (p.Lys172=) | |
| MT | m.6419A>C | CA414783859 | MT-CO1 | c.516A>C (p.Lys172Asn) | dbSNP |
| MT | m.6419A>G | CA913181396 | MT-CO1 | c.516A>G (p.Lys172=) | |
| MT | m.6419A>T | CA414783861 | MT-CO1 | c.516A>T (p.Lys172Asn) | |
| MT | m.6420C>A | CA414783866 | MT-CO1 | c.517C>A (p.Pro173Thr) | ClinVar dbSNP |
| MT | m.6420C= | CA2499564402 | MT-CO1 | c.517C= (p.Pro173=) | |
| MT | m.6420C>G | CA414783869 | MT-CO1 | c.517C>G (p.Pro173Ala) | |
| MT | m.6420C>T | CA414783871 | MT-CO1 | c.517C>T (p.Pro173Ser) | |
| MT | m.6424dup | CA2573104816 | MT-CO1 | c.521dup (p.Ala175CysfsTer?) | |
| MT | m.6421C>A | CA414783879 | MT-CO1 | c.518C>A (p.Pro173His) | |
| MT | m.6421C= | CA2573324743 | MT-CO1 | c.518C= (p.Pro173=) | |
| MT | m.6421C>G | CA414783878 | MT-CO1 | c.518C>G (p.Pro173Arg) | |
| MT | m.6421C>T | CA414783875 | MT-CO1 | c.518C>T (p.Pro173Leu) | |
| MT | m.6422C>A | CA913181401 | MT-CO1 | c.519C>A (p.Pro173=) | |
| MT | m.6422C= | CA2499564404 | MT-CO1 | c.519C= (p.Pro173=) | |
| MT | m.6422C>G | CA913181400 | MT-CO1 | c.519C>G (p.Pro173=) | |
| MT | m.6422C>T | CA913181399 | MT-CO1 | c.519C>T (p.Pro173=) | dbSNP |
| MT | m.6423C>A | CA414783883 | MT-CO1 | c.520C>A (p.Pro174Thr) | |
| MT | m.6423C= | CA2573324746 | MT-CO1 | c.520C= (p.Pro174=) | |
| MT | m.6423C>G | CA414783885 | MT-CO1 | c.520C>G (p.Pro174Ala) | |
| MT | m.6423C>T | CA414783888 | MT-CO1 | c.520C>T (p.Pro174Ser) | |
| MT | m.6424C>A | CA414783889 | MT-CO1 | c.521C>A (p.Pro174His) | |
| MT | m.6424C= | CA2573324749 | MT-CO1 | c.521C= (p.Pro174=) | |
| MT | m.6424C>G | CA414783891 | MT-CO1 | c.521C>G (p.Pro174Arg) | |
| MT | m.6424C>T | CA414783895 | MT-CO1 | c.521C>T (p.Pro174Leu) | |
| MT | m.6425del | CA2573104817 | MT-CO1 | c.522del (p.Ala175ProfsTer2) | |
| MT | m.6425T>A | CA913181408 | MT-CO1 | c.522T>A (p.Pro174=) | |
| MT | m.6425T>C | CA913181407 | MT-CO1 | c.522T>C (p.Pro174=) | dbSNP |
| MT | m.6425T>G | CA913181403 | MT-CO1 | c.522T>G (p.Pro174=) | |
| MT | m.6425T= | CA2499564405 | MT-CO1 | c.522T= (p.Pro174=) | |
| MT | m.6426G>A | CA414783898 | MT-CO1 | c.523G>A (p.Ala175Thr) | dbSNP |
| MT | m.6426G>C | CA414783900 | MT-CO1 | c.523G>C (p.Ala175Pro) | |
| MT | m.6426G= | CA2573324754 | MT-CO1 | c.523G= (p.Ala175=) | |
| MT | m.6426G>T | CA414783904 | MT-CO1 | c.523G>T (p.Ala175Ser) | |
| MT | m.6427C>A | CA414783907 | MT-CO1 | c.524C>A (p.Ala175Asp) | |
| MT | m.6427C= | CA2573324756 | MT-CO1 | c.524C= (p.Ala175=) | |
| MT | m.6427C>G | CA414783909 | MT-CO1 | c.524C>G (p.Ala175Gly) | |
| MT | m.6427C>T | CA414783912 | MT-CO1 | c.524C>T (p.Ala175Val) | |
| MT | m.6428C>A | CA913181410 | MT-CO1 | c.525C>A (p.Ala175=) | |
| MT | m.6428C= | CA2499564408 | MT-CO1 | c.525C= (p.Ala175=) | |
| MT | m.6428C>G | CA913181412 | MT-CO1 | c.525C>G (p.Ala175=) | |
| MT | m.6428C>T | CA913181411 | MT-CO1 | c.525C>T (p.Ala175=) | dbSNP |
| MT | m.6429A= | CA2573324758 | MT-CO1 | c.526A= (p.Ile176=) | |
| MT | m.6429A>C | CA414783915 | MT-CO1 | c.526A>C (p.Ile176Leu) | |
| MT | m.6429A>G | CA414783920 | MT-CO1 | c.526A>G (p.Ile176Val) | |
| MT | m.6429A>T | CA414783918 | MT-CO1 | c.526A>T (p.Ile176Leu) | |
| MT | m.6429_6432del | CA2573104818 | MT-CO1 | c.526_529del (p.Ile176ProfsTer13) | |
| MT | m.6430T>A | CA414783923 | MT-CO1 | c.527T>A (p.Ile176Lys) | |
| MT | m.6430T>C | CA414783925 | MT-CO1 | c.527T>C (p.Ile176Thr) | dbSNP |
| MT | m.6430T>G | CA414783928 | MT-CO1 | c.527T>G (p.Ile176Arg) | |
| MT | m.6430T= | CA2499564409 | MT-CO1 | c.527T= (p.Ile176=) | |
| MT | m.6431A= | CA2573324762 | MT-CO1 | c.528A= (p.Ile176=) | |
| MT | m.6431A>C | CA913181414 | MT-CO1 | c.528A>C (p.Ile176=) | |
| MT | m.6431A>G | CA414783932 | MT-CO1 | c.528A>G (p.Ile176Met) | |
| MT | m.6431A>T | CA913181413 | MT-CO1 | c.528A>T (p.Ile176=) | |
| MT | m.6432A= | CA2573324765 | MT-CO1 | c.529A= (p.Thr177=) | |
| MT | m.6432A>C | CA414783935 | MT-CO1 | c.529A>C (p.Thr177Pro) | |
| MT | m.6432A>G | CA414783939 | MT-CO1 | c.529A>G (p.Thr177Ala) | |
| MT | m.6432A>T | CA414783940 | MT-CO1 | c.529A>T (p.Thr177Ser) | |
| MT | m.6433C>A | CA414783943 | MT-CO1 | c.530C>A (p.Thr177Asn) | |
| MT | m.6433C= | CA2573324768 | MT-CO1 | c.530C= (p.Thr177=) | |
| MT | m.6433C>G | CA414783946 | MT-CO1 | c.530C>G (p.Thr177Ser) | |
| MT | m.6433C>T | CA414783949 | MT-CO1 | c.530C>T (p.Thr177Ile) | |
| MT | m.6434C>A | CA913181419 | MT-CO1 | c.531C>A (p.Thr177=) | |
| MT | m.6434C= | CA2499564411 | MT-CO1 | c.531C= (p.Thr177=) | |
| MT | m.6434C>G | CA913181418 | MT-CO1 | c.531C>G (p.Thr177=) | |
| MT | m.6434C>T | CA913181417 | MT-CO1 | c.531C>T (p.Thr177=) | dbSNP |
| MT | m.6435C>A | CA414783958 | MT-CO1 | c.532C>A (p.Gln178Lys) | |
| MT | m.6435C= | CA2573324772 | MT-CO1 | c.532C= (p.Gln178=) | |
| MT | m.6435C>G | CA414783956 | MT-CO1 | c.532C>G (p.Gln178Glu) | |
| MT | m.6435C>T | CA414783952 | MT-CO1 | c.532C>T (p.Gln178Ter) | |
| MT | m.6436A= | CA2573324774 | MT-CO1 | c.533A= (p.Gln178=) | |
| MT | m.6436A>C | CA414783962 | MT-CO1 | c.533A>C (p.Gln178Pro) | |
| MT | m.6436A>G | CA414783965 | MT-CO1 | c.533A>G (p.Gln178Arg) | |
| MT | m.6436A>T | CA414783967 | MT-CO1 | c.533A>T (p.Gln178Leu) | |
| MT | m.6437A= | CA2499564412 | MT-CO1 | c.534A= (p.Gln178=) | |
| MT | m.6437A>C | CA414783972 | MT-CO1 | c.534A>C (p.Gln178His) | |
| MT | m.6437A>G | CA913181420 | MT-CO1 | c.534A>G (p.Gln178=) | dbSNP |
| MT | m.6437A>T | CA414783979 | MT-CO1 | c.534A>T (p.Gln178His) | |
| MT | m.6438T>A | CA414783983 | MT-CO1 | c.535T>A (p.Tyr179Asn) | |
| MT | m.6438T>C | CA414783985 | MT-CO1 | c.535T>C (p.Tyr179His) | |
| MT | m.6438T>G | CA414783988 | MT-CO1 | c.535T>G (p.Tyr179Asp) | |
| MT | m.6438T= | CA2573324777 | MT-CO1 | c.535T= (p.Tyr179=) | |
| MT | m.6439A= | CA2573324781 | MT-CO1 | c.536A= (p.Tyr179=) | |
| MT | m.6439A>C | CA414783993 | MT-CO1 | c.536A>C (p.Tyr179Ser) | |
| MT | m.6439A>G | CA414783995 | MT-CO1 | c.536A>G (p.Tyr179Cys) | |
| MT | m.6439A>T | CA414783997 | MT-CO1 | c.536A>T (p.Tyr179Phe) | |
| MT | m.6440C>A | CA414784000 | MT-CO1 | c.537C>A (p.Tyr179Ter) | |
| MT | m.6440C= | CA2573324784 | MT-CO1 | c.537C= (p.Tyr179=) | |
| MT | m.6440C>G | CA414784002 | MT-CO1 | c.537C>G (p.Tyr179Ter) | |
| MT | m.6440C>T | CA913181425 | MT-CO1 | c.537C>T (p.Tyr179=) | |
| MT | m.6441C>A | CA414784006 | MT-CO1 | c.538C>A (p.Gln180Lys) | |
| MT | m.6441C= | CA2573324785 | MT-CO1 | c.538C= (p.Gln180=) | |
| MT | m.6441C>G | CA414784012 | MT-CO1 | c.538C>G (p.Gln180Glu) | |
| MT | m.6441C>T | CA414784009 | MT-CO1 | c.538C>T (p.Gln180Ter) | |
| MT | m.6442A= | CA2573324786 | MT-CO1 | c.539A= (p.Gln180=) | |
| MT | m.6442A>C | CA414784015 | MT-CO1 | c.539A>C (p.Gln180Pro) | |
| MT | m.6442A>G | CA414784018 | MT-CO1 | c.539A>G (p.Gln180Arg) | |
| MT | m.6442A>T | CA414784020 | MT-CO1 | c.539A>T (p.Gln180Leu) | |
| MT | m.6443A= | CA2573324787 | MT-CO1 | c.540A= (p.Gln180=) | |
| MT | m.6443A>C | CA414784022 | MT-CO1 | c.540A>C (p.Gln180His) | |
| MT | m.6443A>G | CA913181427 | MT-CO1 | c.540A>G (p.Gln180=) | |
| MT | m.6443A>T | CA414784024 | MT-CO1 | c.540A>T (p.Gln180His) | |
| MT | m.6444A= | CA2499564414 | MT-CO1 | c.541A= (p.Thr181=) | |
| MT | m.6444A>C | CA414784028 | MT-CO1 | c.541A>C (p.Thr181Pro) | |
| MT | m.6444A>G | CA414784032 | MT-CO1 | c.541A>G (p.Thr181Ala) | dbSNP |
| MT | m.6444A>T | CA414784033 | MT-CO1 | c.541A>T (p.Thr181Ser) | |
| MT | m.6445C>A | CA414784038 | MT-CO1 | c.542C>A (p.Thr181Lys) | |
| MT | m.6445C= | CA2499564415 | MT-CO1 | c.542C= (p.Thr181=) | |
| MT | m.6445C>G | CA414784041 | MT-CO1 | c.542C>G (p.Thr181Arg) | |
| MT | m.6445C>T | CA337097398 | MT-CO1 | c.542C>T (p.Thr181Met) | ClinVar dbSNP |
| MT | m.6446G>A | CA337097400 | MT-CO1 | c.543G>A (p.Thr181=) | ClinVar dbSNP |
| MT | m.6446G>C | CA337097402 | MT-CO1 | c.543G>C (p.Thr181=) | |
| MT | m.6446G= | CA2499564418 | MT-CO1 | c.543G= (p.Thr181=) | |
| MT | m.6446G>T | CA337097404 | MT-CO1 | c.543G>T (p.Thr181=) | dbSNP |
| MT | m.6447C>A | CA414784053 | MT-CO1 | c.544C>A (p.Pro182Thr) | |
| MT | m.6447C= | CA2573324797 | MT-CO1 | c.544C= (p.Pro182=) | |
| MT | m.6447C>G | CA414784055 | MT-CO1 | c.544C>G (p.Pro182Ala) | |
| MT | m.6447C>T | CA414784057 | MT-CO1 | c.544C>T (p.Pro182Ser) | |
| MT | m.6448C>A | CA414784061 | MT-CO1 | c.545C>A (p.Pro182His) | |
| MT | m.6448C= | CA2573324799 | MT-CO1 | c.545C= (p.Pro182=) | |
| MT | m.6448C>G | CA414784063 | MT-CO1 | c.545C>G (p.Pro182Arg) | |
| MT | m.6448C>T | CA414784066 | MT-CO1 | c.545C>T (p.Pro182Leu) | |
| MT | m.6449C>A | CA913181438 | MT-CO1 | c.546C>A (p.Pro182=) | |
| MT | m.6449C= | CA2499564420 | MT-CO1 | c.546C= (p.Pro182=) | |
| MT | m.6449C>G | CA913181439 | MT-CO1 | c.546C>G (p.Pro182=) | |
| MT | m.6449C>T | CA913181440 | MT-CO1 | c.546C>T (p.Pro182=) | dbSNP |
| MT | m.6450C>A | CA414784070 | MT-CO1 | c.547C>A (p.Leu183Ile) | |
| MT | m.6450C= | CA2573324802 | MT-CO1 | c.547C= (p.Leu183=) | |
| MT | m.6450C>G | CA414784072 | MT-CO1 | c.547C>G (p.Leu183Val) | |
| MT | m.6450C>T | CA414784076 | MT-CO1 | c.547C>T (p.Leu183Phe) | |
| MT | m.6451T>A | CA414784081 | MT-CO1 | c.548T>A (p.Leu183His) | |
| MT | m.6451T>C | CA414784084 | MT-CO1 | c.548T>C (p.Leu183Pro) | dbSNP |
| MT | m.6451T>G | CA414784079 | MT-CO1 | c.548T>G (p.Leu183Arg) | |
| MT | m.6451T= | CA2573324805 | MT-CO1 | c.548T= (p.Leu183=) | |
| MT | m.6452C>A | CA913181446 | MT-CO1 | c.549C>A (p.Leu183=) | dbSNP |
| MT | m.6452C= | CA2499564421 | MT-CO1 | c.549C= (p.Leu183=) | |
| MT | m.6452C>G | CA913181444 | MT-CO1 | c.549C>G (p.Leu183=) | |
| MT | m.6452C>T | CA913181445 | MT-CO1 | c.549C>T (p.Leu183=) | dbSNP |
| MT | m.6453T>A | CA414784088 | MT-CO1 | c.550T>A (p.Phe184Ile) | |
| MT | m.6453T>C | CA414784091 | MT-CO1 | c.550T>C (p.Phe184Leu) | |
| MT | m.6453T>G | CA414784094 | MT-CO1 | c.550T>G (p.Phe184Val) | |
| MT | m.6453T= | CA2573324812 | MT-CO1 | c.550T= (p.Phe184=) | |
| MT | m.6454T>A | CA414784097 | MT-CO1 | c.551T>A (p.Phe184Tyr) | |
| MT | m.6454T>C | CA414784099 | MT-CO1 | c.551T>C (p.Phe184Ser) | |
| MT | m.6454T>G | CA414784101 | MT-CO1 | c.551T>G (p.Phe184Cys) | |
| MT | m.6454T= | CA2513178186 | MT-CO1 | c.551T= (p.Phe184=) | |
| MT | m.6455C>A | CA414784106 | MT-CO1 | c.552C>A (p.Phe184Leu) | |
| MT | m.6455C= | CA2499564423 | MT-CO1 | c.552C= (p.Phe184=) | |
| MT | m.6455C>G | CA414784108 | MT-CO1 | c.552C>G (p.Phe184Leu) | |
| MT | m.6455C>T | CA337097405 | MT-CO1 | c.552C>T (p.Phe184=) | dbSNP |
| MT | m.6456G>A | CA414784115 | MT-CO1 | c.553G>A (p.Val185Ile) | ClinVar dbSNP |
| MT | m.6456G>C | CA414784117 | MT-CO1 | c.553G>C (p.Val185Leu) | |
| MT | m.6456G= | CA2499564425 | MT-CO1 | c.553G= (p.Val185=) | |
| MT | m.6456G>T | CA414784120 | MT-CO1 | c.553G>T (p.Val185Phe) | |
| MT | m.6457T>A | CA414784129 | MT-CO1 | c.554T>A (p.Val185Asp) | |
| MT | m.6457T>C | CA414784123 | MT-CO1 | c.554T>C (p.Val185Ala) | |
| MT | m.6457T>G | CA414784126 | MT-CO1 | c.554T>G (p.Val185Gly) | |
| MT | m.6457T= | CA2573324825 | MT-CO1 | c.554T= (p.Val185=) | |
| MT | m.6458C>A | CA913181459 | MT-CO1 | c.555C>A (p.Val185=) | |
| MT | m.6458C= | CA2499564427 | MT-CO1 | c.555C= (p.Val185=) | |
| MT | m.6458C>G | CA913181460 | MT-CO1 | c.555C>G (p.Val185=) | |
| MT | m.6458C>T | CA913181461 | MT-CO1 | c.555C>T (p.Val185=) | dbSNP |
| MT | m.6459T>A | CA414784133 | MT-CO1 | c.556T>A (p.Ter186Arg) | |
| MT | m.6459T>C | CA414784136 | MT-CO1 | c.556T>C (p.Ter186Arg) | |
| MT | m.6459T>G | CA414784139 | MT-CO1 | c.556T>G (p.Ter186Gly) | |
| MT | m.6459T= | CA414784141 | MT-CO1 | c.556T= (p.Ter186=) | |
| MT | m.6460G>A | CA414784145 | MT-CO1 | c.557G>A (p.Ter186=) | |
| MT | m.6460G>C | CA414784148 | MT-CO1 | c.557G>C (p.Ter186Ser) | |
| MT | m.6460G= | CA414784150 | MT-CO1 | c.557G= (p.Ter186=) | |
| MT | m.6460G>T | CA414784153 | MT-CO1 | c.557G>T (p.Ter186Leu) | |
| MT | m.6461A= | CA414784155 | MT-CO1 | c.558A= (p.Ter186=) | |
| MT | m.6461A>C | CA337097407 | MT-CO1 | c.558A>C (p.Ter186Cys) | |
| MT | m.6461A>G | CA337097411 | MT-CO1 | c.558A>G (p.Ter186Trp) | dbSNP |
| MT | m.6461A>T | CA337097409 | MT-CO1 | c.558A>T (p.Ter186Cys) | |
| MT | m.6462T>A | CA414784161 | MT-CO1 | c.559T>A (p.Ser187Thr) | |
| MT | m.6462T>C | CA414784163 | MT-CO1 | c.559T>C (p.Ser187Pro) | |
| MT | m.6462T>G | CA414784158 | MT-CO1 | c.559T>G (p.Ser187Ala) | |
| MT | m.6462T= | CA2573324846 | MT-CO1 | c.559T= (p.Ser187=) | |
| MT | m.6463C>A | CA414784167 | MT-CO1 | c.560C>A (p.Ser187Tyr) | |
| MT | m.6463C= | CA2573324850 | MT-CO1 | c.560C= (p.Ser187=) | |
| MT | m.6463C>G | CA414784173 | MT-CO1 | c.560C>G (p.Ser187Cys) | |
| MT | m.6463C>T | CA414784170 | MT-CO1 | c.560C>T (p.Ser187Phe) | |
| MT | m.6464C>A | CA913181463 | MT-CO1 | c.561C>A (p.Ser187=) | dbSNP |
| MT | m.6464C= | CA2499564429 | MT-CO1 | c.561C= (p.Ser187=) | |
| MT | m.6464C>G | CA913181465 | MT-CO1 | c.561C>G (p.Ser187=) | |
| MT | m.6464C>T | CA913181467 | MT-CO1 | c.561C>T (p.Ser187=) | |
| MT | m.6465G>A | CA414784176 | MT-CO1 | c.562G>A (p.Val188Ile) | ClinVar dbSNP |
| MT | m.6465G>C | CA337097413 | MT-CO1 | c.562G>C (p.Val188Leu) | dbSNP |
| MT | m.6465G= | CA2499564431 | MT-CO1 | c.562G= (p.Val188=) | |
| MT | m.6465G>T | CA337097415 | MT-CO1 | c.562G>T (p.Val188Phe) | |
| MT | m.6466T>A | CA414784184 | MT-CO1 | c.563T>A (p.Val188Asp) | |
| MT | m.6466T>C | CA414784189 | MT-CO1 | c.563T>C (p.Val188Ala) | dbSNP |
| MT | m.6466T>G | CA414784186 | MT-CO1 | c.563T>G (p.Val188Gly) | |
| MT | m.6466T= | CA2499564435 | MT-CO1 | c.563T= (p.Val188=) | |
| MT | m.6467C>A | CA913181471 | MT-CO1 | c.564C>A (p.Val188=) | dbSNP |
| MT | m.6467C= | CA2499564437 | MT-CO1 | c.564C= (p.Val188=) | |
| MT | m.6467C>G | CA913181472 | MT-CO1 | c.564C>G (p.Val188=) | |
| MT | m.6467C>T | CA913181473 | MT-CO1 | c.564C>T (p.Val188=) | dbSNP |
| MT | m.6468C>A | CA414784191 | MT-CO1 | c.565C>A (p.Leu189Ile) | |
| MT | m.6468C= | CA2499564439 | MT-CO1 | c.565C= (p.Leu189=) | |
| MT | m.6468C>G | CA414784193 | MT-CO1 | c.565C>G (p.Leu189Val) | |
| MT | m.6468C>T | CA913181477 | MT-CO1 | c.565C>T (p.Leu189=) | dbSNP |
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.6469T>A | CA414784198 | MT-CO1 | c.566T>A (p.Leu189Gln) | |
| MT | m.6469T>C | CA414784200 | MT-CO1 | c.566T>C (p.Leu189Pro) | |
| MT | m.6469T>G | CA414784202 | MT-CO1 | c.566T>G (p.Leu189Arg) | |
| MT | m.6469T= | CA2573324863 | MT-CO1 | c.566T= (p.Leu189=) | |
| MT | m.6470A= | CA2499564442 | MT-CO1 | c.567A= (p.Leu189=) | |
| MT | m.6470A>C | CA913181481 | MT-CO1 | c.567A>C (p.Leu189=) | |
| MT | m.6470A>G | CA913181482 | MT-CO1 | c.567A>G (p.Leu189=) | dbSNP |
| MT | m.6470A>T | CA913181483 | MT-CO1 | c.567A>T (p.Leu189=) | |
| MT | m.6471A= | CA2499564444 | MT-CO1 | c.568A= (p.Ile190=) | |
| MT | m.6471A>C | CA414784205 | MT-CO1 | c.568A>C (p.Ile190Leu) | |
| MT | m.6471A>G | CA414784208 | MT-CO1 | c.568A>G (p.Ile190Val) | dbSNP |
| MT | m.6471A>T | CA414784211 | MT-CO1 | c.568A>T (p.Ile190Phe) | |
| MT | m.6472T>A | CA414784213 | MT-CO1 | c.569T>A (p.Ile190Asn) | |
| MT | m.6472T>C | CA414784217 | MT-CO1 | c.569T>C (p.Ile190Thr) | |
| MT | m.6472T>G | CA414784218 | MT-CO1 | c.569T>G (p.Ile190Ser) | |
| MT | m.6472T= | CA2513673040 | MT-CO1 | c.569T= (p.Ile190=) | |
| MT | m.6473C>A | CA913181486 | MT-CO1 | c.570C>A (p.Ile190=) | |
| MT | m.6473C= | CA2499564446 | MT-CO1 | c.570C= (p.Ile190=) | |
| MT | m.6473C>G | CA414784221 | MT-CO1 | c.570C>G (p.Ile190Met) | |
| MT | m.6473C>T | CA337097417 | MT-CO1 | c.570C>T (p.Ile190=) | dbSNP |
| MT | m.6474A= | CA2573324872 | MT-CO1 | c.571A= (p.Thr191=) | |
| MT | m.6474A>C | CA414784231 | MT-CO1 | c.571A>C (p.Thr191Pro) | |
| MT | m.6474A>G | CA414784226 | MT-CO1 | c.571A>G (p.Thr191Ala) | |
| MT | m.6474A>T | CA414784228 | MT-CO1 | c.571A>T (p.Thr191Ser) | |
| MT | m.6475C>A | CA414784234 | MT-CO1 | c.572C>A (p.Thr191Lys) | |
| MT | m.6475C= | CA2573324876 | MT-CO1 | c.572C= (p.Thr191=) | |
| MT | m.6475C>G | CA414784237 | MT-CO1 | c.572C>G (p.Thr191Arg) | |
| MT | m.6475C>T | CA414784240 | MT-CO1 | c.572C>T (p.Thr191Ile) | |
| MT | m.6476A= | CA2573324878 | MT-CO1 | c.573A= (p.Thr191=) | |
| MT | m.6476A>C | CA913181487 | MT-CO1 | c.573A>C (p.Thr191=) | |
| MT | m.6476A>G | CA913181488 | MT-CO1 | c.573A>G (p.Thr191=) | |
| MT | m.6476A>T | CA913181489 | MT-CO1 | c.573A>T (p.Thr191=) | |
| MT | m.6477G>A | CA414784243 | MT-CO1 | c.574G>A (p.Ala192Thr) | |
| MT | m.6477G>C | CA414784246 | MT-CO1 | c.574G>C (p.Ala192Pro) | |
| MT | m.6477G= | CA2573324881 | MT-CO1 | c.574G= (p.Ala192=) | |
| MT | m.6477G>T | CA414784248 | MT-CO1 | c.574G>T (p.Ala192Ser) | |
| MT | m.6478C>A | CA414784252 | MT-CO1 | c.575C>A (p.Ala192Glu) | |
| MT | m.6478C= | CA2573324884 | MT-CO1 | c.575C= (p.Ala192=) | |
| MT | m.6478C>G | CA414784259 | MT-CO1 | c.575C>G (p.Ala192Gly) | |
| MT | m.6478C>T | CA414784262 | MT-CO1 | c.575C>T (p.Ala192Val) | |
| MT | m.6479A= | CA2513023273 | MT-CO1 | c.576A= (p.Ala192=) | |
| MT | m.6479A>C | CA913181490 | MT-CO1 | c.576A>C (p.Ala192=) | |
| MT | m.6479A>G | CA913181491 | MT-CO1 | c.576A>G (p.Ala192=) | |
| MT | m.6479A>T | CA913181492 | MT-CO1 | c.576A>T (p.Ala192=) | |
| MT | m.6479_6481del | CA2739234806 | MT-CO1 | c.576_578del (p.Val193del) | dbSNP |
| MT | m.6480G>A | CA120611 | MT-CO1 | c.577G>A (p.Val193Ile) | ClinVar dbSNP |
| MT | m.6480G>C | CA414784269 | MT-CO1 | c.577G>C (p.Val193Leu) | |
| MT | m.6480G= | CA2499564448 | MT-CO1 | c.577G= (p.Val193=) | |
| MT | m.6480G>T | CA414784266 | MT-CO1 | c.577G>T (p.Val193Phe) | |
| MT | m.6481T>A | CA414784274 | MT-CO1 | c.578T>A (p.Val193Asp) | |
| MT | m.6481T>C | CA337097420 | MT-CO1 | c.578T>C (p.Val193Ala) | ClinVar dbSNP |
| MT | m.6481T>G | CA414784277 | MT-CO1 | c.578T>G (p.Val193Gly) | |
| MT | m.6481T= | CA2499564450 | MT-CO1 | c.578T= (p.Val193=) | |
| MT | m.6482C>A | CA913181493 | MT-CO1 | c.579C>A (p.Val193=) | |
| MT | m.6482C= | CA2499564452 | MT-CO1 | c.579C= (p.Val193=) | |
| MT | m.6482C>G | CA913181495 | MT-CO1 | c.579C>G (p.Val193=) | |
| MT | m.6482C>T | CA337097422 | MT-CO1 | c.579C>T (p.Val193=) | dbSNP |
| MT | m.6483C>A | CA414784282 | MT-CO1 | c.580C>A (p.Leu194Ile) | |
| MT | m.6483C= | CA2499564454 | MT-CO1 | c.580C= (p.Leu194=) | |
| MT | m.6483C>G | CA414784285 | MT-CO1 | c.580C>G (p.Leu194Val) | |
| MT | m.6483C>T | CA913181496 | MT-CO1 | c.580C>T (p.Leu194=) | dbSNP |
| MT | m.6484T>A | CA414784289 | MT-CO1 | c.581T>A (p.Leu194Gln) | |
| MT | m.6484T>C | CA414784291 | MT-CO1 | c.581T>C (p.Leu194Pro) | |
| MT | m.6484T>G | CA414784292 | MT-CO1 | c.581T>G (p.Leu194Arg) | |
| MT | m.6484T= | CA2573324897 | MT-CO1 | c.581T= (p.Leu194=) | |
| MT | m.6485A= | CA2499564455 | MT-CO1 | c.582A= (p.Leu194=) | |
| MT | m.6485A>C | CA913181499 | MT-CO1 | c.582A>C (p.Leu194=) | |
| MT | m.6485A>G | CA913181497 | MT-CO1 | c.582A>G (p.Leu194=) | dbSNP |
| MT | m.6485A>T | CA913181498 | MT-CO1 | c.582A>T (p.Leu194=) | |
| MT | m.6486C>A | CA414784295 | MT-CO1 | c.583C>A (p.Leu195Ile) | |
| MT | m.6486C= | CA2573324901 | MT-CO1 | c.583C= (p.Leu195=) | |
| MT | m.6486C>G | CA414784298 | MT-CO1 | c.583C>G (p.Leu195Val) | |
| MT | m.6486C>T | CA414784301 | MT-CO1 | c.583C>T (p.Leu195Phe) | |
| MT | m.6487T>A | CA414784304 | MT-CO1 | c.584T>A (p.Leu195His) | |
| MT | m.6487T>C | CA414784319 | MT-CO1 | c.584T>C (p.Leu195Pro) | |
| MT | m.6487T>G | CA414784307 | MT-CO1 | c.584T>G (p.Leu195Arg) | |
| MT | m.6487T= | CA2573324904 | MT-CO1 | c.584T= (p.Leu195=) | |
| MT | m.6488T>A | CA913181502 | MT-CO1 | c.585T>A (p.Leu195=) | |
| MT | m.6488T>C | CA913181503 | MT-CO1 | c.585T>C (p.Leu195=) | dbSNP |
| MT | m.6488T>G | CA913181501 | MT-CO1 | c.585T>G (p.Leu195=) | |
| MT | m.6488T= | CA2499564457 | MT-CO1 | c.585T= (p.Leu195=) | |
| MT | m.6489C>A | CA120614 | MT-CO1 | c.586C>A (p.Leu196Ile) | ClinVar dbSNP |
| MT | m.6489C= | CA2499564458 | MT-CO1 | c.586C= (p.Leu196=) | |
| MT | m.6489C>G | CA337097425 | MT-CO1 | c.586C>G (p.Leu196Val) | dbSNP |
| MT | m.6489C>T | CA414784323 | MT-CO1 | c.586C>T (p.Leu196Phe) | |
| MT | m.6490T>A | CA414784326 | MT-CO1 | c.587T>A (p.Leu196His) | |
| MT | m.6490T>C | CA414784329 | MT-CO1 | c.587T>C (p.Leu196Pro) | |
| MT | m.6490T>G | CA414784332 | MT-CO1 | c.587T>G (p.Leu196Arg) | |
| MT | m.6490T= | CA2573324915 | MT-CO1 | c.587T= (p.Leu196=) | |
| MT | m.6491C>A | CA913181504 | MT-CO1 | c.588C>A (p.Leu196=) | dbSNP |
| MT | m.6491C= | CA2499564460 | MT-CO1 | c.588C= (p.Leu196=) | |
| MT | m.6491C>G | CA913181505 | MT-CO1 | c.588C>G (p.Leu196=) | |
| MT | m.6491C>T | CA913181506 | MT-CO1 | c.588C>T (p.Leu196=) | |
| MT | m.6492C>A | CA414784335 | MT-CO1 | c.589C>A (p.Leu197Ile) | |
| MT | m.6492C= | CA2573324920 | MT-CO1 | c.589C= (p.Leu197=) | |
| MT | m.6492C>G | CA414784338 | MT-CO1 | c.589C>G (p.Leu197Val) | |
| MT | m.6492C>T | CA913181507 | MT-CO1 | c.589C>T (p.Leu197=) | |
| MT | m.6493T>A | CA414784347 | MT-CO1 | c.590T>A (p.Leu197Gln) | |
| MT | m.6493T>C | CA414784344 | MT-CO1 | c.590T>C (p.Leu197Pro) | |
| MT | m.6493T>G | CA414784341 | MT-CO1 | c.590T>G (p.Leu197Arg) | |
| MT | m.6493T= | CA2573324923 | MT-CO1 | c.590T= (p.Leu197=) | |
| MT | m.6493_6495dup | CA2739234881 | MT-CO1 | c.590_592dup (p.Leu197_Ser198insLeu) | dbSNP |
| MT | m.6494A= | CA2499564461 | MT-CO1 | c.591A= (p.Leu197=) | |
| MT | m.6494A>C | CA913181511 | MT-CO1 | c.591A>C (p.Leu197=) | |
| MT | m.6494A>G | CA337097427 | MT-CO1 | c.591A>G (p.Leu197=) | dbSNP |
| MT | m.6494A>T | CA913181512 | MT-CO1 | c.591A>T (p.Leu197=) | |
| MT | m.6495T>A | CA414784358 | MT-CO1 | c.592T>A (p.Ser198Thr) | |
| MT | m.6495T>C | CA414784359 | MT-CO1 | c.592T>C (p.Ser198Pro) | |
| MT | m.6495T>G | CA414784362 | MT-CO1 | c.592T>G (p.Ser198Ala) | |
| MT | m.6495T= | CA2573324928 | MT-CO1 | c.592T= (p.Ser198=) | |
| MT | m.6496C>A | CA414784366 | MT-CO1 | c.593C>A (p.Ser198Tyr) | COSMIC COSMIC |
| MT | m.6496C= | CA2573324929 | MT-CO1 | c.593C= (p.Ser198=) | |
| MT | m.6496C>G | CA414784368 | MT-CO1 | c.593C>G (p.Ser198Cys) | |
| MT | m.6496C>T | CA414784371 | MT-CO1 | c.593C>T (p.Ser198Phe) | |
| MT | m.6497T>A | CA913181516 | MT-CO1 | c.594T>A (p.Ser198=) | |
| MT | m.6497T>C | CA913181515 | MT-CO1 | c.594T>C (p.Ser198=) | ClinVar dbSNP |
| MT | m.6497T>G | CA913181517 | MT-CO1 | c.594T>G (p.Ser198=) | |
| MT | m.6497T= | CA2499564463 | MT-CO1 | c.594T= (p.Ser198=) | |
| MT | m.6498C>A | CA414784375 | MT-CO1 | c.595C>A (p.Leu199Ile) | |
| MT | m.6498C= | CA2573324930 | MT-CO1 | c.595C= (p.Leu199=) | |
| MT | m.6498C>G | CA414784378 | MT-CO1 | c.595C>G (p.Leu199Val) | |
| MT | m.6498C>T | CA414784385 | MT-CO1 | c.595C>T (p.Leu199Phe) | |
| MT | m.6499T>A | CA414784389 | MT-CO1 | c.596T>A (p.Leu199His) | |
| MT | m.6499T>C | CA414784392 | MT-CO1 | c.596T>C (p.Leu199Pro) | dbSNP |
| MT | m.6499T>G | CA414784394 | MT-CO1 | c.596T>G (p.Leu199Arg) | |
| MT | m.6499T= | CA2499564465 | MT-CO1 | c.596T= (p.Leu199=) | |
| MT | m.6500C>A | CA913181520 | MT-CO1 | c.597C>A (p.Leu199=) | |
| MT | m.6500C= | CA2499564466 | MT-CO1 | c.597C= (p.Leu199=) | |
| MT | m.6500C>G | CA913181519 | MT-CO1 | c.597C>G (p.Leu199=) | |
| MT | m.6500C>T | CA913181518 | MT-CO1 | c.597C>T (p.Leu199=) | dbSNP |
| MT | m.6501C>A | CA414784405 | MT-CO1 | c.598C>A (p.Pro200Thr) | |
| MT | m.6501C= | CA2573324933 | MT-CO1 | c.598C= (p.Pro200=) | |
| MT | m.6501C>G | CA414784400 | MT-CO1 | c.598C>G (p.Pro200Ala) | |
| MT | m.6501C>T | CA414784402 | MT-CO1 | c.598C>T (p.Pro200Ser) | |
| MT | m.6502C>A | CA414784409 | MT-CO1 | c.599C>A (p.Pro200Gln) | |
| MT | m.6502C= | CA2573324935 | MT-CO1 | c.599C= (p.Pro200=) | |
| MT | m.6502C>G | CA414784411 | MT-CO1 | c.599C>G (p.Pro200Arg) | |
| MT | m.6502C>T | CA414784414 | MT-CO1 | c.599C>T (p.Pro200Leu) | |
| MT | m.6503A= | CA2499564468 | MT-CO1 | c.600A= (p.Pro200=) | |
| MT | m.6503A>C | CA913181522 | MT-CO1 | c.600A>C (p.Pro200=) | dbSNP |
| MT | m.6503A>G | CA913181521 | MT-CO1 | c.600A>G (p.Pro200=) | |
| MT | m.6503A>T | CA913181523 | MT-CO1 | c.600A>T (p.Pro200=) | |
| MT | m.6504G>A | CA414784417 | MT-CO1 | c.601G>A (p.Val201Ile) | ClinVar dbSNP |
| MT | m.6504G>C | CA414784420 | MT-CO1 | c.601G>C (p.Val201Leu) | |
| MT | m.6504G= | CA2499564469 | MT-CO1 | c.601G= (p.Val201=) | |
| MT | m.6504G>T | CA414784422 | MT-CO1 | c.601G>T (p.Val201Phe) | |
| MT | m.6505T>A | CA414784425 | MT-CO1 | c.602T>A (p.Val201Asp) | |
| MT | m.6505T>C | CA337097429 | MT-CO1 | c.602T>C (p.Val201Ala) | ClinVar dbSNP |
| MT | m.6505T>G | CA414784429 | MT-CO1 | c.602T>G (p.Val201Gly) | |
| MT | m.6505T= | CA2499564472 | MT-CO1 | c.602T= (p.Val201=) | |
| MT | m.6506C>A | CA913181524 | MT-CO1 | c.603C>A (p.Val201=) | dbSNP |
| MT | m.6506C= | CA2499564474 | MT-CO1 | c.603C= (p.Val201=) | |
| MT | m.6506C>G | CA913181525 | MT-CO1 | c.603C>G (p.Val201=) | |
| MT | m.6506C>T | CA913181526 | MT-CO1 | c.603C>T (p.Val201=) | dbSNP |
| MT | m.6507C>A | CA414784433 | MT-CO1 | c.604C>A (p.Leu202Ile) | |
| MT | m.6507C= | CA2499564475 | MT-CO1 | c.604C= (p.Leu202=) | |
| MT | m.6507C>G | CA414784436 | MT-CO1 | c.604C>G (p.Leu202Val) | |
| MT | m.6507C>T | CA913181527 | MT-CO1 | c.604C>T (p.Leu202=) | dbSNP |
| MT | m.6508T>A | CA414784439 | MT-CO1 | c.605T>A (p.Leu202Gln) | |
| MT | m.6508T>C | CA414784444 | MT-CO1 | c.605T>C (p.Leu202Pro) | |
| MT | m.6508T>G | CA414784441 | MT-CO1 | c.605T>G (p.Leu202Arg) | |
| MT | m.6508T= | CA2573324945 | MT-CO1 | c.605T= (p.Leu202=) | |
| MT | m.6509A= | CA2573324946 | MT-CO1 | c.606A= (p.Leu202=) | |
| MT | m.6509A>C | CA913181533 | MT-CO1 | c.606A>C (p.Leu202=) | |
| MT | m.6509A>G | CA913181532 | MT-CO1 | c.606A>G (p.Leu202=) | |
| MT | m.6509A>T | CA913181531 | MT-CO1 | c.606A>T (p.Leu202=) | |
| MT | m.6510G>A | CA414784447 | MT-CO1 | c.607G>A (p.Ala203Thr) | ClinVar dbSNP |
| MT | m.6510G>C | CA414784449 | MT-CO1 | c.607G>C (p.Ala203Pro) | |
| MT | m.6510G= | CA2499564477 | MT-CO1 | c.607G= (p.Ala203=) | |
| MT | m.6510G>T | CA414784452 | MT-CO1 | c.607G>T (p.Ala203Ser) | |
| MT | m.6511C>A | CA414784455 | MT-CO1 | c.608C>A (p.Ala203Asp) | |
| MT | m.6511C= | CA2573324948 | MT-CO1 | c.608C= (p.Ala203=) | |
| MT | m.6511C>G | CA414784457 | MT-CO1 | c.608C>G (p.Ala203Gly) | |
| MT | m.6511C>T | CA414784461 | MT-CO1 | c.608C>T (p.Ala203Val) | |
| MT | m.6512T>A | CA913181537 | MT-CO1 | c.609T>A (p.Ala203=) | |
| MT | m.6512T>C | CA913181538 | MT-CO1 | c.609T>C (p.Ala203=) | dbSNP |
| MT | m.6512T>G | CA913181539 | MT-CO1 | c.609T>G (p.Ala203=) | |
| MT | m.6512T= | CA2499564479 | MT-CO1 | c.609T= (p.Ala203=) | |
| MT | m.6513G>A | CA414784465 | MT-CO1 | c.610G>A (p.Ala204Thr) | |
| MT | m.6513G>C | CA414784468 | MT-CO1 | c.610G>C (p.Ala204Pro) | |
| MT | m.6513G= | CA2573324951 | MT-CO1 | c.610G= (p.Ala204=) | |
| MT | m.6513G>T | CA414784470 | MT-CO1 | c.610G>T (p.Ala204Ser) | |
| MT | m.6514C>A | CA414784473 | MT-CO1 | c.611C>A (p.Ala204Asp) | |
| MT | m.6514C= | CA2573324952 | MT-CO1 | c.611C= (p.Ala204=) | |
| MT | m.6514C>G | CA414784476 | MT-CO1 | c.611C>G (p.Ala204Gly) | |
| MT | m.6514C>T | CA414784477 | MT-CO1 | c.611C>T (p.Ala204Val) | |
| MT | m.6515T>A | CA913181541 | MT-CO1 | c.612T>A (p.Ala204=) | dbSNP |
| MT | m.6515T>C | CA337097431 | MT-CO1 | c.612T>C (p.Ala204=) | dbSNP |
| MT | m.6515T>G | CA913181540 | MT-CO1 | c.612T>G (p.Ala204=) | dbSNP |
| MT | m.6515T= | CA2499564480 | MT-CO1 | c.612T= (p.Ala204=) | |
| MT | m.6516G>A | CA414784479 | MT-CO1 | c.613G>A (p.Gly205Ser) | |
| MT | m.6516G>C | CA414784481 | MT-CO1 | c.613G>C (p.Gly205Arg) | |
| MT | m.6516G= | CA2573324955 | MT-CO1 | c.613G= (p.Gly205=) | |
| MT | m.6516G>T | CA414784484 | MT-CO1 | c.613G>T (p.Gly205Cys) | |
| MT | m.6517_6518insGAAGGCTGAGGCAGGAGAATGGCGTGAACCCGCCAGG | CA2740098136 | MT-CO1 | c.614_615insGAAGGCTGAGGCAGGAGAATGGCGTGAACCCGCCAGG (p.Ile206LysfsTer?) |