UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8091G>A | CA414794995 | MT-CO2 | c.506G>A (p.Gly169Asp) | |
| MT | m.8091G>C | CA414794997 | MT-CO2 | c.506G>C (p.Gly169Ala) | |
| MT | m.8091G= | CA2573328742 | MT-CO2 | c.506G= (p.Gly169=) | |
| MT | m.8091G>T | CA414794998 | MT-CO2 | c.506G>T (p.Gly169Val) | |
| MT | m.8092C>A | CA913178594 | MT-CO2 | c.507C>A (p.Gly169=) | |
| MT | m.8092C= | CA2499565470 | MT-CO2 | c.507C= (p.Gly169=) | |
| MT | m.8092C>G | CA913178593 | MT-CO2 | c.507C>G (p.Gly169=) | |
| MT | m.8092C>T | CA337097792 | MT-CO2 | c.507C>T (p.Gly169=) | dbSNP |
| MT | m.8093T>A | CA414795001 | MT-CO2 | c.508T>A (p.Leu170Ile) | |
| MT | m.8093T>C | CA913178596 | MT-CO2 | c.508T>C (p.Leu170=) | dbSNP |
| MT | m.8093T>G | CA414795003 | MT-CO2 | c.508T>G (p.Leu170Val) | |
| MT | m.8093T= | CA2499565471 | MT-CO2 | c.508T= (p.Leu170=) | |
| MT | m.8094T>A | CA414795008 | MT-CO2 | c.509T>A (p.Leu170Ter) | |
| MT | m.8094T>C | CA414795007 | MT-CO2 | c.509T>C (p.Leu170Ser) | |
| MT | m.8094T>G | CA414795005 | MT-CO2 | c.509T>G (p.Leu170Ter) | |
| MT | m.8094T= | CA2573328747 | MT-CO2 | c.509T= (p.Leu170=) | |
| MT | m.8095A= | CA2499565472 | MT-CO2 | c.510A= (p.Leu170=) | |
| MT | m.8095A>C | CA414795010 | MT-CO2 | c.510A>C (p.Leu170Phe) | |
| MT | m.8095A>G | CA913178597 | MT-CO2 | c.510A>G (p.Leu170=) | dbSNP |
| MT | m.8095A>T | CA414795012 | MT-CO2 | c.510A>T (p.Leu170Phe) | |
| MT | m.8096A= | CA2573328753 | MT-CO2 | c.511A= (p.Lys171=) | |
| MT | m.8096A>C | CA414795013 | MT-CO2 | c.511A>C (p.Lys171Gln) | |
| MT | m.8096A>G | CA414795015 | MT-CO2 | c.511A>G (p.Lys171Glu) | |
| MT | m.8096A>T | CA414795017 | MT-CO2 | c.511A>T (p.Lys171Ter) | |
| MT | m.8097A= | CA2573328756 | MT-CO2 | c.512A= (p.Lys171=) | |
| MT | m.8097A>C | CA414795019 | MT-CO2 | c.512A>C (p.Lys171Thr) | |
| MT | m.8097A>G | CA414795020 | MT-CO2 | c.512A>G (p.Lys171Arg) | |
| MT | m.8097A>T | CA414795022 | MT-CO2 | c.512A>T (p.Lys171Ile) | |
| MT | m.8098A= | CA2499565473 | MT-CO2 | c.513A= (p.Lys171=) | |
| MT | m.8098A>C | CA414795025 | MT-CO2 | c.513A>C (p.Lys171Asn) | |
| MT | m.8098A>G | CA913178603 | MT-CO2 | c.513A>G (p.Lys171=) | dbSNP |
| MT | m.8098A>T | CA414795026 | MT-CO2 | c.513A>T (p.Lys171Asn) | |
| MT | m.8099A= | CA2573328757 | MT-CO2 | c.514A= (p.Thr172=) | |
| MT | m.8099A>C | CA414795029 | MT-CO2 | c.514A>C (p.Thr172Pro) | |
| MT | m.8099A>G | CA414795031 | MT-CO2 | c.514A>G (p.Thr172Ala) | |
| MT | m.8099A>T | CA414795032 | MT-CO2 | c.514A>T (p.Thr172Ser) | |
| MT | m.8100C>A | CA414795035 | MT-CO2 | c.515C>A (p.Thr172Lys) | |
| MT | m.8100C= | CA2573328759 | MT-CO2 | c.515C= (p.Thr172=) | |
| MT | m.8100C>G | CA414795038 | MT-CO2 | c.515C>G (p.Thr172Arg) | |
| MT | m.8100C>T | CA414795036 | MT-CO2 | c.515C>T (p.Thr172Ile) | |
| MT | m.8101A= | CA2573328762 | MT-CO2 | c.516A= (p.Thr172=) | |
| MT | m.8101A>C | CA913178609 | MT-CO2 | c.516A>C (p.Thr172=) | |
| MT | m.8101A>G | CA913178607 | MT-CO2 | c.516A>G (p.Thr172=) | dbSNP |
| MT | m.8101A>T | CA913178608 | MT-CO2 | c.516A>T (p.Thr172=) | |
| MT | m.8102G>A | CA414795040 | MT-CO2 | c.517G>A (p.Asp173Asn) | |
| MT | m.8102G>C | CA414795042 | MT-CO2 | c.517G>C (p.Asp173His) | |
| MT | m.8102G= | CA2573328763 | MT-CO2 | c.517G= (p.Asp173=) | |
| MT | m.8102G>T | CA414795043 | MT-CO2 | c.517G>T (p.Asp173Tyr) | |
| MT | m.8103A= | CA2573328764 | MT-CO2 | c.518A= (p.Asp173=) | |
| MT | m.8103A>C | CA414795045 | MT-CO2 | c.518A>C (p.Asp173Ala) | |
| MT | m.8103A>G | CA414795046 | MT-CO2 | c.518A>G (p.Asp173Gly) | |
| MT | m.8103A>T | CA414795048 | MT-CO2 | c.518A>T (p.Asp173Val) | |
| MT | m.8104T>A | CA414795050 | MT-CO2 | c.519T>A (p.Asp173Glu) | |
| MT | m.8104T>C | CA337097794 | MT-CO2 | c.519T>C (p.Asp173=) | dbSNP COSMIC |
| MT | m.8104T>G | CA414795053 | MT-CO2 | c.519T>G (p.Asp173Glu) | |
| MT | m.8104T= | CA2499565474 | MT-CO2 | c.519T= (p.Asp173=) | |
| MT | m.8105G>A | CA414795058 | MT-CO2 | c.520G>A (p.Ala174Thr) | |
| MT | m.8105G>C | CA414795055 | MT-CO2 | c.520G>C (p.Ala174Pro) | |
| MT | m.8105G= | CA2573328766 | MT-CO2 | c.520G= (p.Ala174=) | |
| MT | m.8105G>T | CA414795057 | MT-CO2 | c.520G>T (p.Ala174Ser) | |
| MT | m.8106C>A | CA414795060 | MT-CO2 | c.521C>A (p.Ala174Glu) | |
| MT | m.8106C= | CA2573328767 | MT-CO2 | c.521C= (p.Ala174=) | |
| MT | m.8106C>G | CA414795064 | MT-CO2 | c.521C>G (p.Ala174Gly) | |
| MT | m.8106C>T | CA414795062 | MT-CO2 | c.521C>T (p.Ala174Val) | |
| MT | m.8107A= | CA2499565475 | MT-CO2 | c.522A= (p.Ala174=) | |
| MT | m.8107A>C | CA913178615 | MT-CO2 | c.522A>C (p.Ala174=) | |
| MT | m.8107A>G | CA913178613 | MT-CO2 | c.522A>G (p.Ala174=) | dbSNP |
| MT | m.8107A>T | CA913178614 | MT-CO2 | c.522A>T (p.Ala174=) | |
| MT | m.8108A= | CA2499565476 | MT-CO2 | c.523A= (p.Ile175=) | |
| MT | m.8108A>C | CA414795066 | MT-CO2 | c.523A>C (p.Ile175Leu) | |
| MT | m.8108A>G | CA414795069 | MT-CO2 | c.523A>G (p.Ile175Val) | ClinVar dbSNP |
| MT | m.8108A>T | CA414795067 | MT-CO2 | c.523A>T (p.Ile175Phe) | |
| MT | m.8109T>A | CA414795071 | MT-CO2 | c.524T>A (p.Ile175Asn) | |
| MT | m.8109T>C | CA414795074 | MT-CO2 | c.524T>C (p.Ile175Thr) | |
| MT | m.8109T>G | CA414795072 | MT-CO2 | c.524T>G (p.Ile175Ser) | |
| MT | m.8109T= | CA2573328778 | MT-CO2 | c.524T= (p.Ile175=) | |
| MT | m.8110T>A | CA913178616 | MT-CO2 | c.525T>A (p.Ile175=) | |
| MT | m.8110T>C | CA337097796 | MT-CO2 | c.525T>C (p.Ile175=) | dbSNP |
| MT | m.8110T>G | CA414795076 | MT-CO2 | c.525T>G (p.Ile175Met) | |
| MT | m.8110T= | CA2499565477 | MT-CO2 | c.525T= (p.Ile175=) | |
| MT | m.8111C>A | CA414795078 | MT-CO2 | c.526C>A (p.Pro176Thr) | |
| MT | m.8111C= | CA2573328781 | MT-CO2 | c.526C= (p.Pro176=) | |
| MT | m.8111C>G | CA414795080 | MT-CO2 | c.526C>G (p.Pro176Ala) | |
| MT | m.8111C>T | CA414795082 | MT-CO2 | c.526C>T (p.Pro176Ser) | |
| MT | m.8112C>A | CA414795083 | MT-CO2 | c.527C>A (p.Pro176His) | |
| MT | m.8112C= | CA2573328784 | MT-CO2 | c.527C= (p.Pro176=) | |
| MT | m.8112C>G | CA414795087 | MT-CO2 | c.527C>G (p.Pro176Arg) | |
| MT | m.8112C>T | CA414795089 | MT-CO2 | c.527C>T (p.Pro176Leu) | |
| MT | m.8113C>A | CA913178619 | MT-CO2 | c.528C>A (p.Pro176=) | dbSNP |
| MT | m.8113C= | CA2499565478 | MT-CO2 | c.528C= (p.Pro176=) | |
| MT | m.8113C>G | CA913178617 | MT-CO2 | c.528C>G (p.Pro176=) | |
| MT | m.8113C>T | CA913178618 | MT-CO2 | c.528C>T (p.Pro176=) | |
| MT | m.8114G>A | CA414795095 | MT-CO2 | c.529G>A (p.Gly177Arg) | |
| MT | m.8114G>C | CA414795093 | MT-CO2 | c.529G>C (p.Gly177Arg) | |
| MT | m.8114G= | CA2573328788 | MT-CO2 | c.529G= (p.Gly177=) | |
| MT | m.8114G>T | CA414795091 | MT-CO2 | c.529G>T (p.Gly177Ter) | |
| MT | m.8115G>A | CA414795097 | MT-CO2 | c.530G>A (p.Gly177Glu) | COSMIC |
| MT | m.8115G>C | CA414795099 | MT-CO2 | c.530G>C (p.Gly177Ala) | |
| MT | m.8115G= | CA2513203590 | MT-CO2 | c.530G= (p.Gly177=) | |
| MT | m.8115G>T | CA414795101 | MT-CO2 | c.530G>T (p.Gly177Val) | |
| MT | m.8116A= | CA2499565479 | MT-CO2 | c.531A= (p.Gly177=) | |
| MT | m.8116A>C | CA913178625 | MT-CO2 | c.531A>C (p.Gly177=) | |
| MT | m.8116A>G | CA913178626 | MT-CO2 | c.531A>G (p.Gly177=) | dbSNP |
| MT | m.8116A>T | CA913178624 | MT-CO2 | c.531A>T (p.Gly177=) | |
| MT | m.8117C>A | CA414795103 | MT-CO2 | c.532C>A (p.Arg178Ser) | |
| MT | m.8117C= | CA2573328796 | MT-CO2 | c.532C= (p.Arg178=) | |
| MT | m.8117C>G | CA414795105 | MT-CO2 | c.532C>G (p.Arg178Gly) | |
| MT | m.8117C>T | CA414795107 | MT-CO2 | c.532C>T (p.Arg178Cys) | |
| MT | m.8118G>A | CA414795108 | MT-CO2 | c.533G>A (p.Arg178His) | |
| MT | m.8118G>C | CA414795110 | MT-CO2 | c.533G>C (p.Arg178Pro) | |
| MT | m.8118G= | CA2573328797 | MT-CO2 | c.533G= (p.Arg178=) | |
| MT | m.8118G>T | CA414795112 | MT-CO2 | c.533G>T (p.Arg178Leu) | |
| MT | m.8119T>A | CA913178629 | MT-CO2 | c.534T>A (p.Arg178=) | |
| MT | m.8119T>C | CA645611392 | MT-CO2 | c.534T>C (p.Arg178=) | dbSNP COSMIC |
| MT | m.8119T>G | CA913178630 | MT-CO2 | c.534T>G (p.Arg178=) | |
| MT | m.8119T= | CA2499565480 | MT-CO2 | c.534T= (p.Arg178=) | |
| MT | m.8120C>A | CA337097800 | MT-CO2 | c.535C>A (p.Leu179Ile) | dbSNP |
| MT | m.8120C= | CA2499565481 | MT-CO2 | c.535C= (p.Leu179=) | |
| MT | m.8120C>G | CA414795116 | MT-CO2 | c.535C>G (p.Leu179Val) | |
| MT | m.8120C>T | CA337097802 | MT-CO2 | c.535C>T (p.Leu179=) | |
| MT | m.8121T>A | CA414795118 | MT-CO2 | c.536T>A (p.Leu179Gln) | |
| MT | m.8121T>C | CA414795120 | MT-CO2 | c.536T>C (p.Leu179Pro) | |
| MT | m.8121T>G | CA414795121 | MT-CO2 | c.536T>G (p.Leu179Arg) | |
| MT | m.8121T= | CA2573328802 | MT-CO2 | c.536T= (p.Leu179=) | |
| MT | m.8122A= | CA2573328806 | MT-CO2 | c.537A= (p.Leu179=) | |
| MT | m.8122A>C | CA913178634 | MT-CO2 | c.537A>C (p.Leu179=) | |
| MT | m.8122A>G | CA913178635 | MT-CO2 | c.537A>G (p.Leu179=) | |
| MT | m.8122A>T | CA913178636 | MT-CO2 | c.537A>T (p.Leu179=) | |
| MT | m.8123A= | CA2573328808 | MT-CO2 | c.538A= (p.Asn180=) | |
| MT | m.8123A>C | CA414795124 | MT-CO2 | c.538A>C (p.Asn180His) | |
| MT | m.8123A>G | CA414795126 | MT-CO2 | c.538A>G (p.Asn180Asp) | |
| MT | m.8123A>T | CA414795127 | MT-CO2 | c.538A>T (p.Asn180Tyr) | |
| MT | m.8124A= | CA2573328810 | MT-CO2 | c.539A= (p.Asn180=) | |
| MT | m.8124A>C | CA414795130 | MT-CO2 | c.539A>C (p.Asn180Thr) | |
| MT | m.8124A>G | CA414795131 | MT-CO2 | c.539A>G (p.Asn180Ser) | |
| MT | m.8124A>T | CA414795133 | MT-CO2 | c.539A>T (p.Asn180Ile) | |
| MT | m.8125C>A | CA414795135 | MT-CO2 | c.540C>A (p.Asn180Lys) | |
| MT | m.8125C= | CA2499565482 | MT-CO2 | c.540C= (p.Asn180=) | |
| MT | m.8125C>G | CA414795137 | MT-CO2 | c.540C>G (p.Asn180Lys) | |
| MT | m.8125C>T | CA913178640 | MT-CO2 | c.540C>T (p.Asn180=) | dbSNP |
| MT | m.8126C>A | CA414795142 | MT-CO2 | c.541C>A (p.Gln181Lys) | |
| MT | m.8126C= | CA2573328816 | MT-CO2 | c.541C= (p.Gln181=) | |
| MT | m.8126C>G | CA414795139 | MT-CO2 | c.541C>G (p.Gln181Glu) | |
| MT | m.8126C>T | CA414795140 | MT-CO2 | c.541C>T (p.Gln181Ter) | |
| MT | m.8127A= | CA2573328818 | MT-CO2 | c.542A= (p.Gln181=) | |
| MT | m.8127A>C | CA414795145 | MT-CO2 | c.542A>C (p.Gln181Pro) | |
| MT | m.8127A>G | CA414795146 | MT-CO2 | c.542A>G (p.Gln181Arg) | |
| MT | m.8127A>T | CA414795147 | MT-CO2 | c.542A>T (p.Gln181Leu) | |
| MT | m.8128A= | CA2573328821 | MT-CO2 | c.543A= (p.Gln181=) | |
| MT | m.8128A>C | CA414795150 | MT-CO2 | c.543A>C (p.Gln181His) | |
| MT | m.8128A>G | CA913178641 | MT-CO2 | c.543A>G (p.Gln181=) | |
| MT | m.8128A>T | CA414795152 | MT-CO2 | c.543A>T (p.Gln181His) | |
| MT | m.8129A= | CA2573328823 | MT-CO2 | c.544A= (p.Thr182=) | |
| MT | m.8129A>C | CA414795153 | MT-CO2 | c.544A>C (p.Thr182Pro) | |
| MT | m.8129A>G | CA414795155 | MT-CO2 | c.544A>G (p.Thr182Ala) | |
| MT | m.8129A>T | CA414795157 | MT-CO2 | c.544A>T (p.Thr182Ser) | |
| MT | m.8130C>A | CA414795159 | MT-CO2 | c.545C>A (p.Thr182Asn) | |
| MT | m.8130C= | CA2499565483 | MT-CO2 | c.545C= (p.Thr182=) | |
| MT | m.8130C>G | CA414795160 | MT-CO2 | c.545C>G (p.Thr182Ser) | |
| MT | m.8130C>T | CA414795162 | MT-CO2 | c.545C>T (p.Thr182Ile) | dbSNP |
| MT | m.8131C>A | CA913178643 | MT-CO2 | c.546C>A (p.Thr182=) | |
| MT | m.8131C= | CA2499565484 | MT-CO2 | c.546C= (p.Thr182=) | |
| MT | m.8131C>G | CA913178642 | MT-CO2 | c.546C>G (p.Thr182=) | |
| MT | m.8131C>T | CA913178644 | MT-CO2 | c.546C>T (p.Thr182=) | dbSNP |
| MT | m.8132A= | CA2573328827 | MT-CO2 | c.547A= (p.Thr183=) | |
| MT | m.8132A>C | CA414795166 | MT-CO2 | c.547A>C (p.Thr183Pro) | |
| MT | m.8132A>G | CA414795168 | MT-CO2 | c.547A>G (p.Thr183Ala) | |
| MT | m.8132A>T | CA414795165 | MT-CO2 | c.547A>T (p.Thr183Ser) | |
| MT | m.8133C>A | CA414795170 | MT-CO2 | c.548C>A (p.Thr183Asn) | |
| MT | m.8133C= | CA2499565485 | MT-CO2 | c.548C= (p.Thr183=) | |
| MT | m.8133C>G | CA414795172 | MT-CO2 | c.548C>G (p.Thr183Ser) | |
| MT | m.8133C>T | CA337097804 | MT-CO2 | c.548C>T (p.Thr183Ile) | dbSNP |
| MT | m.8134T>A | CA913178649 | MT-CO2 | c.549T>A (p.Thr183=) | |
| MT | m.8134T>C | CA913178651 | MT-CO2 | c.549T>C (p.Thr183=) | dbSNP |
| MT | m.8134T>G | CA913178650 | MT-CO2 | c.549T>G (p.Thr183=) | |
| MT | m.8134T= | CA2499565486 | MT-CO2 | c.549T= (p.Thr183=) | |
| MT | m.8135T>A | CA414795175 | MT-CO2 | c.550T>A (p.Phe184Ile) | |
| MT | m.8135T>C | CA414795177 | MT-CO2 | c.550T>C (p.Phe184Leu) | ClinVar dbSNP |
| MT | m.8135T>G | CA414795179 | MT-CO2 | c.550T>G (p.Phe184Val) | |
| MT | m.8135T= | CA2499565487 | MT-CO2 | c.550T= (p.Phe184=) | |
| MT | m.8136T>A | CA414795181 | MT-CO2 | c.551T>A (p.Phe184Tyr) | |
| MT | m.8136T>C | CA414795183 | MT-CO2 | c.551T>C (p.Phe184Ser) | |
| MT | m.8136T>G | CA414795185 | MT-CO2 | c.551T>G (p.Phe184Cys) | |
| MT | m.8136T= | CA2513639971 | MT-CO2 | c.551T= (p.Phe184=) | |
| MT | m.8137C>A | CA414795187 | MT-CO2 | c.552C>A (p.Phe184Leu) | |
| MT | m.8137C= | CA2499565488 | MT-CO2 | c.552C= (p.Phe184=) | |
| MT | m.8137C>G | CA414795189 | MT-CO2 | c.552C>G (p.Phe184Leu) | |
| MT | m.8137C>T | CA337097806 | MT-CO2 | c.552C>T (p.Phe184=) | dbSNP |
| MT | m.8138A= | CA2573328838 | MT-CO2 | c.553A= (p.Thr185=) | |
| MT | m.8138A>C | CA414795196 | MT-CO2 | c.553A>C (p.Thr185Pro) | |
| MT | m.8138A>G | CA414795192 | MT-CO2 | c.553A>G (p.Thr185Ala) | |
| MT | m.8138A>T | CA414795194 | MT-CO2 | c.553A>T (p.Thr185Ser) | dbSNP |
| MT | m.8139C>A | CA414795198 | MT-CO2 | c.554C>A (p.Thr185Asn) | |
| MT | m.8139C= | CA2499565489 | MT-CO2 | c.554C= (p.Thr185=) | |
| MT | m.8139C>G | CA414795200 | MT-CO2 | c.554C>G (p.Thr185Ser) | |
| MT | m.8139C>T | CA414795202 | MT-CO2 | c.554C>T (p.Thr185Ile) | dbSNP |
| MT | m.8140C>A | CA913178655 | MT-CO2 | c.555C>A (p.Thr185=) | |
| MT | m.8140C= | CA2499565490 | MT-CO2 | c.555C= (p.Thr185=) | |
| MT | m.8140C>G | CA913178656 | MT-CO2 | c.555C>G (p.Thr185=) | |
| MT | m.8140C>T | CA913178654 | MT-CO2 | c.555C>T (p.Thr185=) | dbSNP |
| MT | m.8141G>A | CA414795204 | MT-CO2 | c.556G>A (p.Ala186Thr) | ClinVar dbSNP COSMIC |
| MT | m.8141G>C | CA414795206 | MT-CO2 | c.556G>C (p.Ala186Pro) | |
| MT | m.8141G= | CA2499565491 | MT-CO2 | c.556G= (p.Ala186=) | |
| MT | m.8141G>T | CA414795207 | MT-CO2 | c.556G>T (p.Ala186Ser) | |
| MT | m.8142C>A | CA414795209 | MT-CO2 | c.557C>A (p.Ala186Asp) | |
| MT | m.8142C= | CA2573328847 | MT-CO2 | c.557C= (p.Ala186=) | |
| MT | m.8142C>G | CA414795211 | MT-CO2 | c.557C>G (p.Ala186Gly) | |
| MT | m.8142C>T | CA414795213 | MT-CO2 | c.557C>T (p.Ala186Val) | |
| MT | m.8143T>A | CA913178657 | MT-CO2 | c.558T>A (p.Ala186=) | |
| MT | m.8143T>C | CA913178659 | MT-CO2 | c.558T>C (p.Ala186=) | dbSNP |
| MT | m.8143T>G | CA913178658 | MT-CO2 | c.558T>G (p.Ala186=) | |
| MT | m.8143T= | CA2499565492 | MT-CO2 | c.558T= (p.Ala186=) | |
| MT | m.8144A= | CA2573328851 | MT-CO2 | c.559A= (p.Thr187=) | |
| MT | m.8144A>C | CA414795215 | MT-CO2 | c.559A>C (p.Thr187Pro) | |
| MT | m.8144A>G | CA414795216 | MT-CO2 | c.559A>G (p.Thr187Ala) | |
| MT | m.8144A>T | CA414795218 | MT-CO2 | c.559A>T (p.Thr187Ser) | |
| MT | m.8145C>A | CA414795221 | MT-CO2 | c.560C>A (p.Thr187Lys) | |
| MT | m.8145C= | CA2573328853 | MT-CO2 | c.560C= (p.Thr187=) | |
| MT | m.8145C>G | CA414795224 | MT-CO2 | c.560C>G (p.Thr187Arg) | |
| MT | m.8145C>T | CA414795222 | MT-CO2 | c.560C>T (p.Thr187Ile) | |
| MT | m.8146A= | CA2499565493 | MT-CO2 | c.561A= (p.Thr187=) | |
| MT | m.8146A>C | CA913178665 | MT-CO2 | c.561A>C (p.Thr187=) | |
| MT | m.8146A>G | CA913178664 | MT-CO2 | c.561A>G (p.Thr187=) | dbSNP |
| MT | m.8146A>T | CA913178663 | MT-CO2 | c.561A>T (p.Thr187=) | |
| MT | m.8147C>A | CA913178666 | MT-CO2 | c.562C>A (p.Arg188=) | |
| MT | m.8147C= | CA2573328856 | MT-CO2 | c.562C= (p.Arg188=) | |
| MT | m.8147C>G | CA414795226 | MT-CO2 | c.562C>G (p.Arg188Gly) | |
| MT | m.8147C>T | CA414795228 | MT-CO2 | c.562C>T (p.Arg188Ter) | |
| MT | m.8148G>A | CA414795230 | MT-CO2 | c.563G>A (p.Arg188Gln) | |
| MT | m.8148G>C | CA414795232 | MT-CO2 | c.563G>C (p.Arg188Pro) | |
| MT | m.8148G= | CA2513171984 | MT-CO2 | c.563G= (p.Arg188=) | |
| MT | m.8148G>T | CA414795234 | MT-CO2 | c.563G>T (p.Arg188Leu) | |
| MT | m.8149A= | CA2499565494 | MT-CO2 | c.564A= (p.Arg188=) | |
| MT | m.8149A>C | CA337097810 | MT-CO2 | c.564A>C (p.Arg188=) | |
| MT | m.8149A>G | CA913178672 | MT-CO2 | c.564A>G (p.Arg188=) | dbSNP |
| MT | m.8149A>T | CA337097808 | MT-CO2 | c.564A>T (p.Arg188=) | |
| MT | m.8150C>A | CA414795238 | MT-CO2 | c.565C>A (p.Pro189Thr) | |
| MT | m.8150C= | CA2573328863 | MT-CO2 | c.565C= (p.Pro189=) | |
| MT | m.8150C>G | CA414795239 | MT-CO2 | c.565C>G (p.Pro189Ala) | |
| MT | m.8150C>T | CA414795241 | MT-CO2 | c.565C>T (p.Pro189Ser) | |
| MT | m.8151C>A | CA414795244 | MT-CO2 | c.566C>A (p.Pro189Gln) | |
| MT | m.8151C= | CA2573328866 | MT-CO2 | c.566C= (p.Pro189=) | |
| MT | m.8151C>G | CA414795245 | MT-CO2 | c.566C>G (p.Pro189Arg) | |
| MT | m.8151C>T | CA414795247 | MT-CO2 | c.566C>T (p.Pro189Leu) | |
| MT | m.8152G>A | CA913178678 | MT-CO2 | c.567G>A (p.Pro189=) | dbSNP |
| MT | m.8152G>C | CA913178677 | MT-CO2 | c.567G>C (p.Pro189=) | |
| MT | m.8152G= | CA2499565495 | MT-CO2 | c.567G= (p.Pro189=) | |
| MT | m.8152G>T | CA913178679 | MT-CO2 | c.567G>T (p.Pro189=) | |
| MT | m.8156dup | CA2573104888 | MT-CO2 | c.571dup (p.Val191GlyfsTer8) | |
| MT | m.8156del | CA1139771347 | MT-CO2 | c.571del (p.Val191TyrfsTer21) | ClinVar |
| MT | m.8153G>A | CA414795249 | MT-CO2 | c.568G>A (p.Gly190Arg) | |
| MT | m.8153G>C | CA414795252 | MT-CO2 | c.568G>C (p.Gly190Arg) | |
| MT | m.8153G= | CA2573328871 | MT-CO2 | c.568G= (p.Gly190=) | |
| MT | m.8153G>T | CA414795250 | MT-CO2 | c.568G>T (p.Gly190Trp) | |
| MT | m.8154G>A | CA414795255 | MT-CO2 | c.569G>A (p.Gly190Glu) | |
| MT | m.8154G>C | CA414795256 | MT-CO2 | c.569G>C (p.Gly190Ala) | |
| MT | m.8154G= | CA2573328872 | MT-CO2 | c.569G= (p.Gly190=) | |
| MT | m.8154G>T | CA414795258 | MT-CO2 | c.569G>T (p.Gly190Val) | |
| MT | m.8155G>A | CA337097811 | MT-CO2 | c.570G>A (p.Gly190=) | dbSNP COSMIC |
| MT | m.8155G>C | CA913178683 | MT-CO2 | c.570G>C (p.Gly190=) | |
| MT | m.8155G= | CA2499565496 | MT-CO2 | c.570G= (p.Gly190=) | |
| MT | m.8155G>T | CA913178682 | MT-CO2 | c.570G>T (p.Gly190=) | |
| MT | m.8156G>A | CA414795261 | MT-CO2 | c.571G>A (p.Val191Ile) | dbSNP COSMIC |
| MT | m.8156G>C | CA414795263 | MT-CO2 | c.571G>C (p.Val191Leu) | ClinVar dbSNP |
| MT | m.8156G= | CA2499565497 | MT-CO2 | c.571G= (p.Val191=) | |
| MT | m.8156G>T | CA414795265 | MT-CO2 | c.571G>T (p.Val191Leu) | |
| MT | m.8157T>A | CA414795267 | MT-CO2 | c.572T>A (p.Val191Glu) | |
| MT | m.8157T>C | CA414795268 | MT-CO2 | c.572T>C (p.Val191Ala) | |
| MT | m.8157T>G | CA414795270 | MT-CO2 | c.572T>G (p.Val191Gly) | |
| MT | m.8157T= | CA2573328880 | MT-CO2 | c.572T= (p.Val191=) | |
| MT | m.8158A= | CA2499565498 | MT-CO2 | c.573A= (p.Val191=) | |
| MT | m.8158A>C | CA913178686 | MT-CO2 | c.573A>C (p.Val191=) | |
| MT | m.8158A>G | CA337097812 | MT-CO2 | c.573A>G (p.Val191=) | dbSNP |
| MT | m.8158A>T | CA337097813 | MT-CO2 | c.573A>T (p.Val191=) | dbSNP |
| MT | m.8159T>A | CA414795274 | MT-CO2 | c.574T>A (p.Tyr192Asn) | |
| MT | m.8159T>C | CA414795278 | MT-CO2 | c.574T>C (p.Tyr192His) | |
| MT | m.8159T>G | CA414795276 | MT-CO2 | c.574T>G (p.Tyr192Asp) | |
| MT | m.8159T= | CA2573328883 | MT-CO2 | c.574T= (p.Tyr192=) | |
| MT | m.8160A= | CA2573328886 | MT-CO2 | c.575A= (p.Tyr192=) | |
| MT | m.8160A>C | CA414795280 | MT-CO2 | c.575A>C (p.Tyr192Ser) | |
| MT | m.8160A>G | CA414795284 | MT-CO2 | c.575A>G (p.Tyr192Cys) | COSMIC |
| MT | m.8160A>T | CA414795282 | MT-CO2 | c.575A>T (p.Tyr192Phe) | |
| MT | m.8161C>A | CA414795286 | MT-CO2 | c.576C>A (p.Tyr192Ter) | |
| MT | m.8161C= | CA2499565499 | MT-CO2 | c.576C= (p.Tyr192=) | |
| MT | m.8161C>G | CA414795287 | MT-CO2 | c.576C>G (p.Tyr192Ter) | |
| MT | m.8161C>T | CA913178690 | MT-CO2 | c.576C>T (p.Tyr192=) | dbSNP |
| MT | m.8162T>A | CA414795290 | MT-CO2 | c.577T>A (p.Tyr193Asn) | |
| MT | m.8162T>C | CA414795292 | MT-CO2 | c.577T>C (p.Tyr193His) | |
| MT | m.8162T>G | CA414795293 | MT-CO2 | c.577T>G (p.Tyr193Asp) | |
| MT | m.8162T= | CA2573328893 | MT-CO2 | c.577T= (p.Tyr193=) | |
| MT | m.8163A= | CA2573328896 | MT-CO2 | c.578A= (p.Tyr193=) | |
| MT | m.8163A>C | CA414795296 | MT-CO2 | c.578A>C (p.Tyr193Ser) | |
| MT | m.8163A>G | CA414795298 | MT-CO2 | c.578A>G (p.Tyr193Cys) | |
| MT | m.8163A>T | CA414795299 | MT-CO2 | c.578A>T (p.Tyr193Phe) | |
| MT | m.8164C>A | CA414795302 | MT-CO2 | c.579C>A (p.Tyr193Ter) | |
| MT | m.8164C= | CA2499565500 | MT-CO2 | c.579C= (p.Tyr193=) | |
| MT | m.8164C>G | CA414795304 | MT-CO2 | c.579C>G (p.Tyr193Ter) | |
| MT | m.8164C>T | CA913178691 | MT-CO2 | c.579C>T (p.Tyr193=) | dbSNP |
| MT | m.8165G>A | CA414795310 | MT-CO2 | c.580G>A (p.Gly194Ser) | |
| MT | m.8165G>C | CA414795306 | MT-CO2 | c.580G>C (p.Gly194Arg) | |
| MT | m.8165G= | CA2573328898 | MT-CO2 | c.580G= (p.Gly194=) | |
| MT | m.8165G>T | CA414795308 | MT-CO2 | c.580G>T (p.Gly194Cys) | |
| MT | m.8166G>A | CA414795311 | MT-CO2 | c.581G>A (p.Gly194Asp) | |
| MT | m.8166G>C | CA414795313 | MT-CO2 | c.581G>C (p.Gly194Ala) | |
| MT | m.8166G= | CA2573328899 | MT-CO2 | c.581G= (p.Gly194=) | |
| MT | m.8166G>T | CA414795315 | MT-CO2 | c.581G>T (p.Gly194Val) | |
| MT | m.8167T>A | CA913178698 | MT-CO2 | c.582T>A (p.Gly194=) | dbSNP |
| MT | m.8167T>C | CA337097814 | MT-CO2 | c.582T>C (p.Gly194=) | dbSNP |
| MT | m.8167T>G | CA913178696 | MT-CO2 | c.582T>G (p.Gly194=) | |
| MT | m.8167T= | CA2499565501 | MT-CO2 | c.582T= (p.Gly194=) | |
| MT | m.8168C>A | CA414795319 | MT-CO2 | c.583C>A (p.Gln195Lys) | |
| MT | m.8168C= | CA2573328904 | MT-CO2 | c.583C= (p.Gln195=) | |
| MT | m.8168C>G | CA414795320 | MT-CO2 | c.583C>G (p.Gln195Glu) | |
| MT | m.8168C>T | CA414795322 | MT-CO2 | c.583C>T (p.Gln195Ter) | |
| MT | m.8169A= | CA2573328906 | MT-CO2 | c.584A= (p.Gln195=) | |
| MT | m.8169A>C | CA414795323 | MT-CO2 | c.584A>C (p.Gln195Pro) | |
| MT | m.8169A>G | CA414795325 | MT-CO2 | c.584A>G (p.Gln195Arg) | |
| MT | m.8169A>T | CA414795327 | MT-CO2 | c.584A>T (p.Gln195Leu) | |
| MT | m.8170A= | CA2499565502 | MT-CO2 | c.585A= (p.Gln195=) | |
| MT | m.8170A>C | CA414795329 | MT-CO2 | c.585A>C (p.Gln195His) | |
| MT | m.8170A>G | CA913178701 | MT-CO2 | c.585A>G (p.Gln195=) | dbSNP |
| MT | m.8170A>T | CA414795331 | MT-CO2 | c.585A>T (p.Gln195His) | |
| MT | m.8171T>A | CA414795333 | MT-CO2 | c.586T>A (p.Cys196Ser) | |
| MT | m.8171T>C | CA414795335 | MT-CO2 | c.586T>C (p.Cys196Arg) | |
| MT | m.8171T>G | CA414795337 | MT-CO2 | c.586T>G (p.Cys196Gly) | |
| MT | m.8171T= | CA2573328912 | MT-CO2 | c.586T= (p.Cys196=) | |
| MT | m.8172G>A | CA414795338 | MT-CO2 | c.587G>A (p.Cys196Tyr) | |
| MT | m.8172G>C | CA414795340 | MT-CO2 | c.587G>C (p.Cys196Ser) | |
| MT | m.8172G= | CA2573328915 | MT-CO2 | c.587G= (p.Cys196=) | |
| MT | m.8172G>T | CA414795342 | MT-CO2 | c.587G>T (p.Cys196Phe) | |
| MT | m.8173C>A | CA414795344 | MT-CO2 | c.588C>A (p.Cys196Ter) | |
| MT | m.8173C= | CA2573328916 | MT-CO2 | c.588C= (p.Cys196=) | |
| MT | m.8173C>G | CA414795346 | MT-CO2 | c.588C>G (p.Cys196Trp) | |
| MT | m.8173C>T | CA913178707 | MT-CO2 | c.588C>T (p.Cys196=) | |
| MT | m.8174T>A | CA414795348 | MT-CO2 | c.589T>A (p.Ser197Thr) | |
| MT | m.8174T>C | CA414795350 | MT-CO2 | c.589T>C (p.Ser197Pro) | |
| MT | m.8174T>G | CA414795351 | MT-CO2 | c.589T>G (p.Ser197Ala) | |
| MT | m.8174T= | CA2573328919 | MT-CO2 | c.589T= (p.Ser197=) | |
| MT | m.8175C>A | CA414795357 | MT-CO2 | c.590C>A (p.Ser197Tyr) | |
| MT | m.8175C= | CA2573328922 | MT-CO2 | c.590C= (p.Ser197=) | |
| MT | m.8175C>G | CA414795354 | MT-CO2 | c.590C>G (p.Ser197Cys) | |
| MT | m.8175C>T | CA414795355 | MT-CO2 | c.590C>T (p.Ser197Phe) | |
| MT | m.8176T>A | CA913178716 | MT-CO2 | c.591T>A (p.Ser197=) | |
| MT | m.8176T>C | CA913178715 | MT-CO2 | c.591T>C (p.Ser197=) | dbSNP |
| MT | m.8176T>G | CA913178714 | MT-CO2 | c.591T>G (p.Ser197=) | |
| MT | m.8176T= | CA2499565503 | MT-CO2 | c.591T= (p.Ser197=) | |
| MT | m.8177G>A | CA414795360 | MT-CO2 | c.592G>A (p.Glu198Lys) | |
| MT | m.8177G>C | CA414795361 | MT-CO2 | c.592G>C (p.Glu198Gln) | |
| MT | m.8177G= | CA2573328925 | MT-CO2 | c.592G= (p.Glu198=) | |
| MT | m.8177G>T | CA414795363 | MT-CO2 | c.592G>T (p.Glu198Ter) | |
| MT | m.8178A= | CA2573328928 | MT-CO2 | c.593A= (p.Glu198=) | |
| MT | m.8178A>C | CA414795365 | MT-CO2 | c.593A>C (p.Glu198Ala) | |
| MT | m.8178A>G | CA414795367 | MT-CO2 | c.593A>G (p.Glu198Gly) | |
| MT | m.8178A>T | CA414795369 | MT-CO2 | c.593A>T (p.Glu198Val) | |
| MT | m.8179A= | CA2499565504 | MT-CO2 | c.594A= (p.Glu198=) | |
| MT | m.8179A>C | CA414795371 | MT-CO2 | c.594A>C (p.Glu198Asp) | |
| MT | m.8179A>G | CA913178720 | MT-CO2 | c.594A>G (p.Glu198=) | dbSNP |
| MT | m.8179A>T | CA414795372 | MT-CO2 | c.594A>T (p.Glu198Asp) | |
| MT | m.8180A= | CA2573328934 | MT-CO2 | c.595A= (p.Ile199=) | |
| MT | m.8180A>C | CA414795375 | MT-CO2 | c.595A>C (p.Ile199Leu) | |
| MT | m.8180A>G | CA414795377 | MT-CO2 | c.595A>G (p.Ile199Val) | |
| MT | m.8180A>T | CA414795378 | MT-CO2 | c.595A>T (p.Ile199Phe) | |
| MT | m.8181T>A | CA414795384 | MT-CO2 | c.596T>A (p.Ile199Asn) | |
| MT | m.8181T>C | CA414795383 | MT-CO2 | c.596T>C (p.Ile199Thr) | |
| MT | m.8181T>G | CA414795380 | MT-CO2 | c.596T>G (p.Ile199Ser) | |
| MT | m.8181T= | CA2573328937 | MT-CO2 | c.596T= (p.Ile199=) | |
| MT | m.8182C>A | CA913178724 | MT-CO2 | c.597C>A (p.Ile199=) | |
| MT | m.8182C= | CA2573328938 | MT-CO2 | c.597C= (p.Ile199=) | |
| MT | m.8182C>G | CA414795386 | MT-CO2 | c.597C>G (p.Ile199Met) | |
| MT | m.8182C>T | CA913178723 | MT-CO2 | c.597C>T (p.Ile199=) | |
| MT | m.8183T>A | CA414795388 | MT-CO2 | c.598T>A (p.Cys200Ser) | |
| MT | m.8183T>C | CA414795392 | MT-CO2 | c.598T>C (p.Cys200Arg) | |
| MT | m.8183T>G | CA414795389 | MT-CO2 | c.598T>G (p.Cys200Gly) | |
| MT | m.8183T= | CA2573328939 | MT-CO2 | c.598T= (p.Cys200=) | |
| MT | m.8184G>A | CA414795394 | MT-CO2 | c.599G>A (p.Cys200Tyr) | |
| MT | m.8184G>C | CA414795395 | MT-CO2 | c.599G>C (p.Cys200Ser) | |
| MT | m.8184G= | CA2573328940 | MT-CO2 | c.599G= (p.Cys200=) | |
| MT | m.8184G>T | CA414795397 | MT-CO2 | c.599G>T (p.Cys200Phe) | |
| MT | m.8185T>A | CA414795400 | MT-CO2 | c.600T>A (p.Cys200Ter) | |
| MT | m.8185T>C | CA645611393 | MT-CO2 | c.600T>C (p.Cys200=) | dbSNP COSMIC |
| MT | m.8185T>G | CA414795401 | MT-CO2 | c.600T>G (p.Cys200Trp) | |
| MT | m.8185T= | CA2499565505 | MT-CO2 | c.600T= (p.Cys200=) | |
| MT | m.8186G>A | CA414795403 | MT-CO2 | c.601G>A (p.Gly201Arg) | |
| MT | m.8186G>C | CA414795405 | MT-CO2 | c.601G>C (p.Gly201Arg) | |
| MT | m.8186G= | CA2573328943 | MT-CO2 | c.601G= (p.Gly201=) | |
| MT | m.8186G>T | CA414795407 | MT-CO2 | c.601G>T (p.Gly201Ter) | |
| MT | m.8187G>A | CA414795409 | MT-CO2 | c.602G>A (p.Gly201Glu) | ClinVar dbSNP |
| MT | m.8187G>C | CA414795410 | MT-CO2 | c.602G>C (p.Gly201Ala) | |
| MT | m.8187G= | CA2499565506 | MT-CO2 | c.602G= (p.Gly201=) | |
| MT | m.8187G>T | CA414795412 | MT-CO2 | c.602G>T (p.Gly201Val) | |
| MT | m.8188A= | CA2499565507 | MT-CO2 | c.603A= (p.Gly201=) | |
| MT | m.8188A>C | CA913178729 | MT-CO2 | c.603A>C (p.Gly201=) | |
| MT | m.8188A>G | CA337097815 | MT-CO2 | c.603A>G (p.Gly201=) | dbSNP |
| MT | m.8188A>T | CA913178728 | MT-CO2 | c.603A>T (p.Gly201=) | |
| MT | m.8189G>A | CA414795416 | MT-CO2 | c.604G>A (p.Ala202Thr) | |
| MT | m.8189G>C | CA414795419 | MT-CO2 | c.604G>C (p.Ala202Pro) | |
| MT | m.8189G= | CA2573328946 | MT-CO2 | c.604G= (p.Ala202=) | |
| MT | m.8189G>T | CA414795417 | MT-CO2 | c.604G>T (p.Ala202Ser) | |
| MT | m.8190C>A | CA414795421 | MT-CO2 | c.605C>A (p.Ala202Glu) | |
| MT | m.8190C= | CA2573328949 | MT-CO2 | c.605C= (p.Ala202=) | |
| MT | m.8190C>G | CA414795423 | MT-CO2 | c.605C>G (p.Ala202Gly) | |
| MT | m.8190C>T | CA414795425 | MT-CO2 | c.605C>T (p.Ala202Val) | |
| MT | m.8191A= | CA2499565508 | MT-CO2 | c.606A= (p.Ala202=) | |
| MT | m.8191A>C | CA913178734 | MT-CO2 | c.606A>C (p.Ala202=) | |
| MT | m.8191A>G | CA913178733 | MT-CO2 | c.606A>G (p.Ala202=) | dbSNP |
| MT | m.8191A>T | CA913178735 | MT-CO2 | c.606A>T (p.Ala202=) | dbSNP |