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.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9038T>A | CA414801966 | MT-ATP6 | c.512T>A (p.Met171Lys) | |
| MT | m.9038T>C | CA414801969 | MT-ATP6 | c.512T>C (p.Met171Thr) | ClinVar dbSNP |
| MT | m.9038T>G | CA414801968 | MT-ATP6 | c.512T>G (p.Met171Arg) | |
| MT | m.9038T= | CA2499566067 | MT-ATP6 | c.512T= (p.Met171=) | |
| MT | m.9039G>A | CA414801972 | MT-ATP6 | c.513G>A (p.Met171Ile) | dbSNP |
| MT | m.9039G>C | CA414801973 | MT-ATP6 | c.513G>C (p.Met171Ile) | |
| MT | m.9039G= | CA2499566068 | MT-ATP6 | c.513G= (p.Met171=) | |
| MT | m.9039G>T | CA414801975 | MT-ATP6 | c.513G>T (p.Met171Ile) | |
| MT | m.9040C>A | CA414801977 | MT-ATP6 | c.514C>A (p.His172Asn) | |
| MT | m.9040C= | CA2573320991 | MT-ATP6 | c.514C= (p.His172=) | |
| MT | m.9040C>G | CA414801979 | MT-ATP6 | c.514C>G (p.His172Asp) | |
| MT | m.9040C>T | CA414801980 | MT-ATP6 | c.514C>T (p.His172Tyr) | |
| MT | m.9041A= | CA2499566069 | MT-ATP6 | c.515A= (p.His172=) | |
| MT | m.9041A>C | CA414801984 | MT-ATP6 | c.515A>C (p.His172Pro) | |
| MT | m.9041A>G | CA337098147 | MT-ATP6 | c.515A>G (p.His172Arg) | ClinVar dbSNP |
| MT | m.9041A>T | CA414801986 | MT-ATP6 | c.515A>T (p.His172Leu) | |
| MT | m.9042C>A | CA414801990 | MT-ATP6 | c.516C>A (p.His172Gln) | |
| MT | m.9042C= | CA2499566070 | MT-ATP6 | c.516C= (p.His172=) | |
| MT | m.9042C>G | CA414801991 | MT-ATP6 | c.516C>G (p.His172Gln) | |
| MT | m.9042C>T | CA337098151 | MT-ATP6 | c.516C>T (p.His172=) | dbSNP |
| MT | m.9043C>A | CA414801993 | MT-ATP6 | c.517C>A (p.Leu173Ile) | |
| MT | m.9043C= | CA2573321008 | MT-ATP6 | c.517C= (p.Leu173=) | |
| MT | m.9043C>G | CA414801995 | MT-ATP6 | c.517C>G (p.Leu173Val) | |
| MT | m.9043C>T | CA645611400 | MT-ATP6 | c.517C>T (p.Leu173=) | dbSNP COSMIC COSMIC |
| MT | m.9044T>A | CA414801997 | MT-ATP6 | c.518T>A (p.Leu173Gln) | |
| MT | m.9044T>C | CA414801998 | MT-ATP6 | c.518T>C (p.Leu173Pro) | |
| MT | m.9044T>G | CA414802001 | MT-ATP6 | c.518T>G (p.Leu173Arg) | |
| MT | m.9044T= | CA2573321019 | MT-ATP6 | c.518T= (p.Leu173=) | |
| MT | m.9045A= | CA2573321024 | MT-ATP6 | c.519A= (p.Leu173=) | |
| MT | m.9045A>C | CA913181081 | MT-ATP6 | c.519A>C (p.Leu173=) | |
| MT | m.9045A>G | CA913181080 | MT-ATP6 | c.519A>G (p.Leu173=) | |
| MT | m.9045A>T | CA913181079 | MT-ATP6 | c.519A>T (p.Leu173=) | |
| MT | m.9046A= | CA2573321029 | MT-ATP6 | c.520A= (p.Ile174=) | |
| MT | m.9046A>C | CA414802006 | MT-ATP6 | c.520A>C (p.Ile174Leu) | |
| MT | m.9046A>G | CA414802002 | MT-ATP6 | c.520A>G (p.Ile174Val) | |
| MT | m.9046A>T | CA414802004 | MT-ATP6 | c.520A>T (p.Ile174Phe) | |
| MT | m.9047T>A | CA414802008 | MT-ATP6 | c.521T>A (p.Ile174Asn) | |
| MT | m.9047T>C | CA414802010 | MT-ATP6 | c.521T>C (p.Ile174Thr) | ClinVar dbSNP |
| MT | m.9047T>G | CA414802012 | MT-ATP6 | c.521T>G (p.Ile174Ser) | |
| MT | m.9047T= | CA2499566071 | MT-ATP6 | c.521T= (p.Ile174=) | |
| MT | m.9048T>A | CA337098153 | MT-ATP6 | c.522T>A (p.Ile174=) | |
| MT | m.9048T>C | CA913181086 | MT-ATP6 | c.522T>C (p.Ile174=) | dbSNP |
| MT | m.9048T>G | CA337098156 | MT-ATP6 | c.522T>G (p.Ile174Met) | |
| MT | m.9048T= | CA2499566072 | MT-ATP6 | c.522T= (p.Ile174=) | |
| MT | m.9049G>A | CA414802017 | MT-ATP6 | c.523G>A (p.Gly175Arg) | ClinVar dbSNP |
| MT | m.9049G>C | CA414802021 | MT-ATP6 | c.523G>C (p.Gly175Arg) | |
| MT | m.9049G= | CA2499566073 | MT-ATP6 | c.523G= (p.Gly175=) | |
| MT | m.9049G>T | CA414802019 | MT-ATP6 | c.523G>T (p.Gly175Ter) | |
| MT | m.9050del | CA2573105023 | MT-ATP6 | c.524del (p.Gly175GlufsTer5) | |
| MT | m.9050G>A | CA414802022 | MT-ATP6 | c.524G>A (p.Gly175Glu) | dbSNP |
| MT | m.9050G>C | CA414802024 | MT-ATP6 | c.524G>C (p.Gly175Ala) | |
| MT | m.9050G= | CA2513607391 | MT-ATP6 | c.524G= (p.Gly175=) | |
| MT | m.9050G>T | CA414802026 | MT-ATP6 | c.524G>T (p.Gly175Val) | |
| MT | m.9051A= | CA2573321061 | MT-ATP6 | c.525A= (p.Gly175=) | |
| MT | m.9051A>C | CA913181096 | MT-ATP6 | c.525A>C (p.Gly175=) | |
| MT | m.9051A>G | CA913181095 | MT-ATP6 | c.525A>G (p.Gly175=) | dbSNP |
| MT | m.9051A>T | CA913181094 | MT-ATP6 | c.525A>T (p.Gly175=) | |
| MT | m.9052A= | CA2499566074 | MT-ATP6 | c.526A= (p.Ser176=) | |
| MT | m.9052A>C | CA414802028 | MT-ATP6 | c.526A>C (p.Ser176Arg) | |
| MT | m.9052A>G | CA414802029 | MT-ATP6 | c.526A>G (p.Ser176Gly) | ClinVar dbSNP |
| MT | m.9052A>T | CA414802031 | MT-ATP6 | c.526A>T (p.Ser176Cys) | |
| MT | m.9053G>A | CA337098159 | MT-ATP6 | c.527G>A (p.Ser176Asn) | ClinVar dbSNP |
| MT | m.9053G>C | CA414802034 | MT-ATP6 | c.527G>C (p.Ser176Thr) | dbSNP |
| MT | m.9053G= | CA2499566075 | MT-ATP6 | c.527G= (p.Ser176=) | |
| MT | m.9053G>T | CA414802036 | MT-ATP6 | c.527G>T (p.Ser176Ile) | |
| MT | m.9054C>A | CA414802038 | MT-ATP6 | c.528C>A (p.Ser176Arg) | |
| MT | m.9054C= | CA2573321072 | MT-ATP6 | c.528C= (p.Ser176=) | |
| MT | m.9054C>G | CA414802039 | MT-ATP6 | c.528C>G (p.Ser176Arg) | |
| MT | m.9054C>T | CA913181099 | MT-ATP6 | c.528C>T (p.Ser176=) | |
| MT | m.9055G>A | CA337098169 | MT-ATP6 | c.529G>A (p.Ala177Thr) | ClinVar dbSNP |
| MT | m.9055G>C | CA337098166 | MT-ATP6 | c.529G>C (p.Ala177Pro) | |
| MT | m.9055G= | CA2499566076 | MT-ATP6 | c.529G= (p.Ala177=) | |
| MT | m.9055G>T | CA337098163 | MT-ATP6 | c.529G>T (p.Ala177Ser) | |
| MT | m.9056C>A | CA414802045 | MT-ATP6 | c.530C>A (p.Ala177Asp) | |
| MT | m.9056C= | CA2499566077 | MT-ATP6 | c.530C= (p.Ala177=) | |
| MT | m.9056C>G | CA414802049 | MT-ATP6 | c.530C>G (p.Ala177Gly) | |
| MT | m.9056C>T | CA414802048 | MT-ATP6 | c.530C>T (p.Ala177Val) | ClinVar dbSNP |
| MT | m.9057C>A | CA913181109 | MT-ATP6 | c.531C>A (p.Ala177=) | |
| MT | m.9057C= | CA2573321080 | MT-ATP6 | c.531C= (p.Ala177=) | |
| MT | m.9057C>G | CA913181108 | MT-ATP6 | c.531C>G (p.Ala177=) | |
| MT | m.9057C>T | CA913181106 | MT-ATP6 | c.531C>T (p.Ala177=) | |
| MT | m.9058A= | CA2499566078 | MT-ATP6 | c.532A= (p.Thr178=) | |
| MT | m.9058A>C | CA414802051 | MT-ATP6 | c.532A>C (p.Thr178Pro) | ClinVar dbSNP |
| MT | m.9058A>G | CA414802055 | MT-ATP6 | c.532A>G (p.Thr178Ala) | ClinVar dbSNP |
| MT | m.9058A>T | CA414802053 | MT-ATP6 | c.532A>T (p.Thr178Ser) | |
| MT | m.9059C>A | CA414802057 | MT-ATP6 | c.533C>A (p.Thr178Asn) | |
| MT | m.9059C= | CA2573321087 | MT-ATP6 | c.533C= (p.Thr178=) | |
| MT | m.9059C>G | CA414802059 | MT-ATP6 | c.533C>G (p.Thr178Ser) | |
| MT | m.9059C>T | CA414802060 | MT-ATP6 | c.533C>T (p.Thr178Ile) | |
| MT | m.9060C>A | CA913181112 | MT-ATP6 | c.534C>A (p.Thr178=) | |
| MT | m.9060C= | CA2573321088 | MT-ATP6 | c.534C= (p.Thr178=) | |
| MT | m.9060C>G | CA913181111 | MT-ATP6 | c.534C>G (p.Thr178=) | |
| MT | m.9060C>T | CA913181110 | MT-ATP6 | c.534C>T (p.Thr178=) | |
| MT | m.9061C>A | CA414802063 | MT-ATP6 | c.535C>A (p.Leu179Ile) | |
| MT | m.9061C= | CA2499566079 | MT-ATP6 | c.535C= (p.Leu179=) | |
| MT | m.9061C>G | CA414802065 | MT-ATP6 | c.535C>G (p.Leu179Val) | |
| MT | m.9061C>T | CA337098172 | MT-ATP6 | c.535C>T (p.Leu179=) | dbSNP |
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.9062T>A | CA414802068 | MT-ATP6 | c.536T>A (p.Leu179Gln) | |
| MT | m.9062T>C | CA414802069 | MT-ATP6 | c.536T>C (p.Leu179Pro) | COSMIC COSMIC |
| MT | m.9062T>G | CA414802071 | MT-ATP6 | c.536T>G (p.Leu179Arg) | |
| MT | m.9062T= | CA2573321089 | MT-ATP6 | c.536T= (p.Leu179=) | |
| MT | m.9063A= | CA2499566080 | MT-ATP6 | c.537A= (p.Leu179=) | |
| MT | m.9063A>C | CA913181116 | MT-ATP6 | c.537A>C (p.Leu179=) | |
| MT | m.9063A>G | CA337098173 | MT-ATP6 | c.537A>G (p.Leu179=) | dbSNP |
| MT | m.9063A>T | CA913181115 | MT-ATP6 | c.537A>T (p.Leu179=) | |
| MT | m.9064G>A | CA337098175 | MT-ATP6 | c.538G>A (p.Ala180Thr) | ClinVar dbSNP |
| MT | m.9064G>C | CA337098177 | MT-ATP6 | c.538G>C (p.Ala180Pro) | |
| MT | m.9064G= | CA2499566081 | MT-ATP6 | c.538G= (p.Ala180=) | |
| MT | m.9064G>T | CA337098180 | MT-ATP6 | c.538G>T (p.Ala180Ser) | |
| MT | m.9065C>A | CA414802078 | MT-ATP6 | c.539C>A (p.Ala180Glu) | |
| MT | m.9065C= | CA2573321106 | MT-ATP6 | c.539C= (p.Ala180=) | |
| MT | m.9065C>G | CA414802080 | MT-ATP6 | c.539C>G (p.Ala180Gly) | |
| MT | m.9065C>T | CA414802081 | MT-ATP6 | c.539C>T (p.Ala180Val) | |
| MT | m.9066A= | CA2499566082 | MT-ATP6 | c.540A= (p.Ala180=) | |
| MT | m.9066A>C | CA913181122 | MT-ATP6 | c.540A>C (p.Ala180=) | |
| MT | m.9066A>G | CA913181119 | MT-ATP6 | c.540A>G (p.Ala180=) | dbSNP |
| MT | m.9066A>T | CA913181121 | MT-ATP6 | c.540A>T (p.Ala180=) | |
| MT | m.9067A= | CA2499566083 | MT-ATP6 | c.541A= (p.Ile181=) | |
| MT | m.9067A>C | CA414802084 | MT-ATP6 | c.541A>C (p.Ile181Leu) | |
| MT | m.9067A>G | CA414802085 | MT-ATP6 | c.541A>G (p.Ile181Val) | ClinVar dbSNP |
| MT | m.9067A>T | CA414802087 | MT-ATP6 | c.541A>T (p.Ile181Leu) | |
| MT | m.9068T>A | CA414802089 | MT-ATP6 | c.542T>A (p.Ile181Lys) | |
| MT | m.9068T>C | CA414802091 | MT-ATP6 | c.542T>C (p.Ile181Thr) | dbSNP |
| MT | m.9068T>G | CA414802093 | MT-ATP6 | c.542T>G (p.Ile181Arg) | |
| MT | m.9068T= | CA2499566084 | MT-ATP6 | c.542T= (p.Ile181=) | |
| MT | m.9069A= | CA2499566085 | MT-ATP6 | c.543A= (p.Ile181=) | |
| MT | m.9069A>C | CA913181124 | MT-ATP6 | c.543A>C (p.Ile181=) | |
| MT | m.9069A>G | CA414802095 | MT-ATP6 | c.543A>G (p.Ile181Met) | dbSNP |
| MT | m.9069A>T | CA913181123 | MT-ATP6 | c.543A>T (p.Ile181=) | |
| MT | m.9070T>A | CA414802100 | MT-ATP6 | c.544T>A (p.Ser182Thr) | |
| MT | m.9070T>C | CA414802098 | MT-ATP6 | c.544T>C (p.Ser182Pro) | ClinVar dbSNP |
| MT | m.9070T>G | CA337098182 | MT-ATP6 | c.544T>G (p.Ser182Ala) | ClinVar dbSNP |
| MT | m.9070T= | CA2499566086 | MT-ATP6 | c.544T= (p.Ser182=) | |
| MT | m.9071C>A | CA414802102 | MT-ATP6 | c.545C>A (p.Ser182Ter) | |
| MT | m.9071C= | CA2499566087 | MT-ATP6 | c.545C= (p.Ser182=) | |
| MT | m.9071C>G | CA414802104 | MT-ATP6 | c.545C>G (p.Ser182Ter) | |
| MT | m.9071C>T | CA414802106 | MT-ATP6 | c.545C>T (p.Ser182Leu) | ClinVar dbSNP |
| MT | m.9072A= | CA2499566088 | MT-ATP6 | c.546A= (p.Ser182=) | |
| MT | m.9072A>C | CA337098194 | MT-ATP6 | c.546A>C (p.Ser182=) | |
| MT | m.9072A>G | CA10581382 | MT-ATP6 | c.546A>G (p.Ser182=) | ClinVar dbSNP |
| MT | m.9072A>T | CA337098191 | MT-ATP6 | c.546A>T (p.Ser182=) | |
| MT | m.9073A= | CA2499566089 | MT-ATP6 | c.547A= (p.Thr183=) | |
| MT | m.9073A>C | CA414802112 | MT-ATP6 | c.547A>C (p.Thr183Pro) | ClinVar dbSNP |
| MT | m.9073A>G | CA414802113 | MT-ATP6 | c.547A>G (p.Thr183Ala) | dbSNP |
| MT | m.9073A>T | CA414802114 | MT-ATP6 | c.547A>T (p.Thr183Ser) | |
| MT | m.9074C>A | CA414802117 | MT-ATP6 | c.548C>A (p.Thr183Asn) | |
| MT | m.9074C= | CA2573321182 | MT-ATP6 | c.548C= (p.Thr183=) | |
| MT | m.9074C>G | CA414802119 | MT-ATP6 | c.548C>G (p.Thr183Ser) | |
| MT | m.9074C>T | CA414802120 | MT-ATP6 | c.548C>T (p.Thr183Ile) | |
| MT | m.9075C>A | CA913181137 | MT-ATP6 | c.549C>A (p.Thr183=) | |
| MT | m.9075C= | CA2573321186 | MT-ATP6 | c.549C= (p.Thr183=) | |
| MT | m.9075C>G | CA913181136 | MT-ATP6 | c.549C>G (p.Thr183=) | |
| MT | m.9075C>T | CA913181134 | MT-ATP6 | c.549C>T (p.Thr183=) | |
| MT | m.9076A= | CA2573321189 | MT-ATP6 | c.550A= (p.Ile184=) | |
| MT | m.9076A>C | CA414802123 | MT-ATP6 | c.550A>C (p.Ile184Leu) | |
| MT | m.9076A>G | CA414802126 | MT-ATP6 | c.550A>G (p.Ile184Val) | |
| MT | m.9076A>T | CA414802125 | MT-ATP6 | c.550A>T (p.Ile184Phe) | |
| MT | m.9077T>A | CA414802129 | MT-ATP6 | c.551T>A (p.Ile184Asn) | |
| MT | m.9077T>C | CA414802130 | MT-ATP6 | c.551T>C (p.Ile184Thr) | ClinVar dbSNP |
| MT | m.9077T>G | CA414802132 | MT-ATP6 | c.551T>G (p.Ile184Ser) | |
| MT | m.9077T= | CA2499566090 | MT-ATP6 | c.551T= (p.Ile184=) | |
| MT | m.9078T>A | CA913181139 | MT-ATP6 | c.552T>A (p.Ile184=) | |
| MT | m.9078T>C | CA913181138 | MT-ATP6 | c.552T>C (p.Ile184=) | dbSNP |
| MT | m.9078T>G | CA414802135 | MT-ATP6 | c.552T>G (p.Ile184Met) | |
| MT | m.9078T= | CA2499566091 | MT-ATP6 | c.552T= (p.Ile184=) | |
| MT | m.9079A= | CA2499566092 | MT-ATP6 | c.553A= (p.Asn185=) | |
| MT | m.9079A>C | CA414802137 | MT-ATP6 | c.553A>C (p.Asn185His) | |
| MT | m.9079A>G | CA414802139 | MT-ATP6 | c.553A>G (p.Asn185Asp) | ClinVar dbSNP |
| MT | m.9079A>T | CA414802141 | MT-ATP6 | c.553A>T (p.Asn185Tyr) | |
| MT | m.9080A= | CA2499566093 | MT-ATP6 | c.554A= (p.Asn185=) | |
| MT | m.9080A>C | CA414802142 | MT-ATP6 | c.554A>C (p.Asn185Thr) | |
| MT | m.9080A>G | CA414802145 | MT-ATP6 | c.554A>G (p.Asn185Ser) | ClinVar dbSNP |
| MT | m.9080A>T | CA414802146 | MT-ATP6 | c.554A>T (p.Asn185Ile) | |
| MT | m.9081C>A | CA414802148 | MT-ATP6 | c.555C>A (p.Asn185Lys) | |
| MT | m.9081C= | CA2499566094 | MT-ATP6 | c.555C= (p.Asn185=) | |
| MT | m.9081C>G | CA414802149 | MT-ATP6 | c.555C>G (p.Asn185Lys) | |
| MT | m.9081C>T | CA913181144 | MT-ATP6 | c.555C>T (p.Asn185=) | dbSNP |
| MT | m.9082C>A | CA414802152 | MT-ATP6 | c.556C>A (p.Leu186Ile) | |
| MT | m.9082C= | CA2499566095 | MT-ATP6 | c.556C= (p.Leu186=) | |
| MT | m.9082C>G | CA414802154 | MT-ATP6 | c.556C>G (p.Leu186Val) | |
| MT | m.9082C>T | CA414802155 | MT-ATP6 | c.556C>T (p.Leu186Phe) | ClinVar dbSNP |
| MT | m.9083T>A | CA414802158 | MT-ATP6 | c.557T>A (p.Leu186His) | |
| MT | m.9083T>C | CA414802159 | MT-ATP6 | c.557T>C (p.Leu186Pro) | ClinVar dbSNP |
| MT | m.9083T>G | CA414802161 | MT-ATP6 | c.557T>G (p.Leu186Arg) | |
| MT | m.9083T= | CA2499566096 | MT-ATP6 | c.557T= (p.Leu186=) | |
| MT | m.9084T>A | CA913181148 | MT-ATP6 | c.558T>A (p.Leu186=) | |
| MT | m.9084T>C | CA913181147 | MT-ATP6 | c.558T>C (p.Leu186=) | dbSNP |
| MT | m.9084T>G | CA913181146 | MT-ATP6 | c.558T>G (p.Leu186=) | |
| MT | m.9084T= | CA2499566097 | MT-ATP6 | c.558T= (p.Leu186=) | |
| MT | m.9085C>A | CA414802164 | MT-ATP6 | c.559C>A (p.Pro187Thr) | ClinVar dbSNP |
| MT | m.9085C= | CA2499566098 | MT-ATP6 | c.559C= (p.Pro187=) | |
| MT | m.9085C>G | CA414802165 | MT-ATP6 | c.559C>G (p.Pro187Ala) | |
| MT | m.9085C>T | CA414802167 | MT-ATP6 | c.559C>T (p.Pro187Ser) | |
| MT | m.9086C>A | CA414802169 | MT-ATP6 | c.560C>A (p.Pro187His) | |
| MT | m.9086C= | CA2499566099 | MT-ATP6 | c.560C= (p.Pro187=) | |
| MT | m.9086C>G | CA414802171 | MT-ATP6 | c.560C>G (p.Pro187Arg) | |
| MT | m.9086C>T | CA414802172 | MT-ATP6 | c.560C>T (p.Pro187Leu) | ClinVar dbSNP |
| MT | m.9087C>A | CA913181153 | MT-ATP6 | c.561C>A (p.Pro187=) | |
| MT | m.9087C= | CA2513293384 | MT-ATP6 | c.561C= (p.Pro187=) | |
| MT | m.9087C>G | CA913181151 | MT-ATP6 | c.561C>G (p.Pro187=) | |
| MT | m.9087C>T | CA913181150 | MT-ATP6 | c.561C>T (p.Pro187=) | |
| MT | m.9088T>A | CA414802178 | MT-ATP6 | c.562T>A (p.Ser188Thr) | |
| MT | m.9088T>C | CA337098202 | MT-ATP6 | c.562T>C (p.Ser188Pro) | ClinVar dbSNP |
| MT | m.9088T>G | CA414802175 | MT-ATP6 | c.562T>G (p.Ser188Ala) | |
| MT | m.9088T= | CA2499566100 | MT-ATP6 | c.562T= (p.Ser188=) | |
| MT | m.9089C>A | CA414802180 | MT-ATP6 | c.563C>A (p.Ser188Tyr) | |
| MT | m.9089C= | CA2513200437 | MT-ATP6 | c.563C= (p.Ser188=) | |
| MT | m.9089C>G | CA414802181 | MT-ATP6 | c.563C>G (p.Ser188Cys) | |
| MT | m.9089C>T | CA414802183 | MT-ATP6 | c.563C>T (p.Ser188Phe) | |
| MT | m.9090T>A | CA337098205 | MT-ATP6 | c.564T>A (p.Ser188=) | |
| MT | m.9090T>C | CA913181158 | MT-ATP6 | c.564T>C (p.Ser188=) | dbSNP |
| MT | m.9090T>G | CA337098208 | MT-ATP6 | c.564T>G (p.Ser188=) | |
| MT | m.9090T= | CA2499566101 | MT-ATP6 | c.564T= (p.Ser188=) | |
| MT | m.9091A= | CA2499566102 | MT-ATP6 | c.565A= (p.Thr189=) | |
| MT | m.9091A>C | CA414802188 | MT-ATP6 | c.565A>C (p.Thr189Pro) | |
| MT | m.9091A>G | CA16603197 | MT-ATP6 | c.565A>G (p.Thr189Ala) | ClinVar dbSNP |
| MT | m.9091A>T | CA414802190 | MT-ATP6 | c.565A>T (p.Thr189Ser) | |
| MT | m.9092C>A | CA414802192 | MT-ATP6 | c.566C>A (p.Thr189Lys) | |
| MT | m.9092C= | CA2499566103 | MT-ATP6 | c.566C= (p.Thr189=) | |
| MT | m.9092C>G | CA414802194 | MT-ATP6 | c.566C>G (p.Thr189Arg) | |
| MT | m.9092C>T | CA414802196 | MT-ATP6 | c.566C>T (p.Thr189Ile) | dbSNP |
| MT | m.9093A= | CA2499566104 | MT-ATP6 | c.567A= (p.Thr189=) | |
| MT | m.9093A>C | CA913181168 | MT-ATP6 | c.567A>C (p.Thr189=) | |
| MT | m.9093A>G | CA337098210 | MT-ATP6 | c.567A>G (p.Thr189=) | dbSNP |
| MT | m.9093A>T | CA913181167 | MT-ATP6 | c.567A>T (p.Thr189=) | |
| MT | m.9094C>A | CA414802198 | MT-ATP6 | c.568C>A (p.Leu190Ile) | dbSNP |
| MT | m.9094C= | CA2499566105 | MT-ATP6 | c.568C= (p.Leu190=) | |
| MT | m.9094C>G | CA414802200 | MT-ATP6 | c.568C>G (p.Leu190Val) | |
| MT | m.9094C>T | CA414802199 | MT-ATP6 | c.568C>T (p.Leu190Phe) | ClinVar dbSNP |
| MT | m.9095T>A | CA414802201 | MT-ATP6 | c.569T>A (p.Leu190His) | |
| MT | m.9095T>C | CA414802202 | MT-ATP6 | c.569T>C (p.Leu190Pro) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.9095T>G | CA414802203 | MT-ATP6 | c.569T>G (p.Leu190Arg) | |
| MT | m.9095T= | CA2499566106 | MT-ATP6 | c.569T= (p.Leu190=) | |
| MT | m.9096T>A | CA913181171 | MT-ATP6 | c.570T>A (p.Leu190=) | |
| MT | m.9096T>C | CA913181170 | MT-ATP6 | c.570T>C (p.Leu190=) | dbSNP |
| MT | m.9096T>G | CA913181169 | MT-ATP6 | c.570T>G (p.Leu190=) | dbSNP |
| MT | m.9096T= | CA2499566107 | MT-ATP6 | c.570T= (p.Leu190=) | |
| MT | m.9097A= | CA2499566108 | MT-ATP6 | c.571A= (p.Ile191=) | |
| MT | m.9097A>C | CA414802204 | MT-ATP6 | c.571A>C (p.Ile191Leu) | |
| MT | m.9097A>G | CA414802205 | MT-ATP6 | c.571A>G (p.Ile191Val) | ClinVar dbSNP |
| MT | m.9097A>T | CA414802206 | MT-ATP6 | c.571A>T (p.Ile191Phe) | |
| MT | m.9098T>A | CA414802207 | MT-ATP6 | c.572T>A (p.Ile191Asn) | |
| MT | m.9098T>C | CA337098212 | MT-ATP6 | c.572T>C (p.Ile191Thr) | ClinVar dbSNP |
| MT | m.9098T>G | CA414802208 | MT-ATP6 | c.572T>G (p.Ile191Ser) | ClinVar dbSNP |
| MT | m.9098T= | CA2499566109 | MT-ATP6 | c.572T= (p.Ile191=) | |
| MT | m.9099C>A | CA913181177 | MT-ATP6 | c.573C>A (p.Ile191=) | ClinVar dbSNP |
| MT | m.9099C= | CA2499566110 | MT-ATP6 | c.573C= (p.Ile191=) | |
| MT | m.9099C>G | CA414802209 | MT-ATP6 | c.573C>G (p.Ile191Met) | |
| MT | m.9099C>T | CA913181176 | MT-ATP6 | c.573C>T (p.Ile191=) | dbSNP |
| MT | m.9100A= | CA2499566111 | MT-ATP6 | c.574A= (p.Ile192=) | |
| MT | m.9100A>C | CA414802212 | MT-ATP6 | c.574A>C (p.Ile192Leu) | dbSNP |
| MT | m.9100A>G | CA414802211 | MT-ATP6 | c.574A>G (p.Ile192Val) | ClinVar dbSNP |
| MT | m.9100A>T | CA414802210 | MT-ATP6 | c.574A>T (p.Ile192Phe) | |
| MT | m.9101T>A | CA414802213 | MT-ATP6 | c.575T>A (p.Ile192Asn) | |
| MT | m.9101T>C | CA340927 | MT-ATP6 | c.575T>C (p.Ile192Thr) | ClinVar dbSNP |
| MT | m.9101T>G | CA414802214 | MT-ATP6 | c.575T>G (p.Ile192Ser) | ClinVar dbSNP |
| MT | m.9101T= | CA2499566112 | MT-ATP6 | c.575T= (p.Ile192=) | |
| MT | m.9102C>A | CA913181182 | MT-ATP6 | c.576C>A (p.Ile192=) | dbSNP |
| MT | m.9102C= | CA2499566113 | MT-ATP6 | c.576C= (p.Ile192=) | |
| MT | m.9102C>G | CA414802215 | MT-ATP6 | c.576C>G (p.Ile192Met) | |
| MT | m.9102C>T | CA913181180 | MT-ATP6 | c.576C>T (p.Ile192=) | dbSNP |
| MT | m.9103T>A | CA414802216 | MT-ATP6 | c.577T>A (p.Phe193Ile) | |
| MT | m.9103T>C | CA414802217 | MT-ATP6 | c.577T>C (p.Phe193Leu) | ClinVar dbSNP |
| MT | m.9103T>G | CA414802218 | MT-ATP6 | c.577T>G (p.Phe193Val) | |
| MT | m.9103T= | CA2499566114 | MT-ATP6 | c.577T= (p.Phe193=) | |
| MT | m.9104T>A | CA414802219 | MT-ATP6 | c.578T>A (p.Phe193Tyr) | |
| MT | m.9104T>C | CA414802220 | MT-ATP6 | c.578T>C (p.Phe193Ser) | ClinVar dbSNP |
| MT | m.9104T>G | CA414802221 | MT-ATP6 | c.578T>G (p.Phe193Cys) | |
| MT | m.9104T= | CA2499566115 | MT-ATP6 | c.578T= (p.Phe193=) | |
| MT | m.9105C>A | CA414802222 | MT-ATP6 | c.579C>A (p.Phe193Leu) | |
| MT | m.9105C= | CA2573321425 | MT-ATP6 | c.579C= (p.Phe193=) | |
| MT | m.9105C>G | CA414802223 | MT-ATP6 | c.579C>G (p.Phe193Leu) | |
| MT | m.9105C>T | CA913181186 | MT-ATP6 | c.579C>T (p.Phe193=) | dbSNP |
| MT | m.9106A= | CA2499566116 | MT-ATP6 | c.580A= (p.Thr194=) | |
| MT | m.9106A>C | CA414802225 | MT-ATP6 | c.580A>C (p.Thr194Pro) | |
| MT | m.9106A>G | CA414802226 | MT-ATP6 | c.580A>G (p.Thr194Ala) | ClinVar dbSNP |
| MT | m.9106A>T | CA414802224 | MT-ATP6 | c.580A>T (p.Thr194Ser) | |
| MT | m.9107C>A | CA414802227 | MT-ATP6 | c.581C>A (p.Thr194Lys) | |
| MT | m.9107C= | CA2499566117 | MT-ATP6 | c.581C= (p.Thr194=) | |
| MT | m.9107C>G | CA414802229 | MT-ATP6 | c.581C>G (p.Thr194Arg) | |
| MT | m.9107C>T | CA414802228 | MT-ATP6 | c.581C>T (p.Thr194Ile) | dbSNP |
| MT | m.9108A= | CA2499566118 | MT-ATP6 | c.582A= (p.Thr194=) | |
| MT | m.9108A>C | CA913181195 | MT-ATP6 | c.582A>C (p.Thr194=) | |
| MT | m.9108A>G | CA913181193 | MT-ATP6 | c.582A>G (p.Thr194=) | dbSNP |
| MT | m.9108A>T | CA913181192 | MT-ATP6 | c.582A>T (p.Thr194=) | |
| MT | m.9109A= | CA2499566119 | MT-ATP6 | c.583A= (p.Ile195=) | |
| MT | m.9109A>C | CA414802230 | MT-ATP6 | c.583A>C (p.Ile195Leu) | |
| MT | m.9109A>G | CA414802232 | MT-ATP6 | c.583A>G (p.Ile195Val) | dbSNP |
| MT | m.9109A>T | CA414802231 | MT-ATP6 | c.583A>T (p.Ile195Phe) | |
| MT | m.9110T>A | CA414802233 | MT-ATP6 | c.584T>A (p.Ile195Asn) | |
| MT | m.9110T>C | CA414802234 | MT-ATP6 | c.584T>C (p.Ile195Thr) | ClinVar dbSNP |
| MT | m.9110T>G | CA414802235 | MT-ATP6 | c.584T>G (p.Ile195Ser) | |
| MT | m.9110T= | CA2499566120 | MT-ATP6 | c.584T= (p.Ile195=) | |
| MT | m.9111T>A | CA913181199 | MT-ATP6 | c.585T>A (p.Ile195=) | |
| MT | m.9111T>C | CA645611401 | MT-ATP6 | c.585T>C (p.Ile195=) | dbSNP COSMIC COSMIC |
| MT | m.9111T>G | CA414802236 | MT-ATP6 | c.585T>G (p.Ile195Met) | |
| MT | m.9111T= | CA2499566121 | MT-ATP6 | c.585T= (p.Ile195=) | |
| MT | m.9112C>A | CA414802237 | MT-ATP6 | c.586C>A (p.Leu196Ile) | dbSNP |
| MT | m.9112C= | CA2573321467 | MT-ATP6 | c.586C= (p.Leu196=) | |
| MT | m.9112C>G | CA414802238 | MT-ATP6 | c.586C>G (p.Leu196Val) | |
| MT | m.9112C>T | CA913181200 | MT-ATP6 | c.586C>T (p.Leu196=) | |
| MT | m.9113T>A | CA414802239 | MT-ATP6 | c.587T>A (p.Leu196Gln) | |
| MT | m.9113T>C | CA414802240 | MT-ATP6 | c.587T>C (p.Leu196Pro) | |
| MT | m.9113T>G | CA414802241 | MT-ATP6 | c.587T>G (p.Leu196Arg) | |
| MT | m.9113T= | CA2573321472 | MT-ATP6 | c.587T= (p.Leu196=) | |
| MT | m.9114A= | CA2499566122 | MT-ATP6 | c.588A= (p.Leu196=) | |
| MT | m.9114A>C | CA913181206 | MT-ATP6 | c.588A>C (p.Leu196=) | |
| MT | m.9114A>G | CA913181205 | MT-ATP6 | c.588A>G (p.Leu196=) | dbSNP |
| MT | m.9114A>T | CA913181204 | MT-ATP6 | c.588A>T (p.Leu196=) | |
| MT | m.9115A= | CA2499566123 | MT-ATP6 | c.589A= (p.Ile197=) | |
| MT | m.9115A>C | CA414802242 | MT-ATP6 | c.589A>C (p.Ile197Leu) | |
| MT | m.9115A>G | CA414802243 | MT-ATP6 | c.589A>G (p.Ile197Val) | ClinVar dbSNP |
| MT | m.9115A>T | CA414802244 | MT-ATP6 | c.589A>T (p.Ile197Phe) | |
| MT | m.9116T>A | CA414802245 | MT-ATP6 | c.590T>A (p.Ile197Asn) | |
| MT | m.9116T>C | CA337098216 | MT-ATP6 | c.590T>C (p.Ile197Thr) | ClinVar dbSNP |
| MT | m.9116T>G | CA414802246 | MT-ATP6 | c.590T>G (p.Ile197Ser) | |
| MT | m.9116T= | CA2499566124 | MT-ATP6 | c.590T= (p.Ile197=) | |
| MT | m.9117T>A | CA913181209 | MT-ATP6 | c.591T>A (p.Ile197=) | |
| MT | m.9117T>C | CA913181207 | MT-ATP6 | c.591T>C (p.Ile197=) | dbSNP |
| MT | m.9117T>G | CA414802247 | MT-ATP6 | c.591T>G (p.Ile197Met) | |
| MT | m.9117T= | CA2499566125 | MT-ATP6 | c.591T= (p.Ile197=) | |
| MT | m.9118C>A | CA414802248 | MT-ATP6 | c.592C>A (p.Leu198Ile) | |
| MT | m.9118C= | CA2499566126 | MT-ATP6 | c.592C= (p.Leu198=) | |
| MT | m.9118C>G | CA337098218 | MT-ATP6 | c.592C>G (p.Leu198Val) | dbSNP |
| MT | m.9118C>T | CA913181212 | MT-ATP6 | c.592C>T (p.Leu198=) | dbSNP |
| MT | m.9119T>A | CA414802249 | MT-ATP6 | c.593T>A (p.Leu198Gln) | |
| MT | m.9119T>C | CA414802250 | MT-ATP6 | c.593T>C (p.Leu198Pro) | |
| MT | m.9119T>G | CA414802251 | MT-ATP6 | c.593T>G (p.Leu198Arg) | |
| MT | m.9119T= | CA2573321515 | MT-ATP6 | c.593T= (p.Leu198=) | |
| MT | m.9120A= | CA2499566127 | MT-ATP6 | c.594A= (p.Leu198=) | |
| MT | m.9120A>C | CA913181214 | MT-ATP6 | c.594A>C (p.Leu198=) | |
| MT | m.9120A>G | CA337098219 | MT-ATP6 | c.594A>G (p.Leu198=) | dbSNP |
| MT | m.9120A>T | CA913181213 | MT-ATP6 | c.594A>T (p.Leu198=) | |
| MT | m.9121C>A | CA414802252 | MT-ATP6 | c.595C>A (p.Leu199Met) | |
| MT | m.9121C= | CA2499566128 | MT-ATP6 | c.595C= (p.Leu199=) | |
| MT | m.9121C>G | CA414802253 | MT-ATP6 | c.595C>G (p.Leu199Val) | |
| MT | m.9121C>T | CA913181217 | MT-ATP6 | c.595C>T (p.Leu199=) | dbSNP |
| MT | m.9122T>A | CA414802256 | MT-ATP6 | c.596T>A (p.Leu199Gln) | |
| MT | m.9122T>C | CA414802255 | MT-ATP6 | c.596T>C (p.Leu199Pro) | |
| MT | m.9122T>G | CA414802254 | MT-ATP6 | c.596T>G (p.Leu199Arg) | ClinVar dbSNP |
| MT | m.9122T= | CA2499566129 | MT-ATP6 | c.596T= (p.Leu199=) | |
| MT | m.9123G>A | CA337098221 | MT-ATP6 | c.597G>A (p.Leu199=) | dbSNP COSMIC COSMIC |
| MT | m.9123G>C | CA913181222 | MT-ATP6 | c.597G>C (p.Leu199=) | dbSNP |
| MT | m.9123G= | CA2499566130 | MT-ATP6 | c.597G= (p.Leu199=) | |
| MT | m.9123G>T | CA913181221 | MT-ATP6 | c.597G>T (p.Leu199=) | dbSNP |
| MT | m.9124A= | CA2499566131 | MT-ATP6 | c.598A= (p.Thr200=) | |
| MT | m.9124A>C | CA414802257 | MT-ATP6 | c.598A>C (p.Thr200Pro) | |
| MT | m.9124A>G | CA414802258 | MT-ATP6 | c.598A>G (p.Thr200Ala) | dbSNP |
| MT | m.9124A>T | CA414802259 | MT-ATP6 | c.598A>T (p.Thr200Ser) | |
| MT | m.9125C>A | CA414802260 | MT-ATP6 | c.599C>A (p.Thr200Asn) | |
| MT | m.9125C= | CA2499566132 | MT-ATP6 | c.599C= (p.Thr200=) | |
| MT | m.9125C>G | CA414802261 | MT-ATP6 | c.599C>G (p.Thr200Ser) | |
| MT | m.9125C>T | CA414802262 | MT-ATP6 | c.599C>T (p.Thr200Ile) | ClinVar dbSNP |
| MT | m.9126T>A | CA913181230 | MT-ATP6 | c.600T>A (p.Thr200=) | dbSNP |
| MT | m.9126T>C | CA913181229 | MT-ATP6 | c.600T>C (p.Thr200=) | dbSNP |
| MT | m.9126T>G | CA913181228 | MT-ATP6 | c.600T>G (p.Thr200=) | |
| MT | m.9126T= | CA2499566133 | MT-ATP6 | c.600T= (p.Thr200=) | |
| MT | m.9127A= | CA2499566134 | MT-ATP6 | c.601A= (p.Ile201=) | |
| MT | m.9127A>C | CA337098223 | MT-ATP6 | c.601A>C (p.Ile201Leu) | |
| MT | m.9127A>G | CA414802263 | MT-ATP6 | c.601A>G (p.Ile201Val) | ClinVar dbSNP |
| MT | m.9127A>T | CA337098234 | MT-ATP6 | c.601A>T (p.Ile201Phe) | |
| MT | m.9128T>A | CA414802264 | MT-ATP6 | c.602T>A (p.Ile201Asn) | |
| MT | m.9128T>C | CA337098235 | MT-ATP6 | c.602T>C (p.Ile201Thr) | ClinVar dbSNP |
| MT | m.9128T>G | CA414802265 | MT-ATP6 | c.602T>G (p.Ile201Ser) | |
| MT | m.9128T= | CA2499566135 | MT-ATP6 | c.602T= (p.Ile201=) | |
| MT | m.9129C>A | CA913181234 | MT-ATP6 | c.603C>A (p.Ile201=) | |
| MT | m.9129C= | CA2499566136 | MT-ATP6 | c.603C= (p.Ile201=) | |
| MT | m.9129C>G | CA414802266 | MT-ATP6 | c.603C>G (p.Ile201Met) | |
| MT | m.9129C>T | CA913181233 | MT-ATP6 | c.603C>T (p.Ile201=) | dbSNP |
| MT | m.9130C>A | CA414802267 | MT-ATP6 | c.604C>A (p.Leu202Ile) | ClinVar dbSNP |
| MT | m.9130C= | CA2499566137 | MT-ATP6 | c.604C= (p.Leu202=) | |
| MT | m.9130C>G | CA414802268 | MT-ATP6 | c.604C>G (p.Leu202Val) | |
| MT | m.9130C>T | CA913181236 | MT-ATP6 | c.604C>T (p.Leu202=) | dbSNP |
| MT | m.9131T>A | CA414802269 | MT-ATP6 | c.605T>A (p.Leu202Gln) | |
| MT | m.9131T>C | CA414802270 | MT-ATP6 | c.605T>C (p.Leu202Pro) | |
| MT | m.9131T>G | CA414802271 | MT-ATP6 | c.605T>G (p.Leu202Arg) | |
| MT | m.9131T= | CA2573321570 | MT-ATP6 | c.605T= (p.Leu202=) | |
| MT | m.9132A= | CA2499566138 | MT-ATP6 | c.606A= (p.Leu202=) | |
| MT | m.9132A>C | CA913181243 | MT-ATP6 | c.606A>C (p.Leu202=) | |
| MT | m.9132A>G | CA913181242 | MT-ATP6 | c.606A>G (p.Leu202=) | dbSNP |
| MT | m.9132A>T | CA913181240 | MT-ATP6 | c.606A>T (p.Leu202=) | |
| MT | m.9133G>A | CA414802272 | MT-ATP6 | c.607G>A (p.Glu203Lys) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.9133G>C | CA414802273 | MT-ATP6 | c.607G>C (p.Glu203Gln) | |
| MT | m.9133G= | CA2499566139 | MT-ATP6 | c.607G= (p.Glu203=) | |
| MT | m.9133G>T | CA414802274 | MT-ATP6 | c.607G>T (p.Glu203Ter) | |
| MT | m.9134A= | CA2499566140 | MT-ATP6 | c.608A= (p.Glu203=) | |
| MT | m.9134A>C | CA414802275 | MT-ATP6 | c.608A>C (p.Glu203Ala) | |
| MT | m.9134A>G | CA414802276 | MT-ATP6 | c.608A>G (p.Glu203Gly) | ClinVar dbSNP |
| MT | m.9134A>T | CA414802277 | MT-ATP6 | c.608A>T (p.Glu203Val) | |
| MT | m.9135A= | CA2512971639 | MT-ATP6 | c.609A= (p.Glu203=) | |
| MT | m.9135A>C | CA414802278 | MT-ATP6 | c.609A>C (p.Glu203Asp) | |
| MT | m.9135A>G | CA913181247 | MT-ATP6 | c.609A>G (p.Glu203=) | dbSNP |
| MT | m.9135A>T | CA414802279 | MT-ATP6 | c.609A>T (p.Glu203Asp) | |
| MT | m.9136A= | CA2509188088 | MT-ATP6 | c.610A= (p.Ile204=) | |
| MT | m.9136A>C | CA414802281 | MT-ATP6 | c.610A>C (p.Ile204Leu) | |
| MT | m.9136A>G | CA414802282 | MT-ATP6 | c.610A>G (p.Ile204Val) | |
| MT | m.9136A>T | CA414802280 | MT-ATP6 | c.610A>T (p.Ile204Phe) | |
| MT | m.9137T>A | CA414802283 | MT-ATP6 | c.611T>A (p.Ile204Asn) | |
| MT | m.9137T>C | CA414802285 | MT-ATP6 | c.611T>C (p.Ile204Thr) | ClinVar dbSNP |
| MT | m.9137T>G | CA414802284 | MT-ATP6 | c.611T>G (p.Ile204Ser) | |
| MT | m.9137T= | CA2499566141 | MT-ATP6 | c.611T= (p.Ile204=) | |
| MT | m.9138C>A | CA913181253 | MT-ATP6 | c.612C>A (p.Ile204=) | |
| MT | m.9138C= | CA2499566142 | MT-ATP6 | c.612C= (p.Ile204=) | |
| MT | m.9138C>G | CA414802286 | MT-ATP6 | c.612C>G (p.Ile204Met) | |
| MT | m.9138C>T | CA913181252 | MT-ATP6 | c.612C>T (p.Ile204=) | dbSNP |