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.9062_16052del | CA2580618296 | |||
| 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 |
| MT | m.9139G>A | CA337098238 | MT-ATP6 | c.613G>A (p.Ala205Thr) | ClinVar dbSNP |
| MT | m.9139G>C | CA414802287 | MT-ATP6 | c.613G>C (p.Ala205Pro) | |
| MT | m.9139G= | CA2499566143 | MT-ATP6 | c.613G= (p.Ala205=) | |
| MT | m.9139G>T | CA414802288 | MT-ATP6 | c.613G>T (p.Ala205Ser) | |
| MT | m.9140C>A | CA414802289 | MT-ATP6 | c.614C>A (p.Ala205Asp) | |
| MT | m.9140C= | CA2499566144 | MT-ATP6 | c.614C= (p.Ala205=) | |
| MT | m.9140C>G | CA414802290 | MT-ATP6 | c.614C>G (p.Ala205Gly) | |
| MT | m.9140C>T | CA337098239 | MT-ATP6 | c.614C>T (p.Ala205Val) | ClinVar dbSNP |
| MT | m.9141T>A | CA913181259 | MT-ATP6 | c.615T>A (p.Ala205=) | |
| MT | m.9141T>C | CA913181258 | MT-ATP6 | c.615T>C (p.Ala205=) | dbSNP |
| MT | m.9141T>G | CA913181257 | MT-ATP6 | c.615T>G (p.Ala205=) | |
| MT | m.9141T= | CA2499566145 | MT-ATP6 | c.615T= (p.Ala205=) | |
| MT | m.9142G>A | CA337098241 | MT-ATP6 | c.616G>A (p.Val206Ile) | ClinVar dbSNP |
| MT | m.9142G>C | CA414802291 | MT-ATP6 | c.616G>C (p.Val206Leu) | dbSNP |
| MT | m.9142G= | CA2499566146 | MT-ATP6 | c.616G= (p.Val206=) | |
| MT | m.9142G>T | CA414802292 | MT-ATP6 | c.616G>T (p.Val206Phe) | |
| MT | m.9143T>A | CA414802295 | MT-ATP6 | c.617T>A (p.Val206Asp) | |
| MT | m.9143T>C | CA414802294 | MT-ATP6 | c.617T>C (p.Val206Ala) | |
| MT | m.9143T>G | CA414802293 | MT-ATP6 | c.617T>G (p.Val206Gly) | |
| MT | m.9143T= | CA2573321616 | MT-ATP6 | c.617T= (p.Val206=) | |
| MT | m.9144C>A | CA913181262 | MT-ATP6 | c.618C>A (p.Val206=) | |
| MT | m.9144C= | CA2573321619 | MT-ATP6 | c.618C= (p.Val206=) | |
| MT | m.9144C>G | CA913181261 | MT-ATP6 | c.618C>G (p.Val206=) | |
| MT | m.9144C>T | CA913181260 | MT-ATP6 | c.618C>T (p.Val206=) | |
| MT | m.9145G>A | CA414802296 | MT-ATP6 | c.619G>A (p.Ala207Thr) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.9145G>C | CA414802297 | MT-ATP6 | c.619G>C (p.Ala207Pro) | |
| MT | m.9145G= | CA2499566147 | MT-ATP6 | c.619G= (p.Ala207=) | |
| MT | m.9145G>T | CA414802298 | MT-ATP6 | c.619G>T (p.Ala207Ser) | |
| MT | m.9146C>A | CA414802299 | MT-ATP6 | c.620C>A (p.Ala207Asp) | |
| MT | m.9146C= | CA2573321627 | MT-ATP6 | c.620C= (p.Ala207=) | |
| MT | m.9146C>G | CA414802300 | MT-ATP6 | c.620C>G (p.Ala207Gly) | |
| MT | m.9146C>T | CA414802301 | MT-ATP6 | c.620C>T (p.Ala207Val) | |
| MT | m.9147C>A | CA913181267 | MT-ATP6 | c.621C>A (p.Ala207=) | |
| MT | m.9147C= | CA2573321632 | MT-ATP6 | c.621C= (p.Ala207=) | |
| MT | m.9147C>G | CA913181266 | MT-ATP6 | c.621C>G (p.Ala207=) | |
| MT | m.9147C>T | CA913181265 | MT-ATP6 | c.621C>T (p.Ala207=) | |
| MT | m.9148T>A | CA414802302 | MT-ATP6 | c.622T>A (p.Leu208Ile) | |
| MT | m.9148T>C | CA913181269 | MT-ATP6 | c.622T>C (p.Leu208=) | dbSNP |
| MT | m.9148T>G | CA414802303 | MT-ATP6 | c.622T>G (p.Leu208Val) | |
| MT | m.9148T= | CA2499566148 | MT-ATP6 | c.622T= (p.Leu208=) | |
| MT | m.9149T>A | CA414802304 | MT-ATP6 | c.623T>A (p.Leu208Ter) | |
| MT | m.9149T>C | CA414802305 | MT-ATP6 | c.623T>C (p.Leu208Ser) | |
| MT | m.9149T>G | CA414802306 | MT-ATP6 | c.623T>G (p.Leu208Ter) | |
| MT | m.9149T= | CA2573321639 | MT-ATP6 | c.623T= (p.Leu208=) | |
| MT | m.9150A= | CA2499566149 | MT-ATP6 | c.624A= (p.Leu208=) | |
| MT | m.9150A>C | CA337098244 | MT-ATP6 | c.624A>C (p.Leu208Phe) | |
| MT | m.9150A>G | CA913181272 | MT-ATP6 | c.624A>G (p.Leu208=) | dbSNP |
| MT | m.9150A>T | CA337098246 | MT-ATP6 | c.624A>T (p.Leu208Phe) | |
| MT | m.9151A= | CA2499566150 | MT-ATP6 | c.625A= (p.Ile209=) | |
| MT | m.9151A>C | CA414802307 | MT-ATP6 | c.625A>C (p.Ile209Leu) | |
| MT | m.9151A>G | CA337098248 | MT-ATP6 | c.625A>G (p.Ile209Val) | ClinVar dbSNP |
| MT | m.9151A>T | CA414802308 | MT-ATP6 | c.625A>T (p.Ile209Phe) | |
| MT | m.9152T>A | CA414802309 | MT-ATP6 | c.626T>A (p.Ile209Asn) | |
| MT | m.9152T>C | CA10581404 | MT-ATP6 | c.626T>C (p.Ile209Thr) | ClinVar dbSNP |
| MT | m.9152T>G | CA414802310 | MT-ATP6 | c.626T>G (p.Ile209Ser) | |
| MT | m.9152T= | CA2499566151 | MT-ATP6 | c.626T= (p.Ile209=) | |
| MT | m.9153C>A | CA913181276 | MT-ATP6 | c.627C>A (p.Ile209=) | |
| MT | m.9153C= | CA2573321666 | MT-ATP6 | c.627C= (p.Ile209=) | |
| MT | m.9153C>G | CA414802311 | MT-ATP6 | c.627C>G (p.Ile209Met) | |
| MT | m.9153C>T | CA913181275 | MT-ATP6 | c.627C>T (p.Ile209=) | |
| MT | m.9154C>A | CA414802312 | MT-ATP6 | c.628C>A (p.Gln210Lys) | |
| MT | m.9154C= | CA2573321672 | MT-ATP6 | c.628C= (p.Gln210=) | |
| MT | m.9154C>G | CA414802313 | MT-ATP6 | c.628C>G (p.Gln210Glu) | |
| MT | m.9154C>T | CA414802314 | MT-ATP6 | c.628C>T (p.Gln210Ter) | |
| MT | m.9155A= | CA2573321679 | MT-ATP6 | c.629A= (p.Gln210=) | |
| MT | m.9155A>C | CA414802315 | MT-ATP6 | c.629A>C (p.Gln210Pro) | |
| MT | m.9155A>G | CA414802316 | MT-ATP6 | c.629A>G (p.Gln210Arg) | ClinVar |
| MT | m.9155A>T | CA414802317 | MT-ATP6 | c.629A>T (p.Gln210Leu) | |
| MT | m.9156del | CA2573105024 | MT-ATP6 | c.630del (p.Ala211ProfsTer7) | |
| MT | m.9156A= | CA2499566152 | MT-ATP6 | c.630A= (p.Gln210=) | |
| MT | m.9156A>C | CA414802318 | MT-ATP6 | c.630A>C (p.Gln210His) | |
| MT | m.9156A>G | CA337098251 | MT-ATP6 | c.630A>G (p.Gln210=) | dbSNP |
| MT | m.9156A>T | CA414802319 | MT-ATP6 | c.630A>T (p.Gln210His) | |
| MT | m.9157G>A | CA414802320 | MT-ATP6 | c.631G>A (p.Ala211Thr) | ClinVar dbSNP |
| MT | m.9157G>C | CA414802321 | MT-ATP6 | c.631G>C (p.Ala211Pro) | |
| MT | m.9157G= | CA2499566153 | MT-ATP6 | c.631G= (p.Ala211=) | |
| MT | m.9157G>T | CA414802322 | MT-ATP6 | c.631G>T (p.Ala211Ser) | |
| MT | m.9158C>A | CA414802323 | MT-ATP6 | c.632C>A (p.Ala211Asp) | |
| MT | m.9158C= | CA2573321687 | MT-ATP6 | c.632C= (p.Ala211=) | |
| MT | m.9158C>G | CA414802324 | MT-ATP6 | c.632C>G (p.Ala211Gly) | |
| MT | m.9158C>T | CA414802325 | MT-ATP6 | c.632C>T (p.Ala211Val) | |
| MT | m.9159C>A | CA913181282 | MT-ATP6 | c.633C>A (p.Ala211=) | |
| MT | m.9159C= | CA2573321691 | MT-ATP6 | c.633C= (p.Ala211=) | |
| MT | m.9159C>G | CA913181281 | MT-ATP6 | c.633C>G (p.Ala211=) | |
| MT | m.9159C>T | CA913181280 | MT-ATP6 | c.633C>T (p.Ala211=) | |
| MT | m.9160T>A | CA414802326 | MT-ATP6 | c.634T>A (p.Tyr212Asn) | |
| MT | m.9160T>C | CA414802327 | MT-ATP6 | c.634T>C (p.Tyr212His) | ClinVar dbSNP |
| MT | m.9160T>G | CA414802328 | MT-ATP6 | c.634T>G (p.Tyr212Asp) | |
| MT | m.9160T= | CA2499566154 | MT-ATP6 | c.634T= (p.Tyr212=) | |
| MT | m.9161A= | CA2573321701 | MT-ATP6 | c.635A= (p.Tyr212=) | |
| MT | m.9161A>C | CA414802329 | MT-ATP6 | c.635A>C (p.Tyr212Ser) | |
| MT | m.9161A>G | CA414802331 | MT-ATP6 | c.635A>G (p.Tyr212Cys) | |
| MT | m.9161A>T | CA414802330 | MT-ATP6 | c.635A>T (p.Tyr212Phe) | |
| MT | m.9162C>A | CA414802332 | MT-ATP6 | c.636C>A (p.Tyr212Ter) | |
| MT | m.9162C= | CA2499566155 | MT-ATP6 | c.636C= (p.Tyr212=) | |
| MT | m.9162C>G | CA414802333 | MT-ATP6 | c.636C>G (p.Tyr212Ter) | |
| MT | m.9162C>T | CA913181287 | MT-ATP6 | c.636C>T (p.Tyr212=) | dbSNP |
| MT | m.9163G>A | CA337098253 | MT-ATP6 | c.637G>A (p.Val213Ile) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.9163G>C | CA414802335 | MT-ATP6 | c.637G>C (p.Val213Leu) | |
| MT | m.9163G= | CA2499566156 | MT-ATP6 | c.637G= (p.Val213=) | |
| MT | m.9163G>T | CA414802334 | MT-ATP6 | c.637G>T (p.Val213Phe) | |
| MT | m.9164T>A | CA414802336 | MT-ATP6 | c.638T>A (p.Val213Asp) | |
| MT | m.9164T>C | CA414802337 | MT-ATP6 | c.638T>C (p.Val213Ala) | |
| MT | m.9164T>G | CA414802338 | MT-ATP6 | c.638T>G (p.Val213Gly) | |
| MT | m.9164T= | CA2573321724 | MT-ATP6 | c.638T= (p.Val213=) | |
| MT | m.9165T>A | CA913181291 | MT-ATP6 | c.639T>A (p.Val213=) | |
| MT | m.9165T>C | CA913181290 | MT-ATP6 | c.639T>C (p.Val213=) | dbSNP |
| MT | m.9165T>G | CA913181289 | MT-ATP6 | c.639T>G (p.Val213=) | |
| MT | m.9165T= | CA2499566157 | MT-ATP6 | c.639T= (p.Val213=) | |
| MT | m.9166T>A | CA414802339 | MT-ATP6 | c.640T>A (p.Phe214Ile) | |
| MT | m.9166T>C | CA16040651 | MT-ATP6 | c.640T>C (p.Phe214Leu) | ClinVar dbSNP |
| MT | m.9166T>G | CA414802340 | MT-ATP6 | c.640T>G (p.Phe214Val) | |
| MT | m.9166T= | CA2499566158 | MT-ATP6 | c.640T= (p.Phe214=) | |
| MT | m.9167T>A | CA414802341 | MT-ATP6 | c.641T>A (p.Phe214Tyr) | |
| MT | m.9167T>C | CA414802342 | MT-ATP6 | c.641T>C (p.Phe214Ser) | ClinVar dbSNP |
| MT | m.9167T>G | CA414802343 | MT-ATP6 | c.641T>G (p.Phe214Cys) | |
| MT | m.9167T= | CA2499566159 | MT-ATP6 | c.641T= (p.Phe214=) | |
| MT | m.9168C>A | CA414802344 | MT-ATP6 | c.642C>A (p.Phe214Leu) | |
| MT | m.9168C= | CA2573321740 | MT-ATP6 | c.642C= (p.Phe214=) | |
| MT | m.9168C>G | CA414802345 | MT-ATP6 | c.642C>G (p.Phe214Leu) | |
| MT | m.9168C>T | CA913181299 | MT-ATP6 | c.642C>T (p.Phe214=) | |
| MT | m.9169A= | CA2499566160 | MT-ATP6 | c.643A= (p.Thr215=) | |
| MT | m.9169A>C | CA414802346 | MT-ATP6 | c.643A>C (p.Thr215Pro) | |
| MT | m.9169A>G | CA414802348 | MT-ATP6 | c.643A>G (p.Thr215Ala) | ClinVar dbSNP |
| MT | m.9169A>T | CA414802347 | MT-ATP6 | c.643A>T (p.Thr215Ser) | |
| MT | m.9170C>A | CA414802349 | MT-ATP6 | c.644C>A (p.Thr215Lys) | |
| MT | m.9170C= | CA2499566161 | MT-ATP6 | c.644C= (p.Thr215=) | |
| MT | m.9170C>G | CA414802350 | MT-ATP6 | c.644C>G (p.Thr215Arg) | |
| MT | m.9170C>T | CA414802351 | MT-ATP6 | c.644C>T (p.Thr215Ile) | ClinVar dbSNP |