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.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | 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.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.12609T>A | CA913170424 | MT-ND5 | c.273T>A (p.Pro91=) | |
| MT | m.12609T>C | CA337099508 | MT-ND5 | c.273T>C (p.Pro91=) | dbSNP |
| MT | m.12609T>G | CA913170423 | MT-ND5 | c.273T>G (p.Pro91=) | |
| MT | m.12609T= | CA2499567656 | MT-ND5 | c.273T= (p.Pro91=) | |
| MT | m.12610G>A | CA414813998 | MT-ND5 | c.274G>A (p.Val92Ile) | |
| MT | m.12610G>C | CA414813999 | MT-ND5 | c.274G>C (p.Val92Leu) | |
| MT | m.12610G= | CA2573329793 | MT-ND5 | c.274G= (p.Val92=) | |
| MT | m.12610G>T | CA414814001 | MT-ND5 | c.274G>T (p.Val92Leu) | |
| MT | m.12611T>A | CA414814004 | MT-ND5 | c.275T>A (p.Val92Glu) | |
| MT | m.12611T>C | CA414814005 | MT-ND5 | c.275T>C (p.Val92Ala) | |
| MT | m.12611T>G | CA414814006 | MT-ND5 | c.275T>G (p.Val92Gly) | |
| MT | m.12611T= | CA2573329794 | MT-ND5 | c.275T= (p.Val92=) | |
| MT | m.12612A= | CA2499567657 | MT-ND5 | c.276A= (p.Val92=) | |
| MT | m.12612A>C | CA337099509 | MT-ND5 | c.276A>C (p.Val92=) | dbSNP |
| MT | m.12612A>G | CA337099510 | MT-ND5 | c.276A>G (p.Val92=) | dbSNP |
| MT | m.12612A>T | CA337099511 | MT-ND5 | c.276A>T (p.Val92=) | |
| MT | m.12613G>A | CA414814013 | MT-ND5 | c.277G>A (p.Ala93Thr) | |
| MT | m.12613G>C | CA414814014 | MT-ND5 | c.277G>C (p.Ala93Pro) | |
| MT | m.12613G= | CA2499567658 | MT-ND5 | c.277G= (p.Ala93=) | |
| MT | m.12613G>T | CA414814016 | MT-ND5 | c.277G>T (p.Ala93Ser) | ClinVar dbSNP |
| MT | m.12614C>A | CA414814018 | MT-ND5 | c.278C>A (p.Ala93Glu) | |
| MT | m.12614C= | CA2573329798 | MT-ND5 | c.278C= (p.Ala93=) | |
| MT | m.12614C>G | CA414814020 | MT-ND5 | c.278C>G (p.Ala93Gly) | |
| MT | m.12614C>T | CA414814022 | MT-ND5 | c.278C>T (p.Ala93Val) | |
| MT | m.12615A= | CA2573329800 | MT-ND5 | c.279A= (p.Ala93=) | |
| MT | m.12615A>C | CA913170427 | MT-ND5 | c.279A>C (p.Ala93=) | |
| MT | m.12615A>G | CA913170426 | MT-ND5 | c.279A>G (p.Ala93=) | |
| MT | m.12615A>T | CA913170425 | MT-ND5 | c.279A>T (p.Ala93=) | |
| MT | m.12616T>A | CA414814024 | MT-ND5 | c.280T>A (p.Leu94Met) | |
| MT | m.12616T>C | CA913170428 | MT-ND5 | c.280T>C (p.Leu94=) | dbSNP |
| MT | m.12616T>G | CA414814026 | MT-ND5 | c.280T>G (p.Leu94Val) | |
| MT | m.12616T= | CA2499567659 | MT-ND5 | c.280T= (p.Leu94=) | |
| MT | m.12617T>A | CA414814029 | MT-ND5 | c.281T>A (p.Leu94Ter) | |
| MT | m.12617T>C | CA414814030 | MT-ND5 | c.281T>C (p.Leu94Ser) | |
| MT | m.12617T>G | CA414814032 | MT-ND5 | c.281T>G (p.Leu94Trp) | |
| MT | m.12617T= | CA2573329802 | MT-ND5 | c.281T= (p.Leu94=) | |
| MT | m.12618G>A | CA337099512 | MT-ND5 | c.282G>A (p.Leu94=) | dbSNP COSMIC |
| MT | m.12618G>C | CA414814037 | MT-ND5 | c.282G>C (p.Leu94Phe) | |
| MT | m.12618G= | CA2499567660 | MT-ND5 | c.282G= (p.Leu94=) | |
| MT | m.12618G>T | CA414814035 | MT-ND5 | c.282G>T (p.Leu94Phe) | |
| MT | m.12619T>A | CA414814039 | MT-ND5 | c.283T>A (p.Phe95Ile) | |
| MT | m.12619T>C | CA414814041 | MT-ND5 | c.283T>C (p.Phe95Leu) | |
| MT | m.12619T>G | CA414814043 | MT-ND5 | c.283T>G (p.Phe95Val) | |
| MT | m.12619T= | CA2573329803 | MT-ND5 | c.283T= (p.Phe95=) | |
| MT | m.12620T>A | CA414814045 | MT-ND5 | c.284T>A (p.Phe95Tyr) | |
| MT | m.12620T>C | CA414814047 | MT-ND5 | c.284T>C (p.Phe95Ser) | dbSNP |
| MT | m.12620T>G | CA414814049 | MT-ND5 | c.284T>G (p.Phe95Cys) | |
| MT | m.12620T= | CA2499567661 | MT-ND5 | c.284T= (p.Phe95=) | |
| MT | m.12621C>A | CA414814052 | MT-ND5 | c.285C>A (p.Phe95Leu) | |
| MT | m.12621C= | CA2499567662 | MT-ND5 | c.285C= (p.Phe95=) | |
| MT | m.12621C>G | CA414814054 | MT-ND5 | c.285C>G (p.Phe95Leu) | |
| MT | m.12621C>T | CA913170429 | MT-ND5 | c.285C>T (p.Phe95=) | dbSNP |
| MT | m.12622G>A | CA414814056 | MT-ND5 | c.286G>A (p.Val96Ile) | ClinVar dbSNP |
| MT | m.12622G>C | CA414814058 | MT-ND5 | c.286G>C (p.Val96Leu) | |
| MT | m.12622G= | CA2499567663 | MT-ND5 | c.286G= (p.Val96=) | |
| MT | m.12622G>T | CA414814059 | MT-ND5 | c.286G>T (p.Val96Phe) | |
| MT | m.12623T>A | CA414814065 | MT-ND5 | c.287T>A (p.Val96Asp) | |
| MT | m.12623T>C | CA414814064 | MT-ND5 | c.287T>C (p.Val96Ala) | |
| MT | m.12623T>G | CA414814062 | MT-ND5 | c.287T>G (p.Val96Gly) | |
| MT | m.12623T= | CA2573329812 | MT-ND5 | c.287T= (p.Val96=) | |
| MT | m.12624T>A | CA913170430 | MT-ND5 | c.288T>A (p.Val96=) | |
| MT | m.12624T>C | CA913170431 | MT-ND5 | c.288T>C (p.Val96=) | dbSNP |
| MT | m.12624T>G | CA913170432 | MT-ND5 | c.288T>G (p.Val96=) | |
| MT | m.12624T= | CA2499567664 | MT-ND5 | c.288T= (p.Val96=) | |
| MT | m.12625A= | CA2573329815 | MT-ND5 | c.289A= (p.Thr97=) | |
| MT | m.12625A>C | CA414814068 | MT-ND5 | c.289A>C (p.Thr97Pro) | |
| MT | m.12625A>G | CA414814070 | MT-ND5 | c.289A>G (p.Thr97Ala) | |
| MT | m.12625A>T | CA414814071 | MT-ND5 | c.289A>T (p.Thr97Ser) | |
| MT | m.12626C>A | CA414814074 | MT-ND5 | c.290C>A (p.Thr97Lys) | |
| MT | m.12626C= | CA2573329818 | MT-ND5 | c.290C= (p.Thr97=) | |
| MT | m.12626C>G | CA414814076 | MT-ND5 | c.290C>G (p.Thr97Arg) | |
| MT | m.12626C>T | CA414814078 | MT-ND5 | c.290C>T (p.Thr97Ile) | |
| MT | m.12627A= | CA2499567665 | MT-ND5 | c.291A= (p.Thr97=) | |
| MT | m.12627A>C | CA913170433 | MT-ND5 | c.291A>C (p.Thr97=) | |
| MT | m.12627A>G | CA913170434 | MT-ND5 | c.291A>G (p.Thr97=) | dbSNP |
| MT | m.12627A>T | CA913170435 | MT-ND5 | c.291A>T (p.Thr97=) | |
| MT | m.12628T>A | CA414814080 | MT-ND5 | c.292T>A (p.Trp98Arg) | |
| MT | m.12628T>C | CA414814082 | MT-ND5 | c.292T>C (p.Trp98Arg) | |
| MT | m.12628T>G | CA414814084 | MT-ND5 | c.292T>G (p.Trp98Gly) | |
| MT | m.12628T= | CA2573329821 | MT-ND5 | c.292T= (p.Trp98=) | |
| MT | m.12629G>A | CA414814086 | MT-ND5 | c.293G>A (p.Trp98Ter) | |
| MT | m.12629G>C | CA414814088 | MT-ND5 | c.293G>C (p.Trp98Ser) | |
| MT | m.12629G= | CA2573329822 | MT-ND5 | c.293G= (p.Trp98=) | |
| MT | m.12629G>T | CA414814090 | MT-ND5 | c.293G>T (p.Trp98Leu) | |
| MT | m.12630G>A | CA337099513 | MT-ND5 | c.294G>A (p.Trp98Ter) | dbSNP |
| MT | m.12630G>C | CA414814095 | MT-ND5 | c.294G>C (p.Trp98Cys) | COSMIC |
| MT | m.12630G= | CA2499567666 | MT-ND5 | c.294G= (p.Trp98=) | |
| MT | m.12630G>T | CA414814093 | MT-ND5 | c.294G>T (p.Trp98Cys) | |
| MT | m.12631T>A | CA414814097 | MT-ND5 | c.295T>A (p.Ser99Thr) | |
| MT | m.12631T>C | CA414814101 | MT-ND5 | c.295T>C (p.Ser99Pro) | ClinVar dbSNP |
| MT | m.12631T>G | CA414814099 | MT-ND5 | c.295T>G (p.Ser99Ala) | |
| MT | m.12631T= | CA2499567667 | MT-ND5 | c.295T= (p.Ser99=) | |
| MT | m.12632C>A | CA414814103 | MT-ND5 | c.296C>A (p.Ser99Tyr) | |
| MT | m.12632C= | CA2573329826 | MT-ND5 | c.296C= (p.Ser99=) | |
| MT | m.12632C>G | CA414814105 | MT-ND5 | c.296C>G (p.Ser99Cys) | |
| MT | m.12632C>T | CA414814107 | MT-ND5 | c.296C>T (p.Ser99Phe) | |
| MT | m.12633C>A | CA337099514 | MT-ND5 | c.297C>A (p.Ser99=) | dbSNP |
| MT | m.12633C= | CA2499567668 | MT-ND5 | c.297C= (p.Ser99=) | |
| MT | m.12633C>G | CA913170436 | MT-ND5 | c.297C>G (p.Ser99=) | |
| MT | m.12633C>T | CA913170437 | MT-ND5 | c.297C>T (p.Ser99=) | dbSNP |
| MT | m.12634A= | CA2499567669 | MT-ND5 | c.298A= (p.Ile100=) | |
| MT | m.12634A>C | CA414814110 | MT-ND5 | c.298A>C (p.Ile100Leu) | |
| MT | m.12634A>G | CA414814112 | MT-ND5 | c.298A>G (p.Ile100Val) | ClinVar dbSNP |
| MT | m.12634A>T | CA414814113 | MT-ND5 | c.298A>T (p.Ile100Phe) | |
| MT | m.12635T>A | CA414814116 | MT-ND5 | c.299T>A (p.Ile100Asn) | |
| MT | m.12635T>C | CA414814117 | MT-ND5 | c.299T>C (p.Ile100Thr) | dbSNP |
| MT | m.12635T>G | CA414814119 | MT-ND5 | c.299T>G (p.Ile100Ser) | |
| MT | m.12635T= | CA2513159995 | MT-ND5 | c.299T= (p.Ile100=) | |
| MT | m.12636C>A | CA913170439 | MT-ND5 | c.300C>A (p.Ile100=) | |
| MT | m.12636C= | CA2499567670 | MT-ND5 | c.300C= (p.Ile100=) | |
| MT | m.12636C>G | CA414814121 | MT-ND5 | c.300C>G (p.Ile100Met) | |
| MT | m.12636C>T | CA913170438 | MT-ND5 | c.300C>T (p.Ile100=) | dbSNP |
| MT | m.12637A= | CA2573329833 | MT-ND5 | c.301A= (p.Ile101=) | |
| MT | m.12637A>C | CA414814126 | MT-ND5 | c.301A>C (p.Ile101Leu) | |
| MT | m.12637A>G | CA414814123 | MT-ND5 | c.301A>G (p.Ile101Val) | |
| MT | m.12637A>T | CA414814124 | MT-ND5 | c.301A>T (p.Ile101Leu) | |
| MT | m.12638T>A | CA414814129 | MT-ND5 | c.302T>A (p.Ile101Lys) | |
| MT | m.12638T>C | CA414814131 | MT-ND5 | c.302T>C (p.Ile101Thr) | |
| MT | m.12638T>G | CA414814133 | MT-ND5 | c.302T>G (p.Ile101Arg) | |
| MT | m.12638T= | CA2573329835 | MT-ND5 | c.302T= (p.Ile101=) | |
| MT | m.12639A= | CA2573329836 | MT-ND5 | c.303A= (p.Ile101=) | |
| MT | m.12639A>C | CA913170441 | MT-ND5 | c.303A>C (p.Ile101=) | |
| MT | m.12639A>G | CA414814135 | MT-ND5 | c.303A>G (p.Ile101Met) | |
| MT | m.12639A>T | CA913170440 | MT-ND5 | c.303A>T (p.Ile101=) | |
| MT | m.12640G>A | CA414814138 | MT-ND5 | c.304G>A (p.Glu102Lys) | |
| MT | m.12640G>C | CA414814139 | MT-ND5 | c.304G>C (p.Glu102Gln) | |
| MT | m.12640G= | CA2573329838 | MT-ND5 | c.304G= (p.Glu102=) | |
| MT | m.12640G>T | CA414814141 | MT-ND5 | c.304G>T (p.Glu102Ter) | |
| MT | m.12641A= | CA2573329839 | MT-ND5 | c.305A= (p.Glu102=) | |
| MT | m.12641A>C | CA414814144 | MT-ND5 | c.305A>C (p.Glu102Ala) | |
| MT | m.12641A>G | CA414814145 | MT-ND5 | c.305A>G (p.Glu102Gly) | |
| MT | m.12641A>T | CA414814147 | MT-ND5 | c.305A>T (p.Glu102Val) | |
| MT | m.12642A= | CA2499567671 | MT-ND5 | c.306A= (p.Glu102=) | |
| MT | m.12642A>C | CA414814152 | MT-ND5 | c.306A>C (p.Glu102Asp) | |
| MT | m.12642A>G | CA337099515 | MT-ND5 | c.306A>G (p.Glu102=) | dbSNP |
| MT | m.12642A>T | CA414814150 | MT-ND5 | c.306A>T (p.Glu102Asp) | |
| MT | m.12643T>A | CA414814154 | MT-ND5 | c.307T>A (p.Phe103Ile) | |
| MT | m.12643T>C | CA414814156 | MT-ND5 | c.307T>C (p.Phe103Leu) | |
| MT | m.12643T>G | CA414814158 | MT-ND5 | c.307T>G (p.Phe103Val) | |
| MT | m.12643T= | CA2573329842 | MT-ND5 | c.307T= (p.Phe103=) | |
| MT | m.12644T>A | CA414814160 | MT-ND5 | c.308T>A (p.Phe103Tyr) | |
| MT | m.12644T>C | CA414814162 | MT-ND5 | c.308T>C (p.Phe103Ser) | |
| MT | m.12644T>G | CA414814164 | MT-ND5 | c.308T>G (p.Phe103Cys) | |
| MT | m.12644T= | CA2573329845 | MT-ND5 | c.308T= (p.Phe103=) | |
| MT | m.12645C>A | CA414814166 | MT-ND5 | c.309C>A (p.Phe103Leu) | |
| MT | m.12645C= | CA2499567672 | MT-ND5 | c.309C= (p.Phe103=) | |
| MT | m.12645C>G | CA414814168 | MT-ND5 | c.309C>G (p.Phe103Leu) | |
| MT | m.12645C>T | CA913170442 | MT-ND5 | c.309C>T (p.Phe103=) | dbSNP |
| MT | m.12646T>A | CA414814170 | MT-ND5 | c.310T>A (p.Ser104Thr) | |
| MT | m.12646T>C | CA414814171 | MT-ND5 | c.310T>C (p.Ser104Pro) | |
| MT | m.12646T>G | CA414814174 | MT-ND5 | c.310T>G (p.Ser104Ala) | |
| MT | m.12646T= | CA2573329849 | MT-ND5 | c.310T= (p.Ser104=) | |
| MT | m.12647C>A | CA414814180 | MT-ND5 | c.311C>A (p.Ser104Ter) | |
| MT | m.12647C= | CA2573329851 | MT-ND5 | c.311C= (p.Ser104=) | |
| MT | m.12647C>G | CA414814178 | MT-ND5 | c.311C>G (p.Ser104Ter) | |
| MT | m.12647C>T | CA414814176 | MT-ND5 | c.311C>T (p.Ser104Leu) | |
| MT | m.12648A= | CA2499567673 | MT-ND5 | c.312A= (p.Ser104=) | |
| MT | m.12648A>C | CA913170443 | MT-ND5 | c.312A>C (p.Ser104=) | dbSNP |
| MT | m.12648A>G | CA913170444 | MT-ND5 | c.312A>G (p.Ser104=) | dbSNP |
| MT | m.12648A>T | CA913170445 | MT-ND5 | c.312A>T (p.Ser104=) | |
| MT | m.12649C>A | CA414814182 | MT-ND5 | c.313C>A (p.Leu105Met) | |
| MT | m.12649C= | CA2499567674 | MT-ND5 | c.313C= (p.Leu105=) | |
| MT | m.12649C>G | CA414814184 | MT-ND5 | c.313C>G (p.Leu105Val) | |
| MT | m.12649C>T | CA913170446 | MT-ND5 | c.313C>T (p.Leu105=) | dbSNP |
| MT | m.12650T>A | CA414814187 | MT-ND5 | c.314T>A (p.Leu105Gln) | |
| MT | m.12650T>C | CA414814188 | MT-ND5 | c.314T>C (p.Leu105Pro) | |
| MT | m.12650T>G | CA414814190 | MT-ND5 | c.314T>G (p.Leu105Arg) | |
| MT | m.12650T= | CA2573329857 | MT-ND5 | c.314T= (p.Leu105=) | |
| MT | m.12651G>A | CA913170447 | MT-ND5 | c.315G>A (p.Leu105=) | dbSNP |
| MT | m.12651G>C | CA337099516 | MT-ND5 | c.315G>C (p.Leu105=) | dbSNP |
| MT | m.12651G= | CA2499567675 | MT-ND5 | c.315G= (p.Leu105=) | |
| MT | m.12651G>T | CA337099517 | MT-ND5 | c.315G>T (p.Leu105=) | |
| MT | m.12652T>A | CA414814195 | MT-ND5 | c.316T>A (p.Ter106Arg) | |
| MT | m.12652T>C | CA414814197 | MT-ND5 | c.316T>C (p.Ter106Arg) | |
| MT | m.12652T>G | CA414814199 | MT-ND5 | c.316T>G (p.Ter106Gly) | |
| MT | m.12652T= | CA414814201 | MT-ND5 | c.316T= (p.Ter106=) | |
| MT | m.12653G>A | CA414814207 | MT-ND5 | c.317G>A (p.Ter106=) | |
| MT | m.12653G>C | CA414814205 | MT-ND5 | c.317G>C (p.Ter106Ser) | |
| MT | m.12653G= | CA414814209 | MT-ND5 | c.317G= (p.Ter106=) | |
| MT | m.12653G>T | CA414814204 | MT-ND5 | c.317G>T (p.Ter106Leu) | |
| MT | m.12654A= | CA414814213 | MT-ND5 | c.318A= (p.Ter106=) | |
| MT | m.12654A>C | CA337099518 | MT-ND5 | c.318A>C (p.Ter106Cys) | |
| MT | m.12654A>G | CA337099520 | MT-ND5 | c.318A>G (p.Ter106Trp) | dbSNP |
| MT | m.12654A>T | CA337099519 | MT-ND5 | c.318A>T (p.Ter106Cys) | |
| MT | m.12655T>A | CA414814217 | MT-ND5 | c.319T>A (p.Tyr107Asn) | |
| MT | m.12655T>C | CA414814219 | MT-ND5 | c.319T>C (p.Tyr107His) | |
| MT | m.12655T>G | CA414814221 | MT-ND5 | c.319T>G (p.Tyr107Asp) | |
| MT | m.12655T= | CA2573329865 | MT-ND5 | c.319T= (p.Tyr107=) | |
| MT | m.12656A= | CA2573329867 | MT-ND5 | c.320A= (p.Tyr107=) | |
| MT | m.12656A>C | CA414814223 | MT-ND5 | c.320A>C (p.Tyr107Ser) | |
| MT | m.12656A>G | CA414814225 | MT-ND5 | c.320A>G (p.Tyr107Cys) | |
| MT | m.12656A>T | CA414814227 | MT-ND5 | c.320A>T (p.Tyr107Phe) | |
| MT | m.12657T>A | CA414814229 | MT-ND5 | c.321T>A (p.Tyr107Ter) | |
| MT | m.12657T>C | CA913170448 | MT-ND5 | c.321T>C (p.Tyr107=) | dbSNP |
| MT | m.12657T>G | CA414814231 | MT-ND5 | c.321T>G (p.Tyr107Ter) | |
| MT | m.12657T= | CA2499567676 | MT-ND5 | c.321T= (p.Tyr107=) | |
| MT | m.12658A= | CA2573329870 | MT-ND5 | c.322A= (p.Ile108=) | |
| MT | m.12658A>C | CA414814234 | MT-ND5 | c.322A>C (p.Ile108Leu) | |
| MT | m.12658A>G | CA414814235 | MT-ND5 | c.322A>G (p.Ile108Val) | |
| MT | m.12658A>T | CA414814238 | MT-ND5 | c.322A>T (p.Ile108Leu) | |
| MT | m.12659T>A | CA414814243 | MT-ND5 | c.323T>A (p.Ile108Lys) | |
| MT | m.12659T>C | CA414814240 | MT-ND5 | c.323T>C (p.Ile108Thr) | |
| MT | m.12659T>G | CA414814242 | MT-ND5 | c.323T>G (p.Ile108Arg) | |
| MT | m.12659T= | CA2573329873 | MT-ND5 | c.323T= (p.Ile108=) | |
| MT | m.12660A= | CA2573329874 | MT-ND5 | c.324A= (p.Ile108=) | |
| MT | m.12660A>C | CA913170450 | MT-ND5 | c.324A>C (p.Ile108=) | |
| MT | m.12660A>G | CA414814245 | MT-ND5 | c.324A>G (p.Ile108Met) | |
| MT | m.12660A>T | CA913170449 | MT-ND5 | c.324A>T (p.Ile108=) | |
| MT | m.12661A= | CA2499567677 | MT-ND5 | c.325A= (p.Asn109=) | |
| MT | m.12661A>C | CA414814248 | MT-ND5 | c.325A>C (p.Asn109His) | |
| MT | m.12661A>G | CA414814250 | MT-ND5 | c.325A>G (p.Asn109Asp) | |
| MT | m.12661A>T | CA414814252 | MT-ND5 | c.325A>T (p.Asn109Tyr) | ClinVar dbSNP |
| MT | m.12662A= | CA2499567678 | MT-ND5 | c.326A= (p.Asn109=) | |
| MT | m.12662A>C | CA414814254 | MT-ND5 | c.326A>C (p.Asn109Thr) | |
| MT | m.12662A>G | CA337099521 | MT-ND5 | c.326A>G (p.Asn109Ser) | ClinVar dbSNP |
| MT | m.12662A>T | CA414814257 | MT-ND5 | c.326A>T (p.Asn109Ile) | |
| MT | m.12663C>A | CA414814259 | MT-ND5 | c.327C>A (p.Asn109Lys) | |
| MT | m.12663C= | CA2573329880 | MT-ND5 | c.327C= (p.Asn109=) | |
| MT | m.12663C>G | CA414814261 | MT-ND5 | c.327C>G (p.Asn109Lys) | |
| MT | m.12663C>T | CA913170451 | MT-ND5 | c.327C>T (p.Asn109=) | |
| MT | m.12664T>A | CA414814268 | MT-ND5 | c.328T>A (p.Ser110Thr) | |
| MT | m.12664T>C | CA414814266 | MT-ND5 | c.328T>C (p.Ser110Pro) | |
| MT | m.12664T>G | CA414814264 | MT-ND5 | c.328T>G (p.Ser110Ala) | |
| MT | m.12664T= | CA2573329882 | MT-ND5 | c.328T= (p.Ser110=) | |
| MT | m.12665C>A | CA414814270 | MT-ND5 | c.329C>A (p.Ser110Ter) | |
| MT | m.12665C= | CA2513225059 | MT-ND5 | c.329C= (p.Ser110=) | |
| MT | m.12665C>G | CA414814272 | MT-ND5 | c.329C>G (p.Ser110Ter) | |
| MT | m.12665C>T | CA414814274 | MT-ND5 | c.329C>T (p.Ser110Leu) | |
| MT | m.12666A= | CA2499567679 | MT-ND5 | c.330A= (p.Ser110=) | |
| MT | m.12666A>C | CA913170454 | MT-ND5 | c.330A>C (p.Ser110=) | dbSNP |
| MT | m.12666A>G | CA913170453 | MT-ND5 | c.330A>G (p.Ser110=) | |
| MT | m.12666A>T | CA913170452 | MT-ND5 | c.330A>T (p.Ser110=) | |
| MT | m.12667G>A | CA414814276 | MT-ND5 | c.331G>A (p.Asp111Asn) | |
| MT | m.12667G>C | CA414814278 | MT-ND5 | c.331G>C (p.Asp111His) | |
| MT | m.12667G= | CA2573329886 | MT-ND5 | c.331G= (p.Asp111=) | |
| MT | m.12667G>T | CA414814280 | MT-ND5 | c.331G>T (p.Asp111Tyr) | |
| MT | m.12668A= | CA2573329890 | MT-ND5 | c.332A= (p.Asp111=) | |
| MT | m.12668A>C | CA414814282 | MT-ND5 | c.332A>C (p.Asp111Ala) | |
| MT | m.12668A>G | CA414814284 | MT-ND5 | c.332A>G (p.Asp111Gly) | |
| MT | m.12668A>T | CA414814286 | MT-ND5 | c.332A>T (p.Asp111Val) | |
| MT | m.12669C>A | CA414814287 | MT-ND5 | c.333C>A (p.Asp111Glu) | |
| MT | m.12669C= | CA2499567680 | MT-ND5 | c.333C= (p.Asp111=) | |
| MT | m.12669C>G | CA414814289 | MT-ND5 | c.333C>G (p.Asp111Glu) | |
| MT | m.12669C>T | CA337099522 | MT-ND5 | c.333C>T (p.Asp111=) | dbSNP |
| MT | m.12671del | CA2573105242 | MT-ND5 | c.335del (p.Pro112GlnfsTer14) | |
| MT | m.12670C>A | CA414814296 | MT-ND5 | c.334C>A (p.Pro112Thr) | |
| MT | m.12670C= | CA2499567681 | MT-ND5 | c.334C= (p.Pro112=) | |
| MT | m.12670C>G | CA414814293 | MT-ND5 | c.334C>G (p.Pro112Ala) | |
| MT | m.12670C>T | CA337099523 | MT-ND5 | c.334C>T (p.Pro112Ser) | dbSNP |
| MT | m.12671C>A | CA414814299 | MT-ND5 | c.335C>A (p.Pro112Gln) | |
| MT | m.12671C= | CA2573329897 | MT-ND5 | c.335C= (p.Pro112=) | |
| MT | m.12671C>G | CA414814300 | MT-ND5 | c.335C>G (p.Pro112Arg) | |
| MT | m.12671C>T | CA414814302 | MT-ND5 | c.335C>T (p.Pro112Leu) | |
| MT | m.12672A= | CA2499567682 | MT-ND5 | c.336A= (p.Pro112=) | |
| MT | m.12672A>C | CA913170455 | MT-ND5 | c.336A>C (p.Pro112=) | dbSNP |
| MT | m.12672A>G | CA913170456 | MT-ND5 | c.336A>G (p.Pro112=) | dbSNP |
| MT | m.12672A>T | CA913170457 | MT-ND5 | c.336A>T (p.Pro112=) | |
| MT | m.12673A= | CA2499567683 | MT-ND5 | c.337A= (p.Asn113=) | |
| MT | m.12673A>C | CA414814306 | MT-ND5 | c.337A>C (p.Asn113His) | |
| MT | m.12673A>G | CA414814307 | MT-ND5 | c.337A>G (p.Asn113Asp) | ClinVar dbSNP |
| MT | m.12673A>T | CA414814309 | MT-ND5 | c.337A>T (p.Asn113Tyr) | |
| MT | m.12674A= | CA2499567684 | MT-ND5 | c.338A= (p.Asn113=) | |
| MT | m.12674A>C | CA414814312 | MT-ND5 | c.338A>C (p.Asn113Thr) | |
| MT | m.12674A>G | CA414814313 | MT-ND5 | c.338A>G (p.Asn113Ser) | ClinVar dbSNP |
| MT | m.12674A>T | CA414814315 | MT-ND5 | c.338A>T (p.Asn113Ile) | |
| MT | m.12675C>A | CA414814316 | MT-ND5 | c.339C>A (p.Asn113Lys) | |
| MT | m.12675C= | CA2499567685 | MT-ND5 | c.339C= (p.Asn113=) | |
| MT | m.12675C>G | CA414814318 | MT-ND5 | c.339C>G (p.Asn113Lys) | |
| MT | m.12675C>T | CA913170458 | MT-ND5 | c.339C>T (p.Asn113=) | dbSNP |
| MT | m.12676A= | CA2573329902 | MT-ND5 | c.340A= (p.Ile114=) | |
| MT | m.12676A>C | CA414814325 | MT-ND5 | c.340A>C (p.Ile114Leu) | |
| MT | m.12676A>G | CA414814322 | MT-ND5 | c.340A>G (p.Ile114Val) | |
| MT | m.12676A>T | CA414814321 | MT-ND5 | c.340A>T (p.Ile114Phe) | |
| MT | m.12677_12679del | CA2573105243 | MT-ND5 | c.341_343del (p.Ile114del) | |
| MT | m.12677T>A | CA414814328 | MT-ND5 | c.341T>A (p.Ile114Asn) | |
| MT | m.12677T>C | CA414814327 | MT-ND5 | c.341T>C (p.Ile114Thr) | |
| MT | m.12677T>G | CA414814330 | MT-ND5 | c.341T>G (p.Ile114Ser) | |
| MT | m.12677T= | CA2573329903 | MT-ND5 | c.341T= (p.Ile114=) | |
| MT | m.12678T>A | CA913170459 | MT-ND5 | c.342T>A (p.Ile114=) | |
| MT | m.12678T>C | CA337099524 | MT-ND5 | c.342T>C (p.Ile114=) | dbSNP |
| MT | m.12678T>G | CA414814333 | MT-ND5 | c.342T>G (p.Ile114Met) | |
| MT | m.12678T= | CA2499567686 | MT-ND5 | c.342T= (p.Ile114=) | |
| MT | m.12679A= | CA2573329906 | MT-ND5 | c.343A= (p.Asn115=) | |
| MT | m.12679A>C | CA414814336 | MT-ND5 | c.343A>C (p.Asn115His) | |
| MT | m.12679A>G | CA414814337 | MT-ND5 | c.343A>G (p.Asn115Asp) | |
| MT | m.12679A>T | CA414814339 | MT-ND5 | c.343A>T (p.Asn115Tyr) | |
| MT | m.12680A= | CA2499567687 | MT-ND5 | c.344A= (p.Asn115=) | |
| MT | m.12680A>C | CA414814342 | MT-ND5 | c.344A>C (p.Asn115Thr) | |
| MT | m.12680A>G | CA414814343 | MT-ND5 | c.344A>G (p.Asn115Ser) | dbSNP |
| MT | m.12680A>T | CA414814345 | MT-ND5 | c.344A>T (p.Asn115Ile) | |
| MT | m.12681T>A | CA414814348 | MT-ND5 | c.345T>A (p.Asn115Lys) | |
| MT | m.12681T>C | CA10581375 | MT-ND5 | c.345T>C (p.Asn115=) | ClinVar dbSNP |
| MT | m.12681T>G | CA414814351 | MT-ND5 | c.345T>G (p.Asn115Lys) | |
| MT | m.12681T= | CA2499567688 | MT-ND5 | c.345T= (p.Asn115=) | |
| MT | m.12682C>A | CA414814357 | MT-ND5 | c.346C>A (p.Gln116Lys) | |
| MT | m.12682C= | CA2573329908 | MT-ND5 | c.346C= (p.Gln116=) | |
| MT | m.12682C>G | CA414814355 | MT-ND5 | c.346C>G (p.Gln116Glu) | |
| MT | m.12682C>T | CA414814353 | MT-ND5 | c.346C>T (p.Gln116Ter) | |
| MT | m.12683A= | CA2573329910 | MT-ND5 | c.347A= (p.Gln116=) | |
| MT | m.12683A>C | CA414814359 | MT-ND5 | c.347A>C (p.Gln116Pro) | |
| MT | m.12683A>G | CA414814361 | MT-ND5 | c.347A>G (p.Gln116Arg) | |
| MT | m.12683A>T | CA414814363 | MT-ND5 | c.347A>T (p.Gln116Leu) | |
| MT | m.12684G>A | CA337099525 | MT-ND5 | c.348G>A (p.Gln116=) | dbSNP COSMIC |
| MT | m.12684G>C | CA414814366 | MT-ND5 | c.348G>C (p.Gln116His) | |
| MT | m.12684G= | CA2499567689 | MT-ND5 | c.348G= (p.Gln116=) | |
| MT | m.12684G>T | CA414814368 | MT-ND5 | c.348G>T (p.Gln116His) | |
| MT | m.12685T>A | CA414814370 | MT-ND5 | c.349T>A (p.Phe117Ile) | |
| MT | m.12685T>C | CA414814372 | MT-ND5 | c.349T>C (p.Phe117Leu) | |
| MT | m.12685T>G | CA414814374 | MT-ND5 | c.349T>G (p.Phe117Val) | |
| MT | m.12685T= | CA2573329913 | MT-ND5 | c.349T= (p.Phe117=) | |
| MT | m.12686T>A | CA414814376 | MT-ND5 | c.350T>A (p.Phe117Tyr) | |
| MT | m.12686T>C | CA414814378 | MT-ND5 | c.350T>C (p.Phe117Ser) | |
| MT | m.12686T>G | CA414814380 | MT-ND5 | c.350T>G (p.Phe117Cys) | |
| MT | m.12686T= | CA2573329917 | MT-ND5 | c.350T= (p.Phe117=) | |
| MT | m.12687C>A | CA414814382 | MT-ND5 | c.351C>A (p.Phe117Leu) | |
| MT | m.12687C= | CA2573329920 | MT-ND5 | c.351C= (p.Phe117=) | |
| MT | m.12687C>G | CA414814384 | MT-ND5 | c.351C>G (p.Phe117Leu) | |
| MT | m.12687C>T | CA913170460 | MT-ND5 | c.351C>T (p.Phe117=) | |
| MT | m.12688T>A | CA414814386 | MT-ND5 | c.352T>A (p.Phe118Ile) | |
| MT | m.12688T>C | CA414814388 | MT-ND5 | c.352T>C (p.Phe118Leu) | dbSNP |
| MT | m.12688T>G | CA414814390 | MT-ND5 | c.352T>G (p.Phe118Val) | |
| MT | m.12688T= | CA2499567690 | MT-ND5 | c.352T= (p.Phe118=) | |
| MT | m.12689T>A | CA414814392 | MT-ND5 | c.353T>A (p.Phe118Tyr) | |
| MT | m.12689T>C | CA414814394 | MT-ND5 | c.353T>C (p.Phe118Ser) | |
| MT | m.12689T>G | CA414814396 | MT-ND5 | c.353T>G (p.Phe118Cys) | |
| MT | m.12689T= | CA2573329922 | MT-ND5 | c.353T= (p.Phe118=) | |
| MT | m.12690C>A | CA414814398 | MT-ND5 | c.354C>A (p.Phe118Leu) | |
| MT | m.12690C= | CA2499567691 | MT-ND5 | c.354C= (p.Phe118=) | |
| MT | m.12690C>G | CA414814400 | MT-ND5 | c.354C>G (p.Phe118Leu) | |
| MT | m.12690C>T | CA913170461 | MT-ND5 | c.354C>T (p.Phe118=) | dbSNP |
| MT | m.12691A= | CA2573329923 | MT-ND5 | c.355A= (p.Lys119=) | |
| MT | m.12691A>C | CA414814402 | MT-ND5 | c.355A>C (p.Lys119Gln) | |
| MT | m.12691A>G | CA414814404 | MT-ND5 | c.355A>G (p.Lys119Glu) | |
| MT | m.12691A>T | CA414814406 | MT-ND5 | c.355A>T (p.Lys119Ter) | |
| MT | m.12692A= | CA2573329926 | MT-ND5 | c.356A= (p.Lys119=) | |
| MT | m.12692A>C | CA414814412 | MT-ND5 | c.356A>C (p.Lys119Thr) | |
| MT | m.12692A>G | CA414814411 | MT-ND5 | c.356A>G (p.Lys119Arg) | |
| MT | m.12692A>T | CA414814409 | MT-ND5 | c.356A>T (p.Lys119Ile) | |
| MT | m.12693A= | CA2499567692 | MT-ND5 | c.357A= (p.Lys119=) | |
| MT | m.12693A>C | CA414814415 | MT-ND5 | c.357A>C (p.Lys119Asn) | |
| MT | m.12693A>G | CA337099526 | MT-ND5 | c.357A>G (p.Lys119=) | dbSNP |
| MT | m.12693A>T | CA414814417 | MT-ND5 | c.357A>T (p.Lys119Asn) | |
| MT | m.12694T>A | CA414814419 | MT-ND5 | c.358T>A (p.Tyr120Asn) | |
| MT | m.12694T>C | CA414814421 | MT-ND5 | c.358T>C (p.Tyr120His) | |
| MT | m.12694T>G | CA414814423 | MT-ND5 | c.358T>G (p.Tyr120Asp) | |
| MT | m.12694T= | CA2573321000 | MT-ND5 | c.358T= (p.Tyr120=) | |
| MT | m.12695A= | CA2573321009 | MT-ND5 | c.359A= (p.Tyr120=) | |
| MT | m.12695A>C | CA414814426 | MT-ND5 | c.359A>C (p.Tyr120Ser) | |
| MT | m.12695A>G | CA414814427 | MT-ND5 | c.359A>G (p.Tyr120Cys) | |
| MT | m.12695A>T | CA414814429 | MT-ND5 | c.359A>T (p.Tyr120Phe) | |
| MT | m.12696T>A | CA414814431 | MT-ND5 | c.360T>A (p.Tyr120Ter) | |
| MT | m.12696T>C | CA913170462 | MT-ND5 | c.360T>C (p.Tyr120=) | dbSNP |
| MT | m.12696T>G | CA414814433 | MT-ND5 | c.360T>G (p.Tyr120Ter) | |
| MT | m.12696T= | CA2499567693 | MT-ND5 | c.360T= (p.Tyr120=) | |
| MT | m.12697C>A | CA414814435 | MT-ND5 | c.361C>A (p.Leu121Ile) | |
| MT | m.12697C= | CA2499567694 | MT-ND5 | c.361C= (p.Leu121=) | |
| MT | m.12697C>G | CA414814436 | MT-ND5 | c.361C>G (p.Leu121Val) | |
| MT | m.12697C>T | CA913170463 | MT-ND5 | c.361C>T (p.Leu121=) | dbSNP |
| MT | m.12698T>A | CA414814441 | MT-ND5 | c.362T>A (p.Leu121Gln) | |
| MT | m.12698T>C | CA414814442 | MT-ND5 | c.362T>C (p.Leu121Pro) | |
| MT | m.12698T>G | CA414814439 | MT-ND5 | c.362T>G (p.Leu121Arg) | |
| MT | m.12698T= | CA2573321028 | MT-ND5 | c.362T= (p.Leu121=) | |
| MT | m.12699A= | CA2573321031 | MT-ND5 | c.363A= (p.Leu121=) | |
| MT | m.12699A>C | CA913170464 | MT-ND5 | c.363A>C (p.Leu121=) | |
| MT | m.12699A>G | CA913170465 | MT-ND5 | c.363A>G (p.Leu121=) | dbSNP |
| MT | m.12699A>T | CA913170466 | MT-ND5 | c.363A>T (p.Leu121=) | |
| MT | m.12700C>A | CA414814445 | MT-ND5 | c.364C>A (p.Leu122Ile) | |
| MT | m.12700C= | CA2573321036 | MT-ND5 | c.364C= (p.Leu122=) | |
| MT | m.12700C>G | CA414814449 | MT-ND5 | c.364C>G (p.Leu122Val) | |
| MT | m.12700C>T | CA414814447 | MT-ND5 | c.364C>T (p.Leu122Phe) | |
| MT | m.12701T>A | CA414814451 | MT-ND5 | c.365T>A (p.Leu122His) | |
| MT | m.12701T>C | CA414814455 | MT-ND5 | c.365T>C (p.Leu122Pro) | |
| MT | m.12701T>G | CA414814453 | MT-ND5 | c.365T>G (p.Leu122Arg) | |
| MT | m.12701T= | CA2573321042 | MT-ND5 | c.365T= (p.Leu122=) | |
| MT | m.12702C>A | CA913170467 | MT-ND5 | c.366C>A (p.Leu122=) | |
| MT | m.12702C= | CA2573321050 | MT-ND5 | c.366C= (p.Leu122=) | |
| MT | m.12702C>G | CA913170468 | MT-ND5 | c.366C>G (p.Leu122=) | |
| MT | m.12702C>T | CA913170469 | MT-ND5 | c.366C>T (p.Leu122=) | |
| MT | m.12703A= | CA2573321057 | MT-ND5 | c.367A= (p.Ile123=) | |
| MT | m.12703A>C | CA414814457 | MT-ND5 | c.367A>C (p.Ile123Leu) | |
| MT | m.12703A>G | CA414814459 | MT-ND5 | c.367A>G (p.Ile123Val) | |
| MT | m.12703A>T | CA414814460 | MT-ND5 | c.367A>T (p.Ile123Phe) | |
| MT | m.12704T>A | CA414814463 | MT-ND5 | c.368T>A (p.Ile123Asn) | |
| MT | m.12704T>C | CA414814465 | MT-ND5 | c.368T>C (p.Ile123Thr) | |
| MT | m.12704T>G | CA414814467 | MT-ND5 | c.368T>G (p.Ile123Ser) | |
| MT | m.12704T= | CA2573321062 | MT-ND5 | c.368T= (p.Ile123=) | |
| MT | m.12705C>A | CA913170470 | MT-ND5 | c.369C>A (p.Ile123=) | |
| MT | m.12705C= | CA2499567695 | MT-ND5 | c.369C= (p.Ile123=) | |
| MT | m.12705C>G | CA414814469 | MT-ND5 | c.369C>G (p.Ile123Met) | |
| MT | m.12705C>T | CA337099527 | MT-ND5 | c.369C>T (p.Ile123=) | dbSNP COSMIC |
| MT | m.12706T>A | CA414814475 | MT-ND5 | c.370T>A (p.Phe124Ile) | |
| MT | m.12706T>C | CA120628 | MT-ND5 | c.370T>C (p.Phe124Leu) | ClinVar dbSNP |
| MT | m.12706T>G | CA414814472 | MT-ND5 | c.370T>G (p.Phe124Val) | |
| MT | m.12706T= | CA2499567696 | MT-ND5 | c.370T= (p.Phe124=) | |
| MT | m.12707T>A | CA414814479 | MT-ND5 | c.371T>A (p.Phe124Tyr) | |
| MT | m.12707T>C | CA414814480 | MT-ND5 | c.371T>C (p.Phe124Ser) | dbSNP |
| MT | m.12707T>G | CA414814482 | MT-ND5 | c.371T>G (p.Phe124Cys) | |
| MT | m.12707T= | CA2499567697 | MT-ND5 | c.371T= (p.Phe124=) | |
| MT | m.12708C>A | CA414814485 | MT-ND5 | c.372C>A (p.Phe124Leu) | |
| MT | m.12708C= | CA2499567698 | MT-ND5 | c.372C= (p.Phe124=) | |
| MT | m.12708C>G | CA414814486 | MT-ND5 | c.372C>G (p.Phe124Leu) | |
| MT | m.12708C>T | CA913170471 | MT-ND5 | c.372C>T (p.Phe124=) | dbSNP |
| MT | m.12709C>A | CA414814489 | MT-ND5 | c.373C>A (p.Leu125Ile) | |
| MT | m.12709C= | CA2573321077 | MT-ND5 | c.373C= (p.Leu125=) | |
| MT | m.12709C>G | CA414814490 | MT-ND5 | c.373C>G (p.Leu125Val) | |
| MT | m.12709C>T | CA913170472 | MT-ND5 | c.373C>T (p.Leu125=) |