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.11698C>A | CA913168257 | MT-ND4 | c.939C>A (p.Val313=) | |
| MT | m.11698C= | CA2499567248 | MT-ND4 | c.939C= (p.Val313=) | |
| MT | m.11698C>G | CA913168255 | MT-ND4 | c.939C>G (p.Val313=) | dbSNP |
| MT | m.11698C>T | CA913168253 | MT-ND4 | c.939C>T (p.Val313=) | |
| MT | m.11699A= | CA2573328234 | MT-ND4 | c.940A= (p.Ile314=) | |
| MT | m.11699A>C | CA414810763 | MT-ND4 | c.940A>C (p.Ile314Leu) | |
| MT | m.11699A>G | CA414810764 | MT-ND4 | c.940A>G (p.Ile314Val) | |
| MT | m.11699A>T | CA414810765 | MT-ND4 | c.940A>T (p.Ile314Phe) | |
| MT | m.11700T>A | CA414810766 | MT-ND4 | c.941T>A (p.Ile314Asn) | |
| MT | m.11700T>C | CA414810768 | MT-ND4 | c.941T>C (p.Ile314Thr) | |
| MT | m.11700T>G | CA414810767 | MT-ND4 | c.941T>G (p.Ile314Ser) | |
| MT | m.11700T= | CA2573328237 | MT-ND4 | c.941T= (p.Ile314=) | |
| MT | m.11701T>A | CA913168277 | MT-ND4 | c.942T>A (p.Ile314=) | |
| MT | m.11701T>C | CA913168278 | MT-ND4 | c.942T>C (p.Ile314=) | dbSNP |
| MT | m.11701T>G | CA414810769 | MT-ND4 | c.942T>G (p.Ile314Met) | |
| MT | m.11701T= | CA2499567249 | MT-ND4 | c.942T= (p.Ile314=) | |
| MT | m.11702C>A | CA414810770 | MT-ND4 | c.943C>A (p.Leu315Ile) | |
| MT | m.11702C= | CA2573328240 | MT-ND4 | c.943C= (p.Leu315=) | |
| MT | m.11702C>G | CA414810771 | MT-ND4 | c.943C>G (p.Leu315Val) | |
| MT | m.11702C>T | CA414810772 | MT-ND4 | c.943C>T (p.Leu315Phe) | |
| MT | m.11703T>A | CA414810773 | MT-ND4 | c.944T>A (p.Leu315His) | |
| MT | m.11703T>C | CA414810774 | MT-ND4 | c.944T>C (p.Leu315Pro) | |
| MT | m.11703T>G | CA414810775 | MT-ND4 | c.944T>G (p.Leu315Arg) | |
| MT | m.11703T= | CA2573328242 | MT-ND4 | c.944T= (p.Leu315=) | |
| MT | m.11704C>A | CA913168289 | MT-ND4 | c.945C>A (p.Leu315=) | |
| MT | m.11704C= | CA2573328243 | MT-ND4 | c.945C= (p.Leu315=) | |
| MT | m.11704C>G | CA913168292 | MT-ND4 | c.945C>G (p.Leu315=) | |
| MT | m.11704C>T | CA913168290 | MT-ND4 | c.945C>T (p.Leu315=) | |
| MT | m.11705A= | CA2573328244 | MT-ND4 | c.946A= (p.Ile316=) | |
| MT | m.11705A>C | CA414810776 | MT-ND4 | c.946A>C (p.Ile316Leu) | |
| MT | m.11705A>G | CA414810777 | MT-ND4 | c.946A>G (p.Ile316Val) | |
| MT | m.11705A>T | CA414810778 | MT-ND4 | c.946A>T (p.Ile316Leu) | |
| MT | m.11706T>A | CA414810781 | MT-ND4 | c.947T>A (p.Ile316Lys) | |
| MT | m.11706T>C | CA414810780 | MT-ND4 | c.947T>C (p.Ile316Thr) | |
| MT | m.11706T>G | CA414810779 | MT-ND4 | c.947T>G (p.Ile316Arg) | |
| MT | m.11706T= | CA2573328246 | MT-ND4 | c.947T= (p.Ile316=) | |
| MT | m.11707A= | CA2573328248 | MT-ND4 | c.948A= (p.Ile316=) | |
| MT | m.11707A>C | CA913168302 | MT-ND4 | c.948A>C (p.Ile316=) | |
| MT | m.11707A>G | CA414810782 | MT-ND4 | c.948A>G (p.Ile316Met) | |
| MT | m.11707A>T | CA913168311 | MT-ND4 | c.948A>T (p.Ile316=) | |
| MT | m.11708A= | CA2499567250 | MT-ND4 | c.949A= (p.Ile317=) | |
| MT | m.11708A>C | CA337099273 | MT-ND4 | c.949A>C (p.Ile317Leu) | |
| MT | m.11708A>G | CA414810783 | MT-ND4 | c.949A>G (p.Ile317Val) | ClinVar dbSNP |
| MT | m.11708A>T | CA337099275 | MT-ND4 | c.949A>T (p.Ile317Phe) | |
| MT | m.11709T>A | CA414810784 | MT-ND4 | c.950T>A (p.Ile317Asn) | |
| MT | m.11709T>C | CA414810785 | MT-ND4 | c.950T>C (p.Ile317Thr) | |
| MT | m.11709T>G | CA414810786 | MT-ND4 | c.950T>G (p.Ile317Ser) | |
| MT | m.11709T= | CA2513683291 | MT-ND4 | c.950T= (p.Ile317=) | |
| MT | m.11710C>A | CA913168333 | MT-ND4 | c.951C>A (p.Ile317=) | |
| MT | m.11710C= | CA2499567251 | MT-ND4 | c.951C= (p.Ile317=) | |
| MT | m.11710C>G | CA414810787 | MT-ND4 | c.951C>G (p.Ile317Met) | |
| MT | m.11710C>T | CA913168334 | MT-ND4 | c.951C>T (p.Ile317=) | dbSNP |
| MT | m.11711G>A | CA414810788 | MT-ND4 | c.952G>A (p.Ala318Thr) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.11711G>C | CA414810789 | MT-ND4 | c.952G>C (p.Ala318Pro) | |
| MT | m.11711G= | CA2499567252 | MT-ND4 | c.952G= (p.Ala318=) | |
| MT | m.11711G>T | CA414810790 | MT-ND4 | c.952G>T (p.Ala318Ser) | |
| MT | m.11712C>A | CA414810791 | MT-ND4 | c.953C>A (p.Ala318Asp) | |
| MT | m.11712C= | CA2573328256 | MT-ND4 | c.953C= (p.Ala318=) | |
| MT | m.11712C>G | CA414810792 | MT-ND4 | c.953C>G (p.Ala318Gly) | |
| MT | m.11712C>T | CA414810793 | MT-ND4 | c.953C>T (p.Ala318Val) | |
| MT | m.11713C>A | CA913168343 | MT-ND4 | c.954C>A (p.Ala318=) | |
| MT | m.11713C= | CA2573328258 | MT-ND4 | c.954C= (p.Ala318=) | |
| MT | m.11713C>G | CA913168341 | MT-ND4 | c.954C>G (p.Ala318=) | |
| MT | m.11713C>T | CA913168340 | MT-ND4 | c.954C>T (p.Ala318=) | |
| MT | m.11714C>A | CA414810794 | MT-ND4 | c.955C>A (p.His319Asn) | |
| MT | m.11714C= | CA2573328260 | MT-ND4 | c.955C= (p.His319=) | |
| MT | m.11714C>G | CA414810795 | MT-ND4 | c.955C>G (p.His319Asp) | |
| MT | m.11714C>T | CA414810796 | MT-ND4 | c.955C>T (p.His319Tyr) | |
| MT | m.11715A= | CA2573328263 | MT-ND4 | c.956A= (p.His319=) | |
| MT | m.11715A>C | CA414810797 | MT-ND4 | c.956A>C (p.His319Pro) | |
| MT | m.11715A>G | CA414810799 | MT-ND4 | c.956A>G (p.His319Arg) | |
| MT | m.11715A>T | CA414810798 | MT-ND4 | c.956A>T (p.His319Leu) | |
| MT | m.11716C>A | CA414810800 | MT-ND4 | c.957C>A (p.His319Gln) | |
| MT | m.11716C= | CA2499567253 | MT-ND4 | c.957C= (p.His319=) | |
| MT | m.11716C>G | CA414810801 | MT-ND4 | c.957C>G (p.His319Gln) | |
| MT | m.11716C>T | CA913168350 | MT-ND4 | c.957C>T (p.His319=) | dbSNP |
| MT | m.11717G>A | CA414810802 | MT-ND4 | c.958G>A (p.Gly320Arg) | |
| MT | m.11717G>C | CA414810803 | MT-ND4 | c.958G>C (p.Gly320Arg) | |
| MT | m.11717G= | CA2573328267 | MT-ND4 | c.958G= (p.Gly320=) | |
| MT | m.11717G>T | CA414810804 | MT-ND4 | c.958G>T (p.Gly320Trp) | |
| MT | m.11718G>A | CA414810805 | MT-ND4 | c.959G>A (p.Gly320Glu) | |
| MT | m.11718G>C | CA414810806 | MT-ND4 | c.959G>C (p.Gly320Ala) | |
| MT | m.11718G= | CA2513257592 | MT-ND4 | c.959G= (p.Gly320=) | |
| MT | m.11718G>T | CA414810807 | MT-ND4 | c.959G>T (p.Gly320Val) | |
| MT | m.11719G>A | CA337099277 | MT-ND4 | c.960G>A (p.Gly320=) | ClinVar dbSNP |
| MT | m.11719G>C | CA913168356 | MT-ND4 | c.960G>C (p.Gly320=) | |
| MT | m.11719G= | CA2499567254 | MT-ND4 | c.960G= (p.Gly320=) | |
| MT | m.11719G>T | CA913168355 | MT-ND4 | c.960G>T (p.Gly320=) | |
| MT | m.11719_11767del | CA2740098351 | MT-ND4 | c.960_1008del (p.Ser323ValfsTer4) | |
| MT | m.11720C>A | CA913168359 | MT-ND4 | c.961C>A (p.Leu321Ile) | |
| MT | m.11720C= | CA2573328271 | MT-ND4 | c.961C= (p.Leu321=) | |
| MT | m.11720C>G | CA913168358 | MT-ND4 | c.961C>G (p.Leu321Val) | |
| MT | m.11720C>T | CA913168357 | MT-ND4 | c.961C>T (p.Leu321Phe) | |
| MT | m.11721T>A | CA913168362 | MT-ND4 | c.962T>A (p.Leu321His) | |
| MT | m.11721T>C | CA913168361 | MT-ND4 | c.962T>C (p.Leu321Pro) | |
| MT | m.11721T>G | CA913168360 | MT-ND4 | c.962T>G (p.Leu321Arg) | |
| MT | m.11721T= | CA2573328273 | MT-ND4 | c.962T= (p.Leu321=) | |
| MT | m.11722T>A | CA913168366 | MT-ND4 | c.963T>A (p.Leu321=) | |
| MT | m.11722T>C | CA337099279 | MT-ND4 | c.963T>C (p.Leu321=) | dbSNP |
| MT | m.11722T>G | CA913168365 | MT-ND4 | c.963T>G (p.Leu321=) | |
| MT | m.11722T= | CA2499567255 | MT-ND4 | c.963T= (p.Leu321=) | |
| MT | m.11723A= | CA2573328275 | MT-ND4 | c.964A= (p.Thr322=) | |
| MT | m.11723A>C | CA414810808 | MT-ND4 | c.964A>C (p.Thr322Pro) | |
| MT | m.11723A>G | CA414810810 | MT-ND4 | c.964A>G (p.Thr322Ala) | |
| MT | m.11723A>T | CA414810809 | MT-ND4 | c.964A>T (p.Thr322Ser) | |
| MT | m.11724C>A | CA414810811 | MT-ND4 | c.965C>A (p.Thr322Lys) | |
| MT | m.11724C= | CA2573328277 | MT-ND4 | c.965C= (p.Thr322=) | |
| MT | m.11724C>G | CA414810812 | MT-ND4 | c.965C>G (p.Thr322Arg) | |
| MT | m.11724C>T | CA414810813 | MT-ND4 | c.965C>T (p.Thr322Ile) | |
| MT | m.11725A= | CA2499567256 | MT-ND4 | c.966A= (p.Thr322=) | |
| MT | m.11725A>C | CA913168382 | MT-ND4 | c.966A>C (p.Thr322=) | |
| MT | m.11725A>G | CA913168376 | MT-ND4 | c.966A>G (p.Thr322=) | dbSNP |
| MT | m.11725A>T | CA913168375 | MT-ND4 | c.966A>T (p.Thr322=) | |
| MT | m.11726T>A | CA414810814 | MT-ND4 | c.967T>A (p.Ser323Thr) | |
| MT | m.11726T>C | CA414810815 | MT-ND4 | c.967T>C (p.Ser323Pro) | |
| MT | m.11726T>G | CA414810816 | MT-ND4 | c.967T>G (p.Ser323Ala) | |
| MT | m.11726T= | CA2573328279 | MT-ND4 | c.967T= (p.Ser323=) | |
| MT | m.11727C>A | CA414810817 | MT-ND4 | c.968C>A (p.Ser323Tyr) | |
| MT | m.11727C= | CA2573328280 | MT-ND4 | c.968C= (p.Ser323=) | |
| MT | m.11727C>G | CA414810818 | MT-ND4 | c.968C>G (p.Ser323Cys) | |
| MT | m.11727C>T | CA414810819 | MT-ND4 | c.968C>T (p.Ser323Phe) | |
| MT | m.11728C>A | CA913168390 | MT-ND4 | c.969C>A (p.Ser323=) | |
| MT | m.11728C= | CA2499567257 | MT-ND4 | c.969C= (p.Ser323=) | |
| MT | m.11728C>G | CA913168388 | MT-ND4 | c.969C>G (p.Ser323=) | |
| MT | m.11728C>T | CA913168391 | MT-ND4 | c.969C>T (p.Ser323=) | dbSNP |
| MT | m.11729T>A | CA414810820 | MT-ND4 | c.970T>A (p.Ser324Thr) | |
| MT | m.11729T>C | CA414810821 | MT-ND4 | c.970T>C (p.Ser324Pro) | dbSNP |
| MT | m.11729T>G | CA414810822 | MT-ND4 | c.970T>G (p.Ser324Ala) | |
| MT | m.11729T= | CA2499567258 | MT-ND4 | c.970T= (p.Ser324=) | |
| MT | m.11730C>A | CA414810823 | MT-ND4 | c.971C>A (p.Ser324Ter) | |
| MT | m.11730C= | CA2573328282 | MT-ND4 | c.971C= (p.Ser324=) | |
| MT | m.11730C>G | CA414810825 | MT-ND4 | c.971C>G (p.Ser324Ter) | |
| MT | m.11730C>T | CA414810824 | MT-ND4 | c.971C>T (p.Ser324Leu) | |
| MT | m.11731A= | CA2573328283 | MT-ND4 | c.972A= (p.Ser324=) | |
| MT | m.11731A>C | CA913168397 | MT-ND4 | c.972A>C (p.Ser324=) | |
| MT | m.11731A>G | CA913168398 | MT-ND4 | c.972A>G (p.Ser324=) | dbSNP |
| MT | m.11731A>T | CA913168399 | MT-ND4 | c.972A>T (p.Ser324=) | |
| MT | m.11732T>A | CA414810827 | MT-ND4 | c.973T>A (p.Leu325Ile) | |
| MT | m.11732T>C | CA337099281 | MT-ND4 | c.973T>C (p.Leu325=) | dbSNP |
| MT | m.11732T>G | CA414810829 | MT-ND4 | c.973T>G (p.Leu325Val) | |
| MT | m.11732T= | CA2499567259 | MT-ND4 | c.973T= (p.Leu325=) | |
| MT | m.11733T>A | CA414810832 | MT-ND4 | c.974T>A (p.Leu325Ter) | |
| MT | m.11733T>C | CA414810833 | MT-ND4 | c.974T>C (p.Leu325Ser) | ClinVar dbSNP |
| MT | m.11733T>G | CA414810835 | MT-ND4 | c.974T>G (p.Leu325Ter) | |
| MT | m.11733T= | CA2499567260 | MT-ND4 | c.974T= (p.Leu325=) | |
| MT | m.11734A= | CA2499567261 | MT-ND4 | c.975A= (p.Leu325=) | |
| MT | m.11734A>C | CA414810838 | MT-ND4 | c.975A>C (p.Leu325Phe) | |
| MT | m.11734A>G | CA337099283 | MT-ND4 | c.975A>G (p.Leu325=) | dbSNP |
| MT | m.11734A>T | CA414810840 | MT-ND4 | c.975A>T (p.Leu325Phe) | |
| MT | m.11735C>A | CA414810844 | MT-ND4 | c.976C>A (p.Leu326Ile) | |
| MT | m.11735C= | CA2499567262 | MT-ND4 | c.976C= (p.Leu326=) | |
| MT | m.11735C>G | CA414810842 | MT-ND4 | c.976C>G (p.Leu326Val) | |
| MT | m.11735C>T | CA913168420 | MT-ND4 | c.976C>T (p.Leu326=) | dbSNP |
| MT | m.11736T>A | CA414810847 | MT-ND4 | c.977T>A (p.Leu326Gln) | |
| MT | m.11736T>C | CA414810848 | MT-ND4 | c.977T>C (p.Leu326Pro) | |
| MT | m.11736T>G | CA414810849 | MT-ND4 | c.977T>G (p.Leu326Arg) | |
| MT | m.11736T= | CA2573328290 | MT-ND4 | c.977T= (p.Leu326=) | |
| MT | m.11737A= | CA2573328291 | MT-ND4 | c.978A= (p.Leu326=) | |
| MT | m.11737A>C | CA913168426 | MT-ND4 | c.978A>C (p.Leu326=) | |
| MT | m.11737A>G | CA913168425 | MT-ND4 | c.978A>G (p.Leu326=) | dbSNP |
| MT | m.11737A>T | CA913168424 | MT-ND4 | c.978A>T (p.Leu326=) | |
| MT | m.11738T>A | CA414810852 | MT-ND4 | c.979T>A (p.Phe327Ile) | |
| MT | m.11738T>C | CA414810854 | MT-ND4 | c.979T>C (p.Phe327Leu) | dbSNP |
| MT | m.11738T>G | CA414810855 | MT-ND4 | c.979T>G (p.Phe327Val) | |
| MT | m.11738T= | CA2499567263 | MT-ND4 | c.979T= (p.Phe327=) | |
| MT | m.11739T>A | CA414810861 | MT-ND4 | c.980T>A (p.Phe327Tyr) | |
| MT | m.11739T>C | CA414810858 | MT-ND4 | c.980T>C (p.Phe327Ser) | |
| MT | m.11739T>G | CA414810859 | MT-ND4 | c.980T>G (p.Phe327Cys) | |
| MT | m.11739T= | CA2573328293 | MT-ND4 | c.980T= (p.Phe327=) | |
| MT | m.11740C>A | CA414810864 | MT-ND4 | c.981C>A (p.Phe327Leu) | |
| MT | m.11740C= | CA2499567264 | MT-ND4 | c.981C= (p.Phe327=) | |
| MT | m.11740C>G | CA414810865 | MT-ND4 | c.981C>G (p.Phe327Leu) | |
| MT | m.11740C>T | CA913168431 | MT-ND4 | c.981C>T (p.Phe327=) | dbSNP |
| MT | m.11741T>A | CA414810868 | MT-ND4 | c.982T>A (p.Cys328Ser) | |
| MT | m.11741T>C | CA414810869 | MT-ND4 | c.982T>C (p.Cys328Arg) | |
| MT | m.11741T>G | CA414810871 | MT-ND4 | c.982T>G (p.Cys328Gly) | |
| MT | m.11741T= | CA2573328295 | MT-ND4 | c.982T= (p.Cys328=) | |
| MT | m.11742G>A | CA414810873 | MT-ND4 | c.983G>A (p.Cys328Tyr) | |
| MT | m.11742G>C | CA414810877 | MT-ND4 | c.983G>C (p.Cys328Ser) | |
| MT | m.11742G= | CA2573328298 | MT-ND4 | c.983G= (p.Cys328=) | |
| MT | m.11742G>T | CA414810875 | MT-ND4 | c.983G>T (p.Cys328Phe) | |
| MT | m.11743C>A | CA414810879 | MT-ND4 | c.984C>A (p.Cys328Ter) | |
| MT | m.11743C= | CA2573328299 | MT-ND4 | c.984C= (p.Cys328=) | |
| MT | m.11743C>G | CA414810880 | MT-ND4 | c.984C>G (p.Cys328Trp) | |
| MT | m.11743C>T | CA913168440 | MT-ND4 | c.984C>T (p.Cys328=) | |
| MT | m.11744C>A | CA414810883 | MT-ND4 | c.985C>A (p.Leu329Ile) | |
| MT | m.11744C= | CA2573328300 | MT-ND4 | c.985C= (p.Leu329=) | |
| MT | m.11744C>G | CA414810885 | MT-ND4 | c.985C>G (p.Leu329Val) | |
| MT | m.11744C>T | CA913168444 | MT-ND4 | c.985C>T (p.Leu329=) | |
| MT | m.11745T>A | CA414810886 | MT-ND4 | c.986T>A (p.Leu329Gln) | |
| MT | m.11745T>C | CA414810888 | MT-ND4 | c.986T>C (p.Leu329Pro) | |
| MT | m.11745T>G | CA414810890 | MT-ND4 | c.986T>G (p.Leu329Arg) | |
| MT | m.11745T= | CA2573328303 | MT-ND4 | c.986T= (p.Leu329=) | |
| MT | m.11746A= | CA2499567265 | MT-ND4 | c.987A= (p.Leu329=) | |
| MT | m.11746A>C | CA913168452 | MT-ND4 | c.987A>C (p.Leu329=) | |
| MT | m.11746A>G | CA337099285 | MT-ND4 | c.987A>G (p.Leu329=) | dbSNP |
| MT | m.11746A>T | CA913168451 | MT-ND4 | c.987A>T (p.Leu329=) | |
| MT | m.11747G>A | CA414810894 | MT-ND4 | c.988G>A (p.Ala330Thr) | |
| MT | m.11747G>C | CA414810896 | MT-ND4 | c.988G>C (p.Ala330Pro) | |
| MT | m.11747G= | CA2573328305 | MT-ND4 | c.988G= (p.Ala330=) | |
| MT | m.11747G>T | CA414810897 | MT-ND4 | c.988G>T (p.Ala330Ser) | |
| MT | m.11748C>A | CA414810900 | MT-ND4 | c.989C>A (p.Ala330Glu) | |
| MT | m.11748C= | CA2573328307 | MT-ND4 | c.989C= (p.Ala330=) | |
| MT | m.11748C>G | CA414810903 | MT-ND4 | c.989C>G (p.Ala330Gly) | |
| MT | m.11748C>T | CA414810901 | MT-ND4 | c.989C>T (p.Ala330Val) | |
| MT | m.11749A= | CA2499567266 | MT-ND4 | c.990A= (p.Ala330=) | |
| MT | m.11749A>C | CA913168483 | MT-ND4 | c.990A>C (p.Ala330=) | |
| MT | m.11749A>G | CA913168484 | MT-ND4 | c.990A>G (p.Ala330=) | dbSNP |
| MT | m.11749A>T | CA913168485 | MT-ND4 | c.990A>T (p.Ala330=) | |
| MT | m.11750A= | CA2573328309 | MT-ND4 | c.991A= (p.Asn331=) | |
| MT | m.11750A>C | CA414810905 | MT-ND4 | c.991A>C (p.Asn331His) | |
| MT | m.11750A>G | CA414810907 | MT-ND4 | c.991A>G (p.Asn331Asp) | |
| MT | m.11750A>T | CA414810908 | MT-ND4 | c.991A>T (p.Asn331Tyr) | |
| MT | m.11751A= | CA2573328312 | MT-ND4 | c.992A= (p.Asn331=) | |
| MT | m.11751A>C | CA414810911 | MT-ND4 | c.992A>C (p.Asn331Thr) | |
| MT | m.11751A>G | CA414810913 | MT-ND4 | c.992A>G (p.Asn331Ser) | |
| MT | m.11751A>T | CA414810914 | MT-ND4 | c.992A>T (p.Asn331Ile) | |
| MT | m.11752C>A | CA414810917 | MT-ND4 | c.993C>A (p.Asn331Lys) | |
| MT | m.11752C= | CA2573328314 | MT-ND4 | c.993C= (p.Asn331=) | |
| MT | m.11752C>G | CA414810919 | MT-ND4 | c.993C>G (p.Asn331Lys) | |
| MT | m.11752C>T | CA913168490 | MT-ND4 | c.993C>T (p.Asn331=) | |
| MT | m.11753T>A | CA414810921 | MT-ND4 | c.994T>A (p.Ser332Thr) | |
| MT | m.11753T>C | CA414810923 | MT-ND4 | c.994T>C (p.Ser332Pro) | |
| MT | m.11753T>G | CA414810925 | MT-ND4 | c.994T>G (p.Ser332Ala) | |
| MT | m.11753T= | CA2573328317 | MT-ND4 | c.994T= (p.Ser332=) | |
| MT | m.11754C>A | CA414810930 | MT-ND4 | c.995C>A (p.Ser332Ter) | |
| MT | m.11754C= | CA2573328320 | MT-ND4 | c.995C= (p.Ser332=) | |
| MT | m.11754C>G | CA414810929 | MT-ND4 | c.995C>G (p.Ser332Ter) | |
| MT | m.11754C>T | CA414810928 | MT-ND4 | c.995C>T (p.Ser332Leu) | |
| MT | m.11755A= | CA2499567267 | MT-ND4 | c.996A= (p.Ser332=) | |
| MT | m.11755A>C | CA913168498 | MT-ND4 | c.996A>C (p.Ser332=) | |
| MT | m.11755A>G | CA913168499 | MT-ND4 | c.996A>G (p.Ser332=) | dbSNP |
| MT | m.11755A>T | CA913168500 | MT-ND4 | c.996A>T (p.Ser332=) | |
| MT | m.11756A= | CA2573328322 | MT-ND4 | c.997A= (p.Asn333=) | |
| MT | m.11756A>C | CA414810933 | MT-ND4 | c.997A>C (p.Asn333His) | |
| MT | m.11756A>G | CA414810935 | MT-ND4 | c.997A>G (p.Asn333Asp) | |
| MT | m.11756A>T | CA414810936 | MT-ND4 | c.997A>T (p.Asn333Tyr) | |
| MT | m.11757A= | CA2573328324 | MT-ND4 | c.998A= (p.Asn333=) | |
| MT | m.11757A>C | CA414810939 | MT-ND4 | c.998A>C (p.Asn333Thr) | |
| MT | m.11757A>G | CA414810940 | MT-ND4 | c.998A>G (p.Asn333Ser) | |
| MT | m.11757A>T | CA414810942 | MT-ND4 | c.998A>T (p.Asn333Ile) | |
| MT | m.11758C>A | CA414810944 | MT-ND4 | c.999C>A (p.Asn333Lys) | |
| MT | m.11758C= | CA2499567268 | MT-ND4 | c.999C= (p.Asn333=) | |
| MT | m.11758C>G | CA337099287 | MT-ND4 | c.999C>G (p.Asn333Lys) | |
| MT | m.11758C>T | CA337099290 | MT-ND4 | c.999C>T (p.Asn333=) | dbSNP |
| MT | m.11759T>A | CA414810948 | MT-ND4 | c.1000T>A (p.Tyr334Asn) | |
| MT | m.11759T>C | CA414810950 | MT-ND4 | c.1000T>C (p.Tyr334His) | |
| MT | m.11759T>G | CA414810951 | MT-ND4 | c.1000T>G (p.Tyr334Asp) | |
| MT | m.11759T= | CA2573328327 | MT-ND4 | c.1000T= (p.Tyr334=) | |
| MT | m.11760A= | CA2573328330 | MT-ND4 | c.1001A= (p.Tyr334=) | |
| MT | m.11760A>C | CA414810956 | MT-ND4 | c.1001A>C (p.Tyr334Ser) | |
| MT | m.11760A>G | CA414810957 | MT-ND4 | c.1001A>G (p.Tyr334Cys) | |
| MT | m.11760A>T | CA414810954 | MT-ND4 | c.1001A>T (p.Tyr334Phe) | |
| MT | m.11761C>A | CA414810961 | MT-ND4 | c.1002C>A (p.Tyr334Ter) | |
| MT | m.11761C= | CA2499567269 | MT-ND4 | c.1002C= (p.Tyr334=) | |
| MT | m.11761C>G | CA414810962 | MT-ND4 | c.1002C>G (p.Tyr334Ter) | |
| MT | m.11761C>T | CA913168522 | MT-ND4 | c.1002C>T (p.Tyr334=) | dbSNP |
| MT | m.11762G>A | CA414810965 | MT-ND4 | c.1003G>A (p.Glu335Lys) | |
| MT | m.11762G>C | CA414810967 | MT-ND4 | c.1003G>C (p.Glu335Gln) | |
| MT | m.11762G= | CA2573328335 | MT-ND4 | c.1003G= (p.Glu335=) | |
| MT | m.11762G>T | CA414810968 | MT-ND4 | c.1003G>T (p.Glu335Ter) | |
| MT | m.11763A= | CA2573328336 | MT-ND4 | c.1004A= (p.Glu335=) | |
| MT | m.11763A>C | CA414810971 | MT-ND4 | c.1004A>C (p.Glu335Ala) | |
| MT | m.11763A>G | CA414810972 | MT-ND4 | c.1004A>G (p.Glu335Gly) | |
| MT | m.11763A>T | CA414810974 | MT-ND4 | c.1004A>T (p.Glu335Val) | |
| MT | m.11764A= | CA2499567270 | MT-ND4 | c.1005A= (p.Glu335=) | |
| MT | m.11764A>C | CA414810976 | MT-ND4 | c.1005A>C (p.Glu335Asp) | |
| MT | m.11764A>G | CA913168531 | MT-ND4 | c.1005A>G (p.Glu335=) | dbSNP |
| MT | m.11764A>T | CA414810978 | MT-ND4 | c.1005A>T (p.Glu335Asp) | |
| MT | m.11765C>A | CA414810980 | MT-ND4 | c.1006C>A (p.Arg336Ser) | |
| MT | m.11765C= | CA2573328339 | MT-ND4 | c.1006C= (p.Arg336=) | |
| MT | m.11765C>G | CA414810982 | MT-ND4 | c.1006C>G (p.Arg336Gly) | |
| MT | m.11765C>T | CA414810983 | MT-ND4 | c.1006C>T (p.Arg336Cys) | |
| MT | m.11766G>A | CA414810989 | MT-ND4 | c.1007G>A (p.Arg336His) | |
| MT | m.11766G>C | CA414810988 | MT-ND4 | c.1007G>C (p.Arg336Pro) | |
| MT | m.11766G= | CA2573328341 | MT-ND4 | c.1007G= (p.Arg336=) | |
| MT | m.11766G>T | CA414810986 | MT-ND4 | c.1007G>T (p.Arg336Leu) | |
| MT | m.11767C>A | CA913168546 | MT-ND4 | c.1008C>A (p.Arg336=) | |
| MT | m.11767C= | CA2573328343 | MT-ND4 | c.1008C= (p.Arg336=) | |
| MT | m.11767C>G | CA913168543 | MT-ND4 | c.1008C>G (p.Arg336=) | |
| MT | m.11767C>T | CA913168545 | MT-ND4 | c.1008C>T (p.Arg336=) | dbSNP |
| MT | m.11768A= | CA2573328344 | MT-ND4 | c.1009A= (p.Thr337=) | |
| MT | m.11768A>C | CA414810992 | MT-ND4 | c.1009A>C (p.Thr337Pro) | |
| MT | m.11768A>G | CA414810994 | MT-ND4 | c.1009A>G (p.Thr337Ala) | |
| MT | m.11768A>T | CA414810995 | MT-ND4 | c.1009A>T (p.Thr337Ser) | |
| MT | m.11769C>A | CA414810998 | MT-ND4 | c.1010C>A (p.Thr337Asn) | |
| MT | m.11769C= | CA2513065275 | MT-ND4 | c.1010C= (p.Thr337=) | |
| MT | m.11769C>G | CA414810999 | MT-ND4 | c.1010C>G (p.Thr337Ser) | |
| MT | m.11769C>T | CA414811001 | MT-ND4 | c.1010C>T (p.Thr337Ile) | |
| MT | m.11770T>A | CA913168555 | MT-ND4 | c.1011T>A (p.Thr337=) | |
| MT | m.11770T>C | CA913168551 | MT-ND4 | c.1011T>C (p.Thr337=) | dbSNP |
| MT | m.11770T>G | CA913168553 | MT-ND4 | c.1011T>G (p.Thr337=) | |
| MT | m.11770T= | CA2499567271 | MT-ND4 | c.1011T= (p.Thr337=) | |
| MT | m.11771C>A | CA414811004 | MT-ND4 | c.1012C>A (p.His338Asn) | dbSNP |
| MT | m.11771C= | CA2499567272 | MT-ND4 | c.1012C= (p.His338=) | |
| MT | m.11771C>G | CA414811005 | MT-ND4 | c.1012C>G (p.His338Asp) | |
| MT | m.11771C>T | CA414811007 | MT-ND4 | c.1012C>T (p.His338Tyr) | |
| MT | m.11772A= | CA2573328350 | MT-ND4 | c.1013A= (p.His338=) | |
| MT | m.11772A>C | CA414811010 | MT-ND4 | c.1013A>C (p.His338Pro) | |
| MT | m.11772A>G | CA414811011 | MT-ND4 | c.1013A>G (p.His338Arg) | |
| MT | m.11772A>T | CA414811012 | MT-ND4 | c.1013A>T (p.His338Leu) | |
| MT | m.11773C>A | CA414811017 | MT-ND4 | c.1014C>A (p.His338Gln) | |
| MT | m.11773C= | CA2573328351 | MT-ND4 | c.1014C= (p.His338=) | |
| MT | m.11773C>G | CA414811015 | MT-ND4 | c.1014C>G (p.His338Gln) | |
| MT | m.11773C>T | CA913168563 | MT-ND4 | c.1014C>T (p.His338=) | dbSNP |
| MT | m.11774A= | CA2573328352 | MT-ND4 | c.1015A= (p.Ser339=) | |
| MT | m.11774A>C | CA414811019 | MT-ND4 | c.1015A>C (p.Ser339Arg) | |
| MT | m.11774A>G | CA414811021 | MT-ND4 | c.1015A>G (p.Ser339Gly) | |
| MT | m.11774A>T | CA414811023 | MT-ND4 | c.1015A>T (p.Ser339Cys) | |
| MT | m.11775G>A | CA414811025 | MT-ND4 | c.1016G>A (p.Ser339Asn) | COSMIC |
| MT | m.11775G>C | CA414811027 | MT-ND4 | c.1016G>C (p.Ser339Thr) | |
| MT | m.11775G= | CA2573328355 | MT-ND4 | c.1016G= (p.Ser339=) | |
| MT | m.11775G>T | CA414811029 | MT-ND4 | c.1016G>T (p.Ser339Ile) | |
| MT | m.11776T>A | CA414811032 | MT-ND4 | c.1017T>A (p.Ser339Arg) | |
| MT | m.11776T>C | CA913168575 | MT-ND4 | c.1017T>C (p.Ser339=) | dbSNP |
| MT | m.11776T>G | CA337099292 | MT-ND4 | c.1017T>G (p.Ser339Arg) | dbSNP |
| MT | m.11776T= | CA2499567273 | MT-ND4 | c.1017T= (p.Ser339=) | |
| MT | m.11777C>A | CA120636 | MT-ND4 | c.1018C>A (p.Arg340Ser) | ClinVar dbSNP |
| MT | m.11777C= | CA2499567274 | MT-ND4 | c.1018C= (p.Arg340=) | |
| MT | m.11777C>G | CA337099295 | MT-ND4 | c.1018C>G (p.Arg340Gly) | dbSNP |
| MT | m.11777C>T | CA414811036 | MT-ND4 | c.1018C>T (p.Arg340Cys) | |
| MT | m.11778G>A | CA340939 | MT-ND4 | c.1019G>A (p.Arg340His) | ClinVar dbSNP |
| MT | m.11778G>C | CA414811039 | MT-ND4 | c.1019G>C (p.Arg340Pro) | |
| MT | m.11778G= | CA2499567275 | MT-ND4 | c.1019G= (p.Arg340=) | |
| MT | m.11778G>T | CA414811041 | MT-ND4 | c.1019G>T (p.Arg340Leu) | |
| MT | m.11779C>A | CA913168602 | MT-ND4 | c.1020C>A (p.Arg340=) | |
| MT | m.11779C= | CA2573328365 | MT-ND4 | c.1020C= (p.Arg340=) | |
| MT | m.11779C>G | CA913168600 | MT-ND4 | c.1020C>G (p.Arg340=) | |
| MT | m.11779C>T | CA913168603 | MT-ND4 | c.1020C>T (p.Arg340=) | |
| MT | m.11780A= | CA2573328366 | MT-ND4 | c.1021A= (p.Ile341=) | |
| MT | m.11780A>C | CA414811044 | MT-ND4 | c.1021A>C (p.Ile341Leu) | |
| MT | m.11780A>G | CA414811047 | MT-ND4 | c.1021A>G (p.Ile341Val) | |
| MT | m.11780A>T | CA414811046 | MT-ND4 | c.1021A>T (p.Ile341Phe) | |
| MT | m.11781T>A | CA414811050 | MT-ND4 | c.1022T>A (p.Ile341Asn) | |
| MT | m.11781T>C | CA414811052 | MT-ND4 | c.1022T>C (p.Ile341Thr) | ClinVar dbSNP |
| MT | m.11781T>G | CA414811053 | MT-ND4 | c.1022T>G (p.Ile341Ser) | |
| MT | m.11781T= | CA2499567276 | MT-ND4 | c.1022T= (p.Ile341=) | |
| MT | m.11782C>A | CA913168610 | MT-ND4 | c.1023C>A (p.Ile341=) | |
| MT | m.11782C= | CA2499567277 | MT-ND4 | c.1023C= (p.Ile341=) | |
| MT | m.11782C>G | CA414811055 | MT-ND4 | c.1023C>G (p.Ile341Met) | |
| MT | m.11782C>T | CA913168608 | MT-ND4 | c.1023C>T (p.Ile341=) | dbSNP |
| MT | m.11783A= | CA2573328368 | MT-ND4 | c.1024A= (p.Ile342=) | |
| MT | m.11783A>C | CA414811058 | MT-ND4 | c.1024A>C (p.Ile342Leu) | |
| MT | m.11783A>G | CA414811060 | MT-ND4 | c.1024A>G (p.Ile342Val) | |
| MT | m.11783A>T | CA414811061 | MT-ND4 | c.1024A>T (p.Ile342Leu) | |
| MT | m.11784T>A | CA414811064 | MT-ND4 | c.1025T>A (p.Ile342Lys) | |
| MT | m.11784T>C | CA414811066 | MT-ND4 | c.1025T>C (p.Ile342Thr) | |
| MT | m.11784T>G | CA414811068 | MT-ND4 | c.1025T>G (p.Ile342Arg) | |
| MT | m.11784T= | CA2573328370 | MT-ND4 | c.1025T= (p.Ile342=) | |
| MT | m.11785A= | CA2573328372 | MT-ND4 | c.1026A= (p.Ile342=) | |
| MT | m.11785A>C | CA913168624 | MT-ND4 | c.1026A>C (p.Ile342=) | |
| MT | m.11785A>G | CA414811070 | MT-ND4 | c.1026A>G (p.Ile342Met) | |
| MT | m.11785A>T | CA913168623 | MT-ND4 | c.1026A>T (p.Ile342=) | |
| MT | m.11786A= | CA2573328375 | MT-ND4 | c.1027A= (p.Ile343=) | |
| MT | m.11786A>C | CA414811072 | MT-ND4 | c.1027A>C (p.Ile343Leu) | |
| MT | m.11786A>G | CA414811076 | MT-ND4 | c.1027A>G (p.Ile343Val) | |
| MT | m.11786A>T | CA414811074 | MT-ND4 | c.1027A>T (p.Ile343Phe) | |
| MT | m.11787T>A | CA414811078 | MT-ND4 | c.1028T>A (p.Ile343Asn) | |
| MT | m.11787T>C | CA414811082 | MT-ND4 | c.1028T>C (p.Ile343Thr) | dbSNP |
| MT | m.11787T>G | CA414811080 | MT-ND4 | c.1028T>G (p.Ile343Ser) | |
| MT | m.11787T= | CA2513284667 | MT-ND4 | c.1028T= (p.Ile343=) | |
| MT | m.11788C>A | CA913168634 | MT-ND4 | c.1029C>A (p.Ile343=) | |
| MT | m.11788C= | CA2499567278 | MT-ND4 | c.1029C= (p.Ile343=) | |
| MT | m.11788C>G | CA414811084 | MT-ND4 | c.1029C>G (p.Ile343Met) | |
| MT | m.11788C>T | CA913168641 | MT-ND4 | c.1029C>T (p.Ile343=) | dbSNP |
| MT | m.11789C>A | CA414811086 | MT-ND4 | c.1030C>A (p.Leu344Ile) | |
| MT | m.11789C= | CA2573328378 | MT-ND4 | c.1030C= (p.Leu344=) | |
| MT | m.11789C>G | CA414811088 | MT-ND4 | c.1030C>G (p.Leu344Val) | |
| MT | m.11789C>T | CA414811090 | MT-ND4 | c.1030C>T (p.Leu344Phe) | |
| MT | m.11790T>A | CA414811092 | MT-ND4 | c.1031T>A (p.Leu344His) | |
| MT | m.11790T>C | CA414811094 | MT-ND4 | c.1031T>C (p.Leu344Pro) | |
| MT | m.11790T>G | CA414811096 | MT-ND4 | c.1031T>G (p.Leu344Arg) | |
| MT | m.11790T= | CA2573328379 | MT-ND4 | c.1031T= (p.Leu344=) | |
| MT | m.11791C>A | CA913168648 | MT-ND4 | c.1032C>A (p.Leu344=) | |
| MT | m.11791C= | CA2499567279 | MT-ND4 | c.1032C= (p.Leu344=) | |
| MT | m.11791C>G | CA913168650 | MT-ND4 | c.1032C>G (p.Leu344=) | |
| MT | m.11791C>T | CA913168647 | MT-ND4 | c.1032C>T (p.Leu344=) | dbSNP |
| MT | m.11792T>A | CA414811099 | MT-ND4 | c.1033T>A (p.Ser345Thr) | |
| MT | m.11792T>C | CA414811100 | MT-ND4 | c.1033T>C (p.Ser345Pro) | |
| MT | m.11792T>G | CA414811102 | MT-ND4 | c.1033T>G (p.Ser345Ala) | ClinVar dbSNP |
| MT | m.11792T= | CA2499567280 | MT-ND4 | c.1033T= (p.Ser345=) | |
| MT | m.11793C>A | CA414811108 | MT-ND4 | c.1034C>A (p.Ser345Tyr) | |
| MT | m.11793C= | CA2573328381 | MT-ND4 | c.1034C= (p.Ser345=) | |
| MT | m.11793C>G | CA414811106 | MT-ND4 | c.1034C>G (p.Ser345Cys) | |
| MT | m.11793C>T | CA414811104 | MT-ND4 | c.1034C>T (p.Ser345Phe) | |
| MT | m.11794T>A | CA913168665 | MT-ND4 | c.1035T>A (p.Ser345=) | |
| MT | m.11794T>C | CA913168667 | MT-ND4 | c.1035T>C (p.Ser345=) | dbSNP |
| MT | m.11794T>G | CA913168670 | MT-ND4 | c.1035T>G (p.Ser345=) | |
| MT | m.11794T= | CA2499567281 | MT-ND4 | c.1035T= (p.Ser345=) | |
| MT | m.11795C>A | CA414811111 | MT-ND4 | c.1036C>A (p.Gln346Lys) | |
| MT | m.11795C= | CA2573328384 | MT-ND4 | c.1036C= (p.Gln346=) | |
| MT | m.11795C>G | CA414811112 | MT-ND4 | c.1036C>G (p.Gln346Glu) | |
| MT | m.11795C>T | CA414811114 | MT-ND4 | c.1036C>T (p.Gln346Ter) | |
| MT | m.11796A= | CA2573328386 | MT-ND4 | c.1037A= (p.Gln346=) | |
| MT | m.11796A>C | CA414811116 | MT-ND4 | c.1037A>C (p.Gln346Pro) | |
| MT | m.11796A>G | CA414811118 | MT-ND4 | c.1037A>G (p.Gln346Arg) | |
| MT | m.11796A>T | CA414811119 | MT-ND4 | c.1037A>T (p.Gln346Leu) | |
| MT | m.11797A= | CA2499567282 | MT-ND4 | c.1038A= (p.Gln346=) | |
| MT | m.11797A>C | CA414811122 | MT-ND4 | c.1038A>C (p.Gln346His) | |
| MT | m.11797A>G | CA913168684 | MT-ND4 | c.1038A>G (p.Gln346=) | dbSNP |
| MT | m.11797A>T | CA414811124 | MT-ND4 | c.1038A>T (p.Gln346His) | |
| MT | m.11798G>A | CA414811127 | MT-ND4 | c.1039G>A (p.Gly347Arg) | |
| MT | m.11798G>C | CA414811128 | MT-ND4 | c.1039G>C (p.Gly347Arg) | |
| MT | m.11798G= | CA2573328389 | MT-ND4 | c.1039G= (p.Gly347=) | |
| MT | m.11798G>T | CA414811131 | MT-ND4 | c.1039G>T (p.Gly347Ter) |