OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | 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.13063G>A | CA414816476 | MT-ND5 | c.727G>A (p.Val243Ile) | ClinVar dbSNP COSMIC |
| MT | m.13063G>C | CA414816474 | MT-ND5 | c.727G>C (p.Val243Leu) | |
| MT | m.13063G= | CA2499567842 | MT-ND5 | c.727G= (p.Val243=) | |
| MT | m.13063G>T | CA414816475 | MT-ND5 | c.727G>T (p.Val243Phe) | |
| MT | m.13064T>A | CA414816477 | MT-ND5 | c.728T>A (p.Val243Asp) | |
| MT | m.13064T>C | CA414816478 | MT-ND5 | c.728T>C (p.Val243Ala) | ClinVar dbSNP |
| MT | m.13064T>G | CA414816479 | MT-ND5 | c.728T>G (p.Val243Gly) | |
| MT | m.13064T= | CA2499567843 | MT-ND5 | c.728T= (p.Val243=) | |
| MT | m.13065C>A | CA913170716 | MT-ND5 | c.729C>A (p.Val243=) | |
| MT | m.13065C= | CA2499567844 | MT-ND5 | c.729C= (p.Val243=) | |
| MT | m.13065C>G | CA337099615 | MT-ND5 | c.729C>G (p.Val243=) | |
| MT | m.13065C>T | CA337099617 | MT-ND5 | c.729C>T (p.Val243=) | dbSNP |
| MT | m.13066T>A | CA414816480 | MT-ND5 | c.730T>A (p.Ser244Thr) | |
| MT | m.13066T>C | CA414816481 | MT-ND5 | c.730T>C (p.Ser244Pro) | |
| MT | m.13066T>G | CA414816482 | MT-ND5 | c.730T>G (p.Ser244Ala) | |
| MT | m.13066T= | CA2573322923 | MT-ND5 | c.730T= (p.Ser244=) | |
| MT | m.13067C>A | CA414816483 | MT-ND5 | c.731C>A (p.Ser244Ter) | |
| MT | m.13067C= | CA2573322929 | MT-ND5 | c.731C= (p.Ser244=) | |
| MT | m.13067C>G | CA414816484 | MT-ND5 | c.731C>G (p.Ser244Ter) | |
| MT | m.13067C>T | CA414816485 | MT-ND5 | c.731C>T (p.Ser244Leu) | |
| MT | m.13068A= | CA2499567845 | MT-ND5 | c.732A= (p.Ser244=) | |
| MT | m.13068A>C | CA913170717 | MT-ND5 | c.732A>C (p.Ser244=) | |
| MT | m.13068A>G | CA913170718 | MT-ND5 | c.732A>G (p.Ser244=) | dbSNP |
| MT | m.13068A>T | CA913170719 | MT-ND5 | c.732A>T (p.Ser244=) | |
| MT | m.13069G>A | CA414816488 | MT-ND5 | c.733G>A (p.Ala245Thr) | dbSNP COSMIC |
| MT | m.13069G>C | CA414816487 | MT-ND5 | c.733G>C (p.Ala245Pro) | |
| MT | m.13069G= | CA2499567846 | MT-ND5 | c.733G= (p.Ala245=) | |
| MT | m.13069G>T | CA414816486 | MT-ND5 | c.733G>T (p.Ala245Ser) | |
| MT | m.13070C>A | CA414816489 | MT-ND5 | c.734C>A (p.Ala245Asp) | |
| MT | m.13070C= | CA2573322945 | MT-ND5 | c.734C= (p.Ala245=) | |
| MT | m.13070C>G | CA414816490 | MT-ND5 | c.734C>G (p.Ala245Gly) | |
| MT | m.13070C>T | CA414816491 | MT-ND5 | c.734C>T (p.Ala245Val) | |
| MT | m.13071C>A | CA337099619 | MT-ND5 | c.735C>A (p.Ala245=) | dbSNP |
| MT | m.13071C= | CA2499567847 | MT-ND5 | c.735C= (p.Ala245=) | |
| MT | m.13071C>G | CA913170720 | MT-ND5 | c.735C>G (p.Ala245=) | |
| MT | m.13071C>T | CA913170721 | MT-ND5 | c.735C>T (p.Ala245=) | dbSNP |
| MT | m.13072C>A | CA414816492 | MT-ND5 | c.736C>A (p.Leu246Ile) | |
| MT | m.13072C= | CA2499567848 | MT-ND5 | c.736C= (p.Leu246=) | |
| MT | m.13072C>G | CA414816493 | MT-ND5 | c.736C>G (p.Leu246Val) | |
| MT | m.13072C>T | CA913170722 | MT-ND5 | c.736C>T (p.Leu246=) | dbSNP |
| MT | m.13073T>A | CA414816494 | MT-ND5 | c.737T>A (p.Leu246Gln) | ClinVar dbSNP |
| MT | m.13073T>C | CA414816495 | MT-ND5 | c.737T>C (p.Leu246Pro) | |
| MT | m.13073T>G | CA414816496 | MT-ND5 | c.737T>G (p.Leu246Arg) | |
| MT | m.13073T= | CA2499567849 | MT-ND5 | c.737T= (p.Leu246=) | |
| MT | m.13074A= | CA2499567850 | MT-ND5 | c.738A= (p.Leu246=) | |
| MT | m.13074A>C | CA913170723 | MT-ND5 | c.738A>C (p.Leu246=) | |
| MT | m.13074A>G | CA913170724 | MT-ND5 | c.738A>G (p.Leu246=) | dbSNP |
| MT | m.13074A>T | CA913170725 | MT-ND5 | c.738A>T (p.Leu246=) | |
| MT | m.13075C>A | CA414816497 | MT-ND5 | c.739C>A (p.Leu247Ile) | |
| MT | m.13075C= | CA2573322987 | MT-ND5 | c.739C= (p.Leu247=) | |
| MT | m.13075C>G | CA414816498 | MT-ND5 | c.739C>G (p.Leu247Val) | |
| MT | m.13075C>T | CA414816499 | MT-ND5 | c.739C>T (p.Leu247Phe) | |
| MT | m.13076T>A | CA414816500 | MT-ND5 | c.740T>A (p.Leu247His) | |
| MT | m.13076T>C | CA414816502 | MT-ND5 | c.740T>C (p.Leu247Pro) | |
| MT | m.13076T>G | CA414816501 | MT-ND5 | c.740T>G (p.Leu247Arg) | |
| MT | m.13076T= | CA2573322999 | MT-ND5 | c.740T= (p.Leu247=) | |
| MT | m.13077C>A | CA913170726 | MT-ND5 | c.741C>A (p.Leu247=) | |
| MT | m.13077C= | CA2499567851 | MT-ND5 | c.741C= (p.Leu247=) | |
| MT | m.13077C>G | CA913170727 | MT-ND5 | c.741C>G (p.Leu247=) | |
| MT | m.13077C>T | CA645611416 | MT-ND5 | c.741C>T (p.Leu247=) | dbSNP COSMIC |
| MT | m.13078C>A | CA414816503 | MT-ND5 | c.742C>A (p.His248Asn) | |
| MT | m.13078C= | CA2573323017 | MT-ND5 | c.742C= (p.His248=) | |
| MT | m.13078C>G | CA414816505 | MT-ND5 | c.742C>G (p.His248Asp) | |
| MT | m.13078C>T | CA414816504 | MT-ND5 | c.742C>T (p.His248Tyr) | |
| MT | m.13079A= | CA2573323021 | MT-ND5 | c.743A= (p.His248=) | |
| MT | m.13079A>C | CA414816506 | MT-ND5 | c.743A>C (p.His248Pro) | |
| MT | m.13079A>G | CA414816507 | MT-ND5 | c.743A>G (p.His248Arg) | |
| MT | m.13079A>T | CA414816508 | MT-ND5 | c.743A>T (p.His248Leu) | |
| MT | m.13080C>A | CA414816509 | MT-ND5 | c.744C>A (p.His248Gln) | |
| MT | m.13080C= | CA2573323030 | MT-ND5 | c.744C= (p.His248=) | |
| MT | m.13080C>G | CA414816510 | MT-ND5 | c.744C>G (p.His248Gln) | |
| MT | m.13080C>T | CA913170728 | MT-ND5 | c.744C>T (p.His248=) | |
| MT | m.13081T>A | CA414816511 | MT-ND5 | c.745T>A (p.Ser249Thr) | |
| MT | m.13081T>C | CA414816512 | MT-ND5 | c.745T>C (p.Ser249Pro) | |
| MT | m.13081T>G | CA414816513 | MT-ND5 | c.745T>G (p.Ser249Ala) | |
| MT | m.13081T= | CA2573323036 | MT-ND5 | c.745T= (p.Ser249=) | |
| MT | m.13082C>A | CA414816514 | MT-ND5 | c.746C>A (p.Ser249Ter) | |
| MT | m.13082C= | CA2573323053 | MT-ND5 | c.746C= (p.Ser249=) | |
| MT | m.13082C>G | CA414816515 | MT-ND5 | c.746C>G (p.Ser249Ter) | |
| MT | m.13082C>T | CA414816516 | MT-ND5 | c.746C>T (p.Ser249Leu) | |
| MT | m.13083A= | CA2573323059 | MT-ND5 | c.747A= (p.Ser249=) | |
| MT | m.13083A>C | CA913170731 | MT-ND5 | c.747A>C (p.Ser249=) | |
| MT | m.13083A>G | CA913170729 | MT-ND5 | c.747A>G (p.Ser249=) | |
| MT | m.13083A>T | CA913170730 | MT-ND5 | c.747A>T (p.Ser249=) | |
| MT | m.13084A= | CA2499567852 | MT-ND5 | c.748A= (p.Ser250=) | |
| MT | m.13084A>C | CA414816517 | MT-ND5 | c.748A>C (p.Ser250Arg) | |
| MT | m.13084A>G | CA414816518 | MT-ND5 | c.748A>G (p.Ser250Gly) | |
| MT | m.13084A>T | CA120631 | MT-ND5 | c.748A>T (p.Ser250Cys) | ClinVar dbSNP |
| MT | m.13085G>A | CA414816519 | MT-ND5 | c.749G>A (p.Ser250Asn) | |
| MT | m.13085G>C | CA414816520 | MT-ND5 | c.749G>C (p.Ser250Thr) | |
| MT | m.13085G= | CA2573323077 | MT-ND5 | c.749G= (p.Ser250=) | |
| MT | m.13085G>T | CA414816521 | MT-ND5 | c.749G>T (p.Ser250Ile) | |
| MT | m.13086C>A | CA414816522 | MT-ND5 | c.750C>A (p.Ser250Arg) | |
| MT | m.13086C= | CA2499567853 | MT-ND5 | c.750C= (p.Ser250=) | |
| MT | m.13086C>G | CA414816523 | MT-ND5 | c.750C>G (p.Ser250Arg) | |
| MT | m.13086C>T | CA913170732 | MT-ND5 | c.750C>T (p.Ser250=) | dbSNP |
| MT | m.13087A= | CA2573323085 | MT-ND5 | c.751A= (p.Thr251=) | |
| MT | m.13087A>C | CA414816524 | MT-ND5 | c.751A>C (p.Thr251Pro) | |
| MT | m.13087A>G | CA414816525 | MT-ND5 | c.751A>G (p.Thr251Ala) | |
| MT | m.13087A>T | CA414816526 | MT-ND5 | c.751A>T (p.Thr251Ser) | |
| MT | m.13088C>A | CA414816528 | MT-ND5 | c.752C>A (p.Thr251Asn) | |
| MT | m.13088C= | CA2573323090 | MT-ND5 | c.752C= (p.Thr251=) | |
| MT | m.13088C>G | CA414816529 | MT-ND5 | c.752C>G (p.Thr251Ser) | |
| MT | m.13088C>T | CA414816527 | MT-ND5 | c.752C>T (p.Thr251Ile) | |
| MT | m.13089T>A | CA913170733 | MT-ND5 | c.753T>A (p.Thr251=) | |
| MT | m.13089T>C | CA913170734 | MT-ND5 | c.753T>C (p.Thr251=) | dbSNP |
| MT | m.13089T>G | CA913170735 | MT-ND5 | c.753T>G (p.Thr251=) | |
| MT | m.13089T= | CA2499567854 | MT-ND5 | c.753T= (p.Thr251=) | |
| MT | m.13090A= | CA2573323097 | MT-ND5 | c.754A= (p.Ile252=) | |
| MT | m.13090A>C | CA414816530 | MT-ND5 | c.754A>C (p.Ile252Leu) | |
| MT | m.13090A>G | CA414816531 | MT-ND5 | c.754A>G (p.Ile252Val) | |
| MT | m.13090A>T | CA414816532 | MT-ND5 | c.754A>T (p.Ile252Leu) | |
| MT | m.13091T>A | CA414816533 | MT-ND5 | c.755T>A (p.Ile252Lys) | |
| MT | m.13091T>C | CA414816534 | MT-ND5 | c.755T>C (p.Ile252Thr) | |
| MT | m.13091T>G | CA414816535 | MT-ND5 | c.755T>G (p.Ile252Arg) | |
| MT | m.13091T= | CA2573323100 | MT-ND5 | c.755T= (p.Ile252=) | |
| MT | m.13092A= | CA2499567855 | MT-ND5 | c.756A= (p.Ile252=) | |
| MT | m.13092A>C | CA913170736 | MT-ND5 | c.756A>C (p.Ile252=) | |
| MT | m.13092A>G | CA337099622 | MT-ND5 | c.756A>G (p.Ile252Met) | dbSNP |
| MT | m.13092A>T | CA913170737 | MT-ND5 | c.756A>T (p.Ile252=) | |
| MT | m.13093G>A | CA414816536 | MT-ND5 | c.757G>A (p.Val253Ile) | dbSNP |
| MT | m.13093G>C | CA414816537 | MT-ND5 | c.757G>C (p.Val253Leu) | |
| MT | m.13093G= | CA2573323104 | MT-ND5 | c.757G= (p.Val253=) | |
| MT | m.13093G>T | CA414816538 | MT-ND5 | c.757G>T (p.Val253Phe) | |
| MT | m.13094T>A | CA414816541 | MT-ND5 | c.758T>A (p.Val253Asp) | |
| MT | m.13094T>C | CA414816540 | MT-ND5 | c.758T>C (p.Val253Ala) | ClinVar dbSNP |
| MT | m.13094T>G | CA414816539 | MT-ND5 | c.758T>G (p.Val253Gly) | |
| MT | m.13094T= | CA2499567856 | MT-ND5 | c.758T= (p.Val253=) | |
| MT | m.13095T>A | CA913170738 | MT-ND5 | c.759T>A (p.Val253=) | |
| MT | m.13095T>C | CA337099624 | MT-ND5 | c.759T>C (p.Val253=) | dbSNP |
| MT | m.13095T>G | CA913170739 | MT-ND5 | c.759T>G (p.Val253=) | dbSNP |
| MT | m.13095T= | CA2499567857 | MT-ND5 | c.759T= (p.Val253=) | |
| MT | m.13096G>A | CA414816542 | MT-ND5 | c.760G>A (p.Val254Ile) | |
| MT | m.13096G>C | CA414816543 | MT-ND5 | c.760G>C (p.Val254Leu) | |
| MT | m.13096G= | CA2573323124 | MT-ND5 | c.760G= (p.Val254=) | |
| MT | m.13096G>T | CA414816544 | MT-ND5 | c.760G>T (p.Val254Leu) | |
| MT | m.13097T>A | CA414816545 | MT-ND5 | c.761T>A (p.Val254Glu) | |
| MT | m.13097T>C | CA414816546 | MT-ND5 | c.761T>C (p.Val254Ala) | ClinVar dbSNP |
| MT | m.13097T>G | CA414816547 | MT-ND5 | c.761T>G (p.Val254Gly) | |
| MT | m.13097T= | CA2499567858 | MT-ND5 | c.761T= (p.Val254=) | |
| MT | m.13098A= | CA2499567859 | MT-ND5 | c.762A= (p.Val254=) | |
| MT | m.13098A>C | CA913170740 | MT-ND5 | c.762A>C (p.Val254=) | dbSNP |
| MT | m.13098A>G | CA913170741 | MT-ND5 | c.762A>G (p.Val254=) | dbSNP |
| MT | m.13098A>T | CA913170742 | MT-ND5 | c.762A>T (p.Val254=) | dbSNP |
| MT | m.13099G>A | CA414816548 | MT-ND5 | c.763G>A (p.Ala255Thr) | ClinVar dbSNP |
| MT | m.13099G>C | CA414816549 | MT-ND5 | c.763G>C (p.Ala255Pro) | |
| MT | m.13099G= | CA2499567860 | MT-ND5 | c.763G= (p.Ala255=) | |
| MT | m.13099G>T | CA414816550 | MT-ND5 | c.763G>T (p.Ala255Ser) | |
| MT | m.13100C>A | CA414816551 | MT-ND5 | c.764C>A (p.Ala255Glu) | |
| MT | m.13100C= | CA2513073422 | MT-ND5 | c.764C= (p.Ala255=) | |
| MT | m.13100C>G | CA414816552 | MT-ND5 | c.764C>G (p.Ala255Gly) | |
| MT | m.13100C>T | CA414816553 | MT-ND5 | c.764C>T (p.Ala255Val) | |
| MT | m.13101A= | CA2499567861 | MT-ND5 | c.765A= (p.Ala255=) | |
| MT | m.13101A>C | CA913170743 | MT-ND5 | c.765A>C (p.Ala255=) | dbSNP |
| MT | m.13101A>G | CA913170744 | MT-ND5 | c.765A>G (p.Ala255=) | dbSNP |
| MT | m.13101A>T | CA913170745 | MT-ND5 | c.765A>T (p.Ala255=) | |
| MT | m.13102G>A | CA414816556 | MT-ND5 | c.766G>A (p.Gly256Arg) | |
| MT | m.13102G>C | CA414816555 | MT-ND5 | c.766G>C (p.Gly256Arg) | |
| MT | m.13102G= | CA2573323153 | MT-ND5 | c.766G= (p.Gly256=) | |
| MT | m.13102G>T | CA414816554 | MT-ND5 | c.766G>T (p.Gly256Ter) | |
| MT | m.13103G>A | CA414816558 | MT-ND5 | c.767G>A (p.Gly256Glu) | |
| MT | m.13103G>C | CA414816557 | MT-ND5 | c.767G>C (p.Gly256Ala) | |
| MT | m.13103G= | CA2513213342 | MT-ND5 | c.767G= (p.Gly256=) | |
| MT | m.13103G>T | CA414816559 | MT-ND5 | c.767G>T (p.Gly256Val) | |
| MT | m.13104A= | CA2499567862 | MT-ND5 | c.768A= (p.Gly256=) | |
| MT | m.13104A>C | CA913170746 | MT-ND5 | c.768A>C (p.Gly256=) | |
| MT | m.13104A>G | CA337099626 | MT-ND5 | c.768A>G (p.Gly256=) | dbSNP |
| MT | m.13104A>T | CA913170747 | MT-ND5 | c.768A>T (p.Gly256=) | dbSNP |
| MT | m.13105A= | CA2499567863 | MT-ND5 | c.769A= (p.Ile257=) | |
| MT | m.13105A>C | CA414816560 | MT-ND5 | c.769A>C (p.Ile257Leu) | |
| MT | m.13105A>G | CA337099628 | MT-ND5 | c.769A>G (p.Ile257Val) | ClinVar dbSNP |
| MT | m.13105A>T | CA414816561 | MT-ND5 | c.769A>T (p.Ile257Phe) | |
| MT | m.13106T>A | CA414816562 | MT-ND5 | c.770T>A (p.Ile257Asn) | |
| MT | m.13106T>C | CA414816563 | MT-ND5 | c.770T>C (p.Ile257Thr) | ClinVar dbSNP |
| MT | m.13106T>G | CA414816564 | MT-ND5 | c.770T>G (p.Ile257Ser) | |
| MT | m.13106T= | CA2499567864 | MT-ND5 | c.770T= (p.Ile257=) | |
| MT | m.13107C>A | CA913170748 | MT-ND5 | c.771C>A (p.Ile257=) | |
| MT | m.13107C= | CA2573323179 | MT-ND5 | c.771C= (p.Ile257=) | |
| MT | m.13107C>G | CA414816565 | MT-ND5 | c.771C>G (p.Ile257Met) | |
| MT | m.13107C>T | CA913170749 | MT-ND5 | c.771C>T (p.Ile257=) | |
| MT | m.13108T>A | CA414816566 | MT-ND5 | c.772T>A (p.Phe258Ile) | |
| MT | m.13108T>C | CA414816567 | MT-ND5 | c.772T>C (p.Phe258Leu) | |
| MT | m.13108T>G | CA414816568 | MT-ND5 | c.772T>G (p.Phe258Val) | |
| MT | m.13108T= | CA2573323185 | MT-ND5 | c.772T= (p.Phe258=) | |
| MT | m.13109T>A | CA414816571 | MT-ND5 | c.773T>A (p.Phe258Tyr) | |
| MT | m.13109T>C | CA414816570 | MT-ND5 | c.773T>C (p.Phe258Ser) | |
| MT | m.13109T>G | CA414816569 | MT-ND5 | c.773T>G (p.Phe258Cys) | |
| MT | m.13109T= | CA2513182586 | MT-ND5 | c.773T= (p.Phe258=) | |
| MT | m.13110C>A | CA414816572 | MT-ND5 | c.774C>A (p.Phe258Leu) | |
| MT | m.13110C= | CA2499567865 | MT-ND5 | c.774C= (p.Phe258=) | |
| MT | m.13110C>G | CA414816573 | MT-ND5 | c.774C>G (p.Phe258Leu) | |
| MT | m.13110C>T | CA913170750 | MT-ND5 | c.774C>T (p.Phe258=) | dbSNP |
| MT | m.13111T>A | CA414816574 | MT-ND5 | c.775T>A (p.Leu259Ile) | |
| MT | m.13111T>C | CA913170751 | MT-ND5 | c.775T>C (p.Leu259=) | dbSNP |
| MT | m.13111T>G | CA414816575 | MT-ND5 | c.775T>G (p.Leu259Val) | |
| MT | m.13111T= | CA2499567866 | MT-ND5 | c.775T= (p.Leu259=) | |
| MT | m.13112T>A | CA414816576 | MT-ND5 | c.776T>A (p.Leu259Ter) | |
| MT | m.13112T>C | CA414816577 | MT-ND5 | c.776T>C (p.Leu259Ser) | ClinVar dbSNP |
| MT | m.13112T>G | CA414816578 | MT-ND5 | c.776T>G (p.Leu259Ter) | |
| MT | m.13112T= | CA2499567867 | MT-ND5 | c.776T= (p.Leu259=) | |
| MT | m.13113A= | CA2573323213 | MT-ND5 | c.777A= (p.Leu259=) | |
| MT | m.13113A>C | CA414816579 | MT-ND5 | c.777A>C (p.Leu259Phe) | |
| MT | m.13113A>G | CA913170752 | MT-ND5 | c.777A>G (p.Leu259=) | |
| MT | m.13113A>T | CA414816580 | MT-ND5 | c.777A>T (p.Leu259Phe) | |
| MT | m.13114C>A | CA414816581 | MT-ND5 | c.778C>A (p.Leu260Ile) | |
| MT | m.13114C= | CA2573323216 | MT-ND5 | c.778C= (p.Leu260=) | |
| MT | m.13114C>G | CA414816582 | MT-ND5 | c.778C>G (p.Leu260Val) | |
| MT | m.13114C>T | CA414816583 | MT-ND5 | c.778C>T (p.Leu260Phe) | |
| MT | m.13115T>A | CA414816584 | MT-ND5 | c.779T>A (p.Leu260His) | |
| MT | m.13115T>C | CA414816586 | MT-ND5 | c.779T>C (p.Leu260Pro) | |
| MT | m.13115T>G | CA414816585 | MT-ND5 | c.779T>G (p.Leu260Arg) | |
| MT | m.13115T= | CA2512959400 | MT-ND5 | c.779T= (p.Leu260=) | |
| MT | m.13116C>A | CA913170753 | MT-ND5 | c.780C>A (p.Leu260=) | |
| MT | m.13116C= | CA2499567868 | MT-ND5 | c.780C= (p.Leu260=) | |
| MT | m.13116C>G | CA913170754 | MT-ND5 | c.780C>G (p.Leu260=) | |
| MT | m.13116C>T | CA913170755 | MT-ND5 | c.780C>T (p.Leu260=) | dbSNP |
| MT | m.13117A= | CA2499567869 | MT-ND5 | c.781A= (p.Ile261=) | |
| MT | m.13117A>C | CA414816587 | MT-ND5 | c.781A>C (p.Ile261Leu) | |
| MT | m.13117A>G | CA337099630 | MT-ND5 | c.781A>G (p.Ile261Val) | ClinVar dbSNP |
| MT | m.13117A>T | CA414816588 | MT-ND5 | c.781A>T (p.Ile261Phe) | |
| MT | m.13118T>A | CA414816589 | MT-ND5 | c.782T>A (p.Ile261Asn) | |
| MT | m.13118T>C | CA414816590 | MT-ND5 | c.782T>C (p.Ile261Thr) | |
| MT | m.13118T>G | CA414816591 | MT-ND5 | c.782T>G (p.Ile261Ser) | COSMIC |
| MT | m.13118T= | CA2573323244 | MT-ND5 | c.782T= (p.Ile261=) | |
| MT | m.13119C>A | CA913170756 | MT-ND5 | c.783C>A (p.Ile261=) | |
| MT | m.13119C= | CA2573323248 | MT-ND5 | c.783C= (p.Ile261=) | |
| MT | m.13119C>G | CA414816592 | MT-ND5 | c.783C>G (p.Ile261Met) | |
| MT | m.13119C>T | CA913170757 | MT-ND5 | c.783C>T (p.Ile261=) | |
| MT | m.13120C>A | CA414816593 | MT-ND5 | c.784C>A (p.Arg262Ser) | |
| MT | m.13120C= | CA2573323256 | MT-ND5 | c.784C= (p.Arg262=) | |
| MT | m.13120C>G | CA414816594 | MT-ND5 | c.784C>G (p.Arg262Gly) | |
| MT | m.13120C>T | CA414816595 | MT-ND5 | c.784C>T (p.Arg262Cys) | |
| MT | m.13121G>A | CA414816598 | MT-ND5 | c.785G>A (p.Arg262His) | dbSNP |
| MT | m.13121G>C | CA414816597 | MT-ND5 | c.785G>C (p.Arg262Pro) | |
| MT | m.13121G= | CA2499567870 | MT-ND5 | c.785G= (p.Arg262=) | |
| MT | m.13121G>T | CA414816596 | MT-ND5 | c.785G>T (p.Arg262Leu) | |
| MT | m.13122C>A | CA913170758 | MT-ND5 | c.786C>A (p.Arg262=) | |
| MT | m.13122C= | CA2573323266 | MT-ND5 | c.786C= (p.Arg262=) | |
| MT | m.13122C>G | CA913170759 | MT-ND5 | c.786C>G (p.Arg262=) | |
| MT | m.13122C>T | CA913170760 | MT-ND5 | c.786C>T (p.Arg262=) | |
| MT | m.13123T>A | CA414816599 | MT-ND5 | c.787T>A (p.Phe263Ile) | |
| MT | m.13123T>C | CA414816600 | MT-ND5 | c.787T>C (p.Phe263Leu) | |
| MT | m.13123T>G | CA414816601 | MT-ND5 | c.787T>G (p.Phe263Val) | |
| MT | m.13123T= | CA2573323271 | MT-ND5 | c.787T= (p.Phe263=) | |
| MT | m.13124T>A | CA414816602 | MT-ND5 | c.788T>A (p.Phe263Tyr) | |
| MT | m.13124T>C | CA414816603 | MT-ND5 | c.788T>C (p.Phe263Ser) | COSMIC |
| MT | m.13124T>G | CA414816604 | MT-ND5 | c.788T>G (p.Phe263Cys) | |
| MT | m.13124T= | CA2513043216 | MT-ND5 | c.788T= (p.Phe263=) | |
| MT | m.13125C>A | CA414816605 | MT-ND5 | c.789C>A (p.Phe263Leu) | |
| MT | m.13125C= | CA2573323282 | MT-ND5 | c.789C= (p.Phe263=) | |
| MT | m.13125C>G | CA414816606 | MT-ND5 | c.789C>G (p.Phe263Leu) | |
| MT | m.13125C>T | CA913170761 | MT-ND5 | c.789C>T (p.Phe263=) | dbSNP |
| MT | m.13126_13127insCCCCCCCCCCCC | CA2573105249 | MT-ND5 | c.790_791insCCCCCCCCCCCC (p.Phe263_His264insProProProPro) | |
| MT | m.13126C>A | CA414816607 | MT-ND5 | c.790C>A (p.His264Asn) | |
| MT | m.13126C= | CA2573323288 | MT-ND5 | c.790C= (p.His264=) | |
| MT | m.13126C>G | CA414816608 | MT-ND5 | c.790C>G (p.His264Asp) | |
| MT | m.13126C>T | CA414816609 | MT-ND5 | c.790C>T (p.His264Tyr) | |
| MT | m.13127A= | CA2573323292 | MT-ND5 | c.791A= (p.His264=) | |
| MT | m.13127A>C | CA414816611 | MT-ND5 | c.791A>C (p.His264Pro) | |
| MT | m.13127A>G | CA414816612 | MT-ND5 | c.791A>G (p.His264Arg) | |
| MT | m.13127A>T | CA414816610 | MT-ND5 | c.791A>T (p.His264Leu) | |
| MT | m.13128C>A | CA414816614 | MT-ND5 | c.792C>A (p.His264Gln) | |
| MT | m.13128C= | CA2573323304 | MT-ND5 | c.792C= (p.His264=) | |
| MT | m.13128C>G | CA414816613 | MT-ND5 | c.792C>G (p.His264Gln) | |
| MT | m.13128C>T | CA913170762 | MT-ND5 | c.792C>T (p.His264=) | |
| MT | m.13132dup | CA2740098384 | MT-ND5 | c.796dup (p.Leu266ProfsTer5) | |
| MT | m.13132del | CA2573105250 | MT-ND5 | c.796del (p.Leu266Ter) | |
| MT | m.13129C>A | CA414816615 | MT-ND5 | c.793C>A (p.Pro265Thr) | |
| MT | m.13129C= | CA2499567871 | MT-ND5 | c.793C= (p.Pro265=) | |
| MT | m.13129C>G | CA414816616 | MT-ND5 | c.793C>G (p.Pro265Ala) | |
| MT | m.13129C>T | CA414816617 | MT-ND5 | c.793C>T (p.Pro265Ser) | ClinVar dbSNP COSMIC |
| MT | m.13130C>A | CA414816620 | MT-ND5 | c.794C>A (p.Pro265His) | |
| MT | m.13130C= | CA2573323322 | MT-ND5 | c.794C= (p.Pro265=) | |
| MT | m.13130C>G | CA414816622 | MT-ND5 | c.794C>G (p.Pro265Arg) | |
| MT | m.13130C>T | CA414816623 | MT-ND5 | c.794C>T (p.Pro265Leu) | |
| MT | m.13131C>A | CA913170765 | MT-ND5 | c.795C>A (p.Pro265=) | |
| MT | m.13131C= | CA2573323330 | MT-ND5 | c.795C= (p.Pro265=) | |
| MT | m.13131C>G | CA913170764 | MT-ND5 | c.795C>G (p.Pro265=) | |
| MT | m.13131C>T | CA913170763 | MT-ND5 | c.795C>T (p.Pro265=) | |
| MT | m.13132C>A | CA414816624 | MT-ND5 | c.796C>A (p.Leu266Ile) | |
| MT | m.13132C= | CA2573323332 | MT-ND5 | c.796C= (p.Leu266=) | |
| MT | m.13132C>G | CA414816626 | MT-ND5 | c.796C>G (p.Leu266Val) | |
| MT | m.13132C>T | CA913170766 | MT-ND5 | c.796C>T (p.Leu266=) | |
| MT | m.13133del | CA2573105252 | MT-ND5 | c.797del (p.Leu266GlnfsTer7) | |
| MT | m.13133T>A | CA414816629 | MT-ND5 | c.797T>A (p.Leu266Gln) | |
| MT | m.13133T>C | CA414816631 | MT-ND5 | c.797T>C (p.Leu266Pro) | |
| MT | m.13133T>G | CA414816633 | MT-ND5 | c.797T>G (p.Leu266Arg) | |
| MT | m.13133T= | CA2573323335 | MT-ND5 | c.797T= (p.Leu266=) | |
| MT | m.13133_13145del | CA2573105251 | MT-ND5 | c.797_809del (p.Leu266ProfsTer3) | |
| MT | m.13134A= | CA2499567872 | MT-ND5 | c.798A= (p.Leu266=) | |
| MT | m.13134A>C | CA913170769 | MT-ND5 | c.798A>C (p.Leu266=) | |
| MT | m.13134A>G | CA913170768 | MT-ND5 | c.798A>G (p.Leu266=) | dbSNP |
| MT | m.13134A>T | CA913170767 | MT-ND5 | c.798A>T (p.Leu266=) | |
| MT | m.13134_13135insTCG | CA2740098385 | MT-ND5 | c.798_799insTCG (p.Leu266_Ala267insSer) | |
| MT | m.13135G>A | CA337099632 | MT-ND5 | c.799G>A (p.Ala267Thr) | ClinVar dbSNP |
| MT | m.13135G>C | CA414816635 | MT-ND5 | c.799G>C (p.Ala267Pro) | |
| MT | m.13135G= | CA2499567873 | MT-ND5 | c.799G= (p.Ala267=) | |
| MT | m.13135G>T | CA414816637 | MT-ND5 | c.799G>T (p.Ala267Ser) | |
| MT | m.13136C>A | CA414816641 | MT-ND5 | c.800C>A (p.Ala267Glu) | |
| MT | m.13136C= | CA2573323343 | MT-ND5 | c.800C= (p.Ala267=) | |
| MT | m.13136C>G | CA414816642 | MT-ND5 | c.800C>G (p.Ala267Gly) | |
| MT | m.13136C>T | CA414816644 | MT-ND5 | c.800C>T (p.Ala267Val) | |
| MT | m.13137A= | CA2573323346 | MT-ND5 | c.801A= (p.Ala267=) | |
| MT | m.13137A>C | CA913170770 | MT-ND5 | c.801A>C (p.Ala267=) | |
| MT | m.13137A>G | CA913170771 | MT-ND5 | c.801A>G (p.Ala267=) | |
| MT | m.13137A>T | CA913170772 | MT-ND5 | c.801A>T (p.Ala267=) | |
| MT | m.13138G>A | CA414816647 | MT-ND5 | c.802G>A (p.Glu268Lys) | |
| MT | m.13138G>C | CA414816649 | MT-ND5 | c.802G>C (p.Glu268Gln) | |
| MT | m.13138G= | CA2573323350 | MT-ND5 | c.802G= (p.Glu268=) | |
| MT | m.13138G>T | CA414816650 | MT-ND5 | c.802G>T (p.Glu268Ter) | |
| MT | m.13139A= | CA2573323353 | MT-ND5 | c.803A= (p.Glu268=) | |
| MT | m.13139A>C | CA414816653 | MT-ND5 | c.803A>C (p.Glu268Ala) | |
| MT | m.13139A>G | CA414816655 | MT-ND5 | c.803A>G (p.Glu268Gly) | |
| MT | m.13139A>T | CA414816656 | MT-ND5 | c.803A>T (p.Glu268Val) | |
| MT | m.13140A= | CA2499567874 | MT-ND5 | c.804A= (p.Glu268=) | |
| MT | m.13140A>C | CA414816659 | MT-ND5 | c.804A>C (p.Glu268Asp) | |
| MT | m.13140A>G | CA913170773 | MT-ND5 | c.804A>G (p.Glu268=) | dbSNP |
| MT | m.13140A>T | CA414816661 | MT-ND5 | c.804A>T (p.Glu268Asp) | |
| MT | m.13141A= | CA2573323362 | MT-ND5 | c.805A= (p.Asn269=) | |
| MT | m.13141A>C | CA414816667 | MT-ND5 | c.805A>C (p.Asn269His) | |
| MT | m.13141A>G | CA414816665 | MT-ND5 | c.805A>G (p.Asn269Asp) | |
| MT | m.13141A>T | CA414816663 | MT-ND5 | c.805A>T (p.Asn269Tyr) | |
| MT | m.13142A= | CA2573323365 | MT-ND5 | c.806A= (p.Asn269=) | |
| MT | m.13142A>C | CA414816669 | MT-ND5 | c.806A>C (p.Asn269Thr) | |
| MT | m.13142A>G | CA414816671 | MT-ND5 | c.806A>G (p.Asn269Ser) | |
| MT | m.13142A>T | CA414816672 | MT-ND5 | c.806A>T (p.Asn269Ile) | |
| MT | m.13143T>A | CA337099634 | MT-ND5 | c.807T>A (p.Asn269Lys) | |
| MT | m.13143T>C | CA913170774 | MT-ND5 | c.807T>C (p.Asn269=) | dbSNP |
| MT | m.13143T>G | CA337099636 | MT-ND5 | c.807T>G (p.Asn269Lys) | |
| MT | m.13143T= | CA2499567875 | MT-ND5 | c.807T= (p.Asn269=) | |
| MT | m.13144A= | CA2513285607 | MT-ND5 | c.808A= (p.Ser270=) | |
| MT | m.13144A>C | CA414816678 | MT-ND5 | c.808A>C (p.Ser270Arg) | |
| MT | m.13144A>G | CA414816679 | MT-ND5 | c.808A>G (p.Ser270Gly) | |
| MT | m.13144A>T | CA414816681 | MT-ND5 | c.808A>T (p.Ser270Cys) | |
| MT | m.13145G>A | CA337099638 | MT-ND5 | c.809G>A (p.Ser270Asn) | ClinVar dbSNP |
| MT | m.13145G>C | CA337099641 | MT-ND5 | c.809G>C (p.Ser270Thr) | |
| MT | m.13145G= | CA2499567876 | MT-ND5 | c.809G= (p.Ser270=) | |
| MT | m.13145G>T | CA337099643 | MT-ND5 | c.809G>T (p.Ser270Ile) | |
| MT | m.13146C>A | CA414816687 | MT-ND5 | c.810C>A (p.Ser270Arg) | |
| MT | m.13146C= | CA2499567877 | MT-ND5 | c.810C= (p.Ser270=) | |
| MT | m.13146C>G | CA414816688 | MT-ND5 | c.810C>G (p.Ser270Arg) | |
| MT | m.13146C>T | CA913170775 | MT-ND5 | c.810C>T (p.Ser270=) | dbSNP |
| MT | m.13147C>A | CA414816691 | MT-ND5 | c.811C>A (p.Pro271Thr) | |
| MT | m.13147C= | CA2499567878 | MT-ND5 | c.811C= (p.Pro271=) | |
| MT | m.13147C>G | CA414816694 | MT-ND5 | c.811C>G (p.Pro271Ala) | |
| MT | m.13147C>T | CA414816693 | MT-ND5 | c.811C>T (p.Pro271Ser) | ClinVar dbSNP |
| MT | m.13148C>A | CA414816697 | MT-ND5 | c.812C>A (p.Pro271Gln) | |
| MT | m.13148C= | CA2573323391 | MT-ND5 | c.812C= (p.Pro271=) | |
| MT | m.13148C>G | CA414816698 | MT-ND5 | c.812C>G (p.Pro271Arg) | |
| MT | m.13148C>T | CA414816700 | MT-ND5 | c.812C>T (p.Pro271Leu) | |
| MT | m.13149A= | CA2499567879 | MT-ND5 | c.813A= (p.Pro271=) | |
| MT | m.13149A>C | CA913170776 | MT-ND5 | c.813A>C (p.Pro271=) | |
| MT | m.13149A>G | CA913170777 | MT-ND5 | c.813A>G (p.Pro271=) | dbSNP |
| MT | m.13149A>T | CA913170778 | MT-ND5 | c.813A>T (p.Pro271=) | |
| MT | m.13150C>A | CA414816703 | MT-ND5 | c.814C>A (p.Leu272Ile) | |
| MT | m.13150C= | CA2573323397 | MT-ND5 | c.814C= (p.Leu272=) | |
| MT | m.13150C>G | CA414816704 | MT-ND5 | c.814C>G (p.Leu272Val) | |
| MT | m.13150C>T | CA913170779 | MT-ND5 | c.814C>T (p.Leu272=) | |
| MT | m.13151T>A | CA414816707 | MT-ND5 | c.815T>A (p.Leu272Gln) | |
| MT | m.13151T>C | CA414816709 | MT-ND5 | c.815T>C (p.Leu272Pro) | ClinVar dbSNP |
| MT | m.13151T>G | CA414816710 | MT-ND5 | c.815T>G (p.Leu272Arg) | |
| MT | m.13151T= | CA2499567880 | MT-ND5 | c.815T= (p.Leu272=) | |
| MT | m.13152A= | CA2499567881 | MT-ND5 | c.816A= (p.Leu272=) | |
| MT | m.13152A>C | CA913170782 | MT-ND5 | c.816A>C (p.Leu272=) | |
| MT | m.13152A>G | CA913170780 | MT-ND5 | c.816A>G (p.Leu272=) | dbSNP |
| MT | m.13152A>T | CA913170781 | MT-ND5 | c.816A>T (p.Leu272=) | dbSNP |
| MT | m.13153A= | CA2499567882 | MT-ND5 | c.817A= (p.Ile273=) | |
| MT | m.13153A>C | CA414816713 | MT-ND5 | c.817A>C (p.Ile273Leu) | |
| MT | m.13153A>G | CA337099645 | MT-ND5 | c.817A>G (p.Ile273Val) | ClinVar dbSNP |
| MT | m.13153A>T | CA414816715 | MT-ND5 | c.817A>T (p.Ile273Phe) | dbSNP |
| MT | m.13154T>A | CA414816720 | MT-ND5 | c.818T>A (p.Ile273Asn) | |
| MT | m.13154T>C | CA414816721 | MT-ND5 | c.818T>C (p.Ile273Thr) | ClinVar dbSNP |
| MT | m.13154T>G | CA414816718 | MT-ND5 | c.818T>G (p.Ile273Ser) | |
| MT | m.13154T= | CA2499567883 | MT-ND5 | c.818T= (p.Ile273=) | |
| MT | m.13155C>A | CA913170784 | MT-ND5 | c.819C>A (p.Ile273=) | dbSNP |
| MT | m.13155C= | CA2499567884 | MT-ND5 | c.819C= (p.Ile273=) | |
| MT | m.13155C>G | CA414816723 | MT-ND5 | c.819C>G (p.Ile273Met) | |
| MT | m.13155C>T | CA913170783 | MT-ND5 | c.819C>T (p.Ile273=) | |
| MT | m.13156C>A | CA414816728 | MT-ND5 | c.820C>A (p.Gln274Lys) | |
| MT | m.13156C= | CA2573323421 | MT-ND5 | c.820C= (p.Gln274=) | |
| MT | m.13156C>G | CA414816726 | MT-ND5 | c.820C>G (p.Gln274Glu) | |
| MT | m.13156C>T | CA414816729 | MT-ND5 | c.820C>T (p.Gln274Ter) | |
| MT | m.13157A= | CA2573323424 | MT-ND5 | c.821A= (p.Gln274=) | |
| MT | m.13157A>C | CA414816732 | MT-ND5 | c.821A>C (p.Gln274Pro) | |
| MT | m.13157A>G | CA414816734 | MT-ND5 | c.821A>G (p.Gln274Arg) | |
| MT | m.13157A>T | CA414816736 | MT-ND5 | c.821A>T (p.Gln274Leu) | |
| MT | m.13158A= | CA2499567885 | MT-ND5 | c.822A= (p.Gln274=) | |
| MT | m.13158A>C | CA414816738 | MT-ND5 | c.822A>C (p.Gln274His) | |
| MT | m.13158A>G | CA913170785 | MT-ND5 | c.822A>G (p.Gln274=) | dbSNP |
| MT | m.13158A>T | CA414816739 | MT-ND5 | c.822A>T (p.Gln274His) | |
| MT | m.13159A= | CA2499567886 | MT-ND5 | c.823A= (p.Thr275=) | |
| MT | m.13159A>C | CA414816742 | MT-ND5 | c.823A>C (p.Thr275Pro) | |
| MT | m.13159A>G | CA414816744 | MT-ND5 | c.823A>G (p.Thr275Ala) | ClinVar dbSNP |
| MT | m.13159A>T | CA414816745 | MT-ND5 | c.823A>T (p.Thr275Ser) | |
| MT | m.13160C>A | CA414816748 | MT-ND5 | c.824C>A (p.Thr275Asn) | |
| MT | m.13160C= | CA2573323433 | MT-ND5 | c.824C= (p.Thr275=) | |
| MT | m.13160C>G | CA414816750 | MT-ND5 | c.824C>G (p.Thr275Ser) | |
| MT | m.13160C>T | CA414816751 | MT-ND5 | c.824C>T (p.Thr275Ile) | |
| MT | m.13161T>A | CA913170786 | MT-ND5 | c.825T>A (p.Thr275=) | |
| MT | m.13161T>C | CA913170787 | MT-ND5 | c.825T>C (p.Thr275=) | dbSNP |
| MT | m.13161T>G | CA913170788 | MT-ND5 | c.825T>G (p.Thr275=) | |
| MT | m.13161T= | CA2499567887 | MT-ND5 | c.825T= (p.Thr275=) | |
| MT | m.13162C>A | CA414816753 | MT-ND5 | c.826C>A (p.Leu276Ile) | ClinVar dbSNP |
| MT | m.13162C= | CA2499567888 | MT-ND5 | c.826C= (p.Leu276=) | |
| MT | m.13162C>G | CA414816755 | MT-ND5 | c.826C>G (p.Leu276Val) | |
| MT | m.13162C>T | CA913170789 | MT-ND5 | c.826C>T (p.Leu276=) | |
| MT | m.13163T>A | CA414816761 | MT-ND5 | c.827T>A (p.Leu276Gln) | |
| MT | m.13163T>C | CA414816757 | MT-ND5 | c.827T>C (p.Leu276Pro) | |
| MT | m.13163T>G | CA414816759 | MT-ND5 | c.827T>G (p.Leu276Arg) | |
| MT | m.13163T= | CA2573323445 | MT-ND5 | c.827T= (p.Leu276=) |