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.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7532dup | CA2740102074 | |||
| MT | m.7531_7532del | CA2573104870 | |||
| MT | m.7531A= | CA2573327578 | |||
| MT | m.7531A>C | CA913177316 | |||
| MT | m.7531A>G | CA913177317 | |||
| MT | m.7531A>T | CA913177318 | |||
| MT | m.7532A= | CA2573327582 | |||
| MT | m.7532A>C | CA913177319 | |||
| MT | m.7532A>G | CA913177320 | |||
| MT | m.7532A>T | CA913177321 | |||
| MT | m.7533C>A | CA913177323 | |||
| MT | m.7533C= | CA2499565216 | |||
| MT | m.7533C>G | CA913177324 | |||
| MT | m.7533C>T | CA913177322 | ClinVar dbSNP | ||
| MT | m.7534C>A | CA913177325 | |||
| MT | m.7534C= | CA2499565217 | |||
| MT | m.7534C>G | CA913177326 | |||
| MT | m.7534C>T | CA913177327 | ClinVar dbSNP | ||
| MT | m.7535A= | CA2573327593 | |||
| MT | m.7535A>C | CA913177328 | |||
| MT | m.7535A>G | CA913177329 | |||
| MT | m.7535A>T | CA913177331 | |||
| MT | m.7536T>A | CA913177333 | |||
| MT | m.7536T>C | CA913177335 | |||
| MT | m.7536T>G | CA913177334 | |||
| MT | m.7536T= | CA2573327597 | |||
| MT | m.7537T>A | CA913177337 | |||
| MT | m.7537T>C | CA913177338 | |||
| MT | m.7537T>G | CA913177336 | |||
| MT | m.7537T= | CA2573327598 | |||
| MT | m.7538T>A | CA913177341 | |||
| MT | m.7538T>C | CA913177339 | ClinVar dbSNP | ||
| MT | m.7538T>G | CA913177340 | |||
| MT | m.7538T= | CA2499565218 | |||
| MT | m.7539C>A | CA913177342 | |||
| MT | m.7539C= | CA2573327601 | |||
| MT | m.7539C>G | CA913177343 | |||
| MT | m.7539C>T | CA913177344 | |||
| MT | m.7540A= | CA2499565219 | |||
| MT | m.7540A>C | CA913177347 | |||
| MT | m.7540A>G | CA913177345 | dbSNP | ||
| MT | m.7540A>T | CA913177346 | |||
| MT | m.7541T>A | CA913177350 | |||
| MT | m.7541T>C | CA913177349 | |||
| MT | m.7541T>G | CA913177348 | |||
| MT | m.7541T= | CA2573327604 | |||
| MT | m.7542A= | CA2573327606 | |||
| MT | m.7542A>C | CA913177351 | |||
| MT | m.7542A>G | CA913177352 | |||
| MT | m.7542A>T | CA913177353 | |||
| MT | m.7543A= | CA2499565220 | |||
| MT | m.7543A>C | CA913177354 | |||
| MT | m.7543A>G | CA913177355 | ClinVar dbSNP | ||
| MT | m.7543A>T | CA913177356 | |||
| MT | m.7544C>A | CA913177359 | |||
| MT | m.7544C= | CA2573327610 | |||
| MT | m.7544C>G | CA913177358 | |||
| MT | m.7544C>T | CA913177357 | |||
| MT | m.7545T>A | CA913177363 | |||
| MT | m.7545T>C | CA913177361 | |||
| MT | m.7545T>G | CA913177360 | |||
| MT | m.7545T= | CA2573327613 | |||
| MT | m.7546T>A | CA913177367 | |||
| MT | m.7546T>C | CA913177366 | ClinVar dbSNP | ||
| MT | m.7546T>G | CA913177365 | |||
| MT | m.7546T= | CA2499565221 | |||
| MT | m.7547T>A | CA913177369 | |||
| MT | m.7547T>C | CA337097651 | ClinVar dbSNP | ||
| MT | m.7547T>G | CA913177368 | |||
| MT | m.7547T= | CA2499565222 | |||
| MT | m.7548G>A | CA913177370 | |||
| MT | m.7548G>C | CA913177371 | |||
| MT | m.7548G= | CA2573327617 | |||
| MT | m.7548G>T | CA913177372 | |||
| MT | m.7549T>A | CA913177373 | |||
| MT | m.7549T>C | CA913177374 | |||
| MT | m.7549T>G | CA913177375 | |||
| MT | m.7549T= | CA2573327619 | |||
| MT | m.7550C>A | CA913177377 | |||
| MT | m.7550C= | CA2573327621 | |||
| MT | m.7550C>G | CA913177376 | |||
| MT | m.7550C>T | CA913177380 | |||
| MT | m.7551A= | CA2573327624 | |||
| MT | m.7551A>C | CA913177383 | |||
| MT | m.7551A>G | CA913177382 | |||
| MT | m.7551A>T | CA913177381 | |||
| MT | m.7552A= | CA2499565223 | |||
| MT | m.7552A>C | CA913177384 | |||
| MT | m.7552A>G | CA913177386 | ClinVar dbSNP | ||
| MT | m.7552A>T | CA913177385 | |||
| MT | m.7553A= | CA2573327630 | |||
| MT | m.7553A>C | CA913177389 | |||
| MT | m.7553A>G | CA913177388 | |||
| MT | m.7553A>T | CA913177387 | |||
| MT | m.7554G>A | CA913177391 | ClinVar dbSNP | ||
| MT | m.7554G>C | CA913177390 | |||
| MT | m.7554G= | CA2499565224 | |||
| MT | m.7554G>T | CA913177392 | |||
| MT | m.7555T>A | CA913177393 | |||
| MT | m.7555T>C | CA913177395 | ClinVar dbSNP | ||
| MT | m.7555T>G | CA913177394 | |||
| MT | m.7555T= | CA2499565225 | |||
| MT | m.7556T>A | CA913177399 | |||
| MT | m.7556T>C | CA913177400 | |||
| MT | m.7556T>G | CA913177401 | |||
| MT | m.7556T= | CA2573327639 | |||
| MT | m.7557A= | CA2573327641 | |||
| MT | m.7557A>C | CA913177403 | |||
| MT | m.7557A>G | CA913177404 | |||
| MT | m.7557A>T | CA913177402 | |||
| MT | m.7558A= | CA2573327644 | |||
| MT | m.7558A>C | CA913177407 | |||
| MT | m.7558A>G | CA913177406 | |||
| MT | m.7558A>T | CA913177405 | |||
| MT | m.7559A= | CA2499565226 | |||
| MT | m.7559A>C | CA913177408 | |||
| MT | m.7559A>G | CA913177409 | ClinVar dbSNP | ||
| MT | m.7559A>T | CA913177410 | |||
| MT | m.7560T>A | CA913177413 | |||
| MT | m.7560T>C | CA913177412 | |||
| MT | m.7560T>G | CA913177411 | |||
| MT | m.7560T= | CA2573327650 | |||
| MT | m.7561T>A | CA913177414 | |||
| MT | m.7561T>C | CA913177416 | ClinVar dbSNP | ||
| MT | m.7561T>G | CA913177415 | |||
| MT | m.7561T= | CA2499565227 | |||
| MT | m.7562A= | CA2499565228 | |||
| MT | m.7562A>C | CA913177417 | |||
| MT | m.7562A>G | CA913177418 | ClinVar dbSNP | ||
| MT | m.7562A>T | CA913177419 | |||
| MT | m.7563T>A | CA913177422 | |||
| MT | m.7563T>C | CA913177420 | |||
| MT | m.7563T>G | CA913177421 | |||
| MT | m.7563T= | CA2573327657 | |||
| MT | m.7564A= | CA2573327660 | |||
| MT | m.7564A>C | CA913177425 | |||
| MT | m.7564A>G | CA913177424 | |||
| MT | m.7564A>T | CA913177423 | |||
| MT | m.7565G>A | CA913177428 | |||
| MT | m.7565G>C | CA913177427 | |||
| MT | m.7565G= | CA2573327662 | |||
| MT | m.7565G>T | CA913177426 | |||
| MT | m.7566G>A | CA913177431 | ClinVar dbSNP | ||
| MT | m.7566G>C | CA913177430 | |||
| MT | m.7566G= | CA2499565229 | |||
| MT | m.7566G>T | CA913177429 | |||
| MT | m.7567C>A | CA913177432 | |||
| MT | m.7567C= | CA2499565230 | |||
| MT | m.7567C>G | CA913177433 | |||
| MT | m.7567C>T | CA913177434 | ClinVar dbSNP | ||
| MT | m.7568T>A | CA913177439 | |||
| MT | m.7568T>C | CA913177438 | ClinVar dbSNP | ||
| MT | m.7568T>G | CA913177436 | |||
| MT | m.7568T= | CA2499565231 | |||
| MT | m.7568dup | CA915952045 | ClinVar dbSNP | ||
| MT | m.7569A= | CA2499565232 | |||
| MT | m.7569A>C | CA913177442 | |||
| MT | m.7569A>G | CA913177440 | ClinVar dbSNP | ||
| MT | m.7569A>T | CA913177441 | |||
| MT | m.7571del | CA2573104871 | |||
| MT | m.7570A= | CA2499565233 | |||
| MT | m.7570A>C | CA913177443 | |||
| MT | m.7570A>G | CA913177445 | ClinVar dbSNP | ||
| MT | m.7570A>T | CA913177444 | |||
| MT | m.7571A= | CA2573327673 | |||
| MT | m.7571A>C | CA913177448 | |||
| MT | m.7571A>G | CA913177447 | |||
| MT | m.7571A>T | CA913177446 | |||
| MT | m.7572T>A | CA913177450 | |||
| MT | m.7572T>C | CA913177451 | ClinVar dbSNP | ||
| MT | m.7572T>G | CA913177449 | |||
| MT | m.7572T= | CA2499565234 | |||
| MT | m.7573C>A | CA913177454 | |||
| MT | m.7573C= | CA2573327675 | |||
| MT | m.7573C>G | CA913177453 | |||
| MT | m.7573C>T | CA913177452 | |||
| MT | m.7574C>A | CA913177458 | |||
| MT | m.7574C= | CA2573327676 | |||
| MT | m.7574C>G | CA913177456 | |||
| MT | m.7574C>T | CA913177455 | |||
| MT | m.7575T>A | CA913177461 | |||
| MT | m.7575T>C | CA913177460 | |||
| MT | m.7575T>G | CA913177459 | |||
| MT | m.7575T= | CA2573327680 | |||
| MT | m.7576A= | CA2499565235 | |||
| MT | m.7576A>C | CA913177466 | |||
| MT | m.7576A>G | CA913177464 | ClinVar dbSNP | ||
| MT | m.7576A>T | CA913177462 | |||
| MT | m.7577T>A | CA913177469 | |||
| MT | m.7577T>C | CA913177468 | ClinVar dbSNP | ||
| MT | m.7577T>G | CA913177467 | |||
| MT | m.7577T= | CA2499565236 | |||
| MT | m.7578A= | CA2573327685 | |||
| MT | m.7578A>C | CA913177472 | |||
| MT | m.7578A>G | CA913177471 | |||
| MT | m.7578A>T | CA913177470 | |||
| MT | m.7579T>A | CA913177475 | |||
| MT | m.7579T>C | CA913177474 | dbSNP | ||
| MT | m.7579T>G | CA913177473 | |||
| MT | m.7579T= | CA2573327687 | |||
| MT | m.7580A= | CA2573327689 | |||
| MT | m.7580A>C | CA913177477 | |||
| MT | m.7580A>G | CA913177478 | |||
| MT | m.7580A>T | CA913177476 | |||
| MT | m.7581T>A | CA913177480 | |||
| MT | m.7581T>C | CA337097653 | ClinVar dbSNP | ||
| MT | m.7581T>G | CA913177479 | |||
| MT | m.7581T= | CA2499565237 | |||
| MT | m.7582C>A | CA913177484 | |||
| MT | m.7582C= | CA2499565238 | |||
| MT | m.7582C>G | CA913177482 | |||
| MT | m.7582C>T | CA913177481 | ClinVar dbSNP | ||
| MT | m.7583T>A | CA913177487 | |||
| MT | m.7583T>C | CA913177486 | |||
| MT | m.7583T>G | CA913177485 | |||
| MT | m.7583T= | CA2573327696 | |||
| MT | m.7584T>A | CA913177488 | |||
| MT | m.7584T>C | CA913177489 | |||
| MT | m.7584T>G | CA913177490 | |||
| MT | m.7584T= | CA2573327699 | |||
| MT | m.7585A= | CA2499565239 | |||
| MT | m.7585A>C | CA913177492 | |||
| MT | m.7585A>G | CA913177493 | ClinVar dbSNP | ||
| MT | m.7585A>T | CA913177494 | |||
| MT | m.7585_7586insT | CA2573104872 | MT-CO2 | c.1-1_1insT (n.1-1_1insT) | |
| MT | m.7586A= | CA2573327706 | MT-CO2 | c.1A= (p.Met1=) | |
| MT | m.7586A>C | CA414792869 | MT-CO2 | c.1A>C (p.Met1Leu) | |
| MT | m.7586A>G | CA414792871 | MT-CO2 | c.1A>G (p.Met1Val) | |
| MT | m.7586A>T | CA414792872 | MT-CO2 | c.1A>T (p.Met1Leu) | |
| MT | m.7587T>A | CA414792877 | MT-CO2 | c.2T>A (p.Met1Lys) | |
| MT | m.7587T>C | CA120604 | MT-CO2 | c.2T>C (p.Met1Thr) | ClinVar dbSNP |
| MT | m.7587T>G | CA414792875 | MT-CO2 | c.2T>G (p.Met1Arg) | |
| MT | m.7587T= | CA2499565240 | MT-CO2 | c.2T= (p.Met1=) | |
| MT | m.7588G>A | CA414792880 | MT-CO2 | c.3G>A (p.Met1Ile) | dbSNP |
| MT | m.7588G>C | CA414792882 | MT-CO2 | c.3G>C (p.Met1Ile) | |
| MT | m.7588G= | CA2499565241 | MT-CO2 | c.3G= (p.Met1=) | |
| MT | m.7588G>T | CA414792883 | MT-CO2 | c.3G>T (p.Met1Ile) | |
| MT | m.7589G>A | CA414792886 | MT-CO2 | c.4G>A (p.Ala2Thr) | |
| MT | m.7589G>C | CA414792887 | MT-CO2 | c.4G>C (p.Ala2Pro) | |
| MT | m.7589G= | CA2573327709 | MT-CO2 | c.4G= (p.Ala2=) | |
| MT | m.7589G>T | CA414792889 | MT-CO2 | c.4G>T (p.Ala2Ser) | |
| MT | m.7590C>A | CA414792891 | MT-CO2 | c.5C>A (p.Ala2Glu) | |
| MT | m.7590C= | CA2573327710 | MT-CO2 | c.5C= (p.Ala2=) | |
| MT | m.7590C>G | CA414792893 | MT-CO2 | c.5C>G (p.Ala2Gly) | |
| MT | m.7590C>T | CA414792895 | MT-CO2 | c.5C>T (p.Ala2Val) | |
| MT | m.7591A= | CA2573327711 | MT-CO2 | c.6A= (p.Ala2=) | |
| MT | m.7591A>C | CA913177501 | MT-CO2 | c.6A>C (p.Ala2=) | |
| MT | m.7591A>G | CA913177500 | MT-CO2 | c.6A>G (p.Ala2=) | |
| MT | m.7591A>T | CA913177499 | MT-CO2 | c.6A>T (p.Ala2=) | |
| MT | m.7592C>A | CA414792896 | MT-CO2 | c.7C>A (p.His3Asn) | |
| MT | m.7592C= | CA2573327712 | MT-CO2 | c.7C= (p.His3=) | |
| MT | m.7592C>G | CA414792898 | MT-CO2 | c.7C>G (p.His3Asp) | |
| MT | m.7592C>T | CA414792900 | MT-CO2 | c.7C>T (p.His3Tyr) | |
| MT | m.7593A= | CA2573327714 | MT-CO2 | c.8A= (p.His3=) | |
| MT | m.7593A>C | CA414792906 | MT-CO2 | c.8A>C (p.His3Pro) | |
| MT | m.7593A>G | CA414792902 | MT-CO2 | c.8A>G (p.His3Arg) | |
| MT | m.7593A>T | CA414792904 | MT-CO2 | c.8A>T (p.His3Leu) | |
| MT | m.7594T>A | CA414792907 | MT-CO2 | c.9T>A (p.His3Gln) | |
| MT | m.7594T>C | CA913177502 | MT-CO2 | c.9T>C (p.His3=) | dbSNP |
| MT | m.7594T>G | CA414792909 | MT-CO2 | c.9T>G (p.His3Gln) | |
| MT | m.7594T= | CA2499565242 | MT-CO2 | c.9T= (p.His3=) | |
| MT | m.7595G>A | CA414792911 | MT-CO2 | c.10G>A (p.Ala4Thr) | |
| MT | m.7595G>C | CA414792913 | MT-CO2 | c.10G>C (p.Ala4Pro) | |
| MT | m.7595G= | CA2573327717 | MT-CO2 | c.10G= (p.Ala4=) | |
| MT | m.7595G>T | CA414792914 | MT-CO2 | c.10G>T (p.Ala4Ser) | |
| MT | m.7596C>A | CA414792917 | MT-CO2 | c.11C>A (p.Ala4Glu) | |
| MT | m.7596C= | CA2573327719 | MT-CO2 | c.11C= (p.Ala4=) | |
| MT | m.7596C>G | CA414792919 | MT-CO2 | c.11C>G (p.Ala4Gly) | |
| MT | m.7596C>T | CA414792920 | MT-CO2 | c.11C>T (p.Ala4Val) | |
| MT | m.7597A= | CA2513149120 | MT-CO2 | c.12A= (p.Ala4=) | |
| MT | m.7597A>C | CA913177504 | MT-CO2 | c.12A>C (p.Ala4=) | |
| MT | m.7597A>G | CA913177506 | MT-CO2 | c.12A>G (p.Ala4=) | |
| MT | m.7597A>T | CA913177505 | MT-CO2 | c.12A>T (p.Ala4=) | |
| MT | m.7598G>A | CA337097656 | MT-CO2 | c.13G>A (p.Ala5Thr) | ClinVar dbSNP |
| MT | m.7598G>C | CA337097658 | MT-CO2 | c.13G>C (p.Ala5Pro) | |
| MT | m.7598G= | CA2499565243 | MT-CO2 | c.13G= (p.Ala5=) | |
| MT | m.7598G>T | CA337097660 | MT-CO2 | c.13G>T (p.Ala5Ser) | |
| MT | m.7599C>A | CA414792929 | MT-CO2 | c.14C>A (p.Ala5Glu) | |
| MT | m.7599C= | CA2573327723 | MT-CO2 | c.14C= (p.Ala5=) | |
| MT | m.7599C>G | CA414792928 | MT-CO2 | c.14C>G (p.Ala5Gly) | |
| MT | m.7599C>T | CA414792926 | MT-CO2 | c.14C>T (p.Ala5Val) | |
| MT | m.7600G>A | CA913177510 | MT-CO2 | c.15G>A (p.Ala5=) | dbSNP |
| MT | m.7600G>C | CA337097662 | MT-CO2 | c.15G>C (p.Ala5=) | |
| MT | m.7600G= | CA2499565244 | MT-CO2 | c.15G= (p.Ala5=) | |
| MT | m.7600G>T | CA337097664 | MT-CO2 | c.15G>T (p.Ala5=) | |
| MT | m.7601C>A | CA414792933 | MT-CO2 | c.16C>A (p.Gln6Lys) | |
| MT | m.7601C= | CA2573327727 | MT-CO2 | c.16C= (p.Gln6=) | |
| MT | m.7601C>G | CA414792935 | MT-CO2 | c.16C>G (p.Gln6Glu) | |
| MT | m.7601C>T | CA414792937 | MT-CO2 | c.16C>T (p.Gln6Ter) | |
| MT | m.7602A= | CA2573327729 | MT-CO2 | c.17A= (p.Gln6=) | |
| MT | m.7602A>C | CA414792939 | MT-CO2 | c.17A>C (p.Gln6Pro) | |
| MT | m.7602A>G | CA414792941 | MT-CO2 | c.17A>G (p.Gln6Arg) | |
| MT | m.7602A>T | CA414792943 | MT-CO2 | c.17A>T (p.Gln6Leu) | |
| MT | m.7603A= | CA2573327730 | MT-CO2 | c.18A= (p.Gln6=) | |
| MT | m.7603A>C | CA414792945 | MT-CO2 | c.18A>C (p.Gln6His) | |
| MT | m.7603A>G | CA913177517 | MT-CO2 | c.18A>G (p.Gln6=) | |
| MT | m.7603A>T | CA414792946 | MT-CO2 | c.18A>T (p.Gln6His) | |
| MT | m.7604G>A | CA414792950 | MT-CO2 | c.19G>A (p.Val7Ile) | ClinVar dbSNP |
| MT | m.7604G>C | CA414792951 | MT-CO2 | c.19G>C (p.Val7Leu) | |
| MT | m.7604G= | CA2499565245 | MT-CO2 | c.19G= (p.Val7=) | |
| MT | m.7604G>T | CA414792953 | MT-CO2 | c.19G>T (p.Val7Leu) | |
| MT | m.7605T>A | CA414792959 | MT-CO2 | c.20T>A (p.Val7Glu) | |
| MT | m.7605T>C | CA414792957 | MT-CO2 | c.20T>C (p.Val7Ala) | dbSNP |
| MT | m.7605T>G | CA414792955 | MT-CO2 | c.20T>G (p.Val7Gly) | |
| MT | m.7605T= | CA2573327734 | MT-CO2 | c.20T= (p.Val7=) | |
| MT | m.7606A= | CA2499565246 | MT-CO2 | c.21A= (p.Val7=) | |
| MT | m.7606A>C | CA913177530 | MT-CO2 | c.21A>C (p.Val7=) | |
| MT | m.7606A>G | CA913177531 | MT-CO2 | c.21A>G (p.Val7=) | ClinVar dbSNP |
| MT | m.7606A>T | CA913177532 | MT-CO2 | c.21A>T (p.Val7=) | |
| MT | m.7607G>A | CA414792960 | MT-CO2 | c.22G>A (p.Gly8Ser) | dbSNP |
| MT | m.7607G>C | CA414792962 | MT-CO2 | c.22G>C (p.Gly8Arg) | |
| MT | m.7607G= | CA2499565247 | MT-CO2 | c.22G= (p.Gly8=) | |
| MT | m.7607G>T | CA414792964 | MT-CO2 | c.22G>T (p.Gly8Cys) | |
| MT | m.7608G>A | CA414792966 | MT-CO2 | c.23G>A (p.Gly8Asp) | ClinVar dbSNP |
| MT | m.7608G>C | CA414792967 | MT-CO2 | c.23G>C (p.Gly8Ala) | |
| MT | m.7608G= | CA2499565248 | MT-CO2 | c.23G= (p.Gly8=) | |
| MT | m.7608G>T | CA414792969 | MT-CO2 | c.23G>T (p.Gly8Val) | |
| MT | m.7609T>A | CA913177538 | MT-CO2 | c.24T>A (p.Gly8=) | |
| MT | m.7609T>C | CA645611388 | MT-CO2 | c.24T>C (p.Gly8=) | dbSNP COSMIC |
| MT | m.7609T>G | CA913177539 | MT-CO2 | c.24T>G (p.Gly8=) | |
| MT | m.7609T= | CA2499565249 | MT-CO2 | c.24T= (p.Gly8=) | |
| MT | m.7610C>A | CA414792971 | MT-CO2 | c.25C>A (p.Leu9Ile) | |
| MT | m.7610C= | CA2499565250 | MT-CO2 | c.25C= (p.Leu9=) | |
| MT | m.7610C>G | CA414792972 | MT-CO2 | c.25C>G (p.Leu9Val) | |
| MT | m.7610C>T | CA913177541 | MT-CO2 | c.25C>T (p.Leu9=) | dbSNP |
| MT | m.7611T>A | CA414792975 | MT-CO2 | c.26T>A (p.Leu9Gln) | |
| MT | m.7611T>C | CA414792977 | MT-CO2 | c.26T>C (p.Leu9Pro) | |
| MT | m.7611T>G | CA414792978 | MT-CO2 | c.26T>G (p.Leu9Arg) | |
| MT | m.7611T= | CA2573327743 | MT-CO2 | c.26T= (p.Leu9=) | |
| MT | m.7612A= | CA2499565251 | MT-CO2 | c.27A= (p.Leu9=) | |
| MT | m.7612A>C | CA913177561 | MT-CO2 | c.27A>C (p.Leu9=) | |
| MT | m.7612A>G | CA913177562 | MT-CO2 | c.27A>G (p.Leu9=) | dbSNP |
| MT | m.7612A>T | CA913177563 | MT-CO2 | c.27A>T (p.Leu9=) | dbSNP |
| MT | m.7613C>A | CA414792980 | MT-CO2 | c.28C>A (p.Gln10Lys) | |
| MT | m.7613C= | CA2573327744 | MT-CO2 | c.28C= (p.Gln10=) | |
| MT | m.7613C>G | CA414792982 | MT-CO2 | c.28C>G (p.Gln10Glu) | |
| MT | m.7613C>T | CA414792984 | MT-CO2 | c.28C>T (p.Gln10Ter) | |
| MT | m.7614A= | CA2573327747 | MT-CO2 | c.29A= (p.Gln10=) | |
| MT | m.7614A>C | CA414792988 | MT-CO2 | c.29A>C (p.Gln10Pro) | |
| MT | m.7614A>G | CA414792990 | MT-CO2 | c.29A>G (p.Gln10Arg) | |
| MT | m.7614A>T | CA414792985 | MT-CO2 | c.29A>T (p.Gln10Leu) | |
| MT | m.7615A= | CA2573327750 | MT-CO2 | c.30A= (p.Gln10=) | |
| MT | m.7615A>C | CA414792991 | MT-CO2 | c.30A>C (p.Gln10His) | |
| MT | m.7615A>G | CA913177570 | MT-CO2 | c.30A>G (p.Gln10=) | |
| MT | m.7615A>T | CA414792994 | MT-CO2 | c.30A>T (p.Gln10His) | |
| MT | m.7616G>A | CA414792996 | MT-CO2 | c.31G>A (p.Asp11Asn) | |
| MT | m.7616G>C | CA414792997 | MT-CO2 | c.31G>C (p.Asp11His) | |
| MT | m.7616G= | CA2573327754 | MT-CO2 | c.31G= (p.Asp11=) | |
| MT | m.7616G>T | CA414792999 | MT-CO2 | c.31G>T (p.Asp11Tyr) | |
| MT | m.7617A= | CA2573327755 | MT-CO2 | c.32A= (p.Asp11=) | |
| MT | m.7617A>C | CA414793002 | MT-CO2 | c.32A>C (p.Asp11Ala) | |
| MT | m.7617A>G | CA414793004 | MT-CO2 | c.32A>G (p.Asp11Gly) | |
| MT | m.7617A>T | CA414793006 | MT-CO2 | c.32A>T (p.Asp11Val) | |
| MT | m.7618C>A | CA414793008 | MT-CO2 | c.33C>A (p.Asp11Glu) | |
| MT | m.7618C= | CA2499565252 | MT-CO2 | c.33C= (p.Asp11=) | |
| MT | m.7618C>G | CA414793010 | MT-CO2 | c.33C>G (p.Asp11Glu) | |
| MT | m.7618C>T | CA913177573 | MT-CO2 | c.33C>T (p.Asp11=) | dbSNP |
| MT | m.7619G>A | CA414793012 | MT-CO2 | c.34G>A (p.Ala12Thr) | |
| MT | m.7619G>C | CA414793013 | MT-CO2 | c.34G>C (p.Ala12Pro) | |
| MT | m.7619G= | CA2573327758 | MT-CO2 | c.34G= (p.Ala12=) | |
| MT | m.7619G>T | CA414793015 | MT-CO2 | c.34G>T (p.Ala12Ser) | |
| MT | m.7620C>A | CA414793018 | MT-CO2 | c.35C>A (p.Ala12Asp) | |
| MT | m.7620C= | CA2513111026 | MT-CO2 | c.35C= (p.Ala12=) | |
| MT | m.7620C>G | CA414793021 | MT-CO2 | c.35C>G (p.Ala12Gly) | |
| MT | m.7620C>T | CA414793019 | MT-CO2 | c.35C>T (p.Ala12Val) | |
| MT | m.7621T>A | CA913177576 | MT-CO2 | c.36T>A (p.Ala12=) | |
| MT | m.7621T>C | CA913177577 | MT-CO2 | c.36T>C (p.Ala12=) | dbSNP |
| MT | m.7621T>G | CA913177578 | MT-CO2 | c.36T>G (p.Ala12=) | |
| MT | m.7621T= | CA2499565253 | MT-CO2 | c.36T= (p.Ala12=) | |
| MT | m.7622del | CA2740098141 | MT-CO2 | c.37del (p.Thr13LeufsTer5) | |
| MT | m.7622A= | CA2573327762 | MT-CO2 | c.37A= (p.Thr13=) | |
| MT | m.7622A>C | CA414793024 | MT-CO2 | c.37A>C (p.Thr13Pro) | |
| MT | m.7622A>G | CA414793025 | MT-CO2 | c.37A>G (p.Thr13Ala) | |
| MT | m.7622A>T | CA414793027 | MT-CO2 | c.37A>T (p.Thr13Ser) | |
| MT | m.7623C>A | CA414793029 | MT-CO2 | c.38C>A (p.Thr13Asn) | |
| MT | m.7623C= | CA2573327764 | MT-CO2 | c.38C= (p.Thr13=) | |
| MT | m.7623C>G | CA414793031 | MT-CO2 | c.38C>G (p.Thr13Ser) | |
| MT | m.7623C>T | CA414793032 | MT-CO2 | c.38C>T (p.Thr13Ile) | ClinVar dbSNP |
| MT | m.7624T>A | CA337097666 | MT-CO2 | c.39T>A (p.Thr13=) | ClinVar dbSNP |
| MT | m.7624T>C | CA913177587 | MT-CO2 | c.39T>C (p.Thr13=) | dbSNP |
| MT | m.7624T>G | CA913177588 | MT-CO2 | c.39T>G (p.Thr13=) | |
| MT | m.7624T= | CA2499565254 | MT-CO2 | c.39T= (p.Thr13=) | |
| MT | m.7625T>A | CA414793035 | MT-CO2 | c.40T>A (p.Ser14Thr) | |
| MT | m.7625T>C | CA414793036 | MT-CO2 | c.40T>C (p.Ser14Pro) | |
| MT | m.7625T>G | CA414793038 | MT-CO2 | c.40T>G (p.Ser14Ala) | |
| MT | m.7625T= | CA2573327771 | MT-CO2 | c.40T= (p.Ser14=) | |
| MT | m.7626C>A | CA414793041 | MT-CO2 | c.41C>A (p.Ser14Tyr) | |
| MT | m.7626C= | CA2573327775 | MT-CO2 | c.41C= (p.Ser14=) | |
| MT | m.7626C>G | CA414793044 | MT-CO2 | c.41C>G (p.Ser14Cys) | |
| MT | m.7626C>T | CA414793042 | MT-CO2 | c.41C>T (p.Ser14Phe) | |
| MT | m.7627C>A | CA913177590 | MT-CO2 | c.42C>A (p.Ser14=) | |
| MT | m.7627C= | CA2499565255 | MT-CO2 | c.42C= (p.Ser14=) | |
| MT | m.7627C>G | CA913177592 | MT-CO2 | c.42C>G (p.Ser14=) | |
| MT | m.7627C>T | CA913177593 | MT-CO2 | c.42C>T (p.Ser14=) | dbSNP |
| MT | m.7628C>A | CA414793046 | MT-CO2 | c.43C>A (p.Pro15Thr) | ClinVar dbSNP |
| MT | m.7628C= | CA2499565256 | MT-CO2 | c.43C= (p.Pro15=) | |
| MT | m.7628C>G | CA414793050 | MT-CO2 | c.43C>G (p.Pro15Ala) | |
| MT | m.7628C>T | CA414793048 | MT-CO2 | c.43C>T (p.Pro15Ser) | |
| MT | m.7629C>A | CA414793052 | MT-CO2 | c.44C>A (p.Pro15His) | |
| MT | m.7629C= | CA2573327782 | MT-CO2 | c.44C= (p.Pro15=) | |
| MT | m.7629C>G | CA414793053 | MT-CO2 | c.44C>G (p.Pro15Arg) | |
| MT | m.7629C>T | CA414793055 | MT-CO2 | c.44C>T (p.Pro15Leu) | |
| MT | m.7630del | CA2573104873 | MT-CO2 | c.45del (p.Ile16SerfsTer2) | |
| MT | m.7630T>A | CA913177602 | MT-CO2 | c.45T>A (p.Pro15=) | |
| MT | m.7630T>C | CA913177603 | MT-CO2 | c.45T>C (p.Pro15=) | dbSNP |
| MT | m.7630T>G | CA913177604 | MT-CO2 | c.45T>G (p.Pro15=) | |
| MT | m.7630T= | CA2499565257 | MT-CO2 | c.45T= (p.Pro15=) | |
| MT | m.7631A= | CA2573327788 | MT-CO2 | c.46A= (p.Ile16=) | |
| MT | m.7631A>C | CA414793057 | MT-CO2 | c.46A>C (p.Ile16Leu) | |
| MT | m.7631A>G | CA414793059 | MT-CO2 | c.46A>G (p.Ile16Val) | |
| MT | m.7631A>T | CA414793060 | MT-CO2 | c.46A>T (p.Ile16Phe) |