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.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.12907C>A | CA414815431 | MT-ND5 | c.571C>A (p.Leu191Ile) | |
| MT | m.12907C= | CA2499567785 | MT-ND5 | c.571C= (p.Leu191=) | |
| MT | m.12907C>G | CA414815433 | MT-ND5 | c.571C>G (p.Leu191Val) | |
| MT | m.12907C>T | CA913170600 | MT-ND5 | c.571C>T (p.Leu191=) | dbSNP |
| MT | m.12908T>A | CA414815439 | MT-ND5 | c.572T>A (p.Leu191Gln) | |
| MT | m.12908T>C | CA414815437 | MT-ND5 | c.572T>C (p.Leu191Pro) | dbSNP |
| MT | m.12908T>G | CA414815435 | MT-ND5 | c.572T>G (p.Leu191Arg) | |
| MT | m.12908T= | CA2499567786 | MT-ND5 | c.572T= (p.Leu191=) | |
| MT | m.12909A= | CA2499567787 | MT-ND5 | c.573A= (p.Leu191=) | |
| MT | m.12909A>C | CA913170603 | MT-ND5 | c.573A>C (p.Leu191=) | |
| MT | m.12909A>G | CA913170601 | MT-ND5 | c.573A>G (p.Leu191=) | dbSNP |
| MT | m.12909A>T | CA913170602 | MT-ND5 | c.573A>T (p.Leu191=) | |
| MT | m.12910C>A | CA414815442 | MT-ND5 | c.574C>A (p.His192Asn) | |
| MT | m.12910C= | CA2573322151 | MT-ND5 | c.574C= (p.His192=) | |
| MT | m.12910C>G | CA414815443 | MT-ND5 | c.574C>G (p.His192Asp) | |
| MT | m.12910C>T | CA414815445 | MT-ND5 | c.574C>T (p.His192Tyr) | |
| MT | m.12911A= | CA2573322154 | MT-ND5 | c.575A= (p.His192=) | |
| MT | m.12911A>C | CA414815447 | MT-ND5 | c.575A>C (p.His192Pro) | |
| MT | m.12911A>G | CA414815449 | MT-ND5 | c.575A>G (p.His192Arg) | |
| MT | m.12911A>T | CA414815451 | MT-ND5 | c.575A>T (p.His192Leu) | |
| MT | m.12912C>A | CA414815453 | MT-ND5 | c.576C>A (p.His192Gln) | |
| MT | m.12912C= | CA2573322157 | MT-ND5 | c.576C= (p.His192=) | |
| MT | m.12912C>G | CA414815455 | MT-ND5 | c.576C>G (p.His192Gln) | |
| MT | m.12912C>T | CA913170604 | MT-ND5 | c.576C>T (p.His192=) | |
| MT | m.12913T>A | CA414815457 | MT-ND5 | c.577T>A (p.Ser193Thr) | |
| MT | m.12913T>C | CA414815459 | MT-ND5 | c.577T>C (p.Ser193Pro) | |
| MT | m.12913T>G | CA414815461 | MT-ND5 | c.577T>G (p.Ser193Ala) | |
| MT | m.12913T= | CA2573322164 | MT-ND5 | c.577T= (p.Ser193=) | |
| MT | m.12914C>A | CA414815467 | MT-ND5 | c.578C>A (p.Ser193Tyr) | |
| MT | m.12914C= | CA2499567788 | MT-ND5 | c.578C= (p.Ser193=) | |
| MT | m.12914C>G | CA414815463 | MT-ND5 | c.578C>G (p.Ser193Cys) | |
| MT | m.12914C>T | CA414815465 | MT-ND5 | c.578C>T (p.Ser193Phe) | dbSNP |
| MT | m.12915C>A | CA913170607 | MT-ND5 | c.579C>A (p.Ser193=) | |
| MT | m.12915C= | CA2499567789 | MT-ND5 | c.579C= (p.Ser193=) | |
| MT | m.12915C>G | CA913170606 | MT-ND5 | c.579C>G (p.Ser193=) | |
| MT | m.12915C>T | CA913170605 | MT-ND5 | c.579C>T (p.Ser193=) | dbSNP |
| MT | m.12916A= | CA2573322169 | MT-ND5 | c.580A= (p.Asn194=) | |
| MT | m.12916A>C | CA414815469 | MT-ND5 | c.580A>C (p.Asn194His) | |
| MT | m.12916A>G | CA414815471 | MT-ND5 | c.580A>G (p.Asn194Asp) | |
| MT | m.12916A>T | CA414815473 | MT-ND5 | c.580A>T (p.Asn194Tyr) | |
| MT | m.12917A= | CA2573322170 | MT-ND5 | c.581A= (p.Asn194=) | |
| MT | m.12917A>C | CA414815475 | MT-ND5 | c.581A>C (p.Asn194Thr) | |
| MT | m.12917A>G | CA414815477 | MT-ND5 | c.581A>G (p.Asn194Ser) | |
| MT | m.12917A>T | CA414815479 | MT-ND5 | c.581A>T (p.Asn194Ile) | |
| MT | m.12918C>A | CA414815481 | MT-ND5 | c.582C>A (p.Asn194Lys) | |
| MT | m.12918C= | CA2573322172 | MT-ND5 | c.582C= (p.Asn194=) | |
| MT | m.12918C>G | CA414815483 | MT-ND5 | c.582C>G (p.Asn194Lys) | |
| MT | m.12918C>T | CA913170608 | MT-ND5 | c.582C>T (p.Asn194=) | |
| MT | m.12919T>A | CA414815486 | MT-ND5 | c.583T>A (p.Ser195Thr) | |
| MT | m.12919T>C | CA414815488 | MT-ND5 | c.583T>C (p.Ser195Pro) | |
| MT | m.12919T>G | CA414815489 | MT-ND5 | c.583T>G (p.Ser195Ala) | |
| MT | m.12919T= | CA2573322176 | MT-ND5 | c.583T= (p.Ser195=) | |
| MT | m.12920C>A | CA414815494 | MT-ND5 | c.584C>A (p.Ser195Ter) | |
| MT | m.12920C= | CA2573322179 | MT-ND5 | c.584C= (p.Ser195=) | |
| MT | m.12920C>G | CA414815495 | MT-ND5 | c.584C>G (p.Ser195Ter) | |
| MT | m.12920C>T | CA414815492 | MT-ND5 | c.584C>T (p.Ser195Leu) | |
| MT | m.12921A= | CA2573322181 | MT-ND5 | c.585A= (p.Ser195=) | |
| MT | m.12921A>C | CA913170609 | MT-ND5 | c.585A>C (p.Ser195=) | |
| MT | m.12921A>G | CA913170610 | MT-ND5 | c.585A>G (p.Ser195=) | |
| MT | m.12921A>T | CA913170611 | MT-ND5 | c.585A>T (p.Ser195=) | |
| MT | m.12922T>A | CA414815504 | MT-ND5 | c.586T>A (p.Ter196Arg) | |
| MT | m.12922T>C | CA414815498 | MT-ND5 | c.586T>C (p.Ter196Arg) | dbSNP |
| MT | m.12922T>G | CA414815500 | MT-ND5 | c.586T>G (p.Ter196Gly) | |
| MT | m.12922T= | CA414815502 | MT-ND5 | c.586T= (p.Ter196=) | |
| MT | m.12923G>A | CA414815506 | MT-ND5 | c.587G>A (p.Ter196=) | ClinVar |
| MT | m.12923G>C | CA414815508 | MT-ND5 | c.587G>C (p.Ter196Ser) | |
| MT | m.12923G= | CA414815510 | MT-ND5 | c.587G= (p.Ter196=) | |
| MT | m.12923G>T | CA414815511 | MT-ND5 | c.587G>T (p.Ter196Leu) | ClinVar dbSNP |
| MT | m.12924A= | CA414815515 | MT-ND5 | c.588A= (p.Ter196=) | |
| MT | m.12924A>C | CA414815516 | MT-ND5 | c.588A>C (p.Ter196Cys) | |
| MT | m.12924A>G | CA414815518 | MT-ND5 | c.588A>G (p.Ter196Trp) | dbSNP |
| MT | m.12924A>T | CA414815520 | MT-ND5 | c.588A>T (p.Ter196Cys) | |
| MT | m.12925G>A | CA414815527 | MT-ND5 | c.589G>A (p.Asp197Asn) | |
| MT | m.12925G>C | CA414815525 | MT-ND5 | c.589G>C (p.Asp197His) | |
| MT | m.12925G= | CA2573322188 | MT-ND5 | c.589G= (p.Asp197=) | |
| MT | m.12925G>T | CA414815523 | MT-ND5 | c.589G>T (p.Asp197Tyr) | |
| MT | m.12926A= | CA2573322194 | MT-ND5 | c.590A= (p.Asp197=) | |
| MT | m.12926A>C | CA414815530 | MT-ND5 | c.590A>C (p.Asp197Ala) | |
| MT | m.12926A>G | CA414815532 | MT-ND5 | c.590A>G (p.Asp197Gly) | |
| MT | m.12926A>T | CA414815533 | MT-ND5 | c.590A>T (p.Asp197Val) | |
| MT | m.12927C>A | CA414815536 | MT-ND5 | c.591C>A (p.Asp197Glu) | |
| MT | m.12927C= | CA2573322196 | MT-ND5 | c.591C= (p.Asp197=) | |
| MT | m.12927C>G | CA414815538 | MT-ND5 | c.591C>G (p.Asp197Glu) | |
| MT | m.12927C>T | CA913170612 | MT-ND5 | c.591C>T (p.Asp197=) | |
| MT | m.12928C>A | CA414815541 | MT-ND5 | c.592C>A (p.Pro198Thr) | |
| MT | m.12928C= | CA2573322199 | MT-ND5 | c.592C= (p.Pro198=) | |
| MT | m.12928C>G | CA414815542 | MT-ND5 | c.592C>G (p.Pro198Ala) | |
| MT | m.12928C>T | CA414815544 | MT-ND5 | c.592C>T (p.Pro198Ser) | |
| MT | m.12929C>A | CA414815547 | MT-ND5 | c.593C>A (p.Pro198Gln) | |
| MT | m.12929C= | CA2573322206 | MT-ND5 | c.593C= (p.Pro198=) | |
| MT | m.12929C>G | CA414815548 | MT-ND5 | c.593C>G (p.Pro198Arg) | |
| MT | m.12929C>T | CA414815549 | MT-ND5 | c.593C>T (p.Pro198Leu) | |
| MT | m.12930A= | CA2499567790 | MT-ND5 | c.594A= (p.Pro198=) | |
| MT | m.12930A>C | CA913170613 | MT-ND5 | c.594A>C (p.Pro198=) | |
| MT | m.12930A>G | CA913170614 | MT-ND5 | c.594A>G (p.Pro198=) | dbSNP |
| MT | m.12930A>T | CA337099573 | MT-ND5 | c.594A>T (p.Pro198=) | dbSNP |
| MT | m.12931C>A | CA414815557 | MT-ND5 | c.595C>A (p.Gln199Lys) | |
| MT | m.12931C= | CA2573322212 | MT-ND5 | c.595C= (p.Gln199=) | |
| MT | m.12931C>G | CA414815556 | MT-ND5 | c.595C>G (p.Gln199Glu) | |
| MT | m.12931C>T | CA414815554 | MT-ND5 | c.595C>T (p.Gln199Ter) | |
| MT | m.12932A= | CA2573322214 | MT-ND5 | c.596A= (p.Gln199=) | |
| MT | m.12932A>C | CA414815560 | MT-ND5 | c.596A>C (p.Gln199Pro) | |
| MT | m.12932A>G | CA414815562 | MT-ND5 | c.596A>G (p.Gln199Arg) | |
| MT | m.12932A>T | CA414815564 | MT-ND5 | c.596A>T (p.Gln199Leu) | |
| MT | m.12933A= | CA2573322217 | MT-ND5 | c.597A= (p.Gln199=) | |
| MT | m.12933A>C | CA414815566 | MT-ND5 | c.597A>C (p.Gln199His) | |
| MT | m.12933A>G | CA913170615 | MT-ND5 | c.597A>G (p.Gln199=) | |
| MT | m.12933A>T | CA414815567 | MT-ND5 | c.597A>T (p.Gln199His) | |
| MT | m.12934C>A | CA414815571 | MT-ND5 | c.598C>A (p.Gln200Lys) | |
| MT | m.12934C= | CA2573322219 | MT-ND5 | c.598C= (p.Gln200=) | |
| MT | m.12934C>G | CA414815572 | MT-ND5 | c.598C>G (p.Gln200Glu) | |
| MT | m.12934C>T | CA414815574 | MT-ND5 | c.598C>T (p.Gln200Ter) | |
| MT | m.12935A= | CA2573322223 | MT-ND5 | c.599A= (p.Gln200=) | |
| MT | m.12935A>C | CA414815577 | MT-ND5 | c.599A>C (p.Gln200Pro) | |
| MT | m.12935A>G | CA414815578 | MT-ND5 | c.599A>G (p.Gln200Arg) | |
| MT | m.12935A>T | CA414815579 | MT-ND5 | c.599A>T (p.Gln200Leu) | |
| MT | m.12936A= | CA2573322226 | MT-ND5 | c.600A= (p.Gln200=) | |
| MT | m.12936A>C | CA414815582 | MT-ND5 | c.600A>C (p.Gln200His) | |
| MT | m.12936A>G | CA913170616 | MT-ND5 | c.600A>G (p.Gln200=) | |
| MT | m.12936A>T | CA414815584 | MT-ND5 | c.600A>T (p.Gln200His) | |
| MT | m.12937A= | CA2499567791 | MT-ND5 | c.601A= (p.Ile201=) | |
| MT | m.12937A>C | CA414815586 | MT-ND5 | c.601A>C (p.Ile201Leu) | |
| MT | m.12937A>G | CA337099575 | MT-ND5 | c.601A>G (p.Ile201Val) | ClinVar dbSNP |
| MT | m.12937A>T | CA414815588 | MT-ND5 | c.601A>T (p.Ile201Leu) | |
| MT | m.12938T>A | CA414815592 | MT-ND5 | c.602T>A (p.Ile201Lys) | |
| MT | m.12938T>C | CA414815594 | MT-ND5 | c.602T>C (p.Ile201Thr) | |
| MT | m.12938T>G | CA414815595 | MT-ND5 | c.602T>G (p.Ile201Arg) | |
| MT | m.12938T= | CA2573322233 | MT-ND5 | c.602T= (p.Ile201=) | |
| MT | m.12939A= | CA2499567792 | MT-ND5 | c.603A= (p.Ile201=) | |
| MT | m.12939A>C | CA913170618 | MT-ND5 | c.603A>C (p.Ile201=) | |
| MT | m.12939A>G | CA337099577 | MT-ND5 | c.603A>G (p.Ile201Met) | dbSNP |
| MT | m.12939A>T | CA913170617 | MT-ND5 | c.603A>T (p.Ile201=) | |
| MT | m.12940G>A | CA337099579 | MT-ND5 | c.604G>A (p.Ala202Thr) | ClinVar dbSNP COSMIC |
| MT | m.12940G>C | CA414815600 | MT-ND5 | c.604G>C (p.Ala202Pro) | |
| MT | m.12940G= | CA2499567793 | MT-ND5 | c.604G= (p.Ala202=) | |
| MT | m.12940G>T | CA414815601 | MT-ND5 | c.604G>T (p.Ala202Ser) | |
| MT | m.12941C>A | CA414815604 | MT-ND5 | c.605C>A (p.Ala202Asp) | |
| MT | m.12941C= | CA2499567794 | MT-ND5 | c.605C= (p.Ala202=) | |
| MT | m.12941C>G | CA414815605 | MT-ND5 | c.605C>G (p.Ala202Gly) | |
| MT | m.12941C>T | CA414815607 | MT-ND5 | c.605C>T (p.Ala202Val) | ClinVar dbSNP |
| MT | m.12942C>A | CA913170621 | MT-ND5 | c.606C>A (p.Ala202=) | |
| MT | m.12942C= | CA2499567795 | MT-ND5 | c.606C= (p.Ala202=) | |
| MT | m.12942C>G | CA913170620 | MT-ND5 | c.606C>G (p.Ala202=) | |
| MT | m.12942C>T | CA913170619 | MT-ND5 | c.606C>T (p.Ala202=) | dbSNP |
| MT | m.12943C>A | CA414815613 | MT-ND5 | c.607C>A (p.Leu203Ile) | |
| MT | m.12943C= | CA2573322251 | MT-ND5 | c.607C= (p.Leu203=) | |
| MT | m.12943C>G | CA414815611 | MT-ND5 | c.607C>G (p.Leu203Val) | |
| MT | m.12943C>T | CA414815610 | MT-ND5 | c.607C>T (p.Leu203Phe) | |
| MT | m.12944T>A | CA414815615 | MT-ND5 | c.608T>A (p.Leu203His) | |
| MT | m.12944T>C | CA414815619 | MT-ND5 | c.608T>C (p.Leu203Pro) | |
| MT | m.12944T>G | CA414815617 | MT-ND5 | c.608T>G (p.Leu203Arg) | |
| MT | m.12944T= | CA2573322256 | MT-ND5 | c.608T= (p.Leu203=) | |
| MT | m.12945T>A | CA913170622 | MT-ND5 | c.609T>A (p.Leu203=) | |
| MT | m.12945T>C | CA913170623 | MT-ND5 | c.609T>C (p.Leu203=) | dbSNP |
| MT | m.12945T>G | CA913170624 | MT-ND5 | c.609T>G (p.Leu203=) | |
| MT | m.12945T= | CA2499567796 | MT-ND5 | c.609T= (p.Leu203=) | |
| MT | m.12946C>A | CA414815622 | MT-ND5 | c.610C>A (p.Leu204Ile) | |
| MT | m.12946C= | CA2499567797 | MT-ND5 | c.610C= (p.Leu204=) | |
| MT | m.12946C>G | CA414815624 | MT-ND5 | c.610C>G (p.Leu204Val) | |
| MT | m.12946C>T | CA913170625 | MT-ND5 | c.610C>T (p.Leu204=) | dbSNP |
| MT | m.12947T>A | CA414815626 | MT-ND5 | c.611T>A (p.Leu204Gln) | |
| MT | m.12947T>C | CA414815630 | MT-ND5 | c.611T>C (p.Leu204Pro) | |
| MT | m.12947T>G | CA414815628 | MT-ND5 | c.611T>G (p.Leu204Arg) | |
| MT | m.12947T= | CA2573322265 | MT-ND5 | c.611T= (p.Leu204=) | |
| MT | m.12948A= | CA2499567798 | MT-ND5 | c.612A= (p.Leu204=) | |
| MT | m.12948A>C | CA913170626 | MT-ND5 | c.612A>C (p.Leu204=) | |
| MT | m.12948A>G | CA913170627 | MT-ND5 | c.612A>G (p.Leu204=) | dbSNP |
| MT | m.12948A>T | CA913170628 | MT-ND5 | c.612A>T (p.Leu204=) | |
| MT | m.12949A= | CA2573322268 | MT-ND5 | c.613A= (p.Asn205=) | |
| MT | m.12949A>C | CA414815632 | MT-ND5 | c.613A>C (p.Asn205His) | |
| MT | m.12949A>G | CA414815634 | MT-ND5 | c.613A>G (p.Asn205Asp) | |
| MT | m.12949A>T | CA414815635 | MT-ND5 | c.613A>T (p.Asn205Tyr) | |
| MT | m.12950A= | CA2499567799 | MT-ND5 | c.614A= (p.Asn205=) | |
| MT | m.12950A>C | CA337099583 | MT-ND5 | c.614A>C (p.Asn205Thr) | ClinVar dbSNP |
| MT | m.12950A>G | CA337099581 | MT-ND5 | c.614A>G (p.Asn205Ser) | ClinVar dbSNP |
| MT | m.12950A>T | CA414815639 | MT-ND5 | c.614A>T (p.Asn205Ile) | |
| MT | m.12951C>A | CA414815642 | MT-ND5 | c.615C>A (p.Asn205Lys) | |
| MT | m.12951C= | CA2573322279 | MT-ND5 | c.615C= (p.Asn205=) | |
| MT | m.12951C>G | CA414815644 | MT-ND5 | c.615C>G (p.Asn205Lys) | |
| MT | m.12951C>T | CA913170629 | MT-ND5 | c.615C>T (p.Asn205=) | dbSNP |
| MT | m.12952G>A | CA414815650 | MT-ND5 | c.616G>A (p.Ala206Thr) | ClinVar dbSNP |
| MT | m.12952G>C | CA414815648 | MT-ND5 | c.616G>C (p.Ala206Pro) | |
| MT | m.12952G= | CA2499567800 | MT-ND5 | c.616G= (p.Ala206=) | |
| MT | m.12952G>T | CA414815646 | MT-ND5 | c.616G>T (p.Ala206Ser) | |
| MT | m.12953C>A | CA414815653 | MT-ND5 | c.617C>A (p.Ala206Asp) | |
| MT | m.12953C= | CA2573322303 | MT-ND5 | c.617C= (p.Ala206=) | |
| MT | m.12953C>G | CA414815654 | MT-ND5 | c.617C>G (p.Ala206Gly) | |
| MT | m.12953C>T | CA414815656 | MT-ND5 | c.617C>T (p.Ala206Val) | |
| MT | m.12954T>A | CA913170630 | MT-ND5 | c.618T>A (p.Ala206=) | |
| MT | m.12954T>C | CA337099584 | MT-ND5 | c.618T>C (p.Ala206=) | dbSNP COSMIC |
| MT | m.12954T>G | CA913170631 | MT-ND5 | c.618T>G (p.Ala206=) | |
| MT | m.12954T= | CA2499567801 | MT-ND5 | c.618T= (p.Ala206=) | |
| MT | m.12955A= | CA2573322308 | MT-ND5 | c.619A= (p.Asn207=) | |
| MT | m.12955A>C | CA414815660 | MT-ND5 | c.619A>C (p.Asn207His) | |
| MT | m.12955A>G | CA414815662 | MT-ND5 | c.619A>G (p.Asn207Asp) | |
| MT | m.12955A>T | CA414815663 | MT-ND5 | c.619A>T (p.Asn207Tyr) | |
| MT | m.12956A= | CA2499567802 | MT-ND5 | c.620A= (p.Asn207=) | |
| MT | m.12956A>C | CA414815666 | MT-ND5 | c.620A>C (p.Asn207Thr) | |
| MT | m.12956A>G | CA414815668 | MT-ND5 | c.620A>G (p.Asn207Ser) | dbSNP |
| MT | m.12956A>T | CA414815670 | MT-ND5 | c.620A>T (p.Asn207Ile) | |
| MT | m.12957T>A | CA414815674 | MT-ND5 | c.621T>A (p.Asn207Lys) | |
| MT | m.12957T>C | CA337099586 | MT-ND5 | c.621T>C (p.Asn207=) | dbSNP COSMIC |
| MT | m.12957T>G | CA414815672 | MT-ND5 | c.621T>G (p.Asn207Lys) | |
| MT | m.12957T= | CA2499567803 | MT-ND5 | c.621T= (p.Asn207=) | |
| MT | m.12958C>A | CA414815677 | MT-ND5 | c.622C>A (p.Pro208Thr) | |
| MT | m.12958C= | CA2573322318 | MT-ND5 | c.622C= (p.Pro208=) | |
| MT | m.12958C>G | CA414815679 | MT-ND5 | c.622C>G (p.Pro208Ala) | |
| MT | m.12958C>T | CA414815680 | MT-ND5 | c.622C>T (p.Pro208Ser) | |
| MT | m.12959C>A | CA414815682 | MT-ND5 | c.623C>A (p.Pro208Gln) | |
| MT | m.12959C= | CA2573322323 | MT-ND5 | c.623C= (p.Pro208=) | |
| MT | m.12959C>G | CA414815683 | MT-ND5 | c.623C>G (p.Pro208Arg) | |
| MT | m.12959C>T | CA414815685 | MT-ND5 | c.623C>T (p.Pro208Leu) | |
| MT | m.12960A= | CA2573322325 | MT-ND5 | c.624A= (p.Pro208=) | |
| MT | m.12960A>C | CA913170634 | MT-ND5 | c.624A>C (p.Pro208=) | |
| MT | m.12960A>G | CA913170632 | MT-ND5 | c.624A>G (p.Pro208=) | |
| MT | m.12960A>T | CA913170633 | MT-ND5 | c.624A>T (p.Pro208=) | |
| MT | m.12961A= | CA2499567804 | MT-ND5 | c.625A= (p.Ser209=) | |
| MT | m.12961A>C | CA414815688 | MT-ND5 | c.625A>C (p.Ser209Arg) | |
| MT | m.12961A>G | CA337099588 | MT-ND5 | c.625A>G (p.Ser209Gly) | ClinVar dbSNP |
| MT | m.12961A>T | CA414815690 | MT-ND5 | c.625A>T (p.Ser209Cys) | |
| MT | m.12962G>A | CA414815693 | MT-ND5 | c.626G>A (p.Ser209Asn) | dbSNP |
| MT | m.12962G>C | CA414815694 | MT-ND5 | c.626G>C (p.Ser209Thr) | |
| MT | m.12962G= | CA2499567805 | MT-ND5 | c.626G= (p.Ser209=) | |
| MT | m.12962G>T | CA414815696 | MT-ND5 | c.626G>T (p.Ser209Ile) | |
| MT | m.12963C>A | CA414815699 | MT-ND5 | c.627C>A (p.Ser209Arg) | |
| MT | m.12963C= | CA2573322333 | MT-ND5 | c.627C= (p.Ser209=) | |
| MT | m.12963C>G | CA414815700 | MT-ND5 | c.627C>G (p.Ser209Arg) | |
| MT | m.12963C>T | CA913170635 | MT-ND5 | c.627C>T (p.Ser209=) | |
| MT | m.12964C>A | CA414815703 | MT-ND5 | c.628C>A (p.Leu210Ile) | |
| MT | m.12964C= | CA2573322339 | MT-ND5 | c.628C= (p.Leu210=) | |
| MT | m.12964C>G | CA414815706 | MT-ND5 | c.628C>G (p.Leu210Val) | |
| MT | m.12964C>T | CA414815707 | MT-ND5 | c.628C>T (p.Leu210Phe) | |
| MT | m.12965T>A | CA414815709 | MT-ND5 | c.629T>A (p.Leu210His) | |
| MT | m.12965T>C | CA414815711 | MT-ND5 | c.629T>C (p.Leu210Pro) | |
| MT | m.12965T>G | CA414815713 | MT-ND5 | c.629T>G (p.Leu210Arg) | |
| MT | m.12965T= | CA2573322345 | MT-ND5 | c.629T= (p.Leu210=) | |
| MT | m.12966C>A | CA913170638 | MT-ND5 | c.630C>A (p.Leu210=) | dbSNP |
| MT | m.12966C= | CA2573322348 | MT-ND5 | c.630C= (p.Leu210=) | |
| MT | m.12966C>G | CA913170637 | MT-ND5 | c.630C>G (p.Leu210=) | |
| MT | m.12966C>T | CA913170636 | MT-ND5 | c.630C>T (p.Leu210=) | |
| MT | m.12967A= | CA2499567806 | MT-ND5 | c.631A= (p.Thr211=) | |
| MT | m.12967A>C | CA414815715 | MT-ND5 | c.631A>C (p.Thr211Pro) | dbSNP |
| MT | m.12967A>G | CA414815717 | MT-ND5 | c.631A>G (p.Thr211Ala) | ClinVar dbSNP |
| MT | m.12967A>T | CA414815719 | MT-ND5 | c.631A>T (p.Thr211Ser) | |
| MT | m.12968C>A | CA414815722 | MT-ND5 | c.632C>A (p.Thr211Asn) | |
| MT | m.12968C= | CA2573322362 | MT-ND5 | c.632C= (p.Thr211=) | |
| MT | m.12968C>G | CA414815724 | MT-ND5 | c.632C>G (p.Thr211Ser) | |
| MT | m.12968C>T | CA414815726 | MT-ND5 | c.632C>T (p.Thr211Ile) | |
| MT | m.12969C>A | CA913170641 | MT-ND5 | c.633C>A (p.Thr211=) | |
| MT | m.12969C= | CA2499567807 | MT-ND5 | c.633C= (p.Thr211=) | |
| MT | m.12969C>G | CA913170640 | MT-ND5 | c.633C>G (p.Thr211=) | |
| MT | m.12969C>T | CA913170639 | MT-ND5 | c.633C>T (p.Thr211=) | dbSNP |
| MT | m.12970C>A | CA414815730 | MT-ND5 | c.634C>A (p.Pro212Thr) | |
| MT | m.12970C= | CA2573322371 | MT-ND5 | c.634C= (p.Pro212=) | |
| MT | m.12970C>G | CA414815731 | MT-ND5 | c.634C>G (p.Pro212Ala) | |
| MT | m.12970C>T | CA414815728 | MT-ND5 | c.634C>T (p.Pro212Ser) | |
| MT | m.12971C>A | CA414815737 | MT-ND5 | c.635C>A (p.Pro212Gln) | |
| MT | m.12971C= | CA2573322377 | MT-ND5 | c.635C= (p.Pro212=) | |
| MT | m.12971C>G | CA414815734 | MT-ND5 | c.635C>G (p.Pro212Arg) | |
| MT | m.12971C>T | CA414815736 | MT-ND5 | c.635C>T (p.Pro212Leu) | |
| MT | m.12972A= | CA2499567808 | MT-ND5 | c.636A= (p.Pro212=) | |
| MT | m.12972A>C | CA913170642 | MT-ND5 | c.636A>C (p.Pro212=) | |
| MT | m.12972A>G | CA337099590 | MT-ND5 | c.636A>G (p.Pro212=) | dbSNP |
| MT | m.12972A>T | CA913170643 | MT-ND5 | c.636A>T (p.Pro212=) | dbSNP |
| MT | m.12973C>A | CA414815741 | MT-ND5 | c.637C>A (p.Leu213Ile) | |
| MT | m.12973C= | CA2499567809 | MT-ND5 | c.637C= (p.Leu213=) | |
| MT | m.12973C>G | CA414815743 | MT-ND5 | c.637C>G (p.Leu213Val) | |
| MT | m.12973C>T | CA913170644 | MT-ND5 | c.637C>T (p.Leu213=) | dbSNP |
| MT | m.12974T>A | CA414815746 | MT-ND5 | c.638T>A (p.Leu213Gln) | |
| MT | m.12974T>C | CA414815747 | MT-ND5 | c.638T>C (p.Leu213Pro) | |
| MT | m.12974T>G | CA414815750 | MT-ND5 | c.638T>G (p.Leu213Arg) | |
| MT | m.12974T= | CA2573322387 | MT-ND5 | c.638T= (p.Leu213=) | |
| MT | m.12975A= | CA2499567810 | MT-ND5 | c.639A= (p.Leu213=) | |
| MT | m.12975A>C | CA913170645 | MT-ND5 | c.639A>C (p.Leu213=) | |
| MT | m.12975A>G | CA913170646 | MT-ND5 | c.639A>G (p.Leu213=) | dbSNP |
| MT | m.12975A>T | CA913170647 | MT-ND5 | c.639A>T (p.Leu213=) | |
| MT | m.12976C>A | CA414815752 | MT-ND5 | c.640C>A (p.Leu214Ile) | |
| MT | m.12976C= | CA2499567811 | MT-ND5 | c.640C= (p.Leu214=) | |
| MT | m.12976C>G | CA414815753 | MT-ND5 | c.640C>G (p.Leu214Val) | |
| MT | m.12976C>T | CA913170648 | MT-ND5 | c.640C>T (p.Leu214=) | dbSNP |
| MT | m.12977T>A | CA414815756 | MT-ND5 | c.641T>A (p.Leu214Gln) | |
| MT | m.12977T>C | CA414815758 | MT-ND5 | c.641T>C (p.Leu214Pro) | |
| MT | m.12977T>G | CA414815759 | MT-ND5 | c.641T>G (p.Leu214Arg) | |
| MT | m.12977T= | CA2573322405 | MT-ND5 | c.641T= (p.Leu214=) | |
| MT | m.12978A= | CA2499567812 | MT-ND5 | c.642A= (p.Leu214=) | |
| MT | m.12978A>C | CA913170649 | MT-ND5 | c.642A>C (p.Leu214=) | |
| MT | m.12978A>G | CA913170650 | MT-ND5 | c.642A>G (p.Leu214=) | dbSNP |
| MT | m.12978A>T | CA913170651 | MT-ND5 | c.642A>T (p.Leu214=) | |
| MT | m.12979G>A | CA414815762 | MT-ND5 | c.643G>A (p.Gly215Ser) | |
| MT | m.12979G>C | CA414815766 | MT-ND5 | c.643G>C (p.Gly215Arg) | |
| MT | m.12979G= | CA2573322416 | MT-ND5 | c.643G= (p.Gly215=) | |
| MT | m.12979G>T | CA414815764 | MT-ND5 | c.643G>T (p.Gly215Cys) | |
| MT | m.12980G>A | CA414815768 | MT-ND5 | c.644G>A (p.Gly215Asp) | |
| MT | m.12980G>C | CA414815770 | MT-ND5 | c.644G>C (p.Gly215Ala) | |
| MT | m.12980G= | CA2573322424 | MT-ND5 | c.644G= (p.Gly215=) | |
| MT | m.12980G>T | CA414815772 | MT-ND5 | c.644G>T (p.Gly215Val) | |
| MT | m.12981C>A | CA913170652 | MT-ND5 | c.645C>A (p.Gly215=) | dbSNP |
| MT | m.12981C= | CA2499567813 | MT-ND5 | c.645C= (p.Gly215=) | |
| MT | m.12981C>G | CA913170653 | MT-ND5 | c.645C>G (p.Gly215=) | dbSNP |
| MT | m.12981C>T | CA913170654 | MT-ND5 | c.645C>T (p.Gly215=) | dbSNP |
| MT | m.12982C>A | CA414815775 | MT-ND5 | c.646C>A (p.Leu216Ile) | |
| MT | m.12982C= | CA2573322439 | MT-ND5 | c.646C= (p.Leu216=) | |
| MT | m.12982C>G | CA414815776 | MT-ND5 | c.646C>G (p.Leu216Val) | |
| MT | m.12982C>T | CA414815779 | MT-ND5 | c.646C>T (p.Leu216Phe) | |
| MT | m.12983T>A | CA414815781 | MT-ND5 | c.647T>A (p.Leu216His) | |
| MT | m.12983T>C | CA414815782 | MT-ND5 | c.647T>C (p.Leu216Pro) | |
| MT | m.12983T>G | CA414815785 | MT-ND5 | c.647T>G (p.Leu216Arg) | |
| MT | m.12983T= | CA2573322444 | MT-ND5 | c.647T= (p.Leu216=) | |
| MT | m.12984C>A | CA913170655 | MT-ND5 | c.648C>A (p.Leu216=) | |
| MT | m.12984C= | CA2573322449 | MT-ND5 | c.648C= (p.Leu216=) | |
| MT | m.12984C>G | CA913170656 | MT-ND5 | c.648C>G (p.Leu216=) | |
| MT | m.12984C>T | CA913170657 | MT-ND5 | c.648C>T (p.Leu216=) | |
| MT | m.12985C>A | CA414815791 | MT-ND5 | c.649C>A (p.Leu217Ile) | |
| MT | m.12985C= | CA2573322456 | MT-ND5 | c.649C= (p.Leu217=) | |
| MT | m.12985C>G | CA414815789 | MT-ND5 | c.649C>G (p.Leu217Val) | |
| MT | m.12985C>T | CA414815787 | MT-ND5 | c.649C>T (p.Leu217Phe) | |
| MT | m.12986T>A | CA414815793 | MT-ND5 | c.650T>A (p.Leu217His) | |
| MT | m.12986T>C | CA414815795 | MT-ND5 | c.650T>C (p.Leu217Pro) | COSMIC |
| MT | m.12986T>G | CA414815797 | MT-ND5 | c.650T>G (p.Leu217Arg) | |
| MT | m.12986T= | CA2573322463 | MT-ND5 | c.650T= (p.Leu217=) | |
| MT | m.12987C>A | CA913170660 | MT-ND5 | c.651C>A (p.Leu217=) | |
| MT | m.12987C= | CA2573322469 | MT-ND5 | c.651C= (p.Leu217=) | |
| MT | m.12987C>G | CA913170658 | MT-ND5 | c.651C>G (p.Leu217=) | |
| MT | m.12987C>T | CA913170659 | MT-ND5 | c.651C>T (p.Leu217=) | |
| MT | m.12988C>A | CA414815799 | MT-ND5 | c.652C>A (p.Leu218Ile) | |
| MT | m.12988C= | CA2499567814 | MT-ND5 | c.652C= (p.Leu218=) | |
| MT | m.12988C>G | CA414815800 | MT-ND5 | c.652C>G (p.Leu218Val) | |
| MT | m.12988C>T | CA913170661 | MT-ND5 | c.652C>T (p.Leu218=) | dbSNP |
| MT | m.12989T>A | CA414815803 | MT-ND5 | c.653T>A (p.Leu218Gln) | |
| MT | m.12989T>C | CA414815805 | MT-ND5 | c.653T>C (p.Leu218Pro) | |
| MT | m.12989T>G | CA414815807 | MT-ND5 | c.653T>G (p.Leu218Arg) | |
| MT | m.12989T= | CA2573322481 | MT-ND5 | c.653T= (p.Leu218=) | |
| MT | m.12990A= | CA2573322490 | MT-ND5 | c.654A= (p.Leu218=) | |
| MT | m.12990A>C | CA913170664 | MT-ND5 | c.654A>C (p.Leu218=) | |
| MT | m.12990A>G | CA913170662 | MT-ND5 | c.654A>G (p.Leu218=) | |
| MT | m.12990A>T | CA913170663 | MT-ND5 | c.654A>T (p.Leu218=) | |
| MT | m.12998_13000del | CA2740098382 | MT-ND5 | c.662_664del (p.Ala221del) | |
| MT | m.12991G>A | CA414815809 | MT-ND5 | c.655G>A (p.Ala219Thr) | dbSNP |
| MT | m.12991G>C | CA414815811 | MT-ND5 | c.655G>C (p.Ala219Pro) | |
| MT | m.12991G= | CA2499567815 | MT-ND5 | c.655G= (p.Ala219=) | |
| MT | m.12991G>T | CA414815813 | MT-ND5 | c.655G>T (p.Ala219Ser) | |
| MT | m.12992C>A | CA414815819 | MT-ND5 | c.656C>A (p.Ala219Glu) | |
| MT | m.12992C= | CA2573322499 | MT-ND5 | c.656C= (p.Ala219=) | |
| MT | m.12992C>G | CA414815817 | MT-ND5 | c.656C>G (p.Ala219Gly) | |
| MT | m.12992C>T | CA414815815 | MT-ND5 | c.656C>T (p.Ala219Val) | |
| MT | m.12993A= | CA2499567816 | MT-ND5 | c.657A= (p.Ala219=) | |
| MT | m.12993A>C | CA913170667 | MT-ND5 | c.657A>C (p.Ala219=) | |
| MT | m.12993A>G | CA913170666 | MT-ND5 | c.657A>G (p.Ala219=) | dbSNP |
| MT | m.12993A>T | CA913170665 | MT-ND5 | c.657A>T (p.Ala219=) | |
| MT | m.12994G>A | CA414815822 | MT-ND5 | c.658G>A (p.Ala220Thr) | ClinVar dbSNP |
| MT | m.12994G>C | CA414815823 | MT-ND5 | c.658G>C (p.Ala220Pro) | |
| MT | m.12994G= | CA2499567817 | MT-ND5 | c.658G= (p.Ala220=) | |
| MT | m.12994G>T | CA414815824 | MT-ND5 | c.658G>T (p.Ala220Ser) | |
| MT | m.12995C>A | CA414815827 | MT-ND5 | c.659C>A (p.Ala220Glu) | |
| MT | m.12995C= | CA2573322529 | MT-ND5 | c.659C= (p.Ala220=) | |
| MT | m.12995C>G | CA414815829 | MT-ND5 | c.659C>G (p.Ala220Gly) | |
| MT | m.12995C>T | CA414815830 | MT-ND5 | c.659C>T (p.Ala220Val) | |
| MT | m.12996A= | CA2573322537 | MT-ND5 | c.660A= (p.Ala220=) | |
| MT | m.12996A>C | CA913170670 | MT-ND5 | c.660A>C (p.Ala220=) | |
| MT | m.12996A>G | CA913170669 | MT-ND5 | c.660A>G (p.Ala220=) | |
| MT | m.12996A>T | CA913170668 | MT-ND5 | c.660A>T (p.Ala220=) | |
| MT | m.12997G>A | CA414815833 | MT-ND5 | c.661G>A (p.Ala221Thr) | ClinVar dbSNP |
| MT | m.12997G>C | CA414815835 | MT-ND5 | c.661G>C (p.Ala221Pro) | |
| MT | m.12997G= | CA2499567818 | MT-ND5 | c.661G= (p.Ala221=) | |
| MT | m.12997G>T | CA414815836 | MT-ND5 | c.661G>T (p.Ala221Ser) | |
| MT | m.12998C>A | CA414815840 | MT-ND5 | c.662C>A (p.Ala221Glu) | |
| MT | m.12998C= | CA2573322556 | MT-ND5 | c.662C= (p.Ala221=) | |
| MT | m.12998C>G | CA414815841 | MT-ND5 | c.662C>G (p.Ala221Gly) | |
| MT | m.12998C>T | CA414815843 | MT-ND5 | c.662C>T (p.Ala221Val) | |
| MT | m.12999A= | CA2573322558 | MT-ND5 | c.663A= (p.Ala221=) | |
| MT | m.12999A>C | CA913170671 | MT-ND5 | c.663A>C (p.Ala221=) | |
| MT | m.12999A>G | CA913170672 | MT-ND5 | c.663A>G (p.Ala221=) | |
| MT | m.12999A>T | CA913170673 | MT-ND5 | c.663A>T (p.Ala221=) | |
| MT | m.13000G>A | CA414815848 | MT-ND5 | c.664G>A (p.Gly222Ser) | |
| MT | m.13000G>C | CA414815847 | MT-ND5 | c.664G>C (p.Gly222Arg) | |
| MT | m.13000G= | CA2573322564 | MT-ND5 | c.664G= (p.Gly222=) | |
| MT | m.13000G>T | CA414815846 | MT-ND5 | c.664G>T (p.Gly222Cys) | |
| MT | m.13001G>A | CA414815852 | MT-ND5 | c.665G>A (p.Gly222Asp) | |
| MT | m.13001G>C | CA414815854 | MT-ND5 | c.665G>C (p.Gly222Ala) | |
| MT | m.13001G= | CA2573322568 | MT-ND5 | c.665G= (p.Gly222=) | |
| MT | m.13001G>T | CA414815853 | MT-ND5 | c.665G>T (p.Gly222Val) | |
| MT | m.13002C>A | CA337099593 | MT-ND5 | c.666C>A (p.Gly222=) | dbSNP |
| MT | m.13002C= | CA2499567819 | MT-ND5 | c.666C= (p.Gly222=) | |
| MT | m.13002C>G | CA913170674 | MT-ND5 | c.666C>G (p.Gly222=) | |
| MT | m.13002C>T | CA913170675 | MT-ND5 | c.666C>T (p.Gly222=) | dbSNP |
| MT | m.13003A= | CA2573322576 | MT-ND5 | c.667A= (p.Lys223=) | |
| MT | m.13003A>C | CA414815859 | MT-ND5 | c.667A>C (p.Lys223Gln) | |
| MT | m.13003A>G | CA414815861 | MT-ND5 | c.667A>G (p.Lys223Glu) | |
| MT | m.13003A>T | CA414815863 | MT-ND5 | c.667A>T (p.Lys223Ter) | |
| MT | m.13004A= | CA2573322597 | MT-ND5 | c.668A= (p.Lys223=) | |
| MT | m.13004A>C | CA414815866 | MT-ND5 | c.668A>C (p.Lys223Thr) | |
| MT | m.13004A>G | CA414815867 | MT-ND5 | c.668A>G (p.Lys223Arg) | |
| MT | m.13004A>T | CA414815869 | MT-ND5 | c.668A>T (p.Lys223Ile) | |
| MT | m.13005A= | CA2573322603 | MT-ND5 | c.669A= (p.Lys223=) | |
| MT | m.13005A>C | CA414815871 | MT-ND5 | c.669A>C (p.Lys223Asn) | |
| MT | m.13005A>G | CA913170676 | MT-ND5 | c.669A>G (p.Lys223=) | dbSNP |
| MT | m.13005A>T | CA414815872 | MT-ND5 | c.669A>T (p.Lys223Asn) | |
| MT | m.13006T>A | CA414815876 | MT-ND5 | c.670T>A (p.Ser224Thr) | |
| MT | m.13006T>C | CA414815877 | MT-ND5 | c.670T>C (p.Ser224Pro) | |
| MT | m.13006T>G | CA414815879 | MT-ND5 | c.670T>G (p.Ser224Ala) | |
| MT | m.13006T= | CA2573322612 | MT-ND5 | c.670T= (p.Ser224=) | |
| MT | m.13007C>A | CA414815882 | MT-ND5 | c.671C>A (p.Ser224Ter) | |
| MT | m.13007C= | CA2573322618 | MT-ND5 | c.671C= (p.Ser224=) | |
| MT | m.13007C>G | CA414815885 | MT-ND5 | c.671C>G (p.Ser224Ter) | |
| MT | m.13007C>T | CA414815883 | MT-ND5 | c.671C>T (p.Ser224Leu) |