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.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | 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.10456A= | CA2499566755 | |||
| MT | m.10456A>C | CA913163343 | |||
| MT | m.10456A>G | CA913163346 | ClinVar dbSNP | ||
| MT | m.10456A>T | CA913163348 | |||
| MT | m.10458_10460del | CA2573105062 | |||
| MT | m.10457T>A | CA913163350 | |||
| MT | m.10457T>C | CA913163351 | ClinVar dbSNP | ||
| MT | m.10457T>G | CA913163354 | |||
| MT | m.10457T= | CA2499566756 | |||
| MT | m.10458C>A | CA913163355 | |||
| MT | m.10458C= | CA2573326053 | |||
| MT | m.10458C>G | CA913163363 | |||
| MT | m.10458C>T | CA913163365 | |||
| MT | m.10459A= | CA2573326055 | |||
| MT | m.10459A>C | CA913163369 | |||
| MT | m.10459A>G | CA913163374 | |||
| MT | m.10459A>T | CA913163372 | |||
| MT | m.10460T>A | CA913163376 | |||
| MT | m.10460T>C | CA913163377 | ClinVar dbSNP | ||
| MT | m.10460T>G | CA913163378 | |||
| MT | m.10460T= | CA2499566757 | |||
| MT | m.10461A= | CA2573326063 | |||
| MT | m.10461A>C | CA913163379 | |||
| MT | m.10461A>G | CA913163381 | dbSNP | ||
| MT | m.10461A>T | CA913163385 | |||
| MT | m.10462T>A | CA913163387 | |||
| MT | m.10462T>C | CA913163402 | ClinVar dbSNP | ||
| MT | m.10462T>G | CA913163403 | |||
| MT | m.10462T= | CA2499566758 | |||
| MT | m.10463T>A | CA913163404 | dbSNP | ||
| MT | m.10463T>C | CA337098849 | ClinVar dbSNP | ||
| MT | m.10463T>G | CA913163405 | |||
| MT | m.10463T= | CA2499566759 | |||
| MT | m.10464T>A | CA913163407 | |||
| MT | m.10464T>C | CA913163409 | dbSNP | ||
| MT | m.10464T>G | CA913163410 | |||
| MT | m.10464T= | CA2499566760 | |||
| MT | m.10465A= | CA2573326071 | |||
| MT | m.10465A>C | CA913163413 | |||
| MT | m.10465A>G | CA913163415 | |||
| MT | m.10465A>T | CA913163416 | |||
| MT | m.10466C>A | CA913163418 | |||
| MT | m.10466C= | CA2573326072 | |||
| MT | m.10466C>G | CA913163420 | |||
| MT | m.10466C>T | CA913163422 | |||
| MT | m.10467C>A | CA913163429 | |||
| MT | m.10467C= | CA2573326076 | |||
| MT | m.10467C>G | CA913163428 | |||
| MT | m.10467C>T | CA913163426 | |||
| MT | m.10468A= | CA2573326077 | |||
| MT | m.10468A>C | CA913163430 | |||
| MT | m.10468A>G | CA913163431 | |||
| MT | m.10468A>T | CA913163435 | |||
| MT | m.10469A= | CA2499566761 | |||
| MT | m.10469A>C | CA913163436 | |||
| MT | m.10469A>G | CA913163437 | dbSNP | ||
| MT | m.10469A>T | CA913163438 | |||
| MT | m.10470A= | CA2573326083 | MT-ND4L | c.1A= (p.Met1=) | |
| MT | m.10470A>C | CA414805443 | MT-ND4L | c.1A>C (p.Met1Leu) | |
| MT | m.10470A>G | CA414805445 | MT-ND4L | c.1A>G (p.Met1Val) | |
| MT | m.10470A>T | CA414805447 | MT-ND4L | c.1A>T (p.Met1Leu) | |
| MT | m.10471T>A | CA414805450 | MT-ND4L | c.2T>A (p.Met1Lys) | |
| MT | m.10471T>C | CA414805451 | MT-ND4L | c.2T>C (p.Met1Thr) | |
| MT | m.10471T>G | CA414805453 | MT-ND4L | c.2T>G (p.Met1Arg) | |
| MT | m.10471T= | CA2573326085 | MT-ND4L | c.2T= (p.Met1=) | |
| MT | m.10472G>A | CA414805456 | MT-ND4L | c.3G>A (p.Met1Ile) | |
| MT | m.10472G>C | CA414805458 | MT-ND4L | c.3G>C (p.Met1Ile) | |
| MT | m.10472G= | CA2573326088 | MT-ND4L | c.3G= (p.Met1=) | |
| MT | m.10472G>T | CA414805460 | MT-ND4L | c.3G>T (p.Met1Ile) | |
| MT | m.10473C>A | CA414805462 | MT-ND4L | c.4C>A (p.Pro2Thr) | |
| MT | m.10473C= | CA2499566762 | MT-ND4L | c.4C= (p.Pro2=) | |
| MT | m.10473C>G | CA414805464 | MT-ND4L | c.4C>G (p.Pro2Ala) | |
| MT | m.10473C>T | CA414805465 | MT-ND4L | c.4C>T (p.Pro2Ser) | dbSNP |
| MT | m.10474C>A | CA414805472 | MT-ND4L | c.5C>A (p.Pro2His) | |
| MT | m.10474C= | CA2573326092 | MT-ND4L | c.5C= (p.Pro2=) | |
| MT | m.10474C>G | CA414805470 | MT-ND4L | c.5C>G (p.Pro2Arg) | |
| MT | m.10474C>T | CA414805469 | MT-ND4L | c.5C>T (p.Pro2Leu) | |
| MT | m.10475C>A | CA913163455 | MT-ND4L | c.6C>A (p.Pro2=) | |
| MT | m.10475C= | CA2499566763 | MT-ND4L | c.6C= (p.Pro2=) | |
| MT | m.10475C>G | CA913163451 | MT-ND4L | c.6C>G (p.Pro2=) | |
| MT | m.10475C>T | CA913163453 | MT-ND4L | c.6C>T (p.Pro2=) | dbSNP |
| MT | m.10476C>A | CA414805476 | MT-ND4L | c.7C>A (p.Leu3Ile) | |
| MT | m.10476C= | CA2573326097 | MT-ND4L | c.7C= (p.Leu3=) | |
| MT | m.10476C>G | CA414805475 | MT-ND4L | c.7C>G (p.Leu3Val) | |
| MT | m.10476C>T | CA414805477 | MT-ND4L | c.7C>T (p.Leu3Phe) | |
| MT | m.10477T>A | CA414805481 | MT-ND4L | c.8T>A (p.Leu3His) | |
| MT | m.10477T>C | CA414805482 | MT-ND4L | c.8T>C (p.Leu3Pro) | |
| MT | m.10477T>G | CA414805484 | MT-ND4L | c.8T>G (p.Leu3Arg) | |
| MT | m.10477T= | CA2513647363 | MT-ND4L | c.8T= (p.Leu3=) | |
| MT | m.10478C>A | CA913163463 | MT-ND4L | c.9C>A (p.Leu3=) | |
| MT | m.10478C= | CA2499566764 | MT-ND4L | c.9C= (p.Leu3=) | |
| MT | m.10478C>G | CA913163464 | MT-ND4L | c.9C>G (p.Leu3=) | |
| MT | m.10478C>T | CA913163466 | MT-ND4L | c.9C>T (p.Leu3=) | dbSNP |
| MT | m.10479A= | CA2573326103 | MT-ND4L | c.10A= (p.Ile4=) | |
| MT | m.10479A>C | CA414805487 | MT-ND4L | c.10A>C (p.Ile4Leu) | |
| MT | m.10479A>G | CA414805488 | MT-ND4L | c.10A>G (p.Ile4Val) | |
| MT | m.10479A>T | CA414805490 | MT-ND4L | c.10A>T (p.Ile4Phe) | |
| MT | m.10480T>A | CA414805493 | MT-ND4L | c.11T>A (p.Ile4Asn) | |
| MT | m.10480T>C | CA414805495 | MT-ND4L | c.11T>C (p.Ile4Thr) | |
| MT | m.10480T>G | CA414805497 | MT-ND4L | c.11T>G (p.Ile4Ser) | |
| MT | m.10480T= | CA2573326105 | MT-ND4L | c.11T= (p.Ile4=) | |
| MT | m.10481T>A | CA913163478 | MT-ND4L | c.12T>A (p.Ile4=) | |
| MT | m.10481T>C | CA913163479 | MT-ND4L | c.12T>C (p.Ile4=) | dbSNP |
| MT | m.10481T>G | CA414805499 | MT-ND4L | c.12T>G (p.Ile4Met) | |
| MT | m.10481T= | CA2499566765 | MT-ND4L | c.12T= (p.Ile4=) | |
| MT | m.10482T>A | CA414805505 | MT-ND4L | c.13T>A (p.Tyr5Asn) | |
| MT | m.10482T>C | CA414805504 | MT-ND4L | c.13T>C (p.Tyr5His) | |
| MT | m.10482T>G | CA414805502 | MT-ND4L | c.13T>G (p.Tyr5Asp) | |
| MT | m.10482T= | CA2573326107 | MT-ND4L | c.13T= (p.Tyr5=) | |
| MT | m.10483A= | CA2573326109 | MT-ND4L | c.14A= (p.Tyr5=) | |
| MT | m.10483A>C | CA414805508 | MT-ND4L | c.14A>C (p.Tyr5Ser) | |
| MT | m.10483A>G | CA414805510 | MT-ND4L | c.14A>G (p.Tyr5Cys) | |
| MT | m.10483A>T | CA414805511 | MT-ND4L | c.14A>T (p.Tyr5Phe) | |
| MT | m.10484C>A | CA414805514 | MT-ND4L | c.15C>A (p.Tyr5Ter) | |
| MT | m.10484C= | CA2499566766 | MT-ND4L | c.15C= (p.Tyr5=) | |
| MT | m.10484C>G | CA414805516 | MT-ND4L | c.15C>G (p.Tyr5Ter) | |
| MT | m.10484C>T | CA913163497 | MT-ND4L | c.15C>T (p.Tyr5=) | dbSNP |
| MT | m.10485A= | CA2573326116 | MT-ND4L | c.16A= (p.Ile6=) | |
| MT | m.10485A>C | CA414805518 | MT-ND4L | c.16A>C (p.Ile6Leu) | |
| MT | m.10485A>G | CA414805520 | MT-ND4L | c.16A>G (p.Ile6Val) | |
| MT | m.10485A>T | CA414805521 | MT-ND4L | c.16A>T (p.Ile6Leu) | |
| MT | m.10486T>A | CA414805525 | MT-ND4L | c.17T>A (p.Ile6Lys) | |
| MT | m.10486T>C | CA414805526 | MT-ND4L | c.17T>C (p.Ile6Thr) | |
| MT | m.10486T>G | CA414805527 | MT-ND4L | c.17T>G (p.Ile6Arg) | |
| MT | m.10486T= | CA2573326121 | MT-ND4L | c.17T= (p.Ile6=) | |
| MT | m.10487A= | CA2573326125 | MT-ND4L | c.18A= (p.Ile6=) | |
| MT | m.10487A>C | CA913163511 | MT-ND4L | c.18A>C (p.Ile6=) | |
| MT | m.10487A>G | CA414805530 | MT-ND4L | c.18A>G (p.Ile6Met) | |
| MT | m.10487A>T | CA913163512 | MT-ND4L | c.18A>T (p.Ile6=) | |
| MT | m.10488A= | CA2573326128 | MT-ND4L | c.19A= (p.Asn7=) | |
| MT | m.10488A>C | CA414805536 | MT-ND4L | c.19A>C (p.Asn7His) | |
| MT | m.10488A>G | CA414805534 | MT-ND4L | c.19A>G (p.Asn7Asp) | |
| MT | m.10488A>T | CA414805532 | MT-ND4L | c.19A>T (p.Asn7Tyr) | |
| MT | m.10489A= | CA2499566767 | MT-ND4L | c.20A= (p.Asn7=) | |
| MT | m.10489A>C | CA414805542 | MT-ND4L | c.20A>C (p.Asn7Thr) | |
| MT | m.10489A>G | CA414805538 | MT-ND4L | c.20A>G (p.Asn7Ser) | ClinVar dbSNP |
| MT | m.10489A>T | CA414805540 | MT-ND4L | c.20A>T (p.Asn7Ile) | |
| MT | m.10490T>A | CA414805544 | MT-ND4L | c.21T>A (p.Asn7Lys) | |
| MT | m.10490T>C | CA913163531 | MT-ND4L | c.21T>C (p.Asn7=) | dbSNP |
| MT | m.10490T>G | CA414805546 | MT-ND4L | c.21T>G (p.Asn7Lys) | |
| MT | m.10490T= | CA2499566768 | MT-ND4L | c.21T= (p.Asn7=) | |
| MT | m.10491A= | CA2573326133 | MT-ND4L | c.22A= (p.Ile8=) | |
| MT | m.10491A>C | CA414805548 | MT-ND4L | c.22A>C (p.Ile8Leu) | |
| MT | m.10491A>G | CA414805550 | MT-ND4L | c.22A>G (p.Ile8Val) | ClinVar dbSNP |
| MT | m.10491A>T | CA414805552 | MT-ND4L | c.22A>T (p.Ile8Phe) | |
| MT | m.10492T>A | CA414805554 | MT-ND4L | c.23T>A (p.Ile8Asn) | |
| MT | m.10492T>C | CA414805556 | MT-ND4L | c.23T>C (p.Ile8Thr) | ClinVar dbSNP |
| MT | m.10492T>G | CA414805558 | MT-ND4L | c.23T>G (p.Ile8Ser) | |
| MT | m.10492T= | CA2499566769 | MT-ND4L | c.23T= (p.Ile8=) | |
| MT | m.10493T>A | CA913163552 | MT-ND4L | c.24T>A (p.Ile8=) | |
| MT | m.10493T>C | CA645611406 | MT-ND4L | c.24T>C (p.Ile8=) | dbSNP COSMIC |
| MT | m.10493T>G | CA414805560 | MT-ND4L | c.24T>G (p.Ile8Met) | |
| MT | m.10493T= | CA2499566770 | MT-ND4L | c.24T= (p.Ile8=) | |
| MT | m.10494A= | CA2573326142 | MT-ND4L | c.25A= (p.Ile9=) | |
| MT | m.10494A>C | CA414805566 | MT-ND4L | c.25A>C (p.Ile9Leu) | |
| MT | m.10494A>G | CA414805564 | MT-ND4L | c.25A>G (p.Ile9Val) | |
| MT | m.10494A>T | CA414805562 | MT-ND4L | c.25A>T (p.Ile9Leu) | |
| MT | m.10495T>A | CA414805568 | MT-ND4L | c.26T>A (p.Ile9Lys) | |
| MT | m.10495T>C | CA414805570 | MT-ND4L | c.26T>C (p.Ile9Thr) | dbSNP |
| MT | m.10495T>G | CA414805571 | MT-ND4L | c.26T>G (p.Ile9Arg) | |
| MT | m.10495T= | CA2499566771 | MT-ND4L | c.26T= (p.Ile9=) | |
| MT | m.10496A= | CA2499566772 | MT-ND4L | c.27A= (p.Ile9=) | |
| MT | m.10496A>C | CA913163568 | MT-ND4L | c.27A>C (p.Ile9=) | |
| MT | m.10496A>G | CA414805574 | MT-ND4L | c.27A>G (p.Ile9Met) | dbSNP |
| MT | m.10496A>T | CA913163567 | MT-ND4L | c.27A>T (p.Ile9=) | |
| MT | m.10497C>A | CA414805576 | MT-ND4L | c.28C>A (p.Leu10Ile) | dbSNP |
| MT | m.10497C= | CA2499566773 | MT-ND4L | c.28C= (p.Leu10=) | |
| MT | m.10497C>G | CA414805577 | MT-ND4L | c.28C>G (p.Leu10Val) | |
| MT | m.10497C>T | CA913163572 | MT-ND4L | c.28C>T (p.Leu10=) | dbSNP |
| MT | m.10498T>A | CA414805580 | MT-ND4L | c.29T>A (p.Leu10Gln) | |
| MT | m.10498T>C | CA414805581 | MT-ND4L | c.29T>C (p.Leu10Pro) | |
| MT | m.10498T>G | CA414805583 | MT-ND4L | c.29T>G (p.Leu10Arg) | |
| MT | m.10498T= | CA2573326151 | MT-ND4L | c.29T= (p.Leu10=) | |
| MT | m.10499A= | CA2499566774 | MT-ND4L | c.30A= (p.Leu10=) | |
| MT | m.10499A>C | CA913163581 | MT-ND4L | c.30A>C (p.Leu10=) | |
| MT | m.10499A>G | CA16603191 | MT-ND4L | c.30A>G (p.Leu10=) | ClinVar dbSNP |
| MT | m.10499A>T | CA913163582 | MT-ND4L | c.30A>T (p.Leu10=) | |
| MT | m.10500G>A | CA414805586 | MT-ND4L | c.31G>A (p.Ala11Thr) | dbSNP |
| MT | m.10500G>C | CA414805587 | MT-ND4L | c.31G>C (p.Ala11Pro) | |
| MT | m.10500G= | CA2499566775 | MT-ND4L | c.31G= (p.Ala11=) | |
| MT | m.10500G>T | CA414805589 | MT-ND4L | c.31G>T (p.Ala11Ser) | |
| MT | m.10501C>A | CA414805593 | MT-ND4L | c.32C>A (p.Ala11Glu) | |
| MT | m.10501C= | CA2573326159 | MT-ND4L | c.32C= (p.Ala11=) | |
| MT | m.10501C>G | CA414805596 | MT-ND4L | c.32C>G (p.Ala11Gly) | |
| MT | m.10501C>T | CA414805592 | MT-ND4L | c.32C>T (p.Ala11Val) | |
| MT | m.10502A= | CA2499566776 | MT-ND4L | c.33A= (p.Ala11=) | |
| MT | m.10502A>C | CA913163597 | MT-ND4L | c.33A>C (p.Ala11=) | |
| MT | m.10502A>G | CA913163600 | MT-ND4L | c.33A>G (p.Ala11=) | dbSNP |
| MT | m.10502A>T | CA913163598 | MT-ND4L | c.33A>T (p.Ala11=) | |
| MT | m.10503T>A | CA414805598 | MT-ND4L | c.34T>A (p.Phe12Ile) | |
| MT | m.10503T>C | CA414805601 | MT-ND4L | c.34T>C (p.Phe12Leu) | |
| MT | m.10503T>G | CA414805599 | MT-ND4L | c.34T>G (p.Phe12Val) | |
| MT | m.10503T= | CA2573326165 | MT-ND4L | c.34T= (p.Phe12=) | |
| MT | m.10504T>A | CA414805604 | MT-ND4L | c.35T>A (p.Phe12Tyr) | |
| MT | m.10504T>C | CA414805605 | MT-ND4L | c.35T>C (p.Phe12Ser) | |
| MT | m.10504T>G | CA414805607 | MT-ND4L | c.35T>G (p.Phe12Cys) | |
| MT | m.10504T= | CA2573326169 | MT-ND4L | c.35T= (p.Phe12=) | |
| MT | m.10505T>A | CA414805610 | MT-ND4L | c.36T>A (p.Phe12Leu) | |
| MT | m.10505T>C | CA913163612 | MT-ND4L | c.36T>C (p.Phe12=) | |
| MT | m.10505T>G | CA414805611 | MT-ND4L | c.36T>G (p.Phe12Leu) | |
| MT | m.10505T= | CA2573326172 | MT-ND4L | c.36T= (p.Phe12=) | |
| MT | m.10506A= | CA2499566777 | MT-ND4L | c.37A= (p.Thr13=) | |
| MT | m.10506A>C | CA414805614 | MT-ND4L | c.37A>C (p.Thr13Pro) | |
| MT | m.10506A>G | CA337098854 | MT-ND4L | c.37A>G (p.Thr13Ala) | ClinVar dbSNP |
| MT | m.10506A>T | CA414805616 | MT-ND4L | c.37A>T (p.Thr13Ser) | |
| MT | m.10507C>A | CA414805619 | MT-ND4L | c.38C>A (p.Thr13Asn) | |
| MT | m.10507C= | CA2499566778 | MT-ND4L | c.38C= (p.Thr13=) | |
| MT | m.10507C>G | CA414805621 | MT-ND4L | c.38C>G (p.Thr13Ser) | |
| MT | m.10507C>T | CA414805622 | MT-ND4L | c.38C>T (p.Thr13Ile) | ClinVar dbSNP |
| MT | m.10508C>A | CA913163626 | MT-ND4L | c.39C>A (p.Thr13=) | |
| MT | m.10508C= | CA2499566779 | MT-ND4L | c.39C= (p.Thr13=) | |
| MT | m.10508C>G | CA913163624 | MT-ND4L | c.39C>G (p.Thr13=) | |
| MT | m.10508C>T | CA913163623 | MT-ND4L | c.39C>T (p.Thr13=) | dbSNP |
| MT | m.10509A= | CA2573326182 | MT-ND4L | c.40A= (p.Ile14=) | |
| MT | m.10509A>C | CA414805628 | MT-ND4L | c.40A>C (p.Ile14Leu) | |
| MT | m.10509A>G | CA414805625 | MT-ND4L | c.40A>G (p.Ile14Val) | |
| MT | m.10509A>T | CA414805627 | MT-ND4L | c.40A>T (p.Ile14Phe) | |
| MT | m.10510T>A | CA414805630 | MT-ND4L | c.41T>A (p.Ile14Asn) | |
| MT | m.10510T>C | CA414805632 | MT-ND4L | c.41T>C (p.Ile14Thr) | |
| MT | m.10510T>G | CA414805634 | MT-ND4L | c.41T>G (p.Ile14Ser) | |
| MT | m.10510T= | CA2573326186 | MT-ND4L | c.41T= (p.Ile14=) | |
| MT | m.10511C>A | CA913163630 | MT-ND4L | c.42C>A (p.Ile14=) | |
| MT | m.10511C= | CA2573326191 | MT-ND4L | c.42C= (p.Ile14=) | |
| MT | m.10511C>G | CA414805636 | MT-ND4L | c.42C>G (p.Ile14Met) | |
| MT | m.10511C>T | CA913163634 | MT-ND4L | c.42C>T (p.Ile14=) | |
| MT | m.10512T>A | CA414805638 | MT-ND4L | c.43T>A (p.Ser15Thr) | |
| MT | m.10512T>C | CA414805640 | MT-ND4L | c.43T>C (p.Ser15Pro) | |
| MT | m.10512T>G | CA414805641 | MT-ND4L | c.43T>G (p.Ser15Ala) | |
| MT | m.10512T= | CA2573326192 | MT-ND4L | c.43T= (p.Ser15=) | |
| MT | m.10513C>A | CA414805644 | MT-ND4L | c.44C>A (p.Ser15Ter) | |
| MT | m.10513C= | CA2573326193 | MT-ND4L | c.44C= (p.Ser15=) | |
| MT | m.10513C>G | CA414805646 | MT-ND4L | c.44C>G (p.Ser15Ter) | |
| MT | m.10513C>T | CA414805647 | MT-ND4L | c.44C>T (p.Ser15Leu) | |
| MT | m.10514A= | CA2499566780 | MT-ND4L | c.45A= (p.Ser15=) | |
| MT | m.10514A>C | CA337098856 | MT-ND4L | c.45A>C (p.Ser15=) | |
| MT | m.10514A>G | CA913163637 | MT-ND4L | c.45A>G (p.Ser15=) | dbSNP |
| MT | m.10514A>T | CA337098859 | MT-ND4L | c.45A>T (p.Ser15=) | |
| MT | m.10515C>A | CA414805653 | MT-ND4L | c.46C>A (p.Leu16Ile) | |
| MT | m.10515C= | CA2573326196 | MT-ND4L | c.46C= (p.Leu16=) | |
| MT | m.10515C>G | CA414805654 | MT-ND4L | c.46C>G (p.Leu16Val) | |
| MT | m.10515C>T | CA414805656 | MT-ND4L | c.46C>T (p.Leu16Phe) | |
| MT | m.10516T>A | CA414805659 | MT-ND4L | c.47T>A (p.Leu16His) | |
| MT | m.10516T>C | CA414805660 | MT-ND4L | c.47T>C (p.Leu16Pro) | |
| MT | m.10516T>G | CA414805662 | MT-ND4L | c.47T>G (p.Leu16Arg) | |
| MT | m.10516T= | CA2573326198 | MT-ND4L | c.47T= (p.Leu16=) | |
| MT | m.10517T>A | CA913163649 | MT-ND4L | c.48T>A (p.Leu16=) | |
| MT | m.10517T>C | CA913163647 | MT-ND4L | c.48T>C (p.Leu16=) | |
| MT | m.10517T>G | CA913163646 | MT-ND4L | c.48T>G (p.Leu16=) | |
| MT | m.10517T= | CA2573326201 | MT-ND4L | c.48T= (p.Leu16=) | |
| MT | m.10518C>A | CA414805664 | MT-ND4L | c.49C>A (p.Leu17Ile) | |
| MT | m.10518C= | CA2573326203 | MT-ND4L | c.49C= (p.Leu17=) | |
| MT | m.10518C>G | CA414805665 | MT-ND4L | c.49C>G (p.Leu17Val) | |
| MT | m.10518C>T | CA913163652 | MT-ND4L | c.49C>T (p.Leu17=) | |
| MT | m.10519T>A | CA414805668 | MT-ND4L | c.50T>A (p.Leu17Gln) | |
| MT | m.10519T>C | CA414805670 | MT-ND4L | c.50T>C (p.Leu17Pro) | |
| MT | m.10519T>G | CA414805671 | MT-ND4L | c.50T>G (p.Leu17Arg) | |
| MT | m.10519T= | CA2573326206 | MT-ND4L | c.50T= (p.Leu17=) | |
| MT | m.10520A= | CA2573326209 | MT-ND4L | c.51A= (p.Leu17=) | |
| MT | m.10520A>C | CA913163667 | MT-ND4L | c.51A>C (p.Leu17=) | |
| MT | m.10520A>G | CA913163665 | MT-ND4L | c.51A>G (p.Leu17=) | |
| MT | m.10520A>T | CA913163663 | MT-ND4L | c.51A>T (p.Leu17=) | |
| MT | m.10521G>A | CA337098862 | MT-ND4L | c.52G>A (p.Gly18Arg) | dbSNP |
| MT | m.10521G>C | CA414805676 | MT-ND4L | c.52G>C (p.Gly18Arg) | |
| MT | m.10521G= | CA2499566781 | MT-ND4L | c.52G= (p.Gly18=) | |
| MT | m.10521G>T | CA414805674 | MT-ND4L | c.52G>T (p.Gly18Ter) | |
| MT | m.10522G>A | CA414805679 | MT-ND4L | c.53G>A (p.Gly18Glu) | ClinVar dbSNP |
| MT | m.10522G>C | CA414805681 | MT-ND4L | c.53G>C (p.Gly18Ala) | |
| MT | m.10522G= | CA2499566782 | MT-ND4L | c.53G= (p.Gly18=) | |
| MT | m.10522G>T | CA414805682 | MT-ND4L | c.53G>T (p.Gly18Val) | |
| MT | m.10523A= | CA2573326217 | MT-ND4L | c.54A= (p.Gly18=) | |
| MT | m.10523A>C | CA913163680 | MT-ND4L | c.54A>C (p.Gly18=) | |
| MT | m.10523A>G | CA913163677 | MT-ND4L | c.54A>G (p.Gly18=) | dbSNP |
| MT | m.10523A>T | CA913163683 | MT-ND4L | c.54A>T (p.Gly18=) | |
| MT | m.10524A= | CA2499566783 | MT-ND4L | c.55A= (p.Ile19=) | |
| MT | m.10524A>C | CA414805685 | MT-ND4L | c.55A>C (p.Ile19Leu) | |
| MT | m.10524A>G | CA414805686 | MT-ND4L | c.55A>G (p.Ile19Val) | ClinVar dbSNP |
| MT | m.10524A>T | CA414805688 | MT-ND4L | c.55A>T (p.Ile19Leu) | |
| MT | m.10525T>A | CA414805690 | MT-ND4L | c.56T>A (p.Ile19Lys) | |
| MT | m.10525T>C | CA414805692 | MT-ND4L | c.56T>C (p.Ile19Thr) | |
| MT | m.10525T>G | CA414805693 | MT-ND4L | c.56T>G (p.Ile19Arg) | |
| MT | m.10525T= | CA2573326225 | MT-ND4L | c.56T= (p.Ile19=) | |
| MT | m.10526A= | CA2573326230 | MT-ND4L | c.57A= (p.Ile19=) | |
| MT | m.10526A>C | CA913163692 | MT-ND4L | c.57A>C (p.Ile19=) | |
| MT | m.10526A>G | CA414805695 | MT-ND4L | c.57A>G (p.Ile19Met) | |
| MT | m.10526A>T | CA913163688 | MT-ND4L | c.57A>T (p.Ile19=) | |
| MT | m.10527C>A | CA414805697 | MT-ND4L | c.58C>A (p.Leu20Ile) | |
| MT | m.10527C= | CA2499566784 | MT-ND4L | c.58C= (p.Leu20=) | |
| MT | m.10527C>G | CA414805699 | MT-ND4L | c.58C>G (p.Leu20Val) | |
| MT | m.10527C>T | CA913163693 | MT-ND4L | c.58C>T (p.Leu20=) | dbSNP |
| MT | m.10528T>A | CA414805703 | MT-ND4L | c.59T>A (p.Leu20Gln) | |
| MT | m.10528T>C | CA414805705 | MT-ND4L | c.59T>C (p.Leu20Pro) | |
| MT | m.10528T>G | CA414805702 | MT-ND4L | c.59T>G (p.Leu20Arg) | |
| MT | m.10528T= | CA2573326234 | MT-ND4L | c.59T= (p.Leu20=) | |
| MT | m.10529A= | CA2499566785 | MT-ND4L | c.60A= (p.Leu20=) | |
| MT | m.10529A>C | CA913163702 | MT-ND4L | c.60A>C (p.Leu20=) | |
| MT | m.10529A>G | CA913163701 | MT-ND4L | c.60A>G (p.Leu20=) | dbSNP |
| MT | m.10529A>T | CA913163700 | MT-ND4L | c.60A>T (p.Leu20=) | |
| MT | m.10530G>A | CA414805707 | MT-ND4L | c.61G>A (p.Val21Ile) | ClinVar dbSNP |
| MT | m.10530G>C | CA414805709 | MT-ND4L | c.61G>C (p.Val21Leu) | |
| MT | m.10530G= | CA2499566786 | MT-ND4L | c.61G= (p.Val21=) | |
| MT | m.10530G>T | CA414805711 | MT-ND4L | c.61G>T (p.Val21Leu) | |
| MT | m.10531T>A | CA414805713 | MT-ND4L | c.62T>A (p.Val21Glu) | |
| MT | m.10531T>C | CA414805714 | MT-ND4L | c.62T>C (p.Val21Ala) | |
| MT | m.10531T>G | CA414805716 | MT-ND4L | c.62T>G (p.Val21Gly) | |
| MT | m.10531T= | CA2573326243 | MT-ND4L | c.62T= (p.Val21=) | |
| MT | m.10532A= | CA2573326245 | MT-ND4L | c.63A= (p.Val21=) | |
| MT | m.10532A>C | CA913163707 | MT-ND4L | c.63A>C (p.Val21=) | |
| MT | m.10532A>G | CA913163704 | MT-ND4L | c.63A>G (p.Val21=) | dbSNP |
| MT | m.10532A>T | CA913163705 | MT-ND4L | c.63A>T (p.Val21=) | |
| MT | m.10533T>A | CA414805722 | MT-ND4L | c.64T>A (p.Tyr22Asn) | |
| MT | m.10533T>C | CA414805719 | MT-ND4L | c.64T>C (p.Tyr22His) | |
| MT | m.10533T>G | CA414805720 | MT-ND4L | c.64T>G (p.Tyr22Asp) | |
| MT | m.10533T= | CA2573326247 | MT-ND4L | c.64T= (p.Tyr22=) | |
| MT | m.10534_10535insATATTTATGTAAATGAGGGGCATTTGGTAAATATGATTA | CA2740098340 | MT-ND4L | c.65_66insATATTTATGTAAATGAGGGGCATTTGGTAAATATGATTA (p.Tyr22Ter) | |
| MT | m.10534A= | CA2573326250 | MT-ND4L | c.65A= (p.Tyr22=) | |
| MT | m.10534A>C | CA414805725 | MT-ND4L | c.65A>C (p.Tyr22Ser) | |
| MT | m.10534A>G | CA414805726 | MT-ND4L | c.65A>G (p.Tyr22Cys) | |
| MT | m.10534A>T | CA414805728 | MT-ND4L | c.65A>T (p.Tyr22Phe) | |
| MT | m.10535T>A | CA414805730 | MT-ND4L | c.66T>A (p.Tyr22Ter) | |
| MT | m.10535T>C | CA913163720 | MT-ND4L | c.66T>C (p.Tyr22=) | dbSNP |
| MT | m.10535T>G | CA414805732 | MT-ND4L | c.66T>G (p.Tyr22Ter) | |
| MT | m.10535T= | CA2499566787 | MT-ND4L | c.66T= (p.Tyr22=) | |
| MT | m.10536C>A | CA414805734 | MT-ND4L | c.67C>A (p.Arg23Ser) | |
| MT | m.10536C= | CA2573326255 | MT-ND4L | c.67C= (p.Arg23=) | |
| MT | m.10536C>G | CA414805738 | MT-ND4L | c.67C>G (p.Arg23Gly) | |
| MT | m.10536C>T | CA414805736 | MT-ND4L | c.67C>T (p.Arg23Cys) | |
| MT | m.10536_10537insATAATTTAATGAGTCGAAATCATTCGTTTTGTTTAAACTATATACCAATTCGGTTCAGTCTAATCCTTTTT | CA2740098341 | MT-ND4L | c.67_68insATAATTTAATGAGTCGAAATCATTCGTTTTGTTTAAACTATATACCAATTCGGTTCAGTCTAATCCTTTTT (p.Arg23HisfsTer35) | |
| MT | m.10537G>A | CA414805740 | MT-ND4L | c.68G>A (p.Arg23His) | |
| MT | m.10537G>C | CA414805742 | MT-ND4L | c.68G>C (p.Arg23Pro) | |
| MT | m.10537G= | CA2573326257 | MT-ND4L | c.68G= (p.Arg23=) | |
| MT | m.10537G>T | CA414805744 | MT-ND4L | c.68G>T (p.Arg23Leu) | |
| MT | m.10538C>A | CA913163734 | MT-ND4L | c.69C>A (p.Arg23=) | dbSNP |
| MT | m.10538C= | CA2499566788 | MT-ND4L | c.69C= (p.Arg23=) | |
| MT | m.10538C>G | CA337098870 | MT-ND4L | c.69C>G (p.Arg23=) | |
| MT | m.10538C>T | CA337098873 | MT-ND4L | c.69C>T (p.Arg23=) | |
| MT | m.10539T>A | CA414805748 | MT-ND4L | c.70T>A (p.Ser24Thr) | |
| MT | m.10539T>C | CA414805750 | MT-ND4L | c.70T>C (p.Ser24Pro) | |
| MT | m.10539T>G | CA414805752 | MT-ND4L | c.70T>G (p.Ser24Ala) | |
| MT | m.10539T= | CA2573326263 | MT-ND4L | c.70T= (p.Ser24=) | |
| MT | m.10540C>A | CA414805754 | MT-ND4L | c.71C>A (p.Ser24Ter) | |
| MT | m.10540C= | CA2573326266 | MT-ND4L | c.71C= (p.Ser24=) | |
| MT | m.10540C>G | CA414805756 | MT-ND4L | c.71C>G (p.Ser24Ter) | |
| MT | m.10540C>T | CA414805757 | MT-ND4L | c.71C>T (p.Ser24Leu) | |
| MT | m.10541A= | CA2573326269 | MT-ND4L | c.72A= (p.Ser24=) | |
| MT | m.10541A>C | CA913163742 | MT-ND4L | c.72A>C (p.Ser24=) | |
| MT | m.10541A>G | CA913163741 | MT-ND4L | c.72A>G (p.Ser24=) | |
| MT | m.10541A>T | CA913163740 | MT-ND4L | c.72A>T (p.Ser24=) | |
| MT | m.10542C>A | CA414805763 | MT-ND4L | c.73C>A (p.His25Asn) | |
| MT | m.10542C= | CA2573326273 | MT-ND4L | c.73C= (p.His25=) | |
| MT | m.10542C>G | CA414805760 | MT-ND4L | c.73C>G (p.His25Asp) | |
| MT | m.10542C>T | CA414805761 | MT-ND4L | c.73C>T (p.His25Tyr) | |
| MT | m.10543A= | CA2573326274 | MT-ND4L | c.74A= (p.His25=) | |
| MT | m.10543A>C | CA414805766 | MT-ND4L | c.74A>C (p.His25Pro) | |
| MT | m.10543A>G | CA414805767 | MT-ND4L | c.74A>G (p.His25Arg) | |
| MT | m.10543A>T | CA414805769 | MT-ND4L | c.74A>T (p.His25Leu) | |
| MT | m.10544C>A | CA414805772 | MT-ND4L | c.75C>A (p.His25Gln) | |
| MT | m.10544C= | CA2499566789 | MT-ND4L | c.75C= (p.His25=) | |
| MT | m.10544C>G | CA414805773 | MT-ND4L | c.75C>G (p.His25Gln) | |
| MT | m.10544C>T | CA913163746 | MT-ND4L | c.75C>T (p.His25=) | dbSNP |
| MT | m.10545C>A | CA414805776 | MT-ND4L | c.76C>A (p.Leu26Ile) | |
| MT | m.10545C= | CA2573326278 | MT-ND4L | c.76C= (p.Leu26=) | |
| MT | m.10545C>G | CA414805777 | MT-ND4L | c.76C>G (p.Leu26Val) | |
| MT | m.10545C>T | CA414805779 | MT-ND4L | c.76C>T (p.Leu26Phe) | |
| MT | m.10546T>A | CA414805782 | MT-ND4L | c.77T>A (p.Leu26His) | |
| MT | m.10546T>C | CA414805783 | MT-ND4L | c.77T>C (p.Leu26Pro) | |
| MT | m.10546T>G | CA414805785 | MT-ND4L | c.77T>G (p.Leu26Arg) | |
| MT | m.10546T= | CA2573326279 | MT-ND4L | c.77T= (p.Leu26=) | |
| MT | m.10547C>A | CA913163748 | MT-ND4L | c.78C>A (p.Leu26=) | |
| MT | m.10547C= | CA2573326281 | MT-ND4L | c.78C= (p.Leu26=) | |
| MT | m.10547C>G | CA913163749 | MT-ND4L | c.78C>G (p.Leu26=) | |
| MT | m.10547C>T | CA913163750 | MT-ND4L | c.78C>T (p.Leu26=) | |
| MT | m.10548A= | CA2499566790 | MT-ND4L | c.79A= (p.Ile27=) | |
| MT | m.10548A>C | CA414805791 | MT-ND4L | c.79A>C (p.Ile27Leu) | dbSNP |
| MT | m.10548A>G | CA414805789 | MT-ND4L | c.79A>G (p.Ile27Val) | |
| MT | m.10548A>T | CA414805787 | MT-ND4L | c.79A>T (p.Ile27Leu) | |
| MT | m.10549T>A | CA414805792 | MT-ND4L | c.80T>A (p.Ile27Lys) | |
| MT | m.10549T>C | CA414805794 | MT-ND4L | c.80T>C (p.Ile27Thr) | dbSNP |
| MT | m.10549T>G | CA414805796 | MT-ND4L | c.80T>G (p.Ile27Arg) | |
| MT | m.10549T= | CA2499566791 | MT-ND4L | c.80T= (p.Ile27=) | |
| MT | m.10550A= | CA2499566792 | MT-ND4L | c.81A= (p.Ile27=) | |
| MT | m.10550A>C | CA337098876 | MT-ND4L | c.81A>C (p.Ile27=) | |
| MT | m.10550A>G | CA337098884 | MT-ND4L | c.81A>G (p.Ile27Met) | dbSNP |
| MT | m.10550A>T | CA337098886 | MT-ND4L | c.81A>T (p.Ile27=) | |
| MT | m.10551T>A | CA414805802 | MT-ND4L | c.82T>A (p.Ser28Thr) | |
| MT | m.10551T>C | CA414805804 | MT-ND4L | c.82T>C (p.Ser28Pro) | |
| MT | m.10551T>G | CA414805805 | MT-ND4L | c.82T>G (p.Ser28Ala) | |
| MT | m.10551T= | CA2573326291 | MT-ND4L | c.82T= (p.Ser28=) | |
| MT | m.10552C>A | CA414805808 | MT-ND4L | c.83C>A (p.Ser28Tyr) | |
| MT | m.10552C= | CA2573326305 | MT-ND4L | c.83C= (p.Ser28=) | |
| MT | m.10552C>G | CA414805809 | MT-ND4L | c.83C>G (p.Ser28Cys) | |
| MT | m.10552C>T | CA414805811 | MT-ND4L | c.83C>T (p.Ser28Phe) | |
| MT | m.10553C>A | CA913163789 | MT-ND4L | c.84C>A (p.Ser28=) | |
| MT | m.10553C= | CA2573326310 | MT-ND4L | c.84C= (p.Ser28=) | |
| MT | m.10553C>G | CA913163785 | MT-ND4L | c.84C>G (p.Ser28=) | |
| MT | m.10553C>T | CA913163788 | MT-ND4L | c.84C>T (p.Ser28=) | |
| MT | m.10554T>A | CA414805817 | MT-ND4L | c.85T>A (p.Ser29Thr) | |
| MT | m.10554T>C | CA414805814 | MT-ND4L | c.85T>C (p.Ser29Pro) | |
| MT | m.10554T>G | CA414805815 | MT-ND4L | c.85T>G (p.Ser29Ala) | |
| MT | m.10554T= | CA2573326311 | MT-ND4L | c.85T= (p.Ser29=) | |
| MT | m.10555C>A | CA414805820 | MT-ND4L | c.86C>A (p.Ser29Tyr) | |
| MT | m.10555C= | CA2573326315 | MT-ND4L | c.86C= (p.Ser29=) | |
| MT | m.10555C>G | CA414805823 | MT-ND4L | c.86C>G (p.Ser29Cys) | |
| MT | m.10555C>T | CA414805821 | MT-ND4L | c.86C>T (p.Ser29Phe) | |
| MT | m.10556C>A | CA913163797 | MT-ND4L | c.87C>A (p.Ser29=) | |
| MT | m.10556C= | CA2499566793 | MT-ND4L | c.87C= (p.Ser29=) | |
| MT | m.10556C>G | CA913163798 | MT-ND4L | c.87C>G (p.Ser29=) | dbSNP |
| MT | m.10556C>T | CA913163799 | MT-ND4L | c.87C>T (p.Ser29=) | dbSNP |