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.10209T>A | CA414804509 | MT-ND3 | c.151T>A (p.Phe51Ile) | |
| MT | m.10209T>C | CA414804510 | MT-ND3 | c.151T>C (p.Phe51Leu) | dbSNP |
| MT | m.10209T>G | CA414804511 | MT-ND3 | c.151T>G (p.Phe51Val) | |
| MT | m.10209T= | CA2499566650 | MT-ND3 | c.151T= (p.Phe51=) | |
| MT | m.10210T>A | CA414804512 | MT-ND3 | c.152T>A (p.Phe51Tyr) | |
| MT | m.10210T>C | CA414804513 | MT-ND3 | c.152T>C (p.Phe51Ser) | |
| MT | m.10210T>G | CA414804514 | MT-ND3 | c.152T>G (p.Phe51Cys) | |
| MT | m.10210T= | CA2513612057 | MT-ND3 | c.152T= (p.Phe51=) | |
| MT | m.10211C>A | CA414804516 | MT-ND3 | c.153C>A (p.Phe51Leu) | |
| MT | m.10211C= | CA2499566651 | MT-ND3 | c.153C= (p.Phe51=) | |
| MT | m.10211C>G | CA414804515 | MT-ND3 | c.153C>G (p.Phe51Leu) | |
| MT | m.10211C>T | CA913162351 | MT-ND3 | c.153C>T (p.Phe51=) | dbSNP |
| MT | m.10212T>A | CA414804517 | MT-ND3 | c.154T>A (p.Ser52Thr) | |
| MT | m.10212T>C | CA414804518 | MT-ND3 | c.154T>C (p.Ser52Pro) | |
| MT | m.10212T>G | CA414804519 | MT-ND3 | c.154T>G (p.Ser52Ala) | |
| MT | m.10212T= | CA2573325355 | MT-ND3 | c.154T= (p.Ser52=) | |
| MT | m.10212_10213insATGTAG | CA2740098329 | MT-ND3 | c.154_155insATGTAG (p.Ser52delinsTyrValAla) | |
| MT | m.10213C>A | CA414804520 | MT-ND3 | c.155C>A (p.Ser52Tyr) | |
| MT | m.10213C= | CA2573325357 | MT-ND3 | c.155C= (p.Ser52=) | |
| MT | m.10213C>G | CA414804521 | MT-ND3 | c.155C>G (p.Ser52Cys) | |
| MT | m.10213C>T | CA414804522 | MT-ND3 | c.155C>T (p.Ser52Phe) | |
| MT | m.10213_10214del | CA2740098330 | MT-ND3 | c.155_156del (p.Ser52TyrfsTer14) | |
| MT | m.10214C>A | CA913162361 | MT-ND3 | c.156C>A (p.Ser52=) | |
| MT | m.10214C= | CA2573325361 | MT-ND3 | c.156C= (p.Ser52=) | |
| MT | m.10214C>G | CA913162362 | MT-ND3 | c.156C>G (p.Ser52=) | |
| MT | m.10214C>T | CA913162360 | MT-ND3 | c.156C>T (p.Ser52=) | |
| MT | m.10215A= | CA2573325363 | MT-ND3 | c.157A= (p.Ile53=) | |
| MT | m.10215A>C | CA414804523 | MT-ND3 | c.157A>C (p.Ile53Leu) | |
| MT | m.10215A>G | CA414804524 | MT-ND3 | c.157A>G (p.Ile53Val) | |
| MT | m.10215A>T | CA414804525 | MT-ND3 | c.157A>T (p.Ile53Leu) | |
| MT | m.10215_10216insCTT | CA2740098331 | MT-ND3 | c.157_158insCTT (p.Ile53delinsThrLeu) | |
| MT | m.10215_10216insCGTCCATGACTTGCCAACATGTAGGTT | CA2740098332 | MT-ND3 | c.157_158insCGTCCATGACTTGCCAACATGTAGGTT (p.Ile53delinsThrSerMetThrCysGlnHisValGlyLeu) | |
| MT | m.10216T>A | CA414804526 | MT-ND3 | c.158T>A (p.Ile53Lys) | |
| MT | m.10216T>C | CA414804527 | MT-ND3 | c.158T>C (p.Ile53Thr) | |
| MT | m.10216T>G | CA414804528 | MT-ND3 | c.158T>G (p.Ile53Arg) | |
| MT | m.10216T= | CA2573325366 | MT-ND3 | c.158T= (p.Ile53=) | |
| MT | m.10216_10217insTGAGTTGTGGTAGTC | CA2740098333 | MT-ND3 | c.158_159insTGAGTTGTGGTAGTC (p.Ile54GlufsTer4) | |
| MT | m.10217A= | CA2499566652 | MT-ND3 | c.159A= (p.Ile53=) | |
| MT | m.10217A>C | CA913162371 | MT-ND3 | c.159A>C (p.Ile53=) | |
| MT | m.10217A>G | CA414804529 | MT-ND3 | c.159A>G (p.Ile53Met) | dbSNP |
| MT | m.10217A>T | CA913162372 | MT-ND3 | c.159A>T (p.Ile53=) | |
| MT | m.10220del | CA2573105058 | MT-ND3 | c.162del (p.Lys54AsnfsTer4) | |
| MT | m.10218A= | CA2573325370 | MT-ND3 | c.160A= (p.Lys54=) | |
| MT | m.10218A>C | CA414804532 | MT-ND3 | c.160A>C (p.Lys54Gln) | |
| MT | m.10218A>G | CA414804531 | MT-ND3 | c.160A>G (p.Lys54Glu) | |
| MT | m.10218A>T | CA414804530 | MT-ND3 | c.160A>T (p.Lys54Ter) | |
| MT | m.10219A= | CA2573325374 | MT-ND3 | c.161A= (p.Lys54=) | |
| MT | m.10219A>C | CA414804533 | MT-ND3 | c.161A>C (p.Lys54Thr) | |
| MT | m.10219A>G | CA414804534 | MT-ND3 | c.161A>G (p.Lys54Arg) | |
| MT | m.10219A>T | CA414804535 | MT-ND3 | c.161A>T (p.Lys54Ile) | |
| MT | m.10220A= | CA2573325377 | MT-ND3 | c.162A= (p.Lys54=) | |
| MT | m.10220A>C | CA414804536 | MT-ND3 | c.162A>C (p.Lys54Asn) | |
| MT | m.10220A>G | CA913162381 | MT-ND3 | c.162A>G (p.Lys54=) | |
| MT | m.10220A>T | CA414804537 | MT-ND3 | c.162A>T (p.Lys54Asn) | |
| MT | m.10221T>A | CA414804538 | MT-ND3 | c.163T>A (p.Phe55Ile) | |
| MT | m.10221T>C | CA414804539 | MT-ND3 | c.163T>C (p.Phe55Leu) | dbSNP |
| MT | m.10221T>G | CA414804540 | MT-ND3 | c.163T>G (p.Phe55Val) | |
| MT | m.10221T= | CA2499566653 | MT-ND3 | c.163T= (p.Phe55=) | |
| MT | m.10222T>A | CA414804541 | MT-ND3 | c.164T>A (p.Phe55Tyr) | |
| MT | m.10222T>C | CA414804542 | MT-ND3 | c.164T>C (p.Phe55Ser) | |
| MT | m.10222T>G | CA414804543 | MT-ND3 | c.164T>G (p.Phe55Cys) | |
| MT | m.10222T= | CA2573325384 | MT-ND3 | c.164T= (p.Phe55=) | |
| MT | m.10223C>A | CA414804544 | MT-ND3 | c.165C>A (p.Phe55Leu) | |
| MT | m.10223C= | CA2573325386 | MT-ND3 | c.165C= (p.Phe55=) | |
| MT | m.10223C>G | CA414804545 | MT-ND3 | c.165C>G (p.Phe55Leu) | |
| MT | m.10223C>T | CA913162395 | MT-ND3 | c.165C>T (p.Phe55=) | |
| MT | m.10224T>A | CA414804551 | MT-ND3 | c.166T>A (p.Phe56Ile) | |
| MT | m.10224T>C | CA414804549 | MT-ND3 | c.166T>C (p.Phe56Leu) | |
| MT | m.10224T>G | CA414804547 | MT-ND3 | c.166T>G (p.Phe56Val) | |
| MT | m.10224T= | CA2573325389 | MT-ND3 | c.166T= (p.Phe56=) | |
| MT | m.10225T>A | CA414804553 | MT-ND3 | c.167T>A (p.Phe56Tyr) | |
| MT | m.10225T>C | CA414804555 | MT-ND3 | c.167T>C (p.Phe56Ser) | ClinVar dbSNP |
| MT | m.10225T>G | CA414804556 | MT-ND3 | c.167T>G (p.Phe56Cys) | |
| MT | m.10225T= | CA2499566654 | MT-ND3 | c.167T= (p.Phe56=) | |
| MT | m.10226C>A | CA414804559 | MT-ND3 | c.168C>A (p.Phe56Leu) | |
| MT | m.10226C= | CA2573325395 | MT-ND3 | c.168C= (p.Phe56=) | |
| MT | m.10226C>G | CA414804561 | MT-ND3 | c.168C>G (p.Phe56Leu) | |
| MT | m.10226C>T | CA913162403 | MT-ND3 | c.168C>T (p.Phe56=) | |
| MT | m.10227T>A | CA414804563 | MT-ND3 | c.169T>A (p.Leu57Ile) | |
| MT | m.10227T>C | CA913162404 | MT-ND3 | c.169T>C (p.Leu57=) | |
| MT | m.10227T>G | CA414804565 | MT-ND3 | c.169T>G (p.Leu57Val) | |
| MT | m.10227T= | CA2573325397 | MT-ND3 | c.169T= (p.Leu57=) | |
| MT | m.10228T>A | CA414804568 | MT-ND3 | c.170T>A (p.Leu57Ter) | |
| MT | m.10228T>C | CA414804570 | MT-ND3 | c.170T>C (p.Leu57Ser) | |
| MT | m.10228T>G | CA414804572 | MT-ND3 | c.170T>G (p.Leu57Ter) | |
| MT | m.10228T= | CA2573325399 | MT-ND3 | c.170T= (p.Leu57=) | |
| MT | m.10229A= | CA2573325402 | MT-ND3 | c.171A= (p.Leu57=) | |
| MT | m.10229A>C | CA414804574 | MT-ND3 | c.171A>C (p.Leu57Phe) | |
| MT | m.10229A>G | CA913162407 | MT-ND3 | c.171A>G (p.Leu57=) | |
| MT | m.10229A>T | CA414804575 | MT-ND3 | c.171A>T (p.Leu57Phe) | |
| MT | m.10230G>A | CA414804582 | MT-ND3 | c.172G>A (p.Val58Ile) | |
| MT | m.10230G>C | CA414804580 | MT-ND3 | c.172G>C (p.Val58Leu) | |
| MT | m.10230G= | CA2573325406 | MT-ND3 | c.172G= (p.Val58=) | |
| MT | m.10230G>T | CA414804579 | MT-ND3 | c.172G>T (p.Val58Leu) | |
| MT | m.10231T>A | CA414804584 | MT-ND3 | c.173T>A (p.Val58Glu) | |
| MT | m.10231T>C | CA414804586 | MT-ND3 | c.173T>C (p.Val58Ala) | dbSNP |
| MT | m.10231T>G | CA414804588 | MT-ND3 | c.173T>G (p.Val58Gly) | |
| MT | m.10231T= | CA2499566655 | MT-ND3 | c.173T= (p.Val58=) | |
| MT | m.10232A= | CA2499566656 | MT-ND3 | c.174A= (p.Val58=) | |
| MT | m.10232A>C | CA913162414 | MT-ND3 | c.174A>C (p.Val58=) | |
| MT | m.10232A>G | CA913162415 | MT-ND3 | c.174A>G (p.Val58=) | dbSNP |
| MT | m.10232A>T | CA913162416 | MT-ND3 | c.174A>T (p.Val58=) | |
| MT | m.10233G>A | CA414804591 | MT-ND3 | c.175G>A (p.Ala59Thr) | |
| MT | m.10233G>C | CA414804593 | MT-ND3 | c.175G>C (p.Ala59Pro) | |
| MT | m.10233G= | CA2573325415 | MT-ND3 | c.175G= (p.Ala59=) | |
| MT | m.10233G>T | CA414804595 | MT-ND3 | c.175G>T (p.Ala59Ser) | |
| MT | m.10234C>A | CA414804597 | MT-ND3 | c.176C>A (p.Ala59Asp) | |
| MT | m.10234C= | CA2573325416 | MT-ND3 | c.176C= (p.Ala59=) | |
| MT | m.10234C>G | CA414804599 | MT-ND3 | c.176C>G (p.Ala59Gly) | |
| MT | m.10234C>T | CA414804601 | MT-ND3 | c.176C>T (p.Ala59Val) | |
| MT | m.10235T>A | CA913162424 | MT-ND3 | c.177T>A (p.Ala59=) | |
| MT | m.10235T>C | CA913162425 | MT-ND3 | c.177T>C (p.Ala59=) | dbSNP |
| MT | m.10235T>G | CA913162426 | MT-ND3 | c.177T>G (p.Ala59=) | |
| MT | m.10235T= | CA2499566657 | MT-ND3 | c.177T= (p.Ala59=) | |
| MT | m.10236A= | CA2499566658 | MT-ND3 | c.178A= (p.Ile60=) | |
| MT | m.10236A>C | CA414804603 | MT-ND3 | c.178A>C (p.Ile60Leu) | |
| MT | m.10236A>G | CA414804604 | MT-ND3 | c.178A>G (p.Ile60Val) | ClinVar dbSNP |
| MT | m.10236A>T | CA414804605 | MT-ND3 | c.178A>T (p.Ile60Phe) | |
| MT | m.10237T>A | CA414804608 | MT-ND3 | c.179T>A (p.Ile60Asn) | |
| MT | m.10237T>C | CA344819 | MT-ND3 | c.179T>C (p.Ile60Thr) | ClinVar dbSNP |
| MT | m.10237T>G | CA414804610 | MT-ND3 | c.179T>G (p.Ile60Ser) | |
| MT | m.10237T= | CA2499566659 | MT-ND3 | c.179T= (p.Ile60=) | |
| MT | m.10238T>A | CA913162442 | MT-ND3 | c.180T>A (p.Ile60=) | |
| MT | m.10238T>C | CA414804614 | MT-ND3 | c.180T>C (p.Ile60=) | dbSNP |
| MT | m.10238T>G | CA414804615 | MT-ND3 | c.180T>G (p.Ile60Met) | |
| MT | m.10238T= | CA2499566660 | MT-ND3 | c.180T= (p.Ile60=) | |
| MT | m.10239A= | CA2573325430 | MT-ND3 | c.181A= (p.Thr61=) | |
| MT | m.10239A>C | CA414804619 | MT-ND3 | c.181A>C (p.Thr61Pro) | |
| MT | m.10239A>G | CA414804621 | MT-ND3 | c.181A>G (p.Thr61Ala) | |
| MT | m.10239A>T | CA414804622 | MT-ND3 | c.181A>T (p.Thr61Ser) | |
| MT | m.10240C>A | CA414804625 | MT-ND3 | c.182C>A (p.Thr61Asn) | |
| MT | m.10240C= | CA2573325434 | MT-ND3 | c.182C= (p.Thr61=) | |
| MT | m.10240C>G | CA414804627 | MT-ND3 | c.182C>G (p.Thr61Ser) | |
| MT | m.10240C>T | CA414804628 | MT-ND3 | c.182C>T (p.Thr61Ile) | |
| MT | m.10241C>A | CA913162446 | MT-ND3 | c.183C>A (p.Thr61=) | |
| MT | m.10241C= | CA2573325438 | MT-ND3 | c.183C= (p.Thr61=) | |
| MT | m.10241C>G | CA913162448 | MT-ND3 | c.183C>G (p.Thr61=) | |
| MT | m.10241C>T | CA913162447 | MT-ND3 | c.183C>T (p.Thr61=) | |
| MT | m.10242T>A | CA414804632 | MT-ND3 | c.184T>A (p.Phe62Ile) | |
| MT | m.10242T>C | CA414804633 | MT-ND3 | c.184T>C (p.Phe62Leu) | |
| MT | m.10242T>G | CA414804636 | MT-ND3 | c.184T>G (p.Phe62Val) | |
| MT | m.10242T= | CA2573325441 | MT-ND3 | c.184T= (p.Phe62=) | |
| MT | m.10243T>A | CA414804639 | MT-ND3 | c.185T>A (p.Phe62Tyr) | |
| MT | m.10243T>C | CA414804641 | MT-ND3 | c.185T>C (p.Phe62Ser) | |
| MT | m.10243T>G | CA414804642 | MT-ND3 | c.185T>G (p.Phe62Cys) | |
| MT | m.10243T= | CA2573325444 | MT-ND3 | c.185T= (p.Phe62=) | |
| MT | m.10244C>A | CA414804647 | MT-ND3 | c.186C>A (p.Phe62Leu) | |
| MT | m.10244C= | CA2499566661 | MT-ND3 | c.186C= (p.Phe62=) | |
| MT | m.10244C>G | CA414804646 | MT-ND3 | c.186C>G (p.Phe62Leu) | |
| MT | m.10244C>T | CA913162458 | MT-ND3 | c.186C>T (p.Phe62=) | dbSNP |
| MT | m.10245T>A | CA414804650 | MT-ND3 | c.187T>A (p.Leu63Ile) | |
| MT | m.10245T>C | CA913162460 | MT-ND3 | c.187T>C (p.Leu63=) | dbSNP |
| MT | m.10245T>G | CA414804652 | MT-ND3 | c.187T>G (p.Leu63Val) | |
| MT | m.10245T= | CA2499566662 | MT-ND3 | c.187T= (p.Leu63=) | |
| MT | m.10246T>A | CA414804653 | MT-ND3 | c.188T>A (p.Leu63Ter) | |
| MT | m.10246T>C | CA414804654 | MT-ND3 | c.188T>C (p.Leu63Ser) | |
| MT | m.10246T>G | CA414804655 | MT-ND3 | c.188T>G (p.Leu63Ter) | |
| MT | m.10246T= | CA2573325453 | MT-ND3 | c.188T= (p.Leu63=) | |
| MT | m.10247A= | CA2499566663 | MT-ND3 | c.189A= (p.Leu63=) | |
| MT | m.10247A>C | CA414804656 | MT-ND3 | c.189A>C (p.Leu63Phe) | |
| MT | m.10247A>G | CA913162474 | MT-ND3 | c.189A>G (p.Leu63=) | dbSNP |
| MT | m.10247A>T | CA414804657 | MT-ND3 | c.189A>T (p.Leu63Phe) | |
| MT | m.10248T>A | CA414804660 | MT-ND3 | c.190T>A (p.Leu64Ile) | |
| MT | m.10248T>C | CA913162477 | MT-ND3 | c.190T>C (p.Leu64=) | dbSNP |
| MT | m.10248T>G | CA414804662 | MT-ND3 | c.190T>G (p.Leu64Val) | |
| MT | m.10248T= | CA2499566664 | MT-ND3 | c.190T= (p.Leu64=) | |
| MT | m.10249T>A | CA414804664 | MT-ND3 | c.191T>A (p.Leu64Ter) | |
| MT | m.10249T>C | CA414804666 | MT-ND3 | c.191T>C (p.Leu64Ser) | |
| MT | m.10249T>G | CA414804668 | MT-ND3 | c.191T>G (p.Leu64Ter) | |
| MT | m.10249T= | CA2573325460 | MT-ND3 | c.191T= (p.Leu64=) | |
| MT | m.10250A= | CA2573325463 | MT-ND3 | c.192A= (p.Leu64=) | |
| MT | m.10250A>C | CA414804670 | MT-ND3 | c.192A>C (p.Leu64Phe) | |
| MT | m.10250A>G | CA913162484 | MT-ND3 | c.192A>G (p.Leu64=) | |
| MT | m.10250A>T | CA414804672 | MT-ND3 | c.192A>T (p.Leu64Phe) | |
| MT | m.10251T>A | CA414804675 | MT-ND3 | c.193T>A (p.Phe65Ile) | |
| MT | m.10251T>C | CA414804677 | MT-ND3 | c.193T>C (p.Phe65Leu) | |
| MT | m.10251T>G | CA414804679 | MT-ND3 | c.193T>G (p.Phe65Val) | |
| MT | m.10251T= | CA2573325468 | MT-ND3 | c.193T= (p.Phe65=) | |
| MT | m.10252T>A | CA414804681 | MT-ND3 | c.194T>A (p.Phe65Tyr) | |
| MT | m.10252T>C | CA414804683 | MT-ND3 | c.194T>C (p.Phe65Ser) | |
| MT | m.10252T>G | CA414804685 | MT-ND3 | c.194T>G (p.Phe65Cys) | |
| MT | m.10252T= | CA2573325471 | MT-ND3 | c.194T= (p.Phe65=) | |
| MT | m.10253T>A | CA414804688 | MT-ND3 | c.195T>A (p.Phe65Leu) | |
| MT | m.10253T>C | CA337098748 | MT-ND3 | c.195T>C (p.Phe65=) | dbSNP |
| MT | m.10253T>G | CA414804690 | MT-ND3 | c.195T>G (p.Phe65Leu) | |
| MT | m.10253T= | CA2499566665 | MT-ND3 | c.195T= (p.Phe65=) | |
| MT | m.10254G>A | CA345916 | MT-ND3 | c.196G>A (p.Asp66Asn) | ClinVar dbSNP |
| MT | m.10254G>C | CA414804694 | MT-ND3 | c.196G>C (p.Asp66His) | |
| MT | m.10254G= | CA2499566666 | MT-ND3 | c.196G= (p.Asp66=) | |
| MT | m.10254G>T | CA414804695 | MT-ND3 | c.196G>T (p.Asp66Tyr) | |
| MT | m.10255A= | CA2573325480 | MT-ND3 | c.197A= (p.Asp66=) | |
| MT | m.10255A>C | CA414804703 | MT-ND3 | c.197A>C (p.Asp66Ala) | |
| MT | m.10255A>G | CA414804699 | MT-ND3 | c.197A>G (p.Asp66Gly) | |
| MT | m.10255A>T | CA414804700 | MT-ND3 | c.197A>T (p.Asp66Val) | |
| MT | m.10256T>A | CA414804705 | MT-ND3 | c.198T>A (p.Asp66Glu) | |
| MT | m.10256T>C | CA913162505 | MT-ND3 | c.198T>C (p.Asp66=) | dbSNP |
| MT | m.10256T>G | CA414804707 | MT-ND3 | c.198T>G (p.Asp66Glu) | |
| MT | m.10256T= | CA2499566667 | MT-ND3 | c.198T= (p.Asp66=) | |
| MT | m.10257C>A | CA414804709 | MT-ND3 | c.199C>A (p.Leu67Ile) | |
| MT | m.10257C= | CA2499566668 | MT-ND3 | c.199C= (p.Leu67=) | |
| MT | m.10257C>G | CA414804711 | MT-ND3 | c.199C>G (p.Leu67Val) | |
| MT | m.10257C>T | CA913162506 | MT-ND3 | c.199C>T (p.Leu67=) | dbSNP |
| MT | m.10258T>A | CA414804715 | MT-ND3 | c.200T>A (p.Leu67Gln) | |
| MT | m.10258T>C | CA414804716 | MT-ND3 | c.200T>C (p.Leu67Pro) | |
| MT | m.10258T>G | CA414804718 | MT-ND3 | c.200T>G (p.Leu67Arg) | |
| MT | m.10258T= | CA2573325489 | MT-ND3 | c.200T= (p.Leu67=) | |
| MT | m.10259A= | CA2499566669 | MT-ND3 | c.201A= (p.Leu67=) | |
| MT | m.10259A>C | CA913162509 | MT-ND3 | c.201A>C (p.Leu67=) | |
| MT | m.10259A>G | CA913162510 | MT-ND3 | c.201A>G (p.Leu67=) | dbSNP |
| MT | m.10259A>T | CA913162512 | MT-ND3 | c.201A>T (p.Leu67=) | |
| MT | m.10260G>A | CA337098752 | MT-ND3 | c.202G>A (p.Glu68Lys) | dbSNP |
| MT | m.10260G>C | CA414804722 | MT-ND3 | c.202G>C (p.Glu68Gln) | |
| MT | m.10260G= | CA2499566670 | MT-ND3 | c.202G= (p.Glu68=) | |
| MT | m.10260G>T | CA414804723 | MT-ND3 | c.202G>T (p.Glu68Ter) | |
| MT | m.10261A= | CA2573325495 | MT-ND3 | c.203A= (p.Glu68=) | |
| MT | m.10261A>C | CA414804730 | MT-ND3 | c.203A>C (p.Glu68Ala) | |
| MT | m.10261A>G | CA414804726 | MT-ND3 | c.203A>G (p.Glu68Gly) | |
| MT | m.10261A>T | CA414804728 | MT-ND3 | c.203A>T (p.Glu68Val) | |
| MT | m.10262A= | CA2499566671 | MT-ND3 | c.204A= (p.Glu68=) | |
| MT | m.10262A>C | CA414804732 | MT-ND3 | c.204A>C (p.Glu68Asp) | |
| MT | m.10262A>G | CA913162520 | MT-ND3 | c.204A>G (p.Glu68=) | dbSNP |
| MT | m.10262A>T | CA414804734 | MT-ND3 | c.204A>T (p.Glu68Asp) | |
| MT | m.10263A= | CA2573325501 | MT-ND3 | c.205A= (p.Ile69=) | |
| MT | m.10263A>C | CA414804737 | MT-ND3 | c.205A>C (p.Ile69Leu) | |
| MT | m.10263A>G | CA414804741 | MT-ND3 | c.205A>G (p.Ile69Val) | |
| MT | m.10263A>T | CA414804739 | MT-ND3 | c.205A>T (p.Ile69Phe) | |
| MT | m.10264T>A | CA414804744 | MT-ND3 | c.206T>A (p.Ile69Asn) | |
| MT | m.10264T>C | CA414804745 | MT-ND3 | c.206T>C (p.Ile69Thr) | |
| MT | m.10264T>G | CA414804748 | MT-ND3 | c.206T>G (p.Ile69Ser) | |
| MT | m.10264T= | CA2573325505 | MT-ND3 | c.206T= (p.Ile69=) | |
| MT | m.10265T>A | CA913162524 | MT-ND3 | c.207T>A (p.Ile69=) | |
| MT | m.10265T>C | CA913162525 | MT-ND3 | c.207T>C (p.Ile69=) | dbSNP |
| MT | m.10265T>G | CA414804750 | MT-ND3 | c.207T>G (p.Ile69Met) | |
| MT | m.10265T= | CA2499566672 | MT-ND3 | c.207T= (p.Ile69=) | |
| MT | m.10266G>A | CA414804753 | MT-ND3 | c.208G>A (p.Ala70Thr) | ClinVar dbSNP |
| MT | m.10266G>C | CA414804754 | MT-ND3 | c.208G>C (p.Ala70Pro) | |
| MT | m.10266G= | CA2499566673 | MT-ND3 | c.208G= (p.Ala70=) | |
| MT | m.10266G>T | CA414804756 | MT-ND3 | c.208G>T (p.Ala70Ser) | |
| MT | m.10267C>A | CA414804759 | MT-ND3 | c.209C>A (p.Ala70Asp) | |
| MT | m.10267C= | CA2573325510 | MT-ND3 | c.209C= (p.Ala70=) | |
| MT | m.10267C>G | CA414804763 | MT-ND3 | c.209C>G (p.Ala70Gly) | |
| MT | m.10267C>T | CA414804760 | MT-ND3 | c.209C>T (p.Ala70Val) | |
| MT | m.10268C>A | CA913162529 | MT-ND3 | c.210C>A (p.Ala70=) | |
| MT | m.10268C= | CA2499566674 | MT-ND3 | c.210C= (p.Ala70=) | |
| MT | m.10268C>G | CA913162530 | MT-ND3 | c.210C>G (p.Ala70=) | |
| MT | m.10268C>T | CA337098754 | MT-ND3 | c.210C>T (p.Ala70=) | dbSNP |
| MT | m.10269C>A | CA414804767 | MT-ND3 | c.211C>A (p.Leu71Ile) | ClinVar dbSNP |
| MT | m.10269C= | CA2499566675 | MT-ND3 | c.211C= (p.Leu71=) | |
| MT | m.10269C>G | CA414804768 | MT-ND3 | c.211C>G (p.Leu71Val) | |
| MT | m.10269C>T | CA414804770 | MT-ND3 | c.211C>T (p.Leu71Phe) | |
| MT | m.10270T>A | CA414804773 | MT-ND3 | c.212T>A (p.Leu71His) | |
| MT | m.10270T>C | CA414804776 | MT-ND3 | c.212T>C (p.Leu71Pro) | |
| MT | m.10270T>G | CA414804775 | MT-ND3 | c.212T>G (p.Leu71Arg) | |
| MT | m.10270T= | CA2573325520 | MT-ND3 | c.212T= (p.Leu71=) | |
| MT | m.10271C>A | CA913162534 | MT-ND3 | c.213C>A (p.Leu71=) | dbSNP |
| MT | m.10271C= | CA2499566676 | MT-ND3 | c.213C= (p.Leu71=) | |
| MT | m.10271C>G | CA913162536 | MT-ND3 | c.213C>G (p.Leu71=) | |
| MT | m.10271C>T | CA913162537 | MT-ND3 | c.213C>T (p.Leu71=) | |
| MT | m.10272C>A | CA414804779 | MT-ND3 | c.214C>A (p.Leu72Ile) | |
| MT | m.10272C= | CA2573325524 | MT-ND3 | c.214C= (p.Leu72=) | |
| MT | m.10272C>G | CA414804780 | MT-ND3 | c.214C>G (p.Leu72Val) | |
| MT | m.10272C>T | CA414804783 | MT-ND3 | c.214C>T (p.Leu72Phe) | |
| MT | m.10273T>A | CA414804786 | MT-ND3 | c.215T>A (p.Leu72His) | |
| MT | m.10273T>C | CA414804788 | MT-ND3 | c.215T>C (p.Leu72Pro) | |
| MT | m.10273T>G | CA414804790 | MT-ND3 | c.215T>G (p.Leu72Arg) | |
| MT | m.10273T= | CA2573325528 | MT-ND3 | c.215T= (p.Leu72=) | |
| MT | m.10274T>A | CA913162543 | MT-ND3 | c.216T>A (p.Leu72=) | |
| MT | m.10274T>C | CA337098757 | MT-ND3 | c.216T>C (p.Leu72=) | dbSNP |
| MT | m.10274T>G | CA913162542 | MT-ND3 | c.216T>G (p.Leu72=) | |
| MT | m.10274T= | CA2499566677 | MT-ND3 | c.216T= (p.Leu72=) | |
| MT | m.10275T>A | CA414804794 | MT-ND3 | c.217T>A (p.Leu73Ile) | |
| MT | m.10275T>C | CA337098758 | MT-ND3 | c.217T>C (p.Leu73=) | dbSNP |
| MT | m.10275T>G | CA414804797 | MT-ND3 | c.217T>G (p.Leu73Val) | |
| MT | m.10275T= | CA2499566678 | MT-ND3 | c.217T= (p.Leu73=) | |
| MT | m.10276T>A | CA414804800 | MT-ND3 | c.218T>A (p.Leu73Ter) | |
| MT | m.10276T>C | CA414804804 | MT-ND3 | c.218T>C (p.Leu73Ser) | |
| MT | m.10276T>G | CA414804802 | MT-ND3 | c.218T>G (p.Leu73Ter) | |
| MT | m.10276T= | CA2573325538 | MT-ND3 | c.218T= (p.Leu73=) | |
| MT | m.10277A= | CA2499566679 | MT-ND3 | c.219A= (p.Leu73=) | |
| MT | m.10277A>C | CA414804806 | MT-ND3 | c.219A>C (p.Leu73Phe) | dbSNP |
| MT | m.10277A>G | CA913162550 | MT-ND3 | c.219A>G (p.Leu73=) | |
| MT | m.10277A>T | CA414804808 | MT-ND3 | c.219A>T (p.Leu73Phe) | |
| MT | m.10278C>A | CA414804810 | MT-ND3 | c.220C>A (p.Pro74Thr) | |
| MT | m.10278C= | CA2573325543 | MT-ND3 | c.220C= (p.Pro74=) | |
| MT | m.10278C>G | CA414804812 | MT-ND3 | c.220C>G (p.Pro74Ala) | |
| MT | m.10278C>T | CA414804814 | MT-ND3 | c.220C>T (p.Pro74Ser) | |
| MT | m.10279C>A | CA414804817 | MT-ND3 | c.221C>A (p.Pro74His) | |
| MT | m.10279C= | CA2573325547 | MT-ND3 | c.221C= (p.Pro74=) | |
| MT | m.10279C>G | CA414804818 | MT-ND3 | c.221C>G (p.Pro74Arg) | |
| MT | m.10279C>T | CA414804820 | MT-ND3 | c.221C>T (p.Pro74Leu) | |
| MT | m.10280C>A | CA913162560 | MT-ND3 | c.222C>A (p.Pro74=) | |
| MT | m.10280C= | CA2573325549 | MT-ND3 | c.222C= (p.Pro74=) | |
| MT | m.10280C>G | CA913162565 | MT-ND3 | c.222C>G (p.Pro74=) | |
| MT | m.10280C>T | CA913162562 | MT-ND3 | c.222C>T (p.Pro74=) | |
| MT | m.10281C>A | CA414804823 | MT-ND3 | c.223C>A (p.Leu75Ile) | |
| MT | m.10281C= | CA2499566680 | MT-ND3 | c.223C= (p.Leu75=) | |
| MT | m.10281C>G | CA414804824 | MT-ND3 | c.223C>G (p.Leu75Val) | |
| MT | m.10281C>T | CA913162571 | MT-ND3 | c.223C>T (p.Leu75=) | dbSNP |
| MT | m.10282T>A | CA414804831 | MT-ND3 | c.224T>A (p.Leu75Gln) | |
| MT | m.10282T>C | CA414804829 | MT-ND3 | c.224T>C (p.Leu75Pro) | |
| MT | m.10282T>G | CA414804828 | MT-ND3 | c.224T>G (p.Leu75Arg) | |
| MT | m.10282T= | CA2573325553 | MT-ND3 | c.224T= (p.Leu75=) | |
| MT | m.10283A= | CA2499566681 | MT-ND3 | c.225A= (p.Leu75=) | |
| MT | m.10283A>C | CA913162575 | MT-ND3 | c.225A>C (p.Leu75=) | |
| MT | m.10283A>G | CA913162576 | MT-ND3 | c.225A>G (p.Leu75=) | dbSNP |
| MT | m.10283A>T | CA913162574 | MT-ND3 | c.225A>T (p.Leu75=) | |
| MT | m.10284C>A | CA414804834 | MT-ND3 | c.226C>A (p.Pro76Thr) | |
| MT | m.10284C= | CA2573325556 | MT-ND3 | c.226C= (p.Pro76=) | |
| MT | m.10284C>G | CA414804836 | MT-ND3 | c.226C>G (p.Pro76Ala) | |
| MT | m.10284C>T | CA414804838 | MT-ND3 | c.226C>T (p.Pro76Ser) | |
| MT | m.10285C>A | CA414804840 | MT-ND3 | c.227C>A (p.Pro76Gln) | |
| MT | m.10285C= | CA2573325559 | MT-ND3 | c.227C= (p.Pro76=) | |
| MT | m.10285C>G | CA414804842 | MT-ND3 | c.227C>G (p.Pro76Arg) | |
| MT | m.10285C>T | CA414804844 | MT-ND3 | c.227C>T (p.Pro76Leu) | |
| MT | m.10286A= | CA2499566682 | MT-ND3 | c.228A= (p.Pro76=) | |
| MT | m.10286A>C | CA913162585 | MT-ND3 | c.228A>C (p.Pro76=) | |
| MT | m.10286A>G | CA913162583 | MT-ND3 | c.228A>G (p.Pro76=) | dbSNP |
| MT | m.10286A>T | CA913162584 | MT-ND3 | c.228A>T (p.Pro76=) | |
| MT | m.10287T>A | CA414804847 | MT-ND3 | c.229T>A (p.Ter77Arg) | |
| MT | m.10287T>C | CA414804849 | MT-ND3 | c.229T>C (p.Ter77Arg) | |
| MT | m.10287T>G | CA414804850 | MT-ND3 | c.229T>G (p.Ter77Gly) | |
| MT | m.10287T= | CA414804852 | MT-ND3 | c.229T= (p.Ter77=) | |
| MT | m.10288G>A | CA414804859 | MT-ND3 | c.230G>A (p.Ter77=) | |
| MT | m.10288G>C | CA414804857 | MT-ND3 | c.230G>C (p.Ter77Ser) | |
| MT | m.10288G= | CA414804861 | MT-ND3 | c.230G= (p.Ter77=) | |
| MT | m.10288G>T | CA414804855 | MT-ND3 | c.230G>T (p.Ter77Leu) | |
| MT | m.10289A= | CA414804864 | MT-ND3 | c.231A= (p.Ter77=) | |
| MT | m.10289A>C | CA414804866 | MT-ND3 | c.231A>C (p.Ter77Cys) | |
| MT | m.10289A>G | CA414804868 | MT-ND3 | c.231A>G (p.Ter77Trp) | dbSNP |
| MT | m.10289A>T | CA414804870 | MT-ND3 | c.231A>T (p.Ter77Cys) | |
| MT | m.10290G>A | CA414804872 | MT-ND3 | c.232G>A (p.Ala78Thr) | dbSNP |
| MT | m.10290G>C | CA414804874 | MT-ND3 | c.232G>C (p.Ala78Pro) | |
| MT | m.10290G= | CA2499566683 | MT-ND3 | c.232G= (p.Ala78=) | |
| MT | m.10290G>T | CA414804876 | MT-ND3 | c.232G>T (p.Ala78Ser) | |
| MT | m.10291C>A | CA414804879 | MT-ND3 | c.233C>A (p.Ala78Asp) | |
| MT | m.10291C= | CA2573325571 | MT-ND3 | c.233C= (p.Ala78=) | |
| MT | m.10291C>G | CA414804880 | MT-ND3 | c.233C>G (p.Ala78Gly) | |
| MT | m.10291C>T | CA414804882 | MT-ND3 | c.233C>T (p.Ala78Val) | |
| MT | m.10292C>A | CA913162606 | MT-ND3 | c.234C>A (p.Ala78=) | |
| MT | m.10292C= | CA2573325576 | MT-ND3 | c.234C= (p.Ala78=) | |
| MT | m.10292C>G | CA913162594 | MT-ND3 | c.234C>G (p.Ala78=) | |
| MT | m.10292C>T | CA913162604 | MT-ND3 | c.234C>T (p.Ala78=) | |
| MT | m.10293C>A | CA414804885 | MT-ND3 | c.235C>A (p.Leu79Ile) | |
| MT | m.10293C= | CA2573325578 | MT-ND3 | c.235C= (p.Leu79=) | |
| MT | m.10293C>G | CA414804886 | MT-ND3 | c.235C>G (p.Leu79Val) | |
| MT | m.10293C>T | CA913162609 | MT-ND3 | c.235C>T (p.Leu79=) | |
| MT | m.10294T>A | CA414804893 | MT-ND3 | c.236T>A (p.Leu79Gln) | |
| MT | m.10294T>C | CA414804890 | MT-ND3 | c.236T>C (p.Leu79Pro) | dbSNP |
| MT | m.10294T>G | CA414804891 | MT-ND3 | c.236T>G (p.Leu79Arg) | |
| MT | m.10294T= | CA2499566684 | MT-ND3 | c.236T= (p.Leu79=) | |
| MT | m.10295A= | CA2499566685 | MT-ND3 | c.237A= (p.Leu79=) | |
| MT | m.10295A>C | CA913162614 | MT-ND3 | c.237A>C (p.Leu79=) | |
| MT | m.10295A>G | CA913162611 | MT-ND3 | c.237A>G (p.Leu79=) | dbSNP |
| MT | m.10295A>T | CA913162613 | MT-ND3 | c.237A>T (p.Leu79=) | |
| MT | m.10296C>A | CA414804895 | MT-ND3 | c.238C>A (p.Gln80Lys) | |
| MT | m.10296C= | CA2573325583 | MT-ND3 | c.238C= (p.Gln80=) | |
| MT | m.10296C>G | CA414804897 | MT-ND3 | c.238C>G (p.Gln80Glu) | |
| MT | m.10296C>T | CA414804899 | MT-ND3 | c.238C>T (p.Gln80Ter) | |
| MT | m.10297A= | CA2573325585 | MT-ND3 | c.239A= (p.Gln80=) | |
| MT | m.10297A>C | CA414804903 | MT-ND3 | c.239A>C (p.Gln80Pro) | |
| MT | m.10297A>G | CA414804904 | MT-ND3 | c.239A>G (p.Gln80Arg) | |
| MT | m.10297A>T | CA414804906 | MT-ND3 | c.239A>T (p.Gln80Leu) | |
| MT | m.10298A= | CA2573325588 | MT-ND3 | c.240A= (p.Gln80=) | |
| MT | m.10298A>C | CA414804909 | MT-ND3 | c.240A>C (p.Gln80His) | |
| MT | m.10298A>G | CA913162619 | MT-ND3 | c.240A>G (p.Gln80=) | |
| MT | m.10298A>T | CA414804910 | MT-ND3 | c.240A>T (p.Gln80His) | |
| MT | m.10299A= | CA2499566686 | MT-ND3 | c.241A= (p.Thr81=) | |
| MT | m.10299A>C | CA414804913 | MT-ND3 | c.241A>C (p.Thr81Pro) | |
| MT | m.10299A>G | CA414804915 | MT-ND3 | c.241A>G (p.Thr81Ala) | |
| MT | m.10299A>T | CA337098759 | MT-ND3 | c.241A>T (p.Thr81Ser) | dbSNP |
| MT | m.10300C>A | CA414804918 | MT-ND3 | c.242C>A (p.Thr81Lys) | |
| MT | m.10300C= | CA2573325591 | MT-ND3 | c.242C= (p.Thr81=) | |
| MT | m.10300C>G | CA414804922 | MT-ND3 | c.242C>G (p.Thr81Arg) | |
| MT | m.10300C>T | CA414804920 | MT-ND3 | c.242C>T (p.Thr81Ile) | |
| MT | m.10301A= | CA2499566687 | MT-ND3 | c.243A= (p.Thr81=) | |
| MT | m.10301A>C | CA913162633 | MT-ND3 | c.243A>C (p.Thr81=) | |
| MT | m.10301A>G | CA913162634 | MT-ND3 | c.243A>G (p.Thr81=) | dbSNP |
| MT | m.10301A>T | CA913162635 | MT-ND3 | c.243A>T (p.Thr81=) | |
| MT | m.10301_10302insCATAGACACAAATACATAGACACACACACACACATTCACATAGACACACACAGAC | CA2740098334 | MT-ND3 | c.243_244insCATAGACACAAATACATAGACACACACACACACATTCACATAGACACACACAGAC (p.Thr82HisfsTer20) | |
| MT | m.10302A= | CA2499566688 | MT-ND3 | c.244A= (p.Thr82=) | |
| MT | m.10302A>C | CA414804924 | MT-ND3 | c.244A>C (p.Thr82Pro) | |
| MT | m.10302A>G | CA414804927 | MT-ND3 | c.244A>G (p.Thr82Ala) | dbSNP |
| MT | m.10302A>T | CA414804929 | MT-ND3 | c.244A>T (p.Thr82Ser) | |
| MT | m.10303C>A | CA414804932 | MT-ND3 | c.245C>A (p.Thr82Asn) | |
| MT | m.10303C= | CA2513197900 | MT-ND3 | c.245C= (p.Thr82=) | |
| MT | m.10303C>G | CA414804934 | MT-ND3 | c.245C>G (p.Thr82Ser) | |
| MT | m.10303C>T | CA414804935 | MT-ND3 | c.245C>T (p.Thr82Ile) | |
| MT | m.10303dup | CA2573105059 | MT-ND3 | c.245dup (p.Asn83Ter) | |
| MT | m.10304T>A | CA913162636 | MT-ND3 | c.246T>A (p.Thr82=) | |
| MT | m.10304T>C | CA337098762 | MT-ND3 | c.246T>C (p.Thr82=) | dbSNP |
| MT | m.10304T>G | CA913162637 | MT-ND3 | c.246T>G (p.Thr82=) | |
| MT | m.10304T= | CA2499566689 | MT-ND3 | c.246T= (p.Thr82=) | |
| MT | m.10305A= | CA2573325601 | MT-ND3 | c.247A= (p.Asn83=) | |
| MT | m.10305A>C | CA414804940 | MT-ND3 | c.247A>C (p.Asn83His) | |
| MT | m.10305A>G | CA414804942 | MT-ND3 | c.247A>G (p.Asn83Asp) | |
| MT | m.10305A>T | CA414804944 | MT-ND3 | c.247A>T (p.Asn83Tyr) | |
| MT | m.10306A= | CA2499566690 | MT-ND3 | c.248A= (p.Asn83=) | |
| MT | m.10306A>C | CA414804949 | MT-ND3 | c.248A>C (p.Asn83Thr) | dbSNP |
| MT | m.10306A>G | CA414804947 | MT-ND3 | c.248A>G (p.Asn83Ser) | |
| MT | m.10306A>T | CA414804946 | MT-ND3 | c.248A>T (p.Asn83Ile) | |
| MT | m.10307C>A | CA414804952 | MT-ND3 | c.249C>A (p.Asn83Lys) | |
| MT | m.10307C= | CA2499566691 | MT-ND3 | c.249C= (p.Asn83=) | |
| MT | m.10307C>G | CA414804954 | MT-ND3 | c.249C>G (p.Asn83Lys) | |
| MT | m.10307C>T | CA337098766 | MT-ND3 | c.249C>T (p.Asn83=) | dbSNP |
| MT | m.10308C>A | CA414804957 | MT-ND3 | c.250C>A (p.Leu84Met) | |
| MT | m.10308C= | CA2499566692 | MT-ND3 | c.250C= (p.Leu84=) | |
| MT | m.10308C>G | CA414804959 | MT-ND3 | c.250C>G (p.Leu84Val) | |
| MT | m.10308C>T | CA913162649 | MT-ND3 | c.250C>T (p.Leu84=) | dbSNP |
| MT | m.10309T>A | CA414804961 | MT-ND3 | c.251T>A (p.Leu84Gln) | |
| MT | m.10309T>C | CA414804964 | MT-ND3 | c.251T>C (p.Leu84Pro) | |
| MT | m.10309T>G | CA414804965 | MT-ND3 | c.251T>G (p.Leu84Arg) | |
| MT | m.10309T= | CA2573325609 | MT-ND3 | c.251T= (p.Leu84=) |