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.6372T>A | CA414783536 | MT-CO1 | c.469T>A (p.Ser157Thr) | |
| MT | m.6372T>C | CA414783539 | MT-CO1 | c.469T>C (p.Ser157Pro) | |
| MT | m.6372T>G | CA414783541 | MT-CO1 | c.469T>G (p.Ser157Ala) | |
| MT | m.6372T= | CA2573324599 | MT-CO1 | c.469T= (p.Ser157=) | |
| MT | m.6373C>A | CA414783549 | MT-CO1 | c.470C>A (p.Ser157Tyr) | |
| MT | m.6373C= | CA2513135149 | MT-CO1 | c.470C= (p.Ser157=) | |
| MT | m.6373C>G | CA414783544 | MT-CO1 | c.470C>G (p.Ser157Cys) | |
| MT | m.6373C>T | CA414783547 | MT-CO1 | c.470C>T (p.Ser157Phe) | |
| MT | m.6374T>A | CA913181351 | MT-CO1 | c.471T>A (p.Ser157=) | |
| MT | m.6374T>C | CA913181352 | MT-CO1 | c.471T>C (p.Ser157=) | dbSNP |
| MT | m.6374T>G | CA913181353 | MT-CO1 | c.471T>G (p.Ser157=) | |
| MT | m.6374T= | CA2499564368 | MT-CO1 | c.471T= (p.Ser157=) | |
| MT | m.6375A= | CA2499564370 | MT-CO1 | c.472A= (p.Ile158=) | |
| MT | m.6375A>C | CA414783552 | MT-CO1 | c.472A>C (p.Ile158Leu) | |
| MT | m.6375A>G | CA414783555 | MT-CO1 | c.472A>G (p.Ile158Val) | dbSNP |
| MT | m.6375A>T | CA414783557 | MT-CO1 | c.472A>T (p.Ile158Phe) | |
| MT | m.6376T>A | CA414783561 | MT-CO1 | c.473T>A (p.Ile158Asn) | |
| MT | m.6376T>C | CA414783563 | MT-CO1 | c.473T>C (p.Ile158Thr) | |
| MT | m.6376T>G | CA414783566 | MT-CO1 | c.473T>G (p.Ile158Ser) | |
| MT | m.6376T= | CA2512993043 | MT-CO1 | c.473T= (p.Ile158=) | |
| MT | m.6377C>A | CA913181358 | MT-CO1 | c.474C>A (p.Ile158=) | |
| MT | m.6377C= | CA2499564371 | MT-CO1 | c.474C= (p.Ile158=) | |
| MT | m.6377C>G | CA414783569 | MT-CO1 | c.474C>G (p.Ile158Met) | |
| MT | m.6377C>T | CA913181359 | MT-CO1 | c.474C>T (p.Ile158=) | dbSNP |
| MT | m.6378T>A | CA414783573 | MT-CO1 | c.475T>A (p.Leu159Ile) | |
| MT | m.6378T>C | CA913181360 | MT-CO1 | c.475T>C (p.Leu159=) | dbSNP |
| MT | m.6378T>G | CA414783575 | MT-CO1 | c.475T>G (p.Leu159Val) | |
| MT | m.6378T= | CA2499564373 | MT-CO1 | c.475T= (p.Leu159=) | |
| MT | m.6379T>A | CA414783580 | MT-CO1 | c.476T>A (p.Leu159Ter) | |
| MT | m.6379T>C | CA414783583 | MT-CO1 | c.476T>C (p.Leu159Ser) | |
| MT | m.6379T>G | CA414783578 | MT-CO1 | c.476T>G (p.Leu159Ter) | |
| MT | m.6379T= | CA2573324613 | MT-CO1 | c.476T= (p.Leu159=) | |
| MT | m.6380A= | CA2499564374 | MT-CO1 | c.477A= (p.Leu159=) | |
| MT | m.6380A>C | CA414783587 | MT-CO1 | c.477A>C (p.Leu159Phe) | |
| MT | m.6380A>G | CA913181361 | MT-CO1 | c.477A>G (p.Leu159=) | dbSNP |
| MT | m.6380A>T | CA414783589 | MT-CO1 | c.477A>T (p.Leu159Phe) | |
| MT | m.6381G>A | CA414783592 | MT-CO1 | c.478G>A (p.Gly160Arg) | |
| MT | m.6381G>C | CA414783595 | MT-CO1 | c.478G>C (p.Gly160Arg) | |
| MT | m.6381G= | CA2573324619 | MT-CO1 | c.478G= (p.Gly160=) | |
| MT | m.6381G>T | CA414783598 | MT-CO1 | c.478G>T (p.Gly160Trp) | |
| MT | m.6382G>A | CA414783600 | MT-CO1 | c.479G>A (p.Gly160Glu) | |
| MT | m.6382G>C | CA414783603 | MT-CO1 | c.479G>C (p.Gly160Ala) | |
| MT | m.6382G= | CA2573324621 | MT-CO1 | c.479G= (p.Gly160=) | |
| MT | m.6382G>T | CA414783607 | MT-CO1 | c.479G>T (p.Gly160Val) | |
| MT | m.6383G>A | CA337097388 | MT-CO1 | c.480G>A (p.Gly160=) | dbSNP |
| MT | m.6383G>C | CA913181362 | MT-CO1 | c.480G>C (p.Gly160=) | |
| MT | m.6383G= | CA2499564376 | MT-CO1 | c.480G= (p.Gly160=) | |
| MT | m.6383G>T | CA913181363 | MT-CO1 | c.480G>T (p.Gly160=) | |
| MT | m.6384G>A | CA414783613 | MT-CO1 | c.481G>A (p.Ala161Thr) | dbSNP |
| MT | m.6384G>C | CA414783615 | MT-CO1 | c.481G>C (p.Ala161Pro) | |
| MT | m.6384G= | CA2499564377 | MT-CO1 | c.481G= (p.Ala161=) | |
| MT | m.6384G>T | CA414783617 | MT-CO1 | c.481G>T (p.Ala161Ser) | |
| MT | m.6385C>A | CA414783620 | MT-CO1 | c.482C>A (p.Ala161Asp) | |
| MT | m.6385C= | CA2573324627 | MT-CO1 | c.482C= (p.Ala161=) | |
| MT | m.6385C>G | CA414783625 | MT-CO1 | c.482C>G (p.Ala161Gly) | |
| MT | m.6385C>T | CA414783623 | MT-CO1 | c.482C>T (p.Ala161Val) | |
| MT | m.6386C>A | CA913181366 | MT-CO1 | c.483C>A (p.Ala161=) | |
| MT | m.6386C= | CA2499564379 | MT-CO1 | c.483C= (p.Ala161=) | |
| MT | m.6386C>G | CA913181369 | MT-CO1 | c.483C>G (p.Ala161=) | |
| MT | m.6386C>T | CA913181367 | MT-CO1 | c.483C>T (p.Ala161=) | dbSNP |
| MT | m.6387A= | CA2573324631 | MT-CO1 | c.484A= (p.Ile162=) | |
| MT | m.6387A>C | CA414783628 | MT-CO1 | c.484A>C (p.Ile162Leu) | |
| MT | m.6387A>G | CA414783631 | MT-CO1 | c.484A>G (p.Ile162Val) | |
| MT | m.6387A>T | CA414783634 | MT-CO1 | c.484A>T (p.Ile162Phe) | |
| MT | m.6388T>A | CA414783638 | MT-CO1 | c.485T>A (p.Ile162Asn) | |
| MT | m.6388T>C | CA414783641 | MT-CO1 | c.485T>C (p.Ile162Thr) | |
| MT | m.6388T>G | CA414783642 | MT-CO1 | c.485T>G (p.Ile162Ser) | |
| MT | m.6388T= | CA2573324636 | MT-CO1 | c.485T= (p.Ile162=) | |
| MT | m.6389C>A | CA913181371 | MT-CO1 | c.486C>A (p.Ile162=) | |
| MT | m.6389C= | CA2499564380 | MT-CO1 | c.486C= (p.Ile162=) | |
| MT | m.6389C>G | CA414783645 | MT-CO1 | c.486C>G (p.Ile162Met) | |
| MT | m.6389C>T | CA913181370 | MT-CO1 | c.486C>T (p.Ile162=) | dbSNP |
| MT | m.6390A= | CA2573324644 | MT-CO1 | c.487A= (p.Asn163=) | |
| MT | m.6390A>C | CA414783649 | MT-CO1 | c.487A>C (p.Asn163His) | |
| MT | m.6390A>G | CA414783652 | MT-CO1 | c.487A>G (p.Asn163Asp) | |
| MT | m.6390A>T | CA414783654 | MT-CO1 | c.487A>T (p.Asn163Tyr) | |
| MT | m.6391A= | CA2573324646 | MT-CO1 | c.488A= (p.Asn163=) | |
| MT | m.6391A>C | CA414783663 | MT-CO1 | c.488A>C (p.Asn163Thr) | |
| MT | m.6391A>G | CA414783660 | MT-CO1 | c.488A>G (p.Asn163Ser) | |
| MT | m.6391A>T | CA414783658 | MT-CO1 | c.488A>T (p.Asn163Ile) | |
| MT | m.6392T>A | CA414783667 | MT-CO1 | c.489T>A (p.Asn163Lys) | |
| MT | m.6392T>C | CA337097390 | MT-CO1 | c.489T>C (p.Asn163=) | dbSNP |
| MT | m.6392T>G | CA414783669 | MT-CO1 | c.489T>G (p.Asn163Lys) | |
| MT | m.6392T= | CA2499564381 | MT-CO1 | c.489T= (p.Asn163=) | |
| MT | m.6393T>A | CA414783675 | MT-CO1 | c.490T>A (p.Phe164Ile) | |
| MT | m.6393T>C | CA337097392 | MT-CO1 | c.490T>C (p.Phe164Leu) | ClinVar dbSNP |
| MT | m.6393T>G | CA414783679 | MT-CO1 | c.490T>G (p.Phe164Val) | |
| MT | m.6393T= | CA2499564383 | MT-CO1 | c.490T= (p.Phe164=) | |
| MT | m.6394T>A | CA414783683 | MT-CO1 | c.491T>A (p.Phe164Tyr) | |
| MT | m.6394T>C | CA414783686 | MT-CO1 | c.491T>C (p.Phe164Ser) | |
| MT | m.6394T>G | CA414783688 | MT-CO1 | c.491T>G (p.Phe164Cys) | |
| MT | m.6394T= | CA2573324659 | MT-CO1 | c.491T= (p.Phe164=) | |
| MT | m.6395C>A | CA414783691 | MT-CO1 | c.492C>A (p.Phe164Leu) | |
| MT | m.6395C= | CA2499564385 | MT-CO1 | c.492C= (p.Phe164=) | |
| MT | m.6395C>G | CA414783694 | MT-CO1 | c.492C>G (p.Phe164Leu) | |
| MT | m.6395C>T | CA913181374 | MT-CO1 | c.492C>T (p.Phe164=) | dbSNP |
| MT | m.6396A= | CA2573324667 | MT-CO1 | c.493A= (p.Ile165=) | |
| MT | m.6396A>C | CA414783697 | MT-CO1 | c.493A>C (p.Ile165Leu) | |
| MT | m.6396A>G | CA414783700 | MT-CO1 | c.493A>G (p.Ile165Val) | |
| MT | m.6396A>T | CA414783703 | MT-CO1 | c.493A>T (p.Ile165Phe) | |
| MT | m.6397T>A | CA414783706 | MT-CO1 | c.494T>A (p.Ile165Asn) | |
| MT | m.6397T>C | CA414783712 | MT-CO1 | c.494T>C (p.Ile165Thr) | |
| MT | m.6397T>G | CA414783709 | MT-CO1 | c.494T>G (p.Ile165Ser) | |
| MT | m.6397T= | CA2573324674 | MT-CO1 | c.494T= (p.Ile165=) | |
| MT | m.6398C>A | CA913181376 | MT-CO1 | c.495C>A (p.Ile165=) | |
| MT | m.6398C= | CA2499564386 | MT-CO1 | c.495C= (p.Ile165=) | |
| MT | m.6398C>G | CA414783715 | MT-CO1 | c.495C>G (p.Ile165Met) | |
| MT | m.6398C>T | CA913181377 | MT-CO1 | c.495C>T (p.Ile165=) | dbSNP |
| MT | m.6399A= | CA2573324678 | MT-CO1 | c.496A= (p.Thr166=) | |
| MT | m.6399A>C | CA414783718 | MT-CO1 | c.496A>C (p.Thr166Pro) | |
| MT | m.6399A>G | CA414783720 | MT-CO1 | c.496A>G (p.Thr166Ala) | |
| MT | m.6399A>T | CA414783721 | MT-CO1 | c.496A>T (p.Thr166Ser) | |
| MT | m.6400C>A | CA414783727 | MT-CO1 | c.497C>A (p.Thr166Lys) | |
| MT | m.6400C= | CA2573324682 | MT-CO1 | c.497C= (p.Thr166=) | |
| MT | m.6400C>G | CA414783729 | MT-CO1 | c.497C>G (p.Thr166Arg) | |
| MT | m.6400C>T | CA414783732 | MT-CO1 | c.497C>T (p.Thr166Ile) | |
| MT | m.6401A= | CA2499564388 | MT-CO1 | c.498A= (p.Thr166=) | |
| MT | m.6401A>C | CA913181378 | MT-CO1 | c.498A>C (p.Thr166=) | |
| MT | m.6401A>G | CA337097394 | MT-CO1 | c.498A>G (p.Thr166=) | dbSNP |
| MT | m.6401A>T | CA913181379 | MT-CO1 | c.498A>T (p.Thr166=) | |
| MT | m.6402A= | CA2573324688 | MT-CO1 | c.499A= (p.Thr167=) | |
| MT | m.6402A>C | CA414783742 | MT-CO1 | c.499A>C (p.Thr167Pro) | |
| MT | m.6402A>G | CA414783745 | MT-CO1 | c.499A>G (p.Thr167Ala) | |
| MT | m.6402A>T | CA414783739 | MT-CO1 | c.499A>T (p.Thr167Ser) | |
| MT | m.6403C>A | CA414783749 | MT-CO1 | c.500C>A (p.Thr167Lys) | |
| MT | m.6403C= | CA2573324694 | MT-CO1 | c.500C= (p.Thr167=) | |
| MT | m.6403C>G | CA414783751 | MT-CO1 | c.500C>G (p.Thr167Arg) | |
| MT | m.6403C>T | CA414783754 | MT-CO1 | c.500C>T (p.Thr167Ile) | |
| MT | m.6404A= | CA2573324696 | MT-CO1 | c.501A= (p.Thr167=) | |
| MT | m.6404A>C | CA913181383 | MT-CO1 | c.501A>C (p.Thr167=) | |
| MT | m.6404A>G | CA913181381 | MT-CO1 | c.501A>G (p.Thr167=) | |
| MT | m.6404A>T | CA913181380 | MT-CO1 | c.501A>T (p.Thr167=) | |
| MT | m.6405A= | CA2573324697 | MT-CO1 | c.502A= (p.Ile168=) | |
| MT | m.6405A>C | CA414783758 | MT-CO1 | c.502A>C (p.Ile168Leu) | |
| MT | m.6405A>G | CA414783760 | MT-CO1 | c.502A>G (p.Ile168Val) | |
| MT | m.6405A>T | CA414783763 | MT-CO1 | c.502A>T (p.Ile168Phe) | |
| MT | m.6406T>A | CA414783765 | MT-CO1 | c.503T>A (p.Ile168Asn) | |
| MT | m.6406T>C | CA414783771 | MT-CO1 | c.503T>C (p.Ile168Thr) | |
| MT | m.6406T>G | CA414783768 | MT-CO1 | c.503T>G (p.Ile168Ser) | |
| MT | m.6406T= | CA2573324701 | MT-CO1 | c.503T= (p.Ile168=) | |
| MT | m.6407T>A | CA913181386 | MT-CO1 | c.504T>A (p.Ile168=) | |
| MT | m.6407T>C | CA913181387 | MT-CO1 | c.504T>C (p.Ile168=) | dbSNP |
| MT | m.6407T>G | CA414783774 | MT-CO1 | c.504T>G (p.Ile168Met) | |
| MT | m.6407T= | CA2499564390 | MT-CO1 | c.504T= (p.Ile168=) | |
| MT | m.6408A= | CA2499564391 | MT-CO1 | c.505A= (p.Ile169=) | |
| MT | m.6408A>C | CA414783775 | MT-CO1 | c.505A>C (p.Ile169Leu) | |
| MT | m.6408A>G | CA414783779 | MT-CO1 | c.505A>G (p.Ile169Val) | dbSNP |
| MT | m.6408A>T | CA414783782 | MT-CO1 | c.505A>T (p.Ile169Phe) | |
| MT | m.6409T>A | CA414783786 | MT-CO1 | c.506T>A (p.Ile169Asn) | |
| MT | m.6409T>C | CA414783791 | MT-CO1 | c.506T>C (p.Ile169Thr) | |
| MT | m.6409T>G | CA414783789 | MT-CO1 | c.506T>G (p.Ile169Ser) | |
| MT | m.6409T= | CA2513210053 | MT-CO1 | c.506T= (p.Ile169=) | |
| MT | m.6410C>A | CA913181389 | MT-CO1 | c.507C>A (p.Ile169=) | |
| MT | m.6410C= | CA2499564393 | MT-CO1 | c.507C= (p.Ile169=) | |
| MT | m.6410C>G | CA414783794 | MT-CO1 | c.507C>G (p.Ile169Met) | |
| MT | m.6410C>T | CA913181388 | MT-CO1 | c.507C>T (p.Ile169=) | dbSNP |
| MT | m.6411A= | CA2573324718 | MT-CO1 | c.508A= (p.Asn170=) | |
| MT | m.6411A>C | CA414783797 | MT-CO1 | c.508A>C (p.Asn170His) | |
| MT | m.6411A>G | CA414783800 | MT-CO1 | c.508A>G (p.Asn170Asp) | |
| MT | m.6411A>T | CA414783802 | MT-CO1 | c.508A>T (p.Asn170Tyr) | |
| MT | m.6412A= | CA2573324720 | MT-CO1 | c.509A= (p.Asn170=) | |
| MT | m.6412A>C | CA414783806 | MT-CO1 | c.509A>C (p.Asn170Thr) | |
| MT | m.6412A>G | CA414783809 | MT-CO1 | c.509A>G (p.Asn170Ser) | |
| MT | m.6412A>T | CA414783811 | MT-CO1 | c.509A>T (p.Asn170Ile) | |
| MT | m.6413T>A | CA414783815 | MT-CO1 | c.510T>A (p.Asn170Lys) | |
| MT | m.6413T>C | CA337097396 | MT-CO1 | c.510T>C (p.Asn170=) | dbSNP |
| MT | m.6413T>G | CA414783818 | MT-CO1 | c.510T>G (p.Asn170Lys) | |
| MT | m.6413T= | CA2499564398 | MT-CO1 | c.510T= (p.Asn170=) | |
| MT | m.6414A= | CA2573324724 | MT-CO1 | c.511A= (p.Ile171=) | |
| MT | m.6414A>C | CA414783826 | MT-CO1 | c.511A>C (p.Ile171Leu) | |
| MT | m.6414A>G | CA414783825 | MT-CO1 | c.511A>G (p.Ile171Val) | |
| MT | m.6414A>T | CA414783822 | MT-CO1 | c.511A>T (p.Ile171Leu) | |
| MT | m.6415T>A | CA414783830 | MT-CO1 | c.512T>A (p.Ile171Lys) | |
| MT | m.6415T>C | CA414783835 | MT-CO1 | c.512T>C (p.Ile171Thr) | |
| MT | m.6415T>G | CA414783833 | MT-CO1 | c.512T>G (p.Ile171Arg) | |
| MT | m.6415T= | CA2573324728 | MT-CO1 | c.512T= (p.Ile171=) | |
| MT | m.6416A= | CA2499564400 | MT-CO1 | c.513A= (p.Ile171=) | |
| MT | m.6416A>C | CA913181394 | MT-CO1 | c.513A>C (p.Ile171=) | |
| MT | m.6416A>G | CA414783838 | MT-CO1 | c.513A>G (p.Ile171Met) | dbSNP |
| MT | m.6416A>T | CA913181393 | MT-CO1 | c.513A>T (p.Ile171=) | |
| MT | m.6419del | CA2573104815 | MT-CO1 | c.516del (p.Lys172AsnfsTer5) | |
| MT | m.6417A= | CA2573324731 | MT-CO1 | c.514A= (p.Lys172=) | |
| MT | m.6417A>C | CA414783842 | MT-CO1 | c.514A>C (p.Lys172Gln) | |
| MT | m.6417A>G | CA414783844 | MT-CO1 | c.514A>G (p.Lys172Glu) | |
| MT | m.6417A>T | CA414783847 | MT-CO1 | c.514A>T (p.Lys172Ter) | |
| MT | m.6418A= | CA2573324733 | MT-CO1 | c.515A= (p.Lys172=) | |
| MT | m.6418A>C | CA414783851 | MT-CO1 | c.515A>C (p.Lys172Thr) | |
| MT | m.6418A>G | CA414783854 | MT-CO1 | c.515A>G (p.Lys172Arg) | |
| MT | m.6418A>T | CA414783856 | MT-CO1 | c.515A>T (p.Lys172Ile) | |
| MT | m.6419A= | CA2499564401 | MT-CO1 | c.516A= (p.Lys172=) | |
| MT | m.6419A>C | CA414783859 | MT-CO1 | c.516A>C (p.Lys172Asn) | dbSNP |
| MT | m.6419A>G | CA913181396 | MT-CO1 | c.516A>G (p.Lys172=) | |
| MT | m.6419A>T | CA414783861 | MT-CO1 | c.516A>T (p.Lys172Asn) | |
| MT | m.6420C>A | CA414783866 | MT-CO1 | c.517C>A (p.Pro173Thr) | ClinVar dbSNP |
| MT | m.6420C= | CA2499564402 | MT-CO1 | c.517C= (p.Pro173=) | |
| MT | m.6420C>G | CA414783869 | MT-CO1 | c.517C>G (p.Pro173Ala) | |
| MT | m.6420C>T | CA414783871 | MT-CO1 | c.517C>T (p.Pro173Ser) | |
| MT | m.6424dup | CA2573104816 | MT-CO1 | c.521dup (p.Ala175CysfsTer?) | |
| MT | m.6421C>A | CA414783879 | MT-CO1 | c.518C>A (p.Pro173His) | |
| MT | m.6421C= | CA2573324743 | MT-CO1 | c.518C= (p.Pro173=) | |
| MT | m.6421C>G | CA414783878 | MT-CO1 | c.518C>G (p.Pro173Arg) | |
| MT | m.6421C>T | CA414783875 | MT-CO1 | c.518C>T (p.Pro173Leu) | |
| MT | m.6422C>A | CA913181401 | MT-CO1 | c.519C>A (p.Pro173=) | |
| MT | m.6422C= | CA2499564404 | MT-CO1 | c.519C= (p.Pro173=) | |
| MT | m.6422C>G | CA913181400 | MT-CO1 | c.519C>G (p.Pro173=) | |
| MT | m.6422C>T | CA913181399 | MT-CO1 | c.519C>T (p.Pro173=) | dbSNP |
| MT | m.6423C>A | CA414783883 | MT-CO1 | c.520C>A (p.Pro174Thr) | |
| MT | m.6423C= | CA2573324746 | MT-CO1 | c.520C= (p.Pro174=) | |
| MT | m.6423C>G | CA414783885 | MT-CO1 | c.520C>G (p.Pro174Ala) | |
| MT | m.6423C>T | CA414783888 | MT-CO1 | c.520C>T (p.Pro174Ser) | |
| MT | m.6424C>A | CA414783889 | MT-CO1 | c.521C>A (p.Pro174His) | |
| MT | m.6424C= | CA2573324749 | MT-CO1 | c.521C= (p.Pro174=) | |
| MT | m.6424C>G | CA414783891 | MT-CO1 | c.521C>G (p.Pro174Arg) | |
| MT | m.6424C>T | CA414783895 | MT-CO1 | c.521C>T (p.Pro174Leu) | |
| MT | m.6425del | CA2573104817 | MT-CO1 | c.522del (p.Ala175ProfsTer2) | |
| MT | m.6425T>A | CA913181408 | MT-CO1 | c.522T>A (p.Pro174=) | |
| MT | m.6425T>C | CA913181407 | MT-CO1 | c.522T>C (p.Pro174=) | dbSNP |
| MT | m.6425T>G | CA913181403 | MT-CO1 | c.522T>G (p.Pro174=) | |
| MT | m.6425T= | CA2499564405 | MT-CO1 | c.522T= (p.Pro174=) | |
| MT | m.6426G>A | CA414783898 | MT-CO1 | c.523G>A (p.Ala175Thr) | dbSNP |
| MT | m.6426G>C | CA414783900 | MT-CO1 | c.523G>C (p.Ala175Pro) | |
| MT | m.6426G= | CA2573324754 | MT-CO1 | c.523G= (p.Ala175=) | |
| MT | m.6426G>T | CA414783904 | MT-CO1 | c.523G>T (p.Ala175Ser) | |
| MT | m.6427C>A | CA414783907 | MT-CO1 | c.524C>A (p.Ala175Asp) | |
| MT | m.6427C= | CA2573324756 | MT-CO1 | c.524C= (p.Ala175=) | |
| MT | m.6427C>G | CA414783909 | MT-CO1 | c.524C>G (p.Ala175Gly) | |
| MT | m.6427C>T | CA414783912 | MT-CO1 | c.524C>T (p.Ala175Val) | |
| MT | m.6428C>A | CA913181410 | MT-CO1 | c.525C>A (p.Ala175=) | |
| MT | m.6428C= | CA2499564408 | MT-CO1 | c.525C= (p.Ala175=) | |
| MT | m.6428C>G | CA913181412 | MT-CO1 | c.525C>G (p.Ala175=) | |
| MT | m.6428C>T | CA913181411 | MT-CO1 | c.525C>T (p.Ala175=) | dbSNP |
| MT | m.6429A= | CA2573324758 | MT-CO1 | c.526A= (p.Ile176=) | |
| MT | m.6429A>C | CA414783915 | MT-CO1 | c.526A>C (p.Ile176Leu) | |
| MT | m.6429A>G | CA414783920 | MT-CO1 | c.526A>G (p.Ile176Val) | |
| MT | m.6429A>T | CA414783918 | MT-CO1 | c.526A>T (p.Ile176Leu) | |
| MT | m.6429_6432del | CA2573104818 | MT-CO1 | c.526_529del (p.Ile176ProfsTer13) | |
| MT | m.6430T>A | CA414783923 | MT-CO1 | c.527T>A (p.Ile176Lys) | |
| MT | m.6430T>C | CA414783925 | MT-CO1 | c.527T>C (p.Ile176Thr) | dbSNP |
| MT | m.6430T>G | CA414783928 | MT-CO1 | c.527T>G (p.Ile176Arg) | |
| MT | m.6430T= | CA2499564409 | MT-CO1 | c.527T= (p.Ile176=) | |
| MT | m.6431A= | CA2573324762 | MT-CO1 | c.528A= (p.Ile176=) | |
| MT | m.6431A>C | CA913181414 | MT-CO1 | c.528A>C (p.Ile176=) | |
| MT | m.6431A>G | CA414783932 | MT-CO1 | c.528A>G (p.Ile176Met) | |
| MT | m.6431A>T | CA913181413 | MT-CO1 | c.528A>T (p.Ile176=) | |
| MT | m.6432A= | CA2573324765 | MT-CO1 | c.529A= (p.Thr177=) | |
| MT | m.6432A>C | CA414783935 | MT-CO1 | c.529A>C (p.Thr177Pro) | |
| MT | m.6432A>G | CA414783939 | MT-CO1 | c.529A>G (p.Thr177Ala) | |
| MT | m.6432A>T | CA414783940 | MT-CO1 | c.529A>T (p.Thr177Ser) | |
| MT | m.6433C>A | CA414783943 | MT-CO1 | c.530C>A (p.Thr177Asn) | |
| MT | m.6433C= | CA2573324768 | MT-CO1 | c.530C= (p.Thr177=) | |
| MT | m.6433C>G | CA414783946 | MT-CO1 | c.530C>G (p.Thr177Ser) | |
| MT | m.6433C>T | CA414783949 | MT-CO1 | c.530C>T (p.Thr177Ile) | |
| MT | m.6434C>A | CA913181419 | MT-CO1 | c.531C>A (p.Thr177=) | |
| MT | m.6434C= | CA2499564411 | MT-CO1 | c.531C= (p.Thr177=) | |
| MT | m.6434C>G | CA913181418 | MT-CO1 | c.531C>G (p.Thr177=) | |
| MT | m.6434C>T | CA913181417 | MT-CO1 | c.531C>T (p.Thr177=) | dbSNP |
| MT | m.6435C>A | CA414783958 | MT-CO1 | c.532C>A (p.Gln178Lys) | |
| MT | m.6435C= | CA2573324772 | MT-CO1 | c.532C= (p.Gln178=) | |
| MT | m.6435C>G | CA414783956 | MT-CO1 | c.532C>G (p.Gln178Glu) | |
| MT | m.6435C>T | CA414783952 | MT-CO1 | c.532C>T (p.Gln178Ter) | |
| MT | m.6436A= | CA2573324774 | MT-CO1 | c.533A= (p.Gln178=) | |
| MT | m.6436A>C | CA414783962 | MT-CO1 | c.533A>C (p.Gln178Pro) | |
| MT | m.6436A>G | CA414783965 | MT-CO1 | c.533A>G (p.Gln178Arg) | |
| MT | m.6436A>T | CA414783967 | MT-CO1 | c.533A>T (p.Gln178Leu) | |
| MT | m.6437A= | CA2499564412 | MT-CO1 | c.534A= (p.Gln178=) | |
| MT | m.6437A>C | CA414783972 | MT-CO1 | c.534A>C (p.Gln178His) | |
| MT | m.6437A>G | CA913181420 | MT-CO1 | c.534A>G (p.Gln178=) | dbSNP |
| MT | m.6437A>T | CA414783979 | MT-CO1 | c.534A>T (p.Gln178His) | |
| MT | m.6438T>A | CA414783983 | MT-CO1 | c.535T>A (p.Tyr179Asn) | |
| MT | m.6438T>C | CA414783985 | MT-CO1 | c.535T>C (p.Tyr179His) | |
| MT | m.6438T>G | CA414783988 | MT-CO1 | c.535T>G (p.Tyr179Asp) | |
| MT | m.6438T= | CA2573324777 | MT-CO1 | c.535T= (p.Tyr179=) | |
| MT | m.6439A= | CA2573324781 | MT-CO1 | c.536A= (p.Tyr179=) | |
| MT | m.6439A>C | CA414783993 | MT-CO1 | c.536A>C (p.Tyr179Ser) | |
| MT | m.6439A>G | CA414783995 | MT-CO1 | c.536A>G (p.Tyr179Cys) | |
| MT | m.6439A>T | CA414783997 | MT-CO1 | c.536A>T (p.Tyr179Phe) | |
| MT | m.6440C>A | CA414784000 | MT-CO1 | c.537C>A (p.Tyr179Ter) | |
| MT | m.6440C= | CA2573324784 | MT-CO1 | c.537C= (p.Tyr179=) | |
| MT | m.6440C>G | CA414784002 | MT-CO1 | c.537C>G (p.Tyr179Ter) | |
| MT | m.6440C>T | CA913181425 | MT-CO1 | c.537C>T (p.Tyr179=) | |
| MT | m.6441C>A | CA414784006 | MT-CO1 | c.538C>A (p.Gln180Lys) | |
| MT | m.6441C= | CA2573324785 | MT-CO1 | c.538C= (p.Gln180=) | |
| MT | m.6441C>G | CA414784012 | MT-CO1 | c.538C>G (p.Gln180Glu) | |
| MT | m.6441C>T | CA414784009 | MT-CO1 | c.538C>T (p.Gln180Ter) | |
| MT | m.6442A= | CA2573324786 | MT-CO1 | c.539A= (p.Gln180=) | |
| MT | m.6442A>C | CA414784015 | MT-CO1 | c.539A>C (p.Gln180Pro) | |
| MT | m.6442A>G | CA414784018 | MT-CO1 | c.539A>G (p.Gln180Arg) | |
| MT | m.6442A>T | CA414784020 | MT-CO1 | c.539A>T (p.Gln180Leu) | |
| MT | m.6443A= | CA2573324787 | MT-CO1 | c.540A= (p.Gln180=) | |
| MT | m.6443A>C | CA414784022 | MT-CO1 | c.540A>C (p.Gln180His) | |
| MT | m.6443A>G | CA913181427 | MT-CO1 | c.540A>G (p.Gln180=) | |
| MT | m.6443A>T | CA414784024 | MT-CO1 | c.540A>T (p.Gln180His) | |
| MT | m.6444A= | CA2499564414 | MT-CO1 | c.541A= (p.Thr181=) | |
| MT | m.6444A>C | CA414784028 | MT-CO1 | c.541A>C (p.Thr181Pro) | |
| MT | m.6444A>G | CA414784032 | MT-CO1 | c.541A>G (p.Thr181Ala) | dbSNP |
| MT | m.6444A>T | CA414784033 | MT-CO1 | c.541A>T (p.Thr181Ser) | |
| MT | m.6445C>A | CA414784038 | MT-CO1 | c.542C>A (p.Thr181Lys) | |
| MT | m.6445C= | CA2499564415 | MT-CO1 | c.542C= (p.Thr181=) | |
| MT | m.6445C>G | CA414784041 | MT-CO1 | c.542C>G (p.Thr181Arg) | |
| MT | m.6445C>T | CA337097398 | MT-CO1 | c.542C>T (p.Thr181Met) | ClinVar dbSNP |
| MT | m.6446G>A | CA337097400 | MT-CO1 | c.543G>A (p.Thr181=) | ClinVar dbSNP |
| MT | m.6446G>C | CA337097402 | MT-CO1 | c.543G>C (p.Thr181=) | |
| MT | m.6446G= | CA2499564418 | MT-CO1 | c.543G= (p.Thr181=) | |
| MT | m.6446G>T | CA337097404 | MT-CO1 | c.543G>T (p.Thr181=) | dbSNP |
| MT | m.6447C>A | CA414784053 | MT-CO1 | c.544C>A (p.Pro182Thr) | |
| MT | m.6447C= | CA2573324797 | MT-CO1 | c.544C= (p.Pro182=) | |
| MT | m.6447C>G | CA414784055 | MT-CO1 | c.544C>G (p.Pro182Ala) | |
| MT | m.6447C>T | CA414784057 | MT-CO1 | c.544C>T (p.Pro182Ser) | |
| MT | m.6448C>A | CA414784061 | MT-CO1 | c.545C>A (p.Pro182His) | |
| MT | m.6448C= | CA2573324799 | MT-CO1 | c.545C= (p.Pro182=) | |
| MT | m.6448C>G | CA414784063 | MT-CO1 | c.545C>G (p.Pro182Arg) | |
| MT | m.6448C>T | CA414784066 | MT-CO1 | c.545C>T (p.Pro182Leu) | |
| MT | m.6449C>A | CA913181438 | MT-CO1 | c.546C>A (p.Pro182=) | |
| MT | m.6449C= | CA2499564420 | MT-CO1 | c.546C= (p.Pro182=) | |
| MT | m.6449C>G | CA913181439 | MT-CO1 | c.546C>G (p.Pro182=) | |
| MT | m.6449C>T | CA913181440 | MT-CO1 | c.546C>T (p.Pro182=) | dbSNP |
| MT | m.6450C>A | CA414784070 | MT-CO1 | c.547C>A (p.Leu183Ile) | |
| MT | m.6450C= | CA2573324802 | MT-CO1 | c.547C= (p.Leu183=) | |
| MT | m.6450C>G | CA414784072 | MT-CO1 | c.547C>G (p.Leu183Val) | |
| MT | m.6450C>T | CA414784076 | MT-CO1 | c.547C>T (p.Leu183Phe) | |
| MT | m.6451T>A | CA414784081 | MT-CO1 | c.548T>A (p.Leu183His) | |
| MT | m.6451T>C | CA414784084 | MT-CO1 | c.548T>C (p.Leu183Pro) | dbSNP |
| MT | m.6451T>G | CA414784079 | MT-CO1 | c.548T>G (p.Leu183Arg) | |
| MT | m.6451T= | CA2573324805 | MT-CO1 | c.548T= (p.Leu183=) | |
| MT | m.6452C>A | CA913181446 | MT-CO1 | c.549C>A (p.Leu183=) | dbSNP |
| MT | m.6452C= | CA2499564421 | MT-CO1 | c.549C= (p.Leu183=) | |
| MT | m.6452C>G | CA913181444 | MT-CO1 | c.549C>G (p.Leu183=) | |
| MT | m.6452C>T | CA913181445 | MT-CO1 | c.549C>T (p.Leu183=) | dbSNP |
| MT | m.6453T>A | CA414784088 | MT-CO1 | c.550T>A (p.Phe184Ile) | |
| MT | m.6453T>C | CA414784091 | MT-CO1 | c.550T>C (p.Phe184Leu) | |
| MT | m.6453T>G | CA414784094 | MT-CO1 | c.550T>G (p.Phe184Val) | |
| MT | m.6453T= | CA2573324812 | MT-CO1 | c.550T= (p.Phe184=) | |
| MT | m.6454T>A | CA414784097 | MT-CO1 | c.551T>A (p.Phe184Tyr) | |
| MT | m.6454T>C | CA414784099 | MT-CO1 | c.551T>C (p.Phe184Ser) | |
| MT | m.6454T>G | CA414784101 | MT-CO1 | c.551T>G (p.Phe184Cys) | |
| MT | m.6454T= | CA2513178186 | MT-CO1 | c.551T= (p.Phe184=) | |
| MT | m.6455C>A | CA414784106 | MT-CO1 | c.552C>A (p.Phe184Leu) | |
| MT | m.6455C= | CA2499564423 | MT-CO1 | c.552C= (p.Phe184=) | |
| MT | m.6455C>G | CA414784108 | MT-CO1 | c.552C>G (p.Phe184Leu) | |
| MT | m.6455C>T | CA337097405 | MT-CO1 | c.552C>T (p.Phe184=) | dbSNP |
| MT | m.6456G>A | CA414784115 | MT-CO1 | c.553G>A (p.Val185Ile) | ClinVar dbSNP |
| MT | m.6456G>C | CA414784117 | MT-CO1 | c.553G>C (p.Val185Leu) | |
| MT | m.6456G= | CA2499564425 | MT-CO1 | c.553G= (p.Val185=) | |
| MT | m.6456G>T | CA414784120 | MT-CO1 | c.553G>T (p.Val185Phe) | |
| MT | m.6457T>A | CA414784129 | MT-CO1 | c.554T>A (p.Val185Asp) | |
| MT | m.6457T>C | CA414784123 | MT-CO1 | c.554T>C (p.Val185Ala) | |
| MT | m.6457T>G | CA414784126 | MT-CO1 | c.554T>G (p.Val185Gly) | |
| MT | m.6457T= | CA2573324825 | MT-CO1 | c.554T= (p.Val185=) | |
| MT | m.6458C>A | CA913181459 | MT-CO1 | c.555C>A (p.Val185=) | |
| MT | m.6458C= | CA2499564427 | MT-CO1 | c.555C= (p.Val185=) | |
| MT | m.6458C>G | CA913181460 | MT-CO1 | c.555C>G (p.Val185=) | |
| MT | m.6458C>T | CA913181461 | MT-CO1 | c.555C>T (p.Val185=) | dbSNP |
| MT | m.6459T>A | CA414784133 | MT-CO1 | c.556T>A (p.Ter186Arg) | |
| MT | m.6459T>C | CA414784136 | MT-CO1 | c.556T>C (p.Ter186Arg) | |
| MT | m.6459T>G | CA414784139 | MT-CO1 | c.556T>G (p.Ter186Gly) | |
| MT | m.6459T= | CA414784141 | MT-CO1 | c.556T= (p.Ter186=) | |
| MT | m.6460G>A | CA414784145 | MT-CO1 | c.557G>A (p.Ter186=) | |
| MT | m.6460G>C | CA414784148 | MT-CO1 | c.557G>C (p.Ter186Ser) | |
| MT | m.6460G= | CA414784150 | MT-CO1 | c.557G= (p.Ter186=) | |
| MT | m.6460G>T | CA414784153 | MT-CO1 | c.557G>T (p.Ter186Leu) | |
| MT | m.6461A= | CA414784155 | MT-CO1 | c.558A= (p.Ter186=) | |
| MT | m.6461A>C | CA337097407 | MT-CO1 | c.558A>C (p.Ter186Cys) | |
| MT | m.6461A>G | CA337097411 | MT-CO1 | c.558A>G (p.Ter186Trp) | dbSNP |
| MT | m.6461A>T | CA337097409 | MT-CO1 | c.558A>T (p.Ter186Cys) | |
| MT | m.6462T>A | CA414784161 | MT-CO1 | c.559T>A (p.Ser187Thr) | |
| MT | m.6462T>C | CA414784163 | MT-CO1 | c.559T>C (p.Ser187Pro) | |
| MT | m.6462T>G | CA414784158 | MT-CO1 | c.559T>G (p.Ser187Ala) | |
| MT | m.6462T= | CA2573324846 | MT-CO1 | c.559T= (p.Ser187=) | |
| MT | m.6463C>A | CA414784167 | MT-CO1 | c.560C>A (p.Ser187Tyr) | |
| MT | m.6463C= | CA2573324850 | MT-CO1 | c.560C= (p.Ser187=) | |
| MT | m.6463C>G | CA414784173 | MT-CO1 | c.560C>G (p.Ser187Cys) | |
| MT | m.6463C>T | CA414784170 | MT-CO1 | c.560C>T (p.Ser187Phe) | |
| MT | m.6464C>A | CA913181463 | MT-CO1 | c.561C>A (p.Ser187=) | dbSNP |
| MT | m.6464C= | CA2499564429 | MT-CO1 | c.561C= (p.Ser187=) | |
| MT | m.6464C>G | CA913181465 | MT-CO1 | c.561C>G (p.Ser187=) | |
| MT | m.6464C>T | CA913181467 | MT-CO1 | c.561C>T (p.Ser187=) | |
| MT | m.6465G>A | CA414784176 | MT-CO1 | c.562G>A (p.Val188Ile) | ClinVar dbSNP |
| MT | m.6465G>C | CA337097413 | MT-CO1 | c.562G>C (p.Val188Leu) | dbSNP |
| MT | m.6465G= | CA2499564431 | MT-CO1 | c.562G= (p.Val188=) | |
| MT | m.6465G>T | CA337097415 | MT-CO1 | c.562G>T (p.Val188Phe) | |
| MT | m.6466T>A | CA414784184 | MT-CO1 | c.563T>A (p.Val188Asp) | |
| MT | m.6466T>C | CA414784189 | MT-CO1 | c.563T>C (p.Val188Ala) | dbSNP |
| MT | m.6466T>G | CA414784186 | MT-CO1 | c.563T>G (p.Val188Gly) | |
| MT | m.6466T= | CA2499564435 | MT-CO1 | c.563T= (p.Val188=) | |
| MT | m.6467C>A | CA913181471 | MT-CO1 | c.564C>A (p.Val188=) | dbSNP |
| MT | m.6467C= | CA2499564437 | MT-CO1 | c.564C= (p.Val188=) | |
| MT | m.6467C>G | CA913181472 | MT-CO1 | c.564C>G (p.Val188=) | |
| MT | m.6467C>T | CA913181473 | MT-CO1 | c.564C>T (p.Val188=) | dbSNP |
| MT | m.6468C>A | CA414784191 | MT-CO1 | c.565C>A (p.Leu189Ile) | |
| MT | m.6468C= | CA2499564439 | MT-CO1 | c.565C= (p.Leu189=) | |
| MT | m.6468C>G | CA414784193 | MT-CO1 | c.565C>G (p.Leu189Val) | |
| MT | m.6468C>T | CA913181477 | MT-CO1 | c.565C>T (p.Leu189=) | dbSNP |
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.6469T>A | CA414784198 | MT-CO1 | c.566T>A (p.Leu189Gln) | |
| MT | m.6469T>C | CA414784200 | MT-CO1 | c.566T>C (p.Leu189Pro) | |
| MT | m.6469T>G | CA414784202 | MT-CO1 | c.566T>G (p.Leu189Arg) | |
| MT | m.6469T= | CA2573324863 | MT-CO1 | c.566T= (p.Leu189=) | |
| MT | m.6470A= | CA2499564442 | MT-CO1 | c.567A= (p.Leu189=) | |
| MT | m.6470A>C | CA913181481 | MT-CO1 | c.567A>C (p.Leu189=) | |
| MT | m.6470A>G | CA913181482 | MT-CO1 | c.567A>G (p.Leu189=) | dbSNP |
| MT | m.6470A>T | CA913181483 | MT-CO1 | c.567A>T (p.Leu189=) | |
| MT | m.6471A= | CA2499564444 | MT-CO1 | c.568A= (p.Ile190=) | |
| MT | m.6471A>C | CA414784205 | MT-CO1 | c.568A>C (p.Ile190Leu) | |
| MT | m.6471A>G | CA414784208 | MT-CO1 | c.568A>G (p.Ile190Val) | dbSNP |
| MT | m.6471A>T | CA414784211 | MT-CO1 | c.568A>T (p.Ile190Phe) | |
| MT | m.6472T>A | CA414784213 | MT-CO1 | c.569T>A (p.Ile190Asn) | |
| MT | m.6472T>C | CA414784217 | MT-CO1 | c.569T>C (p.Ile190Thr) | |
| MT | m.6472T>G | CA414784218 | MT-CO1 | c.569T>G (p.Ile190Ser) | |
| MT | m.6472T= | CA2513673040 | MT-CO1 | c.569T= (p.Ile190=) |