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.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.12509A= | CA2499567621 | MT-ND5 | c.173A= (p.Asp58=) | |
| MT | m.12509A>C | CA414813495 | MT-ND5 | c.173A>C (p.Asp58Ala) | |
| MT | m.12509A>G | CA414813497 | MT-ND5 | c.173A>G (p.Asp58Gly) | ClinVar dbSNP |
| MT | m.12509A>T | CA414813499 | MT-ND5 | c.173A>T (p.Asp58Val) | |
| MT | m.12510C>A | CA414813501 | MT-ND5 | c.174C>A (p.Asp58Glu) | |
| MT | m.12510C= | CA2499567622 | MT-ND5 | c.174C= (p.Asp58=) | |
| MT | m.12510C>G | CA414813502 | MT-ND5 | c.174C>G (p.Asp58Glu) | |
| MT | m.12510C>T | CA913170364 | MT-ND5 | c.174C>T (p.Asp58=) | dbSNP |
| MT | m.12511C>A | CA414813506 | MT-ND5 | c.175C>A (p.Gln59Lys) | |
| MT | m.12511C= | CA2573329626 | MT-ND5 | c.175C= (p.Gln59=) | |
| MT | m.12511C>G | CA414813509 | MT-ND5 | c.175C>G (p.Gln59Glu) | |
| MT | m.12511C>T | CA414813507 | MT-ND5 | c.175C>T (p.Gln59Ter) | |
| MT | m.12512A= | CA2499567623 | MT-ND5 | c.176A= (p.Gln59=) | |
| MT | m.12512A>C | CA414813511 | MT-ND5 | c.176A>C (p.Gln59Pro) | |
| MT | m.12512A>G | CA414813513 | MT-ND5 | c.176A>G (p.Gln59Arg) | |
| MT | m.12512A>T | CA414813515 | MT-ND5 | c.176A>T (p.Gln59Leu) | ClinVar dbSNP |
| MT | m.12513A= | CA2499567624 | MT-ND5 | c.177A= (p.Gln59=) | |
| MT | m.12513A>C | CA414813518 | MT-ND5 | c.177A>C (p.Gln59His) | |
| MT | m.12513A>G | CA913170365 | MT-ND5 | c.177A>G (p.Gln59=) | dbSNP |
| MT | m.12513A>T | CA414813520 | MT-ND5 | c.177A>T (p.Gln59His) | |
| MT | m.12514G>A | CA414813523 | MT-ND5 | c.178G>A (p.Glu60Lys) | |
| MT | m.12514G>C | CA414813525 | MT-ND5 | c.178G>C (p.Glu60Gln) | |
| MT | m.12514G= | CA2573329630 | MT-ND5 | c.178G= (p.Glu60=) | |
| MT | m.12514G>T | CA414813526 | MT-ND5 | c.178G>T (p.Glu60Ter) | |
| MT | m.12515A= | CA2573329632 | MT-ND5 | c.179A= (p.Glu60=) | |
| MT | m.12515A>C | CA414813529 | MT-ND5 | c.179A>C (p.Glu60Ala) | |
| MT | m.12515A>G | CA414813531 | MT-ND5 | c.179A>G (p.Glu60Gly) | |
| MT | m.12515A>T | CA414813532 | MT-ND5 | c.179A>T (p.Glu60Val) | |
| MT | m.12516A= | CA2573329634 | MT-ND5 | c.180A= (p.Glu60=) | |
| MT | m.12516A>C | CA414813534 | MT-ND5 | c.180A>C (p.Glu60Asp) | |
| MT | m.12516A>G | CA913170366 | MT-ND5 | c.180A>G (p.Glu60=) | |
| MT | m.12516A>T | CA414813536 | MT-ND5 | c.180A>T (p.Glu60Asp) | |
| MT | m.12517G>A | CA414813542 | MT-ND5 | c.181G>A (p.Val61Ile) | |
| MT | m.12517G>C | CA414813538 | MT-ND5 | c.181G>C (p.Val61Leu) | |
| MT | m.12517G= | CA2573329636 | MT-ND5 | c.181G= (p.Val61=) | |
| MT | m.12517G>T | CA414813539 | MT-ND5 | c.181G>T (p.Val61Phe) | |
| MT | m.12518T>A | CA414813544 | MT-ND5 | c.182T>A (p.Val61Asp) | |
| MT | m.12518T>C | CA414813546 | MT-ND5 | c.182T>C (p.Val61Ala) | COSMIC |
| MT | m.12518T>G | CA414813548 | MT-ND5 | c.182T>G (p.Val61Gly) | |
| MT | m.12518T= | CA2573329637 | MT-ND5 | c.182T= (p.Val61=) | |
| MT | m.12519T>A | CA913170367 | MT-ND5 | c.183T>A (p.Val61=) | |
| MT | m.12519T>C | CA337099498 | MT-ND5 | c.183T>C (p.Val61=) | dbSNP |
| MT | m.12519T>G | CA913170368 | MT-ND5 | c.183T>G (p.Val61=) | |
| MT | m.12519T= | CA2499567625 | MT-ND5 | c.183T= (p.Val61=) | |
| MT | m.12520A= | CA2499567626 | MT-ND5 | c.184A= (p.Ile62=) | |
| MT | m.12520A>C | CA414813552 | MT-ND5 | c.184A>C (p.Ile62Leu) | |
| MT | m.12520A>G | CA414813553 | MT-ND5 | c.184A>G (p.Ile62Val) | ClinVar dbSNP |
| MT | m.12520A>T | CA414813556 | MT-ND5 | c.184A>T (p.Ile62Phe) | |
| MT | m.12521T>A | CA414813558 | MT-ND5 | c.185T>A (p.Ile62Asn) | |
| MT | m.12521T>C | CA414813560 | MT-ND5 | c.185T>C (p.Ile62Thr) | |
| MT | m.12521T>G | CA414813562 | MT-ND5 | c.185T>G (p.Ile62Ser) | |
| MT | m.12521T= | CA2573329641 | MT-ND5 | c.185T= (p.Ile62=) | |
| MT | m.12522T>A | CA913170369 | MT-ND5 | c.186T>A (p.Ile62=) | |
| MT | m.12522T>C | CA913170370 | MT-ND5 | c.186T>C (p.Ile62=) | |
| MT | m.12522T>G | CA414813564 | MT-ND5 | c.186T>G (p.Ile62Met) | |
| MT | m.12522T= | CA2573329643 | MT-ND5 | c.186T= (p.Ile62=) | |
| MT | m.12523A= | CA2499567627 | MT-ND5 | c.187A= (p.Ile63=) | |
| MT | m.12523A>C | CA414813570 | MT-ND5 | c.187A>C (p.Ile63Leu) | |
| MT | m.12523A>G | CA414813567 | MT-ND5 | c.187A>G (p.Ile63Val) | dbSNP |
| MT | m.12523A>T | CA414813568 | MT-ND5 | c.187A>T (p.Ile63Phe) | |
| MT | m.12524T>A | CA414813573 | MT-ND5 | c.188T>A (p.Ile63Asn) | |
| MT | m.12524T>C | CA414813575 | MT-ND5 | c.188T>C (p.Ile63Thr) | |
| MT | m.12524T>G | CA414813577 | MT-ND5 | c.188T>G (p.Ile63Ser) | |
| MT | m.12524T= | CA2573329646 | MT-ND5 | c.188T= (p.Ile63=) | |
| MT | m.12525C>A | CA913170371 | MT-ND5 | c.189C>A (p.Ile63=) | |
| MT | m.12525C= | CA2573329650 | MT-ND5 | c.189C= (p.Ile63=) | |
| MT | m.12525C>G | CA414813579 | MT-ND5 | c.189C>G (p.Ile63Met) | |
| MT | m.12525C>T | CA913170372 | MT-ND5 | c.189C>T (p.Ile63=) | |
| MT | m.12526T>A | CA414813582 | MT-ND5 | c.190T>A (p.Ser64Thr) | |
| MT | m.12526T>C | CA414813583 | MT-ND5 | c.190T>C (p.Ser64Pro) | |
| MT | m.12526T>G | CA414813585 | MT-ND5 | c.190T>G (p.Ser64Ala) | |
| MT | m.12526T= | CA2573329653 | MT-ND5 | c.190T= (p.Ser64=) | |
| MT | m.12527C>A | CA414813588 | MT-ND5 | c.191C>A (p.Ser64Ter) | |
| MT | m.12527C= | CA2573329656 | MT-ND5 | c.191C= (p.Ser64=) | |
| MT | m.12527C>G | CA414813590 | MT-ND5 | c.191C>G (p.Ser64Trp) | |
| MT | m.12527C>T | CA414813592 | MT-ND5 | c.191C>T (p.Ser64Leu) | |
| MT | m.12528G>A | CA913170375 | MT-ND5 | c.192G>A (p.Ser64=) | dbSNP |
| MT | m.12528G>C | CA913170374 | MT-ND5 | c.192G>C (p.Ser64=) | |
| MT | m.12528G= | CA2499567628 | MT-ND5 | c.192G= (p.Ser64=) | |
| MT | m.12528G>T | CA913170373 | MT-ND5 | c.192G>T (p.Ser64=) | |
| MT | m.12529A= | CA2573329661 | MT-ND5 | c.193A= (p.Asn65=) | |
| MT | m.12529A>C | CA414813595 | MT-ND5 | c.193A>C (p.Asn65His) | |
| MT | m.12529A>G | CA414813596 | MT-ND5 | c.193A>G (p.Asn65Asp) | |
| MT | m.12529A>T | CA414813598 | MT-ND5 | c.193A>T (p.Asn65Tyr) | |
| MT | m.12530A= | CA2499567629 | MT-ND5 | c.194A= (p.Asn65=) | |
| MT | m.12530A>C | CA414813601 | MT-ND5 | c.194A>C (p.Asn65Thr) | |
| MT | m.12530A>G | CA414813604 | MT-ND5 | c.194A>G (p.Asn65Ser) | ClinVar dbSNP |
| MT | m.12530A>T | CA414813602 | MT-ND5 | c.194A>T (p.Asn65Ile) | |
| MT | m.12531C>A | CA414813607 | MT-ND5 | c.195C>A (p.Asn65Lys) | |
| MT | m.12531C= | CA2499567630 | MT-ND5 | c.195C= (p.Asn65=) | |
| MT | m.12531C>G | CA414813609 | MT-ND5 | c.195C>G (p.Asn65Lys) | |
| MT | m.12531C>T | CA913170376 | MT-ND5 | c.195C>T (p.Asn65=) | dbSNP |
| MT | m.12532T>A | CA414813611 | MT-ND5 | c.196T>A (p.Ter66Arg) | |
| MT | m.12532T>C | CA414813613 | MT-ND5 | c.196T>C (p.Ter66Arg) | |
| MT | m.12532T>G | CA414813614 | MT-ND5 | c.196T>G (p.Ter66Gly) | |
| MT | m.12532T= | CA414813616 | MT-ND5 | c.196T= (p.Ter66=) | |
| MT | m.12533G>A | CA414813619 | MT-ND5 | c.197G>A (p.Ter66=) | |
| MT | m.12533G>C | CA414813620 | MT-ND5 | c.197G>C (p.Ter66Ser) | |
| MT | m.12533G= | CA414813622 | MT-ND5 | c.197G= (p.Ter66=) | |
| MT | m.12533G>T | CA414813624 | MT-ND5 | c.197G>T (p.Ter66Leu) | |
| MT | m.12534A= | CA414813627 | MT-ND5 | c.198A= (p.Ter66=) | |
| MT | m.12534A>C | CA414813631 | MT-ND5 | c.198A>C (p.Ter66Cys) | |
| MT | m.12534A>G | CA414813633 | MT-ND5 | c.198A>G (p.Ter66Trp) | dbSNP |
| MT | m.12534A>T | CA414813629 | MT-ND5 | c.198A>T (p.Ter66Cys) | |
| MT | m.12535C>A | CA414813635 | MT-ND5 | c.199C>A (p.His67Asn) | |
| MT | m.12535C= | CA2499567631 | MT-ND5 | c.199C= (p.His67=) | |
| MT | m.12535C>G | CA414813637 | MT-ND5 | c.199C>G (p.His67Asp) | |
| MT | m.12535C>T | CA10581194 | MT-ND5 | c.199C>T (p.His67Tyr) | ClinVar dbSNP |
| MT | m.12536A= | CA2573329669 | MT-ND5 | c.200A= (p.His67=) | |
| MT | m.12536A>C | CA414813641 | MT-ND5 | c.200A>C (p.His67Pro) | |
| MT | m.12536A>G | CA414813643 | MT-ND5 | c.200A>G (p.His67Arg) | |
| MT | m.12536A>T | CA414813645 | MT-ND5 | c.200A>T (p.His67Leu) | |
| MT | m.12537C>A | CA414813648 | MT-ND5 | c.201C>A (p.His67Gln) | |
| MT | m.12537C= | CA2573329670 | MT-ND5 | c.201C= (p.His67=) | |
| MT | m.12537C>G | CA414813649 | MT-ND5 | c.201C>G (p.His67Gln) | |
| MT | m.12537C>T | CA913170377 | MT-ND5 | c.201C>T (p.His67=) | |
| MT | m.12538T>A | CA414813651 | MT-ND5 | c.202T>A (p.Ter68Arg) | |
| MT | m.12538T>C | CA414813653 | MT-ND5 | c.202T>C (p.Ter68Arg) | |
| MT | m.12538T>G | CA414813655 | MT-ND5 | c.202T>G (p.Ter68Gly) | |
| MT | m.12538T= | CA414813656 | MT-ND5 | c.202T= (p.Ter68=) | |
| MT | m.12539G>A | CA414813665 | MT-ND5 | c.203G>A (p.Ter68=) | dbSNP |
| MT | m.12539G>C | CA414813659 | MT-ND5 | c.203G>C (p.Ter68Ser) | |
| MT | m.12539G= | CA414813663 | MT-ND5 | c.203G= (p.Ter68=) | |
| MT | m.12539G>T | CA414813661 | MT-ND5 | c.203G>T (p.Ter68Leu) | |
| MT | m.12540A= | CA414813667 | MT-ND5 | c.204A= (p.Ter68=) | |
| MT | m.12540A>C | CA414813669 | MT-ND5 | c.204A>C (p.Ter68Cys) | |
| MT | m.12540A>G | CA414813671 | MT-ND5 | c.204A>G (p.Ter68Trp) | dbSNP |
| MT | m.12540A>T | CA414813673 | MT-ND5 | c.204A>T (p.Ter68Cys) | |
| MT | m.12541G>A | CA414813675 | MT-ND5 | c.205G>A (p.Ala69Thr) | dbSNP |
| MT | m.12541G>C | CA414813677 | MT-ND5 | c.205G>C (p.Ala69Pro) | |
| MT | m.12541G= | CA2499567632 | MT-ND5 | c.205G= (p.Ala69=) | |
| MT | m.12541G>T | CA414813678 | MT-ND5 | c.205G>T (p.Ala69Ser) | |
| MT | m.12542C>A | CA414813681 | MT-ND5 | c.206C>A (p.Ala69Asp) | |
| MT | m.12542C= | CA2499567633 | MT-ND5 | c.206C= (p.Ala69=) | |
| MT | m.12542C>G | CA414813682 | MT-ND5 | c.206C>G (p.Ala69Gly) | |
| MT | m.12542C>T | CA337099500 | MT-ND5 | c.206C>T (p.Ala69Val) | ClinVar dbSNP |
| MT | m.12543C>A | CA913170379 | MT-ND5 | c.207C>A (p.Ala69=) | |
| MT | m.12543C= | CA2573329679 | MT-ND5 | c.207C= (p.Ala69=) | |
| MT | m.12543C>G | CA913170378 | MT-ND5 | c.207C>G (p.Ala69=) | |
| MT | m.12543C>T | CA913170380 | MT-ND5 | c.207C>T (p.Ala69=) | dbSNP |
| MT | m.12544A= | CA2499567634 | MT-ND5 | c.208A= (p.Thr70=) | |
| MT | m.12544A>C | CA414813686 | MT-ND5 | c.208A>C (p.Thr70Pro) | |
| MT | m.12544A>G | CA414813690 | MT-ND5 | c.208A>G (p.Thr70Ala) | ClinVar dbSNP |
| MT | m.12544A>T | CA414813688 | MT-ND5 | c.208A>T (p.Thr70Ser) | |
| MT | m.12552_12560del | CA2573105241 | MT-ND5 | c.216_224del (p.Thr73_Gln75del) | |
| MT | m.12545C>A | CA414813692 | MT-ND5 | c.209C>A (p.Thr70Lys) | |
| MT | m.12545C= | CA2499567635 | MT-ND5 | c.209C= (p.Thr70=) | |
| MT | m.12545C>G | CA414813694 | MT-ND5 | c.209C>G (p.Thr70Arg) | |
| MT | m.12545C>T | CA414813696 | MT-ND5 | c.209C>T (p.Thr70Ile) | ClinVar dbSNP |
| MT | m.12546A= | CA2499567636 | MT-ND5 | c.210A= (p.Thr70=) | |
| MT | m.12546A>C | CA913170383 | MT-ND5 | c.210A>C (p.Thr70=) | |
| MT | m.12546A>G | CA913170381 | MT-ND5 | c.210A>G (p.Thr70=) | |
| MT | m.12546A>T | CA913170382 | MT-ND5 | c.210A>T (p.Thr70=) | dbSNP |
| MT | m.12547A= | CA2573329685 | MT-ND5 | c.211A= (p.Thr71=) | |
| MT | m.12547A>C | CA414813698 | MT-ND5 | c.211A>C (p.Thr71Pro) | |
| MT | m.12547A>G | CA414813700 | MT-ND5 | c.211A>G (p.Thr71Ala) | |
| MT | m.12547A>T | CA414813702 | MT-ND5 | c.211A>T (p.Thr71Ser) | |
| MT | m.12548C>A | CA414813704 | MT-ND5 | c.212C>A (p.Thr71Asn) | |
| MT | m.12548C= | CA2573329686 | MT-ND5 | c.212C= (p.Thr71=) | |
| MT | m.12548C>G | CA414813706 | MT-ND5 | c.212C>G (p.Thr71Ser) | |
| MT | m.12548C>T | CA414813708 | MT-ND5 | c.212C>T (p.Thr71Ile) | |
| MT | m.12549C>A | CA913170384 | MT-ND5 | c.213C>A (p.Thr71=) | |
| MT | m.12549C= | CA2499567637 | MT-ND5 | c.213C= (p.Thr71=) | |
| MT | m.12549C>G | CA913170385 | MT-ND5 | c.213C>G (p.Thr71=) | |
| MT | m.12549C>T | CA913170386 | MT-ND5 | c.213C>T (p.Thr71=) | dbSNP |
| MT | m.12550C>A | CA414813710 | MT-ND5 | c.214C>A (p.Gln72Lys) | |
| MT | m.12550C= | CA2573329689 | MT-ND5 | c.214C= (p.Gln72=) | |
| MT | m.12550C>G | CA414813712 | MT-ND5 | c.214C>G (p.Gln72Glu) | |
| MT | m.12550C>T | CA414813713 | MT-ND5 | c.214C>T (p.Gln72Ter) | |
| MT | m.12551A= | CA2573329690 | MT-ND5 | c.215A= (p.Gln72=) | |
| MT | m.12551A>C | CA414813716 | MT-ND5 | c.215A>C (p.Gln72Pro) | |
| MT | m.12551A>G | CA414813719 | MT-ND5 | c.215A>G (p.Gln72Arg) | |
| MT | m.12551A>T | CA414813717 | MT-ND5 | c.215A>T (p.Gln72Leu) | |
| MT | m.12552A= | CA2573329692 | MT-ND5 | c.216A= (p.Gln72=) | |
| MT | m.12552A>C | CA414813722 | MT-ND5 | c.216A>C (p.Gln72His) | |
| MT | m.12552A>G | CA913170387 | MT-ND5 | c.216A>G (p.Gln72=) | |
| MT | m.12552A>T | CA414813724 | MT-ND5 | c.216A>T (p.Gln72His) | |
| MT | m.12553A= | CA2573329694 | MT-ND5 | c.217A= (p.Thr73=) | |
| MT | m.12553A>C | CA414813726 | MT-ND5 | c.217A>C (p.Thr73Pro) | |
| MT | m.12553A>G | CA414813729 | MT-ND5 | c.217A>G (p.Thr73Ala) | |
| MT | m.12553A>T | CA414813730 | MT-ND5 | c.217A>T (p.Thr73Ser) | |
| MT | m.12554C>A | CA414813733 | MT-ND5 | c.218C>A (p.Thr73Lys) | |
| MT | m.12554C= | CA2573329696 | MT-ND5 | c.218C= (p.Thr73=) | |
| MT | m.12554C>G | CA414813735 | MT-ND5 | c.218C>G (p.Thr73Arg) | |
| MT | m.12554C>T | CA414813737 | MT-ND5 | c.218C>T (p.Thr73Ile) | |
| MT | m.12555A= | CA2573329699 | MT-ND5 | c.219A= (p.Thr73=) | |
| MT | m.12555A>C | CA913170388 | MT-ND5 | c.219A>C (p.Thr73=) | |
| MT | m.12555A>G | CA913170389 | MT-ND5 | c.219A>G (p.Thr73=) | |
| MT | m.12555A>T | CA913170390 | MT-ND5 | c.219A>T (p.Thr73=) | |
| MT | m.12556A= | CA2499567638 | MT-ND5 | c.220A= (p.Thr74=) | |
| MT | m.12556A>C | CA414813744 | MT-ND5 | c.220A>C (p.Thr74Pro) | |
| MT | m.12556A>G | CA414813742 | MT-ND5 | c.220A>G (p.Thr74Ala) | ClinVar dbSNP |
| MT | m.12556A>T | CA414813740 | MT-ND5 | c.220A>T (p.Thr74Ser) | |
| MT | m.12557C>A | CA414813746 | MT-ND5 | c.221C>A (p.Thr74Asn) | |
| MT | m.12557C= | CA2499567639 | MT-ND5 | c.221C= (p.Thr74=) | |
| MT | m.12557C>G | CA414813750 | MT-ND5 | c.221C>G (p.Thr74Ser) | |
| MT | m.12557C>T | CA414813748 | MT-ND5 | c.221C>T (p.Thr74Ile) | ClinVar dbSNP |
| MT | m.12558C>A | CA913170391 | MT-ND5 | c.222C>A (p.Thr74=) | |
| MT | m.12558C= | CA2573329704 | MT-ND5 | c.222C= (p.Thr74=) | |
| MT | m.12558C>G | CA913170392 | MT-ND5 | c.222C>G (p.Thr74=) | |
| MT | m.12558C>T | CA913170393 | MT-ND5 | c.222C>T (p.Thr74=) | |
| MT | m.12559C>A | CA414813753 | MT-ND5 | c.223C>A (p.Gln75Lys) | |
| MT | m.12559C= | CA2573329707 | MT-ND5 | c.223C= (p.Gln75=) | |
| MT | m.12559C>G | CA414813756 | MT-ND5 | c.223C>G (p.Gln75Glu) | |
| MT | m.12559C>T | CA414813755 | MT-ND5 | c.223C>T (p.Gln75Ter) | |
| MT | m.12560A= | CA2499567640 | MT-ND5 | c.224A= (p.Gln75=) | |
| MT | m.12560A>C | CA414813759 | MT-ND5 | c.224A>C (p.Gln75Pro) | |
| MT | m.12560A>G | CA414813762 | MT-ND5 | c.224A>G (p.Gln75Arg) | ClinVar dbSNP |
| MT | m.12560A>T | CA414813760 | MT-ND5 | c.224A>T (p.Gln75Leu) | |
| MT | m.12561G>A | CA337099502 | MT-ND5 | c.225G>A (p.Gln75=) | dbSNP |
| MT | m.12561G>C | CA414813765 | MT-ND5 | c.225G>C (p.Gln75His) | ClinVar dbSNP |
| MT | m.12561G= | CA2499567641 | MT-ND5 | c.225G= (p.Gln75=) | |
| MT | m.12561G>T | CA414813767 | MT-ND5 | c.225G>T (p.Gln75His) | |
| MT | m.12562C>A | CA414813770 | MT-ND5 | c.226C>A (p.Leu76Ile) | |
| MT | m.12562C= | CA2499567642 | MT-ND5 | c.226C= (p.Leu76=) | |
| MT | m.12562C>G | CA414813771 | MT-ND5 | c.226C>G (p.Leu76Val) | |
| MT | m.12562C>T | CA414813773 | MT-ND5 | c.226C>T (p.Leu76Phe) | dbSNP |
| MT | m.12563T>A | CA414813776 | MT-ND5 | c.227T>A (p.Leu76His) | |
| MT | m.12563T>C | CA414813777 | MT-ND5 | c.227T>C (p.Leu76Pro) | dbSNP |
| MT | m.12563T>G | CA414813779 | MT-ND5 | c.227T>G (p.Leu76Arg) | |
| MT | m.12563T= | CA2573329712 | MT-ND5 | c.227T= (p.Leu76=) | |
| MT | m.12564C>A | CA913170396 | MT-ND5 | c.228C>A (p.Leu76=) | |
| MT | m.12564C= | CA2499567643 | MT-ND5 | c.228C= (p.Leu76=) | |
| MT | m.12564C>G | CA913170394 | MT-ND5 | c.228C>G (p.Leu76=) | |
| MT | m.12564C>T | CA913170395 | MT-ND5 | c.228C>T (p.Leu76=) | dbSNP |
| MT | m.12565T>A | CA414813785 | MT-ND5 | c.229T>A (p.Ser77Thr) | |
| MT | m.12565T>C | CA414813782 | MT-ND5 | c.229T>C (p.Ser77Pro) | |
| MT | m.12565T>G | CA414813783 | MT-ND5 | c.229T>G (p.Ser77Ala) | |
| MT | m.12565T= | CA2573329716 | MT-ND5 | c.229T= (p.Ser77=) | |
| MT | m.12566C>A | CA414813787 | MT-ND5 | c.230C>A (p.Ser77Tyr) | |
| MT | m.12566C= | CA2573329718 | MT-ND5 | c.230C= (p.Ser77=) | |
| MT | m.12566C>G | CA414813788 | MT-ND5 | c.230C>G (p.Ser77Cys) | |
| MT | m.12566C>T | CA414813790 | MT-ND5 | c.230C>T (p.Ser77Phe) | |
| MT | m.12567C>A | CA913170399 | MT-ND5 | c.231C>A (p.Ser77=) | |
| MT | m.12567C= | CA2499567644 | MT-ND5 | c.231C= (p.Ser77=) | |
| MT | m.12567C>G | CA913170398 | MT-ND5 | c.231C>G (p.Ser77=) | |
| MT | m.12567C>T | CA913170397 | MT-ND5 | c.231C>T (p.Ser77=) | dbSNP |
| MT | m.12568C>A | CA337099504 | MT-ND5 | c.232C>A (p.Leu78Ile) | dbSNP |
| MT | m.12568C= | CA2499567645 | MT-ND5 | c.232C= (p.Leu78=) | |
| MT | m.12568C>G | CA414813794 | MT-ND5 | c.232C>G (p.Leu78Val) | |
| MT | m.12568C>T | CA913170400 | MT-ND5 | c.232C>T (p.Leu78=) | |
| MT | m.12569T>A | CA414813797 | MT-ND5 | c.233T>A (p.Leu78Gln) | |
| MT | m.12569T>C | CA414813798 | MT-ND5 | c.233T>C (p.Leu78Pro) | COSMIC |
| MT | m.12569T>G | CA414813800 | MT-ND5 | c.233T>G (p.Leu78Arg) | |
| MT | m.12569T= | CA2573329721 | MT-ND5 | c.233T= (p.Leu78=) | |
| MT | m.12570A= | CA2499567646 | MT-ND5 | c.234A= (p.Leu78=) | |
| MT | m.12570A>C | CA913170401 | MT-ND5 | c.234A>C (p.Leu78=) | |
| MT | m.12570A>G | CA913170402 | MT-ND5 | c.234A>G (p.Leu78=) | dbSNP |
| MT | m.12570A>T | CA913170403 | MT-ND5 | c.234A>T (p.Leu78=) | |
| MT | m.12571A= | CA2573329724 | MT-ND5 | c.235A= (p.Ser79=) | |
| MT | m.12571A>C | CA414813805 | MT-ND5 | c.235A>C (p.Ser79Arg) | |
| MT | m.12571A>G | CA414813807 | MT-ND5 | c.235A>G (p.Ser79Gly) | |
| MT | m.12571A>T | CA414813803 | MT-ND5 | c.235A>T (p.Ser79Cys) | |
| MT | m.12572G>A | CA414813809 | MT-ND5 | c.236G>A (p.Ser79Asn) | |
| MT | m.12572G>C | CA414813811 | MT-ND5 | c.236G>C (p.Ser79Thr) | |
| MT | m.12572G= | CA2573329725 | MT-ND5 | c.236G= (p.Ser79=) | |
| MT | m.12572G>T | CA414813813 | MT-ND5 | c.236G>T (p.Ser79Ile) | |
| MT | m.12573C>A | CA414813815 | MT-ND5 | c.237C>A (p.Ser79Arg) | |
| MT | m.12573C= | CA2573329726 | MT-ND5 | c.237C= (p.Ser79=) | |
| MT | m.12573C>G | CA414813817 | MT-ND5 | c.237C>G (p.Ser79Arg) | |
| MT | m.12573C>T | CA913170404 | MT-ND5 | c.237C>T (p.Ser79=) | |
| MT | m.12574T>A | CA414813819 | MT-ND5 | c.238T>A (p.Phe80Ile) | |
| MT | m.12574T>C | CA414813821 | MT-ND5 | c.238T>C (p.Phe80Leu) | |
| MT | m.12574T>G | CA414813823 | MT-ND5 | c.238T>G (p.Phe80Val) | |
| MT | m.12574T= | CA2573329728 | MT-ND5 | c.238T= (p.Phe80=) | |
| MT | m.12575T>A | CA414813825 | MT-ND5 | c.239T>A (p.Phe80Tyr) | |
| MT | m.12575T>C | CA414813827 | MT-ND5 | c.239T>C (p.Phe80Ser) | |
| MT | m.12575T>G | CA414813829 | MT-ND5 | c.239T>G (p.Phe80Cys) | |
| MT | m.12575T= | CA2573329731 | MT-ND5 | c.239T= (p.Phe80=) | |
| MT | m.12576C>A | CA414813831 | MT-ND5 | c.240C>A (p.Phe80Leu) | |
| MT | m.12576C= | CA2573329734 | MT-ND5 | c.240C= (p.Phe80=) | |
| MT | m.12576C>G | CA414813833 | MT-ND5 | c.240C>G (p.Phe80Leu) | |
| MT | m.12576C>T | CA913170405 | MT-ND5 | c.240C>T (p.Phe80=) | |
| MT | m.12577A= | CA2573329736 | MT-ND5 | c.241A= (p.Lys81=) | |
| MT | m.12577A>C | CA414813835 | MT-ND5 | c.241A>C (p.Lys81Gln) | |
| MT | m.12577A>G | CA414813837 | MT-ND5 | c.241A>G (p.Lys81Glu) | |
| MT | m.12577A>T | CA414813839 | MT-ND5 | c.241A>T (p.Lys81Ter) | |
| MT | m.12578A= | CA2573329739 | MT-ND5 | c.242A= (p.Lys81=) | |
| MT | m.12578A>C | CA414813841 | MT-ND5 | c.242A>C (p.Lys81Thr) | |
| MT | m.12578A>G | CA414813843 | MT-ND5 | c.242A>G (p.Lys81Arg) | |
| MT | m.12578A>T | CA414813845 | MT-ND5 | c.242A>T (p.Lys81Ile) | |
| MT | m.12579A= | CA2499567647 | MT-ND5 | c.243A= (p.Lys81=) | |
| MT | m.12579A>C | CA414813847 | MT-ND5 | c.243A>C (p.Lys81Asn) | |
| MT | m.12579A>G | CA337099506 | MT-ND5 | c.243A>G (p.Lys81=) | dbSNP |
| MT | m.12579A>T | CA414813850 | MT-ND5 | c.243A>T (p.Lys81Asn) | |
| MT | m.12580C>A | CA414813853 | MT-ND5 | c.244C>A (p.Leu82Ile) | |
| MT | m.12580C= | CA2573329740 | MT-ND5 | c.244C= (p.Leu82=) | |
| MT | m.12580C>G | CA414813855 | MT-ND5 | c.244C>G (p.Leu82Val) | |
| MT | m.12580C>T | CA913170406 | MT-ND5 | c.244C>T (p.Leu82=) | |
| MT | m.12581T>A | CA414813859 | MT-ND5 | c.245T>A (p.Leu82Gln) | |
| MT | m.12581T>C | CA414813861 | MT-ND5 | c.245T>C (p.Leu82Pro) | |
| MT | m.12581T>G | CA414813857 | MT-ND5 | c.245T>G (p.Leu82Arg) | |
| MT | m.12581T= | CA2573329742 | MT-ND5 | c.245T= (p.Leu82=) | |
| MT | m.12582A= | CA2499567648 | MT-ND5 | c.246A= (p.Leu82=) | |
| MT | m.12582A>C | CA913170407 | MT-ND5 | c.246A>C (p.Leu82=) | |
| MT | m.12582A>G | CA913170409 | MT-ND5 | c.246A>G (p.Leu82=) | dbSNP |
| MT | m.12582A>T | CA913170408 | MT-ND5 | c.246A>T (p.Leu82=) | |
| MT | m.12583G>A | CA414813863 | MT-ND5 | c.247G>A (p.Asp83Asn) | |
| MT | m.12583G>C | CA414813865 | MT-ND5 | c.247G>C (p.Asp83His) | |
| MT | m.12583G= | CA2573329745 | MT-ND5 | c.247G= (p.Asp83=) | |
| MT | m.12583G>T | CA414813867 | MT-ND5 | c.247G>T (p.Asp83Tyr) | |
| MT | m.12584A= | CA2573329747 | MT-ND5 | c.248A= (p.Asp83=) | |
| MT | m.12584A>C | CA414813870 | MT-ND5 | c.248A>C (p.Asp83Ala) | |
| MT | m.12584A>G | CA414813872 | MT-ND5 | c.248A>G (p.Asp83Gly) | |
| MT | m.12584A>T | CA414813873 | MT-ND5 | c.248A>T (p.Asp83Val) | |
| MT | m.12585C>A | CA414813875 | MT-ND5 | c.249C>A (p.Asp83Glu) | |
| MT | m.12585C= | CA2499567649 | MT-ND5 | c.249C= (p.Asp83=) | |
| MT | m.12585C>G | CA414813877 | MT-ND5 | c.249C>G (p.Asp83Glu) | |
| MT | m.12585C>T | CA913170410 | MT-ND5 | c.249C>T (p.Asp83=) | dbSNP |
| MT | m.12586T>A | CA414813879 | MT-ND5 | c.250T>A (p.Tyr84Asn) | |
| MT | m.12586T>C | CA414813881 | MT-ND5 | c.250T>C (p.Tyr84His) | |
| MT | m.12586T>G | CA414813883 | MT-ND5 | c.250T>G (p.Tyr84Asp) | |
| MT | m.12586T= | CA2573329752 | MT-ND5 | c.250T= (p.Tyr84=) | |
| MT | m.12587A= | CA2499567650 | MT-ND5 | c.251A= (p.Tyr84=) | |
| MT | m.12587A>C | CA414813889 | MT-ND5 | c.251A>C (p.Tyr84Ser) | |
| MT | m.12587A>G | CA414813888 | MT-ND5 | c.251A>G (p.Tyr84Cys) | ClinVar dbSNP |
| MT | m.12587A>T | CA414813886 | MT-ND5 | c.251A>T (p.Tyr84Phe) | |
| MT | m.12588C>A | CA414813892 | MT-ND5 | c.252C>A (p.Tyr84Ter) | |
| MT | m.12588C= | CA2499567651 | MT-ND5 | c.252C= (p.Tyr84=) | |
| MT | m.12588C>G | CA414813893 | MT-ND5 | c.252C>G (p.Tyr84Ter) | |
| MT | m.12588C>T | CA913170411 | MT-ND5 | c.252C>T (p.Tyr84=) | dbSNP |
| MT | m.12589T>A | CA414813896 | MT-ND5 | c.253T>A (p.Phe85Ile) | |
| MT | m.12589T>C | CA414813898 | MT-ND5 | c.253T>C (p.Phe85Leu) | |
| MT | m.12589T>G | CA414813899 | MT-ND5 | c.253T>G (p.Phe85Val) | |
| MT | m.12589T= | CA2573329764 | MT-ND5 | c.253T= (p.Phe85=) | |
| MT | m.12590T>A | CA414813902 | MT-ND5 | c.254T>A (p.Phe85Tyr) | |
| MT | m.12590T>C | CA414813904 | MT-ND5 | c.254T>C (p.Phe85Ser) | |
| MT | m.12590T>G | CA414813905 | MT-ND5 | c.254T>G (p.Phe85Cys) | |
| MT | m.12590T= | CA2573329765 | MT-ND5 | c.254T= (p.Phe85=) | |
| MT | m.12591C>A | CA414813907 | MT-ND5 | c.255C>A (p.Phe85Leu) | |
| MT | m.12591C= | CA2573329768 | MT-ND5 | c.255C= (p.Phe85=) | |
| MT | m.12591C>G | CA414813909 | MT-ND5 | c.255C>G (p.Phe85Leu) | |
| MT | m.12591C>T | CA913170412 | MT-ND5 | c.255C>T (p.Phe85=) | dbSNP |
| MT | m.12592T>A | CA414813911 | MT-ND5 | c.256T>A (p.Ser86Thr) | |
| MT | m.12592T>C | CA414813913 | MT-ND5 | c.256T>C (p.Ser86Pro) | dbSNP |
| MT | m.12592T>G | CA414813915 | MT-ND5 | c.256T>G (p.Ser86Ala) | |
| MT | m.12592T= | CA2499567652 | MT-ND5 | c.256T= (p.Ser86=) | |
| MT | m.12593C>A | CA414813918 | MT-ND5 | c.257C>A (p.Ser86Tyr) | |
| MT | m.12593C= | CA2573329770 | MT-ND5 | c.257C= (p.Ser86=) | |
| MT | m.12593C>G | CA414813921 | MT-ND5 | c.257C>G (p.Ser86Cys) | |
| MT | m.12593C>T | CA414813917 | MT-ND5 | c.257C>T (p.Ser86Phe) | |
| MT | m.12594C>A | CA913170413 | MT-ND5 | c.258C>A (p.Ser86=) | |
| MT | m.12594C= | CA2573329772 | MT-ND5 | c.258C= (p.Ser86=) | |
| MT | m.12594C>G | CA913170414 | MT-ND5 | c.258C>G (p.Ser86=) | |
| MT | m.12594C>T | CA913170415 | MT-ND5 | c.258C>T (p.Ser86=) | |
| MT | m.12595A= | CA2573329773 | MT-ND5 | c.259A= (p.Ile87=) | |
| MT | m.12595A>C | CA414813923 | MT-ND5 | c.259A>C (p.Ile87Leu) | |
| MT | m.12595A>G | CA414813925 | MT-ND5 | c.259A>G (p.Ile87Val) | |
| MT | m.12595A>T | CA414813927 | MT-ND5 | c.259A>T (p.Ile87Leu) | |
| MT | m.12596T>A | CA414813929 | MT-ND5 | c.260T>A (p.Ile87Lys) | |
| MT | m.12596T>C | CA414813931 | MT-ND5 | c.260T>C (p.Ile87Thr) | |
| MT | m.12596T>G | CA414813933 | MT-ND5 | c.260T>G (p.Ile87Arg) | |
| MT | m.12596T= | CA2573329774 | MT-ND5 | c.260T= (p.Ile87=) | |
| MT | m.12597A= | CA2573329775 | MT-ND5 | c.261A= (p.Ile87=) | |
| MT | m.12597A>C | CA913170416 | MT-ND5 | c.261A>C (p.Ile87=) | |
| MT | m.12597A>G | CA414813935 | MT-ND5 | c.261A>G (p.Ile87Met) | |
| MT | m.12597A>T | CA913170417 | MT-ND5 | c.261A>T (p.Ile87=) | |
| MT | m.12598A= | CA2573329776 | MT-ND5 | c.262A= (p.Ile88=) | |
| MT | m.12598A>C | CA414813937 | MT-ND5 | c.262A>C (p.Ile88Leu) | |
| MT | m.12598A>G | CA414813939 | MT-ND5 | c.262A>G (p.Ile88Val) | |
| MT | m.12598A>T | CA414813941 | MT-ND5 | c.262A>T (p.Ile88Leu) | |
| MT | m.12599T>A | CA414813948 | MT-ND5 | c.263T>A (p.Ile88Lys) | |
| MT | m.12599T>C | CA414813946 | MT-ND5 | c.263T>C (p.Ile88Thr) | ClinVar dbSNP |
| MT | m.12599T>G | CA414813944 | MT-ND5 | c.263T>G (p.Ile88Arg) | |
| MT | m.12599T= | CA2499567653 | MT-ND5 | c.263T= (p.Ile88=) | |
| MT | m.12600A= | CA2573329778 | MT-ND5 | c.264A= (p.Ile88=) | |
| MT | m.12600A>C | CA913170418 | MT-ND5 | c.264A>C (p.Ile88=) | |
| MT | m.12600A>G | CA414813950 | MT-ND5 | c.264A>G (p.Ile88Met) | |
| MT | m.12600A>T | CA913170419 | MT-ND5 | c.264A>T (p.Ile88=) | |
| MT | m.12601T>A | CA414813952 | MT-ND5 | c.265T>A (p.Phe89Ile) | dbSNP |
| MT | m.12601T>C | CA414813954 | MT-ND5 | c.265T>C (p.Phe89Leu) | ClinVar dbSNP |
| MT | m.12601T>G | CA414813956 | MT-ND5 | c.265T>G (p.Phe89Val) | |
| MT | m.12601T= | CA2499567654 | MT-ND5 | c.265T= (p.Phe89=) | |
| MT | m.12602T>A | CA414813959 | MT-ND5 | c.266T>A (p.Phe89Tyr) | |
| MT | m.12602T>C | CA414813960 | MT-ND5 | c.266T>C (p.Phe89Ser) | COSMIC |
| MT | m.12602T>G | CA414813961 | MT-ND5 | c.266T>G (p.Phe89Cys) | |
| MT | m.12602T= | CA2573329779 | MT-ND5 | c.266T= (p.Phe89=) | |
| MT | m.12603C>A | CA414813965 | MT-ND5 | c.267C>A (p.Phe89Leu) | |
| MT | m.12603C= | CA2499567655 | MT-ND5 | c.267C= (p.Phe89=) | |
| MT | m.12603C>G | CA414813966 | MT-ND5 | c.267C>G (p.Phe89Leu) | |
| MT | m.12603C>T | CA913170420 | MT-ND5 | c.267C>T (p.Phe89=) | dbSNP |
| MT | m.12604A= | CA2573329781 | MT-ND5 | c.268A= (p.Ile90=) | |
| MT | m.12604A>C | CA414813968 | MT-ND5 | c.268A>C (p.Ile90Leu) | |
| MT | m.12604A>G | CA414813971 | MT-ND5 | c.268A>G (p.Ile90Val) | |
| MT | m.12604A>T | CA414813972 | MT-ND5 | c.268A>T (p.Ile90Phe) | |
| MT | m.12605T>A | CA414813977 | MT-ND5 | c.269T>A (p.Ile90Asn) | |
| MT | m.12605T>C | CA414813979 | MT-ND5 | c.269T>C (p.Ile90Thr) | |
| MT | m.12605T>G | CA414813975 | MT-ND5 | c.269T>G (p.Ile90Ser) | |
| MT | m.12605T= | CA2573329783 | MT-ND5 | c.269T= (p.Ile90=) | |
| MT | m.12606C>A | CA913170422 | MT-ND5 | c.270C>A (p.Ile90=) | |
| MT | m.12606C= | CA2573329786 | MT-ND5 | c.270C= (p.Ile90=) | |
| MT | m.12606C>G | CA414813981 | MT-ND5 | c.270C>G (p.Ile90Met) | |
| MT | m.12606C>T | CA913170421 | MT-ND5 | c.270C>T (p.Ile90=) | |
| MT | m.12607C>A | CA414813984 | MT-ND5 | c.271C>A (p.Pro91Thr) | |
| MT | m.12607C= | CA2573329787 | MT-ND5 | c.271C= (p.Pro91=) | |
| MT | m.12607C>G | CA414813985 | MT-ND5 | c.271C>G (p.Pro91Ala) | |
| MT | m.12607C>T | CA414813987 | MT-ND5 | c.271C>T (p.Pro91Ser) | |
| MT | m.12608C>A | CA414813990 | MT-ND5 | c.272C>A (p.Pro91His) | |
| MT | m.12608C= | CA2513094506 | MT-ND5 | c.272C= (p.Pro91=) | |
| MT | m.12608C>G | CA414813991 | MT-ND5 | c.272C>G (p.Pro91Arg) | |
| MT | m.12608C>T | CA414813993 | MT-ND5 | c.272C>T (p.Pro91Leu) | |
| MT | m.12609T>A | CA913170424 | MT-ND5 | c.273T>A (p.Pro91=) | |
| MT | m.12609T>C | CA337099508 | MT-ND5 | c.273T>C (p.Pro91=) | dbSNP |
| MT | m.12609T>G | CA913170423 | MT-ND5 | c.273T>G (p.Pro91=) | |
| MT | m.12609T= | CA2499567656 | MT-ND5 | c.273T= (p.Pro91=) |