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.3828A= | CA2573328706 | MT-ND1 | c.522A= (p.Leu174=) | |
| MT | m.3828A>C | CA414773600 | MT-ND1 | c.522A>C (p.Leu174Phe) | |
| MT | m.3828A>G | CA913175561 | MT-ND1 | c.522A>G (p.Leu174=) | dbSNP |
| MT | m.3828A>T | CA414773601 | MT-ND1 | c.522A>T (p.Leu174Phe) | |
| MT | m.3829C>A | CA414773604 | MT-ND1 | c.523C>A (p.Leu175Ile) | |
| MT | m.3829C= | CA2573328708 | MT-ND1 | c.523C= (p.Leu175=) | |
| MT | m.3829C>G | CA414773602 | MT-ND1 | c.523C>G (p.Leu175Val) | |
| MT | m.3829C>T | CA414773603 | MT-ND1 | c.523C>T (p.Leu175Phe) | |
| MT | m.3830T>A | CA414773605 | MT-ND1 | c.524T>A (p.Leu175His) | |
| MT | m.3830T>C | CA414773606 | MT-ND1 | c.524T>C (p.Leu175Pro) | |
| MT | m.3830T>G | CA414773607 | MT-ND1 | c.524T>G (p.Leu175Arg) | |
| MT | m.3830T= | CA2573328710 | MT-ND1 | c.524T= (p.Leu175=) | |
| MT | m.3831C>A | CA913175583 | MT-ND1 | c.525C>A (p.Leu175=) | |
| MT | m.3831C= | CA2573328713 | MT-ND1 | c.525C= (p.Leu175=) | |
| MT | m.3831C>G | CA913175579 | MT-ND1 | c.525C>G (p.Leu175=) | |
| MT | m.3831C>T | CA913175580 | MT-ND1 | c.525C>T (p.Leu175=) | |
| MT | m.3832C>A | CA414773608 | MT-ND1 | c.526C>A (p.Leu176Met) | |
| MT | m.3832C= | CA2573328716 | MT-ND1 | c.526C= (p.Leu176=) | |
| MT | m.3832C>G | CA414773609 | MT-ND1 | c.526C>G (p.Leu176Val) | |
| MT | m.3832C>T | CA913175584 | MT-ND1 | c.526C>T (p.Leu176=) | |
| MT | m.3833T>A | CA414773610 | MT-ND1 | c.527T>A (p.Leu176Gln) | |
| MT | m.3833T>C | CA414773611 | MT-ND1 | c.527T>C (p.Leu176Pro) | |
| MT | m.3833T>G | CA414773612 | MT-ND1 | c.527T>G (p.Leu176Arg) | |
| MT | m.3833T= | CA2573328717 | MT-ND1 | c.527T= (p.Leu176=) | |
| MT | m.3834G>A | CA337096696 | MT-ND1 | c.528G>A (p.Leu176=) | dbSNP COSMIC COSMIC |
| MT | m.3834G>C | CA913175599 | MT-ND1 | c.528G>C (p.Leu176=) | |
| MT | m.3834G= | CA2499563621 | MT-ND1 | c.528G= (p.Leu176=) | |
| MT | m.3834G>T | CA913175598 | MT-ND1 | c.528G>T (p.Leu176=) | |
| MT | m.3835C>A | CA414773613 | MT-ND1 | c.529C>A (p.Pro177Thr) | |
| MT | m.3835C= | CA2573328720 | MT-ND1 | c.529C= (p.Pro177=) | |
| MT | m.3835C>G | CA414773614 | MT-ND1 | c.529C>G (p.Pro177Ala) | |
| MT | m.3835C>T | CA414773615 | MT-ND1 | c.529C>T (p.Pro177Ser) | |
| MT | m.3836C>A | CA414773618 | MT-ND1 | c.530C>A (p.Pro177Gln) | |
| MT | m.3836C= | CA2573328721 | MT-ND1 | c.530C= (p.Pro177=) | |
| MT | m.3836C>G | CA414773616 | MT-ND1 | c.530C>G (p.Pro177Arg) | |
| MT | m.3836C>T | CA414773617 | MT-ND1 | c.530C>T (p.Pro177Leu) | |
| MT | m.3837A= | CA2499563622 | MT-ND1 | c.531A= (p.Pro177=) | |
| MT | m.3837A>C | CA913175611 | MT-ND1 | c.531A>C (p.Pro177=) | |
| MT | m.3837A>G | CA913175612 | MT-ND1 | c.531A>G (p.Pro177=) | dbSNP |
| MT | m.3837A>T | CA913175613 | MT-ND1 | c.531A>T (p.Pro177=) | |
| MT | m.3838T>A | CA414773619 | MT-ND1 | c.532T>A (p.Ser178Thr) | |
| MT | m.3838T>C | CA414773620 | MT-ND1 | c.532T>C (p.Ser178Pro) | |
| MT | m.3838T>G | CA414773621 | MT-ND1 | c.532T>G (p.Ser178Ala) | |
| MT | m.3838T= | CA2573328723 | MT-ND1 | c.532T= (p.Ser178=) | |
| MT | m.3839C>A | CA414773622 | MT-ND1 | c.533C>A (p.Ser178Ter) | |
| MT | m.3839C= | CA2573328725 | MT-ND1 | c.533C= (p.Ser178=) | |
| MT | m.3839C>G | CA414773623 | MT-ND1 | c.533C>G (p.Ser178Ter) | |
| MT | m.3839C>T | CA414773624 | MT-ND1 | c.533C>T (p.Ser178Leu) | |
| MT | m.3840A= | CA2573328726 | MT-ND1 | c.534A= (p.Ser178=) | |
| MT | m.3840A>C | CA913175614 | MT-ND1 | c.534A>C (p.Ser178=) | |
| MT | m.3840A>G | CA913175615 | MT-ND1 | c.534A>G (p.Ser178=) | |
| MT | m.3840A>T | CA913175621 | MT-ND1 | c.534A>T (p.Ser178=) | |
| MT | m.3841T>A | CA414773625 | MT-ND1 | c.535T>A (p.Ter179Arg) | |
| MT | m.3841T>C | CA414773626 | MT-ND1 | c.535T>C (p.Ter179Arg) | |
| MT | m.3841T>G | CA414773627 | MT-ND1 | c.535T>G (p.Ter179Gly) | |
| MT | m.3841T= | CA414773628 | MT-ND1 | c.535T= (p.Ter179=) | |
| MT | m.3842G>A | CA414773631 | MT-ND1 | c.536G>A (p.Ter179=) | |
| MT | m.3842G>C | CA414773632 | MT-ND1 | c.536G>C (p.Ter179Ser) | |
| MT | m.3842G= | CA414773630 | MT-ND1 | c.536G= (p.Ter179=) | |
| MT | m.3842G>T | CA414773629 | MT-ND1 | c.536G>T (p.Ter179Leu) | |
| MT | m.3843A= | CA414773633 | MT-ND1 | c.537A= (p.Ter179=) | |
| MT | m.3843A>C | CA414773634 | MT-ND1 | c.537A>C (p.Ter179Cys) | |
| MT | m.3843A>G | CA10581249 | MT-ND1 | c.537A>G (p.Ter179Trp) | ClinVar dbSNP |
| MT | m.3843A>T | CA414773635 | MT-ND1 | c.537A>T (p.Ter179Cys) | |
| MT | m.3844C>A | CA414773638 | MT-ND1 | c.538C>A (p.Pro180Thr) | |
| MT | m.3844C= | CA2573328731 | MT-ND1 | c.538C= (p.Pro180=) | |
| MT | m.3844C>G | CA414773637 | MT-ND1 | c.538C>G (p.Pro180Ala) | |
| MT | m.3844C>T | CA414773636 | MT-ND1 | c.538C>T (p.Pro180Ser) | |
| MT | m.3845C>A | CA414773639 | MT-ND1 | c.539C>A (p.Pro180His) | |
| MT | m.3845C= | CA2573328732 | MT-ND1 | c.539C= (p.Pro180=) | |
| MT | m.3845C>G | CA414773640 | MT-ND1 | c.539C>G (p.Pro180Arg) | |
| MT | m.3845C>T | CA414773641 | MT-ND1 | c.539C>T (p.Pro180Leu) | |
| MT | m.3846C>A | CA913175650 | MT-ND1 | c.540C>A (p.Pro180=) | |
| MT | m.3846C= | CA2499563623 | MT-ND1 | c.540C= (p.Pro180=) | |
| MT | m.3846C>G | CA913175651 | MT-ND1 | c.540C>G (p.Pro180=) | |
| MT | m.3846C>T | CA913175653 | MT-ND1 | c.540C>T (p.Pro180=) | dbSNP |
| MT | m.3847T>A | CA414773642 | MT-ND1 | c.541T>A (p.Leu181Met) | |
| MT | m.3847T>C | CA337096699 | MT-ND1 | c.541T>C (p.Leu181=) | dbSNP |
| MT | m.3847T>G | CA414773643 | MT-ND1 | c.541T>G (p.Leu181Val) | |
| MT | m.3847T= | CA2499563624 | MT-ND1 | c.541T= (p.Leu181=) | |
| MT | m.3848T>A | CA414773646 | MT-ND1 | c.542T>A (p.Leu181Ter) | |
| MT | m.3848T>C | CA414773644 | MT-ND1 | c.542T>C (p.Leu181Ser) | dbSNP |
| MT | m.3848T>G | CA414773645 | MT-ND1 | c.542T>G (p.Leu181Trp) | |
| MT | m.3848T= | CA2499563625 | MT-ND1 | c.542T= (p.Leu181=) | |
| MT | m.3849G>A | CA10581376 | MT-ND1 | c.543G>A (p.Leu181=) | ClinVar dbSNP |
| MT | m.3849G>C | CA414773647 | MT-ND1 | c.543G>C (p.Leu181Phe) | |
| MT | m.3849G= | CA2499563626 | MT-ND1 | c.543G= (p.Leu181=) | |
| MT | m.3849G>T | CA414773648 | MT-ND1 | c.543G>T (p.Leu181Phe) | |
| MT | m.3850G>A | CA337096703 | MT-ND1 | c.544G>A (p.Ala182Thr) | dbSNP |
| MT | m.3850G>C | CA414773649 | MT-ND1 | c.544G>C (p.Ala182Pro) | |
| MT | m.3850G= | CA2499563627 | MT-ND1 | c.544G= (p.Ala182=) | |
| MT | m.3850G>T | CA414773650 | MT-ND1 | c.544G>T (p.Ala182Ser) | |
| MT | m.3851C>A | CA414773651 | MT-ND1 | c.545C>A (p.Ala182Asp) | |
| MT | m.3851C= | CA2573328738 | MT-ND1 | c.545C= (p.Ala182=) | |
| MT | m.3851C>G | CA414773652 | MT-ND1 | c.545C>G (p.Ala182Gly) | |
| MT | m.3851C>T | CA414773653 | MT-ND1 | c.545C>T (p.Ala182Val) | |
| MT | m.3852C>A | CA913175681 | MT-ND1 | c.546C>A (p.Ala182=) | |
| MT | m.3852C= | CA2499563628 | MT-ND1 | c.546C= (p.Ala182=) | |
| MT | m.3852C>G | CA913175683 | MT-ND1 | c.546C>G (p.Ala182=) | |
| MT | m.3852C>T | CA913175688 | MT-ND1 | c.546C>T (p.Ala182=) | dbSNP |
| MT | m.3853A= | CA2573328740 | MT-ND1 | c.547A= (p.Ile183=) | |
| MT | m.3853A>C | CA414773654 | MT-ND1 | c.547A>C (p.Ile183Leu) | |
| MT | m.3853A>G | CA414773655 | MT-ND1 | c.547A>G (p.Ile183Val) | |
| MT | m.3853A>T | CA414773656 | MT-ND1 | c.547A>T (p.Ile183Leu) | |
| MT | m.3854T>A | CA414773657 | MT-ND1 | c.548T>A (p.Ile183Lys) | |
| MT | m.3854T>C | CA414773659 | MT-ND1 | c.548T>C (p.Ile183Thr) | |
| MT | m.3854T>G | CA414773658 | MT-ND1 | c.548T>G (p.Ile183Arg) | |
| MT | m.3854T= | CA2573328741 | MT-ND1 | c.548T= (p.Ile183=) | |
| MT | m.3855A= | CA2573328743 | MT-ND1 | c.549A= (p.Ile183=) | |
| MT | m.3855A>C | CA913175700 | MT-ND1 | c.549A>C (p.Ile183=) | |
| MT | m.3855A>G | CA414773660 | MT-ND1 | c.549A>G (p.Ile183Met) | |
| MT | m.3855A>T | CA913175706 | MT-ND1 | c.549A>T (p.Ile183=) | |
| MT | m.3856A= | CA2573328745 | MT-ND1 | c.550A= (p.Ile184=) | |
| MT | m.3856A>C | CA414773661 | MT-ND1 | c.550A>C (p.Ile184Leu) | |
| MT | m.3856A>G | CA414773662 | MT-ND1 | c.550A>G (p.Ile184Val) | |
| MT | m.3856A>T | CA414773663 | MT-ND1 | c.550A>T (p.Ile184Leu) | |
| MT | m.3857T>A | CA414773664 | MT-ND1 | c.551T>A (p.Ile184Lys) | |
| MT | m.3857T>C | CA414773665 | MT-ND1 | c.551T>C (p.Ile184Thr) | |
| MT | m.3857T>G | CA414773666 | MT-ND1 | c.551T>G (p.Ile184Arg) | |
| MT | m.3857T= | CA2573328749 | MT-ND1 | c.551T= (p.Ile184=) | |
| MT | m.3858A= | CA2573328751 | MT-ND1 | c.552A= (p.Ile184=) | |
| MT | m.3858A>C | CA913175728 | MT-ND1 | c.552A>C (p.Ile184=) | |
| MT | m.3858A>G | CA414773667 | MT-ND1 | c.552A>G (p.Ile184Met) | |
| MT | m.3858A>T | CA913175732 | MT-ND1 | c.552A>T (p.Ile184=) | |
| MT | m.3859T>A | CA414773668 | MT-ND1 | c.553T>A (p.Ter185Arg) | |
| MT | m.3859T>C | CA414773669 | MT-ND1 | c.553T>C (p.Ter185Arg) | COSMIC COSMIC |
| MT | m.3859T>G | CA414773670 | MT-ND1 | c.553T>G (p.Ter185Gly) | |
| MT | m.3859T= | CA414773671 | MT-ND1 | c.553T= (p.Ter185=) | |
| MT | m.3860G>A | CA414773675 | MT-ND1 | c.554G>A (p.Ter185=) | |
| MT | m.3860G>C | CA414773672 | MT-ND1 | c.554G>C (p.Ter185Ser) | |
| MT | m.3860G= | CA414773674 | MT-ND1 | c.554G= (p.Ter185=) | |
| MT | m.3860G>T | CA414773673 | MT-ND1 | c.554G>T (p.Ter185Leu) | |
| MT | m.3861A= | CA414773676 | MT-ND1 | c.555A= (p.Ter185=) | |
| MT | m.3861A>C | CA414773677 | MT-ND1 | c.555A>C (p.Ter185Cys) | |
| MT | m.3861A>G | CA414773678 | MT-ND1 | c.555A>G (p.Ter185Trp) | dbSNP |
| MT | m.3861A>T | CA414773679 | MT-ND1 | c.555A>T (p.Ter185Cys) | COSMIC COSMIC |
| MT | m.3862T>A | CA414773680 | MT-ND1 | c.556T>A (p.Phe186Ile) | |
| MT | m.3862T>C | CA414773681 | MT-ND1 | c.556T>C (p.Phe186Leu) | |
| MT | m.3862T>G | CA414773682 | MT-ND1 | c.556T>G (p.Phe186Val) | |
| MT | m.3862T= | CA2573328758 | MT-ND1 | c.556T= (p.Phe186=) | |
| MT | m.3863T>A | CA414773683 | MT-ND1 | c.557T>A (p.Phe186Tyr) | |
| MT | m.3863T>C | CA414773684 | MT-ND1 | c.557T>C (p.Phe186Ser) | COSMIC COSMIC |
| MT | m.3863T>G | CA414773685 | MT-ND1 | c.557T>G (p.Phe186Cys) | |
| MT | m.3863T= | CA2573328761 | MT-ND1 | c.557T= (p.Phe186=) | |
| MT | m.3864T>A | CA414773687 | MT-ND1 | c.558T>A (p.Phe186Leu) | |
| MT | m.3864T>C | CA913175767 | MT-ND1 | c.558T>C (p.Phe186=) | dbSNP |
| MT | m.3864T>G | CA414773686 | MT-ND1 | c.558T>G (p.Phe186Leu) | |
| MT | m.3864T= | CA2499563629 | MT-ND1 | c.558T= (p.Phe186=) | |
| MT | m.3865A= | CA2499563630 | MT-ND1 | c.559A= (p.Ile187=) | |
| MT | m.3865A>C | CA414773688 | MT-ND1 | c.559A>C (p.Ile187Leu) | |
| MT | m.3865A>G | CA337096705 | MT-ND1 | c.559A>G (p.Ile187Val) | ClinVar dbSNP |
| MT | m.3865A>T | CA414773689 | MT-ND1 | c.559A>T (p.Ile187Phe) | |
| MT | m.3866T>A | CA414773690 | MT-ND1 | c.560T>A (p.Ile187Asn) | |
| MT | m.3866T>C | CA337096707 | MT-ND1 | c.560T>C (p.Ile187Thr) | ClinVar dbSNP |
| MT | m.3866T>G | CA414773691 | MT-ND1 | c.560T>G (p.Ile187Ser) | |
| MT | m.3866T= | CA2499563631 | MT-ND1 | c.560T= (p.Ile187=) | |
| MT | m.3867C>A | CA913175784 | MT-ND1 | c.561C>A (p.Ile187=) | |
| MT | m.3867C= | CA2499563632 | MT-ND1 | c.561C= (p.Ile187=) | |
| MT | m.3867C>G | CA414773692 | MT-ND1 | c.561C>G (p.Ile187Met) | |
| MT | m.3867C>T | CA913175786 | MT-ND1 | c.561C>T (p.Ile187=) | dbSNP |
| MT | m.3868T>A | CA414773693 | MT-ND1 | c.562T>A (p.Ser188Thr) | |
| MT | m.3868T>C | CA414773694 | MT-ND1 | c.562T>C (p.Ser188Pro) | |
| MT | m.3868T>G | CA414773695 | MT-ND1 | c.562T>G (p.Ser188Ala) | |
| MT | m.3868T= | CA2573328769 | MT-ND1 | c.562T= (p.Ser188=) | |
| MT | m.3869C>A | CA414773696 | MT-ND1 | c.563C>A (p.Ser188Tyr) | |
| MT | m.3869C= | CA2573328770 | MT-ND1 | c.563C= (p.Ser188=) | |
| MT | m.3869C>G | CA414773697 | MT-ND1 | c.563C>G (p.Ser188Cys) | |
| MT | m.3869C>T | CA414773698 | MT-ND1 | c.563C>T (p.Ser188Phe) | |
| MT | m.3870C>A | CA913175799 | MT-ND1 | c.564C>A (p.Ser188=) | |
| MT | m.3870C= | CA2573328774 | MT-ND1 | c.564C= (p.Ser188=) | |
| MT | m.3870C>G | CA913175796 | MT-ND1 | c.564C>G (p.Ser188=) | |
| MT | m.3870C>T | CA913175793 | MT-ND1 | c.564C>T (p.Ser188=) | |
| MT | m.3871A= | CA2499563633 | MT-ND1 | c.565A= (p.Thr189=) | |
| MT | m.3871A>C | CA414773699 | MT-ND1 | c.565A>C (p.Thr189Pro) | dbSNP |
| MT | m.3871A>G | CA414773700 | MT-ND1 | c.565A>G (p.Thr189Ala) | |
| MT | m.3871A>T | CA414773701 | MT-ND1 | c.565A>T (p.Thr189Ser) | |
| MT | m.3872C>A | CA414773704 | MT-ND1 | c.566C>A (p.Thr189Lys) | |
| MT | m.3872C= | CA2573328779 | MT-ND1 | c.566C= (p.Thr189=) | |
| MT | m.3872C>G | CA414773703 | MT-ND1 | c.566C>G (p.Thr189Arg) | |
| MT | m.3872C>T | CA414773702 | MT-ND1 | c.566C>T (p.Thr189Ile) | |
| MT | m.3873A= | CA2499563634 | MT-ND1 | c.567A= (p.Thr189=) | |
| MT | m.3873A>C | CA337096709 | MT-ND1 | c.567A>C (p.Thr189=) | |
| MT | m.3873A>G | CA913175822 | MT-ND1 | c.567A>G (p.Thr189=) | dbSNP |
| MT | m.3873A>T | CA337096710 | MT-ND1 | c.567A>T (p.Thr189=) | |
| MT | m.3874C>A | CA414773705 | MT-ND1 | c.568C>A (p.Leu190Ile) | |
| MT | m.3874C= | CA2573328783 | MT-ND1 | c.568C= (p.Leu190=) | |
| MT | m.3874C>G | CA414773706 | MT-ND1 | c.568C>G (p.Leu190Val) | |
| MT | m.3874C>T | CA913175831 | MT-ND1 | c.568C>T (p.Leu190=) | |
| MT | m.3875T>A | CA414773707 | MT-ND1 | c.569T>A (p.Leu190Gln) | |
| MT | m.3875T>C | CA414773708 | MT-ND1 | c.569T>C (p.Leu190Pro) | |
| MT | m.3875T>G | CA414773709 | MT-ND1 | c.569T>G (p.Leu190Arg) | |
| MT | m.3875T= | CA2573328786 | MT-ND1 | c.569T= (p.Leu190=) | |
| MT | m.3876A= | CA2499563635 | MT-ND1 | c.570A= (p.Leu190=) | |
| MT | m.3876A>C | CA913175846 | MT-ND1 | c.570A>C (p.Leu190=) | |
| MT | m.3876A>G | CA913175847 | MT-ND1 | c.570A>G (p.Leu190=) | dbSNP |
| MT | m.3876A>T | CA913175849 | MT-ND1 | c.570A>T (p.Leu190=) | |
| MT | m.3877G>A | CA414773710 | MT-ND1 | c.571G>A (p.Ala191Thr) | dbSNP |
| MT | m.3877G>C | CA414773711 | MT-ND1 | c.571G>C (p.Ala191Pro) | |
| MT | m.3877G= | CA2499563636 | MT-ND1 | c.571G= (p.Ala191=) | |
| MT | m.3877G>T | CA414773712 | MT-ND1 | c.571G>T (p.Ala191Ser) | |
| MT | m.3878C>A | CA414773715 | MT-ND1 | c.572C>A (p.Ala191Glu) | |
| MT | m.3878C= | CA2573328790 | MT-ND1 | c.572C= (p.Ala191=) | |
| MT | m.3878C>G | CA414773714 | MT-ND1 | c.572C>G (p.Ala191Gly) | |
| MT | m.3878C>T | CA414773713 | MT-ND1 | c.572C>T (p.Ala191Val) | |
| MT | m.3879A= | CA2573328792 | MT-ND1 | c.573A= (p.Ala191=) | |
| MT | m.3879A>C | CA913175863 | MT-ND1 | c.573A>C (p.Ala191=) | |
| MT | m.3879A>G | CA913175867 | MT-ND1 | c.573A>G (p.Ala191=) | |
| MT | m.3879A>T | CA913175865 | MT-ND1 | c.573A>T (p.Ala191=) | |
| MT | m.3880G>A | CA414773716 | MT-ND1 | c.574G>A (p.Glu192Lys) | |
| MT | m.3880G>C | CA414773717 | MT-ND1 | c.574G>C (p.Glu192Gln) | |
| MT | m.3880G= | CA2573328794 | MT-ND1 | c.574G= (p.Glu192=) | |
| MT | m.3880G>T | CA414773718 | MT-ND1 | c.574G>T (p.Glu192Ter) | |
| MT | m.3881A= | CA2513107100 | MT-ND1 | c.575A= (p.Glu192=) | |
| MT | m.3881A>C | CA414773719 | MT-ND1 | c.575A>C (p.Glu192Ala) | |
| MT | m.3881A>G | CA414773720 | MT-ND1 | c.575A>G (p.Glu192Gly) | |
| MT | m.3881A>T | CA414773721 | MT-ND1 | c.575A>T (p.Glu192Val) | |
| MT | m.3882G>A | CA337096711 | MT-ND1 | c.576G>A (p.Glu192=) | dbSNP COSMIC COSMIC |
| MT | m.3882G>C | CA414773722 | MT-ND1 | c.576G>C (p.Glu192Asp) | |
| MT | m.3882G= | CA2499563637 | MT-ND1 | c.576G= (p.Glu192=) | |
| MT | m.3882G>T | CA414773723 | MT-ND1 | c.576G>T (p.Glu192Asp) | |
| MT | m.3883A= | CA2573328799 | MT-ND1 | c.577A= (p.Thr193=) | |
| MT | m.3883A>C | CA414773724 | MT-ND1 | c.577A>C (p.Thr193Pro) | |
| MT | m.3883A>G | CA414773725 | MT-ND1 | c.577A>G (p.Thr193Ala) | |
| MT | m.3883A>T | CA414773726 | MT-ND1 | c.577A>T (p.Thr193Ser) | |
| MT | m.3884C>A | CA414773727 | MT-ND1 | c.578C>A (p.Thr193Asn) | |
| MT | m.3884C= | CA2573328801 | MT-ND1 | c.578C= (p.Thr193=) | |
| MT | m.3884C>G | CA414773729 | MT-ND1 | c.578C>G (p.Thr193Ser) | |
| MT | m.3884C>T | CA414773728 | MT-ND1 | c.578C>T (p.Thr193Ile) | |
| MT | m.3885C>A | CA913175892 | MT-ND1 | c.579C>A (p.Thr193=) | |
| MT | m.3885C= | CA2499563638 | MT-ND1 | c.579C= (p.Thr193=) | |
| MT | m.3885C>G | CA913175893 | MT-ND1 | c.579C>G (p.Thr193=) | |
| MT | m.3885C>T | CA913175895 | MT-ND1 | c.579C>T (p.Thr193=) | dbSNP |
| MT | m.3886A= | CA2573328804 | MT-ND1 | c.580A= (p.Asn194=) | |
| MT | m.3886A>C | CA414773730 | MT-ND1 | c.580A>C (p.Asn194His) | |
| MT | m.3886A>G | CA414773731 | MT-ND1 | c.580A>G (p.Asn194Asp) | |
| MT | m.3886A>T | CA414773732 | MT-ND1 | c.580A>T (p.Asn194Tyr) | |
| MT | m.3887A= | CA2499563639 | MT-ND1 | c.581A= (p.Asn194=) | |
| MT | m.3887A>C | CA414773733 | MT-ND1 | c.581A>C (p.Asn194Thr) | |
| MT | m.3887A>G | CA414773734 | MT-ND1 | c.581A>G (p.Asn194Ser) | ClinVar dbSNP |
| MT | m.3887A>T | CA414773735 | MT-ND1 | c.581A>T (p.Asn194Ile) | |
| MT | m.3888C>A | CA414773736 | MT-ND1 | c.582C>A (p.Asn194Lys) | |
| MT | m.3888C= | CA2573328812 | MT-ND1 | c.582C= (p.Asn194=) | |
| MT | m.3888C>G | CA414773737 | MT-ND1 | c.582C>G (p.Asn194Lys) | |
| MT | m.3888C>T | CA913175919 | MT-ND1 | c.582C>T (p.Asn194=) | |
| MT | m.3889C>A | CA913175923 | MT-ND1 | c.583C>A (p.Arg195=) | |
| MT | m.3889C= | CA2573328814 | MT-ND1 | c.583C= (p.Arg195=) | |
| MT | m.3889C>G | CA414773738 | MT-ND1 | c.583C>G (p.Arg195Gly) | |
| MT | m.3889C>T | CA414773739 | MT-ND1 | c.583C>T (p.Arg195Ter) | |
| MT | m.3890G>A | CA345911 | MT-ND1 | c.584G>A (p.Arg195Gln) | ClinVar dbSNP |
| MT | m.3890G>C | CA414773741 | MT-ND1 | c.584G>C (p.Arg195Pro) | |
| MT | m.3890G= | CA2499563640 | MT-ND1 | c.584G= (p.Arg195=) | |
| MT | m.3890G>T | CA414773740 | MT-ND1 | c.584G>T (p.Arg195Leu) | |
| MT | m.3891A= | CA2573328820 | MT-ND1 | c.585A= (p.Arg195=) | |
| MT | m.3891A>C | CA913175940 | MT-ND1 | c.585A>C (p.Arg195=) | |
| MT | m.3891A>G | CA913175942 | MT-ND1 | c.585A>G (p.Arg195=) | |
| MT | m.3891A>T | CA913175943 | MT-ND1 | c.585A>T (p.Arg195=) | |
| MT | m.3892A= | CA2499563641 | MT-ND1 | c.586A= (p.Thr196=) | |
| MT | m.3892A>C | CA414773742 | MT-ND1 | c.586A>C (p.Thr196Pro) | |
| MT | m.3892A>G | CA337096713 | MT-ND1 | c.586A>G (p.Thr196Ala) | ClinVar dbSNP |
| MT | m.3892A>T | CA414773743 | MT-ND1 | c.586A>T (p.Thr196Ser) | |
| MT | m.3893C>A | CA414773744 | MT-ND1 | c.587C>A (p.Thr196Asn) | |
| MT | m.3893C= | CA2573328824 | MT-ND1 | c.587C= (p.Thr196=) | |
| MT | m.3893C>G | CA414773745 | MT-ND1 | c.587C>G (p.Thr196Ser) | |
| MT | m.3893C>T | CA414773746 | MT-ND1 | c.587C>T (p.Thr196Ile) | |
| MT | m.3897dup | CA2740098100 | MT-ND1 | c.591dup (p.Phe198LeufsTer?) | |
| MT | m.3894C>A | CA913175958 | MT-ND1 | c.588C>A (p.Thr196=) | |
| MT | m.3894C= | CA2499563642 | MT-ND1 | c.588C= (p.Thr196=) | |
| MT | m.3894C>G | CA913175960 | MT-ND1 | c.588C>G (p.Thr196=) | |
| MT | m.3894C>T | CA913175962 | MT-ND1 | c.588C>T (p.Thr196=) | dbSNP |
| MT | m.3902_3967del | CA2740098101 | MT-ND1 | c.596_661del (p.Asp199_Phe220del) | |
| MT | m.3895C>A | CA414773747 | MT-ND1 | c.589C>A (p.Pro197Thr) | |
| MT | m.3895C= | CA2573328826 | MT-ND1 | c.589C= (p.Pro197=) | |
| MT | m.3895C>G | CA414773748 | MT-ND1 | c.589C>G (p.Pro197Ala) | |
| MT | m.3895C>T | CA414773749 | MT-ND1 | c.589C>T (p.Pro197Ser) | |
| MT | m.3896C>A | CA414773750 | MT-ND1 | c.590C>A (p.Pro197His) | |
| MT | m.3896C= | CA2573328829 | MT-ND1 | c.590C= (p.Pro197=) | |
| MT | m.3896C>G | CA414773751 | MT-ND1 | c.590C>G (p.Pro197Arg) | |
| MT | m.3896C>T | CA414773752 | MT-ND1 | c.590C>T (p.Pro197Leu) | |
| MT | m.3897C>A | CA913175981 | MT-ND1 | c.591C>A (p.Pro197=) | dbSNP |
| MT | m.3897C= | CA2499563643 | MT-ND1 | c.591C= (p.Pro197=) | |
| MT | m.3897C>G | CA913175977 | MT-ND1 | c.591C>G (p.Pro197=) | |
| MT | m.3897C>T | CA913175979 | MT-ND1 | c.591C>T (p.Pro197=) | |
| MT | m.3898T>A | CA414773753 | MT-ND1 | c.592T>A (p.Phe198Ile) | |
| MT | m.3898T>C | CA414773754 | MT-ND1 | c.592T>C (p.Phe198Leu) | |
| MT | m.3898T>G | CA414773755 | MT-ND1 | c.592T>G (p.Phe198Val) | |
| MT | m.3898T= | CA2573328830 | MT-ND1 | c.592T= (p.Phe198=) | |
| MT | m.3899T>A | CA414773758 | MT-ND1 | c.593T>A (p.Phe198Tyr) | |
| MT | m.3899T>C | CA414773756 | MT-ND1 | c.593T>C (p.Phe198Ser) | |
| MT | m.3899T>G | CA414773757 | MT-ND1 | c.593T>G (p.Phe198Cys) | |
| MT | m.3899T= | CA2573328832 | MT-ND1 | c.593T= (p.Phe198=) | |
| MT | m.3900C>A | CA414773759 | MT-ND1 | c.594C>A (p.Phe198Leu) | |
| MT | m.3900C= | CA2573328833 | MT-ND1 | c.594C= (p.Phe198=) | |
| MT | m.3900C>G | CA414773760 | MT-ND1 | c.594C>G (p.Phe198Leu) | |
| MT | m.3900C>T | CA913175996 | MT-ND1 | c.594C>T (p.Phe198=) | dbSNP |
| MT | m.3901G>A | CA414773761 | MT-ND1 | c.595G>A (p.Asp199Asn) | |
| MT | m.3901G>C | CA414773762 | MT-ND1 | c.595G>C (p.Asp199His) | |
| MT | m.3901G= | CA2573328835 | MT-ND1 | c.595G= (p.Asp199=) | |
| MT | m.3901G>T | CA414773763 | MT-ND1 | c.595G>T (p.Asp199Tyr) | |
| MT | m.3902A= | CA2573328837 | MT-ND1 | c.596A= (p.Asp199=) | |
| MT | m.3902A>C | CA414773764 | MT-ND1 | c.596A>C (p.Asp199Ala) | |
| MT | m.3902A>G | CA414773765 | MT-ND1 | c.596A>G (p.Asp199Gly) | |
| MT | m.3902A>T | CA414773766 | MT-ND1 | c.596A>T (p.Asp199Val) | |
| MT | m.3902_3908delinsGCAAGGT | CA082749 | MT-ND1 | c.596_602delinsGCAAGGT (p.Asp199_Ala201delinsGlyLysVal) | ClinVar |
| MT | m.3903C>A | CA414773767 | MT-ND1 | c.597C>A (p.Asp199Glu) | |
| MT | m.3903C= | CA2499563644 | MT-ND1 | c.597C= (p.Asp199=) | |
| MT | m.3903C>G | CA414773768 | MT-ND1 | c.597C>G (p.Asp199Glu) | |
| MT | m.3903C>T | CA913176025 | MT-ND1 | c.597C>T (p.Asp199=) | dbSNP |
| MT | m.3904C>A | CA414773771 | MT-ND1 | c.598C>A (p.Leu200Ile) | |
| MT | m.3904C= | CA2573328840 | MT-ND1 | c.598C= (p.Leu200=) | |
| MT | m.3904C>G | CA414773770 | MT-ND1 | c.598C>G (p.Leu200Val) | |
| MT | m.3904C>T | CA414773769 | MT-ND1 | c.598C>T (p.Leu200Phe) | |
| MT | m.3905T>A | CA414773772 | MT-ND1 | c.599T>A (p.Leu200His) | |
| MT | m.3905T>C | CA414773773 | MT-ND1 | c.599T>C (p.Leu200Pro) | |
| MT | m.3905T>G | CA414773774 | MT-ND1 | c.599T>G (p.Leu200Arg) | |
| MT | m.3905T= | CA2573328842 | MT-ND1 | c.599T= (p.Leu200=) | |
| MT | m.3906T>A | CA913176044 | MT-ND1 | c.600T>A (p.Leu200=) | |
| MT | m.3906T>C | CA913176041 | MT-ND1 | c.600T>C (p.Leu200=) | dbSNP |
| MT | m.3906T>G | CA913176040 | MT-ND1 | c.600T>G (p.Leu200=) | |
| MT | m.3906T= | CA2499563645 | MT-ND1 | c.600T= (p.Leu200=) | |
| MT | m.3907G>A | CA10581197 | MT-ND1 | c.601G>A (p.Ala201Thr) | ClinVar dbSNP |
| MT | m.3907G>C | CA414773775 | MT-ND1 | c.601G>C (p.Ala201Pro) | |
| MT | m.3907G= | CA2499563646 | MT-ND1 | c.601G= (p.Ala201=) | |
| MT | m.3907G>T | CA414773776 | MT-ND1 | c.601G>T (p.Ala201Ser) | |
| MT | m.3908C>A | CA414773777 | MT-ND1 | c.602C>A (p.Ala201Asp) | |
| MT | m.3908C= | CA2573328849 | MT-ND1 | c.602C= (p.Ala201=) | |
| MT | m.3908C>G | CA414773778 | MT-ND1 | c.602C>G (p.Ala201Gly) | |
| MT | m.3908C>T | CA414773779 | MT-ND1 | c.602C>T (p.Ala201Val) | |
| MT | m.3909C>A | CA913176065 | MT-ND1 | c.603C>A (p.Ala201=) | |
| MT | m.3909C= | CA2499563647 | MT-ND1 | c.603C= (p.Ala201=) | |
| MT | m.3909C>G | CA913176067 | MT-ND1 | c.603C>G (p.Ala201=) | |
| MT | m.3909C>T | CA913176077 | MT-ND1 | c.603C>T (p.Ala201=) | dbSNP |
| MT | m.3910G>A | CA414773780 | MT-ND1 | c.604G>A (p.Glu202Lys) | ClinVar dbSNP |
| MT | m.3910G>C | CA414773781 | MT-ND1 | c.604G>C (p.Glu202Gln) | |
| MT | m.3910G= | CA2499563648 | MT-ND1 | c.604G= (p.Glu202=) | |
| MT | m.3910G>T | CA414773782 | MT-ND1 | c.604G>T (p.Glu202Ter) | |
| MT | m.3911A= | CA2573328854 | MT-ND1 | c.605A= (p.Glu202=) | |
| MT | m.3911A>C | CA414773785 | MT-ND1 | c.605A>C (p.Glu202Ala) | |
| MT | m.3911A>G | CA414773783 | MT-ND1 | c.605A>G (p.Glu202Gly) | |
| MT | m.3911A>T | CA414773784 | MT-ND1 | c.605A>T (p.Glu202Val) | |
| MT | m.3912A= | CA2573328857 | MT-ND1 | c.606A= (p.Glu202=) | |
| MT | m.3912A>C | CA414773786 | MT-ND1 | c.606A>C (p.Glu202Asp) | |
| MT | m.3912A>G | CA913176103 | MT-ND1 | c.606A>G (p.Glu202=) | dbSNP |
| MT | m.3912A>T | CA414773787 | MT-ND1 | c.606A>T (p.Glu202Asp) | |
| MT | m.3913G>A | CA414773788 | MT-ND1 | c.607G>A (p.Gly203Arg) | |
| MT | m.3913G>C | CA414773789 | MT-ND1 | c.607G>C (p.Gly203Arg) | |
| MT | m.3913G= | CA2573328859 | MT-ND1 | c.607G= (p.Gly203=) | |
| MT | m.3913G>T | CA414773790 | MT-ND1 | c.607G>T (p.Gly203Trp) | |
| MT | m.3916dup | CA2573104394 | MT-ND1 | c.610dup (p.Glu204GlyfsTer?) | |
| MT | m.3914G>A | CA414773791 | MT-ND1 | c.608G>A (p.Gly203Glu) | |
| MT | m.3914G>C | CA414773792 | MT-ND1 | c.608G>C (p.Gly203Ala) | |
| MT | m.3914G= | CA2573328861 | MT-ND1 | c.608G= (p.Gly203=) | |
| MT | m.3914G>T | CA414773793 | MT-ND1 | c.608G>T (p.Gly203Val) | |
| MT | m.3915G>A | CA337096717 | MT-ND1 | c.609G>A (p.Gly203=) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3915G>C | CA913176122 | MT-ND1 | c.609G>C (p.Gly203=) | |
| MT | m.3915G= | CA2499563649 | MT-ND1 | c.609G= (p.Gly203=) | |
| MT | m.3915G>T | CA913176121 | MT-ND1 | c.609G>T (p.Gly203=) | |
| MT | m.3916G>A | CA337096719 | MT-ND1 | c.610G>A (p.Glu204Lys) | dbSNP |
| MT | m.3916G>C | CA414773794 | MT-ND1 | c.610G>C (p.Glu204Gln) | |
| MT | m.3916G= | CA2499563650 | MT-ND1 | c.610G= (p.Glu204=) | |
| MT | m.3916G>T | CA414773795 | MT-ND1 | c.610G>T (p.Glu204Ter) | |
| MT | m.3917A= | CA2513031064 | MT-ND1 | c.611A= (p.Glu204=) | |
| MT | m.3917A>C | CA414773797 | MT-ND1 | c.611A>C (p.Glu204Ala) | |
| MT | m.3917A>G | CA414773798 | MT-ND1 | c.611A>G (p.Glu204Gly) | |
| MT | m.3917A>T | CA414773796 | MT-ND1 | c.611A>T (p.Glu204Val) | |
| MT | m.3918G>A | CA337096722 | MT-ND1 | c.612G>A (p.Glu204=) | dbSNP |
| MT | m.3918G>C | CA10581198 | MT-ND1 | c.612G>C (p.Glu204Asp) | ClinVar dbSNP |
| MT | m.3918G= | CA2499563651 | MT-ND1 | c.612G= (p.Glu204=) | |
| MT | m.3918G>T | CA414773799 | MT-ND1 | c.612G>T (p.Glu204Asp) | |
| MT | m.3919T>A | CA414773800 | MT-ND1 | c.613T>A (p.Ser205Thr) | |
| MT | m.3919T>C | CA414773801 | MT-ND1 | c.613T>C (p.Ser205Pro) | |
| MT | m.3919T>G | CA414773802 | MT-ND1 | c.613T>G (p.Ser205Ala) | |
| MT | m.3919T= | CA2573328876 | MT-ND1 | c.613T= (p.Ser205=) | |
| MT | m.3920C>A | CA414773803 | MT-ND1 | c.614C>A (p.Ser205Tyr) | |
| MT | m.3920C= | CA2573328877 | MT-ND1 | c.614C= (p.Ser205=) | |
| MT | m.3920C>G | CA414773804 | MT-ND1 | c.614C>G (p.Ser205Cys) | |
| MT | m.3920C>T | CA414773805 | MT-ND1 | c.614C>T (p.Ser205Phe) | |
| MT | m.3921C>A | CA913176144 | MT-ND1 | c.615C>A (p.Ser205=) | ClinVar dbSNP |
| MT | m.3921C= | CA2499563652 | MT-ND1 | c.615C= (p.Ser205=) | |
| MT | m.3921C>G | CA913176149 | MT-ND1 | c.615C>G (p.Ser205=) | |
| MT | m.3921C>T | CA337096724 | MT-ND1 | c.615C>T (p.Ser205=) | dbSNP |
| MT | m.3921_3922insTCCTTCTCCTCCTTCAGCCTGGCTTG | CA2740098102 | MT-ND1 | c.615_616insTCCTTCTCCTCCTTCAGCCTGGCTTG (p.Glu206SerfsTer11) | |
| MT | m.3922G>A | CA414773806 | MT-ND1 | c.616G>A (p.Glu206Lys) | |
| MT | m.3922G>C | CA414773807 | MT-ND1 | c.616G>C (p.Glu206Gln) | |
| MT | m.3922G= | CA2573328882 | MT-ND1 | c.616G= (p.Glu206=) | |
| MT | m.3922G>T | CA414773808 | MT-ND1 | c.616G>T (p.Glu206Ter) | |
| MT | m.3923A= | CA2573328885 | MT-ND1 | c.617A= (p.Glu206=) | |
| MT | m.3923A>C | CA414773809 | MT-ND1 | c.617A>C (p.Glu206Ala) | |
| MT | m.3923A>G | CA414773810 | MT-ND1 | c.617A>G (p.Glu206Gly) | |
| MT | m.3923A>T | CA414773811 | MT-ND1 | c.617A>T (p.Glu206Val) | |
| MT | m.3924A= | CA2573328887 | MT-ND1 | c.618A= (p.Glu206=) | |
| MT | m.3924A>C | CA414773813 | MT-ND1 | c.618A>C (p.Glu206Asp) | |
| MT | m.3924A>G | CA913176172 | MT-ND1 | c.618A>G (p.Glu206=) | dbSNP |
| MT | m.3924A>T | CA414773812 | MT-ND1 | c.618A>T (p.Glu206Asp) | |
| MT | m.3925C>A | CA414773814 | MT-ND1 | c.619C>A (p.Leu207Ile) | |
| MT | m.3925C= | CA2573328890 | MT-ND1 | c.619C= (p.Leu207=) | |
| MT | m.3925C>G | CA414773815 | MT-ND1 | c.619C>G (p.Leu207Val) | |
| MT | m.3925C>T | CA913176180 | MT-ND1 | c.619C>T (p.Leu207=) | |
| MT | m.3926T>A | CA414773816 | MT-ND1 | c.620T>A (p.Leu207Gln) | |
| MT | m.3926T>C | CA414773817 | MT-ND1 | c.620T>C (p.Leu207Pro) | |
| MT | m.3926T>G | CA414773818 | MT-ND1 | c.620T>G (p.Leu207Arg) | |
| MT | m.3926T= | CA2573328894 | MT-ND1 | c.620T= (p.Leu207=) | |
| MT | m.3927A= | CA2499563653 | MT-ND1 | c.621A= (p.Leu207=) | |
| MT | m.3927A>C | CA913176193 | MT-ND1 | c.621A>C (p.Leu207=) | |
| MT | m.3927A>G | CA337096726 | MT-ND1 | c.621A>G (p.Leu207=) | dbSNP |
| MT | m.3927A>T | CA913176190 | MT-ND1 | c.621A>T (p.Leu207=) | |
| MT | m.3928G>A | CA414773819 | MT-ND1 | c.622G>A (p.Val208Ile) | COSMIC COSMIC |
| MT | m.3928G>C | CA345920 | MT-ND1 | c.622G>C (p.Val208Leu) | ClinVar dbSNP |
| MT | m.3928G= | CA2499563654 | MT-ND1 | c.622G= (p.Val208=) | |
| MT | m.3928G>T | CA414773820 | MT-ND1 | c.622G>T (p.Val208Phe) |