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.8852G>A | CA414798496 | MT-ATP6 | c.326G>A (p.Ter109=) | |
| MT | m.8852G>C | CA414798488 | MT-ATP6 | c.326G>C (p.Ter109Ser) | |
| MT | m.8852G= | CA414798493 | MT-ATP6 | c.326G= (p.Ter109=) | |
| MT | m.8852G>T | CA414798491 | MT-ATP6 | c.326G>T (p.Ter109Leu) | |
| MT | m.8853_8856dup | CA2740098163 | MT-ATP6 | c.327_330dup (p.Gly111SerfsTer11) | |
| MT | m.8853A= | CA414798500 | MT-ATP6 | c.327A= (p.Ter109=) | |
| MT | m.8853A>C | CA414798502 | MT-ATP6 | c.327A>C (p.Ter109Cys) | |
| MT | m.8853A>G | CA337098069 | MT-ATP6 | c.327A>G (p.Ter109Trp) | dbSNP |
| MT | m.8853A>T | CA414798505 | MT-ATP6 | c.327A>T (p.Ter109Cys) | |
| MT | m.8854G>A | CA414798511 | MT-ATP6 | c.328G>A (p.Ala110Thr) | ClinVar dbSNP |
| MT | m.8854G>C | CA337098072 | MT-ATP6 | c.328G>C (p.Ala110Pro) | |
| MT | m.8854G= | CA2499565935 | MT-ATP6 | c.328G= (p.Ala110=) | |
| MT | m.8854G>T | CA337098075 | MT-ATP6 | c.328G>T (p.Ala110Ser) | |
| MT | m.8855C>A | CA414798518 | MT-ATP6 | c.329C>A (p.Ala110Glu) | |
| MT | m.8855C= | CA2573330328 | MT-ATP6 | c.329C= (p.Ala110=) | |
| MT | m.8855C>G | CA414798520 | MT-ATP6 | c.329C>G (p.Ala110Gly) | |
| MT | m.8855C>T | CA414798522 | MT-ATP6 | c.329C>T (p.Ala110Val) | dbSNP |
| MT | m.8856G>A | CA10581373 | MT-ATP6 | c.330G>A (p.Ala110=) | ClinVar dbSNP |
| MT | m.8856G>C | CA913180542 | MT-ATP6 | c.330G>C (p.Ala110=) | dbSNP |
| MT | m.8856G= | CA2499565936 | MT-ATP6 | c.330G= (p.Ala110=) | |
| MT | m.8856G>T | CA913180540 | MT-ATP6 | c.330G>T (p.Ala110=) | |
| MT | m.8857G>A | CA337098080 | MT-ATP6 | c.331G>A (p.Gly111Ser) | ClinVar dbSNP |
| MT | m.8857G>C | CA414798528 | MT-ATP6 | c.331G>C (p.Gly111Arg) | |
| MT | m.8857G= | CA2499565937 | MT-ATP6 | c.331G= (p.Gly111=) | |
| MT | m.8857G>T | CA414798530 | MT-ATP6 | c.331G>T (p.Gly111Cys) | |
| MT | m.8858G>A | CA414798536 | MT-ATP6 | c.332G>A (p.Gly111Asp) | |
| MT | m.8858G>C | CA414798538 | MT-ATP6 | c.332G>C (p.Gly111Ala) | |
| MT | m.8858G= | CA2573330349 | MT-ATP6 | c.332G= (p.Gly111=) | |
| MT | m.8858G>T | CA414798540 | MT-ATP6 | c.332G>T (p.Gly111Val) | |
| MT | m.8859C>A | CA913180565 | MT-ATP6 | c.333C>A (p.Gly111=) | |
| MT | m.8859C= | CA2499565938 | MT-ATP6 | c.333C= (p.Gly111=) | |
| MT | m.8859C>G | CA913180564 | MT-ATP6 | c.333C>G (p.Gly111=) | |
| MT | m.8859C>T | CA913180563 | MT-ATP6 | c.333C>T (p.Gly111=) | dbSNP |
| MT | m.8860A= | CA2499565939 | MT-ATP6 | c.334A= (p.Thr112=) | |
| MT | m.8860A>C | CA414798542 | MT-ATP6 | c.334A>C (p.Thr112Pro) | dbSNP |
| MT | m.8860A>G | CA337098084 | MT-ATP6 | c.334A>G (p.Thr112Ala) | ClinVar dbSNP |
| MT | m.8860A>T | CA414798547 | MT-ATP6 | c.334A>T (p.Thr112Ser) | |
| MT | m.8861C>A | CA414798550 | MT-ATP6 | c.335C>A (p.Thr112Lys) | |
| MT | m.8861C= | CA2499565940 | MT-ATP6 | c.335C= (p.Thr112=) | |
| MT | m.8861C>G | CA414798552 | MT-ATP6 | c.335C>G (p.Thr112Arg) | |
| MT | m.8861C>T | CA414798556 | MT-ATP6 | c.335C>T (p.Thr112Ile) | dbSNP |
| MT | m.8862A= | CA2499565941 | MT-ATP6 | c.336A= (p.Thr112=) | |
| MT | m.8862A>C | CA913180575 | MT-ATP6 | c.336A>C (p.Thr112=) | |
| MT | m.8862A>G | CA913180574 | MT-ATP6 | c.336A>G (p.Thr112=) | |
| MT | m.8862A>T | CA913180572 | MT-ATP6 | c.336A>T (p.Thr112=) | dbSNP |
| MT | m.8863G>A | CA414798563 | MT-ATP6 | c.337G>A (p.Val113Met) | ClinVar dbSNP |
| MT | m.8863G>C | CA414798560 | MT-ATP6 | c.337G>C (p.Val113Leu) | |
| MT | m.8863G= | CA2499565942 | MT-ATP6 | c.337G= (p.Val113=) | |
| MT | m.8863G>T | CA414798559 | MT-ATP6 | c.337G>T (p.Val113Leu) | |
| MT | m.8864T>A | CA414798567 | MT-ATP6 | c.338T>A (p.Val113Glu) | |
| MT | m.8864T>C | CA414798570 | MT-ATP6 | c.338T>C (p.Val113Ala) | ClinVar dbSNP |
| MT | m.8864T>G | CA414798571 | MT-ATP6 | c.338T>G (p.Val113Gly) | |
| MT | m.8864T= | CA2499565943 | MT-ATP6 | c.338T= (p.Val113=) | |
| MT | m.8865G>A | CA10581316 | MT-ATP6 | c.339G>A (p.Val113=) | ClinVar dbSNP |
| MT | m.8865G>C | CA913180588 | MT-ATP6 | c.339G>C (p.Val113=) | |
| MT | m.8865G= | CA2499565944 | MT-ATP6 | c.339G= (p.Val113=) | |
| MT | m.8865G>T | CA913180587 | MT-ATP6 | c.339G>T (p.Val113=) | |
| MT | m.8866A= | CA2499565945 | MT-ATP6 | c.340A= (p.Ile114=) | |
| MT | m.8866A>C | CA414798577 | MT-ATP6 | c.340A>C (p.Ile114Leu) | |
| MT | m.8866A>G | CA414798579 | MT-ATP6 | c.340A>G (p.Ile114Val) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.8866A>T | CA414798581 | MT-ATP6 | c.340A>T (p.Ile114Phe) | |
| MT | m.8867T>A | CA414798584 | MT-ATP6 | c.341T>A (p.Ile114Asn) | |
| MT | m.8867T>C | CA414798587 | MT-ATP6 | c.341T>C (p.Ile114Thr) | dbSNP |
| MT | m.8867T>G | CA414798589 | MT-ATP6 | c.341T>G (p.Ile114Ser) | |
| MT | m.8867T= | CA2499565946 | MT-ATP6 | c.341T= (p.Ile114=) | |
| MT | m.8868T>A | CA913180603 | MT-ATP6 | c.342T>A (p.Ile114=) | ClinVar dbSNP |
| MT | m.8868T>C | CA913180601 | MT-ATP6 | c.342T>C (p.Ile114=) | dbSNP |
| MT | m.8868T>G | CA414798592 | MT-ATP6 | c.342T>G (p.Ile114Met) | |
| MT | m.8868T= | CA2499565947 | MT-ATP6 | c.342T= (p.Ile114=) | |
| MT | m.8869A= | CA2499565948 | MT-ATP6 | c.343A= (p.Ile115=) | |
| MT | m.8869A>C | CA337098089 | MT-ATP6 | c.343A>C (p.Ile115Leu) | |
| MT | m.8869A>G | CA337098094 | MT-ATP6 | c.343A>G (p.Ile115Val) | ClinVar dbSNP |
| MT | m.8869A>T | CA337098091 | MT-ATP6 | c.343A>T (p.Ile115Leu) | |
| MT | m.8870T>A | CA414798604 | MT-ATP6 | c.344T>A (p.Ile115Lys) | |
| MT | m.8870T>C | CA414798608 | MT-ATP6 | c.344T>C (p.Ile115Thr) | ClinVar dbSNP |
| MT | m.8870T>G | CA414798606 | MT-ATP6 | c.344T>G (p.Ile115Arg) | |
| MT | m.8870T= | CA2499565949 | MT-ATP6 | c.344T= (p.Ile115=) | |
| MT | m.8871A= | CA2573330422 | MT-ATP6 | c.345A= (p.Ile115=) | |
| MT | m.8871A>C | CA913180612 | MT-ATP6 | c.345A>C (p.Ile115=) | |
| MT | m.8871A>G | CA414798611 | MT-ATP6 | c.345A>G (p.Ile115Met) | |
| MT | m.8871A>T | CA913180611 | MT-ATP6 | c.345A>T (p.Ile115=) | |
| MT | m.8872G>A | CA337098095 | MT-ATP6 | c.346G>A (p.Gly116Ser) | dbSNP |
| MT | m.8872G>C | CA414798616 | MT-ATP6 | c.346G>C (p.Gly116Arg) | |
| MT | m.8872G= | CA2499565950 | MT-ATP6 | c.346G= (p.Gly116=) | |
| MT | m.8872G>T | CA414798619 | MT-ATP6 | c.346G>T (p.Gly116Cys) | |
| MT | m.8873G>A | CA414798622 | MT-ATP6 | c.347G>A (p.Gly116Asp) | |
| MT | m.8873G>C | CA414798625 | MT-ATP6 | c.347G>C (p.Gly116Ala) | ClinVar dbSNP |
| MT | m.8873G= | CA2499565951 | MT-ATP6 | c.347G= (p.Gly116=) | |
| MT | m.8873G>T | CA414798628 | MT-ATP6 | c.347G>T (p.Gly116Val) | |
| MT | m.8874C>A | CA913180624 | MT-ATP6 | c.348C>A (p.Gly116=) | |
| MT | m.8874C= | CA2573330435 | MT-ATP6 | c.348C= (p.Gly116=) | |
| MT | m.8874C>G | CA913180621 | MT-ATP6 | c.348C>G (p.Gly116=) | |
| MT | m.8874C>T | CA913180619 | MT-ATP6 | c.348C>T (p.Gly116=) | |
| MT | m.8875T>A | CA414798632 | MT-ATP6 | c.349T>A (p.Phe117Ile) | |
| MT | m.8875T>C | CA337098097 | MT-ATP6 | c.349T>C (p.Phe117Leu) | ClinVar dbSNP |
| MT | m.8875T>G | CA414798638 | MT-ATP6 | c.349T>G (p.Phe117Val) | |
| MT | m.8875T= | CA2499565952 | MT-ATP6 | c.349T= (p.Phe117=) | |
| MT | m.8876T>A | CA414798656 | MT-ATP6 | c.350T>A (p.Phe117Tyr) | |
| MT | m.8876T>C | CA414798652 | MT-ATP6 | c.350T>C (p.Phe117Ser) | dbSNP |
| MT | m.8876T>G | CA414798649 | MT-ATP6 | c.350T>G (p.Phe117Cys) | |
| MT | m.8876T= | CA2499565953 | MT-ATP6 | c.350T= (p.Phe117=) | |
| MT | m.8877T>A | CA414798660 | MT-ATP6 | c.351T>A (p.Phe117Leu) | |
| MT | m.8877T>C | CA913180633 | MT-ATP6 | c.351T>C (p.Phe117=) | dbSNP |
| MT | m.8877T>G | CA414798662 | MT-ATP6 | c.351T>G (p.Phe117Leu) | |
| MT | m.8877T= | CA2499565954 | MT-ATP6 | c.351T= (p.Phe117=) | |
| MT | m.8878C>A | CA414798666 | MT-ATP6 | c.352C>A (p.Arg118Ser) | |
| MT | m.8878C= | CA2499565955 | MT-ATP6 | c.352C= (p.Arg118=) | |
| MT | m.8878C>G | CA414798669 | MT-ATP6 | c.352C>G (p.Arg118Gly) | |
| MT | m.8878C>T | CA414798670 | MT-ATP6 | c.352C>T (p.Arg118Cys) | ClinVar dbSNP |
| MT | m.8879G>A | CA414798675 | MT-ATP6 | c.353G>A (p.Arg118His) | ClinVar dbSNP |
| MT | m.8879G>C | CA414798678 | MT-ATP6 | c.353G>C (p.Arg118Pro) | |
| MT | m.8879G= | CA2499565956 | MT-ATP6 | c.353G= (p.Arg118=) | |
| MT | m.8879G>T | CA414798680 | MT-ATP6 | c.353G>T (p.Arg118Leu) | |
| MT | m.8880C>A | CA913180647 | MT-ATP6 | c.354C>A (p.Arg118=) | |
| MT | m.8880C= | CA2573330457 | MT-ATP6 | c.354C= (p.Arg118=) | |
| MT | m.8880C>G | CA913180643 | MT-ATP6 | c.354C>G (p.Arg118=) | |
| MT | m.8880C>T | CA913180640 | MT-ATP6 | c.354C>T (p.Arg118=) | |
| MT | m.8881T>A | CA414798683 | MT-ATP6 | c.355T>A (p.Ser119Thr) | |
| MT | m.8881T>C | CA414798686 | MT-ATP6 | c.355T>C (p.Ser119Pro) | dbSNP |
| MT | m.8881T>G | CA414798689 | MT-ATP6 | c.355T>G (p.Ser119Ala) | |
| MT | m.8881T= | CA2499565957 | MT-ATP6 | c.355T= (p.Ser119=) | |
| MT | m.8882C>A | CA414798698 | MT-ATP6 | c.356C>A (p.Ser119Tyr) | |
| MT | m.8882C= | CA2499565958 | MT-ATP6 | c.356C= (p.Ser119=) | |
| MT | m.8882C>G | CA414798695 | MT-ATP6 | c.356C>G (p.Ser119Cys) | |
| MT | m.8882C>T | CA414798693 | MT-ATP6 | c.356C>T (p.Ser119Phe) | dbSNP |
| MT | m.8883T>A | CA913180658 | MT-ATP6 | c.357T>A (p.Ser119=) | |
| MT | m.8883T>C | CA913180657 | MT-ATP6 | c.357T>C (p.Ser119=) | dbSNP |
| MT | m.8883T>G | CA913180656 | MT-ATP6 | c.357T>G (p.Ser119=) | |
| MT | m.8883T= | CA2499565959 | MT-ATP6 | c.357T= (p.Ser119=) | |
| MT | m.8884A= | CA2573330474 | MT-ATP6 | c.358A= (p.Lys120=) | |
| MT | m.8884A>C | CA414798701 | MT-ATP6 | c.358A>C (p.Lys120Gln) | |
| MT | m.8884A>G | CA414798704 | MT-ATP6 | c.358A>G (p.Lys120Glu) | |
| MT | m.8884A>T | CA414798706 | MT-ATP6 | c.358A>T (p.Lys120Ter) | |
| MT | m.8885A= | CA2513164839 | MT-ATP6 | c.359A= (p.Lys120=) | |
| MT | m.8885A>C | CA414798709 | MT-ATP6 | c.359A>C (p.Lys120Thr) | |
| MT | m.8885A>G | CA414798712 | MT-ATP6 | c.359A>G (p.Lys120Arg) | |
| MT | m.8885A>T | CA414798715 | MT-ATP6 | c.359A>T (p.Lys120Met) | |
| MT | m.8886G>A | CA16603213 | MT-ATP6 | c.360G>A (p.Lys120=) | ClinVar dbSNP |
| MT | m.8886G>C | CA414798720 | MT-ATP6 | c.360G>C (p.Lys120Asn) | |
| MT | m.8886G= | CA2499565960 | MT-ATP6 | c.360G= (p.Lys120=) | |
| MT | m.8886G>T | CA414798721 | MT-ATP6 | c.360G>T (p.Lys120Asn) | |
| MT | m.8887A= | CA2499565961 | MT-ATP6 | c.361A= (p.Ile121=) | |
| MT | m.8887A>C | CA414798726 | MT-ATP6 | c.361A>C (p.Ile121Leu) | |
| MT | m.8887A>G | CA414798728 | MT-ATP6 | c.361A>G (p.Ile121Val) | ClinVar dbSNP |
| MT | m.8887A>T | CA414798730 | MT-ATP6 | c.361A>T (p.Ile121Phe) | |
| MT | m.8888T>A | CA414798738 | MT-ATP6 | c.362T>A (p.Ile121Asn) | |
| MT | m.8888T>C | CA414798734 | MT-ATP6 | c.362T>C (p.Ile121Thr) | ClinVar dbSNP |
| MT | m.8888T>G | CA414798736 | MT-ATP6 | c.362T>G (p.Ile121Ser) | |
| MT | m.8888T= | CA2499565962 | MT-ATP6 | c.362T= (p.Ile121=) | |
| MT | m.8889T>A | CA337098104 | MT-ATP6 | c.363T>A (p.Ile121=) | |
| MT | m.8889T>C | CA913180705 | MT-ATP6 | c.363T>C (p.Ile121=) | dbSNP |
| MT | m.8889T>G | CA337098102 | MT-ATP6 | c.363T>G (p.Ile121Met) | |
| MT | m.8889T= | CA2499565963 | MT-ATP6 | c.363T= (p.Ile121=) | |
| MT | m.8890A= | CA2573330489 | MT-ATP6 | c.364A= (p.Lys122=) | |
| MT | m.8890A>C | CA414798747 | MT-ATP6 | c.364A>C (p.Lys122Gln) | |
| MT | m.8890A>G | CA414798749 | MT-ATP6 | c.364A>G (p.Lys122Glu) | |
| MT | m.8890A>T | CA414798753 | MT-ATP6 | c.364A>T (p.Lys122Ter) | |
| MT | m.8891A= | CA2573330492 | MT-ATP6 | c.365A= (p.Lys122=) | |
| MT | m.8891A>C | CA414798756 | MT-ATP6 | c.365A>C (p.Lys122Thr) | |
| MT | m.8891A>G | CA414798758 | MT-ATP6 | c.365A>G (p.Lys122Arg) | |
| MT | m.8891A>T | CA414798761 | MT-ATP6 | c.365A>T (p.Lys122Ile) | |
| MT | m.8892A= | CA2499565964 | MT-ATP6 | c.366A= (p.Lys122=) | |
| MT | m.8892A>C | CA414798764 | MT-ATP6 | c.366A>C (p.Lys122Asn) | |
| MT | m.8892A>G | CA913180736 | MT-ATP6 | c.366A>G (p.Lys122=) | dbSNP |
| MT | m.8892A>T | CA414798766 | MT-ATP6 | c.366A>T (p.Lys122Asn) | |
| MT | m.8893A= | CA2573330500 | MT-ATP6 | c.367A= (p.Asn123=) | |
| MT | m.8893A>C | CA414798771 | MT-ATP6 | c.367A>C (p.Asn123His) | |
| MT | m.8893A>G | CA414798775 | MT-ATP6 | c.367A>G (p.Asn123Asp) | |
| MT | m.8893A>T | CA414798773 | MT-ATP6 | c.367A>T (p.Asn123Tyr) | |
| MT | m.8894A= | CA2499565965 | MT-ATP6 | c.368A= (p.Asn123=) | |
| MT | m.8894A>C | CA414798780 | MT-ATP6 | c.368A>C (p.Asn123Thr) | |
| MT | m.8894A>G | CA414798783 | MT-ATP6 | c.368A>G (p.Asn123Ser) | |
| MT | m.8894A>T | CA414798781 | MT-ATP6 | c.368A>T (p.Asn123Ile) | dbSNP |
| MT | m.8895del | CA2573104997 | MT-ATP6 | c.369del (p.Asn123LysfsTer3) | |
| MT | m.8895T>A | CA414798787 | MT-ATP6 | c.369T>A (p.Asn123Lys) | ClinVar dbSNP |
| MT | m.8895T>C | CA913180744 | MT-ATP6 | c.369T>C (p.Asn123=) | dbSNP |
| MT | m.8895T>G | CA414798789 | MT-ATP6 | c.369T>G (p.Asn123Lys) | dbSNP |
| MT | m.8895T= | CA2499565966 | MT-ATP6 | c.369T= (p.Asn123=) | |
| MT | m.8896G>A | CA337098105 | MT-ATP6 | c.370G>A (p.Ala124Thr) | ClinVar dbSNP |
| MT | m.8896G>C | CA414798796 | MT-ATP6 | c.370G>C (p.Ala124Pro) | |
| MT | m.8896G= | CA2499565967 | MT-ATP6 | c.370G= (p.Ala124=) | |
| MT | m.8896G>T | CA414798793 | MT-ATP6 | c.370G>T (p.Ala124Ser) | |
| MT | m.8897C>A | CA414798801 | MT-ATP6 | c.371C>A (p.Ala124Asp) | |
| MT | m.8897C= | CA2499565968 | MT-ATP6 | c.371C= (p.Ala124=) | |
| MT | m.8897C>G | CA414798804 | MT-ATP6 | c.371C>G (p.Ala124Gly) | |
| MT | m.8897C>T | CA414798807 | MT-ATP6 | c.371C>T (p.Ala124Val) | ClinVar dbSNP |
| MT | m.8898C>A | CA913180758 | MT-ATP6 | c.372C>A (p.Ala124=) | |
| MT | m.8898C= | CA2499565969 | MT-ATP6 | c.372C= (p.Ala124=) | |
| MT | m.8898C>G | CA913180756 | MT-ATP6 | c.372C>G (p.Ala124=) | |
| MT | m.8898C>T | CA913180754 | MT-ATP6 | c.372C>T (p.Ala124=) | dbSNP |
| MT | m.8899C>A | CA414798811 | MT-ATP6 | c.373C>A (p.Leu125Ile) | |
| MT | m.8899C= | CA2499565970 | MT-ATP6 | c.373C= (p.Leu125=) | |
| MT | m.8899C>G | CA414798813 | MT-ATP6 | c.373C>G (p.Leu125Val) | |
| MT | m.8899C>T | CA913180767 | MT-ATP6 | c.373C>T (p.Leu125=) | dbSNP |
| MT | m.8900T>A | CA414798815 | MT-ATP6 | c.374T>A (p.Leu125Gln) | |
| MT | m.8900T>C | CA414798818 | MT-ATP6 | c.374T>C (p.Leu125Pro) | |
| MT | m.8900T>G | CA414798819 | MT-ATP6 | c.374T>G (p.Leu125Arg) | |
| MT | m.8900T= | CA2573330525 | MT-ATP6 | c.374T= (p.Leu125=) | |
| MT | m.8901A= | CA2499565971 | MT-ATP6 | c.375A= (p.Leu125=) | |
| MT | m.8901A>C | CA913180784 | MT-ATP6 | c.375A>C (p.Leu125=) | |
| MT | m.8901A>G | CA913180778 | MT-ATP6 | c.375A>G (p.Leu125=) | dbSNP |
| MT | m.8901A>T | CA913180776 | MT-ATP6 | c.375A>T (p.Leu125=) | |
| MT | m.8901_8902insCATGT | CA2740098164 | MT-ATP6 | c.375_376insCATGT (p.Ala126HisfsTer18) | |
| MT | m.8902G>A | CA414798820 | MT-ATP6 | c.376G>A (p.Ala126Thr) | dbSNP |
| MT | m.8902G>C | CA414798821 | MT-ATP6 | c.376G>C (p.Ala126Pro) | |
| MT | m.8902G= | CA2499565972 | MT-ATP6 | c.376G= (p.Ala126=) | |
| MT | m.8902G>T | CA414798823 | MT-ATP6 | c.376G>T (p.Ala126Ser) | |
| MT | m.8903C>A | CA414798825 | MT-ATP6 | c.377C>A (p.Ala126Asp) | |
| MT | m.8903C= | CA2573330530 | MT-ATP6 | c.377C= (p.Ala126=) | |
| MT | m.8903C>G | CA414798830 | MT-ATP6 | c.377C>G (p.Ala126Gly) | |
| MT | m.8903C>T | CA414798827 | MT-ATP6 | c.377C>T (p.Ala126Val) | |
| MT | m.8904C>A | CA913180796 | MT-ATP6 | c.378C>A (p.Ala126=) | |
| MT | m.8904C= | CA2573330534 | MT-ATP6 | c.378C= (p.Ala126=) | |
| MT | m.8904C>G | CA913180795 | MT-ATP6 | c.378C>G (p.Ala126=) | |
| MT | m.8904C>T | CA913180794 | MT-ATP6 | c.378C>T (p.Ala126=) | |
| MT | m.8905C>A | CA414798834 | MT-ATP6 | c.379C>A (p.His127Asn) | dbSNP |
| MT | m.8905C= | CA2499565973 | MT-ATP6 | c.379C= (p.His127=) | |
| MT | m.8905C>G | CA414798836 | MT-ATP6 | c.379C>G (p.His127Asp) | |
| MT | m.8905C>T | CA414798839 | MT-ATP6 | c.379C>T (p.His127Tyr) | |
| MT | m.8906A= | CA2499565974 | MT-ATP6 | c.380A= (p.His127=) | |
| MT | m.8906A>C | CA414798844 | MT-ATP6 | c.380A>C (p.His127Pro) | ClinVar dbSNP |
| MT | m.8906A>G | CA414798845 | MT-ATP6 | c.380A>G (p.His127Arg) | dbSNP |
| MT | m.8906A>T | CA414798847 | MT-ATP6 | c.380A>T (p.His127Leu) | |
| MT | m.8907C>A | CA414798852 | MT-ATP6 | c.381C>A (p.His127Gln) | |
| MT | m.8907C= | CA2573330540 | MT-ATP6 | c.381C= (p.His127=) | |
| MT | m.8907C>G | CA414798854 | MT-ATP6 | c.381C>G (p.His127Gln) | |
| MT | m.8907C>T | CA913180798 | MT-ATP6 | c.381C>T (p.His127=) | |
| MT | m.8910_8912del | CA2573104999 | MT-ATP6 | c.384_386del (p.Phe128del) | |
| MT | m.8908T>A | CA414798860 | MT-ATP6 | c.382T>A (p.Phe128Ile) | |
| MT | m.8908T>C | CA414798863 | MT-ATP6 | c.382T>C (p.Phe128Leu) | ClinVar dbSNP |
| MT | m.8908T>G | CA414798858 | MT-ATP6 | c.382T>G (p.Phe128Val) | |
| MT | m.8908T= | CA2499565975 | MT-ATP6 | c.382T= (p.Phe128=) | |
| MT | m.8909T>A | CA414798867 | MT-ATP6 | c.383T>A (p.Phe128Tyr) | |
| MT | m.8909T>C | CA414798869 | MT-ATP6 | c.383T>C (p.Phe128Ser) | |
| MT | m.8909T>G | CA414798871 | MT-ATP6 | c.383T>G (p.Phe128Cys) | |
| MT | m.8909T= | CA2573330548 | MT-ATP6 | c.383T= (p.Phe128=) | |
| MT | m.8910C>A | CA414798876 | MT-ATP6 | c.384C>A (p.Phe128Leu) | ClinVar dbSNP |
| MT | m.8910C= | CA2499565976 | MT-ATP6 | c.384C= (p.Phe128=) | |
| MT | m.8910C>G | CA414798878 | MT-ATP6 | c.384C>G (p.Phe128Leu) | |
| MT | m.8910C>T | CA913180803 | MT-ATP6 | c.384C>T (p.Phe128=) | dbSNP |
| MT | m.8911T>A | CA414798881 | MT-ATP6 | c.385T>A (p.Leu129Ile) | |
| MT | m.8911T>C | CA913180807 | MT-ATP6 | c.385T>C (p.Leu129=) | dbSNP |
| MT | m.8911T>G | CA414798884 | MT-ATP6 | c.385T>G (p.Leu129Val) | |
| MT | m.8911T= | CA2499565977 | MT-ATP6 | c.385T= (p.Leu129=) | |
| MT | m.8912T>A | CA414798888 | MT-ATP6 | c.386T>A (p.Leu129Ter) | |
| MT | m.8912T>C | CA414798890 | MT-ATP6 | c.386T>C (p.Leu129Ser) | dbSNP |
| MT | m.8912T>G | CA414798894 | MT-ATP6 | c.386T>G (p.Leu129Ter) | |
| MT | m.8912T= | CA2499565978 | MT-ATP6 | c.386T= (p.Leu129=) | |
| MT | m.8913A= | CA2499565979 | MT-ATP6 | c.387A= (p.Leu129=) | |
| MT | m.8913A>C | CA414798898 | MT-ATP6 | c.387A>C (p.Leu129Phe) | |
| MT | m.8913A>G | CA913180808 | MT-ATP6 | c.387A>G (p.Leu129=) | dbSNP |
| MT | m.8913A>T | CA414798899 | MT-ATP6 | c.387A>T (p.Leu129Phe) | |
| MT | m.8914C>A | CA414798903 | MT-ATP6 | c.388C>A (p.Pro130Thr) | |
| MT | m.8914C= | CA2573330553 | MT-ATP6 | c.388C= (p.Pro130=) | |
| MT | m.8914C>G | CA414798908 | MT-ATP6 | c.388C>G (p.Pro130Ala) | |
| MT | m.8914C>T | CA414798906 | MT-ATP6 | c.388C>T (p.Pro130Ser) | |
| MT | m.8915C>A | CA414798910 | MT-ATP6 | c.389C>A (p.Pro130Gln) | |
| MT | m.8915C= | CA2573330554 | MT-ATP6 | c.389C= (p.Pro130=) | |
| MT | m.8915C>G | CA414798913 | MT-ATP6 | c.389C>G (p.Pro130Arg) | |
| MT | m.8915C>T | CA414798917 | MT-ATP6 | c.389C>T (p.Pro130Leu) | dbSNP |
| MT | m.8916A= | CA2573330555 | MT-ATP6 | c.390A= (p.Pro130=) | |
| MT | m.8916A>C | CA913180819 | MT-ATP6 | c.390A>C (p.Pro130=) | |
| MT | m.8916A>G | CA913180814 | MT-ATP6 | c.390A>G (p.Pro130=) | |
| MT | m.8916A>T | CA913180813 | MT-ATP6 | c.390A>T (p.Pro130=) | |
| MT | m.8917C>A | CA414798921 | MT-ATP6 | c.391C>A (p.Gln131Lys) | |
| MT | m.8917C= | CA2573330559 | MT-ATP6 | c.391C= (p.Gln131=) | |
| MT | m.8917C>G | CA414798924 | MT-ATP6 | c.391C>G (p.Gln131Glu) | |
| MT | m.8917C>T | CA414798926 | MT-ATP6 | c.391C>T (p.Gln131Ter) | |
| MT | m.8918A= | CA2573330561 | MT-ATP6 | c.392A= (p.Gln131=) | |
| MT | m.8918A>C | CA414798930 | MT-ATP6 | c.392A>C (p.Gln131Pro) | |
| MT | m.8918A>G | CA414798934 | MT-ATP6 | c.392A>G (p.Gln131Arg) | |
| MT | m.8918A>T | CA414798936 | MT-ATP6 | c.392A>T (p.Gln131Leu) | |
| MT | m.8919A= | CA2499565980 | MT-ATP6 | c.393A= (p.Gln131=) | |
| MT | m.8919A>C | CA414798939 | MT-ATP6 | c.393A>C (p.Gln131His) | |
| MT | m.8919A>G | CA913180824 | MT-ATP6 | c.393A>G (p.Gln131=) | dbSNP |
| MT | m.8919A>T | CA414798942 | MT-ATP6 | c.393A>T (p.Gln131His) | |
| MT | m.8920G>A | CA337098107 | MT-ATP6 | c.394G>A (p.Gly132Ser) | ClinVar dbSNP |
| MT | m.8920G>C | CA414798947 | MT-ATP6 | c.394G>C (p.Gly132Arg) | |
| MT | m.8920G= | CA2499565981 | MT-ATP6 | c.394G= (p.Gly132=) | |
| MT | m.8920G>T | CA414798945 | MT-ATP6 | c.394G>T (p.Gly132Cys) | |
| MT | m.8921G>A | CA337098109 | MT-ATP6 | c.395G>A (p.Gly132Asp) | ClinVar dbSNP |
| MT | m.8921G>C | CA414798954 | MT-ATP6 | c.395G>C (p.Gly132Ala) | |
| MT | m.8921G= | CA2499565982 | MT-ATP6 | c.395G= (p.Gly132=) | |
| MT | m.8921G>T | CA414798958 | MT-ATP6 | c.395G>T (p.Gly132Val) | |
| MT | m.8922C>A | CA913180828 | MT-ATP6 | c.396C>A (p.Gly132=) | |
| MT | m.8922C= | CA2499565983 | MT-ATP6 | c.396C= (p.Gly132=) | |
| MT | m.8922C>G | CA913180827 | MT-ATP6 | c.396C>G (p.Gly132=) | |
| MT | m.8922C>T | CA913180826 | MT-ATP6 | c.396C>T (p.Gly132=) | dbSNP |
| MT | m.8923A= | CA2499565984 | MT-ATP6 | c.397A= (p.Thr133=) | |
| MT | m.8923A>C | CA414798963 | MT-ATP6 | c.397A>C (p.Thr133Pro) | |
| MT | m.8923A>G | CA337098111 | MT-ATP6 | c.397A>G (p.Thr133Ala) | ClinVar dbSNP |
| MT | m.8923A>T | CA414798967 | MT-ATP6 | c.397A>T (p.Thr133Ser) | dbSNP |
| MT | m.8924C>A | CA414798972 | MT-ATP6 | c.398C>A (p.Thr133Lys) | |
| MT | m.8924C= | CA2573330567 | MT-ATP6 | c.398C= (p.Thr133=) | |
| MT | m.8924C>G | CA414798973 | MT-ATP6 | c.398C>G (p.Thr133Arg) | |
| MT | m.8924C>T | CA414798977 | MT-ATP6 | c.398C>T (p.Thr133Ile) | |
| MT | m.8925A= | CA2573330568 | MT-ATP6 | c.399A= (p.Thr133=) | |
| MT | m.8925A>C | CA913180832 | MT-ATP6 | c.399A>C (p.Thr133=) | |
| MT | m.8925A>G | CA913180831 | MT-ATP6 | c.399A>G (p.Thr133=) | dbSNP |
| MT | m.8925A>T | CA913180830 | MT-ATP6 | c.399A>T (p.Thr133=) | |
| MT | m.8926C>A | CA414798981 | MT-ATP6 | c.400C>A (p.Pro134Thr) | |
| MT | m.8926C= | CA2499565985 | MT-ATP6 | c.400C= (p.Pro134=) | |
| MT | m.8926C>G | CA414798983 | MT-ATP6 | c.400C>G (p.Pro134Ala) | |
| MT | m.8926C>T | CA414798986 | MT-ATP6 | c.400C>T (p.Pro134Ser) | dbSNP |
| MT | m.8927C>A | CA414798989 | MT-ATP6 | c.401C>A (p.Pro134His) | |
| MT | m.8927C= | CA2499565986 | MT-ATP6 | c.401C= (p.Pro134=) | |
| MT | m.8927C>G | CA414798992 | MT-ATP6 | c.401C>G (p.Pro134Arg) | |
| MT | m.8927C>T | CA337098114 | MT-ATP6 | c.401C>T (p.Pro134Leu) | dbSNP |
| MT | m.8928T>A | CA913180835 | MT-ATP6 | c.402T>A (p.Pro134=) | |
| MT | m.8928T>C | CA337098117 | MT-ATP6 | c.402T>C (p.Pro134=) | dbSNP |
| MT | m.8928T>G | CA913180834 | MT-ATP6 | c.402T>G (p.Pro134=) | |
| MT | m.8928T= | CA2499565987 | MT-ATP6 | c.402T= (p.Pro134=) | |
| MT | m.8929A= | CA2499565988 | MT-ATP6 | c.403A= (p.Thr135=) | |
| MT | m.8929A>C | CA414799000 | MT-ATP6 | c.403A>C (p.Thr135Pro) | |
| MT | m.8929A>G | CA414799001 | MT-ATP6 | c.403A>G (p.Thr135Ala) | dbSNP |
| MT | m.8929A>T | CA414799005 | MT-ATP6 | c.403A>T (p.Thr135Ser) | |
| MT | m.8930C>A | CA414799009 | MT-ATP6 | c.404C>A (p.Thr135Lys) | |
| MT | m.8930C= | CA2499565989 | MT-ATP6 | c.404C= (p.Thr135=) | |
| MT | m.8930C>G | CA414799011 | MT-ATP6 | c.404C>G (p.Thr135Arg) | |
| MT | m.8930C>T | CA414799014 | MT-ATP6 | c.404C>T (p.Thr135Ile) | ClinVar dbSNP |
| MT | m.8931A= | CA2499565990 | MT-ATP6 | c.405A= (p.Thr135=) | |
| MT | m.8931A>C | CA913180847 | MT-ATP6 | c.405A>C (p.Thr135=) | |
| MT | m.8931A>G | CA913180848 | MT-ATP6 | c.405A>G (p.Thr135=) | dbSNP |
| MT | m.8931A>T | CA913180849 | MT-ATP6 | c.405A>T (p.Thr135=) | |
| MT | m.8932C>A | CA414799018 | MT-ATP6 | c.406C>A (p.Pro136Thr) | |
| MT | m.8932C= | CA2499565991 | MT-ATP6 | c.406C= (p.Pro136=) | |
| MT | m.8932C>G | CA414799020 | MT-ATP6 | c.406C>G (p.Pro136Ala) | |
| MT | m.8932C>T | CA10581280 | MT-ATP6 | c.406C>T (p.Pro136Ser) | ClinVar dbSNP |
| MT | m.8933C>A | CA414799026 | MT-ATP6 | c.407C>A (p.Pro136His) | |
| MT | m.8933C= | CA2499565992 | MT-ATP6 | c.407C= (p.Pro136=) | |
| MT | m.8933C>G | CA414799029 | MT-ATP6 | c.407C>G (p.Pro136Arg) | |
| MT | m.8933C>T | CA414799030 | MT-ATP6 | c.407C>T (p.Pro136Leu) | ClinVar dbSNP |
| MT | m.8934C>A | CA913180858 | MT-ATP6 | c.408C>A (p.Pro136=) | |
| MT | m.8934C= | CA2499565993 | MT-ATP6 | c.408C= (p.Pro136=) | |
| MT | m.8934C>G | CA913180856 | MT-ATP6 | c.408C>G (p.Pro136=) | |
| MT | m.8934C>T | CA913180857 | MT-ATP6 | c.408C>T (p.Pro136=) | dbSNP |
| MT | m.8935C>A | CA414799035 | MT-ATP6 | c.409C>A (p.Leu137Ile) | |
| MT | m.8935C= | CA2499565994 | MT-ATP6 | c.409C= (p.Leu137=) | |
| MT | m.8935C>G | CA414799038 | MT-ATP6 | c.409C>G (p.Leu137Val) | |
| MT | m.8935C>T | CA337098121 | MT-ATP6 | c.409C>T (p.Leu137Phe) | ClinVar dbSNP |
| MT | m.8936T>A | CA414799043 | MT-ATP6 | c.410T>A (p.Leu137His) | ClinVar dbSNP |
| MT | m.8936T>C | CA414799046 | MT-ATP6 | c.410T>C (p.Leu137Pro) | ClinVar dbSNP |
| MT | m.8936T>G | CA414799048 | MT-ATP6 | c.410T>G (p.Leu137Arg) | |
| MT | m.8936T= | CA2499565995 | MT-ATP6 | c.410T= (p.Leu137=) | |
| MT | m.8937dup | CA2740098165 | MT-ATP6 | c.411dup (p.Ile138TyrfsTer26) | |
| MT | m.8937del | CA2573105000 | MT-ATP6 | c.411del (p.Ile138SerfsTer4) | |
| MT | m.8937T>A | CA913180865 | MT-ATP6 | c.411T>A (p.Leu137=) | |
| MT | m.8937T>C | CA645611399 | MT-ATP6 | c.411T>C (p.Leu137=) | dbSNP COSMIC COSMIC |
| MT | m.8937T>G | CA913180861 | MT-ATP6 | c.411T>G (p.Leu137=) | |
| MT | m.8937T= | CA2499565996 | MT-ATP6 | c.411T= (p.Leu137=) | |
| MT | m.8938A= | CA2499565997 | MT-ATP6 | c.412A= (p.Ile138=) | |
| MT | m.8938A>C | CA414799053 | MT-ATP6 | c.412A>C (p.Ile138Leu) | |
| MT | m.8938A>G | CA414799055 | MT-ATP6 | c.412A>G (p.Ile138Val) | ClinVar dbSNP |
| MT | m.8938A>T | CA414799057 | MT-ATP6 | c.412A>T (p.Ile138Phe) | |
| MT | m.8939T>A | CA414799061 | MT-ATP6 | c.413T>A (p.Ile138Asn) | |
| MT | m.8939T>C | CA414799062 | MT-ATP6 | c.413T>C (p.Ile138Thr) | ClinVar dbSNP |
| MT | m.8939T>G | CA414799065 | MT-ATP6 | c.413T>G (p.Ile138Ser) | |
| MT | m.8939T= | CA2499565998 | MT-ATP6 | c.413T= (p.Ile138=) | |
| MT | m.8940C>A | CA913180872 | MT-ATP6 | c.414C>A (p.Ile138=) | |
| MT | m.8940C= | CA2499565999 | MT-ATP6 | c.414C= (p.Ile138=) | |
| MT | m.8940C>G | CA414799067 | MT-ATP6 | c.414C>G (p.Ile138Met) | |
| MT | m.8940C>T | CA913180870 | MT-ATP6 | c.414C>T (p.Ile138=) | dbSNP |
| MT | m.8941C>A | CA414799077 | MT-ATP6 | c.415C>A (p.Pro139Thr) | |
| MT | m.8941C= | CA2499566000 | MT-ATP6 | c.415C= (p.Pro139=) | |
| MT | m.8941C>G | CA414799074 | MT-ATP6 | c.415C>G (p.Pro139Ala) | |
| MT | m.8941C>T | CA414799071 | MT-ATP6 | c.415C>T (p.Pro139Ser) | ClinVar dbSNP |
| MT | m.8942C>A | CA414799081 | MT-ATP6 | c.416C>A (p.Pro139His) | |
| MT | m.8942C= | CA2573330582 | MT-ATP6 | c.416C= (p.Pro139=) | |
| MT | m.8942C>G | CA414799083 | MT-ATP6 | c.416C>G (p.Pro139Arg) | |
| MT | m.8942C>T | CA414799086 | MT-ATP6 | c.416C>T (p.Pro139Leu) | |
| MT | m.8943C>A | CA913180876 | MT-ATP6 | c.417C>A (p.Pro139=) | |
| MT | m.8943C= | CA2499566001 | MT-ATP6 | c.417C= (p.Pro139=) | |
| MT | m.8943C>G | CA913180877 | MT-ATP6 | c.417C>G (p.Pro139=) | |
| MT | m.8943C>T | CA16603352 | MT-ATP6 | c.417C>T (p.Pro139=) | ClinVar dbSNP |
| MT | m.8944A= | CA2499566002 | MT-ATP6 | c.418A= (p.Ile140=) | |
| MT | m.8944A>C | CA414799090 | MT-ATP6 | c.418A>C (p.Ile140Leu) | |
| MT | m.8944A>G | CA414799093 | MT-ATP6 | c.418A>G (p.Ile140Val) | ClinVar dbSNP |
| MT | m.8944A>T | CA414799095 | MT-ATP6 | c.418A>T (p.Ile140Leu) | |
| MT | m.8945T>A | CA414799100 | MT-ATP6 | c.419T>A (p.Ile140Lys) | |
| MT | m.8945T>C | CA414799101 | MT-ATP6 | c.419T>C (p.Ile140Thr) | dbSNP |
| MT | m.8945T>G | CA414799106 | MT-ATP6 | c.419T>G (p.Ile140Arg) | |
| MT | m.8945T= | CA2499566003 | MT-ATP6 | c.419T= (p.Ile140=) | |
| MT | m.8946A= | CA2499566004 | MT-ATP6 | c.420A= (p.Ile140=) | |
| MT | m.8946A>C | CA913180888 | MT-ATP6 | c.420A>C (p.Ile140=) | |
| MT | m.8946A>G | CA337098124 | MT-ATP6 | c.420A>G (p.Ile140Met) | dbSNP |
| MT | m.8946A>T | CA913180885 | MT-ATP6 | c.420A>T (p.Ile140=) | ClinVar dbSNP |
| MT | m.8947C>A | CA414799110 | MT-ATP6 | c.421C>A (p.Leu141Ile) | |
| MT | m.8947C= | CA2499566005 | MT-ATP6 | c.421C= (p.Leu141=) | |
| MT | m.8947C>G | CA414799113 | MT-ATP6 | c.421C>G (p.Leu141Val) | |
| MT | m.8947C>T | CA913180890 | MT-ATP6 | c.421C>T (p.Leu141=) | dbSNP |
| MT | m.8948T>A | CA414799119 | MT-ATP6 | c.422T>A (p.Leu141Gln) | |
| MT | m.8948T>C | CA414799121 | MT-ATP6 | c.422T>C (p.Leu141Pro) | |
| MT | m.8948T>G | CA414799116 | MT-ATP6 | c.422T>G (p.Leu141Arg) | |
| MT | m.8948T= | CA2573330590 | MT-ATP6 | c.422T= (p.Leu141=) | |
| MT | m.8949A= | CA2513262467 | MT-ATP6 | c.423A= (p.Leu141=) | |
| MT | m.8949A>C | CA913180899 | MT-ATP6 | c.423A>C (p.Leu141=) | |
| MT | m.8949A>G | CA913180898 | MT-ATP6 | c.423A>G (p.Leu141=) | |
| MT | m.8949A>T | CA913180897 | MT-ATP6 | c.423A>T (p.Leu141=) | |
| MT | m.8950G>A | CA414799126 | MT-ATP6 | c.424G>A (p.Val142Ile) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.8950G>C | CA414799130 | MT-ATP6 | c.424G>C (p.Val142Leu) | |
| MT | m.8950G= | CA2499566006 | MT-ATP6 | c.424G= (p.Val142=) | |
| MT | m.8950G>T | CA414799128 | MT-ATP6 | c.424G>T (p.Val142Phe) | |
| MT | m.8951T>A | CA414799135 | MT-ATP6 | c.425T>A (p.Val142Asp) | |
| MT | m.8951T>C | CA414799139 | MT-ATP6 | c.425T>C (p.Val142Ala) | ClinVar dbSNP |
| MT | m.8951T>G | CA414799136 | MT-ATP6 | c.425T>G (p.Val142Gly) | |
| MT | m.8951T= | CA2499566007 | MT-ATP6 | c.425T= (p.Val142=) | |
| MT | m.8952T>A | CA913180905 | MT-ATP6 | c.426T>A (p.Val142=) | |
| MT | m.8952T>C | CA913180904 | MT-ATP6 | c.426T>C (p.Val142=) | dbSNP |
| MT | m.8952T>G | CA913180903 | MT-ATP6 | c.426T>G (p.Val142=) | |
| MT | m.8952T= | CA2499566008 | MT-ATP6 | c.426T= (p.Val142=) |