OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.8688_8778del | CA2573105022 | MT-ATP6 | c.162_252del (p.Lys55SerfsTer16) | |
| MT | m.8702C>A | CA414797534 | MT-ATP6 | c.176C>A (p.Thr59Asn) | |
| MT | m.8702C= | CA2499565787 | MT-ATP6 | c.176C= (p.Thr59=) | |
| MT | m.8702C>G | CA414797537 | MT-ATP6 | c.176C>G (p.Thr59Ser) | |
| MT | m.8702C>T | CA414797539 | MT-ATP6 | c.176C>T (p.Thr59Ile) | ClinVar dbSNP |
| MT | m.8703C>A | CA913179650 | MT-ATP6 | c.177C>A (p.Thr59=) | |
| MT | m.8703C= | CA2499565788 | MT-ATP6 | c.177C= (p.Thr59=) | |
| MT | m.8703C>G | CA913179649 | MT-ATP6 | c.177C>G (p.Thr59=) | |
| MT | m.8703C>T | CA913179648 | MT-ATP6 | c.177C>T (p.Thr59=) | dbSNP |
| MT | m.8704A= | CA2499565789 | MT-ATP6 | c.178A= (p.Ile60=) | |
| MT | m.8704A>C | CA414797546 | MT-ATP6 | c.178A>C (p.Ile60Leu) | |
| MT | m.8704A>G | CA10581258 | MT-ATP6 | c.178A>G (p.Ile60Val) | ClinVar dbSNP |
| MT | m.8704A>T | CA414797543 | MT-ATP6 | c.178A>T (p.Ile60Leu) | |
| MT | m.8705T>A | CA414797551 | MT-ATP6 | c.179T>A (p.Ile60Lys) | |
| MT | m.8705T>C | CA337097996 | MT-ATP6 | c.179T>C (p.Ile60Thr) | ClinVar dbSNP |
| MT | m.8705T>G | CA414797555 | MT-ATP6 | c.179T>G (p.Ile60Arg) | |
| MT | m.8705T= | CA2499565791 | MT-ATP6 | c.179T= (p.Ile60=) | |
| MT | m.8705_8706insTTAAGGA | CA2740098151 | MT-ATP6 | c.179_180insTTAAGGA (p.His61Ter) | |
| MT | m.8706A= | CA2499565793 | MT-ATP6 | c.180A= (p.Ile60=) | |
| MT | m.8706A>C | CA913179656 | MT-ATP6 | c.180A>C (p.Ile60=) | |
| MT | m.8706A>G | CA414797558 | MT-ATP6 | c.180A>G (p.Ile60Met) | dbSNP |
| MT | m.8706A>T | CA913179658 | MT-ATP6 | c.180A>T (p.Ile60=) | |
| MT | m.8707C>A | CA414797561 | MT-ATP6 | c.181C>A (p.His61Asn) | |
| MT | m.8707C= | CA2573330042 | MT-ATP6 | c.181C= (p.His61=) | |
| MT | m.8707C>G | CA414797563 | MT-ATP6 | c.181C>G (p.His61Asp) | |
| MT | m.8707C>T | CA414797566 | MT-ATP6 | c.181C>T (p.His61Tyr) | |
| MT | m.8707_8708insTAG | CA2740098152 | MT-ATP6 | c.181_182insTAG (p.His61delinsLeuAsp) | |
| MT | m.8708A= | CA2573330044 | MT-ATP6 | c.182A= (p.His61=) | |
| MT | m.8708A>C | CA414797568 | MT-ATP6 | c.182A>C (p.His61Pro) | |
| MT | m.8708A>G | CA414797570 | MT-ATP6 | c.182A>G (p.His61Arg) | |
| MT | m.8708A>T | CA414797572 | MT-ATP6 | c.182A>T (p.His61Leu) | |
| MT | m.8709C>A | CA414797576 | MT-ATP6 | c.183C>A (p.His61Gln) | |
| MT | m.8709C= | CA2499565794 | MT-ATP6 | c.183C= (p.His61=) | |
| MT | m.8709C>G | CA414797579 | MT-ATP6 | c.183C>G (p.His61Gln) | |
| MT | m.8709C>T | CA913179662 | MT-ATP6 | c.183C>T (p.His61=) | dbSNP |
| MT | m.8710A= | CA2573330046 | MT-ATP6 | c.184A= (p.Asn62=) | |
| MT | m.8710A>C | CA414797583 | MT-ATP6 | c.184A>C (p.Asn62His) | |
| MT | m.8710A>G | CA414797585 | MT-ATP6 | c.184A>G (p.Asn62Asp) | |
| MT | m.8710A>T | CA414797584 | MT-ATP6 | c.184A>T (p.Asn62Tyr) | |
| MT | m.8711A= | CA2499565796 | MT-ATP6 | c.185A= (p.Asn62=) | |
| MT | m.8711A>C | CA414797588 | MT-ATP6 | c.185A>C (p.Asn62Thr) | |
| MT | m.8711A>G | CA414797591 | MT-ATP6 | c.185A>G (p.Asn62Ser) | ClinVar dbSNP |
| MT | m.8711A>T | CA414797592 | MT-ATP6 | c.185A>T (p.Asn62Ile) | |
| MT | m.8712C>A | CA414797595 | MT-ATP6 | c.186C>A (p.Asn62Lys) | |
| MT | m.8712C= | CA2573330047 | MT-ATP6 | c.186C= (p.Asn62=) | |
| MT | m.8712C>G | CA414797598 | MT-ATP6 | c.186C>G (p.Asn62Lys) | |
| MT | m.8712C>T | CA913179667 | MT-ATP6 | c.186C>T (p.Asn62=) | |
| MT | m.8713A= | CA2499565797 | MT-ATP6 | c.187A= (p.Thr63=) | |
| MT | m.8713A>C | CA414797602 | MT-ATP6 | c.187A>C (p.Thr63Pro) | |
| MT | m.8713A>G | CA414797603 | MT-ATP6 | c.187A>G (p.Thr63Ala) | ClinVar dbSNP |
| MT | m.8713A>T | CA414797608 | MT-ATP6 | c.187A>T (p.Thr63Ser) | |
| MT | m.8714C>A | CA414797611 | MT-ATP6 | c.188C>A (p.Thr63Asn) | |
| MT | m.8714C= | CA2499565799 | MT-ATP6 | c.188C= (p.Thr63=) | |
| MT | m.8714C>G | CA414797614 | MT-ATP6 | c.188C>G (p.Thr63Ser) | |
| MT | m.8714C>T | CA414797617 | MT-ATP6 | c.188C>T (p.Thr63Ile) | ClinVar dbSNP |
| MT | m.8715T>A | CA913179678 | MT-ATP6 | c.189T>A (p.Thr63=) | |
| MT | m.8715T>C | CA913179677 | MT-ATP6 | c.189T>C (p.Thr63=) | dbSNP |
| MT | m.8715T>G | CA913179674 | MT-ATP6 | c.189T>G (p.Thr63=) | |
| MT | m.8715T= | CA2499565801 | MT-ATP6 | c.189T= (p.Thr63=) | |
| MT | m.8716A= | CA2573330051 | MT-ATP6 | c.190A= (p.Lys64=) | |
| MT | m.8716A>C | CA414797626 | MT-ATP6 | c.190A>C (p.Lys64Gln) | |
| MT | m.8716A>G | CA414797623 | MT-ATP6 | c.190A>G (p.Lys64Glu) | |
| MT | m.8716A>T | CA414797620 | MT-ATP6 | c.190A>T (p.Lys64Ter) | |
| MT | m.8718del | CA2573104890 | MT-ATP6 | c.192del (p.Gly65AspfsTer8) | |
| MT | m.8717A= | CA2573330052 | MT-ATP6 | c.191A= (p.Lys64=) | |
| MT | m.8717A>C | CA414797632 | MT-ATP6 | c.191A>C (p.Lys64Thr) | |
| MT | m.8717A>G | CA414797629 | MT-ATP6 | c.191A>G (p.Lys64Arg) | |
| MT | m.8717A>T | CA414797633 | MT-ATP6 | c.191A>T (p.Lys64Ile) | |
| MT | m.8718A= | CA2499565803 | MT-ATP6 | c.192A= (p.Lys64=) | |
| MT | m.8718A>C | CA414797637 | MT-ATP6 | c.192A>C (p.Lys64Asn) | |
| MT | m.8718A>G | CA913179681 | MT-ATP6 | c.192A>G (p.Lys64=) | dbSNP |
| MT | m.8718A>T | CA414797639 | MT-ATP6 | c.192A>T (p.Lys64Asn) | |
| MT | m.8719G>A | CA337098000 | MT-ATP6 | c.193G>A (p.Gly65Arg) | ClinVar dbSNP |
| MT | m.8719G>C | CA414797644 | MT-ATP6 | c.193G>C (p.Gly65Arg) | |
| MT | m.8719G= | CA2499565805 | MT-ATP6 | c.193G= (p.Gly65=) | |
| MT | m.8719G>T | CA414797647 | MT-ATP6 | c.193G>T (p.Gly65Ter) | |
| MT | m.8720G>A | CA414797652 | MT-ATP6 | c.194G>A (p.Gly65Glu) | ClinVar dbSNP |
| MT | m.8720G>C | CA414797654 | MT-ATP6 | c.194G>C (p.Gly65Ala) | ClinVar dbSNP |
| MT | m.8720G= | CA2499565809 | MT-ATP6 | c.194G= (p.Gly65=) | |
| MT | m.8720G>T | CA414797656 | MT-ATP6 | c.194G>T (p.Gly65Val) | |
| MT | m.8721A= | CA2499565811 | MT-ATP6 | c.195A= (p.Gly65=) | |
| MT | m.8721A>C | CA913179688 | MT-ATP6 | c.195A>C (p.Gly65=) | |
| MT | m.8721A>G | CA913179690 | MT-ATP6 | c.195A>G (p.Gly65=) | dbSNP |
| MT | m.8721A>T | CA913179687 | MT-ATP6 | c.195A>T (p.Gly65=) | |
| MT | m.8722C>A | CA913179693 | MT-ATP6 | c.196C>A (p.Arg66=) | |
| MT | m.8722C= | CA2499565813 | MT-ATP6 | c.196C= (p.Arg66=) | |
| MT | m.8722C>G | CA414797659 | MT-ATP6 | c.196C>G (p.Arg66Gly) | |
| MT | m.8722C>T | CA414797660 | MT-ATP6 | c.196C>T (p.Arg66Ter) | ClinVar dbSNP |
| MT | m.8723G>A | CA414797669 | MT-ATP6 | c.197G>A (p.Arg66Gln) | ClinVar dbSNP |
| MT | m.8723G>C | CA414797667 | MT-ATP6 | c.197G>C (p.Arg66Pro) | |
| MT | m.8723G= | CA2499565815 | MT-ATP6 | c.197G= (p.Arg66=) | |
| MT | m.8723G>T | CA414797665 | MT-ATP6 | c.197G>T (p.Arg66Leu) | ClinVar |
| MT | m.8724A= | CA2573330059 | MT-ATP6 | c.198A= (p.Arg66=) | |
| MT | m.8724A>C | CA913179694 | MT-ATP6 | c.198A>C (p.Arg66=) | |
| MT | m.8724A>G | CA913179695 | MT-ATP6 | c.198A>G (p.Arg66=) | dbSNP |
| MT | m.8724A>T | CA913179696 | MT-ATP6 | c.198A>T (p.Arg66=) | |
| MT | m.8725A= | CA2499565817 | MT-ATP6 | c.199A= (p.Thr67=) | |
| MT | m.8725A>C | CA414797674 | MT-ATP6 | c.199A>C (p.Thr67Pro) | |
| MT | m.8725A>G | CA337098004 | MT-ATP6 | c.199A>G (p.Thr67Ala) | ClinVar dbSNP |
| MT | m.8725A>T | CA414797677 | MT-ATP6 | c.199A>T (p.Thr67Ser) | |
| MT | m.8726C>A | CA414797681 | MT-ATP6 | c.200C>A (p.Thr67Asn) | |
| MT | m.8726C= | CA2573330061 | MT-ATP6 | c.200C= (p.Thr67=) | |
| MT | m.8726C>G | CA414797683 | MT-ATP6 | c.200C>G (p.Thr67Ser) | |
| MT | m.8726C>T | CA414797686 | MT-ATP6 | c.200C>T (p.Thr67Ile) | |
| MT | m.8727C>A | CA913179702 | MT-ATP6 | c.201C>A (p.Thr67=) | dbSNP |
| MT | m.8727C= | CA2499565820 | MT-ATP6 | c.201C= (p.Thr67=) | |
| MT | m.8727C>G | CA913179701 | MT-ATP6 | c.201C>G (p.Thr67=) | |
| MT | m.8727C>T | CA913179704 | MT-ATP6 | c.201C>T (p.Thr67=) | dbSNP |
| MT | m.8728T>A | CA414797690 | MT-ATP6 | c.202T>A (p.Ter68Arg) | |
| MT | m.8728T>C | CA414797692 | MT-ATP6 | c.202T>C (p.Ter68Arg) | ClinVar dbSNP |
| MT | m.8728T>G | CA414797696 | MT-ATP6 | c.202T>G (p.Ter68Gly) | |
| MT | m.8728T= | CA414797698 | MT-ATP6 | c.202T= (p.Ter68=) | |
| MT | m.8729G>A | CA414797708 | MT-ATP6 | c.203G>A (p.Ter68=) | dbSNP |
| MT | m.8729G>C | CA414797711 | MT-ATP6 | c.203G>C (p.Ter68Ser) | |
| MT | m.8729G= | CA414797705 | MT-ATP6 | c.203G= (p.Ter68=) | |
| MT | m.8729G>T | CA414797702 | MT-ATP6 | c.203G>T (p.Ter68Leu) | |
| MT | m.8730A= | CA414797714 | MT-ATP6 | c.204A= (p.Ter68=) | |
| MT | m.8730A>C | CA414797716 | MT-ATP6 | c.204A>C (p.Ter68Cys) | |
| MT | m.8730A>G | CA337098007 | MT-ATP6 | c.204A>G (p.Ter68Trp) | dbSNP |
| MT | m.8730A>T | CA414797720 | MT-ATP6 | c.204A>T (p.Ter68Cys) | |
| MT | m.8731T>A | CA414797723 | MT-ATP6 | c.205T>A (p.Ser69Thr) | ClinVar dbSNP |
| MT | m.8731T>C | CA414797725 | MT-ATP6 | c.205T>C (p.Ser69Pro) | |
| MT | m.8731T>G | CA414797729 | MT-ATP6 | c.205T>G (p.Ser69Ala) | |
| MT | m.8731T= | CA2499565825 | MT-ATP6 | c.205T= (p.Ser69=) | |
| MT | m.8732C>A | CA414797733 | MT-ATP6 | c.206C>A (p.Ser69Tyr) | |
| MT | m.8732C= | CA2573330067 | MT-ATP6 | c.206C= (p.Ser69=) | |
| MT | m.8732C>G | CA414797736 | MT-ATP6 | c.206C>G (p.Ser69Cys) | |
| MT | m.8732C>T | CA414797737 | MT-ATP6 | c.206C>T (p.Ser69Phe) | |
| MT | m.8733T>A | CA913179727 | MT-ATP6 | c.207T>A (p.Ser69=) | |
| MT | m.8733T>C | CA913179731 | MT-ATP6 | c.207T>C (p.Ser69=) | dbSNP |
| MT | m.8733T>G | CA913179721 | MT-ATP6 | c.207T>G (p.Ser69=) | |
| MT | m.8733T= | CA2499565827 | MT-ATP6 | c.207T= (p.Ser69=) | |
| MT | m.8734C>A | CA337098010 | MT-ATP6 | c.208C>A (p.Leu70Ile) | dbSNP |
| MT | m.8734C= | CA2499565829 | MT-ATP6 | c.208C= (p.Leu70=) | |
| MT | m.8734C>G | CA414797741 | MT-ATP6 | c.208C>G (p.Leu70Val) | |
| MT | m.8734C>T | CA414797740 | MT-ATP6 | c.208C>T (p.Leu70Phe) | |
| MT | m.8735T>A | CA414797748 | MT-ATP6 | c.209T>A (p.Leu70His) | |
| MT | m.8735T>C | CA414797750 | MT-ATP6 | c.209T>C (p.Leu70Pro) | ClinVar dbSNP |
| MT | m.8735T>G | CA414797752 | MT-ATP6 | c.209T>G (p.Leu70Arg) | |
| MT | m.8735T= | CA2499565831 | MT-ATP6 | c.209T= (p.Leu70=) | |
| MT | m.8736T>A | CA913179736 | MT-ATP6 | c.210T>A (p.Leu70=) | |
| MT | m.8736T>C | CA337098012 | MT-ATP6 | c.210T>C (p.Leu70=) | dbSNP |
| MT | m.8736T>G | CA913179737 | MT-ATP6 | c.210T>G (p.Leu70=) | |
| MT | m.8736T= | CA2499565833 | MT-ATP6 | c.210T= (p.Leu70=) | |
| MT | m.8737A= | CA2499565835 | MT-ATP6 | c.211A= (p.Ile71=) | |
| MT | m.8737A>C | CA414797758 | MT-ATP6 | c.211A>C (p.Ile71Leu) | |
| MT | m.8737A>G | CA414797761 | MT-ATP6 | c.211A>G (p.Ile71Val) | ClinVar dbSNP |
| MT | m.8737A>T | CA414797764 | MT-ATP6 | c.211A>T (p.Ile71Leu) | |
| MT | m.8738T>A | CA414797767 | MT-ATP6 | c.212T>A (p.Ile71Lys) | |
| MT | m.8738T>C | CA414797768 | MT-ATP6 | c.212T>C (p.Ile71Thr) | |
| MT | m.8738T>G | CA414797771 | MT-ATP6 | c.212T>G (p.Ile71Arg) | |
| MT | m.8738T= | CA2573330078 | MT-ATP6 | c.212T= (p.Ile71=) | |
| MT | m.8739A= | CA2499565837 | MT-ATP6 | c.213A= (p.Ile71=) | |
| MT | m.8739A>C | CA913179754 | MT-ATP6 | c.213A>C (p.Ile71=) | |
| MT | m.8739A>G | CA414797775 | MT-ATP6 | c.213A>G (p.Ile71Met) | dbSNP |
| MT | m.8739A>T | CA913179751 | MT-ATP6 | c.213A>T (p.Ile71=) | |
| MT | m.8740C>A | CA414797778 | MT-ATP6 | c.214C>A (p.Leu72Ile) | |
| MT | m.8740C= | CA2499565839 | MT-ATP6 | c.214C= (p.Leu72=) | |
| MT | m.8740C>G | CA414797780 | MT-ATP6 | c.214C>G (p.Leu72Val) | |
| MT | m.8740C>T | CA913179756 | MT-ATP6 | c.214C>T (p.Leu72=) | dbSNP |
| MT | m.8741T>A | CA414797785 | MT-ATP6 | c.215T>A (p.Leu72Gln) | |
| MT | m.8741T>C | CA414797788 | MT-ATP6 | c.215T>C (p.Leu72Pro) | |
| MT | m.8741T>G | CA414797783 | MT-ATP6 | c.215T>G (p.Leu72Arg) | |
| MT | m.8741T= | CA2573330080 | MT-ATP6 | c.215T= (p.Leu72=) | |
| MT | m.8742A= | CA2499565841 | MT-ATP6 | c.216A= (p.Leu72=) | |
| MT | m.8742A>C | CA913179774 | MT-ATP6 | c.216A>C (p.Leu72=) | |
| MT | m.8742A>G | CA913179769 | MT-ATP6 | c.216A>G (p.Leu72=) | dbSNP |
| MT | m.8742A>T | CA913179767 | MT-ATP6 | c.216A>T (p.Leu72=) | |
| MT | m.8743G>A | CA414797790 | MT-ATP6 | c.217G>A (p.Val73Ile) | dbSNP |
| MT | m.8743G>C | CA337098015 | MT-ATP6 | c.217G>C (p.Val73Leu) | dbSNP |
| MT | m.8743G= | CA2499565843 | MT-ATP6 | c.217G= (p.Val73=) | |
| MT | m.8743G>T | CA414797792 | MT-ATP6 | c.217G>T (p.Val73Leu) | |
| MT | m.8744T>A | CA414797798 | MT-ATP6 | c.218T>A (p.Val73Glu) | |
| MT | m.8744T>C | CA414797803 | MT-ATP6 | c.218T>C (p.Val73Ala) | ClinVar dbSNP |
| MT | m.8744T>G | CA414797800 | MT-ATP6 | c.218T>G (p.Val73Gly) | |
| MT | m.8744T= | CA2499565845 | MT-ATP6 | c.218T= (p.Val73=) | |
| MT | m.8745A= | CA2499565847 | MT-ATP6 | c.219A= (p.Val73=) | |
| MT | m.8745A>C | CA913179792 | MT-ATP6 | c.219A>C (p.Val73=) | |
| MT | m.8745A>G | CA913179789 | MT-ATP6 | c.219A>G (p.Val73=) | dbSNP |
| MT | m.8745A>T | CA913179785 | MT-ATP6 | c.219A>T (p.Val73=) | |
| MT | m.8746T>A | CA414797806 | MT-ATP6 | c.220T>A (p.Ser74Thr) | |
| MT | m.8746T>C | CA414797810 | MT-ATP6 | c.220T>C (p.Ser74Pro) | ClinVar dbSNP |
| MT | m.8746T>G | CA414797812 | MT-ATP6 | c.220T>G (p.Ser74Ala) | |
| MT | m.8746T= | CA2499565850 | MT-ATP6 | c.220T= (p.Ser74=) | |
| MT | m.8747C>A | CA414797815 | MT-ATP6 | c.221C>A (p.Ser74Tyr) | |
| MT | m.8747C= | CA2573330084 | MT-ATP6 | c.221C= (p.Ser74=) | |
| MT | m.8747C>G | CA414797818 | MT-ATP6 | c.221C>G (p.Ser74Cys) | |
| MT | m.8747C>T | CA414797821 | MT-ATP6 | c.221C>T (p.Ser74Phe) | |
| MT | m.8748C>A | CA913179814 | MT-ATP6 | c.222C>A (p.Ser74=) | |
| MT | m.8748C= | CA2499565851 | MT-ATP6 | c.222C= (p.Ser74=) | |
| MT | m.8748C>G | CA913179813 | MT-ATP6 | c.222C>G (p.Ser74=) | |
| MT | m.8748C>T | CA913179812 | MT-ATP6 | c.222C>T (p.Ser74=) | dbSNP |
| MT | m.8749T>A | CA414797823 | MT-ATP6 | c.223T>A (p.Leu75Ile) | |
| MT | m.8749T>C | CA913179827 | MT-ATP6 | c.223T>C (p.Leu75=) | dbSNP |
| MT | m.8749T>G | CA414797825 | MT-ATP6 | c.223T>G (p.Leu75Val) | |
| MT | m.8749T= | CA2499565853 | MT-ATP6 | c.223T= (p.Leu75=) | |
| MT | m.8750T>A | CA414797834 | MT-ATP6 | c.224T>A (p.Leu75Ter) | |
| MT | m.8750T>C | CA414797832 | MT-ATP6 | c.224T>C (p.Leu75Ser) | ClinVar dbSNP |
| MT | m.8750T>G | CA414797829 | MT-ATP6 | c.224T>G (p.Leu75Ter) | |
| MT | m.8750T= | CA2499565854 | MT-ATP6 | c.224T= (p.Leu75=) | |
| MT | m.8751A= | CA2499565857 | MT-ATP6 | c.225A= (p.Leu75=) | |
| MT | m.8751A>C | CA414797838 | MT-ATP6 | c.225A>C (p.Leu75Phe) | |
| MT | m.8751A>G | CA913179834 | MT-ATP6 | c.225A>G (p.Leu75=) | dbSNP |
| MT | m.8751A>T | CA414797841 | MT-ATP6 | c.225A>T (p.Leu75Phe) | |
| MT | m.8752_8753insAAA | CA913190827 | MT-ATP6 | c.226_227insAAA (p.Leu75_Ile76insLys) | ClinVar dbSNP |
| MT | m.8752A= | CA2499565860 | MT-ATP6 | c.226A= (p.Ile76=) | |
| MT | m.8752A>C | CA414797844 | MT-ATP6 | c.226A>C (p.Ile76Leu) | |
| MT | m.8752A>G | CA414797849 | MT-ATP6 | c.226A>G (p.Ile76Val) | ClinVar dbSNP |
| MT | m.8752A>T | CA414797851 | MT-ATP6 | c.226A>T (p.Ile76Phe) | |
| MT | m.8753T>A | CA414797855 | MT-ATP6 | c.227T>A (p.Ile76Asn) | |
| MT | m.8753T>C | CA414797857 | MT-ATP6 | c.227T>C (p.Ile76Thr) | dbSNP |
| MT | m.8753T>G | CA414797859 | MT-ATP6 | c.227T>G (p.Ile76Ser) | |
| MT | m.8753T= | CA2513692153 | MT-ATP6 | c.227T= (p.Ile76=) | |
| MT | m.8754C>A | CA913179850 | MT-ATP6 | c.228C>A (p.Ile76=) | |
| MT | m.8754C= | CA2499565862 | MT-ATP6 | c.228C= (p.Ile76=) | |
| MT | m.8754C>G | CA414797863 | MT-ATP6 | c.228C>G (p.Ile76Met) | |
| MT | m.8754C>T | CA913179849 | MT-ATP6 | c.228C>T (p.Ile76=) | dbSNP |
| MT | m.8755A= | CA2573330092 | MT-ATP6 | c.229A= (p.Ile77=) | |
| MT | m.8755A>C | CA414797871 | MT-ATP6 | c.229A>C (p.Ile77Leu) | |
| MT | m.8755A>G | CA414797873 | MT-ATP6 | c.229A>G (p.Ile77Val) | |
| MT | m.8755A>T | CA414797868 | MT-ATP6 | c.229A>T (p.Ile77Phe) | |
| MT | m.8756T>A | CA414797878 | MT-ATP6 | c.230T>A (p.Ile77Asn) | |
| MT | m.8756T>C | CA414797880 | MT-ATP6 | c.230T>C (p.Ile77Thr) | ClinVar dbSNP |
| MT | m.8756T>G | CA414797882 | MT-ATP6 | c.230T>G (p.Ile77Ser) | |
| MT | m.8756T= | CA2499565863 | MT-ATP6 | c.230T= (p.Ile77=) | |
| MT | m.8757T>A | CA913179857 | MT-ATP6 | c.231T>A (p.Ile77=) | |
| MT | m.8757T>C | CA913179854 | MT-ATP6 | c.231T>C (p.Ile77=) | dbSNP |
| MT | m.8757T>G | CA414797885 | MT-ATP6 | c.231T>G (p.Ile77Met) | |
| MT | m.8757T= | CA2499565865 | MT-ATP6 | c.231T= (p.Ile77=) | |
| MT | m.8758T>A | CA414797891 | MT-ATP6 | c.232T>A (p.Phe78Ile) | |
| MT | m.8758T>C | CA414797894 | MT-ATP6 | c.232T>C (p.Phe78Leu) | |
| MT | m.8758T>G | CA414797896 | MT-ATP6 | c.232T>G (p.Phe78Val) | |
| MT | m.8758T= | CA2573330096 | MT-ATP6 | c.232T= (p.Phe78=) | |
| MT | m.8759T>A | CA414797901 | MT-ATP6 | c.233T>A (p.Phe78Tyr) | |
| MT | m.8759T>C | CA414797903 | MT-ATP6 | c.233T>C (p.Phe78Ser) | |
| MT | m.8759T>G | CA414797904 | MT-ATP6 | c.233T>G (p.Phe78Cys) | |
| MT | m.8759T= | CA2573330097 | MT-ATP6 | c.233T= (p.Phe78=) | |
| MT | m.8760T>A | CA414797909 | MT-ATP6 | c.234T>A (p.Phe78Leu) | |
| MT | m.8760T>C | CA913179861 | MT-ATP6 | c.234T>C (p.Phe78=) | dbSNP |
| MT | m.8760T>G | CA414797912 | MT-ATP6 | c.234T>G (p.Phe78Leu) | |
| MT | m.8760T= | CA2499565867 | MT-ATP6 | c.234T= (p.Phe78=) | |
| MT | m.8761A= | CA2499565869 | MT-ATP6 | c.235A= (p.Ile79=) | |
| MT | m.8761A>C | CA414797915 | MT-ATP6 | c.235A>C (p.Ile79Leu) | ClinVar dbSNP |
| MT | m.8761A>G | CA414797921 | MT-ATP6 | c.235A>G (p.Ile79Val) | |
| MT | m.8761A>T | CA414797918 | MT-ATP6 | c.235A>T (p.Ile79Phe) | |
| MT | m.8762T>A | CA414797925 | MT-ATP6 | c.236T>A (p.Ile79Asn) | |
| MT | m.8762T>C | CA414797926 | MT-ATP6 | c.236T>C (p.Ile79Thr) | ClinVar dbSNP |
| MT | m.8762T>G | CA414797928 | MT-ATP6 | c.236T>G (p.Ile79Ser) | |
| MT | m.8762T= | CA2499565871 | MT-ATP6 | c.236T= (p.Ile79=) | |
| MT | m.8763T>A | CA913179866 | MT-ATP6 | c.237T>A (p.Ile79=) | |
| MT | m.8763T>C | CA913179865 | MT-ATP6 | c.237T>C (p.Ile79=) | dbSNP |
| MT | m.8763T>G | CA414797932 | MT-ATP6 | c.237T>G (p.Ile79Met) | |
| MT | m.8763T= | CA2499565873 | MT-ATP6 | c.237T= (p.Ile79=) | |
| MT | m.8764G>A | CA414797934 | MT-ATP6 | c.238G>A (p.Ala80Thr) | ClinVar dbSNP |
| MT | m.8764G>C | CA414797937 | MT-ATP6 | c.238G>C (p.Ala80Pro) | |
| MT | m.8764G= | CA2499565874 | MT-ATP6 | c.238G= (p.Ala80=) | |
| MT | m.8764G>T | CA414797939 | MT-ATP6 | c.238G>T (p.Ala80Ser) | |
| MT | m.8765C>A | CA414797943 | MT-ATP6 | c.239C>A (p.Ala80Asp) | |
| MT | m.8765C= | CA2499565875 | MT-ATP6 | c.239C= (p.Ala80=) | |
| MT | m.8765C>G | CA414797946 | MT-ATP6 | c.239C>G (p.Ala80Gly) | |
| MT | m.8765C>T | CA414797949 | MT-ATP6 | c.239C>T (p.Ala80Val) | ClinVar dbSNP |
| MT | m.8766C>A | CA913179916 | MT-ATP6 | c.240C>A (p.Ala80=) | |
| MT | m.8766C= | CA2499565876 | MT-ATP6 | c.240C= (p.Ala80=) | |
| MT | m.8766C>G | CA913179876 | MT-ATP6 | c.240C>G (p.Ala80=) | |
| MT | m.8766C>T | CA913179875 | MT-ATP6 | c.240C>T (p.Ala80=) | dbSNP |
| MT | m.8767A= | CA2499565877 | MT-ATP6 | c.241A= (p.Thr81=) | |
| MT | m.8767A>C | CA414797954 | MT-ATP6 | c.241A>C (p.Thr81Pro) | |
| MT | m.8767A>G | CA414797957 | MT-ATP6 | c.241A>G (p.Thr81Ala) | ClinVar dbSNP |
| MT | m.8767A>T | CA414797952 | MT-ATP6 | c.241A>T (p.Thr81Ser) | |
| MT | m.8768C>A | CA337098017 | MT-ATP6 | c.242C>A (p.Thr81Lys) | |
| MT | m.8768C= | CA2499565878 | MT-ATP6 | c.242C= (p.Thr81=) | |
| MT | m.8768C>G | CA337098018 | MT-ATP6 | c.242C>G (p.Thr81Arg) | |
| MT | m.8768C>T | CA414797963 | MT-ATP6 | c.242C>T (p.Thr81Ile) | ClinVar dbSNP |
| MT | m.8769A= | CA2573330102 | MT-ATP6 | c.243A= (p.Thr81=) | |
| MT | m.8769A>C | CA913179924 | MT-ATP6 | c.243A>C (p.Thr81=) | |
| MT | m.8769A>G | CA913179922 | MT-ATP6 | c.243A>G (p.Thr81=) | |
| MT | m.8769A>T | CA913179921 | MT-ATP6 | c.243A>T (p.Thr81=) | |
| MT | m.8770A= | CA2573330104 | MT-ATP6 | c.244A= (p.Thr82=) | |
| MT | m.8770A>C | CA414797975 | MT-ATP6 | c.244A>C (p.Thr82Pro) | |
| MT | m.8770A>G | CA414797977 | MT-ATP6 | c.244A>G (p.Thr82Ala) | |
| MT | m.8770A>T | CA414797980 | MT-ATP6 | c.244A>T (p.Thr82Ser) | |
| MT | m.8771C>A | CA414797984 | MT-ATP6 | c.245C>A (p.Thr82Asn) | |
| MT | m.8771C= | CA2513048728 | MT-ATP6 | c.245C= (p.Thr82=) | |
| MT | m.8771C>G | CA414797987 | MT-ATP6 | c.245C>G (p.Thr82Ser) | |
| MT | m.8771C>T | CA414797990 | MT-ATP6 | c.245C>T (p.Thr82Ile) | |
| MT | m.8772T>A | CA337098021 | MT-ATP6 | c.246T>A (p.Thr82=) | dbSNP |
| MT | m.8772T>C | CA913179934 | MT-ATP6 | c.246T>C (p.Thr82=) | dbSNP |
| MT | m.8772T>G | CA337098022 | MT-ATP6 | c.246T>G (p.Thr82=) | |
| MT | m.8772T= | CA2499565879 | MT-ATP6 | c.246T= (p.Thr82=) | |
| MT | m.8773A= | CA2573330108 | MT-ATP6 | c.247A= (p.Asn83=) | |
| MT | m.8773A>C | CA414797998 | MT-ATP6 | c.247A>C (p.Asn83His) | |
| MT | m.8773A>G | CA414798001 | MT-ATP6 | c.247A>G (p.Asn83Asp) | |
| MT | m.8773A>T | CA414798004 | MT-ATP6 | c.247A>T (p.Asn83Tyr) | |
| MT | m.8774A= | CA2499565882 | MT-ATP6 | c.248A= (p.Asn83=) | |
| MT | m.8774A>C | CA414798008 | MT-ATP6 | c.248A>C (p.Asn83Thr) | |
| MT | m.8774A>G | CA414798012 | MT-ATP6 | c.248A>G (p.Asn83Ser) | dbSNP |
| MT | m.8774A>T | CA414798009 | MT-ATP6 | c.248A>T (p.Asn83Ile) | |
| MT | m.8775C>A | CA414798016 | MT-ATP6 | c.249C>A (p.Asn83Lys) | |
| MT | m.8775C= | CA2499565885 | MT-ATP6 | c.249C= (p.Asn83=) | |
| MT | m.8775C>G | CA414798019 | MT-ATP6 | c.249C>G (p.Asn83Lys) | |
| MT | m.8775C>T | CA337098025 | MT-ATP6 | c.249C>T (p.Asn83=) | dbSNP |
| MT | m.8776C>A | CA414798022 | MT-ATP6 | c.250C>A (p.Leu84Ile) | |
| MT | m.8776C= | CA2573330114 | MT-ATP6 | c.250C= (p.Leu84=) | |
| MT | m.8776C>G | CA414798023 | MT-ATP6 | c.250C>G (p.Leu84Val) | |
| MT | m.8776C>T | CA414798024 | MT-ATP6 | c.250C>T (p.Leu84Phe) | |
| MT | m.8777T>A | CA414798026 | MT-ATP6 | c.251T>A (p.Leu84His) | |
| MT | m.8777T>C | CA414798027 | MT-ATP6 | c.251T>C (p.Leu84Pro) | |
| MT | m.8777T>G | CA414798028 | MT-ATP6 | c.251T>G (p.Leu84Arg) | |
| MT | m.8777T= | CA2573330116 | MT-ATP6 | c.251T= (p.Leu84=) | |
| MT | m.8778C>A | CA913179975 | MT-ATP6 | c.252C>A (p.Leu84=) | |
| MT | m.8778C= | CA2499565887 | MT-ATP6 | c.252C= (p.Leu84=) | |
| MT | m.8778C>G | CA913179974 | MT-ATP6 | c.252C>G (p.Leu84=) | |
| MT | m.8778C>T | CA913179973 | MT-ATP6 | c.252C>T (p.Leu84=) | dbSNP |
| MT | m.8779C>A | CA414798038 | MT-ATP6 | c.253C>A (p.Leu85Ile) | |
| MT | m.8779C= | CA2573330119 | MT-ATP6 | c.253C= (p.Leu85=) | |
| MT | m.8779C>G | CA414798036 | MT-ATP6 | c.253C>G (p.Leu85Val) | |
| MT | m.8779C>T | CA414798032 | MT-ATP6 | c.253C>T (p.Leu85Phe) | |
| MT | m.8780T>A | CA414798041 | MT-ATP6 | c.254T>A (p.Leu85His) | |
| MT | m.8780T>C | CA414798042 | MT-ATP6 | c.254T>C (p.Leu85Pro) | |
| MT | m.8780T>G | CA414798044 | MT-ATP6 | c.254T>G (p.Leu85Arg) | |
| MT | m.8780T= | CA2573330120 | MT-ATP6 | c.254T= (p.Leu85=) | |
| MT | m.8781C>A | CA16603193 | MT-ATP6 | c.255C>A (p.Leu85=) | ClinVar dbSNP |
| MT | m.8781C= | CA2499565889 | MT-ATP6 | c.255C= (p.Leu85=) | |
| MT | m.8781C>G | CA913179995 | MT-ATP6 | c.255C>G (p.Leu85=) | |
| MT | m.8781C>T | CA913179994 | MT-ATP6 | c.255C>T (p.Leu85=) | dbSNP |
| MT | m.8782G>A | CA414798049 | MT-ATP6 | c.256G>A (p.Gly86Arg) | ClinVar dbSNP |
| MT | m.8782G>C | CA414798051 | MT-ATP6 | c.256G>C (p.Gly86Arg) | |
| MT | m.8782G= | CA2499565891 | MT-ATP6 | c.256G= (p.Gly86=) | |
| MT | m.8782G>T | CA414798056 | MT-ATP6 | c.256G>T (p.Gly86Ter) | |
| MT | m.8783G>A | CA414798058 | MT-ATP6 | c.257G>A (p.Gly86Glu) | ClinVar dbSNP |
| MT | m.8783G>C | CA414798061 | MT-ATP6 | c.257G>C (p.Gly86Ala) | |
| MT | m.8783G= | CA2499565893 | MT-ATP6 | c.257G= (p.Gly86=) | |
| MT | m.8783G>T | CA414798064 | MT-ATP6 | c.257G>T (p.Gly86Val) | |
| MT | m.8784A= | CA2499565894 | MT-ATP6 | c.258A= (p.Gly86=) | |
| MT | m.8784A>C | CA913180008 | MT-ATP6 | c.258A>C (p.Gly86=) | |
| MT | m.8784A>G | CA337098028 | MT-ATP6 | c.258A>G (p.Gly86=) | dbSNP |
| MT | m.8784A>T | CA913180006 | MT-ATP6 | c.258A>T (p.Gly86=) | dbSNP |
| MT | m.8785C>A | CA414798073 | MT-ATP6 | c.259C>A (p.Leu87Ile) | |
| MT | m.8785C= | CA2499565895 | MT-ATP6 | c.259C= (p.Leu87=) | |
| MT | m.8785C>G | CA414798071 | MT-ATP6 | c.259C>G (p.Leu87Val) | ClinVar dbSNP |
| MT | m.8785C>T | CA414798068 | MT-ATP6 | c.259C>T (p.Leu87Phe) | ClinVar dbSNP |
| MT | m.8786T>A | CA414798077 | MT-ATP6 | c.260T>A (p.Leu87His) | |
| MT | m.8786T>C | CA414798080 | MT-ATP6 | c.260T>C (p.Leu87Pro) | dbSNP |
| MT | m.8786T>G | CA414798082 | MT-ATP6 | c.260T>G (p.Leu87Arg) | |
| MT | m.8786T= | CA2499565896 | MT-ATP6 | c.260T= (p.Leu87=) | |
| MT | m.8787C>A | CA913180033 | MT-ATP6 | c.261C>A (p.Leu87=) | |
| MT | m.8787C= | CA2573330132 | MT-ATP6 | c.261C= (p.Leu87=) | |
| MT | m.8787C>G | CA913180025 | MT-ATP6 | c.261C>G (p.Leu87=) | |
| MT | m.8787C>T | CA913180022 | MT-ATP6 | c.261C>T (p.Leu87=) | |
| MT | m.8788C>A | CA414798085 | MT-ATP6 | c.262C>A (p.Leu88Met) | |
| MT | m.8788C= | CA2499565897 | MT-ATP6 | c.262C= (p.Leu88=) | |
| MT | m.8788C>G | CA414798087 | MT-ATP6 | c.262C>G (p.Leu88Val) | |
| MT | m.8788C>T | CA913180036 | MT-ATP6 | c.262C>T (p.Leu88=) | dbSNP |
| MT | m.8789T>A | CA414798089 | MT-ATP6 | c.263T>A (p.Leu88Gln) | |
| MT | m.8789T>C | CA414798091 | MT-ATP6 | c.263T>C (p.Leu88Pro) | ClinVar dbSNP |
| MT | m.8789T>G | CA414798094 | MT-ATP6 | c.263T>G (p.Leu88Arg) | |
| MT | m.8789T= | CA2499565898 | MT-ATP6 | c.263T= (p.Leu88=) | |
| MT | m.8790G>A | CA10581352 | MT-ATP6 | c.264G>A (p.Leu88=) | ClinVar dbSNP |
| MT | m.8790G>C | CA913180055 | MT-ATP6 | c.264G>C (p.Leu88=) | |
| MT | m.8790G= | CA2499565899 | MT-ATP6 | c.264G= (p.Leu88=) | |
| MT | m.8790G>T | CA913180052 | MT-ATP6 | c.264G>T (p.Leu88=) | |
| MT | m.8791C>A | CA414798100 | MT-ATP6 | c.265C>A (p.Pro89Thr) | |
| MT | m.8791C= | CA2573330138 | MT-ATP6 | c.265C= (p.Pro89=) | |
| MT | m.8791C>G | CA414798102 | MT-ATP6 | c.265C>G (p.Pro89Ala) | |
| MT | m.8791C>T | CA414798105 | MT-ATP6 | c.265C>T (p.Pro89Ser) | |
| MT | m.8792C>A | CA414798109 | MT-ATP6 | c.266C>A (p.Pro89His) | |
| MT | m.8792C= | CA2513095230 | MT-ATP6 | c.266C= (p.Pro89=) | |
| MT | m.8792C>G | CA414798110 | MT-ATP6 | c.266C>G (p.Pro89Arg) | |
| MT | m.8792C>T | CA414798107 | MT-ATP6 | c.266C>T (p.Pro89Leu) | |
| MT | m.8793T>A | CA913180075 | MT-ATP6 | c.267T>A (p.Pro89=) | |
| MT | m.8793T>C | CA913180073 | MT-ATP6 | c.267T>C (p.Pro89=) | dbSNP |
| MT | m.8793T>G | CA913180071 | MT-ATP6 | c.267T>G (p.Pro89=) | |
| MT | m.8793T= | CA2499565900 | MT-ATP6 | c.267T= (p.Pro89=) | |
| MT | m.8794C>A | CA414798116 | MT-ATP6 | c.268C>A (p.His90Asn) | |
| MT | m.8794C= | CA2499565901 | MT-ATP6 | c.268C= (p.His90=) | |
| MT | m.8794C>G | CA414798113 | MT-ATP6 | c.268C>G (p.His90Asp) | |
| MT | m.8794C>T | CA337098034 | MT-ATP6 | c.268C>T (p.His90Tyr) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.8795A= | CA2573330145 | MT-ATP6 | c.269A= (p.His90=) | |
| MT | m.8795A>C | CA414798121 | MT-ATP6 | c.269A>C (p.His90Pro) | |
| MT | m.8795A>G | CA414798123 | MT-ATP6 | c.269A>G (p.His90Arg) | |
| MT | m.8795A>T | CA414798127 | MT-ATP6 | c.269A>T (p.His90Leu) | |
| MT | m.8796C>A | CA414798130 | MT-ATP6 | c.270C>A (p.His90Gln) | |
| MT | m.8796C= | CA2499565902 | MT-ATP6 | c.270C= (p.His90=) | |
| MT | m.8796C>G | CA414798132 | MT-ATP6 | c.270C>G (p.His90Gln) | |
| MT | m.8796C>T | CA913180096 | MT-ATP6 | c.270C>T (p.His90=) | dbSNP |
| MT | m.8797T>A | CA414798140 | MT-ATP6 | c.271T>A (p.Ser91Thr) | |
| MT | m.8797T>C | CA414798138 | MT-ATP6 | c.271T>C (p.Ser91Pro) | |
| MT | m.8797T>G | CA414798137 | MT-ATP6 | c.271T>G (p.Ser91Ala) | |
| MT | m.8797T= | CA2573330150 | MT-ATP6 | c.271T= (p.Ser91=) | |
| MT | m.8798C>A | CA414798145 | MT-ATP6 | c.272C>A (p.Ser91Ter) | |
| MT | m.8798C= | CA2573330151 | MT-ATP6 | c.272C= (p.Ser91=) | |
| MT | m.8798C>G | CA414798147 | MT-ATP6 | c.272C>G (p.Ser91Ter) | |
| MT | m.8798C>T | CA414798149 | MT-ATP6 | c.272C>T (p.Ser91Leu) | |
| MT | m.8799A= | CA2499565903 | MT-ATP6 | c.273A= (p.Ser91=) | |
| MT | m.8799A>C | CA913180145 | MT-ATP6 | c.273A>C (p.Ser91=) | |
| MT | m.8799A>G | CA913180143 | MT-ATP6 | c.273A>G (p.Ser91=) | dbSNP |
| MT | m.8799A>T | CA913180135 | MT-ATP6 | c.273A>T (p.Ser91=) | |
| MT | m.8800T>A | CA414798154 | MT-ATP6 | c.274T>A (p.Phe92Ile) | |
| MT | m.8800T>C | CA414798157 | MT-ATP6 | c.274T>C (p.Phe92Leu) | ClinVar dbSNP |
| MT | m.8800T>G | CA414798160 | MT-ATP6 | c.274T>G (p.Phe92Val) | ClinVar dbSNP |
| MT | m.8800T= | CA2499565904 | MT-ATP6 | c.274T= (p.Phe92=) | |
| MT | m.8801T>A | CA414798163 | MT-ATP6 | c.275T>A (p.Phe92Tyr) | |
| MT | m.8801T>C | CA414798168 | MT-ATP6 | c.275T>C (p.Phe92Ser) | |
| MT | m.8801T>G | CA414798165 | MT-ATP6 | c.275T>G (p.Phe92Cys) | |
| MT | m.8801T= | CA2573330156 | MT-ATP6 | c.275T= (p.Phe92=) | |
| MT | m.8802T>A | CA414798171 | MT-ATP6 | c.276T>A (p.Phe92Leu) | |
| MT | m.8802T>C | CA645611398 | MT-ATP6 | c.276T>C (p.Phe92=) | dbSNP COSMIC COSMIC |
| MT | m.8802T>G | CA414798174 | MT-ATP6 | c.276T>G (p.Phe92Leu) | |
| MT | m.8802T= | CA2499565905 | MT-ATP6 | c.276T= (p.Phe92=) |