| 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.12806G>A | CA414814946 | MT-ND5 | c.470G>A (p.Ter157=) | |
| MT | m.12806G>C | CA414814947 | MT-ND5 | c.470G>C (p.Ter157Ser) | |
| MT | m.12806G= | CA414814949 | MT-ND5 | c.470G= (p.Ter157=) | |
| MT | m.12806G>T | CA414814951 | MT-ND5 | c.470G>T (p.Ter157Leu) | |
| MT | m.12807A= | CA414814953 | MT-ND5 | c.471A= (p.Ter157=) | |
| MT | m.12807A>C | CA414814955 | MT-ND5 | c.471A>C (p.Ter157Cys) | |
| MT | m.12807A>G | CA414814957 | MT-ND5 | c.471A>G (p.Ter157Trp) | |
| MT | m.12807A>T | CA414814959 | MT-ND5 | c.471A>T (p.Ter157Cys) | |
| MT | m.12808T>A | CA414814965 | MT-ND5 | c.472T>A (p.Ter158Arg) | |
| MT | m.12808T>C | CA414814963 | MT-ND5 | c.472T>C (p.Ter158Arg) | |
| MT | m.12808T>G | CA414814966 | MT-ND5 | c.472T>G (p.Ter158Gly) | |
| MT | m.12808T= | CA414814961 | MT-ND5 | c.472T= (p.Ter158=) | |
| MT | m.12809G>A | CA414814969 | MT-ND5 | c.473G>A (p.Ter158=) | |
| MT | m.12809G>C | CA414814971 | MT-ND5 | c.473G>C (p.Ter158Ser) | |
| MT | m.12809G= | CA414814972 | MT-ND5 | c.473G= (p.Ter158=) | |
| MT | m.12809G>T | CA414814975 | MT-ND5 | c.473G>T (p.Ter158Leu) | |
| MT | m.12810A= | CA414814977 | MT-ND5 | c.474A= (p.Ter158=) | |
| MT | m.12810A>C | CA414814979 | MT-ND5 | c.474A>C (p.Ter158Cys) | |
| MT | m.12810A>G | CA10581334 | MT-ND5 | c.474A>G (p.Ter158Trp) | ClinVar dbSNP |
| MT | m.12810A>T | CA414814982 | MT-ND5 | c.474A>T (p.Ter158Cys) | |
| MT | m.12811T>A | CA414814984 | MT-ND5 | c.475T>A (p.Tyr159Asn) | |
| MT | m.12811T>C | CA344821 | MT-ND5 | c.475T>C (p.Tyr159His) | ClinVar dbSNP |
| MT | m.12811T>G | CA414814987 | MT-ND5 | c.475T>G (p.Tyr159Asp) | |
| MT | m.12811T= | CA2499567738 | MT-ND5 | c.475T= (p.Tyr159=) | |
| MT | m.12812A= | CA2499567739 | MT-ND5 | c.476A= (p.Tyr159=) | |
| MT | m.12812A>C | CA414814990 | MT-ND5 | c.476A>C (p.Tyr159Ser) | |
| MT | m.12812A>G | CA414814993 | MT-ND5 | c.476A>G (p.Tyr159Cys) | dbSNP |
| MT | m.12812A>T | CA414814992 | MT-ND5 | c.476A>T (p.Tyr159Phe) | |
| MT | m.12813C>A | CA414814995 | MT-ND5 | c.477C>A (p.Tyr159Ter) | |
| MT | m.12813C= | CA2499567740 | MT-ND5 | c.477C= (p.Tyr159=) | |
| MT | m.12813C>G | CA414814997 | MT-ND5 | c.477C>G (p.Tyr159Ter) | |
| MT | m.12813C>T | CA913170535 | MT-ND5 | c.477C>T (p.Tyr159=) | dbSNP |
| MT | m.12814G>A | CA414814999 | MT-ND5 | c.478G>A (p.Ala160Thr) | ClinVar dbSNP |
| MT | m.12814G>C | CA414815001 | MT-ND5 | c.478G>C (p.Ala160Pro) | |
| MT | m.12814G= | CA2499567741 | MT-ND5 | c.478G= (p.Ala160=) | |
| MT | m.12814G>T | CA414815003 | MT-ND5 | c.478G>T (p.Ala160Ser) | |
| MT | m.12815C>A | CA414815007 | MT-ND5 | c.479C>A (p.Ala160Asp) | |
| MT | m.12815C= | CA2573321662 | MT-ND5 | c.479C= (p.Ala160=) | |
| MT | m.12815C>G | CA414815008 | MT-ND5 | c.479C>G (p.Ala160Gly) | |
| MT | m.12815C>T | CA414815010 | MT-ND5 | c.479C>T (p.Ala160Val) | |
| MT | m.12816C>A | CA913170536 | MT-ND5 | c.480C>A (p.Ala160=) | |
| MT | m.12816C= | CA2499567742 | MT-ND5 | c.480C= (p.Ala160=) | |
| MT | m.12816C>G | CA913170537 | MT-ND5 | c.480C>G (p.Ala160=) | |
| MT | m.12816C>T | CA913170538 | MT-ND5 | c.480C>T (p.Ala160=) | dbSNP |
| MT | m.12817C>A | CA913170539 | MT-ND5 | c.481C>A (p.Arg161=) | |
| MT | m.12817C= | CA2573321675 | MT-ND5 | c.481C= (p.Arg161=) | |
| MT | m.12817C>G | CA414815012 | MT-ND5 | c.481C>G (p.Arg161Gly) | |
| MT | m.12817C>T | CA414815014 | MT-ND5 | c.481C>T (p.Arg161Ter) | |
| MT | m.12818G>A | CA414815018 | MT-ND5 | c.482G>A (p.Arg161Gln) | |
| MT | m.12818G>C | CA414815020 | MT-ND5 | c.482G>C (p.Arg161Pro) | |
| MT | m.12818G= | CA2573321680 | MT-ND5 | c.482G= (p.Arg161=) | |
| MT | m.12818G>T | CA414815017 | MT-ND5 | c.482G>T (p.Arg161Leu) | |
| MT | m.12819A= | CA2499567743 | MT-ND5 | c.483A= (p.Arg161=) | |
| MT | m.12819A>C | CA913170540 | MT-ND5 | c.483A>C (p.Arg161=) | |
| MT | m.12819A>G | CA913170541 | MT-ND5 | c.483A>G (p.Arg161=) | dbSNP |
| MT | m.12819A>T | CA913170542 | MT-ND5 | c.483A>T (p.Arg161=) | |
| MT | m.12820G>A | CA337099547 | MT-ND5 | c.484G>A (p.Ala162Thr) | ClinVar dbSNP |
| MT | m.12820G>C | CA414815023 | MT-ND5 | c.484G>C (p.Ala162Pro) | |
| MT | m.12820G= | CA2499567744 | MT-ND5 | c.484G= (p.Ala162=) | |
| MT | m.12820G>T | CA414815024 | MT-ND5 | c.484G>T (p.Ala162Ser) | |
| MT | m.12821C>A | CA414815028 | MT-ND5 | c.485C>A (p.Ala162Glu) | |
| MT | m.12821C= | CA2573321690 | MT-ND5 | c.485C= (p.Ala162=) | |
| MT | m.12821C>G | CA414815029 | MT-ND5 | c.485C>G (p.Ala162Gly) | |
| MT | m.12821C>T | CA414815031 | MT-ND5 | c.485C>T (p.Ala162Val) | |
| MT | m.12822A= | CA2499567745 | MT-ND5 | c.486A= (p.Ala162=) | |
| MT | m.12822A>C | CA913170543 | MT-ND5 | c.486A>C (p.Ala162=) | |
| MT | m.12822A>G | CA337099549 | MT-ND5 | c.486A>G (p.Ala162=) | dbSNP COSMIC |
| MT | m.12822A>T | CA913170544 | MT-ND5 | c.486A>T (p.Ala162=) | |
| MT | m.12823G>A | CA414815034 | MT-ND5 | c.487G>A (p.Asp163Asn) | |
| MT | m.12823G>C | CA414815037 | MT-ND5 | c.487G>C (p.Asp163His) | |
| MT | m.12823G= | CA2573321700 | MT-ND5 | c.487G= (p.Asp163=) | |
| MT | m.12823G>T | CA414815038 | MT-ND5 | c.487G>T (p.Asp163Tyr) | |
| MT | m.12824A= | CA2573321706 | MT-ND5 | c.488A= (p.Asp163=) | |
| MT | m.12824A>C | CA414815041 | MT-ND5 | c.488A>C (p.Asp163Ala) | |
| MT | m.12824A>G | CA414815043 | MT-ND5 | c.488A>G (p.Asp163Gly) | |
| MT | m.12824A>T | CA414815044 | MT-ND5 | c.488A>T (p.Asp163Val) | |
| MT | m.12825T>A | CA414815049 | MT-ND5 | c.489T>A (p.Asp163Glu) | |
| MT | m.12825T>C | CA913170545 | MT-ND5 | c.489T>C (p.Asp163=) | dbSNP |
| MT | m.12825T>G | CA414815047 | MT-ND5 | c.489T>G (p.Asp163Glu) | |
| MT | m.12825T= | CA2499567746 | MT-ND5 | c.489T= (p.Asp163=) | |
| MT | m.12826G>A | CA414815051 | MT-ND5 | c.490G>A (p.Ala164Thr) | |
| MT | m.12826G>C | CA414815053 | MT-ND5 | c.490G>C (p.Ala164Pro) | |
| MT | m.12826G= | CA2573321718 | MT-ND5 | c.490G= (p.Ala164=) | |
| MT | m.12826G>T | CA414815054 | MT-ND5 | c.490G>T (p.Ala164Ser) | |
| MT | m.12827C>A | CA414815058 | MT-ND5 | c.491C>A (p.Ala164Asp) | |
| MT | m.12827C= | CA2573321721 | MT-ND5 | c.491C= (p.Ala164=) | |
| MT | m.12827C>G | CA414815059 | MT-ND5 | c.491C>G (p.Ala164Gly) | |
| MT | m.12827C>T | CA414815061 | MT-ND5 | c.491C>T (p.Ala164Val) | |
| MT | m.12828C>A | CA913170546 | MT-ND5 | c.492C>A (p.Ala164=) | |
| MT | m.12828C= | CA2499567747 | MT-ND5 | c.492C= (p.Ala164=) | |
| MT | m.12828C>G | CA913170547 | MT-ND5 | c.492C>G (p.Ala164=) | |
| MT | m.12828C>T | CA913170548 | MT-ND5 | c.492C>T (p.Ala164=) | dbSNP |
| MT | m.12829A= | CA2573321726 | MT-ND5 | c.493A= (p.Asn165=) | |
| MT | m.12829A>C | CA414815063 | MT-ND5 | c.493A>C (p.Asn165His) | |
| MT | m.12829A>G | CA414815065 | MT-ND5 | c.493A>G (p.Asn165Asp) | |
| MT | m.12829A>T | CA414815067 | MT-ND5 | c.493A>T (p.Asn165Tyr) | |
| MT | m.12830A= | CA2573321728 | MT-ND5 | c.494A= (p.Asn165=) | |
| MT | m.12830A>C | CA414815070 | MT-ND5 | c.494A>C (p.Asn165Thr) | |
| MT | m.12830A>G | CA414815071 | MT-ND5 | c.494A>G (p.Asn165Ser) | |
| MT | m.12830A>T | CA414815073 | MT-ND5 | c.494A>T (p.Asn165Ile) | |
| MT | m.12831C>A | CA414815077 | MT-ND5 | c.495C>A (p.Asn165Lys) | |
| MT | m.12831C= | CA2573321731 | MT-ND5 | c.495C= (p.Asn165=) | |
| MT | m.12831C>G | CA414815076 | MT-ND5 | c.495C>G (p.Asn165Lys) | |
| MT | m.12831C>T | CA913170549 | MT-ND5 | c.495C>T (p.Asn165=) | |
| MT | m.12832A= | CA2573321735 | MT-ND5 | c.496A= (p.Thr166=) | |
| MT | m.12832A>C | CA414815080 | MT-ND5 | c.496A>C (p.Thr166Pro) | |
| MT | m.12832A>G | CA414815081 | MT-ND5 | c.496A>G (p.Thr166Ala) | |
| MT | m.12832A>T | CA414815083 | MT-ND5 | c.496A>T (p.Thr166Ser) | |
| MT | m.12833C>A | CA414815086 | MT-ND5 | c.497C>A (p.Thr166Lys) | |
| MT | m.12833C= | CA2573321737 | MT-ND5 | c.497C= (p.Thr166=) | |
| MT | m.12833C>G | CA414815087 | MT-ND5 | c.497C>G (p.Thr166Arg) | |
| MT | m.12833C>T | CA414815089 | MT-ND5 | c.497C>T (p.Thr166Ile) | |
| MT | m.12834A= | CA2499567748 | MT-ND5 | c.498A= (p.Thr166=) | |
| MT | m.12834A>C | CA913170550 | MT-ND5 | c.498A>C (p.Thr166=) | |
| MT | m.12834A>G | CA913170551 | MT-ND5 | c.498A>G (p.Thr166=) | dbSNP |
| MT | m.12834A>T | CA913170552 | MT-ND5 | c.498A>T (p.Thr166=) | |
| MT | m.12835G>A | CA414815092 | MT-ND5 | c.499G>A (p.Ala167Thr) | ClinVar dbSNP |
| MT | m.12835G>C | CA414815093 | MT-ND5 | c.499G>C (p.Ala167Pro) | |
| MT | m.12835G= | CA2499567749 | MT-ND5 | c.499G= (p.Ala167=) | |
| MT | m.12835G>T | CA414815095 | MT-ND5 | c.499G>T (p.Ala167Ser) | |
| MT | m.12836C>A | CA414815098 | MT-ND5 | c.500C>A (p.Ala167Glu) | |
| MT | m.12836C= | CA2499567750 | MT-ND5 | c.500C= (p.Ala167=) | |
| MT | m.12836C>G | CA414815099 | MT-ND5 | c.500C>G (p.Ala167Gly) | |
| MT | m.12836C>T | CA414815101 | MT-ND5 | c.500C>T (p.Ala167Val) | ClinVar dbSNP |
| MT | m.12837A= | CA2573321754 | MT-ND5 | c.501A= (p.Ala167=) | |
| MT | m.12837A>C | CA913170555 | MT-ND5 | c.501A>C (p.Ala167=) | |
| MT | m.12837A>G | CA913170553 | MT-ND5 | c.501A>G (p.Ala167=) | |
| MT | m.12837A>T | CA913170554 | MT-ND5 | c.501A>T (p.Ala167=) | |
| MT | m.12838G>A | CA414815105 | MT-ND5 | c.502G>A (p.Ala168Thr) | |
| MT | m.12838G>C | CA414815107 | MT-ND5 | c.502G>C (p.Ala168Pro) | |
| MT | m.12838G= | CA2573321756 | MT-ND5 | c.502G= (p.Ala168=) | |
| MT | m.12838G>T | CA414815104 | MT-ND5 | c.502G>T (p.Ala168Ser) | |
| MT | m.12839C>A | CA414815110 | MT-ND5 | c.503C>A (p.Ala168Asp) | |
| MT | m.12839C= | CA2573321764 | MT-ND5 | c.503C= (p.Ala168=) | |
| MT | m.12839C>G | CA414815111 | MT-ND5 | c.503C>G (p.Ala168Gly) | |
| MT | m.12839C>T | CA414815113 | MT-ND5 | c.503C>T (p.Ala168Val) | |
| MT | m.12840C>A | CA913170558 | MT-ND5 | c.504C>A (p.Ala168=) | |
| MT | m.12840C= | CA2499567751 | MT-ND5 | c.504C= (p.Ala168=) | |
| MT | m.12840C>G | CA913170557 | MT-ND5 | c.504C>G (p.Ala168=) | |
| MT | m.12840C>T | CA913170556 | MT-ND5 | c.504C>T (p.Ala168=) | dbSNP |
| MT | m.12841A= | CA2573321767 | MT-ND5 | c.505A= (p.Ile169=) | |
| MT | m.12841A>C | CA414815116 | MT-ND5 | c.505A>C (p.Ile169Leu) | |
| MT | m.12841A>G | CA414815117 | MT-ND5 | c.505A>G (p.Ile169Val) | |
| MT | m.12841A>T | CA414815118 | MT-ND5 | c.505A>T (p.Ile169Phe) | |
| MT | m.12842T>A | CA414815122 | MT-ND5 | c.506T>A (p.Ile169Asn) | |
| MT | m.12842T>C | CA414815125 | MT-ND5 | c.506T>C (p.Ile169Thr) | ClinVar dbSNP |
| MT | m.12842T>G | CA414815123 | MT-ND5 | c.506T>G (p.Ile169Ser) | |
| MT | m.12842T= | CA2499567752 | MT-ND5 | c.506T= (p.Ile169=) | |
| MT | m.12843T>A | CA913170559 | MT-ND5 | c.507T>A (p.Ile169=) | |
| MT | m.12843T>C | CA913170560 | MT-ND5 | c.507T>C (p.Ile169=) | dbSNP |
| MT | m.12843T>G | CA414815128 | MT-ND5 | c.507T>G (p.Ile169Met) | |
| MT | m.12843T= | CA2499567753 | MT-ND5 | c.507T= (p.Ile169=) | |
| MT | m.12844C>A | CA414815129 | MT-ND5 | c.508C>A (p.Gln170Lys) | |
| MT | m.12844C= | CA2499567754 | MT-ND5 | c.508C= (p.Gln170=) | |
| MT | m.12844C>G | CA337099551 | MT-ND5 | c.508C>G (p.Gln170Glu) | dbSNP |
| MT | m.12844C>T | CA414815133 | MT-ND5 | c.508C>T (p.Gln170Ter) | |
| MT | m.12845A= | CA2573321786 | MT-ND5 | c.509A= (p.Gln170=) | |
| MT | m.12845A>C | CA414815139 | MT-ND5 | c.509A>C (p.Gln170Pro) | |
| MT | m.12845A>G | CA414815137 | MT-ND5 | c.509A>G (p.Gln170Arg) | |
| MT | m.12845A>T | CA414815135 | MT-ND5 | c.509A>T (p.Gln170Leu) | |
| MT | m.12846A= | CA2499567755 | MT-ND5 | c.510A= (p.Gln170=) | |
| MT | m.12846A>C | CA414815141 | MT-ND5 | c.510A>C (p.Gln170His) | |
| MT | m.12846A>G | CA913170561 | MT-ND5 | c.510A>G (p.Gln170=) | dbSNP |
| MT | m.12846A>T | CA414815143 | MT-ND5 | c.510A>T (p.Gln170His) | |
| MT | m.12847G>A | CA414815145 | MT-ND5 | c.511G>A (p.Ala171Thr) | dbSNP |
| MT | m.12847G>C | CA414815149 | MT-ND5 | c.511G>C (p.Ala171Pro) | |
| MT | m.12847G= | CA2499567756 | MT-ND5 | c.511G= (p.Ala171=) | |
| MT | m.12847G>T | CA414815147 | MT-ND5 | c.511G>T (p.Ala171Ser) | |
| MT | m.12848C>A | CA414815151 | MT-ND5 | c.512C>A (p.Ala171Glu) | |
| MT | m.12848C= | CA2499567757 | MT-ND5 | c.512C= (p.Ala171=) | |
| MT | m.12848C>G | CA414815153 | MT-ND5 | c.512C>G (p.Ala171Gly) | |
| MT | m.12848C>T | CA340937 | MT-ND5 | c.512C>T (p.Ala171Val) | ClinVar dbSNP |
| MT | m.12849A= | CA2499567758 | MT-ND5 | c.513A= (p.Ala171=) | |
| MT | m.12849A>C | CA913170562 | MT-ND5 | c.513A>C (p.Ala171=) | |
| MT | m.12849A>G | CA913170563 | MT-ND5 | c.513A>G (p.Ala171=) | |
| MT | m.12849A>T | CA913170564 | MT-ND5 | c.513A>T (p.Ala171=) | dbSNP |
| MT | m.12850A= | CA2499567759 | MT-ND5 | c.514A= (p.Ile172=) | |
| MT | m.12850A>C | CA414815156 | MT-ND5 | c.514A>C (p.Ile172Leu) | |
| MT | m.12850A>G | CA337099554 | MT-ND5 | c.514A>G (p.Ile172Val) | ClinVar dbSNP |
| MT | m.12850A>T | CA414815157 | MT-ND5 | c.514A>T (p.Ile172Phe) | |
| MT | m.12851T>A | CA414815161 | MT-ND5 | c.515T>A (p.Ile172Asn) | |
| MT | m.12851T>C | CA414815162 | MT-ND5 | c.515T>C (p.Ile172Thr) | ClinVar dbSNP |
| MT | m.12851T>G | CA414815164 | MT-ND5 | c.515T>G (p.Ile172Ser) | |
| MT | m.12851T= | CA2499567760 | MT-ND5 | c.515T= (p.Ile172=) | |
| MT | m.12852C>A | CA913170565 | MT-ND5 | c.516C>A (p.Ile172=) | |
| MT | m.12852C= | CA2573321822 | MT-ND5 | c.516C= (p.Ile172=) | |
| MT | m.12852C>G | CA414815167 | MT-ND5 | c.516C>G (p.Ile172Met) | |
| MT | m.12852C>T | CA913170566 | MT-ND5 | c.516C>T (p.Ile172=) | dbSNP |
| MT | m.12853C>A | CA414815168 | MT-ND5 | c.517C>A (p.Leu173Ile) | |
| MT | m.12853C= | CA2499567761 | MT-ND5 | c.517C= (p.Leu173=) | |
| MT | m.12853C>G | CA414815171 | MT-ND5 | c.517C>G (p.Leu173Val) | |
| MT | m.12853C>T | CA337099556 | MT-ND5 | c.517C>T (p.Leu173=) | dbSNP |
| MT | m.12854T>A | CA414815175 | MT-ND5 | c.518T>A (p.Leu173Gln) | |
| MT | m.12854T>C | CA414815176 | MT-ND5 | c.518T>C (p.Leu173Pro) | COSMIC |
| MT | m.12854T>G | CA414815178 | MT-ND5 | c.518T>G (p.Leu173Arg) | |
| MT | m.12854T= | CA2573321832 | MT-ND5 | c.518T= (p.Leu173=) | |
| MT | m.12855A= | CA2499567762 | MT-ND5 | c.519A= (p.Leu173=) | |
| MT | m.12855A>C | CA913170567 | MT-ND5 | c.519A>C (p.Leu173=) | dbSNP |
| MT | m.12855A>G | CA913170568 | MT-ND5 | c.519A>G (p.Leu173=) | dbSNP |
| MT | m.12855A>T | CA913170569 | MT-ND5 | c.519A>T (p.Leu173=) | |
| MT | m.12856T>A | CA414815184 | MT-ND5 | c.520T>A (p.Tyr174Asn) | |
| MT | m.12856T>C | CA414815181 | MT-ND5 | c.520T>C (p.Tyr174His) | |
| MT | m.12856T>G | CA414815182 | MT-ND5 | c.520T>G (p.Tyr174Asp) | |
| MT | m.12856T= | CA2573321843 | MT-ND5 | c.520T= (p.Tyr174=) | |
| MT | m.12857A= | CA2573321846 | MT-ND5 | c.521A= (p.Tyr174=) | |
| MT | m.12857A>C | CA414815186 | MT-ND5 | c.521A>C (p.Tyr174Ser) | |
| MT | m.12857A>G | CA414815188 | MT-ND5 | c.521A>G (p.Tyr174Cys) | |
| MT | m.12857A>T | CA414815190 | MT-ND5 | c.521A>T (p.Tyr174Phe) | |
| MT | m.12858C>A | CA414815192 | MT-ND5 | c.522C>A (p.Tyr174Ter) | ClinVar dbSNP |
| MT | m.12858C= | CA2499567763 | MT-ND5 | c.522C= (p.Tyr174=) | |
| MT | m.12858C>G | CA414815194 | MT-ND5 | c.522C>G (p.Tyr174Ter) | |
| MT | m.12858C>T | CA337099558 | MT-ND5 | c.522C>T (p.Tyr174=) | dbSNP |
| MT | m.12859A= | CA2573321854 | MT-ND5 | c.523A= (p.Asn175=) | |
| MT | m.12859A>C | CA414815197 | MT-ND5 | c.523A>C (p.Asn175His) | |
| MT | m.12859A>G | CA414815199 | MT-ND5 | c.523A>G (p.Asn175Asp) | |
| MT | m.12859A>T | CA414815201 | MT-ND5 | c.523A>T (p.Asn175Tyr) | |
| MT | m.12860A= | CA2573321887 | MT-ND5 | c.524A= (p.Asn175=) | |
| MT | m.12860A>C | CA414815208 | MT-ND5 | c.524A>C (p.Asn175Thr) | |
| MT | m.12860A>G | CA414815206 | MT-ND5 | c.524A>G (p.Asn175Ser) | |
| MT | m.12860A>T | CA414815204 | MT-ND5 | c.524A>T (p.Asn175Ile) | |
| MT | m.12861C>A | CA414815210 | MT-ND5 | c.525C>A (p.Asn175Lys) | |
| MT | m.12861C= | CA2573321888 | MT-ND5 | c.525C= (p.Asn175=) | |
| MT | m.12861C>G | CA414815211 | MT-ND5 | c.525C>G (p.Asn175Lys) | |
| MT | m.12861C>T | CA913170570 | MT-ND5 | c.525C>T (p.Asn175=) | |
| MT | m.12862C>A | CA414815214 | MT-ND5 | c.526C>A (p.Arg176Ser) | |
| MT | m.12862C= | CA2573321891 | MT-ND5 | c.526C= (p.Arg176=) | |
| MT | m.12862C>G | CA414815215 | MT-ND5 | c.526C>G (p.Arg176Gly) | |
| MT | m.12862C>T | CA414815217 | MT-ND5 | c.526C>T (p.Arg176Cys) | |
| MT | m.12863G>A | CA414815220 | MT-ND5 | c.527G>A (p.Arg176His) | |
| MT | m.12863G>C | CA414815221 | MT-ND5 | c.527G>C (p.Arg176Pro) | |
| MT | m.12863G= | CA2573321895 | MT-ND5 | c.527G= (p.Arg176=) | |
| MT | m.12863G>T | CA414815223 | MT-ND5 | c.527G>T (p.Arg176Leu) | |
| MT | m.12864T>A | CA913170573 | MT-ND5 | c.528T>A (p.Arg176=) | |
| MT | m.12864T>C | CA913170571 | MT-ND5 | c.528T>C (p.Arg176=) | dbSNP |
| MT | m.12864T>G | CA913170572 | MT-ND5 | c.528T>G (p.Arg176=) | |
| MT | m.12864T= | CA2499567764 | MT-ND5 | c.528T= (p.Arg176=) | |
| MT | m.12865A= | CA2499567765 | MT-ND5 | c.529A= (p.Ile177=) | |
| MT | m.12865A>C | CA414815226 | MT-ND5 | c.529A>C (p.Ile177Leu) | |
| MT | m.12865A>G | CA414815227 | MT-ND5 | c.529A>G (p.Ile177Val) | ClinVar dbSNP |
| MT | m.12865A>T | CA414815230 | MT-ND5 | c.529A>T (p.Ile177Phe) | |
| MT | m.12866T>A | CA414815235 | MT-ND5 | c.530T>A (p.Ile177Asn) | |
| MT | m.12866T>C | CA414815232 | MT-ND5 | c.530T>C (p.Ile177Thr) | dbSNP |
| MT | m.12866T>G | CA414815233 | MT-ND5 | c.530T>G (p.Ile177Ser) | |
| MT | m.12866T= | CA2573321913 | MT-ND5 | c.530T= (p.Ile177=) | |
| MT | m.12867C>A | CA913170575 | MT-ND5 | c.531C>A (p.Ile177=) | |
| MT | m.12867C= | CA2499567766 | MT-ND5 | c.531C= (p.Ile177=) | |
| MT | m.12867C>G | CA414815238 | MT-ND5 | c.531C>G (p.Ile177Met) | |
| MT | m.12867C>T | CA913170574 | MT-ND5 | c.531C>T (p.Ile177=) | dbSNP |
| MT | m.12867_12868insTCAGCCATAATTTACGTCTCGAGTGATGTGGGCGATTGATGAAAAGGCGGTTGAGGCGTCTGGTGAGTAGTGCAT | CA2741808496 | MT-ND5 | c.531_532insTCAGCCATAATTTACGTCTCGAGTGATGTGGGCGATTGATGAAAAGGCGGTTGAGGCGTCTGGTGAGTAGTGCAT | |
| MT | m.12867_12868insTCAGCCATAATTTACGTCTCGAGTGATGTGGGCGATTGATGAAAAGGCGGTTGAGGCGTCTGGTGAGTAGTGCATGGCTAGGAATAGTCCTGTGGTGATTTGGAGGATCAGGCA | CA2573105244 | MT-ND5 | c.531_532insTCAGCCATAATTTACGTCTCGAGTGATGTGGGCGATTGATGAAAAGGCGGTTGAGGCGTCTGGTGAGTAGTGCATGGCTAGGAATAGTCCTGTGGTGATTTGGAGGATCAGGCA | |
| MT | m.12868G>A | CA414815240 | MT-ND5 | c.532G>A (p.Gly178Ser) | ClinVar dbSNP |
| MT | m.12868G>C | CA414815242 | MT-ND5 | c.532G>C (p.Gly178Arg) | |
| MT | m.12868G= | CA2499567767 | MT-ND5 | c.532G= (p.Gly178=) | |
| MT | m.12868G>T | CA414815244 | MT-ND5 | c.532G>T (p.Gly178Cys) | |
| MT | m.12869G>A | CA414815246 | MT-ND5 | c.533G>A (p.Gly178Asp) | COSMIC |
| MT | m.12869G>C | CA414815248 | MT-ND5 | c.533G>C (p.Gly178Ala) | |
| MT | m.12869G= | CA2573321927 | MT-ND5 | c.533G= (p.Gly178=) | |
| MT | m.12869G>T | CA414815249 | MT-ND5 | c.533G>T (p.Gly178Val) | |
| MT | m.12870C>A | CA913170576 | MT-ND5 | c.534C>A (p.Gly178=) | |
| MT | m.12870C= | CA2499567768 | MT-ND5 | c.534C= (p.Gly178=) | |
| MT | m.12870C>G | CA913170577 | MT-ND5 | c.534C>G (p.Gly178=) | |
| MT | m.12870C>T | CA913170578 | MT-ND5 | c.534C>T (p.Gly178=) | dbSNP |
| MT | m.12871G>A | CA414815252 | MT-ND5 | c.535G>A (p.Asp179Asn) | |
| MT | m.12871G>C | CA414815254 | MT-ND5 | c.535G>C (p.Asp179His) | |
| MT | m.12871G= | CA2573321937 | MT-ND5 | c.535G= (p.Asp179=) | |
| MT | m.12871G>T | CA414815255 | MT-ND5 | c.535G>T (p.Asp179Tyr) | |
| MT | m.12872A= | CA2573321939 | MT-ND5 | c.536A= (p.Asp179=) | |
| MT | m.12872A>C | CA414815261 | MT-ND5 | c.536A>C (p.Asp179Ala) | |
| MT | m.12872A>G | CA414815260 | MT-ND5 | c.536A>G (p.Asp179Gly) | |
| MT | m.12872A>T | CA414815258 | MT-ND5 | c.536A>T (p.Asp179Val) | |
| MT | m.12873T>A | CA414815266 | MT-ND5 | c.537T>A (p.Asp179Glu) | |
| MT | m.12873T>C | CA913170579 | MT-ND5 | c.537T>C (p.Asp179=) | dbSNP |
| MT | m.12873T>G | CA414815264 | MT-ND5 | c.537T>G (p.Asp179Glu) | |
| MT | m.12873T= | CA2499567769 | MT-ND5 | c.537T= (p.Asp179=) | |
| MT | m.12874A= | CA2573321947 | MT-ND5 | c.538A= (p.Ile180=) | |
| MT | m.12874A>C | CA414815272 | MT-ND5 | c.538A>C (p.Ile180Leu) | |
| MT | m.12874A>G | CA414815268 | MT-ND5 | c.538A>G (p.Ile180Val) | |
| MT | m.12874A>T | CA414815270 | MT-ND5 | c.538A>T (p.Ile180Phe) | |
| MT | m.12875T>A | CA414815274 | MT-ND5 | c.539T>A (p.Ile180Asn) | |
| MT | m.12875T>C | CA414815276 | MT-ND5 | c.539T>C (p.Ile180Thr) | |
| MT | m.12875T>G | CA414815278 | MT-ND5 | c.539T>G (p.Ile180Ser) | |
| MT | m.12875T= | CA2513151299 | MT-ND5 | c.539T= (p.Ile180=) | |
| MT | m.12876C>A | CA913170580 | MT-ND5 | c.540C>A (p.Ile180=) | |
| MT | m.12876C= | CA2499567770 | MT-ND5 | c.540C= (p.Ile180=) | |
| MT | m.12876C>G | CA414815280 | MT-ND5 | c.540C>G (p.Ile180Met) | |
| MT | m.12876C>T | CA913170581 | MT-ND5 | c.540C>T (p.Ile180=) | dbSNP |
| MT | m.12877G>A | CA414815283 | MT-ND5 | c.541G>A (p.Gly181Ser) | |
| MT | m.12877G>C | CA414815284 | MT-ND5 | c.541G>C (p.Gly181Arg) | |
| MT | m.12877G= | CA2573321952 | MT-ND5 | c.541G= (p.Gly181=) | |
| MT | m.12877G>T | CA414815286 | MT-ND5 | c.541G>T (p.Gly181Cys) | |
| MT | m.12878G>A | CA414815292 | MT-ND5 | c.542G>A (p.Gly181Asp) | |
| MT | m.12878G>C | CA414815291 | MT-ND5 | c.542G>C (p.Gly181Ala) | |
| MT | m.12878G= | CA2573321955 | MT-ND5 | c.542G= (p.Gly181=) | |
| MT | m.12878G>T | CA414815289 | MT-ND5 | c.542G>T (p.Gly181Val) | |
| MT | m.12879T>A | CA913170582 | MT-ND5 | c.543T>A (p.Gly181=) | |
| MT | m.12879T>C | CA913170583 | MT-ND5 | c.543T>C (p.Gly181=) | dbSNP |
| MT | m.12879T>G | CA913170584 | MT-ND5 | c.543T>G (p.Gly181=) | |
| MT | m.12879T= | CA2499567771 | MT-ND5 | c.543T= (p.Gly181=) | |
| MT | m.12880T>A | CA414815295 | MT-ND5 | c.544T>A (p.Phe182Ile) | |
| MT | m.12880T>C | CA414815296 | MT-ND5 | c.544T>C (p.Phe182Leu) | ClinVar dbSNP |
| MT | m.12880T>G | CA337099560 | MT-ND5 | c.544T>G (p.Phe182Val) | dbSNP |
| MT | m.12880T= | CA2499567772 | MT-ND5 | c.544T= (p.Phe182=) | |
| MT | m.12881T>A | CA414815300 | MT-ND5 | c.545T>A (p.Phe182Tyr) | |
| MT | m.12881T>C | CA414815302 | MT-ND5 | c.545T>C (p.Phe182Ser) | dbSNP |
| MT | m.12881T>G | CA414815304 | MT-ND5 | c.545T>G (p.Phe182Cys) | |
| MT | m.12881T= | CA2499567773 | MT-ND5 | c.545T= (p.Phe182=) | |
| MT | m.12882C>A | CA337099562 | MT-ND5 | c.546C>A (p.Phe182Leu) | |
| MT | m.12882C= | CA2499567774 | MT-ND5 | c.546C= (p.Phe182=) | |
| MT | m.12882C>G | CA337099564 | MT-ND5 | c.546C>G (p.Phe182Leu) | |
| MT | m.12882C>T | CA913170585 | MT-ND5 | c.546C>T (p.Phe182=) | dbSNP |
| MT | m.12883A= | CA2573321967 | MT-ND5 | c.547A= (p.Ile183=) | |
| MT | m.12883A>C | CA414815310 | MT-ND5 | c.547A>C (p.Ile183Leu) | |
| MT | m.12883A>G | CA414815312 | MT-ND5 | c.547A>G (p.Ile183Val) | |
| MT | m.12883A>T | CA414815313 | MT-ND5 | c.547A>T (p.Ile183Phe) | |
| MT | m.12884T>A | CA414815318 | MT-ND5 | c.548T>A (p.Ile183Asn) | |
| MT | m.12884T>C | CA414815319 | MT-ND5 | c.548T>C (p.Ile183Thr) | |
| MT | m.12884T>G | CA414815316 | MT-ND5 | c.548T>G (p.Ile183Ser) | |
| MT | m.12884T= | CA2573321972 | MT-ND5 | c.548T= (p.Ile183=) | |
| MT | m.12885C>A | CA913170586 | MT-ND5 | c.549C>A (p.Ile183=) | |
| MT | m.12885C= | CA2499567775 | MT-ND5 | c.549C= (p.Ile183=) | |
| MT | m.12885C>G | CA414815322 | MT-ND5 | c.549C>G (p.Ile183Met) | |
| MT | m.12885C>T | CA913170587 | MT-ND5 | c.549C>T (p.Ile183=) | dbSNP |
| MT | m.12886C>A | CA414815324 | MT-ND5 | c.550C>A (p.Leu184Ile) | |
| MT | m.12886C= | CA2573321975 | MT-ND5 | c.550C= (p.Leu184=) | |
| MT | m.12886C>G | CA414815326 | MT-ND5 | c.550C>G (p.Leu184Val) | |
| MT | m.12886C>T | CA414815328 | MT-ND5 | c.550C>T (p.Leu184Phe) | |
| MT | m.12887T>A | CA414815330 | MT-ND5 | c.551T>A (p.Leu184His) | |
| MT | m.12887T>C | CA414815332 | MT-ND5 | c.551T>C (p.Leu184Pro) | |
| MT | m.12887T>G | CA414815334 | MT-ND5 | c.551T>G (p.Leu184Arg) | |
| MT | m.12887T= | CA2573321980 | MT-ND5 | c.551T= (p.Leu184=) | |
| MT | m.12888C>A | CA913170588 | MT-ND5 | c.552C>A (p.Leu184=) | |
| MT | m.12888C= | CA2573321983 | MT-ND5 | c.552C= (p.Leu184=) | |
| MT | m.12888C>G | CA913170589 | MT-ND5 | c.552C>G (p.Leu184=) | |
| MT | m.12888C>T | CA913170590 | MT-ND5 | c.552C>T (p.Leu184=) | |
| MT | m.12889G>A | CA414815336 | MT-ND5 | c.553G>A (p.Ala185Thr) | ClinVar dbSNP |
| MT | m.12889G>C | CA414815338 | MT-ND5 | c.553G>C (p.Ala185Pro) | |
| MT | m.12889G= | CA2499567776 | MT-ND5 | c.553G= (p.Ala185=) | |
| MT | m.12889G>T | CA414815339 | MT-ND5 | c.553G>T (p.Ala185Ser) | |
| MT | m.12890C>A | CA414815346 | MT-ND5 | c.554C>A (p.Ala185Asp) | |
| MT | m.12890C= | CA2499567777 | MT-ND5 | c.554C= (p.Ala185=) | |
| MT | m.12890C>G | CA414815344 | MT-ND5 | c.554C>G (p.Ala185Gly) | |
| MT | m.12890C>T | CA414815342 | MT-ND5 | c.554C>T (p.Ala185Val) | ClinVar dbSNP |
| MT | m.12891C>A | CA913170593 | MT-ND5 | c.555C>A (p.Ala185=) | |
| MT | m.12891C= | CA2499567778 | MT-ND5 | c.555C= (p.Ala185=) | |
| MT | m.12891C>G | CA913170591 | MT-ND5 | c.555C>G (p.Ala185=) | |
| MT | m.12891C>T | CA913170592 | MT-ND5 | c.555C>T (p.Ala185=) | dbSNP |
| MT | m.12892T>A | CA414815348 | MT-ND5 | c.556T>A (p.Leu186Ile) | |
| MT | m.12892T>C | CA913170594 | MT-ND5 | c.556T>C (p.Leu186=) | dbSNP |
| MT | m.12892T>G | CA414815350 | MT-ND5 | c.556T>G (p.Leu186Val) | |
| MT | m.12892T= | CA2499567779 | MT-ND5 | c.556T= (p.Leu186=) | |
| MT | m.12893T>A | CA414815353 | MT-ND5 | c.557T>A (p.Leu186Ter) | |
| MT | m.12893T>C | CA414815354 | MT-ND5 | c.557T>C (p.Leu186Ser) | |
| MT | m.12893T>G | CA414815356 | MT-ND5 | c.557T>G (p.Leu186Ter) | |
| MT | m.12893T= | CA2573322027 | MT-ND5 | c.557T= (p.Leu186=) | |
| MT | m.12894A= | CA2499567780 | MT-ND5 | c.558A= (p.Leu186=) | |
| MT | m.12894A>C | CA414815359 | MT-ND5 | c.558A>C (p.Leu186Phe) | |
| MT | m.12894A>G | CA913170595 | MT-ND5 | c.558A>G (p.Leu186=) | dbSNP |
| MT | m.12894A>T | CA414815360 | MT-ND5 | c.558A>T (p.Leu186Phe) | |
| MT | m.12895G>A | CA414815364 | MT-ND5 | c.559G>A (p.Ala187Thr) | COSMIC |
| MT | m.12895G>C | CA414815365 | MT-ND5 | c.559G>C (p.Ala187Pro) | |
| MT | m.12895G= | CA2573322039 | MT-ND5 | c.559G= (p.Ala187=) | |
| MT | m.12895G>T | CA414815367 | MT-ND5 | c.559G>T (p.Ala187Ser) | |
| MT | m.12896C>A | CA414815370 | MT-ND5 | c.560C>A (p.Ala187Glu) | |
| MT | m.12896C= | CA2573322046 | MT-ND5 | c.560C= (p.Ala187=) | |
| MT | m.12896C>G | CA414815371 | MT-ND5 | c.560C>G (p.Ala187Gly) | |
| MT | m.12896C>T | CA414815373 | MT-ND5 | c.560C>T (p.Ala187Val) | |
| MT | m.12897A= | CA2573322052 | MT-ND5 | c.561A= (p.Ala187=) | |
| MT | m.12897A>C | CA913170596 | MT-ND5 | c.561A>C (p.Ala187=) | |
| MT | m.12897A>G | CA913170597 | MT-ND5 | c.561A>G (p.Ala187=) | |
| MT | m.12897A>T | CA913170598 | MT-ND5 | c.561A>T (p.Ala187=) | |
| MT | m.12898T>A | CA414815380 | MT-ND5 | c.562T>A (p.Ter188Arg) | |
| MT | m.12898T>C | CA414815382 | MT-ND5 | c.562T>C (p.Ter188Arg) | |
| MT | m.12898T>G | CA414815376 | MT-ND5 | c.562T>G (p.Ter188Gly) | |
| MT | m.12898T= | CA414815377 | MT-ND5 | c.562T= (p.Ter188=) | |
| MT | m.12899G>A | CA414815386 | MT-ND5 | c.563G>A (p.Ter188=) | |
| MT | m.12899G>C | CA414815384 | MT-ND5 | c.563G>C (p.Ter188Ser) | |
| MT | m.12899G= | CA414815390 | MT-ND5 | c.563G= (p.Ter188=) | |
| MT | m.12899G>T | CA414815388 | MT-ND5 | c.563G>T (p.Ter188Leu) | |
| MT | m.12900A= | CA414815392 | MT-ND5 | c.564A= (p.Ter188=) | |
| MT | m.12900A>C | CA414815393 | MT-ND5 | c.564A>C (p.Ter188Cys) | |
| MT | m.12900A>G | CA414815396 | MT-ND5 | c.564A>G (p.Ter188Trp) | dbSNP |
| MT | m.12900A>T | CA414815398 | MT-ND5 | c.564A>T (p.Ter188Cys) | |
| MT | m.12901T>A | CA414815401 | MT-ND5 | c.565T>A (p.Phe189Ile) | |
| MT | m.12901T>C | CA414815402 | MT-ND5 | c.565T>C (p.Phe189Leu) | |
| MT | m.12901T>G | CA414815404 | MT-ND5 | c.565T>G (p.Phe189Val) | |
| MT | m.12901T= | CA2573322074 | MT-ND5 | c.565T= (p.Phe189=) | |
| MT | m.12902T>A | CA414815406 | MT-ND5 | c.566T>A (p.Phe189Tyr) | |
| MT | m.12902T>C | CA414815408 | MT-ND5 | c.566T>C (p.Phe189Ser) | |
| MT | m.12902T>G | CA414815409 | MT-ND5 | c.566T>G (p.Phe189Cys) | |
| MT | m.12902T= | CA2573322081 | MT-ND5 | c.566T= (p.Phe189=) | |
| MT | m.12903T>A | CA414815414 | MT-ND5 | c.567T>A (p.Phe189Leu) | |
| MT | m.12903T>C | CA10581297 | MT-ND5 | c.567T>C (p.Phe189=) | ClinVar dbSNP |
| MT | m.12903T>G | CA414815412 | MT-ND5 | c.567T>G (p.Phe189Leu) | |
| MT | m.12903T= | CA2499567781 | MT-ND5 | c.567T= (p.Phe189=) | |
| MT | m.12904A= | CA2499567782 | MT-ND5 | c.568A= (p.Ile190=) | |
| MT | m.12904A>C | CA337099567 | MT-ND5 | c.568A>C (p.Ile190Leu) | |
| MT | m.12904A>G | CA414815418 | MT-ND5 | c.568A>G (p.Ile190Val) | ClinVar dbSNP |
| MT | m.12904A>T | CA337099569 | MT-ND5 | c.568A>T (p.Ile190Phe) | |
| MT | m.12905T>A | CA414815422 | MT-ND5 | c.569T>A (p.Ile190Asn) | |
| MT | m.12905T>C | CA414815423 | MT-ND5 | c.569T>C (p.Ile190Thr) | ClinVar dbSNP |
| MT | m.12905T>G | CA414815425 | MT-ND5 | c.569T>G (p.Ile190Ser) | dbSNP |
| MT | m.12905T= | CA2499567783 | MT-ND5 | c.569T= (p.Ile190=) | |
| MT | m.12906C>A | CA913170599 | MT-ND5 | c.570C>A (p.Ile190=) | ClinVar dbSNP |
| MT | m.12906C= | CA2499567784 | MT-ND5 | c.570C= (p.Ile190=) | |
| MT | m.12906C>G | CA414815428 | MT-ND5 | c.570C>G (p.Ile190Met) | |
| MT | m.12906C>T | CA337099571 | MT-ND5 | c.570C>T (p.Ile190=) | dbSNP |