| 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.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=) | |
| MT | m.8953A= | CA2499566009 | MT-ATP6 | c.427A= (p.Ile143=) | |
| MT | m.8953A>C | CA414799142 | MT-ATP6 | c.427A>C (p.Ile143Leu) | |
| MT | m.8953A>G | CA414799145 | MT-ATP6 | c.427A>G (p.Ile143Val) | ClinVar dbSNP |
| MT | m.8953A>T | CA414799147 | MT-ATP6 | c.427A>T (p.Ile143Phe) | |
| MT | m.8954T>A | CA414799151 | MT-ATP6 | c.428T>A (p.Ile143Asn) | |
| MT | m.8954T>C | CA414799154 | MT-ATP6 | c.428T>C (p.Ile143Thr) | ClinVar dbSNP |
| MT | m.8954T>G | CA414799156 | MT-ATP6 | c.428T>G (p.Ile143Ser) | |
| MT | m.8954T= | CA2499566010 | MT-ATP6 | c.428T= (p.Ile143=) | |
| MT | m.8955T>A | CA913180911 | MT-ATP6 | c.429T>A (p.Ile143=) | |
| MT | m.8955T>C | CA913180910 | MT-ATP6 | c.429T>C (p.Ile143=) | dbSNP |
| MT | m.8955T>G | CA414799160 | MT-ATP6 | c.429T>G (p.Ile143Met) | |
| MT | m.8955T= | CA2499566011 | MT-ATP6 | c.429T= (p.Ile143=) | |
| MT | m.8956A= | CA2573330621 | MT-ATP6 | c.430A= (p.Ile144=) | |
| MT | m.8956A>C | CA414799162 | MT-ATP6 | c.430A>C (p.Ile144Leu) | |
| MT | m.8956A>G | CA414799164 | MT-ATP6 | c.430A>G (p.Ile144Val) | |
| MT | m.8956A>T | CA414799166 | MT-ATP6 | c.430A>T (p.Ile144Phe) | |
| MT | m.8957T>A | CA414799174 | MT-ATP6 | c.431T>A (p.Ile144Asn) | |
| MT | m.8957T>C | CA414799169 | MT-ATP6 | c.431T>C (p.Ile144Thr) | |
| MT | m.8957T>G | CA414799171 | MT-ATP6 | c.431T>G (p.Ile144Ser) | |
| MT | m.8957T= | CA2573330625 | MT-ATP6 | c.431T= (p.Ile144=) | |
| MT | m.8958C>A | CA913180916 | MT-ATP6 | c.432C>A (p.Ile144=) | dbSNP |
| MT | m.8958C= | CA2499566012 | MT-ATP6 | c.432C= (p.Ile144=) | |
| MT | m.8958C>G | CA414799177 | MT-ATP6 | c.432C>G (p.Ile144Met) | |
| MT | m.8958C>T | CA913180915 | MT-ATP6 | c.432C>T (p.Ile144=) | dbSNP |
| MT | m.8959G>A | CA414801650 | MT-ATP6 | c.433G>A (p.Glu145Lys) | ClinVar dbSNP |
| MT | m.8959G>C | CA414801652 | MT-ATP6 | c.433G>C (p.Glu145Gln) | |
| MT | m.8959G= | CA2499566013 | MT-ATP6 | c.433G= (p.Glu145=) | |
| MT | m.8959G>T | CA414801654 | MT-ATP6 | c.433G>T (p.Glu145Ter) | |
| MT | m.8960A= | CA2573330628 | MT-ATP6 | c.434A= (p.Glu145=) | |
| MT | m.8960A>C | CA414801656 | MT-ATP6 | c.434A>C (p.Glu145Ala) | |
| MT | m.8960A>G | CA414801658 | MT-ATP6 | c.434A>G (p.Glu145Gly) | |
| MT | m.8960A>T | CA414801660 | MT-ATP6 | c.434A>T (p.Glu145Val) | |
| MT | m.8961A= | CA2499566014 | MT-ATP6 | c.435A= (p.Glu145=) | |
| MT | m.8961A>C | CA414801661 | MT-ATP6 | c.435A>C (p.Glu145Asp) | |
| MT | m.8961A>G | CA913180920 | MT-ATP6 | c.435A>G (p.Glu145=) | dbSNP |
| MT | m.8961A>T | CA414801663 | MT-ATP6 | c.435A>T (p.Glu145Asp) | |
| MT | m.8962A= | CA2499566015 | MT-ATP6 | c.436A= (p.Thr146=) | |
| MT | m.8962A>C | CA414801669 | MT-ATP6 | c.436A>C (p.Thr146Pro) | |
| MT | m.8962A>G | CA414801667 | MT-ATP6 | c.436A>G (p.Thr146Ala) | ClinVar dbSNP |
| MT | m.8962A>T | CA414801666 | MT-ATP6 | c.436A>T (p.Thr146Ser) | dbSNP |
| MT | m.8963C>A | CA414801672 | MT-ATP6 | c.437C>A (p.Thr146Asn) | |
| MT | m.8963C= | CA2499566016 | MT-ATP6 | c.437C= (p.Thr146=) | |
| MT | m.8963C>G | CA414801673 | MT-ATP6 | c.437C>G (p.Thr146Ser) | |
| MT | m.8963C>T | CA414801675 | MT-ATP6 | c.437C>T (p.Thr146Ile) | dbSNP |
| MT | m.8964C>A | CA913180927 | MT-ATP6 | c.438C>A (p.Thr146=) | |
| MT | m.8964C= | CA2499566017 | MT-ATP6 | c.438C= (p.Thr146=) | |
| MT | m.8964C>G | CA913180928 | MT-ATP6 | c.438C>G (p.Thr146=) | |
| MT | m.8964C>T | CA337098127 | MT-ATP6 | c.438C>T (p.Thr146=) | dbSNP |
| MT | m.8965A= | CA2573330638 | MT-ATP6 | c.439A= (p.Ile147=) | |
| MT | m.8965A>C | CA414801679 | MT-ATP6 | c.439A>C (p.Ile147Leu) | |
| MT | m.8965A>G | CA414801680 | MT-ATP6 | c.439A>G (p.Ile147Val) | |
| MT | m.8965A>T | CA414801682 | MT-ATP6 | c.439A>T (p.Ile147Phe) | |
| MT | m.8966T>A | CA414801685 | MT-ATP6 | c.440T>A (p.Ile147Asn) | |
| MT | m.8966T>C | CA414801686 | MT-ATP6 | c.440T>C (p.Ile147Thr) | ClinVar dbSNP |
| MT | m.8966T>G | CA414801688 | MT-ATP6 | c.440T>G (p.Ile147Ser) | dbSNP |
| MT | m.8966T= | CA2499566018 | MT-ATP6 | c.440T= (p.Ile147=) | |
| MT | m.8967C>A | CA913180934 | MT-ATP6 | c.441C>A (p.Ile147=) | dbSNP |
| MT | m.8967C= | CA2499566019 | MT-ATP6 | c.441C= (p.Ile147=) | |
| MT | m.8967C>G | CA414801690 | MT-ATP6 | c.441C>G (p.Ile147Met) | |
| MT | m.8967C>T | CA913180933 | MT-ATP6 | c.441C>T (p.Ile147=) | dbSNP |
| MT | m.8968A= | CA2573330648 | MT-ATP6 | c.442A= (p.Ser148=) | |
| MT | m.8968A>C | CA414801696 | MT-ATP6 | c.442A>C (p.Ser148Arg) | |
| MT | m.8968A>G | CA414801692 | MT-ATP6 | c.442A>G (p.Ser148Gly) | |
| MT | m.8968A>T | CA414801694 | MT-ATP6 | c.442A>T (p.Ser148Cys) | |
| MT | m.8969G>A | CA199769 | MT-ATP6 | c.443G>A (p.Ser148Asn) | ClinVar dbSNP |
| MT | m.8969G>C | CA414801699 | MT-ATP6 | c.443G>C (p.Ser148Thr) | dbSNP |
| MT | m.8969G= | CA2499566020 | MT-ATP6 | c.443G= (p.Ser148=) | |
| MT | m.8969G>T | CA414801701 | MT-ATP6 | c.443G>T (p.Ser148Ile) | |
| MT | m.8970C>A | CA414801703 | MT-ATP6 | c.444C>A (p.Ser148Arg) | |
| MT | m.8970C= | CA2499566021 | MT-ATP6 | c.444C= (p.Ser148=) | |
| MT | m.8970C>G | CA414801705 | MT-ATP6 | c.444C>G (p.Ser148Arg) | |
| MT | m.8970C>T | CA913180938 | MT-ATP6 | c.444C>T (p.Ser148=) | dbSNP |
| MT | m.8971C>A | CA414801707 | MT-ATP6 | c.445C>A (p.Leu149Ile) | |
| MT | m.8971C= | CA2573330656 | MT-ATP6 | c.445C= (p.Leu149=) | |
| MT | m.8971C>G | CA414801709 | MT-ATP6 | c.445C>G (p.Leu149Val) | |
| MT | m.8971C>T | CA913180943 | MT-ATP6 | c.445C>T (p.Leu149=) | |
| MT | m.8972T>A | CA414801711 | MT-ATP6 | c.446T>A (p.Leu149Gln) | |
| MT | m.8972T>C | CA414801712 | MT-ATP6 | c.446T>C (p.Leu149Pro) | ClinVar dbSNP |
| MT | m.8972T>G | CA414801713 | MT-ATP6 | c.446T>G (p.Leu149Arg) | dbSNP |
| MT | m.8972T= | CA2499566022 | MT-ATP6 | c.446T= (p.Leu149=) | |
| MT | m.8972_8973del | CA2573105003 | MT-ATP6 | c.446_447del (p.Leu149ProfsTer14) | |
| MT | m.8973A= | CA2573330662 | MT-ATP6 | c.447A= (p.Leu149=) | |
| MT | m.8973A>C | CA913180947 | MT-ATP6 | c.447A>C (p.Leu149=) | |
| MT | m.8973A>G | CA913180949 | MT-ATP6 | c.447A>G (p.Leu149=) | |
| MT | m.8973A>T | CA913180946 | MT-ATP6 | c.447A>T (p.Leu149=) | |
| MT | m.8974C>A | CA414801716 | MT-ATP6 | c.448C>A (p.Leu150Ile) | |
| MT | m.8974C= | CA2499566023 | MT-ATP6 | c.448C= (p.Leu150=) | |
| MT | m.8974C>G | CA414801715 | MT-ATP6 | c.448C>G (p.Leu150Val) | ClinVar dbSNP |
| MT | m.8974C>T | CA414801714 | MT-ATP6 | c.448C>T (p.Leu150Phe) | dbSNP |
| MT | m.8975T>A | CA414801717 | MT-ATP6 | c.449T>A (p.Leu150His) | |
| MT | m.8975T>C | CA337098132 | MT-ATP6 | c.449T>C (p.Leu150Pro) | ClinVar dbSNP |
| MT | m.8975T>G | CA414801718 | MT-ATP6 | c.449T>G (p.Leu150Arg) | |
| MT | m.8975T= | CA2499566024 | MT-ATP6 | c.449T= (p.Leu150=) | |
| MT | m.8976C>A | CA913180960 | MT-ATP6 | c.450C>A (p.Leu150=) | |
| MT | m.8976C= | CA2499566025 | MT-ATP6 | c.450C= (p.Leu150=) | |
| MT | m.8976C>G | CA913180961 | MT-ATP6 | c.450C>G (p.Leu150=) | |
| MT | m.8976C>T | CA913180958 | MT-ATP6 | c.450C>T (p.Leu150=) | dbSNP |
| MT | m.8977A= | CA2499566026 | MT-ATP6 | c.451A= (p.Ile151=) | |
| MT | m.8977A>C | CA414801719 | MT-ATP6 | c.451A>C (p.Ile151Leu) | |
| MT | m.8977A>G | CA414801720 | MT-ATP6 | c.451A>G (p.Ile151Val) | dbSNP |
| MT | m.8977A>T | CA414801722 | MT-ATP6 | c.451A>T (p.Ile151Phe) | |
| MT | m.8978T>A | CA414801725 | MT-ATP6 | c.452T>A (p.Ile151Asn) | |
| MT | m.8978T>C | CA414801726 | MT-ATP6 | c.452T>C (p.Ile151Thr) | ClinVar dbSNP |
| MT | m.8978T>G | CA414801727 | MT-ATP6 | c.452T>G (p.Ile151Ser) | |
| MT | m.8978T= | CA2499566027 | MT-ATP6 | c.452T= (p.Ile151=) | |
| MT | m.8979T>A | CA913180963 | MT-ATP6 | c.453T>A (p.Ile151=) | |
| MT | m.8979T>C | CA913180964 | MT-ATP6 | c.453T>C (p.Ile151=) | dbSNP |
| MT | m.8979T>G | CA414801730 | MT-ATP6 | c.453T>G (p.Ile151Met) | |
| MT | m.8979T= | CA2499566028 | MT-ATP6 | c.453T= (p.Ile151=) | |
| MT | m.8980C>A | CA414801732 | MT-ATP6 | c.454C>A (p.Gln152Lys) | ClinVar dbSNP |
| MT | m.8980C= | CA2499566029 | MT-ATP6 | c.454C= (p.Gln152=) | |
| MT | m.8980C>G | CA414801733 | MT-ATP6 | c.454C>G (p.Gln152Glu) | |
| MT | m.8980C>T | CA414801735 | MT-ATP6 | c.454C>T (p.Gln152Ter) | |
| MT | m.8981A= | CA2499566030 | MT-ATP6 | c.455A= (p.Gln152=) | |
| MT | m.8981A>C | CA414801742 | MT-ATP6 | c.455A>C (p.Gln152Pro) | |
| MT | m.8981A>G | CA414801738 | MT-ATP6 | c.455A>G (p.Gln152Arg) | ClinVar dbSNP |
| MT | m.8981A>T | CA414801739 | MT-ATP6 | c.455A>T (p.Gln152Leu) | |
| MT | m.8982A= | CA2573330688 | MT-ATP6 | c.456A= (p.Gln152=) | |
| MT | m.8982A>C | CA414801744 | MT-ATP6 | c.456A>C (p.Gln152His) | |
| MT | m.8982A>G | CA913180969 | MT-ATP6 | c.456A>G (p.Gln152=) | |
| MT | m.8982A>T | CA414801745 | MT-ATP6 | c.456A>T (p.Gln152His) | |
| MT | m.8983C>A | CA414801747 | MT-ATP6 | c.457C>A (p.Pro153Thr) | |
| MT | m.8983C= | CA2573330695 | MT-ATP6 | c.457C= (p.Pro153=) | |
| MT | m.8983C>G | CA414801749 | MT-ATP6 | c.457C>G (p.Pro153Ala) | |
| MT | m.8983C>T | CA414801751 | MT-ATP6 | c.457C>T (p.Pro153Ser) | |
| MT | m.8984C>A | CA414801753 | MT-ATP6 | c.458C>A (p.Pro153Gln) | |
| MT | m.8984C= | CA2573330701 | MT-ATP6 | c.458C= (p.Pro153=) | |
| MT | m.8984C>G | CA414801755 | MT-ATP6 | c.458C>G (p.Pro153Arg) | |
| MT | m.8984C>T | CA414801757 | MT-ATP6 | c.458C>T (p.Pro153Leu) | |
| MT | m.8985A= | CA2573330705 | MT-ATP6 | c.459A= (p.Pro153=) | |
| MT | m.8985A>C | CA913180973 | MT-ATP6 | c.459A>C (p.Pro153=) | |
| MT | m.8985A>G | CA913180972 | MT-ATP6 | c.459A>G (p.Pro153=) | dbSNP |
| MT | m.8985A>T | CA913180974 | MT-ATP6 | c.459A>T (p.Pro153=) | |
| MT | m.8986A= | CA2499566031 | MT-ATP6 | c.460A= (p.Ile154=) | |
| MT | m.8986A>C | CA414801759 | MT-ATP6 | c.460A>C (p.Ile154Leu) | |
| MT | m.8986A>G | CA414801761 | MT-ATP6 | c.460A>G (p.Ile154Val) | ClinVar dbSNP |
| MT | m.8986A>T | CA414801763 | MT-ATP6 | c.460A>T (p.Ile154Leu) | |
| MT | m.8987T>A | CA414801765 | MT-ATP6 | c.461T>A (p.Ile154Lys) | |
| MT | m.8987T>C | CA414801769 | MT-ATP6 | c.461T>C (p.Ile154Thr) | ClinVar dbSNP |
| MT | m.8987T>G | CA414801767 | MT-ATP6 | c.461T>G (p.Ile154Arg) | |
| MT | m.8987T= | CA2499566032 | MT-ATP6 | c.461T= (p.Ile154=) | |
| MT | m.8987dup | CA2740098166 | MT-ATP6 | c.461dup (p.Ala155SerfsTer9) | |
| MT | m.8988A= | CA2499566033 | MT-ATP6 | c.462A= (p.Ile154=) | |
| MT | m.8988A>C | CA913180978 | MT-ATP6 | c.462A>C (p.Ile154=) | |
| MT | m.8988A>G | CA414801771 | MT-ATP6 | c.462A>G (p.Ile154Met) | dbSNP |
| MT | m.8988A>T | CA913180977 | MT-ATP6 | c.462A>T (p.Ile154=) | |
| MT | m.8989G>A | CA414801774 | MT-ATP6 | c.463G>A (p.Ala155Thr) | ClinVar dbSNP |
| MT | m.8989G>C | CA345922 | MT-ATP6 | c.463G>C (p.Ala155Pro) | ClinVar dbSNP |
| MT | m.8989G= | CA2499566034 | MT-ATP6 | c.463G= (p.Ala155=) | |
| MT | m.8989G>T | CA414801775 | MT-ATP6 | c.463G>T (p.Ala155Ser) | |
| MT | m.8990C>A | CA414801778 | MT-ATP6 | c.464C>A (p.Ala155Asp) | |
| MT | m.8990C= | CA2573330716 | MT-ATP6 | c.464C= (p.Ala155=) | |
| MT | m.8990C>G | CA414801780 | MT-ATP6 | c.464C>G (p.Ala155Gly) | |
| MT | m.8990C>T | CA414801781 | MT-ATP6 | c.464C>T (p.Ala155Val) | |
| MT | m.8991C>A | CA913180981 | MT-ATP6 | c.465C>A (p.Ala155=) | |
| MT | m.8991C= | CA2573330718 | MT-ATP6 | c.465C= (p.Ala155=) | |
| MT | m.8991C>G | CA913180979 | MT-ATP6 | c.465C>G (p.Ala155=) | |
| MT | m.8991C>T | CA913180980 | MT-ATP6 | c.465C>T (p.Ala155=) | dbSNP |
| MT | m.8992C>A | CA414801784 | MT-ATP6 | c.466C>A (p.Leu156Met) | |
| MT | m.8992C= | CA2499566035 | MT-ATP6 | c.466C= (p.Leu156=) | |
| MT | m.8992C>G | CA414801786 | MT-ATP6 | c.466C>G (p.Leu156Val) | |
| MT | m.8992C>T | CA913180985 | MT-ATP6 | c.466C>T (p.Leu156=) | dbSNP |
| MT | m.8993T>A | CA414801787 | MT-ATP6 | c.467T>A (p.Leu156Gln) | |
| MT | m.8993T>C | CA120596 | MT-ATP6 | c.467T>C (p.Leu156Pro) | ClinVar dbSNP |
| MT | m.8993T>G | CA250380 | MT-ATP6 | c.467T>G (p.Leu156Arg) | ClinVar dbSNP |
| MT | m.8993T= | CA2499566036 | MT-ATP6 | c.467T= (p.Leu156=) | |
| MT | m.8993_8994delinsCA | CA915952057 | MT-ATP6 | c.467_468delinsCA (p.Leu156Pro) | ClinVar |
| MT | m.8994G>A | CA337098137 | MT-ATP6 | c.468G>A (p.Leu156=) | dbSNP |
| MT | m.8994G>C | CA913180986 | MT-ATP6 | c.468G>C (p.Leu156=) | |
| MT | m.8994G= | CA2499566037 | MT-ATP6 | c.468G= (p.Leu156=) | |
| MT | m.8994G>T | CA913180988 | MT-ATP6 | c.468G>T (p.Leu156=) | dbSNP |
| MT | m.8995G>A | CA414801793 | MT-ATP6 | c.469G>A (p.Ala157Thr) | dbSNP |
| MT | m.8995G>C | CA414801795 | MT-ATP6 | c.469G>C (p.Ala157Pro) | dbSNP COSMIC COSMIC |
| MT | m.8995G= | CA2499566038 | MT-ATP6 | c.469G= (p.Ala157=) | |
| MT | m.8995G>T | CA414801796 | MT-ATP6 | c.469G>T (p.Ala157Ser) | |
| MT | m.8996C>A | CA414801799 | MT-ATP6 | c.470C>A (p.Ala157Asp) | |
| MT | m.8996C= | CA2573330746 | MT-ATP6 | c.470C= (p.Ala157=) | |
| MT | m.8996C>G | CA414801800 | MT-ATP6 | c.470C>G (p.Ala157Gly) | |
| MT | m.8996C>T | CA414801802 | MT-ATP6 | c.470C>T (p.Ala157Val) | |
| MT | m.8997C>A | CA913180996 | MT-ATP6 | c.471C>A (p.Ala157=) | |
| MT | m.8997C= | CA2573330753 | MT-ATP6 | c.471C= (p.Ala157=) | |
| MT | m.8997C>G | CA913180993 | MT-ATP6 | c.471C>G (p.Ala157=) | |
| MT | m.8997C>T | CA913180995 | MT-ATP6 | c.471C>T (p.Ala157=) | |
| MT | m.8998G>A | CA337098139 | MT-ATP6 | c.472G>A (p.Val158Ile) | ClinVar dbSNP |
| MT | m.8998G>C | CA414801805 | MT-ATP6 | c.472G>C (p.Val158Leu) | |
| MT | m.8998G= | CA2499566039 | MT-ATP6 | c.472G= (p.Val158=) | |
| MT | m.8998G>T | CA414801807 | MT-ATP6 | c.472G>T (p.Val158Leu) | |
| MT | m.8999T>A | CA414801809 | MT-ATP6 | c.473T>A (p.Val158Glu) | |
| MT | m.8999T>C | CA414801811 | MT-ATP6 | c.473T>C (p.Val158Ala) | ClinVar dbSNP |
| MT | m.8999T>G | CA414801813 | MT-ATP6 | c.473T>G (p.Val158Gly) | |
| MT | m.8999T= | CA2499566040 | MT-ATP6 | c.473T= (p.Val158=) | |
| MT | m.9000A= | CA2499566041 | MT-ATP6 | c.474A= (p.Val158=) | |
| MT | m.9000A>C | CA913180998 | MT-ATP6 | c.474A>C (p.Val158=) | |
| MT | m.9000A>G | CA913181000 | MT-ATP6 | c.474A>G (p.Val158=) | dbSNP |
| MT | m.9000A>T | CA913180999 | MT-ATP6 | c.474A>T (p.Val158=) | |
| MT | m.9001C>A | CA414801818 | MT-ATP6 | c.475C>A (p.Arg159Ser) | |
| MT | m.9001C= | CA2573330767 | MT-ATP6 | c.475C= (p.Arg159=) | |
| MT | m.9001C>G | CA414801817 | MT-ATP6 | c.475C>G (p.Arg159Gly) | |
| MT | m.9001C>T | CA414801816 | MT-ATP6 | c.475C>T (p.Arg159Cys) | |
| MT | m.9002G>A | CA414801823 | MT-ATP6 | c.476G>A (p.Arg159His) | dbSNP |
| MT | m.9002G>C | CA414801821 | MT-ATP6 | c.476G>C (p.Arg159Pro) | |
| MT | m.9002G= | CA2573330768 | MT-ATP6 | c.476G= (p.Arg159=) | |
| MT | m.9002G>T | CA414801824 | MT-ATP6 | c.476G>T (p.Arg159Leu) | |
| MT | m.9003C>A | CA913181006 | MT-ATP6 | c.477C>A (p.Arg159=) | |
| MT | m.9003C= | CA2573330769 | MT-ATP6 | c.477C= (p.Arg159=) | |
| MT | m.9003C>G | CA913181005 | MT-ATP6 | c.477C>G (p.Arg159=) | |
| MT | m.9003C>T | CA913181004 | MT-ATP6 | c.477C>T (p.Arg159=) | |
| MT | m.9004C>A | CA414801826 | MT-ATP6 | c.478C>A (p.Leu160Ile) | |
| MT | m.9004C= | CA2499566042 | MT-ATP6 | c.478C= (p.Leu160=) | |
| MT | m.9004C>G | CA414801828 | MT-ATP6 | c.478C>G (p.Leu160Val) | |
| MT | m.9004C>T | CA913181007 | MT-ATP6 | c.478C>T (p.Leu160=) | dbSNP |
| MT | m.9005T>A | CA414801830 | MT-ATP6 | c.479T>A (p.Leu160Gln) | |
| MT | m.9005T>C | CA414801832 | MT-ATP6 | c.479T>C (p.Leu160Pro) | ClinVar dbSNP |
| MT | m.9005T>G | CA414801834 | MT-ATP6 | c.479T>G (p.Leu160Arg) | |
| MT | m.9005T= | CA2499566043 | MT-ATP6 | c.479T= (p.Leu160=) | |
| MT | m.9006A= | CA2499566044 | MT-ATP6 | c.480A= (p.Leu160=) | |
| MT | m.9006A>C | CA913181009 | MT-ATP6 | c.480A>C (p.Leu160=) | |
| MT | m.9006A>G | CA658653722 | MT-ATP6 | c.480A>G (p.Leu160=) | ClinVar dbSNP |
| MT | m.9006A>T | CA913181010 | MT-ATP6 | c.480A>T (p.Leu160=) | |
| MT | m.9007A= | CA2499566045 | MT-ATP6 | c.481A= (p.Thr161=) | |
| MT | m.9007A>C | CA414801840 | MT-ATP6 | c.481A>C (p.Thr161Pro) | |
| MT | m.9007A>G | CA414801839 | MT-ATP6 | c.481A>G (p.Thr161Ala) | ClinVar dbSNP |
| MT | m.9007A>T | CA414801836 | MT-ATP6 | c.481A>T (p.Thr161Ser) | ClinVar dbSNP |