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.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.8955del | CA2844594758 | MT-ATP6 | c.429del (p.Ile144SerfsTer11) | |
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 |
MT | m.9008C>A | CA414801842 | MT-ATP6 | c.482C>A (p.Thr161Asn) | |
MT | m.9008C= | CA2573330773 | MT-ATP6 | c.482C= (p.Thr161=) | |
MT | m.9008C>G | CA414801844 | MT-ATP6 | c.482C>G (p.Thr161Ser) | |
MT | m.9008C>T | CA414801846 | MT-ATP6 | c.482C>T (p.Thr161Ile) | |
MT | m.9009C>A | CA913181015 | MT-ATP6 | c.483C>A (p.Thr161=) | |
MT | m.9009C= | CA2573330776 | MT-ATP6 | c.483C= (p.Thr161=) | |
MT | m.9009C>G | CA913181017 | MT-ATP6 | c.483C>G (p.Thr161=) | |
MT | m.9009C>T | CA913181018 | MT-ATP6 | c.483C>T (p.Thr161=) | |
MT | m.9010G>A | CA414801848 | MT-ATP6 | c.484G>A (p.Ala162Thr) | ClinVar dbSNP |
MT | m.9010G>C | CA414801850 | MT-ATP6 | c.484G>C (p.Ala162Pro) | |
MT | m.9010G= | CA2499566046 | MT-ATP6 | c.484G= (p.Ala162=) | |
MT | m.9010G>T | CA414801852 | MT-ATP6 | c.484G>T (p.Ala162Ser) | |
MT | m.9011C>A | CA414801854 | MT-ATP6 | c.485C>A (p.Ala162Asp) | |
MT | m.9011C= | CA2499566047 | MT-ATP6 | c.485C= (p.Ala162=) | |
MT | m.9011C>G | CA414801858 | MT-ATP6 | c.485C>G (p.Ala162Gly) | |
MT | m.9011C>T | CA414801856 | MT-ATP6 | c.485C>T (p.Ala162Val) | dbSNP |
MT | m.9012T>A | CA913181022 | MT-ATP6 | c.486T>A (p.Ala162=) | |
MT | m.9012T>C | CA913181021 | MT-ATP6 | c.486T>C (p.Ala162=) | dbSNP |
MT | m.9012T>G | CA913181023 | MT-ATP6 | c.486T>G (p.Ala162=) | |
MT | m.9012T= | CA2499566048 | MT-ATP6 | c.486T= (p.Ala162=) | |
MT | m.9013A= | CA2573330785 | MT-ATP6 | c.487A= (p.Asn163=) | |
MT | m.9013A>C | CA414801859 | MT-ATP6 | c.487A>C (p.Asn163His) | |
MT | m.9013A>G | CA414801861 | MT-ATP6 | c.487A>G (p.Asn163Asp) | |
MT | m.9013A>T | CA414801863 | MT-ATP6 | c.487A>T (p.Asn163Tyr) | |
MT | m.9014A= | CA2499566049 | MT-ATP6 | c.488A= (p.Asn163=) | |
MT | m.9014A>C | CA414801865 | MT-ATP6 | c.488A>C (p.Asn163Thr) | |
MT | m.9014A>G | CA414801867 | MT-ATP6 | c.488A>G (p.Asn163Ser) | ClinVar dbSNP |
MT | m.9014A>T | CA414801869 | MT-ATP6 | c.488A>T (p.Asn163Ile) | |
MT | m.9015C>A | CA414801871 | MT-ATP6 | c.489C>A (p.Asn163Lys) | |
MT | m.9015C= | CA2499566050 | MT-ATP6 | c.489C= (p.Asn163=) | |
MT | m.9015C>G | CA414801873 | MT-ATP6 | c.489C>G (p.Asn163Lys) | |
MT | m.9015C>T | CA913181025 | MT-ATP6 | c.489C>T (p.Asn163=) | dbSNP |
MT | m.9016A= | CA2499566051 | MT-ATP6 | c.490A= (p.Ile164=) | |
MT | m.9016A>C | CA414801874 | MT-ATP6 | c.490A>C (p.Ile164Leu) | |
MT | m.9016A>G | CA414801876 | MT-ATP6 | c.490A>G (p.Ile164Val) | ClinVar dbSNP |
MT | m.9016A>T | CA414801878 | MT-ATP6 | c.490A>T (p.Ile164Phe) | |
MT | m.9017T>A | CA414801881 | MT-ATP6 | c.491T>A (p.Ile164Asn) | |
MT | m.9017T>C | CA414801885 | MT-ATP6 | c.491T>C (p.Ile164Thr) | dbSNP |
MT | m.9017T>G | CA414801883 | MT-ATP6 | c.491T>G (p.Ile164Ser) | |
MT | m.9017T= | CA2499566052 | MT-ATP6 | c.491T= (p.Ile164=) | |
MT | m.9018T>A | CA913181032 | MT-ATP6 | c.492T>A (p.Ile164=) | |
MT | m.9018T>C | CA337098142 | MT-ATP6 | c.492T>C (p.Ile164=) | dbSNP |
MT | m.9018T>G | CA414801887 | MT-ATP6 | c.492T>G (p.Ile164Met) | |
MT | m.9018T= | CA2499566053 | MT-ATP6 | c.492T= (p.Ile164=) | |
MT | m.9019A= | CA2499566054 | MT-ATP6 | c.493A= (p.Thr165=) | |
MT | m.9019A>C | CA414801890 | MT-ATP6 | c.493A>C (p.Thr165Pro) | |
MT | m.9019A>G | CA414801891 | MT-ATP6 | c.493A>G (p.Thr165Ala) | ClinVar dbSNP |
MT | m.9019A>T | CA414801893 | MT-ATP6 | c.493A>T (p.Thr165Ser) | |
MT | m.9020C>A | CA414801896 | MT-ATP6 | c.494C>A (p.Thr165Asn) | |
MT | m.9020C= | CA2573330809 | MT-ATP6 | c.494C= (p.Thr165=) | |
MT | m.9020C>G | CA414801897 | MT-ATP6 | c.494C>G (p.Thr165Ser) | |
MT | m.9020C>T | CA414801899 | MT-ATP6 | c.494C>T (p.Thr165Ile) | |
MT | m.9021T>A | CA913181040 | MT-ATP6 | c.495T>A (p.Thr165=) | |
MT | m.9021T>C | CA913181039 | MT-ATP6 | c.495T>C (p.Thr165=) | |
MT | m.9021T>G | CA913181036 | MT-ATP6 | c.495T>G (p.Thr165=) | |
MT | m.9021T= | CA2573330811 | MT-ATP6 | c.495T= (p.Thr165=) | |
MT | m.9022G>A | CA414801902 | MT-ATP6 | c.496G>A (p.Ala166Thr) | dbSNP |
MT | m.9022G>C | CA414801903 | MT-ATP6 | c.496G>C (p.Ala166Pro) | |
MT | m.9022G= | CA2499566055 | MT-ATP6 | c.496G= (p.Ala166=) | |
MT | m.9022G>T | CA414801904 | MT-ATP6 | c.496G>T (p.Ala166Ser) | |
MT | m.9023C>A | CA414801910 | MT-ATP6 | c.497C>A (p.Ala166Glu) | |
MT | m.9023C= | CA2573330819 | MT-ATP6 | c.497C= (p.Ala166=) | |
MT | m.9023C>G | CA414801909 | MT-ATP6 | c.497C>G (p.Ala166Gly) | |
MT | m.9023C>T | CA414801907 | MT-ATP6 | c.497C>T (p.Ala166Val) | |
MT | m.9024A= | CA2499566056 | MT-ATP6 | c.498A= (p.Ala166=) | |
MT | m.9024A>C | CA913181044 | MT-ATP6 | c.498A>C (p.Ala166=) | |
MT | m.9024A>G | CA913181043 | MT-ATP6 | c.498A>G (p.Ala166=) | dbSNP |
MT | m.9024A>T | CA913181045 | MT-ATP6 | c.498A>T (p.Ala166=) | |
MT | m.9025G>A | CA337098144 | MT-ATP6 | c.499G>A (p.Gly167Ser) | ClinVar dbSNP |
MT | m.9025G>C | CA414801913 | MT-ATP6 | c.499G>C (p.Gly167Arg) | |
MT | m.9025G= | CA2499566057 | MT-ATP6 | c.499G= (p.Gly167=) | |
MT | m.9025G>T | CA414801915 | MT-ATP6 | c.499G>T (p.Gly167Cys) | |
MT | m.9026G>A | CA414801916 | MT-ATP6 | c.500G>A (p.Gly167Asp) | ClinVar dbSNP COSMIC COSMIC |
MT | m.9026G>C | CA414801918 | MT-ATP6 | c.500G>C (p.Gly167Ala) | |
MT | m.9026G= | CA2499566058 | MT-ATP6 | c.500G= (p.Gly167=) | |
MT | m.9026G>T | CA414801920 | MT-ATP6 | c.500G>T (p.Gly167Val) | |
MT | m.9027C>A | CA913181052 | MT-ATP6 | c.501C>A (p.Gly167=) | |
MT | m.9027C= | CA2573330828 | MT-ATP6 | c.501C= (p.Gly167=) | |
MT | m.9027C>G | CA913181049 | MT-ATP6 | c.501C>G (p.Gly167=) | |
MT | m.9027C>T | CA913181046 | MT-ATP6 | c.501C>T (p.Gly167=) | |
MT | m.9028C>A | CA414801922 | MT-ATP6 | c.502C>A (p.His168Asn) | |
MT | m.9028C= | CA2499566059 | MT-ATP6 | c.502C= (p.His168=) | |
MT | m.9028C>G | CA414801924 | MT-ATP6 | c.502C>G (p.His168Asp) | |
MT | m.9028C>T | CA414801926 | MT-ATP6 | c.502C>T (p.His168Tyr) | ClinVar dbSNP |
MT | m.9029A= | CA2499566060 | MT-ATP6 | c.503A= (p.His168=) | |
MT | m.9029A>C | CA414801928 | MT-ATP6 | c.503A>C (p.His168Pro) | |
MT | m.9029A>G | CA414801930 | MT-ATP6 | c.503A>G (p.His168Arg) | ClinVar dbSNP |
MT | m.9029A>T | CA414801932 | MT-ATP6 | c.503A>T (p.His168Leu) | |
MT | m.9030C>A | CA414801933 | MT-ATP6 | c.504C>A (p.His168Gln) | |
MT | m.9030C= | CA2573320920 | MT-ATP6 | c.504C= (p.His168=) | |
MT | m.9030C>G | CA414801936 | MT-ATP6 | c.504C>G (p.His168Gln) | |
MT | m.9030C>T | CA913181056 | MT-ATP6 | c.504C>T (p.His168=) | |
MT | m.9031C>A | CA414801938 | MT-ATP6 | c.505C>A (p.Leu169Ile) | |
MT | m.9031C= | CA2499566061 | MT-ATP6 | c.505C= (p.Leu169=) | |
MT | m.9031C>G | CA414801940 | MT-ATP6 | c.505C>G (p.Leu169Val) | |
MT | m.9031C>T | CA913181060 | MT-ATP6 | c.505C>T (p.Leu169=) | dbSNP |
MT | m.9032T>A | CA414801942 | MT-ATP6 | c.506T>A (p.Leu169Gln) | |
MT | m.9032T>C | CA414801944 | MT-ATP6 | c.506T>C (p.Leu169Pro) | ClinVar dbSNP |
MT | m.9032T>G | CA414801946 | MT-ATP6 | c.506T>G (p.Leu169Arg) | |
MT | m.9032T= | CA2499566062 | MT-ATP6 | c.506T= (p.Leu169=) | |
MT | m.9033A= | CA2499566063 | MT-ATP6 | c.507A= (p.Leu169=) | |
MT | m.9033A>C | CA913181064 | MT-ATP6 | c.507A>C (p.Leu169=) | |
MT | m.9033A>G | CA913181062 | MT-ATP6 | c.507A>G (p.Leu169=) | dbSNP |
MT | m.9033A>T | CA913181061 | MT-ATP6 | c.507A>T (p.Leu169=) | |
MT | m.9034C>A | CA414801948 | MT-ATP6 | c.508C>A (p.Leu170Ile) | dbSNP |
MT | m.9034C= | CA2499566064 | MT-ATP6 | c.508C= (p.Leu170=) | |
MT | m.9034C>G | CA414801949 | MT-ATP6 | c.508C>G (p.Leu170Val) | |
MT | m.9034C>T | CA414801951 | MT-ATP6 | c.508C>T (p.Leu170Phe) | dbSNP |
MT | m.9035T>A | CA414801954 | MT-ATP6 | c.509T>A (p.Leu170His) | |
MT | m.9035T>C | CA414801955 | MT-ATP6 | c.509T>C (p.Leu170Pro) | ClinVar dbSNP |
MT | m.9035T>G | CA414801957 | MT-ATP6 | c.509T>G (p.Leu170Arg) | |
MT | m.9035T= | CA2499566065 | MT-ATP6 | c.509T= (p.Leu170=) | |
MT | m.9036C>A | CA913181070 | MT-ATP6 | c.510C>A (p.Leu170=) | |
MT | m.9036C= | CA2573320961 | MT-ATP6 | c.510C= (p.Leu170=) | |
MT | m.9036C>G | CA913181069 | MT-ATP6 | c.510C>G (p.Leu170=) | |
MT | m.9036C>T | CA913181068 | MT-ATP6 | c.510C>T (p.Leu170=) | |
MT | m.9037A= | CA2499566066 | MT-ATP6 | c.511A= (p.Met171=) | |
MT | m.9037A>C | CA414801959 | MT-ATP6 | c.511A>C (p.Met171Leu) | |
MT | m.9037A>G | CA414801961 | MT-ATP6 | c.511A>G (p.Met171Val) | dbSNP |
MT | m.9037A>T | CA414801963 | MT-ATP6 | c.511A>T (p.Met171Leu) | |
MT | m.9038T>A | CA414801966 | MT-ATP6 | c.512T>A (p.Met171Lys) | |
MT | m.9038T>C | CA414801969 | MT-ATP6 | c.512T>C (p.Met171Thr) | ClinVar dbSNP |
MT | m.9038T>G | CA414801968 | MT-ATP6 | c.512T>G (p.Met171Arg) | |
MT | m.9038T= | CA2499566067 | MT-ATP6 | c.512T= (p.Met171=) |