UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8688_8778del | CA2573105022 | MT-ATP6 | c.162_252del (p.Lys55SerfsTer16) | |
| 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=) | |
| MT | m.8803A= | CA2499565906 | MT-ATP6 | c.277A= (p.Thr93=) | |
| MT | m.8803A>C | CA414798177 | MT-ATP6 | c.277A>C (p.Thr93Pro) | |
| MT | m.8803A>G | CA414798179 | MT-ATP6 | c.277A>G (p.Thr93Ala) | ClinVar dbSNP |
| MT | m.8803A>T | CA10581289 | MT-ATP6 | c.277A>T (p.Thr93Ser) | ClinVar dbSNP |
| MT | m.8804C>A | CA414798182 | MT-ATP6 | c.278C>A (p.Thr93Lys) | |
| MT | m.8804C= | CA2499565907 | MT-ATP6 | c.278C= (p.Thr93=) | |
| MT | m.8804C>G | CA414798184 | MT-ATP6 | c.278C>G (p.Thr93Arg) | |
| MT | m.8804C>T | CA414798187 | MT-ATP6 | c.278C>T (p.Thr93Ile) | dbSNP |
| MT | m.8805A= | CA2499565908 | MT-ATP6 | c.279A= (p.Thr93=) | |
| MT | m.8805A>C | CA913180210 | MT-ATP6 | c.279A>C (p.Thr93=) | |
| MT | m.8805A>G | CA913180208 | MT-ATP6 | c.279A>G (p.Thr93=) | dbSNP |
| MT | m.8805A>T | CA913180206 | MT-ATP6 | c.279A>T (p.Thr93=) | |
| MT | m.8806C>A | CA414798191 | MT-ATP6 | c.280C>A (p.Pro94Thr) | |
| MT | m.8806C= | CA2499565909 | MT-ATP6 | c.280C= (p.Pro94=) | |
| MT | m.8806C>G | CA414798192 | MT-ATP6 | c.280C>G (p.Pro94Ala) | |
| MT | m.8806C>T | CA414798195 | MT-ATP6 | c.280C>T (p.Pro94Ser) | ClinVar dbSNP |
| MT | m.8807C>A | CA414798199 | MT-ATP6 | c.281C>A (p.Pro94Gln) | |
| MT | m.8807C= | CA2573330165 | MT-ATP6 | c.281C= (p.Pro94=) | |
| MT | m.8807C>G | CA414798202 | MT-ATP6 | c.281C>G (p.Pro94Arg) | |
| MT | m.8807C>T | CA414798201 | MT-ATP6 | c.281C>T (p.Pro94Leu) | |
| MT | m.8808A= | CA2573330166 | MT-ATP6 | c.282A= (p.Pro94=) | |
| MT | m.8808A>C | CA913180241 | MT-ATP6 | c.282A>C (p.Pro94=) | dbSNP |
| MT | m.8808A>G | CA913180237 | MT-ATP6 | c.282A>G (p.Pro94=) | |
| MT | m.8808A>T | CA913180227 | MT-ATP6 | c.282A>T (p.Pro94=) | |
| MT | m.8809A= | CA2573330167 | MT-ATP6 | c.283A= (p.Thr95=) | |
| MT | m.8809A>C | CA414798207 | MT-ATP6 | c.283A>C (p.Thr95Pro) | |
| MT | m.8809A>G | CA414798210 | MT-ATP6 | c.283A>G (p.Thr95Ala) | |
| MT | m.8809A>T | CA414798212 | MT-ATP6 | c.283A>T (p.Thr95Ser) | |
| MT | m.8810C>A | CA414798217 | MT-ATP6 | c.284C>A (p.Thr95Asn) | |
| MT | m.8810C= | CA2573330170 | MT-ATP6 | c.284C= (p.Thr95=) | |
| MT | m.8810C>G | CA414798218 | MT-ATP6 | c.284C>G (p.Thr95Ser) | |
| MT | m.8810C>T | CA414798221 | MT-ATP6 | c.284C>T (p.Thr95Ile) | |
| MT | m.8811C>A | CA913180260 | MT-ATP6 | c.285C>A (p.Thr95=) | |
| MT | m.8811C= | CA2573330172 | MT-ATP6 | c.285C= (p.Thr95=) | |
| MT | m.8811C>G | CA913180258 | MT-ATP6 | c.285C>G (p.Thr95=) | |
| MT | m.8811C>T | CA913180255 | MT-ATP6 | c.285C>T (p.Thr95=) | |
| MT | m.8812A= | CA2499565910 | MT-ATP6 | c.286A= (p.Thr96=) | |
| MT | m.8812A>C | CA414798225 | MT-ATP6 | c.286A>C (p.Thr96Pro) | |
| MT | m.8812A>G | CA414798227 | MT-ATP6 | c.286A>G (p.Thr96Ala) | ClinVar dbSNP |
| MT | m.8812A>T | CA414798230 | MT-ATP6 | c.286A>T (p.Thr96Ser) | ClinVar dbSNP |
| MT | m.8813C>A | CA414798234 | MT-ATP6 | c.287C>A (p.Thr96Asn) | |
| MT | m.8813C= | CA2573330176 | MT-ATP6 | c.287C= (p.Thr96=) | |
| MT | m.8813C>G | CA414798236 | MT-ATP6 | c.287C>G (p.Thr96Ser) | |
| MT | m.8813C>T | CA414798239 | MT-ATP6 | c.287C>T (p.Thr96Ile) | |
| MT | m.8814C>A | CA913180280 | MT-ATP6 | c.288C>A (p.Thr96=) | |
| MT | m.8814C= | CA2499565911 | MT-ATP6 | c.288C= (p.Thr96=) | |
| MT | m.8814C>G | CA913180279 | MT-ATP6 | c.288C>G (p.Thr96=) | |
| MT | m.8814C>T | CA913180278 | MT-ATP6 | c.288C>T (p.Thr96=) | dbSNP |
| MT | m.8815C>A | CA414798242 | MT-ATP6 | c.289C>A (p.Gln97Lys) | |
| MT | m.8815C= | CA2573330179 | MT-ATP6 | c.289C= (p.Gln97=) | |
| MT | m.8815C>G | CA414798248 | MT-ATP6 | c.289C>G (p.Gln97Glu) | |
| MT | m.8815C>T | CA414798245 | MT-ATP6 | c.289C>T (p.Gln97Ter) | |
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8816A= | CA2499565912 | MT-ATP6 | c.290A= (p.Gln97=) | |
| MT | m.8816A>C | CA414798251 | MT-ATP6 | c.290A>C (p.Gln97Pro) | |
| MT | m.8816A>G | CA16603225 | MT-ATP6 | c.290A>G (p.Gln97Arg) | ClinVar dbSNP |
| MT | m.8816A>T | CA414798255 | MT-ATP6 | c.290A>T (p.Gln97Leu) | |
| MT | m.8817A= | CA2499565913 | MT-ATP6 | c.291A= (p.Gln97=) | |
| MT | m.8817A>C | CA414798259 | MT-ATP6 | c.291A>C (p.Gln97His) | |
| MT | m.8817A>G | CA337098038 | MT-ATP6 | c.291A>G (p.Gln97=) | dbSNP |
| MT | m.8817A>T | CA414798263 | MT-ATP6 | c.291A>T (p.Gln97His) | |
| MT | m.8818C>A | CA414798265 | MT-ATP6 | c.292C>A (p.Leu98Ile) | |
| MT | m.8818C= | CA2499565914 | MT-ATP6 | c.292C= (p.Leu98=) | |
| MT | m.8818C>G | CA414798268 | MT-ATP6 | c.292C>G (p.Leu98Val) | |
| MT | m.8818C>T | CA10581406 | MT-ATP6 | c.292C>T (p.Leu98=) | ClinVar dbSNP |
| MT | m.8819T>A | CA414798280 | MT-ATP6 | c.293T>A (p.Leu98Gln) | |
| MT | m.8819T>C | CA414798276 | MT-ATP6 | c.293T>C (p.Leu98Pro) | |
| MT | m.8819T>G | CA414798275 | MT-ATP6 | c.293T>G (p.Leu98Arg) | |
| MT | m.8819T= | CA2573330183 | MT-ATP6 | c.293T= (p.Leu98=) | |
| MT | m.8820A= | CA2573330185 | MT-ATP6 | c.294A= (p.Leu98=) | |
| MT | m.8820A>C | CA913180327 | MT-ATP6 | c.294A>C (p.Leu98=) | |
| MT | m.8820A>G | CA913180326 | MT-ATP6 | c.294A>G (p.Leu98=) | |
| MT | m.8820A>T | CA913180324 | MT-ATP6 | c.294A>T (p.Leu98=) | |
| MT | m.8821T>A | CA414798284 | MT-ATP6 | c.295T>A (p.Ser99Thr) | ClinVar dbSNP |
| MT | m.8821T>C | CA414798289 | MT-ATP6 | c.295T>C (p.Ser99Pro) | ClinVar dbSNP |
| MT | m.8821T>G | CA414798285 | MT-ATP6 | c.295T>G (p.Ser99Ala) | dbSNP |
| MT | m.8821T= | CA2499565915 | MT-ATP6 | c.295T= (p.Ser99=) | |
| MT | m.8822C>A | CA414798292 | MT-ATP6 | c.296C>A (p.Ser99Tyr) | |
| MT | m.8822C= | CA2499565916 | MT-ATP6 | c.296C= (p.Ser99=) | |
| MT | m.8822C>G | CA414798294 | MT-ATP6 | c.296C>G (p.Ser99Cys) | |
| MT | m.8822C>T | CA414798297 | MT-ATP6 | c.296C>T (p.Ser99Phe) | dbSNP COSMIC COSMIC |
| MT | m.8823T>A | CA913180351 | MT-ATP6 | c.297T>A (p.Ser99=) | |
| MT | m.8823T>C | CA913180349 | MT-ATP6 | c.297T>C (p.Ser99=) | dbSNP |
| MT | m.8823T>G | CA913180345 | MT-ATP6 | c.297T>G (p.Ser99=) | |
| MT | m.8823T= | CA2499565917 | MT-ATP6 | c.297T= (p.Ser99=) | |
| MT | m.8824A= | CA2499565918 | MT-ATP6 | c.298A= (p.Ile100=) | |
| MT | m.8824A>C | CA414798300 | MT-ATP6 | c.298A>C (p.Ile100Leu) | |
| MT | m.8824A>G | CA414798303 | MT-ATP6 | c.298A>G (p.Ile100Val) | ClinVar dbSNP |
| MT | m.8824A>T | CA414798305 | MT-ATP6 | c.298A>T (p.Ile100Leu) | |
| MT | m.8825_8828del | CA2740098160 | MT-ATP6 | c.299_302del (p.Ile100ThrfsTer2) | |
| MT | m.8825T>A | CA414798309 | MT-ATP6 | c.299T>A (p.Ile100Lys) | |
| MT | m.8825T>C | CA414798310 | MT-ATP6 | c.299T>C (p.Ile100Thr) | ClinVar dbSNP |
| MT | m.8825T>G | CA414798314 | MT-ATP6 | c.299T>G (p.Ile100Arg) | |
| MT | m.8825T= | CA2499565919 | MT-ATP6 | c.299T= (p.Ile100=) | |
| MT | m.8826A= | CA2573330188 | MT-ATP6 | c.300A= (p.Ile100=) | |
| MT | m.8826A>C | CA913180371 | MT-ATP6 | c.300A>C (p.Ile100=) | |
| MT | m.8826A>G | CA414798316 | MT-ATP6 | c.300A>G (p.Ile100Met) | |
| MT | m.8826A>T | CA913180369 | MT-ATP6 | c.300A>T (p.Ile100=) | |
| MT | m.8827A= | CA2573330191 | MT-ATP6 | c.301A= (p.Asn101=) | |
| MT | m.8827A>C | CA414798326 | MT-ATP6 | c.301A>C (p.Asn101His) | |
| MT | m.8827A>G | CA414798323 | MT-ATP6 | c.301A>G (p.Asn101Asp) | |
| MT | m.8827A>T | CA414798320 | MT-ATP6 | c.301A>T (p.Asn101Tyr) | |
| MT | m.8827_8828insTC | CA2740098161 | MT-ATP6 | c.301_302insTC (p.Asn101IlefsTer3) | |
| MT | m.8828A= | CA2573330193 | MT-ATP6 | c.302A= (p.Asn101=) | |
| MT | m.8828A>C | CA414798329 | MT-ATP6 | c.302A>C (p.Asn101Thr) | |
| MT | m.8828A>G | CA414798332 | MT-ATP6 | c.302A>G (p.Asn101Ser) | |
| MT | m.8828A>T | CA414798335 | MT-ATP6 | c.302A>T (p.Asn101Ile) | |
| MT | m.8829C>A | CA414798337 | MT-ATP6 | c.303C>A (p.Asn101Lys) | |
| MT | m.8829C= | CA2499565920 | MT-ATP6 | c.303C= (p.Asn101=) | |
| MT | m.8829C>G | CA414798340 | MT-ATP6 | c.303C>G (p.Asn101Lys) | |
| MT | m.8829C>T | CA337098043 | MT-ATP6 | c.303C>T (p.Asn101=) | dbSNP |
| MT | m.8829_8830insTGCGCCCG | CA2740098162 | MT-ATP6 | c.303_304insTGCGCCCG (p.Leu102CysfsTer4) | |
| MT | m.8830C>A | CA414798345 | MT-ATP6 | c.304C>A (p.Leu102Ile) | |
| MT | m.8830C= | CA2499565921 | MT-ATP6 | c.304C= (p.Leu102=) | |
| MT | m.8830C>G | CA414798348 | MT-ATP6 | c.304C>G (p.Leu102Val) | |
| MT | m.8830C>T | CA913180389 | MT-ATP6 | c.304C>T (p.Leu102=) | dbSNP |
| MT | m.8831T>A | CA414798353 | MT-ATP6 | c.305T>A (p.Leu102Gln) | |
| MT | m.8831T>C | CA414798354 | MT-ATP6 | c.305T>C (p.Leu102Pro) | |
| MT | m.8831T>G | CA414798358 | MT-ATP6 | c.305T>G (p.Leu102Arg) | |
| MT | m.8831T= | CA2573330198 | MT-ATP6 | c.305T= (p.Leu102=) | |
| MT | m.8832A= | CA2499565922 | MT-ATP6 | c.306A= (p.Leu102=) | |
| MT | m.8832A>C | CA913180412 | MT-ATP6 | c.306A>C (p.Leu102=) | |
| MT | m.8832A>G | CA913180409 | MT-ATP6 | c.306A>G (p.Leu102=) | dbSNP |
| MT | m.8832A>T | CA913180404 | MT-ATP6 | c.306A>T (p.Leu102=) | |
| MT | m.8833G>A | CA414798367 | MT-ATP6 | c.307G>A (p.Ala103Thr) | |
| MT | m.8833G>C | CA414798364 | MT-ATP6 | c.307G>C (p.Ala103Pro) | |
| MT | m.8833G= | CA2573330200 | MT-ATP6 | c.307G= (p.Ala103=) | |
| MT | m.8833G>T | CA414798361 | MT-ATP6 | c.307G>T (p.Ala103Ser) | |
| MT | m.8834C>A | CA414798370 | MT-ATP6 | c.308C>A (p.Ala103Asp) | |
| MT | m.8834C= | CA2573330201 | MT-ATP6 | c.308C= (p.Ala103=) | |
| MT | m.8834C>G | CA414798371 | MT-ATP6 | c.308C>G (p.Ala103Gly) | |
| MT | m.8834C>T | CA414798375 | MT-ATP6 | c.308C>T (p.Ala103Val) | |
| MT | m.8835C>A | CA337098046 | MT-ATP6 | c.309C>A (p.Ala103=) | |
| MT | m.8835C= | CA2499565923 | MT-ATP6 | c.309C= (p.Ala103=) | |
| MT | m.8835C>G | CA337098049 | MT-ATP6 | c.309C>G (p.Ala103=) | |
| MT | m.8835C>T | CA913180422 | MT-ATP6 | c.309C>T (p.Ala103=) | dbSNP |
| MT | m.8836A= | CA2499565924 | MT-ATP6 | c.310A= (p.Met104=) | |
| MT | m.8836A>C | CA414798382 | MT-ATP6 | c.310A>C (p.Met104Leu) | |
| MT | m.8836A>G | CA414798383 | MT-ATP6 | c.310A>G (p.Met104Val) | ClinVar dbSNP |
| MT | m.8836A>T | CA414798385 | MT-ATP6 | c.310A>T (p.Met104Leu) | |
| MT | m.8837T>A | CA414798389 | MT-ATP6 | c.311T>A (p.Met104Lys) | |
| MT | m.8837T>C | CA414798392 | MT-ATP6 | c.311T>C (p.Met104Thr) | |
| MT | m.8837T>G | CA414798394 | MT-ATP6 | c.311T>G (p.Met104Arg) | |
| MT | m.8837T= | CA2573330202 | MT-ATP6 | c.311T= (p.Met104=) | |
| MT | m.8838G>A | CA414798404 | MT-ATP6 | c.312G>A (p.Met104Ile) | dbSNP |
| MT | m.8838G>C | CA414798402 | MT-ATP6 | c.312G>C (p.Met104Ile) | |
| MT | m.8838G= | CA2499565925 | MT-ATP6 | c.312G= (p.Met104=) | |
| MT | m.8838G>T | CA414798399 | MT-ATP6 | c.312G>T (p.Met104Ile) | |
| MT | m.8839G>A | CA337098053 | MT-ATP6 | c.313G>A (p.Ala105Thr) | ClinVar dbSNP |
| MT | m.8839G>C | CA345921 | MT-ATP6 | c.313G>C (p.Ala105Pro) | ClinVar dbSNP |
| MT | m.8839G= | CA2499565926 | MT-ATP6 | c.313G= (p.Ala105=) | |
| MT | m.8839G>T | CA414798410 | MT-ATP6 | c.313G>T (p.Ala105Ser) | |
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.8840C>A | CA414798414 | MT-ATP6 | c.314C>A (p.Ala105Asp) | |
| MT | m.8840C= | CA2499565927 | MT-ATP6 | c.314C= (p.Ala105=) | |
| MT | m.8840C>G | CA414798416 | MT-ATP6 | c.314C>G (p.Ala105Gly) | |
| MT | m.8840C>T | CA414798419 | MT-ATP6 | c.314C>T (p.Ala105Val) | ClinVar dbSNP |
| MT | m.8841C>A | CA913180470 | MT-ATP6 | c.315C>A (p.Ala105=) | |
| MT | m.8841C= | CA2499565928 | MT-ATP6 | c.315C= (p.Ala105=) | |
| MT | m.8841C>G | CA913180468 | MT-ATP6 | c.315C>G (p.Ala105=) | |
| MT | m.8841C>T | CA913180464 | MT-ATP6 | c.315C>T (p.Ala105=) | dbSNP |
| MT | m.8842A= | CA2499565929 | MT-ATP6 | c.316A= (p.Ile106=) | |
| MT | m.8842A>C | CA414798422 | MT-ATP6 | c.316A>C (p.Ile106Leu) | ClinVar dbSNP |
| MT | m.8842A>G | CA414798424 | MT-ATP6 | c.316A>G (p.Ile106Val) | ClinVar dbSNP |
| MT | m.8842A>T | CA337098056 | MT-ATP6 | c.316A>T (p.Ile106Phe) | dbSNP |
| MT | m.8843T>A | CA414798430 | MT-ATP6 | c.317T>A (p.Ile106Asn) | |
| MT | m.8843T>C | CA337098062 | MT-ATP6 | c.317T>C (p.Ile106Thr) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.8843T>G | CA414798433 | MT-ATP6 | c.317T>G (p.Ile106Ser) | |
| MT | m.8843T= | CA2499565930 | MT-ATP6 | c.317T= (p.Ile106=) | |
| MT | m.8844C>A | CA913180481 | MT-ATP6 | c.318C>A (p.Ile106=) | ClinVar dbSNP |
| MT | m.8844C= | CA2499565931 | MT-ATP6 | c.318C= (p.Ile106=) | |
| MT | m.8844C>G | CA414798436 | MT-ATP6 | c.318C>G (p.Ile106Met) | |
| MT | m.8844C>T | CA913180480 | MT-ATP6 | c.318C>T (p.Ile106=) | dbSNP |
| MT | m.8845C>A | CA414798443 | MT-ATP6 | c.319C>A (p.Pro107Thr) | |
| MT | m.8845C= | CA2573330260 | MT-ATP6 | c.319C= (p.Pro107=) | |
| MT | m.8845C>G | CA414798441 | MT-ATP6 | c.319C>G (p.Pro107Ala) | |
| MT | m.8845C>T | CA414798446 | MT-ATP6 | c.319C>T (p.Pro107Ser) | |
| MT | m.8846C>A | CA414798449 | MT-ATP6 | c.320C>A (p.Pro107His) | |
| MT | m.8846C= | CA2573330269 | MT-ATP6 | c.320C= (p.Pro107=) | |
| MT | m.8846C>G | CA414798453 | MT-ATP6 | c.320C>G (p.Pro107Arg) | |
| MT | m.8846C>T | CA414798450 | MT-ATP6 | c.320C>T (p.Pro107Leu) | |
| MT | m.8847C>A | CA913180502 | MT-ATP6 | c.321C>A (p.Pro107=) | |
| MT | m.8847C= | CA2499565932 | MT-ATP6 | c.321C= (p.Pro107=) | |
| MT | m.8847C>G | CA913180499 | MT-ATP6 | c.321C>G (p.Pro107=) | |
| MT | m.8847C>T | CA913180497 | MT-ATP6 | c.321C>T (p.Pro107=) | dbSNP |
| MT | m.8848T>A | CA414798457 | MT-ATP6 | c.322T>A (p.Leu108Ile) | |
| MT | m.8848T>C | CA913180503 | MT-ATP6 | c.322T>C (p.Leu108=) | dbSNP |
| MT | m.8848T>G | CA414798459 | MT-ATP6 | c.322T>G (p.Leu108Val) | |
| MT | m.8848T= | CA2499565933 | MT-ATP6 | c.322T= (p.Leu108=) | |
| MT | m.8849T>A | CA414798462 | MT-ATP6 | c.323T>A (p.Leu108Ter) | |
| MT | m.8849T>C | CA414798466 | MT-ATP6 | c.323T>C (p.Leu108Ser) | |
| MT | m.8849T>G | CA414798468 | MT-ATP6 | c.323T>G (p.Leu108Ter) | |
| MT | m.8849T= | CA2573330284 | MT-ATP6 | c.323T= (p.Leu108=) | |
| MT | m.8850A= | CA2499565934 | MT-ATP6 | c.324A= (p.Leu108=) | |
| MT | m.8850A>C | CA414798472 | MT-ATP6 | c.324A>C (p.Leu108Phe) | |
| MT | m.8850A>G | CA913180511 | MT-ATP6 | c.324A>G (p.Leu108=) | dbSNP |
| MT | m.8850A>T | CA414798473 | MT-ATP6 | c.324A>T (p.Leu108Phe) | |
| MT | m.8851T>A | CA414798477 | MT-ATP6 | c.325T>A (p.Ter109Arg) | |
| MT | m.8851T>C | CA120598 | MT-ATP6 | c.325T>C (p.Ter109Arg) | ClinVar dbSNP |
| MT | m.8851T>G | CA414798481 | MT-ATP6 | c.325T>G (p.Ter109Gly) | |
| MT | m.8851T= | CA414798483 | MT-ATP6 | c.325T= (p.Ter109=) |