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.5951A= | CA2499564642 | MT-CO1 | c.48A= (p.Gly16=) | |
| MT | m.5951A>C | CA913180839 | MT-CO1 | c.48A>C (p.Gly16=) | |
| MT | m.5951A>G | CA10581430 | MT-CO1 | c.48A>G (p.Gly16=) | ClinVar dbSNP |
| MT | m.5951A>T | CA913180838 | MT-CO1 | c.48A>T (p.Gly16=) | |
| MT | m.5952A= | CA2499564643 | MT-CO1 | c.49A= (p.Thr17=) | |
| MT | m.5952A>C | CA414780972 | MT-CO1 | c.49A>C (p.Thr17Pro) | |
| MT | m.5952A>G | CA337097287 | MT-CO1 | c.49A>G (p.Thr17Ala) | dbSNP |
| MT | m.5952A>T | CA414780975 | MT-CO1 | c.49A>T (p.Thr17Ser) | |
| MT | m.5953C>A | CA414780977 | MT-CO1 | c.50C>A (p.Thr17Lys) | |
| MT | m.5953C= | CA2573323223 | MT-CO1 | c.50C= (p.Thr17=) | |
| MT | m.5953C>G | CA414780979 | MT-CO1 | c.50C>G (p.Thr17Arg) | |
| MT | m.5953C>T | CA414780981 | MT-CO1 | c.50C>T (p.Thr17Ile) | |
| MT | m.5953_5954delinsCA | CA2499564644 | MT-CO1 | c.50_51delinsCA (p.Thr17=) | |
| MT | m.5954del | CA891863060 | MT-CO1 | c.51del (p.Leu18TyrfsTer12) | ClinVar dbSNP |
| MT | m.5954A= | CA2499564645 | MT-CO1 | c.51A= (p.Thr17=) | |
| MT | m.5954A>C | CA913180842 | MT-CO1 | c.51A>C (p.Thr17=) | dbSNP |
| MT | m.5954A>G | CA913180841 | MT-CO1 | c.51A>G (p.Thr17=) | |
| MT | m.5954A>T | CA913180840 | MT-CO1 | c.51A>T (p.Thr17=) | |
| MT | m.5955C>A | CA414780983 | MT-CO1 | c.52C>A (p.Leu18Ile) | |
| MT | m.5955C= | CA2573323233 | MT-CO1 | c.52C= (p.Leu18=) | |
| MT | m.5955C>G | CA414780984 | MT-CO1 | c.52C>G (p.Leu18Val) | |
| MT | m.5955C>T | CA913180843 | MT-CO1 | c.52C>T (p.Leu18=) | |
| MT | m.5956T>A | CA414780985 | MT-CO1 | c.53T>A (p.Leu18Gln) | |
| MT | m.5956T>C | CA414780986 | MT-CO1 | c.53T>C (p.Leu18Pro) | |
| MT | m.5956T>G | CA414780987 | MT-CO1 | c.53T>G (p.Leu18Arg) | |
| MT | m.5956T= | CA2573323243 | MT-CO1 | c.53T= (p.Leu18=) | |
| MT | m.5958_5959del | CA2573104812 | MT-CO1 | c.55_56del (p.Tyr19ProfsTer?) | |
| MT | m.5957A= | CA2499564646 | MT-CO1 | c.54A= (p.Leu18=) | |
| MT | m.5957A>C | CA913180845 | MT-CO1 | c.54A>C (p.Leu18=) | |
| MT | m.5957A>G | CA913180844 | MT-CO1 | c.54A>G (p.Leu18=) | |
| MT | m.5957A>T | CA913180846 | MT-CO1 | c.54A>T (p.Leu18=) | dbSNP |
| MT | m.5958T>A | CA414780990 | MT-CO1 | c.55T>A (p.Tyr19Asn) | |
| MT | m.5958T>C | CA414780989 | MT-CO1 | c.55T>C (p.Tyr19His) | |
| MT | m.5958T>G | CA414780988 | MT-CO1 | c.55T>G (p.Tyr19Asp) | |
| MT | m.5958T= | CA2573323257 | MT-CO1 | c.55T= (p.Tyr19=) | |
| MT | m.5959A= | CA2573323259 | MT-CO1 | c.56A= (p.Tyr19=) | |
| MT | m.5959A>C | CA414780993 | MT-CO1 | c.56A>C (p.Tyr19Ser) | |
| MT | m.5959A>G | CA414780995 | MT-CO1 | c.56A>G (p.Tyr19Cys) | |
| MT | m.5959A>T | CA414780996 | MT-CO1 | c.56A>T (p.Tyr19Phe) | |
| MT | m.5960C>A | CA414781000 | MT-CO1 | c.57C>A (p.Tyr19Ter) | |
| MT | m.5960C= | CA2573323265 | MT-CO1 | c.57C= (p.Tyr19=) | |
| MT | m.5960C>G | CA414781001 | MT-CO1 | c.57C>G (p.Tyr19Ter) | |
| MT | m.5960C>T | CA913180850 | MT-CO1 | c.57C>T (p.Tyr19=) | |
| MT | m.5961C>A | CA414781003 | MT-CO1 | c.58C>A (p.Leu20Ile) | ClinVar dbSNP |
| MT | m.5961C= | CA2499564647 | MT-CO1 | c.58C= (p.Leu20=) | |
| MT | m.5961C>G | CA414781005 | MT-CO1 | c.58C>G (p.Leu20Val) | |
| MT | m.5961C>T | CA913180851 | MT-CO1 | c.58C>T (p.Leu20=) | |
| MT | m.5962T>A | CA414781012 | MT-CO1 | c.59T>A (p.Leu20Gln) | |
| MT | m.5962T>C | CA414781013 | MT-CO1 | c.59T>C (p.Leu20Pro) | |
| MT | m.5962T>G | CA414781015 | MT-CO1 | c.59T>G (p.Leu20Arg) | |
| MT | m.5962T= | CA2573323276 | MT-CO1 | c.59T= (p.Leu20=) | |
| MT | m.5963A= | CA2499564648 | MT-CO1 | c.60A= (p.Leu20=) | |
| MT | m.5963A>C | CA913180852 | MT-CO1 | c.60A>C (p.Leu20=) | |
| MT | m.5963A>G | CA913180854 | MT-CO1 | c.60A>G (p.Leu20=) | dbSNP |
| MT | m.5963A>T | CA913180853 | MT-CO1 | c.60A>T (p.Leu20=) | |
| MT | m.5964T>A | CA414781018 | MT-CO1 | c.61T>A (p.Leu21Ile) | dbSNP |
| MT | m.5964T>C | CA913180855 | MT-CO1 | c.61T>C (p.Leu21=) | dbSNP |
| MT | m.5964T>G | CA414781019 | MT-CO1 | c.61T>G (p.Leu21Val) | |
| MT | m.5964T= | CA2499564649 | MT-CO1 | c.61T= (p.Leu21=) | |
| MT | m.5965T>A | CA414781025 | MT-CO1 | c.62T>A (p.Leu21Ter) | |
| MT | m.5965T>C | CA414781022 | MT-CO1 | c.62T>C (p.Leu21Ser) | |
| MT | m.5965T>G | CA414781024 | MT-CO1 | c.62T>G (p.Leu21Ter) | |
| MT | m.5965T= | CA2573323293 | MT-CO1 | c.62T= (p.Leu21=) | |
| MT | m.5966A= | CA2499564650 | MT-CO1 | c.63A= (p.Leu21=) | |
| MT | m.5966A>C | CA414781028 | MT-CO1 | c.63A>C (p.Leu21Phe) | |
| MT | m.5966A>G | CA913180859 | MT-CO1 | c.63A>G (p.Leu21=) | dbSNP |
| MT | m.5966A>T | CA414781030 | MT-CO1 | c.63A>T (p.Leu21Phe) | |
| MT | m.5967T>A | CA414781032 | MT-CO1 | c.64T>A (p.Phe22Ile) | |
| MT | m.5967T>C | CA414781034 | MT-CO1 | c.64T>C (p.Phe22Leu) | |
| MT | m.5967T>G | CA414781035 | MT-CO1 | c.64T>G (p.Phe22Val) | |
| MT | m.5967T= | CA2573323306 | MT-CO1 | c.64T= (p.Phe22=) | |
| MT | m.5968T>A | CA414781037 | MT-CO1 | c.65T>A (p.Phe22Tyr) | |
| MT | m.5968T>C | CA414781038 | MT-CO1 | c.65T>C (p.Phe22Ser) | |
| MT | m.5968T>G | CA414781040 | MT-CO1 | c.65T>G (p.Phe22Cys) | |
| MT | m.5968T= | CA2573323313 | MT-CO1 | c.65T= (p.Phe22=) | |
| MT | m.5969C>A | CA414781042 | MT-CO1 | c.66C>A (p.Phe22Leu) | |
| MT | m.5969C= | CA2499564651 | MT-CO1 | c.66C= (p.Phe22=) | |
| MT | m.5969C>G | CA414781044 | MT-CO1 | c.66C>G (p.Phe22Leu) | |
| MT | m.5969C>T | CA913180860 | MT-CO1 | c.66C>T (p.Phe22=) | dbSNP |
| MT | m.5970G>A | CA414781047 | MT-CO1 | c.67G>A (p.Gly23Ser) | dbSNP |
| MT | m.5970G>C | CA414781049 | MT-CO1 | c.67G>C (p.Gly23Arg) | |
| MT | m.5970G= | CA2499564652 | MT-CO1 | c.67G= (p.Gly23=) | |
| MT | m.5970G>T | CA414781050 | MT-CO1 | c.67G>T (p.Gly23Cys) | |
| MT | m.5971G>A | CA414781053 | MT-CO1 | c.68G>A (p.Gly23Asp) | |
| MT | m.5971G>C | CA414781057 | MT-CO1 | c.68G>C (p.Gly23Ala) | |
| MT | m.5971G= | CA2573323325 | MT-CO1 | c.68G= (p.Gly23=) | |
| MT | m.5971G>T | CA414781055 | MT-CO1 | c.68G>T (p.Gly23Val) | |
| MT | m.5972C>A | CA913180864 | MT-CO1 | c.69C>A (p.Gly23=) | |
| MT | m.5972C= | CA2499564653 | MT-CO1 | c.69C= (p.Gly23=) | |
| MT | m.5972C>G | CA913180863 | MT-CO1 | c.69C>G (p.Gly23=) | |
| MT | m.5972C>T | CA913180862 | MT-CO1 | c.69C>T (p.Gly23=) | dbSNP |
| MT | m.5973G>A | CA414781060 | MT-CO1 | c.70G>A (p.Ala24Thr) | ClinVar dbSNP |
| MT | m.5973G>C | CA414781061 | MT-CO1 | c.70G>C (p.Ala24Pro) | |
| MT | m.5973G= | CA2499564654 | MT-CO1 | c.70G= (p.Ala24=) | |
| MT | m.5973G>T | CA414781063 | MT-CO1 | c.70G>T (p.Ala24Ser) | |
| MT | m.5974C>A | CA414781065 | MT-CO1 | c.71C>A (p.Ala24Glu) | |
| MT | m.5974C= | CA2573323336 | MT-CO1 | c.71C= (p.Ala24=) | |
| MT | m.5974C>G | CA414781067 | MT-CO1 | c.71C>G (p.Ala24Gly) | |
| MT | m.5974C>T | CA414781068 | MT-CO1 | c.71C>T (p.Ala24Val) | |
| MT | m.5975A= | CA2573323337 | MT-CO1 | c.72A= (p.Ala24=) | |
| MT | m.5975A>C | CA913180868 | MT-CO1 | c.72A>C (p.Ala24=) | |
| MT | m.5975A>G | CA913180867 | MT-CO1 | c.72A>G (p.Ala24=) | |
| MT | m.5975A>T | CA913180866 | MT-CO1 | c.72A>T (p.Ala24=) | |
| MT | m.5976T>A | CA414781071 | MT-CO1 | c.73T>A (p.Ter25Arg) | |
| MT | m.5976T>C | CA414781073 | MT-CO1 | c.73T>C (p.Ter25Arg) | |
| MT | m.5976T>G | CA414781075 | MT-CO1 | c.73T>G (p.Ter25Gly) | |
| MT | m.5976T= | CA414781077 | MT-CO1 | c.73T= (p.Ter25=) | |
| MT | m.5977G>A | CA414781080 | MT-CO1 | c.74G>A (p.Ter25=) | |
| MT | m.5977G>C | CA414781084 | MT-CO1 | c.74G>C (p.Ter25Ser) | |
| MT | m.5977G= | CA414781086 | MT-CO1 | c.74G= (p.Ter25=) | |
| MT | m.5977G>T | CA414781082 | MT-CO1 | c.74G>T (p.Ter25Leu) | |
| MT | m.5978A= | CA414781093 | MT-CO1 | c.75A= (p.Ter25=) | |
| MT | m.5978A>C | CA414781088 | MT-CO1 | c.75A>C (p.Ter25Cys) | |
| MT | m.5978A>G | CA337097289 | MT-CO1 | c.75A>G (p.Ter25Trp) | dbSNP |
| MT | m.5978A>T | CA414781091 | MT-CO1 | c.75A>T (p.Ter25Cys) | |
| MT | m.5979G>A | CA414781095 | MT-CO1 | c.76G>A (p.Ala26Thr) | ClinVar dbSNP |
| MT | m.5979G>C | CA414781097 | MT-CO1 | c.76G>C (p.Ala26Pro) | |
| MT | m.5979G= | CA2499564655 | MT-CO1 | c.76G= (p.Ala26=) | |
| MT | m.5979G>T | CA414781099 | MT-CO1 | c.76G>T (p.Ala26Ser) | |
| MT | m.5980C>A | CA414781101 | MT-CO1 | c.77C>A (p.Ala26Asp) | |
| MT | m.5980C= | CA2573323352 | MT-CO1 | c.77C= (p.Ala26=) | |
| MT | m.5980C>G | CA414781102 | MT-CO1 | c.77C>G (p.Ala26Gly) | |
| MT | m.5980C>T | CA414781104 | MT-CO1 | c.77C>T (p.Ala26Val) | |
| MT | m.5981T>A | CA913180873 | MT-CO1 | c.78T>A (p.Ala26=) | |
| MT | m.5981T>C | CA913180871 | MT-CO1 | c.78T>C (p.Ala26=) | dbSNP |
| MT | m.5981T>G | CA913180869 | MT-CO1 | c.78T>G (p.Ala26=) | dbSNP |
| MT | m.5981T= | CA2499564656 | MT-CO1 | c.78T= (p.Ala26=) | |
| MT | m.5982G>A | CA414781107 | MT-CO1 | c.79G>A (p.Gly27Arg) | |
| MT | m.5982G>C | CA414781108 | MT-CO1 | c.79G>C (p.Gly27Arg) | |
| MT | m.5982G= | CA2573323357 | MT-CO1 | c.79G= (p.Gly27=) | |
| MT | m.5982G>T | CA414781109 | MT-CO1 | c.79G>T (p.Gly27Ter) | |
| MT | m.5983del | CA2573104813 | MT-CO1 | c.80del (p.Gly27GlufsTer3) | |
| MT | m.5983G>A | CA414781110 | MT-CO1 | c.80G>A (p.Gly27Glu) | |
| MT | m.5983G>C | CA414781112 | MT-CO1 | c.80G>C (p.Gly27Ala) | |
| MT | m.5983G= | CA2513010193 | MT-CO1 | c.80G= (p.Gly27=) | |
| MT | m.5983G>T | CA414781111 | MT-CO1 | c.80G>T (p.Gly27Val) | |
| MT | m.5983_5984insC | CA2573104814 | MT-CO1 | c.80_81insC (p.Val28SerfsTer23) | |
| MT | m.5984A= | CA2499564657 | MT-CO1 | c.81A= (p.Gly27=) | |
| MT | m.5984A>C | CA913180875 | MT-CO1 | c.81A>C (p.Gly27=) | |
| MT | m.5984A>G | CA337097291 | MT-CO1 | c.81A>G (p.Gly27=) | dbSNP |
| MT | m.5984A>T | CA913180874 | MT-CO1 | c.81A>T (p.Gly27=) | |
| MT | m.5985G>A | CA414781114 | MT-CO1 | c.82G>A (p.Val28Ile) | ClinVar dbSNP |
| MT | m.5985G>C | CA337097293 | MT-CO1 | c.82G>C (p.Val28Leu) | |
| MT | m.5985G= | CA2499564658 | MT-CO1 | c.82G= (p.Val28=) | |
| MT | m.5985G>T | CA337097295 | MT-CO1 | c.82G>T (p.Val28Phe) | |
| MT | m.5986T>A | CA414781118 | MT-CO1 | c.83T>A (p.Val28Asp) | |
| MT | m.5986T>C | CA414781120 | MT-CO1 | c.83T>C (p.Val28Ala) | |
| MT | m.5986T>G | CA414781122 | MT-CO1 | c.83T>G (p.Val28Gly) | |
| MT | m.5986T= | CA2573323374 | MT-CO1 | c.83T= (p.Val28=) | |
| MT | m.5987C>A | CA913180878 | MT-CO1 | c.84C>A (p.Val28=) | dbSNP |
| MT | m.5987C= | CA2499564659 | MT-CO1 | c.84C= (p.Val28=) | |
| MT | m.5987C>G | CA913180879 | MT-CO1 | c.84C>G (p.Val28=) | |
| MT | m.5987C>T | CA913180880 | MT-CO1 | c.84C>T (p.Val28=) | dbSNP |
| MT | m.5988C>A | CA414781124 | MT-CO1 | c.85C>A (p.Leu29Ile) | dbSNP |
| MT | m.5988C= | CA2499564660 | MT-CO1 | c.85C= (p.Leu29=) | |
| MT | m.5988C>G | CA414781126 | MT-CO1 | c.85C>G (p.Leu29Val) | |
| MT | m.5988C>T | CA913180881 | MT-CO1 | c.85C>T (p.Leu29=) | dbSNP |
| MT | m.5989T>A | CA414781133 | MT-CO1 | c.86T>A (p.Leu29Gln) | |
| MT | m.5989T>C | CA414781130 | MT-CO1 | c.86T>C (p.Leu29Pro) | |
| MT | m.5989T>G | CA414781128 | MT-CO1 | c.86T>G (p.Leu29Arg) | |
| MT | m.5989T= | CA2573323383 | MT-CO1 | c.86T= (p.Leu29=) | |
| MT | m.5990A= | CA2499564661 | MT-CO1 | c.87A= (p.Leu29=) | |
| MT | m.5990A>C | CA913180884 | MT-CO1 | c.87A>C (p.Leu29=) | |
| MT | m.5990A>G | CA913180883 | MT-CO1 | c.87A>G (p.Leu29=) | dbSNP |
| MT | m.5990A>T | CA913180882 | MT-CO1 | c.87A>T (p.Leu29=) | |
| MT | m.5991G>A | CA414781135 | MT-CO1 | c.88G>A (p.Gly30Ser) | |
| MT | m.5991G>C | CA414781137 | MT-CO1 | c.88G>C (p.Gly30Arg) | |
| MT | m.5991G= | CA2573323388 | MT-CO1 | c.88G= (p.Gly30=) | |
| MT | m.5991G>T | CA414781139 | MT-CO1 | c.88G>T (p.Gly30Cys) | |
| MT | m.5992G>A | CA414781141 | MT-CO1 | c.89G>A (p.Gly30Asp) | |
| MT | m.5992G>C | CA414781143 | MT-CO1 | c.89G>C (p.Gly30Ala) | |
| MT | m.5992G= | CA2573323393 | MT-CO1 | c.89G= (p.Gly30=) | |
| MT | m.5992G>T | CA414781145 | MT-CO1 | c.89G>T (p.Gly30Val) | |
| MT | m.5993C>A | CA913180886 | MT-CO1 | c.90C>A (p.Gly30=) | dbSNP |
| MT | m.5993C= | CA2499564662 | MT-CO1 | c.90C= (p.Gly30=) | |
| MT | m.5993C>G | CA913180887 | MT-CO1 | c.90C>G (p.Gly30=) | |
| MT | m.5993C>T | CA913180889 | MT-CO1 | c.90C>T (p.Gly30=) | |
| MT | m.5994A= | CA2573323401 | MT-CO1 | c.91A= (p.Thr31=) | |
| MT | m.5994A>C | CA414781147 | MT-CO1 | c.91A>C (p.Thr31Pro) | |
| MT | m.5994A>G | CA414781148 | MT-CO1 | c.91A>G (p.Thr31Ala) | |
| MT | m.5994A>T | CA414781151 | MT-CO1 | c.91A>T (p.Thr31Ser) | |
| MT | m.5995C>A | CA414781153 | MT-CO1 | c.92C>A (p.Thr31Lys) | |
| MT | m.5995C= | CA2499564663 | MT-CO1 | c.92C= (p.Thr31=) | |
| MT | m.5995C>G | CA414781154 | MT-CO1 | c.92C>G (p.Thr31Arg) | |
| MT | m.5995C>T | CA414781156 | MT-CO1 | c.92C>T (p.Thr31Ile) | dbSNP |
| MT | m.5996A= | CA2499564664 | MT-CO1 | c.93A= (p.Thr31=) | |
| MT | m.5996A>C | CA913180891 | MT-CO1 | c.93A>C (p.Thr31=) | |
| MT | m.5996A>G | CA913180892 | MT-CO1 | c.93A>G (p.Thr31=) | dbSNP |
| MT | m.5996A>T | CA913180893 | MT-CO1 | c.93A>T (p.Thr31=) | |
| MT | m.5997G>A | CA414781159 | MT-CO1 | c.94G>A (p.Ala32Thr) | |
| MT | m.5997G>C | CA414781164 | MT-CO1 | c.94G>C (p.Ala32Pro) | |
| MT | m.5997G= | CA2573323409 | MT-CO1 | c.94G= (p.Ala32=) | |
| MT | m.5997G>T | CA414781160 | MT-CO1 | c.94G>T (p.Ala32Ser) | |
| MT | m.5998C>A | CA414781167 | MT-CO1 | c.95C>A (p.Ala32Asp) | |
| MT | m.5998C= | CA2513632486 | MT-CO1 | c.95C= (p.Ala32=) | |
| MT | m.5998C>G | CA414781168 | MT-CO1 | c.95C>G (p.Ala32Gly) | |
| MT | m.5998C>T | CA414781170 | MT-CO1 | c.95C>T (p.Ala32Val) | |
| MT | m.5999T>A | CA913180894 | MT-CO1 | c.96T>A (p.Ala32=) | |
| MT | m.5999T>C | CA337097297 | MT-CO1 | c.96T>C (p.Ala32=) | ClinVar dbSNP |
| MT | m.5999T>G | CA913180895 | MT-CO1 | c.96T>G (p.Ala32=) | |
| MT | m.5999T= | CA2499564665 | MT-CO1 | c.96T= (p.Ala32=) | |
| MT | m.6000C>A | CA414781173 | MT-CO1 | c.97C>A (p.Leu33Ile) | |
| MT | m.6000C= | CA2573323416 | MT-CO1 | c.97C= (p.Leu33=) | |
| MT | m.6000C>G | CA414781175 | MT-CO1 | c.97C>G (p.Leu33Val) | |
| MT | m.6000C>T | CA913180896 | MT-CO1 | c.97C>T (p.Leu33=) | |
| MT | m.6001T>A | CA414781177 | MT-CO1 | c.98T>A (p.Leu33Gln) | |
| MT | m.6001T>C | CA414781179 | MT-CO1 | c.98T>C (p.Leu33Pro) | |
| MT | m.6001T>G | CA414781181 | MT-CO1 | c.98T>G (p.Leu33Arg) | |
| MT | m.6001T= | CA2573323418 | MT-CO1 | c.98T= (p.Leu33=) | |
| MT | m.6002A= | CA2499564666 | MT-CO1 | c.99A= (p.Leu33=) | |
| MT | m.6002A>C | CA913180901 | MT-CO1 | c.99A>C (p.Leu33=) | |
| MT | m.6002A>G | CA913180900 | MT-CO1 | c.99A>G (p.Leu33=) | dbSNP |
| MT | m.6002A>T | CA913180902 | MT-CO1 | c.99A>T (p.Leu33=) | |
| MT | m.6003A= | CA2573323422 | MT-CO1 | c.100A= (p.Ser34=) | |
| MT | m.6003A>C | CA414781186 | MT-CO1 | c.100A>C (p.Ser34Arg) | |
| MT | m.6003A>G | CA414781184 | MT-CO1 | c.100A>G (p.Ser34Gly) | |
| MT | m.6003A>T | CA414781183 | MT-CO1 | c.100A>T (p.Ser34Cys) | |
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6004G>A | CA414781187 | MT-CO1 | c.101G>A (p.Ser34Asn) | |
| MT | m.6004G>C | CA414781191 | MT-CO1 | c.101G>C (p.Ser34Thr) | |
| MT | m.6004G= | CA2573323427 | MT-CO1 | c.101G= (p.Ser34=) | |
| MT | m.6004G>T | CA414781189 | MT-CO1 | c.101G>T (p.Ser34Ile) | |
| MT | m.6005C>A | CA414781192 | MT-CO1 | c.102C>A (p.Ser34Arg) | |
| MT | m.6005C= | CA2499564667 | MT-CO1 | c.102C= (p.Ser34=) | |
| MT | m.6005C>G | CA414781194 | MT-CO1 | c.102C>G (p.Ser34Arg) | |
| MT | m.6005C>T | CA913180906 | MT-CO1 | c.102C>T (p.Ser34=) | dbSNP |
| MT | m.6006C>A | CA414781197 | MT-CO1 | c.103C>A (p.Leu35Ile) | |
| MT | m.6006C= | CA2573323432 | MT-CO1 | c.103C= (p.Leu35=) | |
| MT | m.6006C>G | CA414781198 | MT-CO1 | c.103C>G (p.Leu35Val) | |
| MT | m.6006C>T | CA414781200 | MT-CO1 | c.103C>T (p.Leu35Phe) | |
| MT | m.6007T>A | CA414781202 | MT-CO1 | c.104T>A (p.Leu35His) | |
| MT | m.6007T>C | CA414781204 | MT-CO1 | c.104T>C (p.Leu35Pro) | |
| MT | m.6007T>G | CA414781205 | MT-CO1 | c.104T>G (p.Leu35Arg) | |
| MT | m.6007T= | CA2573323436 | MT-CO1 | c.104T= (p.Leu35=) | |
| MT | m.6008C>A | CA913180907 | MT-CO1 | c.105C>A (p.Leu35=) | |
| MT | m.6008C= | CA2499564668 | MT-CO1 | c.105C= (p.Leu35=) | |
| MT | m.6008C>G | CA913180908 | MT-CO1 | c.105C>G (p.Leu35=) | |
| MT | m.6008C>T | CA913180909 | MT-CO1 | c.105C>T (p.Leu35=) | dbSNP |
| MT | m.6009C>A | CA414781208 | MT-CO1 | c.106C>A (p.Leu36Ile) | |
| MT | m.6009C= | CA2573323440 | MT-CO1 | c.106C= (p.Leu36=) | |
| MT | m.6009C>G | CA414781210 | MT-CO1 | c.106C>G (p.Leu36Val) | |
| MT | m.6009C>T | CA414781212 | MT-CO1 | c.106C>T (p.Leu36Phe) | |
| MT | m.6010T>A | CA414781218 | MT-CO1 | c.107T>A (p.Leu36His) | |
| MT | m.6010T>C | CA414781216 | MT-CO1 | c.107T>C (p.Leu36Pro) | |
| MT | m.6010T>G | CA414781215 | MT-CO1 | c.107T>G (p.Leu36Arg) | |
| MT | m.6010T= | CA2573323443 | MT-CO1 | c.107T= (p.Leu36=) | |
| MT | m.6011T>A | CA913180914 | MT-CO1 | c.108T>A (p.Leu36=) | |
| MT | m.6011T>C | CA913180912 | MT-CO1 | c.108T>C (p.Leu36=) | dbSNP |
| MT | m.6011T>G | CA913180913 | MT-CO1 | c.108T>G (p.Leu36=) | |
| MT | m.6011T= | CA2499564669 | MT-CO1 | c.108T= (p.Leu36=) | |
| MT | m.6012A= | CA2499564670 | MT-CO1 | c.109A= (p.Ile37=) | |
| MT | m.6012A>C | CA414781220 | MT-CO1 | c.109A>C (p.Ile37Leu) | |
| MT | m.6012A>G | CA414781223 | MT-CO1 | c.109A>G (p.Ile37Val) | ClinVar dbSNP |
| MT | m.6012A>T | CA414781225 | MT-CO1 | c.109A>T (p.Ile37Phe) | |
| MT | m.6013T>A | CA414781227 | MT-CO1 | c.110T>A (p.Ile37Asn) | |
| MT | m.6013T>C | CA414781229 | MT-CO1 | c.110T>C (p.Ile37Thr) | |
| MT | m.6013T>G | CA414781231 | MT-CO1 | c.110T>G (p.Ile37Ser) | |
| MT | m.6013T= | CA2573323451 | MT-CO1 | c.110T= (p.Ile37=) | |
| MT | m.6014T>A | CA913180917 | MT-CO1 | c.111T>A (p.Ile37=) | |
| MT | m.6014T>C | CA913180918 | MT-CO1 | c.111T>C (p.Ile37=) | dbSNP |
| MT | m.6014T>G | CA414781233 | MT-CO1 | c.111T>G (p.Ile37Met) | |
| MT | m.6014T= | CA2499564671 | MT-CO1 | c.111T= (p.Ile37=) | |
| MT | m.6015C>A | CA913180919 | MT-CO1 | c.112C>A (p.Arg38=) | |
| MT | m.6015C= | CA2573323460 | MT-CO1 | c.112C= (p.Arg38=) | |
| MT | m.6015C>G | CA414781235 | MT-CO1 | c.112C>G (p.Arg38Gly) | |
| MT | m.6015C>T | CA414781237 | MT-CO1 | c.112C>T (p.Arg38Ter) | |
| MT | m.6016G>A | CA337097299 | MT-CO1 | c.113G>A (p.Arg38Gln) | dbSNP |
| MT | m.6016G>C | CA414781240 | MT-CO1 | c.113G>C (p.Arg38Pro) | |
| MT | m.6016G= | CA2499564672 | MT-CO1 | c.113G= (p.Arg38=) | |
| MT | m.6016G>T | CA414781245 | MT-CO1 | c.113G>T (p.Arg38Leu) | |
| MT | m.6017A= | CA2499564673 | MT-CO1 | c.114A= (p.Arg38=) | |
| MT | m.6017A>C | CA913180923 | MT-CO1 | c.114A>C (p.Arg38=) | |
| MT | m.6017A>G | CA913180922 | MT-CO1 | c.114A>G (p.Arg38=) | dbSNP |
| MT | m.6017A>T | CA913180921 | MT-CO1 | c.114A>T (p.Arg38=) | |
| MT | m.6018G>A | CA414781248 | MT-CO1 | c.115G>A (p.Ala39Thr) | ClinVar dbSNP |
| MT | m.6018G>C | CA414781252 | MT-CO1 | c.115G>C (p.Ala39Pro) | |
| MT | m.6018G= | CA2499564674 | MT-CO1 | c.115G= (p.Ala39=) | |
| MT | m.6018G>T | CA414781250 | MT-CO1 | c.115G>T (p.Ala39Ser) | |
| MT | m.6019C>A | CA414781254 | MT-CO1 | c.116C>A (p.Ala39Asp) | |
| MT | m.6019C= | CA2573323490 | MT-CO1 | c.116C= (p.Ala39=) | |
| MT | m.6019C>G | CA414781256 | MT-CO1 | c.116C>G (p.Ala39Gly) | |
| MT | m.6019C>T | CA414781258 | MT-CO1 | c.116C>T (p.Ala39Val) | |
| MT | m.6020C>A | CA913180926 | MT-CO1 | c.117C>A (p.Ala39=) | |
| MT | m.6020C= | CA2499564675 | MT-CO1 | c.117C= (p.Ala39=) | |
| MT | m.6020C>G | CA913180925 | MT-CO1 | c.117C>G (p.Ala39=) | |
| MT | m.6020C>T | CA913180924 | MT-CO1 | c.117C>T (p.Ala39=) | dbSNP |
| MT | m.6021G>A | CA414781260 | MT-CO1 | c.118G>A (p.Glu40Lys) | |
| MT | m.6021G>C | CA414781261 | MT-CO1 | c.118G>C (p.Glu40Gln) | dbSNP |
| MT | m.6021G= | CA2499564676 | MT-CO1 | c.118G= (p.Glu40=) | |
| MT | m.6021G>T | CA414781263 | MT-CO1 | c.118G>T (p.Glu40Ter) | |
| MT | m.6022A= | CA2513113003 | MT-CO1 | c.119A= (p.Glu40=) | |
| MT | m.6022A>C | CA414781266 | MT-CO1 | c.119A>C (p.Glu40Ala) | |
| MT | m.6022A>G | CA414781267 | MT-CO1 | c.119A>G (p.Glu40Gly) | |
| MT | m.6022A>T | CA414781269 | MT-CO1 | c.119A>T (p.Glu40Val) | |
| MT | m.6023G>A | CA913180929 | MT-CO1 | c.120G>A (p.Glu40=) | dbSNP |
| MT | m.6023G>C | CA414781271 | MT-CO1 | c.120G>C (p.Glu40Asp) | |
| MT | m.6023G= | CA2499564677 | MT-CO1 | c.120G= (p.Glu40=) | |
| MT | m.6023G>T | CA414781273 | MT-CO1 | c.120G>T (p.Glu40Asp) | |
| MT | m.6024C>A | CA414781275 | MT-CO1 | c.121C>A (p.Leu41Met) | |
| MT | m.6024C= | CA2499564678 | MT-CO1 | c.121C= (p.Leu41=) | |
| MT | m.6024C>G | CA414781277 | MT-CO1 | c.121C>G (p.Leu41Val) | |
| MT | m.6024C>T | CA913180930 | MT-CO1 | c.121C>T (p.Leu41=) | dbSNP |
| MT | m.6025T>A | CA414781278 | MT-CO1 | c.122T>A (p.Leu41Gln) | |
| MT | m.6025T>C | CA414781280 | MT-CO1 | c.122T>C (p.Leu41Pro) | |
| MT | m.6025T>G | CA414781282 | MT-CO1 | c.122T>G (p.Leu41Arg) | |
| MT | m.6025T= | CA2573323505 | MT-CO1 | c.122T= (p.Leu41=) | |
| MT | m.6026G>A | CA337097310 | MT-CO1 | c.123G>A (p.Leu41=) | ClinVar dbSNP |
| MT | m.6026G>C | CA913180931 | MT-CO1 | c.123G>C (p.Leu41=) | |
| MT | m.6026G= | CA2499564679 | MT-CO1 | c.123G= (p.Leu41=) | |
| MT | m.6026G>T | CA913180932 | MT-CO1 | c.123G>T (p.Leu41=) | dbSNP |
| MT | m.6027G>A | CA337097311 | MT-CO1 | c.124G>A (p.Gly42Ser) | dbSNP |
| MT | m.6027G>C | CA414781286 | MT-CO1 | c.124G>C (p.Gly42Arg) | |
| MT | m.6027G= | CA2499564680 | MT-CO1 | c.124G= (p.Gly42=) | |
| MT | m.6027G>T | CA414781287 | MT-CO1 | c.124G>T (p.Gly42Cys) | |
| MT | m.6028G>A | CA337097312 | MT-CO1 | c.125G>A (p.Gly42Asp) | dbSNP |
| MT | m.6028G>C | CA414781290 | MT-CO1 | c.125G>C (p.Gly42Ala) | |
| MT | m.6028G= | CA2499564681 | MT-CO1 | c.125G= (p.Gly42=) | |
| MT | m.6028G>T | CA414781292 | MT-CO1 | c.125G>T (p.Gly42Val) | |
| MT | m.6029C>A | CA913180935 | MT-CO1 | c.126C>A (p.Gly42=) | |
| MT | m.6029C= | CA2573323514 | MT-CO1 | c.126C= (p.Gly42=) | |
| MT | m.6029C>G | CA913180936 | MT-CO1 | c.126C>G (p.Gly42=) | |
| MT | m.6029C>T | CA913180937 | MT-CO1 | c.126C>T (p.Gly42=) | |
| MT | m.6030C>A | CA414781296 | MT-CO1 | c.127C>A (p.Gln43Lys) | |
| MT | m.6030C= | CA2573323518 | MT-CO1 | c.127C= (p.Gln43=) | |
| MT | m.6030C>G | CA414781298 | MT-CO1 | c.127C>G (p.Gln43Glu) | |
| MT | m.6030C>T | CA414781294 | MT-CO1 | c.127C>T (p.Gln43Ter) | |
| MT | m.6031A= | CA2573323521 | MT-CO1 | c.128A= (p.Gln43=) | |
| MT | m.6031A>C | CA414781304 | MT-CO1 | c.128A>C (p.Gln43Pro) | |
| MT | m.6031A>G | CA414781301 | MT-CO1 | c.128A>G (p.Gln43Arg) | |
| MT | m.6031A>T | CA414781303 | MT-CO1 | c.128A>T (p.Gln43Leu) | |
| MT | m.6032G>A | CA337097313 | MT-CO1 | c.129G>A (p.Gln43=) | dbSNP |
| MT | m.6032G>C | CA414781308 | MT-CO1 | c.129G>C (p.Gln43His) | |
| MT | m.6032G= | CA2499564682 | MT-CO1 | c.129G= (p.Gln43=) | |
| MT | m.6032G>T | CA414781309 | MT-CO1 | c.129G>T (p.Gln43His) | |
| MT | m.6033C>A | CA414781312 | MT-CO1 | c.130C>A (p.Pro44Thr) | |
| MT | m.6033C= | CA2573323528 | MT-CO1 | c.130C= (p.Pro44=) | |
| MT | m.6033C>G | CA414781313 | MT-CO1 | c.130C>G (p.Pro44Ala) | |
| MT | m.6033C>T | CA414781315 | MT-CO1 | c.130C>T (p.Pro44Ser) | |
| MT | m.6034C>A | CA414781318 | MT-CO1 | c.131C>A (p.Pro44Gln) | |
| MT | m.6034C= | CA2573323531 | MT-CO1 | c.131C= (p.Pro44=) | |
| MT | m.6034C>G | CA414781319 | MT-CO1 | c.131C>G (p.Pro44Arg) | |
| MT | m.6034C>T | CA414781321 | MT-CO1 | c.131C>T (p.Pro44Leu) | |
| MT | m.6035A= | CA2573323535 | MT-CO1 | c.132A= (p.Pro44=) | |
| MT | m.6035A>C | CA913180940 | MT-CO1 | c.132A>C (p.Pro44=) | |
| MT | m.6035A>G | CA913180939 | MT-CO1 | c.132A>G (p.Pro44=) | |
| MT | m.6035A>T | CA913180941 | MT-CO1 | c.132A>T (p.Pro44=) | |
| MT | m.6036G>A | CA414781327 | MT-CO1 | c.133G>A (p.Gly45Ser) | |
| MT | m.6036G>C | CA414781324 | MT-CO1 | c.133G>C (p.Gly45Arg) | |
| MT | m.6036G= | CA2573323538 | MT-CO1 | c.133G= (p.Gly45=) | |
| MT | m.6036G>T | CA414781325 | MT-CO1 | c.133G>T (p.Gly45Cys) | |
| MT | m.6037G>A | CA414781330 | MT-CO1 | c.134G>A (p.Gly45Asp) | ClinVar dbSNP |
| MT | m.6037G>C | CA414781331 | MT-CO1 | c.134G>C (p.Gly45Ala) | |
| MT | m.6037G= | CA2499564683 | MT-CO1 | c.134G= (p.Gly45=) | |
| MT | m.6037G>T | CA414781333 | MT-CO1 | c.134G>T (p.Gly45Val) | |
| MT | m.6038C>A | CA913180942 | MT-CO1 | c.135C>A (p.Gly45=) | |
| MT | m.6038C= | CA2573323543 | MT-CO1 | c.135C= (p.Gly45=) | |
| MT | m.6038C>G | CA913180944 | MT-CO1 | c.135C>G (p.Gly45=) | |
| MT | m.6038C>T | CA913180945 | MT-CO1 | c.135C>T (p.Gly45=) | dbSNP |
| MT | m.6039A= | CA2573323545 | MT-CO1 | c.136A= (p.Asn46=) | |
| MT | m.6039A>C | CA414781336 | MT-CO1 | c.136A>C (p.Asn46His) | |
| MT | m.6039A>G | CA414781338 | MT-CO1 | c.136A>G (p.Asn46Asp) | |
| MT | m.6039A>T | CA414781340 | MT-CO1 | c.136A>T (p.Asn46Tyr) | |
| MT | m.6040A= | CA2499564684 | MT-CO1 | c.137A= (p.Asn46=) | |
| MT | m.6040A>C | CA414781342 | MT-CO1 | c.137A>C (p.Asn46Thr) | |
| MT | m.6040A>G | CA414781344 | MT-CO1 | c.137A>G (p.Asn46Ser) | ClinVar dbSNP |
| MT | m.6040A>T | CA414781346 | MT-CO1 | c.137A>T (p.Asn46Ile) | |
| MT | m.6041C>A | CA414781348 | MT-CO1 | c.138C>A (p.Asn46Lys) | |
| MT | m.6041C= | CA2573323554 | MT-CO1 | c.138C= (p.Asn46=) | |
| MT | m.6041C>G | CA414781350 | MT-CO1 | c.138C>G (p.Asn46Lys) | |
| MT | m.6041C>T | CA913180948 | MT-CO1 | c.138C>T (p.Asn46=) | |
| MT | m.6042C>A | CA414781353 | MT-CO1 | c.139C>A (p.Leu47Ile) | |
| MT | m.6042C= | CA2499564685 | MT-CO1 | c.139C= (p.Leu47=) | |
| MT | m.6042C>G | CA414781355 | MT-CO1 | c.139C>G (p.Leu47Val) | |
| MT | m.6042C>T | CA337097315 | MT-CO1 | c.139C>T (p.Leu47Phe) | dbSNP |
| MT | m.6043T>A | CA414781357 | MT-CO1 | c.140T>A (p.Leu47His) | |
| MT | m.6043T>C | CA414781359 | MT-CO1 | c.140T>C (p.Leu47Pro) | |
| MT | m.6043T>G | CA414781361 | MT-CO1 | c.140T>G (p.Leu47Arg) | |
| MT | m.6043T= | CA2573323558 | MT-CO1 | c.140T= (p.Leu47=) | |
| MT | m.6044T>A | CA913180950 | MT-CO1 | c.141T>A (p.Leu47=) | |
| MT | m.6044T>C | CA913180951 | MT-CO1 | c.141T>C (p.Leu47=) | dbSNP |
| MT | m.6044T>G | CA913180952 | MT-CO1 | c.141T>G (p.Leu47=) | |
| MT | m.6044T= | CA2499564686 | MT-CO1 | c.141T= (p.Leu47=) | |
| MT | m.6045C>A | CA337097317 | MT-CO1 | c.142C>A (p.Leu48Ile) | |
| MT | m.6045C= | CA2499564687 | MT-CO1 | c.142C= (p.Leu48=) | |
| MT | m.6045C>G | CA337097319 | MT-CO1 | c.142C>G (p.Leu48Val) | |
| MT | m.6045C>T | CA337097322 | MT-CO1 | c.142C>T (p.Leu48=) | dbSNP |
| MT | m.6046T>A | CA414781367 | MT-CO1 | c.143T>A (p.Leu48Gln) | |
| MT | m.6046T>C | CA414781370 | MT-CO1 | c.143T>C (p.Leu48Pro) | |
| MT | m.6046T>G | CA414781369 | MT-CO1 | c.143T>G (p.Leu48Arg) | |
| MT | m.6046T= | CA2499564688 | MT-CO1 | c.143T= (p.Leu48=) | |
| MT | m.6047A= | CA2499564689 | MT-CO1 | c.144A= (p.Leu48=) | |
| MT | m.6047A>C | CA913180954 | MT-CO1 | c.144A>C (p.Leu48=) | |
| MT | m.6047A>G | CA337097324 | MT-CO1 | c.144A>G (p.Leu48=) | ClinVar dbSNP |
| MT | m.6047A>T | CA913180953 | MT-CO1 | c.144A>T (p.Leu48=) | |
| MT | m.6047_6049dup | CA920599437 | MT-CO1 | c.144_146dup (p.Gly49_Asn50insGly) | dbSNP |
| MT | m.6048G>A | CA414781374 | MT-CO1 | c.145G>A (p.Gly49Ser) | ClinVar dbSNP |
| MT | m.6048G>C | CA414781375 | MT-CO1 | c.145G>C (p.Gly49Arg) | |
| MT | m.6048G= | CA2499564690 | MT-CO1 | c.145G= (p.Gly49=) | |
| MT | m.6048G>T | CA414781376 | MT-CO1 | c.145G>T (p.Gly49Cys) | |
| MT | m.6049G>A | CA414781379 | MT-CO1 | c.146G>A (p.Gly49Asp) | |
| MT | m.6049G>C | CA414781383 | MT-CO1 | c.146G>C (p.Gly49Ala) | |
| MT | m.6049G= | CA2573323575 | MT-CO1 | c.146G= (p.Gly49=) | |
| MT | m.6049G>T | CA414781381 | MT-CO1 | c.146G>T (p.Gly49Val) | |
| MT | m.6050T>A | CA913180955 | MT-CO1 | c.147T>A (p.Gly49=) | |
| MT | m.6050T>C | CA913180956 | MT-CO1 | c.147T>C (p.Gly49=) | dbSNP |
| MT | m.6050T>G | CA913180957 | MT-CO1 | c.147T>G (p.Gly49=) | |
| MT | m.6050T= | CA2499564691 | MT-CO1 | c.147T= (p.Gly49=) | |
| MT | m.6051A= | CA2573323579 | MT-CO1 | c.148A= (p.Asn50=) | |
| MT | m.6051A>C | CA414781385 | MT-CO1 | c.148A>C (p.Asn50His) | |
| MT | m.6051A>G | CA414781387 | MT-CO1 | c.148A>G (p.Asn50Asp) | |
| MT | m.6051A>T | CA414781389 | MT-CO1 | c.148A>T (p.Asn50Tyr) |