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.5836_5917dup | CA2573104511 | |||
| MT | m.5908T>A | CA414780758 | MT-CO1 | c.5T>A (p.Phe2Tyr) | |
| MT | m.5908T>C | CA414780759 | MT-CO1 | c.5T>C (p.Phe2Ser) | |
| MT | m.5908T>G | CA414780761 | MT-CO1 | c.5T>G (p.Phe2Cys) | |
| MT | m.5908T= | CA2573323050 | MT-CO1 | c.5T= (p.Phe2=) | |
| MT | m.5909C>A | CA414780763 | MT-CO1 | c.6C>A (p.Phe2Leu) | |
| MT | m.5909C= | CA2573323055 | MT-CO1 | c.6C= (p.Phe2=) | |
| MT | m.5909C>G | CA414780762 | MT-CO1 | c.6C>G (p.Phe2Leu) | |
| MT | m.5909C>T | CA913180797 | MT-CO1 | c.6C>T (p.Phe2=) | |
| MT | m.5910G>A | CA414780764 | MT-CO1 | c.7G>A (p.Ala3Thr) | ClinVar dbSNP |
| MT | m.5910G>C | CA414780765 | MT-CO1 | c.7G>C (p.Ala3Pro) | dbSNP |
| MT | m.5910G= | CA2499564626 | MT-CO1 | c.7G= (p.Ala3=) | |
| MT | m.5910G>T | CA414780766 | MT-CO1 | c.7G>T (p.Ala3Ser) | |
| MT | m.5911C>A | CA414780767 | MT-CO1 | c.8C>A (p.Ala3Asp) | |
| MT | m.5911C= | CA2499564627 | MT-CO1 | c.8C= (p.Ala3=) | |
| MT | m.5911C>G | CA414780768 | MT-CO1 | c.8C>G (p.Ala3Gly) | |
| MT | m.5911C>T | CA337097281 | MT-CO1 | c.8C>T (p.Ala3Val) | ClinVar dbSNP |
| MT | m.5912C>A | CA913180801 | MT-CO1 | c.9C>A (p.Ala3=) | |
| MT | m.5912C= | CA2573323069 | MT-CO1 | c.9C= (p.Ala3=) | |
| MT | m.5912C>G | CA913180800 | MT-CO1 | c.9C>G (p.Ala3=) | |
| MT | m.5912C>T | CA913180799 | MT-CO1 | c.9C>T (p.Ala3=) | |
| MT | m.5913G>A | CA337097283 | MT-CO1 | c.10G>A (p.Asp4Asn) | ClinVar dbSNP |
| MT | m.5913G>C | CA414780772 | MT-CO1 | c.10G>C (p.Asp4His) | |
| MT | m.5913G= | CA2499564628 | MT-CO1 | c.10G= (p.Asp4=) | |
| MT | m.5913G>T | CA414780775 | MT-CO1 | c.10G>T (p.Asp4Tyr) | |
| MT | m.5914A= | CA2499564629 | MT-CO1 | c.11A= (p.Asp4=) | |
| MT | m.5914A>C | CA414780777 | MT-CO1 | c.11A>C (p.Asp4Ala) | |
| MT | m.5914A>G | CA414780779 | MT-CO1 | c.11A>G (p.Asp4Gly) | dbSNP |
| MT | m.5914A>T | CA414780781 | MT-CO1 | c.11A>T (p.Asp4Val) | |
| MT | m.5915C>A | CA414780783 | MT-CO1 | c.12C>A (p.Asp4Glu) | |
| MT | m.5915C= | CA2499564630 | MT-CO1 | c.12C= (p.Asp4=) | |
| MT | m.5915C>G | CA414780784 | MT-CO1 | c.12C>G (p.Asp4Glu) | |
| MT | m.5915C>T | CA913180802 | MT-CO1 | c.12C>T (p.Asp4=) | dbSNP |
| MT | m.5916C>A | CA414780787 | MT-CO1 | c.13C>A (p.Arg5Ser) | |
| MT | m.5916C= | CA2573323087 | MT-CO1 | c.13C= (p.Arg5=) | |
| MT | m.5916C>G | CA414780791 | MT-CO1 | c.13C>G (p.Arg5Gly) | |
| MT | m.5916C>T | CA414780792 | MT-CO1 | c.13C>T (p.Arg5Cys) | |
| MT | m.5917G>A | CA414780795 | MT-CO1 | c.14G>A (p.Arg5His) | |
| MT | m.5917G>C | CA414780796 | MT-CO1 | c.14G>C (p.Arg5Pro) | |
| MT | m.5917G= | CA2573323093 | MT-CO1 | c.14G= (p.Arg5=) | |
| MT | m.5917G>T | CA414780798 | MT-CO1 | c.14G>T (p.Arg5Leu) | |
| MT | m.5918T>A | CA913180804 | MT-CO1 | c.15T>A (p.Arg5=) | |
| MT | m.5918T>C | CA913180805 | MT-CO1 | c.15T>C (p.Arg5=) | ClinVar dbSNP |
| MT | m.5918T>G | CA913180806 | MT-CO1 | c.15T>G (p.Arg5=) | |
| MT | m.5918T= | CA2499564631 | MT-CO1 | c.15T= (p.Arg5=) | |
| MT | m.5919T>A | CA414780800 | MT-CO1 | c.16T>A (p.Ter6Arg) | |
| MT | m.5919T>C | CA414780802 | MT-CO1 | c.16T>C (p.Ter6Arg) | |
| MT | m.5919T>G | CA414780804 | MT-CO1 | c.16T>G (p.Ter6Gly) | |
| MT | m.5919T= | CA414780805 | MT-CO1 | c.16T= (p.Ter6=) | |
| MT | m.5920G>A | CA120613 | MT-CO1 | c.17G>A (p.Ter6=) | ClinVar dbSNP |
| MT | m.5920G>C | CA414780810 | MT-CO1 | c.17G>C (p.Ter6Ser) | |
| MT | m.5920G= | CA414780809 | MT-CO1 | c.17G= (p.Ter6=) | |
| MT | m.5920G>T | CA414780806 | MT-CO1 | c.17G>T (p.Ter6Leu) | |
| MT | m.5921A= | CA414780813 | MT-CO1 | c.18A= (p.Ter6=) | |
| MT | m.5921A>C | CA414780815 | MT-CO1 | c.18A>C (p.Ter6Cys) | |
| MT | m.5921A>G | CA414780817 | MT-CO1 | c.18A>G (p.Ter6Trp) | dbSNP |
| MT | m.5921A>T | CA414780819 | MT-CO1 | c.18A>T (p.Ter6Cys) | |
| MT | m.5922C>A | CA414780821 | MT-CO1 | c.19C>A (p.Leu7Ile) | |
| MT | m.5922C= | CA2499564632 | MT-CO1 | c.19C= (p.Leu7=) | |
| MT | m.5922C>G | CA414780823 | MT-CO1 | c.19C>G (p.Leu7Val) | |
| MT | m.5922C>T | CA913180809 | MT-CO1 | c.19C>T (p.Leu7=) | dbSNP |
| MT | m.5923T>A | CA414780825 | MT-CO1 | c.20T>A (p.Leu7Gln) | |
| MT | m.5923T>C | CA414780827 | MT-CO1 | c.20T>C (p.Leu7Pro) | |
| MT | m.5923T>G | CA414780828 | MT-CO1 | c.20T>G (p.Leu7Arg) | |
| MT | m.5923T= | CA2573323109 | MT-CO1 | c.20T= (p.Leu7=) | |
| MT | m.5924_5925del | CA2573104811 | MT-CO1 | c.21_22del (p.Phe8LeufsTer?) | |
| MT | m.5924A= | CA2499564633 | MT-CO1 | c.21A= (p.Leu7=) | |
| MT | m.5924A>C | CA913180812 | MT-CO1 | c.21A>C (p.Leu7=) | |
| MT | m.5924A>G | CA913180810 | MT-CO1 | c.21A>G (p.Leu7=) | dbSNP |
| MT | m.5924A>T | CA913180811 | MT-CO1 | c.21A>T (p.Leu7=) | |
| MT | m.5925T>A | CA414780831 | MT-CO1 | c.22T>A (p.Phe8Ile) | |
| MT | m.5925T>C | CA414780833 | MT-CO1 | c.22T>C (p.Phe8Leu) | |
| MT | m.5925T>G | CA414780835 | MT-CO1 | c.22T>G (p.Phe8Val) | |
| MT | m.5925T= | CA2573323115 | MT-CO1 | c.22T= (p.Phe8=) | |
| MT | m.5926T>A | CA414780837 | MT-CO1 | c.23T>A (p.Phe8Tyr) | |
| MT | m.5926T>C | CA414780841 | MT-CO1 | c.23T>C (p.Phe8Ser) | COSMIC COSMIC |
| MT | m.5926T>G | CA414780839 | MT-CO1 | c.23T>G (p.Phe8Cys) | |
| MT | m.5926T= | CA2573323120 | MT-CO1 | c.23T= (p.Phe8=) | |
| MT | m.5927C>A | CA414780843 | MT-CO1 | c.24C>A (p.Phe8Leu) | |
| MT | m.5927C= | CA2499564634 | MT-CO1 | c.24C= (p.Phe8=) | |
| MT | m.5927C>G | CA414780844 | MT-CO1 | c.24C>G (p.Phe8Leu) | |
| MT | m.5927C>T | CA913180815 | MT-CO1 | c.24C>T (p.Phe8=) | dbSNP |
| MT | m.5928T>A | CA414780847 | MT-CO1 | c.25T>A (p.Ser9Thr) | |
| MT | m.5928T>C | CA414780849 | MT-CO1 | c.25T>C (p.Ser9Pro) | dbSNP |
| MT | m.5928T>G | CA414780850 | MT-CO1 | c.25T>G (p.Ser9Ala) | |
| MT | m.5928T= | CA2499564635 | MT-CO1 | c.25T= (p.Ser9=) | |
| MT | m.5929C>A | CA414780853 | MT-CO1 | c.26C>A (p.Ser9Tyr) | |
| MT | m.5929C= | CA2573323132 | MT-CO1 | c.26C= (p.Ser9=) | |
| MT | m.5929C>G | CA414780854 | MT-CO1 | c.26C>G (p.Ser9Cys) | |
| MT | m.5929C>T | CA414780855 | MT-CO1 | c.26C>T (p.Ser9Phe) | |
| MT | m.5930T>A | CA913180816 | MT-CO1 | c.27T>A (p.Ser9=) | |
| MT | m.5930T>C | CA913180817 | MT-CO1 | c.27T>C (p.Ser9=) | dbSNP |
| MT | m.5930T>G | CA913180818 | MT-CO1 | c.27T>G (p.Ser9=) | |
| MT | m.5930T= | CA2499564636 | MT-CO1 | c.27T= (p.Ser9=) | |
| MT | m.5931A= | CA2573323137 | MT-CO1 | c.28A= (p.Thr10=) | |
| MT | m.5931A>C | CA414780858 | MT-CO1 | c.28A>C (p.Thr10Pro) | |
| MT | m.5931A>G | CA414780860 | MT-CO1 | c.28A>G (p.Thr10Ala) | |
| MT | m.5931A>T | CA414780861 | MT-CO1 | c.28A>T (p.Thr10Ser) | |
| MT | m.5932C>A | CA414780869 | MT-CO1 | c.29C>A (p.Thr10Lys) | |
| MT | m.5932C= | CA2573323146 | MT-CO1 | c.29C= (p.Thr10=) | |
| MT | m.5932C>G | CA414780868 | MT-CO1 | c.29C>G (p.Thr10Arg) | |
| MT | m.5932C>T | CA414780864 | MT-CO1 | c.29C>T (p.Thr10Ile) | |
| MT | m.5933A= | CA2573323148 | MT-CO1 | c.30A= (p.Thr10=) | |
| MT | m.5933A>C | CA913180820 | MT-CO1 | c.30A>C (p.Thr10=) | |
| MT | m.5933A>G | CA913180822 | MT-CO1 | c.30A>G (p.Thr10=) | |
| MT | m.5933A>T | CA913180821 | MT-CO1 | c.30A>T (p.Thr10=) | |
| MT | m.5934A= | CA2573323151 | MT-CO1 | c.31A= (p.Asn11=) | |
| MT | m.5934A>C | CA414780873 | MT-CO1 | c.31A>C (p.Asn11His) | |
| MT | m.5934A>G | CA414780874 | MT-CO1 | c.31A>G (p.Asn11Asp) | |
| MT | m.5934A>T | CA414780876 | MT-CO1 | c.31A>T (p.Asn11Tyr) | |
| MT | m.5935A= | CA2573323152 | MT-CO1 | c.32A= (p.Asn11=) | |
| MT | m.5935A>C | CA414780879 | MT-CO1 | c.32A>C (p.Asn11Thr) | |
| MT | m.5935A>G | CA414780880 | MT-CO1 | c.32A>G (p.Asn11Ser) | |
| MT | m.5935A>T | CA414780882 | MT-CO1 | c.32A>T (p.Asn11Ile) | |
| MT | m.5936C>A | CA414780885 | MT-CO1 | c.33C>A (p.Asn11Lys) | |
| MT | m.5936C= | CA2499564637 | MT-CO1 | c.33C= (p.Asn11=) | |
| MT | m.5936C>G | CA414780886 | MT-CO1 | c.33C>G (p.Asn11Lys) | |
| MT | m.5936C>T | CA913180823 | MT-CO1 | c.33C>T (p.Asn11=) | dbSNP |
| MT | m.5937C>A | CA414780888 | MT-CO1 | c.34C>A (p.His12Asn) | |
| MT | m.5937C= | CA2573323158 | MT-CO1 | c.34C= (p.His12=) | |
| MT | m.5937C>G | CA414780890 | MT-CO1 | c.34C>G (p.His12Asp) | |
| MT | m.5937C>T | CA414780892 | MT-CO1 | c.34C>T (p.His12Tyr) | |
| MT | m.5938A= | CA2573323161 | MT-CO1 | c.35A= (p.His12=) | |
| MT | m.5938A>C | CA414780895 | MT-CO1 | c.35A>C (p.His12Pro) | |
| MT | m.5938A>G | CA414780899 | MT-CO1 | c.35A>G (p.His12Arg) | |
| MT | m.5938A>T | CA414780893 | MT-CO1 | c.35A>T (p.His12Leu) | |
| MT | m.5939C>A | CA414780902 | MT-CO1 | c.36C>A (p.His12Gln) | |
| MT | m.5939C= | CA2499564638 | MT-CO1 | c.36C= (p.His12=) | |
| MT | m.5939C>G | CA414780905 | MT-CO1 | c.36C>G (p.His12Gln) | |
| MT | m.5939C>T | CA913180825 | MT-CO1 | c.36C>T (p.His12=) | dbSNP |
| MT | m.5940A= | CA2573323164 | MT-CO1 | c.37A= (p.Lys13=) | |
| MT | m.5940A>C | CA414780907 | MT-CO1 | c.37A>C (p.Lys13Gln) | |
| MT | m.5940A>G | CA414780909 | MT-CO1 | c.37A>G (p.Lys13Glu) | |
| MT | m.5940A>T | CA414780912 | MT-CO1 | c.37A>T (p.Lys13Ter) | |
| MT | m.5941A= | CA2573323168 | MT-CO1 | c.38A= (p.Lys13=) | |
| MT | m.5941A>C | CA414780915 | MT-CO1 | c.38A>C (p.Lys13Thr) | |
| MT | m.5941A>G | CA414780916 | MT-CO1 | c.38A>G (p.Lys13Arg) | |
| MT | m.5941A>T | CA414780920 | MT-CO1 | c.38A>T (p.Lys13Ile) | |
| MT | m.5942A= | CA2573323173 | MT-CO1 | c.39A= (p.Lys13=) | |
| MT | m.5942A>C | CA414780923 | MT-CO1 | c.39A>C (p.Lys13Asn) | |
| MT | m.5942A>G | CA913180829 | MT-CO1 | c.39A>G (p.Lys13=) | |
| MT | m.5942A>T | CA414780926 | MT-CO1 | c.39A>T (p.Lys13Asn) | |
| MT | m.5943G>A | CA414780935 | MT-CO1 | c.40G>A (p.Asp14Asn) | |
| MT | m.5943G>C | CA414780932 | MT-CO1 | c.40G>C (p.Asp14His) | |
| MT | m.5943G= | CA2573323177 | MT-CO1 | c.40G= (p.Asp14=) | |
| MT | m.5943G>T | CA414780929 | MT-CO1 | c.40G>T (p.Asp14Tyr) | |
| MT | m.5944A= | CA2573323182 | MT-CO1 | c.41A= (p.Asp14=) | |
| MT | m.5944A>C | CA414780938 | MT-CO1 | c.41A>C (p.Asp14Ala) | |
| MT | m.5944A>G | CA414780940 | MT-CO1 | c.41A>G (p.Asp14Gly) | |
| MT | m.5944A>T | CA414780942 | MT-CO1 | c.41A>T (p.Asp14Val) | |
| MT | m.5945C>A | CA414780944 | MT-CO1 | c.42C>A (p.Asp14Glu) | |
| MT | m.5945C= | CA2499564639 | MT-CO1 | c.42C= (p.Asp14=) | |
| MT | m.5945C>G | CA414780946 | MT-CO1 | c.42C>G (p.Asp14Glu) | |
| MT | m.5945C>T | CA913180833 | MT-CO1 | c.42C>T (p.Asp14=) | dbSNP |
| MT | m.5946A= | CA2573323190 | MT-CO1 | c.43A= (p.Ile15=) | |
| MT | m.5946A>C | CA414780947 | MT-CO1 | c.43A>C (p.Ile15Leu) | |
| MT | m.5946A>G | CA414780948 | MT-CO1 | c.43A>G (p.Ile15Val) | |
| MT | m.5946A>T | CA414780950 | MT-CO1 | c.43A>T (p.Ile15Phe) | |
| MT | m.5947T>A | CA414780952 | MT-CO1 | c.44T>A (p.Ile15Asn) | |
| MT | m.5947T>C | CA414780954 | MT-CO1 | c.44T>C (p.Ile15Thr) | |
| MT | m.5947T>G | CA414780956 | MT-CO1 | c.44T>G (p.Ile15Ser) | |
| MT | m.5947T= | CA2573323196 | MT-CO1 | c.44T= (p.Ile15=) | |
| MT | m.5948T>A | CA913180836 | MT-CO1 | c.45T>A (p.Ile15=) | |
| MT | m.5948T>C | CA913180837 | MT-CO1 | c.45T>C (p.Ile15=) | dbSNP |
| MT | m.5948T>G | CA414780957 | MT-CO1 | c.45T>G (p.Ile15Met) | |
| MT | m.5948T= | CA2499564640 | MT-CO1 | c.45T= (p.Ile15=) | |
| MT | m.5949G>A | CA414780963 | MT-CO1 | c.46G>A (p.Gly16Arg) | dbSNP |
| MT | m.5949G>C | CA414780961 | MT-CO1 | c.46G>C (p.Gly16Arg) | |
| MT | m.5949G= | CA2499564641 | MT-CO1 | c.46G= (p.Gly16=) | |
| MT | m.5949G>T | CA414780959 | MT-CO1 | c.46G>T (p.Gly16Ter) | |
| MT | m.5950G>A | CA414780966 | MT-CO1 | c.47G>A (p.Gly16Glu) | |
| MT | m.5950G>C | CA414780969 | MT-CO1 | c.47G>C (p.Gly16Ala) | |
| MT | m.5950G= | CA2513004944 | MT-CO1 | c.47G= (p.Gly16=) | |
| MT | m.5950G>T | CA414780967 | MT-CO1 | c.47G>T (p.Gly16Val) | |
| 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 |