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.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10781A= | CA2573326754 | MT-ND4 | c.22A= (p.Thr8=) | |
| MT | m.10781A>C | CA414806824 | MT-ND4 | c.22A>C (p.Thr8Pro) | |
| MT | m.10781A>G | CA414806825 | MT-ND4 | c.22A>G (p.Thr8Ala) | |
| MT | m.10781A>T | CA414806826 | MT-ND4 | c.22A>T (p.Thr8Ser) | |
| MT | m.10782C>A | CA414806834 | MT-ND4 | c.23C>A (p.Thr8Lys) | |
| MT | m.10782C= | CA2513690119 | MT-ND4 | c.23C= (p.Thr8=) | |
| MT | m.10782C>G | CA414806830 | MT-ND4 | c.23C>G (p.Thr8Arg) | |
| MT | m.10782C>T | CA414806832 | MT-ND4 | c.23C>T (p.Thr8Ile) | |
| MT | m.10783A= | CA2499566957 | MT-ND4 | c.24A= (p.Thr8=) | |
| MT | m.10783A>C | CA337099015 | MT-ND4 | c.24A>C (p.Thr8=) | dbSNP |
| MT | m.10783A>G | CA913164666 | MT-ND4 | c.24A>G (p.Thr8=) | |
| MT | m.10783A>T | CA913164668 | MT-ND4 | c.24A>T (p.Thr8=) | |
| MT | m.10784A= | CA2573326759 | MT-ND4 | c.25A= (p.Ile9=) | |
| MT | m.10784A>C | CA414806838 | MT-ND4 | c.25A>C (p.Ile9Leu) | |
| MT | m.10784A>G | CA414806840 | MT-ND4 | c.25A>G (p.Ile9Val) | |
| MT | m.10784A>T | CA414806842 | MT-ND4 | c.25A>T (p.Ile9Phe) | |
| MT | m.10785T>A | CA414806845 | MT-ND4 | c.26T>A (p.Ile9Asn) | |
| MT | m.10785T>C | CA414806852 | MT-ND4 | c.26T>C (p.Ile9Thr) | ClinVar dbSNP |
| MT | m.10785T>G | CA414806854 | MT-ND4 | c.26T>G (p.Ile9Ser) | |
| MT | m.10785T= | CA2499566959 | MT-ND4 | c.26T= (p.Ile9=) | |
| MT | m.10786T>A | CA913164685 | MT-ND4 | c.27T>A (p.Ile9=) | |
| MT | m.10786T>C | CA913164686 | MT-ND4 | c.27T>C (p.Ile9=) | dbSNP |
| MT | m.10786T>G | CA414806856 | MT-ND4 | c.27T>G (p.Ile9Met) | |
| MT | m.10786T= | CA2499566960 | MT-ND4 | c.27T= (p.Ile9=) | |
| MT | m.10787A= | CA2573326765 | MT-ND4 | c.28A= (p.Ile10=) | |
| MT | m.10787A>C | CA414806859 | MT-ND4 | c.28A>C (p.Ile10Leu) | |
| MT | m.10787A>G | CA414806860 | MT-ND4 | c.28A>G (p.Ile10Val) | |
| MT | m.10787A>T | CA414806863 | MT-ND4 | c.28A>T (p.Ile10Leu) | |
| MT | m.10788T>A | CA414806867 | MT-ND4 | c.29T>A (p.Ile10Lys) | |
| MT | m.10788T>C | CA414806869 | MT-ND4 | c.29T>C (p.Ile10Thr) | |
| MT | m.10788T>G | CA414806865 | MT-ND4 | c.29T>G (p.Ile10Arg) | |
| MT | m.10788T= | CA2573326768 | MT-ND4 | c.29T= (p.Ile10=) | |
| MT | m.10789A= | CA2573326770 | MT-ND4 | c.30A= (p.Ile10=) | |
| MT | m.10789A>C | CA913164694 | MT-ND4 | c.30A>C (p.Ile10=) | |
| MT | m.10789A>G | CA414806870 | MT-ND4 | c.30A>G (p.Ile10Met) | dbSNP |
| MT | m.10789A>T | CA913164693 | MT-ND4 | c.30A>T (p.Ile10=) | |
| MT | m.10790T>A | CA414806872 | MT-ND4 | c.31T>A (p.Leu11Ile) | |
| MT | m.10790T>C | CA337099019 | MT-ND4 | c.31T>C (p.Leu11=) | dbSNP |
| MT | m.10790T>G | CA414806876 | MT-ND4 | c.31T>G (p.Leu11Val) | |
| MT | m.10790T= | CA2499566961 | MT-ND4 | c.31T= (p.Leu11=) | |
| MT | m.10791T>A | CA414806879 | MT-ND4 | c.32T>A (p.Leu11Ter) | |
| MT | m.10791T>C | CA414806881 | MT-ND4 | c.32T>C (p.Leu11Ser) | ClinVar dbSNP |
| MT | m.10791T>G | CA414806882 | MT-ND4 | c.32T>G (p.Leu11Ter) | |
| MT | m.10791T= | CA2499566962 | MT-ND4 | c.32T= (p.Leu11=) | |
| MT | m.10792A= | CA2499566963 | MT-ND4 | c.33A= (p.Leu11=) | |
| MT | m.10792A>C | CA414806889 | MT-ND4 | c.33A>C (p.Leu11Phe) | |
| MT | m.10792A>G | CA913164696 | MT-ND4 | c.33A>G (p.Leu11=) | dbSNP |
| MT | m.10792A>T | CA414806891 | MT-ND4 | c.33A>T (p.Leu11Phe) | |
| MT | m.10793C>A | CA414806897 | MT-ND4 | c.34C>A (p.Leu12Ile) | |
| MT | m.10793C= | CA2499566964 | MT-ND4 | c.34C= (p.Leu12=) | |
| MT | m.10793C>G | CA414806899 | MT-ND4 | c.34C>G (p.Leu12Val) | |
| MT | m.10793C>T | CA913164703 | MT-ND4 | c.34C>T (p.Leu12=) | dbSNP |
| MT | m.10794T>A | CA414806902 | MT-ND4 | c.35T>A (p.Leu12Gln) | |
| MT | m.10794T>C | CA414806903 | MT-ND4 | c.35T>C (p.Leu12Pro) | |
| MT | m.10794T>G | CA414806905 | MT-ND4 | c.35T>G (p.Leu12Arg) | |
| MT | m.10794T= | CA2573326777 | MT-ND4 | c.35T= (p.Leu12=) | |
| MT | m.10795A= | CA2499566965 | MT-ND4 | c.36A= (p.Leu12=) | |
| MT | m.10795A>C | CA913164711 | MT-ND4 | c.36A>C (p.Leu12=) | |
| MT | m.10795A>G | CA913164712 | MT-ND4 | c.36A>G (p.Leu12=) | dbSNP |
| MT | m.10795A>T | CA913164713 | MT-ND4 | c.36A>T (p.Leu12=) | |
| MT | m.10796C>A | CA414806911 | MT-ND4 | c.37C>A (p.Pro13Thr) | |
| MT | m.10796C= | CA2573326779 | MT-ND4 | c.37C= (p.Pro13=) | |
| MT | m.10796C>G | CA414806908 | MT-ND4 | c.37C>G (p.Pro13Ala) | |
| MT | m.10796C>T | CA414806909 | MT-ND4 | c.37C>T (p.Pro13Ser) | |
| MT | m.10797C>A | CA414806914 | MT-ND4 | c.38C>A (p.Pro13Gln) | |
| MT | m.10797C= | CA2573326780 | MT-ND4 | c.38C= (p.Pro13=) | |
| MT | m.10797C>G | CA414806916 | MT-ND4 | c.38C>G (p.Pro13Arg) | |
| MT | m.10797C>T | CA414806918 | MT-ND4 | c.38C>T (p.Pro13Leu) | |
| MT | m.10798A= | CA2499566966 | MT-ND4 | c.39A= (p.Pro13=) | |
| MT | m.10798A>C | CA913164725 | MT-ND4 | c.39A>C (p.Pro13=) | |
| MT | m.10798A>G | CA658653724 | MT-ND4 | c.39A>G (p.Pro13=) | ClinVar dbSNP |
| MT | m.10798A>T | CA913164726 | MT-ND4 | c.39A>T (p.Pro13=) | |
| MT | m.10799C>A | CA414806922 | MT-ND4 | c.40C>A (p.Leu14Met) | |
| MT | m.10799C= | CA2573326782 | MT-ND4 | c.40C= (p.Leu14=) | |
| MT | m.10799C>G | CA414806923 | MT-ND4 | c.40C>G (p.Leu14Val) | |
| MT | m.10799C>T | CA913164733 | MT-ND4 | c.40C>T (p.Leu14=) | |
| MT | m.10800T>A | CA414806927 | MT-ND4 | c.41T>A (p.Leu14Gln) | |
| MT | m.10800T>C | CA414806928 | MT-ND4 | c.41T>C (p.Leu14Pro) | |
| MT | m.10800T>G | CA414806930 | MT-ND4 | c.41T>G (p.Leu14Arg) | |
| MT | m.10800T= | CA2573326784 | MT-ND4 | c.41T= (p.Leu14=) | |
| MT | m.10801G>A | CA913164734 | MT-ND4 | c.42G>A (p.Leu14=) | dbSNP |
| MT | m.10801G>C | CA913164736 | MT-ND4 | c.42G>C (p.Leu14=) | |
| MT | m.10801G= | CA2499566967 | MT-ND4 | c.42G= (p.Leu14=) | |
| MT | m.10801G>T | CA913164735 | MT-ND4 | c.42G>T (p.Leu14=) | |
| MT | m.10802A= | CA2573326788 | MT-ND4 | c.43A= (p.Thr15=) | |
| MT | m.10802A>C | CA414806933 | MT-ND4 | c.43A>C (p.Thr15Pro) | |
| MT | m.10802A>G | CA414806934 | MT-ND4 | c.43A>G (p.Thr15Ala) | |
| MT | m.10802A>T | CA414806936 | MT-ND4 | c.43A>T (p.Thr15Ser) | |
| MT | m.10803C>A | CA414806939 | MT-ND4 | c.44C>A (p.Thr15Lys) | |
| MT | m.10803C= | CA2573326789 | MT-ND4 | c.44C= (p.Thr15=) | |
| MT | m.10803C>G | CA414806943 | MT-ND4 | c.44C>G (p.Thr15Arg) | |
| MT | m.10803C>T | CA414806940 | MT-ND4 | c.44C>T (p.Thr15Ile) | |
| MT | m.10804A= | CA2573326792 | MT-ND4 | c.45A= (p.Thr15=) | |
| MT | m.10804A>C | CA913164743 | MT-ND4 | c.45A>C (p.Thr15=) | |
| MT | m.10804A>G | CA913164746 | MT-ND4 | c.45A>G (p.Thr15=) | |
| MT | m.10804A>T | CA913164745 | MT-ND4 | c.45A>T (p.Thr15=) | |
| MT | m.10805T>A | CA414806945 | MT-ND4 | c.46T>A (p.Ter16Arg) | |
| MT | m.10805T>C | CA414806946 | MT-ND4 | c.46T>C (p.Ter16Arg) | |
| MT | m.10805T>G | CA414806948 | MT-ND4 | c.46T>G (p.Ter16Gly) | |
| MT | m.10805T= | CA414806949 | MT-ND4 | c.46T= (p.Ter16=) | |
| MT | m.10805_10813del | CA2573105070 | MT-ND4 | c.46_54del (p.Ter16_Ser18del) | |
| MT | m.10806G>A | CA414806952 | MT-ND4 | c.47G>A (p.Ter16=) | |
| MT | m.10806G>C | CA414806954 | MT-ND4 | c.47G>C (p.Ter16Ser) | |
| MT | m.10806G= | CA414806955 | MT-ND4 | c.47G= (p.Ter16=) | |
| MT | m.10806G>T | CA414806957 | MT-ND4 | c.47G>T (p.Ter16Leu) | |
| MT | m.10807A= | CA414806960 | MT-ND4 | c.48A= (p.Ter16=) | |
| MT | m.10807A>C | CA414806961 | MT-ND4 | c.48A>C (p.Ter16Cys) | |
| MT | m.10807A>G | CA414806962 | MT-ND4 | c.48A>G (p.Ter16Trp) | |
| MT | m.10807A>T | CA414806968 | MT-ND4 | c.48A>T (p.Ter16Cys) | |
| MT | m.10808C>A | CA414806971 | MT-ND4 | c.49C>A (p.Leu17Ile) | |
| MT | m.10808C= | CA2499566968 | MT-ND4 | c.49C= (p.Leu17=) | |
| MT | m.10808C>G | CA414806977 | MT-ND4 | c.49C>G (p.Leu17Val) | |
| MT | m.10808C>T | CA414806975 | MT-ND4 | c.49C>T (p.Leu17Phe) | dbSNP |
| MT | m.10809T>A | CA414806980 | MT-ND4 | c.50T>A (p.Leu17His) | |
| MT | m.10809T>C | CA414806982 | MT-ND4 | c.50T>C (p.Leu17Pro) | |
| MT | m.10809T>G | CA414806983 | MT-ND4 | c.50T>G (p.Leu17Arg) | |
| MT | m.10809T= | CA2513026488 | MT-ND4 | c.50T= (p.Leu17=) | |
| MT | m.10810T>A | CA913164764 | MT-ND4 | c.51T>A (p.Leu17=) | |
| MT | m.10810T>C | CA337099022 | MT-ND4 | c.51T>C (p.Leu17=) | dbSNP |
| MT | m.10810T>G | CA913164763 | MT-ND4 | c.51T>G (p.Leu17=) | |
| MT | m.10810T= | CA2499566969 | MT-ND4 | c.51T= (p.Leu17=) | |
| MT | m.10811T>A | CA414806986 | MT-ND4 | c.52T>A (p.Ser18Thr) | |
| MT | m.10811T>C | CA414806988 | MT-ND4 | c.52T>C (p.Ser18Pro) | |
| MT | m.10811T>G | CA414806989 | MT-ND4 | c.52T>G (p.Ser18Ala) | |
| MT | m.10811T= | CA2573326803 | MT-ND4 | c.52T= (p.Ser18=) | |
| MT | m.10812C>A | CA414806992 | MT-ND4 | c.53C>A (p.Ser18Tyr) | |
| MT | m.10812C= | CA2573326805 | MT-ND4 | c.53C= (p.Ser18=) | |
| MT | m.10812C>G | CA414806994 | MT-ND4 | c.53C>G (p.Ser18Cys) | |
| MT | m.10812C>T | CA414806995 | MT-ND4 | c.53C>T (p.Ser18Phe) | |
| MT | m.10813C>A | CA913164767 | MT-ND4 | c.54C>A (p.Ser18=) | |
| MT | m.10813C= | CA2573326806 | MT-ND4 | c.54C= (p.Ser18=) | |
| MT | m.10813C>G | CA913164771 | MT-ND4 | c.54C>G (p.Ser18=) | |
| MT | m.10813C>T | CA913164772 | MT-ND4 | c.54C>T (p.Ser18=) | |
| MT | m.10814A= | CA2573326807 | MT-ND4 | c.55A= (p.Lys19=) | |
| MT | m.10814A>C | CA414807001 | MT-ND4 | c.55A>C (p.Lys19Gln) | |
| MT | m.10814A>G | CA414807003 | MT-ND4 | c.55A>G (p.Lys19Glu) | |
| MT | m.10814A>T | CA414806999 | MT-ND4 | c.55A>T (p.Lys19Ter) | |
| MT | m.10819dup | CA2573105071 | MT-ND4 | c.60dup (p.His21ThrfsTer15) | |
| MT | m.10818_10819del | CA2573105072 | MT-ND4 | c.59_60del (p.Lys20ThrfsTer15) | |
| MT | m.10815A= | CA2573326810 | MT-ND4 | c.56A= (p.Lys19=) | |
| MT | m.10815A>C | CA414807006 | MT-ND4 | c.56A>C (p.Lys19Thr) | |
| MT | m.10815A>G | CA414807004 | MT-ND4 | c.56A>G (p.Lys19Arg) | |
| MT | m.10815A>T | CA414807005 | MT-ND4 | c.56A>T (p.Lys19Ile) | |
| MT | m.10816A= | CA2499566970 | MT-ND4 | c.57A= (p.Lys19=) | |
| MT | m.10816A>C | CA414807008 | MT-ND4 | c.57A>C (p.Lys19Asn) | |
| MT | m.10816A>G | CA913164779 | MT-ND4 | c.57A>G (p.Lys19=) | dbSNP |
| MT | m.10816A>T | CA414807009 | MT-ND4 | c.57A>T (p.Lys19Asn) | |
| MT | m.10817A= | CA2573326812 | MT-ND4 | c.58A= (p.Lys20=) | |
| MT | m.10817A>C | CA414807012 | MT-ND4 | c.58A>C (p.Lys20Gln) | |
| MT | m.10817A>G | CA414807013 | MT-ND4 | c.58A>G (p.Lys20Glu) | |
| MT | m.10817A>T | CA414807015 | MT-ND4 | c.58A>T (p.Lys20Ter) | |
| MT | m.10818A= | CA2573326813 | MT-ND4 | c.59A= (p.Lys20=) | |
| MT | m.10818A>C | CA414807018 | MT-ND4 | c.59A>C (p.Lys20Thr) | |
| MT | m.10818A>G | CA414807020 | MT-ND4 | c.59A>G (p.Lys20Arg) | |
| MT | m.10818A>T | CA414807022 | MT-ND4 | c.59A>T (p.Lys20Ile) | |
| MT | m.10819A= | CA2499566971 | MT-ND4 | c.60A= (p.Lys20=) | |
| MT | m.10819A>C | CA414807027 | MT-ND4 | c.60A>C (p.Lys20Asn) | |
| MT | m.10819A>G | CA337099025 | MT-ND4 | c.60A>G (p.Lys20=) | dbSNP |
| MT | m.10819A>T | CA414807024 | MT-ND4 | c.60A>T (p.Lys20Asn) | |
| MT | m.10820C>A | CA414807029 | MT-ND4 | c.61C>A (p.His21Asn) | |
| MT | m.10820C= | CA2573326815 | MT-ND4 | c.61C= (p.His21=) | |
| MT | m.10820C>G | CA414807031 | MT-ND4 | c.61C>G (p.His21Asp) | |
| MT | m.10820C>T | CA414807033 | MT-ND4 | c.61C>T (p.His21Tyr) | |
| MT | m.10821A= | CA2573326818 | MT-ND4 | c.62A= (p.His21=) | |
| MT | m.10821A>C | CA414807035 | MT-ND4 | c.62A>C (p.His21Pro) | |
| MT | m.10821A>G | CA414807037 | MT-ND4 | c.62A>G (p.His21Arg) | dbSNP |
| MT | m.10821A>T | CA414807039 | MT-ND4 | c.62A>T (p.His21Leu) | |
| MT | m.10822C>A | CA414807041 | MT-ND4 | c.63C>A (p.His21Gln) | |
| MT | m.10822C= | CA2499566972 | MT-ND4 | c.63C= (p.His21=) | |
| MT | m.10822C>G | CA414807043 | MT-ND4 | c.63C>G (p.His21Gln) | |
| MT | m.10822C>T | CA337099027 | MT-ND4 | c.63C>T (p.His21=) | dbSNP |
| MT | m.10822_10824del | CA2573105073 | MT-ND4 | c.63_65del (p.His21_Ile22delinsGln) | |
| MT | m.10823A= | CA2573326821 | MT-ND4 | c.64A= (p.Ile22=) | |
| MT | m.10823A>C | CA414807047 | MT-ND4 | c.64A>C (p.Ile22Leu) | |
| MT | m.10823A>G | CA414807053 | MT-ND4 | c.64A>G (p.Ile22Val) | |
| MT | m.10823A>T | CA414807055 | MT-ND4 | c.64A>T (p.Ile22Leu) | |
| MT | m.10824T>A | CA414807060 | MT-ND4 | c.65T>A (p.Ile22Lys) | |
| MT | m.10824T>C | CA414807062 | MT-ND4 | c.65T>C (p.Ile22Thr) | |
| MT | m.10824T>G | CA414807058 | MT-ND4 | c.65T>G (p.Ile22Arg) | |
| MT | m.10824T= | CA2573326824 | MT-ND4 | c.65T= (p.Ile22=) | |
| MT | m.10825A= | CA2499566973 | MT-ND4 | c.66A= (p.Ile22=) | |
| MT | m.10825A>C | CA913164814 | MT-ND4 | c.66A>C (p.Ile22=) | |
| MT | m.10825A>G | CA337099029 | MT-ND4 | c.66A>G (p.Ile22Met) | dbSNP |
| MT | m.10825A>T | CA913164811 | MT-ND4 | c.66A>T (p.Ile22=) | |
| MT | m.10826A= | CA2499566974 | MT-ND4 | c.67A= (p.Ile23=) | |
| MT | m.10826A>C | CA414807066 | MT-ND4 | c.67A>C (p.Ile23Leu) | |
| MT | m.10826A>G | CA414807068 | MT-ND4 | c.67A>G (p.Ile23Val) | dbSNP COSMIC COSMIC |
| MT | m.10826A>T | CA414807069 | MT-ND4 | c.67A>T (p.Ile23Phe) | |
| MT | m.10827T>A | CA414807073 | MT-ND4 | c.68T>A (p.Ile23Asn) | |
| MT | m.10827T>C | CA414807074 | MT-ND4 | c.68T>C (p.Ile23Thr) | |
| MT | m.10827T>G | CA414807076 | MT-ND4 | c.68T>G (p.Ile23Ser) | |
| MT | m.10827T= | CA2573326829 | MT-ND4 | c.68T= (p.Ile23=) | |
| MT | m.10828T>A | CA913164830 | MT-ND4 | c.69T>A (p.Ile23=) | |
| MT | m.10828T>C | CA913164828 | MT-ND4 | c.69T>C (p.Ile23=) | dbSNP |
| MT | m.10828T>G | CA414807078 | MT-ND4 | c.69T>G (p.Ile23Met) | |
| MT | m.10828T= | CA2499566976 | MT-ND4 | c.69T= (p.Ile23=) | |
| MT | m.10829T>A | CA414807081 | MT-ND4 | c.70T>A (p.Ter24Arg) | |
| MT | m.10829T>C | CA414807083 | MT-ND4 | c.70T>C (p.Ter24Arg) | |
| MT | m.10829T>G | CA414807084 | MT-ND4 | c.70T>G (p.Ter24Gly) | |
| MT | m.10829T= | CA414807086 | MT-ND4 | c.70T= (p.Ter24=) | |
| MT | m.10830G>A | CA414807093 | MT-ND4 | c.71G>A (p.Ter24=) | |
| MT | m.10830G>C | CA414807091 | MT-ND4 | c.71G>C (p.Ter24Ser) | |
| MT | m.10830G= | CA414807089 | MT-ND4 | c.71G= (p.Ter24=) | |
| MT | m.10830G>T | CA414807090 | MT-ND4 | c.71G>T (p.Ter24Leu) | |
| MT | m.10831A= | CA414807096 | MT-ND4 | c.72A= (p.Ter24=) | |
| MT | m.10831A>C | CA414807097 | MT-ND4 | c.72A>C (p.Ter24Cys) | |
| MT | m.10831A>G | CA414807099 | MT-ND4 | c.72A>G (p.Ter24Trp) | dbSNP |
| MT | m.10831A>T | CA414807101 | MT-ND4 | c.72A>T (p.Ter24Cys) | |
| MT | m.10832A= | CA913164845 | MT-ND4 | c.73A= (p.Ile25=) | |
| MT | m.10832A>C | CA414807103 | MT-ND4 | c.73A>C (p.Ile25Leu) | |
| MT | m.10832A>G | CA414807104 | MT-ND4 | c.73A>G (p.Ile25Val) | |
| MT | m.10832A>T | CA414807106 | MT-ND4 | c.73A>T (p.Ile25Phe) | |
| MT | m.10833T>A | CA414807109 | MT-ND4 | c.74T>A (p.Ile25Asn) | |
| MT | m.10833T>C | CA414807111 | MT-ND4 | c.74T>C (p.Ile25Thr) | |
| MT | m.10833T>G | CA414807112 | MT-ND4 | c.74T>G (p.Ile25Ser) | |
| MT | m.10833T= | CA2513194985 | MT-ND4 | c.74T= (p.Ile25=) | |
| MT | m.10834C>A | CA337099031 | MT-ND4 | c.75C>A (p.Ile25=) | |
| MT | m.10834C= | CA2499566978 | MT-ND4 | c.75C= (p.Ile25=) | |
| MT | m.10834C>G | CA337099034 | MT-ND4 | c.75C>G (p.Ile25Met) | |
| MT | m.10834C>T | CA913164850 | MT-ND4 | c.75C>T (p.Ile25=) | dbSNP |
| MT | m.10835A= | CA2573326836 | MT-ND4 | c.76A= (p.Asn26=) | |
| MT | m.10835A>C | CA414807121 | MT-ND4 | c.76A>C (p.Asn26His) | |
| MT | m.10835A>G | CA414807119 | MT-ND4 | c.76A>G (p.Asn26Asp) | |
| MT | m.10835A>T | CA414807117 | MT-ND4 | c.76A>T (p.Asn26Tyr) | |
| MT | m.10836A= | CA2573326837 | MT-ND4 | c.77A= (p.Asn26=) | |
| MT | m.10836A>C | CA414807123 | MT-ND4 | c.77A>C (p.Asn26Thr) | |
| MT | m.10836A>G | CA414807127 | MT-ND4 | c.77A>G (p.Asn26Ser) | |
| MT | m.10836A>T | CA414807125 | MT-ND4 | c.77A>T (p.Asn26Ile) | |
| MT | m.10837C>A | CA414807130 | MT-ND4 | c.78C>A (p.Asn26Lys) | |
| MT | m.10837C= | CA2573326839 | MT-ND4 | c.78C= (p.Asn26=) | |
| MT | m.10837C>G | CA414807132 | MT-ND4 | c.78C>G (p.Asn26Lys) | |
| MT | m.10837C>T | CA913164862 | MT-ND4 | c.78C>T (p.Asn26=) | |
| MT | m.10838A= | CA2573326840 | MT-ND4 | c.79A= (p.Thr27=) | |
| MT | m.10838A>C | CA414807135 | MT-ND4 | c.79A>C (p.Thr27Pro) | |
| MT | m.10838A>G | CA414807137 | MT-ND4 | c.79A>G (p.Thr27Ala) | |
| MT | m.10838A>T | CA414807136 | MT-ND4 | c.79A>T (p.Thr27Ser) | |
| MT | m.10839C>A | CA414807140 | MT-ND4 | c.80C>A (p.Thr27Lys) | |
| MT | m.10839C= | CA2573326841 | MT-ND4 | c.80C= (p.Thr27=) | |
| MT | m.10839C>G | CA414807144 | MT-ND4 | c.80C>G (p.Thr27Arg) | |
| MT | m.10839C>T | CA414807142 | MT-ND4 | c.80C>T (p.Thr27Ile) | |
| MT | m.10840A= | CA2573326842 | MT-ND4 | c.81A= (p.Thr27=) | |
| MT | m.10840A>C | CA913164873 | MT-ND4 | c.81A>C (p.Thr27=) | |
| MT | m.10840A>G | CA913164876 | MT-ND4 | c.81A>G (p.Thr27=) | |
| MT | m.10840A>T | CA913164874 | MT-ND4 | c.81A>T (p.Thr27=) | |
| MT | m.10841A= | CA2573326845 | MT-ND4 | c.82A= (p.Thr28=) | |
| MT | m.10841A>C | CA414807146 | MT-ND4 | c.82A>C (p.Thr28Pro) | |
| MT | m.10841A>G | CA414807148 | MT-ND4 | c.82A>G (p.Thr28Ala) | |
| MT | m.10841A>T | CA414807150 | MT-ND4 | c.82A>T (p.Thr28Ser) | |
| MT | m.10842C>A | CA414807152 | MT-ND4 | c.83C>A (p.Thr28Asn) | |
| MT | m.10842C= | CA2573326848 | MT-ND4 | c.83C= (p.Thr28=) | |
| MT | m.10842C>G | CA414807154 | MT-ND4 | c.83C>G (p.Thr28Ser) | |
| MT | m.10842C>T | CA414807156 | MT-ND4 | c.83C>T (p.Thr28Ile) | |
| MT | m.10843C>A | CA913164893 | MT-ND4 | c.84C>A (p.Thr28=) | |
| MT | m.10843C= | CA2499566980 | MT-ND4 | c.84C= (p.Thr28=) | |
| MT | m.10843C>G | CA913164891 | MT-ND4 | c.84C>G (p.Thr28=) | |
| MT | m.10843C>T | CA913164890 | MT-ND4 | c.84C>T (p.Thr28=) | dbSNP |
| MT | m.10844A= | CA2573326852 | MT-ND4 | c.85A= (p.Thr29=) | |
| MT | m.10844A>C | CA414807158 | MT-ND4 | c.85A>C (p.Thr29Pro) | |
| MT | m.10844A>G | CA414807160 | MT-ND4 | c.85A>G (p.Thr29Ala) | |
| MT | m.10844A>T | CA414807162 | MT-ND4 | c.85A>T (p.Thr29Ser) | |
| MT | m.10845C>A | CA414807164 | MT-ND4 | c.86C>A (p.Thr29Asn) | |
| MT | m.10845C= | CA2499566981 | MT-ND4 | c.86C= (p.Thr29=) | |
| MT | m.10845C>G | CA414807166 | MT-ND4 | c.86C>G (p.Thr29Ser) | |
| MT | m.10845C>T | CA414807168 | MT-ND4 | c.86C>T (p.Thr29Ile) | ClinVar dbSNP |
| MT | m.10846C>A | CA913164899 | MT-ND4 | c.87C>A (p.Thr29=) | |
| MT | m.10846C= | CA2573326857 | MT-ND4 | c.87C= (p.Thr29=) | |
| MT | m.10846C>G | CA913164901 | MT-ND4 | c.87C>G (p.Thr29=) | |
| MT | m.10846C>T | CA913164900 | MT-ND4 | c.87C>T (p.Thr29=) | |
| MT | m.10847C>A | CA414807171 | MT-ND4 | c.88C>A (p.His30Asn) | |
| MT | m.10847C= | CA2573326859 | MT-ND4 | c.88C= (p.His30=) | |
| MT | m.10847C>G | CA414807174 | MT-ND4 | c.88C>G (p.His30Asp) | |
| MT | m.10847C>T | CA414807172 | MT-ND4 | c.88C>T (p.His30Tyr) | |
| MT | m.10848A= | CA2573326861 | MT-ND4 | c.89A= (p.His30=) | |
| MT | m.10848A>C | CA414807176 | MT-ND4 | c.89A>C (p.His30Pro) | |
| MT | m.10848A>G | CA414807178 | MT-ND4 | c.89A>G (p.His30Arg) | |
| MT | m.10848A>T | CA414807180 | MT-ND4 | c.89A>T (p.His30Leu) | |
| MT | m.10849C>A | CA414807182 | MT-ND4 | c.90C>A (p.His30Gln) | |
| MT | m.10849C= | CA2499566983 | MT-ND4 | c.90C= (p.His30=) | |
| MT | m.10849C>G | CA414807184 | MT-ND4 | c.90C>G (p.His30Gln) | |
| MT | m.10849C>T | CA913164914 | MT-ND4 | c.90C>T (p.His30=) | dbSNP |
| MT | m.10850A= | CA2573326866 | MT-ND4 | c.91A= (p.Ser31=) | |
| MT | m.10850A>C | CA414807186 | MT-ND4 | c.91A>C (p.Ser31Arg) | |
| MT | m.10850A>G | CA414807188 | MT-ND4 | c.91A>G (p.Ser31Gly) | |
| MT | m.10850A>T | CA414807189 | MT-ND4 | c.91A>T (p.Ser31Cys) | |
| MT | m.10851G>A | CA414807196 | MT-ND4 | c.92G>A (p.Ser31Asn) | |
| MT | m.10851G>C | CA414807194 | MT-ND4 | c.92G>C (p.Ser31Thr) | |
| MT | m.10851G= | CA2573326868 | MT-ND4 | c.92G= (p.Ser31=) | |
| MT | m.10851G>T | CA414807192 | MT-ND4 | c.92G>T (p.Ser31Ile) | |
| MT | m.10852C>A | CA414807198 | MT-ND4 | c.93C>A (p.Ser31Arg) | |
| MT | m.10852C= | CA2573326869 | MT-ND4 | c.93C= (p.Ser31=) | |
| MT | m.10852C>G | CA414807200 | MT-ND4 | c.93C>G (p.Ser31Arg) | |
| MT | m.10852C>T | CA913164926 | MT-ND4 | c.93C>T (p.Ser31=) | |
| MT | m.10853C>A | CA414807203 | MT-ND4 | c.94C>A (p.Leu32Ile) | |
| MT | m.10853C= | CA2499566989 | MT-ND4 | c.94C= (p.Leu32=) | |
| MT | m.10853C>G | CA414807204 | MT-ND4 | c.94C>G (p.Leu32Val) | |
| MT | m.10853C>T | CA913164933 | MT-ND4 | c.94C>T (p.Leu32=) | dbSNP |
| MT | m.10854T>A | CA414807207 | MT-ND4 | c.95T>A (p.Leu32Gln) | |
| MT | m.10854T>C | CA414807208 | MT-ND4 | c.95T>C (p.Leu32Pro) | |
| MT | m.10854T>G | CA414807210 | MT-ND4 | c.95T>G (p.Leu32Arg) | |
| MT | m.10854T= | CA2573326872 | MT-ND4 | c.95T= (p.Leu32=) | |
| MT | m.10855A= | CA2573326874 | MT-ND4 | c.96A= (p.Leu32=) | |
| MT | m.10855A>C | CA913164942 | MT-ND4 | c.96A>C (p.Leu32=) | |
| MT | m.10855A>G | CA913164941 | MT-ND4 | c.96A>G (p.Leu32=) | |
| MT | m.10855A>T | CA913164940 | MT-ND4 | c.96A>T (p.Leu32=) | |
| MT | m.10856A= | CA2573326876 | MT-ND4 | c.97A= (p.Ile33=) | |
| MT | m.10856A>C | CA414807213 | MT-ND4 | c.97A>C (p.Ile33Leu) | |
| MT | m.10856A>G | CA414807214 | MT-ND4 | c.97A>G (p.Ile33Val) | |
| MT | m.10856A>T | CA414807215 | MT-ND4 | c.97A>T (p.Ile33Phe) | |
| MT | m.10857T>A | CA414807221 | MT-ND4 | c.98T>A (p.Ile33Asn) | |
| MT | m.10857T>C | CA414807220 | MT-ND4 | c.98T>C (p.Ile33Thr) | ClinVar dbSNP |
| MT | m.10857T>G | CA414807218 | MT-ND4 | c.98T>G (p.Ile33Ser) | |
| MT | m.10857T= | CA2499566992 | MT-ND4 | c.98T= (p.Ile33=) | |
| MT | m.10858T>A | CA913164953 | MT-ND4 | c.99T>A (p.Ile33=) | |
| MT | m.10858T>C | CA913164954 | MT-ND4 | c.99T>C (p.Ile33=) | dbSNP |
| MT | m.10858T>G | CA414807224 | MT-ND4 | c.99T>G (p.Ile33Met) | |
| MT | m.10858T= | CA2499566993 | MT-ND4 | c.99T= (p.Ile33=) | |
| MT | m.10858_10863dup | CA2740098149 | MT-ND4 | c.99_104dup (p.Ser35_Ile36insIleSer) | |
| MT | m.10859A= | CA2573326879 | MT-ND4 | c.100A= (p.Ile34=) | |
| MT | m.10859A>C | CA414807226 | MT-ND4 | c.100A>C (p.Ile34Leu) | |
| MT | m.10859A>G | CA414807228 | MT-ND4 | c.100A>G (p.Ile34Val) | |
| MT | m.10859A>T | CA414807230 | MT-ND4 | c.100A>T (p.Ile34Phe) | |
| MT | m.10860T>A | CA414807233 | MT-ND4 | c.101T>A (p.Ile34Asn) | |
| MT | m.10860T>C | CA414807234 | MT-ND4 | c.101T>C (p.Ile34Thr) | |
| MT | m.10860T>G | CA414807236 | MT-ND4 | c.101T>G (p.Ile34Ser) | |
| MT | m.10860T= | CA2573326880 | MT-ND4 | c.101T= (p.Ile34=) | |
| MT | m.10861T>A | CA913164960 | MT-ND4 | c.102T>A (p.Ile34=) | |
| MT | m.10861T>C | CA913164964 | MT-ND4 | c.102T>C (p.Ile34=) | dbSNP |
| MT | m.10861T>G | CA414807238 | MT-ND4 | c.102T>G (p.Ile34Met) | |
| MT | m.10861T= | CA2499566995 | MT-ND4 | c.102T= (p.Ile34=) | |
| MT | m.10862A= | CA2573326884 | MT-ND4 | c.103A= (p.Ser35=) | |
| MT | m.10862A>C | CA414807240 | MT-ND4 | c.103A>C (p.Ser35Arg) | |
| MT | m.10862A>G | CA414807242 | MT-ND4 | c.103A>G (p.Ser35Gly) | |
| MT | m.10862A>T | CA414807244 | MT-ND4 | c.103A>T (p.Ser35Cys) | |
| MT | m.10863G>A | CA414807250 | MT-ND4 | c.104G>A (p.Ser35Asn) | ClinVar dbSNP |
| MT | m.10863G>C | CA414807248 | MT-ND4 | c.104G>C (p.Ser35Thr) | |
| MT | m.10863G= | CA2499566997 | MT-ND4 | c.104G= (p.Ser35=) | |
| MT | m.10863G>T | CA414807246 | MT-ND4 | c.104G>T (p.Ser35Ile) | |
| MT | m.10864C>A | CA414807252 | MT-ND4 | c.105C>A (p.Ser35Arg) | |
| MT | m.10864C= | CA2499566999 | MT-ND4 | c.105C= (p.Ser35=) | |
| MT | m.10864C>G | CA414807254 | MT-ND4 | c.105C>G (p.Ser35Arg) | |
| MT | m.10864C>T | CA913164982 | MT-ND4 | c.105C>T (p.Ser35=) | dbSNP |
| MT | m.10865A= | CA2499567001 | MT-ND4 | c.106A= (p.Ile36=) | |
| MT | m.10865A>C | CA414807256 | MT-ND4 | c.106A>C (p.Ile36Leu) | |
| MT | m.10865A>G | CA414807258 | MT-ND4 | c.106A>G (p.Ile36Val) | dbSNP |
| MT | m.10865A>T | CA414807260 | MT-ND4 | c.106A>T (p.Ile36Phe) | |
| MT | m.10866T>A | CA414807262 | MT-ND4 | c.107T>A (p.Ile36Asn) | |
| MT | m.10866T>C | CA414807264 | MT-ND4 | c.107T>C (p.Ile36Thr) | dbSNP |
| MT | m.10866T>G | CA414807266 | MT-ND4 | c.107T>G (p.Ile36Ser) | |
| MT | m.10866T= | CA2499567002 | MT-ND4 | c.107T= (p.Ile36=) | |
| MT | m.10867C>A | CA913164993 | MT-ND4 | c.108C>A (p.Ile36=) | |
| MT | m.10867C= | CA2499567004 | MT-ND4 | c.108C= (p.Ile36=) | |
| MT | m.10867C>G | CA414807268 | MT-ND4 | c.108C>G (p.Ile36Met) | |
| MT | m.10867C>T | CA913164991 | MT-ND4 | c.108C>T (p.Ile36=) | dbSNP |
| MT | m.10868A= | CA2573326894 | MT-ND4 | c.109A= (p.Ile37=) | |
| MT | m.10868A>C | CA414807270 | MT-ND4 | c.109A>C (p.Ile37Leu) | |
| MT | m.10868A>G | CA414807272 | MT-ND4 | c.109A>G (p.Ile37Val) | |
| MT | m.10868A>T | CA414807274 | MT-ND4 | c.109A>T (p.Ile37Phe) | |
| MT | m.10869T>A | CA414807281 | MT-ND4 | c.110T>A (p.Ile37Asn) | |
| MT | m.10869T>C | CA414807276 | MT-ND4 | c.110T>C (p.Ile37Thr) | COSMIC |
| MT | m.10869T>G | CA414807279 | MT-ND4 | c.110T>G (p.Ile37Ser) | |
| MT | m.10869T= | CA2573326896 | MT-ND4 | c.110T= (p.Ile37=) | |
| MT | m.10870C>A | CA913165006 | MT-ND4 | c.111C>A (p.Ile37=) | |
| MT | m.10870C= | CA2573326898 | MT-ND4 | c.111C= (p.Ile37=) | |
| MT | m.10870C>G | CA414807283 | MT-ND4 | c.111C>G (p.Ile37Met) | |
| MT | m.10870C>T | CA913165010 | MT-ND4 | c.111C>T (p.Ile37=) | |
| MT | m.10871C>A | CA414807285 | MT-ND4 | c.112C>A (p.Pro38Thr) | |
| MT | m.10871C= | CA2573326900 | MT-ND4 | c.112C= (p.Pro38=) | |
| MT | m.10871C>G | CA414807287 | MT-ND4 | c.112C>G (p.Pro38Ala) | |
| MT | m.10871C>T | CA414807289 | MT-ND4 | c.112C>T (p.Pro38Ser) | |
| MT | m.10872C>A | CA414807291 | MT-ND4 | c.113C>A (p.Pro38His) | |
| MT | m.10872C= | CA2573326902 | MT-ND4 | c.113C= (p.Pro38=) | |
| MT | m.10872C>G | CA414807293 | MT-ND4 | c.113C>G (p.Pro38Arg) | |
| MT | m.10872C>T | CA414807295 | MT-ND4 | c.113C>T (p.Pro38Leu) | |
| MT | m.10873del | CA2573105074 | MT-ND4 | c.114del (p.Leu39TyrfsTer23) | |
| MT | m.10873T>A | CA913165016 | MT-ND4 | c.114T>A (p.Pro38=) | |
| MT | m.10873T>C | CA337099036 | MT-ND4 | c.114T>C (p.Pro38=) | dbSNP |
| MT | m.10873T>G | CA913165021 | MT-ND4 | c.114T>G (p.Pro38=) | |
| MT | m.10873T= | CA2499567005 | MT-ND4 | c.114T= (p.Pro38=) | |
| MT | m.10874C>A | CA414807299 | MT-ND4 | c.115C>A (p.Leu39Ile) | |
| MT | m.10874C= | CA2499567007 | MT-ND4 | c.115C= (p.Leu39=) | |
| MT | m.10874C>G | CA414807301 | MT-ND4 | c.115C>G (p.Leu39Val) | |
| MT | m.10874C>T | CA913165024 | MT-ND4 | c.115C>T (p.Leu39=) | dbSNP |
| MT | m.10875T>A | CA414807306 | MT-ND4 | c.116T>A (p.Leu39Gln) | |
| MT | m.10875T>C | CA414807308 | MT-ND4 | c.116T>C (p.Leu39Pro) | |
| MT | m.10875T>G | CA414807305 | MT-ND4 | c.116T>G (p.Leu39Arg) | |
| MT | m.10875T= | CA2573326908 | MT-ND4 | c.116T= (p.Leu39=) | |
| MT | m.10875_10876del | CA2573105075 | MT-ND4 | c.116_117del (p.Leu39ProfsTer4) | |
| MT | m.10876A= | CA2499567008 | MT-ND4 | c.117A= (p.Leu39=) | |
| MT | m.10876A>C | CA913165039 | MT-ND4 | c.117A>C (p.Leu39=) | |
| MT | m.10876A>G | CA337099038 | MT-ND4 | c.117A>G (p.Leu39=) | dbSNP |
| MT | m.10876A>T | CA913165043 | MT-ND4 | c.117A>T (p.Leu39=) | |
| MT | m.10877C>A | CA414807313 | MT-ND4 | c.118C>A (p.Leu40Ile) | |
| MT | m.10877C= | CA2499567010 | MT-ND4 | c.118C= (p.Leu40=) | |
| MT | m.10877C>G | CA414807314 | MT-ND4 | c.118C>G (p.Leu40Val) | |
| MT | m.10877C>T | CA913165046 | MT-ND4 | c.118C>T (p.Leu40=) | dbSNP |
| MT | m.10878T>A | CA414807317 | MT-ND4 | c.119T>A (p.Leu40Gln) | |
| MT | m.10878T>C | CA414807319 | MT-ND4 | c.119T>C (p.Leu40Pro) | |
| MT | m.10878T>G | CA414807320 | MT-ND4 | c.119T>G (p.Leu40Arg) | |
| MT | m.10878T= | CA2573326913 | MT-ND4 | c.119T= (p.Leu40=) | |
| MT | m.10879A= | CA2573326916 | MT-ND4 | c.120A= (p.Leu40=) | |
| MT | m.10879A>C | CA913165051 | MT-ND4 | c.120A>C (p.Leu40=) | |
| MT | m.10879A>G | CA913165054 | MT-ND4 | c.120A>G (p.Leu40=) | |
| MT | m.10879A>T | CA913165059 | MT-ND4 | c.120A>T (p.Leu40=) | |
| MT | m.10880T>A | CA414807323 | MT-ND4 | c.121T>A (p.Phe41Ile) | |
| MT | m.10880T>C | CA414807325 | MT-ND4 | c.121T>C (p.Phe41Leu) | |
| MT | m.10880T>G | CA414807326 | MT-ND4 | c.121T>G (p.Phe41Val) | |
| MT | m.10880T= | CA2573326919 | MT-ND4 | c.121T= (p.Phe41=) | |
| MT | m.10885del | CA2573105076 | MT-ND4 | c.126del (p.Phe42LeufsTer20) | |
| MT | m.10881T>A | CA414807329 | MT-ND4 | c.122T>A (p.Phe41Tyr) | |
| MT | m.10881T>C | CA414807331 | MT-ND4 | c.122T>C (p.Phe41Ser) | dbSNP |
| MT | m.10881T>G | CA414807332 | MT-ND4 | c.122T>G (p.Phe41Cys) | |
| MT | m.10881T= | CA2499567011 | MT-ND4 | c.122T= (p.Phe41=) |