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.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | 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.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.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.13008A= | CA2499567820 | MT-ND5 | c.672A= (p.Ser224=) | |
| MT | m.13008A>C | CA913170677 | MT-ND5 | c.672A>C (p.Ser224=) | |
| MT | m.13008A>G | CA913170678 | MT-ND5 | c.672A>G (p.Ser224=) | dbSNP |
| MT | m.13008A>T | CA913170679 | MT-ND5 | c.672A>T (p.Ser224=) | |
| MT | m.13009G>A | CA414815888 | MT-ND5 | c.673G>A (p.Ala225Thr) | |
| MT | m.13009G>C | CA414815889 | MT-ND5 | c.673G>C (p.Ala225Pro) | |
| MT | m.13009G= | CA2573322632 | MT-ND5 | c.673G= (p.Ala225=) | |
| MT | m.13009G>T | CA414815891 | MT-ND5 | c.673G>T (p.Ala225Ser) | |
| MT | m.13010C>A | CA414815893 | MT-ND5 | c.674C>A (p.Ala225Asp) | |
| MT | m.13010C= | CA2573322636 | MT-ND5 | c.674C= (p.Ala225=) | |
| MT | m.13010C>G | CA414815895 | MT-ND5 | c.674C>G (p.Ala225Gly) | |
| MT | m.13010C>T | CA414815897 | MT-ND5 | c.674C>T (p.Ala225Val) | |
| MT | m.13011_13012del | CA2573105245 | MT-ND5 | c.675_676del (p.Gln226IlefsTer?) | |
| MT | m.13011C>A | CA913170680 | MT-ND5 | c.675C>A (p.Ala225=) | |
| MT | m.13011C= | CA2499567821 | MT-ND5 | c.675C= (p.Ala225=) | |
| MT | m.13011C>G | CA913170681 | MT-ND5 | c.675C>G (p.Ala225=) | |
| MT | m.13011C>T | CA913170682 | MT-ND5 | c.675C>T (p.Ala225=) | dbSNP |
| MT | m.13012C>A | CA414815899 | MT-ND5 | c.676C>A (p.Gln226Lys) | |
| MT | m.13012C= | CA2573322646 | MT-ND5 | c.676C= (p.Gln226=) | |
| MT | m.13012C>G | CA414815901 | MT-ND5 | c.676C>G (p.Gln226Glu) | |
| MT | m.13012C>T | CA414815903 | MT-ND5 | c.676C>T (p.Gln226Ter) | |
| MT | m.13013A= | CA2573322648 | MT-ND5 | c.677A= (p.Gln226=) | |
| MT | m.13013A>C | CA414815910 | MT-ND5 | c.677A>C (p.Gln226Pro) | |
| MT | m.13013A>G | CA414815907 | MT-ND5 | c.677A>G (p.Gln226Arg) | |
| MT | m.13013A>T | CA414815905 | MT-ND5 | c.677A>T (p.Gln226Leu) | |
| MT | m.13014A= | CA2573322657 | MT-ND5 | c.678A= (p.Gln226=) | |
| MT | m.13014A>C | CA414815914 | MT-ND5 | c.678A>C (p.Gln226His) | |
| MT | m.13014A>G | CA913170683 | MT-ND5 | c.678A>G (p.Gln226=) | |
| MT | m.13014A>T | CA414815912 | MT-ND5 | c.678A>T (p.Gln226His) | |
| MT | m.13015T>A | CA414815916 | MT-ND5 | c.679T>A (p.Leu227Ile) | |
| MT | m.13015T>C | CA913170684 | MT-ND5 | c.679T>C (p.Leu227=) | dbSNP |
| MT | m.13015T>G | CA414815918 | MT-ND5 | c.679T>G (p.Leu227Val) | |
| MT | m.13015T= | CA2499567822 | MT-ND5 | c.679T= (p.Leu227=) | |
| MT | m.13016T>A | CA414815920 | MT-ND5 | c.680T>A (p.Leu227Ter) | |
| MT | m.13016T>C | CA414815922 | MT-ND5 | c.680T>C (p.Leu227Ser) | |
| MT | m.13016T>G | CA414815924 | MT-ND5 | c.680T>G (p.Leu227Ter) | |
| MT | m.13016T= | CA2573322666 | MT-ND5 | c.680T= (p.Leu227=) | |
| MT | m.13017A= | CA2499567823 | MT-ND5 | c.681A= (p.Leu227=) | |
| MT | m.13017A>C | CA414815926 | MT-ND5 | c.681A>C (p.Leu227Phe) | |
| MT | m.13017A>G | CA913170685 | MT-ND5 | c.681A>G (p.Leu227=) | dbSNP |
| MT | m.13017A>T | CA414815928 | MT-ND5 | c.681A>T (p.Leu227Phe) | |
| MT | m.13018G>A | CA414815931 | MT-ND5 | c.682G>A (p.Gly228Ser) | dbSNP |
| MT | m.13018G>C | CA414815932 | MT-ND5 | c.682G>C (p.Gly228Arg) | |
| MT | m.13018G= | CA2499567824 | MT-ND5 | c.682G= (p.Gly228=) | |
| MT | m.13018G>T | CA414815933 | MT-ND5 | c.682G>T (p.Gly228Cys) | |
| MT | m.13019G>A | CA414815940 | MT-ND5 | c.683G>A (p.Gly228Asp) | dbSNP |
| MT | m.13019G>C | CA414815938 | MT-ND5 | c.683G>C (p.Gly228Ala) | |
| MT | m.13019G= | CA2499567825 | MT-ND5 | c.683G= (p.Gly228=) | |
| MT | m.13019G>T | CA414815937 | MT-ND5 | c.683G>T (p.Gly228Val) | |
| MT | m.13020T>A | CA337099596 | MT-ND5 | c.684T>A (p.Gly228=) | dbSNP |
| MT | m.13020T>C | CA337099599 | MT-ND5 | c.684T>C (p.Gly228=) | dbSNP |
| MT | m.13020T>G | CA337099601 | MT-ND5 | c.684T>G (p.Gly228=) | |
| MT | m.13020T= | CA2499567826 | MT-ND5 | c.684T= (p.Gly228=) | |
| MT | m.13021C>A | CA414815947 | MT-ND5 | c.685C>A (p.Leu229Ile) | |
| MT | m.13021C= | CA2573322695 | MT-ND5 | c.685C= (p.Leu229=) | |
| MT | m.13021C>G | CA414815949 | MT-ND5 | c.685C>G (p.Leu229Val) | |
| MT | m.13021C>T | CA414815951 | MT-ND5 | c.685C>T (p.Leu229Phe) | |
| MT | m.13022T>A | CA414815953 | MT-ND5 | c.686T>A (p.Leu229His) | |
| MT | m.13022T>C | CA414815955 | MT-ND5 | c.686T>C (p.Leu229Pro) | |
| MT | m.13022T>G | CA414815957 | MT-ND5 | c.686T>G (p.Leu229Arg) | |
| MT | m.13022T= | CA2573322698 | MT-ND5 | c.686T= (p.Leu229=) | |
| MT | m.13023C>A | CA913170686 | MT-ND5 | c.687C>A (p.Leu229=) | |
| MT | m.13023C= | CA2573322709 | MT-ND5 | c.687C= (p.Leu229=) | |
| MT | m.13023C>G | CA913170687 | MT-ND5 | c.687C>G (p.Leu229=) | |
| MT | m.13023C>T | CA913170688 | MT-ND5 | c.687C>T (p.Leu229=) | |
| MT | m.13024C>A | CA414815959 | MT-ND5 | c.688C>A (p.His230Asn) | |
| MT | m.13024C= | CA2573322716 | MT-ND5 | c.688C= (p.His230=) | |
| MT | m.13024C>G | CA414815961 | MT-ND5 | c.688C>G (p.His230Asp) | |
| MT | m.13024C>T | CA414815963 | MT-ND5 | c.688C>T (p.His230Tyr) | |
| MT | m.13025A= | CA2499567827 | MT-ND5 | c.689A= (p.His230=) | |
| MT | m.13025A>C | CA414815967 | MT-ND5 | c.689A>C (p.His230Pro) | |
| MT | m.13025A>G | CA414815969 | MT-ND5 | c.689A>G (p.His230Arg) | dbSNP |
| MT | m.13025A>T | CA414815965 | MT-ND5 | c.689A>T (p.His230Leu) | |
| MT | m.13026C>A | CA414815971 | MT-ND5 | c.690C>A (p.His230Gln) | |
| MT | m.13026C= | CA2499567828 | MT-ND5 | c.690C= (p.His230=) | |
| MT | m.13026C>G | CA414815973 | MT-ND5 | c.690C>G (p.His230Gln) | |
| MT | m.13026C>T | CA913170689 | MT-ND5 | c.690C>T (p.His230=) | dbSNP |
| MT | m.13027C>A | CA414815975 | MT-ND5 | c.691C>A (p.Pro231Thr) | ClinVar dbSNP |
| MT | m.13027C= | CA2499567829 | MT-ND5 | c.691C= (p.Pro231=) | |
| MT | m.13027C>G | CA414815977 | MT-ND5 | c.691C>G (p.Pro231Ala) | |
| MT | m.13027C>T | CA414815979 | MT-ND5 | c.691C>T (p.Pro231Ser) | |
| MT | m.13027_13028insACTTTCGTTTATTGCTAAAGGTTAATCACTGCTGTTT | CA2573105246 | MT-ND5 | c.691_692insACTTTCGTTTATTGCTAAAGGTTAATCACTGCTGTTT (p.Pro231HisfsTer?) | |
| MT | m.13028C>A | CA414815981 | MT-ND5 | c.692C>A (p.Pro231His) | |
| MT | m.13028C= | CA2573322743 | MT-ND5 | c.692C= (p.Pro231=) | |
| MT | m.13028C>G | CA414815983 | MT-ND5 | c.692C>G (p.Pro231Arg) | |
| MT | m.13028C>T | CA414815985 | MT-ND5 | c.692C>T (p.Pro231Leu) | |
| MT | m.13029C>A | CA913170691 | MT-ND5 | c.693C>A (p.Pro231=) | |
| MT | m.13029C= | CA2499567830 | MT-ND5 | c.693C= (p.Pro231=) | |
| MT | m.13029C>G | CA913170690 | MT-ND5 | c.693C>G (p.Pro231=) | |
| MT | m.13029C>T | CA337099602 | MT-ND5 | c.693C>T (p.Pro231=) | dbSNP |
| MT | m.13029_13030insCGTGGGGGTGTGGCTAGGCTAAGCGTTTTGAGCTGCATTGCTGCG | CA2573105247 | MT-ND5 | c.693_694insCGTGGGGGTGTGGCTAGGCTAAGCGTTTTGAGCTGCATTGCTGCG (p.Pro231_Ter232insArgGlyGlyValAlaArgLeuSerValLeuSerCysIleAlaAla) | |
| MT | m.13030T>A | CA414815989 | MT-ND5 | c.694T>A (p.Ter232Arg) | |
| MT | m.13030T>C | CA414815990 | MT-ND5 | c.694T>C (p.Ter232Arg) | |
| MT | m.13030T>G | CA414815992 | MT-ND5 | c.694T>G (p.Ter232Gly) | |
| MT | m.13030T= | CA414815994 | MT-ND5 | c.694T= (p.Ter232=) | |
| MT | m.13031G>A | CA414816002 | MT-ND5 | c.695G>A (p.Ter232=) | COSMIC |
| MT | m.13031G>C | CA414815997 | MT-ND5 | c.695G>C (p.Ter232Ser) | |
| MT | m.13031G= | CA414816000 | MT-ND5 | c.695G= (p.Ter232=) | |
| MT | m.13031G>T | CA414815999 | MT-ND5 | c.695G>T (p.Ter232Leu) | |
| MT | m.13032A= | CA414816005 | MT-ND5 | c.696A= (p.Ter232=) | |
| MT | m.13032A>C | CA337099604 | MT-ND5 | c.696A>C (p.Ter232Cys) | |
| MT | m.13032A>G | CA414816008 | MT-ND5 | c.696A>G (p.Ter232Trp) | dbSNP |
| MT | m.13032A>T | CA337099606 | MT-ND5 | c.696A>T (p.Ter232Cys) | |
| MT | m.13033C>A | CA414816011 | MT-ND5 | c.697C>A (p.Leu233Ile) | |
| MT | m.13033C= | CA2573322761 | MT-ND5 | c.697C= (p.Leu233=) | |
| MT | m.13033C>G | CA414816013 | MT-ND5 | c.697C>G (p.Leu233Val) | |
| MT | m.13033C>T | CA414816015 | MT-ND5 | c.697C>T (p.Leu233Phe) | |
| MT | m.13034T>A | CA414816017 | MT-ND5 | c.698T>A (p.Leu233His) | |
| MT | m.13034T>C | CA414816019 | MT-ND5 | c.698T>C (p.Leu233Pro) | dbSNP |
| MT | m.13034T>G | CA414816021 | MT-ND5 | c.698T>G (p.Leu233Arg) | |
| MT | m.13034T= | CA2573322764 | MT-ND5 | c.698T= (p.Leu233=) | |
| MT | m.13035C>A | CA913170692 | MT-ND5 | c.699C>A (p.Leu233=) | dbSNP |
| MT | m.13035C= | CA2499567831 | MT-ND5 | c.699C= (p.Leu233=) | |
| MT | m.13035C>G | CA913170693 | MT-ND5 | c.699C>G (p.Leu233=) | |
| MT | m.13035C>T | CA913170694 | MT-ND5 | c.699C>T (p.Leu233=) | dbSNP |
| MT | m.13036C>A | CA414816024 | MT-ND5 | c.700C>A (p.Pro234Thr) | |
| MT | m.13036C= | CA2573322774 | MT-ND5 | c.700C= (p.Pro234=) | |
| MT | m.13036C>G | CA414816027 | MT-ND5 | c.700C>G (p.Pro234Ala) | |
| MT | m.13036C>T | CA414816025 | MT-ND5 | c.700C>T (p.Pro234Ser) | |
| MT | m.13037C>A | CA414816031 | MT-ND5 | c.701C>A (p.Pro234His) | |
| MT | m.13037C= | CA2573322779 | MT-ND5 | c.701C= (p.Pro234=) | |
| MT | m.13037C>G | CA414816032 | MT-ND5 | c.701C>G (p.Pro234Arg) | |
| MT | m.13037C>T | CA414816033 | MT-ND5 | c.701C>T (p.Pro234Leu) | |
| MT | m.13038C>A | CA913170695 | MT-ND5 | c.702C>A (p.Pro234=) | |
| MT | m.13038C= | CA2573322784 | MT-ND5 | c.702C= (p.Pro234=) | |
| MT | m.13038C>G | CA913170696 | MT-ND5 | c.702C>G (p.Pro234=) | |
| MT | m.13038C>T | CA913170697 | MT-ND5 | c.702C>T (p.Pro234=) | dbSNP |
| MT | m.13039T>A | CA414816036 | MT-ND5 | c.703T>A (p.Ser235Thr) | |
| MT | m.13039T>C | CA414816038 | MT-ND5 | c.703T>C (p.Ser235Pro) | |
| MT | m.13039T>G | CA414816039 | MT-ND5 | c.703T>G (p.Ser235Ala) | |
| MT | m.13039T= | CA2573322795 | MT-ND5 | c.703T= (p.Ser235=) | |
| MT | m.13040C>A | CA414816042 | MT-ND5 | c.704C>A (p.Ser235Ter) | |
| MT | m.13040C= | CA2573322801 | MT-ND5 | c.704C= (p.Ser235=) | |
| MT | m.13040C>G | CA414816044 | MT-ND5 | c.704C>G (p.Ser235Ter) | |
| MT | m.13040C>T | CA414816046 | MT-ND5 | c.704C>T (p.Ser235Leu) | |
| MT | m.13041A= | CA2499567832 | MT-ND5 | c.705A= (p.Ser235=) | |
| MT | m.13041A>C | CA913170698 | MT-ND5 | c.705A>C (p.Ser235=) | |
| MT | m.13041A>G | CA337099608 | MT-ND5 | c.705A>G (p.Ser235=) | dbSNP |
| MT | m.13041A>T | CA913170699 | MT-ND5 | c.705A>T (p.Ser235=) | dbSNP |
| MT | m.13042G>A | CA120633 | MT-ND5 | c.706G>A (p.Ala236Thr) | ClinVar dbSNP COSMIC |
| MT | m.13042G>C | CA414816052 | MT-ND5 | c.706G>C (p.Ala236Pro) | |
| MT | m.13042G= | CA2499567833 | MT-ND5 | c.706G= (p.Ala236=) | |
| MT | m.13042G>T | CA414816050 | MT-ND5 | c.706G>T (p.Ala236Ser) | |
| MT | m.13043C>A | CA414816056 | MT-ND5 | c.707C>A (p.Ala236Asp) | |
| MT | m.13043C= | CA2573322830 | MT-ND5 | c.707C= (p.Ala236=) | |
| MT | m.13043C>G | CA414816057 | MT-ND5 | c.707C>G (p.Ala236Gly) | |
| MT | m.13043C>T | CA414816059 | MT-ND5 | c.707C>T (p.Ala236Val) | |
| MT | m.13044C>A | CA337099611 | MT-ND5 | c.708C>A (p.Ala236=) | dbSNP |
| MT | m.13044C= | CA2499567834 | MT-ND5 | c.708C= (p.Ala236=) | |
| MT | m.13044C>G | CA913170700 | MT-ND5 | c.708C>G (p.Ala236=) | |
| MT | m.13044C>T | CA913170701 | MT-ND5 | c.708C>T (p.Ala236=) | dbSNP |
| MT | m.13045A= | CA2499567835 | MT-ND5 | c.709A= (p.Ile237=) | |
| MT | m.13045A>C | CA120629 | MT-ND5 | c.709A>C (p.Ile237Leu) | ClinVar dbSNP |
| MT | m.13045A>G | CA414816064 | MT-ND5 | c.709A>G (p.Ile237Val) | |
| MT | m.13045A>T | CA414816066 | MT-ND5 | c.709A>T (p.Ile237Leu) | |
| MT | m.13046T>A | CA414816068 | MT-ND5 | c.710T>A (p.Ile237Lys) | |
| MT | m.13046T>C | CA414816070 | MT-ND5 | c.710T>C (p.Ile237Thr) | ClinVar dbSNP |
| MT | m.13046T>G | CA414816071 | MT-ND5 | c.710T>G (p.Ile237Arg) | |
| MT | m.13046T= | CA2499567836 | MT-ND5 | c.710T= (p.Ile237=) | |
| MT | m.13047A= | CA2573322864 | MT-ND5 | c.711A= (p.Ile237=) | |
| MT | m.13047A>C | CA913170702 | MT-ND5 | c.711A>C (p.Ile237=) | |
| MT | m.13047A>G | CA414816074 | MT-ND5 | c.711A>G (p.Ile237Met) | |
| MT | m.13047A>T | CA913170703 | MT-ND5 | c.711A>T (p.Ile237=) | |
| MT | m.13048G>A | CA414816080 | MT-ND5 | c.712G>A (p.Glu238Lys) | |
| MT | m.13048G>C | CA414816079 | MT-ND5 | c.712G>C (p.Glu238Gln) | |
| MT | m.13048G= | CA2573322870 | MT-ND5 | c.712G= (p.Glu238=) | |
| MT | m.13048G>T | CA414816076 | MT-ND5 | c.712G>T (p.Glu238Ter) | |
| MT | m.13049A= | CA2573322875 | MT-ND5 | c.713A= (p.Glu238=) | |
| MT | m.13049A>C | CA414816083 | MT-ND5 | c.713A>C (p.Glu238Ala) | |
| MT | m.13049A>G | CA414816086 | MT-ND5 | c.713A>G (p.Glu238Gly) | |
| MT | m.13049A>T | CA414816085 | MT-ND5 | c.713A>T (p.Glu238Val) | |
| MT | m.13050A= | CA2499567837 | MT-ND5 | c.714A= (p.Glu238=) | |
| MT | m.13050A>C | CA414816089 | MT-ND5 | c.714A>C (p.Glu238Asp) | |
| MT | m.13050A>G | CA913170704 | MT-ND5 | c.714A>G (p.Glu238=) | dbSNP |
| MT | m.13050A>T | CA414816091 | MT-ND5 | c.714A>T (p.Glu238Asp) | |
| MT | m.13051G>A | CA414816093 | MT-ND5 | c.715G>A (p.Gly239Ser) | ClinVar dbSNP |
| MT | m.13051G>C | CA414816095 | MT-ND5 | c.715G>C (p.Gly239Arg) | |
| MT | m.13051G= | CA2499567838 | MT-ND5 | c.715G= (p.Gly239=) | |
| MT | m.13051G>T | CA414816097 | MT-ND5 | c.715G>T (p.Gly239Cys) | |
| MT | m.13052G>A | CA414816103 | MT-ND5 | c.716G>A (p.Gly239Asp) | dbSNP COSMIC |
| MT | m.13052G>C | CA414816102 | MT-ND5 | c.716G>C (p.Gly239Ala) | |
| MT | m.13052G= | CA2499567839 | MT-ND5 | c.716G= (p.Gly239=) | |
| MT | m.13052G>T | CA414816100 | MT-ND5 | c.716G>T (p.Gly239Val) | |
| MT | m.13053C>A | CA913170707 | MT-ND5 | c.717C>A (p.Gly239=) | |
| MT | m.13053C= | CA2573322878 | MT-ND5 | c.717C= (p.Gly239=) | |
| MT | m.13053C>G | CA913170706 | MT-ND5 | c.717C>G (p.Gly239=) | |
| MT | m.13053C>T | CA913170705 | MT-ND5 | c.717C>T (p.Gly239=) | |
| MT | m.13056_13057insCCCCCCCCCCCC | CA2573105248 | MT-ND5 | c.720_721insCCCCCCCCCCCC (p.Pro240_Thr241insProProProPro) | |
| MT | m.13054C>A | CA414816106 | MT-ND5 | c.718C>A (p.Pro240Thr) | |
| MT | m.13054C= | CA2573322879 | MT-ND5 | c.718C= (p.Pro240=) | |
| MT | m.13054C>G | CA414816108 | MT-ND5 | c.718C>G (p.Pro240Ala) | |
| MT | m.13054C>T | CA414816110 | MT-ND5 | c.718C>T (p.Pro240Ser) | |
| MT | m.13055C>A | CA414816459 | MT-ND5 | c.719C>A (p.Pro240His) | |
| MT | m.13055C= | CA2573322880 | MT-ND5 | c.719C= (p.Pro240=) | |
| MT | m.13055C>G | CA414816460 | MT-ND5 | c.719C>G (p.Pro240Arg) | |
| MT | m.13055C>T | CA414816461 | MT-ND5 | c.719C>T (p.Pro240Leu) | |
| MT | m.13056C>A | CA913170708 | MT-ND5 | c.720C>A (p.Pro240=) | |
| MT | m.13056C= | CA2499567840 | MT-ND5 | c.720C= (p.Pro240=) | |
| MT | m.13056C>G | CA913170709 | MT-ND5 | c.720C>G (p.Pro240=) | |
| MT | m.13056C>T | CA913170710 | MT-ND5 | c.720C>T (p.Pro240=) | dbSNP |
| MT | m.13057A= | CA2573322882 | MT-ND5 | c.721A= (p.Thr241=) | |
| MT | m.13057A>C | CA414816462 | MT-ND5 | c.721A>C (p.Thr241Pro) | |
| MT | m.13057A>G | CA414816464 | MT-ND5 | c.721A>G (p.Thr241Ala) | |
| MT | m.13057A>T | CA414816463 | MT-ND5 | c.721A>T (p.Thr241Ser) | |
| MT | m.13058C>A | CA414816465 | MT-ND5 | c.722C>A (p.Thr241Asn) | |
| MT | m.13058C= | CA2573322884 | MT-ND5 | c.722C= (p.Thr241=) | |
| MT | m.13058C>G | CA414816466 | MT-ND5 | c.722C>G (p.Thr241Ser) | |
| MT | m.13058C>T | CA414816467 | MT-ND5 | c.722C>T (p.Thr241Ile) | |
| MT | m.13061del | CA645611415 | MT-ND5 | c.725del (p.Pro242GlnfsTer11) | COSMIC |
| MT | m.13059C>A | CA913170711 | MT-ND5 | c.723C>A (p.Thr241=) | |
| MT | m.13059C= | CA2573322886 | MT-ND5 | c.723C= (p.Thr241=) | |
| MT | m.13059C>G | CA913170712 | MT-ND5 | c.723C>G (p.Thr241=) | |
| MT | m.13059C>T | CA913170713 | MT-ND5 | c.723C>T (p.Thr241=) | |
| MT | m.13060C>A | CA414816468 | MT-ND5 | c.724C>A (p.Pro242Thr) | |
| MT | m.13060C= | CA2573322888 | MT-ND5 | c.724C= (p.Pro242=) | |
| MT | m.13060C>G | CA414816469 | MT-ND5 | c.724C>G (p.Pro242Ala) | |
| MT | m.13060C>T | CA414816470 | MT-ND5 | c.724C>T (p.Pro242Ser) | |
| MT | m.13061C>A | CA414816471 | MT-ND5 | c.725C>A (p.Pro242Gln) | |
| MT | m.13061C= | CA2573322889 | MT-ND5 | c.725C= (p.Pro242=) | |
| MT | m.13061C>G | CA414816472 | MT-ND5 | c.725C>G (p.Pro242Arg) | |
| MT | m.13061C>T | CA414816473 | MT-ND5 | c.725C>T (p.Pro242Leu) | |
| MT | m.13062A= | CA2499567841 | MT-ND5 | c.726A= (p.Pro242=) | |
| MT | m.13062A>C | CA913170714 | MT-ND5 | c.726A>C (p.Pro242=) | |
| MT | m.13062A>G | CA337099613 | MT-ND5 | c.726A>G (p.Pro242=) | dbSNP |
| MT | m.13062A>T | CA913170715 | MT-ND5 | c.726A>T (p.Pro242=) | |
| MT | m.13063G>A | CA414816476 | MT-ND5 | c.727G>A (p.Val243Ile) | ClinVar dbSNP COSMIC |
| MT | m.13063G>C | CA414816474 | MT-ND5 | c.727G>C (p.Val243Leu) | |
| MT | m.13063G= | CA2499567842 | MT-ND5 | c.727G= (p.Val243=) | |
| MT | m.13063G>T | CA414816475 | MT-ND5 | c.727G>T (p.Val243Phe) | |
| MT | m.13064T>A | CA414816477 | MT-ND5 | c.728T>A (p.Val243Asp) | |
| MT | m.13064T>C | CA414816478 | MT-ND5 | c.728T>C (p.Val243Ala) | ClinVar dbSNP |
| MT | m.13064T>G | CA414816479 | MT-ND5 | c.728T>G (p.Val243Gly) | |
| MT | m.13064T= | CA2499567843 | MT-ND5 | c.728T= (p.Val243=) | |
| MT | m.13065C>A | CA913170716 | MT-ND5 | c.729C>A (p.Val243=) | |
| MT | m.13065C= | CA2499567844 | MT-ND5 | c.729C= (p.Val243=) | |
| MT | m.13065C>G | CA337099615 | MT-ND5 | c.729C>G (p.Val243=) | |
| MT | m.13065C>T | CA337099617 | MT-ND5 | c.729C>T (p.Val243=) | dbSNP |
| MT | m.13066T>A | CA414816480 | MT-ND5 | c.730T>A (p.Ser244Thr) | |
| MT | m.13066T>C | CA414816481 | MT-ND5 | c.730T>C (p.Ser244Pro) | |
| MT | m.13066T>G | CA414816482 | MT-ND5 | c.730T>G (p.Ser244Ala) | |
| MT | m.13066T= | CA2573322923 | MT-ND5 | c.730T= (p.Ser244=) | |
| MT | m.13067C>A | CA414816483 | MT-ND5 | c.731C>A (p.Ser244Ter) | |
| MT | m.13067C= | CA2573322929 | MT-ND5 | c.731C= (p.Ser244=) | |
| MT | m.13067C>G | CA414816484 | MT-ND5 | c.731C>G (p.Ser244Ter) | |
| MT | m.13067C>T | CA414816485 | MT-ND5 | c.731C>T (p.Ser244Leu) | |
| MT | m.13068A= | CA2499567845 | MT-ND5 | c.732A= (p.Ser244=) | |
| MT | m.13068A>C | CA913170717 | MT-ND5 | c.732A>C (p.Ser244=) | |
| MT | m.13068A>G | CA913170718 | MT-ND5 | c.732A>G (p.Ser244=) | dbSNP |
| MT | m.13068A>T | CA913170719 | MT-ND5 | c.732A>T (p.Ser244=) | |
| MT | m.13069G>A | CA414816488 | MT-ND5 | c.733G>A (p.Ala245Thr) | dbSNP COSMIC |
| MT | m.13069G>C | CA414816487 | MT-ND5 | c.733G>C (p.Ala245Pro) | |
| MT | m.13069G= | CA2499567846 | MT-ND5 | c.733G= (p.Ala245=) | |
| MT | m.13069G>T | CA414816486 | MT-ND5 | c.733G>T (p.Ala245Ser) | |
| MT | m.13070C>A | CA414816489 | MT-ND5 | c.734C>A (p.Ala245Asp) | |
| MT | m.13070C= | CA2573322945 | MT-ND5 | c.734C= (p.Ala245=) | |
| MT | m.13070C>G | CA414816490 | MT-ND5 | c.734C>G (p.Ala245Gly) | |
| MT | m.13070C>T | CA414816491 | MT-ND5 | c.734C>T (p.Ala245Val) | |
| MT | m.13071C>A | CA337099619 | MT-ND5 | c.735C>A (p.Ala245=) | dbSNP |
| MT | m.13071C= | CA2499567847 | MT-ND5 | c.735C= (p.Ala245=) | |
| MT | m.13071C>G | CA913170720 | MT-ND5 | c.735C>G (p.Ala245=) | |
| MT | m.13071C>T | CA913170721 | MT-ND5 | c.735C>T (p.Ala245=) | dbSNP |
| MT | m.13072C>A | CA414816492 | MT-ND5 | c.736C>A (p.Leu246Ile) | |
| MT | m.13072C= | CA2499567848 | MT-ND5 | c.736C= (p.Leu246=) | |
| MT | m.13072C>G | CA414816493 | MT-ND5 | c.736C>G (p.Leu246Val) | |
| MT | m.13072C>T | CA913170722 | MT-ND5 | c.736C>T (p.Leu246=) | dbSNP |
| MT | m.13073T>A | CA414816494 | MT-ND5 | c.737T>A (p.Leu246Gln) | ClinVar dbSNP |
| MT | m.13073T>C | CA414816495 | MT-ND5 | c.737T>C (p.Leu246Pro) | |
| MT | m.13073T>G | CA414816496 | MT-ND5 | c.737T>G (p.Leu246Arg) | |
| MT | m.13073T= | CA2499567849 | MT-ND5 | c.737T= (p.Leu246=) | |
| MT | m.13074A= | CA2499567850 | MT-ND5 | c.738A= (p.Leu246=) | |
| MT | m.13074A>C | CA913170723 | MT-ND5 | c.738A>C (p.Leu246=) | |
| MT | m.13074A>G | CA913170724 | MT-ND5 | c.738A>G (p.Leu246=) | dbSNP |
| MT | m.13074A>T | CA913170725 | MT-ND5 | c.738A>T (p.Leu246=) | |
| MT | m.13075C>A | CA414816497 | MT-ND5 | c.739C>A (p.Leu247Ile) | |
| MT | m.13075C= | CA2573322987 | MT-ND5 | c.739C= (p.Leu247=) | |
| MT | m.13075C>G | CA414816498 | MT-ND5 | c.739C>G (p.Leu247Val) | |
| MT | m.13075C>T | CA414816499 | MT-ND5 | c.739C>T (p.Leu247Phe) | |
| MT | m.13076T>A | CA414816500 | MT-ND5 | c.740T>A (p.Leu247His) | |
| MT | m.13076T>C | CA414816502 | MT-ND5 | c.740T>C (p.Leu247Pro) | |
| MT | m.13076T>G | CA414816501 | MT-ND5 | c.740T>G (p.Leu247Arg) | |
| MT | m.13076T= | CA2573322999 | MT-ND5 | c.740T= (p.Leu247=) | |
| MT | m.13077C>A | CA913170726 | MT-ND5 | c.741C>A (p.Leu247=) | |
| MT | m.13077C= | CA2499567851 | MT-ND5 | c.741C= (p.Leu247=) | |
| MT | m.13077C>G | CA913170727 | MT-ND5 | c.741C>G (p.Leu247=) | |
| MT | m.13077C>T | CA645611416 | MT-ND5 | c.741C>T (p.Leu247=) | dbSNP COSMIC |
| MT | m.13078C>A | CA414816503 | MT-ND5 | c.742C>A (p.His248Asn) | |
| MT | m.13078C= | CA2573323017 | MT-ND5 | c.742C= (p.His248=) | |
| MT | m.13078C>G | CA414816505 | MT-ND5 | c.742C>G (p.His248Asp) | |
| MT | m.13078C>T | CA414816504 | MT-ND5 | c.742C>T (p.His248Tyr) | |
| MT | m.13079A= | CA2573323021 | MT-ND5 | c.743A= (p.His248=) | |
| MT | m.13079A>C | CA414816506 | MT-ND5 | c.743A>C (p.His248Pro) | |
| MT | m.13079A>G | CA414816507 | MT-ND5 | c.743A>G (p.His248Arg) | |
| MT | m.13079A>T | CA414816508 | MT-ND5 | c.743A>T (p.His248Leu) | |
| MT | m.13080C>A | CA414816509 | MT-ND5 | c.744C>A (p.His248Gln) | |
| MT | m.13080C= | CA2573323030 | MT-ND5 | c.744C= (p.His248=) | |
| MT | m.13080C>G | CA414816510 | MT-ND5 | c.744C>G (p.His248Gln) | |
| MT | m.13080C>T | CA913170728 | MT-ND5 | c.744C>T (p.His248=) | |
| MT | m.13081T>A | CA414816511 | MT-ND5 | c.745T>A (p.Ser249Thr) | |
| MT | m.13081T>C | CA414816512 | MT-ND5 | c.745T>C (p.Ser249Pro) | |
| MT | m.13081T>G | CA414816513 | MT-ND5 | c.745T>G (p.Ser249Ala) | |
| MT | m.13081T= | CA2573323036 | MT-ND5 | c.745T= (p.Ser249=) | |
| MT | m.13082C>A | CA414816514 | MT-ND5 | c.746C>A (p.Ser249Ter) | |
| MT | m.13082C= | CA2573323053 | MT-ND5 | c.746C= (p.Ser249=) | |
| MT | m.13082C>G | CA414816515 | MT-ND5 | c.746C>G (p.Ser249Ter) | |
| MT | m.13082C>T | CA414816516 | MT-ND5 | c.746C>T (p.Ser249Leu) | |
| MT | m.13083A= | CA2573323059 | MT-ND5 | c.747A= (p.Ser249=) | |
| MT | m.13083A>C | CA913170731 | MT-ND5 | c.747A>C (p.Ser249=) | |
| MT | m.13083A>G | CA913170729 | MT-ND5 | c.747A>G (p.Ser249=) | |
| MT | m.13083A>T | CA913170730 | MT-ND5 | c.747A>T (p.Ser249=) | |
| MT | m.13084A= | CA2499567852 | MT-ND5 | c.748A= (p.Ser250=) | |
| MT | m.13084A>C | CA414816517 | MT-ND5 | c.748A>C (p.Ser250Arg) | |
| MT | m.13084A>G | CA414816518 | MT-ND5 | c.748A>G (p.Ser250Gly) | |
| MT | m.13084A>T | CA120631 | MT-ND5 | c.748A>T (p.Ser250Cys) | ClinVar dbSNP |
| MT | m.13085G>A | CA414816519 | MT-ND5 | c.749G>A (p.Ser250Asn) | |
| MT | m.13085G>C | CA414816520 | MT-ND5 | c.749G>C (p.Ser250Thr) | |
| MT | m.13085G= | CA2573323077 | MT-ND5 | c.749G= (p.Ser250=) | |
| MT | m.13085G>T | CA414816521 | MT-ND5 | c.749G>T (p.Ser250Ile) | |
| MT | m.13086C>A | CA414816522 | MT-ND5 | c.750C>A (p.Ser250Arg) | |
| MT | m.13086C= | CA2499567853 | MT-ND5 | c.750C= (p.Ser250=) | |
| MT | m.13086C>G | CA414816523 | MT-ND5 | c.750C>G (p.Ser250Arg) | |
| MT | m.13086C>T | CA913170732 | MT-ND5 | c.750C>T (p.Ser250=) | dbSNP |
| MT | m.13087A= | CA2573323085 | MT-ND5 | c.751A= (p.Thr251=) | |
| MT | m.13087A>C | CA414816524 | MT-ND5 | c.751A>C (p.Thr251Pro) | |
| MT | m.13087A>G | CA414816525 | MT-ND5 | c.751A>G (p.Thr251Ala) | |
| MT | m.13087A>T | CA414816526 | MT-ND5 | c.751A>T (p.Thr251Ser) | |
| MT | m.13088C>A | CA414816528 | MT-ND5 | c.752C>A (p.Thr251Asn) | |
| MT | m.13088C= | CA2573323090 | MT-ND5 | c.752C= (p.Thr251=) | |
| MT | m.13088C>G | CA414816529 | MT-ND5 | c.752C>G (p.Thr251Ser) | |
| MT | m.13088C>T | CA414816527 | MT-ND5 | c.752C>T (p.Thr251Ile) | |
| MT | m.13089T>A | CA913170733 | MT-ND5 | c.753T>A (p.Thr251=) | |
| MT | m.13089T>C | CA913170734 | MT-ND5 | c.753T>C (p.Thr251=) | dbSNP |
| MT | m.13089T>G | CA913170735 | MT-ND5 | c.753T>G (p.Thr251=) | |
| MT | m.13089T= | CA2499567854 | MT-ND5 | c.753T= (p.Thr251=) | |
| MT | m.13090A= | CA2573323097 | MT-ND5 | c.754A= (p.Ile252=) | |
| MT | m.13090A>C | CA414816530 | MT-ND5 | c.754A>C (p.Ile252Leu) | |
| MT | m.13090A>G | CA414816531 | MT-ND5 | c.754A>G (p.Ile252Val) | |
| MT | m.13090A>T | CA414816532 | MT-ND5 | c.754A>T (p.Ile252Leu) | |
| MT | m.13091T>A | CA414816533 | MT-ND5 | c.755T>A (p.Ile252Lys) | |
| MT | m.13091T>C | CA414816534 | MT-ND5 | c.755T>C (p.Ile252Thr) | |
| MT | m.13091T>G | CA414816535 | MT-ND5 | c.755T>G (p.Ile252Arg) | |
| MT | m.13091T= | CA2573323100 | MT-ND5 | c.755T= (p.Ile252=) | |
| MT | m.13092A= | CA2499567855 | MT-ND5 | c.756A= (p.Ile252=) | |
| MT | m.13092A>C | CA913170736 | MT-ND5 | c.756A>C (p.Ile252=) | |
| MT | m.13092A>G | CA337099622 | MT-ND5 | c.756A>G (p.Ile252Met) | dbSNP |
| MT | m.13092A>T | CA913170737 | MT-ND5 | c.756A>T (p.Ile252=) | |
| MT | m.13093G>A | CA414816536 | MT-ND5 | c.757G>A (p.Val253Ile) | dbSNP |
| MT | m.13093G>C | CA414816537 | MT-ND5 | c.757G>C (p.Val253Leu) | |
| MT | m.13093G= | CA2573323104 | MT-ND5 | c.757G= (p.Val253=) | |
| MT | m.13093G>T | CA414816538 | MT-ND5 | c.757G>T (p.Val253Phe) | |
| MT | m.13094T>A | CA414816541 | MT-ND5 | c.758T>A (p.Val253Asp) | |
| MT | m.13094T>C | CA414816540 | MT-ND5 | c.758T>C (p.Val253Ala) | ClinVar dbSNP |
| MT | m.13094T>G | CA414816539 | MT-ND5 | c.758T>G (p.Val253Gly) | |
| MT | m.13094T= | CA2499567856 | MT-ND5 | c.758T= (p.Val253=) | |
| MT | m.13095T>A | CA913170738 | MT-ND5 | c.759T>A (p.Val253=) | |
| MT | m.13095T>C | CA337099624 | MT-ND5 | c.759T>C (p.Val253=) | dbSNP |
| MT | m.13095T>G | CA913170739 | MT-ND5 | c.759T>G (p.Val253=) | dbSNP |
| MT | m.13095T= | CA2499567857 | MT-ND5 | c.759T= (p.Val253=) | |
| MT | m.13096G>A | CA414816542 | MT-ND5 | c.760G>A (p.Val254Ile) | |
| MT | m.13096G>C | CA414816543 | MT-ND5 | c.760G>C (p.Val254Leu) | |
| MT | m.13096G= | CA2573323124 | MT-ND5 | c.760G= (p.Val254=) | |
| MT | m.13096G>T | CA414816544 | MT-ND5 | c.760G>T (p.Val254Leu) | |
| MT | m.13097T>A | CA414816545 | MT-ND5 | c.761T>A (p.Val254Glu) | |
| MT | m.13097T>C | CA414816546 | MT-ND5 | c.761T>C (p.Val254Ala) | ClinVar dbSNP |
| MT | m.13097T>G | CA414816547 | MT-ND5 | c.761T>G (p.Val254Gly) | |
| MT | m.13097T= | CA2499567858 | MT-ND5 | c.761T= (p.Val254=) | |
| MT | m.13098A= | CA2499567859 | MT-ND5 | c.762A= (p.Val254=) | |
| MT | m.13098A>C | CA913170740 | MT-ND5 | c.762A>C (p.Val254=) | dbSNP |
| MT | m.13098A>G | CA913170741 | MT-ND5 | c.762A>G (p.Val254=) | dbSNP |
| MT | m.13098A>T | CA913170742 | MT-ND5 | c.762A>T (p.Val254=) | dbSNP |
| MT | m.13099G>A | CA414816548 | MT-ND5 | c.763G>A (p.Ala255Thr) | ClinVar dbSNP |
| MT | m.13099G>C | CA414816549 | MT-ND5 | c.763G>C (p.Ala255Pro) | |
| MT | m.13099G= | CA2499567860 | MT-ND5 | c.763G= (p.Ala255=) | |
| MT | m.13099G>T | CA414816550 | MT-ND5 | c.763G>T (p.Ala255Ser) | |
| MT | m.13100C>A | CA414816551 | MT-ND5 | c.764C>A (p.Ala255Glu) | |
| MT | m.13100C= | CA2513073422 | MT-ND5 | c.764C= (p.Ala255=) | |
| MT | m.13100C>G | CA414816552 | MT-ND5 | c.764C>G (p.Ala255Gly) | |
| MT | m.13100C>T | CA414816553 | MT-ND5 | c.764C>T (p.Ala255Val) | |
| MT | m.13101A= | CA2499567861 | MT-ND5 | c.765A= (p.Ala255=) | |
| MT | m.13101A>C | CA913170743 | MT-ND5 | c.765A>C (p.Ala255=) | dbSNP |
| MT | m.13101A>G | CA913170744 | MT-ND5 | c.765A>G (p.Ala255=) | dbSNP |
| MT | m.13101A>T | CA913170745 | MT-ND5 | c.765A>T (p.Ala255=) | |
| MT | m.13102G>A | CA414816556 | MT-ND5 | c.766G>A (p.Gly256Arg) | |
| MT | m.13102G>C | CA414816555 | MT-ND5 | c.766G>C (p.Gly256Arg) | |
| MT | m.13102G= | CA2573323153 | MT-ND5 | c.766G= (p.Gly256=) | |
| MT | m.13102G>T | CA414816554 | MT-ND5 | c.766G>T (p.Gly256Ter) | |
| MT | m.13103G>A | CA414816558 | MT-ND5 | c.767G>A (p.Gly256Glu) | |
| MT | m.13103G>C | CA414816557 | MT-ND5 | c.767G>C (p.Gly256Ala) | |
| MT | m.13103G= | CA2513213342 | MT-ND5 | c.767G= (p.Gly256=) | |
| MT | m.13103G>T | CA414816559 | MT-ND5 | c.767G>T (p.Gly256Val) | |
| MT | m.13104A= | CA2499567862 | MT-ND5 | c.768A= (p.Gly256=) | |
| MT | m.13104A>C | CA913170746 | MT-ND5 | c.768A>C (p.Gly256=) | |
| MT | m.13104A>G | CA337099626 | MT-ND5 | c.768A>G (p.Gly256=) | dbSNP |
| MT | m.13104A>T | CA913170747 | MT-ND5 | c.768A>T (p.Gly256=) | dbSNP |
| MT | m.13105A= | CA2499567863 | MT-ND5 | c.769A= (p.Ile257=) | |
| MT | m.13105A>C | CA414816560 | MT-ND5 | c.769A>C (p.Ile257Leu) | |
| MT | m.13105A>G | CA337099628 | MT-ND5 | c.769A>G (p.Ile257Val) | ClinVar dbSNP |
| MT | m.13105A>T | CA414816561 | MT-ND5 | c.769A>T (p.Ile257Phe) | |
| MT | m.13106T>A | CA414816562 | MT-ND5 | c.770T>A (p.Ile257Asn) | |
| MT | m.13106T>C | CA414816563 | MT-ND5 | c.770T>C (p.Ile257Thr) | ClinVar dbSNP |
| MT | m.13106T>G | CA414816564 | MT-ND5 | c.770T>G (p.Ile257Ser) | |
| MT | m.13106T= | CA2499567864 | MT-ND5 | c.770T= (p.Ile257=) | |
| MT | m.13107C>A | CA913170748 | MT-ND5 | c.771C>A (p.Ile257=) | |
| MT | m.13107C= | CA2573323179 | MT-ND5 | c.771C= (p.Ile257=) | |
| MT | m.13107C>G | CA414816565 | MT-ND5 | c.771C>G (p.Ile257Met) | |
| MT | m.13107C>T | CA913170749 | MT-ND5 | c.771C>T (p.Ile257=) | |
| MT | m.13108T>A | CA414816566 | MT-ND5 | c.772T>A (p.Phe258Ile) | |
| MT | m.13108T>C | CA414816567 | MT-ND5 | c.772T>C (p.Phe258Leu) | |
| MT | m.13108T>G | CA414816568 | MT-ND5 | c.772T>G (p.Phe258Val) | |
| MT | m.13108T= | CA2573323185 | MT-ND5 | c.772T= (p.Phe258=) |