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.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.13708_13755del | CA2740098359 | MT-ND5 | c.1372_1419del (p.Ala458_Ser473del) | |
MT | m.13709C>A | CA414819171 | MT-ND5 | c.1373C>A (p.Ala458Glu) | |
MT | m.13709C= | CA2573325219 | MT-ND5 | c.1373C= (p.Ala458=) | |
MT | m.13709C>G | CA414819173 | MT-ND5 | c.1373C>G (p.Ala458Gly) | |
MT | m.13709C>T | CA414819175 | MT-ND5 | c.1373C>T (p.Ala458Val) | |
MT | m.13709_13713del | CA2740098360 | MT-ND5 | c.1373_1377del (p.Ala458GlyfsTer11) | |
MT | m.13710A= | CA2499568121 | MT-ND5 | c.1374A= (p.Ala458=) | |
MT | m.13710A>C | CA337099776 | MT-ND5 | c.1374A>C (p.Ala458=) | dbSNP |
MT | m.13710A>G | CA645611422 | MT-ND5 | c.1374A>G (p.Ala458=) | dbSNP COSMIC |
MT | m.13710A>T | CA913171151 | MT-ND5 | c.1374A>T (p.Ala458=) | |
MT | m.13711G>A | CA337099778 | MT-ND5 | c.1375G>A (p.Ala459Thr) | ClinVar dbSNP COSMIC |
MT | m.13711G>C | CA414819179 | MT-ND5 | c.1375G>C (p.Ala459Pro) | |
MT | m.13711G= | CA2499568122 | MT-ND5 | c.1375G= (p.Ala459=) | |
MT | m.13711G>T | CA414819181 | MT-ND5 | c.1375G>T (p.Ala459Ser) | |
MT | m.13712C>A | CA414819183 | MT-ND5 | c.1376C>A (p.Ala459Asp) | |
MT | m.13712C= | CA2499568123 | MT-ND5 | c.1376C= (p.Ala459=) | |
MT | m.13712C>G | CA414819185 | MT-ND5 | c.1376C>G (p.Ala459Gly) | |
MT | m.13712C>T | CA414819187 | MT-ND5 | c.1376C>T (p.Ala459Val) | ClinVar dbSNP |
MT | m.13713C>A | CA16040635 | MT-ND5 | c.1377C>A (p.Ala459=) | ClinVar dbSNP |
MT | m.13713C= | CA2499568124 | MT-ND5 | c.1377C= (p.Ala459=) | |
MT | m.13713C>G | CA913171152 | MT-ND5 | c.1377C>G (p.Ala459=) | |
MT | m.13713C>T | CA913171153 | MT-ND5 | c.1377C>T (p.Ala459=) | dbSNP |
MT | m.13714G>A | CA414819192 | MT-ND5 | c.1378G>A (p.Gly460Arg) | |
MT | m.13714G>C | CA414819194 | MT-ND5 | c.1378G>C (p.Gly460Arg) | |
MT | m.13714G= | CA2573325243 | MT-ND5 | c.1378G= (p.Gly460=) | |
MT | m.13714G>T | CA414819190 | MT-ND5 | c.1378G>T (p.Gly460Ter) | |
MT | m.13715G>A | CA414819200 | MT-ND5 | c.1379G>A (p.Gly460Glu) | |
MT | m.13715G>C | CA414819196 | MT-ND5 | c.1379G>C (p.Gly460Ala) | |
MT | m.13715G= | CA2573325246 | MT-ND5 | c.1379G= (p.Gly460=) | |
MT | m.13715G>T | CA414819198 | MT-ND5 | c.1379G>T (p.Gly460Val) | |
MT | m.13716A= | CA2499568125 | MT-ND5 | c.1380A= (p.Gly460=) | |
MT | m.13716A>C | CA913171154 | MT-ND5 | c.1380A>C (p.Gly460=) | |
MT | m.13716A>G | CA913171155 | MT-ND5 | c.1380A>G (p.Gly460=) | dbSNP |
MT | m.13716A>T | CA913171156 | MT-ND5 | c.1380A>T (p.Gly460=) | |
MT | m.13716_13720del | CA2740098361 | MT-ND5 | c.1380_1384del (p.Ser461IlefsTer8) |