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.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) | |
MT | m.13717A= | CA2499568126 | MT-ND5 | c.1381A= (p.Ser461=) | |
MT | m.13717A>C | CA414819202 | MT-ND5 | c.1381A>C (p.Ser461Arg) | |
MT | m.13717A>G | CA414819204 | MT-ND5 | c.1381A>G (p.Ser461Gly) | dbSNP |
MT | m.13717A>T | CA414819206 | MT-ND5 | c.1381A>T (p.Ser461Cys) | |
MT | m.13718G>A | CA414819208 | MT-ND5 | c.1382G>A (p.Ser461Asn) | |
MT | m.13718G>C | CA414819210 | MT-ND5 | c.1382G>C (p.Ser461Thr) | dbSNP |
MT | m.13718G= | CA2499568127 | MT-ND5 | c.1382G= (p.Ser461=) | |
MT | m.13718G>T | CA414819212 | MT-ND5 | c.1382G>T (p.Ser461Ile) | |
MT | m.13719C>A | CA414819214 | MT-ND5 | c.1383C>A (p.Ser461Arg) | |
MT | m.13719C= | CA2499568128 | MT-ND5 | c.1383C= (p.Ser461=) | |
MT | m.13719C>G | CA414819215 | MT-ND5 | c.1383C>G (p.Ser461Arg) | |
MT | m.13719C>T | CA913171157 | MT-ND5 | c.1383C>T (p.Ser461=) | dbSNP |
MT | m.13720C>A | CA414819218 | MT-ND5 | c.1384C>A (p.Leu462Ile) | |
MT | m.13720C= | CA2499568129 | MT-ND5 | c.1384C= (p.Leu462=) | |
MT | m.13720C>G | CA414819219 | MT-ND5 | c.1384C>G (p.Leu462Val) | |
MT | m.13720C>T | CA913171158 | MT-ND5 | c.1384C>T (p.Leu462=) | dbSNP |
MT | m.13721T>A | CA414819225 | MT-ND5 | c.1385T>A (p.Leu462Gln) | |
MT | m.13721T>C | CA414819221 | MT-ND5 | c.1385T>C (p.Leu462Pro) | |
MT | m.13721T>G | CA414819223 | MT-ND5 | c.1385T>G (p.Leu462Arg) | |
MT | m.13721T= | CA2573325257 | MT-ND5 | c.1385T= (p.Leu462=) | |
MT | m.13722del | CA2740098362 | MT-ND5 | c.1386del (p.Phe463SerfsTer24) |