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.13509C>A | CA913171015 | MT-ND5 | c.1173C>A (p.Ser391=) | |
MT | m.13509C= | CA2573324606 | MT-ND5 | c.1173C= (p.Ser391=) | |
MT | m.13509C>G | CA913171016 | MT-ND5 | c.1173C>G (p.Ser391=) | |
MT | m.13509C>T | CA913171014 | MT-ND5 | c.1173C>T (p.Ser391=) | dbSNP |
MT | m.13510A= | CA2573324608 | MT-ND5 | c.1174A= (p.Lys392=) | |
MT | m.13510A>C | CA414818307 | MT-ND5 | c.1174A>C (p.Lys392Gln) | |
MT | m.13510A>G | CA414818309 | MT-ND5 | c.1174A>G (p.Lys392Glu) | |
MT | m.13510A>T | CA414818306 | MT-ND5 | c.1174A>T (p.Lys392Ter) | |
MT | m.13511A= | CA2573324611 | MT-ND5 | c.1175A= (p.Lys392=) | |
MT | m.13511A>C | CA414818312 | MT-ND5 | c.1175A>C (p.Lys392Thr) | |
MT | m.13511A>G | CA414818316 | MT-ND5 | c.1175A>G (p.Lys392Arg) | |
MT | m.13511A>T | CA414818314 | MT-ND5 | c.1175A>T (p.Lys392Ile) | |
MT | m.13512A= | CA2499568033 | MT-ND5 | c.1176A= (p.Lys392=) | |
MT | m.13512A>C | CA414818318 | MT-ND5 | c.1176A>C (p.Lys392Asn) | |
MT | m.13512A>G | CA337099714 | MT-ND5 | c.1176A>G (p.Lys392=) | dbSNP |
MT | m.13512A>T | CA414818319 | MT-ND5 | c.1176A>T (p.Lys392Asn) | |
MT | m.13513G>A | CA120632 | MT-ND5 | c.1177G>A (p.Asp393Asn) | ClinVar dbSNP |
MT | m.13513G>C | CA414818324 | MT-ND5 | c.1177G>C (p.Asp393His) | dbSNP |
MT | m.13513G= | CA2499568034 | MT-ND5 | c.1177G= (p.Asp393=) | |
MT | m.13513G>T | CA414818326 | MT-ND5 | c.1177G>T (p.Asp393Tyr) | |
MT | m.13514A= | CA2499568035 | MT-ND5 | c.1178A= (p.Asp393=) | |
MT | m.13514A>C | CA414818329 | MT-ND5 | c.1178A>C (p.Asp393Ala) | |
MT | m.13514A>G | CA345918 | MT-ND5 | c.1178A>G (p.Asp393Gly) | ClinVar dbSNP |
MT | m.13514A>T | CA414818331 | MT-ND5 | c.1178A>T (p.Asp393Val) | |
MT | m.13515C>A | CA414818332 | MT-ND5 | c.1179C>A (p.Asp393Glu) | |
MT | m.13515C= | CA2499568036 | MT-ND5 | c.1179C= (p.Asp393=) | |
MT | m.13515C>G | CA414818333 | MT-ND5 | c.1179C>G (p.Asp393Glu) | |
MT | m.13515C>T | CA913171017 | MT-ND5 | c.1179C>T (p.Asp393=) | dbSNP |
MT | m.13516C>A | CA414818334 | MT-ND5 | c.1180C>A (p.His394Asn) | |
MT | m.13516C= | CA2573324626 | MT-ND5 | c.1180C= (p.His394=) | |
MT | m.13516C>G | CA414818335 | MT-ND5 | c.1180C>G (p.His394Asp) | |
MT | m.13516C>T | CA414818336 | MT-ND5 | c.1180C>T (p.His394Tyr) | |
MT | m.13517A= | CA2573324629 | MT-ND5 | c.1181A= (p.His394=) | |
MT | m.13517A>C | CA414818339 | MT-ND5 | c.1181A>C (p.His394Pro) | |
MT | m.13517A>G | CA414818337 | MT-ND5 | c.1181A>G (p.His394Arg) |