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.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.10950_15540del | CA2580102079 | ClinVar | ||
MT | m.11263_15374del | CA645373341 | ClinVar | ||
MT | m.12114_14420del | CA645373342 | ClinVar | ||
MT | m.12650T>A | CA414814187 | MT-ND5 | c.314T>A (p.Leu105Gln) | |
MT | m.12650T>C | CA414814188 | MT-ND5 | c.314T>C (p.Leu105Pro) | |
MT | m.12650T>G | CA414814190 | MT-ND5 | c.314T>G (p.Leu105Arg) | |
MT | m.12650T= | CA2573329857 | MT-ND5 | c.314T= (p.Leu105=) | |
MT | m.12651G>A | CA913170447 | MT-ND5 | c.315G>A (p.Leu105=) | dbSNP |
MT | m.12651G>C | CA337099516 | MT-ND5 | c.315G>C (p.Leu105=) | dbSNP |
MT | m.12651G= | CA2499567675 | MT-ND5 | c.315G= (p.Leu105=) | |
MT | m.12651G>T | CA337099517 | MT-ND5 | c.315G>T (p.Leu105=) | |
MT | m.12652T>A | CA414814195 | MT-ND5 | c.316T>A (p.Ter106Arg) | |
MT | m.12652T>C | CA414814197 | MT-ND5 | c.316T>C (p.Ter106Arg) | |
MT | m.12652T>G | CA414814199 | MT-ND5 | c.316T>G (p.Ter106Gly) | |
MT | m.12652T= | CA414814201 | MT-ND5 | c.316T= (p.Ter106=) | |
MT | m.12653G>A | CA414814207 | MT-ND5 | c.317G>A (p.Ter106=) | |
MT | m.12653G>C | CA414814205 | MT-ND5 | c.317G>C (p.Ter106Ser) | |
MT | m.12653G= | CA414814209 | MT-ND5 | c.317G= (p.Ter106=) | |
MT | m.12653G>T | CA414814204 | MT-ND5 | c.317G>T (p.Ter106Leu) | |
MT | m.12654A= | CA414814213 | MT-ND5 | c.318A= (p.Ter106=) | |
MT | m.12654A>C | CA337099518 | MT-ND5 | c.318A>C (p.Ter106Cys) | |
MT | m.12654A>G | CA337099520 | MT-ND5 | c.318A>G (p.Ter106Trp) | dbSNP |
MT | m.12654A>T | CA337099519 | MT-ND5 | c.318A>T (p.Ter106Cys) | |
MT | m.12655T>A | CA414814217 | MT-ND5 | c.319T>A (p.Tyr107Asn) | |
MT | m.12655T>C | CA414814219 | MT-ND5 | c.319T>C (p.Tyr107His) | |
MT | m.12655T>G | CA414814221 | MT-ND5 | c.319T>G (p.Tyr107Asp) | |
MT | m.12655T= | CA2573329865 | MT-ND5 | c.319T= (p.Tyr107=) | |
MT | m.12656A= | CA2573329867 | MT-ND5 | c.320A= (p.Tyr107=) | |
MT | m.12656A>C | CA414814223 | MT-ND5 | c.320A>C (p.Tyr107Ser) | |
MT | m.12656A>G | CA414814225 | MT-ND5 | c.320A>G (p.Tyr107Cys) | |
MT | m.12656A>T | CA414814227 | MT-ND5 | c.320A>T (p.Tyr107Phe) | |
MT | m.12657T>A | CA414814229 | MT-ND5 | c.321T>A (p.Tyr107Ter) | |
MT | m.12657T>C | CA913170448 | MT-ND5 | c.321T>C (p.Tyr107=) | dbSNP |