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.6005_11222del | CA645373331 | ClinVar | ||
MT | m.6470_15588del | CA645373332 | ClinVar | ||
MT | m.7129_13991del | CA645373333 | ClinVar | ||
MT | m.7731_11256del | CA645373334 | 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.8688_8778del | CA2573105022 | MT-ATP6 | c.162_252del (p.Lys55SerfsTer16) | |
MT | m.8739A= | CA2499565837 | MT-ATP6 | c.213A= (p.Ile71=) | |
MT | m.8739A>C | CA913179754 | MT-ATP6 | c.213A>C (p.Ile71=) | |
MT | m.8739A>G | CA414797775 | MT-ATP6 | c.213A>G (p.Ile71Met) | dbSNP |
MT | m.8739A>T | CA913179751 | MT-ATP6 | c.213A>T (p.Ile71=) | |
MT | m.8740C>A | CA414797778 | MT-ATP6 | c.214C>A (p.Leu72Ile) | |
MT | m.8740C= | CA2499565839 | MT-ATP6 | c.214C= (p.Leu72=) | |
MT | m.8740C>G | CA414797780 | MT-ATP6 | c.214C>G (p.Leu72Val) | |
MT | m.8740C>T | CA913179756 | MT-ATP6 | c.214C>T (p.Leu72=) | dbSNP |
MT | m.8741T>A | CA414797785 | MT-ATP6 | c.215T>A (p.Leu72Gln) | |
MT | m.8741T>C | CA414797788 | MT-ATP6 | c.215T>C (p.Leu72Pro) | |
MT | m.8741T>G | CA414797783 | MT-ATP6 | c.215T>G (p.Leu72Arg) | |
MT | m.8741T= | CA2573330080 | MT-ATP6 | c.215T= (p.Leu72=) | |
MT | m.8742A= | CA2499565841 | MT-ATP6 | c.216A= (p.Leu72=) | |
MT | m.8742A>C | CA913179774 | MT-ATP6 | c.216A>C (p.Leu72=) | |
MT | m.8742A>G | CA913179769 | MT-ATP6 | c.216A>G (p.Leu72=) | dbSNP |
MT | m.8742A>T | CA913179767 | MT-ATP6 | c.216A>T (p.Leu72=) | |
MT | m.8743G>A | CA414797790 | MT-ATP6 | c.217G>A (p.Val73Ile) | dbSNP |
MT | m.8743G>C | CA337098015 | MT-ATP6 | c.217G>C (p.Val73Leu) | dbSNP |
MT | m.8743G= | CA2499565843 | MT-ATP6 | c.217G= (p.Val73=) | |
MT | m.8743G>T | CA414797792 | MT-ATP6 | c.217G>T (p.Val73Leu) | |
MT | m.8744T>A | CA414797798 | MT-ATP6 | c.218T>A (p.Val73Glu) | |
MT | m.8744T>C | CA414797803 | MT-ATP6 | c.218T>C (p.Val73Ala) | ClinVar dbSNP |
MT | m.8744T>G | CA414797800 | MT-ATP6 | c.218T>G (p.Val73Gly) | |
MT | m.8744T= | CA2499565845 | MT-ATP6 | c.218T= (p.Val73=) | |
MT | m.8745A= | CA2499565847 | MT-ATP6 | c.219A= (p.Val73=) | |
MT | m.8745A>C | CA913179792 | MT-ATP6 | c.219A>C (p.Val73=) | |
MT | m.8745A>G | CA913179789 | MT-ATP6 | c.219A>G (p.Val73=) | dbSNP |
MT | m.8745A>T | CA913179785 | MT-ATP6 | c.219A>T (p.Val73=) | |
MT | m.8746T>A | CA414797806 | MT-ATP6 | c.220T>A (p.Ser74Thr) | |
MT | m.8746T>C | CA414797810 | MT-ATP6 | c.220T>C (p.Ser74Pro) | ClinVar dbSNP |
MT | m.8746T>G | CA414797812 | MT-ATP6 | c.220T>G (p.Ser74Ala) | |
MT | m.8746T= | CA2499565850 | MT-ATP6 | c.220T= (p.Ser74=) | |
MT | m.8747C>A | CA414797815 | MT-ATP6 | c.221C>A (p.Ser74Tyr) | |
MT | m.8747C= | CA2573330084 | MT-ATP6 | c.221C= (p.Ser74=) | |
MT | m.8747C>G | CA414797818 | MT-ATP6 | c.221C>G (p.Ser74Cys) |