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.8265_8274del | CA2741808808 | |||
MT | m.8263C>A | CA913178837 | MT-CO2 | c.678C>A (p.Thr226=) | |
MT | m.8263C= | CA2573329117 | MT-CO2 | c.678C= (p.Thr226=) | |
MT | m.8263C>G | CA913178836 | MT-CO2 | c.678C>G (p.Thr226=) | |
MT | m.8263C>T | CA913178835 | MT-CO2 | c.678C>T (p.Thr226=) | |
MT | m.8264C>A | CA414795749 | MT-CO2 | c.679C>A (p.Leu227Ile) | |
MT | m.8264C= | CA2573329119 | MT-CO2 | c.679C= (p.Leu227=) | |
MT | m.8264C>G | CA414795750 | MT-CO2 | c.679C>G (p.Leu227Val) | |
MT | m.8264C>T | CA913178838 | MT-CO2 | c.679C>T (p.Leu227=) | dbSNP |
MT | m.8265del | CA2573104893 | MT-CO2 | c.680del (p.Leu227HisfsTer?) | |
MT | m.8265T>A | CA414795753 | MT-CO2 | c.680T>A (p.Leu227Gln) | |
MT | m.8265T>C | CA414795755 | MT-CO2 | c.680T>C (p.Leu227Pro) | ClinVar dbSNP |
MT | m.8265T>G | CA414795756 | MT-CO2 | c.680T>G (p.Leu227Arg) | dbSNP |
MT | m.8265T= | CA2499565542 | MT-CO2 | c.680T= (p.Leu227=) | |
MT | m.8266A= | CA2499565543 | MT-CO2 | c.681A= (p.Leu227=) | |
MT | m.8266A>C | CA913178843 | MT-CO2 | c.681A>C (p.Leu227=) | |
MT | m.8266A>G | CA913178841 | MT-CO2 | c.681A>G (p.Leu227=) | dbSNP |
MT | m.8266A>T | CA913178840 | MT-CO2 | c.681A>T (p.Leu227=) | |
MT | m.8267T>A | CA414795759 | MT-CO2 | c.682T>A (p.Ter228Lys) | |
MT | m.8267T>C | CA414795762 | MT-CO2 | c.682T>C (p.Ter228Gln) | |
MT | m.8267T>G | CA414795761 | MT-CO2 | c.682T>G (p.Ter228Glu) | |
MT | m.8267T= | CA2573329125 | MT-CO2 | c.682T= (p.Ter228=) | |
MT | m.8268A= | CA2513114455 | MT-CO2 | c.683A= (p.Ter228=) | |
MT | m.8268A>C | CA414795765 | MT-CO2 | c.683A>C (p.Ter228Ser) | |
MT | m.8268A>G | CA414795767 | MT-CO2 | c.683A>G (p.Ter228Trp) | |
MT | m.8268A>T | CA414795768 | MT-CO2 | c.683A>T (p.Ter228Leu) | |
MT | m.8268_8276del | CA2740101866 | |||
MT | m.8269G>A | CA913178846 | MT-CO2 | c.684G>A (p.Ter228=) | ClinVar dbSNP |
MT | m.8269G>C | CA414795771 | MT-CO2 | c.684G>C (p.Ter228Tyr) | |
MT | m.8269G= | CA2499565544 | MT-CO2 | c.684G= (p.Ter228=) | |
MT | m.8269G>T | CA414795772 | MT-CO2 | c.684G>T (p.Ter228Tyr) | |
MT | m.8269_8270insGGGGGGGGGGGGGGGG | CA2573104894 | |||
MT | m.8269_8270del | CA2573104895 | |||
MT | m.8269_8270dup | CA2740101867 | |||
MT | m.8269_8276del | CA2740101868 | |||
MT | m.8269_8277del | CA2740101869 | |||
MT | m.8269_8278delinsGCACCCCCTC | CA2499565545 | |||
MT | m.8270C>A | CA2573329132 | |||
MT | m.8270C= | CA2499565547 | |||
MT | m.8270C>G | CA2573329130 | |||
MT | m.8270C>T | CA2499565546 | dbSNP |