Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.5774_14768del | CA2580610836 | |||
MT | m.5794_14876del | CA250414 | ClinVar | ||
MT | m.6470_15588del | CA645373332 | 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.14279G>A | CA356575 | MT-ND6 | c.395C>T (p.Ser132Leu) | ClinVar dbSNP |
MT | m.14279G>C | CA414821728 | MT-ND6 | c.395C>G (p.Ser132Ter) | |
MT | m.14279G= | CA2499568410 | MT-ND6 | c.395C= (p.Ser132=) | |
MT | m.14279G>T | CA414821725 | MT-ND6 | c.395C>A (p.Ser132Ter) | |
MT | m.14280A= | CA2499568411 | MT-ND6 | c.394T= (p.Ser132=) | |
MT | m.14280A>C | CA414821731 | MT-ND6 | c.394T>G (p.Ser132Ala) | ClinVar dbSNP |
MT | m.14280A>G | CA414821732 | MT-ND6 | c.394T>C (p.Ser132Pro) | ClinVar dbSNP |
MT | m.14280A>T | CA414821734 | MT-ND6 | c.394T>A (p.Ser132Thr) | dbSNP |
MT | m.14281C>A | CA913171547 | MT-ND6 | c.393G>T (p.Gly131=) | |
MT | m.14281C= | CA2499568412 | MT-ND6 | c.393G= (p.Gly131=) | |
MT | m.14281C>G | CA913171548 | MT-ND6 | c.393G>C (p.Gly131=) | dbSNP |
MT | m.14281C>T | CA913171549 | MT-ND6 | c.393G>A (p.Gly131=) | dbSNP |
MT | m.14284_14285insCCCCCCCCCCCCCC | CA2573105297 | MT-ND6 | c.393_394insGGGGGGGGGGGGGG (p.Ser132GlyfsTer8) | |
MT | m.14284del | CA2573105298 | MT-ND6 | c.393del (p.Ser132GlnfsTer3) | |
MT | m.14282C>A | CA414821737 | MT-ND6 | c.392G>T (p.Gly131Val) | |
MT | m.14282C= | CA2573326830 | MT-ND6 | c.392G= (p.Gly131=) | |
MT | m.14282C>G | CA414821739 | MT-ND6 | c.392G>C (p.Gly131Ala) | |
MT | m.14282C>T | CA414821740 | MT-ND6 | c.392G>A (p.Gly131Glu) | |
MT | m.14283C>A | CA414821743 | MT-ND6 | c.391G>T (p.Gly131Trp) | |
MT | m.14283C= | CA2573326831 | MT-ND6 | c.391G= (p.Gly131=) | |
MT | m.14283C>G | CA414821745 | MT-ND6 | c.391G>C (p.Gly131Arg) | |
MT | m.14283C>T | CA414821747 | MT-ND6 | c.391G>A (p.Gly131Arg) | |
MT | m.14284C>A | CA337099982 | MT-ND6 | c.390G>T (p.Glu130Asp) | |
MT | m.14284C= | CA2499568413 | MT-ND6 | c.390G= (p.Glu130=) | |
MT | m.14284C>G | CA337099984 | MT-ND6 | c.390G>C (p.Glu130Asp) | |
MT | m.14284C>T | CA913171550 | MT-ND6 | c.390G>A (p.Glu130=) | dbSNP |
MT | m.14285del | CA2573105299 | MT-ND6 | c.389del (p.Glu130GlyfsTer5) | |
MT | m.14285T>A | CA414821756 | MT-ND6 | c.389A>T (p.Glu130Val) | |
MT | m.14285T>C | CA414821754 | MT-ND6 | c.389A>G (p.Glu130Gly) | |
MT | m.14285T>G | CA414821752 | MT-ND6 | c.389A>C (p.Glu130Ala) | |
MT | m.14285T= | CA2573326834 | MT-ND6 | c.389A= (p.Glu130=) | |
MT | m.14286C>A | CA414821759 | MT-ND6 | c.388G>T (p.Glu130Ter) | |
MT | m.14286C= | CA2513211091 | MT-ND6 | c.388G= (p.Glu130=) | |
MT | m.14286C>G | CA414821760 | MT-ND6 | c.388G>C (p.Glu130Gln) | |
MT | m.14286C>T | CA414821762 | MT-ND6 | c.388G>A (p.Glu130Lys) | |
MT | m.14287T>A | CA913171551 | MT-ND6 | c.387A>T (p.Gly129=) | |
MT | m.14287T>C | CA913171552 | MT-ND6 | c.387A>G (p.Gly129=) | dbSNP |
MT | m.14287T>G | CA913171553 | MT-ND6 | c.387A>C (p.Gly129=) | |
MT | m.14287T= | CA2499568414 | MT-ND6 | c.387A= (p.Gly129=) | |
MT | m.14288C>A | CA414821764 | MT-ND6 | c.386G>T (p.Gly129Val) |