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.12611T>A | CA414814004 | MT-ND5 | c.275T>A (p.Val92Glu) | |
MT | m.12611T>C | CA414814005 | MT-ND5 | c.275T>C (p.Val92Ala) | |
MT | m.12611T>G | CA414814006 | MT-ND5 | c.275T>G (p.Val92Gly) | |
MT | m.12611T= | CA2573329794 | MT-ND5 | c.275T= (p.Val92=) | |
MT | m.12612A= | CA2499567657 | MT-ND5 | c.276A= (p.Val92=) | |
MT | m.12612A>C | CA337099509 | MT-ND5 | c.276A>C (p.Val92=) | dbSNP |
MT | m.12612A>G | CA337099510 | MT-ND5 | c.276A>G (p.Val92=) | dbSNP |
MT | m.12612A>T | CA337099511 | MT-ND5 | c.276A>T (p.Val92=) | |
MT | m.12613G>A | CA414814013 | MT-ND5 | c.277G>A (p.Ala93Thr) | |
MT | m.12613G>C | CA414814014 | MT-ND5 | c.277G>C (p.Ala93Pro) | |
MT | m.12613G= | CA2499567658 | MT-ND5 | c.277G= (p.Ala93=) | |
MT | m.12613G>T | CA414814016 | MT-ND5 | c.277G>T (p.Ala93Ser) | ClinVar dbSNP |
MT | m.12614C>A | CA414814018 | MT-ND5 | c.278C>A (p.Ala93Glu) | |
MT | m.12614C= | CA2573329798 | MT-ND5 | c.278C= (p.Ala93=) | |
MT | m.12614C>G | CA414814020 | MT-ND5 | c.278C>G (p.Ala93Gly) | |
MT | m.12614C>T | CA414814022 | MT-ND5 | c.278C>T (p.Ala93Val) | |
MT | m.12615A= | CA2573329800 | MT-ND5 | c.279A= (p.Ala93=) | |
MT | m.12615A>C | CA913170427 | MT-ND5 | c.279A>C (p.Ala93=) | |
MT | m.12615A>G | CA913170426 | MT-ND5 | c.279A>G (p.Ala93=) | |
MT | m.12615A>T | CA913170425 | MT-ND5 | c.279A>T (p.Ala93=) | |
MT | m.12616T>A | CA414814024 | MT-ND5 | c.280T>A (p.Leu94Met) | |
MT | m.12616T>C | CA913170428 | MT-ND5 | c.280T>C (p.Leu94=) | dbSNP |
MT | m.12616T>G | CA414814026 | MT-ND5 | c.280T>G (p.Leu94Val) | |
MT | m.12616T= | CA2499567659 | MT-ND5 | c.280T= (p.Leu94=) | |
MT | m.12617T>A | CA414814029 | MT-ND5 | c.281T>A (p.Leu94Ter) | |
MT | m.12617T>C | CA414814030 | MT-ND5 | c.281T>C (p.Leu94Ser) | |
MT | m.12617T>G | CA414814032 | MT-ND5 | c.281T>G (p.Leu94Trp) | |
MT | m.12617T= | CA2573329802 | MT-ND5 | c.281T= (p.Leu94=) | |
MT | m.12618G>A | CA337099512 | MT-ND5 | c.282G>A (p.Leu94=) | dbSNP COSMIC |
MT | m.12618G>C | CA414814037 | MT-ND5 | c.282G>C (p.Leu94Phe) |