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.8715T>A | CA913179678 | MT-ATP6 | c.189T>A (p.Thr63=) | |
MT | m.8715T>C | CA913179677 | MT-ATP6 | c.189T>C (p.Thr63=) | dbSNP |
MT | m.8715T>G | CA913179674 | MT-ATP6 | c.189T>G (p.Thr63=) | |
MT | m.8715T= | CA2499565801 | MT-ATP6 | c.189T= (p.Thr63=) | |
MT | m.8716A= | CA2573330051 | MT-ATP6 | c.190A= (p.Lys64=) | |
MT | m.8716A>C | CA414797626 | MT-ATP6 | c.190A>C (p.Lys64Gln) | |
MT | m.8716A>G | CA414797623 | MT-ATP6 | c.190A>G (p.Lys64Glu) | |
MT | m.8716A>T | CA414797620 | MT-ATP6 | c.190A>T (p.Lys64Ter) | |
MT | m.8718del | CA2573104890 | MT-ATP6 | c.192del (p.Gly65AspfsTer8) | |
MT | m.8717A= | CA2573330052 | MT-ATP6 | c.191A= (p.Lys64=) | |
MT | m.8717A>C | CA414797632 | MT-ATP6 | c.191A>C (p.Lys64Thr) | |
MT | m.8717A>G | CA414797629 | MT-ATP6 | c.191A>G (p.Lys64Arg) | |
MT | m.8717A>T | CA414797633 | MT-ATP6 | c.191A>T (p.Lys64Ile) | |
MT | m.8718A= | CA2499565803 | MT-ATP6 | c.192A= (p.Lys64=) | |
MT | m.8718A>C | CA414797637 | MT-ATP6 | c.192A>C (p.Lys64Asn) | |
MT | m.8718A>G | CA913179681 | MT-ATP6 | c.192A>G (p.Lys64=) | dbSNP |
MT | m.8718A>T | CA414797639 | MT-ATP6 | c.192A>T (p.Lys64Asn) | |
MT | m.8719G>A | CA337098000 | MT-ATP6 | c.193G>A (p.Gly65Arg) | ClinVar dbSNP |
MT | m.8719G>C | CA414797644 | MT-ATP6 | c.193G>C (p.Gly65Arg) | |
MT | m.8719G= | CA2499565805 | MT-ATP6 | c.193G= (p.Gly65=) | |
MT | m.8719G>T | CA414797647 | MT-ATP6 | c.193G>T (p.Gly65Ter) | |
MT | m.8720G>A | CA414797652 | MT-ATP6 | c.194G>A (p.Gly65Glu) | ClinVar dbSNP |
MT | m.8720G>C | CA414797654 | MT-ATP6 | c.194G>C (p.Gly65Ala) | ClinVar dbSNP |
MT | m.8720G= | CA2499565809 | MT-ATP6 | c.194G= (p.Gly65=) | |
MT | m.8720G>T | CA414797656 | MT-ATP6 | c.194G>T (p.Gly65Val) | |
MT | m.8721A= | CA2499565811 | MT-ATP6 | c.195A= (p.Gly65=) | |
MT | m.8721A>C | CA913179688 | MT-ATP6 | c.195A>C (p.Gly65=) | |
MT | m.8721A>G | CA913179690 | MT-ATP6 | c.195A>G (p.Gly65=) | dbSNP |
MT | m.8721A>T | CA913179687 | MT-ATP6 | c.195A>T (p.Gly65=) | |
MT | m.8722C>A | CA913179693 | MT-ATP6 | c.196C>A (p.Arg66=) | |
MT | m.8722C= | CA2499565813 | MT-ATP6 | c.196C= (p.Arg66=) | |
MT | m.8722C>G | CA414797659 | MT-ATP6 | c.196C>G (p.Arg66Gly) | |
MT | m.8722C>T | CA414797660 | MT-ATP6 | c.196C>T (p.Arg66Ter) | ClinVar dbSNP |
MT | m.8723G>A | CA414797669 | MT-ATP6 | c.197G>A (p.Arg66Gln) | ClinVar dbSNP |
MT | m.8723G>C | CA414797667 | MT-ATP6 | c.197G>C (p.Arg66Pro) |