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.8694A= | CA2499565884 | MT-ATP6 | c.168A= (p.Gln56=) | |
MT | m.8694A>C | CA414797480 | MT-ATP6 | c.168A>C (p.Gln56His) | |
MT | m.8694A>G | CA913179623 | MT-ATP6 | c.168A>G (p.Gln56=) | dbSNP |
MT | m.8694A>T | CA414797482 | MT-ATP6 | c.168A>T (p.Gln56His) | dbSNP |
MT | m.8695A= | CA2573330026 | MT-ATP6 | c.169A= (p.Met57=) | |
MT | m.8695A>C | CA414797486 | MT-ATP6 | c.169A>C (p.Met57Leu) | |
MT | m.8695A>G | CA414797488 | MT-ATP6 | c.169A>G (p.Met57Val) | |
MT | m.8695A>T | CA414797490 | MT-ATP6 | c.169A>T (p.Met57Leu) | |
MT | m.8696T>A | CA414797492 | MT-ATP6 | c.170T>A (p.Met57Lys) | |
MT | m.8696T>C | CA414797493 | MT-ATP6 | c.170T>C (p.Met57Thr) | dbSNP |
MT | m.8696T>G | CA414797494 | MT-ATP6 | c.170T>G (p.Met57Arg) | |
MT | m.8696T= | CA2499565886 | MT-ATP6 | c.170T= (p.Met57=) | |
MT | m.8697G>A | CA337097989 | MT-ATP6 | c.171G>A (p.Met57Ile) | dbSNP |
MT | m.8697G>C | CA414797499 | MT-ATP6 | c.171G>C (p.Met57Ile) | |
MT | m.8697G= | CA2499565888 | MT-ATP6 | c.171G= (p.Met57=) | |
MT | m.8697G>T | CA414797501 | MT-ATP6 | c.171G>T (p.Met57Ile) | ClinVar dbSNP |
MT | m.8698A= | CA2573330027 | MT-ATP6 | c.172A= (p.Ile58=) | |
MT | m.8698A>C | CA414797509 | MT-ATP6 | c.172A>C (p.Ile58Leu) | |
MT | m.8698A>G | CA414797507 | MT-ATP6 | c.172A>G (p.Ile58Val) | dbSNP |
MT | m.8698A>T | CA414797504 | MT-ATP6 | c.172A>T (p.Ile58Leu) | |
MT | m.8699T>A | CA414797513 | MT-ATP6 | c.173T>A (p.Ile58Lys) | |
MT | m.8699T>C | CA414797515 | MT-ATP6 | c.173T>C (p.Ile58Thr) | ClinVar dbSNP |
MT | m.8699T>G | CA414797518 | MT-ATP6 | c.173T>G (p.Ile58Arg) | |
MT | m.8699T= | CA2499565890 | MT-ATP6 | c.173T= (p.Ile58=) | |
MT | m.8700A= | CA2499565892 | MT-ATP6 | c.174A= (p.Ile58=) | |
MT | m.8700A>C | CA913179640 | MT-ATP6 | c.174A>C (p.Ile58=) | |
MT | m.8700A>G | CA414797522 | MT-ATP6 | c.174A>G (p.Ile58Met) | dbSNP |
MT | m.8700A>T | CA913179638 | MT-ATP6 | c.174A>T (p.Ile58=) | ClinVar dbSNP |
MT | m.8701A= | CA2499565785 | MT-ATP6 | c.175A= (p.Thr59=) | |
MT | m.8701A>C | CA414797525 | MT-ATP6 | c.175A>C (p.Thr59Pro) | dbSNP |
MT | m.8701A>G | CA337097991 | MT-ATP6 | c.175A>G (p.Thr59Ala) | ClinVar dbSNP |
MT | m.8701A>T | CA414797530 | MT-ATP6 | c.175A>T (p.Thr59Ser) | |
MT | m.8702C>A | CA414797534 | MT-ATP6 | c.176C>A (p.Thr59Asn) | |
MT | m.8702C= | CA2499565787 | MT-ATP6 | c.176C= (p.Thr59=) | |
MT | m.8702C>G | CA414797537 | MT-ATP6 | c.176C>G (p.Thr59Ser) |