| 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.8751A= | CA2499565857 | MT-ATP6 | c.225A= (p.Leu75=) | |
| MT | m.8751A>C | CA414797838 | MT-ATP6 | c.225A>C (p.Leu75Phe) | |
| MT | m.8751A>G | CA913179834 | MT-ATP6 | c.225A>G (p.Leu75=) | dbSNP |
| MT | m.8751A>T | CA414797841 | MT-ATP6 | c.225A>T (p.Leu75Phe) | |
| MT | m.8752_8753insAAA | CA913190827 | MT-ATP6 | c.226_227insAAA (p.Leu75_Ile76insLys) | ClinVar dbSNP |
| MT | m.8752A= | CA2499565860 | MT-ATP6 | c.226A= (p.Ile76=) | |
| MT | m.8752A>C | CA414797844 | MT-ATP6 | c.226A>C (p.Ile76Leu) | |
| MT | m.8752A>G | CA414797849 | MT-ATP6 | c.226A>G (p.Ile76Val) | ClinVar dbSNP |
| MT | m.8752A>T | CA414797851 | MT-ATP6 | c.226A>T (p.Ile76Phe) | |
| MT | m.8753T>A | CA414797855 | MT-ATP6 | c.227T>A (p.Ile76Asn) | |
| MT | m.8753T>C | CA414797857 | MT-ATP6 | c.227T>C (p.Ile76Thr) | dbSNP |
| MT | m.8753T>G | CA414797859 | MT-ATP6 | c.227T>G (p.Ile76Ser) | |
| MT | m.8753T= | CA2513692153 | MT-ATP6 | c.227T= (p.Ile76=) | |
| MT | m.8754C>A | CA913179850 | MT-ATP6 | c.228C>A (p.Ile76=) | |
| MT | m.8754C= | CA2499565862 | MT-ATP6 | c.228C= (p.Ile76=) | |
| MT | m.8754C>G | CA414797863 | MT-ATP6 | c.228C>G (p.Ile76Met) | |
| MT | m.8754C>T | CA913179849 | MT-ATP6 | c.228C>T (p.Ile76=) | dbSNP |
| MT | m.8755A= | CA2573330092 | MT-ATP6 | c.229A= (p.Ile77=) | |
| MT | m.8755A>C | CA414797871 | MT-ATP6 | c.229A>C (p.Ile77Leu) | |
| MT | m.8755A>G | CA414797873 | MT-ATP6 | c.229A>G (p.Ile77Val) | |
| MT | m.8755A>T | CA414797868 | MT-ATP6 | c.229A>T (p.Ile77Phe) | |
| MT | m.8756T>A | CA414797878 | MT-ATP6 | c.230T>A (p.Ile77Asn) | |
| MT | m.8756T>C | CA414797880 | MT-ATP6 | c.230T>C (p.Ile77Thr) | ClinVar dbSNP |
| MT | m.8756T>G | CA414797882 | MT-ATP6 | c.230T>G (p.Ile77Ser) | |
| MT | m.8756T= | CA2499565863 | MT-ATP6 | c.230T= (p.Ile77=) | |
| MT | m.8757T>A | CA913179857 | MT-ATP6 | c.231T>A (p.Ile77=) | |
| MT | m.8757T>C | CA913179854 | MT-ATP6 | c.231T>C (p.Ile77=) | dbSNP |
| MT | m.8757T>G | CA414797885 | MT-ATP6 | c.231T>G (p.Ile77Met) | |
| MT | m.8757T= | CA2499565865 | MT-ATP6 | c.231T= (p.Ile77=) | |
| MT | m.8758T>A | CA414797891 | MT-ATP6 | c.232T>A (p.Phe78Ile) | |
| MT | m.8758T>C | CA414797894 | MT-ATP6 | c.232T>C (p.Phe78Leu) | |
| MT | m.8758T>G | CA414797896 | MT-ATP6 | c.232T>G (p.Phe78Val) | |
| MT | m.8758T= | CA2573330096 | MT-ATP6 | c.232T= (p.Phe78=) | |
| MT | m.8759T>A | CA414797901 | MT-ATP6 | c.233T>A (p.Phe78Tyr) | |
| MT | m.8759T>C | CA414797903 | MT-ATP6 | c.233T>C (p.Phe78Ser) |