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.8350_13450del | CA915952048 | ClinVar | ||
MT | m.8483_13459del | CA645373336 | ClinVar | ||
MT | m.8480_13440del | CA915952050 | 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.13276_13278del | CA2573105280 | MT-ND5 | c.940_942del (p.Ile314del) | |
MT | m.13276A= | CA2499567936 | MT-ND5 | c.940A= (p.Ile314=) | |
MT | m.13276A>C | CA414817263 | MT-ND5 | c.940A>C (p.Ile314Leu) | dbSNP |
MT | m.13276A>G | CA337099661 | MT-ND5 | c.940A>G (p.Ile314Val) | ClinVar dbSNP |
MT | m.13276A>T | CA414817266 | MT-ND5 | c.940A>T (p.Ile314Leu) | dbSNP |
MT | m.13277T>A | CA414817272 | MT-ND5 | c.941T>A (p.Ile314Lys) | |
MT | m.13277T>C | CA414817269 | MT-ND5 | c.941T>C (p.Ile314Thr) | |
MT | m.13277T>G | CA414817270 | MT-ND5 | c.941T>G (p.Ile314Arg) | |
MT | m.13277T= | CA2573323813 | MT-ND5 | c.941T= (p.Ile314=) | |
MT | m.13278A= | CA2499567937 | MT-ND5 | c.942A= (p.Ile314=) | |
MT | m.13278A>C | CA913170869 | MT-ND5 | c.942A>C (p.Ile314=) | |
MT | m.13278A>G | CA414817275 | MT-ND5 | c.942A>G (p.Ile314Met) | dbSNP |
MT | m.13278A>T | CA913170868 | MT-ND5 | c.942A>T (p.Ile314=) | |
MT | m.13279G>A | CA414817277 | MT-ND5 | c.943G>A (p.Val315Ile) | ClinVar dbSNP |
MT | m.13279G>C | CA414817279 | MT-ND5 | c.943G>C (p.Val315Leu) | |
MT | m.13279G= | CA2499567938 | MT-ND5 | c.943G= (p.Val315=) | |
MT | m.13279G>T | CA414817281 | MT-ND5 | c.943G>T (p.Val315Phe) | |
MT | m.13280T>A | CA414817283 | MT-ND5 | c.944T>A (p.Val315Asp) | |
MT | m.13280T>C | CA414817285 | MT-ND5 | c.944T>C (p.Val315Ala) | |
MT | m.13280T>G | CA414817287 | MT-ND5 | c.944T>G (p.Val315Gly) | |
MT | m.13280T= | CA2573323823 | MT-ND5 | c.944T= (p.Val315=) | |
MT | m.13281T>A | CA913170870 | MT-ND5 | c.945T>A (p.Val315=) | |
MT | m.13281T>C | CA337099662 | MT-ND5 | c.945T>C (p.Val315=) | dbSNP COSMIC |
MT | m.13281T>G | CA913170871 | MT-ND5 | c.945T>G (p.Val315=) | |
MT | m.13281T= | CA2499567939 | MT-ND5 | c.945T= (p.Val315=) | |
MT | m.13282A= | CA2573323829 | MT-ND5 | c.946A= (p.Thr316=) | |
MT | m.13282A>C | CA414817291 | MT-ND5 | c.946A>C (p.Thr316Pro) | |
MT | m.13282A>G | CA414817292 | MT-ND5 | c.946A>G (p.Thr316Ala) | |
MT | m.13282A>T | CA414817294 | MT-ND5 | c.946A>T (p.Thr316Ser) | |
MT | m.13283C>A | CA414817301 | MT-ND5 | c.947C>A (p.Thr316Lys) | |
MT | m.13283C= | CA2573323831 | MT-ND5 | c.947C= (p.Thr316=) | |
MT | m.13283C>G | CA414817297 | MT-ND5 | c.947C>G (p.Thr316Arg) |