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.12372_12414del | CA2740098370 | MT-ND5 | c.36_78del (p.Ser14LysfsTer9) | |
MT | m.12369_12374dup | CA2740098371 | MT-ND5 | c.33_38dup (p.Thr13_Ser14insLeuThr) | |
MT | m.12372G>A | CA337099467 | MT-ND5 | c.36G>A (p.Leu12=) | ClinVar dbSNP |
MT | m.12372G>C | CA337099466 | MT-ND5 | c.36G>C (p.Leu12=) | |
MT | m.12372G= | CA2499567550 | MT-ND5 | c.36G= (p.Leu12=) | |
MT | m.12372G>T | CA337099464 | MT-ND5 | c.36G>T (p.Leu12=) | |
MT | m.12373A= | CA2499567551 | MT-ND5 | c.37A= (p.Thr13=) | |
MT | m.12373A>C | CA414812863 | MT-ND5 | c.37A>C (p.Thr13Pro) | |
MT | m.12373A>G | CA414812865 | MT-ND5 | c.37A>G (p.Thr13Ala) | ClinVar dbSNP |
MT | m.12373A>T | CA414812866 | MT-ND5 | c.37A>T (p.Thr13Ser) | |
MT | m.12374C>A | CA414812869 | MT-ND5 | c.38C>A (p.Thr13Asn) | |
MT | m.12374C= | CA2573329407 | MT-ND5 | c.38C= (p.Thr13=) | |
MT | m.12374C>G | CA414812870 | MT-ND5 | c.38C>G (p.Thr13Ser) | |
MT | m.12374C>T | CA414812872 | MT-ND5 | c.38C>T (p.Thr13Ile) | dbSNP |
MT | m.12375T>A | CA913170208 | MT-ND5 | c.39T>A (p.Thr13=) | |
MT | m.12375T>C | CA913170207 | MT-ND5 | c.39T>C (p.Thr13=) | dbSNP |
MT | m.12375T>G | CA913170206 | MT-ND5 | c.39T>G (p.Thr13=) | |
MT | m.12375T= | CA2499567552 | MT-ND5 | c.39T= (p.Thr13=) | |
MT | m.12376T>A | CA414812875 | MT-ND5 | c.40T>A (p.Ser14Thr) | |
MT | m.12376T>C | CA414812876 | MT-ND5 | c.40T>C (p.Ser14Pro) | |
MT | m.12376T>G | CA414812877 | MT-ND5 | c.40T>G (p.Ser14Ala) | |
MT | m.12376T= | CA2573329411 | MT-ND5 | c.40T= (p.Ser14=) | |
MT | m.12377C>A | CA414812880 | MT-ND5 | c.41C>A (p.Ser14Tyr) | |
MT | m.12377C= | CA2573329413 | MT-ND5 | c.41C= (p.Ser14=) | |
MT | m.12377C>G | CA414812884 | MT-ND5 | c.41C>G (p.Ser14Cys) | |
MT | m.12377C>T | CA414812882 | MT-ND5 | c.41C>T (p.Ser14Phe) | |
MT | m.12378C>A | CA913170211 | MT-ND5 | c.42C>A (p.Ser14=) | |
MT | m.12378C= | CA2499567553 | MT-ND5 | c.42C= (p.Ser14=) | |
MT | m.12378C>G | CA913170212 | MT-ND5 | c.42C>G (p.Ser14=) | |
MT | m.12378C>T | CA913170213 | MT-ND5 | c.42C>T (p.Ser14=) | dbSNP |