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.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.13708_13755del | CA2740098359 | MT-ND5 | c.1372_1419del (p.Ala458_Ser473del) | |
MT | m.13721T>A | CA414819225 | MT-ND5 | c.1385T>A (p.Leu462Gln) | |
MT | m.13721T>C | CA414819221 | MT-ND5 | c.1385T>C (p.Leu462Pro) | |
MT | m.13721T>G | CA414819223 | MT-ND5 | c.1385T>G (p.Leu462Arg) | |
MT | m.13721T= | CA2573325257 | MT-ND5 | c.1385T= (p.Leu462=) | |
MT | m.13722del | CA2740098362 | MT-ND5 | c.1386del (p.Phe463SerfsTer24) | |
MT | m.13722A= | CA2499568130 | MT-ND5 | c.1386A= (p.Leu462=) | |
MT | m.13722A>C | CA337099781 | MT-ND5 | c.1386A>C (p.Leu462=) | |
MT | m.13722A>G | CA16603314 | MT-ND5 | c.1386A>G (p.Leu462=) | ClinVar dbSNP |
MT | m.13722A>T | CA337099783 | MT-ND5 | c.1386A>T (p.Leu462=) | |
MT | m.13723T>A | CA414819231 | MT-ND5 | c.1387T>A (p.Phe463Ile) | |
MT | m.13723T>C | CA414819232 | MT-ND5 | c.1387T>C (p.Phe463Leu) | |
MT | m.13723T>G | CA414819234 | MT-ND5 | c.1387T>G (p.Phe463Val) | |
MT | m.13723T= | CA2573325269 | MT-ND5 | c.1387T= (p.Phe463=) | |
MT | m.13724T>A | CA414819236 | MT-ND5 | c.1388T>A (p.Phe463Tyr) | |
MT | m.13724T>C | CA414819238 | MT-ND5 | c.1388T>C (p.Phe463Ser) | |
MT | m.13724T>G | CA414819239 | MT-ND5 | c.1388T>G (p.Phe463Cys) | |
MT | m.13724T= | CA2513284093 | MT-ND5 | c.1388T= (p.Phe463=) | |
MT | m.13725C>A | CA414819242 | MT-ND5 | c.1389C>A (p.Phe463Leu) | |
MT | m.13725C= | CA2499568131 | MT-ND5 | c.1389C= (p.Phe463=) | |
MT | m.13725C>G | CA414819243 | MT-ND5 | c.1389C>G (p.Phe463Leu) | |
MT | m.13725C>T | CA913171159 | MT-ND5 | c.1389C>T (p.Phe463=) | dbSNP |
MT | m.13726G>A | CA414819246 | MT-ND5 | c.1390G>A (p.Ala464Thr) | ClinVar dbSNP |
MT | m.13726G>C | CA414819249 | MT-ND5 | c.1390G>C (p.Ala464Pro) | |
MT | m.13726G= | CA2499568132 | MT-ND5 | c.1390G= (p.Ala464=) | |
MT | m.13726G>T | CA414819248 | MT-ND5 | c.1390G>T (p.Ala464Ser) | |
MT | m.13727C>A | CA414819252 | MT-ND5 | c.1391C>A (p.Ala464Glu) | |
MT | m.13727C= | CA2573325278 | MT-ND5 | c.1391C= (p.Ala464=) | |
MT | m.13727C>G | CA414819254 | MT-ND5 | c.1391C>G (p.Ala464Gly) | |
MT | m.13727C>T | CA414819255 | MT-ND5 | c.1391C>T (p.Ala464Val) | |
MT | m.13728A= | CA2573325280 | MT-ND5 | c.1392A= (p.Ala464=) | |
MT | m.13728A>C | CA913171160 | MT-ND5 | c.1392A>C (p.Ala464=) | |
MT | m.13728A>G | CA913171161 | MT-ND5 | c.1392A>G (p.Ala464=) | |
MT | m.13728A>T | CA913171162 | MT-ND5 | c.1392A>T (p.Ala464=) | |
MT | m.13729G>A | CA414819258 | MT-ND5 | c.1393G>A (p.Gly465Arg) | dbSNP |