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.13630A= | CA2499568087 | MT-ND5 | c.1294A= (p.Thr432=) | |
MT | m.13630A>C | CA414818826 | MT-ND5 | c.1294A>C (p.Thr432Pro) | dbSNP |
MT | m.13630A>G | CA414818829 | MT-ND5 | c.1294A>G (p.Thr432Ala) | ClinVar dbSNP |
MT | m.13630A>T | CA414818827 | MT-ND5 | c.1294A>T (p.Thr432Ser) | |
MT | m.13631C>A | CA414818832 | MT-ND5 | c.1295C>A (p.Thr432Lys) | |
MT | m.13631C= | CA2573324966 | MT-ND5 | c.1295C= (p.Thr432=) | |
MT | m.13631C>G | CA414818833 | MT-ND5 | c.1295C>G (p.Thr432Arg) | |
MT | m.13631C>T | CA414818835 | MT-ND5 | c.1295C>T (p.Thr432Ile) | |
MT | m.13632A= | CA2499568088 | MT-ND5 | c.1296A= (p.Thr432=) | |
MT | m.13632A>C | CA913171096 | MT-ND5 | c.1296A>C (p.Thr432=) | |
MT | m.13632A>G | CA913171097 | MT-ND5 | c.1296A>G (p.Thr432=) | dbSNP |
MT | m.13632A>T | CA913171098 | MT-ND5 | c.1296A>T (p.Thr432=) | |
MT | m.13633G>A | CA414818838 | MT-ND5 | c.1297G>A (p.Gly433Ser) | dbSNP |
MT | m.13633G>C | CA414818839 | MT-ND5 | c.1297G>C (p.Gly433Arg) | |
MT | m.13633G= | CA2499568089 | MT-ND5 | c.1297G= (p.Gly433=) | |
MT | m.13633G>T | CA414818840 | MT-ND5 | c.1297G>T (p.Gly433Cys) | |
MT | m.13634G>A | CA414818841 | MT-ND5 | c.1298G>A (p.Gly433Asp) | |
MT | m.13634G>C | CA414818842 | MT-ND5 | c.1298G>C (p.Gly433Ala) | |
MT | m.13634G= | CA2573324970 | MT-ND5 | c.1298G= (p.Gly433=) | |
MT | m.13634G>T | CA414818843 | MT-ND5 | c.1298G>T (p.Gly433Val) | |
MT | m.13635T>A | CA913171099 | MT-ND5 | c.1299T>A (p.Gly433=) | dbSNP |
MT | m.13635T>C | CA10581370 | MT-ND5 | c.1299T>C (p.Gly433=) | ClinVar dbSNP |
MT | m.13635T>G | CA913171100 | MT-ND5 | c.1299T>G (p.Gly433=) | |
MT | m.13635T= | CA2499568090 | MT-ND5 | c.1299T= (p.Gly433=) | |
MT | m.13636C>A | CA414818844 | MT-ND5 | c.1300C>A (p.Gln434Lys) | |
MT | m.13636C= | CA2573324976 | MT-ND5 | c.1300C= (p.Gln434=) | |
MT | m.13636C>G | CA414818849 | MT-ND5 | c.1300C>G (p.Gln434Glu) | |
MT | m.13636C>T | CA414818847 | MT-ND5 | c.1300C>T (p.Gln434Ter) | |
MT | m.13637A= | CA2499568091 | MT-ND5 | c.1301A= (p.Gln434=) | |
MT | m.13637A>C | CA414818850 | MT-ND5 | c.1301A>C (p.Gln434Pro) | |
MT | m.13637A>G | CA344822 | MT-ND5 | c.1301A>G (p.Gln434Arg) | ClinVar dbSNP |
MT | m.13637A>T | CA414818852 | MT-ND5 | c.1301A>T (p.Gln434Leu) | |
MT | m.13638A= | CA2499568092 | MT-ND5 | c.1302A= (p.Gln434=) | |
MT | m.13638A>C | CA414818856 | MT-ND5 | c.1302A>C (p.Gln434His) | |
MT | m.13638A>G | CA913171101 | MT-ND5 | c.1302A>G (p.Gln434=) | dbSNP |