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.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 |
MT | m.12379C>A | CA414812887 | MT-ND5 | c.43C>A (p.Leu15Ile) | |
MT | m.12379C= | CA2499567554 | MT-ND5 | c.43C= (p.Leu15=) | |
MT | m.12379C>G | CA414812888 | MT-ND5 | c.43C>G (p.Leu15Val) | |
MT | m.12379C>T | CA913170214 | MT-ND5 | c.43C>T (p.Leu15=) | dbSNP |
MT | m.12380T>A | CA414812891 | MT-ND5 | c.44T>A (p.Leu15Gln) | |
MT | m.12380T>C | CA414812893 | MT-ND5 | c.44T>C (p.Leu15Pro) | |
MT | m.12380T>G | CA414812894 | MT-ND5 | c.44T>G (p.Leu15Arg) | |
MT | m.12380T= | CA2573329415 | MT-ND5 | c.44T= (p.Leu15=) | |
MT | m.12380_12384del | CA2573105236 | MT-ND5 | c.44_48del (p.Leu15ProfsTer9) | |
MT | m.12381A= | CA2499567555 | MT-ND5 | c.45A= (p.Leu15=) | |
MT | m.12381A>C | CA913170216 | MT-ND5 | c.45A>C (p.Leu15=) | |
MT | m.12381A>G | CA913170220 | MT-ND5 | c.45A>G (p.Leu15=) | dbSNP |
MT | m.12381A>T | CA913170218 | MT-ND5 | c.45A>T (p.Leu15=) | |
MT | m.12382A= | CA2499567556 | MT-ND5 | c.46A= (p.Ile16=) | |
MT | m.12382A>C | CA414812897 | MT-ND5 | c.46A>C (p.Ile16Leu) | |
MT | m.12382A>G | CA414812899 | MT-ND5 | c.46A>G (p.Ile16Val) | ClinVar dbSNP |
MT | m.12382A>T | CA414812900 | MT-ND5 | c.46A>T (p.Ile16Phe) | |
MT | m.12383T>A | CA414812906 | MT-ND5 | c.47T>A (p.Ile16Asn) | |
MT | m.12383T>C | CA414812905 | MT-ND5 | c.47T>C (p.Ile16Thr) | ClinVar dbSNP |
MT | m.12383T>G | CA414812904 | MT-ND5 | c.47T>G (p.Ile16Ser) | |
MT | m.12383T= | CA2499567557 | MT-ND5 | c.47T= (p.Ile16=) |