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.13614A= | CA2499568078 | MT-ND5 | c.1278A= (p.Ile426=) | |
MT | m.13614A>C | CA913171082 | MT-ND5 | c.1278A>C (p.Ile426=) | |
MT | m.13614A>G | CA414818763 | MT-ND5 | c.1278A>G (p.Ile426Met) | dbSNP |
MT | m.13614A>T | CA913171083 | MT-ND5 | c.1278A>T (p.Ile426=) | |
MT | m.13615A= | CA2499568079 | MT-ND5 | c.1279A= (p.Ile427=) | |
MT | m.13615A>C | CA414818765 | MT-ND5 | c.1279A>C (p.Ile427Leu) | |
MT | m.13615A>G | CA414818768 | MT-ND5 | c.1279A>G (p.Ile427Val) | ClinVar dbSNP |
MT | m.13615A>T | CA414818770 | MT-ND5 | c.1279A>T (p.Ile427Phe) | |
MT | m.13616T>A | CA414818772 | MT-ND5 | c.1280T>A (p.Ile427Asn) | |
MT | m.13616T>C | CA414818776 | MT-ND5 | c.1280T>C (p.Ile427Thr) | ClinVar dbSNP |
MT | m.13616T>G | CA414818774 | MT-ND5 | c.1280T>G (p.Ile427Ser) | |
MT | m.13616T= | CA2499568080 | MT-ND5 | c.1280T= (p.Ile427=) | |
MT | m.13620_13622del | CA2573105290 | MT-ND5 | c.1284_1286del (p.Leu429del) | |
MT | m.13617T>A | CA913171084 | MT-ND5 | c.1281T>A (p.Ile427=) | |
MT | m.13617T>C | CA337099754 | MT-ND5 | c.1281T>C (p.Ile427=) | dbSNP |
MT | m.13617T>G | CA414818779 | MT-ND5 | c.1281T>G (p.Ile427Met) | |
MT | m.13617T= | CA2499568081 | MT-ND5 | c.1281T= (p.Ile427=) | |
MT | m.13618C>A | CA414818781 | MT-ND5 | c.1282C>A (p.Leu428Ile) | |
MT | m.13618C= | CA2573324895 | MT-ND5 | c.1282C= (p.Leu428=) | |
MT | m.13618C>G | CA414818782 | MT-ND5 | c.1282C>G (p.Leu428Val) | |
MT | m.13618C>T | CA414818784 | MT-ND5 | c.1282C>T (p.Leu428Phe) | |
MT | m.13619T>A | CA414818786 | MT-ND5 | c.1283T>A (p.Leu428His) | |
MT | m.13619T>C | CA414818788 | MT-ND5 | c.1283T>C (p.Leu428Pro) | |
MT | m.13619T>G | CA414818790 | MT-ND5 | c.1283T>G (p.Leu428Arg) | |
MT | m.13619T= | CA2573324900 | MT-ND5 | c.1283T= (p.Leu428=) | |
MT | m.13620T>A | CA913171087 | MT-ND5 | c.1284T>A (p.Leu428=) | |
MT | m.13620T>C | CA913171085 | MT-ND5 | c.1284T>C (p.Leu428=) | dbSNP |
MT | m.13620T>G | CA913171086 | MT-ND5 | c.1284T>G (p.Leu428=) | |
MT | m.13620T= | CA2499568082 | MT-ND5 | c.1284T= (p.Leu428=) | |
MT | m.13621C>A | CA414818792 | MT-ND5 | c.1285C>A (p.Leu429Ile) | |
MT | m.13621C= | CA2573324903 | MT-ND5 | c.1285C= (p.Leu429=) | |
MT | m.13621C>G | CA414818794 | MT-ND5 | c.1285C>G (p.Leu429Val) | |
MT | m.13621C>T | CA414818796 | MT-ND5 | c.1285C>T (p.Leu429Phe) | |
MT | m.13622T>A | CA414818798 | MT-ND5 | c.1286T>A (p.Leu429His) | |
MT | m.13622T>C | CA414818803 | MT-ND5 | c.1286T>C (p.Leu429Pro) |