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.6005_11222del | CA645373331 | ClinVar | ||
MT | m.6470_15588del | CA645373332 | ClinVar | ||
MT | m.7129_13991del | CA645373333 | ClinVar | ||
MT | m.7731_11256del | CA645373334 | 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.8851T>A | CA414798477 | MT-ATP6 | c.325T>A (p.Ter109Arg) | |
MT | m.8851T>C | CA120598 | MT-ATP6 | c.325T>C (p.Ter109Arg) | ClinVar dbSNP |
MT | m.8851T>G | CA414798481 | MT-ATP6 | c.325T>G (p.Ter109Gly) | |
MT | m.8851T= | CA414798483 | MT-ATP6 | c.325T= (p.Ter109=) | |
MT | m.8852G>A | CA414798496 | MT-ATP6 | c.326G>A (p.Ter109=) | |
MT | m.8852G>C | CA414798488 | MT-ATP6 | c.326G>C (p.Ter109Ser) | |
MT | m.8852G= | CA414798493 | MT-ATP6 | c.326G= (p.Ter109=) | |
MT | m.8852G>T | CA414798491 | MT-ATP6 | c.326G>T (p.Ter109Leu) | |
MT | m.8853_8856dup | CA2740098163 | MT-ATP6 | c.327_330dup (p.Gly111SerfsTer11) | |
MT | m.8853A= | CA414798500 | MT-ATP6 | c.327A= (p.Ter109=) | |
MT | m.8853A>C | CA414798502 | MT-ATP6 | c.327A>C (p.Ter109Cys) | |
MT | m.8853A>G | CA337098069 | MT-ATP6 | c.327A>G (p.Ter109Trp) | dbSNP |
MT | m.8853A>T | CA414798505 | MT-ATP6 | c.327A>T (p.Ter109Cys) | |
MT | m.8854G>A | CA414798511 | MT-ATP6 | c.328G>A (p.Ala110Thr) | ClinVar dbSNP |
MT | m.8854G>C | CA337098072 | MT-ATP6 | c.328G>C (p.Ala110Pro) | |
MT | m.8854G= | CA2499565935 | MT-ATP6 | c.328G= (p.Ala110=) | |
MT | m.8854G>T | CA337098075 | MT-ATP6 | c.328G>T (p.Ala110Ser) | |
MT | m.8855C>A | CA414798518 | MT-ATP6 | c.329C>A (p.Ala110Glu) | |
MT | m.8855C= | CA2573330328 | MT-ATP6 | c.329C= (p.Ala110=) | |
MT | m.8855C>G | CA414798520 | MT-ATP6 | c.329C>G (p.Ala110Gly) | |
MT | m.8855C>T | CA414798522 | MT-ATP6 | c.329C>T (p.Ala110Val) | dbSNP |
MT | m.8856G>A | CA10581373 | MT-ATP6 | c.330G>A (p.Ala110=) | ClinVar dbSNP |
MT | m.8856G>C | CA913180542 | MT-ATP6 | c.330G>C (p.Ala110=) | dbSNP |
MT | m.8856G= | CA2499565936 | MT-ATP6 | c.330G= (p.Ala110=) | |
MT | m.8856G>T | CA913180540 | MT-ATP6 | c.330G>T (p.Ala110=) | |
MT | m.8857G>A | CA337098080 | MT-ATP6 | c.331G>A (p.Gly111Ser) | ClinVar dbSNP |
MT | m.8857G>C | CA414798528 | MT-ATP6 | c.331G>C (p.Gly111Arg) | |
MT | m.8857G= | CA2499565937 | MT-ATP6 | c.331G= (p.Gly111=) | |
MT | m.8857G>T | CA414798530 | MT-ATP6 | c.331G>T (p.Gly111Cys) | |
MT | m.8858G>A | CA414798536 | MT-ATP6 | c.332G>A (p.Gly111Asp) | |
MT | m.8858G>C | CA414798538 | MT-ATP6 | c.332G>C (p.Gly111Ala) | |
MT | m.8858G= | CA2573330349 | MT-ATP6 | c.332G= (p.Gly111=) | |
MT | m.8858G>T | CA414798540 | MT-ATP6 | c.332G>T (p.Gly111Val) | |
MT | m.8859C>A | CA913180565 | MT-ATP6 | c.333C>A (p.Gly111=) |