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.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.13005A= | CA2573322603 | MT-ND5 | c.669A= (p.Lys223=) | |
MT | m.13005A>C | CA414815871 | MT-ND5 | c.669A>C (p.Lys223Asn) | |
MT | m.13005A>G | CA913170676 | MT-ND5 | c.669A>G (p.Lys223=) | dbSNP |
MT | m.13005A>T | CA414815872 | MT-ND5 | c.669A>T (p.Lys223Asn) | |
MT | m.13006T>A | CA414815876 | MT-ND5 | c.670T>A (p.Ser224Thr) | |
MT | m.13006T>C | CA414815877 | MT-ND5 | c.670T>C (p.Ser224Pro) | |
MT | m.13006T>G | CA414815879 | MT-ND5 | c.670T>G (p.Ser224Ala) | |
MT | m.13006T= | CA2573322612 | MT-ND5 | c.670T= (p.Ser224=) | |
MT | m.13007C>A | CA414815882 | MT-ND5 | c.671C>A (p.Ser224Ter) | |
MT | m.13007C= | CA2573322618 | MT-ND5 | c.671C= (p.Ser224=) | |
MT | m.13007C>G | CA414815885 | MT-ND5 | c.671C>G (p.Ser224Ter) | |
MT | m.13007C>T | CA414815883 | MT-ND5 | c.671C>T (p.Ser224Leu) | |
MT | m.13008A= | CA2499567820 | MT-ND5 | c.672A= (p.Ser224=) | |
MT | m.13008A>C | CA913170677 | MT-ND5 | c.672A>C (p.Ser224=) | |
MT | m.13008A>G | CA913170678 | MT-ND5 | c.672A>G (p.Ser224=) | dbSNP |
MT | m.13008A>T | CA913170679 | MT-ND5 | c.672A>T (p.Ser224=) | |
MT | m.13009G>A | CA414815888 | MT-ND5 | c.673G>A (p.Ala225Thr) | |
MT | m.13009G>C | CA414815889 | MT-ND5 | c.673G>C (p.Ala225Pro) | |
MT | m.13009G= | CA2573322632 | MT-ND5 | c.673G= (p.Ala225=) | |
MT | m.13009G>T | CA414815891 | MT-ND5 | c.673G>T (p.Ala225Ser) | |
MT | m.13010C>A | CA414815893 | MT-ND5 | c.674C>A (p.Ala225Asp) | |
MT | m.13010C= | CA2573322636 | MT-ND5 | c.674C= (p.Ala225=) | |
MT | m.13010C>G | CA414815895 | MT-ND5 | c.674C>G (p.Ala225Gly) | |
MT | m.13010C>T | CA414815897 | MT-ND5 | c.674C>T (p.Ala225Val) | |
MT | m.13011_13012del | CA2573105245 | MT-ND5 | c.675_676del (p.Gln226IlefsTer?) | |
MT | m.13011C>A | CA913170680 | MT-ND5 | c.675C>A (p.Ala225=) | |
MT | m.13011C= | CA2499567821 | MT-ND5 | c.675C= (p.Ala225=) | |
MT | m.13011C>G | CA913170681 | MT-ND5 | c.675C>G (p.Ala225=) | |
MT | m.13011C>T | CA913170682 | MT-ND5 | c.675C>T (p.Ala225=) | dbSNP |
MT | m.13012C>A | CA414815899 | MT-ND5 | c.676C>A (p.Gln226Lys) | |
MT | m.13012C= | CA2573322646 | MT-ND5 | c.676C= (p.Gln226=) |