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.8380T>A | CA414795852 | MT-ATP8 | c.15T>A (p.Asn5Lys) | |
MT | m.8380T>C | CA913179130 | MT-ATP8 | c.15T>C (p.Asn5=) | |
MT | m.8380T>G | CA414795853 | MT-ATP8 | c.15T>G (p.Asn5Lys) | |
MT | m.8380T= | CA2573329404 | MT-ATP8 | c.15T= (p.Asn5=) | |
MT | m.8381A= | CA2499565622 | MT-ATP8 | c.16A= (p.Thr6=) | |
MT | m.8381A>C | CA414795855 | MT-ATP8 | c.16A>C (p.Thr6Pro) | |
MT | m.8381A>G | CA414795857 | MT-ATP8 | c.16A>G (p.Thr6Ala) | ClinVar dbSNP |
MT | m.8381A>T | CA414795858 | MT-ATP8 | c.16A>T (p.Thr6Ser) | ClinVar dbSNP |
MT | m.8382C>A | CA414795861 | MT-ATP8 | c.17C>A (p.Thr6Asn) | |
MT | m.8382C= | CA2499565623 | MT-ATP8 | c.17C= (p.Thr6=) | |
MT | m.8382C>G | CA414795863 | MT-ATP8 | c.17C>G (p.Thr6Ser) | |
MT | m.8382C>T | CA414795864 | MT-ATP8 | c.17C>T (p.Thr6Ile) | ClinVar dbSNP |
MT | m.8383T>A | CA913179133 | MT-ATP8 | c.18T>A (p.Thr6=) | |
MT | m.8383T>C | CA913179132 | MT-ATP8 | c.18T>C (p.Thr6=) | dbSNP |
MT | m.8383T>G | CA913179134 | MT-ATP8 | c.18T>G (p.Thr6=) | |
MT | m.8383T= | CA2499565624 | MT-ATP8 | c.18T= (p.Thr6=) | |
MT | m.8384A= | CA2499565625 | MT-ATP8 | c.19A= (p.Thr7=) | |
MT | m.8384A>C | CA414795866 | MT-ATP8 | c.19A>C (p.Thr7Pro) | |
MT | m.8384A>G | CA414795868 | MT-ATP8 | c.19A>G (p.Thr7Ala) | dbSNP |
MT | m.8384A>T | CA414795870 | MT-ATP8 | c.19A>T (p.Thr7Ser) | |
MT | m.8387_8398del | CA2573104995 | MT-ATP8 | c.22_33del (p.Val8_Thr11del) | |
MT | m.8385C>A | CA414795871 | MT-ATP8 | c.20C>A (p.Thr7Asn) | |
MT | m.8385C= | CA2573329416 | MT-ATP8 | c.20C= (p.Thr7=) | |
MT | m.8385C>G | CA414795874 | MT-ATP8 | c.20C>G (p.Thr7Ser) | |
MT | m.8385C>T | CA414795875 | MT-ATP8 | c.20C>T (p.Thr7Ile) | dbSNP |
MT | m.8386C>A | CA913179138 | MT-ATP8 | c.21C>A (p.Thr7=) | |
MT | m.8386C= | CA2499565626 | MT-ATP8 | c.21C= (p.Thr7=) | |
MT | m.8386C>G | CA913179136 | MT-ATP8 | c.21C>G (p.Thr7=) | |
MT | m.8386C>T | CA913179135 | MT-ATP8 | c.21C>T (p.Thr7=) | dbSNP |
MT | m.8387G>A | CA414795877 | MT-ATP8 | c.22G>A (p.Val8Ile) | ClinVar dbSNP |
MT | m.8387G>C | CA414795881 | MT-ATP8 | c.22G>C (p.Val8Leu) | |
MT | m.8387G= | CA2499565627 | MT-ATP8 | c.22G= (p.Val8=) | |
MT | m.8387G>T | CA414795879 | MT-ATP8 | c.22G>T (p.Val8Leu) | dbSNP |
MT | m.8388T>A | CA414795883 | MT-ATP8 | c.23T>A (p.Val8Glu) | |
MT | m.8388T>C | CA337097843 | MT-ATP8 | c.23T>C (p.Val8Ala) | ClinVar dbSNP |
MT | m.8388T>G | CA414795886 | MT-ATP8 | c.23T>G (p.Val8Gly) | |
MT | m.8388T= | CA2499565628 | MT-ATP8 | c.23T= (p.Val8=) | |
MT | m.8389A= | CA2499565629 | MT-ATP8 | c.24A= (p.Val8=) | |
MT | m.8389A>C | CA337097845 | MT-ATP8 | c.24A>C (p.Val8=) |