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.7386_7388del | CA2573104849 | MT-CO1 | c.1483_1485del (p.Leu495del) | |
MT | m.7386C>A | CA414792675 | MT-CO1 | c.1483C>A (p.Leu495Ile) | |
MT | m.7386C= | CA2573327253 | MT-CO1 | c.1483C= (p.Leu495=) | |
MT | m.7386C>G | CA414792677 | MT-CO1 | c.1483C>G (p.Leu495Val) | |
MT | m.7386C>T | CA913176998 | MT-CO1 | c.1483C>T (p.Leu495=) | |
MT | m.7387T>A | CA414792679 | MT-CO1 | c.1484T>A (p.Leu495Gln) | |
MT | m.7387T>C | CA414792680 | MT-CO1 | c.1484T>C (p.Leu495Pro) | |
MT | m.7387T>G | CA414792682 | MT-CO1 | c.1484T>G (p.Leu495Arg) | |
MT | m.7387T= | CA2573327255 | MT-CO1 | c.1484T= (p.Leu495=) | |
MT | m.7390_7391del | CA2573104850 | MT-CO1 | c.1487_1488del (p.Tyr496TrpfsTer18) | |
MT | m.7388A= | CA2499565150 | MT-CO1 | c.1485A= (p.Leu495=) | |
MT | m.7388A>C | CA913177000 | MT-CO1 | c.1485A>C (p.Leu495=) | |
MT | m.7388A>G | CA913176999 | MT-CO1 | c.1485A>G (p.Leu495=) | dbSNP |
MT | m.7388A>T | CA913177001 | MT-CO1 | c.1485A>T (p.Leu495=) | |
MT | m.7389T>A | CA414792687 | MT-CO1 | c.1486T>A (p.Tyr496Asn) | |
MT | m.7389T>C | CA337097609 | MT-CO1 | c.1486T>C (p.Tyr496His) | ClinVar dbSNP |
MT | m.7389T>G | CA414792684 | MT-CO1 | c.1486T>G (p.Tyr496Asp) | |
MT | m.7389T= | CA2499565151 | MT-CO1 | c.1486T= (p.Tyr496=) | |
MT | m.7390A= | CA2573327260 | MT-CO1 | c.1487A= (p.Tyr496=) | |
MT | m.7390A>C | CA414792689 | MT-CO1 | c.1487A>C (p.Tyr496Ser) | |
MT | m.7390A>G | CA414792690 | MT-CO1 | c.1487A>G (p.Tyr496Cys) | |
MT | m.7390A>T | CA414792692 | MT-CO1 | c.1487A>T (p.Tyr496Phe) | |
MT | m.7391del | CA2573104851 | MT-CO1 | c.1488del (p.Tyr496Ter) | |
MT | m.7391T>A | CA414792694 | MT-CO1 | c.1488T>A (p.Tyr496Ter) | |
MT | m.7391T>C | CA913177002 | MT-CO1 | c.1488T>C (p.Tyr496=) | dbSNP |
MT | m.7391T>G | CA414792696 | MT-CO1 | c.1488T>G (p.Tyr496Ter) | |
MT | m.7391T= | CA2499565152 | MT-CO1 | c.1488T= (p.Tyr496=) | |
MT | m.7392G>A | CA414792698 | MT-CO1 | c.1489G>A (p.Gly497Arg) | |
MT | m.7392G>C | CA414792699 | MT-CO1 | c.1489G>C (p.Gly497Arg) | |
MT | m.7392G= | CA2573327261 | MT-CO1 | c.1489G= (p.Gly497=) | |
MT | m.7392G>T | CA414792701 | MT-CO1 | c.1489G>T (p.Gly497Ter) | |
MT | m.7393G>A | CA414792703 | MT-CO1 | c.1490G>A (p.Gly497Glu) | dbSNP |
MT | m.7393G>C | CA414792705 | MT-CO1 | c.1490G>C (p.Gly497Ala) | |
MT | m.7393G= | CA2499565153 | MT-CO1 | c.1490G= (p.Gly497=) | |
MT | m.7393G>T | CA414792707 | MT-CO1 | c.1490G>T (p.Gly497Val) | |
MT | m.7394A= | CA2499565154 | MT-CO1 | c.1491A= (p.Gly497=) | |
MT | m.7394A>C | CA913177005 | MT-CO1 | c.1491A>C (p.Gly497=) | |
MT | m.7394A>G | CA913177004 | MT-CO1 | c.1491A>G (p.Gly497=) | dbSNP |
MT | m.7394A>T | CA913177003 | MT-CO1 | c.1491A>T (p.Gly497=) | |
MT | m.7394_7399del | CA2573104852 | MT-CO1 | c.1491_1496del (p.Cys498_Pro499del) | |
MT | m.7395T>A | CA414792711 | MT-CO1 | c.1492T>A (p.Cys498Ser) | |
MT | m.7395T>C | CA414792713 | MT-CO1 | c.1492T>C (p.Cys498Arg) |