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.8483A= | CA2499565693 | MT-ATP8 | c.118A= (p.Lys40=) | |
MT | m.8483A>C | CA414796289 | MT-ATP8 | c.118A>C (p.Lys40Gln) | |
MT | m.8483A>G | CA337097900 | MT-ATP8 | c.118A>G (p.Lys40Glu) | dbSNP |
MT | m.8483A>T | CA414796292 | MT-ATP8 | c.118A>T (p.Lys40Ter) | |
MT | m.8484A= | CA2513196715 | MT-ATP8 | c.119A= (p.Lys40=) | |
MT | m.8484A>C | CA414796293 | MT-ATP8 | c.119A>C (p.Lys40Thr) | |
MT | m.8484A>G | CA414796297 | MT-ATP8 | c.119A>G (p.Lys40Arg) | |
MT | m.8484A>T | CA414796295 | MT-ATP8 | c.119A>T (p.Lys40Met) | |
MT | m.8485G>A | CA337097902 | MT-ATP8 | c.120G>A (p.Lys40=) | dbSNP |
MT | m.8485G>C | CA414796299 | MT-ATP8 | c.120G>C (p.Lys40Asn) | |
MT | m.8485G= | CA2499565694 | MT-ATP8 | c.120G= (p.Lys40=) | |
MT | m.8485G>T | CA414796301 | MT-ATP8 | c.120G>T (p.Lys40Asn) | dbSNP |
MT | m.8486C>A | CA414796304 | MT-ATP8 | c.121C>A (p.Pro41Thr) | |
MT | m.8486C= | CA2499565695 | MT-ATP8 | c.121C= (p.Pro41=) | |
MT | m.8486C>G | CA414796305 | MT-ATP8 | c.121C>G (p.Pro41Ala) | |
MT | m.8486C>T | CA414796307 | MT-ATP8 | c.121C>T (p.Pro41Ser) | dbSNP |
MT | m.8487C>A | CA414796310 | MT-ATP8 | c.122C>A (p.Pro41His) | |
MT | m.8487C= | CA2573329627 | MT-ATP8 | c.122C= (p.Pro41=) | |
MT | m.8487C>G | CA414796311 | MT-ATP8 | c.122C>G (p.Pro41Arg) | |
MT | m.8487C>T | CA414796312 | MT-ATP8 | c.122C>T (p.Pro41Leu) | |
MT | m.8488C>A | CA913179290 | MT-ATP8 | c.123C>A (p.Pro41=) | |
MT | m.8488C= | CA2499565696 | MT-ATP8 | c.123C= (p.Pro41=) | |
MT | m.8488C>G | CA913179289 | MT-ATP8 | c.123C>G (p.Pro41=) | dbSNP |
MT | m.8488C>T | CA913179288 | MT-ATP8 | c.123C>T (p.Pro41=) | dbSNP |
MT | m.8489A= | CA2499565697 | MT-ATP8 | c.124A= (p.Ile42=) | |
MT | m.8489A>C | CA414796318 | MT-ATP8 | c.124A>C (p.Ile42Leu) | |
MT | m.8489A>G | CA414796317 | MT-ATP8 | c.124A>G (p.Ile42Val) | ClinVar dbSNP |
MT | m.8489A>T | CA414796315 | MT-ATP8 | c.124A>T (p.Ile42Leu) | |
MT | m.8490T>A | CA414796321 | MT-ATP8 | c.125T>A (p.Ile42Lys) | |
MT | m.8490T>C | CA414796323 | MT-ATP8 | c.125T>C (p.Ile42Thr) | ClinVar dbSNP |
MT | m.8490T>G | CA414796324 | MT-ATP8 | c.125T>G (p.Ile42Arg) | |
MT | m.8490T= | CA2499565698 | MT-ATP8 | c.125T= (p.Ile42=) | |
MT | m.8491A= | CA2573329635 | MT-ATP8 | c.126A= (p.Ile42=) | |
MT | m.8491A>C | CA913179295 | MT-ATP8 | c.126A>C (p.Ile42=) | |
MT | m.8491A>G | CA414796327 | MT-ATP8 | c.126A>G (p.Ile42Met) | |
MT | m.8491A>T | CA913179294 | MT-ATP8 | c.126A>T (p.Ile42=) | |
MT | m.8495dup | CA2740098132 | MT-ATP8 | c.130dup (p.Ile44AsnfsTer5) |