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.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) | |
MT | m.8495del | CA2573105004 | MT-ATP8 | c.130del (p.Ile44Ter) | |
MT | m.8492A= | CA2499565699 | MT-ATP8 | c.127A= (p.Lys43=) | |
MT | m.8492A>C | CA414796329 | MT-ATP8 | c.127A>C (p.Lys43Gln) | |
MT | m.8492A>G | CA414796333 | MT-ATP8 | c.127A>G (p.Lys43Glu) | dbSNP |
MT | m.8492A>T | CA414796335 | MT-ATP8 | c.127A>T (p.Lys43Ter) | |
MT | m.8493A= | CA2573329638 | MT-ATP8 | c.128A= (p.Lys43=) | |
MT | m.8493A>C | CA414796337 | MT-ATP8 | c.128A>C (p.Lys43Thr) | |
MT | m.8493A>G | CA414796339 | MT-ATP8 | c.128A>G (p.Lys43Arg) | |
MT | m.8493A>T | CA414796341 | MT-ATP8 | c.128A>T (p.Lys43Ile) | |
MT | m.8494A= | CA2499565700 | MT-ATP8 | c.129A= (p.Lys43=) | |
MT | m.8494A>C | CA414796343 | MT-ATP8 | c.129A>C (p.Lys43Asn) | |
MT | m.8494A>G | CA913179297 | MT-ATP8 | c.129A>G (p.Lys43=) | dbSNP |
MT | m.8494A>T | CA414796345 | MT-ATP8 | c.129A>T (p.Lys43Asn) | |
MT | m.8495A= | CA2573329639 | MT-ATP8 | c.130A= (p.Ile44=) | |
MT | m.8495A>C | CA414796351 | MT-ATP8 | c.130A>C (p.Ile44Leu) | |
MT | m.8495A>G | CA414796348 | MT-ATP8 | c.130A>G (p.Ile44Val) |