| 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.8363G>A | CA120555 | ClinVar dbSNP | ||
| MT | m.8363G>C | CA913179103 | |||
| MT | m.8363G= | CA2499565615 | |||
| MT | m.8363G>T | CA913179102 | |||
| MT | m.8364A= | CA2499565616 | |||
| MT | m.8364A>C | CA913179105 | |||
| MT | m.8364A>G | CA913179107 | |||
| MT | m.8364A>T | CA913179106 | ClinVar dbSNP | ||
| MT | m.8365A= | CA2573329368 | |||
| MT | m.8365A>C | CA2573329369 | |||
| MT | m.8365A>G | CA2573104992 | |||
| MT | m.8365A>T | CA2573329371 | |||
| MT | m.8365_8366insT | CA2573104993 | MT-ATP8 | c.1-1_1insT (n.1-1_1insT) | |
| MT | m.8366A= | CA2573329373 | MT-ATP8 | c.1A= (p.Met1=) | |
| MT | m.8366A>C | CA414795789 | MT-ATP8 | c.1A>C (p.Met1Leu) | |
| MT | m.8366A>G | CA414795790 | MT-ATP8 | c.1A>G (p.Met1Val) | |
| MT | m.8366A>T | CA414795792 | MT-ATP8 | c.1A>T (p.Met1Leu) | |
| MT | m.8367T>A | CA414795794 | MT-ATP8 | c.2T>A (p.Met1Lys) | |
| MT | m.8367T>C | CA414795796 | MT-ATP8 | c.2T>C (p.Met1Thr) | |
| MT | m.8367T>G | CA414795797 | MT-ATP8 | c.2T>G (p.Met1Arg) | |
| MT | m.8367T= | CA2573329375 | MT-ATP8 | c.2T= (p.Met1=) | |
| MT | m.8368G>A | CA414795800 | MT-ATP8 | c.3G>A (p.Met1Ile) | |
| MT | m.8368G>C | CA414795804 | MT-ATP8 | c.3G>C (p.Met1Ile) | |
| MT | m.8368G= | CA2573329377 | MT-ATP8 | c.3G= (p.Met1=) | |
| MT | m.8368G>T | CA414795802 | MT-ATP8 | c.3G>T (p.Met1Ile) | |
| MT | m.8369C>A | CA414795807 | MT-ATP8 | c.4C>A (p.Pro2Thr) | |
| MT | m.8369C= | CA2499565617 | MT-ATP8 | c.4C= (p.Pro2=) | |
| MT | m.8369C>G | CA414795808 | MT-ATP8 | c.4C>G (p.Pro2Ala) | |
| MT | m.8369C>T | CA414795810 | MT-ATP8 | c.4C>T (p.Pro2Ser) | ClinVar dbSNP |
| MT | m.8372dup | CA2573104994 | MT-ATP8 | c.7dup (p.Gln3ProfsTer?) | |
| MT | m.8370C>A | CA414795812 | MT-ATP8 | c.5C>A (p.Pro2His) | |
| MT | m.8370C= | CA2573329381 | MT-ATP8 | c.5C= (p.Pro2=) | |
| MT | m.8370C>G | CA414795814 | MT-ATP8 | c.5C>G (p.Pro2Arg) | |
| MT | m.8370C>T | CA414795815 | MT-ATP8 | c.5C>T (p.Pro2Leu) | |
| MT | m.8371C>A | CA913179114 | MT-ATP8 | c.6C>A (p.Pro2=) | |
| MT | m.8371C= | CA2573329382 | MT-ATP8 | c.6C= (p.Pro2=) | |
| MT | m.8371C>G | CA913179116 | MT-ATP8 | c.6C>G (p.Pro2=) | |
| MT | m.8371C>T | CA913179115 | MT-ATP8 | c.6C>T (p.Pro2=) | dbSNP |
| MT | m.8372C>A | CA414795818 | MT-ATP8 | c.7C>A (p.Gln3Lys) |