| 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.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | 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.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.12848C>A | CA414815151 | MT-ND5 | c.512C>A (p.Ala171Glu) | |
| MT | m.12848C= | CA2499567757 | MT-ND5 | c.512C= (p.Ala171=) | |
| MT | m.12848C>G | CA414815153 | MT-ND5 | c.512C>G (p.Ala171Gly) | |
| MT | m.12848C>T | CA340937 | MT-ND5 | c.512C>T (p.Ala171Val) | ClinVar dbSNP |
| MT | m.12849A= | CA2499567758 | MT-ND5 | c.513A= (p.Ala171=) | |
| MT | m.12849A>C | CA913170562 | MT-ND5 | c.513A>C (p.Ala171=) | |
| MT | m.12849A>G | CA913170563 | MT-ND5 | c.513A>G (p.Ala171=) | |
| MT | m.12849A>T | CA913170564 | MT-ND5 | c.513A>T (p.Ala171=) | dbSNP |
| MT | m.12850A= | CA2499567759 | MT-ND5 | c.514A= (p.Ile172=) | |
| MT | m.12850A>C | CA414815156 | MT-ND5 | c.514A>C (p.Ile172Leu) | |
| MT | m.12850A>G | CA337099554 | MT-ND5 | c.514A>G (p.Ile172Val) | ClinVar dbSNP |
| MT | m.12850A>T | CA414815157 | MT-ND5 | c.514A>T (p.Ile172Phe) | |
| MT | m.12851T>A | CA414815161 | MT-ND5 | c.515T>A (p.Ile172Asn) | |
| MT | m.12851T>C | CA414815162 | MT-ND5 | c.515T>C (p.Ile172Thr) | ClinVar dbSNP |
| MT | m.12851T>G | CA414815164 | MT-ND5 | c.515T>G (p.Ile172Ser) | |
| MT | m.12851T= | CA2499567760 | MT-ND5 | c.515T= (p.Ile172=) | |
| MT | m.12852C>A | CA913170565 | MT-ND5 | c.516C>A (p.Ile172=) | |
| MT | m.12852C= | CA2573321822 | MT-ND5 | c.516C= (p.Ile172=) | |
| MT | m.12852C>G | CA414815167 | MT-ND5 | c.516C>G (p.Ile172Met) | |
| MT | m.12852C>T | CA913170566 | MT-ND5 | c.516C>T (p.Ile172=) | dbSNP |
| MT | m.12853C>A | CA414815168 | MT-ND5 | c.517C>A (p.Leu173Ile) | |
| MT | m.12853C= | CA2499567761 | MT-ND5 | c.517C= (p.Leu173=) | |
| MT | m.12853C>G | CA414815171 | MT-ND5 | c.517C>G (p.Leu173Val) | |
| MT | m.12853C>T | CA337099556 | MT-ND5 | c.517C>T (p.Leu173=) | dbSNP |
| MT | m.12854T>A | CA414815175 | MT-ND5 | c.518T>A (p.Leu173Gln) | |
| MT | m.12854T>C | CA414815176 | MT-ND5 | c.518T>C (p.Leu173Pro) | COSMIC |
| MT | m.12854T>G | CA414815178 | MT-ND5 | c.518T>G (p.Leu173Arg) | |
| MT | m.12854T= | CA2573321832 | MT-ND5 | c.518T= (p.Leu173=) | |
| MT | m.12855A= | CA2499567762 | MT-ND5 | c.519A= (p.Leu173=) | |
| MT | m.12855A>C | CA913170567 | MT-ND5 | c.519A>C (p.Leu173=) | dbSNP |