| 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.8529G>A | CA120593 | MT-ATP6,MT-ATP8 | c.164G>A (p.Ter55=) c.3G>A (p.Met1Ile) | ClinVar dbSNP |
| MT | m.8529G>C | CA414796520 | MT-ATP6,MT-ATP8 | c.164G>C (p.Ter55Ser) c.3G>C (p.Met1Ile) | |
| MT | m.8529G= | CA414796522 | MT-ATP6,MT-ATP8 | c.164G= (p.Ter55=) c.3G= (p.Met1=) | |
| MT | m.8529G>T | CA414796523 | MT-ATP6,MT-ATP8 | c.164G>T (p.Ter55Leu) c.3G>T (p.Met1Ile) | |
| MT | m.8530A= | CA414796529 | MT-ATP6,MT-ATP8 | c.165A= (p.Ter55=) c.4A= (p.Asn2=) | |
| MT | m.8530A>C | CA414796524 | MT-ATP6,MT-ATP8 | c.165A>C (p.Ter55Cys) c.4A>C (p.Asn2His) | |
| MT | m.8530A>G | CA414796527 | MT-ATP6,MT-ATP8 | c.165A>G (p.Ter55Trp) c.4A>G (p.Asn2Asp) | ClinVar dbSNP |
| MT | m.8530A>T | CA414796525 | MT-ATP6,MT-ATP8 | c.165A>T (p.Ter55Cys) c.4A>T (p.Asn2Tyr) | |
| MT | m.8531A= | CA913179357 | MT-ATP6,MT-ATP8 | c.166A= (p.Thr56=) c.5A= (p.Asn2=) | |
| MT | m.8531A>C | CA414796531 | MT-ATP6,MT-ATP8 | c.166A>C (p.Thr56Pro) c.5A>C (p.Asn2Thr) | |
| MT | m.8531A>G | CA414796533 | MT-ATP6,MT-ATP8 | c.166A>G (p.Thr56Ala) c.5A>G (p.Asn2Ser) | ClinVar dbSNP |
| MT | m.8531A>T | CA414796535 | MT-ATP6,MT-ATP8 | c.166A>T (p.Thr56Ser) c.5A>T (p.Asn2Ile) | |
| MT | m.8532C>A | CA414796537 | MT-ATP6,MT-ATP8 | c.167C>A (p.Thr56Lys) c.6C>A (p.Asn2Lys) | |
| MT | m.8532C= | CA2499565721 | MT-ATP6,MT-ATP8 | c.167C= (p.Thr56=) c.6C= (p.Asn2=) | |
| MT | m.8532C>G | CA414796539 | MT-ATP6,MT-ATP8 | c.167C>G (p.Thr56Arg) c.6C>G (p.Asn2Lys) | |
| MT | m.8532C>T | CA414796541 | MT-ATP6,MT-ATP8 | c.167C>T (p.Thr56Met) c.6C>T (p.Asn2=) | dbSNP |
| MT | m.8533G>A | CA337097912 | MT-ATP6,MT-ATP8 | c.168G>A (p.Thr56=) c.7G>A (p.Glu3Lys) | ClinVar dbSNP |
| MT | m.8533G>C | CA414796544 | MT-ATP6,MT-ATP8 | c.168G>C (p.Thr56=) c.7G>C (p.Glu3Gln) | |
| MT | m.8533G= | CA2499565722 | MT-ATP6,MT-ATP8 | c.168G= (p.Thr56=) c.7G= (p.Glu3=) | |
| MT | m.8533G>T | CA414796547 | MT-ATP6,MT-ATP8 | c.168G>T (p.Thr56=) c.7G>T (p.Glu3Ter) | |
| MT | m.8534A= | CA2573329730 | MT-ATP6,MT-ATP8 | c.169A= (p.Lys57=) c.8A= (p.Glu3=) | |
| MT | m.8534A>C | CA414796552 | MT-ATP6,MT-ATP8 | c.169A>C (p.Lys57Gln) c.8A>C (p.Glu3Ala) | |
| MT | m.8534A>G | CA414796551 | MT-ATP6,MT-ATP8 | c.169A>G (p.Lys57Glu) c.8A>G (p.Glu3Gly) | |
| MT | m.8534A>T | CA414796549 | MT-ATP6,MT-ATP8 | c.169A>T (p.Lys57Ter) c.8A>T (p.Glu3Val) | |
| MT | m.8535A= | CA2573329732 | MT-ATP6,MT-ATP8 | c.170A= (p.Lys57=) c.9A= (p.Glu3=) | |
| MT | m.8535A>C | CA414796554 | MT-ATP6,MT-ATP8 | c.170A>C (p.Lys57Thr) c.9A>C (p.Glu3Asp) | |
| MT | m.8535A>G | CA414796556 | MT-ATP6,MT-ATP8 | c.170A>G (p.Lys57Arg) c.9A>G (p.Glu3=) | |
| MT | m.8535A>T | CA414796558 | MT-ATP6,MT-ATP8 | c.170A>T (p.Lys57Ile) c.9A>T (p.Glu3Asp) | |
| MT | m.8536A= | CA2573329735 | MT-ATP6,MT-ATP8 | c.171A= (p.Lys57=) c.10A= (p.Asn4=) | |
| MT | m.8536A>C | CA414796560 | MT-ATP6,MT-ATP8 | c.171A>C (p.Lys57Asn) c.10A>C (p.Asn4His) | |
| MT | m.8536A>G | CA414796561 | MT-ATP6,MT-ATP8 | c.171A>G (p.Lys57=) c.10A>G (p.Asn4Asp) | |
| MT | m.8536A>T | CA414796563 | MT-ATP6,MT-ATP8 | c.171A>T (p.Lys57Asn) c.10A>T (p.Asn4Tyr) | |
| MT | m.8537A= | CA2499565723 | MT-ATP6,MT-ATP8 | c.172A= (p.Ile58=) c.11A= (p.Asn4=) | |
| MT | m.8537A>C | CA414796565 | MT-ATP6,MT-ATP8 | c.172A>C (p.Ile58Leu) c.11A>C (p.Asn4Thr) | |
| MT | m.8537A>G | CA414796566 | MT-ATP6,MT-ATP8 | c.172A>G (p.Ile58Val) c.11A>G (p.Asn4Ser) | ClinVar dbSNP |
| MT | m.8537A>T | CA414796567 | MT-ATP6,MT-ATP8 | c.172A>T (p.Ile58Phe) c.11A>T (p.Asn4Ile) | |
| MT | m.8537_8538insCCAACGC | CA2740098134 | MT-ATP6,MT-ATP8 | c.172_173insCCAACGC (p.Ile58ThrfsTer?) c.11_12insCCAACGC (p.Leu5GlnfsTer?) |