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.8587_12967del | CA645373337 | ClinVar | ||
MT | m.8815_13722del | CA645373338 | ClinVar | ||
MT | m.8839_14895del | CA645373339 | ClinVar | ||
MT | m.8962A= | CA2499566015 | MT-ATP6 | c.436A= (p.Thr146=) | |
MT | m.8962A>C | CA414801669 | MT-ATP6 | c.436A>C (p.Thr146Pro) | |
MT | m.8962A>G | CA414801667 | MT-ATP6 | c.436A>G (p.Thr146Ala) | ClinVar dbSNP |
MT | m.8962A>T | CA414801666 | MT-ATP6 | c.436A>T (p.Thr146Ser) | dbSNP |
MT | m.8963C>A | CA414801672 | MT-ATP6 | c.437C>A (p.Thr146Asn) | |
MT | m.8963C= | CA2499566016 | MT-ATP6 | c.437C= (p.Thr146=) | |
MT | m.8963C>G | CA414801673 | MT-ATP6 | c.437C>G (p.Thr146Ser) | |
MT | m.8963C>T | CA414801675 | MT-ATP6 | c.437C>T (p.Thr146Ile) | dbSNP |
MT | m.8964C>A | CA913180927 | MT-ATP6 | c.438C>A (p.Thr146=) | |
MT | m.8964C= | CA2499566017 | MT-ATP6 | c.438C= (p.Thr146=) | |
MT | m.8964C>G | CA913180928 | MT-ATP6 | c.438C>G (p.Thr146=) | |
MT | m.8964C>T | CA337098127 | MT-ATP6 | c.438C>T (p.Thr146=) | dbSNP |
MT | m.8965A= | CA2573330638 | MT-ATP6 | c.439A= (p.Ile147=) | |
MT | m.8965A>C | CA414801679 | MT-ATP6 | c.439A>C (p.Ile147Leu) | |
MT | m.8965A>G | CA414801680 | MT-ATP6 | c.439A>G (p.Ile147Val) | |
MT | m.8965A>T | CA414801682 | MT-ATP6 | c.439A>T (p.Ile147Phe) | |
MT | m.8966T>A | CA414801685 | MT-ATP6 | c.440T>A (p.Ile147Asn) | |
MT | m.8966T>C | CA414801686 | MT-ATP6 | c.440T>C (p.Ile147Thr) | ClinVar dbSNP |
MT | m.8966T>G | CA414801688 | MT-ATP6 | c.440T>G (p.Ile147Ser) | dbSNP |
MT | m.8966T= | CA2499566018 | MT-ATP6 | c.440T= (p.Ile147=) | |
MT | m.8967C>A | CA913180934 | MT-ATP6 | c.441C>A (p.Ile147=) | dbSNP |
MT | m.8967C= | CA2499566019 | MT-ATP6 | c.441C= (p.Ile147=) | |
MT | m.8967C>G | CA414801690 | MT-ATP6 | c.441C>G (p.Ile147Met) | |
MT | m.8967C>T | CA913180933 | MT-ATP6 | c.441C>T (p.Ile147=) | dbSNP |
MT | m.8968A= | CA2573330648 | MT-ATP6 | c.442A= (p.Ser148=) | |
MT | m.8968A>C | CA414801696 | MT-ATP6 | c.442A>C (p.Ser148Arg) | |
MT | m.8968A>G | CA414801692 | MT-ATP6 | c.442A>G (p.Ser148Gly) | |
MT | m.8968A>T | CA414801694 | MT-ATP6 | c.442A>T (p.Ser148Cys) | |
MT | m.8969G>A | CA199769 | MT-ATP6 | c.443G>A (p.Ser148Asn) | ClinVar dbSNP |
MT | m.8969G>C | CA414801699 | MT-ATP6 | c.443G>C (p.Ser148Thr) | dbSNP |
MT | m.8969G= | CA2499566020 | MT-ATP6 | c.443G= (p.Ser148=) | |
MT | m.8969G>T | CA414801701 | MT-ATP6 | c.443G>T (p.Ser148Ile) | |
MT | m.8970C>A | CA414801703 | MT-ATP6 | c.444C>A (p.Ser148Arg) | |
MT | m.8970C= | CA2499566021 | MT-ATP6 | c.444C= (p.Ser148=) |