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.9062_16052del | CA2580618296 | |||
MT | m.9137T>A | CA414802283 | MT-ATP6 | c.611T>A (p.Ile204Asn) | |
MT | m.9137T>C | CA414802285 | MT-ATP6 | c.611T>C (p.Ile204Thr) | ClinVar dbSNP |
MT | m.9137T>G | CA414802284 | MT-ATP6 | c.611T>G (p.Ile204Ser) | |
MT | m.9137T= | CA2499566141 | MT-ATP6 | c.611T= (p.Ile204=) | |
MT | m.9138C>A | CA913181253 | MT-ATP6 | c.612C>A (p.Ile204=) | |
MT | m.9138C= | CA2499566142 | MT-ATP6 | c.612C= (p.Ile204=) | |
MT | m.9138C>G | CA414802286 | MT-ATP6 | c.612C>G (p.Ile204Met) | |
MT | m.9138C>T | CA913181252 | MT-ATP6 | c.612C>T (p.Ile204=) | dbSNP |
MT | m.9139G>A | CA337098238 | MT-ATP6 | c.613G>A (p.Ala205Thr) | ClinVar dbSNP |
MT | m.9139G>C | CA414802287 | MT-ATP6 | c.613G>C (p.Ala205Pro) | |
MT | m.9139G= | CA2499566143 | MT-ATP6 | c.613G= (p.Ala205=) | |
MT | m.9139G>T | CA414802288 | MT-ATP6 | c.613G>T (p.Ala205Ser) | |
MT | m.9140C>A | CA414802289 | MT-ATP6 | c.614C>A (p.Ala205Asp) | |
MT | m.9140C= | CA2499566144 | MT-ATP6 | c.614C= (p.Ala205=) | |
MT | m.9140C>G | CA414802290 | MT-ATP6 | c.614C>G (p.Ala205Gly) | |
MT | m.9140C>T | CA337098239 | MT-ATP6 | c.614C>T (p.Ala205Val) | ClinVar dbSNP |
MT | m.9141T>A | CA913181259 | MT-ATP6 | c.615T>A (p.Ala205=) | |
MT | m.9141T>C | CA913181258 | MT-ATP6 | c.615T>C (p.Ala205=) | dbSNP |
MT | m.9141T>G | CA913181257 | MT-ATP6 | c.615T>G (p.Ala205=) | |
MT | m.9141T= | CA2499566145 | MT-ATP6 | c.615T= (p.Ala205=) | |
MT | m.9142G>A | CA337098241 | MT-ATP6 | c.616G>A (p.Val206Ile) | ClinVar dbSNP |
MT | m.9142G>C | CA414802291 | MT-ATP6 | c.616G>C (p.Val206Leu) | dbSNP |
MT | m.9142G= | CA2499566146 | MT-ATP6 | c.616G= (p.Val206=) | |
MT | m.9142G>T | CA414802292 | MT-ATP6 | c.616G>T (p.Val206Phe) | |
MT | m.9143T>A | CA414802295 | MT-ATP6 | c.617T>A (p.Val206Asp) | |
MT | m.9143T>C | CA414802294 | MT-ATP6 | c.617T>C (p.Val206Ala) | |
MT | m.9143T>G | CA414802293 | MT-ATP6 | c.617T>G (p.Val206Gly) | |
MT | m.9143T= | CA2573321616 | MT-ATP6 | c.617T= (p.Val206=) | |
MT | m.9144C>A | CA913181262 | MT-ATP6 | c.618C>A (p.Val206=) | |
MT | m.9144C= | CA2573321619 | MT-ATP6 | c.618C= (p.Val206=) | |
MT | m.9144C>G | CA913181261 | MT-ATP6 | c.618C>G (p.Val206=) | |
MT | m.9144C>T | CA913181260 | MT-ATP6 | c.618C>T (p.Val206=) | |
MT | m.9145G>A | CA414802296 | MT-ATP6 | c.619G>A (p.Ala207Thr) | ClinVar dbSNP COSMIC COSMIC |