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.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 |
MT | m.9145G>C | CA414802297 | MT-ATP6 | c.619G>C (p.Ala207Pro) | |
MT | m.9145G= | CA2499566147 | MT-ATP6 | c.619G= (p.Ala207=) | |
MT | m.9145G>T | CA414802298 | MT-ATP6 | c.619G>T (p.Ala207Ser) | |
MT | m.9146C>A | CA414802299 | MT-ATP6 | c.620C>A (p.Ala207Asp) | |
MT | m.9146C= | CA2573321627 | MT-ATP6 | c.620C= (p.Ala207=) | |
MT | m.9146C>G | CA414802300 | MT-ATP6 | c.620C>G (p.Ala207Gly) | |
MT | m.9146C>T | CA414802301 | MT-ATP6 | c.620C>T (p.Ala207Val) | |
MT | m.9147C>A | CA913181267 | MT-ATP6 | c.621C>A (p.Ala207=) | |
MT | m.9147C= | CA2573321632 | MT-ATP6 | c.621C= (p.Ala207=) | |
MT | m.9147C>G | CA913181266 | MT-ATP6 | c.621C>G (p.Ala207=) | |
MT | m.9147C>T | CA913181265 | MT-ATP6 | c.621C>T (p.Ala207=) | |
MT | m.9148T>A | CA414802302 | MT-ATP6 | c.622T>A (p.Leu208Ile) | |
MT | m.9148T>C | CA913181269 | MT-ATP6 | c.622T>C (p.Leu208=) | dbSNP |
MT | m.9148T>G | CA414802303 | MT-ATP6 | c.622T>G (p.Leu208Val) | |
MT | m.9148T= | CA2499566148 | MT-ATP6 | c.622T= (p.Leu208=) | |
MT | m.9149T>A | CA414802304 | MT-ATP6 | c.623T>A (p.Leu208Ter) | |
MT | m.9149T>C | CA414802305 | MT-ATP6 | c.623T>C (p.Leu208Ser) | |
MT | m.9149T>G | CA414802306 | MT-ATP6 | c.623T>G (p.Leu208Ter) | |
MT | m.9149T= | CA2573321639 | MT-ATP6 | c.623T= (p.Leu208=) | |
MT | m.9150A= | CA2499566149 | MT-ATP6 | c.624A= (p.Leu208=) | |
MT | m.9150A>C | CA337098244 | MT-ATP6 | c.624A>C (p.Leu208Phe) | |
MT | m.9150A>G | CA913181272 | MT-ATP6 | c.624A>G (p.Leu208=) | dbSNP |
MT | m.9150A>T | CA337098246 | MT-ATP6 | c.624A>T (p.Leu208Phe) | |
MT | m.9151A= | CA2499566150 | MT-ATP6 | c.625A= (p.Ile209=) | |
MT | m.9151A>C | CA414802307 | MT-ATP6 | c.625A>C (p.Ile209Leu) | |
MT | m.9151A>G | CA337098248 | MT-ATP6 | c.625A>G (p.Ile209Val) | ClinVar dbSNP |
MT | m.9151A>T | CA414802308 | MT-ATP6 | c.625A>T (p.Ile209Phe) | |
MT | m.9152T>A | CA414802309 | MT-ATP6 | c.626T>A (p.Ile209Asn) | |
MT | m.9152T>C | CA10581404 | MT-ATP6 | c.626T>C (p.Ile209Thr) | ClinVar dbSNP |
MT | m.9152T>G | CA414802310 | MT-ATP6 | c.626T>G (p.Ile209Ser) | |
MT | m.9152T= | CA2499566151 | MT-ATP6 | c.626T= (p.Ile209=) | |
MT | m.9153C>A | CA913181276 | MT-ATP6 | c.627C>A (p.Ile209=) | |
MT | m.9153C= | CA2573321666 | MT-ATP6 | c.627C= (p.Ile209=) | |
MT | m.9153C>G | CA414802311 | MT-ATP6 | c.627C>G (p.Ile209Met) | |
MT | m.9153C>T | CA913181275 | MT-ATP6 | c.627C>T (p.Ile209=) | |
MT | m.9154C>A | CA414802312 | MT-ATP6 | c.628C>A (p.Gln210Lys) | |
MT | m.9154C= | CA2573321672 | MT-ATP6 | c.628C= (p.Gln210=) | |
MT | m.9154C>G | CA414802313 | MT-ATP6 | c.628C>G (p.Gln210Glu) | |
MT | m.9154C>T | CA414802314 | MT-ATP6 | c.628C>T (p.Gln210Ter) | |
MT | m.9155A= | CA2573321679 | MT-ATP6 | c.629A= (p.Gln210=) | |
MT | m.9155A>C | CA414802315 | MT-ATP6 | c.629A>C (p.Gln210Pro) | |
MT | m.9155A>G | CA414802316 | MT-ATP6 | c.629A>G (p.Gln210Arg) | ClinVar |
MT | m.9155A>T | CA414802317 | MT-ATP6 | c.629A>T (p.Gln210Leu) | |
MT | m.9156del | CA2573105024 | MT-ATP6 | c.630del (p.Ala211ProfsTer7) | |
MT | m.9156A= | CA2499566152 | MT-ATP6 | c.630A= (p.Gln210=) | |
MT | m.9156A>C | CA414802318 | MT-ATP6 | c.630A>C (p.Gln210His) | |
MT | m.9156A>G | CA337098251 | MT-ATP6 | c.630A>G (p.Gln210=) | dbSNP |
MT | m.9156A>T | CA414802319 | MT-ATP6 | c.630A>T (p.Gln210His) | |
MT | m.9157G>A | CA414802320 | MT-ATP6 | c.631G>A (p.Ala211Thr) | ClinVar dbSNP |
MT | m.9157G>C | CA414802321 | MT-ATP6 | c.631G>C (p.Ala211Pro) | |
MT | m.9157G= | CA2499566153 | MT-ATP6 | c.631G= (p.Ala211=) | |
MT | m.9157G>T | CA414802322 | MT-ATP6 | c.631G>T (p.Ala211Ser) | |
MT | m.9158C>A | CA414802323 | MT-ATP6 | c.632C>A (p.Ala211Asp) | |
MT | m.9158C= | CA2573321687 | MT-ATP6 | c.632C= (p.Ala211=) | |
MT | m.9158C>G | CA414802324 | MT-ATP6 | c.632C>G (p.Ala211Gly) | |
MT | m.9158C>T | CA414802325 | MT-ATP6 | c.632C>T (p.Ala211Val) | |
MT | m.9159C>A | CA913181282 | MT-ATP6 | c.633C>A (p.Ala211=) | |
MT | m.9159C= | CA2573321691 | MT-ATP6 | c.633C= (p.Ala211=) | |
MT | m.9159C>G | CA913181281 | MT-ATP6 | c.633C>G (p.Ala211=) | |
MT | m.9159C>T | CA913181280 | MT-ATP6 | c.633C>T (p.Ala211=) | |
MT | m.9160T>A | CA414802326 | MT-ATP6 | c.634T>A (p.Tyr212Asn) | |
MT | m.9160T>C | CA414802327 | MT-ATP6 | c.634T>C (p.Tyr212His) | ClinVar dbSNP |
MT | m.9160T>G | CA414802328 | MT-ATP6 | c.634T>G (p.Tyr212Asp) | |
MT | m.9160T= | CA2499566154 | MT-ATP6 | c.634T= (p.Tyr212=) | |
MT | m.9161A= | CA2573321701 | MT-ATP6 | c.635A= (p.Tyr212=) | |
MT | m.9161A>C | CA414802329 | MT-ATP6 | c.635A>C (p.Tyr212Ser) | |
MT | m.9161A>G | CA414802331 | MT-ATP6 | c.635A>G (p.Tyr212Cys) | |
MT | m.9161A>T | CA414802330 | MT-ATP6 | c.635A>T (p.Tyr212Phe) | |
MT | m.9162C>A | CA414802332 | MT-ATP6 | c.636C>A (p.Tyr212Ter) | |
MT | m.9162C= | CA2499566155 | MT-ATP6 | c.636C= (p.Tyr212=) | |
MT | m.9162C>G | CA414802333 | MT-ATP6 | c.636C>G (p.Tyr212Ter) | |
MT | m.9162C>T | CA913181287 | MT-ATP6 | c.636C>T (p.Tyr212=) | dbSNP |
MT | m.9163G>A | CA337098253 | MT-ATP6 | c.637G>A (p.Val213Ile) | ClinVar dbSNP COSMIC COSMIC |
MT | m.9163G>C | CA414802335 | MT-ATP6 | c.637G>C (p.Val213Leu) | |
MT | m.9163G= | CA2499566156 | MT-ATP6 | c.637G= (p.Val213=) | |
MT | m.9163G>T | CA414802334 | MT-ATP6 | c.637G>T (p.Val213Phe) | |
MT | m.9164T>A | CA414802336 | MT-ATP6 | c.638T>A (p.Val213Asp) | |
MT | m.9164T>C | CA414802337 | MT-ATP6 | c.638T>C (p.Val213Ala) | |
MT | m.9164T>G | CA414802338 | MT-ATP6 | c.638T>G (p.Val213Gly) | |
MT | m.9164T= | CA2573321724 | MT-ATP6 | c.638T= (p.Val213=) | |
MT | m.9165T>A | CA913181291 | MT-ATP6 | c.639T>A (p.Val213=) | |
MT | m.9165T>C | CA913181290 | MT-ATP6 | c.639T>C (p.Val213=) | dbSNP |
MT | m.9165T>G | CA913181289 | MT-ATP6 | c.639T>G (p.Val213=) | |
MT | m.9165T= | CA2499566157 | MT-ATP6 | c.639T= (p.Val213=) | |
MT | m.9166T>A | CA414802339 | MT-ATP6 | c.640T>A (p.Phe214Ile) | |
MT | m.9166T>C | CA16040651 | MT-ATP6 | c.640T>C (p.Phe214Leu) | ClinVar dbSNP |
MT | m.9166T>G | CA414802340 | MT-ATP6 | c.640T>G (p.Phe214Val) | |
MT | m.9166T= | CA2499566158 | MT-ATP6 | c.640T= (p.Phe214=) | |
MT | m.9167T>A | CA414802341 | MT-ATP6 | c.641T>A (p.Phe214Tyr) | |
MT | m.9167T>C | CA414802342 | MT-ATP6 | c.641T>C (p.Phe214Ser) | ClinVar dbSNP |
MT | m.9167T>G | CA414802343 | MT-ATP6 | c.641T>G (p.Phe214Cys) | |
MT | m.9167T= | CA2499566159 | MT-ATP6 | c.641T= (p.Phe214=) | |
MT | m.9168C>A | CA414802344 | MT-ATP6 | c.642C>A (p.Phe214Leu) | |
MT | m.9168C= | CA2573321740 | MT-ATP6 | c.642C= (p.Phe214=) | |
MT | m.9168C>G | CA414802345 | MT-ATP6 | c.642C>G (p.Phe214Leu) | |
MT | m.9168C>T | CA913181299 | MT-ATP6 | c.642C>T (p.Phe214=) | |
MT | m.9169A= | CA2499566160 | MT-ATP6 | c.643A= (p.Thr215=) | |
MT | m.9169A>C | CA414802346 | MT-ATP6 | c.643A>C (p.Thr215Pro) | |
MT | m.9169A>G | CA414802348 | MT-ATP6 | c.643A>G (p.Thr215Ala) | ClinVar dbSNP |
MT | m.9169A>T | CA414802347 | MT-ATP6 | c.643A>T (p.Thr215Ser) | |
MT | m.9170C>A | CA414802349 | MT-ATP6 | c.644C>A (p.Thr215Lys) | |
MT | m.9170C= | CA2499566161 | MT-ATP6 | c.644C= (p.Thr215=) | |
MT | m.9170C>G | CA414802350 | MT-ATP6 | c.644C>G (p.Thr215Arg) | |
MT | m.9170C>T | CA414802351 | MT-ATP6 | c.644C>T (p.Thr215Ile) | ClinVar dbSNP |
MT | m.9171A= | CA2573321753 | MT-ATP6 | c.645A= (p.Thr215=) | |
MT | m.9171A>C | CA913181308 | MT-ATP6 | c.645A>C (p.Thr215=) | |
MT | m.9171A>G | CA913181307 | MT-ATP6 | c.645A>G (p.Thr215=) | dbSNP |
MT | m.9171A>T | CA913181306 | MT-ATP6 | c.645A>T (p.Thr215=) | |
MT | m.9172C>A | CA414802352 | MT-ATP6 | c.646C>A (p.Leu216Ile) | |
MT | m.9172C= | CA2573321758 | MT-ATP6 | c.646C= (p.Leu216=) | |
MT | m.9172C>G | CA414802353 | MT-ATP6 | c.646C>G (p.Leu216Val) | |
MT | m.9172C>T | CA414802354 | MT-ATP6 | c.646C>T (p.Leu216Phe) | |
MT | m.9173T>A | CA414802355 | MT-ATP6 | c.647T>A (p.Leu216His) | |
MT | m.9173T>C | CA414802356 | MT-ATP6 | c.647T>C (p.Leu216Pro) | |
MT | m.9173T>G | CA414802357 | MT-ATP6 | c.647T>G (p.Leu216Arg) | |
MT | m.9173T= | CA2573321762 | MT-ATP6 | c.647T= (p.Leu216=) | |
MT | m.9174T>A | CA913181312 | MT-ATP6 | c.648T>A (p.Leu216=) | |
MT | m.9174T>C | CA913181310 | MT-ATP6 | c.648T>C (p.Leu216=) | dbSNP |
MT | m.9174T>G | CA913181309 | MT-ATP6 | c.648T>G (p.Leu216=) | |
MT | m.9174T= | CA2499566162 | MT-ATP6 | c.648T= (p.Leu216=) | |
MT | m.9175C>A | CA414802358 | MT-ATP6 | c.649C>A (p.Leu217Ile) | |
MT | m.9175C= | CA2573321770 | MT-ATP6 | c.649C= (p.Leu217=) | |
MT | m.9175C>G | CA414802359 | MT-ATP6 | c.649C>G (p.Leu217Val) | |
MT | m.9175C>T | CA913181313 | MT-ATP6 | c.649C>T (p.Leu217=) | |
MT | m.9176T>A | CA414802360 | MT-ATP6 | c.650T>A (p.Leu217Gln) | |
MT | m.9176T>C | CA120597 | MT-ATP6 | c.650T>C (p.Leu217Pro) | ClinVar dbSNP |
MT | m.9176T>G | CA340929 | MT-ATP6 | c.650T>G (p.Leu217Arg) | ClinVar dbSNP |
MT | m.9176T= | CA2499566163 | MT-ATP6 | c.650T= (p.Leu217=) | |
MT | m.9177A= | CA2573321784 | MT-ATP6 | c.651A= (p.Leu217=) | |
MT | m.9177A>C | CA913181317 | MT-ATP6 | c.651A>C (p.Leu217=) | |
MT | m.9177A>G | CA913181316 | MT-ATP6 | c.651A>G (p.Leu217=) | |
MT | m.9177A>T | CA913181315 | MT-ATP6 | c.651A>T (p.Leu217=) | |
MT | m.9178G>A | CA414802361 | MT-ATP6 | c.652G>A (p.Val218Ile) | |
MT | m.9178G>C | CA414802362 | MT-ATP6 | c.652G>C (p.Val218Leu) | |
MT | m.9178G= | CA2573321788 | MT-ATP6 | c.652G= (p.Val218=) | |
MT | m.9178G>T | CA414802363 | MT-ATP6 | c.652G>T (p.Val218Leu) | |
MT | m.9179T>A | CA414802364 | MT-ATP6 | c.653T>A (p.Val218Glu) | |
MT | m.9179T>C | CA414802365 | MT-ATP6 | c.653T>C (p.Val218Ala) | ClinVar dbSNP |
MT | m.9179T>G | CA414802366 | MT-ATP6 | c.653T>G (p.Val218Gly) | |
MT | m.9179T= | CA2499566164 | MT-ATP6 | c.653T= (p.Val218=) | |
MT | m.9180A= | CA2499566165 | MT-ATP6 | c.654A= (p.Val218=) | |
MT | m.9180A>C | CA913181324 | MT-ATP6 | c.654A>C (p.Val218=) | dbSNP |
MT | m.9180A>G | CA337098261 | MT-ATP6 | c.654A>G (p.Val218=) | dbSNP |
MT | m.9180A>T | CA913181322 | MT-ATP6 | c.654A>T (p.Val218=) | |
MT | m.9181A= | CA2499566166 | MT-ATP6 | c.655A= (p.Ser219=) | |
MT | m.9181A>C | CA414802369 | MT-ATP6 | c.655A>C (p.Ser219Arg) | |
MT | m.9181A>G | CA414802368 | MT-ATP6 | c.655A>G (p.Ser219Gly) | ClinVar dbSNP |
MT | m.9181A>T | CA414802367 | MT-ATP6 | c.655A>T (p.Ser219Cys) | |
MT | m.9182G>A | CA414802370 | MT-ATP6 | c.656G>A (p.Ser219Asn) | ClinVar dbSNP |
MT | m.9182G>C | CA414802371 | MT-ATP6 | c.656G>C (p.Ser219Thr) | |
MT | m.9182G= | CA2499566167 | MT-ATP6 | c.656G= (p.Ser219=) | |
MT | m.9182G>T | CA414802372 | MT-ATP6 | c.656G>T (p.Ser219Ile) | |
MT | m.9183C>A | CA414802373 | MT-ATP6 | c.657C>A (p.Ser219Arg) | |
MT | m.9183C= | CA2573321813 | MT-ATP6 | c.657C= (p.Ser219=) | |
MT | m.9183C>G | CA414802374 | MT-ATP6 | c.657C>G (p.Ser219Arg) | |
MT | m.9183C>T | CA913181326 | MT-ATP6 | c.657C>T (p.Ser219=) | |
MT | m.9184C>A | CA414802375 | MT-ATP6 | c.658C>A (p.Leu220Ile) | |
MT | m.9184C= | CA2499566168 | MT-ATP6 | c.658C= (p.Leu220=) | |
MT | m.9184C>G | CA414802376 | MT-ATP6 | c.658C>G (p.Leu220Val) | |
MT | m.9184C>T | CA337098262 | MT-ATP6 | c.658C>T (p.Leu220Phe) | dbSNP |
MT | m.9185T>A | CA414802377 | MT-ATP6 | c.659T>A (p.Leu220His) | |
MT | m.9185T>C | CA340928 | MT-ATP6 | c.659T>C (p.Leu220Pro) | ClinVar dbSNP |
MT | m.9185T>G | CA414802378 | MT-ATP6 | c.659T>G (p.Leu220Arg) | dbSNP |
MT | m.9185T= | CA2499566169 | MT-ATP6 | c.659T= (p.Leu220=) | |
MT | m.9186C>A | CA913181330 | MT-ATP6 | c.660C>A (p.Leu220=) | dbSNP |
MT | m.9186C= | CA2499566170 | MT-ATP6 | c.660C= (p.Leu220=) | |
MT | m.9186C>G | CA913181329 | MT-ATP6 | c.660C>G (p.Leu220=) | |
MT | m.9186C>T | CA913181331 | MT-ATP6 | c.660C>T (p.Leu220=) | dbSNP |
MT | m.9187T>A | CA414802380 | MT-ATP6 | c.661T>A (p.Tyr221Asn) | |
MT | m.9187T>C | CA414802381 | MT-ATP6 | c.661T>C (p.Tyr221His) | dbSNP |
MT | m.9187T>G | CA414802379 | MT-ATP6 | c.661T>G (p.Tyr221Asp) | |
MT | m.9187T= | CA2499566171 | MT-ATP6 | c.661T= (p.Tyr221=) | |
MT | m.9188A= | CA2499566172 | MT-ATP6 | c.662A= (p.Tyr221=) | |
MT | m.9188A>C | CA414802384 | MT-ATP6 | c.662A>C (p.Tyr221Ser) | |
MT | m.9188A>G | CA414802382 | MT-ATP6 | c.662A>G (p.Tyr221Cys) | ClinVar dbSNP |
MT | m.9188A>T | CA414802383 | MT-ATP6 | c.662A>T (p.Tyr221Phe) | |
MT | m.9189C>A | CA414802385 | MT-ATP6 | c.663C>A (p.Tyr221Ter) | |
MT | m.9189C= | CA2499566173 | MT-ATP6 | c.663C= (p.Tyr221=) | |
MT | m.9189C>G | CA414802386 | MT-ATP6 | c.663C>G (p.Tyr221Ter) | |
MT | m.9189C>T | CA913181335 | MT-ATP6 | c.663C>T (p.Tyr221=) | dbSNP |
MT | m.9190C>A | CA414802387 | MT-ATP6 | c.664C>A (p.Leu222Met) | |
MT | m.9190C= | CA2499566174 | MT-ATP6 | c.664C= (p.Leu222=) | |
MT | m.9190C>G | CA414802388 | MT-ATP6 | c.664C>G (p.Leu222Val) | |
MT | m.9190C>T | CA414802389 | MT-ATP6 | c.664C>T (p.Leu222=) | dbSNP COSMIC COSMIC |
MT | m.9191T>A | CA414802390 | MT-ATP6 | c.665T>A (p.Leu222Gln) | |
MT | m.9191T>C | CA345914 | MT-ATP6 | c.665T>C (p.Leu222Pro) | ClinVar dbSNP |
MT | m.9191T>G | CA414802391 | MT-ATP6 | c.665T>G (p.Leu222Arg) | |
MT | m.9191T= | CA2499566175 | MT-ATP6 | c.665T= (p.Leu222=) | |
MT | m.9192G>A | CA913181339 | MT-ATP6 | c.666G>A (p.Leu222=) | dbSNP |
MT | m.9192G>C | CA337098268 | MT-ATP6 | c.666G>C (p.Leu222=) | |
MT | m.9192G= | CA2499566176 | MT-ATP6 | c.666G= (p.Leu222=) | |
MT | m.9192G>T | CA337098266 | MT-ATP6 | c.666G>T (p.Leu222=) | |
MT | m.9193C>A | CA414802394 | MT-ATP6 | c.667C>A (p.His223Asn) | |
MT | m.9193C= | CA2573321850 | MT-ATP6 | c.667C= (p.His223=) | |
MT | m.9193C>G | CA414802392 | MT-ATP6 | c.667C>G (p.His223Asp) | |
MT | m.9193C>T | CA414802393 | MT-ATP6 | c.667C>T (p.His223Tyr) | |
MT | m.9194A= | CA2499566177 | MT-ATP6 | c.668A= (p.His223=) | |
MT | m.9194A>C | CA414802395 | MT-ATP6 | c.668A>C (p.His223Pro) | |
MT | m.9194A>G | CA414802396 | MT-ATP6 | c.668A>G (p.His223Arg) | ClinVar dbSNP |
MT | m.9194A>T | CA414802397 | MT-ATP6 | c.668A>T (p.His223Leu) | |
MT | m.9195C>A | CA414802398 | MT-ATP6 | c.669C>A (p.His223Gln) | |
MT | m.9195C= | CA2573321853 | MT-ATP6 | c.669C= (p.His223=) | |
MT | m.9195C>G | CA414802399 | MT-ATP6 | c.669C>G (p.His223Gln) | |
MT | m.9195C>T | CA913181343 | MT-ATP6 | c.669C>T (p.His223=) | |
MT | m.9196G>A | CA337098270 | MT-ATP6 | c.670G>A (p.Asp224Asn) | ClinVar dbSNP COSMIC COSMIC |
MT | m.9196G>C | CA414802400 | MT-ATP6 | c.670G>C (p.Asp224His) | |
MT | m.9196G= | CA2499566178 | MT-ATP6 | c.670G= (p.Asp224=) | |
MT | m.9196G>T | CA414802401 | MT-ATP6 | c.670G>T (p.Asp224Tyr) | |
MT | m.9197A= | CA2573321902 | MT-ATP6 | c.671A= (p.Asp224=) | |
MT | m.9197A>C | CA414802402 | MT-ATP6 | c.671A>C (p.Asp224Ala) | |
MT | m.9197A>G | CA414802403 | MT-ATP6 | c.671A>G (p.Asp224Gly) | |
MT | m.9197A>T | CA414802404 | MT-ATP6 | c.671A>T (p.Asp224Val) | |
MT | m.9198C>A | CA414802405 | MT-ATP6 | c.672C>A (p.Asp224Glu) | |
MT | m.9198C= | CA2499566179 | MT-ATP6 | c.672C= (p.Asp224=) | |
MT | m.9198C>G | CA414802406 | MT-ATP6 | c.672C>G (p.Asp224Glu) | |
MT | m.9198C>T | CA913181347 | MT-ATP6 | c.672C>T (p.Asp224=) | dbSNP |
MT | m.9199A= | CA2573321905 | MT-ATP6 | c.673A= (p.Asn225=) | |
MT | m.9199A>C | CA414802407 | MT-ATP6 | c.673A>C (p.Asn225His) | |
MT | m.9199A>G | CA414802408 | MT-ATP6 | c.673A>G (p.Asn225Asp) | |
MT | m.9199A>T | CA414802409 | MT-ATP6 | c.673A>T (p.Asn225Tyr) | |
MT | m.9200A= | CA2573321909 | MT-ATP6 | c.674A= (p.Asn225=) | |
MT | m.9200A>C | CA414802410 | MT-ATP6 | c.674A>C (p.Asn225Thr) | |
MT | m.9200A>G | CA414802411 | MT-ATP6 | c.674A>G (p.Asn225Ser) | |
MT | m.9200A>T | CA414802412 | MT-ATP6 | c.674A>T (p.Asn225Ile) | |
MT | m.9201C>A | CA414802413 | MT-ATP6 | c.675C>A (p.Asn225Lys) | |
MT | m.9201C= | CA2499566180 | MT-ATP6 | c.675C= (p.Asn225=) | |
MT | m.9201C>G | CA414802414 | MT-ATP6 | c.675C>G (p.Asn225Lys) | |
MT | m.9201C>T | CA913181350 | MT-ATP6 | c.675C>T (p.Asn225=) | dbSNP |
MT | m.9202A= | CA2499566181 | MT-ATP6 | c.676A= (p.Thr226=) | |
MT | m.9202A>C | CA414802415 | MT-ATP6 | c.676A>C (p.Thr226Pro) | |
MT | m.9202A>G | CA414802416 | MT-ATP6 | c.676A>G (p.Thr226Ala) | ClinVar dbSNP |
MT | m.9202A>T | CA414802417 | MT-ATP6 | c.676A>T (p.Thr226Ser) | dbSNP |
MT | m.9203C>A | CA414802420 | MT-ATP6 | c.677C>A (p.Thr226Lys) | |
MT | m.9203C= | CA2499566182 | MT-ATP6 | c.677C= (p.Thr226=) | |
MT | m.9203C>G | CA414802419 | MT-ATP6 | c.677C>G (p.Thr226Arg) | |
MT | m.9203C>T | CA414802418 | MT-ATP6 | c.677C>T (p.Thr226Ile) | dbSNP |
MT | m.9203_9205delinsCAT | CA2499566183 | MT-ATP6 | c.677_679delinsCAT (p.Thr226=) | |
MT | m.9204A= | CA2573321923 | MT-ATP6 | c.678A= (p.Thr226=) | |
MT | m.9204A>C | CA913181356 | MT-ATP6 | c.678A>C (p.Thr226=) | |
MT | m.9204A>G | CA913181355 | MT-ATP6 | c.678A>G (p.Thr226=) | |
MT | m.9204A>T | CA913181354 | MT-ATP6 | c.678A>T (p.Thr226=) | |
MT | m.9205_9206del | CA120599 | MT-ATP6 | c.679_680del (p.Ter227=) | ClinVar dbSNP |
MT | m.9205T>A | CA414802421 | MT-ATP6 | c.679T>A (p.Ter227Lys) | |
MT | m.9205T>C | CA414802422 | MT-ATP6 | c.679T>C (p.Ter227Gln) | ClinVar dbSNP |
MT | m.9205T>G | CA414802423 | MT-ATP6 | c.679T>G (p.Ter227Glu) | |
MT | m.9205T= | CA2499566184 | MT-ATP6 | c.679T= (p.Ter227=) | |
MT | m.9205dup | CA2740098186 | MT-ATP6 | c.679dup (p.Ter227LeuextTer?) | |
MT | m.9206A= | CA2573321929 | MT-ATP6 | c.680A= (p.Ter227=) | |
MT | m.9206A>C | CA414802424 | MT-ATP6 | c.680A>C (p.Ter227Ser) | |
MT | m.9206A>G | CA913181357 | MT-ATP6 | c.680A>G (p.Ter227=) | |
MT | m.9206A>T | CA414802425 | MT-ATP6 | c.680A>T (p.Ter227Leu) | |
MT | m.9207A= | CA2573321933 | MT-ATP6,MT-CO3 | c.681A= (p.Ter227=) c.1A= (p.Met1=) | |
MT | m.9207A>C | CA414802426 | MT-ATP6,MT-CO3 | c.681A>C (p.Ter227Tyr) c.1A>C (p.Met1Leu) | |
MT | m.9207A>G | CA414802427 | MT-ATP6,MT-CO3 | c.681A>G (p.Ter227=) c.1A>G (p.Met1Val) | |
MT | m.9207A>T | CA414802428 | MT-ATP6,MT-CO3 | c.681A>T (p.Ter227Tyr) c.1A>T (p.Met1Leu) | |
MT | m.9208T>A | CA414802429 | MT-CO3 | c.2T>A (p.Met1Lys) | |
MT | m.9208T>C | CA414802430 | MT-CO3 | c.2T>C (p.Met1Thr) | COSMIC COSMIC |
MT | m.9208T>G | CA414802431 | MT-CO3 | c.2T>G (p.Met1Arg) | |
MT | m.9208T= | CA2573321943 | MT-CO3 | c.2T= (p.Met1=) | |
MT | m.9209G>A | CA414802433 | MT-CO3 | c.3G>A (p.Met1Ile) | dbSNP |
MT | m.9209G>C | CA414802434 | MT-CO3 | c.3G>C (p.Met1Ile) | |
MT | m.9209G= | CA2499566185 | MT-CO3 | c.3G= (p.Met1=) | |
MT | m.9209G>T | CA414802432 | MT-CO3 | c.3G>T (p.Met1Ile) | |
MT | m.9210A= | CA2499566186 | MT-CO3 | c.4A= (p.Thr2=) | |
MT | m.9210A>C | CA414802435 | MT-CO3 | c.4A>C (p.Thr2Pro) | |
MT | m.9210A>G | CA414802436 | MT-CO3 | c.4A>G (p.Thr2Ala) | ClinVar dbSNP |
MT | m.9210A>T | CA414802437 | MT-CO3 | c.4A>T (p.Thr2Ser) | |
MT | m.9211C>A | CA414802438 | MT-CO3 | c.5C>A (p.Thr2Asn) | |
MT | m.9211C= | CA2499566187 | MT-CO3 | c.5C= (p.Thr2=) | |
MT | m.9211C>G | CA414802439 | MT-CO3 | c.5C>G (p.Thr2Ser) | |
MT | m.9211C>T | CA414802440 | MT-CO3 | c.5C>T (p.Thr2Ile) | ClinVar dbSNP |
MT | m.9212C>A | CA913181365 | MT-CO3 | c.6C>A (p.Thr2=) | |
MT | m.9212C= | CA2499566188 | MT-CO3 | c.6C= (p.Thr2=) | |
MT | m.9212C>G | CA913181364 | MT-CO3 | c.6C>G (p.Thr2=) | |
MT | m.9212C>T | CA337098274 | MT-CO3 | c.6C>T (p.Thr2=) | dbSNP |
MT | m.9213C>A | CA414802441 | MT-CO3 | c.7C>A (p.His3Asn) | |
MT | m.9213C= | CA2499566189 | MT-CO3 | c.7C= (p.His3=) | |
MT | m.9213C>G | CA414802442 | MT-CO3 | c.7C>G (p.His3Asp) | |
MT | m.9213C>T | CA414802443 | MT-CO3 | c.7C>T (p.His3Tyr) | dbSNP |
MT | m.9214A= | CA2499566190 | MT-CO3 | c.8A= (p.His3=) | |
MT | m.9214A>C | CA414802444 | MT-CO3 | c.8A>C (p.His3Pro) | |
MT | m.9214A>G | CA414802445 | MT-CO3 | c.8A>G (p.His3Arg) | ClinVar dbSNP COSMIC COSMIC |
MT | m.9214A>T | CA414802446 | MT-CO3 | c.8A>T (p.His3Leu) | |
MT | m.9215C>A | CA414802447 | MT-CO3 | c.9C>A (p.His3Gln) | |
MT | m.9215C= | CA2499566191 | MT-CO3 | c.9C= (p.His3=) | |
MT | m.9215C>G | CA414802448 | MT-CO3 | c.9C>G (p.His3Gln) | |
MT | m.9215C>T | CA913181368 | MT-CO3 | c.9C>T (p.His3=) | dbSNP |
MT | m.9216C>A | CA414802449 | MT-CO3 | c.10C>A (p.Gln4Lys) | |
MT | m.9216C= | CA2573321962 | MT-CO3 | c.10C= (p.Gln4=) | |
MT | m.9216C>G | CA414802450 | MT-CO3 | c.10C>G (p.Gln4Glu) | |
MT | m.9216C>T | CA414802451 | MT-CO3 | c.10C>T (p.Gln4Ter) | |
MT | m.9217A= | CA2499566192 | MT-CO3 | c.11A= (p.Gln4=) | |
MT | m.9217A>C | CA414802452 | MT-CO3 | c.11A>C (p.Gln4Pro) | |
MT | m.9217A>G | CA414802453 | MT-CO3 | c.11A>G (p.Gln4Arg) | ClinVar dbSNP |
MT | m.9217A>T | CA414802454 | MT-CO3 | c.11A>T (p.Gln4Leu) | |
MT | m.9218A= | CA2499566193 | MT-CO3 | c.12A= (p.Gln4=) | |
MT | m.9218A>C | CA414802455 | MT-CO3 | c.12A>C (p.Gln4His) | |
MT | m.9218A>G | CA337098276 | MT-CO3 | c.12A>G (p.Gln4=) | dbSNP |
MT | m.9218A>T | CA414802456 | MT-CO3 | c.12A>T (p.Gln4His) | |
MT | m.9219T>A | CA414802457 | MT-CO3 | c.13T>A (p.Ser5Thr) | |
MT | m.9219T>C | CA414802458 | MT-CO3 | c.13T>C (p.Ser5Pro) | dbSNP |
MT | m.9219T>G | CA414802459 | MT-CO3 | c.13T>G (p.Ser5Ala) | ClinVar dbSNP |
MT | m.9219T= | CA2499566194 | MT-CO3 | c.13T= (p.Ser5=) | |
MT | m.9220C>A | CA414802462 | MT-CO3 | c.14C>A (p.Ser5Ter) | |
MT | m.9220C= | CA2499566195 | MT-CO3 | c.14C= (p.Ser5=) | |
MT | m.9220C>G | CA414802460 | MT-CO3 | c.14C>G (p.Ser5Ter) | |
MT | m.9220C>T | CA414802461 | MT-CO3 | c.14C>T (p.Ser5Leu) | dbSNP |
MT | m.9221A= | CA2499566196 | MT-CO3 | c.15A= (p.Ser5=) | |
MT | m.9221A>C | CA913181372 | MT-CO3 | c.15A>C (p.Ser5=) | |
MT | m.9221A>G | CA337098278 | MT-CO3 | c.15A>G (p.Ser5=) | dbSNP |
MT | m.9221A>T | CA913181373 | MT-CO3 | c.15A>T (p.Ser5=) | |
MT | m.9222C>A | CA414802463 | MT-CO3 | c.16C>A (p.His6Asn) | |
MT | m.9222C= | CA2573321976 | MT-CO3 | c.16C= (p.His6=) | |
MT | m.9222C>G | CA414802464 | MT-CO3 | c.16C>G (p.His6Asp) | |
MT | m.9222C>T | CA414802465 | MT-CO3 | c.16C>T (p.His6Tyr) | |
MT | m.9223A= | CA2573321979 | MT-CO3 | c.17A= (p.His6=) | |
MT | m.9223A>C | CA414802466 | MT-CO3 | c.17A>C (p.His6Pro) | |
MT | m.9223A>G | CA414802467 | MT-CO3 | c.17A>G (p.His6Arg) | |
MT | m.9223A>T | CA414802468 | MT-CO3 | c.17A>T (p.His6Leu) | |
MT | m.9224T>A | CA414802469 | MT-CO3 | c.18T>A (p.His6Gln) | |
MT | m.9224T>C | CA913181375 | MT-CO3 | c.18T>C (p.His6=) | dbSNP |
MT | m.9224T>G | CA414802470 | MT-CO3 | c.18T>G (p.His6Gln) | |
MT | m.9224T= | CA2499566197 | MT-CO3 | c.18T= (p.His6=) | |
MT | m.9225G>A | CA414802471 | MT-CO3 | c.19G>A (p.Ala7Thr) | |
MT | m.9225G>C | CA414802472 | MT-CO3 | c.19G>C (p.Ala7Pro) | dbSNP |
MT | m.9225G= | CA2499566198 | MT-CO3 | c.19G= (p.Ala7=) | |
MT | m.9225G>T | CA414802473 | MT-CO3 | c.19G>T (p.Ala7Ser) | |
MT | m.9226C>A | CA414802476 | MT-CO3 | c.20C>A (p.Ala7Asp) | |
MT | m.9226C= | CA2573321987 | MT-CO3 | c.20C= (p.Ala7=) | |
MT | m.9226C>G | CA414802475 | MT-CO3 | c.20C>G (p.Ala7Gly) | |
MT | m.9226C>T | CA414802474 | MT-CO3 | c.20C>T (p.Ala7Val) | |
MT | m.9227C>A | CA913181385 | MT-CO3 | c.21C>A (p.Ala7=) | |
MT | m.9227C= | CA2573321996 | MT-CO3 | c.21C= (p.Ala7=) | |
MT | m.9227C>G | CA913181384 | MT-CO3 | c.21C>G (p.Ala7=) | |
MT | m.9227C>T | CA913181382 | MT-CO3 | c.21C>T (p.Ala7=) | |
MT | m.9228T>A | CA414802477 | MT-CO3 | c.22T>A (p.Tyr8Asn) | |
MT | m.9228T>C | CA414802478 | MT-CO3 | c.22T>C (p.Tyr8His) | |
MT | m.9228T>G | CA414802479 | MT-CO3 | c.22T>G (p.Tyr8Asp) | |
MT | m.9228T= | CA2573322000 | MT-CO3 | c.22T= (p.Tyr8=) | |
MT | m.9229A= | CA2573322008 | MT-CO3 | c.23A= (p.Tyr8=) | |
MT | m.9229A>C | CA414802480 | MT-CO3 | c.23A>C (p.Tyr8Ser) | |
MT | m.9229A>G | CA414802481 | MT-CO3 | c.23A>G (p.Tyr8Cys) | |
MT | m.9229A>T | CA414802482 | MT-CO3 | c.23A>T (p.Tyr8Phe) | |
MT | m.9230T>A | CA414802483 | MT-CO3 | c.24T>A (p.Tyr8Ter) | |
MT | m.9230T>C | CA337098281 | MT-CO3 | c.24T>C (p.Tyr8=) | dbSNP |
MT | m.9230T>G | CA414802484 | MT-CO3 | c.24T>G (p.Tyr8Ter) | |
MT | m.9230T= | CA2499566199 | MT-CO3 | c.24T= (p.Tyr8=) | |
MT | m.9231C>A | CA414802485 | MT-CO3 | c.25C>A (p.His9Asn) | |
MT | m.9231C= | CA2573322024 | MT-CO3 | c.25C= (p.His9=) | |
MT | m.9231C>G | CA414802486 | MT-CO3 | c.25C>G (p.His9Asp) | |
MT | m.9231C>T | CA414802487 | MT-CO3 | c.25C>T (p.His9Tyr) | |
MT | m.9232A= | CA2573322034 | MT-CO3 | c.26A= (p.His9=) | |
MT | m.9232A>C | CA414802490 | MT-CO3 | c.26A>C (p.His9Pro) | |
MT | m.9232A>G | CA414802488 | MT-CO3 | c.26A>G (p.His9Arg) | |
MT | m.9232A>T | CA414802489 | MT-CO3 | c.26A>T (p.His9Leu) | |
MT | m.9233T>A | CA414802491 | MT-CO3 | c.27T>A (p.His9Gln) | |
MT | m.9233T>C | CA913181390 | MT-CO3 | c.27T>C (p.His9=) | dbSNP |
MT | m.9233T>G | CA414802492 | MT-CO3 | c.27T>G (p.His9Gln) | |
MT | m.9233T= | CA2499566200 | MT-CO3 | c.27T= (p.His9=) | |
MT | m.9234A= | CA2499566201 | MT-CO3 | c.28A= (p.Ile10=) | |
MT | m.9234A>C | CA414802493 | MT-CO3 | c.28A>C (p.Ile10Leu) | |
MT | m.9234A>G | CA414802494 | MT-CO3 | c.28A>G (p.Ile10Val) | ClinVar dbSNP |
MT | m.9234A>T | CA414802495 | MT-CO3 | c.28A>T (p.Ile10Leu) | |
MT | m.9235T>A | CA414802496 | MT-CO3 | c.29T>A (p.Ile10Lys) | |
MT | m.9235T>C | CA414802497 | MT-CO3 | c.29T>C (p.Ile10Thr) | |
MT | m.9235T>G | CA414802498 | MT-CO3 | c.29T>G (p.Ile10Arg) | |
MT | m.9235T= | CA2573322053 | MT-CO3 | c.29T= (p.Ile10=) | |
MT | m.9236A= | CA2573322056 | MT-CO3 | c.30A= (p.Ile10=) | |
MT | m.9236A>C | CA913181392 | MT-CO3 | c.30A>C (p.Ile10=) | |
MT | m.9236A>G | CA414802499 | MT-CO3 | c.30A>G (p.Ile10Met) | |
MT | m.9236A>T | CA913181391 | MT-CO3 | c.30A>T (p.Ile10=) | |
MT | m.9237G>A | CA16040652 | MT-CO3 | c.31G>A (p.Val11Ile) | ClinVar dbSNP |
MT | m.9237G>C | CA414802500 | MT-CO3 | c.31G>C (p.Val11Leu) | |
MT | m.9237G= | CA2499566202 | MT-CO3 | c.31G= (p.Val11=) | |
MT | m.9237G>T | CA414802501 | MT-CO3 | c.31G>T (p.Val11Leu) | |
MT | m.9238T>A | CA414802504 | MT-CO3 | c.32T>A (p.Val11Glu) | |
MT | m.9238T>C | CA414802503 | MT-CO3 | c.32T>C (p.Val11Ala) | |
MT | m.9238T>G | CA414802502 | MT-CO3 | c.32T>G (p.Val11Gly) | |
MT | m.9238T= | CA2573322066 | MT-CO3 | c.32T= (p.Val11=) | |
MT | m.9239A= | CA2573322072 | MT-CO3 | c.33A= (p.Val11=) | |
MT | m.9239A>C | CA913181395 | MT-CO3 | c.33A>C (p.Val11=) | |
MT | m.9239A>G | CA913181398 | MT-CO3 | c.33A>G (p.Val11=) | |
MT | m.9239A>T | CA913181397 | MT-CO3 | c.33A>T (p.Val11=) | |
MT | m.9240A= | CA2573322078 | MT-CO3 | c.34A= (p.Lys12=) | |
MT | m.9240A>C | CA414802505 | MT-CO3 | c.34A>C (p.Lys12Gln) | |
MT | m.9240A>G | CA414802506 | MT-CO3 | c.34A>G (p.Lys12Glu) | |
MT | m.9240A>T | CA414802507 | MT-CO3 | c.34A>T (p.Lys12Ter) | |
MT | m.9241A= | CA2573322085 | MT-CO3 | c.35A= (p.Lys12=) | |
MT | m.9241A>C | CA414802508 | MT-CO3 | c.35A>C (p.Lys12Thr) | |
MT | m.9241A>G | CA414802509 | MT-CO3 | c.35A>G (p.Lys12Arg) | |
MT | m.9241A>T | CA414802510 | MT-CO3 | c.35A>T (p.Lys12Ile) | |
MT | m.9242A= | CA2499566203 | MT-CO3 | c.36A= (p.Lys12=) | |
MT | m.9242A>C | CA414802511 | MT-CO3 | c.36A>C (p.Lys12Asn) | |
MT | m.9242A>G | CA913181402 | MT-CO3 | c.36A>G (p.Lys12=) | dbSNP |
MT | m.9242A>T | CA414802512 | MT-CO3 | c.36A>T (p.Lys12Asn) | |
MT | m.9243C>A | CA414802513 | MT-CO3 | c.37C>A (p.Pro13Thr) | |
MT | m.9243C= | CA2573322096 | MT-CO3 | c.37C= (p.Pro13=) | |
MT | m.9243C>G | CA414802514 | MT-CO3 | c.37C>G (p.Pro13Ala) | |
MT | m.9243C>T | CA414802515 | MT-CO3 | c.37C>T (p.Pro13Ser) | |
MT | m.9244C>A | CA414802518 | MT-CO3 | c.38C>A (p.Pro13His) | |
MT | m.9244C= | CA2573322102 | MT-CO3 | c.38C= (p.Pro13=) | |
MT | m.9244C>G | CA414802517 | MT-CO3 | c.38C>G (p.Pro13Arg) | |
MT | m.9244C>T | CA414802516 | MT-CO3 | c.38C>T (p.Pro13Leu) |