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.6291_6361del | CA2573104835 | MT-CO1 | c.388_458del (p.Pro130ArgfsTer?) | |
MT | m.6324G>A | CA414783234 | MT-CO1 | c.421G>A (p.Ala141Thr) | ClinVar dbSNP |
MT | m.6324G>C | CA414783239 | MT-CO1 | c.421G>C (p.Ala141Pro) | |
MT | m.6324G= | CA2499564801 | MT-CO1 | c.421G= (p.Ala141=) | |
MT | m.6324G>T | CA414783236 | MT-CO1 | c.421G>T (p.Ala141Ser) | |
MT | m.6325C>A | CA414783243 | MT-CO1 | c.422C>A (p.Ala141Asp) | |
MT | m.6325C= | CA2573324448 | MT-CO1 | c.422C= (p.Ala141=) | |
MT | m.6325C>G | CA414783245 | MT-CO1 | c.422C>G (p.Ala141Gly) | |
MT | m.6325C>T | CA414783248 | MT-CO1 | c.422C>T (p.Ala141Val) | |
MT | m.6326C>A | CA913181285 | MT-CO1 | c.423C>A (p.Ala141=) | |
MT | m.6326C= | CA2573324452 | MT-CO1 | c.423C= (p.Ala141=) | |
MT | m.6326C>G | CA913181288 | MT-CO1 | c.423C>G (p.Ala141=) | |
MT | m.6326C>T | CA913181286 | MT-CO1 | c.423C>T (p.Ala141=) | |
MT | m.6327T>A | CA414783252 | MT-CO1 | c.424T>A (p.Ser142Thr) | |
MT | m.6327T>C | CA414783255 | MT-CO1 | c.424T>C (p.Ser142Pro) | |
MT | m.6327T>G | CA414783258 | MT-CO1 | c.424T>G (p.Ser142Ala) | |
MT | m.6327T= | CA2573324455 | MT-CO1 | c.424T= (p.Ser142=) | |
MT | m.6328C>A | CA414783260 | MT-CO1 | c.425C>A (p.Ser142Tyr) | |
MT | m.6328C= | CA2499564802 | MT-CO1 | c.425C= (p.Ser142=) | |
MT | m.6328C>G | CA414783264 | MT-CO1 | c.425C>G (p.Ser142Cys) | |
MT | m.6328C>T | CA120615 | MT-CO1 | c.425C>T (p.Ser142Phe) | ClinVar dbSNP |
MT | m.6329C>A | CA913181292 | MT-CO1 | c.426C>A (p.Ser142=) | |
MT | m.6329C= | CA2499564803 | MT-CO1 | c.426C= (p.Ser142=) | |
MT | m.6329C>G | CA913181293 | MT-CO1 | c.426C>G (p.Ser142=) | |
MT | m.6329C>T | CA337097382 | MT-CO1 | c.426C>T (p.Ser142=) | dbSNP |
MT | m.6330G>A | CA414783274 | MT-CO1 | c.427G>A (p.Val143Ile) | dbSNP COSMIC COSMIC |
MT | m.6330G>C | CA414783273 | MT-CO1 | c.427G>C (p.Val143Leu) | |
MT | m.6330G= | CA2573324467 | MT-CO1 | c.427G= (p.Val143=) | |
MT | m.6330G>T | CA414783271 | MT-CO1 | c.427G>T (p.Val143Leu) | |
MT | m.6331T>A | CA414783279 | MT-CO1 | c.428T>A (p.Val143Glu) | |
MT | m.6331T>C | CA414783281 | MT-CO1 | c.428T>C (p.Val143Ala) | |
MT | m.6331T>G | CA414783284 | MT-CO1 | c.428T>G (p.Val143Gly) | |
MT | m.6331T= | CA2573324470 | MT-CO1 | c.428T= (p.Val143=) | |
MT | m.6332A= | CA2499564804 | MT-CO1 | c.429A= (p.Val143=) | |
MT | m.6332A>C | CA913181296 | MT-CO1 | c.429A>C (p.Val143=) | |
MT | m.6332A>G | CA913181295 | MT-CO1 | c.429A>G (p.Val143=) | dbSNP |
MT | m.6332A>T | CA913181294 | MT-CO1 | c.429A>T (p.Val143=) | |
MT | m.6333G>A | CA414783288 | MT-CO1 | c.430G>A (p.Asp144Asn) | |
MT | m.6333G>C | CA414783290 | MT-CO1 | c.430G>C (p.Asp144His) | |
MT | m.6333G= | CA2573324477 | MT-CO1 | c.430G= (p.Asp144=) | |
MT | m.6333G>T | CA414783291 | MT-CO1 | c.430G>T (p.Asp144Tyr) | |
MT | m.6334A= | CA2573324483 | MT-CO1 | c.431A= (p.Asp144=) | |
MT | m.6334A>C | CA414783295 | MT-CO1 | c.431A>C (p.Asp144Ala) | |
MT | m.6334A>G | CA414783298 | MT-CO1 | c.431A>G (p.Asp144Gly) | |
MT | m.6334A>T | CA414783300 | MT-CO1 | c.431A>T (p.Asp144Val) | |
MT | m.6335C>A | CA414783304 | MT-CO1 | c.432C>A (p.Asp144Glu) | |
MT | m.6335C= | CA2499564805 | MT-CO1 | c.432C= (p.Asp144=) | |
MT | m.6335C>G | CA414783306 | MT-CO1 | c.432C>G (p.Asp144Glu) | |
MT | m.6335C>T | CA913181297 | MT-CO1 | c.432C>T (p.Asp144=) | dbSNP |
MT | m.6336C>A | CA414783311 | MT-CO1 | c.433C>A (p.Leu145Ile) | |
MT | m.6336C= | CA2573324489 | MT-CO1 | c.433C= (p.Leu145=) | |
MT | m.6336C>G | CA414783309 | MT-CO1 | c.433C>G (p.Leu145Val) | |
MT | m.6336C>T | CA913181298 | MT-CO1 | c.433C>T (p.Leu145=) | |
MT | m.6337T>A | CA414783315 | MT-CO1 | c.434T>A (p.Leu145Gln) | |
MT | m.6337T>C | CA414783321 | MT-CO1 | c.434T>C (p.Leu145Pro) | dbSNP |
MT | m.6337T>G | CA414783318 | MT-CO1 | c.434T>G (p.Leu145Arg) | |
MT | m.6337T= | CA2499564806 | MT-CO1 | c.434T= (p.Leu145=) | |
MT | m.6338A= | CA2499564807 | MT-CO1 | c.435A= (p.Leu145=) | |
MT | m.6338A>C | CA913181301 | MT-CO1 | c.435A>C (p.Leu145=) | |
MT | m.6338A>G | CA913181302 | MT-CO1 | c.435A>G (p.Leu145=) | dbSNP |
MT | m.6338A>T | CA913181300 | MT-CO1 | c.435A>T (p.Leu145=) | |
MT | m.6339A= | CA2499564808 | MT-CO1 | c.436A= (p.Thr146=) | |
MT | m.6339A>C | CA414783324 | MT-CO1 | c.436A>C (p.Thr146Pro) | |
MT | m.6339A>G | CA414783326 | MT-CO1 | c.436A>G (p.Thr146Ala) | ClinVar dbSNP |
MT | m.6339A>T | CA414783328 | MT-CO1 | c.436A>T (p.Thr146Ser) | |
MT | m.6340C>A | CA414783333 | MT-CO1 | c.437C>A (p.Thr146Asn) | |
MT | m.6340C= | CA2499564809 | MT-CO1 | c.437C= (p.Thr146=) | |
MT | m.6340C>G | CA414783334 | MT-CO1 | c.437C>G (p.Thr146Ser) | |
MT | m.6340C>T | CA414783336 | MT-CO1 | c.437C>T (p.Thr146Ile) | ClinVar dbSNP |
MT | m.6341C>A | CA913181303 | MT-CO1 | c.438C>A (p.Thr146=) | |
MT | m.6341C= | CA2499564810 | MT-CO1 | c.438C= (p.Thr146=) | |
MT | m.6341C>G | CA913181304 | MT-CO1 | c.438C>G (p.Thr146=) | |
MT | m.6341C>T | CA913181305 | MT-CO1 | c.438C>T (p.Thr146=) | dbSNP |
MT | m.6342A= | CA2573324506 | MT-CO1 | c.439A= (p.Ile147=) | |
MT | m.6342A>C | CA414783340 | MT-CO1 | c.439A>C (p.Ile147Leu) | |
MT | m.6342A>G | CA414783342 | MT-CO1 | c.439A>G (p.Ile147Val) | |
MT | m.6342A>T | CA414783345 | MT-CO1 | c.439A>T (p.Ile147Phe) | |
MT | m.6343T>A | CA414783348 | MT-CO1 | c.440T>A (p.Ile147Asn) | |
MT | m.6343T>C | CA414783350 | MT-CO1 | c.440T>C (p.Ile147Thr) | |
MT | m.6343T>G | CA414783352 | MT-CO1 | c.440T>G (p.Ile147Ser) | |
MT | m.6343T= | CA2573324510 | MT-CO1 | c.440T= (p.Ile147=) | |
MT | m.6344C>A | CA913181314 | MT-CO1 | c.441C>A (p.Ile147=) | |
MT | m.6344C= | CA2499564811 | MT-CO1 | c.441C= (p.Ile147=) | |
MT | m.6344C>G | CA414783355 | MT-CO1 | c.441C>G (p.Ile147Met) | |
MT | m.6344C>T | CA913181311 | MT-CO1 | c.441C>T (p.Ile147=) | dbSNP |
MT | m.6345T>A | CA414783359 | MT-CO1 | c.442T>A (p.Phe148Ile) | |
MT | m.6345T>C | CA414783362 | MT-CO1 | c.442T>C (p.Phe148Leu) | ClinVar dbSNP |
MT | m.6345T>G | CA414783364 | MT-CO1 | c.442T>G (p.Phe148Val) | |
MT | m.6345T= | CA2499564812 | MT-CO1 | c.442T= (p.Phe148=) | |
MT | m.6346T>A | CA414783367 | MT-CO1 | c.443T>A (p.Phe148Tyr) | |
MT | m.6346T>C | CA414783368 | MT-CO1 | c.443T>C (p.Phe148Ser) | |
MT | m.6346T>G | CA414783372 | MT-CO1 | c.443T>G (p.Phe148Cys) | |
MT | m.6346T= | CA2573324514 | MT-CO1 | c.443T= (p.Phe148=) | |
MT | m.6347C>A | CA414783375 | MT-CO1 | c.444C>A (p.Phe148Leu) | dbSNP |
MT | m.6347C= | CA2499564813 | MT-CO1 | c.444C= (p.Phe148=) | |
MT | m.6347C>G | CA414783378 | MT-CO1 | c.444C>G (p.Phe148Leu) | |
MT | m.6347C>T | CA913181318 | MT-CO1 | c.444C>T (p.Phe148=) | dbSNP |
MT | m.6348T>A | CA414783381 | MT-CO1 | c.445T>A (p.Ser149Thr) | |
MT | m.6348T>C | CA414783385 | MT-CO1 | c.445T>C (p.Ser149Pro) | |
MT | m.6348T>G | CA414783388 | MT-CO1 | c.445T>G (p.Ser149Ala) | |
MT | m.6348T= | CA2573324519 | MT-CO1 | c.445T= (p.Ser149=) | |
MT | m.6349C>A | CA414783398 | MT-CO1 | c.446C>A (p.Ser149Tyr) | |
MT | m.6349C= | CA2573324521 | MT-CO1 | c.446C= (p.Ser149=) | |
MT | m.6349C>G | CA414783395 | MT-CO1 | c.446C>G (p.Ser149Cys) | |
MT | m.6349C>T | CA414783393 | MT-CO1 | c.446C>T (p.Ser149Phe) | |
MT | m.6350C>A | CA913181319 | MT-CO1 | c.447C>A (p.Ser149=) | |
MT | m.6350C= | CA2513186101 | MT-CO1 | c.447C= (p.Ser149=) | |
MT | m.6350C>G | CA913181320 | MT-CO1 | c.447C>G (p.Ser149=) | |
MT | m.6350C>T | CA913181321 | MT-CO1 | c.447C>T (p.Ser149=) | |
MT | m.6351T>A | CA414783401 | MT-CO1 | c.448T>A (p.Leu150Ile) | |
MT | m.6351T>C | CA913181323 | MT-CO1 | c.448T>C (p.Leu150=) | dbSNP |
MT | m.6351T>G | CA414783404 | MT-CO1 | c.448T>G (p.Leu150Val) | |
MT | m.6351T= | CA2499564814 | MT-CO1 | c.448T= (p.Leu150=) | |
MT | m.6352T>A | CA414783407 | MT-CO1 | c.449T>A (p.Leu150Ter) | |
MT | m.6352T>C | CA414783410 | MT-CO1 | c.449T>C (p.Leu150Ser) | |
MT | m.6352T>G | CA414783412 | MT-CO1 | c.449T>G (p.Leu150Ter) | |
MT | m.6352T= | CA2573324527 | MT-CO1 | c.449T= (p.Leu150=) | |
MT | m.6353A= | CA2499564815 | MT-CO1 | c.450A= (p.Leu150=) | |
MT | m.6353A>C | CA414783416 | MT-CO1 | c.450A>C (p.Leu150Phe) | |
MT | m.6353A>G | CA913181325 | MT-CO1 | c.450A>G (p.Leu150=) | ClinVar dbSNP |
MT | m.6353A>T | CA414783419 | MT-CO1 | c.450A>T (p.Leu150Phe) | |
MT | m.6354C>A | CA414783422 | MT-CO1 | c.451C>A (p.His151Asn) | |
MT | m.6354C= | CA2573324538 | MT-CO1 | c.451C= (p.His151=) | |
MT | m.6354C>G | CA414783424 | MT-CO1 | c.451C>G (p.His151Asp) | |
MT | m.6354C>T | CA414783427 | MT-CO1 | c.451C>T (p.His151Tyr) | |
MT | m.6355A= | CA2573324540 | MT-CO1 | c.452A= (p.His151=) | |
MT | m.6355A>C | CA414783431 | MT-CO1 | c.452A>C (p.His151Pro) | |
MT | m.6355A>G | CA414783434 | MT-CO1 | c.452A>G (p.His151Arg) | |
MT | m.6355A>T | CA414783437 | MT-CO1 | c.452A>T (p.His151Leu) | |
MT | m.6356C>A | CA414783440 | MT-CO1 | c.453C>A (p.His151Gln) | |
MT | m.6356C= | CA2573324544 | MT-CO1 | c.453C= (p.His151=) | |
MT | m.6356C>G | CA414783443 | MT-CO1 | c.453C>G (p.His151Gln) | |
MT | m.6356C>T | CA913181327 | MT-CO1 | c.453C>T (p.His151=) | |
MT | m.6357C>A | CA414783445 | MT-CO1 | c.454C>A (p.Leu152Ile) | |
MT | m.6357C= | CA2499564816 | MT-CO1 | c.454C= (p.Leu152=) | |
MT | m.6357C>G | CA414783448 | MT-CO1 | c.454C>G (p.Leu152Val) | |
MT | m.6357C>T | CA913181328 | MT-CO1 | c.454C>T (p.Leu152=) | dbSNP |
MT | m.6358T>A | CA414783453 | MT-CO1 | c.455T>A (p.Leu152Gln) | |
MT | m.6358T>C | CA414783454 | MT-CO1 | c.455T>C (p.Leu152Pro) | ClinVar dbSNP |
MT | m.6358T>G | CA414783457 | MT-CO1 | c.455T>G (p.Leu152Arg) | |
MT | m.6358T= | CA2499564817 | MT-CO1 | c.455T= (p.Leu152=) | |
MT | m.6359A= | CA2499564818 | MT-CO1 | c.456A= (p.Leu152=) | |
MT | m.6359A>C | CA913181334 | MT-CO1 | c.456A>C (p.Leu152=) | |
MT | m.6359A>G | CA913181333 | MT-CO1 | c.456A>G (p.Leu152=) | dbSNP |
MT | m.6359A>T | CA913181332 | MT-CO1 | c.456A>T (p.Leu152=) | |
MT | m.6360G>A | CA414783462 | MT-CO1 | c.457G>A (p.Ala153Thr) | |
MT | m.6360G>C | CA414783464 | MT-CO1 | c.457G>C (p.Ala153Pro) | |
MT | m.6360G= | CA2573324556 | MT-CO1 | c.457G= (p.Ala153=) | |
MT | m.6360G>T | CA414783467 | MT-CO1 | c.457G>T (p.Ala153Ser) | |
MT | m.6361C>A | CA414783470 | MT-CO1 | c.458C>A (p.Ala153Glu) | |
MT | m.6361C= | CA2573324560 | MT-CO1 | c.458C= (p.Ala153=) | |
MT | m.6361C>G | CA414783474 | MT-CO1 | c.458C>G (p.Ala153Gly) | |
MT | m.6361C>T | CA414783477 | MT-CO1 | c.458C>T (p.Ala153Val) | |
MT | m.6362A= | CA2499564353 | MT-CO1 | c.459A= (p.Ala153=) | |
MT | m.6362A>C | CA913181336 | MT-CO1 | c.459A>C (p.Ala153=) | |
MT | m.6362A>G | CA913181338 | MT-CO1 | c.459A>G (p.Ala153=) | dbSNP |
MT | m.6362A>T | CA913181337 | MT-CO1 | c.459A>T (p.Ala153=) | |
MT | m.6363G>A | CA414783486 | MT-CO1 | c.460G>A (p.Gly154Ser) | dbSNP |
MT | m.6363G>C | CA414783484 | MT-CO1 | c.460G>C (p.Gly154Arg) | |
MT | m.6363G= | CA2499564355 | MT-CO1 | c.460G= (p.Gly154=) | |
MT | m.6363G>T | CA414783481 | MT-CO1 | c.460G>T (p.Gly154Cys) | |
MT | m.6364G>A | CA414783492 | MT-CO1 | c.461G>A (p.Gly154Asp) | |
MT | m.6364G>C | CA414783489 | MT-CO1 | c.461G>C (p.Gly154Ala) | |
MT | m.6364G= | CA2573324567 | MT-CO1 | c.461G= (p.Gly154=) | |
MT | m.6364G>T | CA414783495 | MT-CO1 | c.461G>T (p.Gly154Val) | |
MT | m.6365T>A | CA913181342 | MT-CO1 | c.462T>A (p.Gly154=) | |
MT | m.6365T>C | CA913181341 | MT-CO1 | c.462T>C (p.Gly154=) | dbSNP |
MT | m.6365T>G | CA913181340 | MT-CO1 | c.462T>G (p.Gly154=) | dbSNP |
MT | m.6365T= | CA2499564357 | MT-CO1 | c.462T= (p.Gly154=) | |
MT | m.6366G>A | CA337097384 | MT-CO1 | c.463G>A (p.Val155Ile) | ClinVar dbSNP |
MT | m.6366G>C | CA414783502 | MT-CO1 | c.463G>C (p.Val155Leu) | ClinVar dbSNP |
MT | m.6366G= | CA2499564359 | MT-CO1 | c.463G= (p.Val155=) | |
MT | m.6366G>T | CA414783499 | MT-CO1 | c.463G>T (p.Val155Phe) | |
MT | m.6367T>A | CA414783507 | MT-CO1 | c.464T>A (p.Val155Asp) | |
MT | m.6367T>C | CA414783512 | MT-CO1 | c.464T>C (p.Val155Ala) | ClinVar dbSNP |
MT | m.6367T>G | CA414783509 | MT-CO1 | c.464T>G (p.Val155Gly) | |
MT | m.6367T= | CA2499564363 | MT-CO1 | c.464T= (p.Val155=) | |
MT | m.6368C>A | CA913181344 | MT-CO1 | c.465C>A (p.Val155=) | |
MT | m.6368C= | CA2499564365 | MT-CO1 | c.465C= (p.Val155=) | |
MT | m.6368C>G | CA913181346 | MT-CO1 | c.465C>G (p.Val155=) | |
MT | m.6368C>T | CA913181345 | MT-CO1 | c.465C>T (p.Val155=) | dbSNP |
MT | m.6369T>A | CA414783516 | MT-CO1 | c.466T>A (p.Ser156Thr) | |
MT | m.6369T>C | CA414783518 | MT-CO1 | c.466T>C (p.Ser156Pro) | |
MT | m.6369T>G | CA414783522 | MT-CO1 | c.466T>G (p.Ser156Ala) | |
MT | m.6369T= | CA2573324587 | MT-CO1 | c.466T= (p.Ser156=) | |
MT | m.6370C>A | CA414783525 | MT-CO1 | c.467C>A (p.Ser156Tyr) | |
MT | m.6370C= | CA2573324596 | MT-CO1 | c.467C= (p.Ser156=) | |
MT | m.6370C>G | CA414783527 | MT-CO1 | c.467C>G (p.Ser156Cys) | |
MT | m.6370C>T | CA414783531 | MT-CO1 | c.467C>T (p.Ser156Phe) | |
MT | m.6371C>A | CA913181348 | MT-CO1 | c.468C>A (p.Ser156=) | |
MT | m.6371C= | CA2499564366 | MT-CO1 | c.468C= (p.Ser156=) | |
MT | m.6371C>G | CA913181349 | MT-CO1 | c.468C>G (p.Ser156=) | |
MT | m.6371C>T | CA337097386 | MT-CO1 | c.468C>T (p.Ser156=) | dbSNP |
MT | m.6372T>A | CA414783536 | MT-CO1 | c.469T>A (p.Ser157Thr) | |
MT | m.6372T>C | CA414783539 | MT-CO1 | c.469T>C (p.Ser157Pro) | |
MT | m.6372T>G | CA414783541 | MT-CO1 | c.469T>G (p.Ser157Ala) | |
MT | m.6372T= | CA2573324599 | MT-CO1 | c.469T= (p.Ser157=) | |
MT | m.6373C>A | CA414783549 | MT-CO1 | c.470C>A (p.Ser157Tyr) | |
MT | m.6373C= | CA2513135149 | MT-CO1 | c.470C= (p.Ser157=) | |
MT | m.6373C>G | CA414783544 | MT-CO1 | c.470C>G (p.Ser157Cys) | |
MT | m.6373C>T | CA414783547 | MT-CO1 | c.470C>T (p.Ser157Phe) | |
MT | m.6374T>A | CA913181351 | MT-CO1 | c.471T>A (p.Ser157=) | |
MT | m.6374T>C | CA913181352 | MT-CO1 | c.471T>C (p.Ser157=) | dbSNP |
MT | m.6374T>G | CA913181353 | MT-CO1 | c.471T>G (p.Ser157=) | |
MT | m.6374T= | CA2499564368 | MT-CO1 | c.471T= (p.Ser157=) | |
MT | m.6375A= | CA2499564370 | MT-CO1 | c.472A= (p.Ile158=) | |
MT | m.6375A>C | CA414783552 | MT-CO1 | c.472A>C (p.Ile158Leu) | |
MT | m.6375A>G | CA414783555 | MT-CO1 | c.472A>G (p.Ile158Val) | dbSNP |
MT | m.6375A>T | CA414783557 | MT-CO1 | c.472A>T (p.Ile158Phe) | |
MT | m.6376T>A | CA414783561 | MT-CO1 | c.473T>A (p.Ile158Asn) | |
MT | m.6376T>C | CA414783563 | MT-CO1 | c.473T>C (p.Ile158Thr) | |
MT | m.6376T>G | CA414783566 | MT-CO1 | c.473T>G (p.Ile158Ser) | |
MT | m.6376T= | CA2512993043 | MT-CO1 | c.473T= (p.Ile158=) | |
MT | m.6377C>A | CA913181358 | MT-CO1 | c.474C>A (p.Ile158=) | |
MT | m.6377C= | CA2499564371 | MT-CO1 | c.474C= (p.Ile158=) | |
MT | m.6377C>G | CA414783569 | MT-CO1 | c.474C>G (p.Ile158Met) | |
MT | m.6377C>T | CA913181359 | MT-CO1 | c.474C>T (p.Ile158=) | dbSNP |
MT | m.6378T>A | CA414783573 | MT-CO1 | c.475T>A (p.Leu159Ile) | |
MT | m.6378T>C | CA913181360 | MT-CO1 | c.475T>C (p.Leu159=) | dbSNP |
MT | m.6378T>G | CA414783575 | MT-CO1 | c.475T>G (p.Leu159Val) | |
MT | m.6378T= | CA2499564373 | MT-CO1 | c.475T= (p.Leu159=) | |
MT | m.6379T>A | CA414783580 | MT-CO1 | c.476T>A (p.Leu159Ter) | |
MT | m.6379T>C | CA414783583 | MT-CO1 | c.476T>C (p.Leu159Ser) | |
MT | m.6379T>G | CA414783578 | MT-CO1 | c.476T>G (p.Leu159Ter) | |
MT | m.6379T= | CA2573324613 | MT-CO1 | c.476T= (p.Leu159=) | |
MT | m.6380A= | CA2499564374 | MT-CO1 | c.477A= (p.Leu159=) | |
MT | m.6380A>C | CA414783587 | MT-CO1 | c.477A>C (p.Leu159Phe) | |
MT | m.6380A>G | CA913181361 | MT-CO1 | c.477A>G (p.Leu159=) | dbSNP |
MT | m.6380A>T | CA414783589 | MT-CO1 | c.477A>T (p.Leu159Phe) | |
MT | m.6381G>A | CA414783592 | MT-CO1 | c.478G>A (p.Gly160Arg) | |
MT | m.6381G>C | CA414783595 | MT-CO1 | c.478G>C (p.Gly160Arg) | |
MT | m.6381G= | CA2573324619 | MT-CO1 | c.478G= (p.Gly160=) | |
MT | m.6381G>T | CA414783598 | MT-CO1 | c.478G>T (p.Gly160Trp) | |
MT | m.6382G>A | CA414783600 | MT-CO1 | c.479G>A (p.Gly160Glu) | |
MT | m.6382G>C | CA414783603 | MT-CO1 | c.479G>C (p.Gly160Ala) | |
MT | m.6382G= | CA2573324621 | MT-CO1 | c.479G= (p.Gly160=) | |
MT | m.6382G>T | CA414783607 | MT-CO1 | c.479G>T (p.Gly160Val) | |
MT | m.6383G>A | CA337097388 | MT-CO1 | c.480G>A (p.Gly160=) | dbSNP |
MT | m.6383G>C | CA913181362 | MT-CO1 | c.480G>C (p.Gly160=) | |
MT | m.6383G= | CA2499564376 | MT-CO1 | c.480G= (p.Gly160=) | |
MT | m.6383G>T | CA913181363 | MT-CO1 | c.480G>T (p.Gly160=) | |
MT | m.6384G>A | CA414783613 | MT-CO1 | c.481G>A (p.Ala161Thr) | dbSNP |
MT | m.6384G>C | CA414783615 | MT-CO1 | c.481G>C (p.Ala161Pro) | |
MT | m.6384G= | CA2499564377 | MT-CO1 | c.481G= (p.Ala161=) | |
MT | m.6384G>T | CA414783617 | MT-CO1 | c.481G>T (p.Ala161Ser) | |
MT | m.6385C>A | CA414783620 | MT-CO1 | c.482C>A (p.Ala161Asp) | |
MT | m.6385C= | CA2573324627 | MT-CO1 | c.482C= (p.Ala161=) | |
MT | m.6385C>G | CA414783625 | MT-CO1 | c.482C>G (p.Ala161Gly) | |
MT | m.6385C>T | CA414783623 | MT-CO1 | c.482C>T (p.Ala161Val) | |
MT | m.6386C>A | CA913181366 | MT-CO1 | c.483C>A (p.Ala161=) | |
MT | m.6386C= | CA2499564379 | MT-CO1 | c.483C= (p.Ala161=) | |
MT | m.6386C>G | CA913181369 | MT-CO1 | c.483C>G (p.Ala161=) | |
MT | m.6386C>T | CA913181367 | MT-CO1 | c.483C>T (p.Ala161=) | dbSNP |
MT | m.6387A= | CA2573324631 | MT-CO1 | c.484A= (p.Ile162=) | |
MT | m.6387A>C | CA414783628 | MT-CO1 | c.484A>C (p.Ile162Leu) | |
MT | m.6387A>G | CA414783631 | MT-CO1 | c.484A>G (p.Ile162Val) | |
MT | m.6387A>T | CA414783634 | MT-CO1 | c.484A>T (p.Ile162Phe) | |
MT | m.6388T>A | CA414783638 | MT-CO1 | c.485T>A (p.Ile162Asn) | |
MT | m.6388T>C | CA414783641 | MT-CO1 | c.485T>C (p.Ile162Thr) | |
MT | m.6388T>G | CA414783642 | MT-CO1 | c.485T>G (p.Ile162Ser) | |
MT | m.6388T= | CA2573324636 | MT-CO1 | c.485T= (p.Ile162=) | |
MT | m.6389C>A | CA913181371 | MT-CO1 | c.486C>A (p.Ile162=) | |
MT | m.6389C= | CA2499564380 | MT-CO1 | c.486C= (p.Ile162=) | |
MT | m.6389C>G | CA414783645 | MT-CO1 | c.486C>G (p.Ile162Met) | |
MT | m.6389C>T | CA913181370 | MT-CO1 | c.486C>T (p.Ile162=) | dbSNP |
MT | m.6390A= | CA2573324644 | MT-CO1 | c.487A= (p.Asn163=) | |
MT | m.6390A>C | CA414783649 | MT-CO1 | c.487A>C (p.Asn163His) | |
MT | m.6390A>G | CA414783652 | MT-CO1 | c.487A>G (p.Asn163Asp) | |
MT | m.6390A>T | CA414783654 | MT-CO1 | c.487A>T (p.Asn163Tyr) | |
MT | m.6391A= | CA2573324646 | MT-CO1 | c.488A= (p.Asn163=) | |
MT | m.6391A>C | CA414783663 | MT-CO1 | c.488A>C (p.Asn163Thr) | |
MT | m.6391A>G | CA414783660 | MT-CO1 | c.488A>G (p.Asn163Ser) | |
MT | m.6391A>T | CA414783658 | MT-CO1 | c.488A>T (p.Asn163Ile) | |
MT | m.6392T>A | CA414783667 | MT-CO1 | c.489T>A (p.Asn163Lys) | |
MT | m.6392T>C | CA337097390 | MT-CO1 | c.489T>C (p.Asn163=) | dbSNP |
MT | m.6392T>G | CA414783669 | MT-CO1 | c.489T>G (p.Asn163Lys) | |
MT | m.6392T= | CA2499564381 | MT-CO1 | c.489T= (p.Asn163=) | |
MT | m.6393T>A | CA414783675 | MT-CO1 | c.490T>A (p.Phe164Ile) | |
MT | m.6393T>C | CA337097392 | MT-CO1 | c.490T>C (p.Phe164Leu) | ClinVar dbSNP |
MT | m.6393T>G | CA414783679 | MT-CO1 | c.490T>G (p.Phe164Val) | |
MT | m.6393T= | CA2499564383 | MT-CO1 | c.490T= (p.Phe164=) | |
MT | m.6394T>A | CA414783683 | MT-CO1 | c.491T>A (p.Phe164Tyr) | |
MT | m.6394T>C | CA414783686 | MT-CO1 | c.491T>C (p.Phe164Ser) | |
MT | m.6394T>G | CA414783688 | MT-CO1 | c.491T>G (p.Phe164Cys) | |
MT | m.6394T= | CA2573324659 | MT-CO1 | c.491T= (p.Phe164=) | |
MT | m.6395C>A | CA414783691 | MT-CO1 | c.492C>A (p.Phe164Leu) | |
MT | m.6395C= | CA2499564385 | MT-CO1 | c.492C= (p.Phe164=) | |
MT | m.6395C>G | CA414783694 | MT-CO1 | c.492C>G (p.Phe164Leu) | |
MT | m.6395C>T | CA913181374 | MT-CO1 | c.492C>T (p.Phe164=) | dbSNP |
MT | m.6396A= | CA2573324667 | MT-CO1 | c.493A= (p.Ile165=) | |
MT | m.6396A>C | CA414783697 | MT-CO1 | c.493A>C (p.Ile165Leu) | |
MT | m.6396A>G | CA414783700 | MT-CO1 | c.493A>G (p.Ile165Val) | |
MT | m.6396A>T | CA414783703 | MT-CO1 | c.493A>T (p.Ile165Phe) | |
MT | m.6397T>A | CA414783706 | MT-CO1 | c.494T>A (p.Ile165Asn) | |
MT | m.6397T>C | CA414783712 | MT-CO1 | c.494T>C (p.Ile165Thr) | |
MT | m.6397T>G | CA414783709 | MT-CO1 | c.494T>G (p.Ile165Ser) | |
MT | m.6397T= | CA2573324674 | MT-CO1 | c.494T= (p.Ile165=) | |
MT | m.6398C>A | CA913181376 | MT-CO1 | c.495C>A (p.Ile165=) | |
MT | m.6398C= | CA2499564386 | MT-CO1 | c.495C= (p.Ile165=) | |
MT | m.6398C>G | CA414783715 | MT-CO1 | c.495C>G (p.Ile165Met) | |
MT | m.6398C>T | CA913181377 | MT-CO1 | c.495C>T (p.Ile165=) | dbSNP |
MT | m.6399A= | CA2573324678 | MT-CO1 | c.496A= (p.Thr166=) | |
MT | m.6399A>C | CA414783718 | MT-CO1 | c.496A>C (p.Thr166Pro) | |
MT | m.6399A>G | CA414783720 | MT-CO1 | c.496A>G (p.Thr166Ala) | |
MT | m.6399A>T | CA414783721 | MT-CO1 | c.496A>T (p.Thr166Ser) | |
MT | m.6400C>A | CA414783727 | MT-CO1 | c.497C>A (p.Thr166Lys) | |
MT | m.6400C= | CA2573324682 | MT-CO1 | c.497C= (p.Thr166=) | |
MT | m.6400C>G | CA414783729 | MT-CO1 | c.497C>G (p.Thr166Arg) | |
MT | m.6400C>T | CA414783732 | MT-CO1 | c.497C>T (p.Thr166Ile) | |
MT | m.6401A= | CA2499564388 | MT-CO1 | c.498A= (p.Thr166=) | |
MT | m.6401A>C | CA913181378 | MT-CO1 | c.498A>C (p.Thr166=) | |
MT | m.6401A>G | CA337097394 | MT-CO1 | c.498A>G (p.Thr166=) | dbSNP |
MT | m.6401A>T | CA913181379 | MT-CO1 | c.498A>T (p.Thr166=) | |
MT | m.6402A= | CA2573324688 | MT-CO1 | c.499A= (p.Thr167=) | |
MT | m.6402A>C | CA414783742 | MT-CO1 | c.499A>C (p.Thr167Pro) | |
MT | m.6402A>G | CA414783745 | MT-CO1 | c.499A>G (p.Thr167Ala) | |
MT | m.6402A>T | CA414783739 | MT-CO1 | c.499A>T (p.Thr167Ser) | |
MT | m.6403C>A | CA414783749 | MT-CO1 | c.500C>A (p.Thr167Lys) | |
MT | m.6403C= | CA2573324694 | MT-CO1 | c.500C= (p.Thr167=) | |
MT | m.6403C>G | CA414783751 | MT-CO1 | c.500C>G (p.Thr167Arg) | |
MT | m.6403C>T | CA414783754 | MT-CO1 | c.500C>T (p.Thr167Ile) | |
MT | m.6404A= | CA2573324696 | MT-CO1 | c.501A= (p.Thr167=) | |
MT | m.6404A>C | CA913181383 | MT-CO1 | c.501A>C (p.Thr167=) | |
MT | m.6404A>G | CA913181381 | MT-CO1 | c.501A>G (p.Thr167=) | |
MT | m.6404A>T | CA913181380 | MT-CO1 | c.501A>T (p.Thr167=) | |
MT | m.6405A= | CA2573324697 | MT-CO1 | c.502A= (p.Ile168=) | |
MT | m.6405A>C | CA414783758 | MT-CO1 | c.502A>C (p.Ile168Leu) | |
MT | m.6405A>G | CA414783760 | MT-CO1 | c.502A>G (p.Ile168Val) | |
MT | m.6405A>T | CA414783763 | MT-CO1 | c.502A>T (p.Ile168Phe) | |
MT | m.6406T>A | CA414783765 | MT-CO1 | c.503T>A (p.Ile168Asn) | |
MT | m.6406T>C | CA414783771 | MT-CO1 | c.503T>C (p.Ile168Thr) | |
MT | m.6406T>G | CA414783768 | MT-CO1 | c.503T>G (p.Ile168Ser) | |
MT | m.6406T= | CA2573324701 | MT-CO1 | c.503T= (p.Ile168=) | |
MT | m.6407T>A | CA913181386 | MT-CO1 | c.504T>A (p.Ile168=) | |
MT | m.6407T>C | CA913181387 | MT-CO1 | c.504T>C (p.Ile168=) | dbSNP |
MT | m.6407T>G | CA414783774 | MT-CO1 | c.504T>G (p.Ile168Met) | |
MT | m.6407T= | CA2499564390 | MT-CO1 | c.504T= (p.Ile168=) | |
MT | m.6408A= | CA2499564391 | MT-CO1 | c.505A= (p.Ile169=) | |
MT | m.6408A>C | CA414783775 | MT-CO1 | c.505A>C (p.Ile169Leu) | |
MT | m.6408A>G | CA414783779 | MT-CO1 | c.505A>G (p.Ile169Val) | dbSNP |
MT | m.6408A>T | CA414783782 | MT-CO1 | c.505A>T (p.Ile169Phe) | |
MT | m.6409T>A | CA414783786 | MT-CO1 | c.506T>A (p.Ile169Asn) | |
MT | m.6409T>C | CA414783791 | MT-CO1 | c.506T>C (p.Ile169Thr) | |
MT | m.6409T>G | CA414783789 | MT-CO1 | c.506T>G (p.Ile169Ser) | |
MT | m.6409T= | CA2513210053 | MT-CO1 | c.506T= (p.Ile169=) | |
MT | m.6410C>A | CA913181389 | MT-CO1 | c.507C>A (p.Ile169=) | |
MT | m.6410C= | CA2499564393 | MT-CO1 | c.507C= (p.Ile169=) | |
MT | m.6410C>G | CA414783794 | MT-CO1 | c.507C>G (p.Ile169Met) | |
MT | m.6410C>T | CA913181388 | MT-CO1 | c.507C>T (p.Ile169=) | dbSNP |
MT | m.6411A= | CA2573324718 | MT-CO1 | c.508A= (p.Asn170=) | |
MT | m.6411A>C | CA414783797 | MT-CO1 | c.508A>C (p.Asn170His) | |
MT | m.6411A>G | CA414783800 | MT-CO1 | c.508A>G (p.Asn170Asp) | |
MT | m.6411A>T | CA414783802 | MT-CO1 | c.508A>T (p.Asn170Tyr) | |
MT | m.6412A= | CA2573324720 | MT-CO1 | c.509A= (p.Asn170=) | |
MT | m.6412A>C | CA414783806 | MT-CO1 | c.509A>C (p.Asn170Thr) | |
MT | m.6412A>G | CA414783809 | MT-CO1 | c.509A>G (p.Asn170Ser) | |
MT | m.6412A>T | CA414783811 | MT-CO1 | c.509A>T (p.Asn170Ile) | |
MT | m.6413T>A | CA414783815 | MT-CO1 | c.510T>A (p.Asn170Lys) | |
MT | m.6413T>C | CA337097396 | MT-CO1 | c.510T>C (p.Asn170=) | dbSNP |
MT | m.6413T>G | CA414783818 | MT-CO1 | c.510T>G (p.Asn170Lys) | |
MT | m.6413T= | CA2499564398 | MT-CO1 | c.510T= (p.Asn170=) | |
MT | m.6414A= | CA2573324724 | MT-CO1 | c.511A= (p.Ile171=) | |
MT | m.6414A>C | CA414783826 | MT-CO1 | c.511A>C (p.Ile171Leu) | |
MT | m.6414A>G | CA414783825 | MT-CO1 | c.511A>G (p.Ile171Val) | |
MT | m.6414A>T | CA414783822 | MT-CO1 | c.511A>T (p.Ile171Leu) | |
MT | m.6415T>A | CA414783830 | MT-CO1 | c.512T>A (p.Ile171Lys) | |
MT | m.6415T>C | CA414783835 | MT-CO1 | c.512T>C (p.Ile171Thr) | |
MT | m.6415T>G | CA414783833 | MT-CO1 | c.512T>G (p.Ile171Arg) | |
MT | m.6415T= | CA2573324728 | MT-CO1 | c.512T= (p.Ile171=) | |
MT | m.6416A= | CA2499564400 | MT-CO1 | c.513A= (p.Ile171=) | |
MT | m.6416A>C | CA913181394 | MT-CO1 | c.513A>C (p.Ile171=) | |
MT | m.6416A>G | CA414783838 | MT-CO1 | c.513A>G (p.Ile171Met) | dbSNP |
MT | m.6416A>T | CA913181393 | MT-CO1 | c.513A>T (p.Ile171=) | |
MT | m.6419del | CA2573104815 | MT-CO1 | c.516del (p.Lys172AsnfsTer5) | |
MT | m.6417A= | CA2573324731 | MT-CO1 | c.514A= (p.Lys172=) | |
MT | m.6417A>C | CA414783842 | MT-CO1 | c.514A>C (p.Lys172Gln) | |
MT | m.6417A>G | CA414783844 | MT-CO1 | c.514A>G (p.Lys172Glu) | |
MT | m.6417A>T | CA414783847 | MT-CO1 | c.514A>T (p.Lys172Ter) | |
MT | m.6418A= | CA2573324733 | MT-CO1 | c.515A= (p.Lys172=) | |
MT | m.6418A>C | CA414783851 | MT-CO1 | c.515A>C (p.Lys172Thr) | |
MT | m.6418A>G | CA414783854 | MT-CO1 | c.515A>G (p.Lys172Arg) | |
MT | m.6418A>T | CA414783856 | MT-CO1 | c.515A>T (p.Lys172Ile) | |
MT | m.6419A= | CA2499564401 | MT-CO1 | c.516A= (p.Lys172=) | |
MT | m.6419A>C | CA414783859 | MT-CO1 | c.516A>C (p.Lys172Asn) | dbSNP |
MT | m.6419A>G | CA913181396 | MT-CO1 | c.516A>G (p.Lys172=) | |
MT | m.6419A>T | CA414783861 | MT-CO1 | c.516A>T (p.Lys172Asn) | |
MT | m.6420C>A | CA414783866 | MT-CO1 | c.517C>A (p.Pro173Thr) | ClinVar dbSNP |
MT | m.6420C= | CA2499564402 | MT-CO1 | c.517C= (p.Pro173=) | |
MT | m.6420C>G | CA414783869 | MT-CO1 | c.517C>G (p.Pro173Ala) | |
MT | m.6420C>T | CA414783871 | MT-CO1 | c.517C>T (p.Pro173Ser) | |
MT | m.6424dup | CA2573104816 | MT-CO1 | c.521dup (p.Ala175CysfsTer?) | |
MT | m.6421C>A | CA414783879 | MT-CO1 | c.518C>A (p.Pro173His) | |
MT | m.6421C= | CA2573324743 | MT-CO1 | c.518C= (p.Pro173=) | |
MT | m.6421C>G | CA414783878 | MT-CO1 | c.518C>G (p.Pro173Arg) | |
MT | m.6421C>T | CA414783875 | MT-CO1 | c.518C>T (p.Pro173Leu) | |
MT | m.6422C>A | CA913181401 | MT-CO1 | c.519C>A (p.Pro173=) | |
MT | m.6422C= | CA2499564404 | MT-CO1 | c.519C= (p.Pro173=) | |
MT | m.6422C>G | CA913181400 | MT-CO1 | c.519C>G (p.Pro173=) | |
MT | m.6422C>T | CA913181399 | MT-CO1 | c.519C>T (p.Pro173=) | dbSNP |
MT | m.6423C>A | CA414783883 | MT-CO1 | c.520C>A (p.Pro174Thr) | |
MT | m.6423C= | CA2573324746 | MT-CO1 | c.520C= (p.Pro174=) | |
MT | m.6423C>G | CA414783885 | MT-CO1 | c.520C>G (p.Pro174Ala) | |
MT | m.6423C>T | CA414783888 | MT-CO1 | c.520C>T (p.Pro174Ser) | |
MT | m.6424C>A | CA414783889 | MT-CO1 | c.521C>A (p.Pro174His) | |
MT | m.6424C= | CA2573324749 | MT-CO1 | c.521C= (p.Pro174=) | |
MT | m.6424C>G | CA414783891 | MT-CO1 | c.521C>G (p.Pro174Arg) | |
MT | m.6424C>T | CA414783895 | MT-CO1 | c.521C>T (p.Pro174Leu) |