UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10676C>A | CA414806346 | MT-ND4L | c.207C>A (p.Cys69Ter) | |
| MT | m.10676C= | CA2499566887 | MT-ND4L | c.207C= (p.Cys69=) | |
| MT | m.10676C>G | CA414806348 | MT-ND4L | c.207C>G (p.Cys69Trp) | |
| MT | m.10676C>T | CA913164243 | MT-ND4L | c.207C>T (p.Cys69=) | dbSNP |
| MT | m.10677G>A | CA414806350 | MT-ND4L | c.208G>A (p.Glu70Lys) | ClinVar dbSNP |
| MT | m.10677G>C | CA414806352 | MT-ND4L | c.208G>C (p.Glu70Gln) | |
| MT | m.10677G= | CA2499566888 | MT-ND4L | c.208G= (p.Glu70=) | |
| MT | m.10677G>T | CA414806353 | MT-ND4L | c.208G>T (p.Glu70Ter) | |
| MT | m.10678A= | CA2573326559 | MT-ND4L | c.209A= (p.Glu70=) | |
| MT | m.10678A>C | CA414806356 | MT-ND4L | c.209A>C (p.Glu70Ala) | |
| MT | m.10678A>G | CA414806357 | MT-ND4L | c.209A>G (p.Glu70Gly) | |
| MT | m.10678A>T | CA414806358 | MT-ND4L | c.209A>T (p.Glu70Val) | |
| MT | m.10679A= | CA2499566890 | MT-ND4L | c.210A= (p.Glu70=) | |
| MT | m.10679A>C | CA414806362 | MT-ND4L | c.210A>C (p.Glu70Asp) | |
| MT | m.10679A>G | CA337098950 | MT-ND4L | c.210A>G (p.Glu70=) | dbSNP |
| MT | m.10679A>T | CA414806364 | MT-ND4L | c.210A>T (p.Glu70Asp) | |
| MT | m.10680G>A | CA414806371 | MT-ND4L | c.211G>A (p.Ala71Thr) | ClinVar dbSNP |
| MT | m.10680G>C | CA414806367 | MT-ND4L | c.211G>C (p.Ala71Pro) | |
| MT | m.10680G= | CA2499566891 | MT-ND4L | c.211G= (p.Ala71=) | |
| MT | m.10680G>T | CA414806369 | MT-ND4L | c.211G>T (p.Ala71Ser) | |
| MT | m.10681C>A | CA414806373 | MT-ND4L | c.212C>A (p.Ala71Glu) | |
| MT | m.10681C= | CA2573326566 | MT-ND4L | c.212C= (p.Ala71=) | |
| MT | m.10681C>G | CA414806375 | MT-ND4L | c.212C>G (p.Ala71Gly) | |
| MT | m.10681C>T | CA414806377 | MT-ND4L | c.212C>T (p.Ala71Val) | |
| MT | m.10682A= | CA2573326567 | MT-ND4L | c.213A= (p.Ala71=) | |
| MT | m.10682A>C | CA913164253 | MT-ND4L | c.213A>C (p.Ala71=) | |
| MT | m.10682A>G | CA913164254 | MT-ND4L | c.213A>G (p.Ala71=) | |
| MT | m.10682A>T | CA913164255 | MT-ND4L | c.213A>T (p.Ala71=) | |
| MT | m.10683G>A | CA414806380 | MT-ND4L | c.214G>A (p.Ala72Thr) | |
| MT | m.10683G>C | CA414806381 | MT-ND4L | c.214G>C (p.Ala72Pro) | |
| MT | m.10683G= | CA2573326569 | MT-ND4L | c.214G= (p.Ala72=) | |
| MT | m.10683G>T | CA414806383 | MT-ND4L | c.214G>T (p.Ala72Ser) | |
| MT | m.10684C>A | CA414806386 | MT-ND4L | c.215C>A (p.Ala72Glu) | |
| MT | m.10684C= | CA2573326571 | MT-ND4L | c.215C= (p.Ala72=) | |
| MT | m.10684C>G | CA414806388 | MT-ND4L | c.215C>G (p.Ala72Gly) | |
| MT | m.10684C>T | CA414806389 | MT-ND4L | c.215C>T (p.Ala72Val) | |
| MT | m.10685G>A | CA337098953 | MT-ND4L | c.216G>A (p.Ala72=) | dbSNP |
| MT | m.10685G>C | CA913164269 | MT-ND4L | c.216G>C (p.Ala72=) | |
| MT | m.10685G= | CA2499566893 | MT-ND4L | c.216G= (p.Ala72=) | |
| MT | m.10685G>T | CA913164268 | MT-ND4L | c.216G>T (p.Ala72=) | |
| MT | m.10686G>A | CA414806395 | MT-ND4L | c.217G>A (p.Val73Met) | ClinVar dbSNP COSMIC |
| MT | m.10686G>C | CA414806397 | MT-ND4L | c.217G>C (p.Val73Leu) | |
| MT | m.10686G= | CA2499566895 | MT-ND4L | c.217G= (p.Val73=) | |
| MT | m.10686G>T | CA414806393 | MT-ND4L | c.217G>T (p.Val73Leu) | |
| MT | m.10687T>A | CA414806401 | MT-ND4L | c.218T>A (p.Val73Glu) | |
| MT | m.10687T>C | CA414806400 | MT-ND4L | c.218T>C (p.Val73Ala) | |
| MT | m.10687T>G | CA414806403 | MT-ND4L | c.218T>G (p.Val73Gly) | |
| MT | m.10687T= | CA2573326575 | MT-ND4L | c.218T= (p.Val73=) | |
| MT | m.10688G>A | CA337098956 | MT-ND4L | c.219G>A (p.Val73=) | dbSNP |
| MT | m.10688G>C | CA913164281 | MT-ND4L | c.219G>C (p.Val73=) | dbSNP |
| MT | m.10688G= | CA2499566897 | MT-ND4L | c.219G= (p.Val73=) | |
| MT | m.10688G>T | CA913164280 | MT-ND4L | c.219G>T (p.Val73=) | |
| MT | m.10689G>A | CA337098959 | MT-ND4L | c.220G>A (p.Gly74Ser) | dbSNP |
| MT | m.10689G>C | CA414806407 | MT-ND4L | c.220G>C (p.Gly74Arg) | |
| MT | m.10689G= | CA2499566898 | MT-ND4L | c.220G= (p.Gly74=) | |
| MT | m.10689G>T | CA414806409 | MT-ND4L | c.220G>T (p.Gly74Cys) | |
| MT | m.10690G>A | CA414806412 | MT-ND4L | c.221G>A (p.Gly74Asp) | |
| MT | m.10690G>C | CA414806414 | MT-ND4L | c.221G>C (p.Gly74Ala) | |
| MT | m.10690G= | CA2573326580 | MT-ND4L | c.221G= (p.Gly74=) | |
| MT | m.10690G>T | CA414806416 | MT-ND4L | c.221G>T (p.Gly74Val) | |
| MT | m.10691C>A | CA913164295 | MT-ND4L | c.222C>A (p.Gly74=) | |
| MT | m.10691C= | CA2499566899 | MT-ND4L | c.222C= (p.Gly74=) | |
| MT | m.10691C>G | CA913164296 | MT-ND4L | c.222C>G (p.Gly74=) | |
| MT | m.10691C>T | CA913164298 | MT-ND4L | c.222C>T (p.Gly74=) | dbSNP |
| MT | m.10692C>A | CA414806418 | MT-ND4L | c.223C>A (p.Leu75Ile) | |
| MT | m.10692C= | CA2499566901 | MT-ND4L | c.223C= (p.Leu75=) | |
| MT | m.10692C>G | CA414806420 | MT-ND4L | c.223C>G (p.Leu75Val) | |
| MT | m.10692C>T | CA913164302 | MT-ND4L | c.223C>T (p.Leu75=) | dbSNP |
| MT | m.10693T>A | CA414806422 | MT-ND4L | c.224T>A (p.Leu75Gln) | |
| MT | m.10693T>C | CA414806424 | MT-ND4L | c.224T>C (p.Leu75Pro) | |
| MT | m.10693T>G | CA414806426 | MT-ND4L | c.224T>G (p.Leu75Arg) | |
| MT | m.10693T= | CA2573326585 | MT-ND4L | c.224T= (p.Leu75=) | |
| MT | m.10694A= | CA2499566902 | MT-ND4L | c.225A= (p.Leu75=) | |
| MT | m.10694A>C | CA913164311 | MT-ND4L | c.225A>C (p.Leu75=) | |
| MT | m.10694A>G | CA337098962 | MT-ND4L | c.225A>G (p.Leu75=) | dbSNP |
| MT | m.10694A>T | CA913164309 | MT-ND4L | c.225A>T (p.Leu75=) | |
| MT | m.10695G>A | CA414806431 | MT-ND4L | c.226G>A (p.Ala76Thr) | |
| MT | m.10695G>C | CA414806432 | MT-ND4L | c.226G>C (p.Ala76Pro) | |
| MT | m.10695G= | CA2573326591 | MT-ND4L | c.226G= (p.Ala76=) | |
| MT | m.10695G>T | CA414806434 | MT-ND4L | c.226G>T (p.Ala76Ser) | |
| MT | m.10696C>A | CA414806437 | MT-ND4L | c.227C>A (p.Ala76Asp) | |
| MT | m.10696C= | CA2573326594 | MT-ND4L | c.227C= (p.Ala76=) | |
| MT | m.10696C>G | CA414806438 | MT-ND4L | c.227C>G (p.Ala76Gly) | |
| MT | m.10696C>T | CA414806440 | MT-ND4L | c.227C>T (p.Ala76Val) | |
| MT | m.10697C>A | CA913164323 | MT-ND4L | c.228C>A (p.Ala76=) | |
| MT | m.10697C= | CA2499566904 | MT-ND4L | c.228C= (p.Ala76=) | |
| MT | m.10697C>G | CA913164321 | MT-ND4L | c.228C>G (p.Ala76=) | |
| MT | m.10697C>T | CA913164322 | MT-ND4L | c.228C>T (p.Ala76=) | dbSNP |
| MT | m.10698C>A | CA414806443 | MT-ND4L | c.229C>A (p.Leu77Ile) | |
| MT | m.10698C= | CA2499566905 | MT-ND4L | c.229C= (p.Leu77=) | |
| MT | m.10698C>G | CA414806444 | MT-ND4L | c.229C>G (p.Leu77Val) | |
| MT | m.10698C>T | CA913164324 | MT-ND4L | c.229C>T (p.Leu77=) | dbSNP |
| MT | m.10699T>A | CA414806447 | MT-ND4L | c.230T>A (p.Leu77Gln) | |
| MT | m.10699T>C | CA414806448 | MT-ND4L | c.230T>C (p.Leu77Pro) | |
| MT | m.10699T>G | CA414806450 | MT-ND4L | c.230T>G (p.Leu77Arg) | |
| MT | m.10699T= | CA2573326600 | MT-ND4L | c.230T= (p.Leu77=) | |
| MT | m.10700A= | CA2499566907 | MT-ND4L | c.231A= (p.Leu77=) | |
| MT | m.10700A>C | CA913164337 | MT-ND4L | c.231A>C (p.Leu77=) | |
| MT | m.10700A>G | CA337098966 | MT-ND4L | c.231A>G (p.Leu77=) | dbSNP |
| MT | m.10700A>T | CA913164328 | MT-ND4L | c.231A>T (p.Leu77=) | |
| MT | m.10701C>A | CA414806456 | MT-ND4L | c.232C>A (p.Leu78Ile) | |
| MT | m.10701C= | CA2573326601 | MT-ND4L | c.232C= (p.Leu78=) | |
| MT | m.10701C>G | CA414806453 | MT-ND4L | c.232C>G (p.Leu78Val) | |
| MT | m.10701C>T | CA913164340 | MT-ND4L | c.232C>T (p.Leu78=) | |
| MT | m.10702del | CA2573105067 | MT-ND4L | c.233del (p.Leu78GlnfsTer10) | |
| MT | m.10702T>A | CA414806458 | MT-ND4L | c.233T>A (p.Leu78Gln) | |
| MT | m.10702T>C | CA414806460 | MT-ND4L | c.233T>C (p.Leu78Pro) | |
| MT | m.10702T>G | CA414806461 | MT-ND4L | c.233T>G (p.Leu78Arg) | |
| MT | m.10702T= | CA2573326603 | MT-ND4L | c.233T= (p.Leu78=) | |
| MT | m.10703A= | CA2499566908 | MT-ND4L | c.234A= (p.Leu78=) | |
| MT | m.10703A>C | CA913164348 | MT-ND4L | c.234A>C (p.Leu78=) | |
| MT | m.10703A>G | CA913164352 | MT-ND4L | c.234A>G (p.Leu78=) | dbSNP |
| MT | m.10703A>T | CA913164353 | MT-ND4L | c.234A>T (p.Leu78=) | |
| MT | m.10704G>A | CA337098970 | MT-ND4L | c.235G>A (p.Val79Ile) | ClinVar dbSNP |
| MT | m.10704G>C | CA414806464 | MT-ND4L | c.235G>C (p.Val79Leu) | |
| MT | m.10704G= | CA2499566910 | MT-ND4L | c.235G= (p.Val79=) | |
| MT | m.10704G>T | CA414806466 | MT-ND4L | c.235G>T (p.Val79Phe) | |
| MT | m.10704_10707del | CA2573105068 | MT-ND4L | c.235_238del (p.Val79GlnfsTer8) | |
| MT | m.10705T>A | CA414806468 | MT-ND4L | c.236T>A (p.Val79Asp) | |
| MT | m.10705T>C | CA414806470 | MT-ND4L | c.236T>C (p.Val79Ala) | dbSNP |
| MT | m.10705T>G | CA414806472 | MT-ND4L | c.236T>G (p.Val79Gly) | |
| MT | m.10705T= | CA2499566912 | MT-ND4L | c.236T= (p.Val79=) | |
| MT | m.10706C>A | CA913164361 | MT-ND4L | c.237C>A (p.Val79=) | |
| MT | m.10706C= | CA2499566913 | MT-ND4L | c.237C= (p.Val79=) | |
| MT | m.10706C>G | CA913164360 | MT-ND4L | c.237C>G (p.Val79=) | |
| MT | m.10706C>T | CA337098976 | MT-ND4L | c.237C>T (p.Val79=) | dbSNP |
| MT | m.10707T>A | CA414806478 | MT-ND4L | c.238T>A (p.Ser80Thr) | |
| MT | m.10707T>C | CA414806475 | MT-ND4L | c.238T>C (p.Ser80Pro) | |
| MT | m.10707T>G | CA414806477 | MT-ND4L | c.238T>G (p.Ser80Ala) | |
| MT | m.10707T= | CA2573326612 | MT-ND4L | c.238T= (p.Ser80=) | |
| MT | m.10708C>A | CA414806481 | MT-ND4L | c.239C>A (p.Ser80Ter) | |
| MT | m.10708C= | CA2573326614 | MT-ND4L | c.239C= (p.Ser80=) | |
| MT | m.10708C>G | CA414806483 | MT-ND4L | c.239C>G (p.Ser80Ter) | |
| MT | m.10708C>T | CA414806484 | MT-ND4L | c.239C>T (p.Ser80Leu) | |
| MT | m.10709A= | CA2499566915 | MT-ND4L | c.240A= (p.Ser80=) | |
| MT | m.10709A>C | CA913164371 | MT-ND4L | c.240A>C (p.Ser80=) | dbSNP |
| MT | m.10709A>G | CA913164369 | MT-ND4L | c.240A>G (p.Ser80=) | dbSNP |
| MT | m.10709A>T | CA913164368 | MT-ND4L | c.240A>T (p.Ser80=) | |
| MT | m.10710A= | CA2573326616 | MT-ND4L | c.241A= (p.Ile81=) | |
| MT | m.10710A>C | CA414806487 | MT-ND4L | c.241A>C (p.Ile81Leu) | |
| MT | m.10710A>G | CA414806489 | MT-ND4L | c.241A>G (p.Ile81Val) | |
| MT | m.10710A>T | CA414806490 | MT-ND4L | c.241A>T (p.Ile81Phe) | |
| MT | m.10711T>A | CA414806493 | MT-ND4L | c.242T>A (p.Ile81Asn) | |
| MT | m.10711T>C | CA414806495 | MT-ND4L | c.242T>C (p.Ile81Thr) | |
| MT | m.10711T>G | CA414806496 | MT-ND4L | c.242T>G (p.Ile81Ser) | |
| MT | m.10711T= | CA2573326618 | MT-ND4L | c.242T= (p.Ile81=) | |
| MT | m.10712C>A | CA913164379 | MT-ND4L | c.243C>A (p.Ile81=) | |
| MT | m.10712C= | CA2499566917 | MT-ND4L | c.243C= (p.Ile81=) | |
| MT | m.10712C>G | CA414806499 | MT-ND4L | c.243C>G (p.Ile81Met) | |
| MT | m.10712C>T | CA337098978 | MT-ND4L | c.243C>T (p.Ile81=) | dbSNP |
| MT | m.10713T>A | CA414806504 | MT-ND4L | c.244T>A (p.Ser82Thr) | |
| MT | m.10713T>C | CA414806505 | MT-ND4L | c.244T>C (p.Ser82Pro) | |
| MT | m.10713T>G | CA414806502 | MT-ND4L | c.244T>G (p.Ser82Ala) | |
| MT | m.10713T= | CA2573326621 | MT-ND4L | c.244T= (p.Ser82=) | |
| MT | m.10714C>A | CA414806508 | MT-ND4L | c.245C>A (p.Ser82Tyr) | |
| MT | m.10714C= | CA2573326622 | MT-ND4L | c.245C= (p.Ser82=) | |
| MT | m.10714C>G | CA414806510 | MT-ND4L | c.245C>G (p.Ser82Cys) | |
| MT | m.10714C>T | CA414806512 | MT-ND4L | c.245C>T (p.Ser82Phe) | |
| MT | m.10715C>A | CA913164381 | MT-ND4L | c.246C>A (p.Ser82=) | |
| MT | m.10715C= | CA2499566919 | MT-ND4L | c.246C= (p.Ser82=) | |
| MT | m.10715C>G | CA913164385 | MT-ND4L | c.246C>G (p.Ser82=) | |
| MT | m.10715C>T | CA913164382 | MT-ND4L | c.246C>T (p.Ser82=) | dbSNP |
| MT | m.10716A= | CA2573326626 | MT-ND4L | c.247A= (p.Asn83=) | |
| MT | m.10716A>C | CA414806514 | MT-ND4L | c.247A>C (p.Asn83His) | |
| MT | m.10716A>G | CA414806516 | MT-ND4L | c.247A>G (p.Asn83Asp) | |
| MT | m.10716A>T | CA414806517 | MT-ND4L | c.247A>T (p.Asn83Tyr) | |
| MT | m.10717A= | CA2573326630 | MT-ND4L | c.248A= (p.Asn83=) | |
| MT | m.10717A>C | CA414806523 | MT-ND4L | c.248A>C (p.Asn83Thr) | |
| MT | m.10717A>G | CA414806519 | MT-ND4L | c.248A>G (p.Asn83Ser) | |
| MT | m.10717A>T | CA414806521 | MT-ND4L | c.248A>T (p.Asn83Ile) | |
| MT | m.10718C>A | CA414806526 | MT-ND4L | c.249C>A (p.Asn83Lys) | |
| MT | m.10718C= | CA2573326632 | MT-ND4L | c.249C= (p.Asn83=) | |
| MT | m.10718C>G | CA414806528 | MT-ND4L | c.249C>G (p.Asn83Lys) | |
| MT | m.10718C>T | CA913164394 | MT-ND4L | c.249C>T (p.Asn83=) | |
| MT | m.10719A= | CA2573326633 | MT-ND4L | c.250A= (p.Thr84=) | |
| MT | m.10719A>C | CA414806529 | MT-ND4L | c.250A>C (p.Thr84Pro) | |
| MT | m.10719A>G | CA414806531 | MT-ND4L | c.250A>G (p.Thr84Ala) | |
| MT | m.10719A>T | CA414806533 | MT-ND4L | c.250A>T (p.Thr84Ser) | |
| MT | m.10720C>A | CA414806535 | MT-ND4L | c.251C>A (p.Thr84Lys) | |
| MT | m.10720C= | CA2573326635 | MT-ND4L | c.251C= (p.Thr84=) | |
| MT | m.10720C>G | CA414806539 | MT-ND4L | c.251C>G (p.Thr84Arg) | |
| MT | m.10720C>T | CA414806537 | MT-ND4L | c.251C>T (p.Thr84Ile) | |
| MT | m.10721A= | CA2573326637 | MT-ND4L | c.252A= (p.Thr84=) | |
| MT | m.10721A>C | CA913164408 | MT-ND4L | c.252A>C (p.Thr84=) | |
| MT | m.10721A>G | CA913164404 | MT-ND4L | c.252A>G (p.Thr84=) | |
| MT | m.10721A>T | CA913164407 | MT-ND4L | c.252A>T (p.Thr84=) | |
| MT | m.10722T>A | CA414806541 | MT-ND4L | c.253T>A (p.Tyr85Asn) | |
| MT | m.10722T>C | CA414806543 | MT-ND4L | c.253T>C (p.Tyr85His) | |
| MT | m.10722T>G | CA414806545 | MT-ND4L | c.253T>G (p.Tyr85Asp) | |
| MT | m.10722T= | CA2573326640 | MT-ND4L | c.253T= (p.Tyr85=) | |
| MT | m.10723A= | CA2573326643 | MT-ND4L | c.254A= (p.Tyr85=) | |
| MT | m.10723A>C | CA414806547 | MT-ND4L | c.254A>C (p.Tyr85Ser) | |
| MT | m.10723A>G | CA414806549 | MT-ND4L | c.254A>G (p.Tyr85Cys) | |
| MT | m.10723A>T | CA414806551 | MT-ND4L | c.254A>T (p.Tyr85Phe) | |
| MT | m.10724T>A | CA414806553 | MT-ND4L | c.255T>A (p.Tyr85Ter) | |
| MT | m.10724T>C | CA913164413 | MT-ND4L | c.255T>C (p.Tyr85=) | dbSNP |
| MT | m.10724T>G | CA414806555 | MT-ND4L | c.255T>G (p.Tyr85Ter) | |
| MT | m.10724T= | CA2499566921 | MT-ND4L | c.255T= (p.Tyr85=) | |
| MT | m.10725G>A | CA414806557 | MT-ND4L | c.256G>A (p.Gly86Ser) | |
| MT | m.10725G>C | CA414806559 | MT-ND4L | c.256G>C (p.Gly86Arg) | |
| MT | m.10725G= | CA2573326645 | MT-ND4L | c.256G= (p.Gly86=) | |
| MT | m.10725G>T | CA414806561 | MT-ND4L | c.256G>T (p.Gly86Cys) | |
| MT | m.10726G>A | CA414806563 | MT-ND4L | c.257G>A (p.Gly86Asp) | |
| MT | m.10726G>C | CA414806567 | MT-ND4L | c.257G>C (p.Gly86Ala) | |
| MT | m.10726G= | CA2573326646 | MT-ND4L | c.257G= (p.Gly86=) | |
| MT | m.10726G>T | CA414806564 | MT-ND4L | c.257G>T (p.Gly86Val) | |
| MT | m.10727C>A | CA913164425 | MT-ND4L | c.258C>A (p.Gly86=) | dbSNP |
| MT | m.10727C= | CA2499566923 | MT-ND4L | c.258C= (p.Gly86=) | |
| MT | m.10727C>G | CA913164426 | MT-ND4L | c.258C>G (p.Gly86=) | |
| MT | m.10727C>T | CA337098981 | MT-ND4L | c.258C>T (p.Gly86=) | dbSNP |
| MT | m.10728C>A | CA414806571 | MT-ND4L | c.259C>A (p.Leu87Ile) | |
| MT | m.10728C= | CA2573326648 | MT-ND4L | c.259C= (p.Leu87=) | |
| MT | m.10728C>G | CA414806573 | MT-ND4L | c.259C>G (p.Leu87Val) | |
| MT | m.10728C>T | CA913164433 | MT-ND4L | c.259C>T (p.Leu87=) | |
| MT | m.10729T>A | CA414806575 | MT-ND4L | c.260T>A (p.Leu87Gln) | |
| MT | m.10729T>C | CA414806577 | MT-ND4L | c.260T>C (p.Leu87Pro) | dbSNP |
| MT | m.10729T>G | CA414806579 | MT-ND4L | c.260T>G (p.Leu87Arg) | |
| MT | m.10729T= | CA2499566924 | MT-ND4L | c.260T= (p.Leu87=) | |
| MT | m.10730A= | CA2499566926 | MT-ND4L | c.261A= (p.Leu87=) | |
| MT | m.10730A>C | CA913164441 | MT-ND4L | c.261A>C (p.Leu87=) | |
| MT | m.10730A>G | CA913164443 | MT-ND4L | c.261A>G (p.Leu87=) | dbSNP |
| MT | m.10730A>T | CA913164439 | MT-ND4L | c.261A>T (p.Leu87=) | |
| MT | m.10731G>A | CA414806582 | MT-ND4L | c.262G>A (p.Asp88Asn) | |
| MT | m.10731G>C | CA414806583 | MT-ND4L | c.262G>C (p.Asp88His) | |
| MT | m.10731G= | CA2573326651 | MT-ND4L | c.262G= (p.Asp88=) | |
| MT | m.10731G>T | CA414806585 | MT-ND4L | c.262G>T (p.Asp88Tyr) | |
| MT | m.10732A= | CA2573326654 | MT-ND4L | c.263A= (p.Asp88=) | |
| MT | m.10732A>C | CA414806588 | MT-ND4L | c.263A>C (p.Asp88Ala) | |
| MT | m.10732A>G | CA414806589 | MT-ND4L | c.263A>G (p.Asp88Gly) | |
| MT | m.10732A>T | CA414806591 | MT-ND4L | c.263A>T (p.Asp88Val) | |
| MT | m.10733C>A | CA337098984 | MT-ND4L | c.264C>A (p.Asp88Glu) | dbSNP |
| MT | m.10733C= | CA2499566928 | MT-ND4L | c.264C= (p.Asp88=) | |
| MT | m.10733C>G | CA414806594 | MT-ND4L | c.264C>G (p.Asp88Glu) | |
| MT | m.10733C>T | CA337098986 | MT-ND4L | c.264C>T (p.Asp88=) | dbSNP |
| MT | m.10734T>A | CA414806599 | MT-ND4L | c.265T>A (p.Tyr89Asn) | |
| MT | m.10734T>C | CA414806601 | MT-ND4L | c.265T>C (p.Tyr89His) | |
| MT | m.10734T>G | CA414806602 | MT-ND4L | c.265T>G (p.Tyr89Asp) | |
| MT | m.10734T= | CA2573326657 | MT-ND4L | c.265T= (p.Tyr89=) | |
| MT | m.10734_10735del | CA2573105069 | MT-ND4L | c.265_266del (p.Tyr89ArgfsTer3) | |
| MT | m.10735A= | CA2573326659 | MT-ND4L | c.266A= (p.Tyr89=) | |
| MT | m.10735A>C | CA414806605 | MT-ND4L | c.266A>C (p.Tyr89Ser) | |
| MT | m.10735A>G | CA414806606 | MT-ND4L | c.266A>G (p.Tyr89Cys) | |
| MT | m.10735A>T | CA414806608 | MT-ND4L | c.266A>T (p.Tyr89Phe) | |
| MT | m.10736C>A | CA414806610 | MT-ND4L | c.267C>A (p.Tyr89Ter) | |
| MT | m.10736C= | CA2499566930 | MT-ND4L | c.267C= (p.Tyr89=) | |
| MT | m.10736C>G | CA414806612 | MT-ND4L | c.267C>G (p.Tyr89Ter) | |
| MT | m.10736C>T | CA913164470 | MT-ND4L | c.267C>T (p.Tyr89=) | dbSNP |
| MT | m.10737G>A | CA414806614 | MT-ND4L | c.268G>A (p.Val90Ile) | |
| MT | m.10737G>C | CA414806616 | MT-ND4L | c.268G>C (p.Val90Leu) | |
| MT | m.10737G= | CA2573326660 | MT-ND4L | c.268G= (p.Val90=) | |
| MT | m.10737G>T | CA414806618 | MT-ND4L | c.268G>T (p.Val90Leu) | |
| MT | m.10738T>A | CA414806622 | MT-ND4L | c.269T>A (p.Val90Glu) | |
| MT | m.10738T>C | CA414806624 | MT-ND4L | c.269T>C (p.Val90Ala) | |
| MT | m.10738T>G | CA414806620 | MT-ND4L | c.269T>G (p.Val90Gly) | |
| MT | m.10738T= | CA2573326663 | MT-ND4L | c.269T= (p.Val90=) | |
| MT | m.10739A= | CA2499566931 | MT-ND4L | c.270A= (p.Val90=) | |
| MT | m.10739A>C | CA913164487 | MT-ND4L | c.270A>C (p.Val90=) | |
| MT | m.10739A>G | CA913164485 | MT-ND4L | c.270A>G (p.Val90=) | dbSNP |
| MT | m.10739A>T | CA913164489 | MT-ND4L | c.270A>T (p.Val90=) | |
| MT | m.10740C>A | CA414806628 | MT-ND4L | c.271C>A (p.His91Asn) | |
| MT | m.10740C= | CA2573326666 | MT-ND4L | c.271C= (p.His91=) | |
| MT | m.10740C>G | CA414806626 | MT-ND4L | c.271C>G (p.His91Asp) | |
| MT | m.10740C>T | CA414806630 | MT-ND4L | c.271C>T (p.His91Tyr) | |
| MT | m.10741A= | CA2573326668 | MT-ND4L | c.272A= (p.His91=) | |
| MT | m.10741A>C | CA414806633 | MT-ND4L | c.272A>C (p.His91Pro) | |
| MT | m.10741A>G | CA414806636 | MT-ND4L | c.272A>G (p.His91Arg) | |
| MT | m.10741A>T | CA414806634 | MT-ND4L | c.272A>T (p.His91Leu) | |
| MT | m.10742T>A | CA414806639 | MT-ND4L | c.273T>A (p.His91Gln) | |
| MT | m.10742T>C | CA913164494 | MT-ND4L | c.273T>C (p.His91=) | dbSNP |
| MT | m.10742T>G | CA414806640 | MT-ND4L | c.273T>G (p.His91Gln) | dbSNP |
| MT | m.10742T= | CA2499566932 | MT-ND4L | c.273T= (p.His91=) | |
| MT | m.10743A= | CA2573326671 | MT-ND4L | c.274A= (p.Asn92=) | |
| MT | m.10743A>C | CA414806643 | MT-ND4L | c.274A>C (p.Asn92His) | |
| MT | m.10743A>G | CA414806645 | MT-ND4L | c.274A>G (p.Asn92Asp) | |
| MT | m.10743A>T | CA414806646 | MT-ND4L | c.274A>T (p.Asn92Tyr) | |
| MT | m.10744A= | CA2573326672 | MT-ND4L | c.275A= (p.Asn92=) | |
| MT | m.10744A>C | CA414806649 | MT-ND4L | c.275A>C (p.Asn92Thr) | |
| MT | m.10744A>G | CA414806650 | MT-ND4L | c.275A>G (p.Asn92Ser) | |
| MT | m.10744A>T | CA414806652 | MT-ND4L | c.275A>T (p.Asn92Ile) | |
| MT | m.10745C>A | CA414806655 | MT-ND4L | c.276C>A (p.Asn92Lys) | |
| MT | m.10745C= | CA2499566934 | MT-ND4L | c.276C= (p.Asn92=) | |
| MT | m.10745C>G | CA414806656 | MT-ND4L | c.276C>G (p.Asn92Lys) | |
| MT | m.10745C>T | CA913164507 | MT-ND4L | c.276C>T (p.Asn92=) | dbSNP |
| MT | m.10746C>A | CA414806660 | MT-ND4L | c.277C>A (p.Leu93Ile) | |
| MT | m.10746C= | CA2573326675 | MT-ND4L | c.277C= (p.Leu93=) | |
| MT | m.10746C>G | CA414806659 | MT-ND4L | c.277C>G (p.Leu93Val) | |
| MT | m.10746C>T | CA913164509 | MT-ND4L | c.277C>T (p.Leu93=) | |
| MT | m.10747T>A | CA414806662 | MT-ND4L | c.278T>A (p.Leu93Gln) | |
| MT | m.10747T>C | CA414806664 | MT-ND4L | c.278T>C (p.Leu93Pro) | |
| MT | m.10747T>G | CA414806665 | MT-ND4L | c.278T>G (p.Leu93Arg) | |
| MT | m.10747T= | CA2573326679 | MT-ND4L | c.278T= (p.Leu93=) | |
| MT | m.10748A= | CA2573326680 | MT-ND4L | c.279A= (p.Leu93=) | |
| MT | m.10748A>C | CA913164529 | MT-ND4L | c.279A>C (p.Leu93=) | |
| MT | m.10748A>G | CA913164528 | MT-ND4L | c.279A>G (p.Leu93=) | |
| MT | m.10748A>T | CA913164526 | MT-ND4L | c.279A>T (p.Leu93=) | |
| MT | m.10749A= | CA2499566936 | MT-ND4L | c.280A= (p.Asn94=) | |
| MT | m.10749A>C | CA414806667 | MT-ND4L | c.280A>C (p.Asn94His) | |
| MT | m.10749A>G | CA414806669 | MT-ND4L | c.280A>G (p.Asn94Asp) | ClinVar dbSNP |
| MT | m.10749A>T | CA414806671 | MT-ND4L | c.280A>T (p.Asn94Tyr) | |
| MT | m.10750A= | CA2499566939 | MT-ND4L | c.281A= (p.Asn94=) | |
| MT | m.10750A>C | CA414806673 | MT-ND4L | c.281A>C (p.Asn94Thr) | |
| MT | m.10750A>G | CA337098990 | MT-ND4L | c.281A>G (p.Asn94Ser) | ClinVar dbSNP |
| MT | m.10750A>T | CA414806677 | MT-ND4L | c.281A>T (p.Asn94Ile) | |
| MT | m.10751C>A | CA414806680 | MT-ND4L | c.282C>A (p.Asn94Lys) | |
| MT | m.10751C= | CA2573326689 | MT-ND4L | c.282C= (p.Asn94=) | |
| MT | m.10751C>G | CA414806681 | MT-ND4L | c.282C>G (p.Asn94Lys) | |
| MT | m.10751C>T | CA913164534 | MT-ND4L | c.282C>T (p.Asn94=) | |
| MT | m.10752C>A | CA414806684 | MT-ND4L | c.283C>A (p.Leu95Ile) | |
| MT | m.10752C= | CA2499566941 | MT-ND4L | c.283C= (p.Leu95=) | |
| MT | m.10752C>G | CA414806686 | MT-ND4L | c.283C>G (p.Leu95Val) | |
| MT | m.10752C>T | CA913164538 | MT-ND4L | c.283C>T (p.Leu95=) | dbSNP |
| MT | m.10753T>A | CA414806688 | MT-ND4L | c.284T>A (p.Leu95Gln) | |
| MT | m.10753T>C | CA414806690 | MT-ND4L | c.284T>C (p.Leu95Pro) | dbSNP |
| MT | m.10753T>G | CA414806692 | MT-ND4L | c.284T>G (p.Leu95Arg) | |
| MT | m.10753T= | CA2573326693 | MT-ND4L | c.284T= (p.Leu95=) | |
| MT | m.10754A= | CA2499566943 | MT-ND4L | c.285A= (p.Leu95=) | |
| MT | m.10754A>C | CA337098993 | MT-ND4L | c.285A>C (p.Leu95=) | dbSNP |
| MT | m.10754A>G | CA337098997 | MT-ND4L | c.285A>G (p.Leu95=) | dbSNP |
| MT | m.10754A>T | CA337099000 | MT-ND4L | c.285A>T (p.Leu95=) | |
| MT | m.10755C>A | CA414806699 | MT-ND4L | c.286C>A (p.Leu96Ile) | |
| MT | m.10755C= | CA2573326696 | MT-ND4L | c.286C= (p.Leu96=) | |
| MT | m.10755C>G | CA414806706 | MT-ND4L | c.286C>G (p.Leu96Val) | |
| MT | m.10755C>T | CA414806708 | MT-ND4L | c.286C>T (p.Leu96Phe) | |
| MT | m.10756T>A | CA414806711 | MT-ND4L | c.287T>A (p.Leu96His) | |
| MT | m.10756T>C | CA414806712 | MT-ND4L | c.287T>C (p.Leu96Pro) | |
| MT | m.10756T>G | CA414806714 | MT-ND4L | c.287T>G (p.Leu96Arg) | |
| MT | m.10756T= | CA2573326698 | MT-ND4L | c.287T= (p.Leu96=) | |
| MT | m.10757C>A | CA913164574 | MT-ND4L | c.288C>A (p.Leu96=) | |
| MT | m.10757C= | CA2499566945 | MT-ND4L | c.288C= (p.Leu96=) | |
| MT | m.10757C>G | CA913164573 | MT-ND4L | c.288C>G (p.Leu96=) | dbSNP |
| MT | m.10757C>T | CA913164570 | MT-ND4L | c.288C>T (p.Leu96=) | dbSNP |
| MT | m.10758C>A | CA414806717 | MT-ND4L | c.289C>A (p.Gln97Lys) | |
| MT | m.10758C= | CA2573326701 | MT-ND4L | c.289C= (p.Gln97=) | |
| MT | m.10758C>G | CA414806720 | MT-ND4L | c.289C>G (p.Gln97Glu) | |
| MT | m.10758C>T | CA414806718 | MT-ND4L | c.289C>T (p.Gln97Ter) | |
| MT | m.10759A= | CA2573326703 | MT-ND4L | c.290A= (p.Gln97=) | |
| MT | m.10759A>C | CA414806721 | MT-ND4L | c.290A>C (p.Gln97Pro) | |
| MT | m.10759A>G | CA414806722 | MT-ND4L | c.290A>G (p.Gln97Arg) | |
| MT | m.10759A>T | CA414806723 | MT-ND4L | c.290A>T (p.Gln97Leu) | |
| MT | m.10760A= | CA2573326704 | MT-ND4,MT-ND4L | c.291A= (p.Gln97=) c.1A= (p.Met1=) | |
| MT | m.10760A>C | CA414806724 | MT-ND4,MT-ND4L | c.291A>C (p.Gln97His) c.1A>C (p.Met1Leu) | |
| MT | m.10760A>G | CA414806725 | MT-ND4,MT-ND4L | c.291A>G (p.Gln97=) c.1A>G (p.Met1Val) | |
| MT | m.10760A>T | CA414806726 | MT-ND4,MT-ND4L | c.291A>T (p.Gln97His) c.1A>T (p.Met1Leu) | |
| MT | m.10761T>A | CA414806727 | MT-ND4,MT-ND4L | c.292T>A (p.Cys98Ser) c.2T>A (p.Met1Lys) | |
| MT | m.10761T>C | CA414806728 | MT-ND4,MT-ND4L | c.292T>C (p.Cys98Arg) c.2T>C (p.Met1Thr) | |
| MT | m.10761T>G | CA414806730 | MT-ND4,MT-ND4L | c.292T>G (p.Cys98Gly) c.2T>G (p.Met1Arg) | |
| MT | m.10761T= | CA2573326705 | MT-ND4,MT-ND4L | c.292T= (p.Cys98=) c.2T= (p.Met1=) | |
| MT | m.10762G>A | CA414806734 | MT-ND4,MT-ND4L | c.293G>A (p.Cys98Tyr) c.3G>A (p.Met1Ile) | |
| MT | m.10762G>C | CA414806736 | MT-ND4,MT-ND4L | c.293G>C (p.Cys98Ser) c.3G>C (p.Met1Ile) | |
| MT | m.10762G= | CA2573326707 | MT-ND4,MT-ND4L | c.293G= (p.Cys98=) c.3G= (p.Met1=) | |
| MT | m.10762G>T | CA414806732 | MT-ND4,MT-ND4L | c.293G>T (p.Cys98Phe) c.3G>T (p.Met1Ile) | |
| MT | m.10763C>A | CA337099003 | MT-ND4,MT-ND4L | c.294C>A (p.Cys98Ter) c.4C>A (p.Leu2Ile) | dbSNP |
| MT | m.10763C= | CA2499566947 | MT-ND4,MT-ND4L | c.294C= (p.Cys98=) c.4C= (p.Leu2=) | |
| MT | m.10763C>G | CA337099006 | MT-ND4,MT-ND4L | c.294C>G (p.Cys98Trp) c.4C>G (p.Leu2Val) | |
| MT | m.10763C>T | CA913164587 | MT-ND4,MT-ND4L | c.294C>T (p.Cys98=) c.4C>T (p.Leu2=) | dbSNP |
| MT | m.10764T>A | CA414806742 | MT-ND4,MT-ND4L | c.295T>A (p.Ter99Lys) c.5T>A (p.Leu2Gln) | |
| MT | m.10764T>C | CA414806744 | MT-ND4,MT-ND4L | c.295T>C (p.Ter99Gln) c.5T>C (p.Leu2Pro) | |
| MT | m.10764T>G | CA414806746 | MT-ND4,MT-ND4L | c.295T>G (p.Ter99Glu) c.5T>G (p.Leu2Arg) | |
| MT | m.10764T= | CA2573326712 | MT-ND4,MT-ND4L | c.295T= (p.Ter99=) c.5T= (p.Leu2=) | |
| MT | m.10765A= | CA2573326714 | MT-ND4,MT-ND4L | c.296A= (p.Ter99=) c.6A= (p.Leu2=) | |
| MT | m.10765A>C | CA414806750 | MT-ND4,MT-ND4L | c.296A>C (p.Ter99Ser) c.6A>C (p.Leu2=) | |
| MT | m.10765A>G | CA913164590 | MT-ND4,MT-ND4L | c.296A>G (p.Ter99=) c.6A>G (p.Leu2=) | |
| MT | m.10765A>T | CA414806752 | MT-ND4,MT-ND4L | c.296A>T (p.Ter99Leu) c.6A>T (p.Leu2=) | |
| MT | m.10766A= | CA2573326715 | MT-ND4,MT-ND4L | c.297A= (p.Ter99=) c.7A= (p.Lys3=) | |
| MT | m.10766A>C | CA414806755 | MT-ND4,MT-ND4L | c.297A>C (p.Ter99Tyr) c.7A>C (p.Lys3Gln) | |
| MT | m.10766A>G | CA414806757 | MT-ND4,MT-ND4L | c.297A>G (p.Ter99=) c.7A>G (p.Lys3Glu) | |
| MT | m.10766A>T | CA414806759 | MT-ND4,MT-ND4L | c.297A>T (p.Ter99Tyr) c.7A>T (p.Lys3Ter) | |
| MT | m.10767A= | CA2573326718 | MT-ND4 | c.8A= (p.Lys3=) | |
| MT | m.10767A>C | CA414806764 | MT-ND4 | c.8A>C (p.Lys3Thr) | |
| MT | m.10767A>G | CA414806771 | MT-ND4 | c.8A>G (p.Lys3Arg) | |
| MT | m.10767A>T | CA414806772 | MT-ND4 | c.8A>T (p.Lys3Ile) | |
| MT | m.10768A= | CA2573326719 | MT-ND4 | c.9A= (p.Lys3=) | |
| MT | m.10768A>C | CA414806774 | MT-ND4 | c.9A>C (p.Lys3Asn) | |
| MT | m.10768A>G | CA913164602 | MT-ND4 | c.9A>G (p.Lys3=) | |
| MT | m.10768A>T | CA414806776 | MT-ND4 | c.9A>T (p.Lys3Asn) | |
| MT | m.10769C>A | CA414806778 | MT-ND4 | c.10C>A (p.Leu4Ile) | |
| MT | m.10769C= | CA2573326721 | MT-ND4 | c.10C= (p.Leu4=) | |
| MT | m.10769C>G | CA414806780 | MT-ND4 | c.10C>G (p.Leu4Val) | |
| MT | m.10769C>T | CA913164606 | MT-ND4 | c.10C>T (p.Leu4=) | dbSNP |
| MT | m.10770T>A | CA414806782 | MT-ND4 | c.11T>A (p.Leu4Gln) | |
| MT | m.10770T>C | CA414806784 | MT-ND4 | c.11T>C (p.Leu4Pro) | |
| MT | m.10770T>G | CA414806785 | MT-ND4 | c.11T>G (p.Leu4Arg) | |
| MT | m.10770T= | CA2573326724 | MT-ND4 | c.11T= (p.Leu4=) | |
| MT | m.10771A= | CA2499566949 | MT-ND4 | c.12A= (p.Leu4=) | |
| MT | m.10771A>C | CA913164614 | MT-ND4 | c.12A>C (p.Leu4=) | |
| MT | m.10771A>G | CA913164612 | MT-ND4 | c.12A>G (p.Leu4=) | dbSNP |
| MT | m.10771A>T | CA913164610 | MT-ND4 | c.12A>T (p.Leu4=) | |
| MT | m.10772A= | CA2573326727 | MT-ND4 | c.13A= (p.Ile5=) | |
| MT | m.10772A>C | CA414806788 | MT-ND4 | c.13A>C (p.Ile5Leu) | |
| MT | m.10772A>G | CA414806789 | MT-ND4 | c.13A>G (p.Ile5Val) | |
| MT | m.10772A>T | CA414806791 | MT-ND4 | c.13A>T (p.Ile5Phe) | |
| MT | m.10773T>A | CA414806793 | MT-ND4 | c.14T>A (p.Ile5Asn) | |
| MT | m.10773T>C | CA414806795 | MT-ND4 | c.14T>C (p.Ile5Thr) | |
| MT | m.10773T>G | CA414806797 | MT-ND4 | c.14T>G (p.Ile5Ser) | |
| MT | m.10773T= | CA2573326731 | MT-ND4 | c.14T= (p.Ile5=) | |
| MT | m.10774C>A | CA913164617 | MT-ND4 | c.15C>A (p.Ile5=) | |
| MT | m.10774C= | CA2573326741 | MT-ND4 | c.15C= (p.Ile5=) | |
| MT | m.10774C>G | CA414806798 | MT-ND4 | c.15C>G (p.Ile5Met) | |
| MT | m.10774C>T | CA913164618 | MT-ND4 | c.15C>T (p.Ile5=) | dbSNP |
| MT | m.10775G>A | CA337099012 | MT-ND4 | c.16G>A (p.Val6Ile) | ClinVar dbSNP |
| MT | m.10775G>C | CA414806805 | MT-ND4 | c.16G>C (p.Val6Leu) | |
| MT | m.10775G= | CA2499566951 | MT-ND4 | c.16G= (p.Val6=) | |
| MT | m.10775G>T | CA414806803 | MT-ND4 | c.16G>T (p.Val6Phe) | |
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10776T>A | CA414806807 | MT-ND4 | c.17T>A (p.Val6Asp) | |
| MT | m.10776T>C | CA414806809 | MT-ND4 | c.17T>C (p.Val6Ala) | ClinVar dbSNP |
| MT | m.10776T>G | CA414806811 | MT-ND4 | c.17T>G (p.Val6Gly) | |
| MT | m.10776T= | CA2499566954 | MT-ND4 | c.17T= (p.Val6=) |