| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.4166_4168del | CA2573104458 | MT-ND1 | c.860_862del (p.His287del) | |
| MT | m.4166A= | CA2573329364 | MT-ND1 | c.860A= (p.His287=) | |
| MT | m.4166A>C | CA414774327 | MT-ND1 | c.860A>C (p.His287Pro) | |
| MT | m.4166A>G | CA414774328 | MT-ND1 | c.860A>G (p.His287Arg) | |
| MT | m.4166A>T | CA414774329 | MT-ND1 | c.860A>T (p.His287Leu) | |
| MT | m.4167C>A | CA414774330 | MT-ND1 | c.861C>A (p.His287Gln) | |
| MT | m.4167C= | CA2499563764 | MT-ND1 | c.861C= (p.His287=) | |
| MT | m.4167C>G | CA414774331 | MT-ND1 | c.861C>G (p.His287Gln) | |
| MT | m.4167C>T | CA913177052 | MT-ND1 | c.861C>T (p.His287=) | ClinVar dbSNP |
| MT | m.4168C>A | CA414774332 | MT-ND1 | c.862C>A (p.Leu288Ile) | |
| MT | m.4168C= | CA2573329367 | MT-ND1 | c.862C= (p.Leu288=) | |
| MT | m.4168C>G | CA414774333 | MT-ND1 | c.862C>G (p.Leu288Val) | |
| MT | m.4168C>T | CA414774334 | MT-ND1 | c.862C>T (p.Leu288Phe) | |
| MT | m.4169T>A | CA414774335 | MT-ND1 | c.863T>A (p.Leu288His) | |
| MT | m.4169T>C | CA414774336 | MT-ND1 | c.863T>C (p.Leu288Pro) | |
| MT | m.4169T>G | CA414774337 | MT-ND1 | c.863T>G (p.Leu288Arg) | |
| MT | m.4169T= | CA2513112278 | MT-ND1 | c.863T= (p.Leu288=) | |
| MT | m.4170C>A | CA913177056 | MT-ND1 | c.864C>A (p.Leu288=) | |
| MT | m.4170C= | CA2499563765 | MT-ND1 | c.864C= (p.Leu288=) | |
| MT | m.4170C>G | CA913177058 | MT-ND1 | c.864C>G (p.Leu288=) | |
| MT | m.4170C>T | CA913177059 | MT-ND1 | c.864C>T (p.Leu288=) | dbSNP |
| MT | m.4171C>A | CA340948 | MT-ND1 | c.865C>A (p.Leu289Ile) | ClinVar dbSNP |
| MT | m.4171C= | CA2499563766 | MT-ND1 | c.865C= (p.Leu289=) | |
| MT | m.4171C>G | CA414774338 | MT-ND1 | c.865C>G (p.Leu289Val) | |
| MT | m.4171C>T | CA337096817 | MT-ND1 | c.865C>T (p.Leu289=) | dbSNP |
| MT | m.4172T>A | CA414774339 | MT-ND1 | c.866T>A (p.Leu289Gln) | ClinVar dbSNP |
| MT | m.4172T>C | CA414774341 | MT-ND1 | c.866T>C (p.Leu289Pro) | |
| MT | m.4172T>G | CA414774340 | MT-ND1 | c.866T>G (p.Leu289Arg) | |
| MT | m.4172T= | CA2499563767 | MT-ND1 | c.866T= (p.Leu289=) | |
| MT | m.4173A= | CA2573329379 | MT-ND1 | c.867A= (p.Leu289=) | |
| MT | m.4173A>C | CA913177075 | MT-ND1 | c.867A>C (p.Leu289=) | |
| MT | m.4173A>G | CA913177078 | MT-ND1 | c.867A>G (p.Leu289=) | |
| MT | m.4173A>T | CA913177081 | MT-ND1 | c.867A>T (p.Leu289=) | |
| MT | m.4174T>A | CA414774342 | MT-ND1 | c.868T>A (p.Ter290Arg) | |
| MT | m.4174T>C | CA414774343 | MT-ND1 | c.868T>C (p.Ter290Arg) | |
| MT | m.4174T>G | CA414774344 | MT-ND1 | c.868T>G (p.Ter290Gly) | |
| MT | m.4174T= | CA414774345 | MT-ND1 | c.868T= (p.Ter290=) | |
| MT | m.4175G>A | CA414774346 | MT-ND1 | c.869G>A (p.Ter290=) | |
| MT | m.4175G>C | CA414774347 | MT-ND1 | c.869G>C (p.Ter290Ser) | |
| MT | m.4175G= | CA414774348 | MT-ND1 | c.869G= (p.Ter290=) | |
| MT | m.4175G>T | CA414774349 | MT-ND1 | c.869G>T (p.Ter290Leu) | |
| MT | m.4175_4176delinsGA | CA2499563768 | MT-ND1 | c.869_870delinsGA (p.Ter290=) | |
| MT | m.4176A= | CA414774350 | MT-ND1 | c.870A= (p.Ter290=) | |
| MT | m.4176A>C | CA414774351 | MT-ND1 | c.870A>C (p.Ter290Cys) | |
| MT | m.4176A>G | CA414774352 | MT-ND1 | c.870A>G (p.Ter290Trp) | dbSNP |
| MT | m.4176A>T | CA414774353 | MT-ND1 | c.870A>T (p.Ter290Cys) | |
| MT | m.4181del | CA920599343 | MT-ND1 | c.875del (p.Asn292ThrfsTer7) | dbSNP |
| MT | m.4177A= | CA913177106 | MT-ND1 | c.871A= (p.Lys291=) | |
| MT | m.4177A>C | CA414774356 | MT-ND1 | c.871A>C (p.Lys291Gln) | |
| MT | m.4177A>G | CA414774355 | MT-ND1 | c.871A>G (p.Lys291Glu) | |
| MT | m.4177A>T | CA414774354 | MT-ND1 | c.871A>T (p.Lys291Ter) | |
| MT | m.4178A= | CA2573329385 | MT-ND1 | c.872A= (p.Lys291=) | |
| MT | m.4178A>C | CA414774357 | MT-ND1 | c.872A>C (p.Lys291Thr) | |
| MT | m.4178A>G | CA414774358 | MT-ND1 | c.872A>G (p.Lys291Arg) | |
| MT | m.4178A>T | CA414774359 | MT-ND1 | c.872A>T (p.Lys291Ile) | |
| MT | m.4179A= | CA2573329386 | MT-ND1 | c.873A= (p.Lys291=) | |
| MT | m.4179A>C | CA414774360 | MT-ND1 | c.873A>C (p.Lys291Asn) | |
| MT | m.4179A>G | CA913177114 | MT-ND1 | c.873A>G (p.Lys291=) | |
| MT | m.4179A>T | CA414774361 | MT-ND1 | c.873A>T (p.Lys291Asn) | |
| MT | m.4180A= | CA2499563769 | MT-ND1 | c.874A= (p.Asn292=) | |
| MT | m.4180A>C | CA414774362 | MT-ND1 | c.874A>C (p.Asn292His) | |
| MT | m.4180A>G | CA414774363 | MT-ND1 | c.874A>G (p.Asn292Asp) | ClinVar dbSNP |
| MT | m.4180A>T | CA414774364 | MT-ND1 | c.874A>T (p.Asn292Tyr) | |
| MT | m.4181A= | CA2573329392 | MT-ND1 | c.875A= (p.Asn292=) | |
| MT | m.4181A>C | CA414774365 | MT-ND1 | c.875A>C (p.Asn292Thr) | |
| MT | m.4181A>G | CA414774366 | MT-ND1 | c.875A>G (p.Asn292Ser) | |
| MT | m.4181A>T | CA414774367 | MT-ND1 | c.875A>T (p.Asn292Ile) | |
| MT | m.4182C>A | CA414774368 | MT-ND1 | c.876C>A (p.Asn292Lys) | |
| MT | m.4182C= | CA2499563770 | MT-ND1 | c.876C= (p.Asn292=) | |
| MT | m.4182C>G | CA414774369 | MT-ND1 | c.876C>G (p.Asn292Lys) | |
| MT | m.4182C>T | CA913177128 | MT-ND1 | c.876C>T (p.Asn292=) | dbSNP |
| MT | m.4183T>A | CA414774371 | MT-ND1 | c.877T>A (p.Phe293Ile) | |
| MT | m.4183T>C | CA414774372 | MT-ND1 | c.877T>C (p.Phe293Leu) | |
| MT | m.4183T>G | CA414774370 | MT-ND1 | c.877T>G (p.Phe293Val) | |
| MT | m.4183T= | CA2573329397 | MT-ND1 | c.877T= (p.Phe293=) | |
| MT | m.4184T>A | CA414774373 | MT-ND1 | c.878T>A (p.Phe293Tyr) | |
| MT | m.4184T>C | CA414774374 | MT-ND1 | c.878T>C (p.Phe293Ser) | |
| MT | m.4184T>G | CA414774375 | MT-ND1 | c.878T>G (p.Phe293Cys) | |
| MT | m.4184T= | CA2573329399 | MT-ND1 | c.878T= (p.Phe293=) | |
| MT | m.4185C>A | CA414774376 | MT-ND1 | c.879C>A (p.Phe293Leu) | |
| MT | m.4185C= | CA2573329401 | MT-ND1 | c.879C= (p.Phe293=) | |
| MT | m.4185C>G | CA414774377 | MT-ND1 | c.879C>G (p.Phe293Leu) | |
| MT | m.4185C>T | CA913177139 | MT-ND1 | c.879C>T (p.Phe293=) | dbSNP |
| MT | m.4186C>A | CA414774378 | MT-ND1 | c.880C>A (p.Leu294Ile) | |
| MT | m.4186C= | CA2499563771 | MT-ND1 | c.880C= (p.Leu294=) | |
| MT | m.4186C>G | CA414774379 | MT-ND1 | c.880C>G (p.Leu294Val) | |
| MT | m.4186C>T | CA913177142 | MT-ND1 | c.880C>T (p.Leu294=) | dbSNP |
| MT | m.4187T>A | CA414774380 | MT-ND1 | c.881T>A (p.Leu294Gln) | |
| MT | m.4187T>C | CA414774381 | MT-ND1 | c.881T>C (p.Leu294Pro) | dbSNP |
| MT | m.4187T>G | CA414774382 | MT-ND1 | c.881T>G (p.Leu294Arg) | |
| MT | m.4187T= | CA2499563772 | MT-ND1 | c.881T= (p.Leu294=) | |
| MT | m.4188A= | CA2499563773 | MT-ND1 | c.882A= (p.Leu294=) | |
| MT | m.4188A>C | CA913177166 | MT-ND1 | c.882A>C (p.Leu294=) | |
| MT | m.4188A>G | CA913177161 | MT-ND1 | c.882A>G (p.Leu294=) | dbSNP |
| MT | m.4188A>T | CA913177150 | MT-ND1 | c.882A>T (p.Leu294=) | dbSNP |
| MT | m.4189C>A | CA414774383 | MT-ND1 | c.883C>A (p.Pro295Thr) | |
| MT | m.4189C= | CA2573329405 | MT-ND1 | c.883C= (p.Pro295=) | |
| MT | m.4189C>G | CA414774384 | MT-ND1 | c.883C>G (p.Pro295Ala) | |
| MT | m.4189C>T | CA414774385 | MT-ND1 | c.883C>T (p.Pro295Ser) | |
| MT | m.4190C>A | CA414774386 | MT-ND1 | c.884C>A (p.Pro295Gln) | |
| MT | m.4190C= | CA2573329408 | MT-ND1 | c.884C= (p.Pro295=) | |
| MT | m.4190C>G | CA414774388 | MT-ND1 | c.884C>G (p.Pro295Arg) | |
| MT | m.4190C>T | CA414774387 | MT-ND1 | c.884C>T (p.Pro295Leu) | |
| MT | m.4191A= | CA2573329409 | MT-ND1 | c.885A= (p.Pro295=) | |
| MT | m.4191A>C | CA913177184 | MT-ND1 | c.885A>C (p.Pro295=) | |
| MT | m.4191A>G | CA913177187 | MT-ND1 | c.885A>G (p.Pro295=) | dbSNP |
| MT | m.4191A>T | CA913177188 | MT-ND1 | c.885A>T (p.Pro295=) | |
| MT | m.4192C>A | CA414774389 | MT-ND1 | c.886C>A (p.Leu296Ile) | |
| MT | m.4192C= | CA2573329410 | MT-ND1 | c.886C= (p.Leu296=) | |
| MT | m.4192C>G | CA414774390 | MT-ND1 | c.886C>G (p.Leu296Val) | |
| MT | m.4192C>T | CA414774391 | MT-ND1 | c.886C>T (p.Leu296Phe) | |
| MT | m.4193T>A | CA414774392 | MT-ND1 | c.887T>A (p.Leu296His) | |
| MT | m.4193T>C | CA414774393 | MT-ND1 | c.887T>C (p.Leu296Pro) | ClinVar dbSNP |
| MT | m.4193T>G | CA414774394 | MT-ND1 | c.887T>G (p.Leu296Arg) | |
| MT | m.4193T= | CA2499563774 | MT-ND1 | c.887T= (p.Leu296=) | |
| MT | m.4194C>A | CA913177201 | MT-ND1 | c.888C>A (p.Leu296=) | |
| MT | m.4194C= | CA2499563775 | MT-ND1 | c.888C= (p.Leu296=) | |
| MT | m.4194C>G | CA913177204 | MT-ND1 | c.888C>G (p.Leu296=) | |
| MT | m.4194C>T | CA913177205 | MT-ND1 | c.888C>T (p.Leu296=) | dbSNP |
| MT | m.4195A= | CA2573329414 | MT-ND1 | c.889A= (p.Thr297=) | |
| MT | m.4195A>C | CA414774395 | MT-ND1 | c.889A>C (p.Thr297Pro) | |
| MT | m.4195A>G | CA414774396 | MT-ND1 | c.889A>G (p.Thr297Ala) | |
| MT | m.4195A>T | CA414774397 | MT-ND1 | c.889A>T (p.Thr297Ser) | |
| MT | m.4196C>A | CA414774398 | MT-ND1 | c.890C>A (p.Thr297Asn) | |
| MT | m.4196C= | CA2573329418 | MT-ND1 | c.890C= (p.Thr297=) | |
| MT | m.4196C>G | CA414774400 | MT-ND1 | c.890C>G (p.Thr297Ser) | |
| MT | m.4196C>T | CA414774399 | MT-ND1 | c.890C>T (p.Thr297Ile) | |
| MT | m.4197C>A | CA913177218 | MT-ND1 | c.891C>A (p.Thr297=) | |
| MT | m.4197C= | CA2499563776 | MT-ND1 | c.891C= (p.Thr297=) | |
| MT | m.4197C>G | CA913177219 | MT-ND1 | c.891C>G (p.Thr297=) | |
| MT | m.4197C>T | CA913177220 | MT-ND1 | c.891C>T (p.Thr297=) | dbSNP |
| MT | m.4198C>A | CA414774401 | MT-ND1 | c.892C>A (p.Leu298Ile) | |
| MT | m.4198C= | CA2499563777 | MT-ND1 | c.892C= (p.Leu298=) | |
| MT | m.4198C>G | CA414774402 | MT-ND1 | c.892C>G (p.Leu298Val) | |
| MT | m.4198C>T | CA337096819 | MT-ND1 | c.892C>T (p.Leu298=) | dbSNP |
| MT | m.4199T>A | CA414774403 | MT-ND1 | c.893T>A (p.Leu298Gln) | |
| MT | m.4199T>C | CA414774404 | MT-ND1 | c.893T>C (p.Leu298Pro) | |
| MT | m.4199T>G | CA414774405 | MT-ND1 | c.893T>G (p.Leu298Arg) | |
| MT | m.4199T= | CA2513226723 | MT-ND1 | c.893T= (p.Leu298=) | |
| MT | m.4200A= | CA2499563778 | MT-ND1 | c.894A= (p.Leu298=) | |
| MT | m.4200A>C | CA913177232 | MT-ND1 | c.894A>C (p.Leu298=) | |
| MT | m.4200A>G | CA913177233 | MT-ND1 | c.894A>G (p.Leu298=) | dbSNP |
| MT | m.4200A>T | CA913177235 | MT-ND1 | c.894A>T (p.Leu298=) | dbSNP |
| MT | m.4201G>A | CA414774406 | MT-ND1 | c.895G>A (p.Ala299Thr) | |
| MT | m.4201G>C | CA414774407 | MT-ND1 | c.895G>C (p.Ala299Pro) | |
| MT | m.4201G= | CA2573329422 | MT-ND1 | c.895G= (p.Ala299=) | |
| MT | m.4201G>T | CA414774408 | MT-ND1 | c.895G>T (p.Ala299Ser) | |
| MT | m.4202C>A | CA414774409 | MT-ND1 | c.896C>A (p.Ala299Glu) | |
| MT | m.4202C= | CA2573329424 | MT-ND1 | c.896C= (p.Ala299=) | |
| MT | m.4202C>G | CA414774410 | MT-ND1 | c.896C>G (p.Ala299Gly) | |
| MT | m.4202C>T | CA414774411 | MT-ND1 | c.896C>T (p.Ala299Val) | |
| MT | m.4203A= | CA2499563779 | MT-ND1 | c.897A= (p.Ala299=) | |
| MT | m.4203A>C | CA913177255 | MT-ND1 | c.897A>C (p.Ala299=) | dbSNP |
| MT | m.4203A>G | CA913177252 | MT-ND1 | c.897A>G (p.Ala299=) | dbSNP |
| MT | m.4203A>T | CA913177250 | MT-ND1 | c.897A>T (p.Ala299=) | |
| MT | m.4204T>A | CA414774412 | MT-ND1 | c.898T>A (p.Leu300Ile) | |
| MT | m.4204T>C | CA913177257 | MT-ND1 | c.898T>C (p.Leu300=) | dbSNP |
| MT | m.4204T>G | CA414774413 | MT-ND1 | c.898T>G (p.Leu300Val) | |
| MT | m.4204T= | CA2499563780 | MT-ND1 | c.898T= (p.Leu300=) | |
| MT | m.4205T>A | CA414774414 | MT-ND1 | c.899T>A (p.Leu300Ter) | |
| MT | m.4205T>C | CA414774416 | MT-ND1 | c.899T>C (p.Leu300Ser) | ClinVar dbSNP |
| MT | m.4205T>G | CA414774415 | MT-ND1 | c.899T>G (p.Leu300Ter) | |
| MT | m.4205T= | CA2499563781 | MT-ND1 | c.899T= (p.Leu300=) | |
| MT | m.4206A= | CA2573329430 | MT-ND1 | c.900A= (p.Leu300=) | |
| MT | m.4206A>C | CA414774417 | MT-ND1 | c.900A>C (p.Leu300Phe) | |
| MT | m.4206A>G | CA913177262 | MT-ND1 | c.900A>G (p.Leu300=) | |
| MT | m.4206A>T | CA414774418 | MT-ND1 | c.900A>T (p.Leu300Phe) | |
| MT | m.4207C>A | CA414774419 | MT-ND1 | c.901C>A (p.Leu301Ile) | |
| MT | m.4207C= | CA2573329431 | MT-ND1 | c.901C= (p.Leu301=) | |
| MT | m.4207C>G | CA414774420 | MT-ND1 | c.901C>G (p.Leu301Val) | |
| MT | m.4207C>T | CA414774421 | MT-ND1 | c.901C>T (p.Leu301Phe) | |
| MT | m.4208T>A | CA414774422 | MT-ND1 | c.902T>A (p.Leu301His) | |
| MT | m.4208T>C | CA414774423 | MT-ND1 | c.902T>C (p.Leu301Pro) | |
| MT | m.4208T>G | CA414774424 | MT-ND1 | c.902T>G (p.Leu301Arg) | |
| MT | m.4208T= | CA2573329434 | MT-ND1 | c.902T= (p.Leu301=) | |
| MT | m.4209T>A | CA913177268 | MT-ND1 | c.903T>A (p.Leu301=) | |
| MT | m.4209T>C | CA913177266 | MT-ND1 | c.903T>C (p.Leu301=) | dbSNP |
| MT | m.4209T>G | CA913177265 | MT-ND1 | c.903T>G (p.Leu301=) | |
| MT | m.4209T= | CA2499563782 | MT-ND1 | c.903T= (p.Leu301=) | |
| MT | m.4210A= | CA2573329437 | MT-ND1 | c.904A= (p.Ile302=) | |
| MT | m.4210A>C | CA414774426 | MT-ND1 | c.904A>C (p.Ile302Leu) | |
| MT | m.4210A>G | CA414774427 | MT-ND1 | c.904A>G (p.Ile302Val) | |
| MT | m.4210A>T | CA414774425 | MT-ND1 | c.904A>T (p.Ile302Leu) | |
| MT | m.4211T>A | CA414774428 | MT-ND1 | c.905T>A (p.Ile302Lys) | |
| MT | m.4211T>C | CA414774429 | MT-ND1 | c.905T>C (p.Ile302Thr) | ClinVar dbSNP |
| MT | m.4211T>G | CA414774430 | MT-ND1 | c.905T>G (p.Ile302Arg) | |
| MT | m.4211T= | CA2499563783 | MT-ND1 | c.905T= (p.Ile302=) | |
| MT | m.4212A= | CA2573329439 | MT-ND1 | c.906A= (p.Ile302=) | |
| MT | m.4212A>C | CA913177273 | MT-ND1 | c.906A>C (p.Ile302=) | |
| MT | m.4212A>G | CA414774431 | MT-ND1 | c.906A>G (p.Ile302Met) | |
| MT | m.4212A>T | CA913177275 | MT-ND1 | c.906A>T (p.Ile302=) | |
| MT | m.4213T>A | CA414774432 | MT-ND1 | c.907T>A (p.Ter303Arg) | |
| MT | m.4213T>C | CA414774433 | MT-ND1 | c.907T>C (p.Ter303Arg) | |
| MT | m.4213T>G | CA414774434 | MT-ND1 | c.907T>G (p.Ter303Gly) | |
| MT | m.4213T= | CA414774435 | MT-ND1 | c.907T= (p.Ter303=) | |
| MT | m.4214G>A | CA414774436 | MT-ND1 | c.908G>A (p.Ter303=) | |
| MT | m.4214G>C | CA414774437 | MT-ND1 | c.908G>C (p.Ter303Ser) | |
| MT | m.4214G= | CA414774438 | MT-ND1 | c.908G= (p.Ter303=) | |
| MT | m.4214G>T | CA414774439 | MT-ND1 | c.908G>T (p.Ter303Leu) | |
| MT | m.4215A= | CA414774440 | MT-ND1 | c.909A= (p.Ter303=) | |
| MT | m.4215A>C | CA414774443 | MT-ND1 | c.909A>C (p.Ter303Cys) | |
| MT | m.4215A>G | CA414774442 | MT-ND1 | c.909A>G (p.Ter303Trp) | dbSNP |
| MT | m.4215A>T | CA414774441 | MT-ND1 | c.909A>T (p.Ter303Cys) | |
| MT | m.4216T>A | CA414774444 | MT-ND1 | c.910T>A (p.Tyr304Asn) | |
| MT | m.4216T>C | CA340943 | MT-ND1 | c.910T>C (p.Tyr304His) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.4216T>G | CA414774445 | MT-ND1 | c.910T>G (p.Tyr304Asp) | |
| MT | m.4216T= | CA2499563784 | MT-ND1 | c.910T= (p.Tyr304=) | |
| MT | m.4217A= | CA2573329446 | MT-ND1 | c.911A= (p.Tyr304=) | |
| MT | m.4217A>C | CA414774446 | MT-ND1 | c.911A>C (p.Tyr304Ser) | |
| MT | m.4217A>G | CA414774447 | MT-ND1 | c.911A>G (p.Tyr304Cys) | |
| MT | m.4217A>T | CA414774448 | MT-ND1 | c.911A>T (p.Tyr304Phe) | |
| MT | m.4218T>A | CA414774449 | MT-ND1 | c.912T>A (p.Tyr304Ter) | |
| MT | m.4218T>C | CA10581348 | MT-ND1 | c.912T>C (p.Tyr304=) | ClinVar dbSNP |
| MT | m.4218T>G | CA414774450 | MT-ND1 | c.912T>G (p.Tyr304Ter) | |
| MT | m.4218T= | CA2499563785 | MT-ND1 | c.912T= (p.Tyr304=) | |
| MT | m.4218_4235del | CA2740098103 | MT-ND1 | c.912_929del (p.Tyr304Ter) | |
| MT | m.4219G>A | CA10581273 | MT-ND1 | c.913G>A (p.Val305Ile) | ClinVar dbSNP |
| MT | m.4219G>C | CA414774452 | MT-ND1 | c.913G>C (p.Val305Leu) | |
| MT | m.4219G= | CA2499563786 | MT-ND1 | c.913G= (p.Val305=) | |
| MT | m.4219G>T | CA414774451 | MT-ND1 | c.913G>T (p.Val305Phe) | |
| MT | m.4220T>A | CA414774453 | MT-ND1 | c.914T>A (p.Val305Asp) | |
| MT | m.4220T>C | CA414774455 | MT-ND1 | c.914T>C (p.Val305Ala) | |
| MT | m.4220T>G | CA414774454 | MT-ND1 | c.914T>G (p.Val305Gly) | |
| MT | m.4220T= | CA2513293046 | MT-ND1 | c.914T= (p.Val305=) | |
| MT | m.4221C>A | CA913177332 | MT-ND1 | c.915C>A (p.Val305=) | dbSNP |
| MT | m.4221C= | CA2499563787 | MT-ND1 | c.915C= (p.Val305=) | |
| MT | m.4221C>G | CA913177330 | MT-ND1 | c.915C>G (p.Val305=) | |
| MT | m.4221C>T | CA337096824 | MT-ND1 | c.915C>T (p.Val305=) | dbSNP |
| MT | m.4222T>A | CA414774456 | MT-ND1 | c.916T>A (p.Ser306Thr) | |
| MT | m.4222T>C | CA414774457 | MT-ND1 | c.916T>C (p.Ser306Pro) | |
| MT | m.4222T>G | CA414774458 | MT-ND1 | c.916T>G (p.Ser306Ala) | |
| MT | m.4222T= | CA2573329460 | MT-ND1 | c.916T= (p.Ser306=) | |
| MT | m.4223C>A | CA414774459 | MT-ND1 | c.917C>A (p.Ser306Tyr) | |
| MT | m.4223C= | CA2499563788 | MT-ND1 | c.917C= (p.Ser306=) | |
| MT | m.4223C>G | CA414774460 | MT-ND1 | c.917C>G (p.Ser306Cys) | |
| MT | m.4223C>T | CA337096826 | MT-ND1 | c.917C>T (p.Ser306Phe) | dbSNP |
| MT | m.4224C>A | CA913177364 | MT-ND1 | c.918C>A (p.Ser306=) | |
| MT | m.4224C= | CA2499563789 | MT-ND1 | c.918C= (p.Ser306=) | |
| MT | m.4224C>G | CA913177362 | MT-ND1 | c.918C>G (p.Ser306=) | |
| MT | m.4224C>T | CA645608456 | MT-ND1 | c.918C>T (p.Ser306=) | dbSNP COSMIC COSMIC |
| MT | m.4225A= | CA2499563790 | MT-ND1 | c.919A= (p.Ile307=) | |
| MT | m.4225A>C | CA414774461 | MT-ND1 | c.919A>C (p.Ile307Leu) | |
| MT | m.4225A>G | CA414774462 | MT-ND1 | c.919A>G (p.Ile307Val) | ClinVar dbSNP |
| MT | m.4225A>T | CA414774463 | MT-ND1 | c.919A>T (p.Ile307Leu) | |
| MT | m.4226_4227del | CA2573104459 | MT-ND1 | c.920_921del (p.Ile307ThrfsTer?) | |
| MT | m.4226T>A | CA414774464 | MT-ND1 | c.920T>A (p.Ile307Lys) | |
| MT | m.4226T>C | CA414774465 | MT-ND1 | c.920T>C (p.Ile307Thr) | ClinVar dbSNP |
| MT | m.4226T>G | CA414774466 | MT-ND1 | c.920T>G (p.Ile307Arg) | |
| MT | m.4226T= | CA2499563791 | MT-ND1 | c.920T= (p.Ile307=) | |
| MT | m.4227A= | CA2499563792 | MT-ND1 | c.921A= (p.Ile307=) | |
| MT | m.4227A>C | CA913177378 | MT-ND1 | c.921A>C (p.Ile307=) | |
| MT | m.4227A>G | CA414774467 | MT-ND1 | c.921A>G (p.Ile307Met) | dbSNP |
| MT | m.4227A>T | CA913177379 | MT-ND1 | c.921A>T (p.Ile307=) | |
| MT | m.4228C>A | CA414774468 | MT-ND1 | c.922C>A (p.Pro308Thr) | |
| MT | m.4228C= | CA2573329471 | MT-ND1 | c.922C= (p.Pro308=) | |
| MT | m.4228C>G | CA414774469 | MT-ND1 | c.922C>G (p.Pro308Ala) | |
| MT | m.4228C>T | CA414774470 | MT-ND1 | c.922C>T (p.Pro308Ser) | |
| MT | m.4229C>A | CA414774471 | MT-ND1 | c.923C>A (p.Pro308His) | |
| MT | m.4229C= | CA2573329473 | MT-ND1 | c.923C= (p.Pro308=) | |
| MT | m.4229C>G | CA414774472 | MT-ND1 | c.923C>G (p.Pro308Arg) | |
| MT | m.4229C>T | CA414774473 | MT-ND1 | c.923C>T (p.Pro308Leu) | |
| MT | m.4230C>A | CA913177398 | MT-ND1 | c.924C>A (p.Pro308=) | |
| MT | m.4230C= | CA2573329475 | MT-ND1 | c.924C= (p.Pro308=) | |
| MT | m.4230C>G | CA913177397 | MT-ND1 | c.924C>G (p.Pro308=) | |
| MT | m.4230C>T | CA913177396 | MT-ND1 | c.924C>T (p.Pro308=) | |
| MT | m.4231A= | CA2499563793 | MT-ND1 | c.925A= (p.Ile309=) | |
| MT | m.4231A>C | CA414774474 | MT-ND1 | c.925A>C (p.Ile309Leu) | |
| MT | m.4231A>G | CA337096828 | MT-ND1 | c.925A>G (p.Ile309Val) | ClinVar dbSNP |
| MT | m.4231A>T | CA414774475 | MT-ND1 | c.925A>T (p.Ile309Phe) | |
| MT | m.4232T>A | CA414774476 | MT-ND1 | c.926T>A (p.Ile309Asn) | |
| MT | m.4232T>C | CA414774477 | MT-ND1 | c.926T>C (p.Ile309Thr) | ClinVar dbSNP |
| MT | m.4232T>G | CA414774478 | MT-ND1 | c.926T>G (p.Ile309Ser) | |
| MT | m.4232T= | CA2499563794 | MT-ND1 | c.926T= (p.Ile309=) | |
| MT | m.4233T>A | CA913177437 | MT-ND1 | c.927T>A (p.Ile309=) | |
| MT | m.4233T>C | CA913177435 | MT-ND1 | c.927T>C (p.Ile309=) | |
| MT | m.4233T>G | CA414774479 | MT-ND1 | c.927T>G (p.Ile309Met) | |
| MT | m.4233T= | CA2573329482 | MT-ND1 | c.927T= (p.Ile309=) | |
| MT | m.4234A= | CA2499563795 | MT-ND1 | c.928A= (p.Thr310=) | |
| MT | m.4234A>C | CA414774482 | MT-ND1 | c.928A>C (p.Thr310Pro) | |
| MT | m.4234A>G | CA414774480 | MT-ND1 | c.928A>G (p.Thr310Ala) | ClinVar dbSNP |
| MT | m.4234A>T | CA414774481 | MT-ND1 | c.928A>T (p.Thr310Ser) | |
| MT | m.4235C>A | CA414774483 | MT-ND1 | c.929C>A (p.Thr310Lys) | |
| MT | m.4235C= | CA2573329485 | MT-ND1 | c.929C= (p.Thr310=) | |
| MT | m.4235C>G | CA414774484 | MT-ND1 | c.929C>G (p.Thr310Arg) | |
| MT | m.4235C>T | CA414774485 | MT-ND1 | c.929C>T (p.Thr310Ile) | |
| MT | m.4236A= | CA2499563796 | MT-ND1 | c.930A= (p.Thr310=) | |
| MT | m.4236A>C | CA913177463 | MT-ND1 | c.930A>C (p.Thr310=) | |
| MT | m.4236A>G | CA913177457 | MT-ND1 | c.930A>G (p.Thr310=) | dbSNP |
| MT | m.4236A>T | CA913177465 | MT-ND1 | c.930A>T (p.Thr310=) | |
| MT | m.4237A= | CA2573329488 | MT-ND1 | c.931A= (p.Ile311=) | |
| MT | m.4237A>C | CA414774486 | MT-ND1 | c.931A>C (p.Ile311Leu) | |
| MT | m.4237A>G | CA414774487 | MT-ND1 | c.931A>G (p.Ile311Val) | |
| MT | m.4237A>T | CA414774488 | MT-ND1 | c.931A>T (p.Ile311Phe) | |
| MT | m.4238T>A | CA414774489 | MT-ND1 | c.932T>A (p.Ile311Asn) | |
| MT | m.4238T>C | CA414774490 | MT-ND1 | c.932T>C (p.Ile311Thr) | ClinVar dbSNP |
| MT | m.4238T>G | CA414774491 | MT-ND1 | c.932T>G (p.Ile311Ser) | |
| MT | m.4238T= | CA2499563797 | MT-ND1 | c.932T= (p.Ile311=) | |
| MT | m.4239C>A | CA913177491 | MT-ND1 | c.933C>A (p.Ile311=) | |
| MT | m.4239C= | CA2573329493 | MT-ND1 | c.933C= (p.Ile311=) | |
| MT | m.4239C>G | CA414774492 | MT-ND1 | c.933C>G (p.Ile311Met) | |
| MT | m.4239C>T | CA913177483 | MT-ND1 | c.933C>T (p.Ile311=) | |
| MT | m.4240T>A | CA414774495 | MT-ND1 | c.934T>A (p.Ser312Thr) | |
| MT | m.4240T>C | CA414774493 | MT-ND1 | c.934T>C (p.Ser312Pro) | |
| MT | m.4240T>G | CA414774494 | MT-ND1 | c.934T>G (p.Ser312Ala) | |
| MT | m.4240T= | CA2573329494 | MT-ND1 | c.934T= (p.Ser312=) | |
| MT | m.4241C>A | CA414774496 | MT-ND1 | c.935C>A (p.Ser312Tyr) | |
| MT | m.4241C= | CA2573329495 | MT-ND1 | c.935C= (p.Ser312=) | |
| MT | m.4241C>G | CA414774497 | MT-ND1 | c.935C>G (p.Ser312Cys) | |
| MT | m.4241C>T | CA414774498 | MT-ND1 | c.935C>T (p.Ser312Phe) | |
| MT | m.4242C>A | CA913177497 | MT-ND1 | c.936C>A (p.Ser312=) | |
| MT | m.4242C= | CA2499563798 | MT-ND1 | c.936C= (p.Ser312=) | |
| MT | m.4242C>G | CA913177496 | MT-ND1 | c.936C>G (p.Ser312=) | |
| MT | m.4242C>T | CA913177495 | MT-ND1 | c.936C>T (p.Ser312=) | ClinVar dbSNP |
| MT | m.4243A= | CA2499563799 | MT-ND1 | c.937A= (p.Ser313=) | |
| MT | m.4243A>C | CA414774499 | MT-ND1 | c.937A>C (p.Ser313Arg) | |
| MT | m.4243A>G | CA414774500 | MT-ND1 | c.937A>G (p.Ser313Gly) | ClinVar dbSNP |
| MT | m.4243A>T | CA414774501 | MT-ND1 | c.937A>T (p.Ser313Cys) | |
| MT | m.4244G>A | CA414774502 | MT-ND1 | c.938G>A (p.Ser313Asn) | dbSNP |
| MT | m.4244G>C | CA414774503 | MT-ND1 | c.938G>C (p.Ser313Thr) | |
| MT | m.4244G= | CA2573329498 | MT-ND1 | c.938G= (p.Ser313=) | |
| MT | m.4244G>T | CA414774504 | MT-ND1 | c.938G>T (p.Ser313Ile) | |
| MT | m.4245C>A | CA414774505 | MT-ND1 | c.939C>A (p.Ser313Arg) | |
| MT | m.4245C= | CA2499563800 | MT-ND1 | c.939C= (p.Ser313=) | |
| MT | m.4245C>G | CA414774506 | MT-ND1 | c.939C>G (p.Ser313Arg) | |
| MT | m.4245C>T | CA913177498 | MT-ND1 | c.939C>T (p.Ser313=) | dbSNP |
| MT | m.4246A= | CA2499563801 | MT-ND1 | c.940A= (p.Ile314=) | |
| MT | m.4246A>C | CA414774507 | MT-ND1 | c.940A>C (p.Ile314Leu) | |
| MT | m.4246A>G | CA414774509 | MT-ND1 | c.940A>G (p.Ile314Val) | dbSNP |
| MT | m.4246A>T | CA414774508 | MT-ND1 | c.940A>T (p.Ile314Phe) | |
| MT | m.4247T>A | CA414774510 | MT-ND1 | c.941T>A (p.Ile314Asn) | |
| MT | m.4247T>C | CA414774512 | MT-ND1 | c.941T>C (p.Ile314Thr) | ClinVar dbSNP |
| MT | m.4247T>G | CA414774511 | MT-ND1 | c.941T>G (p.Ile314Ser) | |
| MT | m.4247T= | CA2499563802 | MT-ND1 | c.941T= (p.Ile314=) | |
| MT | m.4248T>A | CA913177503 | MT-ND1 | c.942T>A (p.Ile314=) | dbSNP |
| MT | m.4248T>C | CA337096830 | MT-ND1 | c.942T>C (p.Ile314=) | ClinVar dbSNP |
| MT | m.4248T>G | CA414774513 | MT-ND1 | c.942T>G (p.Ile314Met) | |
| MT | m.4248T= | CA2499563803 | MT-ND1 | c.942T= (p.Ile314=) | |
| MT | m.4249C>A | CA414774514 | MT-ND1 | c.943C>A (p.Pro315Thr) | |
| MT | m.4249C= | CA2573329502 | MT-ND1 | c.943C= (p.Pro315=) | |
| MT | m.4249C>G | CA414774515 | MT-ND1 | c.943C>G (p.Pro315Ala) | |
| MT | m.4249C>T | CA414774516 | MT-ND1 | c.943C>T (p.Pro315Ser) | |
| MT | m.4250C>A | CA414774517 | MT-ND1 | c.944C>A (p.Pro315His) | |
| MT | m.4250C= | CA2573329503 | MT-ND1 | c.944C= (p.Pro315=) | |
| MT | m.4250C>G | CA414774518 | MT-ND1 | c.944C>G (p.Pro315Arg) | |
| MT | m.4250C>T | CA414774519 | MT-ND1 | c.944C>T (p.Pro315Leu) | |
| MT | m.4251C>A | CA913177509 | MT-ND1 | c.945C>A (p.Pro315=) | |
| MT | m.4251C= | CA2499563804 | MT-ND1 | c.945C= (p.Pro315=) | |
| MT | m.4251C>G | CA913177508 | MT-ND1 | c.945C>G (p.Pro315=) | |
| MT | m.4251C>T | CA913177507 | MT-ND1 | c.945C>T (p.Pro315=) | dbSNP |
| MT | m.4252C>A | CA414774520 | MT-ND1 | c.946C>A (p.Pro316Thr) | |
| MT | m.4252C= | CA2573329507 | MT-ND1 | c.946C= (p.Pro316=) | |
| MT | m.4252C>G | CA414774521 | MT-ND1 | c.946C>G (p.Pro316Ala) | |
| MT | m.4252C>T | CA414774522 | MT-ND1 | c.946C>T (p.Pro316Ser) | |
| MT | m.4253C>A | CA414774523 | MT-ND1 | c.947C>A (p.Pro316His) | |
| MT | m.4253C= | CA2573329508 | MT-ND1 | c.947C= (p.Pro316=) | |
| MT | m.4253C>G | CA414774525 | MT-ND1 | c.947C>G (p.Pro316Arg) | |
| MT | m.4253C>T | CA414774524 | MT-ND1 | c.947C>T (p.Pro316Leu) | |
| MT | m.4254T>A | CA913177513 | MT-ND1 | c.948T>A (p.Pro316=) | |
| MT | m.4254T>C | CA913177512 | MT-ND1 | c.948T>C (p.Pro316=) | dbSNP |
| MT | m.4254T>G | CA913177511 | MT-ND1 | c.948T>G (p.Pro316=) | |
| MT | m.4254T= | CA2499563805 | MT-ND1 | c.948T= (p.Pro316=) | |
| MT | m.4255C>A | CA414774526 | MT-ND1 | c.949C>A (p.Gln317Lys) | |
| MT | m.4255C= | CA2573329511 | MT-ND1 | c.949C= (p.Gln317=) | |
| MT | m.4255C>G | CA414774527 | MT-ND1 | c.949C>G (p.Gln317Glu) | |
| MT | m.4255C>T | CA414774528 | MT-ND1 | c.949C>T (p.Gln317Ter) | |
| MT | m.4255dup | CA2740098104 | MT-ND1 | c.949dup (p.Gln317ProfsTer?) | |
| MT | m.4256A= | CA2573329513 | MT-ND1 | c.950A= (p.Gln317=) | |
| MT | m.4256A>C | CA414774529 | MT-ND1 | c.950A>C (p.Gln317Pro) | |
| MT | m.4256A>G | CA414774530 | MT-ND1 | c.950A>G (p.Gln317Arg) | |
| MT | m.4256A>T | CA414774531 | MT-ND1 | c.950A>T (p.Gln317Leu) | |
| MT | m.4257A= | CA2499563806 | MT-ND1 | c.951A= (p.Gln317=) | |
| MT | m.4257A>C | CA414774532 | MT-ND1 | c.951A>C (p.Gln317His) | |
| MT | m.4257A>G | CA913177514 | MT-ND1 | c.951A>G (p.Gln317=) | dbSNP |
| MT | m.4257A>T | CA414774533 | MT-ND1 | c.951A>T (p.Gln317His) | |
| MT | m.4258A= | CA2499563807 | MT-ND1 | c.952A= (p.Thr318=) | |
| MT | m.4258A>C | CA414774535 | MT-ND1 | c.952A>C (p.Thr318Pro) | |
| MT | m.4258A>G | CA414774536 | MT-ND1 | c.952A>G (p.Thr318Ala) | ClinVar dbSNP |
| MT | m.4258A>T | CA414774534 | MT-ND1 | c.952A>T (p.Thr318Ser) | |
| MT | m.4259C>A | CA414774537 | MT-ND1 | c.953C>A (p.Thr318Asn) | |
| MT | m.4259C= | CA2573329518 | MT-ND1 | c.953C= (p.Thr318=) | |
| MT | m.4259C>G | CA414774538 | MT-ND1 | c.953C>G (p.Thr318Ser) | |
| MT | m.4259C>T | CA414774539 | MT-ND1 | c.953C>T (p.Thr318Ile) | |
| MT | m.4260C>A | CA913177515 | MT-ND1 | c.954C>A (p.Thr318=) | |
| MT | m.4260C= | CA2499563808 | MT-ND1 | c.954C= (p.Thr318=) | |
| MT | m.4260C>G | CA913177516 | MT-ND1 | c.954C>G (p.Thr318=) | |
| MT | m.4260C>T | CA337096832 | MT-ND1 | c.954C>T (p.Thr318=) | dbSNP |
| MT | m.4261T>A | CA913177520 | MT-ND1 | c.955T>A | |
| MT | m.4261T>C | CA913177519 | MT-ND1 | c.955T>C | |
| MT | m.4261T>G | CA913177518 | MT-ND1 | c.955T>G | |
| MT | m.4261T= | CA2573329522 | MT-ND1 | c.955T= | |
| MT | m.4262A= | CA2573329525 | MT-ND1 | c.956A= | |
| MT | m.4262A>C | CA913177521 | MT-ND1 | c.956A>C | |
| MT | m.4262A>G | CA913177522 | MT-ND1 | c.956A>G | |
| MT | m.4262A>T | CA913177523 | MT-ND1 | c.956A>T | |
| MT | m.4263A= | CA2573329529 | |||
| MT | m.4263A>C | CA913177524 | |||
| MT | m.4263A>G | CA913177525 | |||
| MT | m.4263A>T | CA913177526 | |||
| MT | m.4264_4269dup | CA2573104460 | |||
| MT | m.4264G>A | CA658475592 | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC | ||
| MT | m.4264G>C | CA913177527 | |||
| MT | m.4264G= | CA2499563809 | |||
| MT | m.4264G>T | CA913177528 | |||
| MT | m.4265A= | CA2573329536 | |||
| MT | m.4265A>C | CA913177529 | |||
| MT | m.4265A>G | CA913177534 | |||
| MT | m.4265A>T | CA913177533 | |||
| MT | m.4266A= | CA2573329539 | |||
| MT | m.4266A>C | CA913177537 | |||
| MT | m.4266A>G | CA913177536 | |||
| MT | m.4266A>T | CA913177535 |