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.10110A= | CA2499566605 | MT-ND3 | c.52A= (p.Ile18=) | |
| MT | m.10110A>C | CA414804288 | MT-ND3 | c.52A>C (p.Ile18Leu) | |
| MT | m.10110A>G | CA414804289 | MT-ND3 | c.52A>G (p.Ile18Val) | ClinVar dbSNP |
| MT | m.10110A>T | CA414804290 | MT-ND3 | c.52A>T (p.Ile18Leu) | |
| MT | m.10111T>A | CA414804291 | MT-ND3 | c.53T>A (p.Ile18Lys) | |
| MT | m.10111T>C | CA414804292 | MT-ND3 | c.53T>C (p.Ile18Thr) | ClinVar dbSNP |
| MT | m.10111T>G | CA414804293 | MT-ND3 | c.53T>G (p.Ile18Arg) | |
| MT | m.10111T= | CA2499566606 | MT-ND3 | c.53T= (p.Ile18=) | |
| MT | m.10112A= | CA2499566607 | MT-ND3 | c.54A= (p.Ile18=) | |
| MT | m.10112A>C | CA913162015 | MT-ND3 | c.54A>C (p.Ile18=) | |
| MT | m.10112A>G | CA414804294 | MT-ND3 | c.54A>G (p.Ile18Met) | dbSNP |
| MT | m.10112A>T | CA913162016 | MT-ND3 | c.54A>T (p.Ile18=) | |
| MT | m.10113A= | CA2499566608 | MT-ND3 | c.55A= (p.Ile19=) | |
| MT | m.10113A>C | CA414804296 | MT-ND3 | c.55A>C (p.Ile19Leu) | |
| MT | m.10113A>G | CA414804297 | MT-ND3 | c.55A>G (p.Ile19Val) | ClinVar dbSNP |
| MT | m.10113A>T | CA414804295 | MT-ND3 | c.55A>T (p.Ile19Phe) | |
| MT | m.10114T>A | CA414804298 | MT-ND3 | c.56T>A (p.Ile19Asn) | |
| MT | m.10114T>C | CA337098698 | MT-ND3 | c.56T>C (p.Ile19Thr) | dbSNP |
| MT | m.10114T>G | CA414804299 | MT-ND3 | c.56T>G (p.Ile19Ser) | |
| MT | m.10114T= | CA2499566609 | MT-ND3 | c.56T= (p.Ile19=) | |
| MT | m.10115T>A | CA913162017 | MT-ND3 | c.57T>A (p.Ile19=) | |
| MT | m.10115T>C | CA337098701 | MT-ND3 | c.57T>C (p.Ile19=) | dbSNP |
| MT | m.10115T>G | CA414804300 | MT-ND3 | c.57T>G (p.Ile19Met) | |
| MT | m.10115T= | CA2499566610 | MT-ND3 | c.57T= (p.Ile19=) | |
| MT | m.10116_10117del | CA2573105053 | MT-ND3 | c.58_59del (p.Ile20TyrfsTer?) | |
| MT | m.10116A= | CA2499566611 | MT-ND3 | c.58A= (p.Ile20=) | |
| MT | m.10116A>C | CA414804301 | MT-ND3 | c.58A>C (p.Ile20Leu) | |
| MT | m.10116A>G | CA414804302 | MT-ND3 | c.58A>G (p.Ile20Val) | dbSNP |
| MT | m.10116A>T | CA414804303 | MT-ND3 | c.58A>T (p.Ile20Phe) | |
| MT | m.10117T>A | CA414804304 | MT-ND3 | c.59T>A (p.Ile20Asn) | |
| MT | m.10117T>C | CA414804305 | MT-ND3 | c.59T>C (p.Ile20Thr) | dbSNP |
| MT | m.10117T>G | CA414804306 | MT-ND3 | c.59T>G (p.Ile20Ser) | |
| MT | m.10117T= | CA2499566612 | MT-ND3 | c.59T= (p.Ile20=) | |
| MT | m.10118T>A | CA913162020 | MT-ND3 | c.60T>A (p.Ile20=) | |
| MT | m.10118T>C | CA337098704 | MT-ND3 | c.60T>C (p.Ile20=) | dbSNP |
| MT | m.10118T>G | CA414804307 | MT-ND3 | c.60T>G (p.Ile20Met) | |
| MT | m.10118T= | CA2499566613 | MT-ND3 | c.60T= (p.Ile20=) | |
| MT | m.10119A= | CA2573325068 | MT-ND3 | c.61A= (p.Thr21=) | |
| MT | m.10119A>C | CA414804310 | MT-ND3 | c.61A>C (p.Thr21Pro) | |
| MT | m.10119A>G | CA414804309 | MT-ND3 | c.61A>G (p.Thr21Ala) | |
| MT | m.10119A>T | CA414804308 | MT-ND3 | c.61A>T (p.Thr21Ser) | |
| MT | m.10120C>A | CA414804311 | MT-ND3 | c.62C>A (p.Thr21Lys) | |
| MT | m.10120C= | CA2573325072 | MT-ND3 | c.62C= (p.Thr21=) | |
| MT | m.10120C>G | CA414804312 | MT-ND3 | c.62C>G (p.Thr21Arg) | |
| MT | m.10120C>T | CA414804313 | MT-ND3 | c.62C>T (p.Thr21Ile) | |
| MT | m.10121A= | CA2573325074 | MT-ND3 | c.63A= (p.Thr21=) | |
| MT | m.10121A>C | CA913162028 | MT-ND3 | c.63A>C (p.Thr21=) | |
| MT | m.10121A>G | CA913162030 | MT-ND3 | c.63A>G (p.Thr21=) | |
| MT | m.10121A>T | CA913162031 | MT-ND3 | c.63A>T (p.Thr21=) | |
| MT | m.10122T>A | CA414804314 | MT-ND3 | c.64T>A (p.Phe22Ile) | |
| MT | m.10122T>C | CA414804315 | MT-ND3 | c.64T>C (p.Phe22Leu) | |
| MT | m.10122T>G | CA414804316 | MT-ND3 | c.64T>G (p.Phe22Val) | |
| MT | m.10122T= | CA2573325077 | MT-ND3 | c.64T= (p.Phe22=) | |
| MT | m.10125dup | CA2573105054 | MT-ND3 | c.67dup (p.Ter23LeuextTer?) | |
| MT | m.10123T>A | CA414804317 | MT-ND3 | c.65T>A (p.Phe22Tyr) | |
| MT | m.10123T>C | CA414804318 | MT-ND3 | c.65T>C (p.Phe22Ser) | |
| MT | m.10123T>G | CA414804319 | MT-ND3 | c.65T>G (p.Phe22Cys) | |
| MT | m.10123T= | CA2573325082 | MT-ND3 | c.65T= (p.Phe22=) | |
| MT | m.10124T>A | CA414804320 | MT-ND3 | c.66T>A (p.Phe22Leu) | |
| MT | m.10124T>C | CA913162041 | MT-ND3 | c.66T>C (p.Phe22=) | dbSNP |
| MT | m.10124T>G | CA414804321 | MT-ND3 | c.66T>G (p.Phe22Leu) | |
| MT | m.10124T= | CA2499566614 | MT-ND3 | c.66T= (p.Phe22=) | |
| MT | m.10125T>A | CA414804324 | MT-ND3 | c.67T>A (p.Ter23Arg) | |
| MT | m.10125T>C | CA414804325 | MT-ND3 | c.67T>C (p.Ter23Arg) | |
| MT | m.10125T>G | CA414804323 | MT-ND3 | c.67T>G (p.Ter23Gly) | |
| MT | m.10125T= | CA414804322 | MT-ND3 | c.67T= (p.Ter23=) | |
| MT | m.10126G>A | CA414804326 | MT-ND3 | c.68G>A (p.Ter23=) | dbSNP |
| MT | m.10126G>C | CA414804327 | MT-ND3 | c.68G>C (p.Ter23Ser) | |
| MT | m.10126G= | CA414804328 | MT-ND3 | c.68G= (p.Ter23=) | |
| MT | m.10126G>T | CA414804329 | MT-ND3 | c.68G>T (p.Ter23Leu) | |
| MT | m.10127A= | CA414804330 | MT-ND3 | c.69A= (p.Ter23=) | |
| MT | m.10127A>C | CA414804331 | MT-ND3 | c.69A>C (p.Ter23Cys) | |
| MT | m.10127A>G | CA337098710 | MT-ND3 | c.69A>G (p.Ter23Trp) | dbSNP |
| MT | m.10127A>T | CA414804332 | MT-ND3 | c.69A>T (p.Ter23Cys) | |
| MT | m.10128C>A | CA337098712 | MT-ND3 | c.70C>A (p.Leu24Ile) | dbSNP |
| MT | m.10128C= | CA2499566615 | MT-ND3 | c.70C= (p.Leu24=) | |
| MT | m.10128C>G | CA414804333 | MT-ND3 | c.70C>G (p.Leu24Val) | |
| MT | m.10128C>T | CA913162048 | MT-ND3 | c.70C>T (p.Leu24=) | dbSNP |
| MT | m.10129T>A | CA414804336 | MT-ND3 | c.71T>A (p.Leu24Gln) | |
| MT | m.10129T>C | CA414804335 | MT-ND3 | c.71T>C (p.Leu24Pro) | |
| MT | m.10129T>G | CA414804334 | MT-ND3 | c.71T>G (p.Leu24Arg) | |
| MT | m.10129T= | CA2573325097 | MT-ND3 | c.71T= (p.Leu24=) | |
| MT | m.10130A= | CA2499566616 | MT-ND3 | c.72A= (p.Leu24=) | |
| MT | m.10130A>C | CA913162055 | MT-ND3 | c.72A>C (p.Leu24=) | |
| MT | m.10130A>G | CA913162056 | MT-ND3 | c.72A>G (p.Leu24=) | dbSNP |
| MT | m.10130A>T | CA913162057 | MT-ND3 | c.72A>T (p.Leu24=) | dbSNP |
| MT | m.10131C>A | CA414804337 | MT-ND3 | c.73C>A (p.Pro25Thr) | |
| MT | m.10131C= | CA2573325102 | MT-ND3 | c.73C= (p.Pro25=) | |
| MT | m.10131C>G | CA414804338 | MT-ND3 | c.73C>G (p.Pro25Ala) | |
| MT | m.10131C>T | CA414804339 | MT-ND3 | c.73C>T (p.Pro25Ser) | |
| MT | m.10132C>A | CA414804340 | MT-ND3 | c.74C>A (p.Pro25Gln) | |
| MT | m.10132C= | CA2573325110 | MT-ND3 | c.74C= (p.Pro25=) | |
| MT | m.10132C>G | CA414804341 | MT-ND3 | c.74C>G (p.Pro25Arg) | |
| MT | m.10132C>T | CA414804342 | MT-ND3 | c.74C>T (p.Pro25Leu) | |
| MT | m.10133A= | CA2499566617 | MT-ND3 | c.75A= (p.Pro25=) | |
| MT | m.10133A>C | CA337098714 | MT-ND3 | c.75A>C (p.Pro25=) | dbSNP |
| MT | m.10133A>G | CA913162064 | MT-ND3 | c.75A>G (p.Pro25=) | dbSNP |
| MT | m.10133A>T | CA913162068 | MT-ND3 | c.75A>T (p.Pro25=) | |
| MT | m.10134C>A | CA270779 | MT-ND3 | c.76C>A (p.Gln26Lys) | ClinVar dbSNP |
| MT | m.10134C= | CA2499566618 | MT-ND3 | c.76C= (p.Gln26=) | |
| MT | m.10134C>G | CA414804343 | MT-ND3 | c.76C>G (p.Gln26Glu) | |
| MT | m.10134C>T | CA414804344 | MT-ND3 | c.76C>T (p.Gln26Ter) | |
| MT | m.10135A= | CA2499566619 | MT-ND3 | c.77A= (p.Gln26=) | |
| MT | m.10135A>C | CA414804345 | MT-ND3 | c.77A>C (p.Gln26Pro) | |
| MT | m.10135A>G | CA337098718 | MT-ND3 | c.77A>G (p.Gln26Arg) | dbSNP |
| MT | m.10135A>T | CA414804346 | MT-ND3 | c.77A>T (p.Gln26Leu) | |
| MT | m.10136A= | CA2499566620 | MT-ND3 | c.78A= (p.Gln26=) | |
| MT | m.10136A>C | CA414804347 | MT-ND3 | c.78A>C (p.Gln26His) | |
| MT | m.10136A>G | CA913162086 | MT-ND3 | c.78A>G (p.Gln26=) | dbSNP |
| MT | m.10136A>T | CA414804348 | MT-ND3 | c.78A>T (p.Gln26His) | |
| MT | m.10137C>A | CA414804349 | MT-ND3 | c.79C>A (p.Leu27Ile) | |
| MT | m.10137C= | CA2573325124 | MT-ND3 | c.79C= (p.Leu27=) | |
| MT | m.10137C>G | CA414804351 | MT-ND3 | c.79C>G (p.Leu27Val) | |
| MT | m.10137C>T | CA414804350 | MT-ND3 | c.79C>T (p.Leu27Phe) | |
| MT | m.10138T>A | CA414804352 | MT-ND3 | c.80T>A (p.Leu27His) | |
| MT | m.10138T>C | CA414804353 | MT-ND3 | c.80T>C (p.Leu27Pro) | |
| MT | m.10138T>G | CA414804354 | MT-ND3 | c.80T>G (p.Leu27Arg) | |
| MT | m.10138T= | CA2573325127 | MT-ND3 | c.80T= (p.Leu27=) | |
| MT | m.10139C>A | CA913162095 | MT-ND3 | c.81C>A (p.Leu27=) | |
| MT | m.10139C= | CA2573325129 | MT-ND3 | c.81C= (p.Leu27=) | |
| MT | m.10139C>G | CA913162096 | MT-ND3 | c.81C>G (p.Leu27=) | |
| MT | m.10139C>T | CA913162097 | MT-ND3 | c.81C>T (p.Leu27=) | |
| MT | m.10140A= | CA2573325130 | MT-ND3 | c.82A= (p.Asn28=) | |
| MT | m.10140A>C | CA414804355 | MT-ND3 | c.82A>C (p.Asn28His) | |
| MT | m.10140A>G | CA414804356 | MT-ND3 | c.82A>G (p.Asn28Asp) | |
| MT | m.10140A>T | CA414804357 | MT-ND3 | c.82A>T (p.Asn28Tyr) | |
| MT | m.10141A= | CA2573325134 | MT-ND3 | c.83A= (p.Asn28=) | |
| MT | m.10141A>C | CA414804358 | MT-ND3 | c.83A>C (p.Asn28Thr) | |
| MT | m.10141A>G | CA414804359 | MT-ND3 | c.83A>G (p.Asn28Ser) | |
| MT | m.10141A>T | CA414804360 | MT-ND3 | c.83A>T (p.Asn28Ile) | |
| MT | m.10142C>A | CA414804361 | MT-ND3 | c.84C>A (p.Asn28Lys) | |
| MT | m.10142C= | CA2499566621 | MT-ND3 | c.84C= (p.Asn28=) | |
| MT | m.10142C>G | CA414804362 | MT-ND3 | c.84C>G (p.Asn28Lys) | |
| MT | m.10142C>T | CA337098721 | MT-ND3 | c.84C>T (p.Asn28=) | dbSNP |
| MT | m.10143G>A | CA337098724 | MT-ND3 | c.85G>A (p.Gly29Ser) | ClinVar dbSNP |
| MT | m.10143G>C | CA414804364 | MT-ND3 | c.85G>C (p.Gly29Arg) | |
| MT | m.10143G= | CA2499566622 | MT-ND3 | c.85G= (p.Gly29=) | |
| MT | m.10143G>T | CA414804363 | MT-ND3 | c.85G>T (p.Gly29Cys) | |
| MT | m.10144G>A | CA414804365 | MT-ND3 | c.86G>A (p.Gly29Asp) | dbSNP |
| MT | m.10144G>C | CA414804366 | MT-ND3 | c.86G>C (p.Gly29Ala) | |
| MT | m.10144G= | CA2573325143 | MT-ND3 | c.86G= (p.Gly29=) | |
| MT | m.10144G>T | CA414804367 | MT-ND3 | c.86G>T (p.Gly29Val) | |
| MT | m.10145C>A | CA913162110 | MT-ND3 | c.87C>A (p.Gly29=) | |
| MT | m.10145C= | CA2573325148 | MT-ND3 | c.87C= (p.Gly29=) | |
| MT | m.10145C>G | CA913162112 | MT-ND3 | c.87C>G (p.Gly29=) | |
| MT | m.10145C>T | CA913162116 | MT-ND3 | c.87C>T (p.Gly29=) | |
| MT | m.10146T>A | CA414804368 | MT-ND3 | c.88T>A (p.Tyr30Asn) | |
| MT | m.10146T>C | CA414804369 | MT-ND3 | c.88T>C (p.Tyr30His) | ClinVar dbSNP |
| MT | m.10146T>G | CA414804370 | MT-ND3 | c.88T>G (p.Tyr30Asp) | |
| MT | m.10146T= | CA2499566623 | MT-ND3 | c.88T= (p.Tyr30=) | |
| MT | m.10147A= | CA2573325156 | MT-ND3 | c.89A= (p.Tyr30=) | |
| MT | m.10147A>C | CA414804371 | MT-ND3 | c.89A>C (p.Tyr30Ser) | |
| MT | m.10147A>G | CA414804372 | MT-ND3 | c.89A>G (p.Tyr30Cys) | |
| MT | m.10147A>T | CA414804373 | MT-ND3 | c.89A>T (p.Tyr30Phe) | |
| MT | m.10148C>A | CA414804375 | MT-ND3 | c.90C>A (p.Tyr30Ter) | |
| MT | m.10148C= | CA2573325163 | MT-ND3 | c.90C= (p.Tyr30=) | |
| MT | m.10148C>G | CA414804374 | MT-ND3 | c.90C>G (p.Tyr30Ter) | |
| MT | m.10148C>T | CA913162124 | MT-ND3 | c.90C>T (p.Tyr30=) | |
| MT | m.10149A= | CA2573325166 | MT-ND3 | c.91A= (p.Ile31=) | |
| MT | m.10149A>C | CA414804376 | MT-ND3 | c.91A>C (p.Ile31Leu) | |
| MT | m.10149A>G | CA414804377 | MT-ND3 | c.91A>G (p.Ile31Val) | |
| MT | m.10149A>T | CA414804378 | MT-ND3 | c.91A>T (p.Ile31Leu) | |
| MT | m.10150T>A | CA414804379 | MT-ND3 | c.92T>A (p.Ile31Lys) | |
| MT | m.10150T>C | CA414804380 | MT-ND3 | c.92T>C (p.Ile31Thr) | |
| MT | m.10150T>G | CA414804381 | MT-ND3 | c.92T>G (p.Ile31Arg) | |
| MT | m.10150T= | CA2573325169 | MT-ND3 | c.92T= (p.Ile31=) | |
| MT | m.10151A= | CA2499566624 | MT-ND3 | c.93A= (p.Ile31=) | |
| MT | m.10151A>C | CA913162143 | MT-ND3 | c.93A>C (p.Ile31=) | |
| MT | m.10151A>G | CA414804382 | MT-ND3 | c.93A>G (p.Ile31Met) | dbSNP |
| MT | m.10151A>T | CA913162141 | MT-ND3 | c.93A>T (p.Ile31=) | |
| MT | m.10152G>A | CA414804383 | MT-ND3 | c.94G>A (p.Glu32Lys) | dbSNP |
| MT | m.10152G>C | CA414804384 | MT-ND3 | c.94G>C (p.Glu32Gln) | |
| MT | m.10152G= | CA2499566625 | MT-ND3 | c.94G= (p.Glu32=) | |
| MT | m.10152G>T | CA414804385 | MT-ND3 | c.94G>T (p.Glu32Ter) | |
| MT | m.10153A= | CA2573325176 | MT-ND3 | c.95A= (p.Glu32=) | |
| MT | m.10153A>C | CA414804386 | MT-ND3 | c.95A>C (p.Glu32Ala) | |
| MT | m.10153A>G | CA414804387 | MT-ND3 | c.95A>G (p.Glu32Gly) | |
| MT | m.10153A>T | CA414804388 | MT-ND3 | c.95A>T (p.Glu32Val) | |
| MT | m.10154A= | CA2499566626 | MT-ND3 | c.96A= (p.Glu32=) | |
| MT | m.10154A>C | CA414804389 | MT-ND3 | c.96A>C (p.Glu32Asp) | |
| MT | m.10154A>G | CA337098727 | MT-ND3 | c.96A>G (p.Glu32=) | dbSNP |
| MT | m.10154A>T | CA414804390 | MT-ND3 | c.96A>T (p.Glu32Asp) | |
| MT | m.10155A= | CA2573325184 | MT-ND3 | c.97A= (p.Lys33=) | |
| MT | m.10155A>C | CA414804391 | MT-ND3 | c.97A>C (p.Lys33Gln) | |
| MT | m.10155A>G | CA414804392 | MT-ND3 | c.97A>G (p.Lys33Glu) | |
| MT | m.10155A>T | CA414804393 | MT-ND3 | c.97A>T (p.Lys33Ter) | |
| MT | m.10156A= | CA2573325186 | MT-ND3 | c.98A= (p.Lys33=) | |
| MT | m.10156A>C | CA414804394 | MT-ND3 | c.98A>C (p.Lys33Thr) | |
| MT | m.10156A>G | CA414804395 | MT-ND3 | c.98A>G (p.Lys33Arg) | |
| MT | m.10156A>T | CA414804396 | MT-ND3 | c.98A>T (p.Lys33Ile) | |
| MT | m.10157A= | CA2499566627 | MT-ND3 | c.99A= (p.Lys33=) | |
| MT | m.10157A>C | CA414804397 | MT-ND3 | c.99A>C (p.Lys33Asn) | |
| MT | m.10157A>G | CA913162161 | MT-ND3 | c.99A>G (p.Lys33=) | dbSNP |
| MT | m.10157A>T | CA414804398 | MT-ND3 | c.99A>T (p.Lys33Asn) | |
| MT | m.10158T>A | CA414804399 | MT-ND3 | c.100T>A (p.Ser34Thr) | ClinVar dbSNP |
| MT | m.10158T>C | CA120639 | MT-ND3 | c.100T>C (p.Ser34Pro) | ClinVar dbSNP |
| MT | m.10158T>G | CA414804400 | MT-ND3 | c.100T>G (p.Ser34Ala) | |
| MT | m.10158T= | CA2499566628 | MT-ND3 | c.100T= (p.Ser34=) | |
| MT | m.10159C>A | CA414804402 | MT-ND3 | c.101C>A (p.Ser34Tyr) | ClinVar dbSNP |
| MT | m.10159C= | CA2499566629 | MT-ND3 | c.101C= (p.Ser34=) | |
| MT | m.10159C>G | CA414804403 | MT-ND3 | c.101C>G (p.Ser34Cys) | |
| MT | m.10159C>T | CA414804401 | MT-ND3 | c.101C>T (p.Ser34Phe) | |
| MT | m.10160C>A | CA913162171 | MT-ND3 | c.102C>A (p.Ser34=) | |
| MT | m.10160C= | CA2499566630 | MT-ND3 | c.102C= (p.Ser34=) | |
| MT | m.10160C>G | CA913162172 | MT-ND3 | c.102C>G (p.Ser34=) | |
| MT | m.10160C>T | CA913162173 | MT-ND3 | c.102C>T (p.Ser34=) | dbSNP |
| MT | m.10161A= | CA2499566631 | MT-ND3 | c.103A= (p.Thr35=) | |
| MT | m.10161A>C | CA414804405 | MT-ND3 | c.103A>C (p.Thr35Pro) | |
| MT | m.10161A>G | CA414804404 | MT-ND3 | c.103A>G (p.Thr35Ala) | dbSNP |
| MT | m.10161A>T | CA414804406 | MT-ND3 | c.103A>T (p.Thr35Ser) | ClinVar dbSNP |
| MT | m.10162C>A | CA414804407 | MT-ND3 | c.104C>A (p.Thr35Asn) | |
| MT | m.10162C= | CA2573325207 | MT-ND3 | c.104C= (p.Thr35=) | |
| MT | m.10162C>G | CA414804409 | MT-ND3 | c.104C>G (p.Thr35Ser) | |
| MT | m.10162C>T | CA414804408 | MT-ND3 | c.104C>T (p.Thr35Ile) | |
| MT | m.10163C>A | CA913162177 | MT-ND3 | c.105C>A (p.Thr35=) | |
| MT | m.10163C= | CA2499566632 | MT-ND3 | c.105C= (p.Thr35=) | |
| MT | m.10163C>G | CA913162178 | MT-ND3 | c.105C>G (p.Thr35=) | |
| MT | m.10163C>T | CA913162179 | MT-ND3 | c.105C>T (p.Thr35=) | dbSNP |
| MT | m.10164C>A | CA414804410 | MT-ND3 | c.106C>A (p.Pro36Thr) | |
| MT | m.10164C= | CA2573325212 | MT-ND3 | c.106C= (p.Pro36=) | |
| MT | m.10164C>G | CA414804411 | MT-ND3 | c.106C>G (p.Pro36Ala) | |
| MT | m.10164C>T | CA414804412 | MT-ND3 | c.106C>T (p.Pro36Ser) | |
| MT | m.10165C>A | CA414804413 | MT-ND3 | c.107C>A (p.Pro36His) | |
| MT | m.10165C= | CA2513134606 | MT-ND3 | c.107C= (p.Pro36=) | |
| MT | m.10165C>G | CA414804414 | MT-ND3 | c.107C>G (p.Pro36Arg) | |
| MT | m.10165C>T | CA414804415 | MT-ND3 | c.107C>T (p.Pro36Leu) | |
| MT | m.10166T>A | CA913162187 | MT-ND3 | c.108T>A (p.Pro36=) | |
| MT | m.10166T>C | CA913162188 | MT-ND3 | c.108T>C (p.Pro36=) | dbSNP |
| MT | m.10166T>G | CA913162189 | MT-ND3 | c.108T>G (p.Pro36=) | |
| MT | m.10166T= | CA2499566633 | MT-ND3 | c.108T= (p.Pro36=) | |
| MT | m.10167T>A | CA414804416 | MT-ND3 | c.109T>A (p.Tyr37Asn) | |
| MT | m.10167T>C | CA414804417 | MT-ND3 | c.109T>C (p.Tyr37His) | |
| MT | m.10167T>G | CA414804418 | MT-ND3 | c.109T>G (p.Tyr37Asp) | |
| MT | m.10167T= | CA2573325218 | MT-ND3 | c.109T= (p.Tyr37=) | |
| MT | m.10168A= | CA2573325220 | MT-ND3 | c.110A= (p.Tyr37=) | |
| MT | m.10168A>C | CA414804419 | MT-ND3 | c.110A>C (p.Tyr37Ser) | |
| MT | m.10168A>G | CA414804420 | MT-ND3 | c.110A>G (p.Tyr37Cys) | |
| MT | m.10168A>T | CA414804421 | MT-ND3 | c.110A>T (p.Tyr37Phe) | |
| MT | m.10169C>A | CA414804422 | MT-ND3 | c.111C>A (p.Tyr37Ter) | |
| MT | m.10169C= | CA2573325224 | MT-ND3 | c.111C= (p.Tyr37=) | |
| MT | m.10169C>G | CA414804423 | MT-ND3 | c.111C>G (p.Tyr37Ter) | |
| MT | m.10169C>T | CA913162194 | MT-ND3 | c.111C>T (p.Tyr37=) | |
| MT | m.10170G>A | CA414804424 | MT-ND3 | c.112G>A (p.Glu38Lys) | dbSNP |
| MT | m.10170G>C | CA414804425 | MT-ND3 | c.112G>C (p.Glu38Gln) | |
| MT | m.10170G= | CA2573325240 | MT-ND3 | c.112G= (p.Glu38=) | |
| MT | m.10170G>T | CA414804426 | MT-ND3 | c.112G>T (p.Glu38Ter) | |
| MT | m.10171A= | CA2513303735 | MT-ND3 | c.113A= (p.Glu38=) | |
| MT | m.10171A>C | CA414804427 | MT-ND3 | c.113A>C (p.Glu38Ala) | |
| MT | m.10171A>G | CA414804428 | MT-ND3 | c.113A>G (p.Glu38Gly) | |
| MT | m.10171A>T | CA414804429 | MT-ND3 | c.113A>T (p.Glu38Val) | |
| MT | m.10172G>A | CA337098731 | MT-ND3 | c.114G>A (p.Glu38=) | ClinVar dbSNP |
| MT | m.10172G>C | CA414804430 | MT-ND3 | c.114G>C (p.Glu38Asp) | |
| MT | m.10172G= | CA2499566634 | MT-ND3 | c.114G= (p.Glu38=) | |
| MT | m.10172G>T | CA414804431 | MT-ND3 | c.114G>T (p.Glu38Asp) | |
| MT | m.10173T>A | CA414804434 | MT-ND3 | c.115T>A (p.Cys39Ser) | |
| MT | m.10173T>C | CA414804433 | MT-ND3 | c.115T>C (p.Cys39Arg) | |
| MT | m.10173T>G | CA414804432 | MT-ND3 | c.115T>G (p.Cys39Gly) | |
| MT | m.10173T= | CA2573325251 | MT-ND3 | c.115T= (p.Cys39=) | |
| MT | m.10174G>A | CA414804435 | MT-ND3 | c.116G>A (p.Cys39Tyr) | dbSNP |
| MT | m.10174G>C | CA414804436 | MT-ND3 | c.116G>C (p.Cys39Ser) | |
| MT | m.10174G= | CA2573325253 | MT-ND3 | c.116G= (p.Cys39=) | |
| MT | m.10174G>T | CA414804437 | MT-ND3 | c.116G>T (p.Cys39Phe) | |
| MT | m.10175C>A | CA414804438 | MT-ND3 | c.117C>A (p.Cys39Ter) | |
| MT | m.10175C= | CA2499566635 | MT-ND3 | c.117C= (p.Cys39=) | |
| MT | m.10175C>G | CA414804439 | MT-ND3 | c.117C>G (p.Cys39Trp) | |
| MT | m.10175C>T | CA913162213 | MT-ND3 | c.117C>T (p.Cys39=) | dbSNP |
| MT | m.10176G>A | CA414804440 | MT-ND3 | c.118G>A (p.Gly40Ser) | dbSNP |
| MT | m.10176G>C | CA414804441 | MT-ND3 | c.118G>C (p.Gly40Arg) | |
| MT | m.10176G= | CA2499566636 | MT-ND3 | c.118G= (p.Gly40=) | |
| MT | m.10176G>T | CA414804442 | MT-ND3 | c.118G>T (p.Gly40Cys) | |
| MT | m.10177G>A | CA414804443 | MT-ND3 | c.119G>A (p.Gly40Asp) | dbSNP |
| MT | m.10177G>C | CA414804444 | MT-ND3 | c.119G>C (p.Gly40Ala) | |
| MT | m.10177G= | CA2573325260 | MT-ND3 | c.119G= (p.Gly40=) | |
| MT | m.10177G>T | CA414804445 | MT-ND3 | c.119G>T (p.Gly40Val) | |
| MT | m.10178C>A | CA913162221 | MT-ND3 | c.120C>A (p.Gly40=) | |
| MT | m.10178C= | CA2573325262 | MT-ND3 | c.120C= (p.Gly40=) | |
| MT | m.10178C>G | CA913162224 | MT-ND3 | c.120C>G (p.Gly40=) | |
| MT | m.10178C>T | CA913162223 | MT-ND3 | c.120C>T (p.Gly40=) | |
| MT | m.10179T>A | CA414804448 | MT-ND3 | c.121T>A (p.Phe41Ile) | |
| MT | m.10179T>C | CA414804446 | MT-ND3 | c.121T>C (p.Phe41Leu) | |
| MT | m.10179T>G | CA414804447 | MT-ND3 | c.121T>G (p.Phe41Val) | |
| MT | m.10179T= | CA2573325266 | MT-ND3 | c.121T= (p.Phe41=) | |
| MT | m.10180T>A | CA414804449 | MT-ND3 | c.122T>A (p.Phe41Tyr) | |
| MT | m.10180T>C | CA414804450 | MT-ND3 | c.122T>C (p.Phe41Ser) | |
| MT | m.10180T>G | CA414804451 | MT-ND3 | c.122T>G (p.Phe41Cys) | |
| MT | m.10180T= | CA2513207267 | MT-ND3 | c.122T= (p.Phe41=) | |
| MT | m.10181C>A | CA414804452 | MT-ND3 | c.123C>A (p.Phe41Leu) | |
| MT | m.10181C= | CA2499566637 | MT-ND3 | c.123C= (p.Phe41=) | |
| MT | m.10181C>G | CA414804453 | MT-ND3 | c.123C>G (p.Phe41Leu) | |
| MT | m.10181C>T | CA913162239 | MT-ND3 | c.123C>T (p.Phe41=) | dbSNP |
| MT | m.10182G>A | CA414804454 | MT-ND3 | c.124G>A (p.Asp42Asn) | dbSNP |
| MT | m.10182G>C | CA414804455 | MT-ND3 | c.124G>C (p.Asp42His) | |
| MT | m.10182G= | CA2573325272 | MT-ND3 | c.124G= (p.Asp42=) | |
| MT | m.10182G>T | CA414804456 | MT-ND3 | c.124G>T (p.Asp42Tyr) | |
| MT | m.10183A= | CA2573325276 | MT-ND3 | c.125A= (p.Asp42=) | |
| MT | m.10183A>C | CA414804457 | MT-ND3 | c.125A>C (p.Asp42Ala) | |
| MT | m.10183A>G | CA414804458 | MT-ND3 | c.125A>G (p.Asp42Gly) | |
| MT | m.10183A>T | CA414804459 | MT-ND3 | c.125A>T (p.Asp42Val) | |
| MT | m.10184C>A | CA414804461 | MT-ND3 | c.126C>A (p.Asp42Glu) | |
| MT | m.10184C= | CA2573325279 | MT-ND3 | c.126C= (p.Asp42=) | |
| MT | m.10184C>G | CA414804460 | MT-ND3 | c.126C>G (p.Asp42Glu) | |
| MT | m.10184C>T | CA913162253 | MT-ND3 | c.126C>T (p.Asp42=) | |
| MT | m.10184_10186del | CA2740098324 | MT-ND3 | c.126_128del (p.Pro43del) | |
| MT | m.10185C>A | CA414804462 | MT-ND3 | c.127C>A (p.Pro43Thr) | |
| MT | m.10185C= | CA2573325282 | MT-ND3 | c.127C= (p.Pro43=) | |
| MT | m.10185C>G | CA414804463 | MT-ND3 | c.127C>G (p.Pro43Ala) | |
| MT | m.10185C>T | CA414804464 | MT-ND3 | c.127C>T (p.Pro43Ser) | |
| MT | m.10186C>A | CA414804465 | MT-ND3 | c.128C>A (p.Pro43His) | |
| MT | m.10186C= | CA2573325285 | MT-ND3 | c.128C= (p.Pro43=) | |
| MT | m.10186C>G | CA414804466 | MT-ND3 | c.128C>G (p.Pro43Arg) | |
| MT | m.10186C>T | CA414804467 | MT-ND3 | c.128C>T (p.Pro43Leu) | |
| MT | m.10187T>A | CA913162262 | MT-ND3 | c.129T>A (p.Pro43=) | |
| MT | m.10187T>C | CA913162260 | MT-ND3 | c.129T>C (p.Pro43=) | dbSNP |
| MT | m.10187T>G | CA913162258 | MT-ND3 | c.129T>G (p.Pro43=) | |
| MT | m.10187T= | CA2499566638 | MT-ND3 | c.129T= (p.Pro43=) | |
| MT | m.10188A= | CA2499566639 | MT-ND3 | c.130A= (p.Ile44=) | |
| MT | m.10188A>C | CA414804468 | MT-ND3 | c.130A>C (p.Ile44Leu) | |
| MT | m.10188A>G | CA414804469 | MT-ND3 | c.130A>G (p.Ile44Val) | ClinVar dbSNP |
| MT | m.10188A>T | CA414804470 | MT-ND3 | c.130A>T (p.Ile44Leu) | |
| MT | m.10189T>A | CA414804471 | MT-ND3 | c.131T>A (p.Ile44Lys) | |
| MT | m.10189T>C | CA414804472 | MT-ND3 | c.131T>C (p.Ile44Thr) | |
| MT | m.10189T>G | CA414804473 | MT-ND3 | c.131T>G (p.Ile44Arg) | |
| MT | m.10189T= | CA2573325294 | MT-ND3 | c.131T= (p.Ile44=) | |
| MT | m.10190A= | CA2499566640 | MT-ND3 | c.132A= (p.Ile44=) | |
| MT | m.10190A>C | CA913162268 | MT-ND3 | c.132A>C (p.Ile44=) | |
| MT | m.10190A>G | CA414804474 | MT-ND3 | c.132A>G (p.Ile44Met) | dbSNP |
| MT | m.10190A>T | CA913162269 | MT-ND3 | c.132A>T (p.Ile44=) | |
| MT | m.10190_10191insGGG | CA2740098325 | MT-ND3 | c.132_133insGGG (p.Ile44_Ser45insGly) | |
| MT | m.10191T>A | CA414804476 | MT-ND3 | c.133T>A (p.Ser45Thr) | |
| MT | m.10191T>C | CA120637 | MT-ND3 | c.133T>C (p.Ser45Pro) | ClinVar dbSNP |
| MT | m.10191T>G | CA414804475 | MT-ND3 | c.133T>G (p.Ser45Ala) | |
| MT | m.10191T= | CA2499566641 | MT-ND3 | c.133T= (p.Ser45=) | |
| MT | m.10192C>A | CA414804477 | MT-ND3 | c.134C>A (p.Ser45Tyr) | ClinVar dbSNP |
| MT | m.10192C= | CA2499566642 | MT-ND3 | c.134C= (p.Ser45=) | |
| MT | m.10192C>G | CA414804478 | MT-ND3 | c.134C>G (p.Ser45Cys) | |
| MT | m.10192C>T | CA414804479 | MT-ND3 | c.134C>T (p.Ser45Phe) | ClinVar dbSNP |
| MT | m.10196_10197insCCCCCCCCCC | CA2573105056 | MT-ND3 | c.138_139insCCCCCCCCCC (p.Ala47ProfsTer23) | |
| MT | m.10196dup | CA2573105055 | MT-ND3 | c.138dup (p.Ala47ArgfsTer20) | |
| MT | m.10196del | CA2573105057 | MT-ND3 | c.138del (p.Ala47ProfsTer7) | |
| MT | m.10195_10196del | CA2740098326 | MT-ND3 | c.137_138del (p.Pro46ArgfsTer20) | |
| MT | m.10193C>A | CA913162299 | MT-ND3 | c.135C>A (p.Ser45=) | |
| MT | m.10193C= | CA2573325311 | MT-ND3 | c.135C= (p.Ser45=) | |
| MT | m.10193C>G | CA913162297 | MT-ND3 | c.135C>G (p.Ser45=) | |
| MT | m.10193C>T | CA913162298 | MT-ND3 | c.135C>T (p.Ser45=) | |
| MT | m.10194C>A | CA414804480 | MT-ND3 | c.136C>A (p.Pro46Thr) | |
| MT | m.10194C= | CA2573325313 | MT-ND3 | c.136C= (p.Pro46=) | |
| MT | m.10194C>G | CA414804481 | MT-ND3 | c.136C>G (p.Pro46Ala) | |
| MT | m.10194C>T | CA414804482 | MT-ND3 | c.136C>T (p.Pro46Ser) | |
| MT | m.10194_10195insGAAG | CA2740098327 | MT-ND3 | c.136_137insGAAG (p.Pro46ArgfsTer22) | |
| MT | m.10195C>A | CA414804483 | MT-ND3 | c.137C>A (p.Pro46His) | |
| MT | m.10195C= | CA2573325318 | MT-ND3 | c.137C= (p.Pro46=) | |
| MT | m.10195C>G | CA414804484 | MT-ND3 | c.137C>G (p.Pro46Arg) | |
| MT | m.10195C>T | CA414804485 | MT-ND3 | c.137C>T (p.Pro46Leu) | |
| MT | m.10196C>A | CA913162309 | MT-ND3 | c.138C>A (p.Pro46=) | |
| MT | m.10196C= | CA2499566643 | MT-ND3 | c.138C= (p.Pro46=) | |
| MT | m.10196C>G | CA913162307 | MT-ND3 | c.138C>G (p.Pro46=) | |
| MT | m.10196C>T | CA913162308 | MT-ND3 | c.138C>T (p.Pro46=) | dbSNP |
| MT | m.10197G>A | CA120640 | MT-ND3 | c.139G>A (p.Ala47Thr) | ClinVar dbSNP |
| MT | m.10197G>C | CA414804486 | MT-ND3 | c.139G>C (p.Ala47Pro) | |
| MT | m.10197G= | CA2499566644 | MT-ND3 | c.139G= (p.Ala47=) | |
| MT | m.10197G>T | CA414804487 | MT-ND3 | c.139G>T (p.Ala47Ser) | |
| MT | m.10198C>A | CA414804488 | MT-ND3 | c.140C>A (p.Ala47Asp) | |
| MT | m.10198C= | CA2573325326 | MT-ND3 | c.140C= (p.Ala47=) | |
| MT | m.10198C>G | CA414804490 | MT-ND3 | c.140C>G (p.Ala47Gly) | |
| MT | m.10198C>T | CA414804489 | MT-ND3 | c.140C>T (p.Ala47Val) | |
| MT | m.10199C>A | CA913162315 | MT-ND3 | c.141C>A (p.Ala47=) | |
| MT | m.10199C= | CA2499566645 | MT-ND3 | c.141C= (p.Ala47=) | |
| MT | m.10199C>G | CA913162316 | MT-ND3 | c.141C>G (p.Ala47=) | |
| MT | m.10199C>T | CA913162317 | MT-ND3 | c.141C>T (p.Ala47=) | dbSNP |
| MT | m.10200C>A | CA414804491 | MT-ND3 | c.142C>A (p.Arg48Ser) | |
| MT | m.10200C= | CA2573325332 | MT-ND3 | c.142C= (p.Arg48=) | |
| MT | m.10200C>G | CA414804492 | MT-ND3 | c.142C>G (p.Arg48Gly) | |
| MT | m.10200C>T | CA414804493 | MT-ND3 | c.142C>T (p.Arg48Cys) | |
| MT | m.10201G>A | CA414804494 | MT-ND3 | c.143G>A (p.Arg48His) | |
| MT | m.10201G>C | CA414804495 | MT-ND3 | c.143G>C (p.Arg48Pro) | |
| MT | m.10201G= | CA2573325336 | MT-ND3 | c.143G= (p.Arg48=) | |
| MT | m.10201G>T | CA414804496 | MT-ND3 | c.143G>T (p.Arg48Leu) | |
| MT | m.10202C>A | CA337098742 | MT-ND3 | c.144C>A (p.Arg48=) | |
| MT | m.10202C= | CA2499566646 | MT-ND3 | c.144C= (p.Arg48=) | |
| MT | m.10202C>G | CA337098744 | MT-ND3 | c.144C>G (p.Arg48=) | |
| MT | m.10202C>T | CA913162324 | MT-ND3 | c.144C>T (p.Arg48=) | dbSNP |
| MT | m.10203G>A | CA414804497 | MT-ND3 | c.145G>A (p.Val49Ile) | ClinVar dbSNP |
| MT | m.10203G>C | CA414804498 | MT-ND3 | c.145G>C (p.Val49Leu) | |
| MT | m.10203G= | CA2499566647 | MT-ND3 | c.145G= (p.Val49=) | |
| MT | m.10203G>T | CA414804499 | MT-ND3 | c.145G>T (p.Val49Phe) | |
| MT | m.10204T>A | CA414804502 | MT-ND3 | c.146T>A (p.Val49Asp) | |
| MT | m.10204T>C | CA414804501 | MT-ND3 | c.146T>C (p.Val49Ala) | |
| MT | m.10204T>G | CA414804500 | MT-ND3 | c.146T>G (p.Val49Gly) | |
| MT | m.10204T= | CA2573325344 | MT-ND3 | c.146T= (p.Val49=) | |
| MT | m.10205C>A | CA913162339 | MT-ND3 | c.147C>A (p.Val49=) | dbSNP |
| MT | m.10205C= | CA2499566648 | MT-ND3 | c.147C= (p.Val49=) | |
| MT | m.10205C>G | CA913162340 | MT-ND3 | c.147C>G (p.Val49=) | |
| MT | m.10205C>T | CA913162341 | MT-ND3 | c.147C>T (p.Val49=) | dbSNP |
| MT | m.10205_10207del | CA2740098328 | MT-ND3 | c.147_149del (p.Pro50del) | |
| MT | m.10206C>A | CA414804503 | MT-ND3 | c.148C>A (p.Pro50Thr) | |
| MT | m.10206C= | CA2573325348 | MT-ND3 | c.148C= (p.Pro50=) | |
| MT | m.10206C>G | CA414804504 | MT-ND3 | c.148C>G (p.Pro50Ala) | |
| MT | m.10206C>T | CA414804505 | MT-ND3 | c.148C>T (p.Pro50Ser) | |
| MT | m.10207C>A | CA414804506 | MT-ND3 | c.149C>A (p.Pro50His) | |
| MT | m.10207C= | CA2513202206 | MT-ND3 | c.149C= (p.Pro50=) | |
| MT | m.10207C>G | CA414804507 | MT-ND3 | c.149C>G (p.Pro50Arg) | |
| MT | m.10207C>T | CA414804508 | MT-ND3 | c.149C>T (p.Pro50Leu) | |
| MT | m.10208T>A | CA913162346 | MT-ND3 | c.150T>A (p.Pro50=) | dbSNP |
| MT | m.10208T>C | CA913162345 | MT-ND3 | c.150T>C (p.Pro50=) | dbSNP |
| MT | m.10208T>G | CA913162344 | MT-ND3 | c.150T>G (p.Pro50=) | |
| MT | m.10208T= | CA2499566649 | MT-ND3 | c.150T= (p.Pro50=) | |
| MT | m.10209T>A | CA414804509 | MT-ND3 | c.151T>A (p.Phe51Ile) | |
| MT | m.10209T>C | CA414804510 | MT-ND3 | c.151T>C (p.Phe51Leu) | dbSNP |
| MT | m.10209T>G | CA414804511 | MT-ND3 | c.151T>G (p.Phe51Val) | |
| MT | m.10209T= | CA2499566650 | MT-ND3 | c.151T= (p.Phe51=) | |
| MT | m.10210T>A | CA414804512 | MT-ND3 | c.152T>A (p.Phe51Tyr) | |
| MT | m.10210T>C | CA414804513 | MT-ND3 | c.152T>C (p.Phe51Ser) | |
| MT | m.10210T>G | CA414804514 | MT-ND3 | c.152T>G (p.Phe51Cys) | |
| MT | m.10210T= | CA2513612057 | MT-ND3 | c.152T= (p.Phe51=) |