Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.201085522_201085530dup | CA2052327 | NDUFB3 | c.204_212dup (p.Phe71_Lys72insLysGlyPhe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085526G>A | CA350270231 | NDUFB3 | c.208G>A (p.Gly70Arg) | |
2 | g.201085526G>C | CA350270229 | NDUFB3 | c.208G>C (p.Gly70Arg) | |
2 | g.201085526G= | CA1320913977 | NDUFB3 | c.208G= (p.Gly70=) | |
2 | g.201085526G>T | CA130617 | NDUFB3 | c.208G>T (p.Gly70Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085527G>A | CA350270234 | NDUFB3 | c.209G>A (p.Gly70Glu) | |
2 | g.201085527G>C | CA350270238 | NDUFB3 | c.209G>C (p.Gly70Ala) | |
2 | g.201085527G>T | CA350270236 | NDUFB3 | c.209G>T (p.Gly70Val) | |
2 | g.201085528A>C | CA430609329 | NDUFB3 | c.210A>C (p.Gly70=) | |
2 | g.201085528A>G | CA430609331 | NDUFB3 | c.210A>G (p.Gly70=) | |
2 | g.201085528A>T | CA430609330 | NDUFB3 | c.210A>T (p.Gly70=) | |
2 | g.201085529T>A | CA350270241 | NDUFB3 | c.211T>A (p.Phe71Ile) | |
2 | g.201085529T>C | CA350270245 | NDUFB3 | c.211T>C (p.Phe71Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085529T>G | CA350270243 | NDUFB3 | c.211T>G (p.Phe71Val) | |
2 | g.201085529T= | CA1320913978 | NDUFB3 | c.211T= (p.Phe71=) | |
2 | g.201085530T>A | CA350270250 | NDUFB3 | c.212T>A (p.Phe71Tyr) | |
2 | g.201085530T>C | CA350270254 | NDUFB3 | c.212T>C (p.Phe71Ser) | |
2 | g.201085530T>G | CA2052328 | NDUFB3 | c.212T>G (p.Phe71Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085530T= | CA1320913979 | NDUFB3 | c.212T= (p.Phe71=) | |
2 | g.201085531C>A | CA350270255 | NDUFB3 | c.213C>A (p.Phe71Leu) | |
2 | g.201085531C= | CA1320913980 | NDUFB3 | c.213C= (p.Phe71=) | |
2 | g.201085531C>G | CA350270258 | NDUFB3 | c.213C>G (p.Phe71Leu) | |
2 | g.201085531C>T | CA430609332 | NDUFB3 | c.213C>T (p.Phe71=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085532A>C | CA350270260 | NDUFB3 | c.214A>C (p.Lys72Gln) | |
2 | g.201085532A>G | CA350270263 | NDUFB3 | c.214A>G (p.Lys72Glu) | gnomAD v4 |
2 | g.201085532A>T | CA350270265 | NDUFB3 | c.214A>T (p.Lys72Ter) | |
2 | g.201085533A= | CA1320913981 | NDUFB3 | c.215A= (p.Lys72=) | |
2 | g.201085533A>C | CA350270268 | NDUFB3 | c.215A>C (p.Lys72Thr) | gnomAD v4 |
2 | g.201085533A>G | CA2052329 | NDUFB3 | c.215A>G (p.Lys72Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085533A>T | CA350270271 | NDUFB3 | c.215A>T (p.Lys72Ile) | |
2 | g.201085534A= | CA1320913982 | NDUFB3 | c.216A= (p.Lys72=) | |
2 | g.201085534A>C | CA350270274 | NDUFB3 | c.216A>C (p.Lys72Asn) | |
2 | g.201085534A>G | CA430609333 | NDUFB3 | c.216A>G (p.Lys72=) | |
2 | g.201085534A>T | CA350270276 | NDUFB3 | c.216A>T (p.Lys72Asn) | dbSNP gnomAD v4 |
2 | g.201085535T>A | CA350270279 | NDUFB3 | c.217T>A (p.Trp73Arg) | |
2 | g.201085535T>C | CA350270281 | NDUFB3 | c.217T>C (p.Trp73Arg) | gnomAD v4 |
2 | g.201085535T>G | CA350270283 | NDUFB3 | c.217T>G (p.Trp73Gly) | |
2 | g.201085536G>A | CA350270285 | NDUFB3 | c.218G>A (p.Trp73Ter) | |
2 | g.201085536G>C | CA350270288 | NDUFB3 | c.218G>C (p.Trp73Ser) | gnomAD v4 |
2 | g.201085536G= | CA1320913983 | NDUFB3 | c.218G= (p.Trp73=) | |
2 | g.201085536G>T | CA2052330 | NDUFB3 | c.218G>T (p.Trp73Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085537G>A | CA350270290 | NDUFB3 | c.219G>A (p.Trp73Ter) | |
2 | g.201085537G>C | CA350270292 | NDUFB3 | c.219G>C (p.Trp73Cys) | |
2 | g.201085537G>T | CA350270294 | NDUFB3 | c.219G>T (p.Trp73Cys) | |
2 | g.201085538G>A | CA350270297 | NDUFB3 | c.220G>A (p.Gly74Arg) | |
2 | g.201085538G>C | CA350270303 | NDUFB3 | c.220G>C (p.Gly74Arg) | |
2 | g.201085538G= | CA1320913984 | NDUFB3 | c.220G= (p.Gly74=) | |
2 | g.201085538G>T | CA350270309 | NDUFB3 | c.220G>T (p.Gly74Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085539G>A | CA350270311 | NDUFB3 | c.221G>A (p.Gly74Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085539G>C | CA350270312 | NDUFB3 | c.221G>C (p.Gly74Ala) | |
2 | g.201085539G= | CA1320913985 | NDUFB3 | c.221G= (p.Gly74=) | |
2 | g.201085539G>T | CA350270313 | NDUFB3 | c.221G>T (p.Gly74Val) | |
2 | g.201085540A>C | CA430609336 | NDUFB3 | c.222A>C (p.Gly74=) | |
2 | g.201085540A>G | CA430609338 | NDUFB3 | c.222A>G (p.Gly74=) | |
2 | g.201085540A>T | CA430609337 | NDUFB3 | c.222A>T (p.Gly74=) | |
2 | g.201085541T>A | CA350270320 | NDUFB3 | c.223T>A (p.Phe75Ile) | |
2 | g.201085541T>C | CA350270319 | NDUFB3 | c.223T>C (p.Phe75Leu) | |
2 | g.201085541T>G | CA350270317 | NDUFB3 | c.223T>G (p.Phe75Val) | gnomAD v4 |
2 | g.201085542T>A | CA350270322 | NDUFB3 | c.224T>A (p.Phe75Tyr) | |
2 | g.201085542T>C | CA350270324 | NDUFB3 | c.224T>C (p.Phe75Ser) | |
2 | g.201085542T>G | CA350270328 | NDUFB3 | c.224T>G (p.Phe75Cys) | |
2 | g.201085543T>A | CA350270333 | NDUFB3 | c.225T>A (p.Phe75Leu) | |
2 | g.201085543T>C | CA430609341 | NDUFB3 | c.225T>C (p.Phe75=) | |
2 | g.201085543T>G | CA350270335 | NDUFB3 | c.225T>G (p.Phe75Leu) | gnomAD v4 |
2 | g.201085544G>A | CA2052331 | NDUFB3 | c.226G>A (p.Ala76Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085544G>C | CA350270349 | NDUFB3 | c.226G>C (p.Ala76Pro) | gnomAD v4 |
2 | g.201085544G= | CA1320913986 | NDUFB3 | c.226G= (p.Ala76=) | |
2 | g.201085544G>T | CA350270354 | NDUFB3 | c.226G>T (p.Ala76Ser) | |
2 | g.201085545C>A | CA350270359 | NDUFB3 | c.227C>A (p.Ala76Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085545C= | CA1320913987 | NDUFB3 | c.227C= (p.Ala76=) | |
2 | g.201085545C>G | CA350270361 | NDUFB3 | c.227C>G (p.Ala76Gly) | |
2 | g.201085545C>T | CA350270362 | NDUFB3 | c.227C>T (p.Ala76Val) | |
2 | g.201085546T>A | CA430609344 | NDUFB3 | c.228T>A (p.Ala76=) | |
2 | g.201085546T>C | CA430609345 | NDUFB3 | c.228T>C (p.Ala76=) | |
2 | g.201085546T>G | CA430609347 | NDUFB3 | c.228T>G (p.Ala76=) | |
2 | g.201085547G>A | CA350270378 | NDUFB3 | c.229G>A (p.Ala77Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.201085547G>C | CA350270375 | NDUFB3 | c.229G>C (p.Ala77Pro) | |
2 | g.201085547G= | CA1320913988 | NDUFB3 | c.229G= (p.Ala77=) | |
2 | g.201085547G>T | CA350270366 | NDUFB3 | c.229G>T (p.Ala77Ser) | |
2 | g.201085548C>A | CA350270385 | NDUFB3 | c.230C>A (p.Ala77Glu) | |
2 | g.201085548C>G | CA350270390 | NDUFB3 | c.230C>G (p.Ala77Gly) | |
2 | g.201085548C>T | CA350270391 | NDUFB3 | c.230C>T (p.Ala77Val) | |
2 | g.201085549A= | CA1320913989 | NDUFB3 | c.231A= (p.Ala77=) | |
2 | g.201085549A>C | CA2052332 | NDUFB3 | c.231A>C (p.Ala77=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085549A>G | CA430609349 | NDUFB3 | c.231A>G (p.Ala77=) | |
2 | g.201085549A>T | CA430609348 | NDUFB3 | c.231A>T (p.Ala77=) | dbSNP |
2 | g.201085550T>A | CA350270392 | NDUFB3 | c.232T>A (p.Phe78Ile) | |
2 | g.201085550T>C | CA350270393 | NDUFB3 | c.232T>C (p.Phe78Leu) | |
2 | g.201085550T>G | CA350270396 | NDUFB3 | c.232T>G (p.Phe78Val) | |
2 | g.201085551T>A | CA350270400 | NDUFB3 | c.233T>A (p.Phe78Tyr) | |
2 | g.201085551T>C | CA350270403 | NDUFB3 | c.233T>C (p.Phe78Ser) | |
2 | g.201085551T>G | CA350270407 | NDUFB3 | c.233T>G (p.Phe78Cys) | |
2 | g.201085552T>A | CA350270410 | NDUFB3 | c.234T>A (p.Phe78Leu) | |
2 | g.201085552T>C | CA430609351 | NDUFB3 | c.234T>C (p.Phe78=) | |
2 | g.201085552T>G | CA350270412 | NDUFB3 | c.234T>G (p.Phe78Leu) | |
2 | g.201085553G>A | CA63869148 | NDUFB3 | c.235G>A (p.Val79Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085553G>C | CA2052333 | NDUFB3 | c.235G>C (p.Val79Leu) | dbSNP ExAC gnomAD v2 |
2 | g.201085553G= | CA1320913990 | NDUFB3 | c.235G= (p.Val79=) | |
2 | g.201085553G>T | CA350270414 | NDUFB3 | c.235G>T (p.Val79Leu) | gnomAD v4 |
2 | g.201085554T>A | CA350270420 | NDUFB3 | c.236T>A (p.Val79Glu) | |
2 | g.201085554T>C | CA350270425 | NDUFB3 | c.236T>C (p.Val79Ala) | |
2 | g.201085554T>G | CA350270423 | NDUFB3 | c.236T>G (p.Val79Gly) | |
2 | g.201085555G>A | CA430609353 | NDUFB3 | c.237G>A (p.Val79=) | |
2 | g.201085555G>C | CA430609354 | NDUFB3 | c.237G>C (p.Val79=) | |
2 | g.201085555G>T | CA430609355 | NDUFB3 | c.237G>T (p.Val79=) | |
2 | g.201085556G>A | CA350270428 | NDUFB3 | c.238G>A (p.Val80Ile) | |
2 | g.201085556G>C | CA350270430 | NDUFB3 | c.238G>C (p.Val80Leu) | |
2 | g.201085556G>T | CA350270432 | NDUFB3 | c.238G>T (p.Val80Leu) | |
2 | g.201085557T>A | CA350270433 | NDUFB3 | c.239T>A (p.Val80Glu) | |
2 | g.201085557T>C | CA350270435 | NDUFB3 | c.239T>C (p.Val80Ala) | |
2 | g.201085557T>G | CA350270437 | NDUFB3 | c.239T>G (p.Val80Gly) | COSMIC |
2 | g.201085558A= | CA1320913991 | NDUFB3 | c.240A= (p.Val80=) | |
2 | g.201085558A>C | CA430609356 | NDUFB3 | c.240A>C (p.Val80=) | |
2 | g.201085558A>G | CA430609357 | NDUFB3 | c.240A>G (p.Val80=) | |
2 | g.201085558A>T | CA2052334 | NDUFB3 | c.240A>T (p.Val80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085559G>A | CA350270449 | NDUFB3 | c.241G>A (p.Ala81Thr) | |
2 | g.201085559G>C | CA350270450 | NDUFB3 | c.241G>C (p.Ala81Pro) | |
2 | g.201085559G>T | CA350270451 | NDUFB3 | c.241G>T (p.Ala81Ser) | |
2 | g.201085560C>A | CA350270462 | NDUFB3 | c.242C>A (p.Ala81Asp) | |
2 | g.201085560C= | CA1320913992 | NDUFB3 | c.242C= (p.Ala81=) | |
2 | g.201085560C>G | CA63869168 | NDUFB3 | c.242C>G (p.Ala81Gly) | dbSNP |
2 | g.201085560C>T | CA350270453 | NDUFB3 | c.242C>T (p.Ala81Val) | gnomAD v4 |
2 | g.201085561T>A | CA430609361 | NDUFB3 | c.243T>A (p.Ala81=) | |
2 | g.201085561T>C | CA430609362 | NDUFB3 | c.243T>C (p.Ala81=) | gnomAD v4 |
2 | g.201085561T>G | CA430609363 | NDUFB3 | c.243T>G (p.Ala81=) | |
2 | g.201085562G>A | CA2052335 | NDUFB3 | c.244G>A (p.Val82Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085562G>C | CA350270467 | NDUFB3 | c.244G>C (p.Val82Leu) | |
2 | g.201085562G= | CA1320913993 | NDUFB3 | c.244G= (p.Val82=) | |
2 | g.201085562G>T | CA350270470 | NDUFB3 | c.244G>T (p.Val82Leu) | |
2 | g.201085563T>A | CA350270475 | NDUFB3 | c.245T>A (p.Val82Glu) | |
2 | g.201085563T>C | CA350270476 | NDUFB3 | c.245T>C (p.Val82Ala) | |
2 | g.201085563T>G | CA350270478 | NDUFB3 | c.245T>G (p.Val82Gly) | |
2 | g.201085564A>C | CA430609366 | NDUFB3 | c.246A>C (p.Val82=) | |
2 | g.201085564A>G | CA430609365 | NDUFB3 | c.246A>G (p.Val82=) | COSMIC |
2 | g.201085564A>T | CA430609364 | NDUFB3 | c.246A>T (p.Val82=) | |
2 | g.201085565G>A | CA350270483 | NDUFB3 | c.247G>A (p.Gly83Arg) | gnomAD v4 |
2 | g.201085565G>C | CA350270485 | NDUFB3 | c.247G>C (p.Gly83Arg) | |
2 | g.201085565G>T | CA350270487 | NDUFB3 | c.247G>T (p.Gly83Ter) | |
2 | g.201085566G>A | CA350270493 | NDUFB3 | c.248G>A (p.Gly83Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085566G>C | CA350270496 | NDUFB3 | c.248G>C (p.Gly83Ala) | |
2 | g.201085566G= | CA1320913994 | NDUFB3 | c.248G= (p.Gly83=) | |
2 | g.201085566G>T | CA350270499 | NDUFB3 | c.248G>T (p.Gly83Val) | |
2 | g.201085567A>C | CA430609368 | NDUFB3 | c.249A>C (p.Gly83=) | |
2 | g.201085567A>G | CA430609369 | NDUFB3 | c.249A>G (p.Gly83=) | |
2 | g.201085567A>T | CA430609370 | NDUFB3 | c.249A>T (p.Gly83=) | |
2 | g.201085568G>A | CA350270509 | NDUFB3 | c.250G>A (p.Ala84Thr) | |
2 | g.201085568G>C | CA350270520 | NDUFB3 | c.250G>C (p.Ala84Pro) | |
2 | g.201085568G>T | CA350270502 | NDUFB3 | c.250G>T (p.Ala84Ser) | COSMIC |
2 | g.201085569C>A | CA350270523 | NDUFB3 | c.251C>A (p.Ala84Asp) | |
2 | g.201085569C>G | CA350270526 | NDUFB3 | c.251C>G (p.Ala84Gly) | |
2 | g.201085569C>T | CA350270530 | NDUFB3 | c.251C>T (p.Ala84Val) | |
2 | g.201085570T>A | CA430609372 | NDUFB3 | c.252T>A (p.Ala84=) | |
2 | g.201085570T>C | CA430609373 | NDUFB3 | c.252T>C (p.Ala84=) | dbSNP gnomAD v4 |
2 | g.201085570T>G | CA430609374 | NDUFB3 | c.252T>G (p.Ala84=) | |
2 | g.201085570T= | CA1320913995 | NDUFB3 | c.252T= (p.Ala84=) | |
2 | g.201085571G>A | CA350270534 | NDUFB3 | c.253G>A (p.Glu85Lys) | gnomAD v4 |
2 | g.201085571G>C | CA350270536 | NDUFB3 | c.253G>C (p.Glu85Gln) | |
2 | g.201085571G>T | CA350270538 | NDUFB3 | c.253G>T (p.Glu85Ter) | |
2 | g.201085572A>C | CA350270542 | NDUFB3 | c.254A>C (p.Glu85Ala) | |
2 | g.201085572A>G | CA350270543 | NDUFB3 | c.254A>G (p.Glu85Gly) | |
2 | g.201085572A>T | CA350270548 | NDUFB3 | c.254A>T (p.Glu85Val) | |
2 | g.201085573A= | CA1320913996 | NDUFB3 | c.255A= (p.Glu85=) | |
2 | g.201085573A>C | CA350270552 | NDUFB3 | c.255A>C (p.Glu85Asp) | |
2 | g.201085573A>G | CA2052336 | NDUFB3 | c.255A>G (p.Glu85=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085573A>T | CA350270557 | NDUFB3 | c.255A>T (p.Glu85Asp) | |
2 | g.201085574T>A | CA350270561 | NDUFB3 | c.256T>A (p.Tyr86Asn) | |
2 | g.201085574T>C | CA350270562 | NDUFB3 | c.256T>C (p.Tyr86His) | |
2 | g.201085574T>G | CA350270560 | NDUFB3 | c.256T>G (p.Tyr86Asp) | |
2 | g.201085575A= | CA1320913997 | NDUFB3 | c.257A= (p.Tyr86=) | |
2 | g.201085575A>C | CA350270563 | NDUFB3 | c.257A>C (p.Tyr86Ser) | |
2 | g.201085575A>G | CA2052337 | NDUFB3 | c.257A>G (p.Tyr86Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085575A>T | CA350270564 | NDUFB3 | c.257A>T (p.Tyr86Phe) | |
2 | g.201085576T>A | CA350270565 | NDUFB3 | c.258T>A (p.Tyr86Ter) | |
2 | g.201085576T>C | CA430609375 | NDUFB3 | c.258T>C (p.Tyr86=) | |
2 | g.201085576T>G | CA350270567 | NDUFB3 | c.258T>G (p.Tyr86Ter) | |
2 | g.201085577T>A | CA350270574 | NDUFB3 | c.259T>A (p.Tyr87Asn) | |
2 | g.201085577T>C | CA350270568 | NDUFB3 | c.259T>C (p.Tyr87His) | |
2 | g.201085577T>G | CA350270571 | NDUFB3 | c.259T>G (p.Tyr87Asp) | |
2 | g.201085578A>C | CA350270577 | NDUFB3 | c.260A>C (p.Tyr87Ser) | |
2 | g.201085578A>G | CA350270581 | NDUFB3 | c.260A>G (p.Tyr87Cys) | gnomAD v4 |
2 | g.201085578A>T | CA350270583 | NDUFB3 | c.260A>T (p.Tyr87Phe) | |
2 | g.201085579C>A | CA350270587 | NDUFB3 | c.261C>A (p.Tyr87Ter) | |
2 | g.201085579C>G | CA350270590 | NDUFB3 | c.261C>G (p.Tyr87Ter) | |
2 | g.201085579C>T | CA430609376 | NDUFB3 | c.261C>T (p.Tyr87=) | gnomAD v4 COSMIC |
2 | g.201085580C>A | CA2052339 | NDUFB3 | c.262C>A (p.Leu88Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085580C= | CA1320913998 | NDUFB3 | c.262C= (p.Leu88=) | |
2 | g.201085580C>G | CA350270595 | NDUFB3 | c.262C>G (p.Leu88Val) | gnomAD v4 |
2 | g.201085580C>T | CA2052338 | NDUFB3 | c.262C>T (p.Leu88=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085581T>A | CA350270605 | NDUFB3 | c.263T>A (p.Leu88Gln) | |
2 | g.201085581T>C | CA350270607 | NDUFB3 | c.263T>C (p.Leu88Pro) | |
2 | g.201085581T>G | CA350270611 | NDUFB3 | c.263T>G (p.Leu88Arg) | |
2 | g.201085582G>A | CA430609378 | NDUFB3 | c.264G>A (p.Leu88=) | dbSNP |
2 | g.201085582G>C | CA430609379 | NDUFB3 | c.264G>C (p.Leu88=) | |
2 | g.201085582G= | CA1320913999 | NDUFB3 | c.264G= (p.Leu88=) | |
2 | g.201085582G>T | CA430609382 | NDUFB3 | c.264G>T (p.Leu88=) | |
2 | g.201085583G>A | CA350270617 | NDUFB3 | c.265G>A (p.Glu89Lys) | |
2 | g.201085583G>C | CA350270620 | NDUFB3 | c.265G>C (p.Glu89Gln) | |
2 | g.201085583G>T | CA350270623 | NDUFB3 | c.265G>T (p.Glu89Ter) | |
2 | g.201085584A>C | CA350270632 | NDUFB3 | c.266A>C (p.Glu89Ala) | gnomAD v4 |
2 | g.201085584A>G | CA350270627 | NDUFB3 | c.266A>G (p.Glu89Gly) | |
2 | g.201085584A>T | CA350270628 | NDUFB3 | c.266A>T (p.Glu89Val) | |
2 | g.201085585G>A | CA430609389 | NDUFB3 | c.267G>A (p.Glu89=) | |
2 | g.201085585G>C | CA350270634 | NDUFB3 | c.267G>C (p.Glu89Asp) | |
2 | g.201085585G>T | CA350270638 | NDUFB3 | c.267G>T (p.Glu89Asp) | |
2 | g.201085586T>A | CA350270641 | NDUFB3 | c.268T>A (p.Ser90Thr) | dbSNP |
2 | g.201085586T>C | CA350270644 | NDUFB3 | c.268T>C (p.Ser90Pro) | gnomAD v4 |
2 | g.201085586T>G | CA350270651 | NDUFB3 | c.268T>G (p.Ser90Ala) | |
2 | g.201085586T= | CA1320914000 | NDUFB3 | c.268T= (p.Ser90=) | |
2 | g.201085587C>A | CA350270663 | NDUFB3 | c.269C>A (p.Ser90Tyr) | |
2 | g.201085587C>G | CA350270655 | NDUFB3 | c.269C>G (p.Ser90Cys) | |
2 | g.201085587C>T | CA350270658 | NDUFB3 | c.269C>T (p.Ser90Phe) | |
2 | g.201085589del | CA2662610482 | NDUFB3 | c.271del (p.Leu91Ter) | gnomAD v4 |
2 | g.201085588C>A | CA430609402 | NDUFB3 | c.270C>A (p.Ser90=) | gnomAD v4 |
2 | g.201085588C>G | CA430609404 | NDUFB3 | c.270C>G (p.Ser90=) | |
2 | g.201085588C>T | CA430609406 | NDUFB3 | c.270C>T (p.Ser90=) | COSMIC |
2 | g.201085589C>A | CA350270669 | NDUFB3 | c.271C>A (p.Leu91Met) | |
2 | g.201085589C>G | CA350270671 | NDUFB3 | c.271C>G (p.Leu91Val) | |
2 | g.201085589C>T | CA430609410 | NDUFB3 | c.271C>T (p.Leu91=) | |
2 | g.201085590T>A | CA350270676 | NDUFB3 | c.272T>A (p.Leu91Gln) | |
2 | g.201085590T>C | CA350270679 | NDUFB3 | c.272T>C (p.Leu91Pro) | gnomAD v4 COSMIC |
2 | g.201085590T>G | CA350270684 | NDUFB3 | c.272T>G (p.Leu91Arg) | |
2 | g.201085591G>A | CA430609418 | NDUFB3 | c.273G>A (p.Leu91=) | |
2 | g.201085591G>C | CA430609423 | NDUFB3 | c.273G>C (p.Leu91=) | |
2 | g.201085591G>T | CA430609421 | NDUFB3 | c.273G>T (p.Leu91=) | |
2 | g.201085592A>C | CA350270697 | NDUFB3 | c.274A>C (p.Asn92His) | |
2 | g.201085592A>G | CA350270699 | NDUFB3 | c.274A>G (p.Asn92Asp) | |
2 | g.201085592A>T | CA350270703 | NDUFB3 | c.274A>T (p.Asn92Tyr) | |
2 | g.201085593A>C | CA350270708 | NDUFB3 | c.275A>C (p.Asn92Thr) | |
2 | g.201085593A>G | CA350270709 | NDUFB3 | c.275A>G (p.Asn92Ser) | |
2 | g.201085593A>T | CA350270710 | NDUFB3 | c.275A>T (p.Asn92Ile) | |
2 | g.201085594T>A | CA350270713 | NDUFB3 | c.276T>A (p.Asn92Lys) | |
2 | g.201085594T>C | CA430609434 | NDUFB3 | c.276T>C (p.Asn92=) | |
2 | g.201085594T>G | CA350270747 | NDUFB3 | c.276T>G (p.Asn92Lys) | |
2 | g.201085595A>C | CA350270762 | NDUFB3 | c.277A>C (p.Lys93Gln) | |
2 | g.201085595A>G | CA350270760 | NDUFB3 | c.277A>G (p.Lys93Glu) | |
2 | g.201085595A>T | CA350270761 | NDUFB3 | c.277A>T (p.Lys93Ter) | |
2 | g.201085597dup | CA2753866835 | NDUFB3 | c.279dup (p.Asp94ArgfsTer2) | |
2 | g.201085596A>C | CA350270766 | NDUFB3 | c.278A>C (p.Lys93Thr) | |
2 | g.201085596A>G | CA350270773 | NDUFB3 | c.278A>G (p.Lys93Arg) | |
2 | g.201085596A>T | CA350270777 | NDUFB3 | c.278A>T (p.Lys93Ile) | |
2 | g.201085597A>C | CA350270782 | NDUFB3 | c.279A>C (p.Lys93Asn) | |
2 | g.201085597A>G | CA430609448 | NDUFB3 | c.279A>G (p.Lys93=) | gnomAD v4 |
2 | g.201085597A>T | CA350270784 | NDUFB3 | c.279A>T (p.Lys93Asn) | |
2 | g.201085598G>A | CA350270789 | NDUFB3 | c.280G>A (p.Asp94Asn) | |
2 | g.201085598G>C | CA350270792 | NDUFB3 | c.280G>C (p.Asp94His) | gnomAD v4 COSMIC |
2 | g.201085598G>T | CA350270793 | NDUFB3 | c.280G>T (p.Asp94Tyr) | |
2 | g.201085599A>C | CA350270794 | NDUFB3 | c.281A>C (p.Asp94Ala) | |
2 | g.201085599A>G | CA350270796 | NDUFB3 | c.281A>G (p.Asp94Gly) | |
2 | g.201085599A>T | CA350270799 | NDUFB3 | c.281A>T (p.Asp94Val) | |
2 | g.201085600T>A | CA350270805 | NDUFB3 | c.282T>A (p.Asp94Glu) | |
2 | g.201085600T>C | CA430609460 | NDUFB3 | c.282T>C (p.Asp94=) | |
2 | g.201085600T>G | CA350270809 | NDUFB3 | c.282T>G (p.Asp94Glu) | |
2 | g.201085600dup | CA2662610484 | NDUFB3 | c.282dup (p.Lys95Ter) | gnomAD v4 |
2 | g.201085601A>C | CA350270815 | NDUFB3 | c.283A>C (p.Lys95Gln) | |
2 | g.201085601A>G | CA350270814 | NDUFB3 | c.283A>G (p.Lys95Glu) | |
2 | g.201085601A>T | CA350270813 | NDUFB3 | c.283A>T (p.Lys95Ter) | |
2 | g.201085604_201085606del | CA2577233935 | NDUFB3 | c.286_288del (p.Lys96del) | |
2 | g.201085602A>C | CA350270819 | NDUFB3 | c.284A>C (p.Lys95Thr) | |
2 | g.201085602A>G | CA350270823 | NDUFB3 | c.284A>G (p.Lys95Arg) | gnomAD v4 |
2 | g.201085602A>T | CA350270825 | NDUFB3 | c.284A>T (p.Lys95Met) | |
2 | g.201085603G>A | CA430609469 | NDUFB3 | c.285G>A (p.Lys95=) | gnomAD v4 |
2 | g.201085603G>C | CA350270831 | NDUFB3 | c.285G>C (p.Lys95Asn) | |
2 | g.201085603G>T | CA350270836 | NDUFB3 | c.285G>T (p.Lys95Asn) | |
2 | g.201085604A>C | CA350270839 | NDUFB3 | c.286A>C (p.Lys96Gln) | |
2 | g.201085604A>G | CA350270843 | NDUFB3 | c.286A>G (p.Lys96Glu) | |
2 | g.201085604A>T | CA350270848 | NDUFB3 | c.286A>T (p.Lys96Ter) | |
2 | g.201085605A= | CA1320914001 | NDUFB3 | c.287A= (p.Lys96=) | |
2 | g.201085605A>C | CA350270853 | NDUFB3 | c.287A>C (p.Lys96Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085605A>G | CA350270855 | NDUFB3 | c.287A>G (p.Lys96Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085605A>T | CA350270859 | NDUFB3 | c.287A>T (p.Lys96Met) | |
2 | g.201085605_201085606insAAAATTATAATCATACACAACGTGTGTGTATATAC | CA916752120 | NDUFB3 | c.287_288insAAAATTATAATCATACACAACGTGTGTGTATATAC (p.His97LysfsTer3) | dbSNP |
2 | g.201085606G>A | CA430609480 | NDUFB3 | c.288G>A (p.Lys96=) | ClinVar dbSNP gnomAD v4 |
2 | g.201085606G>C | CA350270863 | NDUFB3 | c.288G>C (p.Lys96Asn) | |
2 | g.201085606G= | CA1320914002 | NDUFB3 | c.288G= (p.Lys96=) | |
2 | g.201085606G>T | CA350270864 | NDUFB3 | c.288G>T (p.Lys96Asn) | |
2 | g.201085607C>A | CA350270868 | NDUFB3 | c.289C>A (p.His97Asn) | dbSNP |
2 | g.201085607C= | CA1320914003 | NDUFB3 | c.289C= (p.His97=) | |
2 | g.201085607C>G | CA350270870 | NDUFB3 | c.289C>G (p.His97Asp) | |
2 | g.201085607C>T | CA350270865 | NDUFB3 | c.289C>T (p.His97Tyr) | |
2 | g.201085608A>C | CA350270876 | NDUFB3 | c.290A>C (p.His97Pro) | |
2 | g.201085608A>G | CA350270883 | NDUFB3 | c.290A>G (p.His97Arg) | gnomAD v4 |
2 | g.201085608A>T | CA350270880 | NDUFB3 | c.290A>T (p.His97Leu) | |
2 | g.201085609T>A | CA350270888 | NDUFB3 | c.291T>A (p.His97Gln) | |
2 | g.201085609T>C | CA430609494 | NDUFB3 | c.291T>C (p.His97=) | |
2 | g.201085609T>G | CA350270892 | NDUFB3 | c.291T>G (p.His97Gln) | |
2 | g.201085610C>A | CA350270898 | NDUFB3 | c.292C>A (p.His98Asn) | |
2 | g.201085610C>G | CA350270901 | NDUFB3 | c.292C>G (p.His98Asp) | |
2 | g.201085610C>T | CA350270924 | NDUFB3 | c.292C>T (p.His98Tyr) | |
2 | g.201085611A= | CA1320914004 | NDUFB3 | c.293A= (p.His98=) | |
2 | g.201085611A>C | CA350270929 | NDUFB3 | c.293A>C (p.His98Pro) | |
2 | g.201085611A>G | CA350270934 | NDUFB3 | c.293A>G (p.His98Arg) | dbSNP |
2 | g.201085611A>T | CA350270935 | NDUFB3 | c.293A>T (p.His98Leu) | |
2 | g.201085612C>A | CA350270937 | NDUFB3 | c.294C>A (p.His98Gln) | |
2 | g.201085612C= | CA1320914005 | NDUFB3 | c.294C= (p.His98=) | |
2 | g.201085612C>G | CA350270940 | NDUFB3 | c.294C>G (p.His98Gln) | dbSNP |
2 | g.201085612C>T | CA63869211 | NDUFB3 | c.294C>T (p.His98=) | dbSNP |
2 | g.201085613T>A | CA350270946 | NDUFB3 | c.295T>A (p.Ter99Arg) | |
2 | g.201085613T>C | CA350270948 | NDUFB3 | c.295T>C (p.Ter99Arg) | |
2 | g.201085613T>G | CA350270953 | NDUFB3 | c.295T>G (p.Ter99Gly) | |
2 | g.201085614G>A | CA430609515 | NDUFB3 | c.296G>A (p.Ter99=) | |
2 | g.201085614G>C | CA350270958 | NDUFB3 | c.296G>C (p.Ter99Ser) | |
2 | g.201085614G>T | CA350270962 | NDUFB3 | c.296G>T (p.Ter99Leu) | |
2 | g.201085615A>C | CA350270969 | NDUFB3 | c.297A>C (p.Ter99Cys) | |
2 | g.201085615A>G | CA350270972 | NDUFB3 | c.297A>G (p.Ter99Trp) | |
2 | g.201085615A>T | CA350270976 | NDUFB3 | c.297A>T (p.Ter99Cys) | |
2 | g.201085618A>G | CA2577233936 | NDUFB3 | c.*3A>G (n.*3A>G) | gnomAD v4 |
2 | g.201085621A= | CA1320914006 | NDUFB3 | c.*6A= (n.*6A=) | |
2 | g.201085621A>G | CA63869221 | NDUFB3 | c.*6A>G (n.*6A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.201085623A= | CA1320914007 | NDUFB3 | c.*8A= (n.*8A=) | |
2 | g.201085623A>G | CA2052340 | NDUFB3 | c.*8A>G (n.*8A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.201085623A>T | CA2577233937 | NDUFB3 | c.*8A>T (n.*8A>T) | gnomAD v4 |
2 | g.201085624C>A | CA2052341 | NDUFB3 | c.*9C>A (n.*9C>A) | dbSNP ExAC gnomAD v2 |
2 | g.201085624C= | CA1320914008 | NDUFB3 | c.*9C= (n.*9C=) | |
2 | g.201085625C>G | CA2662610486 | NDUFB3 | c.*10C>G (n.*10C>G) | gnomAD v4 |
2 | g.201085625C>T | CA2662610487 | NDUFB3 | c.*10C>T (n.*10C>T) | gnomAD v4 |
2 | g.201085626T>C | CA539018665 | NDUFB3 | c.*11T>C (n.*11T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201085626T= | CA1320914009 | NDUFB3 | c.*11T= (n.*11T=) |