Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.201085522_201085530dupCA2052327NDUFB3c.204_212dup (p.Phe71_Lys72insLysGlyPhe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085526G>ACA350270231NDUFB3c.208G>A (p.Gly70Arg)
2g.201085526G>CCA350270229NDUFB3c.208G>C (p.Gly70Arg)
2g.201085526G=CA1320913977NDUFB3c.208G= (p.Gly70=)
2g.201085526G>TCA130617NDUFB3c.208G>T (p.Gly70Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.201085527G>ACA350270234NDUFB3c.209G>A (p.Gly70Glu)
2g.201085527G>CCA350270238NDUFB3c.209G>C (p.Gly70Ala)
2g.201085527G>TCA350270236NDUFB3c.209G>T (p.Gly70Val)
2g.201085528A>CCA430609329NDUFB3c.210A>C (p.Gly70=)
2g.201085528A>GCA430609331NDUFB3c.210A>G (p.Gly70=)
2g.201085528A>TCA430609330NDUFB3c.210A>T (p.Gly70=)
2g.201085529T>ACA350270241NDUFB3c.211T>A (p.Phe71Ile)
2g.201085529T>CCA350270245NDUFB3c.211T>C (p.Phe71Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.201085529T>GCA350270243NDUFB3c.211T>G (p.Phe71Val)
2g.201085529T=CA1320913978NDUFB3c.211T= (p.Phe71=)
2g.201085530T>ACA350270250NDUFB3c.212T>A (p.Phe71Tyr)
2g.201085530T>CCA350270254NDUFB3c.212T>C (p.Phe71Ser)
2g.201085530T>GCA2052328NDUFB3c.212T>G (p.Phe71Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085530T=CA1320913979NDUFB3c.212T= (p.Phe71=)
2g.201085531C>ACA350270255NDUFB3c.213C>A (p.Phe71Leu)
2g.201085531C=CA1320913980NDUFB3c.213C= (p.Phe71=)
2g.201085531C>GCA350270258NDUFB3c.213C>G (p.Phe71Leu)
2g.201085531C>TCA430609332NDUFB3c.213C>T (p.Phe71=)
dbSNP gnomAD v3 gnomAD v4
2g.201085532A>CCA350270260NDUFB3c.214A>C (p.Lys72Gln)
2g.201085532A>GCA350270263NDUFB3c.214A>G (p.Lys72Glu)
gnomAD v4
2g.201085532A>TCA350270265NDUFB3c.214A>T (p.Lys72Ter)
2g.201085533A=CA1320913981NDUFB3c.215A= (p.Lys72=)
2g.201085533A>CCA350270268NDUFB3c.215A>C (p.Lys72Thr)
gnomAD v4
2g.201085533A>GCA2052329NDUFB3c.215A>G (p.Lys72Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.201085533A>TCA350270271NDUFB3c.215A>T (p.Lys72Ile)
2g.201085534A=CA1320913982NDUFB3c.216A= (p.Lys72=)
2g.201085534A>CCA350270274NDUFB3c.216A>C (p.Lys72Asn)
2g.201085534A>GCA430609333NDUFB3c.216A>G (p.Lys72=)
2g.201085534A>TCA350270276NDUFB3c.216A>T (p.Lys72Asn)
dbSNP gnomAD v4
2g.201085535T>ACA350270279NDUFB3c.217T>A (p.Trp73Arg)
2g.201085535T>CCA350270281NDUFB3c.217T>C (p.Trp73Arg)
gnomAD v4
2g.201085535T>GCA350270283NDUFB3c.217T>G (p.Trp73Gly)
2g.201085536G>ACA350270285NDUFB3c.218G>A (p.Trp73Ter)
2g.201085536G>CCA350270288NDUFB3c.218G>C (p.Trp73Ser)
gnomAD v4
2g.201085536G=CA1320913983NDUFB3c.218G= (p.Trp73=)
2g.201085536G>TCA2052330NDUFB3c.218G>T (p.Trp73Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.201085537G>ACA350270290NDUFB3c.219G>A (p.Trp73Ter)
2g.201085537G>CCA350270292NDUFB3c.219G>C (p.Trp73Cys)
2g.201085537G>TCA350270294NDUFB3c.219G>T (p.Trp73Cys)
2g.201085538G>ACA350270297NDUFB3c.220G>A (p.Gly74Arg)
2g.201085538G>CCA350270303NDUFB3c.220G>C (p.Gly74Arg)
2g.201085538G=CA1320913984NDUFB3c.220G= (p.Gly74=)
2g.201085538G>TCA350270309NDUFB3c.220G>T (p.Gly74Ter)
dbSNP gnomAD v2 gnomAD v4
2g.201085539G>ACA350270311NDUFB3c.221G>A (p.Gly74Glu)
dbSNP gnomAD v3 gnomAD v4
2g.201085539G>CCA350270312NDUFB3c.221G>C (p.Gly74Ala)
2g.201085539G=CA1320913985NDUFB3c.221G= (p.Gly74=)
2g.201085539G>TCA350270313NDUFB3c.221G>T (p.Gly74Val)
2g.201085540A>CCA430609336NDUFB3c.222A>C (p.Gly74=)
2g.201085540A>GCA430609338NDUFB3c.222A>G (p.Gly74=)
2g.201085540A>TCA430609337NDUFB3c.222A>T (p.Gly74=)
2g.201085541T>ACA350270320NDUFB3c.223T>A (p.Phe75Ile)
2g.201085541T>CCA350270319NDUFB3c.223T>C (p.Phe75Leu)
2g.201085541T>GCA350270317NDUFB3c.223T>G (p.Phe75Val)
gnomAD v4
2g.201085542T>ACA350270322NDUFB3c.224T>A (p.Phe75Tyr)
2g.201085542T>CCA350270324NDUFB3c.224T>C (p.Phe75Ser)
2g.201085542T>GCA350270328NDUFB3c.224T>G (p.Phe75Cys)
2g.201085543T>ACA350270333NDUFB3c.225T>A (p.Phe75Leu)
2g.201085543T>CCA430609341NDUFB3c.225T>C (p.Phe75=)
2g.201085543T>GCA350270335NDUFB3c.225T>G (p.Phe75Leu)
gnomAD v4
2g.201085544G>ACA2052331NDUFB3c.226G>A (p.Ala76Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085544G>CCA350270349NDUFB3c.226G>C (p.Ala76Pro)
gnomAD v4
2g.201085544G=CA1320913986NDUFB3c.226G= (p.Ala76=)
2g.201085544G>TCA350270354NDUFB3c.226G>T (p.Ala76Ser)
2g.201085545C>ACA350270359NDUFB3c.227C>A (p.Ala76Asp)
dbSNP gnomAD v2 gnomAD v4
2g.201085545C=CA1320913987NDUFB3c.227C= (p.Ala76=)
2g.201085545C>GCA350270361NDUFB3c.227C>G (p.Ala76Gly)
2g.201085545C>TCA350270362NDUFB3c.227C>T (p.Ala76Val)
2g.201085546T>ACA430609344NDUFB3c.228T>A (p.Ala76=)
2g.201085546T>CCA430609345NDUFB3c.228T>C (p.Ala76=)
2g.201085546T>GCA430609347NDUFB3c.228T>G (p.Ala76=)
2g.201085547G>ACA350270378NDUFB3c.229G>A (p.Ala77Thr)
dbSNP gnomAD v2 gnomAD v4
2g.201085547G>CCA350270375NDUFB3c.229G>C (p.Ala77Pro)
2g.201085547G=CA1320913988NDUFB3c.229G= (p.Ala77=)
2g.201085547G>TCA350270366NDUFB3c.229G>T (p.Ala77Ser)
2g.201085548C>ACA350270385NDUFB3c.230C>A (p.Ala77Glu)
2g.201085548C>GCA350270390NDUFB3c.230C>G (p.Ala77Gly)
2g.201085548C>TCA350270391NDUFB3c.230C>T (p.Ala77Val)
2g.201085549A=CA1320913989NDUFB3c.231A= (p.Ala77=)
2g.201085549A>CCA2052332NDUFB3c.231A>C (p.Ala77=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085549A>GCA430609349NDUFB3c.231A>G (p.Ala77=)
2g.201085549A>TCA430609348NDUFB3c.231A>T (p.Ala77=)
dbSNP
2g.201085550T>ACA350270392NDUFB3c.232T>A (p.Phe78Ile)
2g.201085550T>CCA350270393NDUFB3c.232T>C (p.Phe78Leu)
2g.201085550T>GCA350270396NDUFB3c.232T>G (p.Phe78Val)
2g.201085551T>ACA350270400NDUFB3c.233T>A (p.Phe78Tyr)
2g.201085551T>CCA350270403NDUFB3c.233T>C (p.Phe78Ser)
2g.201085551T>GCA350270407NDUFB3c.233T>G (p.Phe78Cys)
2g.201085552T>ACA350270410NDUFB3c.234T>A (p.Phe78Leu)
2g.201085552T>CCA430609351NDUFB3c.234T>C (p.Phe78=)
2g.201085552T>GCA350270412NDUFB3c.234T>G (p.Phe78Leu)
2g.201085553G>ACA63869148NDUFB3c.235G>A (p.Val79Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.201085553G>CCA2052333NDUFB3c.235G>C (p.Val79Leu)
dbSNP ExAC gnomAD v2
2g.201085553G=CA1320913990NDUFB3c.235G= (p.Val79=)
2g.201085553G>TCA350270414NDUFB3c.235G>T (p.Val79Leu)
gnomAD v4
2g.201085554T>ACA350270420NDUFB3c.236T>A (p.Val79Glu)
2g.201085554T>CCA350270425NDUFB3c.236T>C (p.Val79Ala)
2g.201085554T>GCA350270423NDUFB3c.236T>G (p.Val79Gly)
2g.201085555G>ACA430609353NDUFB3c.237G>A (p.Val79=)
2g.201085555G>CCA430609354NDUFB3c.237G>C (p.Val79=)
2g.201085555G>TCA430609355NDUFB3c.237G>T (p.Val79=)
2g.201085556G>ACA350270428NDUFB3c.238G>A (p.Val80Ile)
2g.201085556G>CCA350270430NDUFB3c.238G>C (p.Val80Leu)
2g.201085556G>TCA350270432NDUFB3c.238G>T (p.Val80Leu)
2g.201085557T>ACA350270433NDUFB3c.239T>A (p.Val80Glu)
2g.201085557T>CCA350270435NDUFB3c.239T>C (p.Val80Ala)
2g.201085557T>GCA350270437NDUFB3c.239T>G (p.Val80Gly)
COSMIC
2g.201085558A=CA1320913991NDUFB3c.240A= (p.Val80=)
2g.201085558A>CCA430609356NDUFB3c.240A>C (p.Val80=)
2g.201085558A>GCA430609357NDUFB3c.240A>G (p.Val80=)
2g.201085558A>TCA2052334NDUFB3c.240A>T (p.Val80=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085559G>ACA350270449NDUFB3c.241G>A (p.Ala81Thr)
2g.201085559G>CCA350270450NDUFB3c.241G>C (p.Ala81Pro)
2g.201085559G>TCA350270451NDUFB3c.241G>T (p.Ala81Ser)
2g.201085560C>ACA350270462NDUFB3c.242C>A (p.Ala81Asp)
2g.201085560C=CA1320913992NDUFB3c.242C= (p.Ala81=)
2g.201085560C>GCA63869168NDUFB3c.242C>G (p.Ala81Gly)
dbSNP
2g.201085560C>TCA350270453NDUFB3c.242C>T (p.Ala81Val)
gnomAD v4
2g.201085561T>ACA430609361NDUFB3c.243T>A (p.Ala81=)
2g.201085561T>CCA430609362NDUFB3c.243T>C (p.Ala81=)
gnomAD v4
2g.201085561T>GCA430609363NDUFB3c.243T>G (p.Ala81=)
2g.201085562G>ACA2052335NDUFB3c.244G>A (p.Val82Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085562G>CCA350270467NDUFB3c.244G>C (p.Val82Leu)
2g.201085562G=CA1320913993NDUFB3c.244G= (p.Val82=)
2g.201085562G>TCA350270470NDUFB3c.244G>T (p.Val82Leu)
2g.201085563T>ACA350270475NDUFB3c.245T>A (p.Val82Glu)
2g.201085563T>CCA350270476NDUFB3c.245T>C (p.Val82Ala)
2g.201085563T>GCA350270478NDUFB3c.245T>G (p.Val82Gly)
2g.201085564A>CCA430609366NDUFB3c.246A>C (p.Val82=)
2g.201085564A>GCA430609365NDUFB3c.246A>G (p.Val82=)
COSMIC
2g.201085564A>TCA430609364NDUFB3c.246A>T (p.Val82=)
2g.201085565G>ACA350270483NDUFB3c.247G>A (p.Gly83Arg)
gnomAD v4
2g.201085565G>CCA350270485NDUFB3c.247G>C (p.Gly83Arg)
2g.201085565G>TCA350270487NDUFB3c.247G>T (p.Gly83Ter)
2g.201085566G>ACA350270493NDUFB3c.248G>A (p.Gly83Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.201085566G>CCA350270496NDUFB3c.248G>C (p.Gly83Ala)
2g.201085566G=CA1320913994NDUFB3c.248G= (p.Gly83=)
2g.201085566G>TCA350270499NDUFB3c.248G>T (p.Gly83Val)
2g.201085567A>CCA430609368NDUFB3c.249A>C (p.Gly83=)
2g.201085567A>GCA430609369NDUFB3c.249A>G (p.Gly83=)
2g.201085567A>TCA430609370NDUFB3c.249A>T (p.Gly83=)
2g.201085568G>ACA350270509NDUFB3c.250G>A (p.Ala84Thr)
2g.201085568G>CCA350270520NDUFB3c.250G>C (p.Ala84Pro)
2g.201085568G>TCA350270502NDUFB3c.250G>T (p.Ala84Ser)
COSMIC
2g.201085569C>ACA350270523NDUFB3c.251C>A (p.Ala84Asp)
2g.201085569C>GCA350270526NDUFB3c.251C>G (p.Ala84Gly)
2g.201085569C>TCA350270530NDUFB3c.251C>T (p.Ala84Val)
2g.201085570T>ACA430609372NDUFB3c.252T>A (p.Ala84=)
2g.201085570T>CCA430609373NDUFB3c.252T>C (p.Ala84=)
dbSNP gnomAD v4
2g.201085570T>GCA430609374NDUFB3c.252T>G (p.Ala84=)
2g.201085570T=CA1320913995NDUFB3c.252T= (p.Ala84=)
2g.201085571G>ACA350270534NDUFB3c.253G>A (p.Glu85Lys)
gnomAD v4
2g.201085571G>CCA350270536NDUFB3c.253G>C (p.Glu85Gln)
2g.201085571G>TCA350270538NDUFB3c.253G>T (p.Glu85Ter)
2g.201085572A>CCA350270542NDUFB3c.254A>C (p.Glu85Ala)
2g.201085572A>GCA350270543NDUFB3c.254A>G (p.Glu85Gly)
2g.201085572A>TCA350270548NDUFB3c.254A>T (p.Glu85Val)
2g.201085573A=CA1320913996NDUFB3c.255A= (p.Glu85=)
2g.201085573A>CCA350270552NDUFB3c.255A>C (p.Glu85Asp)
2g.201085573A>GCA2052336NDUFB3c.255A>G (p.Glu85=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085573A>TCA350270557NDUFB3c.255A>T (p.Glu85Asp)
2g.201085574T>ACA350270561NDUFB3c.256T>A (p.Tyr86Asn)
2g.201085574T>CCA350270562NDUFB3c.256T>C (p.Tyr86His)
2g.201085574T>GCA350270560NDUFB3c.256T>G (p.Tyr86Asp)
2g.201085575A=CA1320913997NDUFB3c.257A= (p.Tyr86=)
2g.201085575A>CCA350270563NDUFB3c.257A>C (p.Tyr86Ser)
2g.201085575A>GCA2052337NDUFB3c.257A>G (p.Tyr86Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.201085575A>TCA350270564NDUFB3c.257A>T (p.Tyr86Phe)
2g.201085576T>ACA350270565NDUFB3c.258T>A (p.Tyr86Ter)
2g.201085576T>CCA430609375NDUFB3c.258T>C (p.Tyr86=)
2g.201085576T>GCA350270567NDUFB3c.258T>G (p.Tyr86Ter)
2g.201085577T>ACA350270574NDUFB3c.259T>A (p.Tyr87Asn)
2g.201085577T>CCA350270568NDUFB3c.259T>C (p.Tyr87His)
2g.201085577T>GCA350270571NDUFB3c.259T>G (p.Tyr87Asp)
2g.201085578A>CCA350270577NDUFB3c.260A>C (p.Tyr87Ser)
2g.201085578A>GCA350270581NDUFB3c.260A>G (p.Tyr87Cys)
gnomAD v4
2g.201085578A>TCA350270583NDUFB3c.260A>T (p.Tyr87Phe)
2g.201085579C>ACA350270587NDUFB3c.261C>A (p.Tyr87Ter)
2g.201085579C>GCA350270590NDUFB3c.261C>G (p.Tyr87Ter)
2g.201085579C>TCA430609376NDUFB3c.261C>T (p.Tyr87=)
gnomAD v4 COSMIC
2g.201085580C>ACA2052339NDUFB3c.262C>A (p.Leu88Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085580C=CA1320913998NDUFB3c.262C= (p.Leu88=)
2g.201085580C>GCA350270595NDUFB3c.262C>G (p.Leu88Val)
gnomAD v4
2g.201085580C>TCA2052338NDUFB3c.262C>T (p.Leu88=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085581T>ACA350270605NDUFB3c.263T>A (p.Leu88Gln)
2g.201085581T>CCA350270607NDUFB3c.263T>C (p.Leu88Pro)
2g.201085581T>GCA350270611NDUFB3c.263T>G (p.Leu88Arg)
2g.201085582G>ACA430609378NDUFB3c.264G>A (p.Leu88=)
dbSNP
2g.201085582G>CCA430609379NDUFB3c.264G>C (p.Leu88=)
2g.201085582G=CA1320913999NDUFB3c.264G= (p.Leu88=)
2g.201085582G>TCA430609382NDUFB3c.264G>T (p.Leu88=)
2g.201085583G>ACA350270617NDUFB3c.265G>A (p.Glu89Lys)
2g.201085583G>CCA350270620NDUFB3c.265G>C (p.Glu89Gln)
2g.201085583G>TCA350270623NDUFB3c.265G>T (p.Glu89Ter)
2g.201085584A>CCA350270632NDUFB3c.266A>C (p.Glu89Ala)
gnomAD v4
2g.201085584A>GCA350270627NDUFB3c.266A>G (p.Glu89Gly)
2g.201085584A>TCA350270628NDUFB3c.266A>T (p.Glu89Val)
2g.201085585G>ACA430609389NDUFB3c.267G>A (p.Glu89=)
2g.201085585G>CCA350270634NDUFB3c.267G>C (p.Glu89Asp)
2g.201085585G>TCA350270638NDUFB3c.267G>T (p.Glu89Asp)
2g.201085586T>ACA350270641NDUFB3c.268T>A (p.Ser90Thr)
dbSNP
2g.201085586T>CCA350270644NDUFB3c.268T>C (p.Ser90Pro)
gnomAD v4
2g.201085586T>GCA350270651NDUFB3c.268T>G (p.Ser90Ala)
2g.201085586T=CA1320914000NDUFB3c.268T= (p.Ser90=)
2g.201085587C>ACA350270663NDUFB3c.269C>A (p.Ser90Tyr)
2g.201085587C>GCA350270655NDUFB3c.269C>G (p.Ser90Cys)
2g.201085587C>TCA350270658NDUFB3c.269C>T (p.Ser90Phe)
2g.201085589delCA2662610482NDUFB3c.271del (p.Leu91Ter)
gnomAD v4
2g.201085588C>ACA430609402NDUFB3c.270C>A (p.Ser90=)
gnomAD v4
2g.201085588C>GCA430609404NDUFB3c.270C>G (p.Ser90=)
2g.201085588C>TCA430609406NDUFB3c.270C>T (p.Ser90=)
COSMIC
2g.201085589C>ACA350270669NDUFB3c.271C>A (p.Leu91Met)
2g.201085589C>GCA350270671NDUFB3c.271C>G (p.Leu91Val)
2g.201085589C>TCA430609410NDUFB3c.271C>T (p.Leu91=)
2g.201085590T>ACA350270676NDUFB3c.272T>A (p.Leu91Gln)
2g.201085590T>CCA350270679NDUFB3c.272T>C (p.Leu91Pro)
gnomAD v4 COSMIC
2g.201085590T>GCA350270684NDUFB3c.272T>G (p.Leu91Arg)
2g.201085591G>ACA430609418NDUFB3c.273G>A (p.Leu91=)
2g.201085591G>CCA430609423NDUFB3c.273G>C (p.Leu91=)
2g.201085591G>TCA430609421NDUFB3c.273G>T (p.Leu91=)
2g.201085592A>CCA350270697NDUFB3c.274A>C (p.Asn92His)
2g.201085592A>GCA350270699NDUFB3c.274A>G (p.Asn92Asp)
2g.201085592A>TCA350270703NDUFB3c.274A>T (p.Asn92Tyr)
2g.201085593A>CCA350270708NDUFB3c.275A>C (p.Asn92Thr)
2g.201085593A>GCA350270709NDUFB3c.275A>G (p.Asn92Ser)
2g.201085593A>TCA350270710NDUFB3c.275A>T (p.Asn92Ile)
2g.201085594T>ACA350270713NDUFB3c.276T>A (p.Asn92Lys)
2g.201085594T>CCA430609434NDUFB3c.276T>C (p.Asn92=)
2g.201085594T>GCA350270747NDUFB3c.276T>G (p.Asn92Lys)
2g.201085595A>CCA350270762NDUFB3c.277A>C (p.Lys93Gln)
2g.201085595A>GCA350270760NDUFB3c.277A>G (p.Lys93Glu)
2g.201085595A>TCA350270761NDUFB3c.277A>T (p.Lys93Ter)
2g.201085597dupCA2753866835NDUFB3c.279dup (p.Asp94ArgfsTer2)
2g.201085596A>CCA350270766NDUFB3c.278A>C (p.Lys93Thr)
2g.201085596A>GCA350270773NDUFB3c.278A>G (p.Lys93Arg)
2g.201085596A>TCA350270777NDUFB3c.278A>T (p.Lys93Ile)
2g.201085597A>CCA350270782NDUFB3c.279A>C (p.Lys93Asn)
2g.201085597A>GCA430609448NDUFB3c.279A>G (p.Lys93=)
gnomAD v4
2g.201085597A>TCA350270784NDUFB3c.279A>T (p.Lys93Asn)
2g.201085598G>ACA350270789NDUFB3c.280G>A (p.Asp94Asn)
2g.201085598G>CCA350270792NDUFB3c.280G>C (p.Asp94His)
gnomAD v4 COSMIC
2g.201085598G>TCA350270793NDUFB3c.280G>T (p.Asp94Tyr)
2g.201085599A>CCA350270794NDUFB3c.281A>C (p.Asp94Ala)
2g.201085599A>GCA350270796NDUFB3c.281A>G (p.Asp94Gly)
2g.201085599A>TCA350270799NDUFB3c.281A>T (p.Asp94Val)
2g.201085600T>ACA350270805NDUFB3c.282T>A (p.Asp94Glu)
2g.201085600T>CCA430609460NDUFB3c.282T>C (p.Asp94=)
2g.201085600T>GCA350270809NDUFB3c.282T>G (p.Asp94Glu)
2g.201085600dupCA2662610484NDUFB3c.282dup (p.Lys95Ter)
gnomAD v4
2g.201085601A>CCA350270815NDUFB3c.283A>C (p.Lys95Gln)
2g.201085601A>GCA350270814NDUFB3c.283A>G (p.Lys95Glu)
2g.201085601A>TCA350270813NDUFB3c.283A>T (p.Lys95Ter)
2g.201085604_201085606delCA2577233935NDUFB3c.286_288del (p.Lys96del)
2g.201085602A>CCA350270819NDUFB3c.284A>C (p.Lys95Thr)
2g.201085602A>GCA350270823NDUFB3c.284A>G (p.Lys95Arg)
gnomAD v4
2g.201085602A>TCA350270825NDUFB3c.284A>T (p.Lys95Met)
2g.201085603G>ACA430609469NDUFB3c.285G>A (p.Lys95=)
gnomAD v4
2g.201085603G>CCA350270831NDUFB3c.285G>C (p.Lys95Asn)
2g.201085603G>TCA350270836NDUFB3c.285G>T (p.Lys95Asn)
2g.201085604A>CCA350270839NDUFB3c.286A>C (p.Lys96Gln)
2g.201085604A>GCA350270843NDUFB3c.286A>G (p.Lys96Glu)
2g.201085604A>TCA350270848NDUFB3c.286A>T (p.Lys96Ter)
2g.201085605A=CA1320914001NDUFB3c.287A= (p.Lys96=)
2g.201085605A>CCA350270853NDUFB3c.287A>C (p.Lys96Thr)
dbSNP gnomAD v3 gnomAD v4
2g.201085605A>GCA350270855NDUFB3c.287A>G (p.Lys96Arg)
dbSNP gnomAD v3 gnomAD v4
2g.201085605A>TCA350270859NDUFB3c.287A>T (p.Lys96Met)
2g.201085605_201085606insAAAATTATAATCATACACAACGTGTGTGTATATACCA916752120NDUFB3c.287_288insAAAATTATAATCATACACAACGTGTGTGTATATAC (p.His97LysfsTer3)
dbSNP
2g.201085606G>ACA430609480NDUFB3c.288G>A (p.Lys96=)
ClinVar dbSNP gnomAD v4
2g.201085606G>CCA350270863NDUFB3c.288G>C (p.Lys96Asn)
2g.201085606G=CA1320914002NDUFB3c.288G= (p.Lys96=)
2g.201085606G>TCA350270864NDUFB3c.288G>T (p.Lys96Asn)
2g.201085607C>ACA350270868NDUFB3c.289C>A (p.His97Asn)
dbSNP
2g.201085607C=CA1320914003NDUFB3c.289C= (p.His97=)
2g.201085607C>GCA350270870NDUFB3c.289C>G (p.His97Asp)
2g.201085607C>TCA350270865NDUFB3c.289C>T (p.His97Tyr)
2g.201085608A>CCA350270876NDUFB3c.290A>C (p.His97Pro)
2g.201085608A>GCA350270883NDUFB3c.290A>G (p.His97Arg)
gnomAD v4
2g.201085608A>TCA350270880NDUFB3c.290A>T (p.His97Leu)
2g.201085609T>ACA350270888NDUFB3c.291T>A (p.His97Gln)
2g.201085609T>CCA430609494NDUFB3c.291T>C (p.His97=)
2g.201085609T>GCA350270892NDUFB3c.291T>G (p.His97Gln)
2g.201085610C>ACA350270898NDUFB3c.292C>A (p.His98Asn)
2g.201085610C>GCA350270901NDUFB3c.292C>G (p.His98Asp)
2g.201085610C>TCA350270924NDUFB3c.292C>T (p.His98Tyr)
2g.201085611A=CA1320914004NDUFB3c.293A= (p.His98=)
2g.201085611A>CCA350270929NDUFB3c.293A>C (p.His98Pro)
2g.201085611A>GCA350270934NDUFB3c.293A>G (p.His98Arg)
dbSNP
2g.201085611A>TCA350270935NDUFB3c.293A>T (p.His98Leu)
2g.201085612C>ACA350270937NDUFB3c.294C>A (p.His98Gln)
2g.201085612C=CA1320914005NDUFB3c.294C= (p.His98=)
2g.201085612C>GCA350270940NDUFB3c.294C>G (p.His98Gln)
dbSNP
2g.201085612C>TCA63869211NDUFB3c.294C>T (p.His98=)
dbSNP
2g.201085613T>ACA350270946NDUFB3c.295T>A (p.Ter99Arg)
2g.201085613T>CCA350270948NDUFB3c.295T>C (p.Ter99Arg)
2g.201085613T>GCA350270953NDUFB3c.295T>G (p.Ter99Gly)
2g.201085614G>ACA430609515NDUFB3c.296G>A (p.Ter99=)
2g.201085614G>CCA350270958NDUFB3c.296G>C (p.Ter99Ser)
2g.201085614G>TCA350270962NDUFB3c.296G>T (p.Ter99Leu)
2g.201085615A>CCA350270969NDUFB3c.297A>C (p.Ter99Cys)
2g.201085615A>GCA350270972NDUFB3c.297A>G (p.Ter99Trp)
2g.201085615A>TCA350270976NDUFB3c.297A>T (p.Ter99Cys)
2g.201085618A>GCA2577233936NDUFB3c.*3A>G (n.*3A>G)
gnomAD v4
2g.201085621A=CA1320914006NDUFB3c.*6A= (n.*6A=)
2g.201085621A>GCA63869221NDUFB3c.*6A>G (n.*6A>G)
dbSNP gnomAD v3 gnomAD v4
2g.201085623A=CA1320914007NDUFB3c.*8A= (n.*8A=)
2g.201085623A>GCA2052340NDUFB3c.*8A>G (n.*8A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.201085623A>TCA2577233937NDUFB3c.*8A>T (n.*8A>T)
gnomAD v4
2g.201085624C>ACA2052341NDUFB3c.*9C>A (n.*9C>A)
dbSNP ExAC gnomAD v2
2g.201085624C=CA1320914008NDUFB3c.*9C= (n.*9C=)
2g.201085625C>GCA2662610486NDUFB3c.*10C>G (n.*10C>G)
gnomAD v4
2g.201085625C>TCA2662610487NDUFB3c.*10C>T (n.*10C>T)
gnomAD v4
2g.201085626T>CCA539018665NDUFB3c.*11T>C (n.*11T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.201085626T=CA1320914009NDUFB3c.*11T= (n.*11T=)

Number of alleles fetched