Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206144986T>ACA350057543NDUFS1c.778A>T (p.Asn260Tyr)
c.607A>T (p.Asn203Tyr)
c.445A>T (p.Asn149Tyr)
c.670A>T (p.Asn224Tyr)
c.820A>T (p.Asn274Tyr)
c.430A>T (p.Asn144Tyr)
c.19A>T (p.Asn7Tyr)
2g.206144986T>CCA350057549NDUFS1c.778A>G (p.Asn260Asp)
c.607A>G (p.Asn203Asp)
c.445A>G (p.Asn149Asp)
c.670A>G (p.Asn224Asp)
c.820A>G (p.Asn274Asp)
c.430A>G (p.Asn144Asp)
c.19A>G (p.Asn7Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.206144986T>GCA350057546NDUFS1c.778A>C (p.Asn260His)
c.607A>C (p.Asn203His)
c.445A>C (p.Asn149His)
c.670A>C (p.Asn224His)
c.820A>C (p.Asn274His)
c.430A>C (p.Asn144His)
c.19A>C (p.Asn7His)
2g.206144986T=CA2496487399NDUFS1c.778A= (p.Asn260=)
c.607A= (p.Asn203=)
c.445A= (p.Asn149=)
c.670A= (p.Asn224=)
c.820A= (p.Asn274=)
c.430A= (p.Asn144=)
c.19A= (p.Asn7=)
2g.206144987A>CCA350057556NDUFS1c.777T>G (p.Ser259Arg)
c.606T>G (p.Ser202Arg)
c.444T>G (p.Ser148Arg)
c.669T>G (p.Ser223Arg)
c.819T>G (p.Ser273Arg)
c.429T>G (p.Ser143Arg)
c.18T>G (p.Ser6Arg)
2g.206144987A>GCA430953295NDUFS1c.777T>C (p.Ser259=)
c.606T>C (p.Ser202=)
c.444T>C (p.Ser148=)
c.669T>C (p.Ser223=)
c.819T>C (p.Ser273=)
c.429T>C (p.Ser143=)
c.18T>C (p.Ser6=)
2g.206144987A>TCA350057562NDUFS1c.777T>A (p.Ser259Arg)
c.606T>A (p.Ser202Arg)
c.444T>A (p.Ser148Arg)
c.669T>A (p.Ser223Arg)
c.819T>A (p.Ser273Arg)
c.429T>A (p.Ser143Arg)
c.18T>A (p.Ser6Arg)
2g.206144988C>ACA350057566NDUFS1c.776G>T (p.Ser259Ile)
c.605G>T (p.Ser202Ile)
c.443G>T (p.Ser148Ile)
c.668G>T (p.Ser223Ile)
c.818G>T (p.Ser273Ile)
c.428G>T (p.Ser143Ile)
c.17G>T (p.Ser6Ile)
2g.206144988C>GCA350057572NDUFS1c.776G>C (p.Ser259Thr)
c.605G>C (p.Ser202Thr)
c.443G>C (p.Ser148Thr)
c.668G>C (p.Ser223Thr)
c.818G>C (p.Ser273Thr)
c.428G>C (p.Ser143Thr)
c.17G>C (p.Ser6Thr)
2g.206144988C>TCA350057570NDUFS1c.776G>A (p.Ser259Asn)
c.605G>A (p.Ser202Asn)
c.443G>A (p.Ser148Asn)
c.668G>A (p.Ser223Asn)
c.818G>A (p.Ser273Asn)
c.428G>A (p.Ser143Asn)
c.17G>A (p.Ser6Asn)
2g.206144989T>ACA350057573NDUFS1c.775A>T (p.Ser259Cys)
c.604A>T (p.Ser202Cys)
c.442A>T (p.Ser148Cys)
c.667A>T (p.Ser223Cys)
c.817A>T (p.Ser273Cys)
c.427A>T (p.Ser143Cys)
c.16A>T (p.Ser6Cys)
2g.206144989T>CCA350057574NDUFS1c.775A>G (p.Ser259Gly)
c.604A>G (p.Ser202Gly)
c.442A>G (p.Ser148Gly)
c.667A>G (p.Ser223Gly)
c.817A>G (p.Ser273Gly)
c.427A>G (p.Ser143Gly)
c.16A>G (p.Ser6Gly)
2g.206144989T>GCA350057575NDUFS1c.775A>C (p.Ser259Arg)
c.604A>C (p.Ser202Arg)
c.442A>C (p.Ser148Arg)
c.667A>C (p.Ser223Arg)
c.817A>C (p.Ser273Arg)
c.427A>C (p.Ser143Arg)
c.16A>C (p.Ser6Arg)
2g.206144990T>ACA430953320NDUFS1c.774A>T (p.Gly258=)
c.603A>T (p.Gly201=)
c.441A>T (p.Gly147=)
c.666A>T (p.Gly222=)
c.816A>T (p.Gly272=)
c.426A>T (p.Gly142=)
c.15A>T (p.Gly5=)
 dbSNP gnomAD v2 gnomAD v4
2g.206144990T>CCA430953321NDUFS1c.774A>G (p.Gly258=)
c.603A>G (p.Gly201=)
c.441A>G (p.Gly147=)
c.666A>G (p.Gly222=)
c.816A>G (p.Gly272=)
c.426A>G (p.Gly142=)
c.15A>G (p.Gly5=)
2g.206144990T>GCA430953322NDUFS1c.774A>C (p.Gly258=)
c.603A>C (p.Gly201=)
c.441A>C (p.Gly147=)
c.666A>C (p.Gly222=)
c.816A>C (p.Gly272=)
c.426A>C (p.Gly142=)
c.15A>C (p.Gly5=)
2g.206144990T=CA2496487400NDUFS1c.774A= (p.Gly258=)
c.603A= (p.Gly201=)
c.441A= (p.Gly147=)
c.666A= (p.Gly222=)
c.816A= (p.Gly272=)
c.426A= (p.Gly142=)
c.15A= (p.Gly5=)
2g.206144991C>ACA350057576NDUFS1c.773G>T (p.Gly258Val)
c.602G>T (p.Gly201Val)
c.440G>T (p.Gly147Val)
c.665G>T (p.Gly222Val)
c.815G>T (p.Gly272Val)
c.425G>T (p.Gly142Val)
c.14G>T (p.Gly5Val)
2g.206144991C=CA2496487401NDUFS1c.773G= (p.Gly258=)
c.602G= (p.Gly201=)
c.440G= (p.Gly147=)
c.665G= (p.Gly222=)
c.815G= (p.Gly272=)
c.425G= (p.Gly142=)
c.14G= (p.Gly5=)
2g.206144991C>GCA350057578NDUFS1c.773G>C (p.Gly258Ala)
c.602G>C (p.Gly201Ala)
c.440G>C (p.Gly147Ala)
c.665G>C (p.Gly222Ala)
c.815G>C (p.Gly272Ala)
c.425G>C (p.Gly142Ala)
c.14G>C (p.Gly5Ala)
2g.206144991C>TCA350057579NDUFS1c.773G>A (p.Gly258Glu)
c.602G>A (p.Gly201Glu)
c.440G>A (p.Gly147Glu)
c.665G>A (p.Gly222Glu)
c.815G>A (p.Gly272Glu)
c.425G>A (p.Gly142Glu)
c.14G>A (p.Gly5Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206144992delCA2577222173NDUFS1c.773del (p.Gly258GlufsTer13)
c.602del (p.Gly201GlufsTer13)
c.440del (p.Gly147GlufsTer13)
c.665del (p.Gly222GlufsTer13)
c.815del (p.Gly272GlufsTer13)
c.425del (p.Gly142GlufsTer13)
c.14del (p.Gly5GlufsTer13)
2g.206144992C>ACA350057581NDUFS1c.772G>T (p.Gly258Ter)
c.601G>T (p.Gly201Ter)
c.439G>T (p.Gly147Ter)
c.664G>T (p.Gly222Ter)
c.814G>T (p.Gly272Ter)
c.424G>T (p.Gly142Ter)
c.13G>T (p.Gly5Ter)
2g.206144992C>GCA350057582NDUFS1c.772G>C (p.Gly258Arg)
c.601G>C (p.Gly201Arg)
c.439G>C (p.Gly147Arg)
c.664G>C (p.Gly222Arg)
c.814G>C (p.Gly272Arg)
c.424G>C (p.Gly142Arg)
c.13G>C (p.Gly5Arg)
2g.206144992C>TCA350057583NDUFS1c.772G>A (p.Gly258Arg)
c.601G>A (p.Gly201Arg)
c.439G>A (p.Gly147Arg)
c.664G>A (p.Gly222Arg)
c.814G>A (p.Gly272Arg)
c.424G>A (p.Gly142Arg)
c.13G>A (p.Gly5Arg)
 gnomAD v4
2g.206144993A>CCA430953341NDUFS1c.771T>G (p.Val257=)
c.600T>G (p.Val200=)
c.438T>G (p.Val146=)
c.663T>G (p.Val221=)
c.813T>G (p.Val271=)
c.423T>G (p.Val141=)
c.12T>G (p.Val4=)
2g.206144993A>GCA430953344NDUFS1c.771T>C (p.Val257=)
c.600T>C (p.Val200=)
c.438T>C (p.Val146=)
c.663T>C (p.Val221=)
c.813T>C (p.Val271=)
c.423T>C (p.Val141=)
c.12T>C (p.Val4=)
2g.206144993A>TCA430953345NDUFS1c.771T>A (p.Val257=)
c.600T>A (p.Val200=)
c.438T>A (p.Val146=)
c.663T>A (p.Val221=)
c.813T>A (p.Val271=)
c.423T>A (p.Val141=)
c.12T>A (p.Val4=)
2g.206144994A>CCA350057584NDUFS1c.770T>G (p.Val257Gly)
c.599T>G (p.Val200Gly)
c.437T>G (p.Val146Gly)
c.662T>G (p.Val221Gly)
c.812T>G (p.Val271Gly)
c.422T>G (p.Val141Gly)
c.11T>G (p.Val4Gly)
 COSMIC
2g.206144994A>GCA350057586NDUFS1c.770T>C (p.Val257Ala)
c.599T>C (p.Val200Ala)
c.437T>C (p.Val146Ala)
c.662T>C (p.Val221Ala)
c.812T>C (p.Val271Ala)
c.422T>C (p.Val141Ala)
c.11T>C (p.Val4Ala)
 gnomAD v4
2g.206144994A>TCA350057590NDUFS1c.770T>A (p.Val257Asp)
c.599T>A (p.Val200Asp)
c.437T>A (p.Val146Asp)
c.662T>A (p.Val221Asp)
c.812T>A (p.Val271Asp)
c.422T>A (p.Val141Asp)
c.11T>A (p.Val4Asp)
2g.206144995C>ACA350057592NDUFS1c.769G>T (p.Val257Phe)
c.598G>T (p.Val200Phe)
c.436G>T (p.Val146Phe)
c.661G>T (p.Val221Phe)
c.811G>T (p.Val271Phe)
c.421G>T (p.Val141Phe)
c.10G>T (p.Val4Phe)
2g.206144995C>GCA350057594NDUFS1c.769G>C (p.Val257Leu)
c.598G>C (p.Val200Leu)
c.436G>C (p.Val146Leu)
c.661G>C (p.Val221Leu)
c.811G>C (p.Val271Leu)
c.421G>C (p.Val141Leu)
c.10G>C (p.Val4Leu)
2g.206144995C>TCA350057593NDUFS1c.769G>A (p.Val257Ile)
c.598G>A (p.Val200Ile)
c.436G>A (p.Val146Ile)
c.661G>A (p.Val221Ile)
c.811G>A (p.Val271Ile)
c.421G>A (p.Val141Ile)
c.10G>A (p.Val4Ile)
2g.206144996C>ACA430953372NDUFS1c.768G>T (p.Ala256=)
c.597G>T (p.Ala199=)
c.435G>T (p.Ala145=)
c.660G>T (p.Ala220=)
c.810G>T (p.Ala270=)
c.420G>T (p.Ala140=)
c.9G>T (p.Ala3=)
2g.206144996C=CA2496487402NDUFS1c.768G= (p.Ala256=)
c.597G= (p.Ala199=)
c.435G= (p.Ala145=)
c.660G= (p.Ala220=)
c.810G= (p.Ala270=)
c.420G= (p.Ala140=)
c.9G= (p.Ala3=)
2g.206144996C>GCA430953377NDUFS1c.768G>C (p.Ala256=)
c.597G>C (p.Ala199=)
c.435G>C (p.Ala145=)
c.660G>C (p.Ala220=)
c.810G>C (p.Ala270=)
c.420G>C (p.Ala140=)
c.9G>C (p.Ala3=)
 gnomAD v4
2g.206144996C>TCA2070657NDUFS1c.768G>A (p.Ala256=)
c.597G>A (p.Ala199=)
c.435G>A (p.Ala145=)
c.660G>A (p.Ala220=)
c.810G>A (p.Ala270=)
c.420G>A (p.Ala140=)
c.9G>A (p.Ala3=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.206144997G>ACA63665100NDUFS1c.767C>T (p.Ala256Val)
c.596C>T (p.Ala199Val)
c.434C>T (p.Ala145Val)
c.659C>T (p.Ala220Val)
c.809C>T (p.Ala270Val)
c.419C>T (p.Ala140Val)
c.8C>T (p.Ala3Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.206144997G>CCA350057603NDUFS1c.767C>G (p.Ala256Gly)
c.596C>G (p.Ala199Gly)
c.434C>G (p.Ala145Gly)
c.659C>G (p.Ala220Gly)
c.809C>G (p.Ala270Gly)
c.419C>G (p.Ala140Gly)
c.8C>G (p.Ala3Gly)
2g.206144997G=CA2496487403NDUFS1c.767C= (p.Ala256=)
c.596C= (p.Ala199=)
c.434C= (p.Ala145=)
c.659C= (p.Ala220=)
c.809C= (p.Ala270=)
c.419C= (p.Ala140=)
c.8C= (p.Ala3=)
2g.206144997G>TCA350057605NDUFS1c.767C>A (p.Ala256Glu)
c.596C>A (p.Ala199Glu)
c.434C>A (p.Ala145Glu)
c.659C>A (p.Ala220Glu)
c.809C>A (p.Ala270Glu)
c.419C>A (p.Ala140Glu)
c.8C>A (p.Ala3Glu)
 gnomAD v4
2g.206144998C>ACA350057606NDUFS1c.766G>T (p.Ala256Ser)
c.595G>T (p.Ala199Ser)
c.433G>T (p.Ala145Ser)
c.658G>T (p.Ala220Ser)
c.808G>T (p.Ala270Ser)
c.418G>T (p.Ala140Ser)
c.7G>T (p.Ala3Ser)
2g.206144998C=CA2496487404NDUFS1c.766G= (p.Ala256=)
c.595G= (p.Ala199=)
c.433G= (p.Ala145=)
c.658G= (p.Ala220=)
c.808G= (p.Ala270=)
c.418G= (p.Ala140=)
c.7G= (p.Ala3=)
2g.206144998C>GCA350057609NDUFS1c.766G>C (p.Ala256Pro)
c.595G>C (p.Ala199Pro)
c.433G>C (p.Ala145Pro)
c.658G>C (p.Ala220Pro)
c.808G>C (p.Ala270Pro)
c.418G>C (p.Ala140Pro)
c.7G>C (p.Ala3Pro)
2g.206144998C>TCA2070658NDUFS1c.766G>A (p.Ala256Thr)
c.595G>A (p.Ala199Thr)
c.433G>A (p.Ala145Thr)
c.658G>A (p.Ala220Thr)
c.808G>A (p.Ala270Thr)
c.418G>A (p.Ala140Thr)
c.7G>A (p.Ala3Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144999A=CA2496487405NDUFS1c.765T= (p.Asp255=)
c.594T= (p.Asp198=)
c.432T= (p.Asp144=)
c.657T= (p.Asp219=)
c.807T= (p.Asp269=)
c.417T= (p.Asp139=)
c.6T= (p.Asp2=)
2g.206144999A>CCA350057615NDUFS1c.765T>G (p.Asp255Glu)
c.594T>G (p.Asp198Glu)
c.432T>G (p.Asp144Glu)
c.657T>G (p.Asp219Glu)
c.807T>G (p.Asp269Glu)
c.417T>G (p.Asp139Glu)
c.6T>G (p.Asp2Glu)
2g.206144999A>GCA430953400NDUFS1c.765T>C (p.Asp255=)
c.594T>C (p.Asp198=)
c.432T>C (p.Asp144=)
c.657T>C (p.Asp219=)
c.807T>C (p.Asp269=)
c.417T>C (p.Asp139=)
c.6T>C (p.Asp2=)
 dbSNP gnomAD v3 gnomAD v4
2g.206144999A>TCA350057618NDUFS1c.765T>A (p.Asp255Glu)
c.594T>A (p.Asp198Glu)
c.432T>A (p.Asp144Glu)
c.657T>A (p.Asp219Glu)
c.807T>A (p.Asp269Glu)
c.417T>A (p.Asp139Glu)
c.6T>A (p.Asp2Glu)
2g.206145000T>ACA350057626NDUFS1c.764A>T (p.Asp255Val)
c.593A>T (p.Asp198Val)
c.431A>T (p.Asp144Val)
c.656A>T (p.Asp219Val)
c.806A>T (p.Asp269Val)
c.416A>T (p.Asp139Val)
c.5A>T (p.Asp2Val)
2g.206145000T>CCA350057623NDUFS1c.764A>G (p.Asp255Gly)
c.593A>G (p.Asp198Gly)
c.431A>G (p.Asp144Gly)
c.656A>G (p.Asp219Gly)
c.806A>G (p.Asp269Gly)
c.416A>G (p.Asp139Gly)
c.5A>G (p.Asp2Gly)
 dbSNP
2g.206145000T>GCA350057620NDUFS1c.764A>C (p.Asp255Ala)
c.593A>C (p.Asp198Ala)
c.431A>C (p.Asp144Ala)
c.656A>C (p.Asp219Ala)
c.806A>C (p.Asp269Ala)
c.416A>C (p.Asp139Ala)
c.5A>C (p.Asp2Ala)
2g.206145001C>ACA350057629NDUFS1c.763G>T (p.Asp255Tyr)
c.592G>T (p.Asp198Tyr)
c.430G>T (p.Asp144Tyr)
c.655G>T (p.Asp219Tyr)
c.805G>T (p.Asp269Tyr)
c.415G>T (p.Asp139Tyr)
c.4G>T (p.Asp2Tyr)
2g.206145001C=CA2496487406NDUFS1c.763G= (p.Asp255=)
c.592G= (p.Asp198=)
c.430G= (p.Asp144=)
c.655G= (p.Asp219=)
c.805G= (p.Asp269=)
c.415G= (p.Asp139=)
c.4G= (p.Asp2=)
2g.206145001C>GCA350057636NDUFS1c.763G>C (p.Asp255His)
c.592G>C (p.Asp198His)
c.430G>C (p.Asp144His)
c.655G>C (p.Asp219His)
c.805G>C (p.Asp269His)
c.415G>C (p.Asp139His)
c.4G>C (p.Asp2His)
2g.206145001C>TCA350057638NDUFS1c.763G>A (p.Asp255Asn)
c.592G>A (p.Asp198Asn)
c.430G>A (p.Asp144Asn)
c.655G>A (p.Asp219Asn)
c.805G>A (p.Asp269Asn)
c.415G>A (p.Asp139Asn)
c.4G>A (p.Asp2Asn)
 dbSNP gnomAD v4
2g.206145002C>ACA350057643NDUFS1c.762G>T (p.Met254Ile)
c.591G>T (p.Met197Ile)
c.429G>T (p.Met143Ile)
c.654G>T (p.Met218Ile)
c.804G>T (p.Met268Ile)
c.414G>T (p.Met138Ile)
c.3G>T (p.Met1Ile)
2g.206145002C>GCA350057645NDUFS1c.762G>C (p.Met254Ile)
c.591G>C (p.Met197Ile)
c.429G>C (p.Met143Ile)
c.654G>C (p.Met218Ile)
c.804G>C (p.Met268Ile)
c.414G>C (p.Met138Ile)
c.3G>C (p.Met1Ile)
2g.206145002C>TCA350057647NDUFS1c.762G>A (p.Met254Ile)
c.591G>A (p.Met197Ile)
c.429G>A (p.Met143Ile)
c.654G>A (p.Met218Ile)
c.804G>A (p.Met268Ile)
c.414G>A (p.Met138Ile)
c.3G>A (p.Met1Ile)
 gnomAD v4
2g.206145003A>CCA350057652NDUFS1c.761T>G (p.Met254Arg)
c.590T>G (p.Met197Arg)
c.428T>G (p.Met143Arg)
c.653T>G (p.Met218Arg)
c.803T>G (p.Met268Arg)
c.413T>G (p.Met138Arg)
c.2T>G (p.Met1Arg)
2g.206145003A>GCA350057656NDUFS1c.761T>C (p.Met254Thr)
c.590T>C (p.Met197Thr)
c.428T>C (p.Met143Thr)
c.653T>C (p.Met218Thr)
c.803T>C (p.Met268Thr)
c.413T>C (p.Met138Thr)
c.2T>C (p.Met1Thr)
2g.206145003A>TCA350057658NDUFS1c.761T>A (p.Met254Lys)
c.590T>A (p.Met197Lys)
c.428T>A (p.Met143Lys)
c.653T>A (p.Met218Lys)
c.803T>A (p.Met268Lys)
c.413T>A (p.Met138Lys)
c.2T>A (p.Met1Lys)
2g.206145004T>ACA350057663NDUFS1c.760A>T (p.Met254Leu)
c.589A>T (p.Met197Leu)
c.427A>T (p.Met143Leu)
c.652A>T (p.Met218Leu)
c.802A>T (p.Met268Leu)
c.412A>T (p.Met138Leu)
c.1A>T (p.Met1Leu)
2g.206145004T>CCA2070659NDUFS1c.760A>G (p.Met254Val)
c.589A>G (p.Met197Val)
c.427A>G (p.Met143Val)
c.652A>G (p.Met218Val)
c.802A>G (p.Met268Val)
c.412A>G (p.Met138Val)
c.1A>G (p.Met1Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206145004T>GCA350057667NDUFS1c.760A>C (p.Met254Leu)
c.589A>C (p.Met197Leu)
c.427A>C (p.Met143Leu)
c.652A>C (p.Met218Leu)
c.802A>C (p.Met268Leu)
c.412A>C (p.Met138Leu)
c.1A>C (p.Met1Leu)
2g.206145004T=CA2496487407NDUFS1c.760A= (p.Met254=)
c.589A= (p.Met197=)
c.427A= (p.Met143=)
c.652A= (p.Met218=)
c.802A= (p.Met268=)
c.412A= (p.Met138=)
c.1A= (p.Met1=)
2g.206145005T>ACA430953487NDUFS1c.759A>T (p.Val253=)
c.588A>T (p.Val196=)
c.426A>T (p.Val142=)
c.651A>T (p.Val217=)
c.801A>T (p.Val267=)
c.411A>T (p.Val137=)
c.-1A>T (n.-1A>T)
2g.206145005T>CCA430953482NDUFS1c.759A>G (p.Val253=)
c.588A>G (p.Val196=)
c.426A>G (p.Val142=)
c.651A>G (p.Val217=)
c.801A>G (p.Val267=)
c.411A>G (p.Val137=)
c.-1A>G (n.-1A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.206145005T>GCA430953469NDUFS1c.759A>C (p.Val253=)
c.588A>C (p.Val196=)
c.426A>C (p.Val142=)
c.651A>C (p.Val217=)
c.801A>C (p.Val267=)
c.411A>C (p.Val137=)
c.-1A>C (n.-1A>C)
2g.206145005T=CA2496487408NDUFS1c.759A= (p.Val253=)
c.588A= (p.Val196=)
c.426A= (p.Val142=)
c.651A= (p.Val217=)
c.801A= (p.Val267=)
c.411A= (p.Val137=)
c.-1A= (n.-1A=)
2g.206145006A=CA2496487409NDUFS1c.758T= (p.Val253=)
c.587T= (p.Val196=)
c.425T= (p.Val142=)
c.650T= (p.Val217=)
c.800T= (p.Val267=)
c.410T= (p.Val137=)
c.-2T= (n.-2T=)
2g.206145006A>CCA274773NDUFS1c.758T>G (p.Val253Gly)
c.587T>G (p.Val196Gly)
c.425T>G (p.Val142Gly)
c.650T>G (p.Val217Gly)
c.800T>G (p.Val267Gly)
c.410T>G (p.Val137Gly)
c.-2T>G (n.-2T>G)
 ClinVar dbSNP
2g.206145006A>GCA350057669NDUFS1c.758T>C (p.Val253Ala)
c.587T>C (p.Val196Ala)
c.425T>C (p.Val142Ala)
c.650T>C (p.Val217Ala)
c.800T>C (p.Val267Ala)
c.410T>C (p.Val137Ala)
c.-2T>C (n.-2T>C)
2g.206145006A>TCA350057672NDUFS1c.758T>A (p.Val253Glu)
c.587T>A (p.Val196Glu)
c.425T>A (p.Val142Glu)
c.650T>A (p.Val217Glu)
c.800T>A (p.Val267Glu)
c.410T>A (p.Val137Glu)
c.-2T>A (n.-2T>A)
2g.206145007C>ACA350057677NDUFS1c.757G>T (p.Val253Leu)
c.586G>T (p.Val196Leu)
c.424G>T (p.Val142Leu)
c.649G>T (p.Val217Leu)
c.799G>T (p.Val267Leu)
c.409G>T (p.Val137Leu)
c.-3G>T (n.-3G>T)
2g.206145007C=CA2496487410NDUFS1c.757G= (p.Val253=)
c.586G= (p.Val196=)
c.424G= (p.Val142=)
c.649G= (p.Val217=)
c.799G= (p.Val267=)
c.409G= (p.Val137=)
c.-3G= (n.-3G=)
2g.206145007C>GCA350057687NDUFS1c.757G>C (p.Val253Leu)
c.586G>C (p.Val196Leu)
c.424G>C (p.Val142Leu)
c.649G>C (p.Val217Leu)
c.799G>C (p.Val267Leu)
c.409G>C (p.Val137Leu)
c.-3G>C (n.-3G>C)
2g.206145007C>TCA2070660NDUFS1c.757G>A (p.Val253Ile)
c.586G>A (p.Val196Ile)
c.424G>A (p.Val142Ile)
c.649G>A (p.Val217Ile)
c.799G>A (p.Val267Ile)
c.409G>A (p.Val137Ile)
c.-3G>A (n.-3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.206145008A>CCA350057692NDUFS1c.756T>G (p.Asp252Glu)
c.585T>G (p.Asp195Glu)
c.423T>G (p.Asp141Glu)
c.648T>G (p.Asp216Glu)
c.798T>G (p.Asp266Glu)
c.408T>G (p.Asp136Glu)
c.-4T>G (n.-4T>G)
2g.206145008A>GCA430953537NDUFS1c.756T>C (p.Asp252=)
c.585T>C (p.Asp195=)
c.423T>C (p.Asp141=)
c.648T>C (p.Asp216=)
c.798T>C (p.Asp266=)
c.408T>C (p.Asp136=)
c.-4T>C (n.-4T>C)
2g.206145008A>TCA350057695NDUFS1c.756T>A (p.Asp252Glu)
c.585T>A (p.Asp195Glu)
c.423T>A (p.Asp141Glu)
c.648T>A (p.Asp216Glu)
c.798T>A (p.Asp266Glu)
c.408T>A (p.Asp136Glu)
c.-4T>A (n.-4T>A)
2g.206145009T>ACA350057697NDUFS1c.755A>T (p.Asp252Val)
c.584A>T (p.Asp195Val)
c.422A>T (p.Asp141Val)
c.647A>T (p.Asp216Val)
c.797A>T (p.Asp266Val)
c.407A>T (p.Asp136Val)
c.-5A>T (n.-5A>T)
2g.206145009T>CCA123814NDUFS1c.755A>G (p.Asp252Gly)
c.584A>G (p.Asp195Gly)
c.422A>G (p.Asp141Gly)
c.647A>G (p.Asp216Gly)
c.797A>G (p.Asp266Gly)
c.407A>G (p.Asp136Gly)
c.-5A>G (n.-5A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206145009T>GCA350057701NDUFS1c.755A>C (p.Asp252Ala)
c.584A>C (p.Asp195Ala)
c.422A>C (p.Asp141Ala)
c.647A>C (p.Asp216Ala)
c.797A>C (p.Asp266Ala)
c.407A>C (p.Asp136Ala)
c.-5A>C (n.-5A>C)
2g.206145009T=CA2496487411NDUFS1c.755A= (p.Asp252=)
c.584A= (p.Asp195=)
c.422A= (p.Asp141=)
c.647A= (p.Asp216=)
c.797A= (p.Asp266=)
c.407A= (p.Asp136=)
c.-5A= (n.-5A=)
2g.206145010C>ACA350057710NDUFS1c.754G>T (p.Asp252Tyr)
c.583G>T (p.Asp195Tyr)
c.421G>T (p.Asp141Tyr)
c.646G>T (p.Asp216Tyr)
c.796G>T (p.Asp266Tyr)
c.406G>T (p.Asp136Tyr)
c.-6G>T (n.-6G>T)
 dbSNP gnomAD v4
2g.206145010C=CA2496487412NDUFS1c.754G= (p.Asp252=)
c.583G= (p.Asp195=)
c.421G= (p.Asp141=)
c.646G= (p.Asp216=)
c.796G= (p.Asp266=)
c.406G= (p.Asp136=)
c.-6G= (n.-6G=)
2g.206145010C>GCA350057712NDUFS1c.754G>C (p.Asp252His)
c.583G>C (p.Asp195His)
c.421G>C (p.Asp141His)
c.646G>C (p.Asp216His)
c.796G>C (p.Asp266His)
c.406G>C (p.Asp136His)
c.-6G>C (n.-6G>C)
2g.206145010C>TCA350057715NDUFS1c.754G>A (p.Asp252Asn)
c.583G>A (p.Asp195Asn)
c.421G>A (p.Asp141Asn)
c.646G>A (p.Asp216Asn)
c.796G>A (p.Asp266Asn)
c.406G>A (p.Asp136Asn)
c.-6G>A (n.-6G>A)
 gnomAD v4
2g.206145011A>CCA350057719NDUFS1c.753T>G (p.Ile251Met)
c.582T>G (p.Ile194Met)
c.420T>G (p.Ile140Met)
c.645T>G (p.Ile215Met)
c.795T>G (p.Ile265Met)
c.405T>G (p.Ile135Met)
c.-7T>G (n.-7T>G)
2g.206145011A>GCA430953568NDUFS1c.753T>C (p.Ile251=)
c.582T>C (p.Ile194=)
c.420T>C (p.Ile140=)
c.645T>C (p.Ile215=)
c.795T>C (p.Ile265=)
c.405T>C (p.Ile135=)
c.-7T>C (n.-7T>C)
 gnomAD v4
2g.206145011A>TCA430953570NDUFS1c.753T>A (p.Ile251=)
c.582T>A (p.Ile194=)
c.420T>A (p.Ile140=)
c.645T>A (p.Ile215=)
c.795T>A (p.Ile265=)
c.405T>A (p.Ile135=)
c.-7T>A (n.-7T>A)
2g.206145012A=CA2496487413NDUFS1c.752T= (p.Ile251=)
c.581T= (p.Ile194=)
c.419T= (p.Ile140=)
c.644T= (p.Ile215=)
c.794T= (p.Ile265=)
c.404T= (p.Ile135=)
c.-8T= (n.-8T=)
2g.206145012A>CCA350057728NDUFS1c.752T>G (p.Ile251Ser)
c.581T>G (p.Ile194Ser)
c.419T>G (p.Ile140Ser)
c.644T>G (p.Ile215Ser)
c.794T>G (p.Ile265Ser)
c.404T>G (p.Ile135Ser)
c.-8T>G (n.-8T>G)
2g.206145012A>GCA2070661NDUFS1c.752T>C (p.Ile251Thr)
c.581T>C (p.Ile194Thr)
c.419T>C (p.Ile140Thr)
c.644T>C (p.Ile215Thr)
c.794T>C (p.Ile265Thr)
c.404T>C (p.Ile135Thr)
c.-8T>C (n.-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145012A>TCA350057723NDUFS1c.752T>A (p.Ile251Asn)
c.581T>A (p.Ile194Asn)
c.419T>A (p.Ile140Asn)
c.644T>A (p.Ile215Asn)
c.794T>A (p.Ile265Asn)
c.404T>A (p.Ile135Asn)
c.-8T>A (n.-8T>A)
2g.206145013T>ACA350057735NDUFS1c.751A>T (p.Ile251Phe)
c.580A>T (p.Ile194Phe)
c.418A>T (p.Ile140Phe)
c.643A>T (p.Ile215Phe)
c.793A>T (p.Ile265Phe)
c.403A>T (p.Ile135Phe)
c.-9A>T (n.-9A>T)
2g.206145013T>CCA350057737NDUFS1c.751A>G (p.Ile251Val)
c.580A>G (p.Ile194Val)
c.418A>G (p.Ile140Val)
c.643A>G (p.Ile215Val)
c.793A>G (p.Ile265Val)
c.403A>G (p.Ile135Val)
c.-9A>G (n.-9A>G)
2g.206145013T>GCA350057741NDUFS1c.751A>C (p.Ile251Leu)
c.580A>C (p.Ile194Leu)
c.418A>C (p.Ile140Leu)
c.643A>C (p.Ile215Leu)
c.793A>C (p.Ile265Leu)
c.403A>C (p.Ile135Leu)
c.-9A>C (n.-9A>C)
2g.206145014G>ACA430953579NDUFS1c.750C>T (p.Ser250=)
c.579C>T (p.Ser193=)
c.417C>T (p.Ser139=)
c.642C>T (p.Ser214=)
c.792C>T (p.Ser264=)
c.402C>T (p.Ser134=)
c.-10C>T (n.-10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206145014G>CCA430953580NDUFS1c.750C>G (p.Ser250=)
c.579C>G (p.Ser193=)
c.417C>G (p.Ser139=)
c.642C>G (p.Ser214=)
c.792C>G (p.Ser264=)
c.402C>G (p.Ser134=)
c.-10C>G (n.-10C>G)
 gnomAD v4
2g.206145014G=CA2496487414NDUFS1c.750C= (p.Ser250=)
c.579C= (p.Ser193=)
c.417C= (p.Ser139=)
c.642C= (p.Ser214=)
c.792C= (p.Ser264=)
c.402C= (p.Ser134=)
c.-10C= (n.-10C=)
2g.206145014G>TCA430953585NDUFS1c.750C>A (p.Ser250=)
c.579C>A (p.Ser193=)
c.417C>A (p.Ser139=)
c.642C>A (p.Ser214=)
c.792C>A (p.Ser264=)
c.402C>A (p.Ser134=)
c.-10C>A (n.-10C>A)
2g.206145015G>ACA350057745NDUFS1c.749C>T (p.Ser250Phe)
c.578C>T (p.Ser193Phe)
c.416C>T (p.Ser139Phe)
c.641C>T (p.Ser214Phe)
c.791C>T (p.Ser264Phe)
c.401C>T (p.Ser134Phe)
c.-11C>T (n.-11C>T)
2g.206145015G>CCA350057747NDUFS1c.749C>G (p.Ser250Cys)
c.578C>G (p.Ser193Cys)
c.416C>G (p.Ser139Cys)
c.641C>G (p.Ser214Cys)
c.791C>G (p.Ser264Cys)
c.401C>G (p.Ser134Cys)
c.-11C>G (n.-11C>G)
2g.206145015G>TCA350057751NDUFS1c.749C>A (p.Ser250Tyr)
c.578C>A (p.Ser193Tyr)
c.416C>A (p.Ser139Tyr)
c.641C>A (p.Ser214Tyr)
c.791C>A (p.Ser264Tyr)
c.401C>A (p.Ser134Tyr)
c.-11C>A (n.-11C>A)
2g.206145016A>CCA350057758NDUFS1c.748T>G (p.Ser250Ala)
c.577T>G (p.Ser193Ala)
c.415T>G (p.Ser139Ala)
c.640T>G (p.Ser214Ala)
c.790T>G (p.Ser264Ala)
c.400T>G (p.Ser134Ala)
c.-12T>G (n.-12T>G)
2g.206145016A>GCA350057754NDUFS1c.748T>C (p.Ser250Pro)
c.577T>C (p.Ser193Pro)
c.415T>C (p.Ser139Pro)
c.640T>C (p.Ser214Pro)
c.790T>C (p.Ser264Pro)
c.400T>C (p.Ser134Pro)
c.-12T>C (n.-12T>C)
2g.206145016A>TCA350057756NDUFS1c.748T>A (p.Ser250Thr)
c.577T>A (p.Ser193Thr)
c.415T>A (p.Ser139Thr)
c.640T>A (p.Ser214Thr)
c.790T>A (p.Ser264Thr)
c.400T>A (p.Ser134Thr)
c.-12T>A (n.-12T>A)
2g.206145017T>ACA350057761NDUFS1c.747A>T (p.Glu249Asp)
c.576A>T (p.Glu192Asp)
c.414A>T (p.Glu138Asp)
c.639A>T (p.Glu213Asp)
c.789A>T (p.Glu263Asp)
c.399A>T (p.Glu133Asp)
c.-13A>T (n.-13A>T)
2g.206145017T>CCA430953611NDUFS1c.747A>G (p.Glu249=)
c.576A>G (p.Glu192=)
c.414A>G (p.Glu138=)
c.639A>G (p.Glu213=)
c.789A>G (p.Glu263=)
c.399A>G (p.Glu133=)
c.-13A>G (n.-13A>G)
 gnomAD v4
2g.206145017T>GCA63665108NDUFS1c.747A>C (p.Glu249Asp)
c.576A>C (p.Glu192Asp)
c.414A>C (p.Glu138Asp)
c.639A>C (p.Glu213Asp)
c.789A>C (p.Glu263Asp)
c.399A>C (p.Glu133Asp)
c.-13A>C (n.-13A>C)
 dbSNP
2g.206145017T=CA2496487415NDUFS1c.747A= (p.Glu249=)
c.576A= (p.Glu192=)
c.414A= (p.Glu138=)
c.639A= (p.Glu213=)
c.789A= (p.Glu263=)
c.399A= (p.Glu133=)
c.-13A= (n.-13A=)
2g.206145018T>ACA350057767NDUFS1c.746A>T (p.Glu249Val)
c.575A>T (p.Glu192Val)
c.413A>T (p.Glu138Val)
c.638A>T (p.Glu213Val)
c.788A>T (p.Glu263Val)
c.398A>T (p.Glu133Val)
c.-14A>T (n.-14A>T)
2g.206145018T>CCA350057770NDUFS1c.746A>G (p.Glu249Gly)
c.575A>G (p.Glu192Gly)
c.413A>G (p.Glu138Gly)
c.638A>G (p.Glu213Gly)
c.788A>G (p.Glu263Gly)
c.398A>G (p.Glu133Gly)
c.-14A>G (n.-14A>G)
2g.206145018T>GCA350057774NDUFS1c.746A>C (p.Glu249Ala)
c.575A>C (p.Glu192Ala)
c.413A>C (p.Glu138Ala)
c.638A>C (p.Glu213Ala)
c.788A>C (p.Glu263Ala)
c.398A>C (p.Glu133Ala)
c.-14A>C (n.-14A>C)
2g.206145019C>ACA350057782NDUFS1c.745G>T (p.Glu249Ter)
c.574G>T (p.Glu192Ter)
c.412G>T (p.Glu138Ter)
c.637G>T (p.Glu213Ter)
c.787G>T (p.Glu263Ter)
c.397G>T (p.Glu133Ter)
c.-15G>T (n.-15G>T)
2g.206145019C=CA2496487416NDUFS1c.745G= (p.Glu249=)
c.574G= (p.Glu192=)
c.412G= (p.Glu138=)
c.637G= (p.Glu213=)
c.787G= (p.Glu263=)
c.397G= (p.Glu133=)
c.-15G= (n.-15G=)
2g.206145019C>GCA350057777NDUFS1c.745G>C (p.Glu249Gln)
c.574G>C (p.Glu192Gln)
c.412G>C (p.Glu138Gln)
c.637G>C (p.Glu213Gln)
c.787G>C (p.Glu263Gln)
c.397G>C (p.Glu133Gln)
c.-15G>C (n.-15G>C)
2g.206145019C>TCA350057780NDUFS1c.745G>A (p.Glu249Lys)
c.574G>A (p.Glu192Lys)
c.412G>A (p.Glu138Lys)
c.637G>A (p.Glu213Lys)
c.787G>A (p.Glu263Lys)
c.397G>A (p.Glu133Lys)
c.-15G>A (n.-15G>A)
 dbSNP gnomAD v2
2g.206145020T>ACA430953629NDUFS1c.744A>T (p.Thr248=)
c.573A>T (p.Thr191=)
c.411A>T (p.Thr137=)
c.636A>T (p.Thr212=)
c.786A>T (p.Thr262=)
c.396A>T (p.Thr132=)
c.-16A>T (n.-16A>T)
2g.206145020T>CCA2070662NDUFS1c.744A>G (p.Thr248=)
c.573A>G (p.Thr191=)
c.411A>G (p.Thr137=)
c.636A>G (p.Thr212=)
c.786A>G (p.Thr262=)
c.396A>G (p.Thr132=)
c.-16A>G (n.-16A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145020T>GCA430953635NDUFS1c.744A>C (p.Thr248=)
c.573A>C (p.Thr191=)
c.411A>C (p.Thr137=)
c.636A>C (p.Thr212=)
c.786A>C (p.Thr262=)
c.396A>C (p.Thr132=)
c.-16A>C (n.-16A>C)
2g.206145020T=CA2496487417NDUFS1c.744A= (p.Thr248=)
c.573A= (p.Thr191=)
c.411A= (p.Thr137=)
c.636A= (p.Thr212=)
c.786A= (p.Thr262=)
c.396A= (p.Thr132=)
c.-16A= (n.-16A=)
2g.206145021delCA2662803918NDUFS1c.743del (p.Thr248LysfsTer6)
c.572del (p.Thr191LysfsTer6)
c.410del (p.Thr137LysfsTer6)
c.635del (p.Thr212LysfsTer6)
c.785del (p.Thr262LysfsTer6)
c.395del (p.Thr132LysfsTer6)
c.-17del (n.-17del)
 gnomAD v4
2g.206145021G>ACA350057783NDUFS1c.743C>T (p.Thr248Ile)
c.572C>T (p.Thr191Ile)
c.410C>T (p.Thr137Ile)
c.635C>T (p.Thr212Ile)
c.785C>T (p.Thr262Ile)
c.395C>T (p.Thr132Ile)
c.-17C>T (n.-17C>T)
2g.206145021G>CCA350057784NDUFS1c.743C>G (p.Thr248Arg)
c.572C>G (p.Thr191Arg)
c.410C>G (p.Thr137Arg)
c.635C>G (p.Thr212Arg)
c.785C>G (p.Thr262Arg)
c.395C>G (p.Thr132Arg)
c.-17C>G (n.-17C>G)
2g.206145021G>TCA350057787NDUFS1c.743C>A (p.Thr248Lys)
c.572C>A (p.Thr191Lys)
c.410C>A (p.Thr137Lys)
c.635C>A (p.Thr212Lys)
c.785C>A (p.Thr262Lys)
c.395C>A (p.Thr132Lys)
c.-17C>A (n.-17C>A)
2g.206145022T>ACA350057790NDUFS1c.742A>T (p.Thr248Ser)
c.571A>T (p.Thr191Ser)
c.409A>T (p.Thr137Ser)
c.634A>T (p.Thr212Ser)
c.784A>T (p.Thr262Ser)
c.394A>T (p.Thr132Ser)
c.-18A>T (n.-18A>T)
2g.206145022T>CCA350057792NDUFS1c.742A>G (p.Thr248Ala)
c.571A>G (p.Thr191Ala)
c.409A>G (p.Thr137Ala)
c.634A>G (p.Thr212Ala)
c.784A>G (p.Thr262Ala)
c.394A>G (p.Thr132Ala)
c.-18A>G (n.-18A>G)
 gnomAD v4
2g.206145022T>GCA350057795NDUFS1c.742A>C (p.Thr248Pro)
c.571A>C (p.Thr191Pro)
c.409A>C (p.Thr137Pro)
c.634A>C (p.Thr212Pro)
c.784A>C (p.Thr262Pro)
c.394A>C (p.Thr132Pro)
c.-18A>C (n.-18A>C)
2g.206145025_206145028delCA2662803920NDUFS1c.739_742del
c.568_571del
c.406_409del
c.631_634del
c.781_784del
c.391_394del
c.-21_-18del (n.-21_-18del)
 gnomAD v4
2g.206145023C>ACA350057799NDUFS1c.741G>T (p.Lys247Asn)
c.570G>T (p.Lys190Asn)
c.408G>T (p.Lys136Asn)
c.633G>T (p.Lys211Asn)
c.783G>T (p.Lys261Asn)
c.393G>T (p.Lys131Asn)
c.-19G>T (n.-19G>T)
2g.206145023C=CA2496487418NDUFS1c.741G= (p.Lys247=)
c.570G= (p.Lys190=)
c.408G= (p.Lys136=)
c.633G= (p.Lys211=)
c.783G= (p.Lys261=)
c.393G= (p.Lys131=)
c.-19G= (n.-19G=)
2g.206145023C>GCA350057804NDUFS1c.741G>C (p.Lys247Asn)
c.570G>C (p.Lys190Asn)
c.408G>C (p.Lys136Asn)
c.633G>C (p.Lys211Asn)
c.783G>C (p.Lys261Asn)
c.393G>C (p.Lys131Asn)
c.-19G>C (n.-19G>C)
 dbSNP
2g.206145023C>TCA2070663NDUFS1c.741G>A (p.Lys247=)
c.570G>A (p.Lys190=)
c.408G>A (p.Lys136=)
c.633G>A (p.Lys211=)
c.783G>A (p.Lys261=)
c.393G>A (p.Lys131=)
c.-19G>A (n.-19G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206145024T>ACA350057810NDUFS1c.740A>T (p.Lys247Met)
c.569A>T (p.Lys190Met)
c.407A>T (p.Lys136Met)
c.632A>T (p.Lys211Met)
c.782A>T (p.Lys261Met)
c.392A>T (p.Lys131Met)
c.-20A>T (n.-20A>T)
2g.206145024T>CCA350057817NDUFS1c.740A>G (p.Lys247Arg)
c.569A>G (p.Lys190Arg)
c.407A>G (p.Lys136Arg)
c.632A>G (p.Lys211Arg)
c.782A>G (p.Lys261Arg)
c.392A>G (p.Lys131Arg)
c.-20A>G (n.-20A>G)
2g.206145024T>GCA350057821NDUFS1c.740A>C (p.Lys247Thr)
c.569A>C (p.Lys190Thr)
c.407A>C (p.Lys136Thr)
c.632A>C (p.Lys211Thr)
c.782A>C (p.Lys261Thr)
c.392A>C (p.Lys131Thr)
c.-20A>C (n.-20A>C)
 dbSNP
2g.206145024T=CA2496487419NDUFS1c.740A= (p.Lys247=)
c.569A= (p.Lys190=)
c.407A= (p.Lys136=)
c.632A= (p.Lys211=)
c.782A= (p.Lys261=)
c.392A= (p.Lys131=)
c.-20A= (n.-20A=)
2g.206145025T>ACA350057822NDUFS1c.739A>T (p.Lys247Ter)
c.568A>T (p.Lys190Ter)
c.406A>T (p.Lys136Ter)
c.631A>T (p.Lys211Ter)
c.781A>T (p.Lys261Ter)
c.391A>T (p.Lys131Ter)
c.-21A>T (n.-21A>T)
2g.206145025T>CCA350057824NDUFS1c.739A>G (p.Lys247Glu)
c.568A>G (p.Lys190Glu)
c.406A>G (p.Lys136Glu)
c.631A>G (p.Lys211Glu)
c.781A>G (p.Lys261Glu)
c.391A>G (p.Lys131Glu)
c.-21A>G (n.-21A>G)
 gnomAD v4
2g.206145025T>GCA350057823NDUFS1c.739A>C (p.Lys247Gln)
c.568A>C (p.Lys190Gln)
c.406A>C (p.Lys136Gln)
c.631A>C (p.Lys211Gln)
c.781A>C (p.Lys261Gln)
c.391A>C (p.Lys131Gln)
c.-21A>C (n.-21A>C)
2g.206145026T>ACA350057826NDUFS1c.738A>T (p.Arg246Ser)
c.567A>T (p.Arg189Ser)
c.405A>T (p.Arg135Ser)
c.630A>T (p.Arg210Ser)
c.780A>T (p.Arg260Ser)
c.390A>T (p.Arg130Ser)
c.-22A>T (n.-22A>T)
2g.206145026T>CCA430953663NDUFS1c.738A>G (p.Arg246=)
c.567A>G (p.Arg189=)
c.405A>G (p.Arg135=)
c.630A>G (p.Arg210=)
c.780A>G (p.Arg260=)
c.390A>G (p.Arg130=)
c.-22A>G (n.-22A>G)
 dbSNP
2g.206145026T>GCA350057827NDUFS1c.738A>C (p.Arg246Ser)
c.567A>C (p.Arg189Ser)
c.405A>C (p.Arg135Ser)
c.630A>C (p.Arg210Ser)
c.780A>C (p.Arg260Ser)
c.390A>C (p.Arg130Ser)
c.-22A>C (n.-22A>C)
2g.206145026T=CA2496487420NDUFS1c.738A= (p.Arg246=)
c.567A= (p.Arg189=)
c.405A= (p.Arg135=)
c.630A= (p.Arg210=)
c.780A= (p.Arg260=)
c.390A= (p.Arg130=)
c.-22A= (n.-22A=)
2g.206145027C>ACA350057831NDUFS1c.738-1G>T (n.738-1G>T)
c.567-1G>T (n.567-1G>T)
c.405-1G>T (n.405-1G>T)
c.630-1G>T (n.630-1G>T)
c.780-1G>T (n.780-1G>T)
c.390-1G>T (n.390-1G>T)
c.-23G>T (n.-23G>T)
2g.206145027C>GCA350057835NDUFS1c.738-1G>C (n.738-1G>C)
c.567-1G>C (n.567-1G>C)
c.405-1G>C (n.405-1G>C)
c.630-1G>C (n.630-1G>C)
c.780-1G>C (n.780-1G>C)
c.390-1G>C (n.390-1G>C)
c.-23G>C (n.-23G>C)
2g.206145027C>TCA350057839NDUFS1c.738-1G>A (n.738-1G>A)
c.567-1G>A (n.567-1G>A)
c.405-1G>A (n.405-1G>A)
c.630-1G>A (n.630-1G>A)
c.780-1G>A (n.780-1G>A)
c.390-1G>A (n.390-1G>A)
c.-23G>A (n.-23G>A)
2g.206145028T>ACA350057844NDUFS1c.738-2A>T (n.738-2A>T)
c.567-2A>T (n.567-2A>T)
c.405-2A>T (n.405-2A>T)
c.630-2A>T (n.630-2A>T)
c.780-2A>T (n.780-2A>T)
c.390-2A>T (n.390-2A>T)
c.-24A>T (n.-24A>T)
2g.206145028T>CCA350057846NDUFS1c.738-2A>G (n.738-2A>G)
c.567-2A>G (n.567-2A>G)
c.405-2A>G (n.405-2A>G)
c.630-2A>G (n.630-2A>G)
c.780-2A>G (n.780-2A>G)
c.390-2A>G (n.390-2A>G)
c.-24A>G (n.-24A>G)
2g.206145028T>GCA350057849NDUFS1c.738-2A>C (n.738-2A>C)
c.567-2A>C (n.567-2A>C)
c.405-2A>C (n.405-2A>C)
c.630-2A>C (n.630-2A>C)
c.780-2A>C (n.780-2A>C)
c.390-2A>C (n.390-2A>C)
c.-24A>C (n.-24A>C)
2g.206145028_206145029insTGTTTCCCAAGGCCGGGCACA2662803929NDUFS1c.738-3_738-2insTGCCCGGCCTTGGGAAACA (n.738-3_738-2insTGCCCGGCCTTGGGAAACA)
c.567-3_567-2insTGCCCGGCCTTGGGAAACA (n.567-3_567-2insTGCCCGGCCTTGGGAAACA)
c.405-3_405-2insTGCCCGGCCTTGGGAAACA (n.405-3_405-2insTGCCCGGCCTTGGGAAACA)
c.630-3_630-2insTGCCCGGCCTTGGGAAACA (n.630-3_630-2insTGCCCGGCCTTGGGAAACA)
c.780-3_780-2insTGCCCGGCCTTGGGAAACA (n.780-3_780-2insTGCCCGGCCTTGGGAAACA)
c.390-3_390-2insTGCCCGGCCTTGGGAAACA (n.390-3_390-2insTGCCCGGCCTTGGGAAACA)
c.-25_-24insTGCCCGGCCTTGGGAAACA (n.-25_-24insTGCCCGGCCTTGGGAAACA)
 gnomAD v4
2g.206145028_206145029insTGTTTCCCAAGGCCGGGCAGTAAAGGCATAGCA2701469755NDUFS1c.738-3_738-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.738-3_738-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.567-3_567-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.567-3_567-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.405-3_405-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.405-3_405-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.630-3_630-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.630-3_630-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.780-3_780-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.780-3_780-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.390-3_390-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.390-3_390-2insCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.-25_-24insCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.-25_-24insCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
 dbSNP
2g.206145028_206145029insTGTTTCCCAAGGCCGGGCAGTAAAGGCATAGGGCTTACA2662803928NDUFS1c.738-3_738-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.738-3_738-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.567-3_567-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.567-3_567-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.405-3_405-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.405-3_405-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.630-3_630-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.630-3_630-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.780-3_780-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.780-3_780-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.390-3_390-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.390-3_390-2insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.-25_-24insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.-25_-24insTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
 gnomAD v4
2g.206145028_206145029insTGTTTCCCAAGGCCGGGCAGTAAAGGCATAGGGCTTAGAGGTTACA2662803930NDUFS1c.738-3_738-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.738-3_738-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.567-3_567-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.567-3_567-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.405-3_405-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.405-3_405-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.630-3_630-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.630-3_630-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.780-3_780-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.780-3_780-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.390-3_390-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.390-3_390-2insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.-25_-24insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.-25_-24insTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
 gnomAD v4
2g.206145028_206145029insTGTTTCCCAAGGCCGGGCAGTAAAGGCATAGGGCTTAGAGGTTAGGGCACCTACAGGGCAGATATCAATGATATTCCCAGACACA1041598535NDUFS1c.738-3_738-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.738-3_738-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.567-3_567-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.567-3_567-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.405-3_405-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.405-3_405-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.630-3_630-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.630-3_630-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.780-3_780-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.780-3_780-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.390-3_390-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.390-3_390-2insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
c.-25_-24insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA (n.-25_-24insTGTCTGGGAATATCATTGATATCTGCCCTGTAGGTGCCCTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACA)
 gnomAD v3 gnomAD v4
2g.206145029G>ACA2753997168NDUFS1c.738-3C>T (n.738-3C>T)
c.567-3C>T (n.567-3C>T)
c.405-3C>T (n.405-3C>T)
c.630-3C>T (n.630-3C>T)
c.780-3C>T (n.780-3C>T)
c.390-3C>T (n.390-3C>T)
c.-25C>T (n.-25C>T)
2g.206145029G>CCA2577222179NDUFS1c.738-3C>G (n.738-3C>G)
c.567-3C>G (n.567-3C>G)
c.405-3C>G (n.405-3C>G)
c.630-3C>G (n.630-3C>G)
c.780-3C>G (n.780-3C>G)
c.390-3C>G (n.390-3C>G)
c.-25C>G (n.-25C>G)
 gnomAD v4
2g.206145031_206145032delCA2577222177NDUFS1c.738-4_738-3del (n.738-4_738-3del)
c.567-4_567-3del (n.567-4_567-3del)
c.405-4_405-3del (n.405-4_405-3del)
c.630-4_630-3del (n.630-4_630-3del)
c.780-4_780-3del (n.780-4_780-3del)
c.390-4_390-3del (n.390-4_390-3del)
c.-26_-25del (n.-26_-25del)
2g.206145031G>TCA2662803932NDUFS1c.738-5C>A (n.738-5C>A)
c.567-5C>A (n.567-5C>A)
c.405-5C>A (n.405-5C>A)
c.630-5C>A (n.630-5C>A)
c.780-5C>A (n.780-5C>A)
c.390-5C>A (n.390-5C>A)
c.-27C>A (n.-27C>A)
 gnomAD v4
2g.206145033A>TCA2662803933NDUFS1c.738-7T>A (n.738-7T>A)
c.567-7T>A (n.567-7T>A)
c.405-7T>A (n.405-7T>A)
c.630-7T>A (n.630-7T>A)
c.780-7T>A (n.780-7T>A)
c.390-7T>A (n.390-7T>A)
c.-29T>A (n.-29T>A)
 gnomAD v4
2g.206145034A=CA2496487421NDUFS1c.738-8T= (n.738-8T=)
c.567-8T= (n.567-8T=)
c.405-8T= (n.405-8T=)
c.630-8T= (n.630-8T=)
c.780-8T= (n.780-8T=)
c.390-8T= (n.390-8T=)
c.-30T= (n.-30T=)
2g.206145034A>GCA2496487422NDUFS1c.738-8T>C (n.738-8T>C)
c.567-8T>C (n.567-8T>C)
c.405-8T>C (n.405-8T>C)
c.630-8T>C (n.630-8T>C)
c.780-8T>C (n.780-8T>C)
c.390-8T>C (n.390-8T>C)
c.-30T>C (n.-30T>C)
 dbSNP
2g.206145039T>CCA2070665NDUFS1c.738-13A>G (n.738-13A>G)
c.567-13A>G (n.567-13A>G)
c.405-13A>G (n.405-13A>G)
c.630-13A>G (n.630-13A>G)
c.780-13A>G (n.780-13A>G)
c.390-13A>G (n.390-13A>G)
c.-35A>G (n.-35A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145039T=CA2496487423NDUFS1c.738-13A= (n.738-13A=)
c.567-13A= (n.567-13A=)
c.405-13A= (n.405-13A=)
c.630-13A= (n.630-13A=)
c.780-13A= (n.780-13A=)
c.390-13A= (n.390-13A=)
c.-35A= (n.-35A=)
2g.206145041_206145042insAACCA2070664NDUFS1c.738-14_738-13insTGT (n.738-14_738-13insTGT)
c.567-14_567-13insTGT (n.567-14_567-13insTGT)
c.405-14_405-13insTGT (n.405-14_405-13insTGT)
c.630-14_630-13insTGT (n.630-14_630-13insTGT)
c.780-14_780-13insTGT (n.780-14_780-13insTGT)
c.390-14_390-13insTGT (n.390-14_390-13insTGT)
c.-36_-35insTGT (n.-36_-35insTGT)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206145041C=CA2496487424NDUFS1c.738-15G= (n.738-15G=)
c.567-15G= (n.567-15G=)
c.405-15G= (n.405-15G=)
c.630-15G= (n.630-15G=)
c.780-15G= (n.780-15G=)
c.390-15G= (n.390-15G=)
c.-37G= (n.-37G=)
2g.206145041C>TCA2070666NDUFS1c.738-15G>A (n.738-15G>A)
c.567-15G>A (n.567-15G>A)
c.405-15G>A (n.405-15G>A)
c.630-15G>A (n.630-15G>A)
c.780-15G>A (n.780-15G>A)
c.390-15G>A (n.390-15G>A)
c.-37G>A (n.-37G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145042G>ACA2070667NDUFS1c.738-16C>T (n.738-16C>T)
c.567-16C>T (n.567-16C>T)
c.405-16C>T (n.405-16C>T)
c.630-16C>T (n.630-16C>T)
c.780-16C>T (n.780-16C>T)
c.390-16C>T (n.390-16C>T)
c.-38C>T (n.-38C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145042G=CA2496487425NDUFS1c.738-16C= (n.738-16C=)
c.567-16C= (n.567-16C=)
c.405-16C= (n.405-16C=)
c.630-16C= (n.630-16C=)
c.780-16C= (n.780-16C=)
c.390-16C= (n.390-16C=)
c.-38C= (n.-38C=)
2g.206145043G>ACA2070668NDUFS1c.738-17C>T (n.738-17C>T)
c.567-17C>T (n.567-17C>T)
c.405-17C>T (n.405-17C>T)
c.630-17C>T (n.630-17C>T)
c.780-17C>T (n.780-17C>T)
c.390-17C>T (n.390-17C>T)
c.-39C>T (n.-39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206145043G=CA2496487426NDUFS1c.738-17C= (n.738-17C=)
c.567-17C= (n.567-17C=)
c.405-17C= (n.405-17C=)
c.630-17C= (n.630-17C=)
c.780-17C= (n.780-17C=)
c.390-17C= (n.390-17C=)
c.-39C= (n.-39C=)
2g.206145043G>TCA2753997169NDUFS1c.738-17C>A (n.738-17C>A)
c.567-17C>A (n.567-17C>A)
c.405-17C>A (n.405-17C>A)
c.630-17C>A (n.630-17C>A)
c.780-17C>A (n.780-17C>A)
c.390-17C>A (n.390-17C>A)
c.-39C>A (n.-39C>A)
2g.206145044T>CCA2070669NDUFS1c.738-18A>G (n.738-18A>G)
c.567-18A>G (n.567-18A>G)
c.405-18A>G (n.405-18A>G)
c.630-18A>G (n.630-18A>G)
c.780-18A>G (n.780-18A>G)
c.390-18A>G (n.390-18A>G)
c.-40A>G (n.-40A>G)
 dbSNP ExAC
2g.206145044T=CA2496487427NDUFS1c.738-18A= (n.738-18A=)
c.567-18A= (n.567-18A=)
c.405-18A= (n.405-18A=)
c.630-18A= (n.630-18A=)
c.780-18A= (n.780-18A=)
c.390-18A= (n.390-18A=)
c.-40A= (n.-40A=)
2g.206145045G>ACA2662803943NDUFS1c.738-19C>T (n.738-19C>T)
c.567-19C>T (n.567-19C>T)
c.405-19C>T (n.405-19C>T)
c.630-19C>T (n.630-19C>T)
c.780-19C>T (n.780-19C>T)
c.390-19C>T (n.390-19C>T)
c.-41C>T (n.-41C>T)
 gnomAD v4
2g.206145045G>TCA2662803944NDUFS1c.738-19C>A (n.738-19C>A)
c.567-19C>A (n.567-19C>A)
c.405-19C>A (n.405-19C>A)
c.630-19C>A (n.630-19C>A)
c.780-19C>A (n.780-19C>A)
c.390-19C>A (n.390-19C>A)
c.-41C>A (n.-41C>A)
 gnomAD v4
2g.206145046T>ACA2070671NDUFS1c.738-20A>T (n.738-20A>T)
c.567-20A>T (n.567-20A>T)
c.405-20A>T (n.405-20A>T)
c.630-20A>T (n.630-20A>T)
c.780-20A>T (n.780-20A>T)
c.390-20A>T (n.390-20A>T)
c.-42A>T (n.-42A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145046T>CCA2070670NDUFS1c.738-20A>G (n.738-20A>G)
c.567-20A>G (n.567-20A>G)
c.405-20A>G (n.405-20A>G)
c.630-20A>G (n.630-20A>G)
c.780-20A>G (n.780-20A>G)
c.390-20A>G (n.390-20A>G)
c.-42A>G (n.-42A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145046T=CA2496487428NDUFS1c.738-20A= (n.738-20A=)
c.567-20A= (n.567-20A=)
c.405-20A= (n.405-20A=)
c.630-20A= (n.630-20A=)
c.780-20A= (n.780-20A=)
c.390-20A= (n.390-20A=)
c.-42A= (n.-42A=)
2g.206145050C=CA2496487429NDUFS1c.738-24G= (n.738-24G=)
c.567-24G= (n.567-24G=)
c.405-24G= (n.405-24G=)
c.630-24G= (n.630-24G=)
c.780-24G= (n.780-24G=)
c.390-24G= (n.390-24G=)
c.-46G= (n.-46G=)
2g.206145050C>TCA539058183NDUFS1c.738-24G>A (n.738-24G>A)
c.567-24G>A (n.567-24G>A)
c.405-24G>A (n.405-24G>A)
c.630-24G>A (n.630-24G>A)
c.780-24G>A (n.780-24G>A)
c.390-24G>A (n.390-24G>A)
c.-46G>A (n.-46G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.206145050_206145138delCA2070672NDUFS1c.738-112_738-24del (n.738-112_738-24del)
c.567-112_567-24del (n.567-112_567-24del)
c.405-112_405-24del (n.405-112_405-24del)
c.630-112_630-24del (n.630-112_630-24del)
c.780-112_780-24del (n.780-112_780-24del)
c.390-112_390-24del (n.390-112_390-24del)
c.-53-81_-46del
 ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145051T>CCA2070673NDUFS1c.738-25A>G (n.738-25A>G)
c.567-25A>G (n.567-25A>G)
c.405-25A>G (n.405-25A>G)
c.630-25A>G (n.630-25A>G)
c.780-25A>G (n.780-25A>G)
c.390-25A>G (n.390-25A>G)
c.-47A>G (n.-47A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206145051T=CA2496487430NDUFS1c.738-25A= (n.738-25A=)
c.567-25A= (n.567-25A=)
c.405-25A= (n.405-25A=)
c.630-25A= (n.630-25A=)
c.780-25A= (n.780-25A=)
c.390-25A= (n.390-25A=)
c.-47A= (n.-47A=)
2g.206145053T>ACA2070675NDUFS1c.738-27A>T (n.738-27A>T)
c.567-27A>T (n.567-27A>T)
c.405-27A>T (n.405-27A>T)
c.630-27A>T (n.630-27A>T)
c.780-27A>T (n.780-27A>T)
c.390-27A>T (n.390-27A>T)
c.-49A>T (n.-49A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206145053T>CCA2070674NDUFS1c.738-27A>G (n.738-27A>G)
c.567-27A>G (n.567-27A>G)
c.405-27A>G (n.405-27A>G)
c.630-27A>G (n.630-27A>G)
c.780-27A>G (n.780-27A>G)
c.390-27A>G (n.390-27A>G)
c.-49A>G (n.-49A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145053T=CA2496487431NDUFS1c.738-27A= (n.738-27A=)
c.567-27A= (n.567-27A=)
c.405-27A= (n.405-27A=)
c.630-27A= (n.630-27A=)
c.780-27A= (n.780-27A=)
c.390-27A= (n.390-27A=)
c.-49A= (n.-49A=)
2g.206145053_206145054insACCA2753997170NDUFS1c.738-28_738-27insGT (n.738-28_738-27insGT)
c.567-28_567-27insGT (n.567-28_567-27insGT)
c.405-28_405-27insGT (n.405-28_405-27insGT)
c.630-28_630-27insGT (n.630-28_630-27insGT)
c.780-28_780-27insGT (n.780-28_780-27insGT)
c.390-28_390-27insGT (n.390-28_390-27insGT)
c.-50_-49insGT (n.-50_-49insGT)
2g.206145054G=CA2496487432NDUFS1c.738-28C= (n.738-28C=)
c.567-28C= (n.567-28C=)
c.405-28C= (n.405-28C=)
c.630-28C= (n.630-28C=)
c.780-28C= (n.780-28C=)
c.390-28C= (n.390-28C=)
c.-50C= (n.-50C=)
2g.206145054G>TCA2070676NDUFS1c.738-28C>A (n.738-28C>A)
c.567-28C>A (n.567-28C>A)
c.405-28C>A (n.405-28C>A)
c.630-28C>A (n.630-28C>A)
c.780-28C>A (n.780-28C>A)
c.390-28C>A (n.390-28C>A)
c.-50C>A (n.-50C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206145055G>ACA63665186NDUFS1c.738-29C>T (n.738-29C>T)
c.567-29C>T (n.567-29C>T)
c.405-29C>T (n.405-29C>T)
c.630-29C>T (n.630-29C>T)
c.780-29C>T (n.780-29C>T)
c.390-29C>T (n.390-29C>T)
c.-51C>T (n.-51C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.206145055G=CA2496487433NDUFS1c.738-29C= (n.738-29C=)
c.567-29C= (n.567-29C=)
c.405-29C= (n.405-29C=)
c.630-29C= (n.630-29C=)
c.780-29C= (n.780-29C=)
c.390-29C= (n.390-29C=)
c.-51C= (n.-51C=)
2g.206145056T>CCA2496487435NDUFS1c.738-30A>G (n.738-30A>G)
c.567-30A>G (n.567-30A>G)
c.405-30A>G (n.405-30A>G)
c.630-30A>G (n.630-30A>G)
c.780-30A>G (n.780-30A>G)
c.390-30A>G (n.390-30A>G)
c.-52A>G (n.-52A>G)
 dbSNP gnomAD v4
2g.206145056T=CA2496487434NDUFS1c.738-30A= (n.738-30A=)
c.567-30A= (n.567-30A=)
c.405-30A= (n.405-30A=)
c.630-30A= (n.630-30A=)
c.780-30A= (n.780-30A=)
c.390-30A= (n.390-30A=)
c.-52A= (n.-52A=)
2g.206145057G>TCA2577222187NDUFS1c.738-31C>A (n.738-31C>A)
c.567-31C>A (n.567-31C>A)
c.405-31C>A (n.405-31C>A)
c.630-31C>A (n.630-31C>A)
c.780-31C>A (n.780-31C>A)
c.390-31C>A (n.390-31C>A)
c.-53C>A (n.-53C>A)
 gnomAD v4
2g.206145058C=CA2496487436NDUFS1c.738-32G= (n.738-32G=)
c.567-32G= (n.567-32G=)
c.405-32G= (n.405-32G=)
c.630-32G= (n.630-32G=)
c.780-32G= (n.780-32G=)
c.390-32G= (n.390-32G=)
c.-53-1G= (n.-53-1G=)
2g.206145058C>TCA763756198NDUFS1c.738-32G>A (n.738-32G>A)
c.567-32G>A (n.567-32G>A)
c.405-32G>A (n.405-32G>A)
c.630-32G>A (n.630-32G>A)
c.780-32G>A (n.780-32G>A)
c.390-32G>A (n.390-32G>A)
c.-53-1G>A (n.-53-1G>A)
 dbSNP gnomAD v4
2g.206145058_206145059insAGACA2753997171NDUFS1c.738-33_738-32insTCT (n.738-33_738-32insTCT)
c.567-33_567-32insTCT (n.567-33_567-32insTCT)
c.405-33_405-32insTCT (n.405-33_405-32insTCT)
c.630-33_630-32insTCT (n.630-33_630-32insTCT)
c.780-33_780-32insTCT (n.780-33_780-32insTCT)
c.390-33_390-32insTCT (n.390-33_390-32insTCT)
c.-53-2_-53-1insTCT (n.-53-2_-53-1insTCT)
2g.206145062delCA2662803974NDUFS1c.738-33del (n.738-33del)
c.567-33del (n.567-33del)
c.405-33del (n.405-33del)
c.630-33del (n.630-33del)
c.780-33del (n.780-33del)
c.390-33del (n.390-33del)
c.-53-2del (n.-53-2del)
 gnomAD v4
2g.206145061T>CCA2496487438NDUFS1c.738-35A>G (n.738-35A>G)
c.567-35A>G (n.567-35A>G)
c.405-35A>G (n.405-35A>G)
c.630-35A>G (n.630-35A>G)
c.780-35A>G (n.780-35A>G)
c.390-35A>G (n.390-35A>G)
c.-53-4A>G (n.-53-4A>G)
 dbSNP
2g.206145061T=CA2496487437NDUFS1c.738-35A= (n.738-35A=)
c.567-35A= (n.567-35A=)
c.405-35A= (n.405-35A=)
c.630-35A= (n.630-35A=)
c.780-35A= (n.780-35A=)
c.390-35A= (n.390-35A=)
c.-53-4A= (n.-53-4A=)
2g.206145061_206145062insACACA2753997172NDUFS1c.738-36_738-35insTGT (n.738-36_738-35insTGT)
c.567-36_567-35insTGT (n.567-36_567-35insTGT)
c.405-36_405-35insTGT (n.405-36_405-35insTGT)
c.630-36_630-35insTGT (n.630-36_630-35insTGT)
c.780-36_780-35insTGT (n.780-36_780-35insTGT)
c.390-36_390-35insTGT (n.390-36_390-35insTGT)
c.-53-5_-53-4insTGT (n.-53-5_-53-4insTGT)
2g.206145062T>GCA2662803976NDUFS1c.738-36A>C (n.738-36A>C)
c.567-36A>C (n.567-36A>C)
c.405-36A>C (n.405-36A>C)
c.630-36A>C (n.630-36A>C)
c.780-36A>C (n.780-36A>C)
c.390-36A>C (n.390-36A>C)
c.-53-5A>C (n.-53-5A>C)
 gnomAD v4
2g.206145062_206145063delinsTGCA2496487439NDUFS1c.738-37_738-36delinsCA (n.738-37_738-36delinsCA)
c.567-37_567-36delinsCA (n.567-37_567-36delinsCA)
c.405-37_405-36delinsCA (n.405-37_405-36delinsCA)
c.630-37_630-36delinsCA (n.630-37_630-36delinsCA)
c.780-37_780-36delinsCA (n.780-37_780-36delinsCA)
c.390-37_390-36delinsCA (n.390-37_390-36delinsCA)
c.-53-6_-53-5delinsCA (n.-53-6_-53-5delinsCA)
2g.206145063G>ACA2662803983NDUFS1c.738-37C>T (n.738-37C>T)
c.567-37C>T (n.567-37C>T)
c.405-37C>T (n.405-37C>T)
c.630-37C>T (n.630-37C>T)
c.780-37C>T (n.780-37C>T)
c.390-37C>T (n.390-37C>T)
c.-53-6C>T (n.-53-6C>T)
 gnomAD v4
2g.206145063G>TCA2662803986NDUFS1c.738-37C>A (n.738-37C>A)
c.567-37C>A (n.567-37C>A)
c.405-37C>A (n.405-37C>A)
c.630-37C>A (n.630-37C>A)
c.780-37C>A (n.780-37C>A)
c.390-37C>A (n.390-37C>A)
c.-53-6C>A (n.-53-6C>A)
 gnomAD v4
2g.206145063_206145065delCA2753997173NDUFS1c.738-39_738-37del (n.738-39_738-37del)
c.567-39_567-37del (n.567-39_567-37del)
c.405-39_405-37del (n.405-39_405-37del)
c.630-39_630-37del (n.630-39_630-37del)
c.780-39_780-37del (n.780-39_780-37del)
c.390-39_390-37del (n.390-39_390-37del)
c.-53-8_-53-6del (n.-53-8_-53-6del)
2g.206145065delCA2496487440NDUFS1c.738-37del (n.738-37del)
c.567-37del (n.567-37del)
c.405-37del (n.405-37del)
c.630-37del (n.630-37del)
c.780-37del (n.780-37del)
c.390-37del (n.390-37del)
c.-53-6del (n.-53-6del)
 dbSNP gnomAD v4
2g.206145064G>ACA2070677NDUFS1c.738-38C>T (n.738-38C>T)
c.567-38C>T (n.567-38C>T)
c.405-38C>T (n.405-38C>T)
c.630-38C>T (n.630-38C>T)
c.780-38C>T (n.780-38C>T)
c.390-38C>T (n.390-38C>T)
c.-53-7C>T (n.-53-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145064G=CA2496487441NDUFS1c.738-38C= (n.738-38C=)
c.567-38C= (n.567-38C=)
c.405-38C= (n.405-38C=)
c.630-38C= (n.630-38C=)
c.780-38C= (n.780-38C=)
c.390-38C= (n.390-38C=)
c.-53-7C= (n.-53-7C=)
2g.206145064G>TCA2662803992NDUFS1c.738-38C>A (n.738-38C>A)
c.567-38C>A (n.567-38C>A)
c.405-38C>A (n.405-38C>A)
c.630-38C>A (n.630-38C>A)
c.780-38C>A (n.780-38C>A)
c.390-38C>A (n.390-38C>A)
c.-53-7C>A (n.-53-7C>A)
 gnomAD v4
2g.206145065G>TCA2662803994NDUFS1c.738-39C>A (n.738-39C>A)
c.567-39C>A (n.567-39C>A)
c.405-39C>A (n.405-39C>A)
c.630-39C>A (n.630-39C>A)
c.780-39C>A (n.780-39C>A)
c.390-39C>A (n.390-39C>A)
c.-53-8C>A (n.-53-8C>A)
 gnomAD v4
2g.206145067A>CCA2753997174NDUFS1c.738-41T>G (n.738-41T>G)
c.567-41T>G (n.567-41T>G)
c.405-41T>G (n.405-41T>G)
c.630-41T>G (n.630-41T>G)
c.780-41T>G (n.780-41T>G)
c.390-41T>G (n.390-41T>G)
c.-53-10T>G (n.-53-10T>G)
2g.206145067A>GCA2662803997NDUFS1c.738-41T>C (n.738-41T>C)
c.567-41T>C (n.567-41T>C)
c.405-41T>C (n.405-41T>C)
c.630-41T>C (n.630-41T>C)
c.780-41T>C (n.780-41T>C)
c.390-41T>C (n.390-41T>C)
c.-53-10T>C (n.-53-10T>C)
 gnomAD v4
2g.206145068T>CCA2662803998NDUFS1c.738-42A>G (n.738-42A>G)
c.567-42A>G (n.567-42A>G)
c.405-42A>G (n.405-42A>G)
c.630-42A>G (n.630-42A>G)
c.780-42A>G (n.780-42A>G)
c.390-42A>G (n.390-42A>G)
c.-53-11A>G (n.-53-11A>G)
 gnomAD v4
2g.206145068_206145072delinsTAAAGCA2496487442NDUFS1c.738-46_738-42delinsCTTTA (n.738-46_738-42delinsCTTTA)
c.567-46_567-42delinsCTTTA (n.567-46_567-42delinsCTTTA)
c.405-46_405-42delinsCTTTA (n.405-46_405-42delinsCTTTA)
c.630-46_630-42delinsCTTTA (n.630-46_630-42delinsCTTTA)
c.780-46_780-42delinsCTTTA (n.780-46_780-42delinsCTTTA)
c.390-46_390-42delinsCTTTA (n.390-46_390-42delinsCTTTA)
c.-53-15_-53-11delinsCTTTA (n.-53-15_-53-11delinsCTTTA)
2g.206145071dupCA2753997175NDUFS1c.738-43dup (n.738-43dup)
c.567-43dup (n.567-43dup)
c.405-43dup (n.405-43dup)
c.630-43dup (n.630-43dup)
c.780-43dup (n.780-43dup)
c.390-43dup (n.390-43dup)
c.-53-12dup (n.-53-12dup)
2g.206145071delCA2662804001NDUFS1c.738-43del (n.738-43del)
c.567-43del (n.567-43del)
c.405-43del (n.405-43del)
c.630-43del (n.630-43del)
c.780-43del (n.780-43del)
c.390-43del (n.390-43del)
c.-53-12del (n.-53-12del)
 gnomAD v4
2g.206145073_206145076delCA2070678NDUFS1c.738-46_738-43del (n.738-46_738-43del)
c.567-46_567-43del (n.567-46_567-43del)
c.405-46_405-43del (n.405-46_405-43del)
c.630-46_630-43del (n.630-46_630-43del)
c.780-46_780-43del (n.780-46_780-43del)
c.390-46_390-43del (n.390-46_390-43del)
c.-53-15_-53-12del (n.-53-15_-53-12del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206145072G>ACA2753997176NDUFS1c.738-46C>T (n.738-46C>T)
c.567-46C>T (n.567-46C>T)
c.405-46C>T (n.405-46C>T)
c.630-46C>T (n.630-46C>T)
c.780-46C>T (n.780-46C>T)
c.390-46C>T (n.390-46C>T)
c.-53-15C>T (n.-53-15C>T)
2g.206145072G>CCA2753997177NDUFS1c.738-46C>G (n.738-46C>G)
c.567-46C>G (n.567-46C>G)
c.405-46C>G (n.405-46C>G)
c.630-46C>G (n.630-46C>G)
c.780-46C>G (n.780-46C>G)
c.390-46C>G (n.390-46C>G)
c.-53-15C>G (n.-53-15C>G)
2g.206145072G>TCA2662804004NDUFS1c.738-46C>A (n.738-46C>A)
c.567-46C>A (n.567-46C>A)
c.405-46C>A (n.405-46C>A)
c.630-46C>A (n.630-46C>A)
c.780-46C>A (n.780-46C>A)
c.390-46C>A (n.390-46C>A)
c.-53-15C>A (n.-53-15C>A)
 gnomAD v4
2g.206145072_206145073insCACA2662804006NDUFS1c.738-47_738-46insTG (n.738-47_738-46insTG)
c.567-47_567-46insTG (n.567-47_567-46insTG)
c.405-47_405-46insTG (n.405-47_405-46insTG)
c.630-47_630-46insTG (n.630-47_630-46insTG)
c.780-47_780-46insTG (n.780-47_780-46insTG)
c.390-47_390-46insTG (n.390-47_390-46insTG)
c.-53-16_-53-15insTG (n.-53-16_-53-15insTG)
 gnomAD v4
2g.206145073A=CA2496487443NDUFS1c.738-47T= (n.738-47T=)
c.567-47T= (n.567-47T=)
c.405-47T= (n.405-47T=)
c.630-47T= (n.630-47T=)
c.780-47T= (n.780-47T=)
c.390-47T= (n.390-47T=)
c.-53-16T= (n.-53-16T=)
2g.206145073A>GCA539058184NDUFS1c.738-47T>C (n.738-47T>C)
c.567-47T>C (n.567-47T>C)
c.405-47T>C (n.405-47T>C)
c.630-47T>C (n.630-47T>C)
c.780-47T>C (n.780-47T>C)
c.390-47T>C (n.390-47T>C)
c.-53-16T>C (n.-53-16T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206145073A>TCA539058185NDUFS1c.738-47T>A (n.738-47T>A)
c.567-47T>A (n.567-47T>A)
c.405-47T>A (n.405-47T>A)
c.630-47T>A (n.630-47T>A)
c.780-47T>A (n.780-47T>A)
c.390-47T>A (n.390-47T>A)
c.-53-16T>A (n.-53-16T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206145074A>GCA2662804011NDUFS1c.738-48T>C (n.738-48T>C)
c.567-48T>C (n.567-48T>C)
c.405-48T>C (n.405-48T>C)
c.630-48T>C (n.630-48T>C)
c.780-48T>C (n.780-48T>C)
c.390-48T>C (n.390-48T>C)
c.-53-17T>C (n.-53-17T>C)
 gnomAD v4
2g.206145074_206145077delCA2662804010NDUFS1c.738-51_738-48del (n.738-51_738-48del)
c.567-51_567-48del (n.567-51_567-48del)
c.405-51_405-48del (n.405-51_405-48del)
c.630-51_630-48del (n.630-51_630-48del)
c.780-51_780-48del (n.780-51_780-48del)
c.390-51_390-48del (n.390-51_390-48del)
c.-53-20_-53-17del (n.-53-20_-53-17del)
 gnomAD v4
2g.206145076G>CCA2496487445NDUFS1c.738-50C>G (n.738-50C>G)
c.567-50C>G (n.567-50C>G)
c.405-50C>G (n.405-50C>G)
c.630-50C>G (n.630-50C>G)
c.780-50C>G (n.780-50C>G)
c.390-50C>G (n.390-50C>G)
c.-53-19C>G (n.-53-19C>G)
 dbSNP
2g.206145076G=CA2496487444NDUFS1c.738-50C= (n.738-50C=)
c.567-50C= (n.567-50C=)
c.405-50C= (n.405-50C=)
c.630-50C= (n.630-50C=)
c.780-50C= (n.780-50C=)
c.390-50C= (n.390-50C=)
c.-53-19C= (n.-53-19C=)
2g.206145076G>TCA2662804012NDUFS1c.738-50C>A (n.738-50C>A)
c.567-50C>A (n.567-50C>A)
c.405-50C>A (n.405-50C>A)
c.630-50C>A (n.630-50C>A)
c.780-50C>A (n.780-50C>A)
c.390-50C>A (n.390-50C>A)
c.-53-19C>A (n.-53-19C>A)
 gnomAD v4
2g.206145077T>CCA2070679NDUFS1c.738-51A>G (n.738-51A>G)
c.567-51A>G (n.567-51A>G)
c.405-51A>G (n.405-51A>G)
c.630-51A>G (n.630-51A>G)
c.780-51A>G (n.780-51A>G)
c.390-51A>G (n.390-51A>G)
c.-53-20A>G (n.-53-20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206145077T=CA2496487446NDUFS1c.738-51A= (n.738-51A=)
c.567-51A= (n.567-51A=)
c.405-51A= (n.405-51A=)
c.630-51A= (n.630-51A=)
c.780-51A= (n.780-51A=)
c.390-51A= (n.390-51A=)
c.-53-20A= (n.-53-20A=)
2g.206145079delCA2662804014NDUFS1c.738-51del (n.738-51del)
c.567-51del (n.567-51del)
c.405-51del (n.405-51del)
c.630-51del (n.630-51del)
c.780-51del (n.780-51del)
c.390-51del (n.390-51del)
c.-53-20del (n.-53-20del)
 gnomAD v4
2g.206145078T>CCA2662804024NDUFS1c.738-52A>G (n.738-52A>G)
c.567-52A>G (n.567-52A>G)
c.405-52A>G (n.405-52A>G)
c.630-52A>G (n.630-52A>G)
c.780-52A>G (n.780-52A>G)
c.390-52A>G (n.390-52A>G)
c.-53-21A>G (n.-53-21A>G)
 gnomAD v4
2g.206145079T>CCA539058186NDUFS1c.738-53A>G (n.738-53A>G)
c.567-53A>G (n.567-53A>G)
c.405-53A>G (n.405-53A>G)
c.630-53A>G (n.630-53A>G)
c.780-53A>G (n.780-53A>G)
c.390-53A>G (n.390-53A>G)
c.-53-22A>G (n.-53-22A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.206145079T=CA2496487447NDUFS1c.738-53A= (n.738-53A=)
c.567-53A= (n.567-53A=)
c.405-53A= (n.405-53A=)
c.630-53A= (n.630-53A=)
c.780-53A= (n.780-53A=)
c.390-53A= (n.390-53A=)
c.-53-22A= (n.-53-22A=)
2g.206145080_206145081delCA2662804025NDUFS1c.738-54_738-53del (n.738-54_738-53del)
c.567-54_567-53del (n.567-54_567-53del)
c.405-54_405-53del (n.405-54_405-53del)
c.630-54_630-53del (n.630-54_630-53del)
c.780-54_780-53del (n.780-54_780-53del)
c.390-54_390-53del (n.390-54_390-53del)
c.-53-23_-53-22del (n.-53-23_-53-22del)
 gnomAD v4
2g.206145080C>ACA2543335862NDUFS1c.738-54G>T (n.738-54G>T)
c.567-54G>T (n.567-54G>T)
c.405-54G>T (n.405-54G>T)
c.630-54G>T (n.630-54G>T)
c.780-54G>T (n.780-54G>T)
c.390-54G>T (n.390-54G>T)
c.-53-23G>T (n.-53-23G>T)
2g.206145080_206145082delCA2662804028NDUFS1c.738-56_738-54del (n.738-56_738-54del)
c.567-56_567-54del (n.567-56_567-54del)
c.405-56_405-54del (n.405-56_405-54del)
c.630-56_630-54del (n.630-56_630-54del)
c.780-56_780-54del (n.780-56_780-54del)
c.390-56_390-54del (n.390-56_390-54del)
c.-53-25_-53-23del (n.-53-25_-53-23del)
 gnomAD v4
2g.206145081T>CCA2662804030NDUFS1c.738-55A>G (n.738-55A>G)
c.567-55A>G (n.567-55A>G)
c.405-55A>G (n.405-55A>G)
c.630-55A>G (n.630-55A>G)
c.780-55A>G (n.780-55A>G)
c.390-55A>G (n.390-55A>G)
c.-53-24A>G (n.-53-24A>G)
 gnomAD v4
2g.206145081_206145082insACA2753997178NDUFS1c.738-56_738-55insT (n.738-56_738-55insT)
c.567-56_567-55insT (n.567-56_567-55insT)
c.405-56_405-55insT (n.405-56_405-55insT)
c.630-56_630-55insT (n.630-56_630-55insT)
c.780-56_780-55insT (n.780-56_780-55insT)
c.390-56_390-55insT (n.390-56_390-55insT)
c.-53-25_-53-24insT (n.-53-25_-53-24insT)
2g.206145082G>TCA2662804032NDUFS1c.738-56C>A (n.738-56C>A)
c.567-56C>A (n.567-56C>A)
c.405-56C>A (n.405-56C>A)
c.630-56C>A (n.630-56C>A)
c.780-56C>A (n.780-56C>A)
c.390-56C>A (n.390-56C>A)
c.-53-25C>A (n.-53-25C>A)
 gnomAD v4
2g.206145082_206145097delCA2524839232NDUFS1c.738-71_738-56del (n.738-71_738-56del)
c.567-71_567-56del (n.567-71_567-56del)
c.405-71_405-56del (n.405-71_405-56del)
c.630-71_630-56del (n.630-71_630-56del)
c.780-71_780-56del (n.780-71_780-56del)
c.390-71_390-56del (n.390-71_390-56del)
c.-53-40_-53-25del (n.-53-40_-53-25del)
2g.206145083T>ACA2753997180NDUFS1c.738-57A>T (n.738-57A>T)
c.567-57A>T (n.567-57A>T)
c.405-57A>T (n.405-57A>T)
c.630-57A>T (n.630-57A>T)
c.780-57A>T (n.780-57A>T)
c.390-57A>T (n.390-57A>T)
c.-53-26A>T (n.-53-26A>T)
2g.206145084delCA2753997179NDUFS1c.738-57del (n.738-57del)
c.567-57del (n.567-57del)
c.405-57del (n.405-57del)
c.630-57del (n.630-57del)
c.780-57del (n.780-57del)
c.390-57del (n.390-57del)
c.-53-26del (n.-53-26del)
2g.206145083_206145084insAGACA2753997182NDUFS1c.738-58_738-57insTCT (n.738-58_738-57insTCT)
c.567-58_567-57insTCT (n.567-58_567-57insTCT)
c.405-58_405-57insTCT (n.405-58_405-57insTCT)
c.630-58_630-57insTCT (n.630-58_630-57insTCT)
c.780-58_780-57insTCT (n.780-58_780-57insTCT)
c.390-58_390-57insTCT (n.390-58_390-57insTCT)
c.-53-27_-53-26insTCT (n.-53-27_-53-26insTCT)
2g.206145084T>CCA2753997181NDUFS1c.738-58A>G (n.738-58A>G)
c.567-58A>G (n.567-58A>G)
c.405-58A>G (n.405-58A>G)
c.630-58A>G (n.630-58A>G)
c.780-58A>G (n.780-58A>G)
c.390-58A>G (n.390-58A>G)
c.-53-27A>G (n.-53-27A>G)
2g.206145085A>GCA2662804035NDUFS1c.738-59T>C (n.738-59T>C)
c.567-59T>C (n.567-59T>C)
c.405-59T>C (n.405-59T>C)
c.630-59T>C (n.630-59T>C)
c.780-59T>C (n.780-59T>C)
c.390-59T>C (n.390-59T>C)
c.-53-28T>C (n.-53-28T>C)
 gnomAD v4
2g.206145085_206145090delCA2662804034NDUFS1c.738-64_738-59del (n.738-64_738-59del)
c.567-64_567-59del (n.567-64_567-59del)
c.405-64_405-59del (n.405-64_405-59del)
c.630-64_630-59del (n.630-64_630-59del)
c.780-64_780-59del (n.780-64_780-59del)
c.390-64_390-59del (n.390-64_390-59del)
c.-53-33_-53-28del (n.-53-33_-53-28del)
 gnomAD v4
2g.206145086C>ACA2662804039NDUFS1c.738-60G>T (n.738-60G>T)
c.567-60G>T (n.567-60G>T)
c.405-60G>T (n.405-60G>T)
c.630-60G>T (n.630-60G>T)
c.780-60G>T (n.780-60G>T)
c.390-60G>T (n.390-60G>T)
c.-53-29G>T (n.-53-29G>T)
 gnomAD v4
2g.206145086_206145089delCA2753997184NDUFS1c.738-63_738-60del (n.738-63_738-60del)
c.567-63_567-60del (n.567-63_567-60del)
c.405-63_405-60del (n.405-63_405-60del)
c.630-63_630-60del (n.630-63_630-60del)
c.780-63_780-60del (n.780-63_780-60del)
c.390-63_390-60del (n.390-63_390-60del)
c.-53-32_-53-29del (n.-53-32_-53-29del)
2g.206145086_206145096delCA2753997185NDUFS1c.738-70_738-60del (n.738-70_738-60del)
c.567-70_567-60del (n.567-70_567-60del)
c.405-70_405-60del (n.405-70_405-60del)
c.630-70_630-60del (n.630-70_630-60del)
c.780-70_780-60del (n.780-70_780-60del)
c.390-70_390-60del (n.390-70_390-60del)
c.-53-39_-53-29del (n.-53-39_-53-29del)
2g.206145087_206145096delCA2662804038NDUFS1c.738-69_738-60del (n.738-69_738-60del)
c.567-69_567-60del (n.567-69_567-60del)
c.405-69_405-60del (n.405-69_405-60del)
c.630-69_630-60del (n.630-69_630-60del)
c.780-69_780-60del (n.780-69_780-60del)
c.390-69_390-60del (n.390-69_390-60del)
c.-53-38_-53-29del (n.-53-38_-53-29del)
 gnomAD v4

Number of alleles fetched