Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206144912delCA2662803883NDUFS1c.852del (p.Glu284AspfsTer14)
c.681del (p.Glu227AspfsTer14)
c.519del (p.Glu173AspfsTer14)
c.744del (p.Glu248AspfsTer14)
c.894del (p.Glu298AspfsTer14)
c.504del (p.Glu168AspfsTer14)
c.93del (p.Glu31AspfsTer14)
 gnomAD v4
2g.206144912C>ACA350056983NDUFS1c.852G>T (p.Glu284Asp)
c.681G>T (p.Glu227Asp)
c.519G>T (p.Glu173Asp)
c.744G>T (p.Glu248Asp)
c.894G>T (p.Glu298Asp)
c.504G>T (p.Glu168Asp)
c.93G>T (p.Glu31Asp)
2g.206144912C>GCA350056986NDUFS1c.852G>C (p.Glu284Asp)
c.681G>C (p.Glu227Asp)
c.519G>C (p.Glu173Asp)
c.744G>C (p.Glu248Asp)
c.894G>C (p.Glu298Asp)
c.504G>C (p.Glu168Asp)
c.93G>C (p.Glu31Asp)
2g.206144912C>TCA430952523NDUFS1c.852G>A (p.Glu284=)
c.681G>A (p.Glu227=)
c.519G>A (p.Glu173=)
c.744G>A (p.Glu248=)
c.894G>A (p.Glu298=)
c.504G>A (p.Glu168=)
c.93G>A (p.Glu31=)
2g.206144913T>ACA350056996NDUFS1c.851A>T (p.Glu284Val)
c.680A>T (p.Glu227Val)
c.518A>T (p.Glu173Val)
c.743A>T (p.Glu248Val)
c.893A>T (p.Glu298Val)
c.503A>T (p.Glu168Val)
c.92A>T (p.Glu31Val)
2g.206144913T>CCA350056992NDUFS1c.851A>G (p.Glu284Gly)
c.680A>G (p.Glu227Gly)
c.518A>G (p.Glu173Gly)
c.743A>G (p.Glu248Gly)
c.893A>G (p.Glu298Gly)
c.503A>G (p.Glu168Gly)
c.92A>G (p.Glu31Gly)
2g.206144913T>GCA350056993NDUFS1c.851A>C (p.Glu284Ala)
c.680A>C (p.Glu227Ala)
c.518A>C (p.Glu173Ala)
c.743A>C (p.Glu248Ala)
c.893A>C (p.Glu298Ala)
c.503A>C (p.Glu168Ala)
c.92A>C (p.Glu31Ala)
2g.206144914C>ACA350057001NDUFS1c.850G>T (p.Glu284Ter)
c.679G>T (p.Glu227Ter)
c.517G>T (p.Glu173Ter)
c.742G>T (p.Glu248Ter)
c.892G>T (p.Glu298Ter)
c.502G>T (p.Glu168Ter)
c.91G>T (p.Glu31Ter)
2g.206144914C>GCA350057004NDUFS1c.850G>C (p.Glu284Gln)
c.679G>C (p.Glu227Gln)
c.517G>C (p.Glu173Gln)
c.742G>C (p.Glu248Gln)
c.892G>C (p.Glu298Gln)
c.502G>C (p.Glu168Gln)
c.91G>C (p.Glu31Gln)
2g.206144914C>TCA350057006NDUFS1c.850G>A (p.Glu284Lys)
c.679G>A (p.Glu227Lys)
c.517G>A (p.Glu173Lys)
c.742G>A (p.Glu248Lys)
c.892G>A (p.Glu298Lys)
c.502G>A (p.Glu168Lys)
c.91G>A (p.Glu31Lys)
2g.206144915T>ACA350057011NDUFS1c.849A>T (p.Glu283Asp)
c.678A>T (p.Glu226Asp)
c.516A>T (p.Glu172Asp)
c.741A>T (p.Glu247Asp)
c.891A>T (p.Glu297Asp)
c.501A>T (p.Glu167Asp)
c.90A>T (p.Glu30Asp)
2g.206144915T>CCA430952551NDUFS1c.849A>G (p.Glu283=)
c.678A>G (p.Glu226=)
c.516A>G (p.Glu172=)
c.741A>G (p.Glu247=)
c.891A>G (p.Glu297=)
c.501A>G (p.Glu167=)
c.90A>G (p.Glu30=)
2g.206144915T>GCA2070646NDUFS1c.849A>C (p.Glu283Asp)
c.678A>C (p.Glu226Asp)
c.516A>C (p.Glu172Asp)
c.741A>C (p.Glu247Asp)
c.891A>C (p.Glu297Asp)
c.501A>C (p.Glu167Asp)
c.90A>C (p.Glu30Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144915T=CA2496487364NDUFS1c.849A= (p.Glu283=)
c.678A= (p.Glu226=)
c.516A= (p.Glu172=)
c.741A= (p.Glu247=)
c.891A= (p.Glu297=)
c.501A= (p.Glu167=)
c.90A= (p.Glu30=)
2g.206144916T>ACA350057017NDUFS1c.848A>T (p.Glu283Val)
c.677A>T (p.Glu226Val)
c.515A>T (p.Glu172Val)
c.740A>T (p.Glu247Val)
c.890A>T (p.Glu297Val)
c.500A>T (p.Glu167Val)
c.89A>T (p.Glu30Val)
2g.206144916T>CCA350057021NDUFS1c.848A>G (p.Glu283Gly)
c.677A>G (p.Glu226Gly)
c.515A>G (p.Glu172Gly)
c.740A>G (p.Glu247Gly)
c.890A>G (p.Glu297Gly)
c.500A>G (p.Glu167Gly)
c.89A>G (p.Glu30Gly)
2g.206144916T>GCA350057024NDUFS1c.848A>C (p.Glu283Ala)
c.677A>C (p.Glu226Ala)
c.515A>C (p.Glu172Ala)
c.740A>C (p.Glu247Ala)
c.890A>C (p.Glu297Ala)
c.500A>C (p.Glu167Ala)
c.89A>C (p.Glu30Ala)
2g.206144917C>ACA350057027NDUFS1c.847G>T (p.Glu283Ter)
c.676G>T (p.Glu226Ter)
c.514G>T (p.Glu172Ter)
c.739G>T (p.Glu247Ter)
c.889G>T (p.Glu297Ter)
c.499G>T (p.Glu167Ter)
c.88G>T (p.Glu30Ter)
2g.206144917C>GCA350057030NDUFS1c.847G>C (p.Glu283Gln)
c.676G>C (p.Glu226Gln)
c.514G>C (p.Glu172Gln)
c.739G>C (p.Glu247Gln)
c.889G>C (p.Glu297Gln)
c.499G>C (p.Glu167Gln)
c.88G>C (p.Glu30Gln)
2g.206144917C>TCA350057031NDUFS1c.847G>A (p.Glu283Lys)
c.676G>A (p.Glu226Lys)
c.514G>A (p.Glu172Lys)
c.739G>A (p.Glu247Lys)
c.889G>A (p.Glu297Lys)
c.499G>A (p.Glu167Lys)
c.88G>A (p.Glu30Lys)
 COSMIC
2g.206144918A>CCA350057037NDUFS1c.846T>G (p.Asn282Lys)
c.675T>G (p.Asn225Lys)
c.513T>G (p.Asn171Lys)
c.738T>G (p.Asn246Lys)
c.888T>G (p.Asn296Lys)
c.498T>G (p.Asn166Lys)
c.87T>G (p.Asn29Lys)
2g.206144918A>GCA430952574NDUFS1c.846T>C (p.Asn282=)
c.675T>C (p.Asn225=)
c.513T>C (p.Asn171=)
c.738T>C (p.Asn246=)
c.888T>C (p.Asn296=)
c.498T>C (p.Asn166=)
c.87T>C (p.Asn29=)
2g.206144918A>TCA350057035NDUFS1c.846T>A (p.Asn282Lys)
c.675T>A (p.Asn225Lys)
c.513T>A (p.Asn171Lys)
c.738T>A (p.Asn246Lys)
c.888T>A (p.Asn296Lys)
c.498T>A (p.Asn166Lys)
c.87T>A (p.Asn29Lys)
2g.206144919T>ACA350057041NDUFS1c.845A>T (p.Asn282Ile)
c.674A>T (p.Asn225Ile)
c.512A>T (p.Asn171Ile)
c.737A>T (p.Asn246Ile)
c.887A>T (p.Asn296Ile)
c.497A>T (p.Asn166Ile)
c.86A>T (p.Asn29Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.206144919T>CCA350057045NDUFS1c.845A>G (p.Asn282Ser)
c.674A>G (p.Asn225Ser)
c.512A>G (p.Asn171Ser)
c.737A>G (p.Asn246Ser)
c.887A>G (p.Asn296Ser)
c.497A>G (p.Asn166Ser)
c.86A>G (p.Asn29Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.206144919T>GCA350057048NDUFS1c.845A>C (p.Asn282Thr)
c.674A>C (p.Asn225Thr)
c.512A>C (p.Asn171Thr)
c.737A>C (p.Asn246Thr)
c.887A>C (p.Asn296Thr)
c.497A>C (p.Asn166Thr)
c.86A>C (p.Asn29Thr)
2g.206144919T=CA2496487365NDUFS1c.845A= (p.Asn282=)
c.674A= (p.Asn225=)
c.512A= (p.Asn171=)
c.737A= (p.Asn246=)
c.887A= (p.Asn296=)
c.497A= (p.Asn166=)
c.86A= (p.Asn29=)
2g.206144920T>ACA350057052NDUFS1c.844A>T (p.Asn282Tyr)
c.673A>T (p.Asn225Tyr)
c.511A>T (p.Asn171Tyr)
c.736A>T (p.Asn246Tyr)
c.886A>T (p.Asn296Tyr)
c.496A>T (p.Asn166Tyr)
c.85A>T (p.Asn29Tyr)
2g.206144920T>CCA63665020NDUFS1c.844A>G (p.Asn282Asp)
c.673A>G (p.Asn225Asp)
c.511A>G (p.Asn171Asp)
c.736A>G (p.Asn246Asp)
c.886A>G (p.Asn296Asp)
c.496A>G (p.Asn166Asp)
c.85A>G (p.Asn29Asp)
 dbSNP
2g.206144920T>GCA350057057NDUFS1c.844A>C (p.Asn282His)
c.673A>C (p.Asn225His)
c.511A>C (p.Asn171His)
c.736A>C (p.Asn246His)
c.886A>C (p.Asn296His)
c.496A>C (p.Asn166His)
c.85A>C (p.Asn29His)
2g.206144920T=CA2496487366NDUFS1c.844A= (p.Asn282=)
c.673A= (p.Asn225=)
c.511A= (p.Asn171=)
c.736A= (p.Asn246=)
c.886A= (p.Asn296=)
c.496A= (p.Asn166=)
c.85A= (p.Asn29=)
2g.206144921G>ACA430952606NDUFS1c.843C>T (p.Ile281=)
c.672C>T (p.Ile224=)
c.510C>T (p.Ile170=)
c.735C>T (p.Ile245=)
c.885C>T (p.Ile295=)
c.495C>T (p.Ile165=)
c.84C>T (p.Ile28=)
 gnomAD v4 COSMIC COSMIC
2g.206144921G>CCA350057061NDUFS1c.843C>G (p.Ile281Met)
c.672C>G (p.Ile224Met)
c.510C>G (p.Ile170Met)
c.735C>G (p.Ile245Met)
c.885C>G (p.Ile295Met)
c.495C>G (p.Ile165Met)
c.84C>G (p.Ile28Met)
2g.206144921G>TCA430952612NDUFS1c.843C>A (p.Ile281=)
c.672C>A (p.Ile224=)
c.510C>A (p.Ile170=)
c.735C>A (p.Ile245=)
c.885C>A (p.Ile295=)
c.495C>A (p.Ile165=)
c.84C>A (p.Ile28=)
2g.206144922A>CCA350057071NDUFS1c.842T>G (p.Ile281Ser)
c.671T>G (p.Ile224Ser)
c.509T>G (p.Ile170Ser)
c.734T>G (p.Ile245Ser)
c.884T>G (p.Ile295Ser)
c.494T>G (p.Ile165Ser)
c.83T>G (p.Ile28Ser)
2g.206144922A>GCA350057074NDUFS1c.842T>C (p.Ile281Thr)
c.671T>C (p.Ile224Thr)
c.509T>C (p.Ile170Thr)
c.734T>C (p.Ile245Thr)
c.884T>C (p.Ile295Thr)
c.494T>C (p.Ile165Thr)
c.83T>C (p.Ile28Thr)
2g.206144922A>TCA350057077NDUFS1c.842T>A (p.Ile281Asn)
c.671T>A (p.Ile224Asn)
c.509T>A (p.Ile170Asn)
c.734T>A (p.Ile245Asn)
c.884T>A (p.Ile295Asn)
c.494T>A (p.Ile165Asn)
c.83T>A (p.Ile28Asn)
2g.206144923T>ACA350057080NDUFS1c.841A>T (p.Ile281Phe)
c.670A>T (p.Ile224Phe)
c.508A>T (p.Ile170Phe)
c.733A>T (p.Ile245Phe)
c.883A>T (p.Ile295Phe)
c.493A>T (p.Ile165Phe)
c.82A>T (p.Ile28Phe)
2g.206144923T>CCA350057083NDUFS1c.841A>G (p.Ile281Val)
c.670A>G (p.Ile224Val)
c.508A>G (p.Ile170Val)
c.733A>G (p.Ile245Val)
c.883A>G (p.Ile295Val)
c.493A>G (p.Ile165Val)
c.82A>G (p.Ile28Val)
 ClinVar dbSNP gnomAD v4
2g.206144923T>GCA350057087NDUFS1c.841A>C (p.Ile281Leu)
c.670A>C (p.Ile224Leu)
c.508A>C (p.Ile170Leu)
c.733A>C (p.Ile245Leu)
c.883A>C (p.Ile295Leu)
c.493A>C (p.Ile165Leu)
c.82A>C (p.Ile28Leu)
2g.206144923T=CA2496487367NDUFS1c.841A= (p.Ile281=)
c.670A= (p.Ile224=)
c.508A= (p.Ile170=)
c.733A= (p.Ile245=)
c.883A= (p.Ile295=)
c.493A= (p.Ile165=)
c.82A= (p.Ile28=)
2g.206144924G>ACA430952630NDUFS1c.840C>T (p.Asp280=)
c.669C>T (p.Asp223=)
c.507C>T (p.Asp169=)
c.732C>T (p.Asp244=)
c.882C>T (p.Asp294=)
c.492C>T (p.Asp164=)
c.81C>T (p.Asp27=)
 dbSNP gnomAD v3 gnomAD v4
2g.206144924G>CCA350057103NDUFS1c.840C>G (p.Asp280Glu)
c.669C>G (p.Asp223Glu)
c.507C>G (p.Asp169Glu)
c.732C>G (p.Asp244Glu)
c.882C>G (p.Asp294Glu)
c.492C>G (p.Asp164Glu)
c.81C>G (p.Asp27Glu)
2g.206144924G=CA2496487368NDUFS1c.840C= (p.Asp280=)
c.669C= (p.Asp223=)
c.507C= (p.Asp169=)
c.732C= (p.Asp244=)
c.882C= (p.Asp294=)
c.492C= (p.Asp164=)
c.81C= (p.Asp27=)
2g.206144924G>TCA350057096NDUFS1c.840C>A (p.Asp280Glu)
c.669C>A (p.Asp223Glu)
c.507C>A (p.Asp169Glu)
c.732C>A (p.Asp244Glu)
c.882C>A (p.Asp294Glu)
c.492C>A (p.Asp164Glu)
c.81C>A (p.Asp27Glu)
2g.206144925T>ACA350057106NDUFS1c.839A>T (p.Asp280Val)
c.668A>T (p.Asp223Val)
c.506A>T (p.Asp169Val)
c.731A>T (p.Asp244Val)
c.881A>T (p.Asp294Val)
c.491A>T (p.Asp164Val)
c.80A>T (p.Asp27Val)
2g.206144925T>CCA350057109NDUFS1c.839A>G (p.Asp280Gly)
c.668A>G (p.Asp223Gly)
c.506A>G (p.Asp169Gly)
c.731A>G (p.Asp244Gly)
c.881A>G (p.Asp294Gly)
c.491A>G (p.Asp164Gly)
c.80A>G (p.Asp27Gly)
 gnomAD v4
2g.206144925T>GCA350057111NDUFS1c.839A>C (p.Asp280Ala)
c.668A>C (p.Asp223Ala)
c.506A>C (p.Asp169Ala)
c.731A>C (p.Asp244Ala)
c.881A>C (p.Asp294Ala)
c.491A>C (p.Asp164Ala)
c.80A>C (p.Asp27Ala)
2g.206144926C>ACA350057113NDUFS1c.838G>T (p.Asp280Tyr)
c.667G>T (p.Asp223Tyr)
c.505G>T (p.Asp169Tyr)
c.730G>T (p.Asp244Tyr)
c.880G>T (p.Asp294Tyr)
c.490G>T (p.Asp164Tyr)
c.79G>T (p.Asp27Tyr)
2g.206144926C>GCA350057114NDUFS1c.838G>C (p.Asp280His)
c.667G>C (p.Asp223His)
c.505G>C (p.Asp169His)
c.730G>C (p.Asp244His)
c.880G>C (p.Asp294His)
c.490G>C (p.Asp164His)
c.79G>C (p.Asp27His)

Number of alleles fetched