Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.206144926C>TCA350057115NDUFS1c.838G>A (p.Asp280Asn)
c.667G>A (p.Asp223Asn)
c.505G>A (p.Asp169Asn)
c.730G>A (p.Asp244Asn)
c.880G>A (p.Asp294Asn)
c.490G>A (p.Asp164Asn)
c.79G>A (p.Asp27Asn)
2g.206144927C>ACA350057119NDUFS1c.837G>T (p.Glu279Asp)
c.666G>T (p.Glu222Asp)
c.504G>T (p.Glu168Asp)
c.729G>T (p.Glu243Asp)
c.879G>T (p.Glu293Asp)
c.489G>T (p.Glu163Asp)
c.78G>T (p.Glu26Asp)
2g.206144927C=CA2496487369NDUFS1c.837G= (p.Glu279=)
c.666G= (p.Glu222=)
c.504G= (p.Glu168=)
c.729G= (p.Glu243=)
c.879G= (p.Glu293=)
c.489G= (p.Glu163=)
c.78G= (p.Glu26=)
2g.206144927C>GCA350057121NDUFS1c.837G>C (p.Glu279Asp)
c.666G>C (p.Glu222Asp)
c.504G>C (p.Glu168Asp)
c.729G>C (p.Glu243Asp)
c.879G>C (p.Glu293Asp)
c.489G>C (p.Glu163Asp)
c.78G>C (p.Glu26Asp)
2g.206144927C>TCA430952677NDUFS1c.837G>A (p.Glu279=)
c.666G>A (p.Glu222=)
c.504G>A (p.Glu168=)
c.729G>A (p.Glu243=)
c.879G>A (p.Glu293=)
c.489G>A (p.Glu163=)
c.78G>A (p.Glu26=)
 dbSNP gnomAD v2 gnomAD v4
2g.206144928T>ACA350057126NDUFS1c.836A>T (p.Glu279Val)
c.665A>T (p.Glu222Val)
c.503A>T (p.Glu168Val)
c.728A>T (p.Glu243Val)
c.878A>T (p.Glu293Val)
c.488A>T (p.Glu163Val)
c.77A>T (p.Glu26Val)
2g.206144928T>CCA350057131NDUFS1c.836A>G (p.Glu279Gly)
c.665A>G (p.Glu222Gly)
c.503A>G (p.Glu168Gly)
c.728A>G (p.Glu243Gly)
c.878A>G (p.Glu293Gly)
c.488A>G (p.Glu163Gly)
c.77A>G (p.Glu26Gly)
2g.206144928T>GCA350057134NDUFS1c.836A>C (p.Glu279Ala)
c.665A>C (p.Glu222Ala)
c.503A>C (p.Glu168Ala)
c.728A>C (p.Glu243Ala)
c.878A>C (p.Glu293Ala)
c.488A>C (p.Glu163Ala)
c.77A>C (p.Glu26Ala)
2g.206144929C>ACA350057138NDUFS1c.835G>T (p.Glu279Ter)
c.664G>T (p.Glu222Ter)
c.502G>T (p.Glu168Ter)
c.727G>T (p.Glu243Ter)
c.877G>T (p.Glu293Ter)
c.487G>T (p.Glu163Ter)
c.76G>T (p.Glu26Ter)
2g.206144929C>GCA350057144NDUFS1c.835G>C (p.Glu279Gln)
c.664G>C (p.Glu222Gln)
c.502G>C (p.Glu168Gln)
c.727G>C (p.Glu243Gln)
c.877G>C (p.Glu293Gln)
c.487G>C (p.Glu163Gln)
c.76G>C (p.Glu26Gln)
2g.206144929C>TCA350057146NDUFS1c.835G>A (p.Glu279Lys)
c.664G>A (p.Glu222Lys)
c.502G>A (p.Glu168Lys)
c.727G>A (p.Glu243Lys)
c.877G>A (p.Glu293Lys)
c.487G>A (p.Glu163Lys)
c.76G>A (p.Glu26Lys)
2g.206144930A>CCA350057158NDUFS1c.834T>G (p.His278Gln)
c.663T>G (p.His221Gln)
c.501T>G (p.His167Gln)
c.726T>G (p.His242Gln)
c.876T>G (p.His292Gln)
c.486T>G (p.His162Gln)
c.75T>G (p.His25Gln)
2g.206144930A>GCA430952700NDUFS1c.834T>C (p.His278=)
c.663T>C (p.His221=)
c.501T>C (p.His167=)
c.726T>C (p.His242=)
c.876T>C (p.His292=)
c.486T>C (p.His162=)
c.75T>C (p.His25=)
2g.206144930A>TCA350057150NDUFS1c.834T>A (p.His278Gln)
c.663T>A (p.His221Gln)
c.501T>A (p.His167Gln)
c.726T>A (p.His242Gln)
c.876T>A (p.His292Gln)
c.486T>A (p.His162Gln)
c.75T>A (p.His25Gln)
2g.206144931T>ACA350057162NDUFS1c.833A>T (p.His278Leu)
c.662A>T (p.His221Leu)
c.500A>T (p.His167Leu)
c.725A>T (p.His242Leu)
c.875A>T (p.His292Leu)
c.485A>T (p.His162Leu)
c.74A>T (p.His25Leu)
2g.206144931T>CCA2070647NDUFS1c.833A>G (p.His278Arg)
c.662A>G (p.His221Arg)
c.500A>G (p.His167Arg)
c.725A>G (p.His242Arg)
c.875A>G (p.His292Arg)
c.485A>G (p.His162Arg)
c.74A>G (p.His25Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144931T>GCA350057165NDUFS1c.833A>C (p.His278Pro)
c.662A>C (p.His221Pro)
c.500A>C (p.His167Pro)
c.725A>C (p.His242Pro)
c.875A>C (p.His292Pro)
c.485A>C (p.His162Pro)
c.74A>C (p.His25Pro)
 gnomAD v4
2g.206144931T=CA2496487370NDUFS1c.833A= (p.His278=)
c.662A= (p.His221=)
c.500A= (p.His167=)
c.725A= (p.His242=)
c.875A= (p.His292=)
c.485A= (p.His162=)
c.74A= (p.His25=)
2g.206144932G>ACA350057170NDUFS1c.832C>T (p.His278Tyr)
c.661C>T (p.His221Tyr)
c.499C>T (p.His167Tyr)
c.724C>T (p.His242Tyr)
c.874C>T (p.His292Tyr)
c.484C>T (p.His162Tyr)
c.73C>T (p.His25Tyr)
2g.206144932G>CCA350057175NDUFS1c.832C>G (p.His278Asp)
c.661C>G (p.His221Asp)
c.499C>G (p.His167Asp)
c.724C>G (p.His242Asp)
c.874C>G (p.His292Asp)
c.484C>G (p.His162Asp)
c.73C>G (p.His25Asp)
2g.206144932G>TCA350057173NDUFS1c.832C>A (p.His278Asn)
c.661C>A (p.His221Asn)
c.499C>A (p.His167Asn)
c.724C>A (p.His242Asn)
c.874C>A (p.His292Asn)
c.484C>A (p.His162Asn)
c.73C>A (p.His25Asn)
2g.206144933C>ACA350057177NDUFS1c.831G>T (p.Met277Ile)
c.660G>T (p.Met220Ile)
c.498G>T (p.Met166Ile)
c.723G>T (p.Met241Ile)
c.873G>T (p.Met291Ile)
c.483G>T (p.Met161Ile)
c.72G>T (p.Met24Ile)
2g.206144933C=CA2496487371NDUFS1c.831G= (p.Met277=)
c.660G= (p.Met220=)
c.498G= (p.Met166=)
c.723G= (p.Met241=)
c.873G= (p.Met291=)
c.483G= (p.Met161=)
c.72G= (p.Met24=)
2g.206144933C>GCA350057180NDUFS1c.831G>C (p.Met277Ile)
c.660G>C (p.Met220Ile)
c.498G>C (p.Met166Ile)
c.723G>C (p.Met241Ile)
c.873G>C (p.Met291Ile)
c.483G>C (p.Met161Ile)
c.72G>C (p.Met24Ile)
2g.206144933C>TCA350057182NDUFS1c.831G>A (p.Met277Ile)
c.660G>A (p.Met220Ile)
c.498G>A (p.Met166Ile)
c.723G>A (p.Met241Ile)
c.873G>A (p.Met291Ile)
c.483G>A (p.Met161Ile)
c.72G>A (p.Met24Ile)
 ClinVar dbSNP gnomAD v4
2g.206144934A=CA2496487372NDUFS1c.830T= (p.Met277=)
c.659T= (p.Met220=)
c.497T= (p.Met166=)
c.722T= (p.Met241=)
c.872T= (p.Met291=)
c.482T= (p.Met161=)
c.71T= (p.Met24=)
2g.206144934A>CCA2070648NDUFS1c.830T>G (p.Met277Arg)
c.659T>G (p.Met220Arg)
c.497T>G (p.Met166Arg)
c.722T>G (p.Met241Arg)
c.872T>G (p.Met291Arg)
c.482T>G (p.Met161Arg)
c.71T>G (p.Met24Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144934A>GCA63665026NDUFS1c.830T>C (p.Met277Thr)
c.659T>C (p.Met220Thr)
c.497T>C (p.Met166Thr)
c.722T>C (p.Met241Thr)
c.872T>C (p.Met291Thr)
c.482T>C (p.Met161Thr)
c.71T>C (p.Met24Thr)
 dbSNP gnomAD v4
2g.206144934A>TCA350057190NDUFS1c.830T>A (p.Met277Lys)
c.659T>A (p.Met220Lys)
c.497T>A (p.Met166Lys)
c.722T>A (p.Met241Lys)
c.872T>A (p.Met291Lys)
c.482T>A (p.Met161Lys)
c.71T>A (p.Met24Lys)
2g.206144935T>ACA350057201NDUFS1c.829A>T (p.Met277Leu)
c.658A>T (p.Met220Leu)
c.496A>T (p.Met166Leu)
c.721A>T (p.Met241Leu)
c.871A>T (p.Met291Leu)
c.481A>T (p.Met161Leu)
c.70A>T (p.Met24Leu)
 gnomAD v4
2g.206144935T>CCA350057204NDUFS1c.829A>G (p.Met277Val)
c.658A>G (p.Met220Val)
c.496A>G (p.Met166Val)
c.721A>G (p.Met241Val)
c.871A>G (p.Met291Val)
c.481A>G (p.Met161Val)
c.70A>G (p.Met24Val)
2g.206144935T>GCA350057207NDUFS1c.829A>C (p.Met277Leu)
c.658A>C (p.Met220Leu)
c.496A>C (p.Met166Leu)
c.721A>C (p.Met241Leu)
c.871A>C (p.Met291Leu)
c.481A>C (p.Met161Leu)
c.70A>C (p.Met24Leu)
2g.206144936A>CCA430952780NDUFS1c.828T>G (p.Arg276=)
c.657T>G (p.Arg219=)
c.495T>G (p.Arg165=)
c.720T>G (p.Arg240=)
c.870T>G (p.Arg290=)
c.480T>G (p.Arg160=)
c.69T>G (p.Arg23=)
2g.206144936A>GCA430952781NDUFS1c.828T>C (p.Arg276=)
c.657T>C (p.Arg219=)
c.495T>C (p.Arg165=)
c.720T>C (p.Arg240=)
c.870T>C (p.Arg290=)
c.480T>C (p.Arg160=)
c.69T>C (p.Arg23=)
2g.206144936A>TCA430952782NDUFS1c.828T>A (p.Arg276=)
c.657T>A (p.Arg219=)
c.495T>A (p.Arg165=)
c.720T>A (p.Arg240=)
c.870T>A (p.Arg290=)
c.480T>A (p.Arg160=)
c.69T>A (p.Arg23=)
2g.206144937C>ACA350057213NDUFS1c.827G>T (p.Arg276Leu)
c.656G>T (p.Arg219Leu)
c.494G>T (p.Arg165Leu)
c.719G>T (p.Arg240Leu)
c.869G>T (p.Arg290Leu)
c.479G>T (p.Arg160Leu)
c.68G>T (p.Arg23Leu)
2g.206144937C=CA2496487373NDUFS1c.827G= (p.Arg276=)
c.656G= (p.Arg219=)
c.494G= (p.Arg165=)
c.719G= (p.Arg240=)
c.869G= (p.Arg290=)
c.479G= (p.Arg160=)
c.68G= (p.Arg23=)
2g.206144937C>GCA350057215NDUFS1c.827G>C (p.Arg276Pro)
c.656G>C (p.Arg219Pro)
c.494G>C (p.Arg165Pro)
c.719G>C (p.Arg240Pro)
c.869G>C (p.Arg290Pro)
c.479G>C (p.Arg160Pro)
c.68G>C (p.Arg23Pro)
2g.206144937C>TCA2070649NDUFS1c.827G>A (p.Arg276His)
c.656G>A (p.Arg219His)
c.494G>A (p.Arg165His)
c.719G>A (p.Arg240His)
c.869G>A (p.Arg290His)
c.479G>A (p.Arg160His)
c.68G>A (p.Arg23His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206144938G>ACA2070650NDUFS1c.826C>T (p.Arg276Cys)
c.655C>T (p.Arg219Cys)
c.493C>T (p.Arg165Cys)
c.718C>T (p.Arg240Cys)
c.868C>T (p.Arg290Cys)
c.478C>T (p.Arg160Cys)
c.67C>T (p.Arg23Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206144938G>CCA350057221NDUFS1c.826C>G (p.Arg276Gly)
c.655C>G (p.Arg219Gly)
c.493C>G (p.Arg165Gly)
c.718C>G (p.Arg240Gly)
c.868C>G (p.Arg290Gly)
c.478C>G (p.Arg160Gly)
c.67C>G (p.Arg23Gly)
2g.206144938G=CA2496487374NDUFS1c.826C= (p.Arg276=)
c.655C= (p.Arg219=)
c.493C= (p.Arg165=)
c.718C= (p.Arg240=)
c.868C= (p.Arg290=)
c.478C= (p.Arg160=)
c.67C= (p.Arg23=)
2g.206144938G>TCA350057224NDUFS1c.826C>A (p.Arg276Ser)
c.655C>A (p.Arg219Ser)
c.493C>A (p.Arg165Ser)
c.718C>A (p.Arg240Ser)
c.868C>A (p.Arg290Ser)
c.478C>A (p.Arg160Ser)
c.67C>A (p.Arg23Ser)
2g.206144939T>ACA430952800NDUFS1c.825A>T (p.Pro275=)
c.654A>T (p.Pro218=)
c.492A>T (p.Pro164=)
c.717A>T (p.Pro239=)
c.867A>T (p.Pro289=)
c.477A>T (p.Pro159=)
c.66A>T (p.Pro22=)
2g.206144939T>CCA430952803NDUFS1c.825A>G (p.Pro275=)
c.654A>G (p.Pro218=)
c.492A>G (p.Pro164=)
c.717A>G (p.Pro239=)
c.867A>G (p.Pro289=)
c.477A>G (p.Pro159=)
c.66A>G (p.Pro22=)
 dbSNP gnomAD v2
2g.206144939T>GCA430952807NDUFS1c.825A>C (p.Pro275=)
c.654A>C (p.Pro218=)
c.492A>C (p.Pro164=)
c.717A>C (p.Pro239=)
c.867A>C (p.Pro289=)
c.477A>C (p.Pro159=)
c.66A>C (p.Pro22=)
2g.206144939T=CA2496487375NDUFS1c.825A= (p.Pro275=)
c.654A= (p.Pro218=)
c.492A= (p.Pro164=)
c.717A= (p.Pro239=)
c.867A= (p.Pro289=)
c.477A= (p.Pro159=)
c.66A= (p.Pro22=)
2g.206144940G>ACA350057235NDUFS1c.824C>T (p.Pro275Leu)
c.653C>T (p.Pro218Leu)
c.491C>T (p.Pro164Leu)
c.716C>T (p.Pro239Leu)
c.866C>T (p.Pro289Leu)
c.476C>T (p.Pro159Leu)
c.65C>T (p.Pro22Leu)
2g.206144940G>CCA350057238NDUFS1c.824C>G (p.Pro275Arg)
c.653C>G (p.Pro218Arg)
c.491C>G (p.Pro164Arg)
c.716C>G (p.Pro239Arg)
c.866C>G (p.Pro289Arg)
c.476C>G (p.Pro159Arg)
c.65C>G (p.Pro22Arg)
2g.206144940G>TCA350057240NDUFS1c.824C>A (p.Pro275Gln)
c.653C>A (p.Pro218Gln)
c.491C>A (p.Pro164Gln)
c.716C>A (p.Pro239Gln)
c.866C>A (p.Pro289Gln)
c.476C>A (p.Pro159Gln)
c.65C>A (p.Pro22Gln)
2g.206144941G>ACA350057244NDUFS1c.823C>T (p.Pro275Ser)
c.652C>T (p.Pro218Ser)
c.490C>T (p.Pro164Ser)
c.715C>T (p.Pro239Ser)
c.865C>T (p.Pro289Ser)
c.475C>T (p.Pro159Ser)
c.64C>T (p.Pro22Ser)
 COSMIC
2g.206144941G>CCA350057246NDUFS1c.823C>G (p.Pro275Ala)
c.652C>G (p.Pro218Ala)
c.490C>G (p.Pro164Ala)
c.715C>G (p.Pro239Ala)
c.865C>G (p.Pro289Ala)
c.475C>G (p.Pro159Ala)
c.64C>G (p.Pro22Ala)
2g.206144941G>TCA350057247NDUFS1c.823C>A (p.Pro275Thr)
c.652C>A (p.Pro218Thr)
c.490C>A (p.Pro164Thr)
c.715C>A (p.Pro239Thr)
c.865C>A (p.Pro289Thr)
c.475C>A (p.Pro159Thr)
c.64C>A (p.Pro22Thr)
2g.206144942C>ACA350057248NDUFS1c.822G>T (p.Leu274Phe)
c.651G>T (p.Leu217Phe)
c.489G>T (p.Leu163Phe)
c.714G>T (p.Leu238Phe)
c.864G>T (p.Leu288Phe)
c.474G>T (p.Leu158Phe)
c.63G>T (p.Leu21Phe)
2g.206144942C=CA2496487376NDUFS1c.822G= (p.Leu274=)
c.651G= (p.Leu217=)
c.489G= (p.Leu163=)
c.714G= (p.Leu238=)
c.864G= (p.Leu288=)
c.474G= (p.Leu158=)
c.63G= (p.Leu21=)
2g.206144942C>GCA350057251NDUFS1c.822G>C (p.Leu274Phe)
c.651G>C (p.Leu217Phe)
c.489G>C (p.Leu163Phe)
c.714G>C (p.Leu238Phe)
c.864G>C (p.Leu288Phe)
c.474G>C (p.Leu158Phe)
c.63G>C (p.Leu21Phe)
 gnomAD v4
2g.206144942C>TCA430952833NDUFS1c.822G>A (p.Leu274=)
c.651G>A (p.Leu217=)
c.489G>A (p.Leu163=)
c.714G>A (p.Leu238=)
c.864G>A (p.Leu288=)
c.474G>A (p.Leu158=)
c.63G>A (p.Leu21=)
 dbSNP
2g.206144943A>CCA350057253NDUFS1c.821T>G (p.Leu274Trp)
c.650T>G (p.Leu217Trp)
c.488T>G (p.Leu163Trp)
c.713T>G (p.Leu238Trp)
c.863T>G (p.Leu288Trp)
c.473T>G (p.Leu158Trp)
c.62T>G (p.Leu21Trp)
2g.206144943A>GCA350057254NDUFS1c.821T>C (p.Leu274Ser)
c.650T>C (p.Leu217Ser)
c.488T>C (p.Leu163Ser)
c.713T>C (p.Leu238Ser)
c.863T>C (p.Leu288Ser)
c.473T>C (p.Leu158Ser)
c.62T>C (p.Leu21Ser)
2g.206144943A>TCA350057257NDUFS1c.821T>A (p.Leu274Ter)
c.650T>A (p.Leu217Ter)
c.488T>A (p.Leu163Ter)
c.713T>A (p.Leu238Ter)
c.863T>A (p.Leu288Ter)
c.473T>A (p.Leu158Ter)
c.62T>A (p.Leu21Ter)
2g.206144944A=CA2496487377NDUFS1c.820T= (p.Leu274=)
c.649T= (p.Leu217=)
c.487T= (p.Leu163=)
c.712T= (p.Leu238=)
c.862T= (p.Leu288=)
c.472T= (p.Leu158=)
c.61T= (p.Leu21=)
2g.206144944A>CCA350057273NDUFS1c.820T>G (p.Leu274Val)
c.649T>G (p.Leu217Val)
c.487T>G (p.Leu163Val)
c.712T>G (p.Leu238Val)
c.862T>G (p.Leu288Val)
c.472T>G (p.Leu158Val)
c.61T>G (p.Leu21Val)
2g.206144944A>GCA430952861NDUFS1c.820T>C (p.Leu274=)
c.649T>C (p.Leu217=)
c.487T>C (p.Leu163=)
c.712T>C (p.Leu238=)
c.862T>C (p.Leu288=)
c.472T>C (p.Leu158=)
c.61T>C (p.Leu21=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206144944A>TCA350057262NDUFS1c.820T>A (p.Leu274Met)
c.649T>A (p.Leu217Met)
c.487T>A (p.Leu163Met)
c.712T>A (p.Leu238Met)
c.862T>A (p.Leu288Met)
c.472T>A (p.Leu158Met)
c.61T>A (p.Leu21Met)
2g.206144945A>CCA350057275NDUFS1c.819T>G (p.Ile273Met)
c.648T>G (p.Ile216Met)
c.486T>G (p.Ile162Met)
c.711T>G (p.Ile237Met)
c.861T>G (p.Ile287Met)
c.471T>G (p.Ile157Met)
c.60T>G (p.Ile20Met)
2g.206144945A>GCA430952870NDUFS1c.819T>C (p.Ile273=)
c.648T>C (p.Ile216=)
c.486T>C (p.Ile162=)
c.711T>C (p.Ile237=)
c.861T>C (p.Ile287=)
c.471T>C (p.Ile157=)
c.60T>C (p.Ile20=)
2g.206144945A>TCA430952871NDUFS1c.819T>A (p.Ile273=)
c.648T>A (p.Ile216=)
c.486T>A (p.Ile162=)
c.711T>A (p.Ile237=)
c.861T>A (p.Ile287=)
c.471T>A (p.Ile157=)
c.60T>A (p.Ile20=)
2g.206144946A=CA2496487378NDUFS1c.818T= (p.Ile273=)
c.647T= (p.Ile216=)
c.485T= (p.Ile162=)
c.710T= (p.Ile237=)
c.860T= (p.Ile287=)
c.470T= (p.Ile157=)
c.59T= (p.Ile20=)
2g.206144946A>CCA350057278NDUFS1c.818T>G (p.Ile273Ser)
c.647T>G (p.Ile216Ser)
c.485T>G (p.Ile162Ser)
c.710T>G (p.Ile237Ser)
c.860T>G (p.Ile287Ser)
c.470T>G (p.Ile157Ser)
c.59T>G (p.Ile20Ser)
 gnomAD v4
2g.206144946A>GCA350057281NDUFS1c.818T>C (p.Ile273Thr)
c.647T>C (p.Ile216Thr)
c.485T>C (p.Ile162Thr)
c.710T>C (p.Ile237Thr)
c.860T>C (p.Ile287Thr)
c.470T>C (p.Ile157Thr)
c.59T>C (p.Ile20Thr)
 dbSNP
2g.206144946A>TCA350057283NDUFS1c.818T>A (p.Ile273Asn)
c.647T>A (p.Ile216Asn)
c.485T>A (p.Ile162Asn)
c.710T>A (p.Ile237Asn)
c.860T>A (p.Ile287Asn)
c.470T>A (p.Ile157Asn)
c.59T>A (p.Ile20Asn)
2g.206144947T>ACA350057291NDUFS1c.817A>T (p.Ile273Phe)
c.646A>T (p.Ile216Phe)
c.484A>T (p.Ile162Phe)
c.709A>T (p.Ile237Phe)
c.859A>T (p.Ile287Phe)
c.469A>T (p.Ile157Phe)
c.58A>T (p.Ile20Phe)
2g.206144947T>CCA350057299NDUFS1c.817A>G (p.Ile273Val)
c.646A>G (p.Ile216Val)
c.484A>G (p.Ile162Val)
c.709A>G (p.Ile237Val)
c.859A>G (p.Ile287Val)
c.469A>G (p.Ile157Val)
c.58A>G (p.Ile20Val)
 dbSNP gnomAD v2 gnomAD v4
2g.206144947T>GCA350057302NDUFS1c.817A>C (p.Ile273Leu)
c.646A>C (p.Ile216Leu)
c.484A>C (p.Ile162Leu)
c.709A>C (p.Ile237Leu)
c.859A>C (p.Ile287Leu)
c.469A>C (p.Ile157Leu)
c.58A>C (p.Ile20Leu)
2g.206144947T=CA2496487379NDUFS1c.817A= (p.Ile273=)
c.646A= (p.Ile216=)
c.484A= (p.Ile162=)
c.709A= (p.Ile237=)
c.859A= (p.Ile287=)
c.469A= (p.Ile157=)
c.58A= (p.Ile20=)
2g.206144949_206144951delCA2662803886NDUFS1c.815_817del (p.Arg272del)
c.644_646del (p.Arg215del)
c.482_484del (p.Arg161del)
c.707_709del (p.Arg236del)
c.857_859del (p.Arg286del)
c.467_469del (p.Arg156del)
c.56_58del (p.Arg19del)
 gnomAD v4
2g.206144948C>ACA350057306NDUFS1c.816G>T (p.Arg272Ser)
c.645G>T (p.Arg215Ser)
c.483G>T (p.Arg161Ser)
c.708G>T (p.Arg236Ser)
c.858G>T (p.Arg286Ser)
c.468G>T (p.Arg156Ser)
c.57G>T (p.Arg19Ser)
2g.206144948C>GCA350057307NDUFS1c.816G>C (p.Arg272Ser)
c.645G>C (p.Arg215Ser)
c.483G>C (p.Arg161Ser)
c.708G>C (p.Arg236Ser)
c.858G>C (p.Arg286Ser)
c.468G>C (p.Arg156Ser)
c.57G>C (p.Arg19Ser)
2g.206144948C>TCA430952891NDUFS1c.816G>A (p.Arg272=)
c.645G>A (p.Arg215=)
c.483G>A (p.Arg161=)
c.708G>A (p.Arg236=)
c.858G>A (p.Arg286=)
c.468G>A (p.Arg156=)
c.57G>A (p.Arg19=)
2g.206144949C>ACA350057309NDUFS1c.815G>T (p.Arg272Met)
c.644G>T (p.Arg215Met)
c.482G>T (p.Arg161Met)
c.707G>T (p.Arg236Met)
c.857G>T (p.Arg286Met)
c.467G>T (p.Arg156Met)
c.56G>T (p.Arg19Met)
2g.206144949C=CA2496487380NDUFS1c.815G= (p.Arg272=)
c.644G= (p.Arg215=)
c.482G= (p.Arg161=)
c.707G= (p.Arg236=)
c.857G= (p.Arg286=)
c.467G= (p.Arg156=)
c.56G= (p.Arg19=)
2g.206144949C>GCA350057311NDUFS1c.815G>C (p.Arg272Thr)
c.644G>C (p.Arg215Thr)
c.482G>C (p.Arg161Thr)
c.707G>C (p.Arg236Thr)
c.857G>C (p.Arg286Thr)
c.467G>C (p.Arg156Thr)
c.56G>C (p.Arg19Thr)
2g.206144949C>TCA350057314NDUFS1c.815G>A (p.Arg272Lys)
c.644G>A (p.Arg215Lys)
c.482G>A (p.Arg161Lys)
c.707G>A (p.Arg236Lys)
c.857G>A (p.Arg286Lys)
c.467G>A (p.Arg156Lys)
c.56G>A (p.Arg19Lys)
 dbSNP gnomAD v4
2g.206144950T>ACA350057317NDUFS1c.814A>T (p.Arg272Trp)
c.643A>T (p.Arg215Trp)
c.481A>T (p.Arg161Trp)
c.706A>T (p.Arg236Trp)
c.856A>T (p.Arg286Trp)
c.466A>T (p.Arg156Trp)
c.55A>T (p.Arg19Trp)
2g.206144950T>CCA350057319NDUFS1c.814A>G (p.Arg272Gly)
c.643A>G (p.Arg215Gly)
c.481A>G (p.Arg161Gly)
c.706A>G (p.Arg236Gly)
c.856A>G (p.Arg286Gly)
c.466A>G (p.Arg156Gly)
c.55A>G (p.Arg19Gly)
2g.206144950T>GCA430952923NDUFS1c.814A>C (p.Arg272=)
c.643A>C (p.Arg215=)
c.481A>C (p.Arg161=)
c.706A>C (p.Arg236=)
c.856A>C (p.Arg286=)
c.466A>C (p.Arg156=)
c.55A>C (p.Arg19=)
2g.206144951C>ACA2070651NDUFS1c.813G>T (p.Met271Ile)
c.642G>T (p.Met214Ile)
c.480G>T (p.Met160Ile)
c.705G>T (p.Met235Ile)
c.855G>T (p.Met285Ile)
c.465G>T (p.Met155Ile)
c.54G>T (p.Met18Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206144951C=CA2496487381NDUFS1c.813G= (p.Met271=)
c.642G= (p.Met214=)
c.480G= (p.Met160=)
c.705G= (p.Met235=)
c.855G= (p.Met285=)
c.465G= (p.Met155=)
c.54G= (p.Met18=)
2g.206144951C>GCA350057331NDUFS1c.813G>C (p.Met271Ile)
c.642G>C (p.Met214Ile)
c.480G>C (p.Met160Ile)
c.705G>C (p.Met235Ile)
c.855G>C (p.Met285Ile)
c.465G>C (p.Met155Ile)
c.54G>C (p.Met18Ile)
2g.206144951C>TCA350057328NDUFS1c.813G>A (p.Met271Ile)
c.642G>A (p.Met214Ile)
c.480G>A (p.Met160Ile)
c.705G>A (p.Met235Ile)
c.855G>A (p.Met285Ile)
c.465G>A (p.Met155Ile)
c.54G>A (p.Met18Ile)
2g.206144952A=CA2496487382NDUFS1c.812T= (p.Met271=)
c.641T= (p.Met214=)
c.479T= (p.Met160=)
c.704T= (p.Met235=)
c.854T= (p.Met285=)
c.464T= (p.Met155=)
c.53T= (p.Met18=)
2g.206144952A>CCA350057332NDUFS1c.812T>G (p.Met271Arg)
c.641T>G (p.Met214Arg)
c.479T>G (p.Met160Arg)
c.704T>G (p.Met235Arg)
c.854T>G (p.Met285Arg)
c.464T>G (p.Met155Arg)
c.53T>G (p.Met18Arg)
2g.206144952A>GCA2070652NDUFS1c.812T>C (p.Met271Thr)
c.641T>C (p.Met214Thr)
c.479T>C (p.Met160Thr)
c.704T>C (p.Met235Thr)
c.854T>C (p.Met285Thr)
c.464T>C (p.Met155Thr)
c.53T>C (p.Met18Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144952A>TCA350057333NDUFS1c.812T>A (p.Met271Lys)
c.641T>A (p.Met214Lys)
c.479T>A (p.Met160Lys)
c.704T>A (p.Met235Lys)
c.854T>A (p.Met285Lys)
c.464T>A (p.Met155Lys)
c.53T>A (p.Met18Lys)
2g.206144953T>ACA350057334NDUFS1c.811A>T (p.Met271Leu)
c.640A>T (p.Met214Leu)
c.478A>T (p.Met160Leu)
c.703A>T (p.Met235Leu)
c.853A>T (p.Met285Leu)
c.463A>T (p.Met155Leu)
c.52A>T (p.Met18Leu)
2g.206144953T>CCA350057336NDUFS1c.811A>G (p.Met271Val)
c.640A>G (p.Met214Val)
c.478A>G (p.Met160Val)
c.703A>G (p.Met235Val)
c.853A>G (p.Met285Val)
c.463A>G (p.Met155Val)
c.52A>G (p.Met18Val)
 gnomAD v4
2g.206144953T>GCA350057338NDUFS1c.811A>C (p.Met271Leu)
c.640A>C (p.Met214Leu)
c.478A>C (p.Met160Leu)
c.703A>C (p.Met235Leu)
c.853A>C (p.Met285Leu)
c.463A>C (p.Met155Leu)
c.52A>C (p.Met18Leu)
2g.206144954C>ACA430952954NDUFS1c.810G>T (p.Val270=)
c.639G>T (p.Val213=)
c.477G>T (p.Val159=)
c.702G>T (p.Val234=)
c.852G>T (p.Val284=)
c.462G>T (p.Val154=)
c.51G>T (p.Val17=)
2g.206144954C>GCA430952958NDUFS1c.810G>C (p.Val270=)
c.639G>C (p.Val213=)
c.477G>C (p.Val159=)
c.702G>C (p.Val234=)
c.852G>C (p.Val284=)
c.462G>C (p.Val154=)
c.51G>C (p.Val17=)
2g.206144954C>TCA430952962NDUFS1c.810G>A (p.Val270=)
c.639G>A (p.Val213=)
c.477G>A (p.Val159=)
c.702G>A (p.Val234=)
c.852G>A (p.Val284=)
c.462G>A (p.Val154=)
c.51G>A (p.Val17=)
2g.206144955A>CCA350057343NDUFS1c.809T>G (p.Val270Gly)
c.638T>G (p.Val213Gly)
c.476T>G (p.Val159Gly)
c.701T>G (p.Val234Gly)
c.851T>G (p.Val284Gly)
c.461T>G (p.Val154Gly)
c.50T>G (p.Val17Gly)
2g.206144955A>GCA350057356NDUFS1c.809T>C (p.Val270Ala)
c.638T>C (p.Val213Ala)
c.476T>C (p.Val159Ala)
c.701T>C (p.Val234Ala)
c.851T>C (p.Val284Ala)
c.461T>C (p.Val154Ala)
c.50T>C (p.Val17Ala)
2g.206144955A>TCA350057359NDUFS1c.809T>A (p.Val270Glu)
c.638T>A (p.Val213Glu)
c.476T>A (p.Val159Glu)
c.701T>A (p.Val234Glu)
c.851T>A (p.Val284Glu)
c.461T>A (p.Val154Glu)
c.50T>A (p.Val17Glu)
2g.206144956C>ACA350057364NDUFS1c.808G>T (p.Val270Leu)
c.637G>T (p.Val213Leu)
c.475G>T (p.Val159Leu)
c.700G>T (p.Val234Leu)
c.850G>T (p.Val284Leu)
c.460G>T (p.Val154Leu)
c.49G>T (p.Val17Leu)
2g.206144956C>GCA350057365NDUFS1c.808G>C (p.Val270Leu)
c.637G>C (p.Val213Leu)
c.475G>C (p.Val159Leu)
c.700G>C (p.Val234Leu)
c.850G>C (p.Val284Leu)
c.460G>C (p.Val154Leu)
c.49G>C (p.Val17Leu)
2g.206144956C>TCA350057367NDUFS1c.808G>A (p.Val270Met)
c.637G>A (p.Val213Met)
c.475G>A (p.Val159Met)
c.700G>A (p.Val234Met)
c.850G>A (p.Val284Met)
c.460G>A (p.Val154Met)
c.49G>A (p.Val17Met)
 gnomAD v4
2g.206144957T>ACA350057370NDUFS1c.807A>T (p.Glu269Asp)
c.636A>T (p.Glu212Asp)
c.474A>T (p.Glu158Asp)
c.699A>T (p.Glu233Asp)
c.849A>T (p.Glu283Asp)
c.459A>T (p.Glu153Asp)
c.48A>T (p.Glu16Asp)
2g.206144957T>CCA430952992NDUFS1c.807A>G (p.Glu269=)
c.636A>G (p.Glu212=)
c.474A>G (p.Glu158=)
c.699A>G (p.Glu233=)
c.849A>G (p.Glu283=)
c.459A>G (p.Glu153=)
c.48A>G (p.Glu16=)
2g.206144957T>GCA350057371NDUFS1c.807A>C (p.Glu269Asp)
c.636A>C (p.Glu212Asp)
c.474A>C (p.Glu158Asp)
c.699A>C (p.Glu233Asp)
c.849A>C (p.Glu283Asp)
c.459A>C (p.Glu153Asp)
c.48A>C (p.Glu16Asp)
2g.206144958T>ACA350057373NDUFS1c.806A>T (p.Glu269Val)
c.635A>T (p.Glu212Val)
c.473A>T (p.Glu158Val)
c.698A>T (p.Glu233Val)
c.848A>T (p.Glu283Val)
c.458A>T (p.Glu153Val)
c.47A>T (p.Glu16Val)
2g.206144958T>CCA350057378NDUFS1c.806A>G (p.Glu269Gly)
c.635A>G (p.Glu212Gly)
c.473A>G (p.Glu158Gly)
c.698A>G (p.Glu233Gly)
c.848A>G (p.Glu283Gly)
c.458A>G (p.Glu153Gly)
c.47A>G (p.Glu16Gly)
2g.206144958T>GCA350057377NDUFS1c.806A>C (p.Glu269Ala)
c.635A>C (p.Glu212Ala)
c.473A>C (p.Glu158Ala)
c.698A>C (p.Glu233Ala)
c.848A>C (p.Glu283Ala)
c.458A>C (p.Glu153Ala)
c.47A>C (p.Glu16Ala)
2g.206144959C>ACA350057379NDUFS1c.805G>T (p.Glu269Ter)
c.634G>T (p.Glu212Ter)
c.472G>T (p.Glu158Ter)
c.697G>T (p.Glu233Ter)
c.847G>T (p.Glu283Ter)
c.457G>T (p.Glu153Ter)
c.46G>T (p.Glu16Ter)
 gnomAD v4
2g.206144959C=CA2496487383NDUFS1c.805G= (p.Glu269=)
c.634G= (p.Glu212=)
c.472G= (p.Glu158=)
c.697G= (p.Glu233=)
c.847G= (p.Glu283=)
c.457G= (p.Glu153=)
c.46G= (p.Glu16=)
2g.206144959C>GCA350057381NDUFS1c.805G>C (p.Glu269Gln)
c.634G>C (p.Glu212Gln)
c.472G>C (p.Glu158Gln)
c.697G>C (p.Glu233Gln)
c.847G>C (p.Glu283Gln)
c.457G>C (p.Glu153Gln)
c.46G>C (p.Glu16Gln)
2g.206144959C>TCA350057382NDUFS1c.805G>A (p.Glu269Lys)
c.634G>A (p.Glu212Lys)
c.472G>A (p.Glu158Lys)
c.697G>A (p.Glu233Lys)
c.847G>A (p.Glu283Lys)
c.457G>A (p.Glu153Lys)
c.46G>A (p.Glu16Lys)
 dbSNP COSMIC
2g.206144960T>ACA430953010NDUFS1c.804A>T (p.Gly268=)
c.633A>T (p.Gly211=)
c.471A>T (p.Gly157=)
c.696A>T (p.Gly232=)
c.846A>T (p.Gly282=)
c.456A>T (p.Gly152=)
c.45A>T (p.Gly15=)
2g.206144960T>CCA430953015NDUFS1c.804A>G (p.Gly268=)
c.633A>G (p.Gly211=)
c.471A>G (p.Gly157=)
c.696A>G (p.Gly232=)
c.846A>G (p.Gly282=)
c.456A>G (p.Gly152=)
c.45A>G (p.Gly15=)
2g.206144960T>GCA430953012NDUFS1c.804A>C (p.Gly268=)
c.633A>C (p.Gly211=)
c.471A>C (p.Gly157=)
c.696A>C (p.Gly232=)
c.846A>C (p.Gly282=)
c.456A>C (p.Gly152=)
c.45A>C (p.Gly15=)
 dbSNP gnomAD v3 gnomAD v4
2g.206144960T=CA2496487384NDUFS1c.804A= (p.Gly268=)
c.633A= (p.Gly211=)
c.471A= (p.Gly157=)
c.696A= (p.Gly232=)
c.846A= (p.Gly282=)
c.456A= (p.Gly152=)
c.45A= (p.Gly15=)
2g.206144961C>ACA350057393NDUFS1c.803G>T (p.Gly268Val)
c.632G>T (p.Gly211Val)
c.470G>T (p.Gly157Val)
c.695G>T (p.Gly232Val)
c.845G>T (p.Gly282Val)
c.455G>T (p.Gly152Val)
c.44G>T (p.Gly15Val)
2g.206144961C>GCA350057396NDUFS1c.803G>C (p.Gly268Ala)
c.632G>C (p.Gly211Ala)
c.470G>C (p.Gly157Ala)
c.695G>C (p.Gly232Ala)
c.845G>C (p.Gly282Ala)
c.455G>C (p.Gly152Ala)
c.44G>C (p.Gly15Ala)
2g.206144961C>TCA350057398NDUFS1c.803G>A (p.Gly268Glu)
c.632G>A (p.Gly211Glu)
c.470G>A (p.Gly157Glu)
c.695G>A (p.Gly232Glu)
c.845G>A (p.Gly282Glu)
c.455G>A (p.Gly152Glu)
c.44G>A (p.Gly15Glu)
 gnomAD v4
2g.206144962C>ACA350057405NDUFS1c.802G>T (p.Gly268Ter)
c.631G>T (p.Gly211Ter)
c.469G>T (p.Gly157Ter)
c.694G>T (p.Gly232Ter)
c.844G>T (p.Gly282Ter)
c.454G>T (p.Gly152Ter)
c.43G>T (p.Gly15Ter)
2g.206144962C=CA2496487385NDUFS1c.802G= (p.Gly268=)
c.631G= (p.Gly211=)
c.469G= (p.Gly157=)
c.694G= (p.Gly232=)
c.844G= (p.Gly282=)
c.454G= (p.Gly152=)
c.43G= (p.Gly15=)
2g.206144962C>GCA350057408NDUFS1c.802G>C (p.Gly268Arg)
c.631G>C (p.Gly211Arg)
c.469G>C (p.Gly157Arg)
c.694G>C (p.Gly232Arg)
c.844G>C (p.Gly282Arg)
c.454G>C (p.Gly152Arg)
c.43G>C (p.Gly15Arg)
2g.206144962C>TCA350057409NDUFS1c.802G>A (p.Gly268Arg)
c.631G>A (p.Gly211Arg)
c.469G>A (p.Gly157Arg)
c.694G>A (p.Gly232Arg)
c.844G>A (p.Gly282Arg)
c.454G>A (p.Gly152Arg)
c.43G>A (p.Gly15Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.206144963A>CCA430953037NDUFS1c.801T>G (p.Thr267=)
c.630T>G (p.Thr210=)
c.468T>G (p.Thr156=)
c.693T>G (p.Thr231=)
c.843T>G (p.Thr281=)
c.453T>G (p.Thr151=)
c.42T>G (p.Thr14=)
2g.206144963A>GCA430953039NDUFS1c.801T>C (p.Thr267=)
c.630T>C (p.Thr210=)
c.468T>C (p.Thr156=)
c.693T>C (p.Thr231=)
c.843T>C (p.Thr281=)
c.453T>C (p.Thr151=)
c.42T>C (p.Thr14=)
2g.206144963A>TCA430953043NDUFS1c.801T>A (p.Thr267=)
c.630T>A (p.Thr210=)
c.468T>A (p.Thr156=)
c.693T>A (p.Thr231=)
c.843T>A (p.Thr281=)
c.453T>A (p.Thr151=)
c.42T>A (p.Thr14=)
2g.206144964G>ACA350057410NDUFS1c.800C>T (p.Thr267Ile)
c.629C>T (p.Thr210Ile)
c.467C>T (p.Thr156Ile)
c.692C>T (p.Thr231Ile)
c.842C>T (p.Thr281Ile)
c.452C>T (p.Thr151Ile)
c.41C>T (p.Thr14Ile)
2g.206144964G>CCA350057411NDUFS1c.800C>G (p.Thr267Ser)
c.629C>G (p.Thr210Ser)
c.467C>G (p.Thr156Ser)
c.692C>G (p.Thr231Ser)
c.842C>G (p.Thr281Ser)
c.452C>G (p.Thr151Ser)
c.41C>G (p.Thr14Ser)
 dbSNP
2g.206144964G=CA2496487386NDUFS1c.800C= (p.Thr267=)
c.629C= (p.Thr210=)
c.467C= (p.Thr156=)
c.692C= (p.Thr231=)
c.842C= (p.Thr281=)
c.452C= (p.Thr151=)
c.41C= (p.Thr14=)
2g.206144964G>TCA350057414NDUFS1c.800C>A (p.Thr267Asn)
c.629C>A (p.Thr210Asn)
c.467C>A (p.Thr156Asn)
c.692C>A (p.Thr231Asn)
c.842C>A (p.Thr281Asn)
c.452C>A (p.Thr151Asn)
c.41C>A (p.Thr14Asn)
2g.206144965T>ACA350057419NDUFS1c.799A>T (p.Thr267Ser)
c.628A>T (p.Thr210Ser)
c.466A>T (p.Thr156Ser)
c.691A>T (p.Thr231Ser)
c.841A>T (p.Thr281Ser)
c.451A>T (p.Thr151Ser)
c.40A>T (p.Thr14Ser)
2g.206144965T>CCA350057415NDUFS1c.799A>G (p.Thr267Ala)
c.628A>G (p.Thr210Ala)
c.466A>G (p.Thr156Ala)
c.691A>G (p.Thr231Ala)
c.841A>G (p.Thr281Ala)
c.451A>G (p.Thr151Ala)
c.40A>G (p.Thr14Ala)
2g.206144965T>GCA63665054NDUFS1c.799A>C (p.Thr267Pro)
c.628A>C (p.Thr210Pro)
c.466A>C (p.Thr156Pro)
c.691A>C (p.Thr231Pro)
c.841A>C (p.Thr281Pro)
c.451A>C (p.Thr151Pro)
c.40A>C (p.Thr14Pro)
 dbSNP
2g.206144965T=CA2496487387NDUFS1c.799A= (p.Thr267=)
c.628A= (p.Thr210=)
c.466A= (p.Thr156=)
c.691A= (p.Thr231=)
c.841A= (p.Thr281=)
c.451A= (p.Thr151=)
c.40A= (p.Thr14=)
2g.206144966T>ACA350057420NDUFS1c.798A>T (p.Arg266Ser)
c.627A>T (p.Arg209Ser)
c.465A>T (p.Arg155Ser)
c.690A>T (p.Arg230Ser)
c.840A>T (p.Arg280Ser)
c.450A>T (p.Arg150Ser)
c.39A>T (p.Arg13Ser)
2g.206144966T>CCA430953063NDUFS1c.798A>G (p.Arg266=)
c.627A>G (p.Arg209=)
c.465A>G (p.Arg155=)
c.690A>G (p.Arg230=)
c.840A>G (p.Arg280=)
c.450A>G (p.Arg150=)
c.39A>G (p.Arg13=)
 dbSNP
2g.206144966T>GCA350057421NDUFS1c.798A>C (p.Arg266Ser)
c.627A>C (p.Arg209Ser)
c.465A>C (p.Arg155Ser)
c.690A>C (p.Arg230Ser)
c.840A>C (p.Arg280Ser)
c.450A>C (p.Arg150Ser)
c.39A>C (p.Arg13Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.206144966T=CA2496487388NDUFS1c.798A= (p.Arg266=)
c.627A= (p.Arg209=)
c.465A= (p.Arg155=)
c.690A= (p.Arg230=)
c.840A= (p.Arg280=)
c.450A= (p.Arg150=)
c.39A= (p.Arg13=)
2g.206144966_206144967insTATTTAAAGGAAACA2496487389NDUFS1c.797_798insTTTCCTTTAAATA (p.Arg266SerfsTer4)
c.626_627insTTTCCTTTAAATA (p.Arg209SerfsTer4)
c.464_465insTTTCCTTTAAATA (p.Arg155SerfsTer4)
c.689_690insTTTCCTTTAAATA (p.Arg230SerfsTer4)
c.839_840insTTTCCTTTAAATA (p.Arg280SerfsTer4)
c.449_450insTTTCCTTTAAATA (p.Arg150SerfsTer4)
c.38_39insTTTCCTTTAAATA (p.Arg13SerfsTer4)
 dbSNP
2g.206144967C>ACA350057423NDUFS1c.797G>T (p.Arg266Ile)
c.626G>T (p.Arg209Ile)
c.464G>T (p.Arg155Ile)
c.689G>T (p.Arg230Ile)
c.839G>T (p.Arg280Ile)
c.449G>T (p.Arg150Ile)
c.38G>T (p.Arg13Ile)
2g.206144967C=CA2496487390NDUFS1c.797G= (p.Arg266=)
c.626G= (p.Arg209=)
c.464G= (p.Arg155=)
c.689G= (p.Arg230=)
c.839G= (p.Arg280=)
c.449G= (p.Arg150=)
c.38G= (p.Arg13=)
2g.206144967C>GCA63665068NDUFS1c.797G>C (p.Arg266Thr)
c.626G>C (p.Arg209Thr)
c.464G>C (p.Arg155Thr)
c.689G>C (p.Arg230Thr)
c.839G>C (p.Arg280Thr)
c.449G>C (p.Arg150Thr)
c.38G>C (p.Arg13Thr)
 dbSNP gnomAD v4 COSMIC
2g.206144967C>TCA350057430NDUFS1c.797G>A (p.Arg266Lys)
c.626G>A (p.Arg209Lys)
c.464G>A (p.Arg155Lys)
c.689G>A (p.Arg230Lys)
c.839G>A (p.Arg280Lys)
c.449G>A (p.Arg150Lys)
c.38G>A (p.Arg13Lys)
 dbSNP
2g.206144968T>ACA350057431NDUFS1c.796A>T (p.Arg266Ter)
c.625A>T (p.Arg209Ter)
c.463A>T (p.Arg155Ter)
c.688A>T (p.Arg230Ter)
c.838A>T (p.Arg280Ter)
c.448A>T (p.Arg150Ter)
c.37A>T (p.Arg13Ter)
2g.206144968T>CCA350057432NDUFS1c.796A>G (p.Arg266Gly)
c.625A>G (p.Arg209Gly)
c.463A>G (p.Arg155Gly)
c.688A>G (p.Arg230Gly)
c.838A>G (p.Arg280Gly)
c.448A>G (p.Arg150Gly)
c.37A>G (p.Arg13Gly)
2g.206144968T>GCA430953080NDUFS1c.796A>C (p.Arg266=)
c.625A>C (p.Arg209=)
c.463A>C (p.Arg155=)
c.688A>C (p.Arg230=)
c.838A>C (p.Arg280=)
c.448A>C (p.Arg150=)
c.37A>C (p.Arg13=)
2g.206144969_206144970insCTCCAGTAATATTCA2577222172NDUFS1c.796_797insTATTACTGGAGAA (p.Arg266IlefsTer18)
c.625_626insTATTACTGGAGAA (p.Arg209IlefsTer18)
c.463_464insTATTACTGGAGAA (p.Arg155IlefsTer18)
c.688_689insTATTACTGGAGAA (p.Arg230IlefsTer18)
c.838_839insTATTACTGGAGAA (p.Arg280IlefsTer18)
c.448_449insTATTACTGGAGAA (p.Arg150IlefsTer18)
c.37_38insTATTACTGGAGAA (p.Arg13IlefsTer18)
2g.206144969T>ACA430953082NDUFS1c.795A>T (p.Thr265=)
c.624A>T (p.Thr208=)
c.462A>T (p.Thr154=)
c.687A>T (p.Thr229=)
c.837A>T (p.Thr279=)
c.447A>T (p.Thr149=)
c.36A>T (p.Thr12=)
2g.206144969T>CCA430953083NDUFS1c.795A>G (p.Thr265=)
c.624A>G (p.Thr208=)
c.462A>G (p.Thr154=)
c.687A>G (p.Thr229=)
c.837A>G (p.Thr279=)
c.447A>G (p.Thr149=)
c.36A>G (p.Thr12=)
2g.206144969T>GCA430953086NDUFS1c.795A>C (p.Thr265=)
c.624A>C (p.Thr208=)
c.462A>C (p.Thr154=)
c.687A>C (p.Thr229=)
c.837A>C (p.Thr279=)
c.447A>C (p.Thr149=)
c.36A>C (p.Thr12=)
2g.206144970G>ACA350057435NDUFS1c.794C>T (p.Thr265Ile)
c.623C>T (p.Thr208Ile)
c.461C>T (p.Thr154Ile)
c.686C>T (p.Thr229Ile)
c.836C>T (p.Thr279Ile)
c.446C>T (p.Thr149Ile)
c.35C>T (p.Thr12Ile)
2g.206144970G>CCA350057441NDUFS1c.794C>G (p.Thr265Arg)
c.623C>G (p.Thr208Arg)
c.461C>G (p.Thr154Arg)
c.686C>G (p.Thr229Arg)
c.836C>G (p.Thr279Arg)
c.446C>G (p.Thr149Arg)
c.35C>G (p.Thr12Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.206144970G=CA2496487391NDUFS1c.794C= (p.Thr265=)
c.623C= (p.Thr208=)
c.461C= (p.Thr154=)
c.686C= (p.Thr229=)
c.836C= (p.Thr279=)
c.446C= (p.Thr149=)
c.35C= (p.Thr12=)
2g.206144970G>TCA350057442NDUFS1c.794C>A (p.Thr265Lys)
c.623C>A (p.Thr208Lys)
c.461C>A (p.Thr154Lys)
c.686C>A (p.Thr229Lys)
c.836C>A (p.Thr279Lys)
c.446C>A (p.Thr149Lys)
c.35C>A (p.Thr12Lys)
2g.206144971T>ACA350057443NDUFS1c.793A>T (p.Thr265Ser)
c.622A>T (p.Thr208Ser)
c.460A>T (p.Thr154Ser)
c.685A>T (p.Thr229Ser)
c.835A>T (p.Thr279Ser)
c.445A>T (p.Thr149Ser)
c.34A>T (p.Thr12Ser)
2g.206144971T>CCA350057444NDUFS1c.793A>G (p.Thr265Ala)
c.622A>G (p.Thr208Ala)
c.460A>G (p.Thr154Ala)
c.685A>G (p.Thr229Ala)
c.835A>G (p.Thr279Ala)
c.445A>G (p.Thr149Ala)
c.34A>G (p.Thr12Ala)
 gnomAD v4
2g.206144971T>GCA350057448NDUFS1c.793A>C (p.Thr265Pro)
c.622A>C (p.Thr208Pro)
c.460A>C (p.Thr154Pro)
c.685A>C (p.Thr229Pro)
c.835A>C (p.Thr279Pro)
c.445A>C (p.Thr149Pro)
c.34A>C (p.Thr12Pro)
2g.206144972G>ACA430953122NDUFS1c.792C>T (p.Ser264=)
c.621C>T (p.Ser207=)
c.459C>T (p.Ser153=)
c.684C>T (p.Ser228=)
c.834C>T (p.Ser278=)
c.444C>T (p.Ser148=)
c.33C>T (p.Ser11=)
2g.206144972G>CCA350057450NDUFS1c.792C>G (p.Ser264Arg)
c.621C>G (p.Ser207Arg)
c.459C>G (p.Ser153Arg)
c.684C>G (p.Ser228Arg)
c.834C>G (p.Ser278Arg)
c.444C>G (p.Ser148Arg)
c.33C>G (p.Ser11Arg)
2g.206144972G>TCA350057451NDUFS1c.792C>A (p.Ser264Arg)
c.621C>A (p.Ser207Arg)
c.459C>A (p.Ser153Arg)
c.684C>A (p.Ser228Arg)
c.834C>A (p.Ser278Arg)
c.444C>A (p.Ser148Arg)
c.33C>A (p.Ser11Arg)
2g.206144973C>ACA350057452NDUFS1c.791G>T (p.Ser264Ile)
c.620G>T (p.Ser207Ile)
c.458G>T (p.Ser153Ile)
c.683G>T (p.Ser228Ile)
c.833G>T (p.Ser278Ile)
c.443G>T (p.Ser148Ile)
c.32G>T (p.Ser11Ile)
2g.206144973C>GCA350057453NDUFS1c.791G>C (p.Ser264Thr)
c.620G>C (p.Ser207Thr)
c.458G>C (p.Ser153Thr)
c.683G>C (p.Ser228Thr)
c.833G>C (p.Ser278Thr)
c.443G>C (p.Ser148Thr)
c.32G>C (p.Ser11Thr)
2g.206144973C>TCA350057456NDUFS1c.791G>A (p.Ser264Asn)
c.620G>A (p.Ser207Asn)
c.458G>A (p.Ser153Asn)
c.683G>A (p.Ser228Asn)
c.833G>A (p.Ser278Asn)
c.443G>A (p.Ser148Asn)
c.32G>A (p.Ser11Asn)
 gnomAD v4
2g.206144974T>ACA350057460NDUFS1c.790A>T (p.Ser264Cys)
c.619A>T (p.Ser207Cys)
c.457A>T (p.Ser153Cys)
c.682A>T (p.Ser228Cys)
c.832A>T (p.Ser278Cys)
c.442A>T (p.Ser148Cys)
c.31A>T (p.Ser11Cys)
2g.206144974T>CCA350057462NDUFS1c.790A>G (p.Ser264Gly)
c.619A>G (p.Ser207Gly)
c.457A>G (p.Ser153Gly)
c.682A>G (p.Ser228Gly)
c.832A>G (p.Ser278Gly)
c.442A>G (p.Ser148Gly)
c.31A>G (p.Ser11Gly)
 gnomAD v4
2g.206144974T>GCA350057467NDUFS1c.790A>C (p.Ser264Arg)
c.619A>C (p.Ser207Arg)
c.457A>C (p.Ser153Arg)
c.682A>C (p.Ser228Arg)
c.832A>C (p.Ser278Arg)
c.442A>C (p.Ser148Arg)
c.31A>C (p.Ser11Arg)
2g.206144975A=CA2496487392NDUFS1c.789T= (p.Val263=)
c.618T= (p.Val206=)
c.456T= (p.Val152=)
c.681T= (p.Val227=)
c.831T= (p.Val277=)
c.441T= (p.Val147=)
c.30T= (p.Val10=)
2g.206144975A>CCA2070653NDUFS1c.789T>G (p.Val263=)
c.618T>G (p.Val206=)
c.456T>G (p.Val152=)
c.681T>G (p.Val227=)
c.831T>G (p.Val277=)
c.441T>G (p.Val147=)
c.30T>G (p.Val10=)
 dbSNP ExAC gnomAD v2
2g.206144975A>GCA430953166NDUFS1c.789T>C (p.Val263=)
c.618T>C (p.Val206=)
c.456T>C (p.Val152=)
c.681T>C (p.Val227=)
c.831T>C (p.Val277=)
c.441T>C (p.Val147=)
c.30T>C (p.Val10=)
2g.206144975A>TCA430953169NDUFS1c.789T>A (p.Val263=)
c.618T>A (p.Val206=)
c.456T>A (p.Val152=)
c.681T>A (p.Val227=)
c.831T>A (p.Val277=)
c.441T>A (p.Val147=)
c.30T>A (p.Val10=)
2g.206144976A>CCA350057468NDUFS1c.788T>G (p.Val263Gly)
c.617T>G (p.Val206Gly)
c.455T>G (p.Val152Gly)
c.680T>G (p.Val227Gly)
c.830T>G (p.Val277Gly)
c.440T>G (p.Val147Gly)
c.29T>G (p.Val10Gly)
2g.206144976A>GCA350057470NDUFS1c.788T>C (p.Val263Ala)
c.617T>C (p.Val206Ala)
c.455T>C (p.Val152Ala)
c.680T>C (p.Val227Ala)
c.830T>C (p.Val277Ala)
c.440T>C (p.Val147Ala)
c.29T>C (p.Val10Ala)
2g.206144976A>TCA350057474NDUFS1c.788T>A (p.Val263Asp)
c.617T>A (p.Val206Asp)
c.455T>A (p.Val152Asp)
c.680T>A (p.Val227Asp)
c.830T>A (p.Val277Asp)
c.440T>A (p.Val147Asp)
c.29T>A (p.Val10Asp)
2g.206144977C>ACA350057477NDUFS1c.787G>T (p.Val263Phe)
c.616G>T (p.Val206Phe)
c.454G>T (p.Val152Phe)
c.679G>T (p.Val227Phe)
c.829G>T (p.Val277Phe)
c.439G>T (p.Val147Phe)
c.28G>T (p.Val10Phe)
2g.206144977C=CA2496487393NDUFS1c.787G= (p.Val263=)
c.616G= (p.Val206=)
c.454G= (p.Val152=)
c.679G= (p.Val227=)
c.829G= (p.Val277=)
c.439G= (p.Val147=)
c.28G= (p.Val10=)
2g.206144977C>GCA350057486NDUFS1c.787G>C (p.Val263Leu)
c.616G>C (p.Val206Leu)
c.454G>C (p.Val152Leu)
c.679G>C (p.Val227Leu)
c.829G>C (p.Val277Leu)
c.439G>C (p.Val147Leu)
c.28G>C (p.Val10Leu)
2g.206144977C>TCA350057489NDUFS1c.787G>A (p.Val263Ile)
c.616G>A (p.Val206Ile)
c.454G>A (p.Val152Ile)
c.679G>A (p.Val227Ile)
c.829G>A (p.Val277Ile)
c.439G>A (p.Val147Ile)
c.28G>A (p.Val10Ile)
 dbSNP
2g.206144978C>ACA430953191NDUFS1c.786G>T (p.Val262=)
c.615G>T (p.Val205=)
c.453G>T (p.Val151=)
c.678G>T (p.Val226=)
c.828G>T (p.Val276=)
c.438G>T (p.Val146=)
c.27G>T (p.Val9=)
2g.206144978C>GCA430953194NDUFS1c.786G>C (p.Val262=)
c.615G>C (p.Val205=)
c.453G>C (p.Val151=)
c.678G>C (p.Val226=)
c.828G>C (p.Val276=)
c.438G>C (p.Val146=)
c.27G>C (p.Val9=)
2g.206144978C>TCA430953199NDUFS1c.786G>A (p.Val262=)
c.615G>A (p.Val205=)
c.453G>A (p.Val151=)
c.678G>A (p.Val226=)
c.828G>A (p.Val276=)
c.438G>A (p.Val146=)
c.27G>A (p.Val9=)
2g.206144979A=CA2496487394NDUFS1c.785T= (p.Val262=)
c.614T= (p.Val205=)
c.452T= (p.Val151=)
c.677T= (p.Val226=)
c.827T= (p.Val276=)
c.437T= (p.Val146=)
c.26T= (p.Val9=)
2g.206144979A>CCA350057498NDUFS1c.785T>G (p.Val262Gly)
c.614T>G (p.Val205Gly)
c.452T>G (p.Val151Gly)
c.677T>G (p.Val226Gly)
c.827T>G (p.Val276Gly)
c.437T>G (p.Val146Gly)
c.26T>G (p.Val9Gly)
2g.206144979A>GCA2070654NDUFS1c.785T>C (p.Val262Ala)
c.614T>C (p.Val205Ala)
c.452T>C (p.Val151Ala)
c.677T>C (p.Val226Ala)
c.827T>C (p.Val276Ala)
c.437T>C (p.Val146Ala)
c.26T>C (p.Val9Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144979A>TCA350057496NDUFS1c.785T>A (p.Val262Glu)
c.614T>A (p.Val205Glu)
c.452T>A (p.Val151Glu)
c.677T>A (p.Val226Glu)
c.827T>A (p.Val276Glu)
c.437T>A (p.Val146Glu)
c.26T>A (p.Val9Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.206144980C>ACA350057500NDUFS1c.784G>T (p.Val262Leu)
c.613G>T (p.Val205Leu)
c.451G>T (p.Val151Leu)
c.676G>T (p.Val226Leu)
c.826G>T (p.Val276Leu)
c.436G>T (p.Val146Leu)
c.25G>T (p.Val9Leu)
2g.206144980C>GCA350057503NDUFS1c.784G>C (p.Val262Leu)
c.613G>C (p.Val205Leu)
c.451G>C (p.Val151Leu)
c.676G>C (p.Val226Leu)
c.826G>C (p.Val276Leu)
c.436G>C (p.Val146Leu)
c.25G>C (p.Val9Leu)
2g.206144980C>TCA350057505NDUFS1c.784G>A (p.Val262Met)
c.613G>A (p.Val205Met)
c.451G>A (p.Val151Met)
c.676G>A (p.Val226Met)
c.826G>A (p.Val276Met)
c.436G>A (p.Val146Met)
c.25G>A (p.Val9Met)
 gnomAD v4
2g.206144981A>CCA350057508NDUFS1c.783T>G (p.Ile261Met)
c.612T>G (p.Ile204Met)
c.450T>G (p.Ile150Met)
c.675T>G (p.Ile225Met)
c.825T>G (p.Ile275Met)
c.435T>G (p.Ile145Met)
c.24T>G (p.Ile8Met)
2g.206144981A>GCA430953237NDUFS1c.783T>C (p.Ile261=)
c.612T>C (p.Ile204=)
c.450T>C (p.Ile150=)
c.675T>C (p.Ile225=)
c.825T>C (p.Ile275=)
c.435T>C (p.Ile145=)
c.24T>C (p.Ile8=)
2g.206144981A>TCA430953234NDUFS1c.783T>A (p.Ile261=)
c.612T>A (p.Ile204=)
c.450T>A (p.Ile150=)
c.675T>A (p.Ile225=)
c.825T>A (p.Ile275=)
c.435T>A (p.Ile145=)
c.24T>A (p.Ile8=)
2g.206144982A=CA2496487395NDUFS1c.782T= (p.Ile261=)
c.611T= (p.Ile204=)
c.449T= (p.Ile150=)
c.674T= (p.Ile225=)
c.824T= (p.Ile275=)
c.434T= (p.Ile145=)
c.23T= (p.Ile8=)
2g.206144982A>CCA350057511NDUFS1c.782T>G (p.Ile261Ser)
c.611T>G (p.Ile204Ser)
c.449T>G (p.Ile150Ser)
c.674T>G (p.Ile225Ser)
c.824T>G (p.Ile275Ser)
c.434T>G (p.Ile145Ser)
c.23T>G (p.Ile8Ser)
2g.206144982A>GCA350057513NDUFS1c.782T>C (p.Ile261Thr)
c.611T>C (p.Ile204Thr)
c.449T>C (p.Ile150Thr)
c.674T>C (p.Ile225Thr)
c.824T>C (p.Ile275Thr)
c.434T>C (p.Ile145Thr)
c.23T>C (p.Ile8Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206144982A>TCA350057516NDUFS1c.782T>A (p.Ile261Asn)
c.611T>A (p.Ile204Asn)
c.449T>A (p.Ile150Asn)
c.674T>A (p.Ile225Asn)
c.824T>A (p.Ile275Asn)
c.434T>A (p.Ile145Asn)
c.23T>A (p.Ile8Asn)
2g.206144983T>ACA2070655NDUFS1c.781A>T (p.Ile261Phe)
c.610A>T (p.Ile204Phe)
c.448A>T (p.Ile150Phe)
c.673A>T (p.Ile225Phe)
c.823A>T (p.Ile275Phe)
c.433A>T (p.Ile145Phe)
c.22A>T (p.Ile8Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144983T>CCA350057519NDUFS1c.781A>G (p.Ile261Val)
c.610A>G (p.Ile204Val)
c.448A>G (p.Ile150Val)
c.673A>G (p.Ile225Val)
c.823A>G (p.Ile275Val)
c.433A>G (p.Ile145Val)
c.22A>G (p.Ile8Val)
 dbSNP gnomAD v3 gnomAD v4
2g.206144983T>GCA350057520NDUFS1c.781A>C (p.Ile261Leu)
c.610A>C (p.Ile204Leu)
c.448A>C (p.Ile150Leu)
c.673A>C (p.Ile225Leu)
c.823A>C (p.Ile275Leu)
c.433A>C (p.Ile145Leu)
c.22A>C (p.Ile8Leu)
 gnomAD v4
2g.206144983T=CA2496487396NDUFS1c.781A= (p.Ile261=)
c.610A= (p.Ile204=)
c.448A= (p.Ile150=)
c.673A= (p.Ile225=)
c.823A= (p.Ile275=)
c.433A= (p.Ile145=)
c.22A= (p.Ile8=)
2g.206144983dupCA763756046NDUFS1c.781dup (p.Ile261AsnfsTer4)
c.610dup (p.Ile204AsnfsTer4)
c.448dup (p.Ile150AsnfsTer4)
c.673dup (p.Ile225AsnfsTer4)
c.823dup (p.Ile275AsnfsTer4)
c.433dup (p.Ile145AsnfsTer4)
c.22dup (p.Ile8AsnfsTer4)
 dbSNP gnomAD v4
2g.206144984A=CA2496487397NDUFS1c.780T= (p.Asn260=)
c.609T= (p.Asn203=)
c.447T= (p.Asn149=)
c.672T= (p.Asn224=)
c.822T= (p.Asn274=)
c.432T= (p.Asn144=)
c.21T= (p.Asn7=)
2g.206144984A>CCA350057525NDUFS1c.780T>G (p.Asn260Lys)
c.609T>G (p.Asn203Lys)
c.447T>G (p.Asn149Lys)
c.672T>G (p.Asn224Lys)
c.822T>G (p.Asn274Lys)
c.432T>G (p.Asn144Lys)
c.21T>G (p.Asn7Lys)
2g.206144984A>GCA430953260NDUFS1c.780T>C (p.Asn260=)
c.609T>C (p.Asn203=)
c.447T>C (p.Asn149=)
c.672T>C (p.Asn224=)
c.822T>C (p.Asn274=)
c.432T>C (p.Asn144=)
c.21T>C (p.Asn7=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206144984A>TCA350057527NDUFS1c.780T>A (p.Asn260Lys)
c.609T>A (p.Asn203Lys)
c.447T>A (p.Asn149Lys)
c.672T>A (p.Asn224Lys)
c.822T>A (p.Asn274Lys)
c.432T>A (p.Asn144Lys)
c.21T>A (p.Asn7Lys)
2g.206144985T>ACA350057531NDUFS1c.779A>T (p.Asn260Ile)
c.608A>T (p.Asn203Ile)
c.446A>T (p.Asn149Ile)
c.671A>T (p.Asn224Ile)
c.821A>T (p.Asn274Ile)
c.431A>T (p.Asn144Ile)
c.20A>T (p.Asn7Ile)
2g.206144985T>CCA2070656NDUFS1c.779A>G (p.Asn260Ser)
c.608A>G (p.Asn203Ser)
c.446A>G (p.Asn149Ser)
c.671A>G (p.Asn224Ser)
c.821A>G (p.Asn274Ser)
c.431A>G (p.Asn144Ser)
c.20A>G (p.Asn7Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144985T>GCA350057533NDUFS1c.779A>C (p.Asn260Thr)
c.608A>C (p.Asn203Thr)
c.446A>C (p.Asn149Thr)
c.671A>C (p.Asn224Thr)
c.821A>C (p.Asn274Thr)
c.431A>C (p.Asn144Thr)
c.20A>C (p.Asn7Thr)
2g.206144985T=CA2496487398NDUFS1c.779A= (p.Asn260=)
c.608A= (p.Asn203=)
c.446A= (p.Asn149=)
c.671A= (p.Asn224=)
c.821A= (p.Asn274=)
c.431A= (p.Asn144=)
c.20A= (p.Asn7=)
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)

Number of alleles fetched