Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77933301C>ACA340876569NEXNc.1073C>A (p.Pro358Gln)
c.881C>A (p.Pro294Gln)
c.772C>A
c.1031C>A (p.Pro344Gln)
n.533C>A
n.647C>A
c.839C>A (p.Pro280Gln)
c.656C>A (p.Pro219Gln)
1g.77933301C=CA1177626682NEXNc.1073C= (p.Pro358=)
c.881C= (p.Pro294=)
c.772C=
c.1031C= (p.Pro344=)
n.533C=
n.647C=
c.839C= (p.Pro280=)
c.656C= (p.Pro219=)
1g.77933301C>GCA340876571NEXNc.1073C>G (p.Pro358Arg)
c.881C>G (p.Pro294Arg)
c.772C>G
c.1031C>G (p.Pro344Arg)
n.533C>G
n.647C>G
c.839C>G (p.Pro280Arg)
c.656C>G (p.Pro219Arg)
1g.77933301C>TCA918801NEXNc.1073C>T (p.Pro358Leu)
c.881C>T (p.Pro294Leu)
c.772C>T
c.1031C>T (p.Pro344Leu)
n.533C>T
n.647C>T
c.839C>T (p.Pro280Leu)
c.656C>T (p.Pro219Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933302A>CCA418572042NEXNc.1074A>C (p.Pro358=)
c.882A>C (p.Pro294=)
c.773A>C
c.1032A>C (p.Pro344=)
n.534A>C
n.648A>C
c.840A>C (p.Pro280=)
c.657A>C (p.Pro219=)
1g.77933302A>GCA418572043NEXNc.1074A>G (p.Pro358=)
c.882A>G (p.Pro294=)
c.773A>G
c.1032A>G (p.Pro344=)
n.534A>G
n.648A>G
c.840A>G (p.Pro280=)
c.657A>G (p.Pro219=)
1g.77933302A>TCA418572044NEXNc.1074A>T (p.Pro358=)
c.882A>T (p.Pro294=)
c.773A>T
c.1032A>T (p.Pro344=)
n.534A>T
n.648A>T
c.840A>T (p.Pro280=)
c.657A>T (p.Pro219=)
1g.77933303G>ACA340876579NEXNc.1075G>A (p.Glu359Lys)
c.883G>A (p.Glu295Lys)
c.774G>A
c.1033G>A (p.Glu345Lys)
n.535G>A
n.649G>A
c.841G>A (p.Glu281Lys)
c.658G>A (p.Glu220Lys)
1g.77933303G>CCA340876581NEXNc.1075G>C (p.Glu359Gln)
c.883G>C (p.Glu295Gln)
c.774G>C
c.1033G>C (p.Glu345Gln)
n.535G>C
n.649G>C
c.841G>C (p.Glu281Gln)
c.658G>C (p.Glu220Gln)
1g.77933303G>TCA340876577NEXNc.1075G>T (p.Glu359Ter)
c.883G>T (p.Glu295Ter)
c.774G>T
c.1033G>T (p.Glu345Ter)
n.535G>T
n.649G>T
c.841G>T (p.Glu281Ter)
c.658G>T (p.Glu220Ter)
1g.77933304A>CCA340876583NEXNc.1076A>C (p.Glu359Ala)
c.884A>C (p.Glu295Ala)
c.775A>C
c.1034A>C (p.Glu345Ala)
n.536A>C
n.650A>C
c.842A>C (p.Glu281Ala)
c.659A>C (p.Glu220Ala)
1g.77933304A>GCA340876582NEXNc.1076A>G (p.Glu359Gly)
c.884A>G (p.Glu295Gly)
c.775A>G
c.1034A>G (p.Glu345Gly)
n.536A>G
n.650A>G
c.842A>G (p.Glu281Gly)
c.659A>G (p.Glu220Gly)
1g.77933304A>TCA340876585NEXNc.1076A>T (p.Glu359Val)
c.884A>T (p.Glu295Val)
c.775A>T
c.1034A>T (p.Glu345Val)
n.536A>T
n.650A>T
c.842A>T (p.Glu281Val)
c.659A>T (p.Glu220Val)
1g.77933305G>ACA418572045NEXNc.1077G>A (p.Glu359=)
c.885G>A (p.Glu295=)
c.776G>A
c.1035G>A (p.Glu345=)
n.537G>A
n.651G>A
c.843G>A (p.Glu281=)
c.660G>A (p.Glu220=)
1g.77933305G>CCA340876587NEXNc.1077G>C (p.Glu359Asp)
c.885G>C (p.Glu295Asp)
c.776G>C
c.1035G>C (p.Glu345Asp)
n.537G>C
n.651G>C
c.843G>C (p.Glu281Asp)
c.660G>C (p.Glu220Asp)
1g.77933305G=CA1177626683NEXNc.1077G= (p.Glu359=)
c.885G= (p.Glu295=)
c.776G=
c.1035G= (p.Glu345=)
n.537G=
n.651G=
c.843G= (p.Glu281=)
c.660G= (p.Glu220=)
1g.77933305G>TCA340876589NEXNc.1077G>T (p.Glu359Asp)
c.885G>T (p.Glu295Asp)
c.776G>T
c.1035G>T (p.Glu345Asp)
n.537G>T
n.651G>T
c.843G>T (p.Glu281Asp)
c.660G>T (p.Glu220Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.77933306A>CCA340876590NEXNc.1078A>C (p.Met360Leu)
c.886A>C (p.Met296Leu)
c.777A>C
c.1036A>C (p.Met346Leu)
n.538A>C
n.652A>C
c.844A>C (p.Met282Leu)
c.661A>C (p.Met221Leu)
1g.77933306A>GCA340876591NEXNc.1078A>G (p.Met360Val)
c.886A>G (p.Met296Val)
c.777A>G
c.1036A>G (p.Met346Val)
n.538A>G
n.652A>G
c.844A>G (p.Met282Val)
c.661A>G (p.Met221Val)
 gnomAD v4
1g.77933306A>TCA340876593NEXNc.1078A>T (p.Met360Leu)
c.886A>T (p.Met296Leu)
c.777A>T
c.1036A>T (p.Met346Leu)
n.538A>T
n.652A>T
c.844A>T (p.Met282Leu)
c.661A>T (p.Met221Leu)
 gnomAD v4
1g.77933307T>ACA340876594NEXNc.1079T>A (p.Met360Lys)
c.887T>A (p.Met296Lys)
c.778T>A
c.1037T>A (p.Met346Lys)
n.539T>A
n.653T>A
c.845T>A (p.Met282Lys)
c.662T>A (p.Met221Lys)
1g.77933307T>CCA340876596NEXNc.1079T>C (p.Met360Thr)
c.887T>C (p.Met296Thr)
c.778T>C
c.1037T>C (p.Met346Thr)
n.539T>C
n.653T>C
c.845T>C (p.Met282Thr)
c.662T>C (p.Met221Thr)
 gnomAD v4
1g.77933307T>GCA340876598NEXNc.1079T>G (p.Met360Arg)
c.887T>G (p.Met296Arg)
c.778T>G
c.1037T>G (p.Met346Arg)
n.539T>G
n.653T>G
c.845T>G (p.Met282Arg)
c.662T>G (p.Met221Arg)
1g.77933308G>ACA340876599NEXNc.1080G>A (p.Met360Ile)
c.888G>A (p.Met296Ile)
c.779G>A
c.1038G>A (p.Met346Ile)
n.540G>A
n.654G>A
c.846G>A (p.Met282Ile)
c.663G>A (p.Met221Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.77933308G>CCA340876600NEXNc.1080G>C (p.Met360Ile)
c.888G>C (p.Met296Ile)
c.779G>C
c.1038G>C (p.Met346Ile)
n.540G>C
n.654G>C
c.846G>C (p.Met282Ile)
c.663G>C (p.Met221Ile)
1g.77933308G=CA1177626685NEXNc.1080G= (p.Met360=)
c.888G= (p.Met296=)
c.779G=
c.1038G= (p.Met346=)
n.540G=
n.654G=
c.846G= (p.Met282=)
c.663G= (p.Met221=)
1g.77933308G>TCA340876601NEXNc.1080G>T (p.Met360Ile)
c.888G>T (p.Met296Ile)
c.779G>T
c.1038G>T (p.Met346Ile)
n.540G>T
n.654G>T
c.846G>T (p.Met282Ile)
c.663G>T (p.Met221Ile)
1g.77933309T>ACA340876602NEXNc.1081T>A (p.Tyr361Asn)
c.889T>A (p.Tyr297Asn)
c.780T>A
c.1039T>A (p.Tyr347Asn)
n.541T>A
n.655T>A
c.847T>A (p.Tyr283Asn)
c.664T>A (p.Tyr222Asn)
1g.77933309T>CCA340876603NEXNc.1081T>C (p.Tyr361His)
c.889T>C (p.Tyr297His)
c.780T>C
c.1039T>C (p.Tyr347His)
n.541T>C
n.655T>C
c.847T>C (p.Tyr283His)
c.664T>C (p.Tyr222His)
1g.77933309T>GCA340876604NEXNc.1081T>G (p.Tyr361Asp)
c.889T>G (p.Tyr297Asp)
c.780T>G
c.1039T>G (p.Tyr347Asp)
n.541T>G
n.655T>G
c.847T>G (p.Tyr283Asp)
c.664T>G (p.Tyr222Asp)
1g.77933310A=CA1145347785NEXNc.1082A= (p.Tyr361=)
c.890A= (p.Tyr297=)
c.781A=
c.1040A= (p.Tyr347=)
n.542A=
n.656A=
c.848A= (p.Tyr283=)
c.665A= (p.Tyr222=)
1g.77933310A>CCA340876605NEXNc.1082A>C (p.Tyr361Ser)
c.890A>C (p.Tyr297Ser)
c.781A>C
c.1040A>C (p.Tyr347Ser)
n.542A>C
n.656A>C
c.848A>C (p.Tyr283Ser)
c.665A>C (p.Tyr222Ser)
1g.77933310A>GCA24684109NEXNc.1082A>G (p.Tyr361Cys)
c.890A>G (p.Tyr297Cys)
c.781A>G
c.1040A>G (p.Tyr347Cys)
n.542A>G
n.656A>G
c.848A>G (p.Tyr283Cys)
c.665A>G (p.Tyr222Cys)
 dbSNP gnomAD v4
1g.77933310A>TCA340876606NEXNc.1082A>T (p.Tyr361Phe)
c.890A>T (p.Tyr297Phe)
c.781A>T
c.1040A>T (p.Tyr347Phe)
n.542A>T
n.656A>T
c.848A>T (p.Tyr283Phe)
c.665A>T (p.Tyr222Phe)
1g.77933311T>ACA340876608NEXNc.1083T>A (p.Tyr361Ter)
c.891T>A (p.Tyr297Ter)
c.782T>A
c.1041T>A (p.Tyr347Ter)
n.543T>A
n.657T>A
c.849T>A (p.Tyr283Ter)
c.666T>A (p.Tyr222Ter)
1g.77933311T>CCA16610154NEXNc.1083T>C (p.Tyr361=)
c.891T>C (p.Tyr297=)
c.782T>C
c.1041T>C (p.Tyr347=)
n.543T>C
n.657T>C
c.849T>C (p.Tyr283=)
c.666T>C (p.Tyr222=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77933311T>GCA340876611NEXNc.1083T>G (p.Tyr361Ter)
c.891T>G (p.Tyr297Ter)
c.782T>G
c.1041T>G (p.Tyr347Ter)
n.543T>G
n.657T>G
c.849T>G (p.Tyr283Ter)
c.666T>G (p.Tyr222Ter)
1g.77933311T=CA1177626687NEXNc.1083T= (p.Tyr361=)
c.891T= (p.Tyr297=)
c.782T=
c.1041T= (p.Tyr347=)
n.543T=
n.657T=
c.849T= (p.Tyr283=)
c.666T= (p.Tyr222=)
1g.77933312A=CA1177626688NEXNc.1084A= (p.Lys362=)
c.892A= (p.Lys298=)
c.783A=
c.1042A= (p.Lys348=)
n.544A=
n.658A=
c.850A= (p.Lys284=)
c.667A= (p.Lys223=)
1g.77933312A>CCA918802NEXNc.1084A>C (p.Lys362Gln)
c.892A>C (p.Lys298Gln)
c.783A>C
c.1042A>C (p.Lys348Gln)
n.544A>C
n.658A>C
c.850A>C (p.Lys284Gln)
c.667A>C (p.Lys223Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933312A>GCA340876613NEXNc.1084A>G (p.Lys362Glu)
c.892A>G (p.Lys298Glu)
c.783A>G
c.1042A>G (p.Lys348Glu)
n.544A>G
n.658A>G
c.850A>G (p.Lys284Glu)
c.667A>G (p.Lys223Glu)
1g.77933312A>TCA340876615NEXNc.1084A>T (p.Lys362Ter)
c.892A>T (p.Lys298Ter)
c.783A>T
c.1042A>T (p.Lys348Ter)
n.544A>T
n.658A>T
c.850A>T (p.Lys284Ter)
c.667A>T (p.Lys223Ter)
 ClinVar
1g.77933313delCA2574414088NEXNc.1085del (p.Lys362ArgfsTer21)
c.893del (p.Lys298ArgfsTer21)
c.784del
c.1043del (p.Lys348ArgfsTer21)
n.545del
n.659del
c.851del (p.Lys284ArgfsTer21)
c.668del (p.Lys223ArgfsTer21)
1g.77933313A>CCA340876625NEXNc.1085A>C (p.Lys362Thr)
c.893A>C (p.Lys298Thr)
c.784A>C
c.1043A>C (p.Lys348Thr)
n.545A>C
n.659A>C
c.851A>C (p.Lys284Thr)
c.668A>C (p.Lys223Thr)
1g.77933313A>GCA340876626NEXNc.1085A>G (p.Lys362Arg)
c.893A>G (p.Lys298Arg)
c.784A>G
c.1043A>G (p.Lys348Arg)
n.545A>G
n.659A>G
c.851A>G (p.Lys284Arg)
c.668A>G (p.Lys223Arg)
1g.77933313A>TCA340876628NEXNc.1085A>T (p.Lys362Met)
c.893A>T (p.Lys298Met)
c.784A>T
c.1043A>T (p.Lys348Met)
n.545A>T
n.659A>T
c.851A>T (p.Lys284Met)
c.668A>T (p.Lys223Met)
1g.77933314G>ACA418572046NEXNc.1086G>A (p.Lys362=)
c.894G>A (p.Lys298=)
c.785G>A
c.1044G>A (p.Lys348=)
n.546G>A
n.660G>A
c.852G>A (p.Lys284=)
c.669G>A (p.Lys223=)
1g.77933314G>CCA340876631NEXNc.1086G>C (p.Lys362Asn)
c.894G>C (p.Lys298Asn)
c.785G>C
c.1044G>C (p.Lys348Asn)
n.546G>C
n.660G>C
c.852G>C (p.Lys284Asn)
c.669G>C (p.Lys223Asn)
1g.77933314G>TCA340876632NEXNc.1086G>T (p.Lys362Asn)
c.894G>T (p.Lys298Asn)
c.785G>T
c.1044G>T (p.Lys348Asn)
n.546G>T
n.660G>T
c.852G>T (p.Lys284Asn)
c.669G>T (p.Lys223Asn)
 gnomAD v4
1g.77933315A>CCA340876636NEXNc.1087A>C (p.Thr363Pro)
c.895A>C (p.Thr299Pro)
c.786A>C
c.1045A>C (p.Thr349Pro)
n.547A>C
n.661A>C
c.853A>C (p.Thr285Pro)
c.670A>C (p.Thr224Pro)
1g.77933315A>GCA340876638NEXNc.1087A>G (p.Thr363Ala)
c.895A>G (p.Thr299Ala)
c.786A>G
c.1045A>G (p.Thr349Ala)
n.547A>G
n.661A>G
c.853A>G (p.Thr285Ala)
c.670A>G (p.Thr224Ala)
1g.77933315A>TCA340876634NEXNc.1087A>T (p.Thr363Ser)
c.895A>T (p.Thr299Ser)
c.786A>T
c.1045A>T (p.Thr349Ser)
n.547A>T
n.661A>T
c.853A>T (p.Thr285Ser)
c.670A>T (p.Thr224Ser)
1g.77933316C>ACA340876639NEXNc.1088C>A (p.Thr363Lys)
c.896C>A (p.Thr299Lys)
c.787C>A
c.1046C>A (p.Thr349Lys)
n.548C>A
n.662C>A
c.854C>A (p.Thr285Lys)
c.671C>A (p.Thr224Lys)
1g.77933316C=CA1148876825NEXNc.1088C= (p.Thr363=)
c.896C= (p.Thr299=)
c.787C=
c.1046C= (p.Thr349=)
n.548C=
n.662C=
c.854C= (p.Thr285=)
c.671C= (p.Thr224=)
1g.77933316C>GCA918803NEXNc.1088C>G (p.Thr363Arg)
c.896C>G (p.Thr299Arg)
c.787C>G
c.1046C>G (p.Thr349Arg)
n.548C>G
n.662C>G
c.854C>G (p.Thr285Arg)
c.671C>G (p.Thr224Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933316C>TCA340876642NEXNc.1088C>T (p.Thr363Ile)
c.896C>T (p.Thr299Ile)
c.787C>T
c.1046C>T (p.Thr349Ile)
n.548C>T
n.662C>T
c.854C>T (p.Thr285Ile)
c.671C>T (p.Thr224Ile)
 ClinVar dbSNP
1g.77933317A=CA1177626692NEXNc.1089A= (p.Thr363=)
c.897A= (p.Thr299=)
c.788A=
c.1047A= (p.Thr349=)
n.549A=
n.663A=
c.855A= (p.Thr285=)
c.672A= (p.Thr224=)
1g.77933317A>CCA10581817NEXNc.1089A>C (p.Thr363=)
c.897A>C (p.Thr299=)
c.788A>C
c.1047A>C (p.Thr349=)
n.549A>C
n.663A>C
c.855A>C (p.Thr285=)
c.672A>C (p.Thr224=)
 ClinVar dbSNP gnomAD v4
1g.77933317A>GCA418572048NEXNc.1089A>G (p.Thr363=)
c.897A>G (p.Thr299=)
c.788A>G
c.1047A>G (p.Thr349=)
n.549A>G
n.663A>G
c.855A>G (p.Thr285=)
c.672A>G (p.Thr224=)
1g.77933317A>TCA418572047NEXNc.1089A>T (p.Thr363=)
c.897A>T (p.Thr299=)
c.788A>T
c.1047A>T (p.Thr349=)
n.549A>T
n.663A>T
c.855A>T (p.Thr285=)
c.672A>T (p.Thr224=)
1g.77933318A>CCA340876646NEXNc.1090A>C (p.Ile364Leu)
c.898A>C (p.Ile300Leu)
c.789A>C
c.1048A>C (p.Ile350Leu)
n.550A>C
n.664A>C
c.856A>C (p.Ile286Leu)
c.673A>C (p.Ile225Leu)
1g.77933318A>GCA340876648NEXNc.1090A>G (p.Ile364Val)
c.898A>G (p.Ile300Val)
c.789A>G
c.1048A>G (p.Ile350Val)
n.550A>G
n.664A>G
c.856A>G (p.Ile286Val)
c.673A>G (p.Ile225Val)
 gnomAD v4
1g.77933318A>TCA340876652NEXNc.1090A>T (p.Ile364Phe)
c.898A>T (p.Ile300Phe)
c.789A>T
c.1048A>T (p.Ile350Phe)
n.550A>T
n.664A>T
c.856A>T (p.Ile286Phe)
c.673A>T (p.Ile225Phe)
1g.77933319T>ACA340876655NEXNc.1091T>A (p.Ile364Asn)
c.899T>A (p.Ile300Asn)
c.790T>A
c.1049T>A (p.Ile350Asn)
n.551T>A
n.665T>A
c.857T>A (p.Ile286Asn)
c.674T>A (p.Ile225Asn)
 gnomAD v4
1g.77933319T>CCA340876659NEXNc.1091T>C (p.Ile364Thr)
c.899T>C (p.Ile300Thr)
c.790T>C
c.1049T>C (p.Ile350Thr)
n.551T>C
n.665T>C
c.857T>C (p.Ile286Thr)
c.674T>C (p.Ile225Thr)
 gnomAD v4
1g.77933319T>GCA340876657NEXNc.1091T>G (p.Ile364Ser)
c.899T>G (p.Ile300Ser)
c.790T>G
c.1049T>G (p.Ile350Ser)
n.551T>G
n.665T>G
c.857T>G (p.Ile286Ser)
c.674T>G (p.Ile225Ser)
1g.77933320C>ACA418572049NEXNc.1092C>A (p.Ile364=)
c.900C>A (p.Ile300=)
c.791C>A
c.1050C>A (p.Ile350=)
n.552C>A
n.666C>A
c.858C>A (p.Ile286=)
c.675C>A (p.Ile225=)
 dbSNP gnomAD v3 gnomAD v4
1g.77933320C=CA1177626696NEXNc.1092C= (p.Ile364=)
c.900C= (p.Ile300=)
c.791C=
c.1050C= (p.Ile350=)
n.552C=
n.666C=
c.858C= (p.Ile286=)
c.675C= (p.Ile225=)
1g.77933320C>GCA340876660NEXNc.1092C>G (p.Ile364Met)
c.900C>G (p.Ile300Met)
c.791C>G
c.1050C>G (p.Ile350Met)
n.552C>G
n.666C>G
c.858C>G (p.Ile286Met)
c.675C>G (p.Ile225Met)
1g.77933320C>TCA418572050NEXNc.1092C>T (p.Ile364=)
c.900C>T (p.Ile300=)
c.791C>T
c.1050C>T (p.Ile350=)
n.552C>T
n.666C>T
c.858C>T (p.Ile286=)
c.675C>T (p.Ile225=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933321T>ACA340876661NEXNc.1093T>A (p.Ser365Thr)
c.901T>A (p.Ser301Thr)
c.792T>A
c.1051T>A (p.Ser351Thr)
n.553T>A
n.667T>A
c.859T>A (p.Ser287Thr)
c.676T>A (p.Ser226Thr)
1g.77933321T>CCA340876662NEXNc.1093T>C (p.Ser365Pro)
c.901T>C (p.Ser301Pro)
c.792T>C
c.1051T>C (p.Ser351Pro)
n.553T>C
n.667T>C
c.859T>C (p.Ser287Pro)
c.676T>C (p.Ser226Pro)
1g.77933321T>GCA340876663NEXNc.1093T>G (p.Ser365Ala)
c.901T>G (p.Ser301Ala)
c.792T>G
c.1051T>G (p.Ser351Ala)
n.553T>G
n.667T>G
c.859T>G (p.Ser287Ala)
c.676T>G (p.Ser226Ala)
1g.77933322C>ACA340876664NEXNc.1094C>A (p.Ser365Tyr)
c.902C>A (p.Ser301Tyr)
c.793C>A
c.1052C>A (p.Ser351Tyr)
n.554C>A
n.668C>A
c.860C>A (p.Ser287Tyr)
c.677C>A (p.Ser226Tyr)
1g.77933322C=CA1177626698NEXNc.1094C= (p.Ser365=)
c.902C= (p.Ser301=)
c.793C=
c.1052C= (p.Ser351=)
n.554C=
n.668C=
c.860C= (p.Ser287=)
c.677C= (p.Ser226=)
1g.77933322C>GCA335406NEXNc.1094C>G (p.Ser365Cys)
c.902C>G (p.Ser301Cys)
c.793C>G
c.1052C>G (p.Ser351Cys)
n.554C>G
n.668C>G
c.860C>G (p.Ser287Cys)
c.677C>G (p.Ser226Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933322C>TCA340876665NEXNc.1094C>T (p.Ser365Phe)
c.902C>T (p.Ser301Phe)
c.793C>T
c.1052C>T (p.Ser351Phe)
n.554C>T
n.668C>T
c.860C>T (p.Ser287Phe)
c.677C>T (p.Ser226Phe)
1g.77933323T>ACA418572051NEXNc.1095T>A (p.Ser365=)
c.903T>A (p.Ser301=)
c.794T>A
c.1053T>A (p.Ser351=)
n.555T>A
n.669T>A
c.861T>A (p.Ser287=)
c.678T>A (p.Ser226=)
1g.77933323T>CCA418572052NEXNc.1095T>C (p.Ser365=)
c.903T>C (p.Ser301=)
c.794T>C
c.1053T>C (p.Ser351=)
n.555T>C
n.669T>C
c.861T>C (p.Ser287=)
c.678T>C (p.Ser226=)
1g.77933323T>GCA418572053NEXNc.1095T>G (p.Ser365=)
c.903T>G (p.Ser301=)
c.794T>G
c.1053T>G (p.Ser351=)
n.555T>G
n.669T>G
c.861T>G (p.Ser287=)
c.678T>G (p.Ser226=)
1g.77933324C>ACA340876666NEXNc.1096C>A (p.Gln366Lys)
c.904C>A (p.Gln302Lys)
c.795C>A
c.1054C>A (p.Gln352Lys)
n.556C>A
n.670C>A
c.862C>A (p.Gln288Lys)
c.679C>A (p.Gln227Lys)
1g.77933324C>GCA340876668NEXNc.1096C>G (p.Gln366Glu)
c.904C>G (p.Gln302Glu)
c.795C>G
c.1054C>G (p.Gln352Glu)
n.556C>G
n.670C>G
c.862C>G (p.Gln288Glu)
c.679C>G (p.Gln227Glu)
1g.77933324C>TCA340876670NEXNc.1096C>T (p.Gln366Ter)
c.904C>T (p.Gln302Ter)
c.795C>T
c.1054C>T (p.Gln352Ter)
n.556C>T
n.670C>T
c.862C>T (p.Gln288Ter)
c.679C>T (p.Gln227Ter)
 gnomAD v4
1g.77933325A>CCA340876671NEXNc.1097A>C (p.Gln366Pro)
c.905A>C (p.Gln302Pro)
c.796A>C
c.1055A>C (p.Gln352Pro)
n.557A>C
n.671A>C
c.863A>C (p.Gln288Pro)
c.680A>C (p.Gln227Pro)
 gnomAD v4
1g.77933325A>GCA340876673NEXNc.1097A>G (p.Gln366Arg)
c.905A>G (p.Gln302Arg)
c.796A>G
c.1055A>G (p.Gln352Arg)
n.557A>G
n.671A>G
c.863A>G (p.Gln288Arg)
c.680A>G (p.Gln227Arg)
1g.77933325A>TCA340876675NEXNc.1097A>T (p.Gln366Leu)
c.905A>T (p.Gln302Leu)
c.796A>T
c.1055A>T (p.Gln352Leu)
n.557A>T
n.671A>T
c.863A>T (p.Gln288Leu)
c.680A>T (p.Gln227Leu)
1g.77933326A>CCA340876676NEXNc.1098A>C (p.Gln366His)
c.906A>C (p.Gln302His)
c.797A>C
c.1056A>C (p.Gln352His)
n.558A>C
n.672A>C
c.864A>C (p.Gln288His)
c.681A>C (p.Gln227His)
1g.77933326A>GCA418572054NEXNc.1098A>G (p.Gln366=)
c.906A>G (p.Gln302=)
c.797A>G
c.1056A>G (p.Gln352=)
n.558A>G
n.672A>G
c.864A>G (p.Gln288=)
c.681A>G (p.Gln227=)
1g.77933326A>TCA340876678NEXNc.1098A>T (p.Gln366His)
c.906A>T (p.Gln302His)
c.797A>T
c.1056A>T (p.Gln352His)
n.558A>T
n.672A>T
c.864A>T (p.Gln288His)
c.681A>T (p.Gln227His)
 gnomAD v4
1g.77933327G>ACA918804NEXNc.1099G>A (p.Glu367Lys)
c.907G>A (p.Glu303Lys)
c.798G>A
c.1057G>A (p.Glu353Lys)
n.559G>A
n.673G>A
c.865G>A (p.Glu289Lys)
c.682G>A (p.Glu228Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.77933327G>CCA340876679NEXNc.1099G>C (p.Glu367Gln)
c.907G>C (p.Glu303Gln)
c.798G>C
c.1057G>C (p.Glu353Gln)
n.559G>C
n.673G>C
c.865G>C (p.Glu289Gln)
c.682G>C (p.Glu228Gln)
1g.77933327G=CA1177626700NEXNc.1099G= (p.Glu367=)
c.907G= (p.Glu303=)
c.798G=
c.1057G= (p.Glu353=)
n.559G=
n.673G=
c.865G= (p.Glu289=)
c.682G= (p.Glu228=)
1g.77933327G>TCA340876682NEXNc.1099G>T (p.Glu367Ter)
c.907G>T (p.Glu303Ter)
c.798G>T
c.1057G>T (p.Glu353Ter)
n.559G>T
n.673G>T
c.865G>T (p.Glu289Ter)
c.682G>T (p.Glu228Ter)
1g.77933328A=CA1177626702NEXNc.1100A= (p.Glu367=)
c.908A= (p.Glu303=)
c.799A=
c.1058A= (p.Glu353=)
n.560A=
n.674A=
c.866A= (p.Glu289=)
c.683A= (p.Glu228=)
1g.77933328A>CCA340876688NEXNc.1100A>C (p.Glu367Ala)
c.908A>C (p.Glu303Ala)
c.799A>C
c.1058A>C (p.Glu353Ala)
n.560A>C
n.674A>C
c.866A>C (p.Glu289Ala)
c.683A>C (p.Glu228Ala)
1g.77933328A>GCA340876686NEXNc.1100A>G (p.Glu367Gly)
c.908A>G (p.Glu303Gly)
c.799A>G
c.1058A>G (p.Glu353Gly)
n.560A>G
n.674A>G
c.866A>G (p.Glu289Gly)
c.683A>G (p.Glu228Gly)
 dbSNP gnomAD v4
1g.77933328A>TCA340876684NEXNc.1100A>T (p.Glu367Val)
c.908A>T (p.Glu303Val)
c.799A>T
c.1058A>T (p.Glu353Val)
n.560A>T
n.674A>T
c.866A>T (p.Glu289Val)
c.683A>T (p.Glu228Val)
1g.77933329A>CCA340876689NEXNc.1101A>C (p.Glu367Asp)
c.909A>C (p.Glu303Asp)
c.800A>C
c.1059A>C (p.Glu353Asp)
n.561A>C
n.675A>C
c.867A>C (p.Glu289Asp)
c.684A>C (p.Glu228Asp)
1g.77933329A>GCA418572055NEXNc.1101A>G (p.Glu367=)
c.909A>G (p.Glu303=)
c.800A>G
c.1059A>G (p.Glu353=)
n.561A>G
n.675A>G
c.867A>G (p.Glu289=)
c.684A>G (p.Glu228=)
1g.77933329A>TCA340876691NEXNc.1101A>T (p.Glu367Asp)
c.909A>T (p.Glu303Asp)
c.800A>T
c.1059A>T (p.Glu353Asp)
n.561A>T
n.675A>T
c.867A>T (p.Glu289Asp)
c.684A>T (p.Glu228Asp)
1g.77933330T>ACA340876694NEXNc.1102T>A (p.Phe368Ile)
c.910T>A (p.Phe304Ile)
c.801T>A
c.1060T>A (p.Phe354Ile)
n.562T>A
n.676T>A
c.868T>A (p.Phe290Ile)
c.685T>A (p.Phe229Ile)
1g.77933330T>CCA340876695NEXNc.1102T>C (p.Phe368Leu)
c.910T>C (p.Phe304Leu)
c.801T>C
c.1060T>C (p.Phe354Leu)
n.562T>C
n.676T>C
c.868T>C (p.Phe290Leu)
c.685T>C (p.Phe229Leu)
 gnomAD v4
1g.77933330T>GCA340876697NEXNc.1102T>G (p.Phe368Val)
c.910T>G (p.Phe304Val)
c.801T>G
c.1060T>G (p.Phe354Val)
n.562T>G
n.676T>G
c.868T>G (p.Phe290Val)
c.685T>G (p.Phe229Val)
1g.77933331T>ACA340876700NEXNc.1103T>A (p.Phe368Tyr)
c.911T>A (p.Phe304Tyr)
c.802T>A
c.1061T>A (p.Phe354Tyr)
n.563T>A
n.677T>A
c.869T>A (p.Phe290Tyr)
c.686T>A (p.Phe229Tyr)
1g.77933331T>CCA340876701NEXNc.1103T>C (p.Phe368Ser)
c.911T>C (p.Phe304Ser)
c.802T>C
c.1061T>C (p.Phe354Ser)
n.563T>C
n.677T>C
c.869T>C (p.Phe290Ser)
c.686T>C (p.Phe229Ser)
1g.77933331T>GCA340876702NEXNc.1103T>G (p.Phe368Cys)
c.911T>G (p.Phe304Cys)
c.802T>G
c.1061T>G (p.Phe354Cys)
n.563T>G
n.677T>G
c.869T>G (p.Phe290Cys)
c.686T>G (p.Phe229Cys)
1g.77933332T>ACA340876703NEXNc.1104T>A (p.Phe368Leu)
c.912T>A (p.Phe304Leu)
c.803T>A
c.1062T>A (p.Phe354Leu)
n.564T>A
n.678T>A
c.870T>A (p.Phe290Leu)
c.687T>A (p.Phe229Leu)
1g.77933332T>CCA418572056NEXNc.1104T>C (p.Phe368=)
c.912T>C (p.Phe304=)
c.803T>C
c.1062T>C (p.Phe354=)
n.564T>C
n.678T>C
c.870T>C (p.Phe290=)
c.687T>C (p.Phe229=)
1g.77933332T>GCA340876704NEXNc.1104T>G (p.Phe368Leu)
c.912T>G (p.Phe304Leu)
c.803T>G
c.1062T>G (p.Phe354Leu)
n.564T>G
n.678T>G
c.870T>G (p.Phe290Leu)
c.687T>G (p.Phe229Leu)
1g.77933333C>ACA340876705NEXNc.1105C>A (p.Leu369Ile)
c.913C>A (p.Leu305Ile)
c.804C>A
c.1063C>A (p.Leu355Ile)
n.565C>A
n.679C>A
c.871C>A (p.Leu291Ile)
c.688C>A (p.Leu230Ile)
1g.77933333C>GCA340876706NEXNc.1105C>G (p.Leu369Val)
c.913C>G (p.Leu305Val)
c.804C>G
c.1063C>G (p.Leu355Val)
n.565C>G
n.679C>G
c.871C>G (p.Leu291Val)
c.688C>G (p.Leu230Val)
1g.77933333C>TCA340876707NEXNc.1105C>T (p.Leu369Phe)
c.913C>T (p.Leu305Phe)
c.804C>T
c.1063C>T (p.Leu355Phe)
n.565C>T
n.679C>T
c.871C>T (p.Leu291Phe)
c.688C>T (p.Leu230Phe)
1g.77933334T>ACA340876710NEXNc.1106T>A (p.Leu369His)
c.914T>A (p.Leu305His)
c.805T>A
c.1064T>A (p.Leu355His)
n.566T>A
n.680T>A
c.872T>A (p.Leu291His)
c.689T>A (p.Leu230His)
1g.77933334T>CCA340876709NEXNc.1106T>C (p.Leu369Pro)
c.914T>C (p.Leu305Pro)
c.805T>C
c.1064T>C (p.Leu355Pro)
n.566T>C
n.680T>C
c.872T>C (p.Leu291Pro)
c.689T>C (p.Leu230Pro)
1g.77933334T>GCA340876708NEXNc.1106T>G (p.Leu369Arg)
c.914T>G (p.Leu305Arg)
c.805T>G
c.1064T>G (p.Leu355Arg)
n.566T>G
n.680T>G
c.872T>G (p.Leu291Arg)
c.689T>G (p.Leu230Arg)
1g.77933335T>ACA418572057NEXNc.1107T>A (p.Leu369=)
c.915T>A (p.Leu305=)
c.806T>A
c.1065T>A (p.Leu355=)
n.567T>A
n.681T>A
c.873T>A (p.Leu291=)
c.690T>A (p.Leu230=)
1g.77933335T>CCA418572058NEXNc.1107T>C (p.Leu369=)
c.915T>C (p.Leu305=)
c.806T>C
c.1065T>C (p.Leu355=)
n.567T>C
n.681T>C
c.873T>C (p.Leu291=)
c.690T>C (p.Leu230=)
1g.77933335T>GCA418572059NEXNc.1107T>G (p.Leu369=)
c.915T>G (p.Leu305=)
c.806T>G
c.1065T>G (p.Leu355=)
n.567T>G
n.681T>G
c.873T>G (p.Leu291=)
c.690T>G (p.Leu230=)
1g.77933336A=CA1177626703NEXNc.1108A= (p.Thr370=)
c.916A= (p.Thr306=)
c.807A=
c.1066A= (p.Thr356=)
n.568A=
n.682A=
c.874A= (p.Thr292=)
c.691A= (p.Thr231=)
1g.77933336A>CCA340876711NEXNc.1108A>C (p.Thr370Pro)
c.916A>C (p.Thr306Pro)
c.807A>C
c.1066A>C (p.Thr356Pro)
n.568A>C
n.682A>C
c.874A>C (p.Thr292Pro)
c.691A>C (p.Thr231Pro)
1g.77933336A>GCA340876712NEXNc.1108A>G (p.Thr370Ala)
c.916A>G (p.Thr306Ala)
c.807A>G
c.1066A>G (p.Thr356Ala)
n.568A>G
n.682A>G
c.874A>G (p.Thr292Ala)
c.691A>G (p.Thr231Ala)
 ClinVar dbSNP
1g.77933336A>TCA340876713NEXNc.1108A>T (p.Thr370Ser)
c.916A>T (p.Thr306Ser)
c.807A>T
c.1066A>T (p.Thr356Ser)
n.568A>T
n.682A>T
c.874A>T (p.Thr292Ser)
c.691A>T (p.Thr231Ser)
1g.77933337C>ACA340876714NEXNc.1109C>A (p.Thr370Lys)
c.917C>A (p.Thr306Lys)
c.808C>A
c.1067C>A (p.Thr356Lys)
n.569C>A
n.683C>A
c.875C>A (p.Thr292Lys)
c.692C>A (p.Thr231Lys)
1g.77933337C>GCA340876715NEXNc.1109C>G (p.Thr370Arg)
c.917C>G (p.Thr306Arg)
c.808C>G
c.1067C>G (p.Thr356Arg)
n.569C>G
n.683C>G
c.875C>G (p.Thr292Arg)
c.692C>G (p.Thr231Arg)
1g.77933337C>TCA340876716NEXNc.1109C>T (p.Thr370Ile)
c.917C>T (p.Thr306Ile)
c.808C>T
c.1067C>T (p.Thr356Ile)
n.569C>T
n.683C>T
c.875C>T (p.Thr292Ile)
c.692C>T (p.Thr231Ile)
1g.77933338A=CA1145570309NEXNc.1110A= (p.Thr370=)
c.918A= (p.Thr306=)
c.809A=
c.1068A= (p.Thr356=)
n.570A=
n.684A=
c.876A= (p.Thr292=)
c.693A= (p.Thr231=)
1g.77933338A>CCA418572060NEXNc.1110A>C (p.Thr370=)
c.918A>C (p.Thr306=)
c.809A>C
c.1068A>C (p.Thr356=)
n.570A>C
n.684A>C
c.876A>C (p.Thr292=)
c.693A>C (p.Thr231=)
1g.77933338A>GCA418572061NEXNc.1110A>G (p.Thr370=)
c.918A>G (p.Thr306=)
c.809A>G
c.1068A>G (p.Thr356=)
n.570A>G
n.684A>G
c.876A>G (p.Thr292=)
c.693A>G (p.Thr231=)
1g.77933338A>TCA918805NEXNc.1110A>T (p.Thr370=)
c.918A>T (p.Thr306=)
c.809A>T
c.1068A>T (p.Thr356=)
n.570A>T
n.684A>T
c.876A>T (p.Thr292=)
c.693A>T (p.Thr231=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933339C>ACA340876717NEXNc.1111C>A (p.Pro371Thr)
c.919C>A (p.Pro307Thr)
c.810C>A
c.1069C>A (p.Pro357Thr)
n.571C>A
n.685C>A
c.877C>A (p.Pro293Thr)
c.694C>A (p.Pro232Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933339C=CA1177626706NEXNc.1111C= (p.Pro371=)
c.919C= (p.Pro307=)
c.810C=
c.1069C= (p.Pro357=)
n.571C=
n.685C=
c.877C= (p.Pro293=)
c.694C= (p.Pro232=)
1g.77933339C>GCA340876718NEXNc.1111C>G (p.Pro371Ala)
c.919C>G (p.Pro307Ala)
c.810C>G
c.1069C>G (p.Pro357Ala)
n.571C>G
n.685C>G
c.877C>G (p.Pro293Ala)
c.694C>G (p.Pro232Ala)
1g.77933339C>TCA340876719NEXNc.1111C>T (p.Pro371Ser)
c.919C>T (p.Pro307Ser)
c.810C>T
c.1069C>T (p.Pro357Ser)
n.571C>T
n.685C>T
c.877C>T (p.Pro293Ser)
c.694C>T (p.Pro232Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.77933340C>ACA24684201NEXNc.1112C>A (p.Pro371Gln)
c.920C>A (p.Pro307Gln)
c.811C>A
c.1070C>A (p.Pro357Gln)
n.572C>A
n.686C>A
c.878C>A (p.Pro293Gln)
c.695C>A (p.Pro232Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933340C=CA1143393216NEXNc.1112C= (p.Pro371=)
c.920C= (p.Pro307=)
c.811C=
c.1070C= (p.Pro357=)
n.572C=
n.686C=
c.878C= (p.Pro293=)
c.695C= (p.Pro232=)
1g.77933340C>GCA340876720NEXNc.1112C>G (p.Pro371Arg)
c.920C>G (p.Pro307Arg)
c.811C>G
c.1070C>G (p.Pro357Arg)
n.572C>G
n.686C>G
c.878C>G (p.Pro293Arg)
c.695C>G (p.Pro232Arg)
1g.77933340C>TCA142104NEXNc.1112C>T (p.Pro371Leu)
c.920C>T (p.Pro307Leu)
c.811C>T
c.1070C>T (p.Pro357Leu)
n.572C>T
n.686C>T
c.878C>T (p.Pro293Leu)
c.695C>T (p.Pro232Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933341G>ACA918806NEXNc.1113G>A (p.Pro371=)
c.921G>A (p.Pro307=)
c.812G>A
c.1071G>A (p.Pro357=)
n.573G>A
n.687G>A
c.879G>A (p.Pro293=)
c.696G>A (p.Pro232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.77933341G>CCA418572062NEXNc.1113G>C (p.Pro371=)
c.921G>C (p.Pro307=)
c.812G>C
c.1071G>C (p.Pro357=)
n.573G>C
n.687G>C
c.879G>C (p.Pro293=)
c.696G>C (p.Pro232=)
1g.77933341G=CA1177626711NEXNc.1113G= (p.Pro371=)
c.921G= (p.Pro307=)
c.812G=
c.1071G= (p.Pro357=)
n.573G=
n.687G=
c.879G= (p.Pro293=)
c.696G= (p.Pro232=)
1g.77933341G>TCA418572063NEXNc.1113G>T (p.Pro371=)
c.921G>T (p.Pro307=)
c.812G>T
c.1071G>T (p.Pro357=)
n.573G>T
n.687G>T
c.879G>T (p.Pro293=)
c.696G>T (p.Pro232=)
 gnomAD v4
1g.77933342G>ACA340876722NEXNc.1114G>A (p.Gly372Arg)
c.922G>A (p.Gly308Arg)
c.813G>A
c.1072G>A (p.Gly358Arg)
n.574G>A
n.688G>A
c.880G>A (p.Gly294Arg)
c.697G>A (p.Gly233Arg)
 gnomAD v4 COSMIC COSMIC
1g.77933342G>CCA340876723NEXNc.1114G>C (p.Gly372Arg)
c.922G>C (p.Gly308Arg)
c.813G>C
c.1072G>C (p.Gly358Arg)
n.574G>C
n.688G>C
c.880G>C (p.Gly294Arg)
c.697G>C (p.Gly233Arg)
 gnomAD v4
1g.77933342G>TCA340876721NEXNc.1114G>T (p.Gly372Ter)
c.922G>T (p.Gly308Ter)
c.813G>T
c.1072G>T (p.Gly358Ter)
n.574G>T
n.688G>T
c.880G>T (p.Gly294Ter)
c.697G>T (p.Gly233Ter)
1g.77933343G>ACA340876724NEXNc.1115G>A (p.Gly372Glu)
c.923G>A (p.Gly308Glu)
c.814G>A
c.1073G>A (p.Gly358Glu)
n.575G>A
n.689G>A
c.881G>A (p.Gly294Glu)
c.698G>A (p.Gly233Glu)
1g.77933343G>CCA340876725NEXNc.1115G>C (p.Gly372Ala)
c.923G>C (p.Gly308Ala)
c.814G>C
c.1073G>C (p.Gly358Ala)
n.575G>C
n.689G>C
c.881G>C (p.Gly294Ala)
c.698G>C (p.Gly233Ala)
1g.77933343G>TCA340876726NEXNc.1115G>T (p.Gly372Val)
c.923G>T (p.Gly308Val)
c.814G>T
c.1073G>T (p.Gly358Val)
n.575G>T
n.689G>T
c.881G>T (p.Gly294Val)
c.698G>T (p.Gly233Val)
 gnomAD v4
1g.77933344A=CA1177626713NEXNc.1116A= (p.Gly372=)
c.924A= (p.Gly308=)
c.815A=
c.1074A= (p.Gly358=)
n.576A=
n.690A=
c.882A= (p.Gly294=)
c.699A= (p.Gly233=)
1g.77933344A>CCA418572064NEXNc.1116A>C (p.Gly372=)
c.924A>C (p.Gly308=)
c.815A>C
c.1074A>C (p.Gly358=)
n.576A>C
n.690A>C
c.882A>C (p.Gly294=)
c.699A>C (p.Gly233=)
1g.77933344A>GCA418572065NEXNc.1116A>G (p.Gly372=)
c.924A>G (p.Gly308=)
c.815A>G
c.1074A>G (p.Gly358=)
n.576A>G
n.690A>G
c.882A>G (p.Gly294=)
c.699A>G (p.Gly233=)
 dbSNP gnomAD v4
1g.77933344A>TCA418572066NEXNc.1116A>T (p.Gly372=)
c.924A>T (p.Gly308=)
c.815A>T
c.1074A>T (p.Gly358=)
n.576A>T
n.690A>T
c.882A>T (p.Gly294=)
c.699A>T (p.Gly233=)
1g.77933345A=CA1177626716NEXNc.1117A= (p.Lys373=)
c.925A= (p.Lys309=)
c.816A=
c.1075A= (p.Lys359=)
n.577A=
n.691A=
c.883A= (p.Lys295=)
c.700A= (p.Lys234=)
1g.77933345A>CCA918807NEXNc.1117A>C (p.Lys373Gln)
c.925A>C (p.Lys309Gln)
c.816A>C
c.1075A>C (p.Lys359Gln)
n.577A>C
n.691A>C
c.883A>C (p.Lys295Gln)
c.700A>C (p.Lys234Gln)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.77933345A>GCA340876727NEXNc.1117A>G (p.Lys373Glu)
c.925A>G (p.Lys309Glu)
c.816A>G
c.1075A>G (p.Lys359Glu)
n.577A>G
n.691A>G
c.883A>G (p.Lys295Glu)
c.700A>G (p.Lys234Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.77933345A>TCA340876728NEXNc.1117A>T (p.Lys373Ter)
c.925A>T (p.Lys309Ter)
c.816A>T
c.1075A>T (p.Lys359Ter)
n.577A>T
n.691A>T
c.883A>T (p.Lys295Ter)
c.700A>T (p.Lys234Ter)
1g.77933346A>CCA340876729NEXNc.1118A>C (p.Lys373Thr)
c.926A>C (p.Lys309Thr)
c.817A>C
c.1076A>C (p.Lys359Thr)
n.578A>C
n.692A>C
c.884A>C (p.Lys295Thr)
c.701A>C (p.Lys234Thr)
1g.77933346A>GCA340876730NEXNc.1118A>G (p.Lys373Arg)
c.926A>G (p.Lys309Arg)
c.817A>G
c.1076A>G (p.Lys359Arg)
n.578A>G
n.692A>G
c.884A>G (p.Lys295Arg)
c.701A>G (p.Lys234Arg)
1g.77933346A>TCA340876731NEXNc.1118A>T (p.Lys373Ile)
c.926A>T (p.Lys309Ile)
c.817A>T
c.1076A>T (p.Lys359Ile)
n.578A>T
n.692A>T
c.884A>T (p.Lys295Ile)
c.701A>T (p.Lys234Ile)
1g.77933347A>CCA340876732NEXNc.1119A>C (p.Lys373Asn)
c.927A>C (p.Lys309Asn)
c.818A>C
c.1077A>C (p.Lys359Asn)
n.579A>C
n.693A>C
c.885A>C (p.Lys295Asn)
c.702A>C (p.Lys234Asn)
1g.77933347A>GCA418572067NEXNc.1119A>G (p.Lys373=)
c.927A>G (p.Lys309=)
c.818A>G
c.1077A>G (p.Lys359=)
n.579A>G
n.693A>G
c.885A>G (p.Lys295=)
c.702A>G (p.Lys234=)
1g.77933347A>TCA340876733NEXNc.1119A>T (p.Lys373Asn)
c.927A>T (p.Lys309Asn)
c.818A>T
c.1077A>T (p.Lys359Asn)
n.579A>T
n.693A>T
c.885A>T (p.Lys295Asn)
c.702A>T (p.Lys234Asn)
1g.77933348C>ACA340876734NEXNc.1120C>A (p.Leu374Met)
c.928C>A (p.Leu310Met)
c.819C>A
c.1078C>A (p.Leu360Met)
n.580C>A
n.694C>A
c.886C>A (p.Leu296Met)
c.703C>A (p.Leu235Met)
1g.77933348C>GCA340876735NEXNc.1120C>G (p.Leu374Val)
c.928C>G (p.Leu310Val)
c.819C>G
c.1078C>G (p.Leu360Val)
n.580C>G
n.694C>G
c.886C>G (p.Leu296Val)
c.703C>G (p.Leu235Val)
1g.77933348C>TCA418572068NEXNc.1120C>T (p.Leu374=)
c.928C>T (p.Leu310=)
c.819C>T
c.1078C>T (p.Leu360=)
n.580C>T
n.694C>T
c.886C>T (p.Leu296=)
c.703C>T (p.Leu235=)
1g.77933349T>ACA340876736NEXNc.1121T>A (p.Leu374Gln)
c.929T>A (p.Leu310Gln)
c.820T>A
c.1079T>A (p.Leu360Gln)
n.581T>A
n.695T>A
c.887T>A (p.Leu296Gln)
c.704T>A (p.Leu235Gln)
1g.77933349T>CCA340876738NEXNc.1121T>C (p.Leu374Pro)
c.929T>C (p.Leu310Pro)
c.820T>C
c.1079T>C (p.Leu360Pro)
n.581T>C
n.695T>C
c.887T>C (p.Leu296Pro)
c.704T>C (p.Leu235Pro)
1g.77933349T>GCA340876737NEXNc.1121T>G (p.Leu374Arg)
c.929T>G (p.Leu310Arg)
c.820T>G
c.1079T>G (p.Leu360Arg)
n.581T>G
n.695T>G
c.887T>G (p.Leu296Arg)
c.704T>G (p.Leu235Arg)
 ClinVar gnomAD v4
1g.77933350G>ACA418572069NEXNc.1122G>A (p.Leu374=)
c.930G>A (p.Leu310=)
c.821G>A
c.1080G>A (p.Leu360=)
n.582G>A
n.696G>A
c.888G>A (p.Leu296=)
c.705G>A (p.Leu235=)
1g.77933350G>CCA418572070NEXNc.1122G>C (p.Leu374=)
c.930G>C (p.Leu310=)
c.821G>C
c.1080G>C (p.Leu360=)
n.582G>C
n.696G>C
c.888G>C (p.Leu296=)
c.705G>C (p.Leu235=)
1g.77933350G>TCA418572071NEXNc.1122G>T (p.Leu374=)
c.930G>T (p.Leu310=)
c.821G>T
c.1080G>T (p.Leu360=)
n.582G>T
n.696G>T
c.888G>T (p.Leu296=)
c.705G>T (p.Leu235=)
1g.77933351G>ACA340876739NEXNc.1123G>A (p.Glu375Lys)
c.931G>A (p.Glu311Lys)
c.822G>A
c.1081G>A (p.Glu361Lys)
n.583G>A
n.697G>A
c.889G>A (p.Glu297Lys)
c.706G>A (p.Glu236Lys)
1g.77933351G>CCA340876740NEXNc.1123G>C (p.Glu375Gln)
c.931G>C (p.Glu311Gln)
c.822G>C
c.1081G>C (p.Glu361Gln)
n.583G>C
n.697G>C
c.889G>C (p.Glu297Gln)
c.706G>C (p.Glu236Gln)
1g.77933351G=CA1177626720NEXNc.1123G= (p.Glu375=)
c.931G= (p.Glu311=)
c.822G=
c.1081G= (p.Glu361=)
n.583G=
n.697G=
c.889G= (p.Glu297=)
c.706G= (p.Glu236=)
1g.77933351G>TCA340876741NEXNc.1123G>T (p.Glu375Ter)
c.931G>T (p.Glu311Ter)
c.822G>T
c.1081G>T (p.Glu361Ter)
n.583G>T
n.697G>T
c.889G>T (p.Glu297Ter)
c.706G>T (p.Glu236Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77933352A>CCA340876742NEXNc.1124A>C (p.Glu375Ala)
c.932A>C (p.Glu311Ala)
c.823A>C
c.1082A>C (p.Glu361Ala)
n.584A>C
n.698A>C
c.890A>C (p.Glu297Ala)
c.707A>C (p.Glu236Ala)
 gnomAD v4
1g.77933352A>GCA340876743NEXNc.1124A>G (p.Glu375Gly)
c.932A>G (p.Glu311Gly)
c.823A>G
c.1082A>G (p.Glu361Gly)
n.584A>G
n.698A>G
c.890A>G (p.Glu297Gly)
c.707A>G (p.Glu236Gly)
1g.77933352A>TCA340876744NEXNc.1124A>T (p.Glu375Val)
c.932A>T (p.Glu311Val)
c.823A>T
c.1082A>T (p.Glu361Val)
n.584A>T
n.698A>T
c.890A>T (p.Glu297Val)
c.707A>T (p.Glu236Val)
1g.77933353A>CCA340876746NEXNc.1125A>C (p.Glu375Asp)
c.933A>C (p.Glu311Asp)
c.824A>C
c.1083A>C (p.Glu361Asp)
n.585A>C
n.699A>C
c.891A>C (p.Glu297Asp)
c.708A>C (p.Glu236Asp)
1g.77933353A>GCA418572072NEXNc.1125A>G (p.Glu375=)
c.933A>G (p.Glu311=)
c.824A>G
c.1083A>G (p.Glu361=)
n.585A>G
n.699A>G
c.891A>G (p.Glu297=)
c.708A>G (p.Glu236=)
1g.77933353A>TCA340876747NEXNc.1125A>T (p.Glu375Asp)
c.933A>T (p.Glu311Asp)
c.824A>T
c.1083A>T (p.Glu361Asp)
n.585A>T
n.699A>T
c.891A>T (p.Glu297Asp)
c.708A>T (p.Glu236Asp)
1g.77933354A>CCA340876748NEXNc.1126A>C (p.Ile376Leu)
c.934A>C (p.Ile312Leu)
c.825A>C
c.1084A>C (p.Ile362Leu)
n.586A>C
n.700A>C
c.892A>C (p.Ile298Leu)
c.709A>C (p.Ile237Leu)
1g.77933354A>GCA340876750NEXNc.1126A>G (p.Ile376Val)
c.934A>G (p.Ile312Val)
c.825A>G
c.1084A>G (p.Ile362Val)
n.586A>G
n.700A>G
c.892A>G (p.Ile298Val)
c.709A>G (p.Ile237Val)
 gnomAD v4
1g.77933354A>TCA340876752NEXNc.1126A>T (p.Ile376Phe)
c.934A>T (p.Ile312Phe)
c.825A>T
c.1084A>T (p.Ile362Phe)
n.586A>T
n.700A>T
c.892A>T (p.Ile298Phe)
c.709A>T (p.Ile237Phe)
1g.77933355T>ACA340876763NEXNc.1127T>A (p.Ile376Asn)
c.935T>A (p.Ile312Asn)
c.826T>A
c.1085T>A (p.Ile362Asn)
n.587T>A
n.701T>A
c.893T>A (p.Ile298Asn)
c.710T>A (p.Ile237Asn)
1g.77933355T>CCA340876765NEXNc.1127T>C (p.Ile376Thr)
c.935T>C (p.Ile312Thr)
c.826T>C
c.1085T>C (p.Ile362Thr)
n.587T>C
n.701T>C
c.893T>C (p.Ile298Thr)
c.710T>C (p.Ile237Thr)
1g.77933355T>GCA340876758NEXNc.1127T>G (p.Ile376Ser)
c.935T>G (p.Ile312Ser)
c.826T>G
c.1085T>G (p.Ile362Ser)
n.587T>G
n.701T>G
c.893T>G (p.Ile298Ser)
c.710T>G (p.Ile237Ser)
1g.77933356T>ACA418572073NEXNc.1128T>A (p.Ile376=)
c.936T>A (p.Ile312=)
c.827T>A
c.1086T>A (p.Ile362=)
n.588T>A
n.702T>A
c.894T>A (p.Ile298=)
c.711T>A (p.Ile237=)
1g.77933356T>CCA418572074NEXNc.1128T>C (p.Ile376=)
c.936T>C (p.Ile312=)
c.827T>C
c.1086T>C (p.Ile362=)
n.588T>C
n.702T>C
c.894T>C (p.Ile298=)
c.711T>C (p.Ile237=)
1g.77933356T>GCA340876766NEXNc.1128T>G (p.Ile376Met)
c.936T>G (p.Ile312Met)
c.827T>G
c.1086T>G (p.Ile362Met)
n.588T>G
n.702T>G
c.894T>G (p.Ile298Met)
c.711T>G (p.Ile237Met)
1g.77933357A>CCA340876768NEXNc.1129A>C (p.Asn377His)
c.937A>C (p.Asn313His)
c.828A>C
c.1087A>C (p.Asn363His)
n.589A>C
n.703A>C
c.895A>C (p.Asn299His)
c.712A>C (p.Asn238His)
1g.77933357A>GCA340876773NEXNc.1129A>G (p.Asn377Asp)
c.937A>G (p.Asn313Asp)
c.828A>G
c.1087A>G (p.Asn363Asp)
n.589A>G
n.703A>G
c.895A>G (p.Asn299Asp)
c.712A>G (p.Asn238Asp)
1g.77933357A>TCA340876770NEXNc.1129A>T (p.Asn377Tyr)
c.937A>T (p.Asn313Tyr)
c.828A>T
c.1087A>T (p.Asn363Tyr)
n.589A>T
n.703A>T
c.895A>T (p.Asn299Tyr)
c.712A>T (p.Asn238Tyr)
1g.77933358dupCA2646274519NEXNc.1130dup (p.Asn377LysfsTer3)
c.938dup (p.Asn313LysfsTer3)
c.829dup
c.1088dup (p.Asn363LysfsTer3)
n.590dup
n.704dup
c.896dup (p.Asn299LysfsTer3)
c.713dup (p.Asn238LysfsTer3)
 gnomAD v4
1g.77933358A>CCA340876775NEXNc.1130A>C (p.Asn377Thr)
c.938A>C (p.Asn313Thr)
c.829A>C
c.1088A>C (p.Asn363Thr)
n.590A>C
n.704A>C
c.896A>C (p.Asn299Thr)
c.713A>C (p.Asn238Thr)
1g.77933358A>GCA340876777NEXNc.1130A>G (p.Asn377Ser)
c.938A>G (p.Asn313Ser)
c.829A>G
c.1088A>G (p.Asn363Ser)
n.590A>G
n.704A>G
c.896A>G (p.Asn299Ser)
c.713A>G (p.Asn238Ser)
 dbSNP gnomAD v4
1g.77933358A>TCA340876779NEXNc.1130A>T (p.Asn377Ile)
c.938A>T (p.Asn313Ile)
c.829A>T
c.1088A>T (p.Asn363Ile)
n.590A>T
n.704A>T
c.896A>T (p.Asn299Ile)
c.713A>T (p.Asn238Ile)
1g.77933359T>ACA340876789NEXNc.1131T>A (p.Asn377Lys)
c.939T>A (p.Asn313Lys)
c.830T>A
c.1089T>A (p.Asn363Lys)
n.591T>A
n.705T>A
c.897T>A (p.Asn299Lys)
c.714T>A (p.Asn238Lys)
 COSMIC
1g.77933359T>CCA418572075NEXNc.1131T>C (p.Asn377=)
c.939T>C (p.Asn313=)
c.830T>C
c.1089T>C (p.Asn363=)
n.591T>C
n.705T>C
c.897T>C (p.Asn299=)
c.714T>C (p.Asn238=)
1g.77933359T>GCA340876791NEXNc.1131T>G (p.Asn377Lys)
c.939T>G (p.Asn313Lys)
c.830T>G
c.1089T>G (p.Asn363Lys)
n.591T>G
n.705T>G
c.897T>G (p.Asn299Lys)
c.714T>G (p.Asn238Lys)
1g.77933360T>ACA340876794NEXNc.1132T>A (p.Phe378Ile)
c.940T>A (p.Phe314Ile)
c.831T>A
c.1090T>A (p.Phe364Ile)
n.592T>A
n.706T>A
c.898T>A (p.Phe300Ile)
c.715T>A (p.Phe239Ile)
1g.77933360T>CCA340876798NEXNc.1132T>C (p.Phe378Leu)
c.940T>C (p.Phe314Leu)
c.831T>C
c.1090T>C (p.Phe364Leu)
n.592T>C
n.706T>C
c.898T>C (p.Phe300Leu)
c.715T>C (p.Phe239Leu)
1g.77933360T>GCA340876800NEXNc.1132T>G (p.Phe378Val)
c.940T>G (p.Phe314Val)
c.831T>G
c.1090T>G (p.Phe364Val)
n.592T>G
n.706T>G
c.898T>G (p.Phe300Val)
c.715T>G (p.Phe239Val)
1g.77933361T>ACA340876803NEXNc.1133T>A (p.Phe378Tyr)
c.941T>A (p.Phe314Tyr)
c.832T>A
c.1091T>A (p.Phe364Tyr)
n.593T>A
n.707T>A
c.899T>A (p.Phe300Tyr)
c.716T>A (p.Phe239Tyr)
1g.77933361T>CCA340876805NEXNc.1133T>C (p.Phe378Ser)
c.941T>C (p.Phe314Ser)
c.832T>C
c.1091T>C (p.Phe364Ser)
n.593T>C
n.707T>C
c.899T>C (p.Phe300Ser)
c.716T>C (p.Phe239Ser)
1g.77933361T>GCA340876806NEXNc.1133T>G (p.Phe378Cys)
c.941T>G (p.Phe314Cys)
c.832T>G
c.1091T>G (p.Phe364Cys)
n.593T>G
n.707T>G
c.899T>G (p.Phe300Cys)
c.716T>G (p.Phe239Cys)
1g.77933362T>ACA340876807NEXNc.1134T>A (p.Phe378Leu)
c.942T>A (p.Phe314Leu)
c.833T>A
c.1092T>A (p.Phe364Leu)
n.594T>A
n.708T>A
c.900T>A (p.Phe300Leu)
c.717T>A (p.Phe239Leu)
1g.77933362T>CCA418572076NEXNc.1134T>C (p.Phe378=)
c.942T>C (p.Phe314=)
c.833T>C
c.1092T>C (p.Phe364=)
n.594T>C
n.708T>C
c.900T>C (p.Phe300=)
c.717T>C (p.Phe239=)
1g.77933362T>GCA340876808NEXNc.1134T>G (p.Phe378Leu)
c.942T>G (p.Phe314Leu)
c.833T>G
c.1092T>G (p.Phe364Leu)
n.594T>G
n.708T>G
c.900T>G (p.Phe300Leu)
c.717T>G (p.Phe239Leu)
1g.77933363G>ACA340876810NEXNc.1135G>A (p.Glu379Lys)
c.943G>A (p.Glu315Lys)
c.834G>A
c.1093G>A (p.Glu365Lys)
n.595G>A
n.709G>A
c.901G>A (p.Glu301Lys)
c.718G>A (p.Glu240Lys)
1g.77933363G>CCA340876817NEXNc.1135G>C (p.Glu379Gln)
c.943G>C (p.Glu315Gln)
c.834G>C
c.1093G>C (p.Glu365Gln)
n.595G>C
n.709G>C
c.901G>C (p.Glu301Gln)
c.718G>C (p.Glu240Gln)
 dbSNP
1g.77933363G>TCA340876815NEXNc.1135G>T (p.Glu379Ter)
c.943G>T (p.Glu315Ter)
c.834G>T
c.1093G>T (p.Glu365Ter)
n.595G>T
n.709G>T
c.901G>T (p.Glu301Ter)
c.718G>T (p.Glu240Ter)
1g.77933364A>CCA340876829NEXNc.1136A>C (p.Glu379Ala)
c.944A>C (p.Glu315Ala)
c.835A>C
c.1094A>C (p.Glu365Ala)
n.596A>C
n.710A>C
c.902A>C (p.Glu301Ala)
c.719A>C (p.Glu240Ala)
1g.77933364A>GCA340876830NEXNc.1136A>G (p.Glu379Gly)
c.944A>G (p.Glu315Gly)
c.835A>G
c.1094A>G (p.Glu365Gly)
n.596A>G
n.710A>G
c.902A>G (p.Glu301Gly)
c.719A>G (p.Glu240Gly)
1g.77933364A>TCA340876832NEXNc.1136A>T (p.Glu379Val)
c.944A>T (p.Glu315Val)
c.835A>T
c.1094A>T (p.Glu365Val)
n.596A>T
n.710A>T
c.902A>T (p.Glu301Val)
c.719A>T (p.Glu240Val)
1g.77933365A=CA1177626724NEXNc.1137A= (p.Glu379=)
c.945A= (p.Glu315=)
c.836A=
c.1095A= (p.Glu365=)
n.597A=
n.711A=
c.903A= (p.Glu301=)
c.720A= (p.Glu240=)
1g.77933365A>CCA340876834NEXNc.1137A>C (p.Glu379Asp)
c.945A>C (p.Glu315Asp)
c.836A>C
c.1095A>C (p.Glu365Asp)
n.597A>C
n.711A>C
c.903A>C (p.Glu301Asp)
c.720A>C (p.Glu240Asp)
1g.77933365A>GCA418572078NEXNc.1137A>G (p.Glu379=)
c.945A>G (p.Glu315=)
c.836A>G
c.1095A>G (p.Glu365=)
n.597A>G
n.711A>G
c.903A>G (p.Glu301=)
c.720A>G (p.Glu240=)
 ClinVar dbSNP
1g.77933365A>TCA340876836NEXNc.1137A>T (p.Glu379Asp)
c.945A>T (p.Glu315Asp)
c.836A>T
c.1095A>T (p.Glu365Asp)
n.597A>T
n.711A>T
c.903A>T (p.Glu301Asp)
c.720A>T (p.Glu240Asp)
1g.77933366G>ACA340876838NEXNc.1138G>A (p.Glu380Lys)
c.946G>A (p.Glu316Lys)
c.837G>A
c.1096G>A (p.Glu366Lys)
n.598G>A
n.712G>A
c.904G>A (p.Glu302Lys)
c.721G>A (p.Glu241Lys)
1g.77933366G>CCA340876840NEXNc.1138G>C (p.Glu380Gln)
c.946G>C (p.Glu316Gln)
c.837G>C
c.1096G>C (p.Glu366Gln)
n.598G>C
n.712G>C
c.904G>C (p.Glu302Gln)
c.721G>C (p.Glu241Gln)
1g.77933366G>TCA340876842NEXNc.1138G>T (p.Glu380Ter)
c.946G>T (p.Glu316Ter)
c.837G>T
c.1096G>T (p.Glu366Ter)
n.598G>T
n.712G>T
c.904G>T (p.Glu302Ter)
c.721G>T (p.Glu241Ter)
1g.77933366_77933369delinsGAATCA1177626725NEXNc.1138_1141delinsGAAT (p.Glu380=)
c.946_949delinsGAAT (p.Glu316=)
c.837_840delinsGAAT
c.1096_1099delinsGAAT (p.Glu366=)
n.598_601delinsGAAT
n.712_715delinsGAAT
c.904_907delinsGAAT (p.Glu302=)
c.721_724delinsGAAT (p.Glu241=)
1g.77933367A=CA1177626728NEXNc.1139A= (p.Glu380=)
c.947A= (p.Glu316=)
c.838A=
c.1097A= (p.Glu366=)
n.599A=
n.713A=
c.905A= (p.Glu302=)
c.722A= (p.Glu241=)
1g.77933367A>CCA340876843NEXNc.1139A>C (p.Glu380Ala)
c.947A>C (p.Glu316Ala)
c.838A>C
c.1097A>C (p.Glu366Ala)
n.599A>C
n.713A>C
c.905A>C (p.Glu302Ala)
c.722A>C (p.Glu241Ala)
1g.77933367A>GCA340876846NEXNc.1139A>G (p.Glu380Gly)
c.947A>G (p.Glu316Gly)
c.838A>G
c.1097A>G (p.Glu366Gly)
n.599A>G
n.713A>G
c.905A>G (p.Glu302Gly)
c.722A>G (p.Glu241Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933367A>TCA340876852NEXNc.1139A>T (p.Glu380Val)
c.947A>T (p.Glu316Val)
c.838A>T
c.1097A>T (p.Glu366Val)
n.599A>T
n.713A>T
c.905A>T (p.Glu302Val)
c.722A>T (p.Glu241Val)
 dbSNP gnomAD v4
1g.77933367_77933369delCA1177626730NEXNc.1139_1141del (p.Glu380_Leu381delinsVal)
c.947_949del (p.Glu316_Leu317delinsVal)
c.838_840del
c.1097_1099del (p.Glu366_Leu367delinsVal)
n.599_601del
n.713_715del
c.905_907del (p.Glu302_Leu303delinsVal)
c.722_724del (p.Glu241_Leu242delinsVal)
 dbSNP gnomAD v4
1g.77933368_77933371delCA2574414089NEXNc.1140_1143del (p.Glu380AspfsTer2)
c.948_951del (p.Glu316AspfsTer2)
c.839_842del
c.1098_1101del (p.Glu366AspfsTer2)
n.600_603del
n.714_717del
c.906_909del (p.Glu302AspfsTer2)
c.723_726del (p.Glu241AspfsTer2)
 gnomAD v4
1g.77933368A>CCA340876853NEXNc.1140A>C (p.Glu380Asp)
c.948A>C (p.Glu316Asp)
c.839A>C
c.1098A>C (p.Glu366Asp)
n.600A>C
n.714A>C
c.906A>C (p.Glu302Asp)
c.723A>C (p.Glu241Asp)
1g.77933368A>GCA418572079NEXNc.1140A>G (p.Glu380=)
c.948A>G (p.Glu316=)
c.839A>G
c.1098A>G (p.Glu366=)
n.600A>G
n.714A>G
c.906A>G (p.Glu302=)
c.723A>G (p.Glu241=)
 ClinVar
1g.77933368A>TCA340876854NEXNc.1140A>T (p.Glu380Asp)
c.948A>T (p.Glu316Asp)
c.839A>T
c.1098A>T (p.Glu366Asp)
n.600A>T
n.714A>T
c.906A>T (p.Glu302Asp)
c.723A>T (p.Glu241Asp)
1g.77933372_77933374delCA2646274520NEXNc.1144_1146del (p.Leu382del)
c.952_954del (p.Leu318del)
c.843_845del
c.1102_1104del (p.Leu368del)
n.604_606del
n.718_720del
c.910_912del (p.Leu304del)
c.727_729del (p.Leu243del)
 gnomAD v4
1g.77933369T>ACA340876855NEXNc.1141T>A (p.Leu381Ile)
c.949T>A (p.Leu317Ile)
c.840T>A
c.1099T>A (p.Leu367Ile)
n.601T>A
n.715T>A
c.907T>A (p.Leu303Ile)
c.724T>A (p.Leu242Ile)
1g.77933369T>CCA418572080NEXNc.1141T>C (p.Leu381=)
c.949T>C (p.Leu317=)
c.840T>C
c.1099T>C (p.Leu367=)
n.601T>C
n.715T>C
c.907T>C (p.Leu303=)
c.724T>C (p.Leu242=)
1g.77933369T>GCA340876856NEXNc.1141T>G (p.Leu381Val)
c.949T>G (p.Leu317Val)
c.840T>G
c.1099T>G (p.Leu367Val)
n.601T>G
n.715T>G
c.907T>G (p.Leu303Val)
c.724T>G (p.Leu242Val)
 dbSNP gnomAD v4
1g.77933369T=CA1177626731NEXNc.1141T= (p.Leu381=)
c.949T= (p.Leu317=)
c.840T=
c.1099T= (p.Leu367=)
n.601T=
n.715T=
c.907T= (p.Leu303=)
c.724T= (p.Leu242=)
1g.77933370T>ACA340876857NEXNc.1142T>A (p.Leu381Ter)
c.950T>A (p.Leu317Ter)
c.841T>A
c.1100T>A (p.Leu367Ter)
n.602T>A
n.716T>A
c.908T>A (p.Leu303Ter)
c.725T>A (p.Leu242Ter)
1g.77933370T>CCA340876858NEXNc.1142T>C (p.Leu381Ser)
c.950T>C (p.Leu317Ser)
c.841T>C
c.1100T>C (p.Leu367Ser)
n.602T>C
n.716T>C
c.908T>C (p.Leu303Ser)
c.725T>C (p.Leu242Ser)
1g.77933370T>GCA340876860NEXNc.1142T>G (p.Leu381Ter)
c.950T>G (p.Leu317Ter)
c.841T>G
c.1100T>G (p.Leu367Ter)
n.602T>G
n.716T>G
c.908T>G (p.Leu303Ter)
c.725T>G (p.Leu242Ter)
1g.77933371A>CCA340876864NEXNc.1143A>C (p.Leu381Phe)
c.951A>C (p.Leu317Phe)
c.842A>C
c.1101A>C (p.Leu367Phe)
n.603A>C
n.717A>C
c.909A>C (p.Leu303Phe)
c.726A>C (p.Leu242Phe)
1g.77933371A>GCA418572081NEXNc.1143A>G (p.Leu381=)
c.951A>G (p.Leu317=)
c.842A>G
c.1101A>G (p.Leu367=)
n.603A>G
n.717A>G
c.909A>G (p.Leu303=)
c.726A>G (p.Leu242=)
 gnomAD v4
1g.77933371A>TCA340876867NEXNc.1143A>T (p.Leu381Phe)
c.951A>T (p.Leu317Phe)
c.842A>T
c.1101A>T (p.Leu367Phe)
n.603A>T
n.717A>T
c.909A>T (p.Leu303Phe)
c.726A>T (p.Leu242Phe)
 ClinVar dbSNP
1g.77933372T>ACA340876870NEXNc.1144T>A (p.Leu382Ile)
c.952T>A (p.Leu318Ile)
c.843T>A
c.1102T>A (p.Leu368Ile)
n.604T>A
n.718T>A
c.910T>A (p.Leu304Ile)
c.727T>A (p.Leu243Ile)
1g.77933372T>CCA418572082NEXNc.1144T>C (p.Leu382=)
c.952T>C (p.Leu318=)
c.843T>C
c.1102T>C (p.Leu368=)
n.604T>C
n.718T>C
c.910T>C (p.Leu304=)
c.727T>C (p.Leu243=)
 ClinVar gnomAD v4
1g.77933372T>GCA340876874NEXNc.1144T>G (p.Leu382Val)
c.952T>G (p.Leu318Val)
c.843T>G
c.1102T>G (p.Leu368Val)
n.604T>G
n.718T>G
c.910T>G (p.Leu304Val)
c.727T>G (p.Leu243Val)
1g.77933373T>ACA340876876NEXNc.1145T>A (p.Leu382Ter)
c.953T>A (p.Leu318Ter)
c.844T>A
c.1103T>A (p.Leu368Ter)
n.605T>A
n.719T>A
c.911T>A (p.Leu304Ter)
c.728T>A (p.Leu243Ter)
1g.77933373T>CCA340876878NEXNc.1145T>C (p.Leu382Ser)
c.953T>C (p.Leu318Ser)
c.844T>C
c.1103T>C (p.Leu368Ser)
n.605T>C
n.719T>C
c.911T>C (p.Leu304Ser)
c.728T>C (p.Leu243Ser)
1g.77933373T>GCA340876879NEXNc.1145T>G (p.Leu382Ter)
c.953T>G (p.Leu318Ter)
c.844T>G
c.1103T>G (p.Leu368Ter)
n.605T>G
n.719T>G
c.911T>G (p.Leu304Ter)
c.728T>G (p.Leu243Ter)
1g.77933374A>CCA340876881NEXNc.1146A>C (p.Leu382Phe)
c.954A>C (p.Leu318Phe)
c.845A>C
c.1104A>C (p.Leu368Phe)
n.606A>C
n.720A>C
c.912A>C (p.Leu304Phe)
c.729A>C (p.Leu243Phe)
1g.77933374A>GCA418572083NEXNc.1146A>G (p.Leu382=)
c.954A>G (p.Leu318=)
c.845A>G
c.1104A>G (p.Leu368=)
n.606A>G
n.720A>G
c.912A>G (p.Leu304=)
c.729A>G (p.Leu243=)
1g.77933374A>TCA340876882NEXNc.1146A>T (p.Leu382Phe)
c.954A>T (p.Leu318Phe)
c.845A>T
c.1104A>T (p.Leu368Phe)
n.606A>T
n.720A>T
c.912A>T (p.Leu304Phe)
c.729A>T (p.Leu243Phe)
1g.77933377delCA2574414090NEXNc.1149del (p.Lys383AsnfsTer19)
c.957del (p.Lys319AsnfsTer19)
c.848del
c.957del (p.Lys319AsnfsTer?)
c.1107del (p.Lys369AsnfsTer19)
n.609del
n.723del
c.915del (p.Lys305AsnfsTer19)
c.732del (p.Lys244AsnfsTer19)
1g.77933378_77933382delCA2646274521NEXNc.1150_1154del (p.Gln384AsnfsTer15)
c.958_962del (p.Gln320AsnfsTer15)
c.849_853del
c.958_962del (p.Gln320=)
c.1108_1112del (p.Gln370AsnfsTer15)
n.610_614del
n.724_728del
c.916_920del (p.Gln306AsnfsTer15)
c.733_737del (p.Gln245AsnfsTer15)
 gnomAD v4
1g.77933375A>CCA340876884NEXNc.1147A>C (p.Lys383Gln)
c.955A>C (p.Lys319Gln)
c.846A>C
c.1105A>C (p.Lys369Gln)
n.607A>C
n.721A>C
c.913A>C (p.Lys305Gln)
c.730A>C (p.Lys244Gln)
1g.77933375A>GCA340876887NEXNc.1147A>G (p.Lys383Glu)
c.955A>G (p.Lys319Glu)
c.846A>G
c.1105A>G (p.Lys369Glu)
n.607A>G
n.721A>G
c.913A>G (p.Lys305Glu)
c.730A>G (p.Lys244Glu)
1g.77933375A>TCA340876885NEXNc.1147A>T (p.Lys383Ter)
c.955A>T (p.Lys319Ter)
c.846A>T
c.1105A>T (p.Lys369Ter)
n.607A>T
n.721A>T
c.913A>T (p.Lys305Ter)
c.730A>T (p.Lys244Ter)
1g.77933376A>CCA340876888NEXNc.1148A>C (p.Lys383Thr)
c.956A>C (p.Lys319Thr)
c.847A>C
c.1106A>C (p.Lys369Thr)
n.608A>C
n.722A>C
c.914A>C (p.Lys305Thr)
c.731A>C (p.Lys244Thr)
1g.77933376A>GCA340876891NEXNc.1148A>G (p.Lys383Arg)
c.956A>G (p.Lys319Arg)
c.847A>G
c.1106A>G (p.Lys369Arg)
n.608A>G
n.722A>G
c.914A>G (p.Lys305Arg)
c.731A>G (p.Lys244Arg)
1g.77933376A>TCA340876893NEXNc.1148A>T (p.Lys383Ile)
c.956A>T (p.Lys319Ile)
c.847A>T
c.1106A>T (p.Lys369Ile)
n.608A>T
n.722A>T
c.914A>T (p.Lys305Ile)
c.731A>T (p.Lys244Ile)
 gnomAD v4
1g.77933377A=CA1144428595NEXNc.1149A= (p.Lys383=)
c.957A= (p.Lys319=)
c.848A=
c.1107A= (p.Lys369=)
n.609A=
n.723A=
c.915A= (p.Lys305=)
c.732A= (p.Lys244=)
1g.77933377A>CCA340876894NEXNc.1149A>C (p.Lys383Asn)
c.957A>C (p.Lys319Asn)
c.848A>C
c.1107A>C (p.Lys369Asn)
n.609A>C
n.723A>C
c.915A>C (p.Lys305Asn)
c.732A>C (p.Lys244Asn)
1g.77933377A>GCA24684218NEXNc.1149A>G (p.Lys383=)
c.957A>G (p.Lys319=)
c.848A>G
c.1107A>G (p.Lys369=)
n.609A>G
n.723A>G
c.915A>G (p.Lys305=)
c.732A>G (p.Lys244=)
 dbSNP gnomAD v3 gnomAD v4
1g.77933377A>TCA340876897NEXNc.1149A>T (p.Lys383Asn)
c.957A>T (p.Lys319Asn)
c.848A>T
c.1107A>T (p.Lys369Asn)
n.609A>T
n.723A>T
c.915A>T (p.Lys305Asn)
c.732A>T (p.Lys244Asn)
1g.77933378C>ACA340876899NEXNc.1150C>A (p.Gln384Lys)
c.958C>A (p.Gln320Lys)
c.849C>A
c.1108C>A (p.Gln370Lys)
n.610C>A
n.724C>A
c.916C>A (p.Gln306Lys)
c.733C>A (p.Gln245Lys)
 gnomAD v3 gnomAD v4
1g.77933378C=CA1177626734NEXNc.1150C= (p.Gln384=)
c.958C= (p.Gln320=)
c.849C=
c.1108C= (p.Gln370=)
n.610C=
n.724C=
c.916C= (p.Gln306=)
c.733C= (p.Gln245=)
1g.77933378C>GCA340876901NEXNc.1150C>G (p.Gln384Glu)
c.958C>G (p.Gln320Glu)
c.849C>G
c.1108C>G (p.Gln370Glu)
n.610C>G
n.724C>G
c.916C>G (p.Gln306Glu)
c.733C>G (p.Gln245Glu)
 dbSNP gnomAD v4
1g.77933378C>TCA340876902NEXNc.1150C>T (p.Gln384Ter)
c.958C>T (p.Gln320Ter)
c.849C>T
c.1108C>T (p.Gln370Ter)
n.610C>T
n.724C>T
c.916C>T (p.Gln306Ter)
c.733C>T (p.Gln245Ter)
1g.77933379A=CA1177626735NEXNc.1151A= (p.Gln384=)
c.959A= (p.Gln320=)
c.850A=
c.1109A= (p.Gln370=)
n.611A=
n.725A=
c.917A= (p.Gln306=)
c.734A= (p.Gln245=)
1g.77933379A>CCA340876904NEXNc.1151A>C (p.Gln384Pro)
c.959A>C (p.Gln320Pro)
c.850A>C
c.1109A>C (p.Gln370Pro)
n.611A>C
n.725A>C
c.917A>C (p.Gln306Pro)
c.734A>C (p.Gln245Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933379A>GCA340876906NEXNc.1151A>G (p.Gln384Arg)
c.959A>G (p.Gln320Arg)
c.850A>G
c.1109A>G (p.Gln370Arg)
n.611A>G
n.725A>G
c.917A>G (p.Gln306Arg)
c.734A>G (p.Gln245Arg)
1g.77933379A>TCA340876907NEXNc.1151A>T (p.Gln384Leu)
c.959A>T (p.Gln320Leu)
c.850A>T
c.1109A>T (p.Gln370Leu)
n.611A>T
n.725A>T
c.917A>T (p.Gln306Leu)
c.734A>T (p.Gln245Leu)
1g.77933384dupCA658762962NEXNc.1156dup (p.Met386AsnfsTer15)
c.964dup (p.Met322AsnfsTer15)
c.855dup
c.1114dup (p.Met372AsnfsTer15)
n.616dup
n.730dup
c.922dup (p.Met308AsnfsTer15)
c.739dup (p.Met247AsnfsTer15)
1g.77933380A>CCA340876911NEXNc.1152A>C (p.Gln384His)
c.960A>C (p.Gln320His)
c.851A>C
c.1110A>C (p.Gln370His)
n.612A>C
n.726A>C
c.918A>C (p.Gln306His)
c.735A>C (p.Gln245His)
1g.77933380A>GCA418572084NEXNc.1152A>G (p.Gln384=)
c.960A>G (p.Gln320=)
c.851A>G
c.1110A>G (p.Gln370=)
n.612A>G
n.726A>G
c.918A>G (p.Gln306=)
c.735A>G (p.Gln245=)
1g.77933380A>TCA340876909NEXNc.1152A>T (p.Gln384His)
c.960A>T (p.Gln320His)
c.851A>T
c.1110A>T (p.Gln370His)
n.612A>T
n.726A>T
c.918A>T (p.Gln306His)
c.735A>T (p.Gln245His)
1g.77933381A>CCA340876913NEXNc.1153A>C (p.Lys385Gln)
c.961A>C (p.Lys321Gln)
c.852A>C
c.1111A>C (p.Lys371Gln)
n.613A>C
n.727A>C
c.919A>C (p.Lys307Gln)
c.736A>C (p.Lys246Gln)
1g.77933381A>GCA340876918NEXNc.1153A>G (p.Lys385Glu)
c.961A>G (p.Lys321Glu)
c.852A>G
c.1111A>G (p.Lys371Glu)
n.613A>G
n.727A>G
c.919A>G (p.Lys307Glu)
c.736A>G (p.Lys246Glu)
1g.77933381A>TCA340876916NEXNc.1153A>T (p.Lys385Ter)
c.961A>T (p.Lys321Ter)
c.852A>T
c.1111A>T (p.Lys371Ter)
n.613A>T
n.727A>T
c.919A>T (p.Lys307Ter)
c.736A>T (p.Lys246Ter)
1g.77933382A>CCA340876919NEXNc.1154A>C (p.Lys385Thr)
c.962A>C (p.Lys321Thr)
c.853A>C
c.1112A>C (p.Lys371Thr)
n.614A>C
n.728A>C
c.920A>C (p.Lys307Thr)
c.737A>C (p.Lys246Thr)
1g.77933382A>GCA340876920NEXNc.1154A>G (p.Lys385Arg)
c.962A>G (p.Lys321Arg)
c.853A>G
c.1112A>G (p.Lys371Arg)
n.614A>G
n.728A>G
c.920A>G (p.Lys307Arg)
c.737A>G (p.Lys246Arg)
1g.77933382A>TCA340876922NEXNc.1154A>T (p.Lys385Ile)
c.962A>T (p.Lys321Ile)
c.853A>T
c.1112A>T (p.Lys371Ile)
n.614A>T
n.728A>T
c.920A>T (p.Lys307Ile)
c.737A>T (p.Lys246Ile)
1g.77933383A>CCA340876925NEXNc.1155A>C (p.Lys385Asn)
c.963A>C (p.Lys321Asn)
c.854A>C
c.1113A>C (p.Lys371Asn)
n.615A>C
n.729A>C
c.921A>C (p.Lys307Asn)
c.738A>C (p.Lys246Asn)
1g.77933383A>GCA418572085NEXNc.1155A>G (p.Lys385=)
c.963A>G (p.Lys321=)
c.854A>G
c.1113A>G (p.Lys371=)
n.615A>G
n.729A>G
c.921A>G (p.Lys307=)
c.738A>G (p.Lys246=)
1g.77933383A>TCA340876926NEXNc.1155A>T (p.Lys385Asn)
c.963A>T (p.Lys321Asn)
c.854A>T
c.1113A>T (p.Lys371Asn)
n.615A>T
n.729A>T
c.921A>T (p.Lys307Asn)
c.738A>T (p.Lys246Asn)
1g.77933384A>CCA340876932NEXNc.1156A>C (p.Met386Leu)
c.964A>C (p.Met322Leu)
c.855A>C
c.964A>C
c.1114A>C (p.Met372Leu)
n.616A>C
n.730A>C
c.922A>C (p.Met308Leu)
c.739A>C (p.Met247Leu)
1g.77933384A>GCA340876930NEXNc.1156A>G (p.Met386Val)
c.964A>G (p.Met322Val)
c.855A>G
c.964A>G
c.1114A>G (p.Met372Val)
n.616A>G
n.730A>G
c.922A>G (p.Met308Val)
c.739A>G (p.Met247Val)
1g.77933384A>TCA340876929NEXNc.1156A>T (p.Met386Leu)
c.964A>T (p.Met322Leu)
c.855A>T
c.964A>T
c.1114A>T (p.Met372Leu)
n.616A>T
n.730A>T
c.922A>T (p.Met308Leu)
c.739A>T (p.Met247Leu)
1g.77933385T>ACA340876935NEXNc.1157T>A (p.Met386Lys)
c.965T>A (p.Met322Lys)
c.856T>A
c.1115T>A (p.Met372Lys)
n.617T>A
n.731T>A
c.923T>A (p.Met308Lys)
c.740T>A (p.Met247Lys)
1g.77933385T>CCA340876936NEXNc.1157T>C (p.Met386Thr)
c.965T>C (p.Met322Thr)
c.856T>C
c.1115T>C (p.Met372Thr)
n.617T>C
n.731T>C
c.923T>C (p.Met308Thr)
c.740T>C (p.Met247Thr)
1g.77933385T>GCA340876938NEXNc.1157T>G (p.Met386Arg)
c.965T>G (p.Met322Arg)
c.856T>G
c.1115T>G (p.Met372Arg)
n.617T>G
n.731T>G
c.923T>G (p.Met308Arg)
c.740T>G (p.Met247Arg)
1g.77933385_77933390delCA2744232064NEXNc.1157_1162del (p.Met386_Glu388delinsLys)
c.965_970del (p.Met322_Glu324delinsLys)
c.856_861del
c.1115_1120del (p.Met372_Glu374delinsLys)
n.617_622del
n.731_736del
c.923_928del (p.Met308_Glu310delinsLys)
c.740_745del (p.Met247_Glu249delinsLys)
1g.77933386G>ACA340876939NEXNc.1158G>A (p.Met386Ile)
c.966G>A (p.Met322Ile)
c.857G>A
c.1116G>A (p.Met372Ile)
n.618G>A
n.732G>A
c.924G>A (p.Met308Ile)
c.741G>A (p.Met247Ile)
1g.77933386G>CCA340876940NEXNc.1158G>C (p.Met386Ile)
c.966G>C (p.Met322Ile)
c.857G>C
c.1116G>C (p.Met372Ile)
n.618G>C
n.732G>C
c.924G>C (p.Met308Ile)
c.741G>C (p.Met247Ile)
 gnomAD v4
1g.77933386G>TCA340876943NEXNc.1158G>T (p.Met386Ile)
c.966G>T (p.Met322Ile)
c.857G>T
c.1116G>T (p.Met372Ile)
n.618G>T
n.732G>T
c.924G>T (p.Met308Ile)
c.741G>T (p.Met247Ile)
1g.77933386_77933389delinsGGAACA1177626736NEXNc.1158_1161delinsGGAA (p.Met386=)
c.966_969delinsGGAA (p.Met322=)
c.857_860delinsGGAA
c.1116_1119delinsGGAA (p.Met372=)
n.618_621delinsGGAA
n.732_735delinsGGAA
c.924_927delinsGGAA (p.Met308=)
c.741_744delinsGGAA (p.Met247=)
1g.77933387G>ACA340876945NEXNc.1159G>A (p.Glu387Lys)
c.967G>A (p.Glu323Lys)
c.858G>A
c.1117G>A (p.Glu373Lys)
n.619G>A
n.733G>A
c.925G>A (p.Glu309Lys)
c.742G>A (p.Glu248Lys)
1g.77933387G>CCA340876948NEXNc.1159G>C (p.Glu387Gln)
c.967G>C (p.Glu323Gln)
c.858G>C
c.1117G>C (p.Glu373Gln)
n.619G>C
n.733G>C
c.925G>C (p.Glu309Gln)
c.742G>C (p.Glu248Gln)
1g.77933387G>TCA340876946NEXNc.1159G>T (p.Glu387Ter)
c.967G>T (p.Glu323Ter)
c.858G>T
c.1117G>T (p.Glu373Ter)
n.619G>T
n.733G>T
c.925G>T (p.Glu309Ter)
c.742G>T (p.Glu248Ter)
 gnomAD v4
1g.77933393_77933395delCA739053276NEXNc.1165_1167del (p.Glu389del)
c.973_975del (p.Glu325del)
c.864_866del
c.1123_1125del (p.Glu375del)
n.625_627del
n.739_741del
c.931_933del (p.Glu311del)
c.748_750del (p.Glu250del)
 dbSNP gnomAD v4
1g.77933388A>CCA340876950NEXNc.1160A>C (p.Glu387Ala)
c.968A>C (p.Glu323Ala)
c.859A>C
c.1118A>C (p.Glu373Ala)
n.620A>C
n.734A>C
c.926A>C (p.Glu309Ala)
c.743A>C (p.Glu248Ala)
1g.77933388A>GCA340876951NEXNc.1160A>G (p.Glu387Gly)
c.968A>G (p.Glu323Gly)
c.859A>G
c.1118A>G (p.Glu373Gly)
n.620A>G
n.734A>G
c.926A>G (p.Glu309Gly)
c.743A>G (p.Glu248Gly)
1g.77933388A>TCA340876953NEXNc.1160A>T (p.Glu387Val)
c.968A>T (p.Glu323Val)
c.859A>T
c.1118A>T (p.Glu373Val)
n.620A>T
n.734A>T
c.926A>T (p.Glu309Val)
c.743A>T (p.Glu248Val)
1g.77933389A>CCA340876954NEXNc.1161A>C (p.Glu387Asp)
c.969A>C (p.Glu323Asp)
c.860A>C
c.1119A>C (p.Glu373Asp)
n.621A>C
n.735A>C
c.927A>C (p.Glu309Asp)
c.744A>C (p.Glu248Asp)
1g.77933389A>GCA418572086NEXNc.1161A>G (p.Glu387=)
c.969A>G (p.Glu323=)
c.860A>G
c.1119A>G (p.Glu373=)
n.621A>G
n.735A>G
c.927A>G (p.Glu309=)
c.744A>G (p.Glu248=)
1g.77933389A>TCA340876956NEXNc.1161A>T (p.Glu387Asp)
c.969A>T (p.Glu323Asp)
c.860A>T
c.1119A>T (p.Glu373Asp)
n.621A>T
n.735A>T
c.927A>T (p.Glu309Asp)
c.744A>T (p.Glu248Asp)
1g.77933390G>ACA340876958NEXNc.1162G>A (p.Glu388Lys)
c.970G>A (p.Glu324Lys)
c.861G>A
c.1120G>A (p.Glu374Lys)
n.622G>A
n.736G>A
c.928G>A (p.Glu310Lys)
c.745G>A (p.Glu249Lys)
 ClinVar gnomAD v4 COSMIC COSMIC
1g.77933390G>CCA340876959NEXNc.1162G>C (p.Glu388Gln)
c.970G>C (p.Glu324Gln)
c.861G>C
c.1120G>C (p.Glu374Gln)
n.622G>C
n.736G>C
c.928G>C (p.Glu310Gln)
c.745G>C (p.Glu249Gln)
 COSMIC COSMIC
1g.77933390G=CA1177626737NEXNc.1162G= (p.Glu388=)
c.970G= (p.Glu324=)
c.861G=
c.1120G= (p.Glu374=)
n.622G=
n.736G=
c.928G= (p.Glu310=)
c.745G= (p.Glu249=)
1g.77933390G>TCA918808NEXNc.1162G>T (p.Glu388Ter)
c.970G>T (p.Glu324Ter)
c.861G>T
c.1120G>T (p.Glu374Ter)
n.622G>T
n.736G>T
c.928G>T (p.Glu310Ter)
c.745G>T (p.Glu249Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933391A=CA1177626738NEXNc.1163A= (p.Glu388=)
c.971A= (p.Glu324=)
c.862A=
c.1121A= (p.Glu374=)
n.623A=
n.737A=
c.929A= (p.Glu310=)
c.746A= (p.Glu249=)
1g.77933391A>CCA340876962NEXNc.1163A>C (p.Glu388Ala)
c.971A>C (p.Glu324Ala)
c.862A>C
c.1121A>C (p.Glu374Ala)
n.623A>C
n.737A>C
c.929A>C (p.Glu310Ala)
c.746A>C (p.Glu249Ala)
1g.77933391A>GCA918809NEXNc.1163A>G (p.Glu388Gly)
c.971A>G (p.Glu324Gly)
c.862A>G
c.1121A>G (p.Glu374Gly)
n.623A>G
n.737A>G
c.929A>G (p.Glu310Gly)
c.746A>G (p.Glu249Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933391A>TCA340876965NEXNc.1163A>T (p.Glu388Val)
c.971A>T (p.Glu324Val)
c.862A>T
c.1121A>T (p.Glu374Val)
n.623A>T
n.737A>T
c.929A>T (p.Glu310Val)
c.746A>T (p.Glu249Val)
1g.77933392A>CCA340876967NEXNc.1164A>C (p.Glu388Asp)
c.972A>C (p.Glu324Asp)
c.863A>C
c.1122A>C (p.Glu374Asp)
n.624A>C
n.738A>C
c.930A>C (p.Glu310Asp)
c.747A>C (p.Glu249Asp)
1g.77933392A>GCA418572087NEXNc.1164A>G (p.Glu388=)
c.972A>G (p.Glu324=)
c.863A>G
c.1122A>G (p.Glu374=)
n.624A>G
n.738A>G
c.930A>G (p.Glu310=)
c.747A>G (p.Glu249=)
1g.77933392A>TCA340876968NEXNc.1164A>T (p.Glu388Asp)
c.972A>T (p.Glu324Asp)
c.863A>T
c.1122A>T (p.Glu374Asp)
n.624A>T
n.738A>T
c.930A>T (p.Glu310Asp)
c.747A>T (p.Glu249Asp)
1g.77933393G>ACA340876970NEXNc.1165G>A (p.Glu389Lys)
c.973G>A (p.Glu325Lys)
c.864G>A
c.1123G>A (p.Glu375Lys)
n.625G>A
n.739G>A
c.931G>A (p.Glu311Lys)
c.748G>A (p.Glu250Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.77933393G>CCA340876972NEXNc.1165G>C (p.Glu389Gln)
c.973G>C (p.Glu325Gln)
c.864G>C
c.1123G>C (p.Glu375Gln)
n.625G>C
n.739G>C
c.931G>C (p.Glu311Gln)
c.748G>C (p.Glu250Gln)
 gnomAD v4
1g.77933393G=CA1177626739NEXNc.1165G= (p.Glu389=)
c.973G= (p.Glu325=)
c.864G=
c.1123G= (p.Glu375=)
n.625G=
n.739G=
c.931G= (p.Glu311=)
c.748G= (p.Glu250=)
1g.77933393G>TCA340876973NEXNc.1165G>T (p.Glu389Ter)
c.973G>T (p.Glu325Ter)
c.864G>T
c.1123G>T (p.Glu375Ter)
n.625G>T
n.739G>T
c.931G>T (p.Glu311Ter)
c.748G>T (p.Glu250Ter)
1g.77933394A>CCA340876975NEXNc.1166A>C (p.Glu389Ala)
c.974A>C (p.Glu325Ala)
c.865A>C
c.1124A>C (p.Glu375Ala)
n.626A>C
n.740A>C
c.932A>C (p.Glu311Ala)
c.749A>C (p.Glu250Ala)
1g.77933394A>GCA340876976NEXNc.1166A>G (p.Glu389Gly)
c.974A>G (p.Glu325Gly)
c.865A>G
c.1124A>G (p.Glu375Gly)
n.626A>G
n.740A>G
c.932A>G (p.Glu311Gly)
c.749A>G (p.Glu250Gly)
1g.77933394A>TCA340876978NEXNc.1166A>T (p.Glu389Val)
c.974A>T (p.Glu325Val)
c.865A>T
c.1124A>T (p.Glu375Val)
n.626A>T
n.740A>T
c.932A>T (p.Glu311Val)
c.749A>T (p.Glu250Val)
1g.77933398delCA2580063259NEXNc.1170del (p.Lys390AsnfsTer12)
c.978del (p.Lys326AsnfsTer12)
c.869del
c.1128del (p.Lys376AsnfsTer12)
n.630del
n.744del
c.936del (p.Lys312AsnfsTer12)
c.753del (p.Lys251AsnfsTer12)
 ClinVar gnomAD v4
1g.77933395A>CCA340876979NEXNc.1167A>C (p.Glu389Asp)
c.975A>C (p.Glu325Asp)
c.866A>C
c.1125A>C (p.Glu375Asp)
n.627A>C
n.741A>C
c.933A>C (p.Glu311Asp)
c.750A>C (p.Glu250Asp)
1g.77933395A>GCA418572088NEXNc.1167A>G (p.Glu389=)
c.975A>G (p.Glu325=)
c.866A>G
c.1125A>G (p.Glu375=)
n.627A>G
n.741A>G
c.933A>G (p.Glu311=)
c.750A>G (p.Glu250=)
1g.77933395A>TCA340876981NEXNc.1167A>T (p.Glu389Asp)
c.975A>T (p.Glu325Asp)
c.866A>T
c.1125A>T (p.Glu375Asp)
n.627A>T
n.741A>T
c.933A>T (p.Glu311Asp)
c.750A>T (p.Glu250Asp)
1g.77933396A>CCA340876982NEXNc.1168A>C (p.Lys390Gln)
c.976A>C (p.Lys326Gln)
c.867A>C
c.1126A>C (p.Lys376Gln)
n.628A>C
n.742A>C
c.934A>C (p.Lys312Gln)
c.751A>C (p.Lys251Gln)
1g.77933396A>GCA340876983NEXNc.1168A>G (p.Lys390Glu)
c.976A>G (p.Lys326Glu)
c.867A>G
c.1126A>G (p.Lys376Glu)
n.628A>G
n.742A>G
c.934A>G (p.Lys312Glu)
c.751A>G (p.Lys251Glu)
 gnomAD v4
1g.77933396A>TCA340876985NEXNc.1168A>T (p.Lys390Ter)
c.976A>T (p.Lys326Ter)
c.867A>T
c.1126A>T (p.Lys376Ter)
n.628A>T
n.742A>T
c.934A>T (p.Lys312Ter)
c.751A>T (p.Lys251Ter)
1g.77933397A>CCA340876987NEXNc.1169A>C (p.Lys390Thr)
c.977A>C (p.Lys326Thr)
c.868A>C
c.1127A>C (p.Lys376Thr)
n.629A>C
n.743A>C
c.935A>C (p.Lys312Thr)
c.752A>C (p.Lys251Thr)
 ClinVar gnomAD v4
1g.77933397A>GCA340876989NEXNc.1169A>G (p.Lys390Arg)
c.977A>G (p.Lys326Arg)
c.868A>G
c.1127A>G (p.Lys376Arg)
n.629A>G
n.743A>G
c.935A>G (p.Lys312Arg)
c.752A>G (p.Lys251Arg)
1g.77933397A>TCA340876990NEXNc.1169A>T (p.Lys390Ile)
c.977A>T (p.Lys326Ile)
c.868A>T
c.1127A>T (p.Lys376Ile)
n.629A>T
n.743A>T
c.935A>T (p.Lys312Ile)
c.752A>T (p.Lys251Ile)
1g.77933397_77933398insCGATACA2646274522NEXNc.1169_1170insCGATA (p.Lys390AsnfsTer14)
c.977_978insCGATA (p.Lys326AsnfsTer14)
c.868_869insCGATA
c.1127_1128insCGATA (p.Lys376AsnfsTer14)
n.629_630insCGATA
n.743_744insCGATA
c.935_936insCGATA (p.Lys312AsnfsTer14)
c.752_753insCGATA (p.Lys251AsnfsTer14)
 gnomAD v4
1g.77933398A>CCA340876994NEXNc.1170A>C (p.Lys390Asn)
c.978A>C (p.Lys326Asn)
c.869A>C
c.1128A>C (p.Lys376Asn)
n.630A>C
n.744A>C
c.936A>C (p.Lys312Asn)
c.753A>C (p.Lys251Asn)
1g.77933398A>GCA418572089NEXNc.1170A>G (p.Lys390=)
c.978A>G (p.Lys326=)
c.869A>G
c.1128A>G (p.Lys376=)
n.630A>G
n.744A>G
c.936A>G (p.Lys312=)
c.753A>G (p.Lys251=)
1g.77933398A>TCA340876992NEXNc.1170A>T (p.Lys390Asn)
c.978A>T (p.Lys326Asn)
c.869A>T
c.1128A>T (p.Lys376Asn)
n.630A>T
n.744A>T
c.936A>T (p.Lys312Asn)
c.753A>T (p.Lys251Asn)
1g.77933399C>ACA418572090NEXNc.1171C>A (p.Arg391=)
c.979C>A (p.Arg327=)
c.870C>A
c.1129C>A (p.Arg377=)
n.631C>A
n.745C>A
c.937C>A (p.Arg313=)
c.754C>A (p.Arg252=)
1g.77933399C=CA1143395136NEXNc.1171C= (p.Arg391=)
c.979C= (p.Arg327=)
c.870C=
c.1129C= (p.Arg377=)
n.631C=
n.745C=
c.937C= (p.Arg313=)
c.754C= (p.Arg252=)
1g.77933399C>GCA340876996NEXNc.1171C>G (p.Arg391Gly)
c.979C>G (p.Arg327Gly)
c.870C>G
c.1129C>G (p.Arg377Gly)
n.631C>G
n.745C>G
c.937C>G (p.Arg313Gly)
c.754C>G (p.Arg252Gly)
 gnomAD v4
1g.77933399C>TCA918810NEXNc.1171C>T (p.Arg391Ter)
c.979C>T (p.Arg327Ter)
c.870C>T
c.1129C>T (p.Arg377Ter)
n.631C>T
n.745C>T
c.937C>T (p.Arg313Ter)
c.754C>T (p.Arg252Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933400G>ACA918811NEXNc.1172G>A (p.Arg391Gln)
c.980G>A (p.Arg327Gln)
c.871G>A
c.1130G>A (p.Arg377Gln)
n.632G>A
n.746G>A
c.938G>A (p.Arg313Gln)
c.755G>A (p.Arg252Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933400G>CCA340876998NEXNc.1172G>C (p.Arg391Pro)
c.980G>C (p.Arg327Pro)
c.871G>C
c.1130G>C (p.Arg377Pro)
n.632G>C
n.746G>C
c.938G>C (p.Arg313Pro)
c.755G>C (p.Arg252Pro)
1g.77933400G=CA1177626740NEXNc.1172G= (p.Arg391=)
c.980G= (p.Arg327=)
c.871G=
c.1130G= (p.Arg377=)
n.632G=
n.746G=
c.938G= (p.Arg313=)
c.755G= (p.Arg252=)
1g.77933400G>TCA340876999NEXNc.1172G>T (p.Arg391Leu)
c.980G>T (p.Arg327Leu)
c.871G>T
c.1130G>T (p.Arg377Leu)
n.632G>T
n.746G>T
c.938G>T (p.Arg313Leu)
c.755G>T (p.Arg252Leu)
1g.77933401A>CCA418572091NEXNc.1173A>C (p.Arg391=)
c.981A>C (p.Arg327=)
c.872A>C
c.1131A>C (p.Arg377=)
n.633A>C
n.747A>C
c.939A>C (p.Arg313=)
c.756A>C (p.Arg252=)
1g.77933401A>GCA418572093NEXNc.1173A>G (p.Arg391=)
c.981A>G (p.Arg327=)
c.872A>G
c.1131A>G (p.Arg377=)
n.633A>G
n.747A>G
c.939A>G (p.Arg313=)
c.756A>G (p.Arg252=)
1g.77933401A>TCA418572092NEXNc.1173A>T (p.Arg391=)
c.981A>T (p.Arg327=)
c.872A>T
c.1131A>T (p.Arg377=)
n.633A>T
n.747A>T
c.939A>T (p.Arg313=)
c.756A>T (p.Arg252=)

Number of alleles fetched