Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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)
 ClinVar 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=)
1g.77933402C>ACA418572094NEXNc.1174C>A (p.Arg392=)
c.982C>A (p.Arg328=)
c.873C>A
c.1132C>A (p.Arg378=)
n.634C>A
n.748C>A
c.940C>A (p.Arg314=)
c.757C>A (p.Arg253=)
1g.77933402C=CA1177626741NEXNc.1174C= (p.Arg392=)
c.982C= (p.Arg328=)
c.873C=
c.1132C= (p.Arg378=)
n.634C=
n.748C=
c.940C= (p.Arg314=)
c.757C= (p.Arg253=)
1g.77933402C>GCA340877001NEXNc.1174C>G (p.Arg392Gly)
c.982C>G (p.Arg328Gly)
c.873C>G
c.1132C>G (p.Arg378Gly)
n.634C>G
n.748C>G
c.940C>G (p.Arg314Gly)
c.757C>G (p.Arg253Gly)
1g.77933402C>TCA918812NEXNc.1174C>T (p.Arg392Ter)
c.982C>T (p.Arg328Ter)
c.873C>T
c.1132C>T (p.Arg378Ter)
n.634C>T
n.748C>T
c.940C>T (p.Arg314Ter)
c.757C>T (p.Arg253Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933403G>ACA24684248NEXNc.1175G>A (p.Arg392Gln)
c.983G>A (p.Arg328Gln)
c.874G>A
c.1133G>A (p.Arg378Gln)
n.635G>A
n.749G>A
c.941G>A (p.Arg314Gln)
c.758G>A (p.Arg253Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.77933403G>CCA340877004NEXNc.1175G>C (p.Arg392Pro)
c.983G>C (p.Arg328Pro)
c.874G>C
c.1133G>C (p.Arg378Pro)
n.635G>C
n.749G>C
c.941G>C (p.Arg314Pro)
c.758G>C (p.Arg253Pro)
 ClinVar dbSNP
1g.77933403G=CA1177626742NEXNc.1175G= (p.Arg392=)
c.983G= (p.Arg328=)
c.874G=
c.1133G= (p.Arg378=)
n.635G=
n.749G=
c.941G= (p.Arg314=)
c.758G= (p.Arg253=)
1g.77933403G>TCA340877005NEXNc.1175G>T (p.Arg392Leu)
c.983G>T (p.Arg328Leu)
c.874G>T
c.1133G>T (p.Arg378Leu)
n.635G>T
n.749G>T
c.941G>T (p.Arg314Leu)
c.758G>T (p.Arg253Leu)
 ClinVar dbSNP gnomAD v4
1g.77933404A>CCA418572095NEXNc.1176A>C (p.Arg392=)
c.984A>C (p.Arg328=)
c.875A>C
c.1134A>C (p.Arg378=)
n.636A>C
n.750A>C
c.942A>C (p.Arg314=)
c.759A>C (p.Arg253=)
1g.77933404A>GCA418572096NEXNc.1176A>G (p.Arg392=)
c.984A>G (p.Arg328=)
c.875A>G
c.1134A>G (p.Arg378=)
n.636A>G
n.750A>G
c.942A>G (p.Arg314=)
c.759A>G (p.Arg253=)
1g.77933404A>TCA418572097NEXNc.1176A>T (p.Arg392=)
c.984A>T (p.Arg328=)
c.875A>T
c.1134A>T (p.Arg378=)
n.636A>T
n.750A>T
c.942A>T (p.Arg314=)
c.759A>T (p.Arg253=)
1g.77933405A=CA1177626745NEXNc.1177A= (p.Thr393=)
c.985A= (p.Thr329=)
c.876A=
c.1135A= (p.Thr379=)
n.637A=
n.751A=
c.943A= (p.Thr315=)
c.760A= (p.Thr254=)
1g.77933405A>CCA340877006NEXNc.1177A>C (p.Thr393Pro)
c.985A>C (p.Thr329Pro)
c.876A>C
c.1135A>C (p.Thr379Pro)
n.637A>C
n.751A>C
c.943A>C (p.Thr315Pro)
c.760A>C (p.Thr254Pro)
1g.77933405A>GCA340877007NEXNc.1177A>G (p.Thr393Ala)
c.985A>G (p.Thr329Ala)
c.876A>G
c.1135A>G (p.Thr379Ala)
n.637A>G
n.751A>G
c.943A>G (p.Thr315Ala)
c.760A>G (p.Thr254Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.77933405A>TCA340877008NEXNc.1177A>T (p.Thr393Ser)
c.985A>T (p.Thr329Ser)
c.876A>T
c.1135A>T (p.Thr379Ser)
n.637A>T
n.751A>T
c.943A>T (p.Thr315Ser)
c.760A>T (p.Thr254Ser)
1g.77933406C>ACA340877012NEXNc.1178C>A (p.Thr393Lys)
c.986C>A (p.Thr329Lys)
c.877C>A
c.1136C>A (p.Thr379Lys)
n.638C>A
n.752C>A
c.944C>A (p.Thr315Lys)
c.761C>A (p.Thr254Lys)
 gnomAD v4
1g.77933406C>GCA340877011NEXNc.1178C>G (p.Thr393Arg)
c.986C>G (p.Thr329Arg)
c.877C>G
c.1136C>G (p.Thr379Arg)
n.638C>G
n.752C>G
c.944C>G (p.Thr315Arg)
c.761C>G (p.Thr254Arg)
1g.77933406C>TCA340877009NEXNc.1178C>T (p.Thr393Ile)
c.986C>T (p.Thr329Ile)
c.877C>T
c.1136C>T (p.Thr379Ile)
n.638C>T
n.752C>T
c.944C>T (p.Thr315Ile)
c.761C>T (p.Thr254Ile)
1g.77933406_77933408delinsCAGCA1177626746NEXNc.1178_1180delinsCAG (p.Thr393=)
c.986_988delinsCAG (p.Thr329=)
c.877_879delinsCAG
c.1136_1138delinsCAG (p.Thr379=)
n.638_640delinsCAG
n.752_754delinsCAG
c.944_946delinsCAG (p.Thr315=)
c.761_763delinsCAG (p.Thr254=)
1g.77933407A=CA1177626749NEXNc.1179A= (p.Thr393=)
c.987A= (p.Thr329=)
c.878A=
c.1137A= (p.Thr379=)
n.639A=
n.753A=
c.945A= (p.Thr315=)
c.762A= (p.Thr254=)
1g.77933407A>CCA418572098NEXNc.1179A>C (p.Thr393=)
c.987A>C (p.Thr329=)
c.878A>C
c.1137A>C (p.Thr379=)
n.639A>C
n.753A>C
c.945A>C (p.Thr315=)
c.762A>C (p.Thr254=)
 ClinVar dbSNP gnomAD v4
1g.77933407A>GCA418572099NEXNc.1179A>G (p.Thr393=)
c.987A>G (p.Thr329=)
c.878A>G
c.1137A>G (p.Thr379=)
n.639A>G
n.753A>G
c.945A>G (p.Thr315=)
c.762A>G (p.Thr254=)
 dbSNP
1g.77933407A>TCA418572100NEXNc.1179A>T (p.Thr393=)
c.987A>T (p.Thr329=)
c.878A>T
c.1137A>T (p.Thr379=)
n.639A>T
n.753A>T
c.945A>T (p.Thr315=)
c.762A>T (p.Thr254=)
1g.77933407_77933410delinsAGAGCA1148224376NEXNc.1179_1182delinsAGAG (p.Thr393=)
c.987_990delinsAGAG (p.Thr329=)
c.878_881delinsAGAG
c.1137_1140delinsAGAG (p.Thr379=)
n.639_642delinsAGAG
n.753_756delinsAGAG
c.945_948delinsAGAG (p.Thr315=)
c.762_765delinsAGAG (p.Thr254=)
1g.77933409_77933410delCA184438NEXNc.1181_1182del (p.Glu394GlyfsTer6)
c.989_990del (p.Glu330GlyfsTer6)
c.880_881del
c.1139_1140del (p.Glu380GlyfsTer6)
n.641_642del
n.755_756del
c.947_948del (p.Glu316GlyfsTer6)
c.764_765del (p.Glu255GlyfsTer6)
 ClinVar dbSNP
1g.77933408G>ACA340877015NEXNc.1180G>A (p.Glu394Lys)
c.988G>A (p.Glu330Lys)
c.879G>A
c.1138G>A (p.Glu380Lys)
n.640G>A
n.754G>A
c.946G>A (p.Glu316Lys)
c.763G>A (p.Glu255Lys)
 gnomAD v4
1g.77933408G>CCA340877018NEXNc.1180G>C (p.Glu394Gln)
c.988G>C (p.Glu330Gln)
c.879G>C
c.1138G>C (p.Glu380Gln)
n.640G>C
n.754G>C
c.946G>C (p.Glu316Gln)
c.763G>C (p.Glu255Gln)
1g.77933408G>TCA340877016NEXNc.1180G>T (p.Glu394Ter)
c.988G>T (p.Glu330Ter)
c.879G>T
c.1138G>T (p.Glu380Ter)
n.640G>T
n.754G>T
c.946G>T (p.Glu316Ter)
c.763G>T (p.Glu255Ter)
1g.77933409A>CCA340877020NEXNc.1181A>C (p.Glu394Ala)
c.989A>C (p.Glu330Ala)
c.880A>C
c.1139A>C (p.Glu380Ala)
n.641A>C
n.755A>C
c.947A>C (p.Glu316Ala)
c.764A>C (p.Glu255Ala)
1g.77933409A>GCA340877022NEXNc.1181A>G (p.Glu394Gly)
c.989A>G (p.Glu330Gly)
c.880A>G
c.1139A>G (p.Glu380Gly)
n.641A>G
n.755A>G
c.947A>G (p.Glu316Gly)
c.764A>G (p.Glu255Gly)
1g.77933409A>TCA340877024NEXNc.1181A>T (p.Glu394Val)
c.989A>T (p.Glu330Val)
c.880A>T
c.1139A>T (p.Glu380Val)
n.641A>T
n.755A>T
c.947A>T (p.Glu316Val)
c.764A>T (p.Glu255Val)
1g.77933410G>ACA418572101NEXNc.1182G>A (p.Glu394=)
c.990G>A (p.Glu330=)
c.881G>A
c.1140G>A (p.Glu380=)
n.642G>A
n.756G>A
c.948G>A (p.Glu316=)
c.765G>A (p.Glu255=)
 ClinVar gnomAD v4
1g.77933410G>CCA340877028NEXNc.1182G>C (p.Glu394Asp)
c.990G>C (p.Glu330Asp)
c.881G>C
c.1140G>C (p.Glu380Asp)
n.642G>C
n.756G>C
c.948G>C (p.Glu316Asp)
c.765G>C (p.Glu255Asp)
1g.77933410G>TCA340877026NEXNc.1182G>T (p.Glu394Asp)
c.990G>T (p.Glu330Asp)
c.881G>T
c.1140G>T (p.Glu380Asp)
n.642G>T
n.756G>T
c.948G>T (p.Glu316Asp)
c.765G>T (p.Glu255Asp)
1g.77933411G>ACA340877032NEXNc.1183G>A (p.Glu395Lys)
c.991G>A (p.Glu331Lys)
c.882G>A
c.1141G>A (p.Glu381Lys)
n.643G>A
n.757G>A
c.949G>A (p.Glu317Lys)
c.766G>A (p.Glu256Lys)
1g.77933411G>CCA340877030NEXNc.1183G>C (p.Glu395Gln)
c.991G>C (p.Glu331Gln)
c.882G>C
c.1141G>C (p.Glu381Gln)
n.643G>C
n.757G>C
c.949G>C (p.Glu317Gln)
c.766G>C (p.Glu256Gln)
1g.77933411G>TCA340877031NEXNc.1183G>T (p.Glu395Ter)
c.991G>T (p.Glu331Ter)
c.882G>T
c.1141G>T (p.Glu381Ter)
n.643G>T
n.757G>T
c.949G>T (p.Glu317Ter)
c.766G>T (p.Glu256Ter)
1g.77933412A>CCA340877034NEXNc.1184A>C (p.Glu395Ala)
c.992A>C (p.Glu331Ala)
c.883A>C
c.1142A>C (p.Glu381Ala)
n.644A>C
n.758A>C
c.950A>C (p.Glu317Ala)
c.767A>C (p.Glu256Ala)
1g.77933412A>GCA340877036NEXNc.1184A>G (p.Glu395Gly)
c.992A>G (p.Glu331Gly)
c.883A>G
c.1142A>G (p.Glu381Gly)
n.644A>G
n.758A>G
c.950A>G (p.Glu317Gly)
c.767A>G (p.Glu256Gly)
1g.77933412A>TCA340877037NEXNc.1184A>T (p.Glu395Val)
c.992A>T (p.Glu331Val)
c.883A>T
c.1142A>T (p.Glu381Val)
n.644A>T
n.758A>T
c.950A>T (p.Glu317Val)
c.767A>T (p.Glu256Val)
1g.77933413G>ACA418572102NEXNc.1185G>A (p.Glu395=)
c.993G>A (p.Glu331=)
c.884G>A
c.1143G>A (p.Glu381=)
n.645G>A
n.759G>A
c.951G>A (p.Glu317=)
c.768G>A (p.Glu256=)
 dbSNP
1g.77933413G>CCA340877039NEXNc.1185G>C (p.Glu395Asp)
c.993G>C (p.Glu331Asp)
c.884G>C
c.1143G>C (p.Glu381Asp)
n.645G>C
n.759G>C
c.951G>C (p.Glu317Asp)
c.768G>C (p.Glu256Asp)
1g.77933413G=CA1177626750NEXNc.1185G= (p.Glu395=)
c.993G= (p.Glu331=)
c.884G=
c.1143G= (p.Glu381=)
n.645G=
n.759G=
c.951G= (p.Glu317=)
c.768G= (p.Glu256=)
1g.77933413G>TCA918813NEXNc.1185G>T (p.Glu395Asp)
c.993G>T (p.Glu331Asp)
c.884G>T
c.1143G>T (p.Glu381Asp)
n.645G>T
n.759G>T
c.951G>T (p.Glu317Asp)
c.768G>T (p.Glu256Asp)
 dbSNP ExAC gnomAD v2
1g.77933414G>ACA918814NEXNc.1186G>A (p.Glu396Lys)
c.994G>A (p.Glu332Lys)
c.885G>A
c.1144G>A (p.Glu382Lys)
n.646G>A
n.760G>A
c.952G>A (p.Glu318Lys)
c.769G>A (p.Glu257Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933414G>CCA340877042NEXNc.1186G>C (p.Glu396Gln)
c.994G>C (p.Glu332Gln)
c.885G>C
c.1144G>C (p.Glu382Gln)
n.646G>C
n.760G>C
c.952G>C (p.Glu318Gln)
c.769G>C (p.Glu257Gln)
1g.77933414G=CA1145357745NEXNc.1186G= (p.Glu396=)
c.994G= (p.Glu332=)
c.885G=
c.1144G= (p.Glu382=)
n.646G=
n.760G=
c.952G= (p.Glu318=)
c.769G= (p.Glu257=)
1g.77933414G>TCA340877043NEXNc.1186G>T (p.Glu396Ter)
c.994G>T (p.Glu332Ter)
c.885G>T
c.1144G>T (p.Glu382Ter)
n.646G>T
n.760G>T
c.952G>T (p.Glu318Ter)
c.769G>T (p.Glu257Ter)
 gnomAD v4
1g.77933415A>CCA340877045NEXNc.1187A>C (p.Glu396Ala)
c.995A>C (p.Glu332Ala)
c.886A>C
c.1145A>C (p.Glu382Ala)
n.647A>C
n.761A>C
c.953A>C (p.Glu318Ala)
c.770A>C (p.Glu257Ala)
1g.77933415A>GCA340877046NEXNc.1187A>G (p.Glu396Gly)
c.995A>G (p.Glu332Gly)
c.886A>G
c.1145A>G (p.Glu382Gly)
n.647A>G
n.761A>G
c.953A>G (p.Glu318Gly)
c.770A>G (p.Glu257Gly)
1g.77933415A>TCA340877047NEXNc.1187A>T (p.Glu396Val)
c.995A>T (p.Glu332Val)
c.886A>T
c.1145A>T (p.Glu382Val)
n.647A>T
n.761A>T
c.953A>T (p.Glu318Val)
c.770A>T (p.Glu257Val)
1g.77933416A>CCA340877049NEXNc.1188A>C (p.Glu396Asp)
c.996A>C (p.Glu332Asp)
c.887A>C
c.1146A>C (p.Glu382Asp)
n.648A>C
n.762A>C
c.954A>C (p.Glu318Asp)
c.771A>C (p.Glu257Asp)
1g.77933416A>GCA418572103NEXNc.1188A>G (p.Glu396=)
c.996A>G (p.Glu332=)
c.887A>G
c.1146A>G (p.Glu382=)
n.648A>G
n.762A>G
c.954A>G (p.Glu318=)
c.771A>G (p.Glu257=)
1g.77933416A>TCA340877051NEXNc.1188A>T (p.Glu396Asp)
c.996A>T (p.Glu332Asp)
c.887A>T
c.1146A>T (p.Glu382Asp)
n.648A>T
n.762A>T
c.954A>T (p.Glu318Asp)
c.771A>T (p.Glu257Asp)
1g.77933417C>ACA418572104NEXNc.1189C>A (p.Arg397=)
c.997C>A (p.Arg333=)
c.888C>A
c.1147C>A (p.Arg383=)
n.649C>A
n.763C>A
c.955C>A (p.Arg319=)
c.772C>A (p.Arg258=)
 dbSNP gnomAD v3 gnomAD v4
1g.77933417C=CA1177626752NEXNc.1189C= (p.Arg397=)
c.997C= (p.Arg333=)
c.888C=
c.1147C= (p.Arg383=)
n.649C=
n.763C=
c.955C= (p.Arg319=)
c.772C= (p.Arg258=)
1g.77933417C>GCA340877053NEXNc.1189C>G (p.Arg397Gly)
c.997C>G (p.Arg333Gly)
c.888C>G
c.1147C>G (p.Arg383Gly)
n.649C>G
n.763C>G
c.955C>G (p.Arg319Gly)
c.772C>G (p.Arg258Gly)
1g.77933417C>TCA918815NEXNc.1189C>T (p.Arg397Trp)
c.997C>T (p.Arg333Trp)
c.888C>T
c.1147C>T (p.Arg383Trp)
n.649C>T
n.763C>T
c.955C>T (p.Arg319Trp)
c.772C>T (p.Arg258Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.77933417_77933418delinsCGCA1177626755NEXNc.1189_1190delinsCG (p.Arg397=)
c.997_998delinsCG (p.Arg333=)
c.888_889delinsCG
c.1147_1148delinsCG (p.Arg383=)
n.649_650delinsCG
n.763_764delinsCG
c.955_956delinsCG (p.Arg319=)
c.772_773delinsCG (p.Arg258=)
1g.77933418G>ACA918816NEXNc.1190G>A (p.Arg397Gln)
c.998G>A (p.Arg333Gln)
c.889G>A
c.1148G>A (p.Arg383Gln)
n.650G>A
n.764G>A
c.956G>A (p.Arg319Gln)
c.773G>A (p.Arg258Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933418G>CCA340877056NEXNc.1190G>C (p.Arg397Pro)
c.998G>C (p.Arg333Pro)
c.889G>C
c.1148G>C (p.Arg383Pro)
n.650G>C
n.764G>C
c.956G>C (p.Arg319Pro)
c.773G>C (p.Arg258Pro)
1g.77933418G=CA1143506653NEXNc.1190G= (p.Arg397=)
c.998G= (p.Arg333=)
c.889G=
c.1148G= (p.Arg383=)
n.650G=
n.764G=
c.956G= (p.Arg319=)
c.773G= (p.Arg258=)
1g.77933418G>TCA340877057NEXNc.1190G>T (p.Arg397Leu)
c.998G>T (p.Arg333Leu)
c.889G>T
c.1148G>T (p.Arg383Leu)
n.650G>T
n.764G>T
c.956G>T (p.Arg319Leu)
c.773G>T (p.Arg258Leu)
1g.77933418_77933419delCA2600639591NEXNc.1190_1191del (p.Arg397GlnfsTer3)
c.998_999del (p.Arg333GlnfsTer3)
c.889_890del
c.1148_1149del (p.Arg383GlnfsTer3)
n.650_651del
n.764_765del
c.956_957del (p.Arg319GlnfsTer3)
c.773_774del (p.Arg258GlnfsTer3)
 gnomAD v3 gnomAD v4
1g.77933419delCA1177626756NEXNc.1191del (p.Lys398SerfsTer4)
c.999del (p.Lys334SerfsTer4)
c.890del
c.1149del (p.Lys384SerfsTer4)
n.651del
n.765del
c.957del (p.Lys320SerfsTer4)
c.774del (p.Lys259SerfsTer4)
 dbSNP gnomAD v4
1g.77933419G>ACA418572105NEXNc.1191G>A (p.Arg397=)
c.999G>A (p.Arg333=)
c.890G>A
c.1149G>A (p.Arg383=)
n.651G>A
n.765G>A
c.957G>A (p.Arg319=)
c.774G>A (p.Arg258=)
1g.77933419G>CCA418572106NEXNc.1191G>C (p.Arg397=)
c.999G>C (p.Arg333=)
c.890G>C
c.1149G>C (p.Arg383=)
n.651G>C
n.765G>C
c.957G>C (p.Arg319=)
c.774G>C (p.Arg258=)
1g.77933419G>TCA418572107NEXNc.1191G>T (p.Arg397=)
c.999G>T (p.Arg333=)
c.890G>T
c.1149G>T (p.Arg383=)
n.651G>T
n.765G>T
c.957G>T (p.Arg319=)
c.774G>T (p.Arg258=)
1g.77933420A>CCA340877058NEXNc.1192A>C (p.Lys398Gln)
c.1000A>C (p.Lys334Gln)
c.891A>C
c.1150A>C (p.Lys384Gln)
n.652A>C
n.766A>C
c.958A>C (p.Lys320Gln)
c.775A>C (p.Lys259Gln)
 ClinVar dbSNP
1g.77933420A>GCA340877060NEXNc.1192A>G (p.Lys398Glu)
c.1000A>G (p.Lys334Glu)
c.891A>G
c.1150A>G (p.Lys384Glu)
n.652A>G
n.766A>G
c.958A>G (p.Lys320Glu)
c.775A>G (p.Lys259Glu)
1g.77933420A>TCA340877062NEXNc.1192A>T (p.Lys398Ter)
c.1000A>T (p.Lys334Ter)
c.891A>T
c.1150A>T (p.Lys384Ter)
n.652A>T
n.766A>T
c.958A>T (p.Lys320Ter)
c.775A>T (p.Lys259Ter)
1g.77933420_77933421insCCA2600639592NEXNc.1192_1193insC (p.Lys398ThrfsTer3)
c.1000_1001insC (p.Lys334ThrfsTer3)
c.891_892insC
c.1150_1151insC (p.Lys384ThrfsTer3)
n.652_653insC
n.766_767insC
c.958_959insC (p.Lys320ThrfsTer3)
c.775_776insC (p.Lys259ThrfsTer3)
 gnomAD v3 gnomAD v4
1g.77933421A=CA1177626757NEXNc.1193A= (p.Lys398=)
c.1001A= (p.Lys334=)
c.892A=
c.1151A= (p.Lys384=)
n.653A=
n.767A=
c.959A= (p.Lys320=)
c.776A= (p.Lys259=)
1g.77933421A>CCA340877063NEXNc.1193A>C (p.Lys398Thr)
c.1001A>C (p.Lys334Thr)
c.892A>C
c.1151A>C (p.Lys384Thr)
n.653A>C
n.767A>C
c.959A>C (p.Lys320Thr)
c.776A>C (p.Lys259Thr)
 COSMIC COSMIC
1g.77933421A>GCA340877065NEXNc.1193A>G (p.Lys398Arg)
c.1001A>G (p.Lys334Arg)
c.892A>G
c.1151A>G (p.Lys384Arg)
n.653A>G
n.767A>G
c.959A>G (p.Lys320Arg)
c.776A>G (p.Lys259Arg)
 dbSNP
1g.77933421A>TCA340877066NEXNc.1193A>T (p.Lys398Met)
c.1001A>T (p.Lys334Met)
c.892A>T
c.1151A>T (p.Lys384Met)
n.653A>T
n.767A>T
c.959A>T (p.Lys320Met)
c.776A>T (p.Lys259Met)
1g.77933422G>ACA418572108NEXNc.1194G>A (p.Lys398=)
c.1002G>A (p.Lys334=)
c.893G>A
c.1152G>A (p.Lys384=)
n.654G>A
n.768G>A
c.960G>A (p.Lys320=)
c.777G>A (p.Lys259=)
1g.77933422G>CCA340877070NEXNc.1194G>C (p.Lys398Asn)
c.1002G>C (p.Lys334Asn)
c.893G>C
c.1152G>C (p.Lys384Asn)
n.654G>C
n.768G>C
c.960G>C (p.Lys320Asn)
c.777G>C (p.Lys259Asn)
1g.77933422G>TCA340877068NEXNc.1194G>T (p.Lys398Asn)
c.1002G>T (p.Lys334Asn)
c.893G>T
c.1152G>T (p.Lys384Asn)
n.654G>T
n.768G>T
c.960G>T (p.Lys320Asn)
c.777G>T (p.Lys259Asn)
1g.77933423C>ACA918817NEXNc.1195C>A (p.His399Asn)
c.1003C>A (p.His335Asn)
c.894C>A
c.1153C>A (p.His385Asn)
n.655C>A
n.769C>A
c.961C>A (p.His321Asn)
c.778C>A (p.His260Asn)
 ClinVar dbSNP ExAC gnomAD v2
1g.77933423C=CA1177626758NEXNc.1195C= (p.His399=)
c.1003C= (p.His335=)
c.894C=
c.1153C= (p.His385=)
n.655C=
n.769C=
c.961C= (p.His321=)
c.778C= (p.His260=)
1g.77933423C>GCA340877072NEXNc.1195C>G (p.His399Asp)
c.1003C>G (p.His335Asp)
c.894C>G
c.1153C>G (p.His385Asp)
n.655C>G
n.769C>G
c.961C>G (p.His321Asp)
c.778C>G (p.His260Asp)
1g.77933423C>TCA340877073NEXNc.1195C>T (p.His399Tyr)
c.1003C>T (p.His335Tyr)
c.894C>T
c.1153C>T (p.His385Tyr)
n.655C>T
n.769C>T
c.961C>T (p.His321Tyr)
c.778C>T (p.His260Tyr)
1g.77933424A=CA1177626759NEXNc.1196A= (p.His399=)
c.1004A= (p.His335=)
c.895A=
c.1154A= (p.His385=)
n.656A=
n.770A=
c.962A= (p.His321=)
c.779A= (p.His260=)
1g.77933424A>CCA340877076NEXNc.1196A>C (p.His399Pro)
c.1004A>C (p.His335Pro)
c.895A>C
c.1154A>C (p.His385Pro)
n.656A>C
n.770A>C
c.962A>C (p.His321Pro)
c.779A>C (p.His260Pro)
1g.77933424A>GCA340877077NEXNc.1196A>G (p.His399Arg)
c.1004A>G (p.His335Arg)
c.895A>G
c.1154A>G (p.His385Arg)
n.656A>G
n.770A>G
c.962A>G (p.His321Arg)
c.779A>G (p.His260Arg)
 dbSNP gnomAD v4
1g.77933424A>TCA340877078NEXNc.1196A>T (p.His399Leu)
c.1004A>T (p.His335Leu)
c.895A>T
c.1154A>T (p.His385Leu)
n.656A>T
n.770A>T
c.962A>T (p.His321Leu)
c.779A>T (p.His260Leu)
1g.77933425T>ACA340877080NEXNc.1197T>A (p.His399Gln)
c.1005T>A (p.His335Gln)
c.896T>A
c.1155T>A (p.His385Gln)
n.657T>A
n.771T>A
c.963T>A (p.His321Gln)
c.780T>A (p.His260Gln)
 dbSNP
1g.77933425T>CCA418572109NEXNc.1197T>C (p.His399=)
c.1005T>C (p.His335=)
c.896T>C
c.1155T>C (p.His385=)
n.657T>C
n.771T>C
c.963T>C (p.His321=)
c.780T>C (p.His260=)
1g.77933425T>GCA340877082NEXNc.1197T>G (p.His399Gln)
c.1005T>G (p.His335Gln)
c.896T>G
c.1155T>G (p.His385Gln)
n.657T>G
n.771T>G
c.963T>G (p.His321Gln)
c.780T>G (p.His260Gln)
1g.77933425T=CA1177626760NEXNc.1197T= (p.His399=)
c.1005T= (p.His335=)
c.896T=
c.1155T= (p.His385=)
n.657T=
n.771T=
c.963T= (p.His321=)
c.780T= (p.His260=)
1g.77933426A>CCA340877083NEXNc.1198A>C (p.Lys400Gln)
c.1006A>C (p.Lys336Gln)
c.897A>C
c.1156A>C (p.Lys386Gln)
n.658A>C
n.772A>C
c.964A>C (p.Lys322Gln)
c.781A>C (p.Lys261Gln)
1g.77933426A>GCA340877085NEXNc.1198A>G (p.Lys400Glu)
c.1006A>G (p.Lys336Glu)
c.897A>G
c.1156A>G (p.Lys386Glu)
n.658A>G
n.772A>G
c.964A>G (p.Lys322Glu)
c.781A>G (p.Lys261Glu)
 gnomAD v4
1g.77933426A>TCA340877086NEXNc.1198A>T (p.Lys400Ter)
c.1006A>T (p.Lys336Ter)
c.897A>T
c.1156A>T (p.Lys386Ter)
n.658A>T
n.772A>T
c.964A>T (p.Lys322Ter)
c.781A>T (p.Lys261Ter)
1g.77933427A=CA1177626761NEXNc.1199A= (p.Lys400=)
c.1007A= (p.Lys336=)
c.898A=
c.1157A= (p.Lys386=)
n.659A=
n.773A=
c.965A= (p.Lys322=)
c.782A= (p.Lys261=)
1g.77933427A>CCA340877087NEXNc.1199A>C (p.Lys400Thr)
c.1007A>C (p.Lys336Thr)
c.898A>C
c.1157A>C (p.Lys386Thr)
n.659A>C
n.773A>C
c.965A>C (p.Lys322Thr)
c.782A>C (p.Lys261Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77933427A>GCA24684308NEXNc.1199A>G (p.Lys400Arg)
c.1007A>G (p.Lys336Arg)
c.898A>G
c.1157A>G (p.Lys386Arg)
n.659A>G
n.773A>G
c.965A>G (p.Lys322Arg)
c.782A>G (p.Lys261Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933427A>TCA340877090NEXNc.1199A>T (p.Lys400Met)
c.1007A>T (p.Lys336Met)
c.898A>T
c.1157A>T (p.Lys386Met)
n.659A>T
n.773A>T
c.965A>T (p.Lys322Met)
c.782A>T (p.Lys261Met)
1g.77933428G>ACA418572110NEXNc.1200G>A (p.Lys400=)
c.1008G>A (p.Lys336=)
c.899G>A
c.1158G>A (p.Lys386=)
n.660G>A
n.774G>A
c.966G>A (p.Lys322=)
c.783G>A (p.Lys261=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77933428G>CCA918818NEXNc.1200G>C (p.Lys400Asn)
c.1008G>C (p.Lys336Asn)
c.899G>C
c.1158G>C (p.Lys386Asn)
n.660G>C
n.774G>C
c.966G>C (p.Lys322Asn)
c.783G>C (p.Lys261Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933428G=CA1177626763NEXNc.1200G= (p.Lys400=)
c.1008G= (p.Lys336=)
c.899G=
c.1158G= (p.Lys386=)
n.660G=
n.774G=
c.966G= (p.Lys322=)
c.783G= (p.Lys261=)
1g.77933428G>TCA340877092NEXNc.1200G>T (p.Lys400Asn)
c.1008G>T (p.Lys336Asn)
c.899G>T
c.1158G>T (p.Lys386Asn)
n.660G>T
n.774G>T
c.966G>T (p.Lys322Asn)
c.783G>T (p.Lys261Asn)
1g.77933429C>ACA340877093NEXNc.1201C>A (p.Leu401Ile)
c.1009C>A (p.Leu337Ile)
c.900C>A
c.1159C>A (p.Leu387Ile)
n.661C>A
n.775C>A
c.967C>A (p.Leu323Ile)
c.784C>A (p.Leu262Ile)
1g.77933429C>GCA340877095NEXNc.1201C>G (p.Leu401Val)
c.1009C>G (p.Leu337Val)
c.900C>G
c.1159C>G (p.Leu387Val)
n.661C>G
n.775C>G
c.967C>G (p.Leu323Val)
c.784C>G (p.Leu262Val)
 ClinVar
1g.77933429C>TCA418572111NEXNc.1201C>T (p.Leu401=)
c.1009C>T (p.Leu337=)
c.900C>T
c.1159C>T (p.Leu387=)
n.661C>T
n.775C>T
c.967C>T (p.Leu323=)
c.784C>T (p.Leu262=)
1g.77933430T>ACA340877096NEXNc.1202T>A (p.Leu401Gln)
c.1010T>A (p.Leu337Gln)
c.901T>A
c.1160T>A (p.Leu387Gln)
n.662T>A
n.776T>A
c.968T>A (p.Leu323Gln)
c.785T>A (p.Leu262Gln)
1g.77933430T>CCA340877097NEXNc.1202T>C (p.Leu401Pro)
c.1010T>C (p.Leu337Pro)
c.901T>C
c.1160T>C (p.Leu387Pro)
n.662T>C
n.776T>C
c.968T>C (p.Leu323Pro)
c.785T>C (p.Leu262Pro)
 ClinVar
1g.77933430T>GCA340877099NEXNc.1202T>G (p.Leu401Arg)
c.1010T>G (p.Leu337Arg)
c.901T>G
c.1160T>G (p.Leu387Arg)
n.662T>G
n.776T>G
c.968T>G (p.Leu323Arg)
c.785T>G (p.Leu262Arg)
1g.77933430_77933431insGGTTACA2744232065NEXNc.1202_1203insGGTTA (p.Glu402ValfsTer12)
c.1010_1011insGGTTA (p.Glu338ValfsTer12)
c.901_902insGGTTA
c.1160_1161insGGTTA (p.Glu388ValfsTer12)
n.662_663insGGTTA
n.776_777insGGTTA
c.968_969insGGTTA (p.Glu324ValfsTer12)
c.785_786insGGTTA (p.Glu263ValfsTer12)
1g.77933431A=CA1177626764NEXNc.1203A= (p.Leu401=)
c.1011A= (p.Leu337=)
c.902A=
c.1161A= (p.Leu387=)
n.663A=
n.777A=
c.969A= (p.Leu323=)
c.786A= (p.Leu262=)
1g.77933431A>CCA418572113NEXNc.1203A>C (p.Leu401=)
c.1011A>C (p.Leu337=)
c.902A>C
c.1161A>C (p.Leu387=)
n.663A>C
n.777A>C
c.969A>C (p.Leu323=)
c.786A>C (p.Leu262=)
1g.77933431A>GCA918819NEXNc.1203A>G (p.Leu401=)
c.1011A>G (p.Leu337=)
c.902A>G
c.1161A>G (p.Leu387=)
n.663A>G
n.777A>G
c.969A>G (p.Leu323=)
c.786A>G (p.Leu262=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933431A>TCA418572112NEXNc.1203A>T (p.Leu401=)
c.1011A>T (p.Leu337=)
c.902A>T
c.1161A>T (p.Leu387=)
n.663A>T
n.777A>T
c.969A>T (p.Leu323=)
c.786A>T (p.Leu262=)
1g.77933432G>ACA340877102NEXNc.1204G>A (p.Glu402Lys)
c.1012G>A (p.Glu338Lys)
c.903G>A
c.1162G>A (p.Glu388Lys)
n.664G>A
n.778G>A
c.970G>A (p.Glu324Lys)
c.787G>A (p.Glu263Lys)
 COSMIC
1g.77933432G>CCA340877104NEXNc.1204G>C (p.Glu402Gln)
c.1012G>C (p.Glu338Gln)
c.903G>C
c.1162G>C (p.Glu388Gln)
n.664G>C
n.778G>C
c.970G>C (p.Glu324Gln)
c.787G>C (p.Glu263Gln)
1g.77933432G>TCA340877105NEXNc.1204G>T (p.Glu402Ter)
c.1012G>T (p.Glu338Ter)
c.903G>T
c.1162G>T (p.Glu388Ter)
n.664G>T
n.778G>T
c.970G>T (p.Glu324Ter)
c.787G>T (p.Glu263Ter)
1g.77933433A>CCA340877107NEXNc.1205A>C (p.Glu402Ala)
c.1013A>C (p.Glu338Ala)
c.904A>C
c.1163A>C (p.Glu388Ala)
n.665A>C
n.779A>C
c.971A>C (p.Glu324Ala)
c.788A>C (p.Glu263Ala)
1g.77933433A>GCA340877109NEXNc.1205A>G (p.Glu402Gly)
c.1013A>G (p.Glu338Gly)
c.904A>G
c.1163A>G (p.Glu388Gly)
n.665A>G
n.779A>G
c.971A>G (p.Glu324Gly)
c.788A>G (p.Glu263Gly)
1g.77933433A>TCA340877110NEXNc.1205A>T (p.Glu402Val)
c.1013A>T (p.Glu338Val)
c.904A>T
c.1163A>T (p.Glu388Val)
n.665A>T
n.779A>T
c.971A>T (p.Glu324Val)
c.788A>T (p.Glu263Val)
1g.77933434A=CA1177626765NEXNc.1206A= (p.Glu402=)
c.1014A= (p.Glu338=)
c.905A=
c.1164A= (p.Glu388=)
n.666A=
n.780A=
c.972A= (p.Glu324=)
c.789A= (p.Glu263=)
1g.77933434A>CCA340877112NEXNc.1206A>C (p.Glu402Asp)
c.1014A>C (p.Glu338Asp)
c.905A>C
c.1164A>C (p.Glu388Asp)
n.666A>C
n.780A>C
c.972A>C (p.Glu324Asp)
c.789A>C (p.Glu263Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.77933434A>GCA418572114NEXNc.1206A>G (p.Glu402=)
c.1014A>G (p.Glu338=)
c.905A>G
c.1164A>G (p.Glu388=)
n.666A>G
n.780A>G
c.972A>G (p.Glu324=)
c.789A>G (p.Glu263=)
1g.77933434A>TCA340877113NEXNc.1206A>T (p.Glu402Asp)
c.1014A>T (p.Glu338Asp)
c.905A>T
c.1164A>T (p.Glu388Asp)
n.666A>T
n.780A>T
c.972A>T (p.Glu324Asp)
c.789A>T (p.Glu263Asp)
1g.77933435_77933439dupCA2574414091NEXNc.1207_1211dup (p.Lys405TrpfsTer9)
c.1015_1019dup (p.Lys341TrpfsTer9)
c.906_910dup
c.1165_1169dup (p.Lys391TrpfsTer9)
n.667_671dup
n.781_785dup
c.973_977dup (p.Lys327TrpfsTer9)
c.790_794dup (p.Lys266TrpfsTer9)
1g.77933435A>CCA340877115NEXNc.1207A>C (p.Met403Leu)
c.1015A>C (p.Met339Leu)
c.906A>C
c.1165A>C (p.Met389Leu)
n.667A>C
n.781A>C
c.973A>C (p.Met325Leu)
c.790A>C (p.Met264Leu)
1g.77933435A>GCA340877117NEXNc.1207A>G (p.Met403Val)
c.1015A>G (p.Met339Val)
c.906A>G
c.1165A>G (p.Met389Val)
n.667A>G
n.781A>G
c.973A>G (p.Met325Val)
c.790A>G (p.Met264Val)
1g.77933435A>TCA340877118NEXNc.1207A>T (p.Met403Leu)
c.1015A>T (p.Met339Leu)
c.906A>T
c.1165A>T (p.Met389Leu)
n.667A>T
n.781A>T
c.973A>T (p.Met325Leu)
c.790A>T (p.Met264Leu)
1g.77933436T>ACA340877120NEXNc.1208T>A (p.Met403Lys)
c.1016T>A (p.Met339Lys)
c.907T>A
c.1166T>A (p.Met389Lys)
n.668T>A
n.782T>A
c.974T>A (p.Met325Lys)
c.791T>A (p.Met264Lys)
1g.77933436T>CCA340877122NEXNc.1208T>C (p.Met403Thr)
c.1016T>C (p.Met339Thr)
c.907T>C
c.1166T>C (p.Met389Thr)
n.668T>C
n.782T>C
c.974T>C (p.Met325Thr)
c.791T>C (p.Met264Thr)
1g.77933436T>GCA340877124NEXNc.1208T>G (p.Met403Arg)
c.1016T>G (p.Met339Arg)
c.907T>G
c.1166T>G (p.Met389Arg)
n.668T>G
n.782T>G
c.974T>G (p.Met325Arg)
c.791T>G (p.Met264Arg)
1g.77933437G>ACA340877125NEXNc.1209G>A (p.Met403Ile)
c.1017G>A (p.Met339Ile)
c.908G>A
c.1167G>A (p.Met389Ile)
n.669G>A
n.783G>A
c.975G>A (p.Met325Ile)
c.792G>A (p.Met264Ile)
1g.77933437G>CCA340877126NEXNc.1209G>C (p.Met403Ile)
c.1017G>C (p.Met339Ile)
c.908G>C
c.1167G>C (p.Met389Ile)
n.669G>C
n.783G>C
c.975G>C (p.Met325Ile)
c.792G>C (p.Met264Ile)
1g.77933437G>TCA340877128NEXNc.1209G>T (p.Met403Ile)
c.1017G>T (p.Met339Ile)
c.908G>T
c.1167G>T (p.Met389Ile)
n.669G>T
n.783G>T
c.975G>T (p.Met325Ile)
c.792G>T (p.Met264Ile)
1g.77933438G>ACA340877130NEXNc.1210G>A (p.Glu404Lys)
c.1018G>A (p.Glu340Lys)
c.909G>A
c.1168G>A (p.Glu390Lys)
n.670G>A
n.784G>A
c.976G>A (p.Glu326Lys)
c.793G>A (p.Glu265Lys)
1g.77933438G>CCA340877132NEXNc.1210G>C (p.Glu404Gln)
c.1018G>C (p.Glu340Gln)
c.909G>C
c.1168G>C (p.Glu390Gln)
n.670G>C
n.784G>C
c.976G>C (p.Glu326Gln)
c.793G>C (p.Glu265Gln)
 gnomAD v4
1g.77933438G>TCA340877133NEXNc.1210G>T (p.Glu404Ter)
c.1018G>T (p.Glu340Ter)
c.909G>T
c.1168G>T (p.Glu390Ter)
n.670G>T
n.784G>T
c.976G>T (p.Glu326Ter)
c.793G>T (p.Glu265Ter)
1g.77933438_77933445delinsGAGAAACACA1177626766NEXNc.1210_1217delinsGAGAAACA (p.Glu404=)
c.1018_1025delinsGAGAAACA (p.Glu340=)
c.909_916delinsGAGAAACA
c.1168_1175delinsGAGAAACA (p.Glu390=)
n.670_677delinsGAGAAACA
n.784_791delinsGAGAAACA
c.976_983delinsGAGAAACA (p.Glu326=)
c.793_800delinsGAGAAACA (p.Glu265=)
1g.77933439A>CCA340877138NEXNc.1211A>C (p.Glu404Ala)
c.1019A>C (p.Glu340Ala)
c.910A>C
c.1169A>C (p.Glu390Ala)
n.671A>C
n.785A>C
c.977A>C (p.Glu326Ala)
c.794A>C (p.Glu265Ala)
1g.77933439A>GCA340877137NEXNc.1211A>G (p.Glu404Gly)
c.1019A>G (p.Glu340Gly)
c.910A>G
c.1169A>G (p.Glu390Gly)
n.671A>G
n.785A>G
c.977A>G (p.Glu326Gly)
c.794A>G (p.Glu265Gly)
1g.77933439A>TCA340877135NEXNc.1211A>T (p.Glu404Val)
c.1019A>T (p.Glu340Val)
c.910A>T
c.1169A>T (p.Glu390Val)
n.671A>T
n.785A>T
c.977A>T (p.Glu326Val)
c.794A>T (p.Glu265Val)
1g.77933443_77933449delCA918820NEXNc.1215_1221del (p.Lys405AsnfsTer5)
c.1023_1029del (p.Lys341AsnfsTer5)
c.914_920del
c.1173_1179del (p.Lys391AsnfsTer5)
n.675_681del
n.789_795del
c.981_987del (p.Lys327AsnfsTer5)
c.798_804del (p.Lys266AsnfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933440G>ACA418572115NEXNc.1212G>A (p.Glu404=)
c.1020G>A (p.Glu340=)
c.911G>A
c.1170G>A (p.Glu390=)
n.672G>A
n.786G>A
c.978G>A (p.Glu326=)
c.795G>A (p.Glu265=)
1g.77933440G>CCA340877140NEXNc.1212G>C (p.Glu404Asp)
c.1020G>C (p.Glu340Asp)
c.911G>C
c.1170G>C (p.Glu390Asp)
n.672G>C
n.786G>C
c.978G>C (p.Glu326Asp)
c.795G>C (p.Glu265Asp)
1g.77933440G>TCA340877141NEXNc.1212G>T (p.Glu404Asp)
c.1020G>T (p.Glu340Asp)
c.911G>T
c.1170G>T (p.Glu390Asp)
n.672G>T
n.786G>T
c.978G>T (p.Glu326Asp)
c.795G>T (p.Glu265Asp)
1g.77933441A>CCA340877143NEXNc.1213A>C (p.Lys405Gln)
c.1021A>C (p.Lys341Gln)
c.912A>C
c.1171A>C (p.Lys391Gln)
n.673A>C
n.787A>C
c.979A>C (p.Lys327Gln)
c.796A>C (p.Lys266Gln)
1g.77933441A>GCA340877145NEXNc.1213A>G (p.Lys405Glu)
c.1021A>G (p.Lys341Glu)
c.912A>G
c.1171A>G (p.Lys391Glu)
n.673A>G
n.787A>G
c.979A>G (p.Lys327Glu)
c.796A>G (p.Lys266Glu)
1g.77933441A>TCA340877146NEXNc.1213A>T (p.Lys405Ter)
c.1021A>T (p.Lys341Ter)
c.912A>T
c.1171A>T (p.Lys391Ter)
n.673A>T
n.787A>T
c.979A>T (p.Lys327Ter)
c.796A>T (p.Lys266Ter)
 gnomAD v4
1g.77933442A>CCA340877148NEXNc.1214A>C (p.Lys405Thr)
c.1022A>C (p.Lys341Thr)
c.913A>C
c.1172A>C (p.Lys391Thr)
n.674A>C
n.788A>C
c.980A>C (p.Lys327Thr)
c.797A>C (p.Lys266Thr)
1g.77933442A>GCA340877150NEXNc.1214A>G (p.Lys405Arg)
c.1022A>G (p.Lys341Arg)
c.913A>G
c.1172A>G (p.Lys391Arg)
n.674A>G
n.788A>G
c.980A>G (p.Lys327Arg)
c.797A>G (p.Lys266Arg)
1g.77933442A>TCA340877151NEXNc.1214A>T (p.Lys405Ile)
c.1022A>T (p.Lys341Ile)
c.913A>T
c.1172A>T (p.Lys391Ile)
n.674A>T
n.788A>T
c.980A>T (p.Lys327Ile)
c.797A>T (p.Lys266Ile)
1g.77933443A>CCA340877153NEXNc.1215A>C (p.Lys405Asn)
c.1023A>C (p.Lys341Asn)
c.914A>C
c.1173A>C (p.Lys391Asn)
n.675A>C
n.789A>C
c.981A>C (p.Lys327Asn)
c.798A>C (p.Lys266Asn)
1g.77933443A>GCA418572117NEXNc.1215A>G (p.Lys405=)
c.1023A>G (p.Lys341=)
c.914A>G
c.1173A>G (p.Lys391=)
n.675A>G
n.789A>G
c.981A>G (p.Lys327=)
c.798A>G (p.Lys266=)
1g.77933443A>TCA340877154NEXNc.1215A>T (p.Lys405Asn)
c.1023A>T (p.Lys341Asn)
c.914A>T
c.1173A>T (p.Lys391Asn)
n.675A>T
n.789A>T
c.981A>T (p.Lys327Asn)
c.798A>T (p.Lys266Asn)
1g.77933444C>ACA340877157NEXNc.1216C>A (p.Gln406Lys)
c.1024C>A (p.Gln342Lys)
c.915C>A
c.1174C>A (p.Gln392Lys)
n.676C>A
n.790C>A
c.982C>A (p.Gln328Lys)
c.799C>A (p.Gln267Lys)
1g.77933444C=CA1177626769NEXNc.1216C= (p.Gln406=)
c.1024C= (p.Gln342=)
c.915C=
c.1174C= (p.Gln392=)
n.676C=
n.790C=
c.982C= (p.Gln328=)
c.799C= (p.Gln267=)
1g.77933444C>GCA340877158NEXNc.1216C>G (p.Gln406Glu)
c.1024C>G (p.Gln342Glu)
c.915C>G
c.1174C>G (p.Gln392Glu)
n.676C>G
n.790C>G
c.982C>G (p.Gln328Glu)
c.799C>G (p.Gln267Glu)
1g.77933444C>TCA340877159NEXNc.1216C>T (p.Gln406Ter)
c.1024C>T (p.Gln342Ter)
c.915C>T
c.1174C>T (p.Gln392Ter)
n.676C>T
n.790C>T
c.982C>T (p.Gln328Ter)
c.799C>T (p.Gln267Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.77933444_77933447delinsCAAGCA1177626768NEXNc.1216_1219delinsCAAG (p.Gln406=)
c.1024_1027delinsCAAG (p.Gln342=)
c.915_918delinsCAAG
c.1174_1177delinsCAAG (p.Gln392=)
n.676_679delinsCAAG
n.790_793delinsCAAG
c.982_985delinsCAAG (p.Gln328=)
c.799_802delinsCAAG (p.Gln267=)
1g.77933445A>CCA340877162NEXNc.1217A>C (p.Gln406Pro)
c.1025A>C (p.Gln342Pro)
c.916A>C
c.1175A>C (p.Gln392Pro)
n.677A>C
n.791A>C
c.983A>C (p.Gln328Pro)
c.800A>C (p.Gln267Pro)
1g.77933445A>GCA340877163NEXNc.1217A>G (p.Gln406Arg)
c.1025A>G (p.Gln342Arg)
c.916A>G
c.1175A>G (p.Gln392Arg)
n.677A>G
n.791A>G
c.983A>G (p.Gln328Arg)
c.800A>G (p.Gln267Arg)
 gnomAD v4
1g.77933445A>TCA340877164NEXNc.1217A>T (p.Gln406Leu)
c.1025A>T (p.Gln342Leu)
c.916A>T
c.1175A>T (p.Gln392Leu)
n.677A>T
n.791A>T
c.983A>T (p.Gln328Leu)
c.800A>T (p.Gln267Leu)
 gnomAD v4
1g.77933447_77933449delCA918821NEXNc.1219_1221del (p.Glu407del)
c.1027_1029del (p.Glu343del)
c.918_920del
c.1177_1179del (p.Glu393del)
n.679_681del
n.793_795del
c.985_987del (p.Glu329del)
c.802_804del (p.Glu268del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933446A=CA1177626772NEXNc.1218A= (p.Gln406=)
c.1026A= (p.Gln342=)
c.917A=
c.1176A= (p.Gln392=)
n.678A=
n.792A=
c.984A= (p.Gln328=)
c.801A= (p.Gln267=)
1g.77933446A>CCA918822NEXNc.1218A>C (p.Gln406His)
c.1026A>C (p.Gln342His)
c.917A>C
c.1176A>C (p.Gln392His)
n.678A>C
n.792A>C
c.984A>C (p.Gln328His)
c.801A>C (p.Gln267His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933446A>GCA418572119NEXNc.1218A>G (p.Gln406=)
c.1026A>G (p.Gln342=)
c.917A>G
c.1176A>G (p.Gln392=)
n.678A>G
n.792A>G
c.984A>G (p.Gln328=)
c.801A>G (p.Gln267=)
 dbSNP gnomAD v4
1g.77933446A>TCA340877167NEXNc.1218A>T (p.Gln406His)
c.1026A>T (p.Gln342His)
c.917A>T
c.1176A>T (p.Gln392His)
n.678A>T
n.792A>T
c.984A>T (p.Gln328His)
c.801A>T (p.Gln267His)
1g.77933447G>ACA340877169NEXNc.1219G>A (p.Glu407Lys)
c.1027G>A (p.Glu343Lys)
c.918G>A
c.1177G>A (p.Glu393Lys)
n.679G>A
n.793G>A
c.985G>A (p.Glu329Lys)
c.802G>A (p.Glu268Lys)
1g.77933447G>CCA340877170NEXNc.1219G>C (p.Glu407Gln)
c.1027G>C (p.Glu343Gln)
c.918G>C
c.1177G>C (p.Glu393Gln)
n.679G>C
n.793G>C
c.985G>C (p.Glu329Gln)
c.802G>C (p.Glu268Gln)
1g.77933447G>TCA340877172NEXNc.1219G>T (p.Glu407Ter)
c.1027G>T (p.Glu343Ter)
c.918G>T
c.1177G>T (p.Glu393Ter)
n.679G>T
n.793G>T
c.985G>T (p.Glu329Ter)
c.802G>T (p.Glu268Ter)
 gnomAD v4
1g.77933448A>CCA340877174NEXNc.1220A>C (p.Glu407Ala)
c.1028A>C (p.Glu343Ala)
c.919A>C
c.1178A>C (p.Glu393Ala)
n.680A>C
n.794A>C
c.986A>C (p.Glu329Ala)
c.803A>C (p.Glu268Ala)
1g.77933448A>GCA340877176NEXNc.1220A>G (p.Glu407Gly)
c.1028A>G (p.Glu343Gly)
c.919A>G
c.1178A>G (p.Glu393Gly)
n.680A>G
n.794A>G
c.986A>G (p.Glu329Gly)
c.803A>G (p.Glu268Gly)
 gnomAD v4
1g.77933448A>TCA340877177NEXNc.1220A>T (p.Glu407Val)
c.1028A>T (p.Glu343Val)
c.919A>T
c.1178A>T (p.Glu393Val)
n.680A>T
n.794A>T
c.986A>T (p.Glu329Val)
c.803A>T (p.Glu268Val)
1g.77933449A>CCA340877179NEXNc.1221A>C (p.Glu407Asp)
c.1029A>C (p.Glu343Asp)
c.920A>C
c.1179A>C (p.Glu393Asp)
n.681A>C
n.795A>C
c.987A>C (p.Glu329Asp)
c.804A>C (p.Glu268Asp)
1g.77933449A>GCA418572120NEXNc.1221A>G (p.Glu407=)
c.1029A>G (p.Glu343=)
c.920A>G
c.1179A>G (p.Glu393=)
n.681A>G
n.795A>G
c.987A>G (p.Glu329=)
c.804A>G (p.Glu268=)
1g.77933449A>TCA340877181NEXNc.1221A>T (p.Glu407Asp)
c.1029A>T (p.Glu343Asp)
c.920A>T
c.1179A>T (p.Glu393Asp)
n.681A>T
n.795A>T
c.987A>T (p.Glu329Asp)
c.804A>T (p.Glu268Asp)
1g.77933450T>ACA340877184NEXNc.1222T>A (p.Phe408Ile)
c.1030T>A (p.Phe344Ile)
c.921T>A
c.1180T>A (p.Phe394Ile)
n.682T>A
n.796T>A
c.988T>A (p.Phe330Ile)
c.805T>A (p.Phe269Ile)
1g.77933450T>CCA335409NEXNc.1222T>C (p.Phe408Leu)
c.1030T>C (p.Phe344Leu)
c.921T>C
c.1180T>C (p.Phe394Leu)
n.682T>C
n.796T>C
c.988T>C (p.Phe330Leu)
c.805T>C (p.Phe269Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77933450T>GCA340877183NEXNc.1222T>G (p.Phe408Val)
c.1030T>G (p.Phe344Val)
c.921T>G
c.1180T>G (p.Phe394Val)
n.682T>G
n.796T>G
c.988T>G (p.Phe330Val)
c.805T>G (p.Phe269Val)
1g.77933450T=CA1177626774NEXNc.1222T= (p.Phe408=)
c.1030T= (p.Phe344=)
c.921T=
c.1180T= (p.Phe394=)
n.682T=
n.796T=
c.988T= (p.Phe330=)
c.805T= (p.Phe269=)
1g.77933452_77933453insCTTTTTTTTCA2646274523NEXNc.1224_1225insCTTTTTTTT (p.Phe408_Glu409insLeuPhePhe)
c.1032_1033insCTTTTTTTT (p.Phe344_Glu345insLeuPhePhe)
c.923_924insCTTTTTTTT
c.1182_1183insCTTTTTTTT (p.Phe394_Glu395insLeuPhePhe)
n.684_685insCTTTTTTTT
n.798_799insCTTTTTTTT
c.990_991insCTTTTTTTT (p.Phe330_Glu331insLeuPhePhe)
c.807_808insCTTTTTTTT (p.Phe269_Glu270insLeuPhePhe)
 gnomAD v4
1g.77933451T>ACA340877187NEXNc.1223T>A (p.Phe408Tyr)
c.1031T>A (p.Phe344Tyr)
c.922T>A
c.1181T>A (p.Phe394Tyr)
n.683T>A
n.797T>A
c.989T>A (p.Phe330Tyr)
c.806T>A (p.Phe269Tyr)
1g.77933451T>CCA340877188NEXNc.1223T>C (p.Phe408Ser)
c.1031T>C (p.Phe344Ser)
c.922T>C
c.1181T>C (p.Phe394Ser)
n.683T>C
n.797T>C
c.989T>C (p.Phe330Ser)
c.806T>C (p.Phe269Ser)
 gnomAD v4
1g.77933451T>GCA918823NEXNc.1223T>G (p.Phe408Cys)
c.1031T>G (p.Phe344Cys)
c.922T>G
c.1181T>G (p.Phe394Cys)
n.683T>G
n.797T>G
c.989T>G (p.Phe330Cys)
c.806T>G (p.Phe269Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933451T=CA1143552818NEXNc.1223T= (p.Phe408=)
c.1031T= (p.Phe344=)
c.922T=
c.1181T= (p.Phe394=)
n.683T=
n.797T=
c.989T= (p.Phe330=)
c.806T= (p.Phe269=)
1g.77933452T>ACA340877190NEXNc.1224T>A (p.Phe408Leu)
c.1032T>A (p.Phe344Leu)
c.923T>A
c.1182T>A (p.Phe394Leu)
n.684T>A
n.798T>A
c.990T>A (p.Phe330Leu)
c.807T>A (p.Phe269Leu)
1g.77933452T>CCA418572121NEXNc.1224T>C (p.Phe408=)
c.1032T>C (p.Phe344=)
c.923T>C
c.1182T>C (p.Phe394=)
n.684T>C
n.798T>C
c.990T>C (p.Phe330=)
c.807T>C (p.Phe269=)
 gnomAD v4
1g.77933452T>GCA340877191NEXNc.1224T>G (p.Phe408Leu)
c.1032T>G (p.Phe344Leu)
c.923T>G
c.1182T>G (p.Phe394Leu)
n.684T>G
n.798T>G
c.990T>G (p.Phe330Leu)
c.807T>G (p.Phe269Leu)
1g.77933453G>ACA340877193NEXNc.1225G>A (p.Glu409Lys)
c.1033G>A (p.Glu345Lys)
c.924G>A
c.1183G>A (p.Glu395Lys)
n.685G>A
n.799G>A
c.991G>A (p.Glu331Lys)
c.808G>A (p.Glu270Lys)
 gnomAD v4
1g.77933453G>CCA918824NEXNc.1225G>C (p.Glu409Gln)
c.1033G>C (p.Glu345Gln)
c.924G>C
c.1183G>C (p.Glu395Gln)
n.685G>C
n.799G>C
c.991G>C (p.Glu331Gln)
c.808G>C (p.Glu270Gln)
 dbSNP ExAC gnomAD v2
1g.77933453G=CA1177626777NEXNc.1225G= (p.Glu409=)
c.1033G= (p.Glu345=)
c.924G=
c.1183G= (p.Glu395=)
n.685G=
n.799G=
c.991G= (p.Glu331=)
c.808G= (p.Glu270=)
1g.77933453G>TCA340877197NEXNc.1225G>T (p.Glu409Ter)
c.1033G>T (p.Glu345Ter)
c.924G>T
c.1183G>T (p.Glu395Ter)
n.685G>T
n.799G>T
c.991G>T (p.Glu331Ter)
c.808G>T (p.Glu270Ter)
 gnomAD v4
1g.77933454A=CA1177626779NEXNc.1226A= (p.Glu409=)
c.1034A= (p.Glu345=)
c.925A=
c.1184A= (p.Glu395=)
n.686A=
n.800A=
c.992A= (p.Glu331=)
c.809A= (p.Glu270=)
1g.77933454A>CCA918825NEXNc.1226A>C (p.Glu409Ala)
c.1034A>C (p.Glu345Ala)
c.925A>C
c.1184A>C (p.Glu395Ala)
n.686A>C
n.800A>C
c.992A>C (p.Glu331Ala)
c.809A>C (p.Glu270Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933454A>GCA340877198NEXNc.1226A>G (p.Glu409Gly)
c.1034A>G (p.Glu345Gly)
c.925A>G
c.1184A>G (p.Glu395Gly)
n.686A>G
n.800A>G
c.992A>G (p.Glu331Gly)
c.809A>G (p.Glu270Gly)
1g.77933454A>TCA340877200NEXNc.1226A>T (p.Glu409Val)
c.1034A>T (p.Glu345Val)
c.925A>T
c.1184A>T (p.Glu395Val)
n.686A>T
n.800A>T
c.992A>T (p.Glu331Val)
c.809A>T (p.Glu270Val)
 dbSNP gnomAD v2 gnomAD v4
1g.77933457_77933459delCA2574414092NEXNc.1229_1231del (p.Gln410del)
c.1037_1039del (p.Gln346del)
c.928_930del
c.1187_1189del (p.Gln396del)
n.689_691del
n.803_805del
c.995_997del (p.Gln332del)
c.812_814del (p.Gln271del)
1g.77933455A=CA1149070552NEXNc.1227A= (p.Glu409=)
c.1035A= (p.Glu345=)
c.926A=
c.1185A= (p.Glu395=)
n.687A=
n.801A=
c.993A= (p.Glu331=)
c.810A= (p.Glu270=)
1g.77933455A>CCA340877202NEXNc.1227A>C (p.Glu409Asp)
c.1035A>C (p.Glu345Asp)
c.926A>C
c.1185A>C (p.Glu395Asp)
n.687A>C
n.801A>C
c.993A>C (p.Glu331Asp)
c.810A>C (p.Glu270Asp)
1g.77933455A>GCA418572122NEXNc.1227A>G (p.Glu409=)
c.1035A>G (p.Glu345=)
c.926A>G
c.1185A>G (p.Glu395=)
n.687A>G
n.801A>G
c.993A>G (p.Glu331=)
c.810A>G (p.Glu270=)
1g.77933455A>TCA918826NEXNc.1227A>T (p.Glu409Asp)
c.1035A>T (p.Glu345Asp)
c.926A>T
c.1185A>T (p.Glu395Asp)
n.687A>T
n.801A>T
c.993A>T (p.Glu331Asp)
c.810A>T (p.Glu270Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77933456C>ACA340877206NEXNc.1228C>A (p.Gln410Lys)
c.1036C>A (p.Gln346Lys)
c.927C>A
c.1186C>A (p.Gln396Lys)
n.688C>A
n.802C>A
c.994C>A (p.Gln332Lys)
c.811C>A (p.Gln271Lys)
 gnomAD v4
1g.77933456C=CA1177626786NEXNc.1228C= (p.Gln410=)
c.1036C= (p.Gln346=)
c.927C=
c.1186C= (p.Gln396=)
n.688C=
n.802C=
c.994C= (p.Gln332=)
c.811C= (p.Gln271=)
1g.77933456C>GCA340877208NEXNc.1228C>G (p.Gln410Glu)
c.1036C>G (p.Gln346Glu)
c.927C>G
c.1186C>G (p.Gln396Glu)
n.688C>G
n.802C>G
c.994C>G (p.Gln332Glu)
c.811C>G (p.Gln271Glu)
 dbSNP
1g.77933456C>TCA340877204NEXNc.1228C>T (p.Gln410Ter)
c.1036C>T (p.Gln346Ter)
c.927C>T
c.1186C>T (p.Gln396Ter)
n.688C>T
n.802C>T
c.994C>T (p.Gln332Ter)
c.811C>T (p.Gln271Ter)
 ClinVar dbSNP gnomAD v4
1g.77933457A>CCA340877211NEXNc.1229A>C (p.Gln410Pro)
c.1037A>C (p.Gln346Pro)
c.928A>C
c.1187A>C (p.Gln396Pro)
n.689A>C
n.803A>C
c.995A>C (p.Gln332Pro)
c.812A>C (p.Gln271Pro)
1g.77933457A>GCA340877209NEXNc.1229A>G (p.Gln410Arg)
c.1037A>G (p.Gln346Arg)
c.928A>G
c.1187A>G (p.Gln396Arg)
n.689A>G
n.803A>G
c.995A>G (p.Gln332Arg)
c.812A>G (p.Gln271Arg)
1g.77933457A>TCA340877212NEXNc.1229A>T (p.Gln410Leu)
c.1037A>T (p.Gln346Leu)
c.928A>T
c.1187A>T (p.Gln396Leu)
n.689A>T
n.803A>T
c.995A>T (p.Gln332Leu)
c.812A>T (p.Gln271Leu)
1g.77933458A>CCA340877214NEXNc.1230A>C (p.Gln410His)
c.1038A>C (p.Gln346His)
c.929A>C
c.1188A>C (p.Gln396His)
n.690A>C
n.804A>C
c.996A>C (p.Gln332His)
c.813A>C (p.Gln271His)
1g.77933458A>GCA418572123NEXNc.1230A>G (p.Gln410=)
c.1038A>G (p.Gln346=)
c.929A>G
c.1188A>G (p.Gln396=)
n.690A>G
n.804A>G
c.996A>G (p.Gln332=)
c.813A>G (p.Gln271=)
1g.77933458A>TCA340877215NEXNc.1230A>T (p.Gln410His)
c.1038A>T (p.Gln346His)
c.929A>T
c.1188A>T (p.Gln396His)
n.690A>T
n.804A>T
c.996A>T (p.Gln332His)
c.813A>T (p.Gln271His)
1g.77933459C>ACA340877217NEXNc.1231C>A (p.Leu411Met)
c.1039C>A (p.Leu347Met)
c.930C>A
c.1189C>A (p.Leu397Met)
n.691C>A
n.805C>A
c.997C>A (p.Leu333Met)
c.814C>A (p.Leu272Met)
 gnomAD v4
1g.77933459C=CA1177626789NEXNc.1231C= (p.Leu411=)
c.1039C= (p.Leu347=)
c.930C=
c.1189C= (p.Leu397=)
n.691C=
n.805C=
c.997C= (p.Leu333=)
c.814C= (p.Leu272=)
1g.77933459C>GCA340877218NEXNc.1231C>G (p.Leu411Val)
c.1039C>G (p.Leu347Val)
c.930C>G
c.1189C>G (p.Leu397Val)
n.691C>G
n.805C>G
c.997C>G (p.Leu333Val)
c.814C>G (p.Leu272Val)
1g.77933459C>TCA418572124NEXNc.1231C>T (p.Leu411=)
c.1039C>T (p.Leu347=)
c.930C>T
c.1189C>T (p.Leu397=)
n.691C>T
n.805C>T
c.997C>T (p.Leu333=)
c.814C>T (p.Leu272=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77933460T>ACA340877220NEXNc.1232T>A (p.Leu411Gln)
c.1040T>A (p.Leu347Gln)
c.931T>A
c.1190T>A (p.Leu397Gln)
n.692T>A
n.806T>A
c.998T>A (p.Leu333Gln)
c.815T>A (p.Leu272Gln)
 ClinVar dbSNP
1g.77933460T>CCA340877221NEXNc.1232T>C (p.Leu411Pro)
c.1040T>C (p.Leu347Pro)
c.931T>C
c.1190T>C (p.Leu397Pro)
n.692T>C
n.806T>C
c.998T>C (p.Leu333Pro)
c.815T>C (p.Leu272Pro)
1g.77933460T>GCA340877223NEXNc.1232T>G (p.Leu411Arg)
c.1040T>G (p.Leu347Arg)
c.931T>G
c.1190T>G (p.Leu397Arg)
n.692T>G
n.806T>G
c.998T>G (p.Leu333Arg)
c.815T>G (p.Leu272Arg)
1g.77933460T=CA1177626790NEXNc.1232T= (p.Leu411=)
c.1040T= (p.Leu347=)
c.931T=
c.1190T= (p.Leu397=)
n.692T=
n.806T=
c.998T= (p.Leu333=)
c.815T= (p.Leu272=)
1g.77933461G>ACA418572125NEXNc.1233G>A (p.Leu411=)
c.1041G>A (p.Leu347=)
c.932G>A
c.1191G>A (p.Leu397=)
n.693G>A
n.807G>A
c.999G>A (p.Leu333=)
c.816G>A (p.Leu272=)
1g.77933461G>CCA418572127NEXNc.1233G>C (p.Leu411=)
c.1041G>C (p.Leu347=)
c.932G>C
c.1191G>C (p.Leu397=)
n.693G>C
n.807G>C
c.999G>C (p.Leu333=)
c.816G>C (p.Leu272=)
1g.77933461G>TCA418572126NEXNc.1233G>T (p.Leu411=)
c.1041G>T (p.Leu347=)
c.932G>T
c.1191G>T (p.Leu397=)
n.693G>T
n.807G>T
c.999G>T (p.Leu333=)
c.816G>T (p.Leu272=)
1g.77933461_77933462insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGCA524231116NEXNc.1233_1234insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
c.1041_1042insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
c.932_933insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
c.1191_1192insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
n.693_694insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
n.807_808insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
c.999_1000insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
c.816_817insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG
 dbSNP gnomAD v2
1g.77933461_77933462insGCCGGGCGCGGTGGCTCCA2646274524NEXNc.1233_1234insGCCGGGCGCGGTGGCTC (p.Arg412AlafsTer22)
c.1041_1042insGCCGGGCGCGGTGGCTC (p.Arg348AlafsTer22)
c.932_933insGCCGGGCGCGGTGGCTC
c.1191_1192insGCCGGGCGCGGTGGCTC (p.Arg398AlafsTer22)
n.693_694insGCCGGGCGCGGTGGCTC
n.807_808insGCCGGGCGCGGTGGCTC
c.1233_1234insGCCGGGCGCGGTGGCTC (p.Arg412AlafsTer32)
c.999_1000insGCCGGGCGCGGTGGCTC (p.Arg334AlafsTer22)
c.816_817insGCCGGGCGCGGTGGCTC (p.Arg273AlafsTer22)
 gnomAD v4
1g.77933462A=CA1177626795NEXNc.1234A= (p.Arg412=)
c.1042A= (p.Arg348=)
c.933A=
c.1192A= (p.Arg398=)
n.694A=
n.808A=
c.1000A= (p.Arg334=)
c.817A= (p.Arg273=)
1g.77933462A>CCA418572128NEXNc.1234A>C (p.Arg412=)
c.1042A>C (p.Arg348=)
c.933A>C
c.1192A>C (p.Arg398=)
n.694A>C
n.808A>C
c.1000A>C (p.Arg334=)
c.817A>C (p.Arg273=)
1g.77933462A>GCA918827NEXNc.1234A>G (p.Arg412Gly)
c.1042A>G (p.Arg348Gly)
c.933A>G
c.1192A>G (p.Arg398Gly)
n.694A>G
n.808A>G
c.1000A>G (p.Arg334Gly)
c.817A>G (p.Arg273Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933462A>TCA340877226NEXNc.1234A>T (p.Arg412Ter)
c.1042A>T (p.Arg348Ter)
c.933A>T
c.1192A>T (p.Arg398Ter)
n.694A>T
n.808A>T
c.1000A>T (p.Arg334Ter)
c.817A>T (p.Arg273Ter)
1g.77933463G>ACA340877227NEXNc.1235G>A (p.Arg412Lys)
c.1043G>A (p.Arg348Lys)
c.934G>A
c.1193G>A (p.Arg398Lys)
n.695G>A
n.809G>A
c.1001G>A (p.Arg334Lys)
c.818G>A (p.Arg273Lys)
1g.77933463G>CCA340877229NEXNc.1235G>C (p.Arg412Thr)
c.1043G>C (p.Arg348Thr)
c.934G>C
c.1193G>C (p.Arg398Thr)
n.695G>C
n.809G>C
c.1001G>C (p.Arg334Thr)
c.818G>C (p.Arg273Thr)
1g.77933463G>TCA340877230NEXNc.1235G>T (p.Arg412Ile)
c.1043G>T (p.Arg348Ile)
c.934G>T
c.1193G>T (p.Arg398Ile)
n.695G>T
n.809G>T
c.1001G>T (p.Arg334Ile)
c.818G>T (p.Arg273Ile)
1g.77933464A>CCA340877231NEXNc.1236A>C (p.Arg412Ser)
c.1044A>C (p.Arg348Ser)
c.935A>C
c.1194A>C (p.Arg398Ser)
n.696A>C
n.810A>C
c.1002A>C (p.Arg334Ser)
c.819A>C (p.Arg273Ser)
1g.77933464A>GCA418572129NEXNc.1236A>G (p.Arg412=)
c.1044A>G (p.Arg348=)
c.935A>G
c.1194A>G (p.Arg398=)
n.696A>G
n.810A>G
c.1002A>G (p.Arg334=)
c.819A>G (p.Arg273=)
 gnomAD v4
1g.77933464A>TCA340877233NEXNc.1236A>T (p.Arg412Ser)
c.1044A>T (p.Arg348Ser)
c.935A>T
c.1194A>T (p.Arg398Ser)
n.696A>T
n.810A>T
c.1002A>T (p.Arg334Ser)
c.819A>T (p.Arg273Ser)
1g.77933465C>ACA340877234NEXNc.1237C>A (p.Gln413Lys)
c.1045C>A (p.Gln349Lys)
c.936C>A
c.1195C>A (p.Gln399Lys)
n.697C>A
n.811C>A
c.1003C>A (p.Gln335Lys)
c.820C>A (p.Gln274Lys)
 gnomAD v4
1g.77933465C>GCA340877237NEXNc.1237C>G (p.Gln413Glu)
c.1045C>G (p.Gln349Glu)
c.936C>G
c.1195C>G (p.Gln399Glu)
n.697C>G
n.811C>G
c.1003C>G (p.Gln335Glu)
c.820C>G (p.Gln274Glu)
1g.77933465C>TCA340877236NEXNc.1237C>T (p.Gln413Ter)
c.1045C>T (p.Gln349Ter)
c.936C>T
c.1195C>T (p.Gln399Ter)
n.697C>T
n.811C>T
c.1003C>T (p.Gln335Ter)
c.820C>T (p.Gln274Ter)
1g.77933466A=CA1177626797NEXNc.1238A= (p.Gln413=)
c.1046A= (p.Gln349=)
c.937A=
c.1196A= (p.Gln399=)
n.698A=
n.812A=
c.1004A= (p.Gln335=)
c.821A= (p.Gln274=)
1g.77933466A>CCA340877239NEXNc.1238A>C (p.Gln413Pro)
c.1046A>C (p.Gln349Pro)
c.937A>C
c.1196A>C (p.Gln399Pro)
n.698A>C
n.812A>C
c.1004A>C (p.Gln335Pro)
c.821A>C (p.Gln274Pro)
1g.77933466A>GCA340877241NEXNc.1238A>G (p.Gln413Arg)
c.1046A>G (p.Gln349Arg)
c.937A>G
c.1196A>G (p.Gln399Arg)
n.698A>G
n.812A>G
c.1004A>G (p.Gln335Arg)
c.821A>G (p.Gln274Arg)
 ClinVar dbSNP gnomAD v4
1g.77933466A>TCA340877243NEXNc.1238A>T (p.Gln413Leu)
c.1046A>T (p.Gln349Leu)
c.937A>T
c.1196A>T (p.Gln399Leu)
n.698A>T
n.812A>T
c.1004A>T (p.Gln335Leu)
c.821A>T (p.Gln274Leu)
1g.77933467G>ACA418572130NEXNc.1239G>A (p.Gln413=)
c.1047G>A (p.Gln349=)
c.938G>A
c.1197G>A (p.Gln399=)
n.699G>A
n.813G>A
c.1005G>A (p.Gln335=)
c.822G>A (p.Gln274=)
 dbSNP COSMIC COSMIC
1g.77933467G>CCA340877244NEXNc.1239G>C (p.Gln413His)
c.1047G>C (p.Gln349His)
c.938G>C
c.1197G>C (p.Gln399His)
n.699G>C
n.813G>C
c.1005G>C (p.Gln335His)
c.822G>C (p.Gln274His)
 dbSNP
1g.77933467G=CA1177626799NEXNc.1239G= (p.Gln413=)
c.1047G= (p.Gln349=)
c.938G=
c.1197G= (p.Gln399=)
n.699G=
n.813G=
c.1005G= (p.Gln335=)
c.822G= (p.Gln274=)
1g.77933467G>TCA340877246NEXNc.1239G>T (p.Gln413His)
c.1047G>T (p.Gln349His)
c.938G>T
c.1197G>T (p.Gln399His)
n.699G>T
n.813G>T
c.1005G>T (p.Gln335His)
c.822G>T (p.Gln274His)
1g.77933468G>ACA340877247NEXNc.1240G>A (p.Glu414Lys)
c.1048G>A (p.Glu350Lys)
c.939G>A
c.1198G>A (p.Glu400Lys)
n.700G>A
n.814G>A
c.1006G>A (p.Glu336Lys)
c.823G>A (p.Glu275Lys)
 gnomAD v4
1g.77933468G>CCA918828NEXNc.1240G>C (p.Glu414Gln)
c.1048G>C (p.Glu350Gln)
c.939G>C
c.1198G>C (p.Glu400Gln)
n.700G>C
n.814G>C
c.1006G>C (p.Glu336Gln)
c.823G>C (p.Glu275Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77933468G=CA1177626803NEXNc.1240G= (p.Glu414=)
c.1048G= (p.Glu350=)
c.939G=
c.1198G= (p.Glu400=)
n.700G=
n.814G=
c.1006G= (p.Glu336=)
c.823G= (p.Glu275=)
1g.77933468G>TCA340877249NEXNc.1240G>T (p.Glu414Ter)
c.1048G>T (p.Glu350Ter)
c.939G>T
c.1198G>T (p.Glu400Ter)
n.700G>T
n.814G>T
c.1006G>T (p.Glu336Ter)
c.823G>T (p.Glu275Ter)
1g.77933469A>CCA340877251NEXNc.1241A>C (p.Glu414Ala)
c.1049A>C (p.Glu350Ala)
c.940A>C
c.1199A>C (p.Glu400Ala)
n.701A>C
n.815A>C
c.1007A>C (p.Glu336Ala)
c.824A>C (p.Glu275Ala)
1g.77933469A>GCA340877253NEXNc.1241A>G (p.Glu414Gly)
c.1049A>G (p.Glu350Gly)
c.940A>G
c.1199A>G (p.Glu400Gly)
n.701A>G
n.815A>G
c.1007A>G (p.Glu336Gly)
c.824A>G (p.Glu275Gly)
1g.77933469A>TCA340877255NEXNc.1241A>T (p.Glu414Val)
c.1049A>T (p.Glu350Val)
c.940A>T
c.1199A>T (p.Glu400Val)
n.701A>T
n.815A>T
c.1007A>T (p.Glu336Val)
c.824A>T (p.Glu275Val)
1g.77933470A=CA1177626805NEXNc.1242A= (p.Glu414=)
c.1050A= (p.Glu350=)
c.941A=
c.1200A= (p.Glu400=)
n.702A=
n.816A=
c.1008A= (p.Glu336=)
c.825A= (p.Glu275=)
1g.77933470A>CCA340877256NEXNc.1242A>C (p.Glu414Asp)
c.1050A>C (p.Glu350Asp)
c.941A>C
c.1200A>C (p.Glu400Asp)
n.702A>C
n.816A>C
c.1008A>C (p.Glu336Asp)
c.825A>C (p.Glu275Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77933470A>GCA418572131NEXNc.1242A>G (p.Glu414=)
c.1050A>G (p.Glu350=)
c.941A>G
c.1200A>G (p.Glu400=)
n.702A>G
n.816A>G
c.1008A>G (p.Glu336=)
c.825A>G (p.Glu275=)
1g.77933470A>TCA340877258NEXNc.1242A>T (p.Glu414Asp)
c.1050A>T (p.Glu350Asp)
c.941A>T
c.1200A>T (p.Glu400Asp)
n.702A>T
n.816A>T
c.1008A>T (p.Glu336Asp)
c.825A>T (p.Glu275Asp)
1g.77933471A>CCA340877259NEXNc.1243A>C (p.Met415Leu)
c.1051A>C (p.Met351Leu)
c.942A>C
c.1201A>C (p.Met401Leu)
n.703A>C
n.817A>C
c.1009A>C (p.Met337Leu)
c.826A>C (p.Met276Leu)
1g.77933471A>GCA340877261NEXNc.1243A>G (p.Met415Val)
c.1051A>G (p.Met351Val)
c.942A>G
c.1201A>G (p.Met401Val)
n.703A>G
n.817A>G
c.1009A>G (p.Met337Val)
c.826A>G (p.Met276Val)
1g.77933471A>TCA340877262NEXNc.1243A>T (p.Met415Leu)
c.1051A>T (p.Met351Leu)
c.942A>T
c.1201A>T (p.Met401Leu)
n.703A>T
n.817A>T
c.1009A>T (p.Met337Leu)
c.826A>T (p.Met276Leu)

Number of alleles fetched