Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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=)

Number of alleles fetched