Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.153816347G>ACA342526925GATAD2Bc.719C>T (p.Pro240Leu)
c.1142C>T (p.Pro381Leu)
c.1094C>T (p.Pro365Leu)
c.396C>T
1g.153816347G>CCA342526926GATAD2Bc.719C>G (p.Pro240Arg)
c.1142C>G (p.Pro381Arg)
c.1094C>G (p.Pro365Arg)
c.396C>G
1g.153816347G>TCA342526928GATAD2Bc.719C>A (p.Pro240His)
c.1142C>A (p.Pro381His)
c.1094C>A (p.Pro365His)
c.396C>A
1g.153816347_153816348delCA2574060025GATAD2Bc.718_719del (p.Pro240Ter)
c.1141_1142del (p.Pro381Ter)
c.1093_1094del (p.Pro365Ter)
c.395_396del
1g.153816348G>ACA342526937GATAD2Bc.718C>T (p.Pro240Ser)
c.1141C>T (p.Pro381Ser)
c.1093C>T (p.Pro365Ser)
c.395C>T
1g.153816348G>CCA342526941GATAD2Bc.718C>G (p.Pro240Ala)
c.1141C>G (p.Pro381Ala)
c.1093C>G (p.Pro365Ala)
c.395C>G
1g.153816348G>TCA342526934GATAD2Bc.718C>A (p.Pro240Thr)
c.1141C>A (p.Pro381Thr)
c.1093C>A (p.Pro365Thr)
c.395C>A
1g.153816349C>ACA342526955GATAD2Bc.717G>T (p.Leu239Phe)
c.1140G>T (p.Leu380Phe)
c.1092G>T (p.Leu364Phe)
c.394G>T
1g.153816349C=CA2480601962GATAD2Bc.717G= (p.Leu239=)
c.1140G= (p.Leu380=)
c.1092G= (p.Leu364=)
c.394G=
1g.153816349C>GCA342526947GATAD2Bc.717G>C (p.Leu239Phe)
c.1140G>C (p.Leu380Phe)
c.1092G>C (p.Leu364Phe)
c.394G>C
1g.153816349C>TCA420946077GATAD2Bc.717G>A (p.Leu239=)
c.1140G>A (p.Leu380=)
c.1092G>A (p.Leu364=)
c.394G>A
 dbSNP gnomAD v2 gnomAD v4
1g.153816350A>CCA342526969GATAD2Bc.716T>G (p.Leu239Trp)
c.1139T>G (p.Leu380Trp)
c.1091T>G (p.Leu364Trp)
c.393T>G
1g.153816350A>GCA342526970GATAD2Bc.716T>C (p.Leu239Ser)
c.1139T>C (p.Leu380Ser)
c.1091T>C (p.Leu364Ser)
c.393T>C
1g.153816350A>TCA342526971GATAD2Bc.716T>A (p.Leu239Ter)
c.1139T>A (p.Leu380Ter)
c.1091T>A (p.Leu364Ter)
c.393T>A
1g.153816351A>CCA342526972GATAD2Bc.715T>G (p.Leu239Val)
c.1138T>G (p.Leu380Val)
c.1090T>G (p.Leu364Val)
c.392T>G
1g.153816351A>GCA420946078GATAD2Bc.715T>C (p.Leu239=)
c.1138T>C (p.Leu380=)
c.1090T>C (p.Leu364=)
c.392T>C
1g.153816351A>TCA342526974GATAD2Bc.715T>A (p.Leu239Met)
c.1138T>A (p.Leu380Met)
c.1090T>A (p.Leu364Met)
c.392T>A
1g.153816352G>ACA420946079GATAD2Bc.714C>T (p.Phe238=)
c.1137C>T (p.Phe379=)
c.1089C>T (p.Phe363=)
c.391C>T
1g.153816352G>CCA342526982GATAD2Bc.714C>G (p.Phe238Leu)
c.1137C>G (p.Phe379Leu)
c.1089C>G (p.Phe363Leu)
c.391C>G
1g.153816352G>TCA342526984GATAD2Bc.714C>A (p.Phe238Leu)
c.1137C>A (p.Phe379Leu)
c.1089C>A (p.Phe363Leu)
c.391C>A
1g.153816353A>CCA342526992GATAD2Bc.713T>G (p.Phe238Cys)
c.1136T>G (p.Phe379Cys)
c.1088T>G (p.Phe363Cys)
c.390T>G
1g.153816353A>GCA342527003GATAD2Bc.713T>C (p.Phe238Ser)
c.1136T>C (p.Phe379Ser)
c.1088T>C (p.Phe363Ser)
c.390T>C
1g.153816353A>TCA342527007GATAD2Bc.713T>A (p.Phe238Tyr)
c.1136T>A (p.Phe379Tyr)
c.1088T>A (p.Phe363Tyr)
c.390T>A
1g.153816354A>CCA342527013GATAD2Bc.712T>G (p.Phe238Val)
c.1135T>G (p.Phe379Val)
c.1087T>G (p.Phe363Val)
c.389T>G
1g.153816354A>GCA342527022GATAD2Bc.712T>C (p.Phe238Leu)
c.1135T>C (p.Phe379Leu)
c.1087T>C (p.Phe363Leu)
c.389T>C
1g.153816354A>TCA342527036GATAD2Bc.712T>A (p.Phe238Ile)
c.1135T>A (p.Phe379Ile)
c.1087T>A (p.Phe363Ile)
c.389T>A
1g.153816355A>CCA342527052GATAD2Bc.711T>G (p.His237Gln)
c.1134T>G (p.His378Gln)
c.1086T>G (p.His362Gln)
c.388T>G
1g.153816355A>GCA420946080GATAD2Bc.711T>C (p.His237=)
c.1134T>C (p.His378=)
c.1086T>C (p.His362=)
c.388T>C
1g.153816355A>TCA342527053GATAD2Bc.711T>A (p.His237Gln)
c.1134T>A (p.His378Gln)
c.1086T>A (p.His362Gln)
c.388T>A
1g.153816356T>ACA342527054GATAD2Bc.710A>T (p.His237Leu)
c.1133A>T (p.His378Leu)
c.1085A>T (p.His362Leu)
c.387A>T
1g.153816356T>CCA342527055GATAD2Bc.710A>G (p.His237Arg)
c.1133A>G (p.His378Arg)
c.1085A>G (p.His362Arg)
c.387A>G
1g.153816356T>GCA342527057GATAD2Bc.710A>C (p.His237Pro)
c.1133A>C (p.His378Pro)
c.1085A>C (p.His362Pro)
c.387A>C
1g.153816357G>ACA342527071GATAD2Bc.709C>T (p.His237Tyr)
c.1132C>T (p.His378Tyr)
c.1084C>T (p.His362Tyr)
c.386C>T
 COSMIC
1g.153816357G>CCA342527077GATAD2Bc.709C>G (p.His237Asp)
c.1132C>G (p.His378Asp)
c.1084C>G (p.His362Asp)
c.386C>G
1g.153816357G>TCA342527085GATAD2Bc.709C>A (p.His237Asn)
c.1132C>A (p.His378Asn)
c.1084C>A (p.His362Asn)
c.386C>A
1g.153816358A>CCA420946081GATAD2Bc.708T>G (p.Leu236=)
c.1131T>G (p.Leu377=)
c.1083T>G (p.Leu361=)
c.385T>G
 gnomAD v4
1g.153816358A>GCA420946082GATAD2Bc.708T>C (p.Leu236=)
c.1131T>C (p.Leu377=)
c.1083T>C (p.Leu361=)
c.385T>C
1g.153816358A>TCA420946083GATAD2Bc.708T>A (p.Leu236=)
c.1131T>A (p.Leu377=)
c.1083T>A (p.Leu361=)
c.385T>A
1g.153816359A>CCA342527095GATAD2Bc.707T>G (p.Leu236Arg)
c.1130T>G (p.Leu377Arg)
c.1082T>G (p.Leu361Arg)
c.384T>G
1g.153816359A>GCA342527099GATAD2Bc.707T>C (p.Leu236Pro)
c.1130T>C (p.Leu377Pro)
c.1082T>C (p.Leu361Pro)
c.384T>C
1g.153816359A>TCA342527102GATAD2Bc.707T>A (p.Leu236His)
c.1130T>A (p.Leu377His)
c.1082T>A (p.Leu361His)
c.384T>A
1g.153816360G>ACA342527105GATAD2Bc.706C>T (p.Leu236Phe)
c.1129C>T (p.Leu377Phe)
c.1081C>T (p.Leu361Phe)
c.383C>T
1g.153816360G>CCA342527106GATAD2Bc.706C>G (p.Leu236Val)
c.1129C>G (p.Leu377Val)
c.1081C>G (p.Leu361Val)
c.383C>G
1g.153816360G>TCA342527109GATAD2Bc.706C>A (p.Leu236Ile)
c.1129C>A (p.Leu377Ile)
c.1081C>A (p.Leu361Ile)
c.383C>A
1g.153816361delCA2746166820GATAD2Bc.705del (p.Leu235PhefsTer17)
c.1128del (p.Leu376PhefsTer17)
c.1080del (p.Leu360PhefsTer17)
c.382del
1g.153816361T>ACA342527112GATAD2Bc.705A>T (p.Leu235Phe)
c.1128A>T (p.Leu376Phe)
c.1080A>T (p.Leu360Phe)
c.382A>T
1g.153816361T>CCA1120698GATAD2Bc.705A>G (p.Leu235=)
c.1128A>G (p.Leu376=)
c.1080A>G (p.Leu360=)
c.382A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153816361T>GCA1120699GATAD2Bc.705A>C (p.Leu235Phe)
c.1128A>C (p.Leu376Phe)
c.1080A>C (p.Leu360Phe)
c.382A>C
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.153816361T=CA1141605113GATAD2Bc.705A= (p.Leu235=)
c.1128A= (p.Leu376=)
c.1080A= (p.Leu360=)
c.382A=
1g.153816362A>CCA342527115GATAD2Bc.704T>G (p.Leu235Ter)
c.1127T>G (p.Leu376Ter)
c.1079T>G (p.Leu360Ter)
c.381T>G
1g.153816362A>GCA342527116GATAD2Bc.704T>C (p.Leu235Ser)
c.1127T>C (p.Leu376Ser)
c.1079T>C (p.Leu360Ser)
c.381T>C
1g.153816362A>TCA342527117GATAD2Bc.704T>A (p.Leu235Ter)
c.1127T>A (p.Leu376Ter)
c.1079T>A (p.Leu360Ter)
c.381T>A
1g.153816363A>CCA342527118GATAD2Bc.703T>G (p.Leu235Val)
c.1126T>G (p.Leu376Val)
c.1078T>G (p.Leu360Val)
c.380T>G
1g.153816363A>GCA420946084GATAD2Bc.703T>C (p.Leu235=)
c.1126T>C (p.Leu376=)
c.1078T>C (p.Leu360=)
c.380T>C
1g.153816363A>TCA342527121GATAD2Bc.703T>A (p.Leu235Ile)
c.1126T>A (p.Leu376Ile)
c.1078T>A (p.Leu360Ile)
c.380T>A
1g.153816364G>ACA420946087GATAD2Bc.702C>T (p.Pro234=)
c.1125C>T (p.Pro375=)
c.1077C>T (p.Pro359=)
c.379C>T
 ClinVar dbSNP gnomAD v4
1g.153816364G>CCA420946085GATAD2Bc.702C>G (p.Pro234=)
c.1125C>G (p.Pro375=)
c.1077C>G (p.Pro359=)
c.379C>G
1g.153816364G=CA2480601963GATAD2Bc.702C= (p.Pro234=)
c.1125C= (p.Pro375=)
c.1077C= (p.Pro359=)
c.379C=
1g.153816364G>TCA420946086GATAD2Bc.702C>A (p.Pro234=)
c.1125C>A (p.Pro375=)
c.1077C>A (p.Pro359=)
c.379C>A
1g.153816365G>ACA342527128GATAD2Bc.701C>T (p.Pro234Leu)
c.1124C>T (p.Pro375Leu)
c.1076C>T (p.Pro359Leu)
c.378C>T
1g.153816365G>CCA342527125GATAD2Bc.701C>G (p.Pro234Arg)
c.1124C>G (p.Pro375Arg)
c.1076C>G (p.Pro359Arg)
c.378C>G
1g.153816365G>TCA342527122GATAD2Bc.701C>A (p.Pro234His)
c.1124C>A (p.Pro375His)
c.1076C>A (p.Pro359His)
c.378C>A
1g.153816366G>ACA342527132GATAD2Bc.700C>T (p.Pro234Ser)
c.1123C>T (p.Pro375Ser)
c.1075C>T (p.Pro359Ser)
c.377C>T
 gnomAD v4 COSMIC
1g.153816366G>CCA342527144GATAD2Bc.700C>G (p.Pro234Ala)
c.1123C>G (p.Pro375Ala)
c.1075C>G (p.Pro359Ala)
c.377C>G
1g.153816366G>TCA342527147GATAD2Bc.700C>A (p.Pro234Thr)
c.1123C>A (p.Pro375Thr)
c.1075C>A (p.Pro359Thr)
c.377C>A
1g.153816367A>CCA420946088GATAD2Bc.699T>G (p.Ala233=)
c.1122T>G (p.Ala374=)
c.1074T>G (p.Ala358=)
c.376T>G
1g.153816367A>GCA420946089GATAD2Bc.699T>C (p.Ala233=)
c.1122T>C (p.Ala374=)
c.1074T>C (p.Ala358=)
c.376T>C
1g.153816367A>TCA420946090GATAD2Bc.699T>A (p.Ala233=)
c.1122T>A (p.Ala374=)
c.1074T>A (p.Ala358=)
c.376T>A
1g.153816368G>ACA342527156GATAD2Bc.698C>T (p.Ala233Val)
c.1121C>T (p.Ala374Val)
c.1073C>T (p.Ala358Val)
c.375C>T
1g.153816368G>CCA342527158GATAD2Bc.698C>G (p.Ala233Gly)
c.1121C>G (p.Ala374Gly)
c.1073C>G (p.Ala358Gly)
c.375C>G
1g.153816368G>TCA342527163GATAD2Bc.698C>A (p.Ala233Asp)
c.1121C>A (p.Ala374Asp)
c.1073C>A (p.Ala358Asp)
c.375C>A
1g.153816369C>ACA342527166GATAD2Bc.697G>T (p.Ala233Ser)
c.1120G>T (p.Ala374Ser)
c.1072G>T (p.Ala358Ser)
c.374G>T
1g.153816369C>GCA342527169GATAD2Bc.697G>C (p.Ala233Pro)
c.1120G>C (p.Ala374Pro)
c.1072G>C (p.Ala358Pro)
c.374G>C
1g.153816369C>TCA342527167GATAD2Bc.697G>A (p.Ala233Thr)
c.1120G>A (p.Ala374Thr)
c.1072G>A (p.Ala358Thr)
c.374G>A
1g.153816370A>CCA420946093GATAD2Bc.696T>G (p.Pro232=)
c.1119T>G (p.Pro373=)
c.1071T>G (p.Pro357=)
c.373T>G
1g.153816370A>GCA420946091GATAD2Bc.696T>C (p.Pro232=)
c.1119T>C (p.Pro373=)
c.1071T>C (p.Pro357=)
c.373T>C
1g.153816370A>TCA420946092GATAD2Bc.696T>A (p.Pro232=)
c.1119T>A (p.Pro373=)
c.1071T>A (p.Pro357=)
c.373T>A
1g.153816371G>ACA342527170GATAD2Bc.695C>T (p.Pro232Leu)
c.1118C>T (p.Pro373Leu)
c.1070C>T (p.Pro357Leu)
c.372C>T
1g.153816371G>CCA342527171GATAD2Bc.695C>G (p.Pro232Arg)
c.1118C>G (p.Pro373Arg)
c.1070C>G (p.Pro357Arg)
c.372C>G
1g.153816371G>TCA342527172GATAD2Bc.695C>A (p.Pro232His)
c.1118C>A (p.Pro373His)
c.1070C>A (p.Pro357His)
c.372C>A
1g.153816372G>ACA30707752GATAD2Bc.694C>T (p.Pro232Ser)
c.1117C>T (p.Pro373Ser)
c.1069C>T (p.Pro357Ser)
c.371C>T
 dbSNP
1g.153816372G>CCA342527178GATAD2Bc.694C>G (p.Pro232Ala)
c.1117C>G (p.Pro373Ala)
c.1069C>G (p.Pro357Ala)
c.371C>G
1g.153816372G=CA2480601964GATAD2Bc.694C= (p.Pro232=)
c.1117C= (p.Pro373=)
c.1069C= (p.Pro357=)
c.371C=
1g.153816372G>TCA342527180GATAD2Bc.694C>A (p.Pro232Thr)
c.1117C>A (p.Pro373Thr)
c.1069C>A (p.Pro357Thr)
c.371C>A
1g.153816373A>CCA420946094GATAD2Bc.693T>G (p.Pro231=)
c.1116T>G (p.Pro372=)
c.1068T>G (p.Pro356=)
c.370T>G
 COSMIC
1g.153816373A>GCA420946095GATAD2Bc.693T>C (p.Pro231=)
c.1116T>C (p.Pro372=)
c.1068T>C (p.Pro356=)
c.370T>C
1g.153816373A>TCA420946096GATAD2Bc.693T>A (p.Pro231=)
c.1116T>A (p.Pro372=)
c.1068T>A (p.Pro356=)
c.370T>A
1g.153816374G>ACA342527184GATAD2Bc.692C>T (p.Pro231Leu)
c.1115C>T (p.Pro372Leu)
c.1067C>T (p.Pro356Leu)
c.369C>T
1g.153816374G>CCA342527186GATAD2Bc.692C>G (p.Pro231Arg)
c.1115C>G (p.Pro372Arg)
c.1067C>G (p.Pro356Arg)
c.369C>G
1g.153816374G>TCA342527187GATAD2Bc.692C>A (p.Pro231His)
c.1115C>A (p.Pro372His)
c.1067C>A (p.Pro356His)
c.369C>A
1g.153816375G>ACA342527190GATAD2Bc.691C>T (p.Pro231Ser)
c.1114C>T (p.Pro372Ser)
c.1066C>T (p.Pro356Ser)
c.368C>T
1g.153816375G>CCA342527192GATAD2Bc.691C>G (p.Pro231Ala)
c.1114C>G (p.Pro372Ala)
c.1066C>G (p.Pro356Ala)
c.368C>G
1g.153816375G=CA2480601965GATAD2Bc.691C= (p.Pro231=)
c.1114C= (p.Pro372=)
c.1066C= (p.Pro356=)
c.368C=
1g.153816375G>TCA342527194GATAD2Bc.691C>A (p.Pro231Thr)
c.1114C>A (p.Pro372Thr)
c.1066C>A (p.Pro356Thr)
c.368C>A
 ClinVar dbSNP
1g.153816376T>ACA342527196GATAD2Bc.690A>T (p.Lys230Asn)
c.1113A>T (p.Lys371Asn)
c.1065A>T (p.Lys355Asn)
c.367A>T
1g.153816376T>CCA420946097GATAD2Bc.690A>G (p.Lys230=)
c.1113A>G (p.Lys371=)
c.1065A>G (p.Lys355=)
c.367A>G
 gnomAD v4
1g.153816376T>GCA342527198GATAD2Bc.690A>C (p.Lys230Asn)
c.1113A>C (p.Lys371Asn)
c.1065A>C (p.Lys355Asn)
c.367A>C
1g.153816377T>ACA342527201GATAD2Bc.689A>T (p.Lys230Ile)
c.1112A>T (p.Lys371Ile)
c.1064A>T (p.Lys355Ile)
c.366A>T
1g.153816377T>CCA342527203GATAD2Bc.689A>G (p.Lys230Arg)
c.1112A>G (p.Lys371Arg)
c.1064A>G (p.Lys355Arg)
c.366A>G
1g.153816377T>GCA342527202GATAD2Bc.689A>C (p.Lys230Thr)
c.1112A>C (p.Lys371Thr)
c.1064A>C (p.Lys355Thr)
c.366A>C
1g.153816378T>ACA342527204GATAD2Bc.688A>T (p.Lys230Ter)
c.1111A>T (p.Lys371Ter)
c.1063A>T (p.Lys355Ter)
c.365A>T
1g.153816378T>CCA342527208GATAD2Bc.688A>G (p.Lys230Glu)
c.1111A>G (p.Lys371Glu)
c.1063A>G (p.Lys355Glu)
c.365A>G
 gnomAD v4
1g.153816378T>GCA342527205GATAD2Bc.688A>C (p.Lys230Gln)
c.1111A>C (p.Lys371Gln)
c.1063A>C (p.Lys355Gln)
c.365A>C
1g.153816379A>CCA420946099GATAD2Bc.687T>G (p.Pro229=)
c.1110T>G (p.Pro370=)
c.1062T>G (p.Pro354=)
c.364T>G
1g.153816379A>GCA420946100GATAD2Bc.687T>C (p.Pro229=)
c.1110T>C (p.Pro370=)
c.1062T>C (p.Pro354=)
c.364T>C
1g.153816379A>TCA420946098GATAD2Bc.687T>A (p.Pro229=)
c.1110T>A (p.Pro370=)
c.1062T>A (p.Pro354=)
c.364T>A
1g.153816380G>ACA342527212GATAD2Bc.686C>T (p.Pro229Leu)
c.1109C>T (p.Pro370Leu)
c.1061C>T (p.Pro354Leu)
c.363C>T
1g.153816380G>CCA342527214GATAD2Bc.686C>G (p.Pro229Arg)
c.1109C>G (p.Pro370Arg)
c.1061C>G (p.Pro354Arg)
c.363C>G
1g.153816380G>TCA342527213GATAD2Bc.686C>A (p.Pro229His)
c.1109C>A (p.Pro370His)
c.1061C>A (p.Pro354His)
c.363C>A
1g.153816381G>ACA342527217GATAD2Bc.685C>T (p.Pro229Ser)
c.1108C>T (p.Pro370Ser)
c.1060C>T (p.Pro354Ser)
c.362C>T
1g.153816381G>CCA342527220GATAD2Bc.685C>G (p.Pro229Ala)
c.1108C>G (p.Pro370Ala)
c.1060C>G (p.Pro354Ala)
c.362C>G
1g.153816381G>TCA342527219GATAD2Bc.685C>A (p.Pro229Thr)
c.1108C>A (p.Pro370Thr)
c.1060C>A (p.Pro354Thr)
c.362C>A
 ClinVar
1g.153816382G>ACA420946101GATAD2Bc.684C>T (p.Pro228=)
c.1107C>T (p.Pro369=)
c.1059C>T (p.Pro353=)
c.361C>T
1g.153816382G>CCA420946102GATAD2Bc.684C>G (p.Pro228=)
c.1107C>G (p.Pro369=)
c.1059C>G (p.Pro353=)
c.361C>G
1g.153816382G=CA2480601966GATAD2Bc.684C= (p.Pro228=)
c.1107C= (p.Pro369=)
c.1059C= (p.Pro353=)
c.361C=
1g.153816382G>TCA1120700GATAD2Bc.684C>A (p.Pro228=)
c.1107C>A (p.Pro369=)
c.1059C>A (p.Pro353=)
c.361C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.153816384_153816397delCA2648090258GATAD2Bc.671_684del (p.Leu224ProfsTer2)
c.1094_1107del (p.Leu365ProfsTer2)
c.1046_1059del (p.Leu349ProfsTer2)
c.348_361del
 gnomAD v4
1g.153816383G>ACA1120701GATAD2Bc.683C>T (p.Pro228Leu)
c.1106C>T (p.Pro369Leu)
c.1058C>T (p.Pro353Leu)
c.360C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.153816383G>CCA342527228GATAD2Bc.683C>G (p.Pro228Arg)
c.1106C>G (p.Pro369Arg)
c.1058C>G (p.Pro353Arg)
c.360C>G
1g.153816383G=CA1148441159GATAD2Bc.683C= (p.Pro228=)
c.1106C= (p.Pro369=)
c.1058C= (p.Pro353=)
c.360C=
1g.153816383G>TCA342527229GATAD2Bc.683C>A (p.Pro228His)
c.1106C>A (p.Pro369His)
c.1058C>A (p.Pro353His)
c.360C>A
1g.153816384G>ACA342527232GATAD2Bc.682C>T (p.Pro228Ser)
c.1105C>T (p.Pro369Ser)
c.1057C>T (p.Pro353Ser)
c.359C>T
 gnomAD v4
1g.153816384G>CCA342527235GATAD2Bc.682C>G (p.Pro228Ala)
c.1105C>G (p.Pro369Ala)
c.1057C>G (p.Pro353Ala)
c.359C>G
1g.153816384G>TCA342527238GATAD2Bc.682C>A (p.Pro228Thr)
c.1105C>A (p.Pro369Thr)
c.1057C>A (p.Pro353Thr)
c.359C>A
1g.153816385T>ACA420946103GATAD2Bc.681A>T (p.Pro227=)
c.1104A>T (p.Pro368=)
c.1056A>T (p.Pro352=)
c.358A>T
1g.153816385T>CCA1120702GATAD2Bc.681A>G (p.Pro227=)
c.1104A>G (p.Pro368=)
c.1056A>G (p.Pro352=)
c.358A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153816385T>GCA420946104GATAD2Bc.681A>C (p.Pro227=)
c.1104A>C (p.Pro368=)
c.1056A>C (p.Pro352=)
c.358A>C
1g.153816385T=CA2480601967GATAD2Bc.681A= (p.Pro227=)
c.1104A= (p.Pro368=)
c.1056A= (p.Pro352=)
c.358A=
1g.153816386G>ACA342527242GATAD2Bc.680C>T (p.Pro227Leu)
c.1103C>T (p.Pro368Leu)
c.1055C>T (p.Pro352Leu)
c.357C>T
1g.153816386G>CCA342527245GATAD2Bc.680C>G (p.Pro227Arg)
c.1103C>G (p.Pro368Arg)
c.1055C>G (p.Pro352Arg)
c.357C>G
1g.153816386G>TCA342527246GATAD2Bc.680C>A (p.Pro227Gln)
c.1103C>A (p.Pro368Gln)
c.1055C>A (p.Pro352Gln)
c.357C>A
1g.153816387G>ACA342527247GATAD2Bc.679C>T (p.Pro227Ser)
c.1102C>T (p.Pro368Ser)
c.1054C>T (p.Pro352Ser)
c.356C>T
 COSMIC
1g.153816387G>CCA342527252GATAD2Bc.679C>G (p.Pro227Ala)
c.1102C>G (p.Pro368Ala)
c.1054C>G (p.Pro352Ala)
c.356C>G
1g.153816387G=CA2480601968GATAD2Bc.679C= (p.Pro227=)
c.1102C= (p.Pro368=)
c.1054C= (p.Pro352=)
c.356C=
1g.153816387G>TCA342527249GATAD2Bc.679C>A (p.Pro227Thr)
c.1102C>A (p.Pro368Thr)
c.1054C>A (p.Pro352Thr)
c.356C>A
 dbSNP gnomAD v2
1g.153816388G>ACA420946105GATAD2Bc.678C>T (p.Ile226=)
c.1101C>T (p.Ile367=)
c.1053C>T (p.Ile351=)
c.355C>T
1g.153816388G>CCA342527264GATAD2Bc.678C>G (p.Ile226Met)
c.1101C>G (p.Ile367Met)
c.1053C>G (p.Ile351Met)
c.355C>G
1g.153816388G>TCA420946106GATAD2Bc.678C>A (p.Ile226=)
c.1101C>A (p.Ile367=)
c.1053C>A (p.Ile351=)
c.355C>A
1g.153816389A>CCA342527268GATAD2Bc.677T>G (p.Ile226Ser)
c.1100T>G (p.Ile367Ser)
c.1052T>G (p.Ile351Ser)
c.354T>G
1g.153816389A>GCA342527272GATAD2Bc.677T>C (p.Ile226Thr)
c.1100T>C (p.Ile367Thr)
c.1052T>C (p.Ile351Thr)
c.354T>C
1g.153816389A>TCA342527275GATAD2Bc.677T>A (p.Ile226Asn)
c.1100T>A (p.Ile367Asn)
c.1052T>A (p.Ile351Asn)
c.354T>A
1g.153816390T>ACA342527276GATAD2Bc.676A>T (p.Ile226Phe)
c.1099A>T (p.Ile367Phe)
c.1051A>T (p.Ile351Phe)
c.353A>T
 gnomAD v4
1g.153816390T>CCA342527277GATAD2Bc.676A>G (p.Ile226Val)
c.1099A>G (p.Ile367Val)
c.1051A>G (p.Ile351Val)
c.353A>G
1g.153816390T>GCA342527278GATAD2Bc.676A>C (p.Ile226Leu)
c.1099A>C (p.Ile367Leu)
c.1051A>C (p.Ile351Leu)
c.353A>C
1g.153816391C>ACA342527280GATAD2Bc.675G>T (p.Glu225Asp)
c.1098G>T (p.Glu366Asp)
c.1050G>T (p.Glu350Asp)
c.352G>T
 gnomAD v4
1g.153816391C>GCA342527283GATAD2Bc.675G>C (p.Glu225Asp)
c.1098G>C (p.Glu366Asp)
c.1050G>C (p.Glu350Asp)
c.352G>C
1g.153816391C>TCA420946107GATAD2Bc.675G>A (p.Glu225=)
c.1098G>A (p.Glu366=)
c.1050G>A (p.Glu350=)
c.352G>A
1g.153816392T>ACA342527289GATAD2Bc.674A>T (p.Glu225Val)
c.1097A>T (p.Glu366Val)
c.1049A>T (p.Glu350Val)
c.351A>T
1g.153816392T>CCA342527293GATAD2Bc.674A>G (p.Glu225Gly)
c.1097A>G (p.Glu366Gly)
c.1049A>G (p.Glu350Gly)
c.351A>G
1g.153816392T>GCA342527287GATAD2Bc.674A>C (p.Glu225Ala)
c.1097A>C (p.Glu366Ala)
c.1049A>C (p.Glu350Ala)
c.351A>C
1g.153816393C>ACA342527296GATAD2Bc.673G>T (p.Glu225Ter)
c.1096G>T (p.Glu366Ter)
c.1048G>T (p.Glu350Ter)
c.350G>T
1g.153816393C>GCA342527299GATAD2Bc.673G>C (p.Glu225Gln)
c.1096G>C (p.Glu366Gln)
c.1048G>C (p.Glu350Gln)
c.350G>C
1g.153816393C>TCA342527301GATAD2Bc.673G>A (p.Glu225Lys)
c.1096G>A (p.Glu366Lys)
c.1048G>A (p.Glu350Lys)
c.350G>A
1g.153816394C>ACA420946108GATAD2Bc.672G>T (p.Leu224=)
c.1095G>T (p.Leu365=)
c.1047G>T (p.Leu349=)
c.349G>T
1g.153816394C>GCA420946109GATAD2Bc.672G>C (p.Leu224=)
c.1095G>C (p.Leu365=)
c.1047G>C (p.Leu349=)
c.349G>C
1g.153816394C>TCA420946110GATAD2Bc.672G>A (p.Leu224=)
c.1095G>A (p.Leu365=)
c.1047G>A (p.Leu349=)
c.349G>A
 ClinVar gnomAD v4
1g.153816395A>CCA342527303GATAD2Bc.671T>G (p.Leu224Arg)
c.1094T>G (p.Leu365Arg)
c.1046T>G (p.Leu349Arg)
c.348T>G
1g.153816395A>GCA342527304GATAD2Bc.671T>C (p.Leu224Pro)
c.1094T>C (p.Leu365Pro)
c.1046T>C (p.Leu349Pro)
c.348T>C
1g.153816395A>TCA342527307GATAD2Bc.671T>A (p.Leu224Gln)
c.1094T>A (p.Leu365Gln)
c.1046T>A (p.Leu349Gln)
c.348T>A
1g.153816396G>ACA420946111GATAD2Bc.670C>T (p.Leu224=)
c.1093C>T (p.Leu365=)
c.1045C>T (p.Leu349=)
c.347C>T
 dbSNP gnomAD v3 gnomAD v4
1g.153816396G>CCA342527310GATAD2Bc.670C>G (p.Leu224Val)
c.1093C>G (p.Leu365Val)
c.1045C>G (p.Leu349Val)
c.347C>G
1g.153816396G=CA2480601969GATAD2Bc.670C= (p.Leu224=)
c.1093C= (p.Leu365=)
c.1045C= (p.Leu349=)
c.347C=
1g.153816396G>TCA342527312GATAD2Bc.670C>A (p.Leu224Met)
c.1093C>A (p.Leu365Met)
c.1045C>A (p.Leu349Met)
c.347C>A
1g.153816397G>ACA420946112GATAD2Bc.669C>T (p.Leu223=)
c.1092C>T (p.Leu364=)
c.1044C>T (p.Leu348=)
c.346C>T
1g.153816397G>CCA420946113GATAD2Bc.669C>G (p.Leu223=)
c.1092C>G (p.Leu364=)
c.1044C>G (p.Leu348=)
c.346C>G
1g.153816397G>TCA420946114GATAD2Bc.669C>A (p.Leu223=)
c.1092C>A (p.Leu364=)
c.1044C>A (p.Leu348=)
c.346C>A
1g.153816398A>CCA342527316GATAD2Bc.668T>G (p.Leu223Arg)
c.1091T>G (p.Leu364Arg)
c.1043T>G (p.Leu348Arg)
c.345T>G
1g.153816398A>GCA342527319GATAD2Bc.668T>C (p.Leu223Pro)
c.1091T>C (p.Leu364Pro)
c.1043T>C (p.Leu348Pro)
c.345T>C
1g.153816398A>TCA342527322GATAD2Bc.668T>A (p.Leu223His)
c.1091T>A (p.Leu364His)
c.1043T>A (p.Leu348His)
c.345T>A
1g.153816399G>ACA342527328GATAD2Bc.667C>T (p.Leu223Phe)
c.1090C>T (p.Leu364Phe)
c.1042C>T (p.Leu348Phe)
c.344C>T
1g.153816399G>CCA342527330GATAD2Bc.667C>G (p.Leu223Val)
c.1090C>G (p.Leu364Val)
c.1042C>G (p.Leu348Val)
c.344C>G
1g.153816399G>TCA342527327GATAD2Bc.667C>A (p.Leu223Ile)
c.1090C>A (p.Leu364Ile)
c.1042C>A (p.Leu348Ile)
c.344C>A
1g.153816400T>ACA420946115GATAD2Bc.666A>T (p.Thr222=)
c.1089A>T (p.Thr363=)
c.1041A>T (p.Thr347=)
c.343A>T
1g.153816400T>CCA420946116GATAD2Bc.666A>G (p.Thr222=)
c.1089A>G (p.Thr363=)
c.1041A>G (p.Thr347=)
c.343A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.153816400T>GCA30707798GATAD2Bc.666A>C (p.Thr222=)
c.1089A>C (p.Thr363=)
c.1041A>C (p.Thr347=)
c.343A>C
 ClinVar dbSNP
1g.153816400T=CA2480601970GATAD2Bc.666A= (p.Thr222=)
c.1089A= (p.Thr363=)
c.1041A= (p.Thr347=)
c.343A=
1g.153816401G>ACA342527333GATAD2Bc.665C>T (p.Thr222Ile)
c.1088C>T (p.Thr363Ile)
c.1040C>T (p.Thr347Ile)
c.342C>T
1g.153816401G>CCA342527335GATAD2Bc.665C>G (p.Thr222Arg)
c.1088C>G (p.Thr363Arg)
c.1040C>G (p.Thr347Arg)
c.342C>G
1g.153816401G>TCA342527337GATAD2Bc.665C>A (p.Thr222Lys)
c.1088C>A (p.Thr363Lys)
c.1040C>A (p.Thr347Lys)
c.342C>A
1g.153816402T>ACA342527341GATAD2Bc.664A>T (p.Thr222Ser)
c.1087A>T (p.Thr363Ser)
c.1039A>T (p.Thr347Ser)
c.341A>T
1g.153816402T>CCA342527343GATAD2Bc.664A>G (p.Thr222Ala)
c.1087A>G (p.Thr363Ala)
c.1039A>G (p.Thr347Ala)
c.341A>G
1g.153816402T>GCA342527345GATAD2Bc.664A>C (p.Thr222Pro)
c.1087A>C (p.Thr363Pro)
c.1039A>C (p.Thr347Pro)
c.341A>C
1g.153816403C>ACA342527347GATAD2Bc.663G>T (p.Lys221Asn)
c.1086G>T (p.Lys362Asn)
c.1038G>T (p.Lys346Asn)
c.340G>T
1g.153816403C>GCA342527350GATAD2Bc.663G>C (p.Lys221Asn)
c.1086G>C (p.Lys362Asn)
c.1038G>C (p.Lys346Asn)
c.340G>C
 gnomAD v4
1g.153816403C>TCA420946117GATAD2Bc.663G>A (p.Lys221=)
c.1086G>A (p.Lys362=)
c.1038G>A (p.Lys346=)
c.340G>A
1g.153816404T>ACA342527353GATAD2Bc.662A>T (p.Lys221Met)
c.1085A>T (p.Lys362Met)
c.1037A>T (p.Lys346Met)
c.339A>T
1g.153816404T>CCA342527355GATAD2Bc.662A>G (p.Lys221Arg)
c.1085A>G (p.Lys362Arg)
c.1037A>G (p.Lys346Arg)
c.339A>G
1g.153816404T>GCA342527356GATAD2Bc.662A>C (p.Lys221Thr)
c.1085A>C (p.Lys362Thr)
c.1037A>C (p.Lys346Thr)
c.339A>C
1g.153816405T>ACA342527361GATAD2Bc.661A>T (p.Lys221Ter)
c.1084A>T (p.Lys362Ter)
c.1036A>T (p.Lys346Ter)
c.338A>T
1g.153816405T>CCA342527364GATAD2Bc.661A>G (p.Lys221Glu)
c.1084A>G (p.Lys362Glu)
c.1036A>G (p.Lys346Glu)
c.338A>G
1g.153816405T>GCA342527366GATAD2Bc.661A>C (p.Lys221Gln)
c.1084A>C (p.Lys362Gln)
c.1036A>C (p.Lys346Gln)
c.338A>C
1g.153816406T>ACA342527374GATAD2Bc.660A>T (p.Glu220Asp)
c.1083A>T (p.Glu361Asp)
c.1035A>T (p.Glu345Asp)
c.337A>T
1g.153816406T>CCA420946118GATAD2Bc.660A>G (p.Glu220=)
c.1083A>G (p.Glu361=)
c.1035A>G (p.Glu345=)
c.337A>G
 dbSNP gnomAD v4
1g.153816406T>GCA342527371GATAD2Bc.660A>C (p.Glu220Asp)
c.1083A>C (p.Glu361Asp)
c.1035A>C (p.Glu345Asp)
c.337A>C
1g.153816406T=CA2480601971GATAD2Bc.660A= (p.Glu220=)
c.1083A= (p.Glu361=)
c.1035A= (p.Glu345=)
c.337A=
1g.153816407T>ACA342527378GATAD2Bc.659A>T (p.Glu220Val)
c.1082A>T (p.Glu361Val)
c.1034A>T (p.Glu345Val)
c.336A>T
1g.153816407T>CCA342527384GATAD2Bc.659A>G (p.Glu220Gly)
c.1082A>G (p.Glu361Gly)
c.1034A>G (p.Glu345Gly)
c.336A>G
1g.153816407T>GCA342527381GATAD2Bc.659A>C (p.Glu220Ala)
c.1082A>C (p.Glu361Ala)
c.1034A>C (p.Glu345Ala)
c.336A>C
1g.153816408C>ACA342527387GATAD2Bc.658G>T (p.Glu220Ter)
c.1081G>T (p.Glu361Ter)
c.1033G>T (p.Glu345Ter)
c.335G>T
1g.153816408C>GCA342527388GATAD2Bc.658G>C (p.Glu220Gln)
c.1081G>C (p.Glu361Gln)
c.1033G>C (p.Glu345Gln)
c.335G>C
1g.153816408C>TCA342527390GATAD2Bc.658G>A (p.Glu220Lys)
c.1081G>A (p.Glu361Lys)
c.1033G>A (p.Glu345Lys)
c.335G>A
1g.153816409C>ACA420946119GATAD2Bc.657G>T (p.Leu219=)
c.1080G>T (p.Leu360=)
c.1032G>T (p.Leu344=)
c.334G>T
1g.153816409C>GCA420946120GATAD2Bc.657G>C (p.Leu219=)
c.1080G>C (p.Leu360=)
c.1032G>C (p.Leu344=)
c.334G>C
1g.153816409C>TCA420946121GATAD2Bc.657G>A (p.Leu219=)
c.1080G>A (p.Leu360=)
c.1032G>A (p.Leu344=)
c.334G>A
 gnomAD v4
1g.153816410A>CCA342527392GATAD2Bc.656T>G (p.Leu219Arg)
c.1079T>G (p.Leu360Arg)
c.1031T>G (p.Leu344Arg)
c.333T>G
1g.153816410A>GCA342527393GATAD2Bc.656T>C (p.Leu219Pro)
c.1079T>C (p.Leu360Pro)
c.1031T>C (p.Leu344Pro)
c.333T>C
1g.153816410A>TCA342527394GATAD2Bc.656T>A (p.Leu219Gln)
c.1079T>A (p.Leu360Gln)
c.1031T>A (p.Leu344Gln)
c.333T>A
1g.153816411G>ACA420946122GATAD2Bc.655C>T (p.Leu219=)
c.1078C>T (p.Leu360=)
c.1030C>T (p.Leu344=)
c.332C>T
1g.153816411G>CCA342527397GATAD2Bc.655C>G (p.Leu219Val)
c.1078C>G (p.Leu360Val)
c.1030C>G (p.Leu344Val)
c.332C>G
1g.153816411G>TCA342527398GATAD2Bc.655C>A (p.Leu219Met)
c.1078C>A (p.Leu360Met)
c.1030C>A (p.Leu344Met)
c.332C>A
1g.153816412C>ACA342527400GATAD2Bc.654G>T (p.Gln218His)
c.1077G>T (p.Gln359His)
c.1029G>T (p.Gln343His)
c.331G>T
1g.153816412C=CA2480601972GATAD2Bc.654G= (p.Gln218=)
c.1077G= (p.Gln359=)
c.1029G= (p.Gln343=)
c.331G=
1g.153816412C>GCA342527402GATAD2Bc.654G>C (p.Gln218His)
c.1077G>C (p.Gln359His)
c.1029G>C (p.Gln343His)
c.331G>C
1g.153816412C>TCA1120703GATAD2Bc.654G>A (p.Gln218=)
c.1077G>A (p.Gln359=)
c.1029G>A (p.Gln343=)
c.331G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.153816413T>ACA342527411GATAD2Bc.653A>T (p.Gln218Leu)
c.1076A>T (p.Gln359Leu)
c.1028A>T (p.Gln343Leu)
c.330A>T
1g.153816413T>CCA342527407GATAD2Bc.653A>G (p.Gln218Arg)
c.1076A>G (p.Gln359Arg)
c.1028A>G (p.Gln343Arg)
c.330A>G
1g.153816413T>GCA342527409GATAD2Bc.653A>C (p.Gln218Pro)
c.1076A>C (p.Gln359Pro)
c.1028A>C (p.Gln343Pro)
c.330A>C
1g.153816414G>ACA342527413GATAD2Bc.652C>T (p.Gln218Ter)
c.1075C>T (p.Gln359Ter)
c.1027C>T (p.Gln343Ter)
c.329C>T
 ClinVar dbSNP
1g.153816414G>CCA342527415GATAD2Bc.652C>G (p.Gln218Glu)
c.1075C>G (p.Gln359Glu)
c.1027C>G (p.Gln343Glu)
c.329C>G
1g.153816414G=CA2480601973GATAD2Bc.652C= (p.Gln218=)
c.1075C= (p.Gln359=)
c.1027C= (p.Gln343=)
c.329C=
1g.153816414G>TCA342527416GATAD2Bc.652C>A (p.Gln218Lys)
c.1075C>A (p.Gln359Lys)
c.1027C>A (p.Gln343Lys)
c.329C>A
1g.153816415T>ACA342527418GATAD2Bc.651A>T (p.Lys217Asn)
c.1074A>T (p.Lys358Asn)
c.1026A>T (p.Lys342Asn)
c.328A>T
1g.153816415T>CCA420946123GATAD2Bc.651A>G (p.Lys217=)
c.1074A>G (p.Lys358=)
c.1026A>G (p.Lys342=)
c.328A>G
 dbSNP gnomAD v2
1g.153816415T>GCA342527420GATAD2Bc.651A>C (p.Lys217Asn)
c.1074A>C (p.Lys358Asn)
c.1026A>C (p.Lys342Asn)
c.328A>C
1g.153816415T=CA2480601974GATAD2Bc.651A= (p.Lys217=)
c.1074A= (p.Lys358=)
c.1026A= (p.Lys342=)
c.328A=
1g.153816416T>ACA342527422GATAD2Bc.650A>T (p.Lys217Ile)
c.1073A>T (p.Lys358Ile)
c.1025A>T (p.Lys342Ile)
c.327A>T
1g.153816416T>CCA342527424GATAD2Bc.650A>G (p.Lys217Arg)
c.1073A>G (p.Lys358Arg)
c.1025A>G (p.Lys342Arg)
c.327A>G
1g.153816416T>GCA342527425GATAD2Bc.650A>C (p.Lys217Thr)
c.1073A>C (p.Lys358Thr)
c.1025A>C (p.Lys342Thr)
c.327A>C
1g.153816417T>ACA342527427GATAD2Bc.649A>T (p.Lys217Ter)
c.1072A>T (p.Lys358Ter)
c.1024A>T (p.Lys342Ter)
c.326A>T
1g.153816417T>CCA342527428GATAD2Bc.649A>G (p.Lys217Glu)
c.1072A>G (p.Lys358Glu)
c.1024A>G (p.Lys342Glu)
c.326A>G
1g.153816417T>GCA342527432GATAD2Bc.649A>C (p.Lys217Gln)
c.1072A>C (p.Lys358Gln)
c.1024A>C (p.Lys342Gln)
c.326A>C
1g.153816418G>ACA420946124GATAD2Bc.648C>T (p.Arg216=)
c.1071C>T (p.Arg357=)
c.1023C>T (p.Arg341=)
c.325C>T
1g.153816418G>CCA420946125GATAD2Bc.648C>G (p.Arg216=)
c.1071C>G (p.Arg357=)
c.1023C>G (p.Arg341=)
c.325C>G
1g.153816418G>TCA420946126GATAD2Bc.648C>A (p.Arg216=)
c.1071C>A (p.Arg357=)
c.1023C>A (p.Arg341=)
c.325C>A
1g.153816419C>ACA342527437GATAD2Bc.647G>T (p.Arg216Leu)
c.1070G>T (p.Arg357Leu)
c.1022G>T (p.Arg341Leu)
c.324G>T
1g.153816419C>GCA342527439GATAD2Bc.647G>C (p.Arg216Pro)
c.1070G>C (p.Arg357Pro)
c.1022G>C (p.Arg341Pro)
c.324G>C
1g.153816419C>TCA342527435GATAD2Bc.647G>A (p.Arg216His)
c.1070G>A (p.Arg357His)
c.1022G>A (p.Arg341His)
c.324G>A
 gnomAD v4
1g.153816420G>ACA342527443GATAD2Bc.646C>T (p.Arg216Cys)
c.1069C>T (p.Arg357Cys)
c.1021C>T (p.Arg341Cys)
c.323C>T
 gnomAD v4
1g.153816420G>CCA342527445GATAD2Bc.646C>G (p.Arg216Gly)
c.1069C>G (p.Arg357Gly)
c.1021C>G (p.Arg341Gly)
c.323C>G
1g.153816420G>TCA342527447GATAD2Bc.646C>A (p.Arg216Ser)
c.1069C>A (p.Arg357Ser)
c.1021C>A (p.Arg341Ser)
c.323C>A
1g.153816421A>CCA420946127GATAD2Bc.645T>G (p.Leu215=)
c.1068T>G (p.Leu356=)
c.1020T>G (p.Leu340=)
c.322T>G
1g.153816421A>GCA420946128GATAD2Bc.645T>C (p.Leu215=)
c.1068T>C (p.Leu356=)
c.1020T>C (p.Leu340=)
c.322T>C
1g.153816421A>TCA420946129GATAD2Bc.645T>A (p.Leu215=)
c.1068T>A (p.Leu356=)
c.1020T>A (p.Leu340=)
c.322T>A
1g.153816422A>CCA342527449GATAD2Bc.644T>G (p.Leu215Arg)
c.1067T>G (p.Leu356Arg)
c.1019T>G (p.Leu340Arg)
c.321T>G
1g.153816422A>GCA342527451GATAD2Bc.644T>C (p.Leu215Pro)
c.1067T>C (p.Leu356Pro)
c.1019T>C (p.Leu340Pro)
c.321T>C
1g.153816422A>TCA342527452GATAD2Bc.644T>A (p.Leu215His)
c.1067T>A (p.Leu356His)
c.1019T>A (p.Leu340His)
c.321T>A
1g.153816423G>ACA342527455GATAD2Bc.643C>T (p.Leu215Phe)
c.1066C>T (p.Leu356Phe)
c.1018C>T (p.Leu340Phe)
c.320C>T
1g.153816423G>CCA342527457GATAD2Bc.643C>G (p.Leu215Val)
c.1066C>G (p.Leu356Val)
c.1018C>G (p.Leu340Val)
c.320C>G
1g.153816423G>TCA342527458GATAD2Bc.643C>A (p.Leu215Ile)
c.1066C>A (p.Leu356Ile)
c.1018C>A (p.Leu340Ile)
c.320C>A
1g.153816424A=CA2480601975GATAD2Bc.642T= (p.Ala214=)
c.1065T= (p.Ala355=)
c.1017T= (p.Ala339=)
c.319T=
1g.153816424A>CCA420946130GATAD2Bc.642T>G (p.Ala214=)
c.1065T>G (p.Ala355=)
c.1017T>G (p.Ala339=)
c.319T>G
1g.153816424A>GCA420946131GATAD2Bc.642T>C (p.Ala214=)
c.1065T>C (p.Ala355=)
c.1017T>C (p.Ala339=)
c.319T>C
 dbSNP gnomAD v3 gnomAD v4
1g.153816424A>TCA420946132GATAD2Bc.642T>A (p.Ala214=)
c.1065T>A (p.Ala355=)
c.1017T>A (p.Ala339=)
c.319T>A
1g.153816425G>ACA1120704GATAD2Bc.641C>T (p.Ala214Val)
c.1064C>T (p.Ala355Val)
c.1016C>T (p.Ala339Val)
c.318C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.153816425G>CCA342527463GATAD2Bc.641C>G (p.Ala214Gly)
c.1064C>G (p.Ala355Gly)
c.1016C>G (p.Ala339Gly)
c.318C>G
1g.153816425G=CA1148872076GATAD2Bc.641C= (p.Ala214=)
c.1064C= (p.Ala355=)
c.1016C= (p.Ala339=)
c.318C=
1g.153816425G>TCA342527465GATAD2Bc.641C>A (p.Ala214Asp)
c.1064C>A (p.Ala355Asp)
c.1016C>A (p.Ala339Asp)
c.318C>A
1g.153816426C>ACA342527469GATAD2Bc.640G>T (p.Ala214Ser)
c.1063G>T (p.Ala355Ser)
c.1015G>T (p.Ala339Ser)
c.317G>T
1g.153816426C>GCA342527471GATAD2Bc.640G>C (p.Ala214Pro)
c.1063G>C (p.Ala355Pro)
c.1015G>C (p.Ala339Pro)
c.317G>C
1g.153816426C>TCA342527467GATAD2Bc.640G>A (p.Ala214Thr)
c.1063G>A (p.Ala355Thr)
c.1015G>A (p.Ala339Thr)
c.317G>A
1g.153816427C>ACA1120705GATAD2Bc.639G>T (p.Leu213Phe)
c.1062G>T (p.Leu354Phe)
c.1014G>T (p.Leu338Phe)
c.316G>T
 dbSNP ExAC gnomAD v4
1g.153816427C=CA2480601976GATAD2Bc.639G= (p.Leu213=)
c.1062G= (p.Leu354=)
c.1014G= (p.Leu338=)
c.316G=
1g.153816427C>GCA342527473GATAD2Bc.639G>C (p.Leu213Phe)
c.1062G>C (p.Leu354Phe)
c.1014G>C (p.Leu338Phe)
c.316G>C
1g.153816427C>TCA420946133GATAD2Bc.639G>A (p.Leu213=)
c.1062G>A (p.Leu354=)
c.1014G>A (p.Leu338=)
c.316G>A
 gnomAD v4
1g.153816428A>CCA342527476GATAD2Bc.638T>G (p.Leu213Trp)
c.1061T>G (p.Leu354Trp)
c.1013T>G (p.Leu338Trp)
c.315T>G
1g.153816428A>GCA342527479GATAD2Bc.638T>C (p.Leu213Ser)
c.1061T>C (p.Leu354Ser)
c.1013T>C (p.Leu338Ser)
c.315T>C
1g.153816428A>TCA342527481GATAD2Bc.638T>A (p.Leu213Ter)
c.1061T>A (p.Leu354Ter)
c.1013T>A (p.Leu338Ter)
c.315T>A
1g.153816429A=CA2480601977GATAD2Bc.637T= (p.Leu213=)
c.1060T= (p.Leu354=)
c.1012T= (p.Leu338=)
c.314T=
1g.153816429A>CCA342527485GATAD2Bc.637T>G (p.Leu213Val)
c.1060T>G (p.Leu354Val)
c.1012T>G (p.Leu338Val)
c.314T>G
1g.153816429A>GCA1120706GATAD2Bc.637T>C (p.Leu213=)
c.1060T>C (p.Leu354=)
c.1012T>C (p.Leu338=)
c.314T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.153816429A>TCA342527484GATAD2Bc.637T>A (p.Leu213Met)
c.1060T>A (p.Leu354Met)
c.1012T>A (p.Leu338Met)
c.314T>A
1g.153816430T>ACA342527486GATAD2Bc.636A>T (p.Lys212Asn)
c.1059A>T (p.Lys353Asn)
c.1011A>T (p.Lys337Asn)
c.313A>T
1g.153816430T>CCA420946134GATAD2Bc.636A>G (p.Lys212=)
c.1059A>G (p.Lys353=)
c.1011A>G (p.Lys337=)
c.313A>G
 gnomAD v4
1g.153816430T>GCA342527488GATAD2Bc.636A>C (p.Lys212Asn)
c.1059A>C (p.Lys353Asn)
c.1011A>C (p.Lys337Asn)
c.313A>C
1g.153816431T>ACA342527491GATAD2Bc.635A>T (p.Lys212Ile)
c.1058A>T (p.Lys353Ile)
c.1010A>T (p.Lys337Ile)
c.312A>T
1g.153816431T>CCA342527494GATAD2Bc.635A>G (p.Lys212Arg)
c.1058A>G (p.Lys353Arg)
c.1010A>G (p.Lys337Arg)
c.312A>G
 dbSNP gnomAD v2 gnomAD v4
1g.153816431T>GCA342527496GATAD2Bc.635A>C (p.Lys212Thr)
c.1058A>C (p.Lys353Thr)
c.1010A>C (p.Lys337Thr)
c.312A>C
1g.153816431T=CA2480601978GATAD2Bc.635A= (p.Lys212=)
c.1058A= (p.Lys353=)
c.1010A= (p.Lys337=)
c.312A=
1g.153816432T>ACA342527502GATAD2Bc.634A>T (p.Lys212Ter)
c.1057A>T (p.Lys353Ter)
c.1009A>T (p.Lys337Ter)
c.311A>T
1g.153816432T>CCA342527500GATAD2Bc.634A>G (p.Lys212Glu)
c.1057A>G (p.Lys353Glu)
c.1009A>G (p.Lys337Glu)
c.311A>G
1g.153816432T>GCA342527497GATAD2Bc.634A>C (p.Lys212Gln)
c.1057A>C (p.Lys353Gln)
c.1009A>C (p.Lys337Gln)
c.311A>C
1g.153816433G>ACA420946136GATAD2Bc.633C>T (p.Ala211=)
c.1056C>T (p.Ala352=)
c.1008C>T (p.Ala336=)
c.310C>T
1g.153816433G>CCA420946137GATAD2Bc.633C>G (p.Ala211=)
c.1056C>G (p.Ala352=)
c.1008C>G (p.Ala336=)
c.310C>G
1g.153816433G>TCA420946135GATAD2Bc.633C>A (p.Ala211=)
c.1056C>A (p.Ala352=)
c.1008C>A (p.Ala336=)
c.310C>A
1g.153816434G>ACA342527506GATAD2Bc.632C>T (p.Ala211Val)
c.1055C>T (p.Ala352Val)
c.1007C>T (p.Ala336Val)
c.309C>T
1g.153816434G>CCA342527510GATAD2Bc.632C>G (p.Ala211Gly)
c.1055C>G (p.Ala352Gly)
c.1007C>G (p.Ala336Gly)
c.309C>G
1g.153816434G>TCA342527508GATAD2Bc.632C>A (p.Ala211Asp)
c.1055C>A (p.Ala352Asp)
c.1007C>A (p.Ala336Asp)
c.309C>A
1g.153816435C>ACA342527513GATAD2Bc.631G>T (p.Ala211Ser)
c.1054G>T (p.Ala352Ser)
c.1006G>T (p.Ala336Ser)
c.308G>T
1g.153816435C>GCA342527515GATAD2Bc.631G>C (p.Ala211Pro)
c.1054G>C (p.Ala352Pro)
c.1006G>C (p.Ala336Pro)
c.308G>C
1g.153816435C>TCA342527518GATAD2Bc.631G>A (p.Ala211Thr)
c.1054G>A (p.Ala352Thr)
c.1006G>A (p.Ala336Thr)
c.308G>A
1g.153816436T>ACA420946138GATAD2Bc.630A>T (p.Ala210=)
c.1053A>T (p.Ala351=)
c.1005A>T (p.Ala335=)
c.307A>T
1g.153816436T>CCA420946140GATAD2Bc.630A>G (p.Ala210=)
c.1053A>G (p.Ala351=)
c.1005A>G (p.Ala335=)
c.307A>G
1g.153816436T>GCA420946139GATAD2Bc.630A>C (p.Ala210=)
c.1053A>C (p.Ala351=)
c.1005A>C (p.Ala335=)
c.307A>C
1g.153816437G>ACA342527521GATAD2Bc.629C>T (p.Ala210Val)
c.1052C>T (p.Ala351Val)
c.1004C>T (p.Ala335Val)
c.306C>T
1g.153816437G>CCA342527523GATAD2Bc.629C>G (p.Ala210Gly)
c.1052C>G (p.Ala351Gly)
c.1004C>G (p.Ala335Gly)
c.306C>G
1g.153816437G>TCA342527525GATAD2Bc.629C>A (p.Ala210Glu)
c.1052C>A (p.Ala351Glu)
c.1004C>A (p.Ala335Glu)
c.306C>A
1g.153816438C>ACA342527527GATAD2Bc.628G>T (p.Ala210Ser)
c.1051G>T (p.Ala351Ser)
c.1003G>T (p.Ala335Ser)
c.305G>T
1g.153816438C>GCA342527529GATAD2Bc.628G>C (p.Ala210Pro)
c.1051G>C (p.Ala351Pro)
c.1003G>C (p.Ala335Pro)
c.305G>C
1g.153816438C>TCA342527531GATAD2Bc.628G>A (p.Ala210Thr)
c.1051G>A (p.Ala351Thr)
c.1003G>A (p.Ala335Thr)
c.305G>A
1g.153816439A>CCA420946141GATAD2Bc.627T>G (p.Ala209=)
c.1050T>G (p.Ala350=)
c.1002T>G (p.Ala334=)
c.304T>G
1g.153816439A>GCA420946142GATAD2Bc.627T>C (p.Ala209=)
c.1050T>C (p.Ala350=)
c.1002T>C (p.Ala334=)
c.304T>C
1g.153816439A>TCA420946143GATAD2Bc.627T>A (p.Ala209=)
c.1050T>A (p.Ala350=)
c.1002T>A (p.Ala334=)
c.304T>A
1g.153816440G>ACA342527534GATAD2Bc.626C>T (p.Ala209Val)
c.1049C>T (p.Ala350Val)
c.1001C>T (p.Ala334Val)
c.303C>T
1g.153816440G>CCA342527536GATAD2Bc.626C>G (p.Ala209Gly)
c.1049C>G (p.Ala350Gly)
c.1001C>G (p.Ala334Gly)
c.303C>G
1g.153816440G>TCA342527538GATAD2Bc.626C>A (p.Ala209Asp)
c.1049C>A (p.Ala350Asp)
c.1001C>A (p.Ala334Asp)
c.303C>A
1g.153816441C>ACA342527546GATAD2Bc.625G>T (p.Ala209Ser)
c.1048G>T (p.Ala350Ser)
c.1000G>T (p.Ala334Ser)
c.302G>T
1g.153816441C>GCA342527542GATAD2Bc.625G>C (p.Ala209Pro)
c.1048G>C (p.Ala350Pro)
c.1000G>C (p.Ala334Pro)
c.302G>C
1g.153816441C>TCA342527544GATAD2Bc.625G>A (p.Ala209Thr)
c.1048G>A (p.Ala350Thr)
c.1000G>A (p.Ala334Thr)
c.302G>A
1g.153816442C>ACA342527548GATAD2Bc.624G>T (p.Gln208His)
c.1047G>T (p.Gln349His)
c.999G>T (p.Gln333His)
c.301G>T
1g.153816442C>GCA342527550GATAD2Bc.624G>C (p.Gln208His)
c.1047G>C (p.Gln349His)
c.999G>C (p.Gln333His)
c.301G>C
1g.153816442C>TCA420946144GATAD2Bc.624G>A (p.Gln208=)
c.1047G>A (p.Gln349=)
c.999G>A (p.Gln333=)
c.301G>A
 gnomAD v4
1g.153816443T>ACA342527551GATAD2Bc.623A>T (p.Gln208Leu)
c.1046A>T (p.Gln349Leu)
c.998A>T (p.Gln333Leu)
c.300A>T
1g.153816443T>CCA342527553GATAD2Bc.623A>G (p.Gln208Arg)
c.1046A>G (p.Gln349Arg)
c.998A>G (p.Gln333Arg)
c.300A>G
1g.153816443T>GCA342527554GATAD2Bc.623A>C (p.Gln208Pro)
c.1046A>C (p.Gln349Pro)
c.998A>C (p.Gln333Pro)
c.300A>C
1g.153816443dupCA645532341GATAD2Bc.623dup (p.Ala209GlyfsTer22)
c.1046dup (p.Ala350GlyfsTer22)
c.998dup (p.Ala334GlyfsTer22)
c.300dup
 COSMIC
1g.153816444G>ACA16603416GATAD2Bc.622C>T (p.Gln208Ter)
c.1045C>T (p.Gln349Ter)
c.997C>T (p.Gln333Ter)
c.299C>T
 ClinVar dbSNP
1g.153816444G>CCA342527557GATAD2Bc.622C>G (p.Gln208Glu)
c.1045C>G (p.Gln349Glu)
c.997C>G (p.Gln333Glu)
c.299C>G
1g.153816444G=CA2480601979GATAD2Bc.622C= (p.Gln208=)
c.1045C= (p.Gln349=)
c.997C= (p.Gln333=)
c.299C=
1g.153816444G>TCA342527559GATAD2Bc.622C>A (p.Gln208Lys)
c.1045C>A (p.Gln349Lys)
c.997C>A (p.Gln333Lys)
c.299C>A
1g.153816445T>ACA420946145GATAD2Bc.621A>T (p.Ser207=)
c.1044A>T (p.Ser348=)
c.996A>T (p.Ser332=)
c.298A>T
1g.153816445T>CCA420946146GATAD2Bc.621A>G (p.Ser207=)
c.1044A>G (p.Ser348=)
c.996A>G (p.Ser332=)
c.298A>G
1g.153816445T>GCA420946147GATAD2Bc.621A>C (p.Ser207=)
c.1044A>C (p.Ser348=)
c.996A>C (p.Ser332=)
c.298A>C
1g.153816446G>ACA342527563GATAD2Bc.620C>T (p.Ser207Leu)
c.1043C>T (p.Ser348Leu)
c.995C>T (p.Ser332Leu)
c.297C>T
1g.153816446G>CCA342527565GATAD2Bc.620C>G (p.Ser207Ter)
c.1043C>G (p.Ser348Ter)
c.995C>G (p.Ser332Ter)
c.297C>G
 ClinVar
1g.153816446G>TCA342527567GATAD2Bc.620C>A (p.Ser207Ter)
c.1043C>A (p.Ser348Ter)
c.995C>A (p.Ser332Ter)
c.297C>A
1g.153816447A>CCA342527575GATAD2Bc.619T>G (p.Ser207Ala)
c.1042T>G (p.Ser348Ala)
c.994T>G (p.Ser332Ala)
c.296T>G
1g.153816447A>GCA342527573GATAD2Bc.619T>C (p.Ser207Pro)
c.1042T>C (p.Ser348Pro)
c.994T>C (p.Ser332Pro)
c.296T>C
1g.153816447A>TCA342527570GATAD2Bc.619T>A (p.Ser207Thr)
c.1042T>A (p.Ser348Thr)
c.994T>A (p.Ser332Thr)
c.296T>A

Number of alleles fetched