Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94603338G>TCA2690770906FBP1c.1220C>A (n.1220C>A)
c.*43C>A (n.*43C>A)
 gnomAD v4
9g.94603339T>CCA2690770907FBP1c.1219A>G (n.1219A>G)
c.*42A>G (n.*42A>G)
 gnomAD v4
9g.94603339T>GCA2720387474FBP1c.1219A>C (n.1219A>C)
c.*42A>C (n.*42A>C)
 dbSNP
9g.94603340C=CA1865225068FBP1c.1218G= (n.1218G=)
c.*41G= (n.*41G=)
9g.94603340C>TCA5136040FBP1c.1218G>A (n.1218G>A)
c.*41G>A (n.*41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603341C>ACA2690770908FBP1c.1217G>T (n.1217G>T)
c.*40G>T (n.*40G>T)
 gnomAD v4
9g.94603341C>TCA2579387178FBP1c.1217G>A (n.1217G>A)
c.*40G>A (n.*40G>A)
 gnomAD v4
9g.94603342A>GCA2690770909FBP1c.1216T>C (n.1216T>C)
c.*39T>C (n.*39T>C)
 gnomAD v4
9g.94603342A>TCA2690770910FBP1c.1216T>A (n.1216T>A)
c.*39T>A (n.*39T>A)
 gnomAD v4
9g.94603343G>ACA653182016FBP1c.1215C>T (n.1215C>T)
c.*38C>T (n.*38C>T)
 COSMIC
9g.94603343G>TCA2690770911FBP1c.1215C>A (n.1215C>A)
c.*38C>A (n.*38C>A)
 gnomAD v4
9g.94603344G>TCA2690770912FBP1c.1214C>A (n.1214C>A)
c.*37C>A (n.*37C>A)
 gnomAD v4
9g.94603345T>CCA2690770913FBP1c.1213A>G (n.1213A>G)
c.*36A>G (n.*36A>G)
 gnomAD v4
9g.94603346A>GCA2690770914FBP1c.1212T>C (n.1212T>C)
c.*35T>C (n.*35T>C)
 gnomAD v4
9g.94603346A>TCA2579387180FBP1c.1212T>A (n.1212T>A)
c.*35T>A (n.*35T>A)
9g.94603348_94603349delCA2579387179FBP1c.1211_1212del (n.1211_1212del)
c.*34_*35del (n.*34_*35del)
9g.94603347G>TCA2690770915FBP1c.1211C>A (n.1211C>A)
c.*34C>A (n.*34C>A)
 gnomAD v4
9g.94603348A=CA1865225069FBP1c.1210T= (n.1210T=)
c.*33T= (n.*33T=)
9g.94603348A>CCA589580793FBP1c.1210T>G (n.1210T>G)
c.*33T>G (n.*33T>G)
 dbSNP gnomAD v2 gnomAD v4
9g.94603348A>GCA2690770916FBP1c.1210T>C (n.1210T>C)
c.*33T>C (n.*33T>C)
 gnomAD v4
9g.94603349G>CCA5136041FBP1c.1209C>G (n.1209C>G)
c.*32C>G (n.*32C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603349G=CA1865225070FBP1c.1209C= (n.1209C=)
c.*32C= (n.*32C=)
9g.94603349G>TCA2690770917FBP1c.1209C>A (n.1209C>A)
c.*32C>A (n.*32C>A)
 gnomAD v4
9g.94603350G>ACA5136042FBP1c.1208C>T (n.1208C>T)
c.*31C>T (n.*31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603350G=CA1865225071FBP1c.1208C= (n.1208C=)
c.*31C= (n.*31C=)
9g.94603350G>TCA2690770918FBP1c.1208C>A (n.1208C>A)
c.*31C>A (n.*31C>A)
 gnomAD v4
9g.94603351C>ACA2690770919FBP1c.1207G>T (n.1207G>T)
c.*30G>T (n.*30G>T)
 gnomAD v4
9g.94603353A=CA1865225072FBP1c.1205T= (n.1205T=)
c.*28T= (n.*28T=)
9g.94603353A>GCA5136043FBP1c.1205T>C (n.1205T>C)
c.*28T>C (n.*28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603355T>ACA589580794FBP1c.1203A>T (n.1203A>T)
c.*26A>T (n.*26A>T)
 dbSNP gnomAD v2
9g.94603355T=CA1865225073FBP1c.1203A= (n.1203A=)
c.*26A= (n.*26A=)
9g.94603356C>ACA2690770920FBP1c.1202G>T (n.1202G>T)
c.*25G>T (n.*25G>T)
 gnomAD v4
9g.94603356C=CA1865225074FBP1c.1202G= (n.1202G=)
c.*25G= (n.*25G=)
9g.94603356C>GCA589580795FBP1c.1202G>C (n.1202G>C)
c.*25G>C (n.*25G>C)
 dbSNP gnomAD v2 gnomAD v4
9g.94603357T>ACA2690770921FBP1c.1201A>T (n.1201A>T)
c.*24A>T (n.*24A>T)
 gnomAD v4
9g.94603358C>ACA2690770922FBP1c.1200G>T (n.1200G>T)
c.*23G>T (n.*23G>T)
 gnomAD v4
9g.94603358C=CA1865225075FBP1c.1200G= (n.1200G=)
c.*23G= (n.*23G=)
9g.94603358C>TCA1865225076FBP1c.1200G>A (n.1200G>A)
c.*23G>A (n.*23G>A)
 dbSNP gnomAD v4
9g.94603359C=CA1865225077FBP1c.1199G= (n.1199G=)
c.*22G= (n.*22G=)
9g.94603359C>TCA196550595FBP1c.1199G>A (n.1199G>A)
c.*22G>A (n.*22G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.94603360G>ACA5136044FBP1c.1198C>T (n.1198C>T)
c.*21C>T (n.*21C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603360G>CCA1865225078FBP1c.1198C>G (n.1198C>G)
c.*21C>G (n.*21C>G)
 dbSNP
9g.94603360G=CA1630847875FBP1c.1198C= (n.1198C=)
c.*21C= (n.*21C=)
9g.94603360G>TCA2580883822FBP1c.1198C>A (n.1198C>A)
c.*21C>A (n.*21C>A)
 gnomAD v4
9g.94603360_94603361insACA653182024FBP1c.1197_1198insT (n.1197_1198insT)
c.*20_*21insT (n.*20_*21insT)
9g.94603361G>TCA2690770923FBP1c.1197C>A (n.1197C>A)
c.*20C>A (n.*20C>A)
 gnomAD v4
9g.94603364G>ACA196550599FBP1c.1194C>T (n.1194C>T)
c.*17C>T (n.*17C>T)
 dbSNP gnomAD v4
9g.94603364G=CA1865225079FBP1c.1194C= (n.1194C=)
c.*17C= (n.*17C=)
9g.94603364G>TCA2690770924FBP1c.1194C>A (n.1194C>A)
c.*17C>A (n.*17C>A)
 gnomAD v4
9g.94603369_94603372delCA2690770925FBP1c.1191_1194del (n.1191_1194del)
c.*14_*17del (n.*14_*17del)
 gnomAD v4
9g.94603365C=CA1865225080FBP1c.1193G= (n.1193G=)
c.*16G= (n.*16G=)
9g.94603365C>GCA2690770926FBP1c.1193G>C (n.1193G>C)
c.*16G>C (n.*16G>C)
 gnomAD v4
9g.94603365C>TCA5136045FBP1c.1193G>A (n.1193G>A)
c.*16G>A (n.*16G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603366A>GCA2579387181FBP1c.1192T>C (n.1192T>C)
c.*15T>C (n.*15T>C)
 gnomAD v4
9g.94603373_94603377delCA2690770927FBP1c.1187_1191del (n.1187_1191del)
c.*10_*14del (n.*10_*14del)
 gnomAD v4
9g.94603368G>ACA2579387183FBP1c.1190C>T (n.1190C>T)
c.*13C>T (n.*13C>T)
 gnomAD v4
9g.94603369_94603371delCA2579387182FBP1c.1188_1190del (n.1188_1190del)
c.*11_*13del (n.*11_*13del)
9g.94603369C>ACA2690770928FBP1c.1189G>T (n.1189G>T)
c.*12G>T (n.*12G>T)
 gnomAD v4
9g.94603369C=CA1865225081FBP1c.1189G= (n.1189G=)
c.*12G= (n.*12G=)
9g.94603369C>GCA5136046FBP1c.1189G>C (n.1189G>C)
c.*12G>C (n.*12G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603369C>TCA2579387184FBP1c.1189G>A (n.1189G>A)
c.*12G>A (n.*12G>A)
 gnomAD v4
9g.94603371G>TCA2690770929FBP1c.1187C>A (n.1187C>A)
c.*10C>A (n.*10C>A)
 gnomAD v4
9g.94603372G=CA1865225082FBP1c.1186C= (n.1186C=)
c.*9C= (n.*9C=)
9g.94603372G>TCA5136047FBP1c.1186C>A (n.1186C>A)
c.*9C>A (n.*9C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603373G>ACA2579387185FBP1c.1185C>T (n.1185C>T)
c.*8C>T (n.*8C>T)
9g.94603374C>ACA2690770930FBP1c.1184G>T (n.1184G>T)
c.*7G>T (n.*7G>T)
 gnomAD v4
9g.94603375A=CA1865225083FBP1c.1183T= (n.1183T=)
c.*6T= (n.*6T=)
9g.94603375A>GCA196550628FBP1c.1183T>C (n.1183T>C)
c.*6T>C (n.*6T>C)
 dbSNP
9g.94603376G>ACA1865225085FBP1c.1182C>T (n.1182C>T)
c.*5C>T (n.*5C>T)
 dbSNP gnomAD v4
9g.94603376G=CA1865225084FBP1c.1182C= (n.1182C=)
c.*5C= (n.*5C=)
9g.94603377G>ACA5136048FBP1c.1181C>T (n.1181C>T)
c.*4C>T (n.*4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603377G=CA1865225086FBP1c.1181C= (n.1181C=)
c.*4C= (n.*4C=)
9g.94603377G>TCA589580796FBP1c.1181C>A (n.1181C>A)
c.*4C>A (n.*4C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.94603378T>GCA1865225088FBP1c.1180A>C (n.1180A>C)
c.*3A>C (n.*3A>C)
 dbSNP gnomAD v4
9g.94603378T=CA1865225087FBP1c.1180A= (n.1180A=)
c.*3A= (n.*3A=)
9g.94603378dupCA2579387186FBP1c.1180dup (n.1180dup)
c.*3dup (n.*3dup)
9g.94603379G=CA1865225089FBP1c.1179C= (n.1179C=)
c.*2C= (n.*2C=)
9g.94603379G>TCA589580797FBP1c.1179C>A (n.1179C>A)
c.*2C>A (n.*2C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.94603380C>ACA2690770931FBP1c.1178G>T (n.1178G>T)
c.*1G>T (n.*1G>T)
 gnomAD v4
9g.94603380C=CA1865225090FBP1c.1178G= (n.1178G=)
c.*1G= (n.*1G=)
9g.94603380C>TCA589580798FBP1c.1178G>A (n.1178G>A)
c.*1G>A (n.*1G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.94603381T>ACA374105508FBP1c.1177A>T (n.1177A>T)
c.1017A>T (p.Ter339Cys)
c.822A>T (p.Ter274Cys)
c.771A>T (p.Ter257Cys)
9g.94603381T>CCA374105509FBP1c.1177A>G (n.1177A>G)
c.1017A>G (p.Ter339Trp)
c.822A>G (p.Ter274Trp)
c.771A>G (p.Ter257Trp)
 gnomAD v4
9g.94603381T>GCA374105510FBP1c.1177A>C (n.1177A>C)
c.1017A>C (p.Ter339Cys)
c.822A>C (p.Ter274Cys)
c.771A>C (p.Ter257Cys)
9g.94603382C>ACA374105512FBP1c.1176G>T (n.1176G>T)
c.1016G>T (p.Ter339Leu)
c.821G>T (p.Ter274Leu)
c.770G>T (p.Ter257Leu)
 gnomAD v4
9g.94603382C>GCA374105514FBP1c.1176G>C (n.1176G>C)
c.1016G>C (p.Ter339Ser)
c.821G>C (p.Ter274Ser)
c.770G>C (p.Ter257Ser)
9g.94603382C>TCA466098040FBP1c.1176G>A (n.1176G>A)
c.1016G>A (p.Ter339=)
c.821G>A (p.Ter274=)
c.770G>A (p.Ter257=)
9g.94603383A>CCA374105515FBP1c.1175T>G (n.1175T>G)
c.1015T>G (p.Ter339Gly)
c.820T>G (p.Ter274Gly)
c.769T>G (p.Ter257Gly)
9g.94603383A>GCA374105517FBP1c.1175T>C (n.1175T>C)
c.1015T>C (p.Ter339Arg)
c.820T>C (p.Ter274Arg)
c.769T>C (p.Ter257Arg)
9g.94603383A>TCA374105519FBP1c.1175T>A (n.1175T>A)
c.1015T>A (p.Ter339Arg)
c.820T>A (p.Ter274Arg)
c.769T>A (p.Ter257Arg)
9g.94603384C>ACA374105520FBP1c.1174G>T (n.1174G>T)
c.1014G>T (p.Gln338His)
c.819G>T (p.Gln273His)
c.768G>T (p.Gln256His)
9g.94603384C>GCA374105522FBP1c.1174G>C (n.1174G>C)
c.1014G>C (p.Gln338His)
c.819G>C (p.Gln273His)
c.768G>C (p.Gln256His)
 gnomAD v4
9g.94603384C>TCA466098049FBP1c.1174G>A (n.1174G>A)
c.1014G>A (p.Gln338=)
c.819G>A (p.Gln273=)
c.768G>A (p.Gln256=)
9g.94603385T>ACA374105524FBP1c.1173A>T (n.1173A>T)
c.1013A>T (p.Gln338Leu)
c.818A>T (p.Gln273Leu)
c.767A>T (p.Gln256Leu)
9g.94603385T>CCA374105526FBP1c.1173A>G (n.1173A>G)
c.1013A>G (p.Gln338Arg)
c.818A>G (p.Gln273Arg)
c.767A>G (p.Gln256Arg)
9g.94603385T>GCA5136049FBP1c.1173A>C (n.1173A>C)
c.1013A>C (p.Gln338Pro)
c.818A>C (p.Gln273Pro)
c.767A>C (p.Gln256Pro)
 dbSNP ExAC gnomAD v2
9g.94603385T=CA1865225091FBP1c.1173A= (n.1173A=)
c.1013A= (p.Gln338=)
c.818A= (p.Gln273=)
c.767A= (p.Gln256=)
9g.94603385_94603386delinsTGCA1865225092FBP1c.1172_1173delinsCA (n.1172_1173delinsCA)
c.1012_1013delinsCA (p.Gln338=)
c.817_818delinsCA (p.Gln273=)
c.766_767delinsCA (p.Gln256=)
9g.94603386G>ACA374105527FBP1c.1172C>T (n.1172C>T)
c.1012C>T (p.Gln338Ter)
c.817C>T (p.Gln273Ter)
c.766C>T (p.Gln256Ter)
9g.94603386G>CCA374105528FBP1c.1172C>G (n.1172C>G)
c.1012C>G (p.Gln338Glu)
c.817C>G (p.Gln273Glu)
c.766C>G (p.Gln256Glu)
9g.94603386G>TCA374105529FBP1c.1172C>A (n.1172C>A)
c.1012C>A (p.Gln338Lys)
c.817C>A (p.Gln273Lys)
c.766C>A (p.Gln256Lys)
 gnomAD v4
9g.94603388delCA589580799FBP1c.1172del (n.1172del)
c.1012del (p.Gln338SerfsTer25)
c.817del (p.Gln273SerfsTer25)
c.766del (p.Gln256SerfsTer25)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603387G>ACA466098066FBP1c.1171C>T (n.1171C>T)
c.1011C>T (p.Ala337=)
c.816C>T (p.Ala272=)
c.765C>T (p.Ala255=)
9g.94603387G>CCA466098068FBP1c.1171C>G (n.1171C>G)
c.1011C>G (p.Ala337=)
c.816C>G (p.Ala272=)
c.765C>G (p.Ala255=)
9g.94603387G>TCA466098070FBP1c.1171C>A (n.1171C>A)
c.1011C>A (p.Ala337=)
c.816C>A (p.Ala272=)
c.765C>A (p.Ala255=)
9g.94603388G>ACA374105530FBP1c.1170C>T (n.1170C>T)
c.1010C>T (p.Ala337Val)
c.815C>T (p.Ala272Val)
c.764C>T (p.Ala255Val)
 gnomAD v4
9g.94603388G>CCA374105532FBP1c.1170C>G (n.1170C>G)
c.1010C>G (p.Ala337Gly)
c.815C>G (p.Ala272Gly)
c.764C>G (p.Ala255Gly)
9g.94603388G>TCA374105533FBP1c.1170C>A (n.1170C>A)
c.1010C>A (p.Ala337Asp)
c.815C>A (p.Ala272Asp)
c.764C>A (p.Ala255Asp)
9g.94603389C>ACA374105535FBP1c.1169G>T (n.1169G>T)
c.1009G>T (p.Ala337Ser)
c.814G>T (p.Ala272Ser)
c.763G>T (p.Ala255Ser)
 ClinVar dbSNP
9g.94603389C=CA1865225093FBP1c.1169G= (n.1169G=)
c.1009G= (p.Ala337=)
c.814G= (p.Ala272=)
c.763G= (p.Ala255=)
9g.94603389C>GCA374105537FBP1c.1169G>C (n.1169G>C)
c.1009G>C (p.Ala337Pro)
c.814G>C (p.Ala272Pro)
c.763G>C (p.Ala255Pro)
9g.94603389C>TCA374105538FBP1c.1169G>A (n.1169G>A)
c.1009G>A (p.Ala337Thr)
c.814G>A (p.Ala272Thr)
c.763G>A (p.Ala255Thr)
9g.94603390A=CA1865225094FBP1c.1168T= (n.1168T=)
c.1008T= (p.Ser336=)
c.813T= (p.Ser271=)
c.762T= (p.Ser254=)
9g.94603390A>CCA466098080FBP1c.1168T>G (n.1168T>G)
c.1008T>G (p.Ser336=)
c.813T>G (p.Ser271=)
c.762T>G (p.Ser254=)
9g.94603390A>GCA466098081FBP1c.1168T>C (n.1168T>C)
c.1008T>C (p.Ser336=)
c.813T>C (p.Ser271=)
c.762T>C (p.Ser254=)
 ClinVar gnomAD v4
9g.94603390A>TCA196550646FBP1c.1168T>A (n.1168T>A)
c.1008T>A (p.Ser336=)
c.813T>A (p.Ser271=)
c.762T>A (p.Ser254=)
 dbSNP
9g.94603391G>ACA374105540FBP1c.1167C>T (n.1167C>T)
c.1007C>T (p.Ser336Phe)
c.812C>T (p.Ser271Phe)
c.761C>T (p.Ser254Phe)
9g.94603391G>CCA374105541FBP1c.1167C>G (n.1167C>G)
c.1007C>G (p.Ser336Cys)
c.812C>G (p.Ser271Cys)
c.761C>G (p.Ser254Cys)
9g.94603391G>TCA374105543FBP1c.1167C>A (n.1167C>A)
c.1007C>A (p.Ser336Tyr)
c.812C>A (p.Ser271Tyr)
c.761C>A (p.Ser254Tyr)
9g.94603392A=CA1865225095FBP1c.1166T= (n.1166T=)
c.1006T= (p.Ser336=)
c.811T= (p.Ser271=)
c.760T= (p.Ser254=)
9g.94603392A>CCA374105547FBP1c.1166T>G (n.1166T>G)
c.1006T>G (p.Ser336Ala)
c.811T>G (p.Ser271Ala)
c.760T>G (p.Ser254Ala)
 gnomAD v4
9g.94603392A>GCA374105548FBP1c.1166T>C (n.1166T>C)
c.1006T>C (p.Ser336Pro)
c.811T>C (p.Ser271Pro)
c.760T>C (p.Ser254Pro)
 gnomAD v4
9g.94603392A>TCA374105545FBP1c.1166T>A (n.1166T>A)
c.1006T>A (p.Ser336Thr)
c.811T>A (p.Ser271Thr)
c.760T>A (p.Ser254Thr)
9g.94603393G>ACA466098089FBP1c.1165C>T (n.1165C>T)
c.1005C>T (p.His335=)
c.810C>T (p.His270=)
c.759C>T (p.His253=)
9g.94603393G>CCA374105549FBP1c.1165C>G (n.1165C>G)
c.1005C>G (p.His335Gln)
c.810C>G (p.His270Gln)
c.759C>G (p.His253Gln)
9g.94603393G>TCA374105550FBP1c.1165C>A (n.1165C>A)
c.1005C>A (p.His335Gln)
c.810C>A (p.His270Gln)
c.759C>A (p.His253Gln)
9g.94603394_94603395dupCA868725623FBP1c.1164_1165dup (n.1164_1165dup)
c.1004_1005dup (p.Ser336ThrfsTer28)
c.809_810dup (p.Ser271ThrfsTer28)
c.758_759dup (p.Ser254ThrfsTer28)
 dbSNP gnomAD v4
9g.94603394T>ACA374105551FBP1c.1164A>T (n.1164A>T)
c.1004A>T (p.His335Leu)
c.809A>T (p.His270Leu)
c.758A>T (p.His253Leu)
9g.94603394T>CCA374105553FBP1c.1164A>G (n.1164A>G)
c.1004A>G (p.His335Arg)
c.809A>G (p.His270Arg)
c.758A>G (p.His253Arg)
 gnomAD v4
9g.94603394T>GCA196550651FBP1c.1164A>C (n.1164A>C)
c.1004A>C (p.His335Pro)
c.809A>C (p.His270Pro)
c.758A>C (p.His253Pro)
 dbSNP gnomAD v3 gnomAD v4
9g.94603394T=CA1865225096FBP1c.1164A= (n.1164A=)
c.1004A= (p.His335=)
c.809A= (p.His270=)
c.758A= (p.His253=)
9g.94603395G>ACA374105558FBP1c.1163C>T (n.1163C>T)
c.1003C>T (p.His335Tyr)
c.808C>T (p.His270Tyr)
c.757C>T (p.His253Tyr)
9g.94603395G>CCA374105555FBP1c.1163C>G (n.1163C>G)
c.1003C>G (p.His335Asp)
c.808C>G (p.His270Asp)
c.757C>G (p.His253Asp)
9g.94603395G>TCA374105556FBP1c.1163C>A (n.1163C>A)
c.1003C>A (p.His335Asn)
c.808C>A (p.His270Asn)
c.757C>A (p.His253Asn)
9g.94603396C>ACA374105560FBP1c.1162G>T (n.1162G>T)
c.1002G>T (p.Lys334Asn)
c.807G>T (p.Lys269Asn)
c.756G>T (p.Lys252Asn)
9g.94603396C>GCA374105562FBP1c.1162G>C (n.1162G>C)
c.1002G>C (p.Lys334Asn)
c.807G>C (p.Lys269Asn)
c.756G>C (p.Lys252Asn)
9g.94603396C>TCA466098118FBP1c.1162G>A (n.1162G>A)
c.1002G>A (p.Lys334=)
c.807G>A (p.Lys269=)
c.756G>A (p.Lys252=)
9g.94603397T>ACA374105563FBP1c.1161A>T (n.1161A>T)
c.1001A>T (p.Lys334Met)
c.806A>T (p.Lys269Met)
c.755A>T (p.Lys252Met)
9g.94603397T>CCA5136050FBP1c.1161A>G (n.1161A>G)
c.1001A>G (p.Lys334Arg)
c.806A>G (p.Lys269Arg)
c.755A>G (p.Lys252Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603397T>GCA374105566FBP1c.1161A>C (n.1161A>C)
c.1001A>C (p.Lys334Thr)
c.806A>C (p.Lys269Thr)
c.755A>C (p.Lys252Thr)
9g.94603397T=CA1865225097FBP1c.1161A= (n.1161A=)
c.1001A= (p.Lys334=)
c.806A= (p.Lys269=)
c.755A= (p.Lys252=)
9g.94603398T>ACA374105570FBP1c.1160A>T (n.1160A>T)
c.1000A>T (p.Lys334Ter)
c.805A>T (p.Lys269Ter)
c.754A>T (p.Lys252Ter)
9g.94603398T>CCA374105569FBP1c.1160A>G (n.1160A>G)
c.1000A>G (p.Lys334Glu)
c.805A>G (p.Lys269Glu)
c.754A>G (p.Lys252Glu)
9g.94603398T>GCA374105568FBP1c.1160A>C (n.1160A>C)
c.1000A>C (p.Lys334Gln)
c.805A>C (p.Lys269Gln)
c.754A>C (p.Lys252Gln)
9g.94603399C>ACA374105572FBP1c.1159G>T (n.1159G>T)
c.999G>T (p.Glu333Asp)
c.804G>T (p.Glu268Asp)
c.753G>T (p.Glu251Asp)
9g.94603399C>GCA374105573FBP1c.1159G>C (n.1159G>C)
c.999G>C (p.Glu333Asp)
c.804G>C (p.Glu268Asp)
c.753G>C (p.Glu251Asp)
9g.94603399C>TCA466098128FBP1c.1159G>A (n.1159G>A)
c.999G>A (p.Glu333=)
c.804G>A (p.Glu268=)
c.753G>A (p.Glu251=)
 COSMIC
9g.94603400T>ACA374105575FBP1c.1158A>T (n.1158A>T)
c.998A>T (p.Glu333Val)
c.803A>T (p.Glu268Val)
c.752A>T (p.Glu251Val)
9g.94603400T>CCA5136051FBP1c.1158A>G (n.1158A>G)
c.998A>G (p.Glu333Gly)
c.803A>G (p.Glu268Gly)
c.752A>G (p.Glu251Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603400T>GCA374105577FBP1c.1158A>C (n.1158A>C)
c.998A>C (p.Glu333Ala)
c.803A>C (p.Glu268Ala)
c.752A>C (p.Glu251Ala)
9g.94603400T=CA1865225098FBP1c.1158A= (n.1158A=)
c.998A= (p.Glu333=)
c.803A= (p.Glu268=)
c.752A= (p.Glu251=)
9g.94603401C>ACA374105579FBP1c.1157G>T (n.1157G>T)
c.997G>T (p.Glu333Ter)
c.802G>T (p.Glu268Ter)
c.751G>T (p.Glu251Ter)
9g.94603401C=CA1865225099FBP1c.1157G= (n.1157G=)
c.997G= (p.Glu333=)
c.802G= (p.Glu268=)
c.751G= (p.Glu251=)
9g.94603401C>GCA374105581FBP1c.1157G>C (n.1157G>C)
c.997G>C (p.Glu333Gln)
c.802G>C (p.Glu268Gln)
c.751G>C (p.Glu251Gln)
9g.94603401C>TCA374105582FBP1c.1157G>A (n.1157G>A)
c.997G>A (p.Glu333Lys)
c.802G>A (p.Glu268Lys)
c.751G>A (p.Glu251Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.94603402A=CA1865225100FBP1c.1156T= (n.1156T=)
c.996T= (p.Tyr332=)
c.801T= (p.Tyr267=)
c.750T= (p.Tyr250=)
9g.94603402A>CCA374105584FBP1c.1156T>G (n.1156T>G)
c.996T>G (p.Tyr332Ter)
c.801T>G (p.Tyr267Ter)
c.750T>G (p.Tyr250Ter)
9g.94603402A>GCA466098132FBP1c.1156T>C (n.1156T>C)
c.996T>C (p.Tyr332=)
c.801T>C (p.Tyr267=)
c.750T>C (p.Tyr250=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.94603402A>TCA374105585FBP1c.1156T>A (n.1156T>A)
c.996T>A (p.Tyr332Ter)
c.801T>A (p.Tyr267Ter)
c.750T>A (p.Tyr250Ter)
 dbSNP gnomAD v4
9g.94603403T>ACA374105587FBP1c.1155A>T (n.1155A>T)
c.995A>T (p.Tyr332Phe)
c.800A>T (p.Tyr267Phe)
c.749A>T (p.Tyr250Phe)
9g.94603403T>CCA196550654FBP1c.1155A>G (n.1155A>G)
c.995A>G (p.Tyr332Cys)
c.800A>G (p.Tyr267Cys)
c.749A>G (p.Tyr250Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.94603403T>GCA374105589FBP1c.1155A>C (n.1155A>C)
c.995A>C (p.Tyr332Ser)
c.800A>C (p.Tyr267Ser)
c.749A>C (p.Tyr250Ser)
 gnomAD v4
9g.94603403T=CA1865225101FBP1c.1155A= (n.1155A=)
c.995A= (p.Tyr332=)
c.800A= (p.Tyr267=)
c.749A= (p.Tyr250=)
9g.94603404A>CCA374105590FBP1c.1154T>G (n.1154T>G)
c.994T>G (p.Tyr332Asp)
c.799T>G (p.Tyr267Asp)
c.748T>G (p.Tyr250Asp)
9g.94603404A>GCA374105591FBP1c.1154T>C (n.1154T>C)
c.994T>C (p.Tyr332His)
c.799T>C (p.Tyr267His)
c.748T>C (p.Tyr250His)
9g.94603404A>TCA374105592FBP1c.1154T>A (n.1154T>A)
c.994T>A (p.Tyr332Asn)
c.799T>A (p.Tyr267Asn)
c.748T>A (p.Tyr250Asn)
9g.94603405C>ACA466098149FBP1c.1153G>T (n.1153G>T)
c.993G>T (p.Val331=)
c.798G>T (p.Val266=)
c.747G>T (p.Val249=)
9g.94603405C>GCA466098146FBP1c.1153G>C (n.1153G>C)
c.993G>C (p.Val331=)
c.798G>C (p.Val266=)
c.747G>C (p.Val249=)
9g.94603405C>TCA466098148FBP1c.1153G>A (n.1153G>A)
c.993G>A (p.Val331=)
c.798G>A (p.Val266=)
c.747G>A (p.Val249=)
9g.94603406A=CA1865225102FBP1c.1152T= (n.1152T=)
c.992T= (p.Val331=)
c.797T= (p.Val266=)
c.746T= (p.Val249=)
9g.94603406A>CCA374105598FBP1c.1152T>G (n.1152T>G)
c.992T>G (p.Val331Gly)
c.797T>G (p.Val266Gly)
c.746T>G (p.Val249Gly)
9g.94603406A>GCA374105596FBP1c.1152T>C (n.1152T>C)
c.992T>C (p.Val331Ala)
c.797T>C (p.Val266Ala)
c.746T>C (p.Val249Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.94603406A>TCA374105595FBP1c.1152T>A (n.1152T>A)
c.992T>A (p.Val331Glu)
c.797T>A (p.Val266Glu)
c.746T>A (p.Val249Glu)
9g.94603406_94603409delCA645549420FBP1c.1149_1152del (n.1149_1152del)
c.989_992del (p.Lys330SerfsTer?)
c.794_797del (p.Lys265SerfsTer?)
c.743_746del (p.Lys248SerfsTer?)
 COSMIC
9g.94603407C>ACA374105599FBP1c.1151G>T (n.1151G>T)
c.991G>T (p.Val331Leu)
c.796G>T (p.Val266Leu)
c.745G>T (p.Val249Leu)
9g.94603407C=CA1865225103FBP1c.1151G= (n.1151G=)
c.991G= (p.Val331=)
c.796G= (p.Val266=)
c.745G= (p.Val249=)
9g.94603407C>GCA374105600FBP1c.1151G>C (n.1151G>C)
c.991G>C (p.Val331Leu)
c.796G>C (p.Val266Leu)
c.745G>C (p.Val249Leu)
9g.94603407C>TCA374105602FBP1c.1151G>A (n.1151G>A)
c.991G>A (p.Val331Met)
c.796G>A (p.Val266Met)
c.745G>A (p.Val249Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603408C>ACA374105603FBP1c.1150G>T (n.1150G>T)
c.990G>T (p.Lys330Asn)
c.795G>T (p.Lys265Asn)
c.744G>T (p.Lys248Asn)
9g.94603408C>GCA374105605FBP1c.1150G>C (n.1150G>C)
c.990G>C (p.Lys330Asn)
c.795G>C (p.Lys265Asn)
c.744G>C (p.Lys248Asn)
9g.94603408C>TCA466098151FBP1c.1150G>A (n.1150G>A)
c.990G>A (p.Lys330=)
c.795G>A (p.Lys265=)
c.744G>A (p.Lys248=)
9g.94603409T>ACA374105607FBP1c.1149A>T (n.1149A>T)
c.989A>T (p.Lys330Met)
c.794A>T (p.Lys265Met)
c.743A>T (p.Lys248Met)
9g.94603409T>CCA374105608FBP1c.1149A>G (n.1149A>G)
c.989A>G (p.Lys330Arg)
c.794A>G (p.Lys265Arg)
c.743A>G (p.Lys248Arg)
9g.94603409T>GCA374105610FBP1c.1149A>C (n.1149A>C)
c.989A>C (p.Lys330Thr)
c.794A>C (p.Lys265Thr)
c.743A>C (p.Lys248Thr)
9g.94603410T>ACA374105612FBP1c.1148A>T (n.1148A>T)
c.988A>T (p.Lys330Ter)
c.793A>T (p.Lys265Ter)
c.742A>T (p.Lys248Ter)
9g.94603410T>CCA374105613FBP1c.1148A>G (n.1148A>G)
c.988A>G (p.Lys330Glu)
c.793A>G (p.Lys265Glu)
c.742A>G (p.Lys248Glu)
9g.94603410T>GCA374105614FBP1c.1148A>C (n.1148A>C)
c.988A>C (p.Lys330Gln)
c.793A>C (p.Lys265Gln)
c.742A>C (p.Lys248Gln)
9g.94603411C>ACA466098156FBP1c.1147G>T (n.1147G>T)
c.987G>T (p.Leu329=)
c.792G>T (p.Leu264=)
c.741G>T (p.Leu247=)
9g.94603411C>GCA466098154FBP1c.1147G>C (n.1147G>C)
c.987G>C (p.Leu329=)
c.792G>C (p.Leu264=)
c.741G>C (p.Leu247=)
9g.94603411C>TCA466098157FBP1c.1147G>A (n.1147G>A)
c.987G>A (p.Leu329=)
c.792G>A (p.Leu264=)
c.741G>A (p.Leu247=)
9g.94603412A=CA1865225104FBP1c.1146T= (n.1146T=)
c.986T= (p.Leu329=)
c.791T= (p.Leu264=)
c.740T= (p.Leu247=)
9g.94603412A>CCA374105619FBP1c.1146T>G (n.1146T>G)
c.986T>G (p.Leu329Arg)
c.791T>G (p.Leu264Arg)
c.740T>G (p.Leu247Arg)
9g.94603412A>GCA374105618FBP1c.1146T>C (n.1146T>C)
c.986T>C (p.Leu329Pro)
c.791T>C (p.Leu264Pro)
c.740T>C (p.Leu247Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.94603412A>TCA374105616FBP1c.1146T>A (n.1146T>A)
c.986T>A (p.Leu329Gln)
c.791T>A (p.Leu264Gln)
c.740T>A (p.Leu247Gln)
9g.94603413G>ACA466098162FBP1c.1145C>T (n.1145C>T)
c.985C>T (p.Leu329=)
c.790C>T (p.Leu264=)
c.739C>T (p.Leu247=)
9g.94603413G>CCA374105620FBP1c.1145C>G (n.1145C>G)
c.985C>G (p.Leu329Val)
c.790C>G (p.Leu264Val)
c.739C>G (p.Leu247Val)
9g.94603413G>TCA374105621FBP1c.1145C>A (n.1145C>A)
c.985C>A (p.Leu329Met)
c.790C>A (p.Leu264Met)
c.739C>A (p.Leu247Met)
 ClinVar dbSNP
9g.94603414G>ACA466098166FBP1c.1144C>T (n.1144C>T)
c.984C>T (p.Phe328=)
c.789C>T (p.Phe263=)
c.738C>T (p.Phe246=)
 ClinVar COSMIC
9g.94603414G>CCA374105622FBP1c.1144C>G (n.1144C>G)
c.984C>G (p.Phe328Leu)
c.789C>G (p.Phe263Leu)
c.738C>G (p.Phe246Leu)
 gnomAD v4
9g.94603414G>TCA374105623FBP1c.1144C>A (n.1144C>A)
c.984C>A (p.Phe328Leu)
c.789C>A (p.Phe263Leu)
c.738C>A (p.Phe246Leu)
9g.94603415A=CA1865225105FBP1c.1143T= (n.1143T=)
c.983T= (p.Phe328=)
c.788T= (p.Phe263=)
c.737T= (p.Phe246=)
9g.94603415A>CCA374105624FBP1c.1143T>G (n.1143T>G)
c.983T>G (p.Phe328Cys)
c.788T>G (p.Phe263Cys)
c.737T>G (p.Phe246Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94603415A>GCA374105626FBP1c.1143T>C (n.1143T>C)
c.983T>C (p.Phe328Ser)
c.788T>C (p.Phe263Ser)
c.737T>C (p.Phe246Ser)
9g.94603415A>TCA374105627FBP1c.1143T>A (n.1143T>A)
c.983T>A (p.Phe328Tyr)
c.788T>A (p.Phe263Tyr)
c.737T>A (p.Phe246Tyr)
9g.94603416A=CA1865225106FBP1c.1142T= (n.1142T=)
c.982T= (p.Phe328=)
c.787T= (p.Phe263=)
c.736T= (p.Phe246=)
9g.94603416A>CCA5136052FBP1c.1142T>G (n.1142T>G)
c.982T>G (p.Phe328Val)
c.787T>G (p.Phe263Val)
c.736T>G (p.Phe246Val)
 dbSNP ExAC
9g.94603416A>GCA374105628FBP1c.1142T>C (n.1142T>C)
c.982T>C (p.Phe328Leu)
c.787T>C (p.Phe263Leu)
c.736T>C (p.Phe246Leu)
9g.94603416A>TCA374105629FBP1c.1142T>A (n.1142T>A)
c.982T>A (p.Phe328Ile)
c.787T>A (p.Phe263Ile)
c.736T>A (p.Phe246Ile)
9g.94603417C>ACA374105630FBP1c.1141G>T (n.1141G>T)
c.981G>T (p.Glu327Asp)
c.786G>T (p.Glu262Asp)
c.735G>T (p.Glu245Asp)
9g.94603417C=CA1865225107FBP1c.1141G= (n.1141G=)
c.981G= (p.Glu327=)
c.786G= (p.Glu262=)
c.735G= (p.Glu245=)
9g.94603417C>GCA374105632FBP1c.1141G>C (n.1141G>C)
c.981G>C (p.Glu327Asp)
c.786G>C (p.Glu262Asp)
c.735G>C (p.Glu245Asp)
9g.94603417C>TCA5136053FBP1c.1141G>A (n.1141G>A)
c.981G>A (p.Glu327=)
c.786G>A (p.Glu262=)
c.735G>A (p.Glu245=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603418T>ACA374105634FBP1c.1140A>T (n.1140A>T)
c.980A>T (p.Glu327Val)
c.785A>T (p.Glu262Val)
c.734A>T (p.Glu245Val)
9g.94603418T>CCA374105637FBP1c.1140A>G (n.1140A>G)
c.980A>G (p.Glu327Gly)
c.785A>G (p.Glu262Gly)
c.734A>G (p.Glu245Gly)
9g.94603418T>GCA374105635FBP1c.1140A>C (n.1140A>C)
c.980A>C (p.Glu327Ala)
c.785A>C (p.Glu262Ala)
c.734A>C (p.Glu245Ala)
9g.94603419C>ACA374105639FBP1c.1139G>T (n.1139G>T)
c.979G>T (p.Glu327Ter)
c.784G>T (p.Glu262Ter)
c.733G>T (p.Glu245Ter)
9g.94603419C=CA1865225108FBP1c.1139G= (n.1139G=)
c.979G= (p.Glu327=)
c.784G= (p.Glu262=)
c.733G= (p.Glu245=)
9g.94603419C>GCA374105640FBP1c.1139G>C (n.1139G>C)
c.979G>C (p.Glu327Gln)
c.784G>C (p.Glu262Gln)
c.733G>C (p.Glu245Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.94603419C>TCA5136054FBP1c.1139G>A (n.1139G>A)
c.979G>A (p.Glu327Lys)
c.784G>A (p.Glu262Lys)
c.733G>A (p.Glu245Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603420G>ACA5136055FBP1c.1138C>T (n.1138C>T)
c.978C>T (p.Leu326=)
c.783C>T (p.Leu261=)
c.732C>T (p.Leu244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603420G>CCA196550703FBP1c.1138C>G (n.1138C>G)
c.978C>G (p.Leu326=)
c.783C>G (p.Leu261=)
c.732C>G (p.Leu244=)
 ClinVar dbSNP gnomAD v4
9g.94603420G=CA1865225109FBP1c.1138C= (n.1138C=)
c.978C= (p.Leu326=)
c.783C= (p.Leu261=)
c.732C= (p.Leu244=)
9g.94603420G>TCA466098194FBP1c.1138C>A (n.1138C>A)
c.978C>A (p.Leu326=)
c.783C>A (p.Leu261=)
c.732C>A (p.Leu244=)
9g.94603421A=CA1865225110FBP1c.1137T= (n.1137T=)
c.977T= (p.Leu326=)
c.782T= (p.Leu261=)
c.731T= (p.Leu244=)
9g.94603421A>CCA374105642FBP1c.1137T>G (n.1137T>G)
c.977T>G (p.Leu326Arg)
c.782T>G (p.Leu261Arg)
c.731T>G (p.Leu244Arg)
9g.94603421A>GCA5136056FBP1c.1137T>C (n.1137T>C)
c.977T>C (p.Leu326Pro)
c.782T>C (p.Leu261Pro)
c.731T>C (p.Leu244Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603421A>TCA374105644FBP1c.1137T>A (n.1137T>A)
c.977T>A (p.Leu326His)
c.782T>A (p.Leu261His)
c.731T>A (p.Leu244His)
9g.94603422G>ACA5136057FBP1c.1136C>T (n.1136C>T)
c.976C>T (p.Leu326Phe)
c.781C>T (p.Leu261Phe)
c.730C>T (p.Leu244Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603422G>CCA321798FBP1c.1136C>G (n.1136C>G)
c.976C>G (p.Leu326Val)
c.781C>G (p.Leu261Val)
c.730C>G (p.Leu244Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603422G=CA1865225111FBP1c.1136C= (n.1136C=)
c.976C= (p.Leu326=)
c.781C= (p.Leu261=)
c.730C= (p.Leu244=)
9g.94603422G>TCA374105646FBP1c.1136C>A (n.1136C>A)
c.976C>A (p.Leu326Ile)
c.781C>A (p.Leu261Ile)
c.730C>A (p.Leu244Ile)
 COSMIC
9g.94603423C>ACA466098206FBP1c.1135G>T (n.1135G>T)
c.975G>T (p.Val325=)
c.780G>T (p.Val260=)
c.729G>T (p.Val243=)
9g.94603423C=CA1865225112FBP1c.1135G= (n.1135G=)
c.975G= (p.Val325=)
c.780G= (p.Val260=)
c.729G= (p.Val243=)
9g.94603423C>GCA5136058FBP1c.1135G>C (n.1135G>C)
c.975G>C (p.Val325=)
c.780G>C (p.Val260=)
c.729G>C (p.Val243=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603423C>TCA466098211FBP1c.1135G>A (n.1135G>A)
c.975G>A (p.Val325=)
c.780G>A (p.Val260=)
c.729G>A (p.Val243=)
9g.94603424A>CCA374105649FBP1c.1134T>G (n.1134T>G)
c.974T>G (p.Val325Gly)
c.779T>G (p.Val260Gly)
c.728T>G (p.Val243Gly)
9g.94603424A>GCA374105651FBP1c.1134T>C (n.1134T>C)
c.974T>C (p.Val325Ala)
c.779T>C (p.Val260Ala)
c.728T>C (p.Val243Ala)
9g.94603424A>TCA374105648FBP1c.1134T>A (n.1134T>A)
c.974T>A (p.Val325Glu)
c.779T>A (p.Val260Glu)
c.728T>A (p.Val243Glu)
 gnomAD v4
9g.94603425C>ACA374105654FBP1c.1133G>T (n.1133G>T)
c.973G>T (p.Val325Leu)
c.778G>T (p.Val260Leu)
c.727G>T (p.Val243Leu)
9g.94603425C=CA1865225113FBP1c.1133G= (n.1133G=)
c.973G= (p.Val325=)
c.778G= (p.Val260=)
c.727G= (p.Val243=)
9g.94603425C>GCA374105653FBP1c.1133G>C (n.1133G>C)
c.973G>C (p.Val325Leu)
c.778G>C (p.Val260Leu)
c.727G>C (p.Val243Leu)
9g.94603425C>TCA5136059FBP1c.1133G>A (n.1133G>A)
c.973G>A (p.Val325Met)
c.778G>A (p.Val260Met)
c.727G>A (p.Val243Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603426G>ACA5136060FBP1c.1132C>T (n.1132C>T)
c.972C>T (p.Asp324=)
c.777C>T (p.Asp259=)
c.726C>T (p.Asp242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603426G>CCA374105655FBP1c.1132C>G (n.1132C>G)
c.972C>G (p.Asp324Glu)
c.777C>G (p.Asp259Glu)
c.726C>G (p.Asp242Glu)
 dbSNP
9g.94603426G=CA1865225114FBP1c.1132C= (n.1132C=)
c.972C= (p.Asp324=)
c.777C= (p.Asp259=)
c.726C= (p.Asp242=)
9g.94603426G>TCA374105656FBP1c.1132C>A (n.1132C>A)
c.972C>A (p.Asp324Glu)
c.777C>A (p.Asp259Glu)
c.726C>A (p.Asp242Glu)
9g.94603427T>ACA374105661FBP1c.1131A>T (n.1131A>T)
c.971A>T (p.Asp324Val)
c.776A>T (p.Asp259Val)
c.725A>T (p.Asp242Val)
9g.94603427T>CCA374105660FBP1c.1131A>G (n.1131A>G)
c.971A>G (p.Asp324Gly)
c.776A>G (p.Asp259Gly)
c.725A>G (p.Asp242Gly)
 ClinVar dbSNP
9g.94603427T>GCA374105658FBP1c.1131A>C (n.1131A>C)
c.971A>C (p.Asp324Ala)
c.776A>C (p.Asp259Ala)
c.725A>C (p.Asp242Ala)
9g.94603427T=CA1865225115FBP1c.1131A= (n.1131A=)
c.971A= (p.Asp324=)
c.776A= (p.Asp259=)
c.725A= (p.Asp242=)
9g.94603428C>ACA374105663FBP1c.1130G>T (n.1130G>T)
c.970G>T (p.Asp324Tyr)
c.775G>T (p.Asp259Tyr)
c.724G>T (p.Asp242Tyr)
9g.94603428C=CA1865225116FBP1c.1130G= (n.1130G=)
c.970G= (p.Asp324=)
c.775G= (p.Asp259=)
c.724G= (p.Asp242=)
9g.94603428C>GCA374105664FBP1c.1130G>C (n.1130G>C)
c.970G>C (p.Asp324His)
c.775G>C (p.Asp259His)
c.724G>C (p.Asp242His)
9g.94603428C>TCA324724FBP1c.1130G>A (n.1130G>A)
c.970G>A (p.Asp324Asn)
c.775G>A (p.Asp259Asn)
c.724G>A (p.Asp242Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603429G>ACA5136061FBP1c.1129C>T (n.1129C>T)
c.969C>T (p.Asp323=)
c.774C>T (p.Asp258=)
c.723C>T (p.Asp241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603429G>CCA374105667FBP1c.1129C>G (n.1129C>G)
c.969C>G (p.Asp323Glu)
c.774C>G (p.Asp258Glu)
c.723C>G (p.Asp241Glu)
9g.94603429G=CA1865225117FBP1c.1129C= (n.1129C=)
c.969C= (p.Asp323=)
c.774C= (p.Asp258=)
c.723C= (p.Asp241=)
9g.94603429G>TCA374105668FBP1c.1129C>A (n.1129C>A)
c.969C>A (p.Asp323Glu)
c.774C>A (p.Asp258Glu)
c.723C>A (p.Asp241Glu)
9g.94603430T>ACA374105669FBP1c.1128A>T (n.1128A>T)
c.968A>T (p.Asp323Val)
c.773A>T (p.Asp258Val)
c.722A>T (p.Asp241Val)
9g.94603430T>CCA374105671FBP1c.1128A>G (n.1128A>G)
c.968A>G (p.Asp323Gly)
c.773A>G (p.Asp258Gly)
c.722A>G (p.Asp241Gly)
9g.94603430T>GCA374105670FBP1c.1128A>C (n.1128A>C)
c.968A>C (p.Asp323Ala)
c.773A>C (p.Asp258Ala)
c.722A>C (p.Asp241Ala)
9g.94603431C>ACA374105673FBP1c.1127G>T (n.1127G>T)
c.967G>T (p.Asp323Tyr)
c.772G>T (p.Asp258Tyr)
c.721G>T (p.Asp241Tyr)
9g.94603431C=CA1865225118FBP1c.1127G= (n.1127G=)
c.967G= (p.Asp323=)
c.772G= (p.Asp258=)
c.721G= (p.Asp241=)
9g.94603431C>GCA374105675FBP1c.1127G>C (n.1127G>C)
c.967G>C (p.Asp323His)
c.772G>C (p.Asp258His)
c.721G>C (p.Asp241His)
9g.94603431C>TCA5136063FBP1c.1127G>A (n.1127G>A)
c.967G>A (p.Asp323Asn)
c.772G>A (p.Asp258Asn)
c.721G>A (p.Asp241Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603431_94603432delinsCGCA1865225119FBP1c.1126_1127delinsCG (n.1126_1127delinsCG)
c.966_967delinsCG (p.Pro322=)
c.771_772delinsCG (p.Pro257=)
c.720_721delinsCG (p.Pro240=)
9g.94603432G>ACA466098249FBP1c.1126C>T (n.1126C>T)
c.966C>T (p.Pro322=)
c.771C>T (p.Pro257=)
c.720C>T (p.Pro240=)
 ClinVar dbSNP gnomAD v4
9g.94603432G>CCA466098242FBP1c.1126C>G (n.1126C>G)
c.966C>G (p.Pro322=)
c.771C>G (p.Pro257=)
c.720C>G (p.Pro240=)
 gnomAD v4
9g.94603432G=CA1865225120FBP1c.1126C= (n.1126C=)
c.966C= (p.Pro322=)
c.771C= (p.Pro257=)
c.720C= (p.Pro240=)
9g.94603432G>TCA466098245FBP1c.1126C>A (n.1126C>A)
c.966C>A (p.Pro322=)
c.771C>A (p.Pro257=)
c.720C>A (p.Pro240=)
9g.94603436delCA5136062FBP1c.1126del (n.1126del)
c.966del (p.Asp323ThrfsTer7)
c.771del (p.Asp258ThrfsTer7)
c.720del (p.Asp241ThrfsTer7)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603433G>ACA374105677FBP1c.1125C>T (n.1125C>T)
c.965C>T (p.Pro322Leu)
c.770C>T (p.Pro257Leu)
c.719C>T (p.Pro240Leu)
9g.94603433G>CCA374105679FBP1c.1125C>G (n.1125C>G)
c.965C>G (p.Pro322Arg)
c.770C>G (p.Pro257Arg)
c.719C>G (p.Pro240Arg)
9g.94603433G>TCA374105681FBP1c.1125C>A (n.1125C>A)
c.965C>A (p.Pro322His)
c.770C>A (p.Pro257His)
c.719C>A (p.Pro240His)
9g.94603434G>ACA374105682FBP1c.1124C>T (n.1124C>T)
c.964C>T (p.Pro322Ser)
c.769C>T (p.Pro257Ser)
c.718C>T (p.Pro240Ser)
 gnomAD v4
9g.94603434G>CCA5136064FBP1c.1124C>G (n.1124C>G)
c.964C>G (p.Pro322Ala)
c.769C>G (p.Pro257Ala)
c.718C>G (p.Pro240Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603434G=CA1865225121FBP1c.1124C= (n.1124C=)
c.964C= (p.Pro322=)
c.769C= (p.Pro257=)
c.718C= (p.Pro240=)
9g.94603434G>TCA374105684FBP1c.1124C>A (n.1124C>A)
c.964C>A (p.Pro322Thr)
c.769C>A (p.Pro257Thr)
c.718C>A (p.Pro240Thr)
9g.94603435G>ACA5136065FBP1c.1123C>T (n.1123C>T)
c.963C>T (p.Ser321=)
c.768C>T (p.Ser256=)
c.717C>T (p.Ser239=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603435G>CCA466098262FBP1c.1123C>G (n.1123C>G)
c.963C>G (p.Ser321=)
c.768C>G (p.Ser256=)
c.717C>G (p.Ser239=)
9g.94603435G=CA1865225122FBP1c.1123C= (n.1123C=)
c.963C= (p.Ser321=)
c.768C= (p.Ser256=)
c.717C= (p.Ser239=)
9g.94603435G>TCA466098264FBP1c.1123C>A (n.1123C>A)
c.963C>A (p.Ser321=)
c.768C>A (p.Ser256=)
c.717C>A (p.Ser239=)
9g.94603436G>ACA5136066FBP1c.1122C>T (n.1122C>T)
c.962C>T (p.Ser321Phe)
c.767C>T (p.Ser256Phe)
c.716C>T (p.Ser239Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94603436G>CCA374105688FBP1c.1122C>G (n.1122C>G)
c.962C>G (p.Ser321Cys)
c.767C>G (p.Ser256Cys)
c.716C>G (p.Ser239Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.94603436G=CA1865225123FBP1c.1122C= (n.1122C=)
c.962C= (p.Ser321=)
c.767C= (p.Ser256=)
c.716C= (p.Ser239=)
9g.94603436G>TCA374105686FBP1c.1122C>A (n.1122C>A)
c.962C>A (p.Ser321Tyr)
c.767C>A (p.Ser256Tyr)
c.716C>A (p.Ser239Tyr)
9g.94603437A=CA1865225124FBP1c.1121T= (n.1121T=)
c.961T= (p.Ser321=)
c.766T= (p.Ser256=)
c.715T= (p.Ser239=)
9g.94603437A>CCA374105690FBP1c.1121T>G (n.1121T>G)
c.961T>G (p.Ser321Ala)
c.766T>G (p.Ser256Ala)
c.715T>G (p.Ser239Ala)
9g.94603437A>GCA374105691FBP1c.1121T>C (n.1121T>C)
c.961T>C (p.Ser321Pro)
c.766T>C (p.Ser256Pro)
c.715T>C (p.Ser239Pro)
9g.94603437A>TCA374105693FBP1c.1121T>A (n.1121T>A)
c.961T>A (p.Ser321Thr)
c.766T>A (p.Ser256Thr)
c.715T>A (p.Ser239Thr)
 gnomAD v4
9g.94603437dupCA2690770932FBP1c.1121dup (n.1121dup)
c.961dup (p.Ser321PhefsTer13)
c.766dup (p.Ser256PhefsTer13)
c.715dup (p.Ser239PhefsTer13)
 ClinVar gnomAD v4
9g.94603437_94603438delinsATCA1865225125FBP1c.1120_1121delinsAT (n.1120_1121delinsAT)
c.960_961delinsAT (p.Gly320=)
c.765_766delinsAT (p.Gly255=)
c.714_715delinsAT (p.Gly238=)
9g.94603437_94603438insCCA212752FBP1c.1120_1121insG (n.1120_1121insG)
c.960_961insG (p.Ser321ValfsTer13)
c.765_766insG (p.Ser256ValfsTer13)
c.714_715insG (p.Ser239ValfsTer13)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94603438delCA2739269400FBP1c.1120del (n.1120del)
c.960del (p.Ser321ProfsTer9)
c.765del (p.Ser256ProfsTer9)
c.714del (p.Ser239ProfsTer9)
 ClinVar
9g.94603438T>ACA466098277FBP1c.1120A>T (n.1120A>T)
c.960A>T (p.Gly320=)
c.765A>T (p.Gly255=)
c.714A>T (p.Gly238=)
 dbSNP
9g.94603438T>CCA5136067FBP1c.1120A>G (n.1120A>G)
c.960A>G (p.Gly320=)
c.765A>G (p.Gly255=)
c.714A>G (p.Gly238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94603438T>GCA196550782FBP1c.1120A>C (n.1120A>C)
c.960A>C (p.Gly320=)
c.765A>C (p.Gly255=)
c.714A>C (p.Gly238=)
 dbSNP
9g.94603438T=CA1865225126FBP1c.1120A= (n.1120A=)
c.960A= (p.Gly320=)
c.765A= (p.Gly255=)
c.714A= (p.Gly238=)
9g.94603438delinsCCCA16042673FBP1c.1120delinsGG (n.1120delinsGG)
c.960delinsGG (p.Ser321ValfsTer13)
c.765delinsGG (p.Ser256ValfsTer13)
c.714delinsGG (p.Ser239ValfsTer13)
 ClinVar dbSNP
9g.94603438_94603439delinsCACA2580080677FBP1c.1119_1120delinsTG (n.1119_1120delinsTG)
c.959_960delinsTG (p.Gly320Val)
c.764_765delinsTG (p.Gly255Val)
c.713_714delinsTG (p.Gly238Val)
 ClinVar

Number of alleles fetched