Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6425461C>ACA397394157AIPL1c.1154G>T (p.Ter385Leu)
c.965G>T (p.Ter322Leu)
c.*1026G>T (p.=)
c.1088G>T (p.Ter363Leu)
n.251+8458G>T
c.1118G>T (p.Ter373Leu)
c.*1125G>T (p.=)
c.974G>T (p.Ter325Leu)
c.1082G>T (p.Ter361Leu)
c.*172G>T (p.=)
c.1037G>T (p.Ter346Leu)
17g.6425461C=CA2245346479AIPL1c.1154G= (p.Ter385=)
c.965G= (p.Ter322=)
c.*1026G= (p.=)
c.1088G= (p.Ter363=)
n.251+8458G=
c.1118G= (p.Ter373=)
c.*1125G= (p.=)
c.974G= (p.Ter325=)
c.1082G= (p.Ter361=)
c.*172G= (p.=)
c.1037G= (p.Ter346=)
17g.6425461C>GCA287323640AIPL1c.1154G>C (p.Ter385Ser)
c.965G>C (p.Ter322Ser)
c.*1026G>C (p.=)
c.1088G>C (p.Ter363Ser)
n.251+8458G>C
c.1118G>C (p.Ter373Ser)
c.*1125G>C (p.=)
c.974G>C (p.Ter325Ser)
c.1082G>C (p.Ter361Ser)
c.*172G>C (p.=)
c.1037G>C (p.Ter346Ser)
dbSNP
17g.6425461C>TCA497687257AIPL1c.1154G>A (p.Ter385=)
c.965G>A (p.Ter322=)
c.*1026G>A (p.=)
c.1088G>A (p.Ter363=)
n.251+8458G>A
c.1118G>A (p.Ter373=)
c.*1125G>A (p.=)
c.974G>A (p.Ter325=)
c.1082G>A (p.Ter361=)
c.*172G>A (p.=)
c.1037G>A (p.Ter346=)
17g.6425462A=CA2245346481AIPL1c.1153T= (p.Ter385=)
c.964T= (p.Ter322=)
c.*1025T= (p.=)
c.1087T= (p.Ter363=)
n.251+8457T=
c.1117T= (p.Ter373=)
c.*1124T= (p.=)
c.973T= (p.Ter325=)
c.1081T= (p.Ter361=)
c.*171T= (p.=)
c.1036T= (p.Ter346=)
17g.6425462A>CCA397394160AIPL1c.1153T>G (p.Ter385Gly)
c.964T>G (p.Ter322Gly)
c.*1025T>G (p.=)
c.1087T>G (p.Ter363Gly)
n.251+8457T>G
c.1117T>G (p.Ter373Gly)
c.*1124T>G (p.=)
c.973T>G (p.Ter325Gly)
c.1081T>G (p.Ter361Gly)
c.*171T>G (p.=)
c.1036T>G (p.Ter346Gly)
17g.6425462A>GCA397394159AIPL1c.1153T>C (p.Ter385Arg)
c.964T>C (p.Ter322Arg)
c.*1025T>C (p.=)
c.1087T>C (p.Ter363Arg)
n.251+8457T>C
c.1117T>C (p.Ter373Arg)
c.*1124T>C (p.=)
c.973T>C (p.Ter325Arg)
c.1081T>C (p.Ter361Arg)
c.*171T>C (p.=)
c.1036T>C (p.Ter346Arg)
17g.6425462A>TCA397394158AIPL1c.1153T>A (p.Ter385Arg)
c.964T>A (p.Ter322Arg)
c.*1025T>A (p.=)
c.1087T>A (p.Ter363Arg)
n.251+8457T>A
c.1117T>A (p.Ter373Arg)
c.*1124T>A (p.=)
c.973T>A (p.Ter325Arg)
c.1081T>A (p.Ter361Arg)
c.*171T>A (p.=)
c.1036T>A (p.Ter346Arg)
17g.6425463G>ACA497687258AIPL1c.1152C>T (p.His384=)
c.963C>T (p.His321=)
c.*1024C>T (p.=)
c.1086C>T (p.His362=)
n.251+8456C>T
c.1116C>T (p.His372=)
c.*1123C>T (p.=)
c.972C>T (p.His324=)
c.1080C>T (p.His360=)
c.*170C>T (p.=)
c.1035C>T (p.His345=)
17g.6425463G>CCA397394161AIPL1c.1152C>G (p.His384Gln)
c.963C>G (p.His321Gln)
c.*1024C>G (p.=)
c.1086C>G (p.His362Gln)
n.251+8456C>G
c.1116C>G (p.His372Gln)
c.*1123C>G (p.=)
c.972C>G (p.His324Gln)
c.1080C>G (p.His360Gln)
c.*170C>G (p.=)
c.1035C>G (p.His345Gln)
17g.6425463G>TCA397394162AIPL1c.1152C>A (p.His384Gln)
c.963C>A (p.His321Gln)
c.*1024C>A (p.=)
c.1086C>A (p.His362Gln)
n.251+8456C>A
c.1116C>A (p.His372Gln)
c.*1123C>A (p.=)
c.972C>A (p.His324Gln)
c.1080C>A (p.His360Gln)
c.*170C>A (p.=)
c.1035C>A (p.His345Gln)
17g.6425464T>ACA397394163AIPL1c.1151A>T (p.His384Leu)
c.962A>T (p.His321Leu)
c.*1023A>T (p.=)
c.1085A>T (p.His362Leu)
n.251+8455A>T
c.1115A>T (p.His372Leu)
c.*1122A>T (p.=)
c.971A>T (p.His324Leu)
c.1079A>T (p.His360Leu)
c.*169A>T (p.=)
c.1034A>T (p.His345Leu)
17g.6425464T>CCA397394164AIPL1c.1151A>G (p.His384Arg)
c.962A>G (p.His321Arg)
c.*1023A>G (p.=)
c.1085A>G (p.His362Arg)
n.251+8455A>G
c.1115A>G (p.His372Arg)
c.*1122A>G (p.=)
c.971A>G (p.His324Arg)
c.1079A>G (p.His360Arg)
c.*169A>G (p.=)
c.1034A>G (p.His345Arg)
17g.6425464T>GCA397394165AIPL1c.1151A>C (p.His384Pro)
c.962A>C (p.His321Pro)
c.*1023A>C (p.=)
c.1085A>C (p.His362Pro)
n.251+8455A>C
c.1115A>C (p.His372Pro)
c.*1122A>C (p.=)
c.971A>C (p.His324Pro)
c.1079A>C (p.His360Pro)
c.*169A>C (p.=)
c.1034A>C (p.His345Pro)
17g.6425465G>ACA397394166AIPL1c.1150C>T (p.His384Tyr)
c.961C>T (p.His321Tyr)
c.*1022C>T (p.=)
c.1084C>T (p.His362Tyr)
n.251+8454C>T
c.1114C>T (p.His372Tyr)
c.*1121C>T (p.=)
c.970C>T (p.His324Tyr)
c.1078C>T (p.His360Tyr)
c.*168C>T (p.=)
c.1033C>T (p.His345Tyr)
17g.6425465G>CCA397394167AIPL1c.1150C>G (p.His384Asp)
c.961C>G (p.His321Asp)
c.*1022C>G (p.=)
c.1084C>G (p.His362Asp)
n.251+8454C>G
c.1114C>G (p.His372Asp)
c.*1121C>G (p.=)
c.970C>G (p.His324Asp)
c.1078C>G (p.His360Asp)
c.*168C>G (p.=)
c.1033C>G (p.His345Asp)
17g.6425465G>TCA397394168AIPL1c.1150C>A (p.His384Asn)
c.961C>A (p.His321Asn)
c.*1022C>A (p.=)
c.1084C>A (p.His362Asn)
n.251+8454C>A
c.1114C>A (p.His372Asn)
c.*1121C>A (p.=)
c.970C>A (p.His324Asn)
c.1078C>A (p.His360Asn)
c.*168C>A (p.=)
c.1033C>A (p.His345Asn)
17g.6425466C>ACA397394169AIPL1c.1149G>T (p.Gln383His)
c.960G>T (p.Gln320His)
c.*1021G>T (p.=)
c.1083G>T (p.Gln361His)
n.251+8453G>T
c.1113G>T (p.Gln371His)
c.*1120G>T (p.=)
c.969G>T (p.Gln323His)
c.1077G>T (p.Gln359His)
c.*167G>T (p.=)
c.1032G>T (p.Gln344His)
17g.6425466C>GCA397394170AIPL1c.1149G>C (p.Gln383His)
c.960G>C (p.Gln320His)
c.*1021G>C (p.=)
c.1083G>C (p.Gln361His)
n.251+8453G>C
c.1113G>C (p.Gln371His)
c.*1120G>C (p.=)
c.969G>C (p.Gln323His)
c.1077G>C (p.Gln359His)
c.*167G>C (p.=)
c.1032G>C (p.Gln344His)
17g.6425466C>TCA497687261AIPL1c.1149G>A (p.Gln383=)
c.960G>A (p.Gln320=)
c.*1021G>A (p.=)
c.1083G>A (p.Gln361=)
n.251+8453G>A
c.1113G>A (p.Gln371=)
c.*1120G>A (p.=)
c.969G>A (p.Gln323=)
c.1077G>A (p.Gln359=)
c.*167G>A (p.=)
c.1032G>A (p.Gln344=)
17g.6425467T>ACA397394171AIPL1c.1148A>T (p.Gln383Leu)
c.959A>T (p.Gln320Leu)
c.*1020A>T (p.=)
c.1082A>T (p.Gln361Leu)
n.251+8452A>T
c.1112A>T (p.Gln371Leu)
c.*1119A>T (p.=)
c.968A>T (p.Gln323Leu)
c.1076A>T (p.Gln359Leu)
c.*166A>T (p.=)
c.1031A>T (p.Gln344Leu)
17g.6425467T>CCA397394172AIPL1c.1148A>G (p.Gln383Arg)
c.959A>G (p.Gln320Arg)
c.*1020A>G (p.=)
c.1082A>G (p.Gln361Arg)
n.251+8452A>G
c.1112A>G (p.Gln371Arg)
c.*1119A>G (p.=)
c.968A>G (p.Gln323Arg)
c.1076A>G (p.Gln359Arg)
c.*166A>G (p.=)
c.1031A>G (p.Gln344Arg)
17g.6425467T>GCA397394173AIPL1c.1148A>C (p.Gln383Pro)
c.959A>C (p.Gln320Pro)
c.*1020A>C (p.=)
c.1082A>C (p.Gln361Pro)
n.251+8452A>C
c.1112A>C (p.Gln371Pro)
c.*1119A>C (p.=)
c.968A>C (p.Gln323Pro)
c.1076A>C (p.Gln359Pro)
c.*166A>C (p.=)
c.1031A>C (p.Gln344Pro)
17g.6425468G>ACA397394175AIPL1c.1147C>T (p.Gln383Ter)
c.958C>T (p.Gln320Ter)
c.*1019C>T (p.=)
c.1081C>T (p.Gln361Ter)
n.251+8451C>T
c.1111C>T (p.Gln371Ter)
c.*1118C>T (p.=)
c.967C>T (p.Gln323Ter)
c.1075C>T (p.Gln359Ter)
c.*165C>T (p.=)
c.1030C>T (p.Gln344Ter)
17g.6425468G>CCA397394176AIPL1c.1147C>G (p.Gln383Glu)
c.958C>G (p.Gln320Glu)
c.*1019C>G (p.=)
c.1081C>G (p.Gln361Glu)
n.251+8451C>G
c.1111C>G (p.Gln371Glu)
c.*1118C>G (p.=)
c.967C>G (p.Gln323Glu)
c.1075C>G (p.Gln359Glu)
c.*165C>G (p.=)
c.1030C>G (p.Gln344Glu)
17g.6425468G>TCA397394174AIPL1c.1147C>A (p.Gln383Lys)
c.958C>A (p.Gln320Lys)
c.*1019C>A (p.=)
c.1081C>A (p.Gln361Lys)
n.251+8451C>A
c.1111C>A (p.Gln371Lys)
c.*1118C>A (p.=)
c.967C>A (p.Gln323Lys)
c.1075C>A (p.Gln359Lys)
c.*165C>A (p.=)
c.1030C>A (p.Gln344Lys)
17g.6425469C>ACA497687262AIPL1c.1146G>T (p.Leu382=)
c.957G>T (p.Leu319=)
c.*1018G>T (p.=)
c.1080G>T (p.Leu360=)
n.251+8450G>T
c.1110G>T (p.Leu370=)
c.*1117G>T (p.=)
c.966G>T (p.Leu322=)
c.1074G>T (p.Leu358=)
c.*164G>T (p.=)
c.1029G>T (p.Leu343=)
17g.6425469C>GCA497687264AIPL1c.1146G>C (p.Leu382=)
c.957G>C (p.Leu319=)
c.*1018G>C (p.=)
c.1080G>C (p.Leu360=)
n.251+8450G>C
c.1110G>C (p.Leu370=)
c.*1117G>C (p.=)
c.966G>C (p.Leu322=)
c.1074G>C (p.Leu358=)
c.*164G>C (p.=)
c.1029G>C (p.Leu343=)
17g.6425469C>TCA497687263AIPL1c.1146G>A (p.Leu382=)
c.957G>A (p.Leu319=)
c.*1018G>A (p.=)
c.1080G>A (p.Leu360=)
n.251+8450G>A
c.1110G>A (p.Leu370=)
c.*1117G>A (p.=)
c.966G>A (p.Leu322=)
c.1074G>A (p.Leu358=)
c.*164G>A (p.=)
c.1029G>A (p.Leu343=)
COSMIC
17g.6425470A=CA2245346485AIPL1c.1145T= (p.Leu382=)
c.956T= (p.Leu319=)
c.*1017T= (p.=)
c.1079T= (p.Leu360=)
n.251+8449T=
c.1109T= (p.Leu370=)
c.*1116T= (p.=)
c.965T= (p.Leu322=)
c.1073T= (p.Leu358=)
c.*163T= (p.=)
c.1028T= (p.Leu343=)
17g.6425470A>CCA8328301AIPL1c.1145T>G (p.Leu382Arg)
c.956T>G (p.Leu319Arg)
c.*1017T>G (p.=)
c.1079T>G (p.Leu360Arg)
n.251+8449T>G
c.1109T>G (p.Leu370Arg)
c.*1116T>G (p.=)
c.965T>G (p.Leu322Arg)
c.1073T>G (p.Leu358Arg)
c.*163T>G (p.=)
c.1028T>G (p.Leu343Arg)
dbSNP ExAC gnomAD
17g.6425470A>GCA397394177AIPL1c.1145T>C (p.Leu382Pro)
c.956T>C (p.Leu319Pro)
c.*1017T>C (p.=)
c.1079T>C (p.Leu360Pro)
n.251+8449T>C
c.1109T>C (p.Leu370Pro)
c.*1116T>C (p.=)
c.965T>C (p.Leu322Pro)
c.1073T>C (p.Leu358Pro)
c.*163T>C (p.=)
c.1028T>C (p.Leu343Pro)
17g.6425470A>TCA397394178AIPL1c.1145T>A (p.Leu382Gln)
c.956T>A (p.Leu319Gln)
c.*1017T>A (p.=)
c.1079T>A (p.Leu360Gln)
n.251+8449T>A
c.1109T>A (p.Leu370Gln)
c.*1116T>A (p.=)
c.965T>A (p.Leu322Gln)
c.1073T>A (p.Leu358Gln)
c.*163T>A (p.=)
c.1028T>A (p.Leu343Gln)
ClinVar
17g.6425471G>ACA497687265AIPL1c.1144C>T (p.Leu382=)
c.955C>T (p.Leu319=)
c.*1016C>T (p.=)
c.1078C>T (p.Leu360=)
n.251+8448C>T
c.1108C>T (p.Leu370=)
c.*1115C>T (p.=)
c.964C>T (p.Leu322=)
c.1072C>T (p.Leu358=)
c.*162C>T (p.=)
c.1027C>T (p.Leu343=)
17g.6425471G>CCA397394179AIPL1c.1144C>G (p.Leu382Val)
c.955C>G (p.Leu319Val)
c.*1016C>G (p.=)
c.1078C>G (p.Leu360Val)
n.251+8448C>G
c.1108C>G (p.Leu370Val)
c.*1115C>G (p.=)
c.964C>G (p.Leu322Val)
c.1072C>G (p.Leu358Val)
c.*162C>G (p.=)
c.1027C>G (p.Leu343Val)
17g.6425471G>TCA397394180AIPL1c.1144C>A (p.Leu382Met)
c.955C>A (p.Leu319Met)
c.*1016C>A (p.=)
c.1078C>A (p.Leu360Met)
n.251+8448C>A
c.1108C>A (p.Leu370Met)
c.*1115C>A (p.=)
c.964C>A (p.Leu322Met)
c.1072C>A (p.Leu358Met)
c.*162C>A (p.=)
c.1027C>A (p.Leu343Met)
17g.6425472C>ACA8328302AIPL1c.1143G>T (p.Ser381=)
c.954G>T (p.Ser318=)
c.*1015G>T (p.=)
c.1077G>T (p.Ser359=)
n.251+8447G>T
c.1107G>T (p.Ser369=)
c.*1114G>T (p.=)
c.963G>T (p.Ser321=)
c.1071G>T (p.Ser357=)
c.*161G>T (p.=)
c.1026G>T (p.Ser342=)
dbSNP ExAC gnomAD
17g.6425472C=CA2245346489AIPL1c.1143G= (p.Ser381=)
c.954G= (p.Ser318=)
c.*1015G= (p.=)
c.1077G= (p.Ser359=)
n.251+8447G=
c.1107G= (p.Ser369=)
c.*1114G= (p.=)
c.963G= (p.Ser321=)
c.1071G= (p.Ser357=)
c.*161G= (p.=)
c.1026G= (p.Ser342=)
17g.6425472C>GCA497687266AIPL1c.1143G>C (p.Ser381=)
c.954G>C (p.Ser318=)
c.*1015G>C (p.=)
c.1077G>C (p.Ser359=)
n.251+8447G>C
c.1107G>C (p.Ser369=)
c.*1114G>C (p.=)
c.963G>C (p.Ser321=)
c.1071G>C (p.Ser357=)
c.*161G>C (p.=)
c.1026G>C (p.Ser342=)
17g.6425472C>TCA497687267AIPL1c.1143G>A (p.Ser381=)
c.954G>A (p.Ser318=)
c.*1015G>A (p.=)
c.1077G>A (p.Ser359=)
n.251+8447G>A
c.1107G>A (p.Ser369=)
c.*1114G>A (p.=)
c.963G>A (p.Ser321=)
c.1071G>A (p.Ser357=)
c.*161G>A (p.=)
c.1026G>A (p.Ser342=)
gnomAD
17g.6425473G>ACA397394181AIPL1c.1142C>T (p.Ser381Leu)
c.953C>T (p.Ser318Leu)
c.*1014C>T (p.=)
c.1076C>T (p.Ser359Leu)
n.251+8446C>T
c.1106C>T (p.Ser369Leu)
c.*1113C>T (p.=)
c.962C>T (p.Ser321Leu)
c.1070C>T (p.Ser357Leu)
c.*160C>T (p.=)
c.1025C>T (p.Ser342Leu)
17g.6425473G>CCA8328303AIPL1c.1142C>G (p.Ser381Trp)
c.953C>G (p.Ser318Trp)
c.*1014C>G (p.=)
c.1076C>G (p.Ser359Trp)
n.251+8446C>G
c.1106C>G (p.Ser369Trp)
c.*1113C>G (p.=)
c.962C>G (p.Ser321Trp)
c.1070C>G (p.Ser357Trp)
c.*160C>G (p.=)
c.1025C>G (p.Ser342Trp)
dbSNP ExAC gnomAD
17g.6425473G=CA2245346492AIPL1c.1142C= (p.Ser381=)
c.953C= (p.Ser318=)
c.*1014C= (p.=)
c.1076C= (p.Ser359=)
n.251+8446C=
c.1106C= (p.Ser369=)
c.*1113C= (p.=)
c.962C= (p.Ser321=)
c.1070C= (p.Ser357=)
c.*160C= (p.=)
c.1025C= (p.Ser342=)
17g.6425473G>TCA397394182AIPL1c.1142C>A (p.Ser381Ter)
c.953C>A (p.Ser318Ter)
c.*1014C>A (p.=)
c.1076C>A (p.Ser359Ter)
n.251+8446C>A
c.1106C>A (p.Ser369Ter)
c.*1113C>A (p.=)
c.962C>A (p.Ser321Ter)
c.1070C>A (p.Ser357Ter)
c.*160C>A (p.=)
c.1025C>A (p.Ser342Ter)
17g.6425474A>CCA397394183AIPL1c.1141T>G (p.Ser381Ala)
c.952T>G (p.Ser318Ala)
c.*1013T>G (p.=)
c.1075T>G (p.Ser359Ala)
n.251+8445T>G
c.1105T>G (p.Ser369Ala)
c.*1112T>G (p.=)
c.961T>G (p.Ser321Ala)
c.1069T>G (p.Ser357Ala)
c.*159T>G (p.=)
c.1024T>G (p.Ser342Ala)
17g.6425474A>GCA397394184AIPL1c.1141T>C (p.Ser381Pro)
c.952T>C (p.Ser318Pro)
c.*1013T>C (p.=)
c.1075T>C (p.Ser359Pro)
n.251+8445T>C
c.1105T>C (p.Ser369Pro)
c.*1112T>C (p.=)
c.961T>C (p.Ser321Pro)
c.1069T>C (p.Ser357Pro)
c.*159T>C (p.=)
c.1024T>C (p.Ser342Pro)
COSMIC
17g.6425474A>TCA397394185AIPL1c.1141T>A (p.Ser381Thr)
c.952T>A (p.Ser318Thr)
c.*1013T>A (p.=)
c.1075T>A (p.Ser359Thr)
n.251+8445T>A
c.1105T>A (p.Ser369Thr)
c.*1112T>A (p.=)
c.961T>A (p.Ser321Thr)
c.1069T>A (p.Ser357Thr)
c.*159T>A (p.=)
c.1024T>A (p.Ser342Thr)
17g.6425475G>ACA497687268AIPL1c.1140C>T (p.His380=)
c.951C>T (p.His317=)
c.*1012C>T (p.=)
c.1074C>T (p.His358=)
n.251+8444C>T
c.1104C>T (p.His368=)
c.*1111C>T (p.=)
c.960C>T (p.His320=)
c.1068C>T (p.His356=)
c.*158C>T (p.=)
c.1023C>T (p.His341=)
17g.6425475G>CCA397394187AIPL1c.1140C>G (p.His380Gln)
c.951C>G (p.His317Gln)
c.*1012C>G (p.=)
c.1074C>G (p.His358Gln)
n.251+8444C>G
c.1104C>G (p.His368Gln)
c.*1111C>G (p.=)
c.960C>G (p.His320Gln)
c.1068C>G (p.His356Gln)
c.*158C>G (p.=)
c.1023C>G (p.His341Gln)
17g.6425475G>TCA397394186AIPL1c.1140C>A (p.His380Gln)
c.951C>A (p.His317Gln)
c.*1012C>A (p.=)
c.1074C>A (p.His358Gln)
n.251+8444C>A
c.1104C>A (p.His368Gln)
c.*1111C>A (p.=)
c.960C>A (p.His320Gln)
c.1068C>A (p.His356Gln)
c.*158C>A (p.=)
c.1023C>A (p.His341Gln)

Number of alleles fetched