Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.6425476T>ACA397394188AIPL1c.1139A>T (p.His380Leu)
c.950A>T (p.His317Leu)
c.*1011A>T (p.=)
c.1073A>T (p.His358Leu)
n.251+8443A>T
c.1103A>T (p.His368Leu)
c.*1110A>T (p.=)
c.959A>T (p.His320Leu)
c.1067A>T (p.His356Leu)
c.*157A>T (p.=)
c.1022A>T (p.His341Leu)
17g.6425476T>CCA397394189AIPL1c.1139A>G (p.His380Arg)
c.950A>G (p.His317Arg)
c.*1011A>G (p.=)
c.1073A>G (p.His358Arg)
n.251+8443A>G
c.1103A>G (p.His368Arg)
c.*1110A>G (p.=)
c.959A>G (p.His320Arg)
c.1067A>G (p.His356Arg)
c.*157A>G (p.=)
c.1022A>G (p.His341Arg)
17g.6425476T>GCA397394190AIPL1c.1139A>C (p.His380Pro)
c.950A>C (p.His317Pro)
c.*1011A>C (p.=)
c.1073A>C (p.His358Pro)
n.251+8443A>C
c.1103A>C (p.His368Pro)
c.*1110A>C (p.=)
c.959A>C (p.His320Pro)
c.1067A>C (p.His356Pro)
c.*157A>C (p.=)
c.1022A>C (p.His341Pro)
17g.6425477G>ACA397394191AIPL1c.1138C>T (p.His380Tyr)
c.949C>T (p.His317Tyr)
c.*1010C>T (p.=)
c.1072C>T (p.His358Tyr)
n.251+8442C>T
c.1102C>T (p.His368Tyr)
c.*1109C>T (p.=)
c.958C>T (p.His320Tyr)
c.1066C>T (p.His356Tyr)
c.*156C>T (p.=)
c.1021C>T (p.His341Tyr)
gnomAD
17g.6425477G>CCA397394192AIPL1c.1138C>G (p.His380Asp)
c.949C>G (p.His317Asp)
c.*1010C>G (p.=)
c.1072C>G (p.His358Asp)
n.251+8442C>G
c.1102C>G (p.His368Asp)
c.*1109C>G (p.=)
c.958C>G (p.His320Asp)
c.1066C>G (p.His356Asp)
c.*156C>G (p.=)
c.1021C>G (p.His341Asp)
17g.6425477G=CA2245346494AIPL1c.1138C= (p.His380=)
c.949C= (p.His317=)
c.*1010C= (p.=)
c.1072C= (p.His358=)
n.251+8442C=
c.1102C= (p.His368=)
c.*1109C= (p.=)
c.958C= (p.His320=)
c.1066C= (p.His356=)
c.*156C= (p.=)
c.1021C= (p.His341=)
17g.6425477G>TCA397394193AIPL1c.1138C>A (p.His380Asn)
c.949C>A (p.His317Asn)
c.*1010C>A (p.=)
c.1072C>A (p.His358Asn)
n.251+8442C>A
c.1102C>A (p.His368Asn)
c.*1109C>A (p.=)
c.958C>A (p.His320Asn)
c.1066C>A (p.His356Asn)
c.*156C>A (p.=)
c.1021C>A (p.His341Asn)
17g.6425478C>ACA497687269AIPL1c.1137G>T (p.Gly379=)
c.948G>T (p.Gly316=)
c.*1009G>T (p.=)
c.1071G>T (p.Gly357=)
n.251+8441G>T
c.1101G>T (p.Gly367=)
c.*1108G>T (p.=)
c.957G>T (p.Gly319=)
c.1065G>T (p.Gly355=)
c.*155G>T (p.=)
c.1020G>T (p.Gly340=)
17g.6425478C>GCA497687270AIPL1c.1137G>C (p.Gly379=)
c.948G>C (p.Gly316=)
c.*1009G>C (p.=)
c.1071G>C (p.Gly357=)
n.251+8441G>C
c.1101G>C (p.Gly367=)
c.*1108G>C (p.=)
c.957G>C (p.Gly319=)
c.1065G>C (p.Gly355=)
c.*155G>C (p.=)
c.1020G>C (p.Gly340=)
17g.6425478C>TCA497687271AIPL1c.1137G>A (p.Gly379=)
c.948G>A (p.Gly316=)
c.*1009G>A (p.=)
c.1071G>A (p.Gly357=)
n.251+8441G>A
c.1101G>A (p.Gly367=)
c.*1108G>A (p.=)
c.957G>A (p.Gly319=)
c.1065G>A (p.Gly355=)
c.*155G>A (p.=)
c.1020G>A (p.Gly340=)
17g.6425479C>ACA397394194AIPL1c.1136G>T (p.Gly379Val)
c.947G>T (p.Gly316Val)
c.*1008G>T (p.=)
c.1070G>T (p.Gly357Val)
n.251+8440G>T
c.1100G>T (p.Gly367Val)
c.*1107G>T (p.=)
c.956G>T (p.Gly319Val)
c.1064G>T (p.Gly355Val)
c.*154G>T (p.=)
c.1019G>T (p.Gly340Val)
17g.6425479C=CA2245346496AIPL1c.1136G= (p.Gly379=)
c.947G= (p.Gly316=)
c.*1008G= (p.=)
c.1070G= (p.Gly357=)
n.251+8440G=
c.1100G= (p.Gly367=)
c.*1107G= (p.=)
c.956G= (p.Gly319=)
c.1064G= (p.Gly355=)
c.*154G= (p.=)
c.1019G= (p.Gly340=)
17g.6425479C>GCA397394195AIPL1c.1136G>C (p.Gly379Ala)
c.947G>C (p.Gly316Ala)
c.*1008G>C (p.=)
c.1070G>C (p.Gly357Ala)
n.251+8440G>C
c.1100G>C (p.Gly367Ala)
c.*1107G>C (p.=)
c.956G>C (p.Gly319Ala)
c.1064G>C (p.Gly355Ala)
c.*154G>C (p.=)
c.1019G>C (p.Gly340Ala)
17g.6425479C>TCA397394196AIPL1c.1136G>A (p.Gly379Glu)
c.947G>A (p.Gly316Glu)
c.*1008G>A (p.=)
c.1070G>A (p.Gly357Glu)
n.251+8440G>A
c.1100G>A (p.Gly367Glu)
c.*1107G>A (p.=)
c.956G>A (p.Gly319Glu)
c.1064G>A (p.Gly355Glu)
c.*154G>A (p.=)
c.1019G>A (p.Gly340Glu)
17g.6425480C>ACA397394197AIPL1c.1135G>T (p.Gly379Trp)
c.946G>T (p.Gly316Trp)
c.*1007G>T (p.=)
c.1069G>T (p.Gly357Trp)
n.251+8439G>T
c.1099G>T (p.Gly367Trp)
c.*1106G>T (p.=)
c.955G>T (p.Gly319Trp)
c.1063G>T (p.Gly355Trp)
c.*153G>T (p.=)
c.1018G>T (p.Gly340Trp)
17g.6425480C=CA2245346498AIPL1c.1135G= (p.Gly379=)
c.946G= (p.Gly316=)
c.*1007G= (p.=)
c.1069G= (p.Gly357=)
n.251+8439G=
c.1099G= (p.Gly367=)
c.*1106G= (p.=)
c.955G= (p.Gly319=)
c.1063G= (p.Gly355=)
c.*153G= (p.=)
c.1018G= (p.Gly340=)
17g.6425480C>GCA287323645AIPL1c.1135G>C (p.Gly379Arg)
c.946G>C (p.Gly316Arg)
c.*1007G>C (p.=)
c.1069G>C (p.Gly357Arg)
n.251+8439G>C
c.1099G>C (p.Gly367Arg)
c.*1106G>C (p.=)
c.955G>C (p.Gly319Arg)
c.1063G>C (p.Gly355Arg)
c.*153G>C (p.=)
c.1018G>C (p.Gly340Arg)
dbSNP gnomAD
17g.6425480C>TCA397394198AIPL1c.1135G>A (p.Gly379Arg)
c.946G>A (p.Gly316Arg)
c.*1007G>A (p.=)
c.1069G>A (p.Gly357Arg)
n.251+8439G>A
c.1099G>A (p.Gly367Arg)
c.*1106G>A (p.=)
c.955G>A (p.Gly319Arg)
c.1063G>A (p.Gly355Arg)
c.*153G>A (p.=)
c.1018G>A (p.Gly340Arg)
gnomAD
17g.6425481T>ACA497687272AIPL1c.1134A>T (p.Pro378=)
c.945A>T (p.Pro315=)
c.*1006A>T (p.=)
c.1068A>T (p.Pro356=)
n.251+8438A>T
c.1098A>T (p.Pro366=)
c.*1105A>T (p.=)
c.954A>T (p.Pro318=)
c.1062A>T (p.Pro354=)
c.*152A>T (p.=)
c.1017A>T (p.Pro339=)
17g.6425481T>CCA497687273AIPL1c.1134A>G (p.Pro378=)
c.945A>G (p.Pro315=)
c.*1006A>G (p.=)
c.1068A>G (p.Pro356=)
n.251+8438A>G
c.1098A>G (p.Pro366=)
c.*1105A>G (p.=)
c.954A>G (p.Pro318=)
c.1062A>G (p.Pro354=)
c.*152A>G (p.=)
c.1017A>G (p.Pro339=)
17g.6425481T>GCA497687274AIPL1c.1134A>C (p.Pro378=)
c.945A>C (p.Pro315=)
c.*1006A>C (p.=)
c.1068A>C (p.Pro356=)
n.251+8438A>C
c.1098A>C (p.Pro366=)
c.*1105A>C (p.=)
c.954A>C (p.Pro318=)
c.1062A>C (p.Pro354=)
c.*152A>C (p.=)
c.1017A>C (p.Pro339=)
17g.6425482G>ACA397394200AIPL1c.1133C>T (p.Pro378Leu)
c.944C>T (p.Pro315Leu)
c.*1005C>T (p.=)
c.1067C>T (p.Pro356Leu)
n.251+8437C>T
c.1097C>T (p.Pro366Leu)
c.*1104C>T (p.=)
c.953C>T (p.Pro318Leu)
c.1061C>T (p.Pro354Leu)
c.*151C>T (p.=)
c.1016C>T (p.Pro339Leu)
17g.6425482G>CCA397394201AIPL1c.1133C>G (p.Pro378Arg)
c.944C>G (p.Pro315Arg)
c.*1005C>G (p.=)
c.1067C>G (p.Pro356Arg)
n.251+8437C>G
c.1097C>G (p.Pro366Arg)
c.*1104C>G (p.=)
c.953C>G (p.Pro318Arg)
c.1061C>G (p.Pro354Arg)
c.*151C>G (p.=)
c.1016C>G (p.Pro339Arg)

Number of alleles fetched