Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.6425482G>TCA397394199AIPL1c.1133C>A (p.Pro378Gln)
c.944C>A (p.Pro315Gln)
c.*1005C>A (p.=)
c.1067C>A (p.Pro356Gln)
n.251+8437C>A
c.1097C>A (p.Pro366Gln)
c.*1104C>A (p.=)
c.953C>A (p.Pro318Gln)
c.1061C>A (p.Pro354Gln)
c.*151C>A (p.=)
c.1016C>A (p.Pro339Gln)
17g.6425483G>ACA397394204AIPL1c.1132C>T (p.Pro378Ser)
c.943C>T (p.Pro315Ser)
c.*1004C>T (p.=)
c.1066C>T (p.Pro356Ser)
n.251+8436C>T
c.1096C>T (p.Pro366Ser)
c.*1103C>T (p.=)
c.952C>T (p.Pro318Ser)
c.1060C>T (p.Pro354Ser)
c.*150C>T (p.=)
c.1015C>T (p.Pro339Ser)
17g.6425483G>CCA397394202AIPL1c.1132C>G (p.Pro378Ala)
c.943C>G (p.Pro315Ala)
c.*1004C>G (p.=)
c.1066C>G (p.Pro356Ala)
n.251+8436C>G
c.1096C>G (p.Pro366Ala)
c.*1103C>G (p.=)
c.952C>G (p.Pro318Ala)
c.1060C>G (p.Pro354Ala)
c.*150C>G (p.=)
c.1015C>G (p.Pro339Ala)
17g.6425483G>TCA397394203AIPL1c.1132C>A (p.Pro378Thr)
c.943C>A (p.Pro315Thr)
c.*1004C>A (p.=)
c.1066C>A (p.Pro356Thr)
n.251+8436C>A
c.1096C>A (p.Pro366Thr)
c.*1103C>A (p.=)
c.952C>A (p.Pro318Thr)
c.1060C>A (p.Pro354Thr)
c.*150C>A (p.=)
c.1015C>A (p.Pro339Thr)
17g.6425484G>ACA8328304AIPL1c.1131C>T (p.Ser377=)
c.942C>T (p.Ser314=)
c.*1003C>T (p.=)
c.1065C>T (p.Ser355=)
n.251+8435C>T
c.1095C>T (p.Ser365=)
c.*1102C>T (p.=)
c.951C>T (p.Ser317=)
c.1059C>T (p.Ser353=)
c.*149C>T (p.=)
c.1014C>T (p.Ser338=)
dbSNP ExAC gnomAD
17g.6425484G>CCA497687277AIPL1c.1131C>G (p.Ser377=)
c.942C>G (p.Ser314=)
c.*1003C>G (p.=)
c.1065C>G (p.Ser355=)
n.251+8435C>G
c.1095C>G (p.Ser365=)
c.*1102C>G (p.=)
c.951C>G (p.Ser317=)
c.1059C>G (p.Ser353=)
c.*149C>G (p.=)
c.1014C>G (p.Ser338=)
17g.6425484G=CA2245346503AIPL1c.1131C= (p.Ser377=)
c.942C= (p.Ser314=)
c.*1003C= (p.=)
c.1065C= (p.Ser355=)
n.251+8435C=
c.1095C= (p.Ser365=)
c.*1102C= (p.=)
c.951C= (p.Ser317=)
c.1059C= (p.Ser353=)
c.*149C= (p.=)
c.1014C= (p.Ser338=)
17g.6425484G>TCA497687276AIPL1c.1131C>A (p.Ser377=)
c.942C>A (p.Ser314=)
c.*1003C>A (p.=)
c.1065C>A (p.Ser355=)
n.251+8435C>A
c.1095C>A (p.Ser365=)
c.*1102C>A (p.=)
c.951C>A (p.Ser317=)
c.1059C>A (p.Ser353=)
c.*149C>A (p.=)
c.1014C>A (p.Ser338=)
17g.6425485G>ACA397394205AIPL1c.1130C>T (p.Ser377Phe)
c.941C>T (p.Ser314Phe)
c.*1002C>T (p.=)
c.1064C>T (p.Ser355Phe)
n.251+8434C>T
c.1094C>T (p.Ser365Phe)
c.*1101C>T (p.=)
c.950C>T (p.Ser317Phe)
c.1058C>T (p.Ser353Phe)
c.*148C>T (p.=)
c.1013C>T (p.Ser338Phe)
17g.6425485G>CCA397394206AIPL1c.1130C>G (p.Ser377Cys)
c.941C>G (p.Ser314Cys)
c.*1002C>G (p.=)
c.1064C>G (p.Ser355Cys)
n.251+8434C>G
c.1094C>G (p.Ser365Cys)
c.*1101C>G (p.=)
c.950C>G (p.Ser317Cys)
c.1058C>G (p.Ser353Cys)
c.*148C>G (p.=)
c.1013C>G (p.Ser338Cys)
17g.6425485G=CA2245346506AIPL1c.1130C= (p.Ser377=)
c.941C= (p.Ser314=)
c.*1002C= (p.=)
c.1064C= (p.Ser355=)
n.251+8434C=
c.1094C= (p.Ser365=)
c.*1101C= (p.=)
c.950C= (p.Ser317=)
c.1058C= (p.Ser353=)
c.*148C= (p.=)
c.1013C= (p.Ser338=)
17g.6425485G>TCA397394207AIPL1c.1130C>A (p.Ser377Tyr)
c.941C>A (p.Ser314Tyr)
c.*1002C>A (p.=)
c.1064C>A (p.Ser355Tyr)
n.251+8434C>A
c.1094C>A (p.Ser365Tyr)
c.*1101C>A (p.=)
c.950C>A (p.Ser317Tyr)
c.1058C>A (p.Ser353Tyr)
c.*148C>A (p.=)
c.1013C>A (p.Ser338Tyr)
gnomAD
17g.6425486A=CA2245346508AIPL1c.1129T= (p.Ser377=)
c.940T= (p.Ser314=)
c.*1001T= (p.=)
c.1063T= (p.Ser355=)
n.251+8433T=
c.1093T= (p.Ser365=)
c.*1100T= (p.=)
c.949T= (p.Ser317=)
c.1057T= (p.Ser353=)
c.*147T= (p.=)
c.1012T= (p.Ser338=)
17g.6425486A>CCA397394208AIPL1c.1129T>G (p.Ser377Ala)
c.940T>G (p.Ser314Ala)
c.*1001T>G (p.=)
c.1063T>G (p.Ser355Ala)
n.251+8433T>G
c.1093T>G (p.Ser365Ala)
c.*1100T>G (p.=)
c.949T>G (p.Ser317Ala)
c.1057T>G (p.Ser353Ala)
c.*147T>G (p.=)
c.1012T>G (p.Ser338Ala)
17g.6425486A>GCA397394209AIPL1c.1129T>C (p.Ser377Pro)
c.940T>C (p.Ser314Pro)
c.*1001T>C (p.=)
c.1063T>C (p.Ser355Pro)
n.251+8433T>C
c.1093T>C (p.Ser365Pro)
c.*1100T>C (p.=)
c.949T>C (p.Ser317Pro)
c.1057T>C (p.Ser353Pro)
c.*147T>C (p.=)
c.1012T>C (p.Ser338Pro)
17g.6425486A>TCA8328305AIPL1c.1129T>A (p.Ser377Thr)
c.940T>A (p.Ser314Thr)
c.*1001T>A (p.=)
c.1063T>A (p.Ser355Thr)
n.251+8433T>A
c.1093T>A (p.Ser365Thr)
c.*1100T>A (p.=)
c.949T>A (p.Ser317Thr)
c.1057T>A (p.Ser353Thr)
c.*147T>A (p.=)
c.1012T>A (p.Ser338Thr)
dbSNP ExAC gnomAD
17g.6425487C>ACA497687278AIPL1c.1128G>T (p.Pro376=)
c.939G>T (p.Pro313=)
c.*1000G>T (p.=)
c.1062G>T (p.Pro354=)
n.251+8432G>T
c.1092G>T (p.Pro364=)
c.*1099G>T (p.=)
c.948G>T (p.Pro316=)
c.1056G>T (p.Pro352=)
c.*146G>T (p.=)
c.1011G>T (p.Pro337=)
17g.6425487C=CA2245346512AIPL1c.1128G= (p.Pro376=)
c.939G= (p.Pro313=)
c.*1000G= (p.=)
c.1062G= (p.Pro354=)
n.251+8432G=
c.1092G= (p.Pro364=)
c.*1099G= (p.=)
c.948G= (p.Pro316=)
c.1056G= (p.Pro352=)
c.*146G= (p.=)
c.1011G= (p.Pro337=)
17g.6425487C>GCA497687280AIPL1c.1128G>C (p.Pro376=)
c.939G>C (p.Pro313=)
c.*1000G>C (p.=)
c.1062G>C (p.Pro354=)
n.251+8432G>C
c.1092G>C (p.Pro364=)
c.*1099G>C (p.=)
c.948G>C (p.Pro316=)
c.1056G>C (p.Pro352=)
c.*146G>C (p.=)
c.1011G>C (p.Pro337=)
17g.6425487C>TCA497687279AIPL1c.1128G>A (p.Pro376=)
c.939G>A (p.Pro313=)
c.*1000G>A (p.=)
c.1062G>A (p.Pro354=)
n.251+8432G>A
c.1092G>A (p.Pro364=)
c.*1099G>A (p.=)
c.948G>A (p.Pro316=)
c.1056G>A (p.Pro352=)
c.*146G>A (p.=)
c.1011G>A (p.Pro337=)
gnomAD
17g.6425487_6425488delinsCGCA2245346511AIPL1c.1127_1128delinsCG (p.Pro376=)
c.938_939delinsCG (p.Pro313=)
c.*999_*1000delinsCG (p.=)
c.1061_1062delinsCG (p.Pro354=)
n.251+8431_251+8432delinsCG
c.1091_1092delinsCG (p.Pro364=)
c.*1098_*1099delinsCG (p.=)
c.947_948delinsCG (p.Pro316=)
c.1055_1056delinsCG (p.Pro352=)
c.*145_*146delinsCG (p.=)
c.1010_1011delinsCG (p.Pro337=)
17g.6425488G>ACA397394210AIPL1c.1127C>T (p.Pro376Leu)
c.938C>T (p.Pro313Leu)
c.*999C>T (p.=)
c.1061C>T (p.Pro354Leu)
n.251+8431C>T
c.1091C>T (p.Pro364Leu)
c.*1098C>T (p.=)
c.947C>T (p.Pro316Leu)
c.1055C>T (p.Pro352Leu)
c.*145C>T (p.=)
c.1010C>T (p.Pro337Leu)
gnomAD
17g.6425488G>CCA397394211AIPL1c.1127C>G (p.Pro376Arg)
c.938C>G (p.Pro313Arg)
c.*999C>G (p.=)
c.1061C>G (p.Pro354Arg)
n.251+8431C>G
c.1091C>G (p.Pro364Arg)
c.*1098C>G (p.=)
c.947C>G (p.Pro316Arg)
c.1055C>G (p.Pro352Arg)
c.*145C>G (p.=)
c.1010C>G (p.Pro337Arg)
gnomAD
17g.6425488G=CA2245346514AIPL1c.1127C= (p.Pro376=)
c.938C= (p.Pro313=)
c.*999C= (p.=)
c.1061C= (p.Pro354=)
n.251+8431C=
c.1091C= (p.Pro364=)
c.*1098C= (p.=)
c.947C= (p.Pro316=)
c.1055C= (p.Pro352=)
c.*145C= (p.=)
c.1010C= (p.Pro337=)

Number of alleles fetched