Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6425480delCA2635688830AIPL1c.1137del (p.His380ThrfsTer?)
c.948del (p.His317ThrfsTer?)
c.*1009del (n.*1009del)
c.1071del (p.His358ThrfsTer?)
c.251+8441del
c.1101del (p.His368ThrfsTer?)
c.*1108del (n.*1108del)
c.957del (p.His320ThrfsTer?)
c.1065del (p.His356ThrfsTer?)
c.*155del (n.*155del)
c.1020del (p.His341ThrfsTer?)
 gnomAD v4
17g.6425480C>ACA397394197AIPL1c.1135G>T (p.Gly379Trp)
c.946G>T (p.Gly316Trp)
c.*1007G>T (n.*1007G>T)
c.1069G>T (p.Gly357Trp)
c.251+8439G>T
c.1099G>T (p.Gly367Trp)
c.*1106G>T (n.*1106G>T)
c.955G>T (p.Gly319Trp)
c.1063G>T (p.Gly355Trp)
c.*153G>T (n.*153G>T)
c.1018G>T (p.Gly340Trp)
17g.6425480C=CA2245346498AIPL1c.1135G= (p.Gly379=)
c.946G= (p.Gly316=)
c.*1007G= (n.*1007G=)
c.1069G= (p.Gly357=)
c.251+8439G=
c.1099G= (p.Gly367=)
c.*1106G= (n.*1106G=)
c.955G= (p.Gly319=)
c.1063G= (p.Gly355=)
c.*153G= (n.*153G=)
c.1018G= (p.Gly340=)
17g.6425480C>GCA287323645AIPL1c.1135G>C (p.Gly379Arg)
c.946G>C (p.Gly316Arg)
c.*1007G>C (n.*1007G>C)
c.1069G>C (p.Gly357Arg)
c.251+8439G>C
c.1099G>C (p.Gly367Arg)
c.*1106G>C (n.*1106G>C)
c.955G>C (p.Gly319Arg)
c.1063G>C (p.Gly355Arg)
c.*153G>C (n.*153G>C)
c.1018G>C (p.Gly340Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6425480C>TCA397394198AIPL1c.1135G>A (p.Gly379Arg)
c.946G>A (p.Gly316Arg)
c.*1007G>A (n.*1007G>A)
c.1069G>A (p.Gly357Arg)
c.251+8439G>A
c.1099G>A (p.Gly367Arg)
c.*1106G>A (n.*1106G>A)
c.955G>A (p.Gly319Arg)
c.1063G>A (p.Gly355Arg)
c.*153G>A (n.*153G>A)
c.1018G>A (p.Gly340Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425481T>ACA497687272AIPL1c.1134A>T (p.Pro378=)
c.945A>T (p.Pro315=)
c.*1006A>T (n.*1006A>T)
c.1068A>T (p.Pro356=)
c.251+8438A>T
c.1098A>T (p.Pro366=)
c.*1105A>T (n.*1105A>T)
c.954A>T (p.Pro318=)
c.1062A>T (p.Pro354=)
c.*152A>T (n.*152A>T)
c.1017A>T (p.Pro339=)
17g.6425481T>CCA497687273AIPL1c.1134A>G (p.Pro378=)
c.945A>G (p.Pro315=)
c.*1006A>G (n.*1006A>G)
c.1068A>G (p.Pro356=)
c.251+8438A>G
c.1098A>G (p.Pro366=)
c.*1105A>G (n.*1105A>G)
c.954A>G (p.Pro318=)
c.1062A>G (p.Pro354=)
c.*152A>G (n.*152A>G)
c.1017A>G (p.Pro339=)
 gnomAD v4
17g.6425481T>GCA497687274AIPL1c.1134A>C (p.Pro378=)
c.945A>C (p.Pro315=)
c.*1006A>C (n.*1006A>C)
c.1068A>C (p.Pro356=)
c.251+8438A>C
c.1098A>C (p.Pro366=)
c.*1105A>C (n.*1105A>C)
c.954A>C (p.Pro318=)
c.1062A>C (p.Pro354=)
c.*152A>C (n.*152A>C)
c.1017A>C (p.Pro339=)
17g.6425482G>ACA397394200AIPL1c.1133C>T (p.Pro378Leu)
c.944C>T (p.Pro315Leu)
c.*1005C>T (n.*1005C>T)
c.1067C>T (p.Pro356Leu)
c.251+8437C>T
c.1097C>T (p.Pro366Leu)
c.*1104C>T (n.*1104C>T)
c.953C>T (p.Pro318Leu)
c.1061C>T (p.Pro354Leu)
c.*151C>T (n.*151C>T)
c.1016C>T (p.Pro339Leu)
 gnomAD v4
17g.6425482G>CCA397394201AIPL1c.1133C>G (p.Pro378Arg)
c.944C>G (p.Pro315Arg)
c.*1005C>G (n.*1005C>G)
c.1067C>G (p.Pro356Arg)
c.251+8437C>G
c.1097C>G (p.Pro366Arg)
c.*1104C>G (n.*1104C>G)
c.953C>G (p.Pro318Arg)
c.1061C>G (p.Pro354Arg)
c.*151C>G (n.*151C>G)
c.1016C>G (p.Pro339Arg)
17g.6425482G>TCA397394199AIPL1c.1133C>A (p.Pro378Gln)
c.944C>A (p.Pro315Gln)
c.*1005C>A (n.*1005C>A)
c.1067C>A (p.Pro356Gln)
c.251+8437C>A
c.1097C>A (p.Pro366Gln)
c.*1104C>A (n.*1104C>A)
c.953C>A (p.Pro318Gln)
c.1061C>A (p.Pro354Gln)
c.*151C>A (n.*151C>A)
c.1016C>A (p.Pro339Gln)
 gnomAD v4
17g.6425485delCA2635688831AIPL1c.1133del (p.Pro378GlnfsTer?)
c.944del (p.Pro315GlnfsTer?)
c.*1005del (n.*1005del)
c.1067del (p.Pro356GlnfsTer?)
c.251+8437del
c.1097del (p.Pro366GlnfsTer?)
c.*1104del (n.*1104del)
c.953del (p.Pro318GlnfsTer?)
c.1061del (p.Pro354GlnfsTer?)
c.*151del (n.*151del)
c.1016del (p.Pro339GlnfsTer?)
 gnomAD v4
17g.6425483G>ACA397394204AIPL1c.1132C>T (p.Pro378Ser)
c.943C>T (p.Pro315Ser)
c.*1004C>T (n.*1004C>T)
c.1066C>T (p.Pro356Ser)
c.251+8436C>T
c.1096C>T (p.Pro366Ser)
c.*1103C>T (n.*1103C>T)
c.952C>T (p.Pro318Ser)
c.1060C>T (p.Pro354Ser)
c.*150C>T (n.*150C>T)
c.1015C>T (p.Pro339Ser)
 ClinVar
17g.6425483G>CCA397394202AIPL1c.1132C>G (p.Pro378Ala)
c.943C>G (p.Pro315Ala)
c.*1004C>G (n.*1004C>G)
c.1066C>G (p.Pro356Ala)
c.251+8436C>G
c.1096C>G (p.Pro366Ala)
c.*1103C>G (n.*1103C>G)
c.952C>G (p.Pro318Ala)
c.1060C>G (p.Pro354Ala)
c.*150C>G (n.*150C>G)
c.1015C>G (p.Pro339Ala)
17g.6425483G>TCA397394203AIPL1c.1132C>A (p.Pro378Thr)
c.943C>A (p.Pro315Thr)
c.*1004C>A (n.*1004C>A)
c.1066C>A (p.Pro356Thr)
c.251+8436C>A
c.1096C>A (p.Pro366Thr)
c.*1103C>A (n.*1103C>A)
c.952C>A (p.Pro318Thr)
c.1060C>A (p.Pro354Thr)
c.*150C>A (n.*150C>A)
c.1015C>A (p.Pro339Thr)
 gnomAD v4
17g.6425484G>ACA8328304AIPL1c.1131C>T (p.Ser377=)
c.942C>T (p.Ser314=)
c.*1003C>T (n.*1003C>T)
c.1065C>T (p.Ser355=)
c.251+8435C>T
c.1095C>T (p.Ser365=)
c.*1102C>T (n.*1102C>T)
c.951C>T (p.Ser317=)
c.1059C>T (p.Ser353=)
c.*149C>T (n.*149C>T)
c.1014C>T (p.Ser338=)
 dbSNP ExAC gnomAD v2
17g.6425484G>CCA497687277AIPL1c.1131C>G (p.Ser377=)
c.942C>G (p.Ser314=)
c.*1003C>G (n.*1003C>G)
c.1065C>G (p.Ser355=)
c.251+8435C>G
c.1095C>G (p.Ser365=)
c.*1102C>G (n.*1102C>G)
c.951C>G (p.Ser317=)
c.1059C>G (p.Ser353=)
c.*149C>G (n.*149C>G)
c.1014C>G (p.Ser338=)
17g.6425484G=CA2245346503AIPL1c.1131C= (p.Ser377=)
c.942C= (p.Ser314=)
c.*1003C= (n.*1003C=)
c.1065C= (p.Ser355=)
c.251+8435C=
c.1095C= (p.Ser365=)
c.*1102C= (n.*1102C=)
c.951C= (p.Ser317=)
c.1059C= (p.Ser353=)
c.*149C= (n.*149C=)
c.1014C= (p.Ser338=)
17g.6425484G>TCA497687276AIPL1c.1131C>A (p.Ser377=)
c.942C>A (p.Ser314=)
c.*1003C>A (n.*1003C>A)
c.1065C>A (p.Ser355=)
c.251+8435C>A
c.1095C>A (p.Ser365=)
c.*1102C>A (n.*1102C>A)
c.951C>A (p.Ser317=)
c.1059C>A (p.Ser353=)
c.*149C>A (n.*149C>A)
c.1014C>A (p.Ser338=)
 gnomAD v4
17g.6425485G>ACA397394205AIPL1c.1130C>T (p.Ser377Phe)
c.941C>T (p.Ser314Phe)
c.*1002C>T (n.*1002C>T)
c.1064C>T (p.Ser355Phe)
c.251+8434C>T
c.1094C>T (p.Ser365Phe)
c.*1101C>T (n.*1101C>T)
c.950C>T (p.Ser317Phe)
c.1058C>T (p.Ser353Phe)
c.*148C>T (n.*148C>T)
c.1013C>T (p.Ser338Phe)
17g.6425485G>CCA397394206AIPL1c.1130C>G (p.Ser377Cys)
c.941C>G (p.Ser314Cys)
c.*1002C>G (n.*1002C>G)
c.1064C>G (p.Ser355Cys)
c.251+8434C>G
c.1094C>G (p.Ser365Cys)
c.*1101C>G (n.*1101C>G)
c.950C>G (p.Ser317Cys)
c.1058C>G (p.Ser353Cys)
c.*148C>G (n.*148C>G)
c.1013C>G (p.Ser338Cys)
17g.6425485G=CA2245346506AIPL1c.1130C= (p.Ser377=)
c.941C= (p.Ser314=)
c.*1002C= (n.*1002C=)
c.1064C= (p.Ser355=)
c.251+8434C=
c.1094C= (p.Ser365=)
c.*1101C= (n.*1101C=)
c.950C= (p.Ser317=)
c.1058C= (p.Ser353=)
c.*148C= (n.*148C=)
c.1013C= (p.Ser338=)
17g.6425485G>TCA397394207AIPL1c.1130C>A (p.Ser377Tyr)
c.941C>A (p.Ser314Tyr)
c.*1002C>A (n.*1002C>A)
c.1064C>A (p.Ser355Tyr)
c.251+8434C>A
c.1094C>A (p.Ser365Tyr)
c.*1101C>A (n.*1101C>A)
c.950C>A (p.Ser317Tyr)
c.1058C>A (p.Ser353Tyr)
c.*148C>A (n.*148C>A)
c.1013C>A (p.Ser338Tyr)
 dbSNP gnomAD v2 gnomAD v4
17g.6425486A=CA2245346508AIPL1c.1129T= (p.Ser377=)
c.940T= (p.Ser314=)
c.*1001T= (n.*1001T=)
c.1063T= (p.Ser355=)
c.251+8433T=
c.1093T= (p.Ser365=)
c.*1100T= (n.*1100T=)
c.949T= (p.Ser317=)
c.1057T= (p.Ser353=)
c.*147T= (n.*147T=)
c.1012T= (p.Ser338=)
17g.6425486A>CCA397394208AIPL1c.1129T>G (p.Ser377Ala)
c.940T>G (p.Ser314Ala)
c.*1001T>G (n.*1001T>G)
c.1063T>G (p.Ser355Ala)
c.251+8433T>G
c.1093T>G (p.Ser365Ala)
c.*1100T>G (n.*1100T>G)
c.949T>G (p.Ser317Ala)
c.1057T>G (p.Ser353Ala)
c.*147T>G (n.*147T>G)
c.1012T>G (p.Ser338Ala)
17g.6425486A>GCA397394209AIPL1c.1129T>C (p.Ser377Pro)
c.940T>C (p.Ser314Pro)
c.*1001T>C (n.*1001T>C)
c.1063T>C (p.Ser355Pro)
c.251+8433T>C
c.1093T>C (p.Ser365Pro)
c.*1100T>C (n.*1100T>C)
c.949T>C (p.Ser317Pro)
c.1057T>C (p.Ser353Pro)
c.*147T>C (n.*147T>C)
c.1012T>C (p.Ser338Pro)
17g.6425486A>TCA8328305AIPL1c.1129T>A (p.Ser377Thr)
c.940T>A (p.Ser314Thr)
c.*1001T>A (n.*1001T>A)
c.1063T>A (p.Ser355Thr)
c.251+8433T>A
c.1093T>A (p.Ser365Thr)
c.*1100T>A (n.*1100T>A)
c.949T>A (p.Ser317Thr)
c.1057T>A (p.Ser353Thr)
c.*147T>A (n.*147T>A)
c.1012T>A (p.Ser338Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425487C>ACA497687278AIPL1c.1128G>T (p.Pro376=)
c.939G>T (p.Pro313=)
c.*1000G>T (n.*1000G>T)
c.1062G>T (p.Pro354=)
c.251+8432G>T
c.1092G>T (p.Pro364=)
c.*1099G>T (n.*1099G>T)
c.948G>T (p.Pro316=)
c.1056G>T (p.Pro352=)
c.*146G>T (n.*146G>T)
c.1011G>T (p.Pro337=)
17g.6425487C=CA2245346512AIPL1c.1128G= (p.Pro376=)
c.939G= (p.Pro313=)
c.*1000G= (n.*1000G=)
c.1062G= (p.Pro354=)
c.251+8432G=
c.1092G= (p.Pro364=)
c.*1099G= (n.*1099G=)
c.948G= (p.Pro316=)
c.1056G= (p.Pro352=)
c.*146G= (n.*146G=)
c.1011G= (p.Pro337=)
17g.6425487C>GCA497687280AIPL1c.1128G>C (p.Pro376=)
c.939G>C (p.Pro313=)
c.*1000G>C (n.*1000G>C)
c.1062G>C (p.Pro354=)
c.251+8432G>C
c.1092G>C (p.Pro364=)
c.*1099G>C (n.*1099G>C)
c.948G>C (p.Pro316=)
c.1056G>C (p.Pro352=)
c.*146G>C (n.*146G>C)
c.1011G>C (p.Pro337=)
17g.6425487C>TCA497687279AIPL1c.1128G>A (p.Pro376=)
c.939G>A (p.Pro313=)
c.*1000G>A (n.*1000G>A)
c.1062G>A (p.Pro354=)
c.251+8432G>A
c.1092G>A (p.Pro364=)
c.*1099G>A (n.*1099G>A)
c.948G>A (p.Pro316=)
c.1056G>A (p.Pro352=)
c.*146G>A (n.*146G>A)
c.1011G>A (p.Pro337=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425487_6425488delinsCGCA2245346511AIPL1c.1127_1128delinsCG (p.Pro376=)
c.938_939delinsCG (p.Pro313=)
c.*999_*1000delinsCG (n.*999_*1000delinsCG)
c.1061_1062delinsCG (p.Pro354=)
c.251+8431_251+8432delinsCG
c.1091_1092delinsCG (p.Pro364=)
c.*1098_*1099delinsCG (n.*1098_*1099delinsCG)
c.947_948delinsCG (p.Pro316=)
c.1055_1056delinsCG (p.Pro352=)
c.*145_*146delinsCG (n.*145_*146delinsCG)
c.1010_1011delinsCG (p.Pro337=)
17g.6425488G>ACA397394210AIPL1c.1127C>T (p.Pro376Leu)
c.938C>T (p.Pro313Leu)
c.*999C>T (n.*999C>T)
c.1061C>T (p.Pro354Leu)
c.251+8431C>T
c.1091C>T (p.Pro364Leu)
c.*1098C>T (n.*1098C>T)
c.947C>T (p.Pro316Leu)
c.1055C>T (p.Pro352Leu)
c.*145C>T (n.*145C>T)
c.1010C>T (p.Pro337Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425488G>CCA397394211AIPL1c.1127C>G (p.Pro376Arg)
c.938C>G (p.Pro313Arg)
c.*999C>G (n.*999C>G)
c.1061C>G (p.Pro354Arg)
c.251+8431C>G
c.1091C>G (p.Pro364Arg)
c.*1098C>G (n.*1098C>G)
c.947C>G (p.Pro316Arg)
c.1055C>G (p.Pro352Arg)
c.*145C>G (n.*145C>G)
c.1010C>G (p.Pro337Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.6425488G=CA2245346514AIPL1c.1127C= (p.Pro376=)
c.938C= (p.Pro313=)
c.*999C= (n.*999C=)
c.1061C= (p.Pro354=)
c.251+8431C=
c.1091C= (p.Pro364=)
c.*1098C= (n.*1098C=)
c.947C= (p.Pro316=)
c.1055C= (p.Pro352=)
c.*145C= (n.*145C=)
c.1010C= (p.Pro337=)
17g.6425488G>TCA397394212AIPL1c.1127C>A (p.Pro376Gln)
c.938C>A (p.Pro313Gln)
c.*999C>A (n.*999C>A)
c.1061C>A (p.Pro354Gln)
c.251+8431C>A
c.1091C>A (p.Pro364Gln)
c.*1098C>A (n.*1098C>A)
c.947C>A (p.Pro316Gln)
c.1055C>A (p.Pro352Gln)
c.*145C>A (n.*145C>A)
c.1010C>A (p.Pro337Gln)
 gnomAD v3 gnomAD v4
17g.6425492dupCA8328306AIPL1c.1127dup (p.Ser377ValfsTer?)
c.938dup (p.Ser314ValfsTer?)
c.*999dup (n.*999dup)
c.1061dup (p.Ser355ValfsTer?)
c.251+8431dup
c.1091dup (p.Ser365ValfsTer?)
c.*1098dup (n.*1098dup)
c.947dup (p.Ser317ValfsTer?)
c.1055dup (p.Ser353ValfsTer?)
c.*145dup (n.*145dup)
c.1010dup (p.Ser338ValfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425492delCA645590904AIPL1c.1127del (p.Pro376ArgfsTer?)
c.938del (p.Pro313ArgfsTer?)
c.*999del (n.*999del)
c.1061del (p.Pro354ArgfsTer?)
c.251+8431del
c.1091del (p.Pro364ArgfsTer?)
c.*1098del (n.*1098del)
c.947del (p.Pro316ArgfsTer?)
c.1055del (p.Pro352ArgfsTer?)
c.*145del (n.*145del)
c.1010del (p.Pro337ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.6425489G>ACA203312AIPL1c.1126C>T (p.Pro376Ser)
c.937C>T (p.Pro313Ser)
c.*998C>T (n.*998C>T)
c.1060C>T (p.Pro354Ser)
c.251+8430C>T
c.1090C>T (p.Pro364Ser)
c.*1097C>T (n.*1097C>T)
c.946C>T (p.Pro316Ser)
c.1054C>T (p.Pro352Ser)
c.*144C>T (n.*144C>T)
c.1009C>T (p.Pro337Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425489G>CCA397394213AIPL1c.1126C>G (p.Pro376Ala)
c.937C>G (p.Pro313Ala)
c.*998C>G (n.*998C>G)
c.1060C>G (p.Pro354Ala)
c.251+8430C>G
c.1090C>G (p.Pro364Ala)
c.*1097C>G (n.*1097C>G)
c.946C>G (p.Pro316Ala)
c.1054C>G (p.Pro352Ala)
c.*144C>G (n.*144C>G)
c.1009C>G (p.Pro337Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425489G=CA2245346518AIPL1c.1126C= (p.Pro376=)
c.937C= (p.Pro313=)
c.*998C= (n.*998C=)
c.1060C= (p.Pro354=)
c.251+8430C=
c.1090C= (p.Pro364=)
c.*1097C= (n.*1097C=)
c.946C= (p.Pro316=)
c.1054C= (p.Pro352=)
c.*144C= (n.*144C=)
c.1009C= (p.Pro337=)
17g.6425489G>TCA397394214AIPL1c.1126C>A (p.Pro376Thr)
c.937C>A (p.Pro313Thr)
c.*998C>A (n.*998C>A)
c.1060C>A (p.Pro354Thr)
c.251+8430C>A
c.1090C>A (p.Pro364Thr)
c.*1097C>A (n.*1097C>A)
c.946C>A (p.Pro316Thr)
c.1054C>A (p.Pro352Thr)
c.*144C>A (n.*144C>A)
c.1009C>A (p.Pro337Thr)
 gnomAD v4
17g.6425490G>ACA497687281AIPL1c.1125C>T (p.Pro375=)
c.936C>T (p.Pro312=)
c.*997C>T (n.*997C>T)
c.1059C>T (p.Pro353=)
c.251+8429C>T
c.1089C>T (p.Pro363=)
c.*1096C>T (n.*1096C>T)
c.945C>T (p.Pro315=)
c.1053C>T (p.Pro351=)
c.*143C>T (n.*143C>T)
c.1008C>T (p.Pro336=)
 gnomAD v4
17g.6425490G>CCA497687283AIPL1c.1125C>G (p.Pro375=)
c.936C>G (p.Pro312=)
c.*997C>G (n.*997C>G)
c.1059C>G (p.Pro353=)
c.251+8429C>G
c.1089C>G (p.Pro363=)
c.*1096C>G (n.*1096C>G)
c.945C>G (p.Pro315=)
c.1053C>G (p.Pro351=)
c.*143C>G (n.*143C>G)
c.1008C>G (p.Pro336=)
17g.6425490G>TCA497687282AIPL1c.1125C>A (p.Pro375=)
c.936C>A (p.Pro312=)
c.*997C>A (n.*997C>A)
c.1059C>A (p.Pro353=)
c.251+8429C>A
c.1089C>A (p.Pro363=)
c.*1096C>A (n.*1096C>A)
c.945C>A (p.Pro315=)
c.1053C>A (p.Pro351=)
c.*143C>A (n.*143C>A)
c.1008C>A (p.Pro336=)
 gnomAD v4 COSMIC
17g.6425504_6425599dupCA2635688832AIPL1c.1030_1125dup (p.Pro375_Pro376insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro)
c.841_936dup (p.Pro312_Pro313insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro)
c.*902_*997dup (n.*902_*997dup)
c.964_1059dup (p.Pro353_Pro354insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro)
c.251+8334_251+8429dup
c.994_1089dup (p.Pro363_Pro364insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro)
c.*1001_*1096dup (n.*1001_*1096dup)
c.850_945dup (p.Pro315_Pro316insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro)
c.958_1053dup (p.Pro351_Pro352insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro)
c.*48_*143dup (n.*48_*143dup)
c.913_1008dup (p.Pro336_Pro337insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro)
 gnomAD v4
17g.6425491G>ACA397394215AIPL1c.1124C>T (p.Pro375Leu)
c.935C>T (p.Pro312Leu)
c.*996C>T (n.*996C>T)
c.1058C>T (p.Pro353Leu)
c.251+8428C>T
c.1088C>T (p.Pro363Leu)
c.*1095C>T (n.*1095C>T)
c.944C>T (p.Pro315Leu)
c.1052C>T (p.Pro351Leu)
c.*142C>T (n.*142C>T)
c.1007C>T (p.Pro336Leu)
 gnomAD v4
17g.6425491G>CCA397394216AIPL1c.1124C>G (p.Pro375Arg)
c.935C>G (p.Pro312Arg)
c.*996C>G (n.*996C>G)
c.1058C>G (p.Pro353Arg)
c.251+8428C>G
c.1088C>G (p.Pro363Arg)
c.*1095C>G (n.*1095C>G)
c.944C>G (p.Pro315Arg)
c.1052C>G (p.Pro351Arg)
c.*142C>G (n.*142C>G)
c.1007C>G (p.Pro336Arg)
17g.6425491G>TCA397394217AIPL1c.1124C>A (p.Pro375His)
c.935C>A (p.Pro312His)
c.*996C>A (n.*996C>A)
c.1058C>A (p.Pro353His)
c.251+8428C>A
c.1088C>A (p.Pro363His)
c.*1095C>A (n.*1095C>A)
c.944C>A (p.Pro315His)
c.1052C>A (p.Pro351His)
c.*142C>A (n.*142C>A)
c.1007C>A (p.Pro336His)
17g.6425492G>ACA397394218AIPL1c.1123C>T (p.Pro375Ser)
c.934C>T (p.Pro312Ser)
c.*995C>T (n.*995C>T)
c.1057C>T (p.Pro353Ser)
c.251+8427C>T
c.1087C>T (p.Pro363Ser)
c.*1094C>T (n.*1094C>T)
c.943C>T (p.Pro315Ser)
c.1051C>T (p.Pro351Ser)
c.*141C>T (n.*141C>T)
c.1006C>T (p.Pro336Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6425492G>CCA397394219AIPL1c.1123C>G (p.Pro375Ala)
c.934C>G (p.Pro312Ala)
c.*995C>G (n.*995C>G)
c.1057C>G (p.Pro353Ala)
c.251+8427C>G
c.1087C>G (p.Pro363Ala)
c.*1094C>G (n.*1094C>G)
c.943C>G (p.Pro315Ala)
c.1051C>G (p.Pro351Ala)
c.*141C>G (n.*141C>G)
c.1006C>G (p.Pro336Ala)
17g.6425492G=CA2245346524AIPL1c.1123C= (p.Pro375=)
c.934C= (p.Pro312=)
c.*995C= (n.*995C=)
c.1057C= (p.Pro353=)
c.251+8427C=
c.1087C= (p.Pro363=)
c.*1094C= (n.*1094C=)
c.943C= (p.Pro315=)
c.1051C= (p.Pro351=)
c.*141C= (n.*141C=)
c.1006C= (p.Pro336=)
17g.6425492G>TCA397394220AIPL1c.1123C>A (p.Pro375Thr)
c.934C>A (p.Pro312Thr)
c.*995C>A (n.*995C>A)
c.1057C>A (p.Pro353Thr)
c.251+8427C>A
c.1087C>A (p.Pro363Thr)
c.*1094C>A (n.*1094C>A)
c.943C>A (p.Pro315Thr)
c.1051C>A (p.Pro351Thr)
c.*141C>A (n.*141C>A)
c.1006C>A (p.Pro336Thr)
 ClinVar gnomAD v4
17g.6425493T>ACA497687284AIPL1c.1122A>T (p.Pro374=)
c.933A>T (p.Pro311=)
c.*994A>T (n.*994A>T)
c.1056A>T (p.Pro352=)
c.251+8426A>T
c.1086A>T (p.Pro362=)
c.*1093A>T (n.*1093A>T)
c.942A>T (p.Pro314=)
c.1050A>T (p.Pro350=)
c.*140A>T (n.*140A>T)
c.1005A>T (p.Pro335=)
17g.6425493T>CCA497687285AIPL1c.1122A>G (p.Pro374=)
c.933A>G (p.Pro311=)
c.*994A>G (n.*994A>G)
c.1056A>G (p.Pro352=)
c.251+8426A>G
c.1086A>G (p.Pro362=)
c.*1093A>G (n.*1093A>G)
c.942A>G (p.Pro314=)
c.1050A>G (p.Pro350=)
c.*140A>G (n.*140A>G)
c.1005A>G (p.Pro335=)
17g.6425493T>GCA497687286AIPL1c.1122A>C (p.Pro374=)
c.933A>C (p.Pro311=)
c.*994A>C (n.*994A>C)
c.1056A>C (p.Pro352=)
c.251+8426A>C
c.1086A>C (p.Pro362=)
c.*1093A>C (n.*1093A>C)
c.942A>C (p.Pro314=)
c.1050A>C (p.Pro350=)
c.*140A>C (n.*140A>C)
c.1005A>C (p.Pro335=)
17g.6425501_6425512dupCA8328307AIPL1c.1111_1122dup (p.Pro374_Pro375insAlaThrGluPro)
c.922_933dup (p.Pro311_Pro312insAlaThrGluPro)
c.*983_*994dup (n.*983_*994dup)
c.1045_1056dup (p.Pro352_Pro353insAlaThrGluPro)
c.251+8415_251+8426dup
c.1075_1086dup (p.Pro362_Pro363insAlaThrGluPro)
c.*1082_*1093dup (n.*1082_*1093dup)
c.931_942dup (p.Pro314_Pro315insAlaThrGluPro)
c.1039_1050dup (p.Pro350_Pro351insAlaThrGluPro)
c.*129_*140dup (n.*129_*140dup)
c.994_1005dup (p.Pro335_Pro336insAlaThrGluPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425494G>ACA397394221AIPL1c.1121C>T (p.Pro374Leu)
c.932C>T (p.Pro311Leu)
c.*993C>T (n.*993C>T)
c.1055C>T (p.Pro352Leu)
c.251+8425C>T
c.1085C>T (p.Pro362Leu)
c.*1092C>T (n.*1092C>T)
c.941C>T (p.Pro314Leu)
c.1049C>T (p.Pro350Leu)
c.*139C>T (n.*139C>T)
c.1004C>T (p.Pro335Leu)
 gnomAD v4
17g.6425494G>CCA397394222AIPL1c.1121C>G (p.Pro374Arg)
c.932C>G (p.Pro311Arg)
c.*993C>G (n.*993C>G)
c.1055C>G (p.Pro352Arg)
c.251+8425C>G
c.1085C>G (p.Pro362Arg)
c.*1092C>G (n.*1092C>G)
c.941C>G (p.Pro314Arg)
c.1049C>G (p.Pro350Arg)
c.*139C>G (n.*139C>G)
c.1004C>G (p.Pro335Arg)
17g.6425494G>TCA397394223AIPL1c.1121C>A (p.Pro374Gln)
c.932C>A (p.Pro311Gln)
c.*993C>A (n.*993C>A)
c.1055C>A (p.Pro352Gln)
c.251+8425C>A
c.1085C>A (p.Pro362Gln)
c.*1092C>A (n.*1092C>A)
c.941C>A (p.Pro314Gln)
c.1049C>A (p.Pro350Gln)
c.*139C>A (n.*139C>A)
c.1004C>A (p.Pro335Gln)
 gnomAD v4
17g.6425495G>ACA397394224AIPL1c.1120C>T (p.Pro374Ser)
c.931C>T (p.Pro311Ser)
c.*992C>T (n.*992C>T)
c.1054C>T (p.Pro352Ser)
c.251+8424C>T
c.1084C>T (p.Pro362Ser)
c.*1091C>T (n.*1091C>T)
c.940C>T (p.Pro314Ser)
c.1048C>T (p.Pro350Ser)
c.*138C>T (n.*138C>T)
c.1003C>T (p.Pro335Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425495G>CCA397394225AIPL1c.1120C>G (p.Pro374Ala)
c.931C>G (p.Pro311Ala)
c.*992C>G (n.*992C>G)
c.1054C>G (p.Pro352Ala)
c.251+8424C>G
c.1084C>G (p.Pro362Ala)
c.*1091C>G (n.*1091C>G)
c.940C>G (p.Pro314Ala)
c.1048C>G (p.Pro350Ala)
c.*138C>G (n.*138C>G)
c.1003C>G (p.Pro335Ala)
17g.6425495G=CA2245346531AIPL1c.1120C= (p.Pro374=)
c.931C= (p.Pro311=)
c.*992C= (n.*992C=)
c.1054C= (p.Pro352=)
c.251+8424C=
c.1084C= (p.Pro362=)
c.*1091C= (n.*1091C=)
c.940C= (p.Pro314=)
c.1048C= (p.Pro350=)
c.*138C= (n.*138C=)
c.1003C= (p.Pro335=)
17g.6425495G>TCA397394226AIPL1c.1120C>A (p.Pro374Thr)
c.931C>A (p.Pro311Thr)
c.*992C>A (n.*992C>A)
c.1054C>A (p.Pro352Thr)
c.251+8424C>A
c.1084C>A (p.Pro362Thr)
c.*1091C>A (n.*1091C>A)
c.940C>A (p.Pro314Thr)
c.1048C>A (p.Pro350Thr)
c.*138C>A (n.*138C>A)
c.1003C>A (p.Pro335Thr)
 gnomAD v4
17g.6425496C>ACA397394227AIPL1c.1119G>T (p.Glu373Asp)
c.930G>T (p.Glu310Asp)
c.*991G>T (n.*991G>T)
c.1053G>T (p.Glu351Asp)
c.251+8423G>T
c.1083G>T (p.Glu361Asp)
c.*1090G>T (n.*1090G>T)
c.939G>T (p.Glu313Asp)
c.1047G>T (p.Glu349Asp)
c.*137G>T (n.*137G>T)
c.1002G>T (p.Glu334Asp)
 gnomAD v4
17g.6425496C>GCA397394228AIPL1c.1119G>C (p.Glu373Asp)
c.930G>C (p.Glu310Asp)
c.*991G>C (n.*991G>C)
c.1053G>C (p.Glu351Asp)
c.251+8423G>C
c.1083G>C (p.Glu361Asp)
c.*1090G>C (n.*1090G>C)
c.939G>C (p.Glu313Asp)
c.1047G>C (p.Glu349Asp)
c.*137G>C (n.*137G>C)
c.1002G>C (p.Glu334Asp)
17g.6425496C>TCA497687287AIPL1c.1119G>A (p.Glu373=)
c.930G>A (p.Glu310=)
c.*991G>A (n.*991G>A)
c.1053G>A (p.Glu351=)
c.251+8423G>A
c.1083G>A (p.Glu361=)
c.*1090G>A (n.*1090G>A)
c.939G>A (p.Glu313=)
c.1047G>A (p.Glu349=)
c.*137G>A (n.*137G>A)
c.1002G>A (p.Glu334=)
 gnomAD v4
17g.6425497T>ACA397394229AIPL1c.1118A>T (p.Glu373Val)
c.929A>T (p.Glu310Val)
c.*990A>T (n.*990A>T)
c.1052A>T (p.Glu351Val)
c.251+8422A>T
c.1082A>T (p.Glu361Val)
c.*1089A>T (n.*1089A>T)
c.938A>T (p.Glu313Val)
c.1046A>T (p.Glu349Val)
c.*136A>T (n.*136A>T)
c.1001A>T (p.Glu334Val)
 gnomAD v4
17g.6425497T>CCA397394230AIPL1c.1118A>G (p.Glu373Gly)
c.929A>G (p.Glu310Gly)
c.*990A>G (n.*990A>G)
c.1052A>G (p.Glu351Gly)
c.251+8422A>G
c.1082A>G (p.Glu361Gly)
c.*1089A>G (n.*1089A>G)
c.938A>G (p.Glu313Gly)
c.1046A>G (p.Glu349Gly)
c.*136A>G (n.*136A>G)
c.1001A>G (p.Glu334Gly)
17g.6425497T>GCA397394231AIPL1c.1118A>C (p.Glu373Ala)
c.929A>C (p.Glu310Ala)
c.*990A>C (n.*990A>C)
c.1052A>C (p.Glu351Ala)
c.251+8422A>C
c.1082A>C (p.Glu361Ala)
c.*1089A>C (n.*1089A>C)
c.938A>C (p.Glu313Ala)
c.1046A>C (p.Glu349Ala)
c.*136A>C (n.*136A>C)
c.1001A>C (p.Glu334Ala)
17g.6425498C>ACA397394232AIPL1c.1117G>T (p.Glu373Ter)
c.928G>T (p.Glu310Ter)
c.*989G>T (n.*989G>T)
c.1051G>T (p.Glu351Ter)
c.251+8421G>T
c.1081G>T (p.Glu361Ter)
c.*1088G>T (n.*1088G>T)
c.937G>T (p.Glu313Ter)
c.1045G>T (p.Glu349Ter)
c.*135G>T (n.*135G>T)
c.1000G>T (p.Glu334Ter)
17g.6425498C>GCA397394233AIPL1c.1117G>C (p.Glu373Gln)
c.928G>C (p.Glu310Gln)
c.*989G>C (n.*989G>C)
c.1051G>C (p.Glu351Gln)
c.251+8421G>C
c.1081G>C (p.Glu361Gln)
c.*1088G>C (n.*1088G>C)
c.937G>C (p.Glu313Gln)
c.1045G>C (p.Glu349Gln)
c.*135G>C (n.*135G>C)
c.1000G>C (p.Glu334Gln)
17g.6425498C>TCA397394234AIPL1c.1117G>A (p.Glu373Lys)
c.928G>A (p.Glu310Lys)
c.*989G>A (n.*989G>A)
c.1051G>A (p.Glu351Lys)
c.251+8421G>A
c.1081G>A (p.Glu361Lys)
c.*1088G>A (n.*1088G>A)
c.937G>A (p.Glu313Lys)
c.1045G>A (p.Glu349Lys)
c.*135G>A (n.*135G>A)
c.1000G>A (p.Glu334Lys)
17g.6425499T>ACA497687288AIPL1c.1116A>T (p.Thr372=)
c.927A>T (p.Thr309=)
c.*988A>T (n.*988A>T)
c.1050A>T (p.Thr350=)
c.251+8420A>T
c.1080A>T (p.Thr360=)
c.*1087A>T (n.*1087A>T)
c.936A>T (p.Thr312=)
c.1044A>T (p.Thr348=)
c.*134A>T (n.*134A>T)
c.999A>T (p.Thr333=)
17g.6425499T>CCA497687289AIPL1c.1116A>G (p.Thr372=)
c.927A>G (p.Thr309=)
c.*988A>G (n.*988A>G)
c.1050A>G (p.Thr350=)
c.251+8420A>G
c.1080A>G (p.Thr360=)
c.*1087A>G (n.*1087A>G)
c.936A>G (p.Thr312=)
c.1044A>G (p.Thr348=)
c.*134A>G (n.*134A>G)
c.999A>G (p.Thr333=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425499T>GCA497687290AIPL1c.1116A>C (p.Thr372=)
c.927A>C (p.Thr309=)
c.*988A>C (n.*988A>C)
c.1050A>C (p.Thr350=)
c.251+8420A>C
c.1080A>C (p.Thr360=)
c.*1087A>C (n.*1087A>C)
c.936A>C (p.Thr312=)
c.1044A>C (p.Thr348=)
c.*134A>C (n.*134A>C)
c.999A>C (p.Thr333=)
 ClinVar
17g.6425499T=CA2245346534AIPL1c.1116A= (p.Thr372=)
c.927A= (p.Thr309=)
c.*988A= (n.*988A=)
c.1050A= (p.Thr350=)
c.251+8420A=
c.1080A= (p.Thr360=)
c.*1087A= (n.*1087A=)
c.936A= (p.Thr312=)
c.1044A= (p.Thr348=)
c.*134A= (n.*134A=)
c.999A= (p.Thr333=)
17g.6425501_6425502dupCA2635688833AIPL1c.1115_1116dup (p.Glu373GlnfsTer?)
c.926_927dup (p.Glu310GlnfsTer?)
c.*987_*988dup (n.*987_*988dup)
c.1049_1050dup (p.Glu351GlnfsTer?)
c.251+8419_251+8420dup
c.1079_1080dup (p.Glu361GlnfsTer?)
c.*1086_*1087dup (n.*1086_*1087dup)
c.935_936dup (p.Glu313GlnfsTer?)
c.1043_1044dup (p.Glu349GlnfsTer?)
c.*133_*134dup (n.*133_*134dup)
c.998_999dup (p.Glu334GlnfsTer?)
 gnomAD v4
17g.6425500G>ACA397394237AIPL1c.1115C>T (p.Thr372Ile)
c.926C>T (p.Thr309Ile)
c.*987C>T (n.*987C>T)
c.1049C>T (p.Thr350Ile)
c.251+8419C>T
c.1079C>T (p.Thr360Ile)
c.*1086C>T (n.*1086C>T)
c.935C>T (p.Thr312Ile)
c.1043C>T (p.Thr348Ile)
c.*133C>T (n.*133C>T)
c.998C>T (p.Thr333Ile)
 gnomAD v4
17g.6425500G>CCA397394236AIPL1c.1115C>G (p.Thr372Arg)
c.926C>G (p.Thr309Arg)
c.*987C>G (n.*987C>G)
c.1049C>G (p.Thr350Arg)
c.251+8419C>G
c.1079C>G (p.Thr360Arg)
c.*1086C>G (n.*1086C>G)
c.935C>G (p.Thr312Arg)
c.1043C>G (p.Thr348Arg)
c.*133C>G (n.*133C>G)
c.998C>G (p.Thr333Arg)
17g.6425500G>TCA397394235AIPL1c.1115C>A (p.Thr372Lys)
c.926C>A (p.Thr309Lys)
c.*987C>A (n.*987C>A)
c.1049C>A (p.Thr350Lys)
c.251+8419C>A
c.1079C>A (p.Thr360Lys)
c.*1086C>A (n.*1086C>A)
c.935C>A (p.Thr312Lys)
c.1043C>A (p.Thr348Lys)
c.*133C>A (n.*133C>A)
c.998C>A (p.Thr333Lys)
 gnomAD v4
17g.6425501T>ACA397394238AIPL1c.1114A>T (p.Thr372Ser)
c.925A>T (p.Thr309Ser)
c.*986A>T (n.*986A>T)
c.1048A>T (p.Thr350Ser)
c.251+8418A>T
c.1078A>T (p.Thr360Ser)
c.*1085A>T (n.*1085A>T)
c.934A>T (p.Thr312Ser)
c.1042A>T (p.Thr348Ser)
c.*132A>T (n.*132A>T)
c.997A>T (p.Thr333Ser)
17g.6425501T>CCA397394239AIPL1c.1114A>G (p.Thr372Ala)
c.925A>G (p.Thr309Ala)
c.*986A>G (n.*986A>G)
c.1048A>G (p.Thr350Ala)
c.251+8418A>G
c.1078A>G (p.Thr360Ala)
c.*1085A>G (n.*1085A>G)
c.934A>G (p.Thr312Ala)
c.1042A>G (p.Thr348Ala)
c.*132A>G (n.*132A>G)
c.997A>G (p.Thr333Ala)
17g.6425501T>GCA397394240AIPL1c.1114A>C (p.Thr372Pro)
c.925A>C (p.Thr309Pro)
c.*986A>C (n.*986A>C)
c.1048A>C (p.Thr350Pro)
c.251+8418A>C
c.1078A>C (p.Thr360Pro)
c.*1085A>C (n.*1085A>C)
c.934A>C (p.Thr312Pro)
c.1042A>C (p.Thr348Pro)
c.*132A>C (n.*132A>C)
c.997A>C (p.Thr333Pro)
17g.6425502G>ACA497687291AIPL1c.1113C>T (p.Ala371=)
c.924C>T (p.Ala308=)
c.*985C>T (n.*985C>T)
c.1047C>T (p.Ala349=)
c.251+8417C>T
c.1077C>T (p.Ala359=)
c.*1084C>T (n.*1084C>T)
c.933C>T (p.Ala311=)
c.1041C>T (p.Ala347=)
c.*131C>T (n.*131C>T)
c.996C>T (p.Ala332=)
17g.6425502G>CCA497687292AIPL1c.1113C>G (p.Ala371=)
c.924C>G (p.Ala308=)
c.*985C>G (n.*985C>G)
c.1047C>G (p.Ala349=)
c.251+8417C>G
c.1077C>G (p.Ala359=)
c.*1084C>G (n.*1084C>G)
c.933C>G (p.Ala311=)
c.1041C>G (p.Ala347=)
c.*131C>G (n.*131C>G)
c.996C>G (p.Ala332=)
17g.6425502G>TCA497687293AIPL1c.1113C>A (p.Ala371=)
c.924C>A (p.Ala308=)
c.*985C>A (n.*985C>A)
c.1047C>A (p.Ala349=)
c.251+8417C>A
c.1077C>A (p.Ala359=)
c.*1084C>A (n.*1084C>A)
c.933C>A (p.Ala311=)
c.1041C>A (p.Ala347=)
c.*131C>A (n.*131C>A)
c.996C>A (p.Ala332=)
17g.6425502_6425513dupCA2576142266AIPL1c.1102_1113dup (p.Ala371_Thr372insAlaGluProAla)
c.913_924dup (p.Ala308_Thr309insAlaGluProAla)
c.*974_*985dup (n.*974_*985dup)
c.1036_1047dup (p.Ala349_Thr350insAlaGluProAla)
c.251+8406_251+8417dup
c.1066_1077dup (p.Ala359_Thr360insAlaGluProAla)
c.*1073_*1084dup (n.*1073_*1084dup)
c.922_933dup (p.Ala311_Thr312insAlaGluProAla)
c.1030_1041dup (p.Ala347_Thr348insAlaGluProAla)
c.*120_*131dup (n.*120_*131dup)
c.985_996dup (p.Ala332_Thr333insAlaGluProAla)
17g.6425503G>ACA397394241AIPL1c.1112C>T (p.Ala371Val)
c.923C>T (p.Ala308Val)
c.*984C>T (n.*984C>T)
c.1046C>T (p.Ala349Val)
c.251+8416C>T
c.1076C>T (p.Ala359Val)
c.*1083C>T (n.*1083C>T)
c.932C>T (p.Ala311Val)
c.1040C>T (p.Ala347Val)
c.*130C>T (n.*130C>T)
c.995C>T (p.Ala332Val)
 gnomAD v4
17g.6425503G>CCA8328308AIPL1c.1112C>G (p.Ala371Gly)
c.923C>G (p.Ala308Gly)
c.*984C>G (n.*984C>G)
c.1046C>G (p.Ala349Gly)
c.251+8416C>G
c.1076C>G (p.Ala359Gly)
c.*1083C>G (n.*1083C>G)
c.932C>G (p.Ala311Gly)
c.1040C>G (p.Ala347Gly)
c.*130C>G (n.*130C>G)
c.995C>G (p.Ala332Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425503G=CA2245346562AIPL1c.1112C= (p.Ala371=)
c.923C= (p.Ala308=)
c.*984C= (n.*984C=)
c.1046C= (p.Ala349=)
c.251+8416C=
c.1076C= (p.Ala359=)
c.*1083C= (n.*1083C=)
c.932C= (p.Ala311=)
c.1040C= (p.Ala347=)
c.*130C= (n.*130C=)
c.995C= (p.Ala332=)
17g.6425503G>TCA397394242AIPL1c.1112C>A (p.Ala371Asp)
c.923C>A (p.Ala308Asp)
c.*984C>A (n.*984C>A)
c.1046C>A (p.Ala349Asp)
c.251+8416C>A
c.1076C>A (p.Ala359Asp)
c.*1083C>A (n.*1083C>A)
c.932C>A (p.Ala311Asp)
c.1040C>A (p.Ala347Asp)
c.*130C>A (n.*130C>A)
c.995C>A (p.Ala332Asp)
 gnomAD v4
17g.6425504C>ACA397394243AIPL1c.1111G>T (p.Ala371Ser)
c.922G>T (p.Ala308Ser)
c.*983G>T (n.*983G>T)
c.1045G>T (p.Ala349Ser)
c.251+8415G>T
c.1075G>T (p.Ala359Ser)
c.*1082G>T (n.*1082G>T)
c.931G>T (p.Ala311Ser)
c.1039G>T (p.Ala347Ser)
c.*129G>T (n.*129G>T)
c.994G>T (p.Ala332Ser)
17g.6425504C=CA2245346565AIPL1c.1111G= (p.Ala371=)
c.922G= (p.Ala308=)
c.*983G= (n.*983G=)
c.1045G= (p.Ala349=)
c.251+8415G=
c.1075G= (p.Ala359=)
c.*1082G= (n.*1082G=)
c.931G= (p.Ala311=)
c.1039G= (p.Ala347=)
c.*129G= (n.*129G=)
c.994G= (p.Ala332=)
17g.6425504C>GCA397394245AIPL1c.1111G>C (p.Ala371Pro)
c.922G>C (p.Ala308Pro)
c.*983G>C (n.*983G>C)
c.1045G>C (p.Ala349Pro)
c.251+8415G>C
c.1075G>C (p.Ala359Pro)
c.*1082G>C (n.*1082G>C)
c.931G>C (p.Ala311Pro)
c.1039G>C (p.Ala347Pro)
c.*129G>C (n.*129G>C)
c.994G>C (p.Ala332Pro)
17g.6425504C>TCA397394244AIPL1c.1111G>A (p.Ala371Thr)
c.922G>A (p.Ala308Thr)
c.*983G>A (n.*983G>A)
c.1045G>A (p.Ala349Thr)
c.251+8415G>A
c.1075G>A (p.Ala359Thr)
c.*1082G>A (n.*1082G>A)
c.931G>A (p.Ala311Thr)
c.1039G>A (p.Ala347Thr)
c.*129G>A (n.*129G>A)
c.994G>A (p.Ala332Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.6425505T>ACA497687296AIPL1c.1110A>T (p.Pro370=)
c.921A>T (p.Pro307=)
c.*982A>T (n.*982A>T)
c.1044A>T (p.Pro348=)
c.251+8414A>T
c.1074A>T (p.Pro358=)
c.*1081A>T (n.*1081A>T)
c.930A>T (p.Pro310=)
c.1038A>T (p.Pro346=)
c.*128A>T (n.*128A>T)
c.993A>T (p.Pro331=)
17g.6425505T>CCA497687294AIPL1c.1110A>G (p.Pro370=)
c.921A>G (p.Pro307=)
c.*982A>G (n.*982A>G)
c.1044A>G (p.Pro348=)
c.251+8414A>G
c.1074A>G (p.Pro358=)
c.*1081A>G (n.*1081A>G)
c.930A>G (p.Pro310=)
c.1038A>G (p.Pro346=)
c.*128A>G (n.*128A>G)
c.993A>G (p.Pro331=)
17g.6425505T>GCA497687295AIPL1c.1110A>C (p.Pro370=)
c.921A>C (p.Pro307=)
c.*982A>C (n.*982A>C)
c.1044A>C (p.Pro348=)
c.251+8414A>C
c.1074A>C (p.Pro358=)
c.*1081A>C (n.*1081A>C)
c.930A>C (p.Pro310=)
c.1038A>C (p.Pro346=)
c.*128A>C (n.*128A>C)
c.993A>C (p.Pro331=)
17g.6425506G>ACA397394246AIPL1c.1109C>T (p.Pro370Leu)
c.920C>T (p.Pro307Leu)
c.*981C>T (n.*981C>T)
c.1043C>T (p.Pro348Leu)
c.251+8413C>T
c.1073C>T (p.Pro358Leu)
c.*1080C>T (n.*1080C>T)
c.929C>T (p.Pro310Leu)
c.1037C>T (p.Pro346Leu)
c.*127C>T (n.*127C>T)
c.992C>T (p.Pro331Leu)
17g.6425506G>CCA397394247AIPL1c.1109C>G (p.Pro370Arg)
c.920C>G (p.Pro307Arg)
c.*981C>G (n.*981C>G)
c.1043C>G (p.Pro348Arg)
c.251+8413C>G
c.1073C>G (p.Pro358Arg)
c.*1080C>G (n.*1080C>G)
c.929C>G (p.Pro310Arg)
c.1037C>G (p.Pro346Arg)
c.*127C>G (n.*127C>G)
c.992C>G (p.Pro331Arg)
17g.6425506G>TCA397394248AIPL1c.1109C>A (p.Pro370Gln)
c.920C>A (p.Pro307Gln)
c.*981C>A (n.*981C>A)
c.1043C>A (p.Pro348Gln)
c.251+8413C>A
c.1073C>A (p.Pro358Gln)
c.*1080C>A (n.*1080C>A)
c.929C>A (p.Pro310Gln)
c.1037C>A (p.Pro346Gln)
c.*127C>A (n.*127C>A)
c.992C>A (p.Pro331Gln)
17g.6425507G>ACA8328309AIPL1c.1108C>T (p.Pro370Ser)
c.919C>T (p.Pro307Ser)
c.*980C>T (n.*980C>T)
c.1042C>T (p.Pro348Ser)
c.251+8412C>T
c.1072C>T (p.Pro358Ser)
c.*1079C>T (n.*1079C>T)
c.928C>T (p.Pro310Ser)
c.1036C>T (p.Pro346Ser)
c.*126C>T (n.*126C>T)
c.991C>T (p.Pro331Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425507G>CCA397394249AIPL1c.1108C>G (p.Pro370Ala)
c.919C>G (p.Pro307Ala)
c.*980C>G (n.*980C>G)
c.1042C>G (p.Pro348Ala)
c.251+8412C>G
c.1072C>G (p.Pro358Ala)
c.*1079C>G (n.*1079C>G)
c.928C>G (p.Pro310Ala)
c.1036C>G (p.Pro346Ala)
c.*126C>G (n.*126C>G)
c.991C>G (p.Pro331Ala)
 gnomAD v4
17g.6425507G=CA2245346568AIPL1c.1108C= (p.Pro370=)
c.919C= (p.Pro307=)
c.*980C= (n.*980C=)
c.1042C= (p.Pro348=)
c.251+8412C=
c.1072C= (p.Pro358=)
c.*1079C= (n.*1079C=)
c.928C= (p.Pro310=)
c.1036C= (p.Pro346=)
c.*126C= (n.*126C=)
c.991C= (p.Pro331=)
17g.6425507G>TCA397394250AIPL1c.1108C>A (p.Pro370Thr)
c.919C>A (p.Pro307Thr)
c.*980C>A (n.*980C>A)
c.1042C>A (p.Pro348Thr)
c.251+8412C>A
c.1072C>A (p.Pro358Thr)
c.*1079C>A (n.*1079C>A)
c.928C>A (p.Pro310Thr)
c.1036C>A (p.Pro346Thr)
c.*126C>A (n.*126C>A)
c.991C>A (p.Pro331Thr)
 gnomAD v4
17g.6425516_6425539delCA2635688834AIPL1c.1085_1108del (p.Leu362_Glu369del)
c.896_919del (p.Leu299_Glu306del)
c.*957_*980del (n.*957_*980del)
c.1019_1042del (p.Leu340_Glu347del)
c.251+8389_251+8412del
c.1049_1072del (p.Leu350_Glu357del)
c.*1056_*1079del (n.*1056_*1079del)
c.905_928del (p.Leu302_Glu309del)
c.1013_1036del (p.Leu338_Glu345del)
c.*103_*126del (n.*103_*126del)
c.968_991del (p.Leu323_Glu330del)
 gnomAD v4
17g.6425508C>ACA397394251AIPL1c.1107G>T (p.Glu369Asp)
c.918G>T (p.Glu306Asp)
c.*979G>T (n.*979G>T)
c.1041G>T (p.Glu347Asp)
c.251+8411G>T
c.1071G>T (p.Glu357Asp)
c.*1078G>T (n.*1078G>T)
c.927G>T (p.Glu309Asp)
c.1035G>T (p.Glu345Asp)
c.*125G>T (n.*125G>T)
c.990G>T (p.Glu330Asp)
17g.6425508C=CA2245346574AIPL1c.1107G= (p.Glu369=)
c.918G= (p.Glu306=)
c.*979G= (n.*979G=)
c.1041G= (p.Glu347=)
c.251+8411G=
c.1071G= (p.Glu357=)
c.*1078G= (n.*1078G=)
c.927G= (p.Glu309=)
c.1035G= (p.Glu345=)
c.*125G= (n.*125G=)
c.990G= (p.Glu330=)
17g.6425508C>GCA8328310AIPL1c.1107G>C (p.Glu369Asp)
c.918G>C (p.Glu306Asp)
c.*979G>C (n.*979G>C)
c.1041G>C (p.Glu347Asp)
c.251+8411G>C
c.1071G>C (p.Glu357Asp)
c.*1078G>C (n.*1078G>C)
c.927G>C (p.Glu309Asp)
c.1035G>C (p.Glu345Asp)
c.*125G>C (n.*125G>C)
c.990G>C (p.Glu330Asp)
 dbSNP ExAC
17g.6425508C>TCA497687297AIPL1c.1107G>A (p.Glu369=)
c.918G>A (p.Glu306=)
c.*979G>A (n.*979G>A)
c.1041G>A (p.Glu347=)
c.251+8411G>A
c.1071G>A (p.Glu357=)
c.*1078G>A (n.*1078G>A)
c.927G>A (p.Glu309=)
c.1035G>A (p.Glu345=)
c.*125G>A (n.*125G>A)
c.990G>A (p.Glu330=)
 gnomAD v4
17g.6425509T>ACA397394252AIPL1c.1106A>T (p.Glu369Val)
c.917A>T (p.Glu306Val)
c.*978A>T (n.*978A>T)
c.1040A>T (p.Glu347Val)
c.251+8410A>T
c.1070A>T (p.Glu357Val)
c.*1077A>T (n.*1077A>T)
c.926A>T (p.Glu309Val)
c.1034A>T (p.Glu345Val)
c.*124A>T (n.*124A>T)
c.989A>T (p.Glu330Val)
17g.6425509T>CCA397394253AIPL1c.1106A>G (p.Glu369Gly)
c.917A>G (p.Glu306Gly)
c.*978A>G (n.*978A>G)
c.1040A>G (p.Glu347Gly)
c.251+8410A>G
c.1070A>G (p.Glu357Gly)
c.*1077A>G (n.*1077A>G)
c.926A>G (p.Glu309Gly)
c.1034A>G (p.Glu345Gly)
c.*124A>G (n.*124A>G)
c.989A>G (p.Glu330Gly)
 gnomAD v4
17g.6425509T>GCA397394254AIPL1c.1106A>C (p.Glu369Ala)
c.917A>C (p.Glu306Ala)
c.*978A>C (n.*978A>C)
c.1040A>C (p.Glu347Ala)
c.251+8410A>C
c.1070A>C (p.Glu357Ala)
c.*1077A>C (n.*1077A>C)
c.926A>C (p.Glu309Ala)
c.1034A>C (p.Glu345Ala)
c.*124A>C (n.*124A>C)
c.989A>C (p.Glu330Ala)
17g.6425510C>ACA397394255AIPL1c.1105G>T (p.Glu369Ter)
c.916G>T (p.Glu306Ter)
c.*977G>T (n.*977G>T)
c.1039G>T (p.Glu347Ter)
c.251+8409G>T
c.1069G>T (p.Glu357Ter)
c.*1076G>T (n.*1076G>T)
c.925G>T (p.Glu309Ter)
c.1033G>T (p.Glu345Ter)
c.*123G>T (n.*123G>T)
c.988G>T (p.Glu330Ter)
 COSMIC
17g.6425510C>GCA397394257AIPL1c.1105G>C (p.Glu369Gln)
c.916G>C (p.Glu306Gln)
c.*977G>C (n.*977G>C)
c.1039G>C (p.Glu347Gln)
c.251+8409G>C
c.1069G>C (p.Glu357Gln)
c.*1076G>C (n.*1076G>C)
c.925G>C (p.Glu309Gln)
c.1033G>C (p.Glu345Gln)
c.*123G>C (n.*123G>C)
c.988G>C (p.Glu330Gln)
17g.6425510C>TCA397394256AIPL1c.1105G>A (p.Glu369Lys)
c.916G>A (p.Glu306Lys)
c.*977G>A (n.*977G>A)
c.1039G>A (p.Glu347Lys)
c.251+8409G>A
c.1069G>A (p.Glu357Lys)
c.*1076G>A (n.*1076G>A)
c.925G>A (p.Glu309Lys)
c.1033G>A (p.Glu345Lys)
c.*123G>A (n.*123G>A)
c.988G>A (p.Glu330Lys)
17g.6425511T>ACA497687300AIPL1c.1104A>T (p.Ala368=)
c.915A>T (p.Ala305=)
c.*976A>T (n.*976A>T)
c.1038A>T (p.Ala346=)
c.251+8408A>T
c.1068A>T (p.Ala356=)
c.*1075A>T (n.*1075A>T)
c.924A>T (p.Ala308=)
c.1032A>T (p.Ala344=)
c.*122A>T (n.*122A>T)
c.987A>T (p.Ala329=)
 gnomAD v4
17g.6425511T>CCA497687298AIPL1c.1104A>G (p.Ala368=)
c.915A>G (p.Ala305=)
c.*976A>G (n.*976A>G)
c.1038A>G (p.Ala346=)
c.251+8408A>G
c.1068A>G (p.Ala356=)
c.*1075A>G (n.*1075A>G)
c.924A>G (p.Ala308=)
c.1032A>G (p.Ala344=)
c.*122A>G (n.*122A>G)
c.987A>G (p.Ala329=)
17g.6425511T>GCA497687299AIPL1c.1104A>C (p.Ala368=)
c.915A>C (p.Ala305=)
c.*976A>C (n.*976A>C)
c.1038A>C (p.Ala346=)
c.251+8408A>C
c.1068A>C (p.Ala356=)
c.*1075A>C (n.*1075A>C)
c.924A>C (p.Ala308=)
c.1032A>C (p.Ala344=)
c.*122A>C (n.*122A>C)
c.987A>C (p.Ala329=)
17g.6425512G>ACA397394258AIPL1c.1103C>T (p.Ala368Val)
c.914C>T (p.Ala305Val)
c.*975C>T (n.*975C>T)
c.1037C>T (p.Ala346Val)
c.251+8407C>T
c.1067C>T (p.Ala356Val)
c.*1074C>T (n.*1074C>T)
c.923C>T (p.Ala308Val)
c.1031C>T (p.Ala344Val)
c.*121C>T (n.*121C>T)
c.986C>T (p.Ala329Val)
 gnomAD v4
17g.6425512G>CCA397394260AIPL1c.1103C>G (p.Ala368Gly)
c.914C>G (p.Ala305Gly)
c.*975C>G (n.*975C>G)
c.1037C>G (p.Ala346Gly)
c.251+8407C>G
c.1067C>G (p.Ala356Gly)
c.*1074C>G (n.*1074C>G)
c.923C>G (p.Ala308Gly)
c.1031C>G (p.Ala344Gly)
c.*121C>G (n.*121C>G)
c.986C>G (p.Ala329Gly)
 gnomAD v4
17g.6425512G=CA2245346577AIPL1c.1103C= (p.Ala368=)
c.914C= (p.Ala305=)
c.*975C= (n.*975C=)
c.1037C= (p.Ala346=)
c.251+8407C=
c.1067C= (p.Ala356=)
c.*1074C= (n.*1074C=)
c.923C= (p.Ala308=)
c.1031C= (p.Ala344=)
c.*121C= (n.*121C=)
c.986C= (p.Ala329=)
17g.6425512G>TCA397394259AIPL1c.1103C>A (p.Ala368Glu)
c.914C>A (p.Ala305Glu)
c.*975C>A (n.*975C>A)
c.1037C>A (p.Ala346Glu)
c.251+8407C>A
c.1067C>A (p.Ala356Glu)
c.*1074C>A (n.*1074C>A)
c.923C>A (p.Ala308Glu)
c.1031C>A (p.Ala344Glu)
c.*121C>A (n.*121C>A)
c.986C>A (p.Ala329Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.6425513_6425514insGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCCA2635688835AIPL1c.1103_1104insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu369AlafsTer5)
c.914_915insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu306AlafsTer5)
c.*975_*976insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (n.*975_*976insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC)
c.1037_1038insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu347AlafsTer5)
c.251+8407_251+8408insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC
c.1067_1068insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu357AlafsTer5)
c.*1074_*1075insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (n.*1074_*1075insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC)
c.923_924insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu309AlafsTer5)
c.1031_1032insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu345AlafsTer5)
c.*121_*122insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (n.*121_*122insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC)
c.986_987insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu330AlafsTer5)
 gnomAD v4
17g.6425513C>ACA397394261AIPL1c.1102G>T (p.Ala368Ser)
c.913G>T (p.Ala305Ser)
c.*974G>T (n.*974G>T)
c.1036G>T (p.Ala346Ser)
c.251+8406G>T
c.1066G>T (p.Ala356Ser)
c.*1073G>T (n.*1073G>T)
c.922G>T (p.Ala308Ser)
c.1030G>T (p.Ala344Ser)
c.*120G>T (n.*120G>T)
c.985G>T (p.Ala329Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.6425513C=CA2245346579AIPL1c.1102G= (p.Ala368=)
c.913G= (p.Ala305=)
c.*974G= (n.*974G=)
c.1036G= (p.Ala346=)
c.251+8406G=
c.1066G= (p.Ala356=)
c.*1073G= (n.*1073G=)
c.922G= (p.Ala308=)
c.1030G= (p.Ala344=)
c.*120G= (n.*120G=)
c.985G= (p.Ala329=)
17g.6425513C>GCA397394262AIPL1c.1102G>C (p.Ala368Pro)
c.913G>C (p.Ala305Pro)
c.*974G>C (n.*974G>C)
c.1036G>C (p.Ala346Pro)
c.251+8406G>C
c.1066G>C (p.Ala356Pro)
c.*1073G>C (n.*1073G>C)
c.922G>C (p.Ala308Pro)
c.1030G>C (p.Ala344Pro)
c.*120G>C (n.*120G>C)
c.985G>C (p.Ala329Pro)
17g.6425513C>TCA8328311AIPL1c.1102G>A (p.Ala368Thr)
c.913G>A (p.Ala305Thr)
c.*974G>A (n.*974G>A)
c.1036G>A (p.Ala346Thr)
c.251+8406G>A
c.1066G>A (p.Ala356Thr)
c.*1073G>A (n.*1073G>A)
c.922G>A (p.Ala308Thr)
c.1030G>A (p.Ala344Thr)
c.*120G>A (n.*120G>A)
c.985G>A (p.Ala329Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425514A=CA2245346583AIPL1c.1101T= (p.Pro367=)
c.912T= (p.Pro304=)
c.*973T= (n.*973T=)
c.1035T= (p.Pro345=)
c.251+8405T=
c.1065T= (p.Pro355=)
c.*1072T= (n.*1072T=)
c.921T= (p.Pro307=)
c.1029T= (p.Pro343=)
c.*119T= (n.*119T=)
c.984T= (p.Pro328=)
17g.6425514A>CCA497687301AIPL1c.1101T>G (p.Pro367=)
c.912T>G (p.Pro304=)
c.*973T>G (n.*973T>G)
c.1035T>G (p.Pro345=)
c.251+8405T>G
c.1065T>G (p.Pro355=)
c.*1072T>G (n.*1072T>G)
c.921T>G (p.Pro307=)
c.1029T>G (p.Pro343=)
c.*119T>G (n.*119T>G)
c.984T>G (p.Pro328=)
 dbSNP
17g.6425514A>GCA10606970AIPL1c.1101T>C (p.Pro367=)
c.912T>C (p.Pro304=)
c.*973T>C (n.*973T>C)
c.1035T>C (p.Pro345=)
c.251+8405T>C
c.1065T>C (p.Pro355=)
c.*1072T>C (n.*1072T>C)
c.921T>C (p.Pro307=)
c.1029T>C (p.Pro343=)
c.*119T>C (n.*119T>C)
c.984T>C (p.Pro328=)
 ClinVar dbSNP
17g.6425514A>TCA497687302AIPL1c.1101T>A (p.Pro367=)
c.912T>A (p.Pro304=)
c.*973T>A (n.*973T>A)
c.1035T>A (p.Pro345=)
c.251+8405T>A
c.1065T>A (p.Pro355=)
c.*1072T>A (n.*1072T>A)
c.921T>A (p.Pro307=)
c.1029T>A (p.Pro343=)
c.*119T>A (n.*119T>A)
c.984T>A (p.Pro328=)
17g.6425514_6425515delinsAGCA2245346584AIPL1c.1100_1101delinsCT (p.Pro367=)
c.911_912delinsCT (p.Pro304=)
c.*972_*973delinsCT (n.*972_*973delinsCT)
c.1034_1035delinsCT (p.Pro345=)
c.251+8404_251+8405delinsCT
c.1064_1065delinsCT (p.Pro355=)
c.*1071_*1072delinsCT (n.*1071_*1072delinsCT)
c.920_921delinsCT (p.Pro307=)
c.1028_1029delinsCT (p.Pro343=)
c.*118_*119delinsCT (n.*118_*119delinsCT)
c.983_984delinsCT (p.Pro328=)
17g.6425515G>ACA397394264AIPL1c.1100C>T (p.Pro367Leu)
c.911C>T (p.Pro304Leu)
c.*972C>T (n.*972C>T)
c.1034C>T (p.Pro345Leu)
c.251+8404C>T
c.1064C>T (p.Pro355Leu)
c.*1071C>T (n.*1071C>T)
c.920C>T (p.Pro307Leu)
c.1028C>T (p.Pro343Leu)
c.*118C>T (n.*118C>T)
c.983C>T (p.Pro328Leu)
 ClinVar dbSNP gnomAD v4
17g.6425515G>CCA397394263AIPL1c.1100C>G (p.Pro367Arg)
c.911C>G (p.Pro304Arg)
c.*972C>G (n.*972C>G)
c.1034C>G (p.Pro345Arg)
c.251+8404C>G
c.1064C>G (p.Pro355Arg)
c.*1071C>G (n.*1071C>G)
c.920C>G (p.Pro307Arg)
c.1028C>G (p.Pro343Arg)
c.*118C>G (n.*118C>G)
c.983C>G (p.Pro328Arg)
 dbSNP gnomAD v4
17g.6425515G=CA2245346590AIPL1c.1100C= (p.Pro367=)
c.911C= (p.Pro304=)
c.*972C= (n.*972C=)
c.1034C= (p.Pro345=)
c.251+8404C=
c.1064C= (p.Pro355=)
c.*1071C= (n.*1071C=)
c.920C= (p.Pro307=)
c.1028C= (p.Pro343=)
c.*118C= (n.*118C=)
c.983C= (p.Pro328=)
17g.6425515G>TCA397394265AIPL1c.1100C>A (p.Pro367His)
c.911C>A (p.Pro304His)
c.*972C>A (n.*972C>A)
c.1034C>A (p.Pro345His)
c.251+8404C>A
c.1064C>A (p.Pro355His)
c.*1071C>A (n.*1071C>A)
c.920C>A (p.Pro307His)
c.1028C>A (p.Pro343His)
c.*118C>A (n.*118C>A)
c.983C>A (p.Pro328His)
17g.6425519dupCA2635688836AIPL1c.1100dup (p.Ala368CysfsTer?)
c.911dup (p.Ala305CysfsTer?)
c.*972dup (n.*972dup)
c.1034dup (p.Ala346CysfsTer?)
c.251+8404dup
c.1064dup (p.Ala356CysfsTer?)
c.*1071dup (n.*1071dup)
c.920dup (p.Ala308CysfsTer?)
c.1028dup (p.Ala344CysfsTer?)
c.*118dup (n.*118dup)
c.983dup (p.Ala329CysfsTer?)
 gnomAD v4
17g.6425519delCA981100591AIPL1c.1100del (p.Pro367LeufsTer?)
c.911del (p.Pro304LeufsTer?)
c.*972del (n.*972del)
c.1034del (p.Pro345LeufsTer?)
c.251+8404del
c.1064del (p.Pro355LeufsTer?)
c.*1071del (n.*1071del)
c.920del (p.Pro307LeufsTer?)
c.1028del (p.Pro343LeufsTer?)
c.*118del (n.*118del)
c.983del (p.Pro328LeufsTer?)
 dbSNP gnomAD v4
17g.6425518_6425519delCA2808334419AIPL1c.1099_1100del (p.Pro367CysfsTer?)
c.910_911del (p.Pro304CysfsTer?)
c.*971_*972del (n.*971_*972del)
c.1033_1034del (p.Pro345CysfsTer?)
c.251+8403_251+8404del
c.1063_1064del (p.Pro355CysfsTer?)
c.*1070_*1071del (n.*1070_*1071del)
c.919_920del (p.Pro307CysfsTer?)
c.1027_1028del (p.Pro343CysfsTer?)
c.*117_*118del (n.*117_*118del)
c.982_983del (p.Pro328CysfsTer?)
17g.6425516G>ACA397394266AIPL1c.1099C>T (p.Pro367Ser)
c.910C>T (p.Pro304Ser)
c.*971C>T (n.*971C>T)
c.1033C>T (p.Pro345Ser)
c.251+8403C>T
c.1063C>T (p.Pro355Ser)
c.*1070C>T (n.*1070C>T)
c.919C>T (p.Pro307Ser)
c.1027C>T (p.Pro343Ser)
c.*117C>T (n.*117C>T)
c.982C>T (p.Pro328Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6425516G>CCA397394268AIPL1c.1099C>G (p.Pro367Ala)
c.910C>G (p.Pro304Ala)
c.*971C>G (n.*971C>G)
c.1033C>G (p.Pro345Ala)
c.251+8403C>G
c.1063C>G (p.Pro355Ala)
c.*1070C>G (n.*1070C>G)
c.919C>G (p.Pro307Ala)
c.1027C>G (p.Pro343Ala)
c.*117C>G (n.*117C>G)
c.982C>G (p.Pro328Ala)
 gnomAD v4
17g.6425516G=CA2245346595AIPL1c.1099C= (p.Pro367=)
c.910C= (p.Pro304=)
c.*971C= (n.*971C=)
c.1033C= (p.Pro345=)
c.251+8403C=
c.1063C= (p.Pro355=)
c.*1070C= (n.*1070C=)
c.919C= (p.Pro307=)
c.1027C= (p.Pro343=)
c.*117C= (n.*117C=)
c.982C= (p.Pro328=)
17g.6425516G>TCA397394267AIPL1c.1099C>A (p.Pro367Thr)
c.910C>A (p.Pro304Thr)
c.*971C>A (n.*971C>A)
c.1033C>A (p.Pro345Thr)
c.251+8403C>A
c.1063C>A (p.Pro355Thr)
c.*1070C>A (n.*1070C>A)
c.919C>A (p.Pro307Thr)
c.1027C>A (p.Pro343Thr)
c.*117C>A (n.*117C>A)
c.982C>A (p.Pro328Thr)
 gnomAD v4
17g.6425517G>ACA497687303AIPL1c.1098C>T (p.Pro366=)
c.909C>T (p.Pro303=)
c.*970C>T (n.*970C>T)
c.1032C>T (p.Pro344=)
c.251+8402C>T
c.1062C>T (p.Pro354=)
c.*1069C>T (n.*1069C>T)
c.918C>T (p.Pro306=)
c.1026C>T (p.Pro342=)
c.*116C>T (n.*116C>T)
c.981C>T (p.Pro327=)
17g.6425517G>CCA497687304AIPL1c.1098C>G (p.Pro366=)
c.909C>G (p.Pro303=)
c.*970C>G (n.*970C>G)
c.1032C>G (p.Pro344=)
c.251+8402C>G
c.1062C>G (p.Pro354=)
c.*1069C>G (n.*1069C>G)
c.918C>G (p.Pro306=)
c.1026C>G (p.Pro342=)
c.*116C>G (n.*116C>G)
c.981C>G (p.Pro327=)
17g.6425517G>TCA497687305AIPL1c.1098C>A (p.Pro366=)
c.909C>A (p.Pro303=)
c.*970C>A (n.*970C>A)
c.1032C>A (p.Pro344=)
c.251+8402C>A
c.1062C>A (p.Pro354=)
c.*1069C>A (n.*1069C>A)
c.918C>A (p.Pro306=)
c.1026C>A (p.Pro342=)
c.*116C>A (n.*116C>A)
c.981C>A (p.Pro327=)
 dbSNP gnomAD v4
17g.6425518G>ACA8328312AIPL1c.1097C>T (p.Pro366Leu)
c.908C>T (p.Pro303Leu)
c.*969C>T (n.*969C>T)
c.1031C>T (p.Pro344Leu)
c.251+8401C>T
c.1061C>T (p.Pro354Leu)
c.*1068C>T (n.*1068C>T)
c.917C>T (p.Pro306Leu)
c.1025C>T (p.Pro342Leu)
c.*115C>T (n.*115C>T)
c.980C>T (p.Pro327Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425518G>CCA397394269AIPL1c.1097C>G (p.Pro366Arg)
c.908C>G (p.Pro303Arg)
c.*969C>G (n.*969C>G)
c.1031C>G (p.Pro344Arg)
c.251+8401C>G
c.1061C>G (p.Pro354Arg)
c.*1068C>G (n.*1068C>G)
c.917C>G (p.Pro306Arg)
c.1025C>G (p.Pro342Arg)
c.*115C>G (n.*115C>G)
c.980C>G (p.Pro327Arg)
 gnomAD v4
17g.6425518G=CA2245346598AIPL1c.1097C= (p.Pro366=)
c.908C= (p.Pro303=)
c.*969C= (n.*969C=)
c.1031C= (p.Pro344=)
c.251+8401C=
c.1061C= (p.Pro354=)
c.*1068C= (n.*1068C=)
c.917C= (p.Pro306=)
c.1025C= (p.Pro342=)
c.*115C= (n.*115C=)
c.980C= (p.Pro327=)
17g.6425518G>TCA397394270AIPL1c.1097C>A (p.Pro366His)
c.908C>A (p.Pro303His)
c.*969C>A (n.*969C>A)
c.1031C>A (p.Pro344His)
c.251+8401C>A
c.1061C>A (p.Pro354His)
c.*1068C>A (n.*1068C>A)
c.917C>A (p.Pro306His)
c.1025C>A (p.Pro342His)
c.*115C>A (n.*115C>A)
c.980C>A (p.Pro327His)
 gnomAD v4
17g.6425519G>ACA397394271AIPL1c.1096C>T (p.Pro366Ser)
c.907C>T (p.Pro303Ser)
c.*968C>T (n.*968C>T)
c.1030C>T (p.Pro344Ser)
c.251+8400C>T
c.1060C>T (p.Pro354Ser)
c.*1067C>T (n.*1067C>T)
c.916C>T (p.Pro306Ser)
c.1024C>T (p.Pro342Ser)
c.*114C>T (n.*114C>T)
c.979C>T (p.Pro327Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.6425519G>CCA397394272AIPL1c.1096C>G (p.Pro366Ala)
c.907C>G (p.Pro303Ala)
c.*968C>G (n.*968C>G)
c.1030C>G (p.Pro344Ala)
c.251+8400C>G
c.1060C>G (p.Pro354Ala)
c.*1067C>G (n.*1067C>G)
c.916C>G (p.Pro306Ala)
c.1024C>G (p.Pro342Ala)
c.*114C>G (n.*114C>G)
c.979C>G (p.Pro327Ala)
17g.6425519G=CA2245346603AIPL1c.1096C= (p.Pro366=)
c.907C= (p.Pro303=)
c.*968C= (n.*968C=)
c.1030C= (p.Pro344=)
c.251+8400C=
c.1060C= (p.Pro354=)
c.*1067C= (n.*1067C=)
c.916C= (p.Pro306=)
c.1024C= (p.Pro342=)
c.*114C= (n.*114C=)
c.979C= (p.Pro327=)
17g.6425519G>TCA397394273AIPL1c.1096C>A (p.Pro366Thr)
c.907C>A (p.Pro303Thr)
c.*968C>A (n.*968C>A)
c.1030C>A (p.Pro344Thr)
c.251+8400C>A
c.1060C>A (p.Pro354Thr)
c.*1067C>A (n.*1067C>A)
c.916C>A (p.Pro306Thr)
c.1024C>A (p.Pro342Thr)
c.*114C>A (n.*114C>A)
c.979C>A (p.Pro327Thr)
 ClinVar dbSNP gnomAD v4
17g.6425520C>ACA497687307AIPL1c.1095G>T (p.Gly365=)
c.906G>T (p.Gly302=)
c.*967G>T (n.*967G>T)
c.1029G>T (p.Gly343=)
c.251+8399G>T
c.1059G>T (p.Gly353=)
c.*1066G>T (n.*1066G>T)
c.915G>T (p.Gly305=)
c.1023G>T (p.Gly341=)
c.*113G>T (n.*113G>T)
c.978G>T (p.Gly326=)
 ClinVar dbSNP
17g.6425520C=CA2245346606AIPL1c.1095G= (p.Gly365=)
c.906G= (p.Gly302=)
c.*967G= (n.*967G=)
c.1029G= (p.Gly343=)
c.251+8399G=
c.1059G= (p.Gly353=)
c.*1066G= (n.*1066G=)
c.915G= (p.Gly305=)
c.1023G= (p.Gly341=)
c.*113G= (n.*113G=)
c.978G= (p.Gly326=)
17g.6425520C>GCA497687308AIPL1c.1095G>C (p.Gly365=)
c.906G>C (p.Gly302=)
c.*967G>C (n.*967G>C)
c.1029G>C (p.Gly343=)
c.251+8399G>C
c.1059G>C (p.Gly353=)
c.*1066G>C (n.*1066G>C)
c.915G>C (p.Gly305=)
c.1023G>C (p.Gly341=)
c.*113G>C (n.*113G>C)
c.978G>C (p.Gly326=)
17g.6425520C>TCA497687306AIPL1c.1095G>A (p.Gly365=)
c.906G>A (p.Gly302=)
c.*967G>A (n.*967G>A)
c.1029G>A (p.Gly343=)
c.251+8399G>A
c.1059G>A (p.Gly353=)
c.*1066G>A (n.*1066G>A)
c.915G>A (p.Gly305=)
c.1023G>A (p.Gly341=)
c.*113G>A (n.*113G>A)
c.978G>A (p.Gly326=)
 gnomAD v4
17g.6425521C>ACA397394274AIPL1c.1094G>T (p.Gly365Val)
c.905G>T (p.Gly302Val)
c.*966G>T (n.*966G>T)
c.1028G>T (p.Gly343Val)
c.251+8398G>T
c.1058G>T (p.Gly353Val)
c.*1065G>T (n.*1065G>T)
c.914G>T (p.Gly305Val)
c.1022G>T (p.Gly341Val)
c.*112G>T (n.*112G>T)
c.977G>T (p.Gly326Val)
17g.6425521C>GCA397394275AIPL1c.1094G>C (p.Gly365Ala)
c.905G>C (p.Gly302Ala)
c.*966G>C (n.*966G>C)
c.1028G>C (p.Gly343Ala)
c.251+8398G>C
c.1058G>C (p.Gly353Ala)
c.*1065G>C (n.*1065G>C)
c.914G>C (p.Gly305Ala)
c.1022G>C (p.Gly341Ala)
c.*112G>C (n.*112G>C)
c.977G>C (p.Gly326Ala)
17g.6425521C>TCA397394276AIPL1c.1094G>A (p.Gly365Glu)
c.905G>A (p.Gly302Glu)
c.*966G>A (n.*966G>A)
c.1028G>A (p.Gly343Glu)
c.251+8398G>A
c.1058G>A (p.Gly353Glu)
c.*1065G>A (n.*1065G>A)
c.914G>A (p.Gly305Glu)
c.1022G>A (p.Gly341Glu)
c.*112G>A (n.*112G>A)
c.977G>A (p.Gly326Glu)
17g.6425522C>ACA397394277AIPL1c.1093G>T (p.Gly365Trp)
c.904G>T (p.Gly302Trp)
c.*965G>T (n.*965G>T)
c.1027G>T (p.Gly343Trp)
c.251+8397G>T
c.1057G>T (p.Gly353Trp)
c.*1064G>T (n.*1064G>T)
c.913G>T (p.Gly305Trp)
c.1021G>T (p.Gly341Trp)
c.*111G>T (n.*111G>T)
c.976G>T (p.Gly326Trp)
17g.6425522C>GCA397394278AIPL1c.1093G>C (p.Gly365Arg)
c.904G>C (p.Gly302Arg)
c.*965G>C (n.*965G>C)
c.1027G>C (p.Gly343Arg)
c.251+8397G>C
c.1057G>C (p.Gly353Arg)
c.*1064G>C (n.*1064G>C)
c.913G>C (p.Gly305Arg)
c.1021G>C (p.Gly341Arg)
c.*111G>C (n.*111G>C)
c.976G>C (p.Gly326Arg)
17g.6425522C>TCA397394279AIPL1c.1093G>A (p.Gly365Arg)
c.904G>A (p.Gly302Arg)
c.*965G>A (n.*965G>A)
c.1027G>A (p.Gly343Arg)
c.251+8397G>A
c.1057G>A (p.Gly353Arg)
c.*1064G>A (n.*1064G>A)
c.913G>A (p.Gly305Arg)
c.1021G>A (p.Gly341Arg)
c.*111G>A (n.*111G>A)
c.976G>A (p.Gly326Arg)
17g.6425523T>ACA497687309AIPL1c.1092A>T (p.Ala364=)
c.903A>T (p.Ala301=)
c.*964A>T (n.*964A>T)
c.1026A>T (p.Ala342=)
c.251+8396A>T
c.1056A>T (p.Ala352=)
c.*1063A>T (n.*1063A>T)
c.912A>T (p.Ala304=)
c.1020A>T (p.Ala340=)
c.*110A>T (n.*110A>T)
c.975A>T (p.Ala325=)
17g.6425523T>CCA497687310AIPL1c.1092A>G (p.Ala364=)
c.903A>G (p.Ala301=)
c.*964A>G (n.*964A>G)
c.1026A>G (p.Ala342=)
c.251+8396A>G
c.1056A>G (p.Ala352=)
c.*1063A>G (n.*1063A>G)
c.912A>G (p.Ala304=)
c.1020A>G (p.Ala340=)
c.*110A>G (n.*110A>G)
c.975A>G (p.Ala325=)
 gnomAD v4
17g.6425523T>GCA497687311AIPL1c.1092A>C (p.Ala364=)
c.903A>C (p.Ala301=)
c.*964A>C (n.*964A>C)
c.1026A>C (p.Ala342=)
c.251+8396A>C
c.1056A>C (p.Ala352=)
c.*1063A>C (n.*1063A>C)
c.912A>C (p.Ala304=)
c.1020A>C (p.Ala340=)
c.*110A>C (n.*110A>C)
c.975A>C (p.Ala325=)
17g.6425524G>ACA397394282AIPL1c.1091C>T (p.Ala364Val)
c.902C>T (p.Ala301Val)
c.*963C>T (n.*963C>T)
c.1025C>T (p.Ala342Val)
c.251+8395C>T
c.1055C>T (p.Ala352Val)
c.*1062C>T (n.*1062C>T)
c.911C>T (p.Ala304Val)
c.1019C>T (p.Ala340Val)
c.*109C>T (n.*109C>T)
c.974C>T (p.Ala325Val)
17g.6425524G>CCA397394280AIPL1c.1091C>G (p.Ala364Gly)
c.902C>G (p.Ala301Gly)
c.*963C>G (n.*963C>G)
c.1025C>G (p.Ala342Gly)
c.251+8395C>G
c.1055C>G (p.Ala352Gly)
c.*1062C>G (n.*1062C>G)
c.911C>G (p.Ala304Gly)
c.1019C>G (p.Ala340Gly)
c.*109C>G (n.*109C>G)
c.974C>G (p.Ala325Gly)
17g.6425524G>TCA397394281AIPL1c.1091C>A (p.Ala364Glu)
c.902C>A (p.Ala301Glu)
c.*963C>A (n.*963C>A)
c.1025C>A (p.Ala342Glu)
c.251+8395C>A
c.1055C>A (p.Ala352Glu)
c.*1062C>A (n.*1062C>A)
c.911C>A (p.Ala304Glu)
c.1019C>A (p.Ala340Glu)
c.*109C>A (n.*109C>A)
c.974C>A (p.Ala325Glu)
 gnomAD v4
17g.6425525C>ACA8328313AIPL1c.1090G>T (p.Ala364Ser)
c.901G>T (p.Ala301Ser)
c.*962G>T (n.*962G>T)
c.1024G>T (p.Ala342Ser)
c.251+8394G>T
c.1054G>T (p.Ala352Ser)
c.*1061G>T (n.*1061G>T)
c.910G>T (p.Ala304Ser)
c.1018G>T (p.Ala340Ser)
c.*108G>T (n.*108G>T)
c.973G>T (p.Ala325Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425525C=CA2245346612AIPL1c.1090G= (p.Ala364=)
c.901G= (p.Ala301=)
c.*962G= (n.*962G=)
c.1024G= (p.Ala342=)
c.251+8394G=
c.1054G= (p.Ala352=)
c.*1061G= (n.*1061G=)
c.910G= (p.Ala304=)
c.1018G= (p.Ala340=)
c.*108G= (n.*108G=)
c.973G= (p.Ala325=)
17g.6425525C>GCA397394283AIPL1c.1090G>C (p.Ala364Pro)
c.901G>C (p.Ala301Pro)
c.*962G>C (n.*962G>C)
c.1024G>C (p.Ala342Pro)
c.251+8394G>C
c.1054G>C (p.Ala352Pro)
c.*1061G>C (n.*1061G>C)
c.910G>C (p.Ala304Pro)
c.1018G>C (p.Ala340Pro)
c.*108G>C (n.*108G>C)
c.973G>C (p.Ala325Pro)
 gnomAD v4
17g.6425525C>TCA8328314AIPL1c.1090G>A (p.Ala364Thr)
c.901G>A (p.Ala301Thr)
c.*962G>A (n.*962G>A)
c.1024G>A (p.Ala342Thr)
c.251+8394G>A
c.1054G>A (p.Ala352Thr)
c.*1061G>A (n.*1061G>A)
c.910G>A (p.Ala304Thr)
c.1018G>A (p.Ala340Thr)
c.*108G>A (n.*108G>A)
c.973G>A (p.Ala325Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.6425526G>ACA497687312AIPL1c.1089C>T (p.Ser363=)
c.900C>T (p.Ser300=)
c.*961C>T (n.*961C>T)
c.1023C>T (p.Ser341=)
c.251+8393C>T
c.1053C>T (p.Ser351=)
c.*1060C>T (n.*1060C>T)
c.909C>T (p.Ser303=)
c.1017C>T (p.Ser339=)
c.*107C>T (n.*107C>T)
c.972C>T (p.Ser324=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425526G>CCA497687313AIPL1c.1089C>G (p.Ser363=)
c.900C>G (p.Ser300=)
c.*961C>G (n.*961C>G)
c.1023C>G (p.Ser341=)
c.251+8393C>G
c.1053C>G (p.Ser351=)
c.*1060C>G (n.*1060C>G)
c.909C>G (p.Ser303=)
c.1017C>G (p.Ser339=)
c.*107C>G (n.*107C>G)
c.972C>G (p.Ser324=)
 dbSNP gnomAD v3 gnomAD v4
17g.6425526G=CA2245346621AIPL1c.1089C= (p.Ser363=)
c.900C= (p.Ser300=)
c.*961C= (n.*961C=)
c.1023C= (p.Ser341=)
c.251+8393C=
c.1053C= (p.Ser351=)
c.*1060C= (n.*1060C=)
c.909C= (p.Ser303=)
c.1017C= (p.Ser339=)
c.*107C= (n.*107C=)
c.972C= (p.Ser324=)
17g.6425526G>TCA497687314AIPL1c.1089C>A (p.Ser363=)
c.900C>A (p.Ser300=)
c.*961C>A (n.*961C>A)
c.1023C>A (p.Ser341=)
c.251+8393C>A
c.1053C>A (p.Ser351=)
c.*1060C>A (n.*1060C>A)
c.909C>A (p.Ser303=)
c.1017C>A (p.Ser339=)
c.*107C>A (n.*107C>A)
c.972C>A (p.Ser324=)
17g.6425527G>ACA397394284AIPL1c.1088C>T (p.Ser363Phe)
c.899C>T (p.Ser300Phe)
c.*960C>T (n.*960C>T)
c.1022C>T (p.Ser341Phe)
c.251+8392C>T
c.1052C>T (p.Ser351Phe)
c.*1059C>T (n.*1059C>T)
c.908C>T (p.Ser303Phe)
c.1016C>T (p.Ser339Phe)
c.*106C>T (n.*106C>T)
c.971C>T (p.Ser324Phe)
 dbSNP gnomAD v4
17g.6425527G>CCA397394285AIPL1c.1088C>G (p.Ser363Cys)
c.899C>G (p.Ser300Cys)
c.*960C>G (n.*960C>G)
c.1022C>G (p.Ser341Cys)
c.251+8392C>G
c.1052C>G (p.Ser351Cys)
c.*1059C>G (n.*1059C>G)
c.908C>G (p.Ser303Cys)
c.1016C>G (p.Ser339Cys)
c.*106C>G (n.*106C>G)
c.971C>G (p.Ser324Cys)
17g.6425527G=CA2245346623AIPL1c.1088C= (p.Ser363=)
c.899C= (p.Ser300=)
c.*960C= (n.*960C=)
c.1022C= (p.Ser341=)
c.251+8392C=
c.1052C= (p.Ser351=)
c.*1059C= (n.*1059C=)
c.908C= (p.Ser303=)
c.1016C= (p.Ser339=)
c.*106C= (n.*106C=)
c.971C= (p.Ser324=)
17g.6425527G>TCA397394286AIPL1c.1088C>A (p.Ser363Tyr)
c.899C>A (p.Ser300Tyr)
c.*960C>A (n.*960C>A)
c.1022C>A (p.Ser341Tyr)
c.251+8392C>A
c.1052C>A (p.Ser351Tyr)
c.*1059C>A (n.*1059C>A)
c.908C>A (p.Ser303Tyr)
c.1016C>A (p.Ser339Tyr)
c.*106C>A (n.*106C>A)
c.971C>A (p.Ser324Tyr)
17g.6425528delCA2635688837AIPL1c.1087del (p.Ser363ProfsTer?)
c.898del (p.Ser300ProfsTer?)
c.*959del (n.*959del)
c.1021del (p.Ser341ProfsTer?)
c.251+8391del
c.1051del (p.Ser351ProfsTer?)
c.*1058del (n.*1058del)
c.907del (p.Ser303ProfsTer?)
c.1015del (p.Ser339ProfsTer?)
c.*105del (n.*105del)
c.970del (p.Ser324ProfsTer?)
 gnomAD v4
17g.6425528A>CCA397394287AIPL1c.1087T>G (p.Ser363Ala)
c.898T>G (p.Ser300Ala)
c.*959T>G (n.*959T>G)
c.1021T>G (p.Ser341Ala)
c.251+8391T>G
c.1051T>G (p.Ser351Ala)
c.*1058T>G (n.*1058T>G)
c.907T>G (p.Ser303Ala)
c.1015T>G (p.Ser339Ala)
c.*105T>G (n.*105T>G)
c.970T>G (p.Ser324Ala)
17g.6425528A>GCA397394288AIPL1c.1087T>C (p.Ser363Pro)
c.898T>C (p.Ser300Pro)
c.*959T>C (n.*959T>C)
c.1021T>C (p.Ser341Pro)
c.251+8391T>C
c.1051T>C (p.Ser351Pro)
c.*1058T>C (n.*1058T>C)
c.907T>C (p.Ser303Pro)
c.1015T>C (p.Ser339Pro)
c.*105T>C (n.*105T>C)
c.970T>C (p.Ser324Pro)
 gnomAD v4
17g.6425528A>TCA397394289AIPL1c.1087T>A (p.Ser363Thr)
c.898T>A (p.Ser300Thr)
c.*959T>A (n.*959T>A)
c.1021T>A (p.Ser341Thr)
c.251+8391T>A
c.1051T>A (p.Ser351Thr)
c.*1058T>A (n.*1058T>A)
c.907T>A (p.Ser303Thr)
c.1015T>A (p.Ser339Thr)
c.*105T>A (n.*105T>A)
c.970T>A (p.Ser324Thr)
 gnomAD v4
17g.6425529C>ACA497687315AIPL1c.1086G>T (p.Leu362=)
c.897G>T (p.Leu299=)
c.*958G>T (n.*958G>T)
c.1020G>T (p.Leu340=)
c.251+8390G>T
c.1050G>T (p.Leu350=)
c.*1057G>T (n.*1057G>T)
c.906G>T (p.Leu302=)
c.1014G>T (p.Leu338=)
c.*104G>T (n.*104G>T)
c.969G>T (p.Leu323=)
17g.6425529C=CA2245346625AIPL1c.1086G= (p.Leu362=)
c.897G= (p.Leu299=)
c.*958G= (n.*958G=)
c.1020G= (p.Leu340=)
c.251+8390G=
c.1050G= (p.Leu350=)
c.*1057G= (n.*1057G=)
c.906G= (p.Leu302=)
c.1014G= (p.Leu338=)
c.*104G= (n.*104G=)
c.969G= (p.Leu323=)
17g.6425529C>GCA497687316AIPL1c.1086G>C (p.Leu362=)
c.897G>C (p.Leu299=)
c.*958G>C (n.*958G>C)
c.1020G>C (p.Leu340=)
c.251+8390G>C
c.1050G>C (p.Leu350=)
c.*1057G>C (n.*1057G>C)
c.906G>C (p.Leu302=)
c.1014G>C (p.Leu338=)
c.*104G>C (n.*104G>C)
c.969G>C (p.Leu323=)
17g.6425529C>TCA497687317AIPL1c.1086G>A (p.Leu362=)
c.897G>A (p.Leu299=)
c.*958G>A (n.*958G>A)
c.1020G>A (p.Leu340=)
c.251+8390G>A
c.1050G>A (p.Leu350=)
c.*1057G>A (n.*1057G>A)
c.906G>A (p.Leu302=)
c.1014G>A (p.Leu338=)
c.*104G>A (n.*104G>A)
c.969G>A (p.Leu323=)
 dbSNP gnomAD v3 gnomAD v4
17g.6425529_6425553delinsCAGCTCTGCAGATGGTGCTGTGGGTCA2245346626AIPL1c.1062_1086delinsACCCACAGCACCATCTGCAGAGCTG (p.Pro354=)
c.873_897delinsACCCACAGCACCATCTGCAGAGCTG (p.Pro291=)
c.*934_*958delinsACCCACAGCACCATCTGCAGAGCTG (n.*934_*958delinsACCCACAGCACCATCTGCAGAGCTG)
c.996_1020delinsACCCACAGCACCATCTGCAGAGCTG (p.Pro332=)
c.251+8366_251+8390delinsACCCACAGCACCATCTGCAGAGCTG
c.1026_1050delinsACCCACAGCACCATCTGCAGAGCTG (p.Pro342=)
c.*1033_*1057delinsACCCACAGCACCATCTGCAGAGCTG (n.*1033_*1057delinsACCCACAGCACCATCTGCAGAGCTG)
c.882_906delinsACCCACAGCACCATCTGCAGAGCTG (p.Pro294=)
c.990_1014delinsACCCACAGCACCATCTGCAGAGCTG (p.Pro330=)
c.*80_*104delinsACCCACAGCACCATCTGCAGAGCTG (n.*80_*104delinsACCCACAGCACCATCTGCAGAGCTG)
c.945_969delinsACCCACAGCACCATCTGCAGAGCTG (p.Pro315=)
17g.6425530A=CA2245346629AIPL1c.1085T= (p.Leu362=)
c.896T= (p.Leu299=)
c.*957T= (n.*957T=)
c.1019T= (p.Leu340=)
c.251+8389T=
c.1049T= (p.Leu350=)
c.*1056T= (n.*1056T=)
c.905T= (p.Leu302=)
c.1013T= (p.Leu338=)
c.*103T= (n.*103T=)
c.968T= (p.Leu323=)
17g.6425530A>CCA8328315AIPL1c.1085T>G (p.Leu362Arg)
c.896T>G (p.Leu299Arg)
c.*957T>G (n.*957T>G)
c.1019T>G (p.Leu340Arg)
c.251+8389T>G
c.1049T>G (p.Leu350Arg)
c.*1056T>G (n.*1056T>G)
c.905T>G (p.Leu302Arg)
c.1013T>G (p.Leu338Arg)
c.*103T>G (n.*103T>G)
c.968T>G (p.Leu323Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425530A>GCA397394290AIPL1c.1085T>C (p.Leu362Pro)
c.896T>C (p.Leu299Pro)
c.*957T>C (n.*957T>C)
c.1019T>C (p.Leu340Pro)
c.251+8389T>C
c.1049T>C (p.Leu350Pro)
c.*1056T>C (n.*1056T>C)
c.905T>C (p.Leu302Pro)
c.1013T>C (p.Leu338Pro)
c.*103T>C (n.*103T>C)
c.968T>C (p.Leu323Pro)
17g.6425530A>TCA397394291AIPL1c.1085T>A (p.Leu362Gln)
c.896T>A (p.Leu299Gln)
c.*957T>A (n.*957T>A)
c.1019T>A (p.Leu340Gln)
c.251+8389T>A
c.1049T>A (p.Leu350Gln)
c.*1056T>A (n.*1056T>A)
c.905T>A (p.Leu302Gln)
c.1013T>A (p.Leu338Gln)
c.*103T>A (n.*103T>A)
c.968T>A (p.Leu323Gln)
17g.6425530_6425553delCA2245346628AIPL1c.1062_1085del (p.Pro355_Leu362del)
c.873_896del (p.Pro292_Leu299del)
c.*934_*957del (n.*934_*957del)
c.996_1019del (p.Pro333_Leu340del)
c.251+8366_251+8389del
c.1026_1049del (p.Pro343_Leu350del)
c.*1033_*1056del (n.*1033_*1056del)
c.882_905del (p.Pro295_Leu302del)
c.990_1013del (p.Pro331_Leu338del)
c.*80_*103del (n.*80_*103del)
c.945_968del (p.Pro316_Leu323del)
 dbSNP
17g.6425531G>ACA497687318AIPL1c.1084C>T (p.Leu362=)
c.895C>T (p.Leu299=)
c.*956C>T (n.*956C>T)
c.1018C>T (p.Leu340=)
c.251+8388C>T
c.1048C>T (p.Leu350=)
c.*1055C>T (n.*1055C>T)
c.904C>T (p.Leu302=)
c.1012C>T (p.Leu338=)
c.*102C>T (n.*102C>T)
c.967C>T (p.Leu323=)
 ClinVar
17g.6425531G>CCA397394293AIPL1c.1084C>G (p.Leu362Val)
c.895C>G (p.Leu299Val)
c.*956C>G (n.*956C>G)
c.1018C>G (p.Leu340Val)
c.251+8388C>G
c.1048C>G (p.Leu350Val)
c.*1055C>G (n.*1055C>G)
c.904C>G (p.Leu302Val)
c.1012C>G (p.Leu338Val)
c.*102C>G (n.*102C>G)
c.967C>G (p.Leu323Val)
 gnomAD v4
17g.6425531G>TCA397394292AIPL1c.1084C>A (p.Leu362Met)
c.895C>A (p.Leu299Met)
c.*956C>A (n.*956C>A)
c.1018C>A (p.Leu340Met)
c.251+8388C>A
c.1048C>A (p.Leu350Met)
c.*1055C>A (n.*1055C>A)
c.904C>A (p.Leu302Met)
c.1012C>A (p.Leu338Met)
c.*102C>A (n.*102C>A)
c.967C>A (p.Leu323Met)
17g.6425532C>ACA397394294AIPL1c.1083G>T (p.Glu361Asp)
c.894G>T (p.Glu298Asp)
c.*955G>T (n.*955G>T)
c.1017G>T (p.Glu339Asp)
c.251+8387G>T
c.1047G>T (p.Glu349Asp)
c.*1054G>T (n.*1054G>T)
c.903G>T (p.Glu301Asp)
c.1011G>T (p.Glu337Asp)
c.*101G>T (n.*101G>T)
c.966G>T (p.Glu322Asp)
17g.6425532C=CA2245346635AIPL1c.1083G= (p.Glu361=)
c.894G= (p.Glu298=)
c.*955G= (n.*955G=)
c.1017G= (p.Glu339=)
c.251+8387G=
c.1047G= (p.Glu349=)
c.*1054G= (n.*1054G=)
c.903G= (p.Glu301=)
c.1011G= (p.Glu337=)
c.*101G= (n.*101G=)
c.966G= (p.Glu322=)
17g.6425532C>GCA397394295AIPL1c.1083G>C (p.Glu361Asp)
c.894G>C (p.Glu298Asp)
c.*955G>C (n.*955G>C)
c.1017G>C (p.Glu339Asp)
c.251+8387G>C
c.1047G>C (p.Glu349Asp)
c.*1054G>C (n.*1054G>C)
c.903G>C (p.Glu301Asp)
c.1011G>C (p.Glu337Asp)
c.*101G>C (n.*101G>C)
c.966G>C (p.Glu322Asp)
17g.6425532C>TCA287323663AIPL1c.1083G>A (p.Glu361=)
c.894G>A (p.Glu298=)
c.*955G>A (n.*955G>A)
c.1017G>A (p.Glu339=)
c.251+8387G>A
c.1047G>A (p.Glu349=)
c.*1054G>A (n.*1054G>A)
c.903G>A (p.Glu301=)
c.1011G>A (p.Glu337=)
c.*101G>A (n.*101G>A)
c.966G>A (p.Glu322=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425533T>ACA397394296AIPL1c.1082A>T (p.Glu361Val)
c.893A>T (p.Glu298Val)
c.*954A>T (n.*954A>T)
c.1016A>T (p.Glu339Val)
c.251+8386A>T
c.1046A>T (p.Glu349Val)
c.*1053A>T (n.*1053A>T)
c.902A>T (p.Glu301Val)
c.1010A>T (p.Glu337Val)
c.*100A>T (n.*100A>T)
c.965A>T (p.Glu322Val)
17g.6425533T>CCA397394297AIPL1c.1082A>G (p.Glu361Gly)
c.893A>G (p.Glu298Gly)
c.*954A>G (n.*954A>G)
c.1016A>G (p.Glu339Gly)
c.251+8386A>G
c.1046A>G (p.Glu349Gly)
c.*1053A>G (n.*1053A>G)
c.902A>G (p.Glu301Gly)
c.1010A>G (p.Glu337Gly)
c.*100A>G (n.*100A>G)
c.965A>G (p.Glu322Gly)
17g.6425533T>GCA397394298AIPL1c.1082A>C (p.Glu361Ala)
c.893A>C (p.Glu298Ala)
c.*954A>C (n.*954A>C)
c.1016A>C (p.Glu339Ala)
c.251+8386A>C
c.1046A>C (p.Glu349Ala)
c.*1053A>C (n.*1053A>C)
c.902A>C (p.Glu301Ala)
c.1010A>C (p.Glu337Ala)
c.*100A>C (n.*100A>C)
c.965A>C (p.Glu322Ala)
17g.6425534C>ACA397394301AIPL1c.1081G>T (p.Glu361Ter)
c.892G>T (p.Glu298Ter)
c.*953G>T (n.*953G>T)
c.1015G>T (p.Glu339Ter)
c.251+8385G>T
c.1045G>T (p.Glu349Ter)
c.*1052G>T (n.*1052G>T)
c.901G>T (p.Glu301Ter)
c.1009G>T (p.Glu337Ter)
c.*99G>T (n.*99G>T)
c.964G>T (p.Glu322Ter)
17g.6425534C=CA2245346637AIPL1c.1081G= (p.Glu361=)
c.892G= (p.Glu298=)
c.*953G= (n.*953G=)
c.1015G= (p.Glu339=)
c.251+8385G=
c.1045G= (p.Glu349=)
c.*1052G= (n.*1052G=)
c.901G= (p.Glu301=)
c.1009G= (p.Glu337=)
c.*99G= (n.*99G=)
c.964G= (p.Glu322=)
17g.6425534C>GCA397394300AIPL1c.1081G>C (p.Glu361Gln)
c.892G>C (p.Glu298Gln)
c.*953G>C (n.*953G>C)
c.1015G>C (p.Glu339Gln)
c.251+8385G>C
c.1045G>C (p.Glu349Gln)
c.*1052G>C (n.*1052G>C)
c.901G>C (p.Glu301Gln)
c.1009G>C (p.Glu337Gln)
c.*99G>C (n.*99G>C)
c.964G>C (p.Glu322Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425534C>TCA397394299AIPL1c.1081G>A (p.Glu361Lys)
c.892G>A (p.Glu298Lys)
c.*953G>A (n.*953G>A)
c.1015G>A (p.Glu339Lys)
c.251+8385G>A
c.1045G>A (p.Glu349Lys)
c.*1052G>A (n.*1052G>A)
c.901G>A (p.Glu301Lys)
c.1009G>A (p.Glu337Lys)
c.*99G>A (n.*99G>A)
c.964G>A (p.Glu322Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6425535T>ACA497687319AIPL1c.1080A>T (p.Ala360=)
c.891A>T (p.Ala297=)
c.*952A>T (n.*952A>T)
c.1014A>T (p.Ala338=)
c.251+8384A>T
c.1044A>T (p.Ala348=)
c.*1051A>T (n.*1051A>T)
c.900A>T (p.Ala300=)
c.1008A>T (p.Ala336=)
c.*98A>T (n.*98A>T)
c.963A>T (p.Ala321=)
17g.6425535T>CCA497687320AIPL1c.1080A>G (p.Ala360=)
c.891A>G (p.Ala297=)
c.*952A>G (n.*952A>G)
c.1014A>G (p.Ala338=)
c.251+8384A>G
c.1044A>G (p.Ala348=)
c.*1051A>G (n.*1051A>G)
c.900A>G (p.Ala300=)
c.1008A>G (p.Ala336=)
c.*98A>G (n.*98A>G)
c.963A>G (p.Ala321=)
 dbSNP
17g.6425535T>GCA497687321AIPL1c.1080A>C (p.Ala360=)
c.891A>C (p.Ala297=)
c.*952A>C (n.*952A>C)
c.1014A>C (p.Ala338=)
c.251+8384A>C
c.1044A>C (p.Ala348=)
c.*1051A>C (n.*1051A>C)
c.900A>C (p.Ala300=)
c.1008A>C (p.Ala336=)
c.*98A>C (n.*98A>C)
c.963A>C (p.Ala321=)
 ClinVar
17g.6425535T=CA2245346641AIPL1c.1080A= (p.Ala360=)
c.891A= (p.Ala297=)
c.*952A= (n.*952A=)
c.1014A= (p.Ala338=)
c.251+8384A=
c.1044A= (p.Ala348=)
c.*1051A= (n.*1051A=)
c.900A= (p.Ala300=)
c.1008A= (p.Ala336=)
c.*98A= (n.*98A=)
c.963A= (p.Ala321=)
17g.6425536G>ACA397394302AIPL1c.1079C>T (p.Ala360Val)
c.890C>T (p.Ala297Val)
c.*951C>T (n.*951C>T)
c.1013C>T (p.Ala338Val)
c.251+8383C>T
c.1043C>T (p.Ala348Val)
c.*1050C>T (n.*1050C>T)
c.899C>T (p.Ala300Val)
c.1007C>T (p.Ala336Val)
c.*97C>T (n.*97C>T)
c.962C>T (p.Ala321Val)
17g.6425536G>CCA397394303AIPL1c.1079C>G (p.Ala360Gly)
c.890C>G (p.Ala297Gly)
c.*951C>G (n.*951C>G)
c.1013C>G (p.Ala338Gly)
c.251+8383C>G
c.1043C>G (p.Ala348Gly)
c.*1050C>G (n.*1050C>G)
c.899C>G (p.Ala300Gly)
c.1007C>G (p.Ala336Gly)
c.*97C>G (n.*97C>G)
c.962C>G (p.Ala321Gly)
17g.6425536G>TCA397394304AIPL1c.1079C>A (p.Ala360Glu)
c.890C>A (p.Ala297Glu)
c.*951C>A (n.*951C>A)
c.1013C>A (p.Ala338Glu)
c.251+8383C>A
c.1043C>A (p.Ala348Glu)
c.*1050C>A (n.*1050C>A)
c.899C>A (p.Ala300Glu)
c.1007C>A (p.Ala336Glu)
c.*97C>A (n.*97C>A)
c.962C>A (p.Ala321Glu)
 gnomAD v4
17g.6425537C>ACA397394305AIPL1c.1078G>T (p.Ala360Ser)
c.889G>T (p.Ala297Ser)
c.*950G>T (n.*950G>T)
c.1012G>T (p.Ala338Ser)
c.251+8382G>T
c.1042G>T (p.Ala348Ser)
c.*1049G>T (n.*1049G>T)
c.898G>T (p.Ala300Ser)
c.1006G>T (p.Ala336Ser)
c.*96G>T (n.*96G>T)
c.961G>T (p.Ala321Ser)
17g.6425537C>GCA397394306AIPL1c.1078G>C (p.Ala360Pro)
c.889G>C (p.Ala297Pro)
c.*950G>C (n.*950G>C)
c.1012G>C (p.Ala338Pro)
c.251+8382G>C
c.1042G>C (p.Ala348Pro)
c.*1049G>C (n.*1049G>C)
c.898G>C (p.Ala300Pro)
c.1006G>C (p.Ala336Pro)
c.*96G>C (n.*96G>C)
c.961G>C (p.Ala321Pro)
17g.6425537C>TCA397394307AIPL1c.1078G>A (p.Ala360Thr)
c.889G>A (p.Ala297Thr)
c.*950G>A (n.*950G>A)
c.1012G>A (p.Ala338Thr)
c.251+8382G>A
c.1042G>A (p.Ala348Thr)
c.*1049G>A (n.*1049G>A)
c.898G>A (p.Ala300Thr)
c.1006G>A (p.Ala336Thr)
c.*96G>A (n.*96G>A)
c.961G>A (p.Ala321Thr)
 gnomAD v4
17g.6425538A>CCA497687322AIPL1c.1077T>G (p.Ser359=)
c.888T>G (p.Ser296=)
c.*949T>G (n.*949T>G)
c.1011T>G (p.Ser337=)
c.251+8381T>G
c.1041T>G (p.Ser347=)
c.*1048T>G (n.*1048T>G)
c.897T>G (p.Ser299=)
c.1005T>G (p.Ser335=)
c.*95T>G (n.*95T>G)
c.960T>G (p.Ser320=)
17g.6425538A>GCA497687323AIPL1c.1077T>C (p.Ser359=)
c.888T>C (p.Ser296=)
c.*949T>C (n.*949T>C)
c.1011T>C (p.Ser337=)
c.251+8381T>C
c.1041T>C (p.Ser347=)
c.*1048T>C (n.*1048T>C)
c.897T>C (p.Ser299=)
c.1005T>C (p.Ser335=)
c.*95T>C (n.*95T>C)
c.960T>C (p.Ser320=)
 gnomAD v4
17g.6425538A>TCA497687324AIPL1c.1077T>A (p.Ser359=)
c.888T>A (p.Ser296=)
c.*949T>A (n.*949T>A)
c.1011T>A (p.Ser337=)
c.251+8381T>A
c.1041T>A (p.Ser347=)
c.*1048T>A (n.*1048T>A)
c.897T>A (p.Ser299=)
c.1005T>A (p.Ser335=)
c.*95T>A (n.*95T>A)
c.960T>A (p.Ser320=)
17g.6425539G>ACA397394310AIPL1c.1076C>T (p.Ser359Phe)
c.887C>T (p.Ser296Phe)
c.*948C>T (n.*948C>T)
c.1010C>T (p.Ser337Phe)
c.251+8380C>T
c.1040C>T (p.Ser347Phe)
c.*1047C>T (n.*1047C>T)
c.896C>T (p.Ser299Phe)
c.1004C>T (p.Ser335Phe)
c.*94C>T (n.*94C>T)
c.959C>T (p.Ser320Phe)
 gnomAD v4
17g.6425539G>CCA397394308AIPL1c.1076C>G (p.Ser359Cys)
c.887C>G (p.Ser296Cys)
c.*948C>G (n.*948C>G)
c.1010C>G (p.Ser337Cys)
c.251+8380C>G
c.1040C>G (p.Ser347Cys)
c.*1047C>G (n.*1047C>G)
c.896C>G (p.Ser299Cys)
c.1004C>G (p.Ser335Cys)
c.*94C>G (n.*94C>G)
c.959C>G (p.Ser320Cys)
17g.6425539G>TCA397394309AIPL1c.1076C>A (p.Ser359Tyr)
c.887C>A (p.Ser296Tyr)
c.*948C>A (n.*948C>A)
c.1010C>A (p.Ser337Tyr)
c.251+8380C>A
c.1040C>A (p.Ser347Tyr)
c.*1047C>A (n.*1047C>A)
c.896C>A (p.Ser299Tyr)
c.1004C>A (p.Ser335Tyr)
c.*94C>A (n.*94C>A)
c.959C>A (p.Ser320Tyr)
17g.6425540A=CA2245346646AIPL1c.1075T= (p.Ser359=)
c.886T= (p.Ser296=)
c.*947T= (n.*947T=)
c.1009T= (p.Ser337=)
c.251+8379T=
c.1039T= (p.Ser347=)
c.*1046T= (n.*1046T=)
c.895T= (p.Ser299=)
c.1003T= (p.Ser335=)
c.*93T= (n.*93T=)
c.958T= (p.Ser320=)
17g.6425540A>CCA397394311AIPL1c.1075T>G (p.Ser359Ala)
c.886T>G (p.Ser296Ala)
c.*947T>G (n.*947T>G)
c.1009T>G (p.Ser337Ala)
c.251+8379T>G
c.1039T>G (p.Ser347Ala)
c.*1046T>G (n.*1046T>G)
c.895T>G (p.Ser299Ala)
c.1003T>G (p.Ser335Ala)
c.*93T>G (n.*93T>G)
c.958T>G (p.Ser320Ala)
17g.6425540A>GCA8328316AIPL1c.1075T>C (p.Ser359Pro)
c.886T>C (p.Ser296Pro)
c.*947T>C (n.*947T>C)
c.1009T>C (p.Ser337Pro)
c.251+8379T>C
c.1039T>C (p.Ser347Pro)
c.*1046T>C (n.*1046T>C)
c.895T>C (p.Ser299Pro)
c.1003T>C (p.Ser335Pro)
c.*93T>C (n.*93T>C)
c.958T>C (p.Ser320Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425540A>TCA397394312AIPL1c.1075T>A (p.Ser359Thr)
c.886T>A (p.Ser296Thr)
c.*947T>A (n.*947T>A)
c.1009T>A (p.Ser337Thr)
c.251+8379T>A
c.1039T>A (p.Ser347Thr)
c.*1046T>A (n.*1046T>A)
c.895T>A (p.Ser299Thr)
c.1003T>A (p.Ser335Thr)
c.*93T>A (n.*93T>A)
c.958T>A (p.Ser320Thr)
17g.6425541T>ACA497687327AIPL1c.1074A>T (p.Pro358=)
c.885A>T (p.Pro295=)
c.*946A>T (n.*946A>T)
c.1008A>T (p.Pro336=)
c.251+8378A>T
c.1038A>T (p.Pro346=)
c.*1045A>T (n.*1045A>T)
c.894A>T (p.Pro298=)
c.1002A>T (p.Pro334=)
c.*92A>T (n.*92A>T)
c.957A>T (p.Pro319=)
17g.6425541T>CCA497687326AIPL1c.1074A>G (p.Pro358=)
c.885A>G (p.Pro295=)
c.*946A>G (n.*946A>G)
c.1008A>G (p.Pro336=)
c.251+8378A>G
c.1038A>G (p.Pro346=)
c.*1045A>G (n.*1045A>G)
c.894A>G (p.Pro298=)
c.1002A>G (p.Pro334=)
c.*92A>G (n.*92A>G)
c.957A>G (p.Pro319=)
 ClinVar dbSNP
17g.6425541T>GCA497687325AIPL1c.1074A>C (p.Pro358=)
c.885A>C (p.Pro295=)
c.*946A>C (n.*946A>C)
c.1008A>C (p.Pro336=)
c.251+8378A>C
c.1038A>C (p.Pro346=)
c.*1045A>C (n.*1045A>C)
c.894A>C (p.Pro298=)
c.1002A>C (p.Pro334=)
c.*92A>C (n.*92A>C)
c.957A>C (p.Pro319=)
17g.6425542G>ACA397394313AIPL1c.1073C>T (p.Pro358Leu)
c.884C>T (p.Pro295Leu)
c.*945C>T (n.*945C>T)
c.1007C>T (p.Pro336Leu)
c.251+8377C>T
c.1037C>T (p.Pro346Leu)
c.*1044C>T (n.*1044C>T)
c.893C>T (p.Pro298Leu)
c.1001C>T (p.Pro334Leu)
c.*91C>T (n.*91C>T)
c.956C>T (p.Pro319Leu)
 COSMIC
17g.6425542G>CCA397394314AIPL1c.1073C>G (p.Pro358Arg)
c.884C>G (p.Pro295Arg)
c.*945C>G (n.*945C>G)
c.1007C>G (p.Pro336Arg)
c.251+8377C>G
c.1037C>G (p.Pro346Arg)
c.*1044C>G (n.*1044C>G)
c.893C>G (p.Pro298Arg)
c.1001C>G (p.Pro334Arg)
c.*91C>G (n.*91C>G)
c.956C>G (p.Pro319Arg)
17g.6425542G>TCA397394315AIPL1c.1073C>A (p.Pro358Gln)
c.884C>A (p.Pro295Gln)
c.*945C>A (n.*945C>A)
c.1007C>A (p.Pro336Gln)
c.251+8377C>A
c.1037C>A (p.Pro346Gln)
c.*1044C>A (n.*1044C>A)
c.893C>A (p.Pro298Gln)
c.1001C>A (p.Pro334Gln)
c.*91C>A (n.*91C>A)
c.956C>A (p.Pro319Gln)
 gnomAD v4
17g.6425543G>ACA397394316AIPL1c.1072C>T (p.Pro358Ser)
c.883C>T (p.Pro295Ser)
c.*944C>T (n.*944C>T)
c.1006C>T (p.Pro336Ser)
c.251+8376C>T
c.1036C>T (p.Pro346Ser)
c.*1043C>T (n.*1043C>T)
c.892C>T (p.Pro298Ser)
c.1000C>T (p.Pro334Ser)
c.*90C>T (n.*90C>T)
c.955C>T (p.Pro319Ser)
 gnomAD v4
17g.6425543G>CCA397394317AIPL1c.1072C>G (p.Pro358Ala)
c.883C>G (p.Pro295Ala)
c.*944C>G (n.*944C>G)
c.1006C>G (p.Pro336Ala)
c.251+8376C>G
c.1036C>G (p.Pro346Ala)
c.*1043C>G (n.*1043C>G)
c.892C>G (p.Pro298Ala)
c.1000C>G (p.Pro334Ala)
c.*90C>G (n.*90C>G)
c.955C>G (p.Pro319Ala)
 gnomAD v4
17g.6425543G>TCA397394318AIPL1c.1072C>A (p.Pro358Thr)
c.883C>A (p.Pro295Thr)
c.*944C>A (n.*944C>A)
c.1006C>A (p.Pro336Thr)
c.251+8376C>A
c.1036C>A (p.Pro346Thr)
c.*1043C>A (n.*1043C>A)
c.892C>A (p.Pro298Thr)
c.1000C>A (p.Pro334Thr)
c.*90C>A (n.*90C>A)
c.955C>A (p.Pro319Thr)
 gnomAD v4
17g.6425544T>ACA497687328AIPL1c.1071A>T (p.Ala357=)
c.882A>T (p.Ala294=)
c.*943A>T (n.*943A>T)
c.1005A>T (p.Ala335=)
c.251+8375A>T
c.1035A>T (p.Ala345=)
c.*1042A>T (n.*1042A>T)
c.891A>T (p.Ala297=)
c.999A>T (p.Ala333=)
c.*89A>T (n.*89A>T)
c.954A>T (p.Ala318=)
17g.6425544T>CCA497687329AIPL1c.1071A>G (p.Ala357=)
c.882A>G (p.Ala294=)
c.*943A>G (n.*943A>G)
c.1005A>G (p.Ala335=)
c.251+8375A>G
c.1035A>G (p.Ala345=)
c.*1042A>G (n.*1042A>G)
c.891A>G (p.Ala297=)
c.999A>G (p.Ala333=)
c.*89A>G (n.*89A>G)
c.954A>G (p.Ala318=)
17g.6425544T>GCA497687330AIPL1c.1071A>C (p.Ala357=)
c.882A>C (p.Ala294=)
c.*943A>C (n.*943A>C)
c.1005A>C (p.Ala335=)
c.251+8375A>C
c.1035A>C (p.Ala345=)
c.*1042A>C (n.*1042A>C)
c.891A>C (p.Ala297=)
c.999A>C (p.Ala333=)
c.*89A>C (n.*89A>C)
c.954A>C (p.Ala318=)
17g.6425545G>ACA397394319AIPL1c.1070C>T (p.Ala357Val)
c.881C>T (p.Ala294Val)
c.*942C>T (n.*942C>T)
c.1004C>T (p.Ala335Val)
c.251+8374C>T
c.1034C>T (p.Ala345Val)
c.*1041C>T (n.*1041C>T)
c.890C>T (p.Ala297Val)
c.998C>T (p.Ala333Val)
c.*88C>T (n.*88C>T)
c.953C>T (p.Ala318Val)
 gnomAD v4
17g.6425545G>CCA397394320AIPL1c.1070C>G (p.Ala357Gly)
c.881C>G (p.Ala294Gly)
c.*942C>G (n.*942C>G)
c.1004C>G (p.Ala335Gly)
c.251+8374C>G
c.1034C>G (p.Ala345Gly)
c.*1041C>G (n.*1041C>G)
c.890C>G (p.Ala297Gly)
c.998C>G (p.Ala333Gly)
c.*88C>G (n.*88C>G)
c.953C>G (p.Ala318Gly)
17g.6425545G=CA2245346651AIPL1c.1070C= (p.Ala357=)
c.881C= (p.Ala294=)
c.*942C= (n.*942C=)
c.1004C= (p.Ala335=)
c.251+8374C=
c.1034C= (p.Ala345=)
c.*1041C= (n.*1041C=)
c.890C= (p.Ala297=)
c.998C= (p.Ala333=)
c.*88C= (n.*88C=)
c.953C= (p.Ala318=)
17g.6425545G>TCA397394321AIPL1c.1070C>A (p.Ala357Glu)
c.881C>A (p.Ala294Glu)
c.*942C>A (n.*942C>A)
c.1004C>A (p.Ala335Glu)
c.251+8374C>A
c.1034C>A (p.Ala345Glu)
c.*1041C>A (n.*1041C>A)
c.890C>A (p.Ala297Glu)
c.998C>A (p.Ala333Glu)
c.*88C>A (n.*88C>A)
c.953C>A (p.Ala318Glu)
17g.6425546C>ACA397394322AIPL1c.1069G>T (p.Ala357Ser)
c.880G>T (p.Ala294Ser)
c.*941G>T (n.*941G>T)
c.1003G>T (p.Ala335Ser)
c.251+8373G>T
c.1033G>T (p.Ala345Ser)
c.*1040G>T (n.*1040G>T)
c.889G>T (p.Ala297Ser)
c.997G>T (p.Ala333Ser)
c.*87G>T (n.*87G>T)
c.952G>T (p.Ala318Ser)
17g.6425546C=CA2245346656AIPL1c.1069G= (p.Ala357=)
c.880G= (p.Ala294=)
c.*941G= (n.*941G=)
c.1003G= (p.Ala335=)
c.251+8373G=
c.1033G= (p.Ala345=)
c.*1040G= (n.*1040G=)
c.889G= (p.Ala297=)
c.997G= (p.Ala333=)
c.*87G= (n.*87G=)
c.952G= (p.Ala318=)
17g.6425546C>GCA397394323AIPL1c.1069G>C (p.Ala357Pro)
c.880G>C (p.Ala294Pro)
c.*941G>C (n.*941G>C)
c.1003G>C (p.Ala335Pro)
c.251+8373G>C
c.1033G>C (p.Ala345Pro)
c.*1040G>C (n.*1040G>C)
c.889G>C (p.Ala297Pro)
c.997G>C (p.Ala333Pro)
c.*87G>C (n.*87G>C)
c.952G>C (p.Ala318Pro)
17g.6425546C>TCA8328318AIPL1c.1069G>A (p.Ala357Thr)
c.880G>A (p.Ala294Thr)
c.*941G>A (n.*941G>A)
c.1003G>A (p.Ala335Thr)
c.251+8373G>A
c.1033G>A (p.Ala345Thr)
c.*1040G>A (n.*1040G>A)
c.889G>A (p.Ala297Thr)
c.997G>A (p.Ala333Thr)
c.*87G>A (n.*87G>A)
c.952G>A (p.Ala318Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425549_6425560dupCA8328317AIPL1c.1058_1069dup (p.Thr356_Ala357insGluProProThr)
c.869_880dup (p.Thr293_Ala294insGluProProThr)
c.*930_*941dup (n.*930_*941dup)
c.992_1003dup (p.Thr334_Ala335insGluProProThr)
c.251+8362_251+8373dup
c.1022_1033dup (p.Thr344_Ala345insGluProProThr)
c.*1029_*1040dup (n.*1029_*1040dup)
c.878_889dup (p.Thr296_Ala297insGluProProThr)
c.986_997dup (p.Thr332_Ala333insGluProProThr)
c.*76_*87dup (n.*76_*87dup)
c.941_952dup (p.Thr317_Ala318insGluProProThr)
 dbSNP ExAC gnomAD v2
17g.6425547T>ACA497687331AIPL1c.1068A>T (p.Thr356=)
c.879A>T (p.Thr293=)
c.*940A>T (n.*940A>T)
c.1002A>T (p.Thr334=)
c.251+8372A>T
c.1032A>T (p.Thr344=)
c.*1039A>T (n.*1039A>T)
c.888A>T (p.Thr296=)
c.996A>T (p.Thr332=)
c.*86A>T (n.*86A>T)
c.951A>T (p.Thr317=)
17g.6425547T>CCA497687332AIPL1c.1068A>G (p.Thr356=)
c.879A>G (p.Thr293=)
c.*940A>G (n.*940A>G)
c.1002A>G (p.Thr334=)
c.251+8372A>G
c.1032A>G (p.Thr344=)
c.*1039A>G (n.*1039A>G)
c.888A>G (p.Thr296=)
c.996A>G (p.Thr332=)
c.*86A>G (n.*86A>G)
c.951A>G (p.Thr317=)
17g.6425547T>GCA497687333AIPL1c.1068A>C (p.Thr356=)
c.879A>C (p.Thr293=)
c.*940A>C (n.*940A>C)
c.1002A>C (p.Thr334=)
c.251+8372A>C
c.1032A>C (p.Thr344=)
c.*1039A>C (n.*1039A>C)
c.888A>C (p.Thr296=)
c.996A>C (p.Thr332=)
c.*86A>C (n.*86A>C)
c.951A>C (p.Thr317=)
17g.6425548G>ACA397394326AIPL1c.1067C>T (p.Thr356Ile)
c.878C>T (p.Thr293Ile)
c.*939C>T (n.*939C>T)
c.1001C>T (p.Thr334Ile)
c.251+8371C>T
c.1031C>T (p.Thr344Ile)
c.*1038C>T (n.*1038C>T)
c.887C>T (p.Thr296Ile)
c.995C>T (p.Thr332Ile)
c.*85C>T (n.*85C>T)
c.950C>T (p.Thr317Ile)
 COSMIC
17g.6425548G>CCA397394324AIPL1c.1067C>G (p.Thr356Arg)
c.878C>G (p.Thr293Arg)
c.*939C>G (n.*939C>G)
c.1001C>G (p.Thr334Arg)
c.251+8371C>G
c.1031C>G (p.Thr344Arg)
c.*1038C>G (n.*1038C>G)
c.887C>G (p.Thr296Arg)
c.995C>G (p.Thr332Arg)
c.*85C>G (n.*85C>G)
c.950C>G (p.Thr317Arg)
 gnomAD v4
17g.6425548G>TCA397394325AIPL1c.1067C>A (p.Thr356Lys)
c.878C>A (p.Thr293Lys)
c.*939C>A (n.*939C>A)
c.1001C>A (p.Thr334Lys)
c.251+8371C>A
c.1031C>A (p.Thr344Lys)
c.*1038C>A (n.*1038C>A)
c.887C>A (p.Thr296Lys)
c.995C>A (p.Thr332Lys)
c.*85C>A (n.*85C>A)
c.950C>A (p.Thr317Lys)
17g.6425549T>ACA397394327AIPL1c.1066A>T (p.Thr356Ser)
c.877A>T (p.Thr293Ser)
c.*938A>T (n.*938A>T)
c.1000A>T (p.Thr334Ser)
c.251+8370A>T
c.1030A>T (p.Thr344Ser)
c.*1037A>T (n.*1037A>T)
c.886A>T (p.Thr296Ser)
c.994A>T (p.Thr332Ser)
c.*84A>T (n.*84A>T)
c.949A>T (p.Thr317Ser)
17g.6425549T>CCA397394328AIPL1c.1066A>G (p.Thr356Ala)
c.877A>G (p.Thr293Ala)
c.*938A>G (n.*938A>G)
c.1000A>G (p.Thr334Ala)
c.251+8370A>G
c.1030A>G (p.Thr344Ala)
c.*1037A>G (n.*1037A>G)
c.886A>G (p.Thr296Ala)
c.994A>G (p.Thr332Ala)
c.*84A>G (n.*84A>G)
c.949A>G (p.Thr317Ala)
 gnomAD v4
17g.6425549T>GCA397394329AIPL1c.1066A>C (p.Thr356Pro)
c.877A>C (p.Thr293Pro)
c.*938A>C (n.*938A>C)
c.1000A>C (p.Thr334Pro)
c.251+8370A>C
c.1030A>C (p.Thr344Pro)
c.*1037A>C (n.*1037A>C)
c.886A>C (p.Thr296Pro)
c.994A>C (p.Thr332Pro)
c.*84A>C (n.*84A>C)
c.949A>C (p.Thr317Pro)
17g.6425549T=CA2245346662AIPL1c.1066A= (p.Thr356=)
c.877A= (p.Thr293=)
c.*938A= (n.*938A=)
c.1000A= (p.Thr334=)
c.251+8370A=
c.1030A= (p.Thr344=)
c.*1037A= (n.*1037A=)
c.886A= (p.Thr296=)
c.994A= (p.Thr332=)
c.*84A= (n.*84A=)
c.949A= (p.Thr317=)
17g.6425550G>ACA497687334AIPL1c.1065C>T (p.Pro355=)
c.876C>T (p.Pro292=)
c.*937C>T (n.*937C>T)
c.999C>T (p.Pro333=)
c.251+8369C>T
c.1029C>T (p.Pro343=)
c.*1036C>T (n.*1036C>T)
c.885C>T (p.Pro295=)
c.993C>T (p.Pro331=)
c.*83C>T (n.*83C>T)
c.948C>T (p.Pro316=)
17g.6425550G>CCA497687335AIPL1c.1065C>G (p.Pro355=)
c.876C>G (p.Pro292=)
c.*937C>G (n.*937C>G)
c.999C>G (p.Pro333=)
c.251+8369C>G
c.1029C>G (p.Pro343=)
c.*1036C>G (n.*1036C>G)
c.885C>G (p.Pro295=)
c.993C>G (p.Pro331=)
c.*83C>G (n.*83C>G)
c.948C>G (p.Pro316=)
17g.6425550G>TCA497687336AIPL1c.1065C>A (p.Pro355=)
c.876C>A (p.Pro292=)
c.*937C>A (n.*937C>A)
c.999C>A (p.Pro333=)
c.251+8369C>A
c.1029C>A (p.Pro343=)
c.*1036C>A (n.*1036C>A)
c.885C>A (p.Pro295=)
c.993C>A (p.Pro331=)
c.*83C>A (n.*83C>A)
c.948C>A (p.Pro316=)
 gnomAD v4
17g.6425550_6425561dupCA8328319AIPL1c.1054_1065dup (p.Pro355_Thr356insAlaGluProPro)
c.865_876dup (p.Pro292_Thr293insAlaGluProPro)
c.*926_*937dup (n.*926_*937dup)
c.988_999dup (p.Pro333_Thr334insAlaGluProPro)
c.251+8358_251+8369dup
c.1018_1029dup (p.Pro343_Thr344insAlaGluProPro)
c.*1025_*1036dup (n.*1025_*1036dup)
c.874_885dup (p.Pro295_Thr296insAlaGluProPro)
c.982_993dup (p.Pro331_Thr332insAlaGluProPro)
c.*72_*83dup (n.*72_*83dup)
c.937_948dup (p.Pro316_Thr317insAlaGluProPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425550_6425562delinsGGGTGGCTCTGCACA2245346671AIPL1c.1053_1065delinsTGCAGAGCCACCC (p.Pro351=)
c.864_876delinsTGCAGAGCCACCC (p.Pro288=)
c.*925_*937delinsTGCAGAGCCACCC (n.*925_*937delinsTGCAGAGCCACCC)
c.987_999delinsTGCAGAGCCACCC (p.Pro329=)
c.251+8357_251+8369delinsTGCAGAGCCACCC
c.1017_1029delinsTGCAGAGCCACCC (p.Pro339=)
c.*1024_*1036delinsTGCAGAGCCACCC (n.*1024_*1036delinsTGCAGAGCCACCC)
c.873_885delinsTGCAGAGCCACCC (p.Pro291=)
c.981_993delinsTGCAGAGCCACCC (p.Pro327=)
c.*71_*83delinsTGCAGAGCCACCC (n.*71_*83delinsTGCAGAGCCACCC)
c.936_948delinsTGCAGAGCCACCC (p.Pro312=)
17g.6425551G>ACA397394330AIPL1c.1064C>T (p.Pro355Leu)
c.875C>T (p.Pro292Leu)
c.*936C>T (n.*936C>T)
c.998C>T (p.Pro333Leu)
c.251+8368C>T
c.1028C>T (p.Pro343Leu)
c.*1035C>T (n.*1035C>T)
c.884C>T (p.Pro295Leu)
c.992C>T (p.Pro331Leu)
c.*82C>T (n.*82C>T)
c.947C>T (p.Pro316Leu)
 gnomAD v4
17g.6425551G>CCA397394331AIPL1c.1064C>G (p.Pro355Arg)
c.875C>G (p.Pro292Arg)
c.*936C>G (n.*936C>G)
c.998C>G (p.Pro333Arg)
c.251+8368C>G
c.1028C>G (p.Pro343Arg)
c.*1035C>G (n.*1035C>G)
c.884C>G (p.Pro295Arg)
c.992C>G (p.Pro331Arg)
c.*82C>G (n.*82C>G)
c.947C>G (p.Pro316Arg)
17g.6425551G>TCA397394332AIPL1c.1064C>A (p.Pro355His)
c.875C>A (p.Pro292His)
c.*936C>A (n.*936C>A)
c.998C>A (p.Pro333His)
c.251+8368C>A
c.1028C>A (p.Pro343His)
c.*1035C>A (n.*1035C>A)
c.884C>A (p.Pro295His)
c.992C>A (p.Pro331His)
c.*82C>A (n.*82C>A)
c.947C>A (p.Pro316His)
17g.6425561_6425572delCA117602AIPL1c.1053_1064del (p.Ala352_Pro355del)
c.864_875del (p.Ala289_Pro292del)
c.*925_*936del (n.*925_*936del)
c.987_998del (p.Ala330_Pro333del)
c.251+8357_251+8368del
c.1017_1028del (p.Ala340_Pro343del)
c.*1024_*1035del (n.*1024_*1035del)
c.873_884del (p.Ala292_Pro295del)
c.981_992del (p.Ala328_Pro331del)
c.*71_*82del (n.*71_*82del)
c.936_947del (p.Ala313_Pro316del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425552G>ACA397394335AIPL1c.1063C>T (p.Pro355Ser)
c.874C>T (p.Pro292Ser)
c.*935C>T (n.*935C>T)
c.997C>T (p.Pro333Ser)
c.251+8367C>T
c.1027C>T (p.Pro343Ser)
c.*1034C>T (n.*1034C>T)
c.883C>T (p.Pro295Ser)
c.991C>T (p.Pro331Ser)
c.*81C>T (n.*81C>T)
c.946C>T (p.Pro316Ser)
17g.6425552G>CCA397394334AIPL1c.1063C>G (p.Pro355Ala)
c.874C>G (p.Pro292Ala)
c.*935C>G (n.*935C>G)
c.997C>G (p.Pro333Ala)
c.251+8367C>G
c.1027C>G (p.Pro343Ala)
c.*1034C>G (n.*1034C>G)
c.883C>G (p.Pro295Ala)
c.991C>G (p.Pro331Ala)
c.*81C>G (n.*81C>G)
c.946C>G (p.Pro316Ala)
17g.6425552G>TCA397394333AIPL1c.1063C>A (p.Pro355Thr)
c.874C>A (p.Pro292Thr)
c.*935C>A (n.*935C>A)
c.997C>A (p.Pro333Thr)
c.251+8367C>A
c.1027C>A (p.Pro343Thr)
c.*1034C>A (n.*1034C>A)
c.883C>A (p.Pro295Thr)
c.991C>A (p.Pro331Thr)
c.*81C>A (n.*81C>A)
c.946C>A (p.Pro316Thr)
17g.6425553T>ACA497687337AIPL1c.1062A>T (p.Pro354=)
c.873A>T (p.Pro291=)
c.*934A>T (n.*934A>T)
c.996A>T (p.Pro332=)
c.251+8366A>T
c.1026A>T (p.Pro342=)
c.*1033A>T (n.*1033A>T)
c.882A>T (p.Pro294=)
c.990A>T (p.Pro330=)
c.*80A>T (n.*80A>T)
c.945A>T (p.Pro315=)
17g.6425553T>CCA497687338AIPL1c.1062A>G (p.Pro354=)
c.873A>G (p.Pro291=)
c.*934A>G (n.*934A>G)
c.996A>G (p.Pro332=)
c.251+8366A>G
c.1026A>G (p.Pro342=)
c.*1033A>G (n.*1033A>G)
c.882A>G (p.Pro294=)
c.990A>G (p.Pro330=)
c.*80A>G (n.*80A>G)
c.945A>G (p.Pro315=)
17g.6425553T>GCA497687339AIPL1c.1062A>C (p.Pro354=)
c.873A>C (p.Pro291=)
c.*934A>C (n.*934A>C)
c.996A>C (p.Pro332=)
c.251+8366A>C
c.1026A>C (p.Pro342=)
c.*1033A>C (n.*1033A>C)
c.882A>C (p.Pro294=)
c.990A>C (p.Pro330=)
c.*80A>C (n.*80A>C)
c.945A>C (p.Pro315=)
17g.6425554G>ACA8328320AIPL1c.1061C>T (p.Pro354Leu)
c.872C>T (p.Pro291Leu)
c.*933C>T (n.*933C>T)
c.995C>T (p.Pro332Leu)
c.251+8365C>T
c.1025C>T (p.Pro342Leu)
c.*1032C>T (n.*1032C>T)
c.881C>T (p.Pro294Leu)
c.989C>T (p.Pro330Leu)
c.*79C>T (n.*79C>T)
c.944C>T (p.Pro315Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425554G>CCA397394336AIPL1c.1061C>G (p.Pro354Arg)
c.872C>G (p.Pro291Arg)
c.*933C>G (n.*933C>G)
c.995C>G (p.Pro332Arg)
c.251+8365C>G
c.1025C>G (p.Pro342Arg)
c.*1032C>G (n.*1032C>G)
c.881C>G (p.Pro294Arg)
c.989C>G (p.Pro330Arg)
c.*79C>G (n.*79C>G)
c.944C>G (p.Pro315Arg)
17g.6425554G=CA2245346679AIPL1c.1061C= (p.Pro354=)
c.872C= (p.Pro291=)
c.*933C= (n.*933C=)
c.995C= (p.Pro332=)
c.251+8365C=
c.1025C= (p.Pro342=)
c.*1032C= (n.*1032C=)
c.881C= (p.Pro294=)
c.989C= (p.Pro330=)
c.*79C= (n.*79C=)
c.944C= (p.Pro315=)
17g.6425554G>TCA397394337AIPL1c.1061C>A (p.Pro354Gln)
c.872C>A (p.Pro291Gln)
c.*933C>A (n.*933C>A)
c.995C>A (p.Pro332Gln)
c.251+8365C>A
c.1025C>A (p.Pro342Gln)
c.*1032C>A (n.*1032C>A)
c.881C>A (p.Pro294Gln)
c.989C>A (p.Pro330Gln)
c.*79C>A (n.*79C>A)
c.944C>A (p.Pro315Gln)
17g.6425555G>ACA397394338AIPL1c.1060C>T (p.Pro354Ser)
c.871C>T (p.Pro291Ser)
c.*932C>T (n.*932C>T)
c.994C>T (p.Pro332Ser)
c.251+8364C>T
c.1024C>T (p.Pro342Ser)
c.*1031C>T (n.*1031C>T)
c.880C>T (p.Pro294Ser)
c.988C>T (p.Pro330Ser)
c.*78C>T (n.*78C>T)
c.943C>T (p.Pro315Ser)
 gnomAD v4 COSMIC
17g.6425555G>CCA397394339AIPL1c.1060C>G (p.Pro354Ala)
c.871C>G (p.Pro291Ala)
c.*932C>G (n.*932C>G)
c.994C>G (p.Pro332Ala)
c.251+8364C>G
c.1024C>G (p.Pro342Ala)
c.*1031C>G (n.*1031C>G)
c.880C>G (p.Pro294Ala)
c.988C>G (p.Pro330Ala)
c.*78C>G (n.*78C>G)
c.943C>G (p.Pro315Ala)
17g.6425555G>TCA397394340AIPL1c.1060C>A (p.Pro354Thr)
c.871C>A (p.Pro291Thr)
c.*932C>A (n.*932C>A)
c.994C>A (p.Pro332Thr)
c.251+8364C>A
c.1024C>A (p.Pro342Thr)
c.*1031C>A (n.*1031C>A)
c.880C>A (p.Pro294Thr)
c.988C>A (p.Pro330Thr)
c.*78C>A (n.*78C>A)
c.943C>A (p.Pro315Thr)
 gnomAD v4
17g.6425556C>ACA397394341AIPL1c.1059G>T (p.Glu353Asp)
c.870G>T (p.Glu290Asp)
c.*931G>T (n.*931G>T)
c.993G>T (p.Glu331Asp)
c.251+8363G>T
c.1023G>T (p.Glu341Asp)
c.*1030G>T (n.*1030G>T)
c.879G>T (p.Glu293Asp)
c.987G>T (p.Glu329Asp)
c.*77G>T (n.*77G>T)
c.942G>T (p.Glu314Asp)
17g.6425556C>GCA397394342AIPL1c.1059G>C (p.Glu353Asp)
c.870G>C (p.Glu290Asp)
c.*931G>C (n.*931G>C)
c.993G>C (p.Glu331Asp)
c.251+8363G>C
c.1023G>C (p.Glu341Asp)
c.*1030G>C (n.*1030G>C)
c.879G>C (p.Glu293Asp)
c.987G>C (p.Glu329Asp)
c.*77G>C (n.*77G>C)
c.942G>C (p.Glu314Asp)
17g.6425556C>TCA497687340AIPL1c.1059G>A (p.Glu353=)
c.870G>A (p.Glu290=)
c.*931G>A (n.*931G>A)
c.993G>A (p.Glu331=)
c.251+8363G>A
c.1023G>A (p.Glu341=)
c.*1030G>A (n.*1030G>A)
c.879G>A (p.Glu293=)
c.987G>A (p.Glu329=)
c.*77G>A (n.*77G>A)
c.942G>A (p.Glu314=)
17g.6425557T>ACA397394343AIPL1c.1058A>T (p.Glu353Val)
c.869A>T (p.Glu290Val)
c.*930A>T (n.*930A>T)
c.992A>T (p.Glu331Val)
c.251+8362A>T
c.1022A>T (p.Glu341Val)
c.*1029A>T (n.*1029A>T)
c.878A>T (p.Glu293Val)
c.986A>T (p.Glu329Val)
c.*76A>T (n.*76A>T)
c.941A>T (p.Glu314Val)
17g.6425557T>CCA397394344AIPL1c.1058A>G (p.Glu353Gly)
c.869A>G (p.Glu290Gly)
c.*930A>G (n.*930A>G)
c.992A>G (p.Glu331Gly)
c.251+8362A>G
c.1022A>G (p.Glu341Gly)
c.*1029A>G (n.*1029A>G)
c.878A>G (p.Glu293Gly)
c.986A>G (p.Glu329Gly)
c.*76A>G (n.*76A>G)
c.941A>G (p.Glu314Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.6425557T>GCA397394345AIPL1c.1058A>C (p.Glu353Ala)
c.869A>C (p.Glu290Ala)
c.*930A>C (n.*930A>C)
c.992A>C (p.Glu331Ala)
c.251+8362A>C
c.1022A>C (p.Glu341Ala)
c.*1029A>C (n.*1029A>C)
c.878A>C (p.Glu293Ala)
c.986A>C (p.Glu329Ala)
c.*76A>C (n.*76A>C)
c.941A>C (p.Glu314Ala)
17g.6425557T=CA2245346684AIPL1c.1058A= (p.Glu353=)
c.869A= (p.Glu290=)
c.*930A= (n.*930A=)
c.992A= (p.Glu331=)
c.251+8362A=
c.1022A= (p.Glu341=)
c.*1029A= (n.*1029A=)
c.878A= (p.Glu293=)
c.986A= (p.Glu329=)
c.*76A= (n.*76A=)
c.941A= (p.Glu314=)
17g.6425558C>ACA397394347AIPL1c.1057G>T (p.Glu353Ter)
c.868G>T (p.Glu290Ter)
c.*929G>T (n.*929G>T)
c.991G>T (p.Glu331Ter)
c.251+8361G>T
c.1021G>T (p.Glu341Ter)
c.*1028G>T (n.*1028G>T)
c.877G>T (p.Glu293Ter)
c.985G>T (p.Glu329Ter)
c.*75G>T (n.*75G>T)
c.940G>T (p.Glu314Ter)
17g.6425558C>GCA397394348AIPL1c.1057G>C (p.Glu353Gln)
c.868G>C (p.Glu290Gln)
c.*929G>C (n.*929G>C)
c.991G>C (p.Glu331Gln)
c.251+8361G>C
c.1021G>C (p.Glu341Gln)
c.*1028G>C (n.*1028G>C)
c.877G>C (p.Glu293Gln)
c.985G>C (p.Glu329Gln)
c.*75G>C (n.*75G>C)
c.940G>C (p.Glu314Gln)
17g.6425558C>TCA397394346AIPL1c.1057G>A (p.Glu353Lys)
c.868G>A (p.Glu290Lys)
c.*929G>A (n.*929G>A)
c.991G>A (p.Glu331Lys)
c.251+8361G>A
c.1021G>A (p.Glu341Lys)
c.*1028G>A (n.*1028G>A)
c.877G>A (p.Glu293Lys)
c.985G>A (p.Glu329Lys)
c.*75G>A (n.*75G>A)
c.940G>A (p.Glu314Lys)
17g.6425559T>ACA497687341AIPL1c.1056A>T (p.Ala352=)
c.867A>T (p.Ala289=)
c.*928A>T (n.*928A>T)
c.990A>T (p.Ala330=)
c.251+8360A>T
c.1020A>T (p.Ala340=)
c.*1027A>T (n.*1027A>T)
c.876A>T (p.Ala292=)
c.984A>T (p.Ala328=)
c.*74A>T (n.*74A>T)
c.939A>T (p.Ala313=)
17g.6425559T>CCA497687342AIPL1c.1056A>G (p.Ala352=)
c.867A>G (p.Ala289=)
c.*928A>G (n.*928A>G)
c.990A>G (p.Ala330=)
c.251+8360A>G
c.1020A>G (p.Ala340=)
c.*1027A>G (n.*1027A>G)
c.876A>G (p.Ala292=)
c.984A>G (p.Ala328=)
c.*74A>G (n.*74A>G)
c.939A>G (p.Ala313=)
17g.6425559T>GCA497687343AIPL1c.1056A>C (p.Ala352=)
c.867A>C (p.Ala289=)
c.*928A>C (n.*928A>C)
c.990A>C (p.Ala330=)
c.251+8360A>C
c.1020A>C (p.Ala340=)
c.*1027A>C (n.*1027A>C)
c.876A>C (p.Ala292=)
c.984A>C (p.Ala328=)
c.*74A>C (n.*74A>C)
c.939A>C (p.Ala313=)
17g.6425560G>ACA397394349AIPL1c.1055C>T (p.Ala352Val)
c.866C>T (p.Ala289Val)
c.*927C>T (n.*927C>T)
c.989C>T (p.Ala330Val)
c.251+8359C>T
c.1019C>T (p.Ala340Val)
c.*1026C>T (n.*1026C>T)
c.875C>T (p.Ala292Val)
c.983C>T (p.Ala328Val)
c.*73C>T (n.*73C>T)
c.938C>T (p.Ala313Val)
17g.6425560G>CCA397394350AIPL1c.1055C>G (p.Ala352Gly)
c.866C>G (p.Ala289Gly)
c.*927C>G (n.*927C>G)
c.989C>G (p.Ala330Gly)
c.251+8359C>G
c.1019C>G (p.Ala340Gly)
c.*1026C>G (n.*1026C>G)
c.875C>G (p.Ala292Gly)
c.983C>G (p.Ala328Gly)
c.*73C>G (n.*73C>G)
c.938C>G (p.Ala313Gly)
17g.6425560G>TCA397394351AIPL1c.1055C>A (p.Ala352Glu)
c.866C>A (p.Ala289Glu)
c.*927C>A (n.*927C>A)
c.989C>A (p.Ala330Glu)
c.251+8359C>A
c.1019C>A (p.Ala340Glu)
c.*1026C>A (n.*1026C>A)
c.875C>A (p.Ala292Glu)
c.983C>A (p.Ala328Glu)
c.*73C>A (n.*73C>A)
c.938C>A (p.Ala313Glu)
 gnomAD v4
17g.6425561C>ACA397394352AIPL1c.1054G>T (p.Ala352Ser)
c.865G>T (p.Ala289Ser)
c.*926G>T (n.*926G>T)
c.988G>T (p.Ala330Ser)
c.251+8358G>T
c.1018G>T (p.Ala340Ser)
c.*1025G>T (n.*1025G>T)
c.874G>T (p.Ala292Ser)
c.982G>T (p.Ala328Ser)
c.*72G>T (n.*72G>T)
c.937G>T (p.Ala313Ser)
17g.6425561C=CA2245346689AIPL1c.1054G= (p.Ala352=)
c.865G= (p.Ala289=)
c.*926G= (n.*926G=)
c.988G= (p.Ala330=)
c.251+8358G=
c.1018G= (p.Ala340=)
c.*1025G= (n.*1025G=)
c.874G= (p.Ala292=)
c.982G= (p.Ala328=)
c.*72G= (n.*72G=)
c.937G= (p.Ala313=)
17g.6425561C>GCA397394353AIPL1c.1054G>C (p.Ala352Pro)
c.865G>C (p.Ala289Pro)
c.*926G>C (n.*926G>C)
c.988G>C (p.Ala330Pro)
c.251+8358G>C
c.1018G>C (p.Ala340Pro)
c.*1025G>C (n.*1025G>C)
c.874G>C (p.Ala292Pro)
c.982G>C (p.Ala328Pro)
c.*72G>C (n.*72G>C)
c.937G>C (p.Ala313Pro)
17g.6425561C>TCA8328321AIPL1c.1054G>A (p.Ala352Thr)
c.865G>A (p.Ala289Thr)
c.*926G>A (n.*926G>A)
c.988G>A (p.Ala330Thr)
c.251+8358G>A
c.1018G>A (p.Ala340Thr)
c.*1025G>A (n.*1025G>A)
c.874G>A (p.Ala292Thr)
c.982G>A (p.Ala328Thr)
c.*72G>A (n.*72G>A)
c.937G>A (p.Ala313Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425562A=CA2245346693AIPL1c.1053T= (p.Pro351=)
c.864T= (p.Pro288=)
c.*925T= (n.*925T=)
c.987T= (p.Pro329=)
c.251+8357T=
c.1017T= (p.Pro339=)
c.*1024T= (n.*1024T=)
c.873T= (p.Pro291=)
c.981T= (p.Pro327=)
c.*71T= (n.*71T=)
c.936T= (p.Pro312=)
17g.6425562A>CCA497687344AIPL1c.1053T>G (p.Pro351=)
c.864T>G (p.Pro288=)
c.*925T>G (n.*925T>G)
c.987T>G (p.Pro329=)
c.251+8357T>G
c.1017T>G (p.Pro339=)
c.*1024T>G (n.*1024T>G)
c.873T>G (p.Pro291=)
c.981T>G (p.Pro327=)
c.*71T>G (n.*71T>G)
c.936T>G (p.Pro312=)
17g.6425562A>GCA497687346AIPL1c.1053T>C (p.Pro351=)
c.864T>C (p.Pro288=)
c.*925T>C (n.*925T>C)
c.987T>C (p.Pro329=)
c.251+8357T>C
c.1017T>C (p.Pro339=)
c.*1024T>C (n.*1024T>C)
c.873T>C (p.Pro291=)
c.981T>C (p.Pro327=)
c.*71T>C (n.*71T>C)
c.936T>C (p.Pro312=)
 dbSNP gnomAD v4
17g.6425562A>TCA497687345AIPL1c.1053T>A (p.Pro351=)
c.864T>A (p.Pro288=)
c.*925T>A (n.*925T>A)
c.987T>A (p.Pro329=)
c.251+8357T>A
c.1017T>A (p.Pro339=)
c.*1024T>A (n.*1024T>A)
c.873T>A (p.Pro291=)
c.981T>A (p.Pro327=)
c.*71T>A (n.*71T>A)
c.936T>A (p.Pro312=)
17g.6425562_6425586delinsAGGTGGCTCTGTGGATGACTGTGCGCA2245346692AIPL1c.1029_1053delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro343=)
c.840_864delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro280=)
c.*901_*925delinsCGCACAGTCATCCACAGAGCCACCT (n.*901_*925delinsCGCACAGTCATCCACAGAGCCACCT)
c.963_987delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro321=)
c.251+8333_251+8357delinsCGCACAGTCATCCACAGAGCCACCT
c.993_1017delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro331=)
c.*1000_*1024delinsCGCACAGTCATCCACAGAGCCACCT (n.*1000_*1024delinsCGCACAGTCATCCACAGAGCCACCT)
c.849_873delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro283=)
c.957_981delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro319=)
c.*47_*71delinsCGCACAGTCATCCACAGAGCCACCT (n.*47_*71delinsCGCACAGTCATCCACAGAGCCACCT)
c.912_936delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro304=)
17g.6425563G>ACA287323721AIPL1c.1052C>T (p.Pro351Leu)
c.863C>T (p.Pro288Leu)
c.*924C>T (n.*924C>T)
c.986C>T (p.Pro329Leu)
c.251+8356C>T
c.1016C>T (p.Pro339Leu)
c.*1023C>T (n.*1023C>T)
c.872C>T (p.Pro291Leu)
c.980C>T (p.Pro327Leu)
c.*70C>T (n.*70C>T)
c.935C>T (p.Pro312Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425563G>CCA397394354AIPL1c.1052C>G (p.Pro351Arg)
c.863C>G (p.Pro288Arg)
c.*924C>G (n.*924C>G)
c.986C>G (p.Pro329Arg)
c.251+8356C>G
c.1016C>G (p.Pro339Arg)
c.*1023C>G (n.*1023C>G)
c.872C>G (p.Pro291Arg)
c.980C>G (p.Pro327Arg)
c.*70C>G (n.*70C>G)
c.935C>G (p.Pro312Arg)
17g.6425563G=CA2245346701AIPL1c.1052C= (p.Pro351=)
c.863C= (p.Pro288=)
c.*924C= (n.*924C=)
c.986C= (p.Pro329=)
c.251+8356C=
c.1016C= (p.Pro339=)
c.*1023C= (n.*1023C=)
c.872C= (p.Pro291=)
c.980C= (p.Pro327=)
c.*70C= (n.*70C=)
c.935C= (p.Pro312=)
17g.6425563G>TCA397394355AIPL1c.1052C>A (p.Pro351His)
c.863C>A (p.Pro288His)
c.*924C>A (n.*924C>A)
c.986C>A (p.Pro329His)
c.251+8356C>A
c.1016C>A (p.Pro339His)
c.*1023C>A (n.*1023C>A)
c.872C>A (p.Pro291His)
c.980C>A (p.Pro327His)
c.*70C>A (n.*70C>A)
c.935C>A (p.Pro312His)
17g.6425576_6425599dupCA624859136AIPL1c.1029_1052dup (p.Pro351_Ala352insAlaGlnSerSerThrGluProPro)
c.840_863dup (p.Pro288_Ala289insAlaGlnSerSerThrGluProPro)
c.*901_*924dup (n.*901_*924dup)
c.963_986dup (p.Pro329_Ala330insAlaGlnSerSerThrGluProPro)
c.251+8333_251+8356dup
c.993_1016dup (p.Pro339_Ala340insAlaGlnSerSerThrGluProPro)
c.*1000_*1023dup (n.*1000_*1023dup)
c.849_872dup (p.Pro291_Ala292insAlaGlnSerSerThrGluProPro)
c.957_980dup (p.Pro327_Ala328insAlaGlnSerSerThrGluProPro)
c.*47_*70dup (n.*47_*70dup)
c.912_935dup (p.Pro312_Ala313insAlaGlnSerSerThrGluProPro)
 dbSNP gnomAD v2 gnomAD v4
17g.6425576_6425599delCA8328322AIPL1c.1029_1052del (p.Ala344_Pro351del)
c.840_863del (p.Ala281_Pro288del)
c.*901_*924del (n.*901_*924del)
c.963_986del (p.Ala322_Pro329del)
c.251+8333_251+8356del
c.993_1016del (p.Ala332_Pro339del)
c.*1000_*1023del (n.*1000_*1023del)
c.849_872del (p.Ala284_Pro291del)
c.957_980del (p.Ala320_Pro327del)
c.*47_*70del (n.*47_*70del)
c.912_935del (p.Ala305_Pro312del)
 dbSNP ExAC
17g.6425564G>ACA8328323AIPL1c.1051C>T (p.Pro351Ser)
c.862C>T (p.Pro288Ser)
c.*923C>T (n.*923C>T)
c.985C>T (p.Pro329Ser)
c.251+8355C>T
c.1015C>T (p.Pro339Ser)
c.*1022C>T (n.*1022C>T)
c.871C>T (p.Pro291Ser)
c.979C>T (p.Pro327Ser)
c.*69C>T (n.*69C>T)
c.934C>T (p.Pro312Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425564G>CCA397394356AIPL1c.1051C>G (p.Pro351Ala)
c.862C>G (p.Pro288Ala)
c.*923C>G (n.*923C>G)
c.985C>G (p.Pro329Ala)
c.251+8355C>G
c.1015C>G (p.Pro339Ala)
c.*1022C>G (n.*1022C>G)
c.871C>G (p.Pro291Ala)
c.979C>G (p.Pro327Ala)
c.*69C>G (n.*69C>G)
c.934C>G (p.Pro312Ala)
17g.6425564G=CA2245346706AIPL1c.1051C= (p.Pro351=)
c.862C= (p.Pro288=)
c.*923C= (n.*923C=)
c.985C= (p.Pro329=)
c.251+8355C=
c.1015C= (p.Pro339=)
c.*1022C= (n.*1022C=)
c.871C= (p.Pro291=)
c.979C= (p.Pro327=)
c.*69C= (n.*69C=)
c.934C= (p.Pro312=)
17g.6425564G>TCA397394357AIPL1c.1051C>A (p.Pro351Thr)
c.862C>A (p.Pro288Thr)
c.*923C>A (n.*923C>A)
c.985C>A (p.Pro329Thr)
c.251+8355C>A
c.1015C>A (p.Pro339Thr)
c.*1022C>A (n.*1022C>A)
c.871C>A (p.Pro291Thr)
c.979C>A (p.Pro327Thr)
c.*69C>A (n.*69C>A)
c.934C>A (p.Pro312Thr)
17g.6425565T>ACA497687347AIPL1c.1050A>T (p.Pro350=)
c.861A>T (p.Pro287=)
c.*922A>T (n.*922A>T)
c.984A>T (p.Pro328=)
c.251+8354A>T
c.1014A>T (p.Pro338=)
c.*1021A>T (n.*1021A>T)
c.870A>T (p.Pro290=)
c.978A>T (p.Pro326=)
c.*68A>T (n.*68A>T)
c.933A>T (p.Pro311=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425565T>CCA497687348AIPL1c.1050A>G (p.Pro350=)
c.861A>G (p.Pro287=)
c.*922A>G (n.*922A>G)
c.984A>G (p.Pro328=)
c.251+8354A>G
c.1014A>G (p.Pro338=)
c.*1021A>G (n.*1021A>G)
c.870A>G (p.Pro290=)
c.978A>G (p.Pro326=)
c.*68A>G (n.*68A>G)
c.933A>G (p.Pro311=)
17g.6425565T>GCA497687349AIPL1c.1050A>C (p.Pro350=)
c.861A>C (p.Pro287=)
c.*922A>C (n.*922A>C)
c.984A>C (p.Pro328=)
c.251+8354A>C
c.1014A>C (p.Pro338=)
c.*1021A>C (n.*1021A>C)
c.870A>C (p.Pro290=)
c.978A>C (p.Pro326=)
c.*68A>C (n.*68A>C)
c.933A>C (p.Pro311=)
17g.6425565T=CA2245346709AIPL1c.1050A= (p.Pro350=)
c.861A= (p.Pro287=)
c.*922A= (n.*922A=)
c.984A= (p.Pro328=)
c.251+8354A=
c.1014A= (p.Pro338=)
c.*1021A= (n.*1021A=)
c.870A= (p.Pro290=)
c.978A= (p.Pro326=)
c.*68A= (n.*68A=)
c.933A= (p.Pro311=)
17g.6425566G>ACA397394360AIPL1c.1049C>T (p.Pro350Leu)
c.860C>T (p.Pro287Leu)
c.*921C>T (n.*921C>T)
c.983C>T (p.Pro328Leu)
c.251+8353C>T
c.1013C>T (p.Pro338Leu)
c.*1020C>T (n.*1020C>T)
c.869C>T (p.Pro290Leu)
c.977C>T (p.Pro326Leu)
c.*67C>T (n.*67C>T)
c.932C>T (p.Pro311Leu)
17g.6425566G>CCA397394359AIPL1c.1049C>G (p.Pro350Arg)
c.860C>G (p.Pro287Arg)
c.*921C>G (n.*921C>G)
c.983C>G (p.Pro328Arg)
c.251+8353C>G
c.1013C>G (p.Pro338Arg)
c.*1020C>G (n.*1020C>G)
c.869C>G (p.Pro290Arg)
c.977C>G (p.Pro326Arg)
c.*67C>G (n.*67C>G)
c.932C>G (p.Pro311Arg)
17g.6425566G>TCA397394358AIPL1c.1049C>A (p.Pro350Gln)
c.860C>A (p.Pro287Gln)
c.*921C>A (n.*921C>A)
c.983C>A (p.Pro328Gln)
c.251+8353C>A
c.1013C>A (p.Pro338Gln)
c.*1020C>A (n.*1020C>A)
c.869C>A (p.Pro290Gln)
c.977C>A (p.Pro326Gln)
c.*67C>A (n.*67C>A)
c.932C>A (p.Pro311Gln)
 gnomAD v4
17g.6425567G>ACA397394361AIPL1c.1048C>T (p.Pro350Ser)
c.859C>T (p.Pro287Ser)
c.*920C>T (n.*920C>T)
c.982C>T (p.Pro328Ser)
c.251+8352C>T
c.1012C>T (p.Pro338Ser)
c.*1019C>T (n.*1019C>T)
c.868C>T (p.Pro290Ser)
c.976C>T (p.Pro326Ser)
c.*66C>T (n.*66C>T)
c.931C>T (p.Pro311Ser)
 gnomAD v4
17g.6425567G>CCA397394362AIPL1c.1048C>G (p.Pro350Ala)
c.859C>G (p.Pro287Ala)
c.*920C>G (n.*920C>G)
c.982C>G (p.Pro328Ala)
c.251+8352C>G
c.1012C>G (p.Pro338Ala)
c.*1019C>G (n.*1019C>G)
c.868C>G (p.Pro290Ala)
c.976C>G (p.Pro326Ala)
c.*66C>G (n.*66C>G)
c.931C>G (p.Pro311Ala)
 dbSNP
17g.6425567G=CA2245346711AIPL1c.1048C= (p.Pro350=)
c.859C= (p.Pro287=)
c.*920C= (n.*920C=)
c.982C= (p.Pro328=)
c.251+8352C=
c.1012C= (p.Pro338=)
c.*1019C= (n.*1019C=)
c.868C= (p.Pro290=)
c.976C= (p.Pro326=)
c.*66C= (n.*66C=)
c.931C= (p.Pro311=)
17g.6425567G>TCA397394363AIPL1c.1048C>A (p.Pro350Thr)
c.859C>A (p.Pro287Thr)
c.*920C>A (n.*920C>A)
c.982C>A (p.Pro328Thr)
c.251+8352C>A
c.1012C>A (p.Pro338Thr)
c.*1019C>A (n.*1019C>A)
c.868C>A (p.Pro290Thr)
c.976C>A (p.Pro326Thr)
c.*66C>A (n.*66C>A)
c.931C>A (p.Pro311Thr)
17g.6425568C>ACA397394364AIPL1c.1047G>T (p.Glu349Asp)
c.858G>T (p.Glu286Asp)
c.*919G>T (n.*919G>T)
c.981G>T (p.Glu327Asp)
c.251+8351G>T
c.1011G>T (p.Glu337Asp)
c.*1018G>T (n.*1018G>T)
c.867G>T (p.Glu289Asp)
c.975G>T (p.Glu325Asp)
c.*65G>T (n.*65G>T)
c.930G>T (p.Glu310Asp)
17g.6425568C=CA2245346717AIPL1c.1047G= (p.Glu349=)
c.858G= (p.Glu286=)
c.*919G= (n.*919G=)
c.981G= (p.Glu327=)
c.251+8351G=
c.1011G= (p.Glu337=)
c.*1018G= (n.*1018G=)
c.867G= (p.Glu289=)
c.975G= (p.Glu325=)
c.*65G= (n.*65G=)
c.930G= (p.Glu310=)
17g.6425568C>GCA397394365AIPL1c.1047G>C (p.Glu349Asp)
c.858G>C (p.Glu286Asp)
c.*919G>C (n.*919G>C)
c.981G>C (p.Glu327Asp)
c.251+8351G>C
c.1011G>C (p.Glu337Asp)
c.*1018G>C (n.*1018G>C)
c.867G>C (p.Glu289Asp)
c.975G>C (p.Glu325Asp)
c.*65G>C (n.*65G>C)
c.930G>C (p.Glu310Asp)
17g.6425568C>TCA8328324AIPL1c.1047G>A (p.Glu349=)
c.858G>A (p.Glu286=)
c.*919G>A (n.*919G>A)
c.981G>A (p.Glu327=)
c.251+8351G>A
c.1011G>A (p.Glu337=)
c.*1018G>A (n.*1018G>A)
c.867G>A (p.Glu289=)
c.975G>A (p.Glu325=)
c.*65G>A (n.*65G>A)
c.930G>A (p.Glu310=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425569T>ACA397394366AIPL1c.1046A>T (p.Glu349Val)
c.857A>T (p.Glu286Val)
c.*918A>T (n.*918A>T)
c.980A>T (p.Glu327Val)
c.251+8350A>T
c.1010A>T (p.Glu337Val)
c.*1017A>T (n.*1017A>T)
c.866A>T (p.Glu289Val)
c.974A>T (p.Glu325Val)
c.*64A>T (n.*64A>T)
c.929A>T (p.Glu310Val)
17g.6425569T>CCA397394367AIPL1c.1046A>G (p.Glu349Gly)
c.857A>G (p.Glu286Gly)
c.*918A>G (n.*918A>G)
c.980A>G (p.Glu327Gly)
c.251+8350A>G
c.1010A>G (p.Glu337Gly)
c.*1017A>G (n.*1017A>G)
c.866A>G (p.Glu289Gly)
c.974A>G (p.Glu325Gly)
c.*64A>G (n.*64A>G)
c.929A>G (p.Glu310Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.6425569T>GCA397394368AIPL1c.1046A>C (p.Glu349Ala)
c.857A>C (p.Glu286Ala)
c.*918A>C (n.*918A>C)
c.980A>C (p.Glu327Ala)
c.251+8350A>C
c.1010A>C (p.Glu337Ala)
c.*1017A>C (n.*1017A>C)
c.866A>C (p.Glu289Ala)
c.974A>C (p.Glu325Ala)
c.*64A>C (n.*64A>C)
c.929A>C (p.Glu310Ala)
17g.6425569T=CA2245346720AIPL1c.1046A= (p.Glu349=)
c.857A= (p.Glu286=)
c.*918A= (n.*918A=)
c.980A= (p.Glu327=)
c.251+8350A=
c.1010A= (p.Glu337=)
c.*1017A= (n.*1017A=)
c.866A= (p.Glu289=)
c.974A= (p.Glu325=)
c.*64A= (n.*64A=)
c.929A= (p.Glu310=)
17g.6425570C>ACA397394369AIPL1c.1045G>T (p.Glu349Ter)
c.856G>T (p.Glu286Ter)
c.*917G>T (n.*917G>T)
c.979G>T (p.Glu327Ter)
c.251+8349G>T
c.1009G>T (p.Glu337Ter)
c.*1016G>T (n.*1016G>T)
c.865G>T (p.Glu289Ter)
c.973G>T (p.Glu325Ter)
c.*63G>T (n.*63G>T)
c.928G>T (p.Glu310Ter)
17g.6425570C>GCA397394370AIPL1c.1045G>C (p.Glu349Gln)
c.856G>C (p.Glu286Gln)
c.*917G>C (n.*917G>C)
c.979G>C (p.Glu327Gln)
c.251+8349G>C
c.1009G>C (p.Glu337Gln)
c.*1016G>C (n.*1016G>C)
c.865G>C (p.Glu289Gln)
c.973G>C (p.Glu325Gln)
c.*63G>C (n.*63G>C)
c.928G>C (p.Glu310Gln)
17g.6425570C>TCA397394371AIPL1c.1045G>A (p.Glu349Lys)
c.856G>A (p.Glu286Lys)
c.*917G>A (n.*917G>A)
c.979G>A (p.Glu327Lys)
c.251+8349G>A
c.1009G>A (p.Glu337Lys)
c.*1016G>A (n.*1016G>A)
c.865G>A (p.Glu289Lys)
c.973G>A (p.Glu325Lys)
c.*63G>A (n.*63G>A)
c.928G>A (p.Glu310Lys)
17g.6425571T>ACA497687350AIPL1c.1044A>T (p.Thr348=)
c.855A>T (p.Thr285=)
c.*916A>T (n.*916A>T)
c.978A>T (p.Thr326=)
c.251+8348A>T
c.1008A>T (p.Thr336=)
c.*1015A>T (n.*1015A>T)
c.864A>T (p.Thr288=)
c.972A>T (p.Thr324=)
c.*62A>T (n.*62A>T)
c.927A>T (p.Thr309=)
17g.6425571T>CCA497687351AIPL1c.1044A>G (p.Thr348=)
c.855A>G (p.Thr285=)
c.*916A>G (n.*916A>G)
c.978A>G (p.Thr326=)
c.251+8348A>G
c.1008A>G (p.Thr336=)
c.*1015A>G (n.*1015A>G)
c.864A>G (p.Thr288=)
c.972A>G (p.Thr324=)
c.*62A>G (n.*62A>G)
c.927A>G (p.Thr309=)
17g.6425571T>GCA497687352AIPL1c.1044A>C (p.Thr348=)
c.855A>C (p.Thr285=)
c.*916A>C (n.*916A>C)
c.978A>C (p.Thr326=)
c.251+8348A>C
c.1008A>C (p.Thr336=)
c.*1015A>C (n.*1015A>C)
c.864A>C (p.Thr288=)
c.972A>C (p.Thr324=)
c.*62A>C (n.*62A>C)
c.927A>C (p.Thr309=)
 ClinVar gnomAD v4
17g.6425572G>ACA397394374AIPL1c.1043C>T (p.Thr348Ile)
c.854C>T (p.Thr285Ile)
c.*915C>T (n.*915C>T)
c.977C>T (p.Thr326Ile)
c.251+8347C>T
c.1007C>T (p.Thr336Ile)
c.*1014C>T (n.*1014C>T)
c.863C>T (p.Thr288Ile)
c.971C>T (p.Thr324Ile)
c.*61C>T (n.*61C>T)
c.926C>T (p.Thr309Ile)
17g.6425572G>CCA397394373AIPL1c.1043C>G (p.Thr348Arg)
c.854C>G (p.Thr285Arg)
c.*915C>G (n.*915C>G)
c.977C>G (p.Thr326Arg)
c.251+8347C>G
c.1007C>G (p.Thr336Arg)
c.*1014C>G (n.*1014C>G)
c.863C>G (p.Thr288Arg)
c.971C>G (p.Thr324Arg)
c.*61C>G (n.*61C>G)
c.926C>G (p.Thr309Arg)
17g.6425572G>TCA397394372AIPL1c.1043C>A (p.Thr348Lys)
c.854C>A (p.Thr285Lys)
c.*915C>A (n.*915C>A)
c.977C>A (p.Thr326Lys)
c.251+8347C>A
c.1007C>A (p.Thr336Lys)
c.*1014C>A (n.*1014C>A)
c.863C>A (p.Thr288Lys)
c.971C>A (p.Thr324Lys)
c.*61C>A (n.*61C>A)
c.926C>A (p.Thr309Lys)
 gnomAD v4
17g.6425573T>ACA397394375AIPL1c.1042A>T (p.Thr348Ser)
c.853A>T (p.Thr285Ser)
c.*914A>T (n.*914A>T)
c.976A>T (p.Thr326Ser)
c.251+8346A>T
c.1006A>T (p.Thr336Ser)
c.*1013A>T (n.*1013A>T)
c.862A>T (p.Thr288Ser)
c.970A>T (p.Thr324Ser)
c.*60A>T (n.*60A>T)
c.925A>T (p.Thr309Ser)
17g.6425573T>CCA397394377AIPL1c.1042A>G (p.Thr348Ala)
c.853A>G (p.Thr285Ala)
c.*914A>G (n.*914A>G)
c.976A>G (p.Thr326Ala)
c.251+8346A>G
c.1006A>G (p.Thr336Ala)
c.*1013A>G (n.*1013A>G)
c.862A>G (p.Thr288Ala)
c.970A>G (p.Thr324Ala)
c.*60A>G (n.*60A>G)
c.925A>G (p.Thr309Ala)
17g.6425573T>GCA397394376AIPL1c.1042A>C (p.Thr348Pro)
c.853A>C (p.Thr285Pro)
c.*914A>C (n.*914A>C)
c.976A>C (p.Thr326Pro)
c.251+8346A>C
c.1006A>C (p.Thr336Pro)
c.*1013A>C (n.*1013A>C)
c.862A>C (p.Thr288Pro)
c.970A>C (p.Thr324Pro)
c.*60A>C (n.*60A>C)
c.925A>C (p.Thr309Pro)
17g.6425573T=CA2245346723AIPL1c.1042A= (p.Thr348=)
c.853A= (p.Thr285=)
c.*914A= (n.*914A=)
c.976A= (p.Thr326=)
c.251+8346A=
c.1006A= (p.Thr336=)
c.*1013A= (n.*1013A=)
c.862A= (p.Thr288=)
c.970A= (p.Thr324=)
c.*60A= (n.*60A=)
c.925A= (p.Thr309=)
17g.6425574G>ACA497687353AIPL1c.1041C>T (p.Ser347=)
c.852C>T (p.Ser284=)
c.*913C>T (n.*913C>T)
c.975C>T (p.Ser325=)
c.251+8345C>T
c.1005C>T (p.Ser335=)
c.*1012C>T (n.*1012C>T)
c.861C>T (p.Ser287=)
c.969C>T (p.Ser323=)
c.*59C>T (n.*59C>T)
c.924C>T (p.Ser308=)
17g.6425574G>CCA497687355AIPL1c.1041C>G (p.Ser347=)
c.852C>G (p.Ser284=)
c.*913C>G (n.*913C>G)
c.975C>G (p.Ser325=)
c.251+8345C>G
c.1005C>G (p.Ser335=)
c.*1012C>G (n.*1012C>G)
c.861C>G (p.Ser287=)
c.969C>G (p.Ser323=)
c.*59C>G (n.*59C>G)
c.924C>G (p.Ser308=)
17g.6425574G>TCA497687354AIPL1c.1041C>A (p.Ser347=)
c.852C>A (p.Ser284=)
c.*913C>A (n.*913C>A)
c.975C>A (p.Ser325=)
c.251+8345C>A
c.1005C>A (p.Ser335=)
c.*1012C>A (n.*1012C>A)
c.861C>A (p.Ser287=)
c.969C>A (p.Ser323=)
c.*59C>A (n.*59C>A)
c.924C>A (p.Ser308=)
17g.6425576_6425611dupCA624859139AIPL1c.1006_1041dup (p.Ser347_Thr348insAlaGluProProThrGluProProAlaGlnSerSer)
c.817_852dup (p.Ser284_Thr285insAlaGluProProThrGluProProAlaGlnSerSer)
c.*878_*913dup (n.*878_*913dup)
c.940_975dup (p.Ser325_Thr326insAlaGluProProThrGluProProAlaGlnSerSer)
c.251+8310_251+8345dup
c.970_1005dup (p.Ser335_Thr336insAlaGluProProThrGluProProAlaGlnSerSer)
c.*977_*1012dup (n.*977_*1012dup)
c.826_861dup (p.Ser287_Thr288insAlaGluProProThrGluProProAlaGlnSerSer)
c.934_969dup (p.Ser323_Thr324insAlaGluProProThrGluProProAlaGlnSerSer)
c.*24_*59dup (n.*24_*59dup)
c.889_924dup (p.Ser308_Thr309insAlaGluProProThrGluProProAlaGlnSerSer)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425575G>ACA287323731AIPL1c.1040C>T (p.Ser347Phe)
c.851C>T (p.Ser284Phe)
c.*912C>T (n.*912C>T)
c.974C>T (p.Ser325Phe)
c.251+8344C>T
c.1004C>T (p.Ser335Phe)
c.*1011C>T (n.*1011C>T)
c.860C>T (p.Ser287Phe)
c.968C>T (p.Ser323Phe)
c.*58C>T (n.*58C>T)
c.923C>T (p.Ser308Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.6425575G>CCA397394379AIPL1c.1040C>G (p.Ser347Cys)
c.851C>G (p.Ser284Cys)
c.*912C>G (n.*912C>G)
c.974C>G (p.Ser325Cys)
c.251+8344C>G
c.1004C>G (p.Ser335Cys)
c.*1011C>G (n.*1011C>G)
c.860C>G (p.Ser287Cys)
c.968C>G (p.Ser323Cys)
c.*58C>G (n.*58C>G)
c.923C>G (p.Ser308Cys)
 gnomAD v4 COSMIC
17g.6425575G=CA2245346727AIPL1c.1040C= (p.Ser347=)
c.851C= (p.Ser284=)
c.*912C= (n.*912C=)
c.974C= (p.Ser325=)
c.251+8344C=
c.1004C= (p.Ser335=)
c.*1011C= (n.*1011C=)
c.860C= (p.Ser287=)
c.968C= (p.Ser323=)
c.*58C= (n.*58C=)
c.923C= (p.Ser308=)
17g.6425575G>TCA397394378AIPL1c.1040C>A (p.Ser347Tyr)
c.851C>A (p.Ser284Tyr)
c.*912C>A (n.*912C>A)
c.974C>A (p.Ser325Tyr)
c.251+8344C>A
c.1004C>A (p.Ser335Tyr)
c.*1011C>A (n.*1011C>A)
c.860C>A (p.Ser287Tyr)
c.968C>A (p.Ser323Tyr)
c.*58C>A (n.*58C>A)
c.923C>A (p.Ser308Tyr)
 gnomAD v4
17g.6425576A>CCA397394380AIPL1c.1039T>G (p.Ser347Ala)
c.850T>G (p.Ser284Ala)
c.*911T>G (n.*911T>G)
c.973T>G (p.Ser325Ala)
c.251+8343T>G
c.1003T>G (p.Ser335Ala)
c.*1010T>G (n.*1010T>G)
c.859T>G (p.Ser287Ala)
c.967T>G (p.Ser323Ala)
c.*57T>G (n.*57T>G)
c.922T>G (p.Ser308Ala)
17g.6425576A>GCA397394381AIPL1c.1039T>C (p.Ser347Pro)
c.850T>C (p.Ser284Pro)
c.*911T>C (n.*911T>C)
c.973T>C (p.Ser325Pro)
c.251+8343T>C
c.1003T>C (p.Ser335Pro)
c.*1010T>C (n.*1010T>C)
c.859T>C (p.Ser287Pro)
c.967T>C (p.Ser323Pro)
c.*57T>C (n.*57T>C)
c.922T>C (p.Ser308Pro)
17g.6425576A>TCA397394382AIPL1c.1039T>A (p.Ser347Thr)
c.850T>A (p.Ser284Thr)
c.*911T>A (n.*911T>A)
c.973T>A (p.Ser325Thr)
c.251+8343T>A
c.1003T>A (p.Ser335Thr)
c.*1010T>A (n.*1010T>A)
c.859T>A (p.Ser287Thr)
c.967T>A (p.Ser323Thr)
c.*57T>A (n.*57T>A)
c.922T>A (p.Ser308Thr)
17g.6425577T>ACA497687356AIPL1c.1038A>T (p.Ser346=)
c.849A>T (p.Ser283=)
c.*910A>T (n.*910A>T)
c.972A>T (p.Ser324=)
c.251+8342A>T
c.1002A>T (p.Ser334=)
c.*1009A>T (n.*1009A>T)
c.858A>T (p.Ser286=)
c.966A>T (p.Ser322=)
c.*56A>T (n.*56A>T)
c.921A>T (p.Ser307=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425577T>CCA497687357AIPL1c.1038A>G (p.Ser346=)
c.849A>G (p.Ser283=)
c.*910A>G (n.*910A>G)
c.972A>G (p.Ser324=)
c.251+8342A>G
c.1002A>G (p.Ser334=)
c.*1009A>G (n.*1009A>G)
c.858A>G (p.Ser286=)
c.966A>G (p.Ser322=)
c.*56A>G (n.*56A>G)
c.921A>G (p.Ser307=)
17g.6425577T>GCA497687358AIPL1c.1038A>C (p.Ser346=)
c.849A>C (p.Ser283=)
c.*910A>C (n.*910A>C)
c.972A>C (p.Ser324=)
c.251+8342A>C
c.1002A>C (p.Ser334=)
c.*1009A>C (n.*1009A>C)
c.858A>C (p.Ser286=)
c.966A>C (p.Ser322=)
c.*56A>C (n.*56A>C)
c.921A>C (p.Ser307=)
17g.6425577T=CA2245346730AIPL1c.1038A= (p.Ser346=)
c.849A= (p.Ser283=)
c.*910A= (n.*910A=)
c.972A= (p.Ser324=)
c.251+8342A=
c.1002A= (p.Ser334=)
c.*1009A= (n.*1009A=)
c.858A= (p.Ser286=)
c.966A= (p.Ser322=)
c.*56A= (n.*56A=)
c.921A= (p.Ser307=)
17g.6425579_6425590delCA2576142267AIPL1c.1027_1038del (p.Pro343_Ser346del)
c.838_849del (p.Pro280_Ser283del)
c.*899_*910del (n.*899_*910del)
c.961_972del (p.Pro321_Ser324del)
c.251+8331_251+8342del
c.991_1002del (p.Pro331_Ser334del)
c.*998_*1009del (n.*998_*1009del)
c.847_858del (p.Pro283_Ser286del)
c.955_966del (p.Pro319_Ser322del)
c.*45_*56del (n.*45_*56del)
c.910_921del (p.Pro304_Ser307del)
17g.6425578G>ACA397394383AIPL1c.1037C>T (p.Ser346Leu)
c.848C>T (p.Ser283Leu)
c.*909C>T (n.*909C>T)
c.971C>T (p.Ser324Leu)
c.251+8341C>T
c.1001C>T (p.Ser334Leu)
c.*1008C>T (n.*1008C>T)
c.857C>T (p.Ser286Leu)
c.965C>T (p.Ser322Leu)
c.*55C>T (n.*55C>T)
c.920C>T (p.Ser307Leu)
17g.6425578G>CCA397394384AIPL1c.1037C>G (p.Ser346Ter)
c.848C>G (p.Ser283Ter)
c.*909C>G (n.*909C>G)
c.971C>G (p.Ser324Ter)
c.251+8341C>G
c.1001C>G (p.Ser334Ter)
c.*1008C>G (n.*1008C>G)
c.857C>G (p.Ser286Ter)
c.965C>G (p.Ser322Ter)
c.*55C>G (n.*55C>G)
c.920C>G (p.Ser307Ter)
17g.6425578G>TCA397394385AIPL1c.1037C>A (p.Ser346Ter)
c.848C>A (p.Ser283Ter)
c.*909C>A (n.*909C>A)
c.971C>A (p.Ser324Ter)
c.251+8341C>A
c.1001C>A (p.Ser334Ter)
c.*1008C>A (n.*1008C>A)
c.857C>A (p.Ser286Ter)
c.965C>A (p.Ser322Ter)
c.*55C>A (n.*55C>A)
c.920C>A (p.Ser307Ter)
17g.6425579A=CA2245346734AIPL1c.1036T= (p.Ser346=)
c.847T= (p.Ser283=)
c.*908T= (n.*908T=)
c.970T= (p.Ser324=)
c.251+8340T=
c.1000T= (p.Ser334=)
c.*1007T= (n.*1007T=)
c.856T= (p.Ser286=)
c.964T= (p.Ser322=)
c.*54T= (n.*54T=)
c.919T= (p.Ser307=)
17g.6425579A>CCA397394386AIPL1c.1036T>G (p.Ser346Ala)
c.847T>G (p.Ser283Ala)
c.*908T>G (n.*908T>G)
c.970T>G (p.Ser324Ala)
c.251+8340T>G
c.1000T>G (p.Ser334Ala)
c.*1007T>G (n.*1007T>G)
c.856T>G (p.Ser286Ala)
c.964T>G (p.Ser322Ala)
c.*54T>G (n.*54T>G)
c.919T>G (p.Ser307Ala)
17g.6425579A>GCA8328325AIPL1c.1036T>C (p.Ser346Pro)
c.847T>C (p.Ser283Pro)
c.*908T>C (n.*908T>C)
c.970T>C (p.Ser324Pro)
c.251+8340T>C
c.1000T>C (p.Ser334Pro)
c.*1007T>C (n.*1007T>C)
c.856T>C (p.Ser286Pro)
c.964T>C (p.Ser322Pro)
c.*54T>C (n.*54T>C)
c.919T>C (p.Ser307Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425579A>TCA397394387AIPL1c.1036T>A (p.Ser346Thr)
c.847T>A (p.Ser283Thr)
c.*908T>A (n.*908T>A)
c.970T>A (p.Ser324Thr)
c.251+8340T>A
c.1000T>A (p.Ser334Thr)
c.*1007T>A (n.*1007T>A)
c.856T>A (p.Ser286Thr)
c.964T>A (p.Ser322Thr)
c.*54T>A (n.*54T>A)
c.919T>A (p.Ser307Thr)
17g.6425580C>ACA397394388AIPL1c.1035G>T (p.Gln345His)
c.846G>T (p.Gln282His)
c.*907G>T (n.*907G>T)
c.969G>T (p.Gln323His)
c.251+8339G>T
c.999G>T (p.Gln333His)
c.*1006G>T (n.*1006G>T)
c.855G>T (p.Gln285His)
c.963G>T (p.Gln321His)
c.*53G>T (n.*53G>T)
c.918G>T (p.Gln306His)
17g.6425580C>GCA397394389AIPL1c.1035G>C (p.Gln345His)
c.846G>C (p.Gln282His)
c.*907G>C (n.*907G>C)
c.969G>C (p.Gln323His)
c.251+8339G>C
c.999G>C (p.Gln333His)
c.*1006G>C (n.*1006G>C)
c.855G>C (p.Gln285His)
c.963G>C (p.Gln321His)
c.*53G>C (n.*53G>C)
c.918G>C (p.Gln306His)
17g.6425580C>TCA497687359AIPL1c.1035G>A (p.Gln345=)
c.846G>A (p.Gln282=)
c.*907G>A (n.*907G>A)
c.969G>A (p.Gln323=)
c.251+8339G>A
c.999G>A (p.Gln333=)
c.*1006G>A (n.*1006G>A)
c.855G>A (p.Gln285=)
c.963G>A (p.Gln321=)
c.*53G>A (n.*53G>A)
c.918G>A (p.Gln306=)
 gnomAD v4

Number of alleles fetched