Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.6425504_6425599dup	CA2635688832	AIPL1	c.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
17	g.6425516_6425539del	CA2635688834	AIPL1	c.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
17	g.6425514A=	CA2245346583	AIPL1	c.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=)
17	g.6425514A>C	CA497687301	AIPL1	c.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
17	g.6425514A>G	CA10606970	AIPL1	c.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
17	g.6425514A>T	CA497687302	AIPL1	c.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=)
17	g.6425514_6425515delinsAG	CA2245346584	AIPL1	c.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=)
17	g.6425515G>A	CA397394264	AIPL1	c.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
17	g.6425515G>C	CA397394263	AIPL1	c.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
17	g.6425515G=	CA2245346590	AIPL1	c.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=)
17	g.6425515G>T	CA397394265	AIPL1	c.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)
17	g.6425519dup	CA2635688836	AIPL1	c.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
17	g.6425519del	CA981100591	AIPL1	c.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
17	g.6425518_6425519del	CA2808334419	AIPL1	c.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?)
17	g.6425516G>A	CA397394266	AIPL1	c.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
17	g.6425516G>C	CA397394268	AIPL1	c.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
17	g.6425516G=	CA2245346595	AIPL1	c.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=)
17	g.6425516G>T	CA397394267	AIPL1	c.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
17	g.6425517G>A	CA497687303	AIPL1	c.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=)
17	g.6425517G>C	CA497687304	AIPL1	c.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=)
17	g.6425517G>T	CA497687305	AIPL1	c.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
17	g.6425518G>A	CA8328312	AIPL1	c.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
17	g.6425518G>C	CA397394269	AIPL1	c.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
17	g.6425518G=	CA2245346598	AIPL1	c.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=)
17	g.6425518G>T	CA397394270	AIPL1	c.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
17	g.6425519G>A	CA397394271	AIPL1	c.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
17	g.6425519G>C	CA397394272	AIPL1	c.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)
17	g.6425519G=	CA2245346603	AIPL1	c.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=)
17	g.6425519G>T	CA397394273	AIPL1	c.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
17	g.6425520C>A	CA497687307	AIPL1	c.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
17	g.6425520C=	CA2245346606	AIPL1	c.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=)
17	g.6425520C>G	CA497687308	AIPL1	c.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=)
17	g.6425520C>T	CA497687306	AIPL1	c.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
17	g.6425521C>A	CA397394274	AIPL1	c.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)
17	g.6425521C>G	CA397394275	AIPL1	c.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)
17	g.6425521C>T	CA397394276	AIPL1	c.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)
17	g.6425522C>A	CA397394277	AIPL1	c.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)
17	g.6425522C>G	CA397394278	AIPL1	c.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)
17	g.6425522C>T	CA397394279	AIPL1	c.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)
17	g.6425523T>A	CA497687309	AIPL1	c.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=)
17	g.6425523T>C	CA497687310	AIPL1	c.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
17	g.6425523T>G	CA497687311	AIPL1	c.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=)
17	g.6425524G>A	CA397394282	AIPL1	c.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)
17	g.6425524G>C	CA397394280	AIPL1	c.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)
17	g.6425524G>T	CA397394281	AIPL1	c.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
17	g.6425525C>A	CA8328313	AIPL1	c.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
17	g.6425525C=	CA2245346612	AIPL1	c.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=)
17	g.6425525C>G	CA397394283	AIPL1	c.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
17	g.6425525C>T	CA8328314	AIPL1	c.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
17	g.6425526G>A	CA497687312	AIPL1	c.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
17	g.6425526G>C	CA497687313	AIPL1	c.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
17	g.6425526G=	CA2245346621	AIPL1	c.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=)
17	g.6425526G>T	CA497687314	AIPL1	c.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=)
17	g.6425527G>A	CA397394284	AIPL1	c.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
17	g.6425527G>C	CA397394285	AIPL1	c.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)
17	g.6425527G=	CA2245346623	AIPL1	c.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=)
17	g.6425527G>T	CA397394286	AIPL1	c.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)
17	g.6425528del	CA2635688837	AIPL1	c.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
17	g.6425528A>C	CA397394287	AIPL1	c.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)
17	g.6425528A>G	CA397394288	AIPL1	c.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
17	g.6425528A>T	CA397394289	AIPL1	c.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
17	g.6425529C>A	CA497687315	AIPL1	c.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=)
17	g.6425529C=	CA2245346625	AIPL1	c.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=)
17	g.6425529C>G	CA497687316	AIPL1	c.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=)
17	g.6425529C>T	CA497687317	AIPL1	c.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
17	g.6425529_6425553delinsCAGCTCTGCAGATGGTGCTGTGGGT	CA2245346626	AIPL1	c.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=)
17	g.6425530A=	CA2245346629	AIPL1	c.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=)
17	g.6425530A>C	CA8328315	AIPL1	c.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
17	g.6425530A>G	CA397394290	AIPL1	c.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)
17	g.6425530A>T	CA397394291	AIPL1	c.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)
17	g.6425530_6425553del	CA2245346628	AIPL1	c.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
17	g.6425531G>A	CA497687318	AIPL1	c.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
17	g.6425531G>C	CA397394293	AIPL1	c.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
17	g.6425531G>T	CA397394292	AIPL1	c.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)
17	g.6425532C>A	CA397394294	AIPL1	c.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)
17	g.6425532C=	CA2245346635	AIPL1	c.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=)
17	g.6425532C>G	CA397394295	AIPL1	c.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)
17	g.6425532C>T	CA287323663	AIPL1	c.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
17	g.6425533T>A	CA397394296	AIPL1	c.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)
17	g.6425533T>C	CA397394297	AIPL1	c.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)
17	g.6425533T>G	CA397394298	AIPL1	c.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)
17	g.6425534C>A	CA397394301	AIPL1	c.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)
17	g.6425534C=	CA2245346637	AIPL1	c.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=)
17	g.6425534C>G	CA397394300	AIPL1	c.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
17	g.6425534C>T	CA397394299	AIPL1	c.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
17	g.6425535T>A	CA497687319	AIPL1	c.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=)
17	g.6425535T>C	CA497687320	AIPL1	c.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
17	g.6425535T>G	CA497687321	AIPL1	c.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
17	g.6425535T=	CA2245346641	AIPL1	c.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=)
17	g.6425536G>A	CA397394302	AIPL1	c.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)
17	g.6425536G>C	CA397394303	AIPL1	c.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)
17	g.6425536G>T	CA397394304	AIPL1	c.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
17	g.6425537C>A	CA397394305	AIPL1	c.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)
17	g.6425537C>G	CA397394306	AIPL1	c.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)
17	g.6425537C>T	CA397394307	AIPL1	c.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
17	g.6425538A>C	CA497687322	AIPL1	c.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=)
17	g.6425538A>G	CA497687323	AIPL1	c.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
17	g.6425538A>T	CA497687324	AIPL1	c.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=)
17	g.6425539G>A	CA397394310	AIPL1	c.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
17	g.6425539G>C	CA397394308	AIPL1	c.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)
17	g.6425539G>T	CA397394309	AIPL1	c.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)
17	g.6425540A=	CA2245346646	AIPL1	c.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=)
17	g.6425540A>C	CA397394311	AIPL1	c.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)
17	g.6425540A>G	CA8328316	AIPL1	c.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
17	g.6425540A>T	CA397394312	AIPL1	c.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)
17	g.6425541T>A	CA497687327	AIPL1	c.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=)
17	g.6425541T>C	CA497687326	AIPL1	c.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
17	g.6425541T>G	CA497687325	AIPL1	c.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=)
17	g.6425542G>A	CA397394313	AIPL1	c.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
17	g.6425542G>C	CA397394314	AIPL1	c.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)
17	g.6425542G>T	CA397394315	AIPL1	c.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
17	g.6425543G>A	CA397394316	AIPL1	c.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
17	g.6425543G>C	CA397394317	AIPL1	c.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
17	g.6425543G>T	CA397394318	AIPL1	c.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
17	g.6425544T>A	CA497687328	AIPL1	c.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=)
17	g.6425544T>C	CA497687329	AIPL1	c.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=)
17	g.6425544T>G	CA497687330	AIPL1	c.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=)
17	g.6425545G>A	CA397394319	AIPL1	c.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
17	g.6425545G>C	CA397394320	AIPL1	c.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)
17	g.6425545G=	CA2245346651	AIPL1	c.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=)
17	g.6425545G>T	CA397394321	AIPL1	c.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)
17	g.6425546C>A	CA397394322	AIPL1	c.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)
17	g.6425546C=	CA2245346656	AIPL1	c.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=)
17	g.6425546C>G	CA397394323	AIPL1	c.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)
17	g.6425546C>T	CA8328318	AIPL1	c.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
17	g.6425549_6425560dup	CA8328317	AIPL1	c.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
17	g.6425547T>A	CA497687331	AIPL1	c.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=)
17	g.6425547T>C	CA497687332	AIPL1	c.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=)
17	g.6425547T>G	CA497687333	AIPL1	c.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=)
17	g.6425548G>A	CA397394326	AIPL1	c.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
17	g.6425548G>C	CA397394324	AIPL1	c.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
17	g.6425548G>T	CA397394325	AIPL1	c.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)
17	g.6425549T>A	CA397394327	AIPL1	c.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)
17	g.6425549T>C	CA397394328	AIPL1	c.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
17	g.6425549T>G	CA397394329	AIPL1	c.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)
17	g.6425549T=	CA2245346662	AIPL1	c.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=)
17	g.6425550G>A	CA497687334	AIPL1	c.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=)
17	g.6425550G>C	CA497687335	AIPL1	c.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=)
17	g.6425550G>T	CA497687336	AIPL1	c.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
17	g.6425550_6425561dup	CA8328319	AIPL1	c.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
17	g.6425550_6425562delinsGGGTGGCTCTGCA	CA2245346671	AIPL1	c.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=)
17	g.6425551G>A	CA397394330	AIPL1	c.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
17	g.6425551G>C	CA397394331	AIPL1	c.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)
17	g.6425551G>T	CA397394332	AIPL1	c.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)
17	g.6425561_6425572del	CA117602	AIPL1	c.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
17	g.6425552G>A	CA397394335	AIPL1	c.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)
17	g.6425552G>C	CA397394334	AIPL1	c.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)
17	g.6425552G>T	CA397394333	AIPL1	c.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)
17	g.6425553T>A	CA497687337	AIPL1	c.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=)
17	g.6425553T>C	CA497687338	AIPL1	c.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=)
17	g.6425553T>G	CA497687339	AIPL1	c.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=)
17	g.6425554G>A	CA8328320	AIPL1	c.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
17	g.6425554G>C	CA397394336	AIPL1	c.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)
17	g.6425554G=	CA2245346679	AIPL1	c.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=)
17	g.6425554G>T	CA397394337	AIPL1	c.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)
17	g.6425555G>A	CA397394338	AIPL1	c.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
17	g.6425555G>C	CA397394339	AIPL1	c.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)
17	g.6425555G>T	CA397394340	AIPL1	c.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
17	g.6425556C>A	CA397394341	AIPL1	c.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)
17	g.6425556C>G	CA397394342	AIPL1	c.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)
17	g.6425556C>T	CA497687340	AIPL1	c.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=)
17	g.6425557T>A	CA397394343	AIPL1	c.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)
17	g.6425557T>C	CA397394344	AIPL1	c.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
17	g.6425557T>G	CA397394345	AIPL1	c.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)
17	g.6425557T=	CA2245346684	AIPL1	c.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=)
17	g.6425558C>A	CA397394347	AIPL1	c.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)
17	g.6425558C>G	CA397394348	AIPL1	c.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)
17	g.6425558C>T	CA397394346	AIPL1	c.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)
17	g.6425559T>A	CA497687341	AIPL1	c.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=)
17	g.6425559T>C	CA497687342	AIPL1	c.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=)
17	g.6425559T>G	CA497687343	AIPL1	c.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=)
17	g.6425560G>A	CA397394349	AIPL1	c.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)
17	g.6425560G>C	CA397394350	AIPL1	c.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)
17	g.6425560G>T	CA397394351	AIPL1	c.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
17	g.6425561C>A	CA397394352	AIPL1	c.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)
17	g.6425561C=	CA2245346689	AIPL1	c.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=)
17	g.6425561C>G	CA397394353	AIPL1	c.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)
17	g.6425561C>T	CA8328321	AIPL1	c.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
17	g.6425562A=	CA2245346693	AIPL1	c.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=)
17	g.6425562A>C	CA497687344	AIPL1	c.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=)
17	g.6425562A>G	CA497687346	AIPL1	c.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
17	g.6425562A>T	CA497687345	AIPL1	c.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=)
17	g.6425562_6425586delinsAGGTGGCTCTGTGGATGACTGTGCG	CA2245346692	AIPL1	c.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=)
17	g.6425563G>A	CA287323721	AIPL1	c.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
17	g.6425563G>C	CA397394354	AIPL1	c.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)
17	g.6425563G=	CA2245346701	AIPL1	c.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=)
17	g.6425563G>T	CA397394355	AIPL1	c.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)
17	g.6425576_6425599dup	CA624859136	AIPL1	c.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
17	g.6425576_6425599del	CA8328322	AIPL1	c.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
17	g.6425564G>A	CA8328323	AIPL1	c.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
17	g.6425564G>C	CA397394356	AIPL1	c.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)
17	g.6425564G=	CA2245346706	AIPL1	c.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=)
17	g.6425564G>T	CA397394357	AIPL1	c.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)
17	g.6425565T>A	CA497687347	AIPL1	c.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
17	g.6425565T>C	CA497687348	AIPL1	c.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=)
17	g.6425565T>G	CA497687349	AIPL1	c.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=)
17	g.6425565T=	CA2245346709	AIPL1	c.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=)
17	g.6425566G>A	CA397394360	AIPL1	c.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)
17	g.6425566G>C	CA397394359	AIPL1	c.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)
17	g.6425566G>T	CA397394358	AIPL1	c.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
17	g.6425567G>A	CA397394361	AIPL1	c.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
17	g.6425567G>C	CA397394362	AIPL1	c.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
17	g.6425567G=	CA2245346711	AIPL1	c.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=)
17	g.6425567G>T	CA397394363	AIPL1	c.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)
17	g.6425568C>A	CA397394364	AIPL1	c.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)
17	g.6425568C=	CA2245346717	AIPL1	c.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=)
17	g.6425568C>G	CA397394365	AIPL1	c.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)
17	g.6425568C>T	CA8328324	AIPL1	c.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
17	g.6425569T>A	CA397394366	AIPL1	c.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)
17	g.6425569T>C	CA397394367	AIPL1	c.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
17	g.6425569T>G	CA397394368	AIPL1	c.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)
17	g.6425569T=	CA2245346720	AIPL1	c.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=)
17	g.6425570C>A	CA397394369	AIPL1	c.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)
17	g.6425570C>G	CA397394370	AIPL1	c.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)
17	g.6425570C>T	CA397394371	AIPL1	c.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)
17	g.6425571T>A	CA497687350	AIPL1	c.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=)
17	g.6425571T>C	CA497687351	AIPL1	c.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=)
17	g.6425571T>G	CA497687352	AIPL1	c.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
17	g.6425572G>A	CA397394374	AIPL1	c.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)
17	g.6425572G>C	CA397394373	AIPL1	c.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)
17	g.6425572G>T	CA397394372	AIPL1	c.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
17	g.6425573T>A	CA397394375	AIPL1	c.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)
17	g.6425573T>C	CA397394377	AIPL1	c.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)
17	g.6425573T>G	CA397394376	AIPL1	c.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)
17	g.6425573T=	CA2245346723	AIPL1	c.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=)
17	g.6425574G>A	CA497687353	AIPL1	c.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=)
17	g.6425574G>C	CA497687355	AIPL1	c.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=)
17	g.6425574G>T	CA497687354	AIPL1	c.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=)
17	g.6425576_6425611dup	CA624859139	AIPL1	c.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
17	g.6425575G>A	CA287323731	AIPL1	c.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
17	g.6425575G>C	CA397394379	AIPL1	c.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
17	g.6425575G=	CA2245346727	AIPL1	c.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=)
17	g.6425575G>T	CA397394378	AIPL1	c.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
17	g.6425576A>C	CA397394380	AIPL1	c.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)
17	g.6425576A>G	CA397394381	AIPL1	c.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)
17	g.6425576A>T	CA397394382	AIPL1	c.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)
17	g.6425577T>A	CA497687356	AIPL1	c.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
17	g.6425577T>C	CA497687357	AIPL1	c.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=)
17	g.6425577T>G	CA497687358	AIPL1	c.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=)
17	g.6425577T=	CA2245346730	AIPL1	c.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=)
17	g.6425579_6425590del	CA2576142267	AIPL1	c.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)
17	g.6425578G>A	CA397394383	AIPL1	c.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)
17	g.6425578G>C	CA397394384	AIPL1	c.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)
17	g.6425578G>T	CA397394385	AIPL1	c.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)
17	g.6425579A=	CA2245346734	AIPL1	c.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=)
17	g.6425579A>C	CA397394386	AIPL1	c.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)
17	g.6425579A>G	CA8328325	AIPL1	c.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
17	g.6425579A>T	CA397394387	AIPL1	c.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)
17	g.6425580C>A	CA397394388	AIPL1	c.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)
17	g.6425580C>G	CA397394389	AIPL1	c.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)
17	g.6425580C>T	CA497687359	AIPL1	c.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
17	g.6425581T>A	CA397394390	AIPL1	c.1034A>T (p.Gln345Leu) c.845A>T (p.Gln282Leu) c.906A>T (n.906A>T) c.968A>T (p.Gln323Leu) c.251+8338A>T c.998A>T (p.Gln333Leu) c.1005A>T (n.1005A>T) c.854A>T (p.Gln285Leu) c.962A>T (p.Gln321Leu) c.52A>T (n.52A>T) c.917A>T (p.Gln306Leu)
17	g.6425581T>C	CA397394392	AIPL1	c.1034A>G (p.Gln345Arg) c.845A>G (p.Gln282Arg) c.906A>G (n.906A>G) c.968A>G (p.Gln323Arg) c.251+8338A>G c.998A>G (p.Gln333Arg) c.1005A>G (n.1005A>G) c.854A>G (p.Gln285Arg) c.962A>G (p.Gln321Arg) c.52A>G (n.52A>G) c.917A>G (p.Gln306Arg)
17	g.6425581T>G	CA397394391	AIPL1	c.1034A>C (p.Gln345Pro) c.845A>C (p.Gln282Pro) c.906A>C (n.906A>C) c.968A>C (p.Gln323Pro) c.251+8338A>C c.998A>C (p.Gln333Pro) c.1005A>C (n.1005A>C) c.854A>C (p.Gln285Pro) c.962A>C (p.Gln321Pro) c.52A>C (n.52A>C) c.917A>C (p.Gln306Pro)
17	g.6425582G>A	CA397394393	AIPL1	c.1033C>T (p.Gln345Ter) c.844C>T (p.Gln282Ter) c.905C>T (n.905C>T) c.967C>T (p.Gln323Ter) c.251+8337C>T c.997C>T (p.Gln333Ter) c.1004C>T (n.1004C>T) c.853C>T (p.Gln285Ter) c.961C>T (p.Gln321Ter) c.51C>T (n.51C>T) c.916C>T (p.Gln306Ter)	gnomAD v4
17	g.6425582G>C	CA397394394	AIPL1	c.1033C>G (p.Gln345Glu) c.844C>G (p.Gln282Glu) c.905C>G (n.905C>G) c.967C>G (p.Gln323Glu) c.251+8337C>G c.997C>G (p.Gln333Glu) c.1004C>G (n.1004C>G) c.853C>G (p.Gln285Glu) c.961C>G (p.Gln321Glu) c.51C>G (n.51C>G) c.916C>G (p.Gln306Glu)	gnomAD v4
17	g.6425582G>T	CA397394395	AIPL1	c.1033C>A (p.Gln345Lys) c.844C>A (p.Gln282Lys) c.905C>A (n.905C>A) c.967C>A (p.Gln323Lys) c.251+8337C>A c.997C>A (p.Gln333Lys) c.1004C>A (n.1004C>A) c.853C>A (p.Gln285Lys) c.961C>A (p.Gln321Lys) c.51C>A (n.51C>A) c.916C>A (p.Gln306Lys)
17	g.6425583T>A	CA497687360	AIPL1	c.1032A>T (p.Ala344=) c.843A>T (p.Ala281=) c.904A>T (n.904A>T) c.966A>T (p.Ala322=) c.251+8336A>T c.996A>T (p.Ala332=) c.1003A>T (n.1003A>T) c.852A>T (p.Ala284=) c.960A>T (p.Ala320=) c.50A>T (n.50A>T) c.915A>T (p.Ala305=)
17	g.6425583T>C	CA497687361	AIPL1	c.1032A>G (p.Ala344=) c.843A>G (p.Ala281=) c.904A>G (n.904A>G) c.966A>G (p.Ala322=) c.251+8336A>G c.996A>G (p.Ala332=) c.1003A>G (n.1003A>G) c.852A>G (p.Ala284=) c.960A>G (p.Ala320=) c.50A>G (n.50A>G) c.915A>G (p.Ala305=)
17	g.6425583T>G	CA497687362	AIPL1	c.1032A>C (p.Ala344=) c.843A>C (p.Ala281=) c.904A>C (n.904A>C) c.966A>C (p.Ala322=) c.251+8336A>C c.996A>C (p.Ala332=) c.1003A>C (n.1003A>C) c.852A>C (p.Ala284=) c.960A>C (p.Ala320=) c.50A>C (n.50A>C) c.915A>C (p.Ala305=)
17	g.6425584G>A	CA397394396	AIPL1	c.1031C>T (p.Ala344Val) c.842C>T (p.Ala281Val) c.903C>T (n.903C>T) c.965C>T (p.Ala322Val) c.251+8335C>T c.995C>T (p.Ala332Val) c.1002C>T (n.1002C>T) c.851C>T (p.Ala284Val) c.959C>T (p.Ala320Val) c.49C>T (n.49C>T) c.914C>T (p.Ala305Val)	gnomAD v4
17	g.6425584G>C	CA397394397	AIPL1	c.1031C>G (p.Ala344Gly) c.842C>G (p.Ala281Gly) c.903C>G (n.903C>G) c.965C>G (p.Ala322Gly) c.251+8335C>G c.995C>G (p.Ala332Gly) c.1002C>G (n.1002C>G) c.851C>G (p.Ala284Gly) c.959C>G (p.Ala320Gly) c.49C>G (n.49C>G) c.914C>G (p.Ala305Gly)	dbSNP
17	g.6425584G=	CA2245346738	AIPL1	c.1031C= (p.Ala344=) c.842C= (p.Ala281=) c.903C= (n.903C=) c.965C= (p.Ala322=) c.251+8335C= c.995C= (p.Ala332=) c.1002C= (n.1002C=) c.851C= (p.Ala284=) c.959C= (p.Ala320=) c.49C= (n.49C=) c.914C= (p.Ala305=)
17	g.6425584G>T	CA397394398	AIPL1	c.1031C>A (p.Ala344Glu) c.842C>A (p.Ala281Glu) c.903C>A (n.903C>A) c.965C>A (p.Ala322Glu) c.251+8335C>A c.995C>A (p.Ala332Glu) c.1002C>A (n.1002C>A) c.851C>A (p.Ala284Glu) c.959C>A (p.Ala320Glu) c.49C>A (n.49C>A) c.914C>A (p.Ala305Glu)	gnomAD v4
17	g.6425585C>A	CA8328326	AIPL1	c.1030G>T (p.Ala344Ser) c.841G>T (p.Ala281Ser) c.902G>T (n.902G>T) c.964G>T (p.Ala322Ser) c.251+8334G>T c.994G>T (p.Ala332Ser) c.1001G>T (n.1001G>T) c.850G>T (p.Ala284Ser) c.958G>T (p.Ala320Ser) c.48G>T (n.48G>T) c.913G>T (p.Ala305Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.6425585C=	CA2245346743	AIPL1	c.1030G= (p.Ala344=) c.841G= (p.Ala281=) c.902G= (n.902G=) c.964G= (p.Ala322=) c.251+8334G= c.994G= (p.Ala332=) c.1001G= (n.1001G=) c.850G= (p.Ala284=) c.958G= (p.Ala320=) c.48G= (n.48G=) c.913G= (p.Ala305=)
17	g.6425585C>G	CA397394399	AIPL1	c.1030G>C (p.Ala344Pro) c.841G>C (p.Ala281Pro) c.902G>C (n.902G>C) c.964G>C (p.Ala322Pro) c.251+8334G>C c.994G>C (p.Ala332Pro) c.1001G>C (n.1001G>C) c.850G>C (p.Ala284Pro) c.958G>C (p.Ala320Pro) c.48G>C (n.48G>C) c.913G>C (p.Ala305Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.6425585C>T	CA397394400	AIPL1	c.1030G>A (p.Ala344Thr) c.841G>A (p.Ala281Thr) c.902G>A (n.902G>A) c.964G>A (p.Ala322Thr) c.251+8334G>A c.994G>A (p.Ala332Thr) c.1001G>A (n.1001G>A) c.850G>A (p.Ala284Thr) c.958G>A (p.Ala320Thr) c.48G>A (n.48G>A) c.913G>A (p.Ala305Thr)	dbSNP gnomAD v4 COSMIC
17	g.6425585_6425586delinsCG	CA2245346745	AIPL1	c.1029_1030delinsCG (p.Pro343=) c.840_841delinsCG (p.Pro280=) c.901_902delinsCG (n.901_902delinsCG) c.963_964delinsCG (p.Pro321=) c.251+8333_251+8334delinsCG c.993_994delinsCG (p.Pro331=) c.1000_1001delinsCG (n.1000_1001delinsCG) c.849_850delinsCG (p.Pro283=) c.957_958delinsCG (p.Pro319=) c.47_48delinsCG (n.47_48delinsCG) c.912_913delinsCG (p.Pro304=)
17	g.6425586G>A	CA497687363	AIPL1	c.1029C>T (p.Pro343=) c.840C>T (p.Pro280=) c.901C>T (n.901C>T) c.963C>T (p.Pro321=) c.251+8333C>T c.993C>T (p.Pro331=) c.1000C>T (n.1000C>T) c.849C>T (p.Pro283=) c.957C>T (p.Pro319=) c.47C>T (n.47C>T) c.912C>T (p.Pro304=)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.6425586G>C	CA497687364	AIPL1	c.1029C>G (p.Pro343=) c.840C>G (p.Pro280=) c.901C>G (n.901C>G) c.963C>G (p.Pro321=) c.251+8333C>G c.993C>G (p.Pro331=) c.1000C>G (n.1000C>G) c.849C>G (p.Pro283=) c.957C>G (p.Pro319=) c.47C>G (n.47C>G) c.912C>G (p.Pro304=)	dbSNP gnomAD v3 gnomAD v4
17	g.6425586G=	CA2245346748	AIPL1	c.1029C= (p.Pro343=) c.840C= (p.Pro280=) c.901C= (n.901C=) c.963C= (p.Pro321=) c.251+8333C= c.993C= (p.Pro331=) c.1000C= (n.1000C=) c.849C= (p.Pro283=) c.957C= (p.Pro319=) c.47C= (n.47C=) c.912C= (p.Pro304=)
17	g.6425586G>T	CA497687365	AIPL1	c.1029C>A (p.Pro343=) c.840C>A (p.Pro280=) c.901C>A (n.901C>A) c.963C>A (p.Pro321=) c.251+8333C>A c.993C>A (p.Pro331=) c.1000C>A (n.1000C>A) c.849C>A (p.Pro283=) c.957C>A (p.Pro319=) c.47C>A (n.47C>A) c.912C>A (p.Pro304=)	gnomAD v4
17	g.6425588del	CA624859140	AIPL1	c.1029del (p.Ala344HisfsTer?) c.840del (p.Ala281HisfsTer?) c.901del (n.901del) c.963del (p.Ala322HisfsTer?) c.251+8333del c.993del (p.Ala332HisfsTer?) c.1000del (n.1000del) c.849del (p.Ala284HisfsTer?) c.957del (p.Ala320HisfsTer?) c.47del (n.47del) c.912del (p.Ala305HisfsTer?)	dbSNP gnomAD v2 gnomAD v4
17	g.6425597_6425608dup	CA2635688838	AIPL1	c.1018_1029dup (p.Pro343_Ala344insThrGluProPro) c.829_840dup (p.Pro280_Ala281insThrGluProPro) c.890_901dup (n.890_901dup) c.952_963dup (p.Pro321_Ala322insThrGluProPro) c.251+8322_251+8333dup c.982_993dup (p.Pro331_Ala332insThrGluProPro) c.989_1000dup (n.989_1000dup) c.838_849dup (p.Pro283_Ala284insThrGluProPro) c.946_957dup (p.Pro319_Ala320insThrGluProPro) c.36_47dup (n.36_47dup) c.901_912dup (p.Pro304_Ala305insThrGluProPro)	gnomAD v4
17	g.6425597_6425608del	CA2527199511	AIPL1	c.1018_1029del (p.Thr340_Pro343del) c.829_840del (p.Thr277_Pro280del) c.890_901del (n.890_901del) c.952_963del (p.Thr318_Pro321del) c.251+8322_251+8333del c.982_993del (p.Thr328_Pro331del) c.989_1000del (n.989_1000del) c.838_849del (p.Thr280_Pro283del) c.946_957del (p.Thr316_Pro319del) c.36_47del (n.36_47del) c.901_912del (p.Thr301_Pro304del)	gnomAD v4
17	g.6425587G>A	CA8328327	AIPL1	c.1028C>T (p.Pro343Leu) c.839C>T (p.Pro280Leu) c.900C>T (n.900C>T) c.962C>T (p.Pro321Leu) c.251+8332C>T c.992C>T (p.Pro331Leu) c.999C>T (n.999C>T) c.848C>T (p.Pro283Leu) c.956C>T (p.Pro319Leu) c.46C>T (n.46C>T) c.911C>T (p.Pro304Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.6425587G>C	CA397394402	AIPL1	c.1028C>G (p.Pro343Arg) c.839C>G (p.Pro280Arg) c.900C>G (n.900C>G) c.962C>G (p.Pro321Arg) c.251+8332C>G c.992C>G (p.Pro331Arg) c.999C>G (n.999C>G) c.848C>G (p.Pro283Arg) c.956C>G (p.Pro319Arg) c.46C>G (n.46C>G) c.911C>G (p.Pro304Arg)	gnomAD v4
17	g.6425587G=	CA2245346752	AIPL1	c.1028C= (p.Pro343=) c.839C= (p.Pro280=) c.900C= (n.900C=) c.962C= (p.Pro321=) c.251+8332C= c.992C= (p.Pro331=) c.999C= (n.999C=) c.848C= (p.Pro283=) c.956C= (p.Pro319=) c.46C= (n.46C=) c.911C= (p.Pro304=)
17	g.6425587G>T	CA397394401	AIPL1	c.1028C>A (p.Pro343His) c.839C>A (p.Pro280His) c.900C>A (n.900C>A) c.962C>A (p.Pro321His) c.251+8332C>A c.992C>A (p.Pro331His) c.999C>A (n.999C>A) c.848C>A (p.Pro283His) c.956C>A (p.Pro319His) c.46C>A (n.46C>A) c.911C>A (p.Pro304His)
17	g.6425588G>A	CA397394403	AIPL1	c.1027C>T (p.Pro343Ser) c.838C>T (p.Pro280Ser) c.899C>T (n.899C>T) c.961C>T (p.Pro321Ser) c.251+8331C>T c.991C>T (p.Pro331Ser) c.998C>T (n.998C>T) c.847C>T (p.Pro283Ser) c.955C>T (p.Pro319Ser) c.45C>T (n.45C>T) c.910C>T (p.Pro304Ser)
17	g.6425588G>C	CA397394404	AIPL1	c.1027C>G (p.Pro343Ala) c.838C>G (p.Pro280Ala) c.899C>G (n.899C>G) c.961C>G (p.Pro321Ala) c.251+8331C>G c.991C>G (p.Pro331Ala) c.998C>G (n.998C>G) c.847C>G (p.Pro283Ala) c.955C>G (p.Pro319Ala) c.45C>G (n.45C>G) c.910C>G (p.Pro304Ala)
17	g.6425588G>T	CA397394405	AIPL1	c.1027C>A (p.Pro343Thr) c.838C>A (p.Pro280Thr) c.899C>A (n.899C>A) c.961C>A (p.Pro321Thr) c.251+8331C>A c.991C>A (p.Pro331Thr) c.998C>A (n.998C>A) c.847C>A (p.Pro283Thr) c.955C>A (p.Pro319Thr) c.45C>A (n.45C>A) c.910C>A (p.Pro304Thr)
17	g.6425589T>A	CA497687366	AIPL1	c.1026A>T (p.Pro342=) c.837A>T (p.Pro279=) c.898A>T (n.898A>T) c.960A>T (p.Pro320=) c.251+8330A>T c.990A>T (p.Pro330=) c.997A>T (n.997A>T) c.846A>T (p.Pro282=) c.954A>T (p.Pro318=) c.44A>T (n.44A>T) c.909A>T (p.Pro303=)
17	g.6425589T>C	CA497687367	AIPL1	c.1026A>G (p.Pro342=) c.837A>G (p.Pro279=) c.898A>G (n.898A>G) c.960A>G (p.Pro320=) c.251+8330A>G c.990A>G (p.Pro330=) c.997A>G (n.997A>G) c.846A>G (p.Pro282=) c.954A>G (p.Pro318=) c.44A>G (n.44A>G) c.909A>G (p.Pro303=)
17	g.6425589T>G	CA497687368	AIPL1	c.1026A>C (p.Pro342=) c.837A>C (p.Pro279=) c.898A>C (n.898A>C) c.960A>C (p.Pro320=) c.251+8330A>C c.990A>C (p.Pro330=) c.997A>C (n.997A>C) c.846A>C (p.Pro282=) c.954A>C (p.Pro318=) c.44A>C (n.44A>C) c.909A>C (p.Pro303=)	dbSNP
17	g.6425589T=	CA2245346757	AIPL1	c.1026A= (p.Pro342=) c.837A= (p.Pro279=) c.898A= (n.898A=) c.960A= (p.Pro320=) c.251+8330A= c.990A= (p.Pro330=) c.997A= (n.997A=) c.846A= (p.Pro282=) c.954A= (p.Pro318=) c.44A= (n.44A=) c.909A= (p.Pro303=)
17	g.6425590G>A	CA397394406	AIPL1	c.1025C>T (p.Pro342Leu) c.836C>T (p.Pro279Leu) c.897C>T (n.897C>T) c.959C>T (p.Pro320Leu) c.251+8329C>T c.989C>T (p.Pro330Leu) c.996C>T (n.996C>T) c.845C>T (p.Pro282Leu) c.953C>T (p.Pro318Leu) c.43C>T (n.43C>T) c.908C>T (p.Pro303Leu)	dbSNP gnomAD v2
17	g.6425590G>C	CA397394407	AIPL1	c.1025C>G (p.Pro342Arg) c.836C>G (p.Pro279Arg) c.897C>G (n.897C>G) c.959C>G (p.Pro320Arg) c.251+8329C>G c.989C>G (p.Pro330Arg) c.996C>G (n.996C>G) c.845C>G (p.Pro282Arg) c.953C>G (p.Pro318Arg) c.43C>G (n.43C>G) c.908C>G (p.Pro303Arg)
17	g.6425590G=	CA2245346759	AIPL1	c.1025C= (p.Pro342=) c.836C= (p.Pro279=) c.897C= (n.897C=) c.959C= (p.Pro320=) c.251+8329C= c.989C= (p.Pro330=) c.996C= (n.996C=) c.845C= (p.Pro282=) c.953C= (p.Pro318=) c.43C= (n.43C=) c.908C= (p.Pro303=)
17	g.6425590G>T	CA397394408	AIPL1	c.1025C>A (p.Pro342Gln) c.836C>A (p.Pro279Gln) c.897C>A (n.897C>A) c.959C>A (p.Pro320Gln) c.251+8329C>A c.989C>A (p.Pro330Gln) c.996C>A (n.996C>A) c.845C>A (p.Pro282Gln) c.953C>A (p.Pro318Gln) c.43C>A (n.43C>A) c.908C>A (p.Pro303Gln)	COSMIC
17	g.6425591G>A	CA8328328	AIPL1	c.1024C>T (p.Pro342Ser) c.835C>T (p.Pro279Ser) c.896C>T (n.896C>T) c.958C>T (p.Pro320Ser) c.251+8328C>T c.988C>T (p.Pro330Ser) c.995C>T (n.995C>T) c.844C>T (p.Pro282Ser) c.952C>T (p.Pro318Ser) c.42C>T (n.42C>T) c.907C>T (p.Pro303Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.6425591G>C	CA397394409	AIPL1	c.1024C>G (p.Pro342Ala) c.835C>G (p.Pro279Ala) c.896C>G (n.896C>G) c.958C>G (p.Pro320Ala) c.251+8328C>G c.988C>G (p.Pro330Ala) c.995C>G (n.995C>G) c.844C>G (p.Pro282Ala) c.952C>G (p.Pro318Ala) c.42C>G (n.42C>G) c.907C>G (p.Pro303Ala)
17	g.6425591G=	CA2245346762	AIPL1	c.1024C= (p.Pro342=) c.835C= (p.Pro279=) c.896C= (n.896C=) c.958C= (p.Pro320=) c.251+8328C= c.988C= (p.Pro330=) c.995C= (n.995C=) c.844C= (p.Pro282=) c.952C= (p.Pro318=) c.42C= (n.42C=) c.907C= (p.Pro303=)
17	g.6425591G>T	CA397394410	AIPL1	c.1024C>A (p.Pro342Thr) c.835C>A (p.Pro279Thr) c.896C>A (n.896C>A) c.958C>A (p.Pro320Thr) c.251+8328C>A c.988C>A (p.Pro330Thr) c.995C>A (n.995C>A) c.844C>A (p.Pro282Thr) c.952C>A (p.Pro318Thr) c.42C>A (n.42C>A) c.907C>A (p.Pro303Thr)
17	g.6425592C>A	CA397394411	AIPL1	c.1023G>T (p.Glu341Asp) c.834G>T (p.Glu278Asp) c.895G>T (n.895G>T) c.957G>T (p.Glu319Asp) c.251+8327G>T c.987G>T (p.Glu329Asp) c.994G>T (n.994G>T) c.843G>T (p.Glu281Asp) c.951G>T (p.Glu317Asp) c.41G>T (n.41G>T) c.906G>T (p.Glu302Asp)
17	g.6425592C>G	CA397394412	AIPL1	c.1023G>C (p.Glu341Asp) c.834G>C (p.Glu278Asp) c.895G>C (n.895G>C) c.957G>C (p.Glu319Asp) c.251+8327G>C c.987G>C (p.Glu329Asp) c.994G>C (n.994G>C) c.843G>C (p.Glu281Asp) c.951G>C (p.Glu317Asp) c.41G>C (n.41G>C) c.906G>C (p.Glu302Asp)
17	g.6425592C>T	CA497687369	AIPL1	c.1023G>A (p.Glu341=) c.834G>A (p.Glu278=) c.895G>A (n.895G>A) c.957G>A (p.Glu319=) c.251+8327G>A c.987G>A (p.Glu329=) c.994G>A (n.994G>A) c.843G>A (p.Glu281=) c.951G>A (p.Glu317=) c.41G>A (n.41G>A) c.906G>A (p.Glu302=)	gnomAD v4
17	g.6425593T>A	CA397394415	AIPL1	c.1022A>T (p.Glu341Val) c.833A>T (p.Glu278Val) c.894A>T (n.894A>T) c.956A>T (p.Glu319Val) c.251+8326A>T c.986A>T (p.Glu329Val) c.993A>T (n.993A>T) c.842A>T (p.Glu281Val) c.950A>T (p.Glu317Val) c.40A>T (n.40A>T) c.905A>T (p.Glu302Val)
17	g.6425593T>C	CA397394414	AIPL1	c.1022A>G (p.Glu341Gly) c.833A>G (p.Glu278Gly) c.894A>G (n.894A>G) c.956A>G (p.Glu319Gly) c.251+8326A>G c.986A>G (p.Glu329Gly) c.993A>G (n.993A>G) c.842A>G (p.Glu281Gly) c.950A>G (p.Glu317Gly) c.40A>G (n.40A>G) c.905A>G (p.Glu302Gly)	gnomAD v4 COSMIC
17	g.6425593T>G	CA397394413	AIPL1	c.1022A>C (p.Glu341Ala) c.833A>C (p.Glu278Ala) c.894A>C (n.894A>C) c.956A>C (p.Glu319Ala) c.251+8326A>C c.986A>C (p.Glu329Ala) c.993A>C (n.993A>C) c.842A>C (p.Glu281Ala) c.950A>C (p.Glu317Ala) c.40A>C (n.40A>C) c.905A>C (p.Glu302Ala)
17	g.6425594C>A	CA397394416	AIPL1	c.1021G>T (p.Glu341Ter) c.832G>T (p.Glu278Ter) c.893G>T (n.893G>T) c.955G>T (p.Glu319Ter) c.251+8325G>T c.985G>T (p.Glu329Ter) c.992G>T (n.992G>T) c.841G>T (p.Glu281Ter) c.949G>T (p.Glu317Ter) c.39G>T (n.39G>T) c.904G>T (p.Glu302Ter)	COSMIC
17	g.6425594C>G	CA397394417	AIPL1	c.1021G>C (p.Glu341Gln) c.832G>C (p.Glu278Gln) c.893G>C (n.893G>C) c.955G>C (p.Glu319Gln) c.251+8325G>C c.985G>C (p.Glu329Gln) c.992G>C (n.992G>C) c.841G>C (p.Glu281Gln) c.949G>C (p.Glu317Gln) c.39G>C (n.39G>C) c.904G>C (p.Glu302Gln)
17	g.6425594C>T	CA397394418	AIPL1	c.1021G>A (p.Glu341Lys) c.832G>A (p.Glu278Lys) c.893G>A (n.893G>A) c.955G>A (p.Glu319Lys) c.251+8325G>A c.985G>A (p.Glu329Lys) c.992G>A (n.992G>A) c.841G>A (p.Glu281Lys) c.949G>A (p.Glu317Lys) c.39G>A (n.39G>A) c.904G>A (p.Glu302Lys)
17	g.6425595T>A	CA497687372	AIPL1	c.1020A>T (p.Thr340=) c.831A>T (p.Thr277=) c.892A>T (n.892A>T) c.954A>T (p.Thr318=) c.251+8324A>T c.984A>T (p.Thr328=) c.991A>T (n.991A>T) c.840A>T (p.Thr280=) c.948A>T (p.Thr316=) c.38A>T (n.38A>T) c.903A>T (p.Thr301=)
17	g.6425595T>C	CA497687370	AIPL1	c.1020A>G (p.Thr340=) c.831A>G (p.Thr277=) c.892A>G (n.892A>G) c.954A>G (p.Thr318=) c.251+8324A>G c.984A>G (p.Thr328=) c.991A>G (n.991A>G) c.840A>G (p.Thr280=) c.948A>G (p.Thr316=) c.38A>G (n.38A>G) c.903A>G (p.Thr301=)
17	g.6425595T>G	CA497687371	AIPL1	c.1020A>C (p.Thr340=) c.831A>C (p.Thr277=) c.892A>C (n.892A>C) c.954A>C (p.Thr318=) c.251+8324A>C c.984A>C (p.Thr328=) c.991A>C (n.991A>C) c.840A>C (p.Thr280=) c.948A>C (p.Thr316=) c.38A>C (n.38A>C) c.903A>C (p.Thr301=)
17	g.6425596G>A	CA397394419	AIPL1	c.1019C>T (p.Thr340Ile) c.830C>T (p.Thr277Ile) c.891C>T (n.891C>T) c.953C>T (p.Thr318Ile) c.251+8323C>T c.983C>T (p.Thr328Ile) c.990C>T (n.990C>T) c.839C>T (p.Thr280Ile) c.947C>T (p.Thr316Ile) c.37C>T (n.37C>T) c.902C>T (p.Thr301Ile)
17	g.6425596G>C	CA397394420	AIPL1	c.1019C>G (p.Thr340Arg) c.830C>G (p.Thr277Arg) c.891C>G (n.891C>G) c.953C>G (p.Thr318Arg) c.251+8323C>G c.983C>G (p.Thr328Arg) c.990C>G (n.990C>G) c.839C>G (p.Thr280Arg) c.947C>G (p.Thr316Arg) c.37C>G (n.37C>G) c.902C>G (p.Thr301Arg)
17	g.6425596G=	CA2245346764	AIPL1	c.1019C= (p.Thr340=) c.830C= (p.Thr277=) c.891C= (n.891C=) c.953C= (p.Thr318=) c.251+8323C= c.983C= (p.Thr328=) c.990C= (n.990C=) c.839C= (p.Thr280=) c.947C= (p.Thr316=) c.37C= (n.37C=) c.902C= (p.Thr301=)
17	g.6425596G>T	CA8328329	AIPL1	c.1019C>A (p.Thr340Lys) c.830C>A (p.Thr277Lys) c.891C>A (n.891C>A) c.953C>A (p.Thr318Lys) c.251+8323C>A c.983C>A (p.Thr328Lys) c.990C>A (n.990C>A) c.839C>A (p.Thr280Lys) c.947C>A (p.Thr316Lys) c.37C>A (n.37C>A) c.902C>A (p.Thr301Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.6425597T>A	CA397394421	AIPL1	c.1018A>T (p.Thr340Ser) c.829A>T (p.Thr277Ser) c.890A>T (n.890A>T) c.952A>T (p.Thr318Ser) c.251+8322A>T c.982A>T (p.Thr328Ser) c.989A>T (n.989A>T) c.838A>T (p.Thr280Ser) c.946A>T (p.Thr316Ser) c.36A>T (n.36A>T) c.901A>T (p.Thr301Ser)
17	g.6425597T>C	CA397394422	AIPL1	c.1018A>G (p.Thr340Ala) c.829A>G (p.Thr277Ala) c.890A>G (n.890A>G) c.952A>G (p.Thr318Ala) c.251+8322A>G c.982A>G (p.Thr328Ala) c.989A>G (n.989A>G) c.838A>G (p.Thr280Ala) c.946A>G (p.Thr316Ala) c.36A>G (n.36A>G) c.901A>G (p.Thr301Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.6425597T>G	CA397394423	AIPL1	c.1018A>C (p.Thr340Pro) c.829A>C (p.Thr277Pro) c.890A>C (n.890A>C) c.952A>C (p.Thr318Pro) c.251+8322A>C c.982A>C (p.Thr328Pro) c.989A>C (n.989A>C) c.838A>C (p.Thr280Pro) c.946A>C (p.Thr316Pro) c.36A>C (n.36A>C) c.901A>C (p.Thr301Pro)
17	g.6425597T=	CA2245346769	AIPL1	c.1018A= (p.Thr340=) c.829A= (p.Thr277=) c.890A= (n.890A=) c.952A= (p.Thr318=) c.251+8322A= c.982A= (p.Thr328=) c.989A= (n.989A=) c.838A= (p.Thr280=) c.946A= (p.Thr316=) c.36A= (n.36A=) c.901A= (p.Thr301=)
17	g.6425597_6425609delinsTGGGTGGCTCTGC	CA2245346768	AIPL1	c.1006_1018delinsGCAGAGCCACCCA (p.Ala336=) c.817_829delinsGCAGAGCCACCCA (p.Ala273=) c.878_890delinsGCAGAGCCACCCA (n.878_890delinsGCAGAGCCACCCA) c.940_952delinsGCAGAGCCACCCA (p.Ala314=) c.251+8310_251+8322delinsGCAGAGCCACCCA c.970_982delinsGCAGAGCCACCCA (p.Ala324=) c.977_989delinsGCAGAGCCACCCA (n.977_989delinsGCAGAGCCACCCA) c.826_838delinsGCAGAGCCACCCA (p.Ala276=) c.934_946delinsGCAGAGCCACCCA (p.Ala312=) c.24_36delinsGCAGAGCCACCCA (n.24_36delinsGCAGAGCCACCCA) c.889_901delinsGCAGAGCCACCCA (p.Ala297=)
17	g.6425598G>A	CA497687373	AIPL1	c.1017C>T (p.Pro339=) c.828C>T (p.Pro276=) c.889C>T (n.889C>T) c.951C>T (p.Pro317=) c.251+8321C>T c.981C>T (p.Pro327=) c.988C>T (n.988C>T) c.837C>T (p.Pro279=) c.945C>T (p.Pro315=) c.35C>T (n.35C>T) c.900C>T (p.Pro300=)	gnomAD v4
17	g.6425598G>C	CA497687374	AIPL1	c.1017C>G (p.Pro339=) c.828C>G (p.Pro276=) c.889C>G (n.889C>G) c.951C>G (p.Pro317=) c.251+8321C>G c.981C>G (p.Pro327=) c.988C>G (n.988C>G) c.837C>G (p.Pro279=) c.945C>G (p.Pro315=) c.35C>G (n.35C>G) c.900C>G (p.Pro300=)
17	g.6425598G>T	CA497687375	AIPL1	c.1017C>A (p.Pro339=) c.828C>A (p.Pro276=) c.889C>A (n.889C>A) c.951C>A (p.Pro317=) c.251+8321C>A c.981C>A (p.Pro327=) c.988C>A (n.988C>A) c.837C>A (p.Pro279=) c.945C>A (p.Pro315=) c.35C>A (n.35C>A) c.900C>A (p.Pro300=)	gnomAD v4
17	g.6425601_6425612dup	CA624859141	AIPL1	c.1006_1017dup (p.Pro339_Thr340insAlaGluProPro) c.817_828dup (p.Pro276_Thr277insAlaGluProPro) c.878_889dup (n.878_889dup) c.940_951dup (p.Pro317_Thr318insAlaGluProPro) c.251+8310_251+8321dup c.970_981dup (p.Pro327_Thr328insAlaGluProPro) c.977_988dup (n.977_988dup) c.826_837dup (p.Pro279_Thr280insAlaGluProPro) c.934_945dup (p.Pro315_Thr316insAlaGluProPro) c.24_35dup (n.24_35dup) c.889_900dup (p.Pro300_Thr301insAlaGluProPro)	dbSNP gnomAD v2 gnomAD v4
17	g.6425601_6425612del	CA8328330	AIPL1	c.1006_1017del (p.Ala336_Pro339del) c.817_828del (p.Ala273_Pro276del) c.878_889del (n.878_889del) c.940_951del (p.Ala314_Pro317del) c.251+8310_251+8321del c.970_981del (p.Ala324_Pro327del) c.977_988del (n.977_988del) c.826_837del (p.Ala276_Pro279del) c.934_945del (p.Ala312_Pro315del) c.24_35del (n.24_35del) c.889_900del (p.Ala297_Pro300del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.6425599G>A	CA397394424	AIPL1	c.1016C>T (p.Pro339Leu) c.827C>T (p.Pro276Leu) c.888C>T (n.888C>T) c.950C>T (p.Pro317Leu) c.251+8320C>T c.980C>T (p.Pro327Leu) c.987C>T (n.987C>T) c.836C>T (p.Pro279Leu) c.944C>T (p.Pro315Leu) c.34C>T (n.34C>T) c.899C>T (p.Pro300Leu)	gnomAD v4
17	g.6425599G>C	CA397394425	AIPL1	c.1016C>G (p.Pro339Arg) c.827C>G (p.Pro276Arg) c.888C>G (n.888C>G) c.950C>G (p.Pro317Arg) c.251+8320C>G c.980C>G (p.Pro327Arg) c.987C>G (n.987C>G) c.836C>G (p.Pro279Arg) c.944C>G (p.Pro315Arg) c.34C>G (n.34C>G) c.899C>G (p.Pro300Arg)
17	g.6425599G=	CA2245346773	AIPL1	c.1016C= (p.Pro339=) c.827C= (p.Pro276=) c.888C= (n.888C=) c.950C= (p.Pro317=) c.251+8320C= c.980C= (p.Pro327=) c.987C= (n.987C=) c.836C= (p.Pro279=) c.944C= (p.Pro315=) c.34C= (n.34C=) c.899C= (p.Pro300=)
17	g.6425599G>T	CA397394426	AIPL1	c.1016C>A (p.Pro339His) c.827C>A (p.Pro276His) c.888C>A (n.888C>A) c.950C>A (p.Pro317His) c.251+8320C>A c.980C>A (p.Pro327His) c.987C>A (n.987C>A) c.836C>A (p.Pro279His) c.944C>A (p.Pro315His) c.34C>A (n.34C>A) c.899C>A (p.Pro300His)	dbSNP
17	g.6425600G>A	CA397394428	AIPL1	c.1015C>T (p.Pro339Ser) c.826C>T (p.Pro276Ser) c.887C>T (n.887C>T) c.949C>T (p.Pro317Ser) c.251+8319C>T c.979C>T (p.Pro327Ser) c.986C>T (n.986C>T) c.835C>T (p.Pro279Ser) c.943C>T (p.Pro315Ser) c.33C>T (n.33C>T) c.898C>T (p.Pro300Ser)	dbSNP gnomAD v2
17	g.6425600G>C	CA397394429	AIPL1	c.1015C>G (p.Pro339Ala) c.826C>G (p.Pro276Ala) c.887C>G (n.887C>G) c.949C>G (p.Pro317Ala) c.251+8319C>G c.979C>G (p.Pro327Ala) c.986C>G (n.986C>G) c.835C>G (p.Pro279Ala) c.943C>G (p.Pro315Ala) c.33C>G (n.33C>G) c.898C>G (p.Pro300Ala)
17	g.6425600G=	CA2245346777	AIPL1	c.1015C= (p.Pro339=) c.826C= (p.Pro276=) c.887C= (n.887C=) c.949C= (p.Pro317=) c.251+8319C= c.979C= (p.Pro327=) c.986C= (n.986C=) c.835C= (p.Pro279=) c.943C= (p.Pro315=) c.33C= (n.33C=) c.898C= (p.Pro300=)
17	g.6425600G>T	CA397394427	AIPL1	c.1015C>A (p.Pro339Thr) c.826C>A (p.Pro276Thr) c.887C>A (n.887C>A) c.949C>A (p.Pro317Thr) c.251+8319C>A c.979C>A (p.Pro327Thr) c.986C>A (n.986C>A) c.835C>A (p.Pro279Thr) c.943C>A (p.Pro315Thr) c.33C>A (n.33C>A) c.898C>A (p.Pro300Thr)
17	g.6425601T>A	CA497687376	AIPL1	c.1014A>T (p.Pro338=) c.825A>T (p.Pro275=) c.886A>T (n.886A>T) c.948A>T (p.Pro316=) c.251+8318A>T c.978A>T (p.Pro326=) c.985A>T (n.985A>T) c.834A>T (p.Pro278=) c.942A>T (p.Pro314=) c.32A>T (n.32A>T) c.897A>T (p.Pro299=)
17	g.6425601T>C	CA497687377	AIPL1	c.1014A>G (p.Pro338=) c.825A>G (p.Pro275=) c.886A>G (n.886A>G) c.948A>G (p.Pro316=) c.251+8318A>G c.978A>G (p.Pro326=) c.985A>G (n.985A>G) c.834A>G (p.Pro278=) c.942A>G (p.Pro314=) c.32A>G (n.32A>G) c.897A>G (p.Pro299=)	gnomAD v4
17	g.6425601T>G	CA497687378	AIPL1	c.1014A>C (p.Pro338=) c.825A>C (p.Pro275=) c.886A>C (n.886A>C) c.948A>C (p.Pro316=) c.251+8318A>C c.978A>C (p.Pro326=) c.985A>C (n.985A>C) c.834A>C (p.Pro278=) c.942A>C (p.Pro314=) c.32A>C (n.32A>C) c.897A>C (p.Pro299=)
17	g.6425602G>A	CA397394432	AIPL1	c.1013C>T (p.Pro338Leu) c.824C>T (p.Pro275Leu) c.885C>T (n.885C>T) c.947C>T (p.Pro316Leu) c.251+8317C>T c.977C>T (p.Pro326Leu) c.984C>T (n.984C>T) c.833C>T (p.Pro278Leu) c.941C>T (p.Pro314Leu) c.31C>T (n.31C>T) c.896C>T (p.Pro299Leu)
17	g.6425602G>C	CA397394430	AIPL1	c.1013C>G (p.Pro338Arg) c.824C>G (p.Pro275Arg) c.885C>G (n.885C>G) c.947C>G (p.Pro316Arg) c.251+8317C>G c.977C>G (p.Pro326Arg) c.984C>G (n.984C>G) c.833C>G (p.Pro278Arg) c.941C>G (p.Pro314Arg) c.31C>G (n.31C>G) c.896C>G (p.Pro299Arg)
17	g.6425602G>T	CA397394431	AIPL1	c.1013C>A (p.Pro338Gln) c.824C>A (p.Pro275Gln) c.885C>A (n.885C>A) c.947C>A (p.Pro316Gln) c.251+8317C>A c.977C>A (p.Pro326Gln) c.984C>A (n.984C>A) c.833C>A (p.Pro278Gln) c.941C>A (p.Pro314Gln) c.31C>A (n.31C>A) c.896C>A (p.Pro299Gln)	gnomAD v4
17	g.6425603G>A	CA397394433	AIPL1	c.1012C>T (p.Pro338Ser) c.823C>T (p.Pro275Ser) c.884C>T (n.884C>T) c.946C>T (p.Pro316Ser) c.251+8316C>T c.976C>T (p.Pro326Ser) c.983C>T (n.983C>T) c.832C>T (p.Pro278Ser) c.940C>T (p.Pro314Ser) c.30C>T (n.30C>T) c.895C>T (p.Pro299Ser)	gnomAD v4
17	g.6425603G>C	CA397394434	AIPL1	c.1012C>G (p.Pro338Ala) c.823C>G (p.Pro275Ala) c.884C>G (n.884C>G) c.946C>G (p.Pro316Ala) c.251+8316C>G c.976C>G (p.Pro326Ala) c.983C>G (n.983C>G) c.832C>G (p.Pro278Ala) c.940C>G (p.Pro314Ala) c.30C>G (n.30C>G) c.895C>G (p.Pro299Ala)	dbSNP
17	g.6425603G=	CA2245346781	AIPL1	c.1012C= (p.Pro338=) c.823C= (p.Pro275=) c.884C= (n.884C=) c.946C= (p.Pro316=) c.251+8316C= c.976C= (p.Pro326=) c.983C= (n.983C=) c.832C= (p.Pro278=) c.940C= (p.Pro314=) c.30C= (n.30C=) c.895C= (p.Pro299=)
17	g.6425603G>T	CA8328331	AIPL1	c.1012C>A (p.Pro338Thr) c.823C>A (p.Pro275Thr) c.884C>A (n.884C>A) c.946C>A (p.Pro316Thr) c.251+8316C>A c.976C>A (p.Pro326Thr) c.983C>A (n.983C>A) c.832C>A (p.Pro278Thr) c.940C>A (p.Pro314Thr) c.30C>A (n.30C>A) c.895C>A (p.Pro299Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.6425603_6425605delinsGCT	CA2245346779	AIPL1	c.1010_1012delinsAGC (p.Glu337=) c.821_823delinsAGC (p.Glu274=) c.882_884delinsAGC (n.882_884delinsAGC) c.944_946delinsAGC (p.Glu315=) c.251+8314_251+8316delinsAGC c.974_976delinsAGC (p.Glu325=) c.981_983delinsAGC (n.981_983delinsAGC) c.830_832delinsAGC (p.Glu277=) c.938_940delinsAGC (p.Glu313=) c.28_30delinsAGC (n.28_30delinsAGC) c.893_895delinsAGC (p.Glu298=)
17	g.6425604C>A	CA397394435	AIPL1	c.1011G>T (p.Glu337Asp) c.822G>T (p.Glu274Asp) c.883G>T (n.883G>T) c.945G>T (p.Glu315Asp) c.251+8315G>T c.975G>T (p.Glu325Asp) c.982G>T (n.982G>T) c.831G>T (p.Glu277Asp) c.939G>T (p.Glu313Asp) c.29G>T (n.29G>T) c.894G>T (p.Glu298Asp)
17	g.6425604C>G	CA397394436	AIPL1	c.1011G>C (p.Glu337Asp) c.822G>C (p.Glu274Asp) c.883G>C (n.883G>C) c.945G>C (p.Glu315Asp) c.251+8315G>C c.975G>C (p.Glu325Asp) c.982G>C (n.982G>C) c.831G>C (p.Glu277Asp) c.939G>C (p.Glu313Asp) c.29G>C (n.29G>C) c.894G>C (p.Glu298Asp)
17	g.6425604C>T	CA497687379	AIPL1	c.1011G>A (p.Glu337=) c.822G>A (p.Glu274=) c.883G>A (n.883G>A) c.945G>A (p.Glu315=) c.251+8315G>A c.975G>A (p.Glu325=) c.982G>A (n.982G>A) c.831G>A (p.Glu277=) c.939G>A (p.Glu313=) c.29G>A (n.29G>A) c.894G>A (p.Glu298=)
17	g.6425606_6425607del	CA227863	AIPL1	c.1010_1011del (p.Glu337AlafsTer?) c.821_822del (p.Glu274AlafsTer?) c.882_883del (n.882_883del) c.944_945del (p.Glu315AlafsTer?) c.251+8314_251+8315del c.974_975del (p.Glu325AlafsTer?) c.981_982del (n.981_982del) c.830_831del (p.Glu277AlafsTer?) c.938_939del (p.Glu313AlafsTer?) c.28_29del (n.28_29del) c.893_894del (p.Glu298AlafsTer?)	ClinVar dbSNP
17	g.6425605T>A	CA397394437	AIPL1	c.1010A>T (p.Glu337Val) c.821A>T (p.Glu274Val) c.882A>T (n.882A>T) c.944A>T (p.Glu315Val) c.251+8314A>T c.974A>T (p.Glu325Val) c.981A>T (n.981A>T) c.830A>T (p.Glu277Val) c.938A>T (p.Glu313Val) c.28A>T (n.28A>T) c.893A>T (p.Glu298Val)	dbSNP gnomAD v3 gnomAD v4
17	g.6425605T>C	CA397394438	AIPL1	c.1010A>G (p.Glu337Gly) c.821A>G (p.Glu274Gly) c.882A>G (n.882A>G) c.944A>G (p.Glu315Gly) c.251+8314A>G c.974A>G (p.Glu325Gly) c.981A>G (n.981A>G) c.830A>G (p.Glu277Gly) c.938A>G (p.Glu313Gly) c.28A>G (n.28A>G) c.893A>G (p.Glu298Gly)
17	g.6425605T>G	CA397394439	AIPL1	c.1010A>C (p.Glu337Ala) c.821A>C (p.Glu274Ala) c.882A>C (n.882A>C) c.944A>C (p.Glu315Ala) c.251+8314A>C c.974A>C (p.Glu325Ala) c.981A>C (n.981A>C) c.830A>C (p.Glu277Ala) c.938A>C (p.Glu313Ala) c.28A>C (n.28A>C) c.893A>C (p.Glu298Ala)
17	g.6425605T=	CA2245346789	AIPL1	c.1010A= (p.Glu337=) c.821A= (p.Glu274=) c.882A= (n.882A=) c.944A= (p.Glu315=) c.251+8314A= c.974A= (p.Glu325=) c.981A= (n.981A=) c.830A= (p.Glu277=) c.938A= (p.Glu313=) c.28A= (n.28A=) c.893A= (p.Glu298=)
17	g.6425606C>A	CA397394441	AIPL1	c.1009G>T (p.Glu337Ter) c.820G>T (p.Glu274Ter) c.881G>T (n.881G>T) c.943G>T (p.Glu315Ter) c.251+8313G>T c.973G>T (p.Glu325Ter) c.980G>T (n.980G>T) c.829G>T (p.Glu277Ter) c.937G>T (p.Glu313Ter) c.27G>T (n.27G>T) c.892G>T (p.Glu298Ter)
17	g.6425606C=	CA2245346793	AIPL1	c.1009G= (p.Glu337=) c.820G= (p.Glu274=) c.881G= (n.881G=) c.943G= (p.Glu315=) c.251+8313G= c.973G= (p.Glu325=) c.980G= (n.980G=) c.829G= (p.Glu277=) c.937G= (p.Glu313=) c.27G= (n.27G=) c.892G= (p.Glu298=)
17	g.6425606C>G	CA8328332	AIPL1	c.1009G>C (p.Glu337Gln) c.820G>C (p.Glu274Gln) c.881G>C (n.881G>C) c.943G>C (p.Glu315Gln) c.251+8313G>C c.973G>C (p.Glu325Gln) c.980G>C (n.980G>C) c.829G>C (p.Glu277Gln) c.937G>C (p.Glu313Gln) c.27G>C (n.27G>C) c.892G>C (p.Glu298Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.6425606C>T	CA397394440	AIPL1	c.1009G>A (p.Glu337Lys) c.820G>A (p.Glu274Lys) c.881G>A (n.881G>A) c.943G>A (p.Glu315Lys) c.251+8313G>A c.973G>A (p.Glu325Lys) c.980G>A (n.980G>A) c.829G>A (p.Glu277Lys) c.937G>A (p.Glu313Lys) c.27G>A (n.27G>A) c.892G>A (p.Glu298Lys)
17	g.6425607T>A	CA497687380	AIPL1	c.1008A>T (p.Ala336=) c.819A>T (p.Ala273=) c.880A>T (n.880A>T) c.942A>T (p.Ala314=) c.251+8312A>T c.972A>T (p.Ala324=) c.979A>T (n.979A>T) c.828A>T (p.Ala276=) c.936A>T (p.Ala312=) c.26A>T (n.26A>T) c.891A>T (p.Ala297=)
17	g.6425607T>C	CA497687381	AIPL1	c.1008A>G (p.Ala336=) c.819A>G (p.Ala273=) c.880A>G (n.880A>G) c.942A>G (p.Ala314=) c.251+8312A>G c.972A>G (p.Ala324=) c.979A>G (n.979A>G) c.828A>G (p.Ala276=) c.936A>G (p.Ala312=) c.26A>G (n.26A>G) c.891A>G (p.Ala297=)
17	g.6425607T>G	CA497687382	AIPL1	c.1008A>C (p.Ala336=) c.819A>C (p.Ala273=) c.880A>C (n.880A>C) c.942A>C (p.Ala314=) c.251+8312A>C c.972A>C (p.Ala324=) c.979A>C (n.979A>C) c.828A>C (p.Ala276=) c.936A>C (p.Ala312=) c.26A>C (n.26A>C) c.891A>C (p.Ala297=)
17	g.6425608G>A	CA397394442	AIPL1	c.1007C>T (p.Ala336Val) c.818C>T (p.Ala273Val) c.879C>T (n.879C>T) c.941C>T (p.Ala314Val) c.251+8311C>T c.971C>T (p.Ala324Val) c.978C>T (n.978C>T) c.827C>T (p.Ala276Val) c.935C>T (p.Ala312Val) c.25C>T (n.25C>T) c.890C>T (p.Ala297Val)
17	g.6425608G>C	CA397394443	AIPL1	c.1007C>G (p.Ala336Gly) c.818C>G (p.Ala273Gly) c.879C>G (n.879C>G) c.941C>G (p.Ala314Gly) c.251+8311C>G c.971C>G (p.Ala324Gly) c.978C>G (n.978C>G) c.827C>G (p.Ala276Gly) c.935C>G (p.Ala312Gly) c.25C>G (n.25C>G) c.890C>G (p.Ala297Gly)
17	g.6425608G>T	CA397394444	AIPL1	c.1007C>A (p.Ala336Glu) c.818C>A (p.Ala273Glu) c.879C>A (n.879C>A) c.941C>A (p.Ala314Glu) c.251+8311C>A c.971C>A (p.Ala324Glu) c.978C>A (n.978C>A) c.827C>A (p.Ala276Glu) c.935C>A (p.Ala312Glu) c.25C>A (n.25C>A) c.890C>A (p.Ala297Glu)
17	g.6425609C>A	CA397394445	AIPL1	c.1006G>T (p.Ala336Ser) c.817G>T (p.Ala273Ser) c.878G>T (n.878G>T) c.940G>T (p.Ala314Ser) c.251+8310G>T c.970G>T (p.Ala324Ser) c.977G>T (n.977G>T) c.826G>T (p.Ala276Ser) c.934G>T (p.Ala312Ser) c.24G>T (n.24G>T) c.889G>T (p.Ala297Ser)
17	g.6425609C=	CA2245346796	AIPL1	c.1006G= (p.Ala336=) c.817G= (p.Ala273=) c.878G= (n.878G=) c.940G= (p.Ala314=) c.251+8310G= c.970G= (p.Ala324=) c.977G= (n.977G=) c.826G= (p.Ala276=) c.934G= (p.Ala312=) c.24G= (n.24G=) c.889G= (p.Ala297=)
17	g.6425609C>G	CA397394446	AIPL1	c.1006G>C (p.Ala336Pro) c.817G>C (p.Ala273Pro) c.878G>C (n.878G>C) c.940G>C (p.Ala314Pro) c.251+8310G>C c.970G>C (p.Ala324Pro) c.977G>C (n.977G>C) c.826G>C (p.Ala276Pro) c.934G>C (p.Ala312Pro) c.24G>C (n.24G>C) c.889G>C (p.Ala297Pro)
17	g.6425609C>T	CA233457	AIPL1	c.1006G>A (p.Ala336Thr) c.817G>A (p.Ala273Thr) c.878G>A (n.878G>A) c.940G>A (p.Ala314Thr) c.251+8310G>A c.970G>A (p.Ala324Thr) c.977G>A (n.977G>A) c.826G>A (p.Ala276Thr) c.934G>A (p.Ala312Thr) c.24G>A (n.24G>A) c.889G>A (p.Ala297Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.6425609_6425610delinsCG	CA2245346801	AIPL1	c.1005_1006delinsCG (p.Pro335=) c.816_817delinsCG (p.Pro272=) c.877_878delinsCG (n.877_878delinsCG) c.939_940delinsCG (p.Pro313=) c.251+8309_251+8310delinsCG c.969_970delinsCG (p.Pro323=) c.976_977delinsCG (n.976_977delinsCG) c.825_826delinsCG (p.Pro275=) c.933_934delinsCG (p.Pro311=) c.23_24delinsCG (n.23_24delinsCG) c.888_889delinsCG (p.Pro296=)
17	g.6425610G>A	CA8328333	AIPL1	c.1005C>T (p.Pro335=) c.816C>T (p.Pro272=) c.877C>T (n.877C>T) c.939C>T (p.Pro313=) c.251+8309C>T c.969C>T (p.Pro323=) c.976C>T (n.976C>T) c.825C>T (p.Pro275=) c.933C>T (p.Pro311=) c.23C>T (n.23C>T) c.888C>T (p.Pro296=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.6425610G>C	CA497687383	AIPL1	c.1005C>G (p.Pro335=) c.816C>G (p.Pro272=) c.877C>G (n.877C>G) c.939C>G (p.Pro313=) c.251+8309C>G c.969C>G (p.Pro323=) c.976C>G (n.976C>G) c.825C>G (p.Pro275=) c.933C>G (p.Pro311=) c.23C>G (n.23C>G) c.888C>G (p.Pro296=)
17	g.6425610G=	CA2245346805	AIPL1	c.1005C= (p.Pro335=) c.816C= (p.Pro272=) c.877C= (n.877C=) c.939C= (p.Pro313=) c.251+8309C= c.969C= (p.Pro323=) c.976C= (n.976C=) c.825C= (p.Pro275=) c.933C= (p.Pro311=) c.23C= (n.23C=) c.888C= (p.Pro296=)
17	g.6425610G>T	CA497687384	AIPL1	c.1005C>A (p.Pro335=) c.816C>A (p.Pro272=) c.877C>A (n.877C>A) c.939C>A (p.Pro313=) c.251+8309C>A c.969C>A (p.Pro323=) c.976C>A (n.976C>A) c.825C>A (p.Pro275=) c.933C>A (p.Pro311=) c.23C>A (n.23C>A) c.888C>A (p.Pro296=)	gnomAD v4
17	g.6425612del	CA774024786	AIPL1	c.1005del (p.Ala336GlnfsTer?) c.816del (p.Ala273GlnfsTer?) c.877del (n.877del) c.939del (p.Ala314GlnfsTer?) c.251+8309del c.969del (p.Ala324GlnfsTer?) c.976del (n.976del) c.825del (p.Ala276GlnfsTer?) c.933del (p.Ala312GlnfsTer?) c.23del (n.23del) c.888del (p.Ala297GlnfsTer?)	ClinVar dbSNP
17	g.6425611G>A	CA397394447	AIPL1	c.1004C>T (p.Pro335Leu) c.815C>T (p.Pro272Leu) c.876C>T (n.876C>T) c.938C>T (p.Pro313Leu) c.251+8308C>T c.968C>T (p.Pro323Leu) c.975C>T (n.975C>T) c.824C>T (p.Pro275Leu) c.932C>T (p.Pro311Leu) c.22C>T (n.22C>T) c.887C>T (p.Pro296Leu)	ClinVar
17	g.6425611G>C	CA397394448	AIPL1	c.1004C>G (p.Pro335Arg) c.815C>G (p.Pro272Arg) c.876C>G (n.876C>G) c.938C>G (p.Pro313Arg) c.251+8308C>G c.968C>G (p.Pro323Arg) c.975C>G (n.975C>G) c.824C>G (p.Pro275Arg) c.932C>G (p.Pro311Arg) c.22C>G (n.22C>G) c.887C>G (p.Pro296Arg)
17	g.6425611G=	CA2245346811	AIPL1	c.1004C= (p.Pro335=) c.815C= (p.Pro272=) c.876C= (n.876C=) c.938C= (p.Pro313=) c.251+8308C= c.968C= (p.Pro323=) c.975C= (n.975C=) c.824C= (p.Pro275=) c.932C= (p.Pro311=) c.22C= (n.22C=) c.887C= (p.Pro296=)
17	g.6425611G>T	CA279223	AIPL1	c.1004C>A (p.Pro335His) c.815C>A (p.Pro272His) c.876C>A (n.876C>A) c.938C>A (p.Pro313His) c.251+8308C>A c.968C>A (p.Pro323His) c.975C>A (n.975C>A) c.824C>A (p.Pro275His) c.932C>A (p.Pro311His) c.22C>A (n.22C>A) c.887C>A (p.Pro296His)	ClinVar dbSNP
17	g.6425612G>A	CA397394449	AIPL1	c.1003C>T (p.Pro335Ser) c.814C>T (p.Pro272Ser) c.875C>T (n.875C>T) c.937C>T (p.Pro313Ser) c.251+8307C>T c.967C>T (p.Pro323Ser) c.974C>T (n.974C>T) c.823C>T (p.Pro275Ser) c.931C>T (p.Pro311Ser) c.21C>T (n.21C>T) c.886C>T (p.Pro296Ser)	dbSNP
17	g.6425612G>C	CA397394450	AIPL1	c.1003C>G (p.Pro335Ala) c.814C>G (p.Pro272Ala) c.875C>G (n.875C>G) c.937C>G (p.Pro313Ala) c.251+8307C>G c.967C>G (p.Pro323Ala) c.974C>G (n.974C>G) c.823C>G (p.Pro275Ala) c.931C>G (p.Pro311Ala) c.21C>G (n.21C>G) c.886C>G (p.Pro296Ala)
17	g.6425612G=	CA2245346815	AIPL1	c.1003C= (p.Pro335=) c.814C= (p.Pro272=) c.875C= (n.875C=) c.937C= (p.Pro313=) c.251+8307C= c.967C= (p.Pro323=) c.974C= (n.974C=) c.823C= (p.Pro275=) c.931C= (p.Pro311=) c.21C= (n.21C=) c.886C= (p.Pro296=)
17	g.6425612G>T	CA397394451	AIPL1	c.1003C>A (p.Pro335Thr) c.814C>A (p.Pro272Thr) c.875C>A (n.875C>A) c.937C>A (p.Pro313Thr) c.251+8307C>A c.967C>A (p.Pro323Thr) c.974C>A (n.974C>A) c.823C>A (p.Pro275Thr) c.931C>A (p.Pro311Thr) c.21C>A (n.21C>A) c.886C>A (p.Pro296Thr)	gnomAD v4
17	g.6425613A>C	CA497687386	AIPL1	c.1002T>G (p.Pro334=) c.813T>G (p.Pro271=) c.874T>G (n.874T>G) c.936T>G (p.Pro312=) c.251+8306T>G c.966T>G (p.Pro322=) c.973T>G (n.973T>G) c.822T>G (p.Pro274=) c.930T>G (p.Pro310=) c.20T>G (n.20T>G) c.885T>G (p.Pro295=)	ClinVar gnomAD v4
17	g.6425613A>G	CA497687388	AIPL1	c.1002T>C (p.Pro334=) c.813T>C (p.Pro271=) c.874T>C (n.874T>C) c.936T>C (p.Pro312=) c.251+8306T>C c.966T>C (p.Pro322=) c.973T>C (n.973T>C) c.822T>C (p.Pro274=) c.930T>C (p.Pro310=) c.20T>C (n.20T>C) c.885T>C (p.Pro295=)
17	g.6425613A>T	CA497687391	AIPL1	c.1002T>A (p.Pro334=) c.813T>A (p.Pro271=) c.874T>A (n.874T>A) c.936T>A (p.Pro312=) c.251+8306T>A c.966T>A (p.Pro322=) c.973T>A (n.973T>A) c.822T>A (p.Pro274=) c.930T>A (p.Pro310=) c.20T>A (n.20T>A) c.885T>A (p.Pro295=)
17	g.6425614G>A	CA397394453	AIPL1	c.1001C>T (p.Pro334Leu) c.812C>T (p.Pro271Leu) c.873C>T (n.873C>T) c.935C>T (p.Pro312Leu) c.251+8305C>T c.965C>T (p.Pro322Leu) c.972C>T (n.972C>T) c.821C>T (p.Pro274Leu) c.929C>T (p.Pro310Leu) c.19C>T (n.19C>T) c.884C>T (p.Pro295Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.6425614G>C	CA397394454	AIPL1	c.1001C>G (p.Pro334Arg) c.812C>G (p.Pro271Arg) c.873C>G (n.873C>G) c.935C>G (p.Pro312Arg) c.251+8305C>G c.965C>G (p.Pro322Arg) c.972C>G (n.972C>G) c.821C>G (p.Pro274Arg) c.929C>G (p.Pro310Arg) c.19C>G (n.19C>G) c.884C>G (p.Pro295Arg)
17	g.6425614G=	CA2245346818	AIPL1	c.1001C= (p.Pro334=) c.812C= (p.Pro271=) c.873C= (n.873C=) c.935C= (p.Pro312=) c.251+8305C= c.965C= (p.Pro322=) c.972C= (n.972C=) c.821C= (p.Pro274=) c.929C= (p.Pro310=) c.19C= (n.19C=) c.884C= (p.Pro295=)
17	g.6425614G>T	CA397394452	AIPL1	c.1001C>A (p.Pro334His) c.812C>A (p.Pro271His) c.873C>A (n.873C>A) c.935C>A (p.Pro312His) c.251+8305C>A c.965C>A (p.Pro322His) c.972C>A (n.972C>A) c.821C>A (p.Pro274His) c.929C>A (p.Pro310His) c.19C>A (n.19C>A) c.884C>A (p.Pro295His)
17	g.6425614_6425623del	CA2808334464	AIPL1	c.992_1001del (p.Ala331ValfsTer?) c.803_812del (p.Ala268ValfsTer?) c.864_873del (n.864_873del) c.926_935del (p.Ala309ValfsTer?) c.251+8296_251+8305del c.956_965del (p.Ala319ValfsTer?) c.963_972del (n.963_972del) c.812_821del (p.Ala271ValfsTer?) c.920_929del (p.Ala307ValfsTer?) c.10_19del (n.10_19del) c.875_884del (p.Ala292ValfsTer?)

Number of alleles fetched