| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6425461C>A | CA397394157 | AIPL1 | c.1154G>T (p.Ter385Leu) c.965G>T (p.Ter322Leu) c.*1026G>T (n.*1026G>T) c.1088G>T (p.Ter363Leu) c.251+8458G>T c.1118G>T (p.Ter373Leu) c.*1125G>T (n.*1125G>T) c.974G>T (p.Ter325Leu) c.1082G>T (p.Ter361Leu) c.*172G>T (n.*172G>T) c.1037G>T (p.Ter346Leu) | |
| 17 | g.6425461C= | CA2245346479 | AIPL1 | c.1154G= (p.Ter385=) c.965G= (p.Ter322=) c.*1026G= (n.*1026G=) c.1088G= (p.Ter363=) c.251+8458G= c.1118G= (p.Ter373=) c.*1125G= (n.*1125G=) c.974G= (p.Ter325=) c.1082G= (p.Ter361=) c.*172G= (n.*172G=) c.1037G= (p.Ter346=) | |
| 17 | g.6425461C>G | CA287323640 | AIPL1 | c.1154G>C (p.Ter385Ser) c.965G>C (p.Ter322Ser) c.*1026G>C (n.*1026G>C) c.1088G>C (p.Ter363Ser) c.251+8458G>C c.1118G>C (p.Ter373Ser) c.*1125G>C (n.*1125G>C) c.974G>C (p.Ter325Ser) c.1082G>C (p.Ter361Ser) c.*172G>C (n.*172G>C) c.1037G>C (p.Ter346Ser) | dbSNP gnomAD v4 |
| 17 | g.6425461C>T | CA497687257 | AIPL1 | c.1154G>A (p.Ter385=) c.965G>A (p.Ter322=) c.*1026G>A (n.*1026G>A) c.1088G>A (p.Ter363=) c.251+8458G>A c.1118G>A (p.Ter373=) c.*1125G>A (n.*1125G>A) c.974G>A (p.Ter325=) c.1082G>A (p.Ter361=) c.*172G>A (n.*172G>A) c.1037G>A (p.Ter346=) | gnomAD v4 |
| 17 | g.6425462A= | CA2245346481 | AIPL1 | c.1153T= (p.Ter385=) c.964T= (p.Ter322=) c.*1025T= (n.*1025T=) c.1087T= (p.Ter363=) c.251+8457T= c.1117T= (p.Ter373=) c.*1124T= (n.*1124T=) c.973T= (p.Ter325=) c.1081T= (p.Ter361=) c.*171T= (n.*171T=) c.1036T= (p.Ter346=) | |
| 17 | g.6425462A>C | CA397394160 | AIPL1 | c.1153T>G (p.Ter385Gly) c.964T>G (p.Ter322Gly) c.*1025T>G (n.*1025T>G) c.1087T>G (p.Ter363Gly) c.251+8457T>G c.1117T>G (p.Ter373Gly) c.*1124T>G (n.*1124T>G) c.973T>G (p.Ter325Gly) c.1081T>G (p.Ter361Gly) c.*171T>G (n.*171T>G) c.1036T>G (p.Ter346Gly) | |
| 17 | g.6425462A>G | CA397394159 | AIPL1 | c.1153T>C (p.Ter385Arg) c.964T>C (p.Ter322Arg) c.*1025T>C (n.*1025T>C) c.1087T>C (p.Ter363Arg) c.251+8457T>C c.1117T>C (p.Ter373Arg) c.*1124T>C (n.*1124T>C) c.973T>C (p.Ter325Arg) c.1081T>C (p.Ter361Arg) c.*171T>C (n.*171T>C) c.1036T>C (p.Ter346Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.6425462A>T | CA397394158 | AIPL1 | c.1153T>A (p.Ter385Arg) c.964T>A (p.Ter322Arg) c.*1025T>A (n.*1025T>A) c.1087T>A (p.Ter363Arg) c.251+8457T>A c.1117T>A (p.Ter373Arg) c.*1124T>A (n.*1124T>A) c.973T>A (p.Ter325Arg) c.1081T>A (p.Ter361Arg) c.*171T>A (n.*171T>A) c.1036T>A (p.Ter346Arg) | |
| 17 | g.6425463G>A | CA497687258 | AIPL1 | c.1152C>T (p.His384=) c.963C>T (p.His321=) c.*1024C>T (n.*1024C>T) c.1086C>T (p.His362=) c.251+8456C>T c.1116C>T (p.His372=) c.*1123C>T (n.*1123C>T) c.972C>T (p.His324=) c.1080C>T (p.His360=) c.*170C>T (n.*170C>T) c.1035C>T (p.His345=) | |
| 17 | g.6425463G>C | CA397394161 | AIPL1 | c.1152C>G (p.His384Gln) c.963C>G (p.His321Gln) c.*1024C>G (n.*1024C>G) c.1086C>G (p.His362Gln) c.251+8456C>G c.1116C>G (p.His372Gln) c.*1123C>G (n.*1123C>G) c.972C>G (p.His324Gln) c.1080C>G (p.His360Gln) c.*170C>G (n.*170C>G) c.1035C>G (p.His345Gln) | |
| 17 | g.6425463G>T | CA397394162 | AIPL1 | c.1152C>A (p.His384Gln) c.963C>A (p.His321Gln) c.*1024C>A (n.*1024C>A) c.1086C>A (p.His362Gln) c.251+8456C>A c.1116C>A (p.His372Gln) c.*1123C>A (n.*1123C>A) c.972C>A (p.His324Gln) c.1080C>A (p.His360Gln) c.*170C>A (n.*170C>A) c.1035C>A (p.His345Gln) | gnomAD v4 |
| 17 | g.6425464T>A | CA397394163 | AIPL1 | c.1151A>T (p.His384Leu) c.962A>T (p.His321Leu) c.*1023A>T (n.*1023A>T) c.1085A>T (p.His362Leu) c.251+8455A>T c.1115A>T (p.His372Leu) c.*1122A>T (n.*1122A>T) c.971A>T (p.His324Leu) c.1079A>T (p.His360Leu) c.*169A>T (n.*169A>T) c.1034A>T (p.His345Leu) | |
| 17 | g.6425464T>C | CA397394164 | AIPL1 | c.1151A>G (p.His384Arg) c.962A>G (p.His321Arg) c.*1023A>G (n.*1023A>G) c.1085A>G (p.His362Arg) c.251+8455A>G c.1115A>G (p.His372Arg) c.*1122A>G (n.*1122A>G) c.971A>G (p.His324Arg) c.1079A>G (p.His360Arg) c.*169A>G (n.*169A>G) c.1034A>G (p.His345Arg) | |
| 17 | g.6425464T>G | CA397394165 | AIPL1 | c.1151A>C (p.His384Pro) c.962A>C (p.His321Pro) c.*1023A>C (n.*1023A>C) c.1085A>C (p.His362Pro) c.251+8455A>C c.1115A>C (p.His372Pro) c.*1122A>C (n.*1122A>C) c.971A>C (p.His324Pro) c.1079A>C (p.His360Pro) c.*169A>C (n.*169A>C) c.1034A>C (p.His345Pro) | |
| 17 | g.6425465G>A | CA397394166 | AIPL1 | c.1150C>T (p.His384Tyr) c.961C>T (p.His321Tyr) c.*1022C>T (n.*1022C>T) c.1084C>T (p.His362Tyr) c.251+8454C>T c.1114C>T (p.His372Tyr) c.*1121C>T (n.*1121C>T) c.970C>T (p.His324Tyr) c.1078C>T (p.His360Tyr) c.*168C>T (n.*168C>T) c.1033C>T (p.His345Tyr) | |
| 17 | g.6425465G>C | CA397394167 | AIPL1 | c.1150C>G (p.His384Asp) c.961C>G (p.His321Asp) c.*1022C>G (n.*1022C>G) c.1084C>G (p.His362Asp) c.251+8454C>G c.1114C>G (p.His372Asp) c.*1121C>G (n.*1121C>G) c.970C>G (p.His324Asp) c.1078C>G (p.His360Asp) c.*168C>G (n.*168C>G) c.1033C>G (p.His345Asp) | |
| 17 | g.6425465G>T | CA397394168 | AIPL1 | c.1150C>A (p.His384Asn) c.961C>A (p.His321Asn) c.*1022C>A (n.*1022C>A) c.1084C>A (p.His362Asn) c.251+8454C>A c.1114C>A (p.His372Asn) c.*1121C>A (n.*1121C>A) c.970C>A (p.His324Asn) c.1078C>A (p.His360Asn) c.*168C>A (n.*168C>A) c.1033C>A (p.His345Asn) | gnomAD v4 |
| 17 | g.6425466C>A | CA397394169 | AIPL1 | c.1149G>T (p.Gln383His) c.960G>T (p.Gln320His) c.*1021G>T (n.*1021G>T) c.1083G>T (p.Gln361His) c.251+8453G>T c.1113G>T (p.Gln371His) c.*1120G>T (n.*1120G>T) c.969G>T (p.Gln323His) c.1077G>T (p.Gln359His) c.*167G>T (n.*167G>T) c.1032G>T (p.Gln344His) | gnomAD v4 |
| 17 | g.6425466C>G | CA397394170 | AIPL1 | c.1149G>C (p.Gln383His) c.960G>C (p.Gln320His) c.*1021G>C (n.*1021G>C) c.1083G>C (p.Gln361His) c.251+8453G>C c.1113G>C (p.Gln371His) c.*1120G>C (n.*1120G>C) c.969G>C (p.Gln323His) c.1077G>C (p.Gln359His) c.*167G>C (n.*167G>C) c.1032G>C (p.Gln344His) | |
| 17 | g.6425466C>T | CA497687261 | AIPL1 | c.1149G>A (p.Gln383=) c.960G>A (p.Gln320=) c.*1021G>A (n.*1021G>A) c.1083G>A (p.Gln361=) c.251+8453G>A c.1113G>A (p.Gln371=) c.*1120G>A (n.*1120G>A) c.969G>A (p.Gln323=) c.1077G>A (p.Gln359=) c.*167G>A (n.*167G>A) c.1032G>A (p.Gln344=) | |
| 17 | g.6425467T>A | CA397394171 | AIPL1 | c.1148A>T (p.Gln383Leu) c.959A>T (p.Gln320Leu) c.*1020A>T (n.*1020A>T) c.1082A>T (p.Gln361Leu) c.251+8452A>T c.1112A>T (p.Gln371Leu) c.*1119A>T (n.*1119A>T) c.968A>T (p.Gln323Leu) c.1076A>T (p.Gln359Leu) c.*166A>T (n.*166A>T) c.1031A>T (p.Gln344Leu) | |
| 17 | g.6425467T>C | CA397394172 | AIPL1 | c.1148A>G (p.Gln383Arg) c.959A>G (p.Gln320Arg) c.*1020A>G (n.*1020A>G) c.1082A>G (p.Gln361Arg) c.251+8452A>G c.1112A>G (p.Gln371Arg) c.*1119A>G (n.*1119A>G) c.968A>G (p.Gln323Arg) c.1076A>G (p.Gln359Arg) c.*166A>G (n.*166A>G) c.1031A>G (p.Gln344Arg) | |
| 17 | g.6425467T>G | CA397394173 | AIPL1 | c.1148A>C (p.Gln383Pro) c.959A>C (p.Gln320Pro) c.*1020A>C (n.*1020A>C) c.1082A>C (p.Gln361Pro) c.251+8452A>C c.1112A>C (p.Gln371Pro) c.*1119A>C (n.*1119A>C) c.968A>C (p.Gln323Pro) c.1076A>C (p.Gln359Pro) c.*166A>C (n.*166A>C) c.1031A>C (p.Gln344Pro) | |
| 17 | g.6425468G>A | CA397394175 | AIPL1 | c.1147C>T (p.Gln383Ter) c.958C>T (p.Gln320Ter) c.*1019C>T (n.*1019C>T) c.1081C>T (p.Gln361Ter) c.251+8451C>T c.1111C>T (p.Gln371Ter) c.*1118C>T (n.*1118C>T) c.967C>T (p.Gln323Ter) c.1075C>T (p.Gln359Ter) c.*165C>T (n.*165C>T) c.1030C>T (p.Gln344Ter) | gnomAD v4 |
| 17 | g.6425468G>C | CA397394176 | AIPL1 | c.1147C>G (p.Gln383Glu) c.958C>G (p.Gln320Glu) c.*1019C>G (n.*1019C>G) c.1081C>G (p.Gln361Glu) c.251+8451C>G c.1111C>G (p.Gln371Glu) c.*1118C>G (n.*1118C>G) c.967C>G (p.Gln323Glu) c.1075C>G (p.Gln359Glu) c.*165C>G (n.*165C>G) c.1030C>G (p.Gln344Glu) | |
| 17 | g.6425468G>T | CA397394174 | AIPL1 | c.1147C>A (p.Gln383Lys) c.958C>A (p.Gln320Lys) c.*1019C>A (n.*1019C>A) c.1081C>A (p.Gln361Lys) c.251+8451C>A c.1111C>A (p.Gln371Lys) c.*1118C>A (n.*1118C>A) c.967C>A (p.Gln323Lys) c.1075C>A (p.Gln359Lys) c.*165C>A (n.*165C>A) c.1030C>A (p.Gln344Lys) | |
| 17 | g.6425469C>A | CA497687262 | AIPL1 | c.1146G>T (p.Leu382=) c.957G>T (p.Leu319=) c.*1018G>T (n.*1018G>T) c.1080G>T (p.Leu360=) c.251+8450G>T c.1110G>T (p.Leu370=) c.*1117G>T (n.*1117G>T) c.966G>T (p.Leu322=) c.1074G>T (p.Leu358=) c.*164G>T (n.*164G>T) c.1029G>T (p.Leu343=) | gnomAD v4 |
| 17 | g.6425469C>G | CA497687264 | AIPL1 | c.1146G>C (p.Leu382=) c.957G>C (p.Leu319=) c.*1018G>C (n.*1018G>C) c.1080G>C (p.Leu360=) c.251+8450G>C c.1110G>C (p.Leu370=) c.*1117G>C (n.*1117G>C) c.966G>C (p.Leu322=) c.1074G>C (p.Leu358=) c.*164G>C (n.*164G>C) c.1029G>C (p.Leu343=) | |
| 17 | g.6425469C>T | CA497687263 | AIPL1 | c.1146G>A (p.Leu382=) c.957G>A (p.Leu319=) c.*1018G>A (n.*1018G>A) c.1080G>A (p.Leu360=) c.251+8450G>A c.1110G>A (p.Leu370=) c.*1117G>A (n.*1117G>A) c.966G>A (p.Leu322=) c.1074G>A (p.Leu358=) c.*164G>A (n.*164G>A) c.1029G>A (p.Leu343=) | gnomAD v4 COSMIC |
| 17 | g.6425470del | CA2635688829 | AIPL1 | c.1145del (p.Leu382ArgfsTer?) c.956del (p.Leu319ArgfsTer?) c.*1017del (n.*1017del) c.1079del (p.Leu360ArgfsTer?) c.251+8449del c.1109del (p.Leu370ArgfsTer?) c.*1116del (n.*1116del) c.965del (p.Leu322ArgfsTer?) c.1073del (p.Leu358ArgfsTer?) c.*163del (n.*163del) c.1028del (p.Leu343ArgfsTer?) | gnomAD v4 |
| 17 | g.6425470A= | CA2245346485 | AIPL1 | c.1145T= (p.Leu382=) c.956T= (p.Leu319=) c.*1017T= (n.*1017T=) c.1079T= (p.Leu360=) c.251+8449T= c.1109T= (p.Leu370=) c.*1116T= (n.*1116T=) c.965T= (p.Leu322=) c.1073T= (p.Leu358=) c.*163T= (n.*163T=) c.1028T= (p.Leu343=) | |
| 17 | g.6425470A>C | CA8328301 | AIPL1 | c.1145T>G (p.Leu382Arg) c.956T>G (p.Leu319Arg) c.*1017T>G (n.*1017T>G) c.1079T>G (p.Leu360Arg) c.251+8449T>G c.1109T>G (p.Leu370Arg) c.*1116T>G (n.*1116T>G) c.965T>G (p.Leu322Arg) c.1073T>G (p.Leu358Arg) c.*163T>G (n.*163T>G) c.1028T>G (p.Leu343Arg) | dbSNP ExAC gnomAD v2 |
| 17 | g.6425470A>G | CA397394177 | AIPL1 | c.1145T>C (p.Leu382Pro) c.956T>C (p.Leu319Pro) c.*1017T>C (n.*1017T>C) c.1079T>C (p.Leu360Pro) c.251+8449T>C c.1109T>C (p.Leu370Pro) c.*1116T>C (n.*1116T>C) c.965T>C (p.Leu322Pro) c.1073T>C (p.Leu358Pro) c.*163T>C (n.*163T>C) c.1028T>C (p.Leu343Pro) | dbSNP gnomAD v4 |
| 17 | g.6425470A>T | CA397394178 | AIPL1 | c.1145T>A (p.Leu382Gln) c.956T>A (p.Leu319Gln) c.*1017T>A (n.*1017T>A) c.1079T>A (p.Leu360Gln) c.251+8449T>A c.1109T>A (p.Leu370Gln) c.*1116T>A (n.*1116T>A) c.965T>A (p.Leu322Gln) c.1073T>A (p.Leu358Gln) c.*163T>A (n.*163T>A) c.1028T>A (p.Leu343Gln) | dbSNP |
| 17 | g.6425471G>A | CA497687265 | AIPL1 | c.1144C>T (p.Leu382=) c.955C>T (p.Leu319=) c.*1016C>T (n.*1016C>T) c.1078C>T (p.Leu360=) c.251+8448C>T c.1108C>T (p.Leu370=) c.*1115C>T (n.*1115C>T) c.964C>T (p.Leu322=) c.1072C>T (p.Leu358=) c.*162C>T (n.*162C>T) c.1027C>T (p.Leu343=) | |
| 17 | g.6425471G>C | CA397394179 | AIPL1 | c.1144C>G (p.Leu382Val) c.955C>G (p.Leu319Val) c.*1016C>G (n.*1016C>G) c.1078C>G (p.Leu360Val) c.251+8448C>G c.1108C>G (p.Leu370Val) c.*1115C>G (n.*1115C>G) c.964C>G (p.Leu322Val) c.1072C>G (p.Leu358Val) c.*162C>G (n.*162C>G) c.1027C>G (p.Leu343Val) | |
| 17 | g.6425471G>T | CA397394180 | AIPL1 | c.1144C>A (p.Leu382Met) c.955C>A (p.Leu319Met) c.*1016C>A (n.*1016C>A) c.1078C>A (p.Leu360Met) c.251+8448C>A c.1108C>A (p.Leu370Met) c.*1115C>A (n.*1115C>A) c.964C>A (p.Leu322Met) c.1072C>A (p.Leu358Met) c.*162C>A (n.*162C>A) c.1027C>A (p.Leu343Met) | gnomAD v4 |
| 17 | g.6425472C>A | CA8328302 | AIPL1 | c.1143G>T (p.Ser381=) c.954G>T (p.Ser318=) c.*1015G>T (n.*1015G>T) c.1077G>T (p.Ser359=) c.251+8447G>T c.1107G>T (p.Ser369=) c.*1114G>T (n.*1114G>T) c.963G>T (p.Ser321=) c.1071G>T (p.Ser357=) c.*161G>T (n.*161G>T) c.1026G>T (p.Ser342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425472C= | CA2245346489 | AIPL1 | c.1143G= (p.Ser381=) c.954G= (p.Ser318=) c.*1015G= (n.*1015G=) c.1077G= (p.Ser359=) c.251+8447G= c.1107G= (p.Ser369=) c.*1114G= (n.*1114G=) c.963G= (p.Ser321=) c.1071G= (p.Ser357=) c.*161G= (n.*161G=) c.1026G= (p.Ser342=) | |
| 17 | g.6425472C>G | CA497687266 | AIPL1 | c.1143G>C (p.Ser381=) c.954G>C (p.Ser318=) c.*1015G>C (n.*1015G>C) c.1077G>C (p.Ser359=) c.251+8447G>C c.1107G>C (p.Ser369=) c.*1114G>C (n.*1114G>C) c.963G>C (p.Ser321=) c.1071G>C (p.Ser357=) c.*161G>C (n.*161G>C) c.1026G>C (p.Ser342=) | |
| 17 | g.6425472C>T | CA497687267 | AIPL1 | c.1143G>A (p.Ser381=) c.954G>A (p.Ser318=) c.*1015G>A (n.*1015G>A) c.1077G>A (p.Ser359=) c.251+8447G>A c.1107G>A (p.Ser369=) c.*1114G>A (n.*1114G>A) c.963G>A (p.Ser321=) c.1071G>A (p.Ser357=) c.*161G>A (n.*161G>A) c.1026G>A (p.Ser342=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425473G>A | CA397394181 | AIPL1 | c.1142C>T (p.Ser381Leu) c.953C>T (p.Ser318Leu) c.*1014C>T (n.*1014C>T) c.1076C>T (p.Ser359Leu) c.251+8446C>T c.1106C>T (p.Ser369Leu) c.*1113C>T (n.*1113C>T) c.962C>T (p.Ser321Leu) c.1070C>T (p.Ser357Leu) c.*160C>T (n.*160C>T) c.1025C>T (p.Ser342Leu) | gnomAD v4 |
| 17 | g.6425473G>C | CA8328303 | AIPL1 | c.1142C>G (p.Ser381Trp) c.953C>G (p.Ser318Trp) c.*1014C>G (n.*1014C>G) c.1076C>G (p.Ser359Trp) c.251+8446C>G c.1106C>G (p.Ser369Trp) c.*1113C>G (n.*1113C>G) c.962C>G (p.Ser321Trp) c.1070C>G (p.Ser357Trp) c.*160C>G (n.*160C>G) c.1025C>G (p.Ser342Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425473G= | CA2245346492 | AIPL1 | c.1142C= (p.Ser381=) c.953C= (p.Ser318=) c.*1014C= (n.*1014C=) c.1076C= (p.Ser359=) c.251+8446C= c.1106C= (p.Ser369=) c.*1113C= (n.*1113C=) c.962C= (p.Ser321=) c.1070C= (p.Ser357=) c.*160C= (n.*160C=) c.1025C= (p.Ser342=) | |
| 17 | g.6425473G>T | CA397394182 | AIPL1 | c.1142C>A (p.Ser381Ter) c.953C>A (p.Ser318Ter) c.*1014C>A (n.*1014C>A) c.1076C>A (p.Ser359Ter) c.251+8446C>A c.1106C>A (p.Ser369Ter) c.*1113C>A (n.*1113C>A) c.962C>A (p.Ser321Ter) c.1070C>A (p.Ser357Ter) c.*160C>A (n.*160C>A) c.1025C>A (p.Ser342Ter) | gnomAD v4 |
| 17 | g.6425474A>C | CA397394183 | AIPL1 | c.1141T>G (p.Ser381Ala) c.952T>G (p.Ser318Ala) c.*1013T>G (n.*1013T>G) c.1075T>G (p.Ser359Ala) c.251+8445T>G c.1105T>G (p.Ser369Ala) c.*1112T>G (n.*1112T>G) c.961T>G (p.Ser321Ala) c.1069T>G (p.Ser357Ala) c.*159T>G (n.*159T>G) c.1024T>G (p.Ser342Ala) | |
| 17 | g.6425474A>G | CA397394184 | AIPL1 | c.1141T>C (p.Ser381Pro) c.952T>C (p.Ser318Pro) c.*1013T>C (n.*1013T>C) c.1075T>C (p.Ser359Pro) c.251+8445T>C c.1105T>C (p.Ser369Pro) c.*1112T>C (n.*1112T>C) c.961T>C (p.Ser321Pro) c.1069T>C (p.Ser357Pro) c.*159T>C (n.*159T>C) c.1024T>C (p.Ser342Pro) | COSMIC |
| 17 | g.6425474A>T | CA397394185 | AIPL1 | c.1141T>A (p.Ser381Thr) c.952T>A (p.Ser318Thr) c.*1013T>A (n.*1013T>A) c.1075T>A (p.Ser359Thr) c.251+8445T>A c.1105T>A (p.Ser369Thr) c.*1112T>A (n.*1112T>A) c.961T>A (p.Ser321Thr) c.1069T>A (p.Ser357Thr) c.*159T>A (n.*159T>A) c.1024T>A (p.Ser342Thr) | |
| 17 | g.6425475G>A | CA497687268 | AIPL1 | c.1140C>T (p.His380=) c.951C>T (p.His317=) c.*1012C>T (n.*1012C>T) c.1074C>T (p.His358=) c.251+8444C>T c.1104C>T (p.His368=) c.*1111C>T (n.*1111C>T) c.960C>T (p.His320=) c.1068C>T (p.His356=) c.*158C>T (n.*158C>T) c.1023C>T (p.His341=) | |
| 17 | g.6425475G>C | CA397394187 | AIPL1 | c.1140C>G (p.His380Gln) c.951C>G (p.His317Gln) c.*1012C>G (n.*1012C>G) c.1074C>G (p.His358Gln) c.251+8444C>G c.1104C>G (p.His368Gln) c.*1111C>G (n.*1111C>G) c.960C>G (p.His320Gln) c.1068C>G (p.His356Gln) c.*158C>G (n.*158C>G) c.1023C>G (p.His341Gln) | gnomAD v4 |