| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar 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.6425468dup | CA2963253642 | AIPL1 | c.1147dup (p.Gln383ProfsTer25) c.958dup (p.Gln320ProfsTer25) c.*1019dup (n.*1019dup) c.1081dup (p.Gln361ProfsTer?) c.251+8451dup c.1111dup (p.Gln371ProfsTer25) c.*1118dup (n.*1118dup) c.967dup (p.Gln323ProfsTer?) c.1075dup (p.Gln359ProfsTer?) c.*165dup (n.*165dup) c.967dup (p.Gln323ProfsTer25) c.1081dup (p.Gln361ProfsTer25) c.1075dup (p.Gln359ProfsTer25) c.1030dup (p.Gln344ProfsTer25) | |
| 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.6425469_6425470del | CA2963253643 | AIPL1 | c.1145_1146del (p.Leu382ProfsTer25) c.956_957del (p.Leu319ProfsTer25) c.*1017_*1018del (n.*1017_*1018del) c.1079_1080del (p.Leu360ProfsTer?) c.251+8449_251+8450del c.1109_1110del (p.Leu370ProfsTer25) c.*1116_*1117del (n.*1116_*1117del) c.965_966del (p.Leu322ProfsTer?) c.1073_1074del (p.Leu358ProfsTer?) c.*163_*164del (n.*163_*164del) c.965_966del (p.Leu322ProfsTer25) c.1079_1080del (p.Leu360ProfsTer25) c.1073_1074del (p.Leu358ProfsTer25) c.1028_1029del (p.Leu343ProfsTer25) | |
| 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) | ClinVar 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=) | ClinVar 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=) | ClinVar |
| 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=) | ClinVar 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 |
| 17 | g.6425475G>T | CA397394186 | AIPL1 | c.1140C>A (p.His380Gln) c.951C>A (p.His317Gln) c.*1012C>A (n.*1012C>A) c.1074C>A (p.His358Gln) c.251+8444C>A c.1104C>A (p.His368Gln) c.*1111C>A (n.*1111C>A) c.960C>A (p.His320Gln) c.1068C>A (p.His356Gln) c.*158C>A (n.*158C>A) c.1023C>A (p.His341Gln) | gnomAD v4 |
| 17 | g.6425475dup | CA2963253644 | AIPL1 | c.1140dup (p.Ser381LeufsTer27) c.951dup (p.Ser318LeufsTer27) c.*1012dup (n.*1012dup) c.1074dup (p.Ser359LeufsTer?) c.251+8444dup c.1104dup (p.Ser369LeufsTer27) c.*1111dup (n.*1111dup) c.960dup (p.Ser321LeufsTer?) c.1068dup (p.Ser357LeufsTer?) c.*158dup (n.*158dup) c.960dup (p.Ser321LeufsTer27) c.1074dup (p.Ser359LeufsTer27) c.1068dup (p.Ser357LeufsTer27) c.1023dup (p.Ser342LeufsTer27) | |
| 17 | g.6425476T>A | CA397394188 | AIPL1 | c.1139A>T (p.His380Leu) c.950A>T (p.His317Leu) c.*1011A>T (n.*1011A>T) c.1073A>T (p.His358Leu) c.251+8443A>T c.1103A>T (p.His368Leu) c.*1110A>T (n.*1110A>T) c.959A>T (p.His320Leu) c.1067A>T (p.His356Leu) c.*157A>T (n.*157A>T) c.1022A>T (p.His341Leu) | gnomAD v4 |
| 17 | g.6425476T>C | CA397394189 | AIPL1 | c.1139A>G (p.His380Arg) c.950A>G (p.His317Arg) c.*1011A>G (n.*1011A>G) c.1073A>G (p.His358Arg) c.251+8443A>G c.1103A>G (p.His368Arg) c.*1110A>G (n.*1110A>G) c.959A>G (p.His320Arg) c.1067A>G (p.His356Arg) c.*157A>G (n.*157A>G) c.1022A>G (p.His341Arg) | gnomAD v4 |
| 17 | g.6425476T>G | CA397394190 | AIPL1 | c.1139A>C (p.His380Pro) c.950A>C (p.His317Pro) c.*1011A>C (n.*1011A>C) c.1073A>C (p.His358Pro) c.251+8443A>C c.1103A>C (p.His368Pro) c.*1110A>C (n.*1110A>C) c.959A>C (p.His320Pro) c.1067A>C (p.His356Pro) c.*157A>C (n.*157A>C) c.1022A>C (p.His341Pro) | |
| 17 | g.6425477G>A | CA397394191 | AIPL1 | c.1138C>T (p.His380Tyr) c.949C>T (p.His317Tyr) c.*1010C>T (n.*1010C>T) c.1072C>T (p.His358Tyr) c.251+8442C>T c.1102C>T (p.His368Tyr) c.*1109C>T (n.*1109C>T) c.958C>T (p.His320Tyr) c.1066C>T (p.His356Tyr) c.*156C>T (n.*156C>T) c.1021C>T (p.His341Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425477G>C | CA397394192 | AIPL1 | c.1138C>G (p.His380Asp) c.949C>G (p.His317Asp) c.*1010C>G (n.*1010C>G) c.1072C>G (p.His358Asp) c.251+8442C>G c.1102C>G (p.His368Asp) c.*1109C>G (n.*1109C>G) c.958C>G (p.His320Asp) c.1066C>G (p.His356Asp) c.*156C>G (n.*156C>G) c.1021C>G (p.His341Asp) | |
| 17 | g.6425477G= | CA2245346494 | AIPL1 | c.1138C= (p.His380=) c.949C= (p.His317=) c.*1010C= (n.*1010C=) c.1072C= (p.His358=) c.251+8442C= c.1102C= (p.His368=) c.*1109C= (n.*1109C=) c.958C= (p.His320=) c.1066C= (p.His356=) c.*156C= (n.*156C=) c.1021C= (p.His341=) | |
| 17 | g.6425477G>T | CA397394193 | AIPL1 | c.1138C>A (p.His380Asn) c.949C>A (p.His317Asn) c.*1010C>A (n.*1010C>A) c.1072C>A (p.His358Asn) c.251+8442C>A c.1102C>A (p.His368Asn) c.*1109C>A (n.*1109C>A) c.958C>A (p.His320Asn) c.1066C>A (p.His356Asn) c.*156C>A (n.*156C>A) c.1021C>A (p.His341Asn) | |
| 17 | g.6425478C>A | CA497687269 | AIPL1 | c.1137G>T (p.Gly379=) c.948G>T (p.Gly316=) c.*1009G>T (n.*1009G>T) c.1071G>T (p.Gly357=) c.251+8441G>T c.1101G>T (p.Gly367=) c.*1108G>T (n.*1108G>T) c.957G>T (p.Gly319=) c.1065G>T (p.Gly355=) c.*155G>T (n.*155G>T) c.1020G>T (p.Gly340=) | |
| 17 | g.6425478C>G | CA497687270 | AIPL1 | c.1137G>C (p.Gly379=) c.948G>C (p.Gly316=) c.*1009G>C (n.*1009G>C) c.1071G>C (p.Gly357=) c.251+8441G>C c.1101G>C (p.Gly367=) c.*1108G>C (n.*1108G>C) c.957G>C (p.Gly319=) c.1065G>C (p.Gly355=) c.*155G>C (n.*155G>C) c.1020G>C (p.Gly340=) | |
| 17 | g.6425478C>T | CA497687271 | AIPL1 | c.1137G>A (p.Gly379=) c.948G>A (p.Gly316=) c.*1009G>A (n.*1009G>A) c.1071G>A (p.Gly357=) c.251+8441G>A c.1101G>A (p.Gly367=) c.*1108G>A (n.*1108G>A) c.957G>A (p.Gly319=) c.1065G>A (p.Gly355=) c.*155G>A (n.*155G>A) c.1020G>A (p.Gly340=) | gnomAD v4 |
| 17 | g.6425480del | CA2635688830 | AIPL1 | c.1137del (p.His380ThrfsTer?) c.948del (p.His317ThrfsTer?) c.*1009del (n.*1009del) c.1071del (p.His358ThrfsTer?) c.251+8441del c.1101del (p.His368ThrfsTer?) c.*1108del (n.*1108del) c.957del (p.His320ThrfsTer?) c.1065del (p.His356ThrfsTer?) c.*155del (n.*155del) c.1020del (p.His341ThrfsTer?) | gnomAD v4 |
| 17 | g.6425479C>A | CA397394194 | AIPL1 | c.1136G>T (p.Gly379Val) c.947G>T (p.Gly316Val) c.*1008G>T (n.*1008G>T) c.1070G>T (p.Gly357Val) c.251+8440G>T c.1100G>T (p.Gly367Val) c.*1107G>T (n.*1107G>T) c.956G>T (p.Gly319Val) c.1064G>T (p.Gly355Val) c.*154G>T (n.*154G>T) c.1019G>T (p.Gly340Val) | |
| 17 | g.6425479C= | CA2245346496 | AIPL1 | c.1136G= (p.Gly379=) c.947G= (p.Gly316=) c.*1008G= (n.*1008G=) c.1070G= (p.Gly357=) c.251+8440G= c.1100G= (p.Gly367=) c.*1107G= (n.*1107G=) c.956G= (p.Gly319=) c.1064G= (p.Gly355=) c.*154G= (n.*154G=) c.1019G= (p.Gly340=) | |
| 17 | g.6425479C>G | CA397394195 | AIPL1 | c.1136G>C (p.Gly379Ala) c.947G>C (p.Gly316Ala) c.*1008G>C (n.*1008G>C) c.1070G>C (p.Gly357Ala) c.251+8440G>C c.1100G>C (p.Gly367Ala) c.*1107G>C (n.*1107G>C) c.956G>C (p.Gly319Ala) c.1064G>C (p.Gly355Ala) c.*154G>C (n.*154G>C) c.1019G>C (p.Gly340Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.6425479C>T | CA397394196 | AIPL1 | c.1136G>A (p.Gly379Glu) c.947G>A (p.Gly316Glu) c.*1008G>A (n.*1008G>A) c.1070G>A (p.Gly357Glu) c.251+8440G>A c.1100G>A (p.Gly367Glu) c.*1107G>A (n.*1107G>A) c.956G>A (p.Gly319Glu) c.1064G>A (p.Gly355Glu) c.*154G>A (n.*154G>A) c.1019G>A (p.Gly340Glu) | |
| 17 | g.6425480C>A | CA397394197 | AIPL1 | c.1135G>T (p.Gly379Trp) c.946G>T (p.Gly316Trp) c.*1007G>T (n.*1007G>T) c.1069G>T (p.Gly357Trp) c.251+8439G>T c.1099G>T (p.Gly367Trp) c.*1106G>T (n.*1106G>T) c.955G>T (p.Gly319Trp) c.1063G>T (p.Gly355Trp) c.*153G>T (n.*153G>T) c.1018G>T (p.Gly340Trp) | |
| 17 | g.6425480C= | CA2245346498 | AIPL1 | c.1135G= (p.Gly379=) c.946G= (p.Gly316=) c.*1007G= (n.*1007G=) c.1069G= (p.Gly357=) c.251+8439G= c.1099G= (p.Gly367=) c.*1106G= (n.*1106G=) c.955G= (p.Gly319=) c.1063G= (p.Gly355=) c.*153G= (n.*153G=) c.1018G= (p.Gly340=) | |
| 17 | g.6425480C>G | CA287323645 | AIPL1 | c.1135G>C (p.Gly379Arg) c.946G>C (p.Gly316Arg) c.*1007G>C (n.*1007G>C) c.1069G>C (p.Gly357Arg) c.251+8439G>C c.1099G>C (p.Gly367Arg) c.*1106G>C (n.*1106G>C) c.955G>C (p.Gly319Arg) c.1063G>C (p.Gly355Arg) c.*153G>C (n.*153G>C) c.1018G>C (p.Gly340Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425480C>T | CA397394198 | AIPL1 | c.1135G>A (p.Gly379Arg) c.946G>A (p.Gly316Arg) c.*1007G>A (n.*1007G>A) c.1069G>A (p.Gly357Arg) c.251+8439G>A c.1099G>A (p.Gly367Arg) c.*1106G>A (n.*1106G>A) c.955G>A (p.Gly319Arg) c.1063G>A (p.Gly355Arg) c.*153G>A (n.*153G>A) c.1018G>A (p.Gly340Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |