Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
17 | g.6425481T>A | CA497687272 | AIPL1 | c.1134A>T (p.Pro378=) c.945A>T (p.Pro315=) c.*1006A>T (n.*1006A>T) c.1068A>T (p.Pro356=) c.251+8438A>T c.1098A>T (p.Pro366=) c.*1105A>T (n.*1105A>T) c.954A>T (p.Pro318=) c.1062A>T (p.Pro354=) c.*152A>T (n.*152A>T) c.1017A>T (p.Pro339=) | |
17 | g.6425481T>C | CA497687273 | AIPL1 | c.1134A>G (p.Pro378=) c.945A>G (p.Pro315=) c.*1006A>G (n.*1006A>G) c.1068A>G (p.Pro356=) c.251+8438A>G c.1098A>G (p.Pro366=) c.*1105A>G (n.*1105A>G) c.954A>G (p.Pro318=) c.1062A>G (p.Pro354=) c.*152A>G (n.*152A>G) c.1017A>G (p.Pro339=) | gnomAD v4 |
17 | g.6425481T>G | CA497687274 | AIPL1 | c.1134A>C (p.Pro378=) c.945A>C (p.Pro315=) c.*1006A>C (n.*1006A>C) c.1068A>C (p.Pro356=) c.251+8438A>C c.1098A>C (p.Pro366=) c.*1105A>C (n.*1105A>C) c.954A>C (p.Pro318=) c.1062A>C (p.Pro354=) c.*152A>C (n.*152A>C) c.1017A>C (p.Pro339=) | |
17 | g.6425482G>A | CA397394200 | AIPL1 | c.1133C>T (p.Pro378Leu) c.944C>T (p.Pro315Leu) c.*1005C>T (n.*1005C>T) c.1067C>T (p.Pro356Leu) c.251+8437C>T c.1097C>T (p.Pro366Leu) c.*1104C>T (n.*1104C>T) c.953C>T (p.Pro318Leu) c.1061C>T (p.Pro354Leu) c.*151C>T (n.*151C>T) c.1016C>T (p.Pro339Leu) | gnomAD v4 |
17 | g.6425482G>C | CA397394201 | AIPL1 | c.1133C>G (p.Pro378Arg) c.944C>G (p.Pro315Arg) c.*1005C>G (n.*1005C>G) c.1067C>G (p.Pro356Arg) c.251+8437C>G c.1097C>G (p.Pro366Arg) c.*1104C>G (n.*1104C>G) c.953C>G (p.Pro318Arg) c.1061C>G (p.Pro354Arg) c.*151C>G (n.*151C>G) c.1016C>G (p.Pro339Arg) | |
17 | g.6425482G>T | CA397394199 | AIPL1 | c.1133C>A (p.Pro378Gln) c.944C>A (p.Pro315Gln) c.*1005C>A (n.*1005C>A) c.1067C>A (p.Pro356Gln) c.251+8437C>A c.1097C>A (p.Pro366Gln) c.*1104C>A (n.*1104C>A) c.953C>A (p.Pro318Gln) c.1061C>A (p.Pro354Gln) c.*151C>A (n.*151C>A) c.1016C>A (p.Pro339Gln) | gnomAD v4 |
17 | g.6425485del | CA2635688831 | AIPL1 | c.1133del (p.Pro378GlnfsTer?) c.944del (p.Pro315GlnfsTer?) c.*1005del (n.*1005del) c.1067del (p.Pro356GlnfsTer?) c.251+8437del c.1097del (p.Pro366GlnfsTer?) c.*1104del (n.*1104del) c.953del (p.Pro318GlnfsTer?) c.1061del (p.Pro354GlnfsTer?) c.*151del (n.*151del) c.1016del (p.Pro339GlnfsTer?) | gnomAD v4 |
17 | g.6425483G>A | CA397394204 | AIPL1 | c.1132C>T (p.Pro378Ser) c.943C>T (p.Pro315Ser) c.*1004C>T (n.*1004C>T) c.1066C>T (p.Pro356Ser) c.251+8436C>T c.1096C>T (p.Pro366Ser) c.*1103C>T (n.*1103C>T) c.952C>T (p.Pro318Ser) c.1060C>T (p.Pro354Ser) c.*150C>T (n.*150C>T) c.1015C>T (p.Pro339Ser) | |
17 | g.6425483G>C | CA397394202 | AIPL1 | c.1132C>G (p.Pro378Ala) c.943C>G (p.Pro315Ala) c.*1004C>G (n.*1004C>G) c.1066C>G (p.Pro356Ala) c.251+8436C>G c.1096C>G (p.Pro366Ala) c.*1103C>G (n.*1103C>G) c.952C>G (p.Pro318Ala) c.1060C>G (p.Pro354Ala) c.*150C>G (n.*150C>G) c.1015C>G (p.Pro339Ala) | |
17 | g.6425483G>T | CA397394203 | AIPL1 | c.1132C>A (p.Pro378Thr) c.943C>A (p.Pro315Thr) c.*1004C>A (n.*1004C>A) c.1066C>A (p.Pro356Thr) c.251+8436C>A c.1096C>A (p.Pro366Thr) c.*1103C>A (n.*1103C>A) c.952C>A (p.Pro318Thr) c.1060C>A (p.Pro354Thr) c.*150C>A (n.*150C>A) c.1015C>A (p.Pro339Thr) | gnomAD v4 |
17 | g.6425484G>A | CA8328304 | AIPL1 | c.1131C>T (p.Ser377=) c.942C>T (p.Ser314=) c.*1003C>T (n.*1003C>T) c.1065C>T (p.Ser355=) c.251+8435C>T c.1095C>T (p.Ser365=) c.*1102C>T (n.*1102C>T) c.951C>T (p.Ser317=) c.1059C>T (p.Ser353=) c.*149C>T (n.*149C>T) c.1014C>T (p.Ser338=) | dbSNP ExAC gnomAD v2 |
17 | g.6425484G>C | CA497687277 | AIPL1 | c.1131C>G (p.Ser377=) c.942C>G (p.Ser314=) c.*1003C>G (n.*1003C>G) c.1065C>G (p.Ser355=) c.251+8435C>G c.1095C>G (p.Ser365=) c.*1102C>G (n.*1102C>G) c.951C>G (p.Ser317=) c.1059C>G (p.Ser353=) c.*149C>G (n.*149C>G) c.1014C>G (p.Ser338=) | |
17 | g.6425484G= | CA2245346503 | AIPL1 | c.1131C= (p.Ser377=) c.942C= (p.Ser314=) c.*1003C= (n.*1003C=) c.1065C= (p.Ser355=) c.251+8435C= c.1095C= (p.Ser365=) c.*1102C= (n.*1102C=) c.951C= (p.Ser317=) c.1059C= (p.Ser353=) c.*149C= (n.*149C=) c.1014C= (p.Ser338=) | |
17 | g.6425484G>T | CA497687276 | AIPL1 | c.1131C>A (p.Ser377=) c.942C>A (p.Ser314=) c.*1003C>A (n.*1003C>A) c.1065C>A (p.Ser355=) c.251+8435C>A c.1095C>A (p.Ser365=) c.*1102C>A (n.*1102C>A) c.951C>A (p.Ser317=) c.1059C>A (p.Ser353=) c.*149C>A (n.*149C>A) c.1014C>A (p.Ser338=) | gnomAD v4 |
17 | g.6425485G>A | CA397394205 | AIPL1 | c.1130C>T (p.Ser377Phe) c.941C>T (p.Ser314Phe) c.*1002C>T (n.*1002C>T) c.1064C>T (p.Ser355Phe) c.251+8434C>T c.1094C>T (p.Ser365Phe) c.*1101C>T (n.*1101C>T) c.950C>T (p.Ser317Phe) c.1058C>T (p.Ser353Phe) c.*148C>T (n.*148C>T) c.1013C>T (p.Ser338Phe) | |
17 | g.6425485G>C | CA397394206 | AIPL1 | c.1130C>G (p.Ser377Cys) c.941C>G (p.Ser314Cys) c.*1002C>G (n.*1002C>G) c.1064C>G (p.Ser355Cys) c.251+8434C>G c.1094C>G (p.Ser365Cys) c.*1101C>G (n.*1101C>G) c.950C>G (p.Ser317Cys) c.1058C>G (p.Ser353Cys) c.*148C>G (n.*148C>G) c.1013C>G (p.Ser338Cys) | |
17 | g.6425485G= | CA2245346506 | AIPL1 | c.1130C= (p.Ser377=) c.941C= (p.Ser314=) c.*1002C= (n.*1002C=) c.1064C= (p.Ser355=) c.251+8434C= c.1094C= (p.Ser365=) c.*1101C= (n.*1101C=) c.950C= (p.Ser317=) c.1058C= (p.Ser353=) c.*148C= (n.*148C=) c.1013C= (p.Ser338=) | |
17 | g.6425485G>T | CA397394207 | AIPL1 | c.1130C>A (p.Ser377Tyr) c.941C>A (p.Ser314Tyr) c.*1002C>A (n.*1002C>A) c.1064C>A (p.Ser355Tyr) c.251+8434C>A c.1094C>A (p.Ser365Tyr) c.*1101C>A (n.*1101C>A) c.950C>A (p.Ser317Tyr) c.1058C>A (p.Ser353Tyr) c.*148C>A (n.*148C>A) c.1013C>A (p.Ser338Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425486A= | CA2245346508 | AIPL1 | c.1129T= (p.Ser377=) c.940T= (p.Ser314=) c.*1001T= (n.*1001T=) c.1063T= (p.Ser355=) c.251+8433T= c.1093T= (p.Ser365=) c.*1100T= (n.*1100T=) c.949T= (p.Ser317=) c.1057T= (p.Ser353=) c.*147T= (n.*147T=) c.1012T= (p.Ser338=) | |
17 | g.6425486A>C | CA397394208 | AIPL1 | c.1129T>G (p.Ser377Ala) c.940T>G (p.Ser314Ala) c.*1001T>G (n.*1001T>G) c.1063T>G (p.Ser355Ala) c.251+8433T>G c.1093T>G (p.Ser365Ala) c.*1100T>G (n.*1100T>G) c.949T>G (p.Ser317Ala) c.1057T>G (p.Ser353Ala) c.*147T>G (n.*147T>G) c.1012T>G (p.Ser338Ala) | |
17 | g.6425486A>G | CA397394209 | AIPL1 | c.1129T>C (p.Ser377Pro) c.940T>C (p.Ser314Pro) c.*1001T>C (n.*1001T>C) c.1063T>C (p.Ser355Pro) c.251+8433T>C c.1093T>C (p.Ser365Pro) c.*1100T>C (n.*1100T>C) c.949T>C (p.Ser317Pro) c.1057T>C (p.Ser353Pro) c.*147T>C (n.*147T>C) c.1012T>C (p.Ser338Pro) | |
17 | g.6425486A>T | CA8328305 | AIPL1 | c.1129T>A (p.Ser377Thr) c.940T>A (p.Ser314Thr) c.*1001T>A (n.*1001T>A) c.1063T>A (p.Ser355Thr) c.251+8433T>A c.1093T>A (p.Ser365Thr) c.*1100T>A (n.*1100T>A) c.949T>A (p.Ser317Thr) c.1057T>A (p.Ser353Thr) c.*147T>A (n.*147T>A) c.1012T>A (p.Ser338Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425487C>A | CA497687278 | AIPL1 | c.1128G>T (p.Pro376=) c.939G>T (p.Pro313=) c.*1000G>T (n.*1000G>T) c.1062G>T (p.Pro354=) c.251+8432G>T c.1092G>T (p.Pro364=) c.*1099G>T (n.*1099G>T) c.948G>T (p.Pro316=) c.1056G>T (p.Pro352=) c.*146G>T (n.*146G>T) c.1011G>T (p.Pro337=) | |
17 | g.6425487C= | CA2245346512 | AIPL1 | c.1128G= (p.Pro376=) c.939G= (p.Pro313=) c.*1000G= (n.*1000G=) c.1062G= (p.Pro354=) c.251+8432G= c.1092G= (p.Pro364=) c.*1099G= (n.*1099G=) c.948G= (p.Pro316=) c.1056G= (p.Pro352=) c.*146G= (n.*146G=) c.1011G= (p.Pro337=) | |
17 | g.6425487C>G | CA497687280 | AIPL1 | c.1128G>C (p.Pro376=) c.939G>C (p.Pro313=) c.*1000G>C (n.*1000G>C) c.1062G>C (p.Pro354=) c.251+8432G>C c.1092G>C (p.Pro364=) c.*1099G>C (n.*1099G>C) c.948G>C (p.Pro316=) c.1056G>C (p.Pro352=) c.*146G>C (n.*146G>C) c.1011G>C (p.Pro337=) | |
17 | g.6425487C>T | CA497687279 | AIPL1 | c.1128G>A (p.Pro376=) c.939G>A (p.Pro313=) c.*1000G>A (n.*1000G>A) c.1062G>A (p.Pro354=) c.251+8432G>A c.1092G>A (p.Pro364=) c.*1099G>A (n.*1099G>A) c.948G>A (p.Pro316=) c.1056G>A (p.Pro352=) c.*146G>A (n.*146G>A) c.1011G>A (p.Pro337=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425487_6425488delinsCG | CA2245346511 | AIPL1 | c.1127_1128delinsCG (p.Pro376=) c.938_939delinsCG (p.Pro313=) c.*999_*1000delinsCG (n.*999_*1000delinsCG) c.1061_1062delinsCG (p.Pro354=) c.251+8431_251+8432delinsCG c.1091_1092delinsCG (p.Pro364=) c.*1098_*1099delinsCG (n.*1098_*1099delinsCG) c.947_948delinsCG (p.Pro316=) c.1055_1056delinsCG (p.Pro352=) c.*145_*146delinsCG (n.*145_*146delinsCG) c.1010_1011delinsCG (p.Pro337=) | |
17 | g.6425488G>A | CA397394210 | AIPL1 | c.1127C>T (p.Pro376Leu) c.938C>T (p.Pro313Leu) c.*999C>T (n.*999C>T) c.1061C>T (p.Pro354Leu) c.251+8431C>T c.1091C>T (p.Pro364Leu) c.*1098C>T (n.*1098C>T) c.947C>T (p.Pro316Leu) c.1055C>T (p.Pro352Leu) c.*145C>T (n.*145C>T) c.1010C>T (p.Pro337Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |