Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar |
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 |
17 | g.6425488G>C | CA397394211 | AIPL1 | c.1127C>G (p.Pro376Arg) c.938C>G (p.Pro313Arg) c.*999C>G (n.*999C>G) c.1061C>G (p.Pro354Arg) c.251+8431C>G c.1091C>G (p.Pro364Arg) c.*1098C>G (n.*1098C>G) c.947C>G (p.Pro316Arg) c.1055C>G (p.Pro352Arg) c.*145C>G (n.*145C>G) c.1010C>G (p.Pro337Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425488G= | CA2245346514 | AIPL1 | c.1127C= (p.Pro376=) c.938C= (p.Pro313=) c.*999C= (n.*999C=) c.1061C= (p.Pro354=) c.251+8431C= c.1091C= (p.Pro364=) c.*1098C= (n.*1098C=) c.947C= (p.Pro316=) c.1055C= (p.Pro352=) c.*145C= (n.*145C=) c.1010C= (p.Pro337=) | |
17 | g.6425488G>T | CA397394212 | AIPL1 | c.1127C>A (p.Pro376Gln) c.938C>A (p.Pro313Gln) c.*999C>A (n.*999C>A) c.1061C>A (p.Pro354Gln) c.251+8431C>A c.1091C>A (p.Pro364Gln) c.*1098C>A (n.*1098C>A) c.947C>A (p.Pro316Gln) c.1055C>A (p.Pro352Gln) c.*145C>A (n.*145C>A) c.1010C>A (p.Pro337Gln) | gnomAD v3 gnomAD v4 |
17 | g.6425492dup | CA8328306 | AIPL1 | c.1127dup (p.Ser377ValfsTer?) c.938dup (p.Ser314ValfsTer?) c.*999dup (n.*999dup) c.1061dup (p.Ser355ValfsTer?) c.251+8431dup c.1091dup (p.Ser365ValfsTer?) c.*1098dup (n.*1098dup) c.947dup (p.Ser317ValfsTer?) c.1055dup (p.Ser353ValfsTer?) c.*145dup (n.*145dup) c.1010dup (p.Ser338ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425492del | CA645590904 | AIPL1 | c.1127del (p.Pro376ArgfsTer?) c.938del (p.Pro313ArgfsTer?) c.*999del (n.*999del) c.1061del (p.Pro354ArgfsTer?) c.251+8431del c.1091del (p.Pro364ArgfsTer?) c.*1098del (n.*1098del) c.947del (p.Pro316ArgfsTer?) c.1055del (p.Pro352ArgfsTer?) c.*145del (n.*145del) c.1010del (p.Pro337ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.6425489G>A | CA203312 | AIPL1 | c.1126C>T (p.Pro376Ser) c.937C>T (p.Pro313Ser) c.*998C>T (n.*998C>T) c.1060C>T (p.Pro354Ser) c.251+8430C>T c.1090C>T (p.Pro364Ser) c.*1097C>T (n.*1097C>T) c.946C>T (p.Pro316Ser) c.1054C>T (p.Pro352Ser) c.*144C>T (n.*144C>T) c.1009C>T (p.Pro337Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425489G>C | CA397394213 | AIPL1 | c.1126C>G (p.Pro376Ala) c.937C>G (p.Pro313Ala) c.*998C>G (n.*998C>G) c.1060C>G (p.Pro354Ala) c.251+8430C>G c.1090C>G (p.Pro364Ala) c.*1097C>G (n.*1097C>G) c.946C>G (p.Pro316Ala) c.1054C>G (p.Pro352Ala) c.*144C>G (n.*144C>G) c.1009C>G (p.Pro337Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425489G= | CA2245346518 | AIPL1 | c.1126C= (p.Pro376=) c.937C= (p.Pro313=) c.*998C= (n.*998C=) c.1060C= (p.Pro354=) c.251+8430C= c.1090C= (p.Pro364=) c.*1097C= (n.*1097C=) c.946C= (p.Pro316=) c.1054C= (p.Pro352=) c.*144C= (n.*144C=) c.1009C= (p.Pro337=) | |
17 | g.6425489G>T | CA397394214 | AIPL1 | c.1126C>A (p.Pro376Thr) c.937C>A (p.Pro313Thr) c.*998C>A (n.*998C>A) c.1060C>A (p.Pro354Thr) c.251+8430C>A c.1090C>A (p.Pro364Thr) c.*1097C>A (n.*1097C>A) c.946C>A (p.Pro316Thr) c.1054C>A (p.Pro352Thr) c.*144C>A (n.*144C>A) c.1009C>A (p.Pro337Thr) | gnomAD v4 |
17 | g.6425490G>A | CA497687281 | AIPL1 | c.1125C>T (p.Pro375=) c.936C>T (p.Pro312=) c.*997C>T (n.*997C>T) c.1059C>T (p.Pro353=) c.251+8429C>T c.1089C>T (p.Pro363=) c.*1096C>T (n.*1096C>T) c.945C>T (p.Pro315=) c.1053C>T (p.Pro351=) c.*143C>T (n.*143C>T) c.1008C>T (p.Pro336=) | gnomAD v4 |
17 | g.6425490G>C | CA497687283 | AIPL1 | c.1125C>G (p.Pro375=) c.936C>G (p.Pro312=) c.*997C>G (n.*997C>G) c.1059C>G (p.Pro353=) c.251+8429C>G c.1089C>G (p.Pro363=) c.*1096C>G (n.*1096C>G) c.945C>G (p.Pro315=) c.1053C>G (p.Pro351=) c.*143C>G (n.*143C>G) c.1008C>G (p.Pro336=) | |
17 | g.6425490G>T | CA497687282 | AIPL1 | c.1125C>A (p.Pro375=) c.936C>A (p.Pro312=) c.*997C>A (n.*997C>A) c.1059C>A (p.Pro353=) c.251+8429C>A c.1089C>A (p.Pro363=) c.*1096C>A (n.*1096C>A) c.945C>A (p.Pro315=) c.1053C>A (p.Pro351=) c.*143C>A (n.*143C>A) c.1008C>A (p.Pro336=) | gnomAD v4 COSMIC |
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.6425491G>A | CA397394215 | AIPL1 | c.1124C>T (p.Pro375Leu) c.935C>T (p.Pro312Leu) c.*996C>T (n.*996C>T) c.1058C>T (p.Pro353Leu) c.251+8428C>T c.1088C>T (p.Pro363Leu) c.*1095C>T (n.*1095C>T) c.944C>T (p.Pro315Leu) c.1052C>T (p.Pro351Leu) c.*142C>T (n.*142C>T) c.1007C>T (p.Pro336Leu) | gnomAD v4 |
17 | g.6425491G>C | CA397394216 | AIPL1 | c.1124C>G (p.Pro375Arg) c.935C>G (p.Pro312Arg) c.*996C>G (n.*996C>G) c.1058C>G (p.Pro353Arg) c.251+8428C>G c.1088C>G (p.Pro363Arg) c.*1095C>G (n.*1095C>G) c.944C>G (p.Pro315Arg) c.1052C>G (p.Pro351Arg) c.*142C>G (n.*142C>G) c.1007C>G (p.Pro336Arg) | |
17 | g.6425491G>T | CA397394217 | AIPL1 | c.1124C>A (p.Pro375His) c.935C>A (p.Pro312His) c.*996C>A (n.*996C>A) c.1058C>A (p.Pro353His) c.251+8428C>A c.1088C>A (p.Pro363His) c.*1095C>A (n.*1095C>A) c.944C>A (p.Pro315His) c.1052C>A (p.Pro351His) c.*142C>A (n.*142C>A) c.1007C>A (p.Pro336His) | |
17 | g.6425492G>A | CA397394218 | AIPL1 | c.1123C>T (p.Pro375Ser) c.934C>T (p.Pro312Ser) c.*995C>T (n.*995C>T) c.1057C>T (p.Pro353Ser) c.251+8427C>T c.1087C>T (p.Pro363Ser) c.*1094C>T (n.*1094C>T) c.943C>T (p.Pro315Ser) c.1051C>T (p.Pro351Ser) c.*141C>T (n.*141C>T) c.1006C>T (p.Pro336Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425492G>C | CA397394219 | AIPL1 | c.1123C>G (p.Pro375Ala) c.934C>G (p.Pro312Ala) c.*995C>G (n.*995C>G) c.1057C>G (p.Pro353Ala) c.251+8427C>G c.1087C>G (p.Pro363Ala) c.*1094C>G (n.*1094C>G) c.943C>G (p.Pro315Ala) c.1051C>G (p.Pro351Ala) c.*141C>G (n.*141C>G) c.1006C>G (p.Pro336Ala) | |
17 | g.6425492G= | CA2245346524 | AIPL1 | c.1123C= (p.Pro375=) c.934C= (p.Pro312=) c.*995C= (n.*995C=) c.1057C= (p.Pro353=) c.251+8427C= c.1087C= (p.Pro363=) c.*1094C= (n.*1094C=) c.943C= (p.Pro315=) c.1051C= (p.Pro351=) c.*141C= (n.*141C=) c.1006C= (p.Pro336=) | |
17 | g.6425492G>T | CA397394220 | AIPL1 | c.1123C>A (p.Pro375Thr) c.934C>A (p.Pro312Thr) c.*995C>A (n.*995C>A) c.1057C>A (p.Pro353Thr) c.251+8427C>A c.1087C>A (p.Pro363Thr) c.*1094C>A (n.*1094C>A) c.943C>A (p.Pro315Thr) c.1051C>A (p.Pro351Thr) c.*141C>A (n.*141C>A) c.1006C>A (p.Pro336Thr) | ClinVar gnomAD v4 |
17 | g.6425493T>A | CA497687284 | AIPL1 | c.1122A>T (p.Pro374=) c.933A>T (p.Pro311=) c.*994A>T (n.*994A>T) c.1056A>T (p.Pro352=) c.251+8426A>T c.1086A>T (p.Pro362=) c.*1093A>T (n.*1093A>T) c.942A>T (p.Pro314=) c.1050A>T (p.Pro350=) c.*140A>T (n.*140A>T) c.1005A>T (p.Pro335=) | |
17 | g.6425493T>C | CA497687285 | AIPL1 | c.1122A>G (p.Pro374=) c.933A>G (p.Pro311=) c.*994A>G (n.*994A>G) c.1056A>G (p.Pro352=) c.251+8426A>G c.1086A>G (p.Pro362=) c.*1093A>G (n.*1093A>G) c.942A>G (p.Pro314=) c.1050A>G (p.Pro350=) c.*140A>G (n.*140A>G) c.1005A>G (p.Pro335=) | |
17 | g.6425493T>G | CA497687286 | AIPL1 | c.1122A>C (p.Pro374=) c.933A>C (p.Pro311=) c.*994A>C (n.*994A>C) c.1056A>C (p.Pro352=) c.251+8426A>C c.1086A>C (p.Pro362=) c.*1093A>C (n.*1093A>C) c.942A>C (p.Pro314=) c.1050A>C (p.Pro350=) c.*140A>C (n.*140A>C) c.1005A>C (p.Pro335=) | |
17 | g.6425501_6425512dup | CA8328307 | AIPL1 | c.1111_1122dup (p.Pro374_Pro375insAlaThrGluPro) c.922_933dup (p.Pro311_Pro312insAlaThrGluPro) c.*983_*994dup (n.*983_*994dup) c.1045_1056dup (p.Pro352_Pro353insAlaThrGluPro) c.251+8415_251+8426dup c.1075_1086dup (p.Pro362_Pro363insAlaThrGluPro) c.*1082_*1093dup (n.*1082_*1093dup) c.931_942dup (p.Pro314_Pro315insAlaThrGluPro) c.1039_1050dup (p.Pro350_Pro351insAlaThrGluPro) c.*129_*140dup (n.*129_*140dup) c.994_1005dup (p.Pro335_Pro336insAlaThrGluPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425494G>A | CA397394221 | AIPL1 | c.1121C>T (p.Pro374Leu) c.932C>T (p.Pro311Leu) c.*993C>T (n.*993C>T) c.1055C>T (p.Pro352Leu) c.251+8425C>T c.1085C>T (p.Pro362Leu) c.*1092C>T (n.*1092C>T) c.941C>T (p.Pro314Leu) c.1049C>T (p.Pro350Leu) c.*139C>T (n.*139C>T) c.1004C>T (p.Pro335Leu) | gnomAD v4 |
17 | g.6425494G>C | CA397394222 | AIPL1 | c.1121C>G (p.Pro374Arg) c.932C>G (p.Pro311Arg) c.*993C>G (n.*993C>G) c.1055C>G (p.Pro352Arg) c.251+8425C>G c.1085C>G (p.Pro362Arg) c.*1092C>G (n.*1092C>G) c.941C>G (p.Pro314Arg) c.1049C>G (p.Pro350Arg) c.*139C>G (n.*139C>G) c.1004C>G (p.Pro335Arg) | |
17 | g.6425494G>T | CA397394223 | AIPL1 | c.1121C>A (p.Pro374Gln) c.932C>A (p.Pro311Gln) c.*993C>A (n.*993C>A) c.1055C>A (p.Pro352Gln) c.251+8425C>A c.1085C>A (p.Pro362Gln) c.*1092C>A (n.*1092C>A) c.941C>A (p.Pro314Gln) c.1049C>A (p.Pro350Gln) c.*139C>A (n.*139C>A) c.1004C>A (p.Pro335Gln) | gnomAD v4 |
17 | g.6425495G>A | CA397394224 | AIPL1 | c.1120C>T (p.Pro374Ser) c.931C>T (p.Pro311Ser) c.*992C>T (n.*992C>T) c.1054C>T (p.Pro352Ser) c.251+8424C>T c.1084C>T (p.Pro362Ser) c.*1091C>T (n.*1091C>T) c.940C>T (p.Pro314Ser) c.1048C>T (p.Pro350Ser) c.*138C>T (n.*138C>T) c.1003C>T (p.Pro335Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425495G>C | CA397394225 | AIPL1 | c.1120C>G (p.Pro374Ala) c.931C>G (p.Pro311Ala) c.*992C>G (n.*992C>G) c.1054C>G (p.Pro352Ala) c.251+8424C>G c.1084C>G (p.Pro362Ala) c.*1091C>G (n.*1091C>G) c.940C>G (p.Pro314Ala) c.1048C>G (p.Pro350Ala) c.*138C>G (n.*138C>G) c.1003C>G (p.Pro335Ala) | |
17 | g.6425495G= | CA2245346531 | AIPL1 | c.1120C= (p.Pro374=) c.931C= (p.Pro311=) c.*992C= (n.*992C=) c.1054C= (p.Pro352=) c.251+8424C= c.1084C= (p.Pro362=) c.*1091C= (n.*1091C=) c.940C= (p.Pro314=) c.1048C= (p.Pro350=) c.*138C= (n.*138C=) c.1003C= (p.Pro335=) | |
17 | g.6425495G>T | CA397394226 | AIPL1 | c.1120C>A (p.Pro374Thr) c.931C>A (p.Pro311Thr) c.*992C>A (n.*992C>A) c.1054C>A (p.Pro352Thr) c.251+8424C>A c.1084C>A (p.Pro362Thr) c.*1091C>A (n.*1091C>A) c.940C>A (p.Pro314Thr) c.1048C>A (p.Pro350Thr) c.*138C>A (n.*138C>A) c.1003C>A (p.Pro335Thr) | gnomAD v4 |
17 | g.6425496C>A | CA397394227 | AIPL1 | c.1119G>T (p.Glu373Asp) c.930G>T (p.Glu310Asp) c.*991G>T (n.*991G>T) c.1053G>T (p.Glu351Asp) c.251+8423G>T c.1083G>T (p.Glu361Asp) c.*1090G>T (n.*1090G>T) c.939G>T (p.Glu313Asp) c.1047G>T (p.Glu349Asp) c.*137G>T (n.*137G>T) c.1002G>T (p.Glu334Asp) | gnomAD v4 |
17 | g.6425496C>G | CA397394228 | AIPL1 | c.1119G>C (p.Glu373Asp) c.930G>C (p.Glu310Asp) c.*991G>C (n.*991G>C) c.1053G>C (p.Glu351Asp) c.251+8423G>C c.1083G>C (p.Glu361Asp) c.*1090G>C (n.*1090G>C) c.939G>C (p.Glu313Asp) c.1047G>C (p.Glu349Asp) c.*137G>C (n.*137G>C) c.1002G>C (p.Glu334Asp) | |
17 | g.6425496C>T | CA497687287 | AIPL1 | c.1119G>A (p.Glu373=) c.930G>A (p.Glu310=) c.*991G>A (n.*991G>A) c.1053G>A (p.Glu351=) c.251+8423G>A c.1083G>A (p.Glu361=) c.*1090G>A (n.*1090G>A) c.939G>A (p.Glu313=) c.1047G>A (p.Glu349=) c.*137G>A (n.*137G>A) c.1002G>A (p.Glu334=) | gnomAD v4 |
17 | g.6425497T>A | CA397394229 | AIPL1 | c.1118A>T (p.Glu373Val) c.929A>T (p.Glu310Val) c.*990A>T (n.*990A>T) c.1052A>T (p.Glu351Val) c.251+8422A>T c.1082A>T (p.Glu361Val) c.*1089A>T (n.*1089A>T) c.938A>T (p.Glu313Val) c.1046A>T (p.Glu349Val) c.*136A>T (n.*136A>T) c.1001A>T (p.Glu334Val) | gnomAD v4 |
17 | g.6425497T>C | CA397394230 | AIPL1 | c.1118A>G (p.Glu373Gly) c.929A>G (p.Glu310Gly) c.*990A>G (n.*990A>G) c.1052A>G (p.Glu351Gly) c.251+8422A>G c.1082A>G (p.Glu361Gly) c.*1089A>G (n.*1089A>G) c.938A>G (p.Glu313Gly) c.1046A>G (p.Glu349Gly) c.*136A>G (n.*136A>G) c.1001A>G (p.Glu334Gly) | |
17 | g.6425497T>G | CA397394231 | AIPL1 | c.1118A>C (p.Glu373Ala) c.929A>C (p.Glu310Ala) c.*990A>C (n.*990A>C) c.1052A>C (p.Glu351Ala) c.251+8422A>C c.1082A>C (p.Glu361Ala) c.*1089A>C (n.*1089A>C) c.938A>C (p.Glu313Ala) c.1046A>C (p.Glu349Ala) c.*136A>C (n.*136A>C) c.1001A>C (p.Glu334Ala) | |
17 | g.6425498C>A | CA397394232 | AIPL1 | c.1117G>T (p.Glu373Ter) c.928G>T (p.Glu310Ter) c.*989G>T (n.*989G>T) c.1051G>T (p.Glu351Ter) c.251+8421G>T c.1081G>T (p.Glu361Ter) c.*1088G>T (n.*1088G>T) c.937G>T (p.Glu313Ter) c.1045G>T (p.Glu349Ter) c.*135G>T (n.*135G>T) c.1000G>T (p.Glu334Ter) | |
17 | g.6425498C>G | CA397394233 | AIPL1 | c.1117G>C (p.Glu373Gln) c.928G>C (p.Glu310Gln) c.*989G>C (n.*989G>C) c.1051G>C (p.Glu351Gln) c.251+8421G>C c.1081G>C (p.Glu361Gln) c.*1088G>C (n.*1088G>C) c.937G>C (p.Glu313Gln) c.1045G>C (p.Glu349Gln) c.*135G>C (n.*135G>C) c.1000G>C (p.Glu334Gln) | |
17 | g.6425498C>T | CA397394234 | AIPL1 | c.1117G>A (p.Glu373Lys) c.928G>A (p.Glu310Lys) c.*989G>A (n.*989G>A) c.1051G>A (p.Glu351Lys) c.251+8421G>A c.1081G>A (p.Glu361Lys) c.*1088G>A (n.*1088G>A) c.937G>A (p.Glu313Lys) c.1045G>A (p.Glu349Lys) c.*135G>A (n.*135G>A) c.1000G>A (p.Glu334Lys) | |
17 | g.6425499T>A | CA497687288 | AIPL1 | c.1116A>T (p.Thr372=) c.927A>T (p.Thr309=) c.*988A>T (n.*988A>T) c.1050A>T (p.Thr350=) c.251+8420A>T c.1080A>T (p.Thr360=) c.*1087A>T (n.*1087A>T) c.936A>T (p.Thr312=) c.1044A>T (p.Thr348=) c.*134A>T (n.*134A>T) c.999A>T (p.Thr333=) | |
17 | g.6425499T>C | CA497687289 | AIPL1 | c.1116A>G (p.Thr372=) c.927A>G (p.Thr309=) c.*988A>G (n.*988A>G) c.1050A>G (p.Thr350=) c.251+8420A>G c.1080A>G (p.Thr360=) c.*1087A>G (n.*1087A>G) c.936A>G (p.Thr312=) c.1044A>G (p.Thr348=) c.*134A>G (n.*134A>G) c.999A>G (p.Thr333=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425499T>G | CA497687290 | AIPL1 | c.1116A>C (p.Thr372=) c.927A>C (p.Thr309=) c.*988A>C (n.*988A>C) c.1050A>C (p.Thr350=) c.251+8420A>C c.1080A>C (p.Thr360=) c.*1087A>C (n.*1087A>C) c.936A>C (p.Thr312=) c.1044A>C (p.Thr348=) c.*134A>C (n.*134A>C) c.999A>C (p.Thr333=) | ClinVar |
17 | g.6425499T= | CA2245346534 | AIPL1 | c.1116A= (p.Thr372=) c.927A= (p.Thr309=) c.*988A= (n.*988A=) c.1050A= (p.Thr350=) c.251+8420A= c.1080A= (p.Thr360=) c.*1087A= (n.*1087A=) c.936A= (p.Thr312=) c.1044A= (p.Thr348=) c.*134A= (n.*134A=) c.999A= (p.Thr333=) | |
17 | g.6425501_6425502dup | CA2635688833 | AIPL1 | c.1115_1116dup (p.Glu373GlnfsTer?) c.926_927dup (p.Glu310GlnfsTer?) c.*987_*988dup (n.*987_*988dup) c.1049_1050dup (p.Glu351GlnfsTer?) c.251+8419_251+8420dup c.1079_1080dup (p.Glu361GlnfsTer?) c.*1086_*1087dup (n.*1086_*1087dup) c.935_936dup (p.Glu313GlnfsTer?) c.1043_1044dup (p.Glu349GlnfsTer?) c.*133_*134dup (n.*133_*134dup) c.998_999dup (p.Glu334GlnfsTer?) | gnomAD v4 |
17 | g.6425500G>A | CA397394237 | AIPL1 | c.1115C>T (p.Thr372Ile) c.926C>T (p.Thr309Ile) c.*987C>T (n.*987C>T) c.1049C>T (p.Thr350Ile) c.251+8419C>T c.1079C>T (p.Thr360Ile) c.*1086C>T (n.*1086C>T) c.935C>T (p.Thr312Ile) c.1043C>T (p.Thr348Ile) c.*133C>T (n.*133C>T) c.998C>T (p.Thr333Ile) | gnomAD v4 |
17 | g.6425500G>C | CA397394236 | AIPL1 | c.1115C>G (p.Thr372Arg) c.926C>G (p.Thr309Arg) c.*987C>G (n.*987C>G) c.1049C>G (p.Thr350Arg) c.251+8419C>G c.1079C>G (p.Thr360Arg) c.*1086C>G (n.*1086C>G) c.935C>G (p.Thr312Arg) c.1043C>G (p.Thr348Arg) c.*133C>G (n.*133C>G) c.998C>G (p.Thr333Arg) | |
17 | g.6425500G>T | CA397394235 | AIPL1 | c.1115C>A (p.Thr372Lys) c.926C>A (p.Thr309Lys) c.*987C>A (n.*987C>A) c.1049C>A (p.Thr350Lys) c.251+8419C>A c.1079C>A (p.Thr360Lys) c.*1086C>A (n.*1086C>A) c.935C>A (p.Thr312Lys) c.1043C>A (p.Thr348Lys) c.*133C>A (n.*133C>A) c.998C>A (p.Thr333Lys) | gnomAD v4 |
17 | g.6425501T>A | CA397394238 | AIPL1 | c.1114A>T (p.Thr372Ser) c.925A>T (p.Thr309Ser) c.*986A>T (n.*986A>T) c.1048A>T (p.Thr350Ser) c.251+8418A>T c.1078A>T (p.Thr360Ser) c.*1085A>T (n.*1085A>T) c.934A>T (p.Thr312Ser) c.1042A>T (p.Thr348Ser) c.*132A>T (n.*132A>T) c.997A>T (p.Thr333Ser) | |
17 | g.6425501T>C | CA397394239 | AIPL1 | c.1114A>G (p.Thr372Ala) c.925A>G (p.Thr309Ala) c.*986A>G (n.*986A>G) c.1048A>G (p.Thr350Ala) c.251+8418A>G c.1078A>G (p.Thr360Ala) c.*1085A>G (n.*1085A>G) c.934A>G (p.Thr312Ala) c.1042A>G (p.Thr348Ala) c.*132A>G (n.*132A>G) c.997A>G (p.Thr333Ala) | |
17 | g.6425501T>G | CA397394240 | AIPL1 | c.1114A>C (p.Thr372Pro) c.925A>C (p.Thr309Pro) c.*986A>C (n.*986A>C) c.1048A>C (p.Thr350Pro) c.251+8418A>C c.1078A>C (p.Thr360Pro) c.*1085A>C (n.*1085A>C) c.934A>C (p.Thr312Pro) c.1042A>C (p.Thr348Pro) c.*132A>C (n.*132A>C) c.997A>C (p.Thr333Pro) | |
17 | g.6425502G>A | CA497687291 | AIPL1 | c.1113C>T (p.Ala371=) c.924C>T (p.Ala308=) c.*985C>T (n.*985C>T) c.1047C>T (p.Ala349=) c.251+8417C>T c.1077C>T (p.Ala359=) c.*1084C>T (n.*1084C>T) c.933C>T (p.Ala311=) c.1041C>T (p.Ala347=) c.*131C>T (n.*131C>T) c.996C>T (p.Ala332=) | |
17 | g.6425502G>C | CA497687292 | AIPL1 | c.1113C>G (p.Ala371=) c.924C>G (p.Ala308=) c.*985C>G (n.*985C>G) c.1047C>G (p.Ala349=) c.251+8417C>G c.1077C>G (p.Ala359=) c.*1084C>G (n.*1084C>G) c.933C>G (p.Ala311=) c.1041C>G (p.Ala347=) c.*131C>G (n.*131C>G) c.996C>G (p.Ala332=) | |
17 | g.6425502G>T | CA497687293 | AIPL1 | c.1113C>A (p.Ala371=) c.924C>A (p.Ala308=) c.*985C>A (n.*985C>A) c.1047C>A (p.Ala349=) c.251+8417C>A c.1077C>A (p.Ala359=) c.*1084C>A (n.*1084C>A) c.933C>A (p.Ala311=) c.1041C>A (p.Ala347=) c.*131C>A (n.*131C>A) c.996C>A (p.Ala332=) | |
17 | g.6425502_6425513dup | CA2576142266 | AIPL1 | c.1102_1113dup (p.Ala371_Thr372insAlaGluProAla) c.913_924dup (p.Ala308_Thr309insAlaGluProAla) c.*974_*985dup (n.*974_*985dup) c.1036_1047dup (p.Ala349_Thr350insAlaGluProAla) c.251+8406_251+8417dup c.1066_1077dup (p.Ala359_Thr360insAlaGluProAla) c.*1073_*1084dup (n.*1073_*1084dup) c.922_933dup (p.Ala311_Thr312insAlaGluProAla) c.1030_1041dup (p.Ala347_Thr348insAlaGluProAla) c.*120_*131dup (n.*120_*131dup) c.985_996dup (p.Ala332_Thr333insAlaGluProAla) | |
17 | g.6425503G>A | CA397394241 | AIPL1 | c.1112C>T (p.Ala371Val) c.923C>T (p.Ala308Val) c.*984C>T (n.*984C>T) c.1046C>T (p.Ala349Val) c.251+8416C>T c.1076C>T (p.Ala359Val) c.*1083C>T (n.*1083C>T) c.932C>T (p.Ala311Val) c.1040C>T (p.Ala347Val) c.*130C>T (n.*130C>T) c.995C>T (p.Ala332Val) | gnomAD v4 |
17 | g.6425503G>C | CA8328308 | AIPL1 | c.1112C>G (p.Ala371Gly) c.923C>G (p.Ala308Gly) c.*984C>G (n.*984C>G) c.1046C>G (p.Ala349Gly) c.251+8416C>G c.1076C>G (p.Ala359Gly) c.*1083C>G (n.*1083C>G) c.932C>G (p.Ala311Gly) c.1040C>G (p.Ala347Gly) c.*130C>G (n.*130C>G) c.995C>G (p.Ala332Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425503G= | CA2245346562 | AIPL1 | c.1112C= (p.Ala371=) c.923C= (p.Ala308=) c.*984C= (n.*984C=) c.1046C= (p.Ala349=) c.251+8416C= c.1076C= (p.Ala359=) c.*1083C= (n.*1083C=) c.932C= (p.Ala311=) c.1040C= (p.Ala347=) c.*130C= (n.*130C=) c.995C= (p.Ala332=) | |
17 | g.6425503G>T | CA397394242 | AIPL1 | c.1112C>A (p.Ala371Asp) c.923C>A (p.Ala308Asp) c.*984C>A (n.*984C>A) c.1046C>A (p.Ala349Asp) c.251+8416C>A c.1076C>A (p.Ala359Asp) c.*1083C>A (n.*1083C>A) c.932C>A (p.Ala311Asp) c.1040C>A (p.Ala347Asp) c.*130C>A (n.*130C>A) c.995C>A (p.Ala332Asp) | gnomAD v4 |
17 | g.6425504C>A | CA397394243 | AIPL1 | c.1111G>T (p.Ala371Ser) c.922G>T (p.Ala308Ser) c.*983G>T (n.*983G>T) c.1045G>T (p.Ala349Ser) c.251+8415G>T c.1075G>T (p.Ala359Ser) c.*1082G>T (n.*1082G>T) c.931G>T (p.Ala311Ser) c.1039G>T (p.Ala347Ser) c.*129G>T (n.*129G>T) c.994G>T (p.Ala332Ser) | |
17 | g.6425504C= | CA2245346565 | AIPL1 | c.1111G= (p.Ala371=) c.922G= (p.Ala308=) c.*983G= (n.*983G=) c.1045G= (p.Ala349=) c.251+8415G= c.1075G= (p.Ala359=) c.*1082G= (n.*1082G=) c.931G= (p.Ala311=) c.1039G= (p.Ala347=) c.*129G= (n.*129G=) c.994G= (p.Ala332=) | |
17 | g.6425504C>G | CA397394245 | AIPL1 | c.1111G>C (p.Ala371Pro) c.922G>C (p.Ala308Pro) c.*983G>C (n.*983G>C) c.1045G>C (p.Ala349Pro) c.251+8415G>C c.1075G>C (p.Ala359Pro) c.*1082G>C (n.*1082G>C) c.931G>C (p.Ala311Pro) c.1039G>C (p.Ala347Pro) c.*129G>C (n.*129G>C) c.994G>C (p.Ala332Pro) | |
17 | g.6425504C>T | CA397394244 | AIPL1 | c.1111G>A (p.Ala371Thr) c.922G>A (p.Ala308Thr) c.*983G>A (n.*983G>A) c.1045G>A (p.Ala349Thr) c.251+8415G>A c.1075G>A (p.Ala359Thr) c.*1082G>A (n.*1082G>A) c.931G>A (p.Ala311Thr) c.1039G>A (p.Ala347Thr) c.*129G>A (n.*129G>A) c.994G>A (p.Ala332Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425505T>A | CA497687296 | AIPL1 | c.1110A>T (p.Pro370=) c.921A>T (p.Pro307=) c.*982A>T (n.*982A>T) c.1044A>T (p.Pro348=) c.251+8414A>T c.1074A>T (p.Pro358=) c.*1081A>T (n.*1081A>T) c.930A>T (p.Pro310=) c.1038A>T (p.Pro346=) c.*128A>T (n.*128A>T) c.993A>T (p.Pro331=) | |
17 | g.6425505T>C | CA497687294 | AIPL1 | c.1110A>G (p.Pro370=) c.921A>G (p.Pro307=) c.*982A>G (n.*982A>G) c.1044A>G (p.Pro348=) c.251+8414A>G c.1074A>G (p.Pro358=) c.*1081A>G (n.*1081A>G) c.930A>G (p.Pro310=) c.1038A>G (p.Pro346=) c.*128A>G (n.*128A>G) c.993A>G (p.Pro331=) | |
17 | g.6425505T>G | CA497687295 | AIPL1 | c.1110A>C (p.Pro370=) c.921A>C (p.Pro307=) c.*982A>C (n.*982A>C) c.1044A>C (p.Pro348=) c.251+8414A>C c.1074A>C (p.Pro358=) c.*1081A>C (n.*1081A>C) c.930A>C (p.Pro310=) c.1038A>C (p.Pro346=) c.*128A>C (n.*128A>C) c.993A>C (p.Pro331=) | |
17 | g.6425506G>A | CA397394246 | AIPL1 | c.1109C>T (p.Pro370Leu) c.920C>T (p.Pro307Leu) c.*981C>T (n.*981C>T) c.1043C>T (p.Pro348Leu) c.251+8413C>T c.1073C>T (p.Pro358Leu) c.*1080C>T (n.*1080C>T) c.929C>T (p.Pro310Leu) c.1037C>T (p.Pro346Leu) c.*127C>T (n.*127C>T) c.992C>T (p.Pro331Leu) | |
17 | g.6425506G>C | CA397394247 | AIPL1 | c.1109C>G (p.Pro370Arg) c.920C>G (p.Pro307Arg) c.*981C>G (n.*981C>G) c.1043C>G (p.Pro348Arg) c.251+8413C>G c.1073C>G (p.Pro358Arg) c.*1080C>G (n.*1080C>G) c.929C>G (p.Pro310Arg) c.1037C>G (p.Pro346Arg) c.*127C>G (n.*127C>G) c.992C>G (p.Pro331Arg) | |
17 | g.6425506G>T | CA397394248 | AIPL1 | c.1109C>A (p.Pro370Gln) c.920C>A (p.Pro307Gln) c.*981C>A (n.*981C>A) c.1043C>A (p.Pro348Gln) c.251+8413C>A c.1073C>A (p.Pro358Gln) c.*1080C>A (n.*1080C>A) c.929C>A (p.Pro310Gln) c.1037C>A (p.Pro346Gln) c.*127C>A (n.*127C>A) c.992C>A (p.Pro331Gln) | |
17 | g.6425507G>A | CA8328309 | AIPL1 | c.1108C>T (p.Pro370Ser) c.919C>T (p.Pro307Ser) c.*980C>T (n.*980C>T) c.1042C>T (p.Pro348Ser) c.251+8412C>T c.1072C>T (p.Pro358Ser) c.*1079C>T (n.*1079C>T) c.928C>T (p.Pro310Ser) c.1036C>T (p.Pro346Ser) c.*126C>T (n.*126C>T) c.991C>T (p.Pro331Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425507G>C | CA397394249 | AIPL1 | c.1108C>G (p.Pro370Ala) c.919C>G (p.Pro307Ala) c.*980C>G (n.*980C>G) c.1042C>G (p.Pro348Ala) c.251+8412C>G c.1072C>G (p.Pro358Ala) c.*1079C>G (n.*1079C>G) c.928C>G (p.Pro310Ala) c.1036C>G (p.Pro346Ala) c.*126C>G (n.*126C>G) c.991C>G (p.Pro331Ala) | gnomAD v4 |
17 | g.6425507G= | CA2245346568 | AIPL1 | c.1108C= (p.Pro370=) c.919C= (p.Pro307=) c.*980C= (n.*980C=) c.1042C= (p.Pro348=) c.251+8412C= c.1072C= (p.Pro358=) c.*1079C= (n.*1079C=) c.928C= (p.Pro310=) c.1036C= (p.Pro346=) c.*126C= (n.*126C=) c.991C= (p.Pro331=) | |
17 | g.6425507G>T | CA397394250 | AIPL1 | c.1108C>A (p.Pro370Thr) c.919C>A (p.Pro307Thr) c.*980C>A (n.*980C>A) c.1042C>A (p.Pro348Thr) c.251+8412C>A c.1072C>A (p.Pro358Thr) c.*1079C>A (n.*1079C>A) c.928C>A (p.Pro310Thr) c.1036C>A (p.Pro346Thr) c.*126C>A (n.*126C>A) c.991C>A (p.Pro331Thr) | gnomAD v4 |
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.6425508C>A | CA397394251 | AIPL1 | c.1107G>T (p.Glu369Asp) c.918G>T (p.Glu306Asp) c.*979G>T (n.*979G>T) c.1041G>T (p.Glu347Asp) c.251+8411G>T c.1071G>T (p.Glu357Asp) c.*1078G>T (n.*1078G>T) c.927G>T (p.Glu309Asp) c.1035G>T (p.Glu345Asp) c.*125G>T (n.*125G>T) c.990G>T (p.Glu330Asp) | |
17 | g.6425508C= | CA2245346574 | AIPL1 | c.1107G= (p.Glu369=) c.918G= (p.Glu306=) c.*979G= (n.*979G=) c.1041G= (p.Glu347=) c.251+8411G= c.1071G= (p.Glu357=) c.*1078G= (n.*1078G=) c.927G= (p.Glu309=) c.1035G= (p.Glu345=) c.*125G= (n.*125G=) c.990G= (p.Glu330=) | |
17 | g.6425508C>G | CA8328310 | AIPL1 | c.1107G>C (p.Glu369Asp) c.918G>C (p.Glu306Asp) c.*979G>C (n.*979G>C) c.1041G>C (p.Glu347Asp) c.251+8411G>C c.1071G>C (p.Glu357Asp) c.*1078G>C (n.*1078G>C) c.927G>C (p.Glu309Asp) c.1035G>C (p.Glu345Asp) c.*125G>C (n.*125G>C) c.990G>C (p.Glu330Asp) | dbSNP ExAC |
17 | g.6425508C>T | CA497687297 | AIPL1 | c.1107G>A (p.Glu369=) c.918G>A (p.Glu306=) c.*979G>A (n.*979G>A) c.1041G>A (p.Glu347=) c.251+8411G>A c.1071G>A (p.Glu357=) c.*1078G>A (n.*1078G>A) c.927G>A (p.Glu309=) c.1035G>A (p.Glu345=) c.*125G>A (n.*125G>A) c.990G>A (p.Glu330=) | gnomAD v4 |
17 | g.6425509T>A | CA397394252 | AIPL1 | c.1106A>T (p.Glu369Val) c.917A>T (p.Glu306Val) c.*978A>T (n.*978A>T) c.1040A>T (p.Glu347Val) c.251+8410A>T c.1070A>T (p.Glu357Val) c.*1077A>T (n.*1077A>T) c.926A>T (p.Glu309Val) c.1034A>T (p.Glu345Val) c.*124A>T (n.*124A>T) c.989A>T (p.Glu330Val) | |
17 | g.6425509T>C | CA397394253 | AIPL1 | c.1106A>G (p.Glu369Gly) c.917A>G (p.Glu306Gly) c.*978A>G (n.*978A>G) c.1040A>G (p.Glu347Gly) c.251+8410A>G c.1070A>G (p.Glu357Gly) c.*1077A>G (n.*1077A>G) c.926A>G (p.Glu309Gly) c.1034A>G (p.Glu345Gly) c.*124A>G (n.*124A>G) c.989A>G (p.Glu330Gly) | gnomAD v4 |
17 | g.6425509T>G | CA397394254 | AIPL1 | c.1106A>C (p.Glu369Ala) c.917A>C (p.Glu306Ala) c.*978A>C (n.*978A>C) c.1040A>C (p.Glu347Ala) c.251+8410A>C c.1070A>C (p.Glu357Ala) c.*1077A>C (n.*1077A>C) c.926A>C (p.Glu309Ala) c.1034A>C (p.Glu345Ala) c.*124A>C (n.*124A>C) c.989A>C (p.Glu330Ala) | |
17 | g.6425510C>A | CA397394255 | AIPL1 | c.1105G>T (p.Glu369Ter) c.916G>T (p.Glu306Ter) c.*977G>T (n.*977G>T) c.1039G>T (p.Glu347Ter) c.251+8409G>T c.1069G>T (p.Glu357Ter) c.*1076G>T (n.*1076G>T) c.925G>T (p.Glu309Ter) c.1033G>T (p.Glu345Ter) c.*123G>T (n.*123G>T) c.988G>T (p.Glu330Ter) | COSMIC |
17 | g.6425510C>G | CA397394257 | AIPL1 | c.1105G>C (p.Glu369Gln) c.916G>C (p.Glu306Gln) c.*977G>C (n.*977G>C) c.1039G>C (p.Glu347Gln) c.251+8409G>C c.1069G>C (p.Glu357Gln) c.*1076G>C (n.*1076G>C) c.925G>C (p.Glu309Gln) c.1033G>C (p.Glu345Gln) c.*123G>C (n.*123G>C) c.988G>C (p.Glu330Gln) | |
17 | g.6425510C>T | CA397394256 | AIPL1 | c.1105G>A (p.Glu369Lys) c.916G>A (p.Glu306Lys) c.*977G>A (n.*977G>A) c.1039G>A (p.Glu347Lys) c.251+8409G>A c.1069G>A (p.Glu357Lys) c.*1076G>A (n.*1076G>A) c.925G>A (p.Glu309Lys) c.1033G>A (p.Glu345Lys) c.*123G>A (n.*123G>A) c.988G>A (p.Glu330Lys) | |
17 | g.6425511T>A | CA497687300 | AIPL1 | c.1104A>T (p.Ala368=) c.915A>T (p.Ala305=) c.*976A>T (n.*976A>T) c.1038A>T (p.Ala346=) c.251+8408A>T c.1068A>T (p.Ala356=) c.*1075A>T (n.*1075A>T) c.924A>T (p.Ala308=) c.1032A>T (p.Ala344=) c.*122A>T (n.*122A>T) c.987A>T (p.Ala329=) | gnomAD v4 |
17 | g.6425511T>C | CA497687298 | AIPL1 | c.1104A>G (p.Ala368=) c.915A>G (p.Ala305=) c.*976A>G (n.*976A>G) c.1038A>G (p.Ala346=) c.251+8408A>G c.1068A>G (p.Ala356=) c.*1075A>G (n.*1075A>G) c.924A>G (p.Ala308=) c.1032A>G (p.Ala344=) c.*122A>G (n.*122A>G) c.987A>G (p.Ala329=) | |
17 | g.6425511T>G | CA497687299 | AIPL1 | c.1104A>C (p.Ala368=) c.915A>C (p.Ala305=) c.*976A>C (n.*976A>C) c.1038A>C (p.Ala346=) c.251+8408A>C c.1068A>C (p.Ala356=) c.*1075A>C (n.*1075A>C) c.924A>C (p.Ala308=) c.1032A>C (p.Ala344=) c.*122A>C (n.*122A>C) c.987A>C (p.Ala329=) | |
17 | g.6425512G>A | CA397394258 | AIPL1 | c.1103C>T (p.Ala368Val) c.914C>T (p.Ala305Val) c.*975C>T (n.*975C>T) c.1037C>T (p.Ala346Val) c.251+8407C>T c.1067C>T (p.Ala356Val) c.*1074C>T (n.*1074C>T) c.923C>T (p.Ala308Val) c.1031C>T (p.Ala344Val) c.*121C>T (n.*121C>T) c.986C>T (p.Ala329Val) | gnomAD v4 |
17 | g.6425512G>C | CA397394260 | AIPL1 | c.1103C>G (p.Ala368Gly) c.914C>G (p.Ala305Gly) c.*975C>G (n.*975C>G) c.1037C>G (p.Ala346Gly) c.251+8407C>G c.1067C>G (p.Ala356Gly) c.*1074C>G (n.*1074C>G) c.923C>G (p.Ala308Gly) c.1031C>G (p.Ala344Gly) c.*121C>G (n.*121C>G) c.986C>G (p.Ala329Gly) | gnomAD v4 |
17 | g.6425512G= | CA2245346577 | AIPL1 | c.1103C= (p.Ala368=) c.914C= (p.Ala305=) c.*975C= (n.*975C=) c.1037C= (p.Ala346=) c.251+8407C= c.1067C= (p.Ala356=) c.*1074C= (n.*1074C=) c.923C= (p.Ala308=) c.1031C= (p.Ala344=) c.*121C= (n.*121C=) c.986C= (p.Ala329=) | |
17 | g.6425512G>T | CA397394259 | AIPL1 | c.1103C>A (p.Ala368Glu) c.914C>A (p.Ala305Glu) c.*975C>A (n.*975C>A) c.1037C>A (p.Ala346Glu) c.251+8407C>A c.1067C>A (p.Ala356Glu) c.*1074C>A (n.*1074C>A) c.923C>A (p.Ala308Glu) c.1031C>A (p.Ala344Glu) c.*121C>A (n.*121C>A) c.986C>A (p.Ala329Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425513_6425514insGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGC | CA2635688835 | AIPL1 | c.1103_1104insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu369AlafsTer5) c.914_915insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu306AlafsTer5) c.*975_*976insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (n.*975_*976insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC) c.1037_1038insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu347AlafsTer5) c.251+8407_251+8408insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC c.1067_1068insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu357AlafsTer5) c.*1074_*1075insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (n.*1074_*1075insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC) c.923_924insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu309AlafsTer5) c.1031_1032insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu345AlafsTer5) c.*121_*122insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (n.*121_*122insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC) c.986_987insTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGC (p.Glu330AlafsTer5) | gnomAD v4 |
17 | g.6425513C>A | CA397394261 | AIPL1 | c.1102G>T (p.Ala368Ser) c.913G>T (p.Ala305Ser) c.*974G>T (n.*974G>T) c.1036G>T (p.Ala346Ser) c.251+8406G>T c.1066G>T (p.Ala356Ser) c.*1073G>T (n.*1073G>T) c.922G>T (p.Ala308Ser) c.1030G>T (p.Ala344Ser) c.*120G>T (n.*120G>T) c.985G>T (p.Ala329Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425513C= | CA2245346579 | AIPL1 | c.1102G= (p.Ala368=) c.913G= (p.Ala305=) c.*974G= (n.*974G=) c.1036G= (p.Ala346=) c.251+8406G= c.1066G= (p.Ala356=) c.*1073G= (n.*1073G=) c.922G= (p.Ala308=) c.1030G= (p.Ala344=) c.*120G= (n.*120G=) c.985G= (p.Ala329=) | |
17 | g.6425513C>G | CA397394262 | AIPL1 | c.1102G>C (p.Ala368Pro) c.913G>C (p.Ala305Pro) c.*974G>C (n.*974G>C) c.1036G>C (p.Ala346Pro) c.251+8406G>C c.1066G>C (p.Ala356Pro) c.*1073G>C (n.*1073G>C) c.922G>C (p.Ala308Pro) c.1030G>C (p.Ala344Pro) c.*120G>C (n.*120G>C) c.985G>C (p.Ala329Pro) | |
17 | g.6425513C>T | CA8328311 | AIPL1 | c.1102G>A (p.Ala368Thr) c.913G>A (p.Ala305Thr) c.*974G>A (n.*974G>A) c.1036G>A (p.Ala346Thr) c.251+8406G>A c.1066G>A (p.Ala356Thr) c.*1073G>A (n.*1073G>A) c.922G>A (p.Ala308Thr) c.1030G>A (p.Ala344Thr) c.*120G>A (n.*120G>A) c.985G>A (p.Ala329Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.6425569dup | CA2838285451 | AIPL1 | c.1046dup (p.Pro350AlafsTer?) c.857dup (p.Pro287AlafsTer?) c.*918dup (n.*918dup) c.980dup (p.Pro328AlafsTer?) c.251+8350dup c.1010dup (p.Pro338AlafsTer?) c.*1017dup (n.*1017dup) c.866dup (p.Pro290AlafsTer?) c.974dup (p.Pro326AlafsTer?) c.*64dup (n.*64dup) c.929dup (p.Pro311AlafsTer?) | |
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) |