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