| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 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 |