UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |