| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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.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) | |
| 17 | g.6425578G>A | CA397394383 | AIPL1 | c.1037C>T (p.Ser346Leu) c.848C>T (p.Ser283Leu) c.*909C>T (n.*909C>T) c.971C>T (p.Ser324Leu) c.251+8341C>T c.1001C>T (p.Ser334Leu) c.*1008C>T (n.*1008C>T) c.857C>T (p.Ser286Leu) c.965C>T (p.Ser322Leu) c.*55C>T (n.*55C>T) c.920C>T (p.Ser307Leu) | |
| 17 | g.6425578G>C | CA397394384 | AIPL1 | c.1037C>G (p.Ser346Ter) c.848C>G (p.Ser283Ter) c.*909C>G (n.*909C>G) c.971C>G (p.Ser324Ter) c.251+8341C>G c.1001C>G (p.Ser334Ter) c.*1008C>G (n.*1008C>G) c.857C>G (p.Ser286Ter) c.965C>G (p.Ser322Ter) c.*55C>G (n.*55C>G) c.920C>G (p.Ser307Ter) | |
| 17 | g.6425578G>T | CA397394385 | AIPL1 | c.1037C>A (p.Ser346Ter) c.848C>A (p.Ser283Ter) c.*909C>A (n.*909C>A) c.971C>A (p.Ser324Ter) c.251+8341C>A c.1001C>A (p.Ser334Ter) c.*1008C>A (n.*1008C>A) c.857C>A (p.Ser286Ter) c.965C>A (p.Ser322Ter) c.*55C>A (n.*55C>A) c.920C>A (p.Ser307Ter) | |
| 17 | g.6425579A= | CA2245346734 | AIPL1 | c.1036T= (p.Ser346=) c.847T= (p.Ser283=) c.*908T= (n.*908T=) c.970T= (p.Ser324=) c.251+8340T= c.1000T= (p.Ser334=) c.*1007T= (n.*1007T=) c.856T= (p.Ser286=) c.964T= (p.Ser322=) c.*54T= (n.*54T=) c.919T= (p.Ser307=) | |
| 17 | g.6425579A>C | CA397394386 | AIPL1 | c.1036T>G (p.Ser346Ala) c.847T>G (p.Ser283Ala) c.*908T>G (n.*908T>G) c.970T>G (p.Ser324Ala) c.251+8340T>G c.1000T>G (p.Ser334Ala) c.*1007T>G (n.*1007T>G) c.856T>G (p.Ser286Ala) c.964T>G (p.Ser322Ala) c.*54T>G (n.*54T>G) c.919T>G (p.Ser307Ala) | |
| 17 | g.6425579A>G | CA8328325 | AIPL1 | c.1036T>C (p.Ser346Pro) c.847T>C (p.Ser283Pro) c.*908T>C (n.*908T>C) c.970T>C (p.Ser324Pro) c.251+8340T>C c.1000T>C (p.Ser334Pro) c.*1007T>C (n.*1007T>C) c.856T>C (p.Ser286Pro) c.964T>C (p.Ser322Pro) c.*54T>C (n.*54T>C) c.919T>C (p.Ser307Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425579A>T | CA397394387 | AIPL1 | c.1036T>A (p.Ser346Thr) c.847T>A (p.Ser283Thr) c.*908T>A (n.*908T>A) c.970T>A (p.Ser324Thr) c.251+8340T>A c.1000T>A (p.Ser334Thr) c.*1007T>A (n.*1007T>A) c.856T>A (p.Ser286Thr) c.964T>A (p.Ser322Thr) c.*54T>A (n.*54T>A) c.919T>A (p.Ser307Thr) | |
| 17 | g.6425580C>A | CA397394388 | AIPL1 | c.1035G>T (p.Gln345His) c.846G>T (p.Gln282His) c.*907G>T (n.*907G>T) c.969G>T (p.Gln323His) c.251+8339G>T c.999G>T (p.Gln333His) c.*1006G>T (n.*1006G>T) c.855G>T (p.Gln285His) c.963G>T (p.Gln321His) c.*53G>T (n.*53G>T) c.918G>T (p.Gln306His) | |
| 17 | g.6425580C>G | CA397394389 | AIPL1 | c.1035G>C (p.Gln345His) c.846G>C (p.Gln282His) c.*907G>C (n.*907G>C) c.969G>C (p.Gln323His) c.251+8339G>C c.999G>C (p.Gln333His) c.*1006G>C (n.*1006G>C) c.855G>C (p.Gln285His) c.963G>C (p.Gln321His) c.*53G>C (n.*53G>C) c.918G>C (p.Gln306His) | |
| 17 | g.6425580C>T | CA497687359 | AIPL1 | c.1035G>A (p.Gln345=) c.846G>A (p.Gln282=) c.*907G>A (n.*907G>A) c.969G>A (p.Gln323=) c.251+8339G>A c.999G>A (p.Gln333=) c.*1006G>A (n.*1006G>A) c.855G>A (p.Gln285=) c.963G>A (p.Gln321=) c.*53G>A (n.*53G>A) c.918G>A (p.Gln306=) | gnomAD v4 |
| 17 | g.6425581T>A | CA397394390 | AIPL1 | c.1034A>T (p.Gln345Leu) c.845A>T (p.Gln282Leu) c.*906A>T (n.*906A>T) c.968A>T (p.Gln323Leu) c.251+8338A>T c.998A>T (p.Gln333Leu) c.*1005A>T (n.*1005A>T) c.854A>T (p.Gln285Leu) c.962A>T (p.Gln321Leu) c.*52A>T (n.*52A>T) c.917A>T (p.Gln306Leu) | |
| 17 | g.6425581T>C | CA397394392 | AIPL1 | c.1034A>G (p.Gln345Arg) c.845A>G (p.Gln282Arg) c.*906A>G (n.*906A>G) c.968A>G (p.Gln323Arg) c.251+8338A>G c.998A>G (p.Gln333Arg) c.*1005A>G (n.*1005A>G) c.854A>G (p.Gln285Arg) c.962A>G (p.Gln321Arg) c.*52A>G (n.*52A>G) c.917A>G (p.Gln306Arg) |