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.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.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.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.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) | |
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) | |
17 | g.6425581T>G | CA397394391 | AIPL1 | c.1034A>C (p.Gln345Pro) c.845A>C (p.Gln282Pro) c.*906A>C (n.*906A>C) c.968A>C (p.Gln323Pro) c.251+8338A>C c.998A>C (p.Gln333Pro) c.*1005A>C (n.*1005A>C) c.854A>C (p.Gln285Pro) c.962A>C (p.Gln321Pro) c.*52A>C (n.*52A>C) c.917A>C (p.Gln306Pro) | |
17 | g.6425582G>A | CA397394393 | AIPL1 | c.1033C>T (p.Gln345Ter) c.844C>T (p.Gln282Ter) c.*905C>T (n.*905C>T) c.967C>T (p.Gln323Ter) c.251+8337C>T c.997C>T (p.Gln333Ter) c.*1004C>T (n.*1004C>T) c.853C>T (p.Gln285Ter) c.961C>T (p.Gln321Ter) c.*51C>T (n.*51C>T) c.916C>T (p.Gln306Ter) | gnomAD v4 |
17 | g.6425582G>C | CA397394394 | AIPL1 | c.1033C>G (p.Gln345Glu) c.844C>G (p.Gln282Glu) c.*905C>G (n.*905C>G) c.967C>G (p.Gln323Glu) c.251+8337C>G c.997C>G (p.Gln333Glu) c.*1004C>G (n.*1004C>G) c.853C>G (p.Gln285Glu) c.961C>G (p.Gln321Glu) c.*51C>G (n.*51C>G) c.916C>G (p.Gln306Glu) | gnomAD v4 |
17 | g.6425582G>T | CA397394395 | AIPL1 | c.1033C>A (p.Gln345Lys) c.844C>A (p.Gln282Lys) c.*905C>A (n.*905C>A) c.967C>A (p.Gln323Lys) c.251+8337C>A c.997C>A (p.Gln333Lys) c.*1004C>A (n.*1004C>A) c.853C>A (p.Gln285Lys) c.961C>A (p.Gln321Lys) c.*51C>A (n.*51C>A) c.916C>A (p.Gln306Lys) | |
17 | g.6425583T>A | CA497687360 | AIPL1 | c.1032A>T (p.Ala344=) c.843A>T (p.Ala281=) c.*904A>T (n.*904A>T) c.966A>T (p.Ala322=) c.251+8336A>T c.996A>T (p.Ala332=) c.*1003A>T (n.*1003A>T) c.852A>T (p.Ala284=) c.960A>T (p.Ala320=) c.*50A>T (n.*50A>T) c.915A>T (p.Ala305=) | |
17 | g.6425583T>C | CA497687361 | AIPL1 | c.1032A>G (p.Ala344=) c.843A>G (p.Ala281=) c.*904A>G (n.*904A>G) c.966A>G (p.Ala322=) c.251+8336A>G c.996A>G (p.Ala332=) c.*1003A>G (n.*1003A>G) c.852A>G (p.Ala284=) c.960A>G (p.Ala320=) c.*50A>G (n.*50A>G) c.915A>G (p.Ala305=) | |
17 | g.6425583T>G | CA497687362 | AIPL1 | c.1032A>C (p.Ala344=) c.843A>C (p.Ala281=) c.*904A>C (n.*904A>C) c.966A>C (p.Ala322=) c.251+8336A>C c.996A>C (p.Ala332=) c.*1003A>C (n.*1003A>C) c.852A>C (p.Ala284=) c.960A>C (p.Ala320=) c.*50A>C (n.*50A>C) c.915A>C (p.Ala305=) | |
17 | g.6425584G>A | CA397394396 | AIPL1 | c.1031C>T (p.Ala344Val) c.842C>T (p.Ala281Val) c.*903C>T (n.*903C>T) c.965C>T (p.Ala322Val) c.251+8335C>T c.995C>T (p.Ala332Val) c.*1002C>T (n.*1002C>T) c.851C>T (p.Ala284Val) c.959C>T (p.Ala320Val) c.*49C>T (n.*49C>T) c.914C>T (p.Ala305Val) | gnomAD v4 |
17 | g.6425584G>C | CA397394397 | AIPL1 | c.1031C>G (p.Ala344Gly) c.842C>G (p.Ala281Gly) c.*903C>G (n.*903C>G) c.965C>G (p.Ala322Gly) c.251+8335C>G c.995C>G (p.Ala332Gly) c.*1002C>G (n.*1002C>G) c.851C>G (p.Ala284Gly) c.959C>G (p.Ala320Gly) c.*49C>G (n.*49C>G) c.914C>G (p.Ala305Gly) | dbSNP |
17 | g.6425584G= | CA2245346738 | AIPL1 | c.1031C= (p.Ala344=) c.842C= (p.Ala281=) c.*903C= (n.*903C=) c.965C= (p.Ala322=) c.251+8335C= c.995C= (p.Ala332=) c.*1002C= (n.*1002C=) c.851C= (p.Ala284=) c.959C= (p.Ala320=) c.*49C= (n.*49C=) c.914C= (p.Ala305=) | |
17 | g.6425584G>T | CA397394398 | AIPL1 | c.1031C>A (p.Ala344Glu) c.842C>A (p.Ala281Glu) c.*903C>A (n.*903C>A) c.965C>A (p.Ala322Glu) c.251+8335C>A c.995C>A (p.Ala332Glu) c.*1002C>A (n.*1002C>A) c.851C>A (p.Ala284Glu) c.959C>A (p.Ala320Glu) c.*49C>A (n.*49C>A) c.914C>A (p.Ala305Glu) | gnomAD v4 |
17 | g.6425585C>A | CA8328326 | AIPL1 | c.1030G>T (p.Ala344Ser) c.841G>T (p.Ala281Ser) c.*902G>T (n.*902G>T) c.964G>T (p.Ala322Ser) c.251+8334G>T c.994G>T (p.Ala332Ser) c.*1001G>T (n.*1001G>T) c.850G>T (p.Ala284Ser) c.958G>T (p.Ala320Ser) c.*48G>T (n.*48G>T) c.913G>T (p.Ala305Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6425585C= | CA2245346743 | AIPL1 | c.1030G= (p.Ala344=) c.841G= (p.Ala281=) c.*902G= (n.*902G=) c.964G= (p.Ala322=) c.251+8334G= c.994G= (p.Ala332=) c.*1001G= (n.*1001G=) c.850G= (p.Ala284=) c.958G= (p.Ala320=) c.*48G= (n.*48G=) c.913G= (p.Ala305=) | |
17 | g.6425585C>G | CA397394399 | AIPL1 | c.1030G>C (p.Ala344Pro) c.841G>C (p.Ala281Pro) c.*902G>C (n.*902G>C) c.964G>C (p.Ala322Pro) c.251+8334G>C c.994G>C (p.Ala332Pro) c.*1001G>C (n.*1001G>C) c.850G>C (p.Ala284Pro) c.958G>C (p.Ala320Pro) c.*48G>C (n.*48G>C) c.913G>C (p.Ala305Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425585C>T | CA397394400 | AIPL1 | c.1030G>A (p.Ala344Thr) c.841G>A (p.Ala281Thr) c.*902G>A (n.*902G>A) c.964G>A (p.Ala322Thr) c.251+8334G>A c.994G>A (p.Ala332Thr) c.*1001G>A (n.*1001G>A) c.850G>A (p.Ala284Thr) c.958G>A (p.Ala320Thr) c.*48G>A (n.*48G>A) c.913G>A (p.Ala305Thr) | dbSNP gnomAD v4 COSMIC |
17 | g.6425585_6425586delinsCG | CA2245346745 | AIPL1 | c.1029_1030delinsCG (p.Pro343=) c.840_841delinsCG (p.Pro280=) c.*901_*902delinsCG (n.*901_*902delinsCG) c.963_964delinsCG (p.Pro321=) c.251+8333_251+8334delinsCG c.993_994delinsCG (p.Pro331=) c.*1000_*1001delinsCG (n.*1000_*1001delinsCG) c.849_850delinsCG (p.Pro283=) c.957_958delinsCG (p.Pro319=) c.*47_*48delinsCG (n.*47_*48delinsCG) c.912_913delinsCG (p.Pro304=) | |
17 | g.6425586G>A | CA497687363 | AIPL1 | c.1029C>T (p.Pro343=) c.840C>T (p.Pro280=) c.*901C>T (n.*901C>T) c.963C>T (p.Pro321=) c.251+8333C>T c.993C>T (p.Pro331=) c.*1000C>T (n.*1000C>T) c.849C>T (p.Pro283=) c.957C>T (p.Pro319=) c.*47C>T (n.*47C>T) c.912C>T (p.Pro304=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.6425586G>C | CA497687364 | AIPL1 | c.1029C>G (p.Pro343=) c.840C>G (p.Pro280=) c.*901C>G (n.*901C>G) c.963C>G (p.Pro321=) c.251+8333C>G c.993C>G (p.Pro331=) c.*1000C>G (n.*1000C>G) c.849C>G (p.Pro283=) c.957C>G (p.Pro319=) c.*47C>G (n.*47C>G) c.912C>G (p.Pro304=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425586G= | CA2245346748 | AIPL1 | c.1029C= (p.Pro343=) c.840C= (p.Pro280=) c.*901C= (n.*901C=) c.963C= (p.Pro321=) c.251+8333C= c.993C= (p.Pro331=) c.*1000C= (n.*1000C=) c.849C= (p.Pro283=) c.957C= (p.Pro319=) c.*47C= (n.*47C=) c.912C= (p.Pro304=) | |
17 | g.6425586G>T | CA497687365 | AIPL1 | c.1029C>A (p.Pro343=) c.840C>A (p.Pro280=) c.*901C>A (n.*901C>A) c.963C>A (p.Pro321=) c.251+8333C>A c.993C>A (p.Pro331=) c.*1000C>A (n.*1000C>A) c.849C>A (p.Pro283=) c.957C>A (p.Pro319=) c.*47C>A (n.*47C>A) c.912C>A (p.Pro304=) | gnomAD v4 |
17 | g.6425588del | CA624859140 | AIPL1 | c.1029del (p.Ala344HisfsTer?) c.840del (p.Ala281HisfsTer?) c.*901del (n.*901del) c.963del (p.Ala322HisfsTer?) c.251+8333del c.993del (p.Ala332HisfsTer?) c.*1000del (n.*1000del) c.849del (p.Ala284HisfsTer?) c.957del (p.Ala320HisfsTer?) c.*47del (n.*47del) c.912del (p.Ala305HisfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425597_6425608dup | CA2635688838 | AIPL1 | c.1018_1029dup (p.Pro343_Ala344insThrGluProPro) c.829_840dup (p.Pro280_Ala281insThrGluProPro) c.*890_*901dup (n.*890_*901dup) c.952_963dup (p.Pro321_Ala322insThrGluProPro) c.251+8322_251+8333dup c.982_993dup (p.Pro331_Ala332insThrGluProPro) c.*989_*1000dup (n.*989_*1000dup) c.838_849dup (p.Pro283_Ala284insThrGluProPro) c.946_957dup (p.Pro319_Ala320insThrGluProPro) c.*36_*47dup (n.*36_*47dup) c.901_912dup (p.Pro304_Ala305insThrGluProPro) | gnomAD v4 |
17 | g.6425597_6425608del | CA2527199511 | AIPL1 | c.1018_1029del (p.Thr340_Pro343del) c.829_840del (p.Thr277_Pro280del) c.*890_*901del (n.*890_*901del) c.952_963del (p.Thr318_Pro321del) c.251+8322_251+8333del c.982_993del (p.Thr328_Pro331del) c.*989_*1000del (n.*989_*1000del) c.838_849del (p.Thr280_Pro283del) c.946_957del (p.Thr316_Pro319del) c.*36_*47del (n.*36_*47del) c.901_912del (p.Thr301_Pro304del) | gnomAD v4 |
17 | g.6425587G>A | CA8328327 | AIPL1 | c.1028C>T (p.Pro343Leu) c.839C>T (p.Pro280Leu) c.*900C>T (n.*900C>T) c.962C>T (p.Pro321Leu) c.251+8332C>T c.992C>T (p.Pro331Leu) c.*999C>T (n.*999C>T) c.848C>T (p.Pro283Leu) c.956C>T (p.Pro319Leu) c.*46C>T (n.*46C>T) c.911C>T (p.Pro304Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425587G>C | CA397394402 | AIPL1 | c.1028C>G (p.Pro343Arg) c.839C>G (p.Pro280Arg) c.*900C>G (n.*900C>G) c.962C>G (p.Pro321Arg) c.251+8332C>G c.992C>G (p.Pro331Arg) c.*999C>G (n.*999C>G) c.848C>G (p.Pro283Arg) c.956C>G (p.Pro319Arg) c.*46C>G (n.*46C>G) c.911C>G (p.Pro304Arg) | gnomAD v4 |
17 | g.6425587G= | CA2245346752 | AIPL1 | c.1028C= (p.Pro343=) c.839C= (p.Pro280=) c.*900C= (n.*900C=) c.962C= (p.Pro321=) c.251+8332C= c.992C= (p.Pro331=) c.*999C= (n.*999C=) c.848C= (p.Pro283=) c.956C= (p.Pro319=) c.*46C= (n.*46C=) c.911C= (p.Pro304=) | |
17 | g.6425587G>T | CA397394401 | AIPL1 | c.1028C>A (p.Pro343His) c.839C>A (p.Pro280His) c.*900C>A (n.*900C>A) c.962C>A (p.Pro321His) c.251+8332C>A c.992C>A (p.Pro331His) c.*999C>A (n.*999C>A) c.848C>A (p.Pro283His) c.956C>A (p.Pro319His) c.*46C>A (n.*46C>A) c.911C>A (p.Pro304His) | |
17 | g.6425588G>A | CA397394403 | AIPL1 | c.1027C>T (p.Pro343Ser) c.838C>T (p.Pro280Ser) c.*899C>T (n.*899C>T) c.961C>T (p.Pro321Ser) c.251+8331C>T c.991C>T (p.Pro331Ser) c.*998C>T (n.*998C>T) c.847C>T (p.Pro283Ser) c.955C>T (p.Pro319Ser) c.*45C>T (n.*45C>T) c.910C>T (p.Pro304Ser) | |
17 | g.6425588G>C | CA397394404 | AIPL1 | c.1027C>G (p.Pro343Ala) c.838C>G (p.Pro280Ala) c.*899C>G (n.*899C>G) c.961C>G (p.Pro321Ala) c.251+8331C>G c.991C>G (p.Pro331Ala) c.*998C>G (n.*998C>G) c.847C>G (p.Pro283Ala) c.955C>G (p.Pro319Ala) c.*45C>G (n.*45C>G) c.910C>G (p.Pro304Ala) | |
17 | g.6425588G>T | CA397394405 | AIPL1 | c.1027C>A (p.Pro343Thr) c.838C>A (p.Pro280Thr) c.*899C>A (n.*899C>A) c.961C>A (p.Pro321Thr) c.251+8331C>A c.991C>A (p.Pro331Thr) c.*998C>A (n.*998C>A) c.847C>A (p.Pro283Thr) c.955C>A (p.Pro319Thr) c.*45C>A (n.*45C>A) c.910C>A (p.Pro304Thr) | |
17 | g.6425589T>A | CA497687366 | AIPL1 | c.1026A>T (p.Pro342=) c.837A>T (p.Pro279=) c.*898A>T (n.*898A>T) c.960A>T (p.Pro320=) c.251+8330A>T c.990A>T (p.Pro330=) c.*997A>T (n.*997A>T) c.846A>T (p.Pro282=) c.954A>T (p.Pro318=) c.*44A>T (n.*44A>T) c.909A>T (p.Pro303=) | |
17 | g.6425589T>C | CA497687367 | AIPL1 | c.1026A>G (p.Pro342=) c.837A>G (p.Pro279=) c.*898A>G (n.*898A>G) c.960A>G (p.Pro320=) c.251+8330A>G c.990A>G (p.Pro330=) c.*997A>G (n.*997A>G) c.846A>G (p.Pro282=) c.954A>G (p.Pro318=) c.*44A>G (n.*44A>G) c.909A>G (p.Pro303=) | |
17 | g.6425589T>G | CA497687368 | AIPL1 | c.1026A>C (p.Pro342=) c.837A>C (p.Pro279=) c.*898A>C (n.*898A>C) c.960A>C (p.Pro320=) c.251+8330A>C c.990A>C (p.Pro330=) c.*997A>C (n.*997A>C) c.846A>C (p.Pro282=) c.954A>C (p.Pro318=) c.*44A>C (n.*44A>C) c.909A>C (p.Pro303=) | dbSNP |
17 | g.6425589T= | CA2245346757 | AIPL1 | c.1026A= (p.Pro342=) c.837A= (p.Pro279=) c.*898A= (n.*898A=) c.960A= (p.Pro320=) c.251+8330A= c.990A= (p.Pro330=) c.*997A= (n.*997A=) c.846A= (p.Pro282=) c.954A= (p.Pro318=) c.*44A= (n.*44A=) c.909A= (p.Pro303=) | |
17 | g.6425590G>A | CA397394406 | AIPL1 | c.1025C>T (p.Pro342Leu) c.836C>T (p.Pro279Leu) c.*897C>T (n.*897C>T) c.959C>T (p.Pro320Leu) c.251+8329C>T c.989C>T (p.Pro330Leu) c.*996C>T (n.*996C>T) c.845C>T (p.Pro282Leu) c.953C>T (p.Pro318Leu) c.*43C>T (n.*43C>T) c.908C>T (p.Pro303Leu) | dbSNP gnomAD v2 |
17 | g.6425590G>C | CA397394407 | AIPL1 | c.1025C>G (p.Pro342Arg) c.836C>G (p.Pro279Arg) c.*897C>G (n.*897C>G) c.959C>G (p.Pro320Arg) c.251+8329C>G c.989C>G (p.Pro330Arg) c.*996C>G (n.*996C>G) c.845C>G (p.Pro282Arg) c.953C>G (p.Pro318Arg) c.*43C>G (n.*43C>G) c.908C>G (p.Pro303Arg) | |
17 | g.6425590G= | CA2245346759 | AIPL1 | c.1025C= (p.Pro342=) c.836C= (p.Pro279=) c.*897C= (n.*897C=) c.959C= (p.Pro320=) c.251+8329C= c.989C= (p.Pro330=) c.*996C= (n.*996C=) c.845C= (p.Pro282=) c.953C= (p.Pro318=) c.*43C= (n.*43C=) c.908C= (p.Pro303=) | |
17 | g.6425590G>T | CA397394408 | AIPL1 | c.1025C>A (p.Pro342Gln) c.836C>A (p.Pro279Gln) c.*897C>A (n.*897C>A) c.959C>A (p.Pro320Gln) c.251+8329C>A c.989C>A (p.Pro330Gln) c.*996C>A (n.*996C>A) c.845C>A (p.Pro282Gln) c.953C>A (p.Pro318Gln) c.*43C>A (n.*43C>A) c.908C>A (p.Pro303Gln) | COSMIC |
17 | g.6425591G>A | CA8328328 | AIPL1 | c.1024C>T (p.Pro342Ser) c.835C>T (p.Pro279Ser) c.*896C>T (n.*896C>T) c.958C>T (p.Pro320Ser) c.251+8328C>T c.988C>T (p.Pro330Ser) c.*995C>T (n.*995C>T) c.844C>T (p.Pro282Ser) c.952C>T (p.Pro318Ser) c.*42C>T (n.*42C>T) c.907C>T (p.Pro303Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425591G>C | CA397394409 | AIPL1 | c.1024C>G (p.Pro342Ala) c.835C>G (p.Pro279Ala) c.*896C>G (n.*896C>G) c.958C>G (p.Pro320Ala) c.251+8328C>G c.988C>G (p.Pro330Ala) c.*995C>G (n.*995C>G) c.844C>G (p.Pro282Ala) c.952C>G (p.Pro318Ala) c.*42C>G (n.*42C>G) c.907C>G (p.Pro303Ala) | |
17 | g.6425591G= | CA2245346762 | AIPL1 | c.1024C= (p.Pro342=) c.835C= (p.Pro279=) c.*896C= (n.*896C=) c.958C= (p.Pro320=) c.251+8328C= c.988C= (p.Pro330=) c.*995C= (n.*995C=) c.844C= (p.Pro282=) c.952C= (p.Pro318=) c.*42C= (n.*42C=) c.907C= (p.Pro303=) | |
17 | g.6425591G>T | CA397394410 | AIPL1 | c.1024C>A (p.Pro342Thr) c.835C>A (p.Pro279Thr) c.*896C>A (n.*896C>A) c.958C>A (p.Pro320Thr) c.251+8328C>A c.988C>A (p.Pro330Thr) c.*995C>A (n.*995C>A) c.844C>A (p.Pro282Thr) c.952C>A (p.Pro318Thr) c.*42C>A (n.*42C>A) c.907C>A (p.Pro303Thr) | |
17 | g.6425592C>A | CA397394411 | AIPL1 | c.1023G>T (p.Glu341Asp) c.834G>T (p.Glu278Asp) c.*895G>T (n.*895G>T) c.957G>T (p.Glu319Asp) c.251+8327G>T c.987G>T (p.Glu329Asp) c.*994G>T (n.*994G>T) c.843G>T (p.Glu281Asp) c.951G>T (p.Glu317Asp) c.*41G>T (n.*41G>T) c.906G>T (p.Glu302Asp) | |
17 | g.6425592C>G | CA397394412 | AIPL1 | c.1023G>C (p.Glu341Asp) c.834G>C (p.Glu278Asp) c.*895G>C (n.*895G>C) c.957G>C (p.Glu319Asp) c.251+8327G>C c.987G>C (p.Glu329Asp) c.*994G>C (n.*994G>C) c.843G>C (p.Glu281Asp) c.951G>C (p.Glu317Asp) c.*41G>C (n.*41G>C) c.906G>C (p.Glu302Asp) | |
17 | g.6425592C>T | CA497687369 | AIPL1 | c.1023G>A (p.Glu341=) c.834G>A (p.Glu278=) c.*895G>A (n.*895G>A) c.957G>A (p.Glu319=) c.251+8327G>A c.987G>A (p.Glu329=) c.*994G>A (n.*994G>A) c.843G>A (p.Glu281=) c.951G>A (p.Glu317=) c.*41G>A (n.*41G>A) c.906G>A (p.Glu302=) | gnomAD v4 |
17 | g.6425594_6425595del | CA2841981214 | AIPL1 | c.1022_1023del (p.Glu341AlafsTer?) c.833_834del (p.Glu278AlafsTer?) c.*894_*895del (n.*894_*895del) c.956_957del (p.Glu319AlafsTer?) c.251+8326_251+8327del c.986_987del (p.Glu329AlafsTer?) c.*993_*994del (n.*993_*994del) c.842_843del (p.Glu281AlafsTer?) c.950_951del (p.Glu317AlafsTer?) c.*40_*41del (n.*40_*41del) c.905_906del (p.Glu302AlafsTer?) | |
17 | g.6425593T>A | CA397394415 | AIPL1 | c.1022A>T (p.Glu341Val) c.833A>T (p.Glu278Val) c.*894A>T (n.*894A>T) c.956A>T (p.Glu319Val) c.251+8326A>T c.986A>T (p.Glu329Val) c.*993A>T (n.*993A>T) c.842A>T (p.Glu281Val) c.950A>T (p.Glu317Val) c.*40A>T (n.*40A>T) c.905A>T (p.Glu302Val) | |
17 | g.6425593T>C | CA397394414 | AIPL1 | c.1022A>G (p.Glu341Gly) c.833A>G (p.Glu278Gly) c.*894A>G (n.*894A>G) c.956A>G (p.Glu319Gly) c.251+8326A>G c.986A>G (p.Glu329Gly) c.*993A>G (n.*993A>G) c.842A>G (p.Glu281Gly) c.950A>G (p.Glu317Gly) c.*40A>G (n.*40A>G) c.905A>G (p.Glu302Gly) | gnomAD v4 COSMIC |
17 | g.6425593T>G | CA397394413 | AIPL1 | c.1022A>C (p.Glu341Ala) c.833A>C (p.Glu278Ala) c.*894A>C (n.*894A>C) c.956A>C (p.Glu319Ala) c.251+8326A>C c.986A>C (p.Glu329Ala) c.*993A>C (n.*993A>C) c.842A>C (p.Glu281Ala) c.950A>C (p.Glu317Ala) c.*40A>C (n.*40A>C) c.905A>C (p.Glu302Ala) | |
17 | g.6425594C>A | CA397394416 | AIPL1 | c.1021G>T (p.Glu341Ter) c.832G>T (p.Glu278Ter) c.*893G>T (n.*893G>T) c.955G>T (p.Glu319Ter) c.251+8325G>T c.985G>T (p.Glu329Ter) c.*992G>T (n.*992G>T) c.841G>T (p.Glu281Ter) c.949G>T (p.Glu317Ter) c.*39G>T (n.*39G>T) c.904G>T (p.Glu302Ter) | COSMIC |
17 | g.6425594C>G | CA397394417 | AIPL1 | c.1021G>C (p.Glu341Gln) c.832G>C (p.Glu278Gln) c.*893G>C (n.*893G>C) c.955G>C (p.Glu319Gln) c.251+8325G>C c.985G>C (p.Glu329Gln) c.*992G>C (n.*992G>C) c.841G>C (p.Glu281Gln) c.949G>C (p.Glu317Gln) c.*39G>C (n.*39G>C) c.904G>C (p.Glu302Gln) | |
17 | g.6425594C>T | CA397394418 | AIPL1 | c.1021G>A (p.Glu341Lys) c.832G>A (p.Glu278Lys) c.*893G>A (n.*893G>A) c.955G>A (p.Glu319Lys) c.251+8325G>A c.985G>A (p.Glu329Lys) c.*992G>A (n.*992G>A) c.841G>A (p.Glu281Lys) c.949G>A (p.Glu317Lys) c.*39G>A (n.*39G>A) c.904G>A (p.Glu302Lys) | |
17 | g.6425595T>A | CA497687372 | AIPL1 | c.1020A>T (p.Thr340=) c.831A>T (p.Thr277=) c.*892A>T (n.*892A>T) c.954A>T (p.Thr318=) c.251+8324A>T c.984A>T (p.Thr328=) c.*991A>T (n.*991A>T) c.840A>T (p.Thr280=) c.948A>T (p.Thr316=) c.*38A>T (n.*38A>T) c.903A>T (p.Thr301=) | |
17 | g.6425595T>C | CA497687370 | AIPL1 | c.1020A>G (p.Thr340=) c.831A>G (p.Thr277=) c.*892A>G (n.*892A>G) c.954A>G (p.Thr318=) c.251+8324A>G c.984A>G (p.Thr328=) c.*991A>G (n.*991A>G) c.840A>G (p.Thr280=) c.948A>G (p.Thr316=) c.*38A>G (n.*38A>G) c.903A>G (p.Thr301=) | |
17 | g.6425595T>G | CA497687371 | AIPL1 | c.1020A>C (p.Thr340=) c.831A>C (p.Thr277=) c.*892A>C (n.*892A>C) c.954A>C (p.Thr318=) c.251+8324A>C c.984A>C (p.Thr328=) c.*991A>C (n.*991A>C) c.840A>C (p.Thr280=) c.948A>C (p.Thr316=) c.*38A>C (n.*38A>C) c.903A>C (p.Thr301=) | |
17 | g.6425596G>A | CA397394419 | AIPL1 | c.1019C>T (p.Thr340Ile) c.830C>T (p.Thr277Ile) c.*891C>T (n.*891C>T) c.953C>T (p.Thr318Ile) c.251+8323C>T c.983C>T (p.Thr328Ile) c.*990C>T (n.*990C>T) c.839C>T (p.Thr280Ile) c.947C>T (p.Thr316Ile) c.*37C>T (n.*37C>T) c.902C>T (p.Thr301Ile) | |
17 | g.6425596G>C | CA397394420 | AIPL1 | c.1019C>G (p.Thr340Arg) c.830C>G (p.Thr277Arg) c.*891C>G (n.*891C>G) c.953C>G (p.Thr318Arg) c.251+8323C>G c.983C>G (p.Thr328Arg) c.*990C>G (n.*990C>G) c.839C>G (p.Thr280Arg) c.947C>G (p.Thr316Arg) c.*37C>G (n.*37C>G) c.902C>G (p.Thr301Arg) | |
17 | g.6425596G= | CA2245346764 | AIPL1 | c.1019C= (p.Thr340=) c.830C= (p.Thr277=) c.*891C= (n.*891C=) c.953C= (p.Thr318=) c.251+8323C= c.983C= (p.Thr328=) c.*990C= (n.*990C=) c.839C= (p.Thr280=) c.947C= (p.Thr316=) c.*37C= (n.*37C=) c.902C= (p.Thr301=) | |
17 | g.6425596G>T | CA8328329 | AIPL1 | c.1019C>A (p.Thr340Lys) c.830C>A (p.Thr277Lys) c.*891C>A (n.*891C>A) c.953C>A (p.Thr318Lys) c.251+8323C>A c.983C>A (p.Thr328Lys) c.*990C>A (n.*990C>A) c.839C>A (p.Thr280Lys) c.947C>A (p.Thr316Lys) c.*37C>A (n.*37C>A) c.902C>A (p.Thr301Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425597T>A | CA397394421 | AIPL1 | c.1018A>T (p.Thr340Ser) c.829A>T (p.Thr277Ser) c.*890A>T (n.*890A>T) c.952A>T (p.Thr318Ser) c.251+8322A>T c.982A>T (p.Thr328Ser) c.*989A>T (n.*989A>T) c.838A>T (p.Thr280Ser) c.946A>T (p.Thr316Ser) c.*36A>T (n.*36A>T) c.901A>T (p.Thr301Ser) | |
17 | g.6425597T>C | CA397394422 | AIPL1 | c.1018A>G (p.Thr340Ala) c.829A>G (p.Thr277Ala) c.*890A>G (n.*890A>G) c.952A>G (p.Thr318Ala) c.251+8322A>G c.982A>G (p.Thr328Ala) c.*989A>G (n.*989A>G) c.838A>G (p.Thr280Ala) c.946A>G (p.Thr316Ala) c.*36A>G (n.*36A>G) c.901A>G (p.Thr301Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425597T>G | CA397394423 | AIPL1 | c.1018A>C (p.Thr340Pro) c.829A>C (p.Thr277Pro) c.*890A>C (n.*890A>C) c.952A>C (p.Thr318Pro) c.251+8322A>C c.982A>C (p.Thr328Pro) c.*989A>C (n.*989A>C) c.838A>C (p.Thr280Pro) c.946A>C (p.Thr316Pro) c.*36A>C (n.*36A>C) c.901A>C (p.Thr301Pro) | |
17 | g.6425597T= | CA2245346769 | AIPL1 | c.1018A= (p.Thr340=) c.829A= (p.Thr277=) c.*890A= (n.*890A=) c.952A= (p.Thr318=) c.251+8322A= c.982A= (p.Thr328=) c.*989A= (n.*989A=) c.838A= (p.Thr280=) c.946A= (p.Thr316=) c.*36A= (n.*36A=) c.901A= (p.Thr301=) | |
17 | g.6425597_6425609delinsTGGGTGGCTCTGC | CA2245346768 | AIPL1 | c.1006_1018delinsGCAGAGCCACCCA (p.Ala336=) c.817_829delinsGCAGAGCCACCCA (p.Ala273=) c.*878_*890delinsGCAGAGCCACCCA (n.*878_*890delinsGCAGAGCCACCCA) c.940_952delinsGCAGAGCCACCCA (p.Ala314=) c.251+8310_251+8322delinsGCAGAGCCACCCA c.970_982delinsGCAGAGCCACCCA (p.Ala324=) c.*977_*989delinsGCAGAGCCACCCA (n.*977_*989delinsGCAGAGCCACCCA) c.826_838delinsGCAGAGCCACCCA (p.Ala276=) c.934_946delinsGCAGAGCCACCCA (p.Ala312=) c.*24_*36delinsGCAGAGCCACCCA (n.*24_*36delinsGCAGAGCCACCCA) c.889_901delinsGCAGAGCCACCCA (p.Ala297=) | |
17 | g.6425598G>A | CA497687373 | AIPL1 | c.1017C>T (p.Pro339=) c.828C>T (p.Pro276=) c.*889C>T (n.*889C>T) c.951C>T (p.Pro317=) c.251+8321C>T c.981C>T (p.Pro327=) c.*988C>T (n.*988C>T) c.837C>T (p.Pro279=) c.945C>T (p.Pro315=) c.*35C>T (n.*35C>T) c.900C>T (p.Pro300=) | gnomAD v4 |
17 | g.6425598G>C | CA497687374 | AIPL1 | c.1017C>G (p.Pro339=) c.828C>G (p.Pro276=) c.*889C>G (n.*889C>G) c.951C>G (p.Pro317=) c.251+8321C>G c.981C>G (p.Pro327=) c.*988C>G (n.*988C>G) c.837C>G (p.Pro279=) c.945C>G (p.Pro315=) c.*35C>G (n.*35C>G) c.900C>G (p.Pro300=) | |
17 | g.6425598G>T | CA497687375 | AIPL1 | c.1017C>A (p.Pro339=) c.828C>A (p.Pro276=) c.*889C>A (n.*889C>A) c.951C>A (p.Pro317=) c.251+8321C>A c.981C>A (p.Pro327=) c.*988C>A (n.*988C>A) c.837C>A (p.Pro279=) c.945C>A (p.Pro315=) c.*35C>A (n.*35C>A) c.900C>A (p.Pro300=) | gnomAD v4 |
17 | g.6425600del | CA2841981215 | AIPL1 | c.1017del (p.Thr340GlnfsTer?) c.828del (p.Thr277GlnfsTer?) c.*889del (n.*889del) c.951del (p.Thr318GlnfsTer?) c.251+8321del c.981del (p.Thr328GlnfsTer?) c.*988del (n.*988del) c.837del (p.Thr280GlnfsTer?) c.945del (p.Thr316GlnfsTer?) c.*35del (n.*35del) c.900del (p.Thr301GlnfsTer?) | |
17 | g.6425601_6425612dup | CA624859141 | AIPL1 | c.1006_1017dup (p.Pro339_Thr340insAlaGluProPro) c.817_828dup (p.Pro276_Thr277insAlaGluProPro) c.*878_*889dup (n.*878_*889dup) c.940_951dup (p.Pro317_Thr318insAlaGluProPro) c.251+8310_251+8321dup c.970_981dup (p.Pro327_Thr328insAlaGluProPro) c.*977_*988dup (n.*977_*988dup) c.826_837dup (p.Pro279_Thr280insAlaGluProPro) c.934_945dup (p.Pro315_Thr316insAlaGluProPro) c.*24_*35dup (n.*24_*35dup) c.889_900dup (p.Pro300_Thr301insAlaGluProPro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425601_6425612del | CA8328330 | AIPL1 | c.1006_1017del (p.Ala336_Pro339del) c.817_828del (p.Ala273_Pro276del) c.*878_*889del (n.*878_*889del) c.940_951del (p.Ala314_Pro317del) c.251+8310_251+8321del c.970_981del (p.Ala324_Pro327del) c.*977_*988del (n.*977_*988del) c.826_837del (p.Ala276_Pro279del) c.934_945del (p.Ala312_Pro315del) c.*24_*35del (n.*24_*35del) c.889_900del (p.Ala297_Pro300del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425599G>A | CA397394424 | AIPL1 | c.1016C>T (p.Pro339Leu) c.827C>T (p.Pro276Leu) c.*888C>T (n.*888C>T) c.950C>T (p.Pro317Leu) c.251+8320C>T c.980C>T (p.Pro327Leu) c.*987C>T (n.*987C>T) c.836C>T (p.Pro279Leu) c.944C>T (p.Pro315Leu) c.*34C>T (n.*34C>T) c.899C>T (p.Pro300Leu) | gnomAD v4 |
17 | g.6425599G>C | CA397394425 | AIPL1 | c.1016C>G (p.Pro339Arg) c.827C>G (p.Pro276Arg) c.*888C>G (n.*888C>G) c.950C>G (p.Pro317Arg) c.251+8320C>G c.980C>G (p.Pro327Arg) c.*987C>G (n.*987C>G) c.836C>G (p.Pro279Arg) c.944C>G (p.Pro315Arg) c.*34C>G (n.*34C>G) c.899C>G (p.Pro300Arg) | |
17 | g.6425599G= | CA2245346773 | AIPL1 | c.1016C= (p.Pro339=) c.827C= (p.Pro276=) c.*888C= (n.*888C=) c.950C= (p.Pro317=) c.251+8320C= c.980C= (p.Pro327=) c.*987C= (n.*987C=) c.836C= (p.Pro279=) c.944C= (p.Pro315=) c.*34C= (n.*34C=) c.899C= (p.Pro300=) | |
17 | g.6425599G>T | CA397394426 | AIPL1 | c.1016C>A (p.Pro339His) c.827C>A (p.Pro276His) c.*888C>A (n.*888C>A) c.950C>A (p.Pro317His) c.251+8320C>A c.980C>A (p.Pro327His) c.*987C>A (n.*987C>A) c.836C>A (p.Pro279His) c.944C>A (p.Pro315His) c.*34C>A (n.*34C>A) c.899C>A (p.Pro300His) | dbSNP |
17 | g.6425600G>A | CA397394428 | AIPL1 | c.1015C>T (p.Pro339Ser) c.826C>T (p.Pro276Ser) c.*887C>T (n.*887C>T) c.949C>T (p.Pro317Ser) c.251+8319C>T c.979C>T (p.Pro327Ser) c.*986C>T (n.*986C>T) c.835C>T (p.Pro279Ser) c.943C>T (p.Pro315Ser) c.*33C>T (n.*33C>T) c.898C>T (p.Pro300Ser) | dbSNP gnomAD v2 |
17 | g.6425600G>C | CA397394429 | AIPL1 | c.1015C>G (p.Pro339Ala) c.826C>G (p.Pro276Ala) c.*887C>G (n.*887C>G) c.949C>G (p.Pro317Ala) c.251+8319C>G c.979C>G (p.Pro327Ala) c.*986C>G (n.*986C>G) c.835C>G (p.Pro279Ala) c.943C>G (p.Pro315Ala) c.*33C>G (n.*33C>G) c.898C>G (p.Pro300Ala) | |
17 | g.6425600G= | CA2245346777 | AIPL1 | c.1015C= (p.Pro339=) c.826C= (p.Pro276=) c.*887C= (n.*887C=) c.949C= (p.Pro317=) c.251+8319C= c.979C= (p.Pro327=) c.*986C= (n.*986C=) c.835C= (p.Pro279=) c.943C= (p.Pro315=) c.*33C= (n.*33C=) c.898C= (p.Pro300=) | |
17 | g.6425600G>T | CA397394427 | AIPL1 | c.1015C>A (p.Pro339Thr) c.826C>A (p.Pro276Thr) c.*887C>A (n.*887C>A) c.949C>A (p.Pro317Thr) c.251+8319C>A c.979C>A (p.Pro327Thr) c.*986C>A (n.*986C>A) c.835C>A (p.Pro279Thr) c.943C>A (p.Pro315Thr) c.*33C>A (n.*33C>A) c.898C>A (p.Pro300Thr) | |
17 | g.6425601T>A | CA497687376 | AIPL1 | c.1014A>T (p.Pro338=) c.825A>T (p.Pro275=) c.*886A>T (n.*886A>T) c.948A>T (p.Pro316=) c.251+8318A>T c.978A>T (p.Pro326=) c.*985A>T (n.*985A>T) c.834A>T (p.Pro278=) c.942A>T (p.Pro314=) c.*32A>T (n.*32A>T) c.897A>T (p.Pro299=) | |
17 | g.6425601T>C | CA497687377 | AIPL1 | c.1014A>G (p.Pro338=) c.825A>G (p.Pro275=) c.*886A>G (n.*886A>G) c.948A>G (p.Pro316=) c.251+8318A>G c.978A>G (p.Pro326=) c.*985A>G (n.*985A>G) c.834A>G (p.Pro278=) c.942A>G (p.Pro314=) c.*32A>G (n.*32A>G) c.897A>G (p.Pro299=) | gnomAD v4 |
17 | g.6425601T>G | CA497687378 | AIPL1 | c.1014A>C (p.Pro338=) c.825A>C (p.Pro275=) c.*886A>C (n.*886A>C) c.948A>C (p.Pro316=) c.251+8318A>C c.978A>C (p.Pro326=) c.*985A>C (n.*985A>C) c.834A>C (p.Pro278=) c.942A>C (p.Pro314=) c.*32A>C (n.*32A>C) c.897A>C (p.Pro299=) | |
17 | g.6425602G>A | CA397394432 | AIPL1 | c.1013C>T (p.Pro338Leu) c.824C>T (p.Pro275Leu) c.*885C>T (n.*885C>T) c.947C>T (p.Pro316Leu) c.251+8317C>T c.977C>T (p.Pro326Leu) c.*984C>T (n.*984C>T) c.833C>T (p.Pro278Leu) c.941C>T (p.Pro314Leu) c.*31C>T (n.*31C>T) c.896C>T (p.Pro299Leu) | |
17 | g.6425602G>C | CA397394430 | AIPL1 | c.1013C>G (p.Pro338Arg) c.824C>G (p.Pro275Arg) c.*885C>G (n.*885C>G) c.947C>G (p.Pro316Arg) c.251+8317C>G c.977C>G (p.Pro326Arg) c.*984C>G (n.*984C>G) c.833C>G (p.Pro278Arg) c.941C>G (p.Pro314Arg) c.*31C>G (n.*31C>G) c.896C>G (p.Pro299Arg) | |
17 | g.6425602G>T | CA397394431 | AIPL1 | c.1013C>A (p.Pro338Gln) c.824C>A (p.Pro275Gln) c.*885C>A (n.*885C>A) c.947C>A (p.Pro316Gln) c.251+8317C>A c.977C>A (p.Pro326Gln) c.*984C>A (n.*984C>A) c.833C>A (p.Pro278Gln) c.941C>A (p.Pro314Gln) c.*31C>A (n.*31C>A) c.896C>A (p.Pro299Gln) | gnomAD v4 |
17 | g.6425603G>A | CA397394433 | AIPL1 | c.1012C>T (p.Pro338Ser) c.823C>T (p.Pro275Ser) c.*884C>T (n.*884C>T) c.946C>T (p.Pro316Ser) c.251+8316C>T c.976C>T (p.Pro326Ser) c.*983C>T (n.*983C>T) c.832C>T (p.Pro278Ser) c.940C>T (p.Pro314Ser) c.*30C>T (n.*30C>T) c.895C>T (p.Pro299Ser) | gnomAD v4 |
17 | g.6425603G>C | CA397394434 | AIPL1 | c.1012C>G (p.Pro338Ala) c.823C>G (p.Pro275Ala) c.*884C>G (n.*884C>G) c.946C>G (p.Pro316Ala) c.251+8316C>G c.976C>G (p.Pro326Ala) c.*983C>G (n.*983C>G) c.832C>G (p.Pro278Ala) c.940C>G (p.Pro314Ala) c.*30C>G (n.*30C>G) c.895C>G (p.Pro299Ala) | dbSNP |
17 | g.6425603G= | CA2245346781 | AIPL1 | c.1012C= (p.Pro338=) c.823C= (p.Pro275=) c.*884C= (n.*884C=) c.946C= (p.Pro316=) c.251+8316C= c.976C= (p.Pro326=) c.*983C= (n.*983C=) c.832C= (p.Pro278=) c.940C= (p.Pro314=) c.*30C= (n.*30C=) c.895C= (p.Pro299=) | |
17 | g.6425603G>T | CA8328331 | AIPL1 | c.1012C>A (p.Pro338Thr) c.823C>A (p.Pro275Thr) c.*884C>A (n.*884C>A) c.946C>A (p.Pro316Thr) c.251+8316C>A c.976C>A (p.Pro326Thr) c.*983C>A (n.*983C>A) c.832C>A (p.Pro278Thr) c.940C>A (p.Pro314Thr) c.*30C>A (n.*30C>A) c.895C>A (p.Pro299Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425603_6425605delinsGCT | CA2245346779 | AIPL1 | c.1010_1012delinsAGC (p.Glu337=) c.821_823delinsAGC (p.Glu274=) c.*882_*884delinsAGC (n.*882_*884delinsAGC) c.944_946delinsAGC (p.Glu315=) c.251+8314_251+8316delinsAGC c.974_976delinsAGC (p.Glu325=) c.*981_*983delinsAGC (n.*981_*983delinsAGC) c.830_832delinsAGC (p.Glu277=) c.938_940delinsAGC (p.Glu313=) c.*28_*30delinsAGC (n.*28_*30delinsAGC) c.893_895delinsAGC (p.Glu298=) | |
17 | g.6425604C>A | CA397394435 | AIPL1 | c.1011G>T (p.Glu337Asp) c.822G>T (p.Glu274Asp) c.*883G>T (n.*883G>T) c.945G>T (p.Glu315Asp) c.251+8315G>T c.975G>T (p.Glu325Asp) c.*982G>T (n.*982G>T) c.831G>T (p.Glu277Asp) c.939G>T (p.Glu313Asp) c.*29G>T (n.*29G>T) c.894G>T (p.Glu298Asp) | |
17 | g.6425604C>G | CA397394436 | AIPL1 | c.1011G>C (p.Glu337Asp) c.822G>C (p.Glu274Asp) c.*883G>C (n.*883G>C) c.945G>C (p.Glu315Asp) c.251+8315G>C c.975G>C (p.Glu325Asp) c.*982G>C (n.*982G>C) c.831G>C (p.Glu277Asp) c.939G>C (p.Glu313Asp) c.*29G>C (n.*29G>C) c.894G>C (p.Glu298Asp) | |
17 | g.6425604C>T | CA497687379 | AIPL1 | c.1011G>A (p.Glu337=) c.822G>A (p.Glu274=) c.*883G>A (n.*883G>A) c.945G>A (p.Glu315=) c.251+8315G>A c.975G>A (p.Glu325=) c.*982G>A (n.*982G>A) c.831G>A (p.Glu277=) c.939G>A (p.Glu313=) c.*29G>A (n.*29G>A) c.894G>A (p.Glu298=) | |
17 | g.6425606_6425607del | CA227863 | AIPL1 | c.1010_1011del (p.Glu337AlafsTer?) c.821_822del (p.Glu274AlafsTer?) c.*882_*883del (n.*882_*883del) c.944_945del (p.Glu315AlafsTer?) c.251+8314_251+8315del c.974_975del (p.Glu325AlafsTer?) c.*981_*982del (n.*981_*982del) c.830_831del (p.Glu277AlafsTer?) c.938_939del (p.Glu313AlafsTer?) c.*28_*29del (n.*28_*29del) c.893_894del (p.Glu298AlafsTer?) | ClinVar dbSNP |
17 | g.6425605T>A | CA397394437 | AIPL1 | c.1010A>T (p.Glu337Val) c.821A>T (p.Glu274Val) c.*882A>T (n.*882A>T) c.944A>T (p.Glu315Val) c.251+8314A>T c.974A>T (p.Glu325Val) c.*981A>T (n.*981A>T) c.830A>T (p.Glu277Val) c.938A>T (p.Glu313Val) c.*28A>T (n.*28A>T) c.893A>T (p.Glu298Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425605T>C | CA397394438 | AIPL1 | c.1010A>G (p.Glu337Gly) c.821A>G (p.Glu274Gly) c.*882A>G (n.*882A>G) c.944A>G (p.Glu315Gly) c.251+8314A>G c.974A>G (p.Glu325Gly) c.*981A>G (n.*981A>G) c.830A>G (p.Glu277Gly) c.938A>G (p.Glu313Gly) c.*28A>G (n.*28A>G) c.893A>G (p.Glu298Gly) | |
17 | g.6425605T>G | CA397394439 | AIPL1 | c.1010A>C (p.Glu337Ala) c.821A>C (p.Glu274Ala) c.*882A>C (n.*882A>C) c.944A>C (p.Glu315Ala) c.251+8314A>C c.974A>C (p.Glu325Ala) c.*981A>C (n.*981A>C) c.830A>C (p.Glu277Ala) c.938A>C (p.Glu313Ala) c.*28A>C (n.*28A>C) c.893A>C (p.Glu298Ala) | |
17 | g.6425605T= | CA2245346789 | AIPL1 | c.1010A= (p.Glu337=) c.821A= (p.Glu274=) c.*882A= (n.*882A=) c.944A= (p.Glu315=) c.251+8314A= c.974A= (p.Glu325=) c.*981A= (n.*981A=) c.830A= (p.Glu277=) c.938A= (p.Glu313=) c.*28A= (n.*28A=) c.893A= (p.Glu298=) | |
17 | g.6425606C>A | CA397394441 | AIPL1 | c.1009G>T (p.Glu337Ter) c.820G>T (p.Glu274Ter) c.*881G>T (n.*881G>T) c.943G>T (p.Glu315Ter) c.251+8313G>T c.973G>T (p.Glu325Ter) c.*980G>T (n.*980G>T) c.829G>T (p.Glu277Ter) c.937G>T (p.Glu313Ter) c.*27G>T (n.*27G>T) c.892G>T (p.Glu298Ter) | |
17 | g.6425606C= | CA2245346793 | AIPL1 | c.1009G= (p.Glu337=) c.820G= (p.Glu274=) c.*881G= (n.*881G=) c.943G= (p.Glu315=) c.251+8313G= c.973G= (p.Glu325=) c.*980G= (n.*980G=) c.829G= (p.Glu277=) c.937G= (p.Glu313=) c.*27G= (n.*27G=) c.892G= (p.Glu298=) | |
17 | g.6425606C>G | CA8328332 | AIPL1 | c.1009G>C (p.Glu337Gln) c.820G>C (p.Glu274Gln) c.*881G>C (n.*881G>C) c.943G>C (p.Glu315Gln) c.251+8313G>C c.973G>C (p.Glu325Gln) c.*980G>C (n.*980G>C) c.829G>C (p.Glu277Gln) c.937G>C (p.Glu313Gln) c.*27G>C (n.*27G>C) c.892G>C (p.Glu298Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425606C>T | CA397394440 | AIPL1 | c.1009G>A (p.Glu337Lys) c.820G>A (p.Glu274Lys) c.*881G>A (n.*881G>A) c.943G>A (p.Glu315Lys) c.251+8313G>A c.973G>A (p.Glu325Lys) c.*980G>A (n.*980G>A) c.829G>A (p.Glu277Lys) c.937G>A (p.Glu313Lys) c.*27G>A (n.*27G>A) c.892G>A (p.Glu298Lys) | |
17 | g.6425607T>A | CA497687380 | AIPL1 | c.1008A>T (p.Ala336=) c.819A>T (p.Ala273=) c.*880A>T (n.*880A>T) c.942A>T (p.Ala314=) c.251+8312A>T c.972A>T (p.Ala324=) c.*979A>T (n.*979A>T) c.828A>T (p.Ala276=) c.936A>T (p.Ala312=) c.*26A>T (n.*26A>T) c.891A>T (p.Ala297=) | |
17 | g.6425607T>C | CA497687381 | AIPL1 | c.1008A>G (p.Ala336=) c.819A>G (p.Ala273=) c.*880A>G (n.*880A>G) c.942A>G (p.Ala314=) c.251+8312A>G c.972A>G (p.Ala324=) c.*979A>G (n.*979A>G) c.828A>G (p.Ala276=) c.936A>G (p.Ala312=) c.*26A>G (n.*26A>G) c.891A>G (p.Ala297=) | |
17 | g.6425607T>G | CA497687382 | AIPL1 | c.1008A>C (p.Ala336=) c.819A>C (p.Ala273=) c.*880A>C (n.*880A>C) c.942A>C (p.Ala314=) c.251+8312A>C c.972A>C (p.Ala324=) c.*979A>C (n.*979A>C) c.828A>C (p.Ala276=) c.936A>C (p.Ala312=) c.*26A>C (n.*26A>C) c.891A>C (p.Ala297=) | |
17 | g.6425608G>A | CA397394442 | AIPL1 | c.1007C>T (p.Ala336Val) c.818C>T (p.Ala273Val) c.*879C>T (n.*879C>T) c.941C>T (p.Ala314Val) c.251+8311C>T c.971C>T (p.Ala324Val) c.*978C>T (n.*978C>T) c.827C>T (p.Ala276Val) c.935C>T (p.Ala312Val) c.*25C>T (n.*25C>T) c.890C>T (p.Ala297Val) | |
17 | g.6425608G>C | CA397394443 | AIPL1 | c.1007C>G (p.Ala336Gly) c.818C>G (p.Ala273Gly) c.*879C>G (n.*879C>G) c.941C>G (p.Ala314Gly) c.251+8311C>G c.971C>G (p.Ala324Gly) c.*978C>G (n.*978C>G) c.827C>G (p.Ala276Gly) c.935C>G (p.Ala312Gly) c.*25C>G (n.*25C>G) c.890C>G (p.Ala297Gly) | |
17 | g.6425608G>T | CA397394444 | AIPL1 | c.1007C>A (p.Ala336Glu) c.818C>A (p.Ala273Glu) c.*879C>A (n.*879C>A) c.941C>A (p.Ala314Glu) c.251+8311C>A c.971C>A (p.Ala324Glu) c.*978C>A (n.*978C>A) c.827C>A (p.Ala276Glu) c.935C>A (p.Ala312Glu) c.*25C>A (n.*25C>A) c.890C>A (p.Ala297Glu) | |
17 | g.6425609C>A | CA397394445 | AIPL1 | c.1006G>T (p.Ala336Ser) c.817G>T (p.Ala273Ser) c.*878G>T (n.*878G>T) c.940G>T (p.Ala314Ser) c.251+8310G>T c.970G>T (p.Ala324Ser) c.*977G>T (n.*977G>T) c.826G>T (p.Ala276Ser) c.934G>T (p.Ala312Ser) c.*24G>T (n.*24G>T) c.889G>T (p.Ala297Ser) | |
17 | g.6425609C= | CA2245346796 | AIPL1 | c.1006G= (p.Ala336=) c.817G= (p.Ala273=) c.*878G= (n.*878G=) c.940G= (p.Ala314=) c.251+8310G= c.970G= (p.Ala324=) c.*977G= (n.*977G=) c.826G= (p.Ala276=) c.934G= (p.Ala312=) c.*24G= (n.*24G=) c.889G= (p.Ala297=) | |
17 | g.6425609C>G | CA397394446 | AIPL1 | c.1006G>C (p.Ala336Pro) c.817G>C (p.Ala273Pro) c.*878G>C (n.*878G>C) c.940G>C (p.Ala314Pro) c.251+8310G>C c.970G>C (p.Ala324Pro) c.*977G>C (n.*977G>C) c.826G>C (p.Ala276Pro) c.934G>C (p.Ala312Pro) c.*24G>C (n.*24G>C) c.889G>C (p.Ala297Pro) | |
17 | g.6425609C>T | CA233457 | AIPL1 | c.1006G>A (p.Ala336Thr) c.817G>A (p.Ala273Thr) c.*878G>A (n.*878G>A) c.940G>A (p.Ala314Thr) c.251+8310G>A c.970G>A (p.Ala324Thr) c.*977G>A (n.*977G>A) c.826G>A (p.Ala276Thr) c.934G>A (p.Ala312Thr) c.*24G>A (n.*24G>A) c.889G>A (p.Ala297Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425609_6425610delinsCG | CA2245346801 | AIPL1 | c.1005_1006delinsCG (p.Pro335=) c.816_817delinsCG (p.Pro272=) c.*877_*878delinsCG (n.*877_*878delinsCG) c.939_940delinsCG (p.Pro313=) c.251+8309_251+8310delinsCG c.969_970delinsCG (p.Pro323=) c.*976_*977delinsCG (n.*976_*977delinsCG) c.825_826delinsCG (p.Pro275=) c.933_934delinsCG (p.Pro311=) c.*23_*24delinsCG (n.*23_*24delinsCG) c.888_889delinsCG (p.Pro296=) | |
17 | g.6425610G>A | CA8328333 | AIPL1 | c.1005C>T (p.Pro335=) c.816C>T (p.Pro272=) c.*877C>T (n.*877C>T) c.939C>T (p.Pro313=) c.251+8309C>T c.969C>T (p.Pro323=) c.*976C>T (n.*976C>T) c.825C>T (p.Pro275=) c.933C>T (p.Pro311=) c.*23C>T (n.*23C>T) c.888C>T (p.Pro296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425610G>C | CA497687383 | AIPL1 | c.1005C>G (p.Pro335=) c.816C>G (p.Pro272=) c.*877C>G (n.*877C>G) c.939C>G (p.Pro313=) c.251+8309C>G c.969C>G (p.Pro323=) c.*976C>G (n.*976C>G) c.825C>G (p.Pro275=) c.933C>G (p.Pro311=) c.*23C>G (n.*23C>G) c.888C>G (p.Pro296=) | |
17 | g.6425610G= | CA2245346805 | AIPL1 | c.1005C= (p.Pro335=) c.816C= (p.Pro272=) c.*877C= (n.*877C=) c.939C= (p.Pro313=) c.251+8309C= c.969C= (p.Pro323=) c.*976C= (n.*976C=) c.825C= (p.Pro275=) c.933C= (p.Pro311=) c.*23C= (n.*23C=) c.888C= (p.Pro296=) | |
17 | g.6425610G>T | CA497687384 | AIPL1 | c.1005C>A (p.Pro335=) c.816C>A (p.Pro272=) c.*877C>A (n.*877C>A) c.939C>A (p.Pro313=) c.251+8309C>A c.969C>A (p.Pro323=) c.*976C>A (n.*976C>A) c.825C>A (p.Pro275=) c.933C>A (p.Pro311=) c.*23C>A (n.*23C>A) c.888C>A (p.Pro296=) | gnomAD v4 |
17 | g.6425612del | CA774024786 | AIPL1 | c.1005del (p.Ala336GlnfsTer?) c.816del (p.Ala273GlnfsTer?) c.*877del (n.*877del) c.939del (p.Ala314GlnfsTer?) c.251+8309del c.969del (p.Ala324GlnfsTer?) c.*976del (n.*976del) c.825del (p.Ala276GlnfsTer?) c.933del (p.Ala312GlnfsTer?) c.*23del (n.*23del) c.888del (p.Ala297GlnfsTer?) | ClinVar dbSNP |
17 | g.6425611G>A | CA397394447 | AIPL1 | c.1004C>T (p.Pro335Leu) c.815C>T (p.Pro272Leu) c.*876C>T (n.*876C>T) c.938C>T (p.Pro313Leu) c.251+8308C>T c.968C>T (p.Pro323Leu) c.*975C>T (n.*975C>T) c.824C>T (p.Pro275Leu) c.932C>T (p.Pro311Leu) c.*22C>T (n.*22C>T) c.887C>T (p.Pro296Leu) | ClinVar |
17 | g.6425611G>C | CA397394448 | AIPL1 | c.1004C>G (p.Pro335Arg) c.815C>G (p.Pro272Arg) c.*876C>G (n.*876C>G) c.938C>G (p.Pro313Arg) c.251+8308C>G c.968C>G (p.Pro323Arg) c.*975C>G (n.*975C>G) c.824C>G (p.Pro275Arg) c.932C>G (p.Pro311Arg) c.*22C>G (n.*22C>G) c.887C>G (p.Pro296Arg) | |
17 | g.6425611G= | CA2245346811 | AIPL1 | c.1004C= (p.Pro335=) c.815C= (p.Pro272=) c.*876C= (n.*876C=) c.938C= (p.Pro313=) c.251+8308C= c.968C= (p.Pro323=) c.*975C= (n.*975C=) c.824C= (p.Pro275=) c.932C= (p.Pro311=) c.*22C= (n.*22C=) c.887C= (p.Pro296=) | |
17 | g.6425611G>T | CA279223 | AIPL1 | c.1004C>A (p.Pro335His) c.815C>A (p.Pro272His) c.*876C>A (n.*876C>A) c.938C>A (p.Pro313His) c.251+8308C>A c.968C>A (p.Pro323His) c.*975C>A (n.*975C>A) c.824C>A (p.Pro275His) c.932C>A (p.Pro311His) c.*22C>A (n.*22C>A) c.887C>A (p.Pro296His) | ClinVar dbSNP |
17 | g.6425612G>A | CA397394449 | AIPL1 | c.1003C>T (p.Pro335Ser) c.814C>T (p.Pro272Ser) c.*875C>T (n.*875C>T) c.937C>T (p.Pro313Ser) c.251+8307C>T c.967C>T (p.Pro323Ser) c.*974C>T (n.*974C>T) c.823C>T (p.Pro275Ser) c.931C>T (p.Pro311Ser) c.*21C>T (n.*21C>T) c.886C>T (p.Pro296Ser) | dbSNP |
17 | g.6425612G>C | CA397394450 | AIPL1 | c.1003C>G (p.Pro335Ala) c.814C>G (p.Pro272Ala) c.*875C>G (n.*875C>G) c.937C>G (p.Pro313Ala) c.251+8307C>G c.967C>G (p.Pro323Ala) c.*974C>G (n.*974C>G) c.823C>G (p.Pro275Ala) c.931C>G (p.Pro311Ala) c.*21C>G (n.*21C>G) c.886C>G (p.Pro296Ala) | |
17 | g.6425612G= | CA2245346815 | AIPL1 | c.1003C= (p.Pro335=) c.814C= (p.Pro272=) c.*875C= (n.*875C=) c.937C= (p.Pro313=) c.251+8307C= c.967C= (p.Pro323=) c.*974C= (n.*974C=) c.823C= (p.Pro275=) c.931C= (p.Pro311=) c.*21C= (n.*21C=) c.886C= (p.Pro296=) | |
17 | g.6425612G>T | CA397394451 | AIPL1 | c.1003C>A (p.Pro335Thr) c.814C>A (p.Pro272Thr) c.*875C>A (n.*875C>A) c.937C>A (p.Pro313Thr) c.251+8307C>A c.967C>A (p.Pro323Thr) c.*974C>A (n.*974C>A) c.823C>A (p.Pro275Thr) c.931C>A (p.Pro311Thr) c.*21C>A (n.*21C>A) c.886C>A (p.Pro296Thr) | gnomAD v4 |
17 | g.6425613A>C | CA497687386 | AIPL1 | c.1002T>G (p.Pro334=) c.813T>G (p.Pro271=) c.*874T>G (n.*874T>G) c.936T>G (p.Pro312=) c.251+8306T>G c.966T>G (p.Pro322=) c.*973T>G (n.*973T>G) c.822T>G (p.Pro274=) c.930T>G (p.Pro310=) c.*20T>G (n.*20T>G) c.885T>G (p.Pro295=) | ClinVar gnomAD v4 |
17 | g.6425613A>G | CA497687388 | AIPL1 | c.1002T>C (p.Pro334=) c.813T>C (p.Pro271=) c.*874T>C (n.*874T>C) c.936T>C (p.Pro312=) c.251+8306T>C c.966T>C (p.Pro322=) c.*973T>C (n.*973T>C) c.822T>C (p.Pro274=) c.930T>C (p.Pro310=) c.*20T>C (n.*20T>C) c.885T>C (p.Pro295=) | |
17 | g.6425613A>T | CA497687391 | AIPL1 | c.1002T>A (p.Pro334=) c.813T>A (p.Pro271=) c.*874T>A (n.*874T>A) c.936T>A (p.Pro312=) c.251+8306T>A c.966T>A (p.Pro322=) c.*973T>A (n.*973T>A) c.822T>A (p.Pro274=) c.930T>A (p.Pro310=) c.*20T>A (n.*20T>A) c.885T>A (p.Pro295=) | |
17 | g.6425614G>A | CA397394453 | AIPL1 | c.1001C>T (p.Pro334Leu) c.812C>T (p.Pro271Leu) c.*873C>T (n.*873C>T) c.935C>T (p.Pro312Leu) c.251+8305C>T c.965C>T (p.Pro322Leu) c.*972C>T (n.*972C>T) c.821C>T (p.Pro274Leu) c.929C>T (p.Pro310Leu) c.*19C>T (n.*19C>T) c.884C>T (p.Pro295Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425614G>C | CA397394454 | AIPL1 | c.1001C>G (p.Pro334Arg) c.812C>G (p.Pro271Arg) c.*873C>G (n.*873C>G) c.935C>G (p.Pro312Arg) c.251+8305C>G c.965C>G (p.Pro322Arg) c.*972C>G (n.*972C>G) c.821C>G (p.Pro274Arg) c.929C>G (p.Pro310Arg) c.*19C>G (n.*19C>G) c.884C>G (p.Pro295Arg) | |
17 | g.6425614G= | CA2245346818 | AIPL1 | c.1001C= (p.Pro334=) c.812C= (p.Pro271=) c.*873C= (n.*873C=) c.935C= (p.Pro312=) c.251+8305C= c.965C= (p.Pro322=) c.*972C= (n.*972C=) c.821C= (p.Pro274=) c.929C= (p.Pro310=) c.*19C= (n.*19C=) c.884C= (p.Pro295=) | |
17 | g.6425614G>T | CA397394452 | AIPL1 | c.1001C>A (p.Pro334His) c.812C>A (p.Pro271His) c.*873C>A (n.*873C>A) c.935C>A (p.Pro312His) c.251+8305C>A c.965C>A (p.Pro322His) c.*972C>A (n.*972C>A) c.821C>A (p.Pro274His) c.929C>A (p.Pro310His) c.*19C>A (n.*19C>A) c.884C>A (p.Pro295His) | |
17 | g.6425614_6425623del | CA2808334464 | AIPL1 | c.992_1001del (p.Ala331ValfsTer?) c.803_812del (p.Ala268ValfsTer?) c.*864_*873del (n.*864_*873del) c.926_935del (p.Ala309ValfsTer?) c.251+8296_251+8305del c.956_965del (p.Ala319ValfsTer?) c.*963_*972del (n.*963_*972del) c.812_821del (p.Ala271ValfsTer?) c.920_929del (p.Ala307ValfsTer?) c.*10_*19del (n.*10_*19del) c.875_884del (p.Ala292ValfsTer?) | |
17 | g.6425615G>A | CA397394455 | AIPL1 | c.1000C>T (p.Pro334Ser) c.811C>T (p.Pro271Ser) c.*872C>T (n.*872C>T) c.934C>T (p.Pro312Ser) c.251+8304C>T c.964C>T (p.Pro322Ser) c.*971C>T (n.*971C>T) c.820C>T (p.Pro274Ser) c.928C>T (p.Pro310Ser) c.*18C>T (n.*18C>T) c.883C>T (p.Pro295Ser) | dbSNP gnomAD v2 |
17 | g.6425615G>C | CA397394456 | AIPL1 | c.1000C>G (p.Pro334Ala) c.811C>G (p.Pro271Ala) c.*872C>G (n.*872C>G) c.934C>G (p.Pro312Ala) c.251+8304C>G c.964C>G (p.Pro322Ala) c.*971C>G (n.*971C>G) c.820C>G (p.Pro274Ala) c.928C>G (p.Pro310Ala) c.*18C>G (n.*18C>G) c.883C>G (p.Pro295Ala) | |
17 | g.6425615G= | CA2245346822 | AIPL1 | c.1000C= (p.Pro334=) c.811C= (p.Pro271=) c.*872C= (n.*872C=) c.934C= (p.Pro312=) c.251+8304C= c.964C= (p.Pro322=) c.*971C= (n.*971C=) c.820C= (p.Pro274=) c.928C= (p.Pro310=) c.*18C= (n.*18C=) c.883C= (p.Pro295=) | |
17 | g.6425615G>T | CA397394457 | AIPL1 | c.1000C>A (p.Pro334Thr) c.811C>A (p.Pro271Thr) c.*872C>A (n.*872C>A) c.934C>A (p.Pro312Thr) c.251+8304C>A c.964C>A (p.Pro322Thr) c.*971C>A (n.*971C>A) c.820C>A (p.Pro274Thr) c.928C>A (p.Pro310Thr) c.*18C>A (n.*18C>A) c.883C>A (p.Pro295Thr) | |
17 | g.6425616C>A | CA397394458 | AIPL1 | c.999G>T (p.Gln333His) c.810G>T (p.Gln270His) c.*871G>T (n.*871G>T) c.933G>T (p.Gln311His) c.251+8303G>T c.963G>T (p.Gln321His) c.*970G>T (n.*970G>T) c.819G>T (p.Gln273His) c.927G>T (p.Gln309His) c.*17G>T (n.*17G>T) c.882G>T (p.Gln294His) | |
17 | g.6425616C>G | CA397394459 | AIPL1 | c.999G>C (p.Gln333His) c.810G>C (p.Gln270His) c.*871G>C (n.*871G>C) c.933G>C (p.Gln311His) c.251+8303G>C c.963G>C (p.Gln321His) c.*970G>C (n.*970G>C) c.819G>C (p.Gln273His) c.927G>C (p.Gln309His) c.*17G>C (n.*17G>C) c.882G>C (p.Gln294His) | |
17 | g.6425616C>T | CA497687394 | AIPL1 | c.999G>A (p.Gln333=) c.810G>A (p.Gln270=) c.*871G>A (n.*871G>A) c.933G>A (p.Gln311=) c.251+8303G>A c.963G>A (p.Gln321=) c.*970G>A (n.*970G>A) c.819G>A (p.Gln273=) c.927G>A (p.Gln309=) c.*17G>A (n.*17G>A) c.882G>A (p.Gln294=) | gnomAD v4 |
17 | g.6425617T>A | CA397394460 | AIPL1 | c.998A>T (p.Gln333Leu) c.809A>T (p.Gln270Leu) c.*870A>T (n.*870A>T) c.932A>T (p.Gln311Leu) c.251+8302A>T c.962A>T (p.Gln321Leu) c.*969A>T (n.*969A>T) c.818A>T (p.Gln273Leu) c.926A>T (p.Gln309Leu) c.*16A>T (n.*16A>T) c.881A>T (p.Gln294Leu) | |
17 | g.6425617T>C | CA397394461 | AIPL1 | c.998A>G (p.Gln333Arg) c.809A>G (p.Gln270Arg) c.*870A>G (n.*870A>G) c.932A>G (p.Gln311Arg) c.251+8302A>G c.962A>G (p.Gln321Arg) c.*969A>G (n.*969A>G) c.818A>G (p.Gln273Arg) c.926A>G (p.Gln309Arg) c.*16A>G (n.*16A>G) c.881A>G (p.Gln294Arg) | gnomAD v4 |
17 | g.6425617T>G | CA397394462 | AIPL1 | c.998A>C (p.Gln333Pro) c.809A>C (p.Gln270Pro) c.*870A>C (n.*870A>C) c.932A>C (p.Gln311Pro) c.251+8302A>C c.962A>C (p.Gln321Pro) c.*969A>C (n.*969A>C) c.818A>C (p.Gln273Pro) c.926A>C (p.Gln309Pro) c.*16A>C (n.*16A>C) c.881A>C (p.Gln294Pro) | |
17 | g.6425618G>A | CA397394463 | AIPL1 | c.997C>T (p.Gln333Ter) c.808C>T (p.Gln270Ter) c.*869C>T (n.*869C>T) c.931C>T (p.Gln311Ter) c.251+8301C>T c.961C>T (p.Gln321Ter) c.*968C>T (n.*968C>T) c.817C>T (p.Gln273Ter) c.925C>T (p.Gln309Ter) c.*15C>T (n.*15C>T) c.880C>T (p.Gln294Ter) | dbSNP gnomAD v2 |
17 | g.6425618G>C | CA397394464 | AIPL1 | c.997C>G (p.Gln333Glu) c.808C>G (p.Gln270Glu) c.*869C>G (n.*869C>G) c.931C>G (p.Gln311Glu) c.251+8301C>G c.961C>G (p.Gln321Glu) c.*968C>G (n.*968C>G) c.817C>G (p.Gln273Glu) c.925C>G (p.Gln309Glu) c.*15C>G (n.*15C>G) c.880C>G (p.Gln294Glu) | |
17 | g.6425618G= | CA2245346824 | AIPL1 | c.997C= (p.Gln333=) c.808C= (p.Gln270=) c.*869C= (n.*869C=) c.931C= (p.Gln311=) c.251+8301C= c.961C= (p.Gln321=) c.*968C= (n.*968C=) c.817C= (p.Gln273=) c.925C= (p.Gln309=) c.*15C= (n.*15C=) c.880C= (p.Gln294=) | |
17 | g.6425618G>T | CA397394465 | AIPL1 | c.997C>A (p.Gln333Lys) c.808C>A (p.Gln270Lys) c.*869C>A (n.*869C>A) c.931C>A (p.Gln311Lys) c.251+8301C>A c.961C>A (p.Gln321Lys) c.*968C>A (n.*968C>A) c.817C>A (p.Gln273Lys) c.925C>A (p.Gln309Lys) c.*15C>A (n.*15C>A) c.880C>A (p.Gln294Lys) | |
17 | g.6425618_6425619insACTAACACT | CA2635688839 | AIPL1 | c.996_997insAGTGTTAGT (p.Thr332_Gln333insSerValSer) c.807_808insAGTGTTAGT (p.Thr269_Gln270insSerValSer) c.*868_*869insAGTGTTAGT (n.*868_*869insAGTGTTAGT) c.930_931insAGTGTTAGT (p.Thr310_Gln311insSerValSer) c.251+8300_251+8301insAGTGTTAGT c.960_961insAGTGTTAGT (p.Thr320_Gln321insSerValSer) c.*967_*968insAGTGTTAGT (n.*967_*968insAGTGTTAGT) c.816_817insAGTGTTAGT (p.Thr272_Gln273insSerValSer) c.924_925insAGTGTTAGT (p.Thr308_Gln309insSerValSer) c.*14_*15insAGTGTTAGT (n.*14_*15insAGTGTTAGT) c.879_880insAGTGTTAGT (p.Thr293_Gln294insSerValSer) | gnomAD v4 |
17 | g.6425619C>A | CA8328334 | AIPL1 | c.996G>T (p.Thr332=) c.807G>T (p.Thr269=) c.*868G>T (n.*868G>T) c.930G>T (p.Thr310=) c.251+8300G>T c.960G>T (p.Thr320=) c.*967G>T (n.*967G>T) c.816G>T (p.Thr272=) c.924G>T (p.Thr308=) c.*14G>T (n.*14G>T) c.879G>T (p.Thr293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425619C= | CA2245346827 | AIPL1 | c.996G= (p.Thr332=) c.807G= (p.Thr269=) c.*868G= (n.*868G=) c.930G= (p.Thr310=) c.251+8300G= c.960G= (p.Thr320=) c.*967G= (n.*967G=) c.816G= (p.Thr272=) c.924G= (p.Thr308=) c.*14G= (n.*14G=) c.879G= (p.Thr293=) | |
17 | g.6425619C>G | CA497687398 | AIPL1 | c.996G>C (p.Thr332=) c.807G>C (p.Thr269=) c.*868G>C (n.*868G>C) c.930G>C (p.Thr310=) c.251+8300G>C c.960G>C (p.Thr320=) c.*967G>C (n.*967G>C) c.816G>C (p.Thr272=) c.924G>C (p.Thr308=) c.*14G>C (n.*14G>C) c.879G>C (p.Thr293=) | |
17 | g.6425619C>T | CA497687399 | AIPL1 | c.996G>A (p.Thr332=) c.807G>A (p.Thr269=) c.*868G>A (n.*868G>A) c.930G>A (p.Thr310=) c.251+8300G>A c.960G>A (p.Thr320=) c.*967G>A (n.*967G>A) c.816G>A (p.Thr272=) c.924G>A (p.Thr308=) c.*14G>A (n.*14G>A) c.879G>A (p.Thr293=) | ClinVar gnomAD v4 |
17 | g.6425620G>A | CA287323767 | AIPL1 | c.995C>T (p.Thr332Met) c.806C>T (p.Thr269Met) c.*867C>T (n.*867C>T) c.929C>T (p.Thr310Met) c.251+8299C>T c.959C>T (p.Thr320Met) c.*966C>T (n.*966C>T) c.815C>T (p.Thr272Met) c.923C>T (p.Thr308Met) c.*13C>T (n.*13C>T) c.878C>T (p.Thr293Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425620G>C | CA8328335 | AIPL1 | c.995C>G (p.Thr332Arg) c.806C>G (p.Thr269Arg) c.*867C>G (n.*867C>G) c.929C>G (p.Thr310Arg) c.251+8299C>G c.959C>G (p.Thr320Arg) c.*966C>G (n.*966C>G) c.815C>G (p.Thr272Arg) c.923C>G (p.Thr308Arg) c.*13C>G (n.*13C>G) c.878C>G (p.Thr293Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.6425620G= | CA2245346832 | AIPL1 | c.995C= (p.Thr332=) c.806C= (p.Thr269=) c.*867C= (n.*867C=) c.929C= (p.Thr310=) c.251+8299C= c.959C= (p.Thr320=) c.*966C= (n.*966C=) c.815C= (p.Thr272=) c.923C= (p.Thr308=) c.*13C= (n.*13C=) c.878C= (p.Thr293=) | |
17 | g.6425620G>T | CA397394466 | AIPL1 | c.995C>A (p.Thr332Lys) c.806C>A (p.Thr269Lys) c.*867C>A (n.*867C>A) c.929C>A (p.Thr310Lys) c.251+8299C>A c.959C>A (p.Thr320Lys) c.*966C>A (n.*966C>A) c.815C>A (p.Thr272Lys) c.923C>A (p.Thr308Lys) c.*13C>A (n.*13C>A) c.878C>A (p.Thr293Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425621T>A | CA397394467 | AIPL1 | c.994A>T (p.Thr332Ser) c.805A>T (p.Thr269Ser) c.*866A>T (n.*866A>T) c.928A>T (p.Thr310Ser) c.251+8298A>T c.958A>T (p.Thr320Ser) c.*965A>T (n.*965A>T) c.814A>T (p.Thr272Ser) c.922A>T (p.Thr308Ser) c.*12A>T (n.*12A>T) c.877A>T (p.Thr293Ser) | gnomAD v4 |
17 | g.6425621T>C | CA397394468 | AIPL1 | c.994A>G (p.Thr332Ala) c.805A>G (p.Thr269Ala) c.*866A>G (n.*866A>G) c.928A>G (p.Thr310Ala) c.251+8298A>G c.958A>G (p.Thr320Ala) c.*965A>G (n.*965A>G) c.814A>G (p.Thr272Ala) c.922A>G (p.Thr308Ala) c.*12A>G (n.*12A>G) c.877A>G (p.Thr293Ala) | |
17 | g.6425621T>G | CA397394469 | AIPL1 | c.994A>C (p.Thr332Pro) c.805A>C (p.Thr269Pro) c.*866A>C (n.*866A>C) c.928A>C (p.Thr310Pro) c.251+8298A>C c.958A>C (p.Thr320Pro) c.*965A>C (n.*965A>C) c.814A>C (p.Thr272Pro) c.922A>C (p.Thr308Pro) c.*12A>C (n.*12A>C) c.877A>C (p.Thr293Pro) | |
17 | g.6425622G>A | CA497687402 | AIPL1 | c.993C>T (p.Ala331=) c.804C>T (p.Ala268=) c.*865C>T (n.*865C>T) c.927C>T (p.Ala309=) c.251+8297C>T c.957C>T (p.Ala319=) c.*964C>T (n.*964C>T) c.813C>T (p.Ala271=) c.921C>T (p.Ala307=) c.*11C>T (n.*11C>T) c.876C>T (p.Ala292=) | |
17 | g.6425622G>C | CA497687403 | AIPL1 | c.993C>G (p.Ala331=) c.804C>G (p.Ala268=) c.*865C>G (n.*865C>G) c.927C>G (p.Ala309=) c.251+8297C>G c.957C>G (p.Ala319=) c.*964C>G (n.*964C>G) c.813C>G (p.Ala271=) c.921C>G (p.Ala307=) c.*11C>G (n.*11C>G) c.876C>G (p.Ala292=) | |
17 | g.6425622G>T | CA497687404 | AIPL1 | c.993C>A (p.Ala331=) c.804C>A (p.Ala268=) c.*865C>A (n.*865C>A) c.927C>A (p.Ala309=) c.251+8297C>A c.957C>A (p.Ala319=) c.*964C>A (n.*964C>A) c.813C>A (p.Ala271=) c.921C>A (p.Ala307=) c.*11C>A (n.*11C>A) c.876C>A (p.Ala292=) | |
17 | g.6425622_6425652dup | CA2573054547 | AIPL1 | c.963_993dup (p.Thr332AlafsTer?) c.774_804dup (p.Thr269AlafsTer?) c.*835_*865dup (n.*835_*865dup) c.897_927dup (p.Thr310AlafsTer?) c.251+8267_251+8297dup c.927_957dup (p.Thr320AlafsTer?) c.*934_*964dup (n.*934_*964dup) c.783_813dup (p.Thr272AlafsTer?) c.891_921dup (p.Thr308AlafsTer?) c.962_*11dup (n.962_*11dup) c.846_876dup (p.Thr293AlafsTer?) | ClinVar dbSNP |
17 | g.6425623G>A | CA397394470 | AIPL1 | c.992C>T (p.Ala331Val) c.803C>T (p.Ala268Val) c.*864C>T (n.*864C>T) c.926C>T (p.Ala309Val) c.251+8296C>T c.956C>T (p.Ala319Val) c.*963C>T (n.*963C>T) c.812C>T (p.Ala271Val) c.920C>T (p.Ala307Val) c.*10C>T (n.*10C>T) c.875C>T (p.Ala292Val) | |
17 | g.6425623G>C | CA397394471 | AIPL1 | c.992C>G (p.Ala331Gly) c.803C>G (p.Ala268Gly) c.*864C>G (n.*864C>G) c.926C>G (p.Ala309Gly) c.251+8296C>G c.956C>G (p.Ala319Gly) c.*963C>G (n.*963C>G) c.812C>G (p.Ala271Gly) c.920C>G (p.Ala307Gly) c.*10C>G (n.*10C>G) c.875C>G (p.Ala292Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425623G>T | CA397394472 | AIPL1 | c.992C>A (p.Ala331Asp) c.803C>A (p.Ala268Asp) c.*864C>A (n.*864C>A) c.926C>A (p.Ala309Asp) c.251+8296C>A c.956C>A (p.Ala319Asp) c.*963C>A (n.*963C>A) c.812C>A (p.Ala271Asp) c.920C>A (p.Ala307Asp) c.*10C>A (n.*10C>A) c.875C>A (p.Ala292Asp) | gnomAD v4 |
17 | g.6425624C>A | CA397394475 | AIPL1 | c.991G>T (p.Ala331Ser) c.802G>T (p.Ala268Ser) c.*863G>T (n.*863G>T) c.925G>T (p.Ala309Ser) c.251+8295G>T c.955G>T (p.Ala319Ser) c.*962G>T (n.*962G>T) c.811G>T (p.Ala271Ser) c.919G>T (p.Ala307Ser) c.*9G>T (n.*9G>T) c.874G>T (p.Ala292Ser) | |
17 | g.6425624C>G | CA397394473 | AIPL1 | c.991G>C (p.Ala331Pro) c.802G>C (p.Ala268Pro) c.*863G>C (n.*863G>C) c.925G>C (p.Ala309Pro) c.251+8295G>C c.955G>C (p.Ala319Pro) c.*962G>C (n.*962G>C) c.811G>C (p.Ala271Pro) c.919G>C (p.Ala307Pro) c.*9G>C (n.*9G>C) c.874G>C (p.Ala292Pro) | |
17 | g.6425624C>T | CA397394474 | AIPL1 | c.991G>A (p.Ala331Thr) c.802G>A (p.Ala268Thr) c.*863G>A (n.*863G>A) c.925G>A (p.Ala309Thr) c.251+8295G>A c.955G>A (p.Ala319Thr) c.*962G>A (n.*962G>A) c.811G>A (p.Ala271Thr) c.919G>A (p.Ala307Thr) c.*9G>A (n.*9G>A) c.874G>A (p.Ala292Thr) | gnomAD v4 |
17 | g.6425625A= | CA2245346840 | AIPL1 | c.990T= (p.Gly330=) c.801T= (p.Gly267=) c.*862T= (n.*862T=) c.924T= (p.Gly308=) c.251+8294T= c.954T= (p.Gly318=) c.*961T= (n.*961T=) c.810T= (p.Gly270=) c.918T= (p.Gly306=) c.*8T= (n.*8T=) c.873T= (p.Gly291=) | |
17 | g.6425625A>C | CA497687409 | AIPL1 | c.990T>G (p.Gly330=) c.801T>G (p.Gly267=) c.*862T>G (n.*862T>G) c.924T>G (p.Gly308=) c.251+8294T>G c.954T>G (p.Gly318=) c.*961T>G (n.*961T>G) c.810T>G (p.Gly270=) c.918T>G (p.Gly306=) c.*8T>G (n.*8T>G) c.873T>G (p.Gly291=) | |
17 | g.6425625A>G | CA497687408 | AIPL1 | c.990T>C (p.Gly330=) c.801T>C (p.Gly267=) c.*862T>C (n.*862T>C) c.924T>C (p.Gly308=) c.251+8294T>C c.954T>C (p.Gly318=) c.*961T>C (n.*961T>C) c.810T>C (p.Gly270=) c.918T>C (p.Gly306=) c.*8T>C (n.*8T>C) c.873T>C (p.Gly291=) | dbSNP |
17 | g.6425625A>T | CA497687406 | AIPL1 | c.990T>A (p.Gly330=) c.801T>A (p.Gly267=) c.*862T>A (n.*862T>A) c.924T>A (p.Gly308=) c.251+8294T>A c.954T>A (p.Gly318=) c.*961T>A (n.*961T>A) c.810T>A (p.Gly270=) c.918T>A (p.Gly306=) c.*8T>A (n.*8T>A) c.873T>A (p.Gly291=) | |
17 | g.6425626C>A | CA397394476 | AIPL1 | c.989G>T (p.Gly330Val) c.800G>T (p.Gly267Val) c.*861G>T (n.*861G>T) c.923G>T (p.Gly308Val) c.251+8293G>T c.953G>T (p.Gly318Val) c.*960G>T (n.*960G>T) c.809G>T (p.Gly270Val) c.917G>T (p.Gly306Val) c.*7G>T (n.*7G>T) c.872G>T (p.Gly291Val) | |
17 | g.6425626C= | CA2245346842 | AIPL1 | c.989G= (p.Gly330=) c.800G= (p.Gly267=) c.*861G= (n.*861G=) c.923G= (p.Gly308=) c.251+8293G= c.953G= (p.Gly318=) c.*960G= (n.*960G=) c.809G= (p.Gly270=) c.917G= (p.Gly306=) c.*7G= (n.*7G=) c.872G= (p.Gly291=) | |
17 | g.6425626C>G | CA397394477 | AIPL1 | c.989G>C (p.Gly330Ala) c.800G>C (p.Gly267Ala) c.*861G>C (n.*861G>C) c.923G>C (p.Gly308Ala) c.251+8293G>C c.953G>C (p.Gly318Ala) c.*960G>C (n.*960G>C) c.809G>C (p.Gly270Ala) c.917G>C (p.Gly306Ala) c.*7G>C (n.*7G>C) c.872G>C (p.Gly291Ala) | |
17 | g.6425626C>T | CA8328336 | AIPL1 | c.989G>A (p.Gly330Asp) c.800G>A (p.Gly267Asp) c.*861G>A (n.*861G>A) c.923G>A (p.Gly308Asp) c.251+8293G>A c.953G>A (p.Gly318Asp) c.*960G>A (n.*960G>A) c.809G>A (p.Gly270Asp) c.917G>A (p.Gly306Asp) c.*7G>A (n.*7G>A) c.872G>A (p.Gly291Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425627C>A | CA397394478 | AIPL1 | c.988G>T (p.Gly330Cys) c.799G>T (p.Gly267Cys) c.*860G>T (n.*860G>T) c.922G>T (p.Gly308Cys) c.251+8292G>T c.952G>T (p.Gly318Cys) c.*959G>T (n.*959G>T) c.808G>T (p.Gly270Cys) c.916G>T (p.Gly306Cys) c.*6G>T (n.*6G>T) c.871G>T (p.Gly291Cys) | |
17 | g.6425627C= | CA2245346845 | AIPL1 | c.988G= (p.Gly330=) c.799G= (p.Gly267=) c.*860G= (n.*860G=) c.922G= (p.Gly308=) c.251+8292G= c.952G= (p.Gly318=) c.*959G= (n.*959G=) c.808G= (p.Gly270=) c.916G= (p.Gly306=) c.*6G= (n.*6G=) c.871G= (p.Gly291=) | |
17 | g.6425627C>G | CA397394479 | AIPL1 | c.988G>C (p.Gly330Arg) c.799G>C (p.Gly267Arg) c.*860G>C (n.*860G>C) c.922G>C (p.Gly308Arg) c.251+8292G>C c.952G>C (p.Gly318Arg) c.*959G>C (n.*959G>C) c.808G>C (p.Gly270Arg) c.916G>C (p.Gly306Arg) c.*6G>C (n.*6G>C) c.871G>C (p.Gly291Arg) | |
17 | g.6425627C>T | CA8328337 | AIPL1 | c.988G>A (p.Gly330Ser) c.799G>A (p.Gly267Ser) c.*860G>A (n.*860G>A) c.922G>A (p.Gly308Ser) c.251+8292G>A c.952G>A (p.Gly318Ser) c.*959G>A (n.*959G>A) c.808G>A (p.Gly270Ser) c.916G>A (p.Gly306Ser) c.*6G>A (n.*6G>A) c.871G>A (p.Gly291Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425628C>A | CA397394481 | AIPL1 | c.987G>T (p.Gln329His) c.798G>T (p.Gln266His) c.*859G>T (n.*859G>T) c.921G>T (p.Gln307His) c.251+8291G>T c.951G>T (p.Gln317His) c.*958G>T (n.*958G>T) c.807G>T (p.Gln269His) c.915G>T (p.Gln305His) c.*5G>T (n.*5G>T) c.870G>T (p.Gln290His) | |
17 | g.6425628C>G | CA397394480 | AIPL1 | c.987G>C (p.Gln329His) c.798G>C (p.Gln266His) c.*859G>C (n.*859G>C) c.921G>C (p.Gln307His) c.251+8291G>C c.951G>C (p.Gln317His) c.*958G>C (n.*958G>C) c.807G>C (p.Gln269His) c.915G>C (p.Gln305His) c.*5G>C (n.*5G>C) c.870G>C (p.Gln290His) | |
17 | g.6425628C>T | CA497687414 | AIPL1 | c.987G>A (p.Gln329=) c.798G>A (p.Gln266=) c.*859G>A (n.*859G>A) c.921G>A (p.Gln307=) c.251+8291G>A c.951G>A (p.Gln317=) c.*958G>A (n.*958G>A) c.807G>A (p.Gln269=) c.915G>A (p.Gln305=) c.*5G>A (n.*5G>A) c.870G>A (p.Gln290=) | |
17 | g.6425629T>A | CA397394482 | AIPL1 | c.986A>T (p.Gln329Leu) c.797A>T (p.Gln266Leu) c.*858A>T (n.*858A>T) c.920A>T (p.Gln307Leu) c.251+8290A>T c.950A>T (p.Gln317Leu) c.*957A>T (n.*957A>T) c.806A>T (p.Gln269Leu) c.914A>T (p.Gln305Leu) c.*4A>T (n.*4A>T) c.869A>T (p.Gln290Leu) | |
17 | g.6425629T>C | CA397394484 | AIPL1 | c.986A>G (p.Gln329Arg) c.797A>G (p.Gln266Arg) c.*858A>G (n.*858A>G) c.920A>G (p.Gln307Arg) c.251+8290A>G c.950A>G (p.Gln317Arg) c.*957A>G (n.*957A>G) c.806A>G (p.Gln269Arg) c.914A>G (p.Gln305Arg) c.*4A>G (n.*4A>G) c.869A>G (p.Gln290Arg) | dbSNP |
17 | g.6425629T>G | CA397394483 | AIPL1 | c.986A>C (p.Gln329Pro) c.797A>C (p.Gln266Pro) c.*858A>C (n.*858A>C) c.920A>C (p.Gln307Pro) c.251+8290A>C c.950A>C (p.Gln317Pro) c.*957A>C (n.*957A>C) c.806A>C (p.Gln269Pro) c.914A>C (p.Gln305Pro) c.*4A>C (n.*4A>C) c.869A>C (p.Gln290Pro) | |
17 | g.6425629T= | CA2245346848 | AIPL1 | c.986A= (p.Gln329=) c.797A= (p.Gln266=) c.*858A= (n.*858A=) c.920A= (p.Gln307=) c.251+8290A= c.950A= (p.Gln317=) c.*957A= (n.*957A=) c.806A= (p.Gln269=) c.914A= (p.Gln305=) c.*4A= (n.*4A=) c.869A= (p.Gln290=) | |
17 | g.6425630G>A | CA397394485 | AIPL1 | c.985C>T (p.Gln329Ter) c.796C>T (p.Gln266Ter) c.*857C>T (n.*857C>T) c.919C>T (p.Gln307Ter) c.251+8289C>T c.949C>T (p.Gln317Ter) c.*956C>T (n.*956C>T) c.805C>T (p.Gln269Ter) c.913C>T (p.Gln305Ter) c.*3C>T (n.*3C>T) c.868C>T (p.Gln290Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425630G>C | CA397394486 | AIPL1 | c.985C>G (p.Gln329Glu) c.796C>G (p.Gln266Glu) c.*857C>G (n.*857C>G) c.919C>G (p.Gln307Glu) c.251+8289C>G c.949C>G (p.Gln317Glu) c.*956C>G (n.*956C>G) c.805C>G (p.Gln269Glu) c.913C>G (p.Gln305Glu) c.*3C>G (n.*3C>G) c.868C>G (p.Gln290Glu) | |
17 | g.6425630G= | CA2245346853 | AIPL1 | c.985C= (p.Gln329=) c.796C= (p.Gln266=) c.*857C= (n.*857C=) c.919C= (p.Gln307=) c.251+8289C= c.949C= (p.Gln317=) c.*956C= (n.*956C=) c.805C= (p.Gln269=) c.913C= (p.Gln305=) c.*3C= (n.*3C=) c.868C= (p.Gln290=) | |
17 | g.6425630G>T | CA397394487 | AIPL1 | c.985C>A (p.Gln329Lys) c.796C>A (p.Gln266Lys) c.*857C>A (n.*857C>A) c.919C>A (p.Gln307Lys) c.251+8289C>A c.949C>A (p.Gln317Lys) c.*956C>A (n.*956C>A) c.805C>A (p.Gln269Lys) c.913C>A (p.Gln305Lys) c.*3C>A (n.*3C>A) c.868C>A (p.Gln290Lys) | gnomAD v4 COSMIC |
17 | g.6425631G>A | CA497687417 | AIPL1 | c.984C>T (p.Ser328=) c.795C>T (p.Ser265=) c.*856C>T (n.*856C>T) c.918C>T (p.Ser306=) c.251+8288C>T c.948C>T (p.Ser316=) c.*955C>T (n.*955C>T) c.804C>T (p.Ser268=) c.912C>T (p.Ser304=) c.*2C>T (n.*2C>T) c.867C>T (p.Ser289=) | |
17 | g.6425631G>C | CA397394488 | AIPL1 | c.984C>G (p.Ser328Arg) c.795C>G (p.Ser265Arg) c.*856C>G (n.*856C>G) c.918C>G (p.Ser306Arg) c.251+8288C>G c.948C>G (p.Ser316Arg) c.*955C>G (n.*955C>G) c.804C>G (p.Ser268Arg) c.912C>G (p.Ser304Arg) c.*2C>G (n.*2C>G) c.867C>G (p.Ser289Arg) | |
17 | g.6425631G>T | CA397394489 | AIPL1 | c.984C>A (p.Ser328Arg) c.795C>A (p.Ser265Arg) c.*856C>A (n.*856C>A) c.918C>A (p.Ser306Arg) c.251+8288C>A c.948C>A (p.Ser316Arg) c.*955C>A (n.*955C>A) c.804C>A (p.Ser268Arg) c.912C>A (p.Ser304Arg) c.*2C>A (n.*2C>A) c.867C>A (p.Ser289Arg) | gnomAD v4 |
17 | g.6425632C>A | CA397394490 | AIPL1 | c.983G>T (p.Ser328Ile) c.794G>T (p.Ser265Ile) c.*855G>T (n.*855G>T) c.917G>T (p.Ser306Ile) c.251+8287G>T c.947G>T (p.Ser316Ile) c.*954G>T (n.*954G>T) c.803G>T (p.Ser268Ile) c.911G>T (p.Ser304Ile) c.*1G>T (n.*1G>T) c.866G>T (p.Ser289Ile) | gnomAD v4 |
17 | g.6425632C= | CA2245346858 | AIPL1 | c.983G= (p.Ser328=) c.794G= (p.Ser265=) c.*855G= (n.*855G=) c.917G= (p.Ser306=) c.251+8287G= c.947G= (p.Ser316=) c.*954G= (n.*954G=) c.803G= (p.Ser268=) c.911G= (p.Ser304=) c.*1G= (n.*1G=) c.866G= (p.Ser289=) | |
17 | g.6425632C>G | CA397394491 | AIPL1 | c.983G>C (p.Ser328Thr) c.794G>C (p.Ser265Thr) c.*855G>C (n.*855G>C) c.917G>C (p.Ser306Thr) c.251+8287G>C c.947G>C (p.Ser316Thr) c.*954G>C (n.*954G>C) c.803G>C (p.Ser268Thr) c.911G>C (p.Ser304Thr) c.*1G>C (n.*1G>C) c.866G>C (p.Ser289Thr) | ClinVar dbSNP |
17 | g.6425632C>T | CA397394492 | AIPL1 | c.983G>A (p.Ser328Asn) c.794G>A (p.Ser265Asn) c.*855G>A (n.*855G>A) c.917G>A (p.Ser306Asn) c.251+8287G>A c.947G>A (p.Ser316Asn) c.*954G>A (n.*954G>A) c.803G>A (p.Ser268Asn) c.911G>A (p.Ser304Asn) c.*1G>A (n.*1G>A) c.866G>A (p.Ser289Asn) | gnomAD v4 |
17 | g.6425633T>A | CA397394493 | AIPL1 | c.982A>T (p.Ser328Cys) c.793A>T (p.Ser265Cys) c.*854A>T (n.*854A>T) c.916A>T (p.Ser306Cys) c.251+8286A>T c.946A>T (p.Ser316Cys) c.*953A>T (n.*953A>T) c.802A>T (p.Ser268Cys) c.910A>T (p.Ser304Cys) c.981A>T (p.Ter327Cys) c.865A>T (p.Ser289Cys) | |
17 | g.6425633T>C | CA397394495 | AIPL1 | c.982A>G (p.Ser328Gly) c.793A>G (p.Ser265Gly) c.*854A>G (n.*854A>G) c.916A>G (p.Ser306Gly) c.251+8286A>G c.946A>G (p.Ser316Gly) c.*953A>G (n.*953A>G) c.802A>G (p.Ser268Gly) c.910A>G (p.Ser304Gly) c.981A>G (p.Ter327Trp) c.865A>G (p.Ser289Gly) | |
17 | g.6425633T>G | CA397394494 | AIPL1 | c.982A>C (p.Ser328Arg) c.793A>C (p.Ser265Arg) c.*854A>C (n.*854A>C) c.916A>C (p.Ser306Arg) c.251+8286A>C c.946A>C (p.Ser316Arg) c.*953A>C (n.*953A>C) c.802A>C (p.Ser268Arg) c.910A>C (p.Ser304Arg) c.981A>C (p.Ter327Cys) c.865A>C (p.Ser289Arg) | |
17 | g.6425634C>A | CA397394496 | AIPL1 | c.981G>T (p.Leu327=) c.792G>T (p.Leu264=) c.*853G>T (n.*853G>T) c.915G>T (p.Leu305=) c.251+8285G>T c.945G>T (p.Leu315=) c.*952G>T (n.*952G>T) c.801G>T (p.Leu267=) c.909G>T (p.Leu303=) c.980G>T (p.Ter327Leu) c.864G>T (p.Leu288=) | |
17 | g.6425634C= | CA2245346860 | AIPL1 | c.981G= (p.Leu327=) c.792G= (p.Leu264=) c.*853G= (n.*853G=) c.915G= (p.Leu305=) c.251+8285G= c.945G= (p.Leu315=) c.*952G= (n.*952G=) c.801G= (p.Leu267=) c.909G= (p.Leu303=) c.980G= (p.Ter327=) c.864G= (p.Leu288=) | |
17 | g.6425634C>G | CA397394497 | AIPL1 | c.981G>C (p.Leu327=) c.792G>C (p.Leu264=) c.*853G>C (n.*853G>C) c.915G>C (p.Leu305=) c.251+8285G>C c.945G>C (p.Leu315=) c.*952G>C (n.*952G>C) c.801G>C (p.Leu267=) c.909G>C (p.Leu303=) c.980G>C (p.Ter327Ser) c.864G>C (p.Leu288=) | |
17 | g.6425634C>T | CA497687418 | AIPL1 | c.981G>A (p.Leu327=) c.792G>A (p.Leu264=) c.*853G>A (n.*853G>A) c.915G>A (p.Leu305=) c.251+8285G>A c.945G>A (p.Leu315=) c.*952G>A (n.*952G>A) c.801G>A (p.Leu267=) c.909G>A (p.Leu303=) c.980G>A (p.Ter327=) c.864G>A (p.Leu288=) | ClinVar dbSNP |
17 | g.6425635A>C | CA397394498 | AIPL1 | c.980T>G (p.Leu327Arg) c.791T>G (p.Leu264Arg) c.*852T>G (n.*852T>G) c.914T>G (p.Leu305Arg) c.251+8284T>G c.944T>G (p.Leu315Arg) c.*951T>G (n.*951T>G) c.800T>G (p.Leu267Arg) c.908T>G (p.Leu303Arg) c.979T>G (p.Ter327Gly) c.863T>G (p.Leu288Arg) | |
17 | g.6425635A>G | CA397394499 | AIPL1 | c.980T>C (p.Leu327Pro) c.791T>C (p.Leu264Pro) c.*852T>C (n.*852T>C) c.914T>C (p.Leu305Pro) c.251+8284T>C c.944T>C (p.Leu315Pro) c.*951T>C (n.*951T>C) c.800T>C (p.Leu267Pro) c.908T>C (p.Leu303Pro) c.979T>C (p.Ter327Arg) c.863T>C (p.Leu288Pro) | |
17 | g.6425635A>T | CA397394500 | AIPL1 | c.980T>A (p.Leu327Gln) c.791T>A (p.Leu264Gln) c.*852T>A (n.*852T>A) c.914T>A (p.Leu305Gln) c.251+8284T>A c.944T>A (p.Leu315Gln) c.*951T>A (n.*951T>A) c.800T>A (p.Leu267Gln) c.908T>A (p.Leu303Gln) c.979T>A (p.Ter327Arg) c.863T>A (p.Leu288Gln) | |
17 | g.6425636G>A | CA287323771 | AIPL1 | c.979C>T (p.Leu327=) c.790C>T (p.Leu264=) c.*851C>T (n.*851C>T) c.913C>T (p.Leu305=) c.251+8283C>T c.943C>T (p.Leu315=) c.*950C>T (n.*950C>T) c.799C>T (p.Leu267=) c.907C>T (p.Leu303=) c.978C>T (p.Cys326=) c.862C>T (p.Leu288=) | dbSNP |
17 | g.6425636G>C | CA397394502 | AIPL1 | c.979C>G (p.Leu327Val) c.790C>G (p.Leu264Val) c.*851C>G (n.*851C>G) c.913C>G (p.Leu305Val) c.251+8283C>G c.943C>G (p.Leu315Val) c.*950C>G (n.*950C>G) c.799C>G (p.Leu267Val) c.907C>G (p.Leu303Val) c.978C>G (p.Cys326Trp) c.862C>G (p.Leu288Val) | |
17 | g.6425636G= | CA2245346863 | AIPL1 | c.979C= (p.Leu327=) c.790C= (p.Leu264=) c.*851C= (n.*851C=) c.913C= (p.Leu305=) c.251+8283C= c.943C= (p.Leu315=) c.*950C= (n.*950C=) c.799C= (p.Leu267=) c.907C= (p.Leu303=) c.978C= (p.Cys326=) c.862C= (p.Leu288=) | |
17 | g.6425636G>T | CA397394501 | AIPL1 | c.979C>A (p.Leu327Met) c.790C>A (p.Leu264Met) c.*851C>A (n.*851C>A) c.913C>A (p.Leu305Met) c.251+8283C>A c.943C>A (p.Leu315Met) c.*950C>A (n.*950C>A) c.799C>A (p.Leu267Met) c.907C>A (p.Leu303Met) c.978C>A (p.Cys326Ter) c.862C>A (p.Leu288Met) | gnomAD v4 |
17 | g.6425637C>A | CA397394503 | AIPL1 | c.978G>T (p.Met326Ile) c.789G>T (p.Met263Ile) c.*850G>T (n.*850G>T) c.912G>T (p.Met304Ile) c.251+8282G>T c.942G>T (p.Met314Ile) c.*949G>T (n.*949G>T) c.798G>T (p.Met266Ile) c.906G>T (p.Met302Ile) c.977G>T (p.Cys326Phe) c.861G>T (p.Met287Ile) | |
17 | g.6425637C>G | CA397394504 | AIPL1 | c.978G>C (p.Met326Ile) c.789G>C (p.Met263Ile) c.*850G>C (n.*850G>C) c.912G>C (p.Met304Ile) c.251+8282G>C c.942G>C (p.Met314Ile) c.*949G>C (n.*949G>C) c.798G>C (p.Met266Ile) c.906G>C (p.Met302Ile) c.977G>C (p.Cys326Ser) c.861G>C (p.Met287Ile) | |
17 | g.6425637C>T | CA397394505 | AIPL1 | c.978G>A (p.Met326Ile) c.789G>A (p.Met263Ile) c.*850G>A (n.*850G>A) c.912G>A (p.Met304Ile) c.251+8282G>A c.942G>A (p.Met314Ile) c.*949G>A (n.*949G>A) c.798G>A (p.Met266Ile) c.906G>A (p.Met302Ile) c.977G>A (p.Cys326Tyr) c.861G>A (p.Met287Ile) | |
17 | g.6425638A>C | CA397394506 | AIPL1 | c.977T>G (p.Met326Arg) c.788T>G (p.Met263Arg) c.*849T>G (n.*849T>G) c.911T>G (p.Met304Arg) c.251+8281T>G c.941T>G (p.Met314Arg) c.*948T>G (n.*948T>G) c.797T>G (p.Met266Arg) c.905T>G (p.Met302Arg) c.976T>G (p.Cys326Gly) c.860T>G (p.Met287Arg) | |
17 | g.6425638A>G | CA397394507 | AIPL1 | c.977T>C (p.Met326Thr) c.788T>C (p.Met263Thr) c.*849T>C (n.*849T>C) c.911T>C (p.Met304Thr) c.251+8281T>C c.941T>C (p.Met314Thr) c.*948T>C (n.*948T>C) c.797T>C (p.Met266Thr) c.905T>C (p.Met302Thr) c.976T>C (p.Cys326Arg) c.860T>C (p.Met287Thr) | gnomAD v4 |
17 | g.6425638A>T | CA397394508 | AIPL1 | c.977T>A (p.Met326Lys) c.788T>A (p.Met263Lys) c.*849T>A (n.*849T>A) c.911T>A (p.Met304Lys) c.251+8281T>A c.941T>A (p.Met314Lys) c.*948T>A (n.*948T>A) c.797T>A (p.Met266Lys) c.905T>A (p.Met302Lys) c.976T>A (p.Cys326Ser) c.860T>A (p.Met287Lys) | |
17 | g.6425639T>A | CA397394509 | AIPL1 | c.976A>T (p.Met326Leu) c.787A>T (p.Met263Leu) c.*848A>T (n.*848A>T) c.910A>T (p.Met304Leu) c.251+8280A>T c.940A>T (p.Met314Leu) c.*947A>T (n.*947A>T) c.796A>T (p.Met266Leu) c.904A>T (p.Met302Leu) c.975A>T (p.Thr325=) c.859A>T (p.Met287Leu) | |
17 | g.6425639T>C | CA397394510 | AIPL1 | c.976A>G (p.Met326Val) c.787A>G (p.Met263Val) c.*848A>G (n.*848A>G) c.910A>G (p.Met304Val) c.251+8280A>G c.940A>G (p.Met314Val) c.*947A>G (n.*947A>G) c.796A>G (p.Met266Val) c.904A>G (p.Met302Val) c.975A>G (p.Thr325=) c.859A>G (p.Met287Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425639T>G | CA397394511 | AIPL1 | c.976A>C (p.Met326Leu) c.787A>C (p.Met263Leu) c.*848A>C (n.*848A>C) c.910A>C (p.Met304Leu) c.251+8280A>C c.940A>C (p.Met314Leu) c.*947A>C (n.*947A>C) c.796A>C (p.Met266Leu) c.904A>C (p.Met302Leu) c.975A>C (p.Thr325=) c.859A>C (p.Met287Leu) | |
17 | g.6425639T= | CA2245346866 | AIPL1 | c.976A= (p.Met326=) c.787A= (p.Met263=) c.*848A= (n.*848A=) c.910A= (p.Met304=) c.251+8280A= c.940A= (p.Met314=) c.*947A= (n.*947A=) c.796A= (p.Met266=) c.904A= (p.Met302=) c.975A= (p.Thr325=) c.859A= (p.Met287=) | |
17 | g.6425640G>A | CA397394512 | AIPL1 | c.975C>T (p.Asn325=) c.786C>T (p.Asn262=) c.*847C>T (n.*847C>T) c.909C>T (p.Asn303=) c.251+8279C>T c.939C>T (p.Asn313=) c.*946C>T (n.*946C>T) c.795C>T (p.Asn265=) c.903C>T (p.Asn301=) c.974C>T (p.Thr325Ile) c.858C>T (p.Asn286=) | dbSNP |
17 | g.6425640G>C | CA397394513 | AIPL1 | c.975C>G (p.Asn325Lys) c.786C>G (p.Asn262Lys) c.*847C>G (n.*847C>G) c.909C>G (p.Asn303Lys) c.251+8279C>G c.939C>G (p.Asn313Lys) c.*946C>G (n.*946C>G) c.795C>G (p.Asn265Lys) c.903C>G (p.Asn301Lys) c.974C>G (p.Thr325Arg) c.858C>G (p.Asn286Lys) | |
17 | g.6425640G>T | CA397394514 | AIPL1 | c.975C>A (p.Asn325Lys) c.786C>A (p.Asn262Lys) c.*847C>A (n.*847C>A) c.909C>A (p.Asn303Lys) c.251+8279C>A c.939C>A (p.Asn313Lys) c.*946C>A (n.*946C>A) c.795C>A (p.Asn265Lys) c.903C>A (p.Asn301Lys) c.974C>A (p.Thr325Lys) c.858C>A (p.Asn286Lys) | gnomAD v4 |
17 | g.6425641T>A | CA397394515 | AIPL1 | c.974A>T (p.Asn325Ile) c.785A>T (p.Asn262Ile) c.*846A>T (n.*846A>T) c.908A>T (p.Asn303Ile) c.251+8278A>T c.938A>T (p.Asn313Ile) c.*945A>T (n.*945A>T) c.794A>T (p.Asn265Ile) c.902A>T (p.Asn301Ile) c.973A>T (p.Thr325Ser) c.857A>T (p.Asn286Ile) | |
17 | g.6425641T>C | CA397394517 | AIPL1 | c.974A>G (p.Asn325Ser) c.785A>G (p.Asn262Ser) c.*846A>G (n.*846A>G) c.908A>G (p.Asn303Ser) c.251+8278A>G c.938A>G (p.Asn313Ser) c.*945A>G (n.*945A>G) c.794A>G (p.Asn265Ser) c.902A>G (p.Asn301Ser) c.973A>G (p.Thr325Ala) c.857A>G (p.Asn286Ser) | gnomAD v4 |
17 | g.6425641T>G | CA397394516 | AIPL1 | c.974A>C (p.Asn325Thr) c.785A>C (p.Asn262Thr) c.*846A>C (n.*846A>C) c.908A>C (p.Asn303Thr) c.251+8278A>C c.938A>C (p.Asn313Thr) c.*945A>C (n.*945A>C) c.794A>C (p.Asn265Thr) c.902A>C (p.Asn301Thr) c.973A>C (p.Thr325Pro) c.857A>C (p.Asn286Thr) | |
17 | g.6425642T>A | CA397394518 | AIPL1 | c.973A>T (p.Asn325Tyr) c.784A>T (p.Asn262Tyr) c.*845A>T (n.*845A>T) c.907A>T (p.Asn303Tyr) c.251+8277A>T c.937A>T (p.Asn313Tyr) c.*944A>T (n.*944A>T) c.793A>T (p.Asn265Tyr) c.901A>T (p.Asn301Tyr) c.972A>T (p.Gly324=) c.856A>T (p.Asn286Tyr) | |
17 | g.6425642T>C | CA397394519 | AIPL1 | c.973A>G (p.Asn325Asp) c.784A>G (p.Asn262Asp) c.*845A>G (n.*845A>G) c.907A>G (p.Asn303Asp) c.251+8277A>G c.937A>G (p.Asn313Asp) c.*944A>G (n.*944A>G) c.793A>G (p.Asn265Asp) c.901A>G (p.Asn301Asp) c.972A>G (p.Gly324=) c.856A>G (p.Asn286Asp) | |
17 | g.6425642T>G | CA397394520 | AIPL1 | c.973A>C (p.Asn325His) c.784A>C (p.Asn262His) c.*845A>C (n.*845A>C) c.907A>C (p.Asn303His) c.251+8277A>C c.937A>C (p.Asn313His) c.*944A>C (n.*944A>C) c.793A>C (p.Asn265His) c.901A>C (p.Asn301His) c.972A>C (p.Gly324=) c.856A>C (p.Asn286His) | |
17 | g.6425642_6425643delinsTC | CA2245346869 | AIPL1 | c.972_973delinsGA (p.Arg324=) c.783_784delinsGA (p.Arg261=) c.*844_*845delinsGA (n.*844_*845delinsGA) c.906_907delinsGA (p.Arg302=) c.251+8276_251+8277delinsGA c.936_937delinsGA (p.Arg312=) c.*943_*944delinsGA (n.*943_*944delinsGA) c.792_793delinsGA (p.Arg264=) c.900_901delinsGA (p.Arg300=) c.971_972delinsGA (p.Gly324=) c.855_856delinsGA (p.Arg285=) | |
17 | g.6425643C>A | CA397394521 | AIPL1 | c.972G>T (p.Arg324=) c.783G>T (p.Arg261=) c.*844G>T (n.*844G>T) c.906G>T (p.Arg302=) c.251+8276G>T c.936G>T (p.Arg312=) c.*943G>T (n.*943G>T) c.792G>T (p.Arg264=) c.900G>T (p.Arg300=) c.971G>T (p.Gly324Val) c.855G>T (p.Arg285=) | ClinVar gnomAD v4 |
17 | g.6425643C= | CA2245346871 | AIPL1 | c.972G= (p.Arg324=) c.783G= (p.Arg261=) c.*844G= (n.*844G=) c.906G= (p.Arg302=) c.251+8276G= c.936G= (p.Arg312=) c.*943G= (n.*943G=) c.792G= (p.Arg264=) c.900G= (p.Arg300=) c.971G= (p.Gly324=) c.855G= (p.Arg285=) | |
17 | g.6425643C>G | CA397394522 | AIPL1 | c.972G>C (p.Arg324=) c.783G>C (p.Arg261=) c.*844G>C (n.*844G>C) c.906G>C (p.Arg302=) c.251+8276G>C c.936G>C (p.Arg312=) c.*943G>C (n.*943G>C) c.792G>C (p.Arg264=) c.900G>C (p.Arg300=) c.971G>C (p.Gly324Ala) c.855G>C (p.Arg285=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425643C>T | CA397394523 | AIPL1 | c.972G>A (p.Arg324=) c.783G>A (p.Arg261=) c.*844G>A (n.*844G>A) c.906G>A (p.Arg302=) c.251+8276G>A c.936G>A (p.Arg312=) c.*943G>A (n.*943G>A) c.792G>A (p.Arg264=) c.900G>A (p.Arg300=) c.971G>A (p.Gly324Glu) c.855G>A (p.Arg285=) | gnomAD v4 |
17 | g.6425644del | CA981100671 | AIPL1 | c.972del (p.Asn325ThrfsTer3) c.783del (p.Asn262ThrfsTer3) c.*844del (n.*844del) c.906del (p.Asn303ThrfsTer3) c.251+8276del c.936del (p.Asn313ThrfsTer3) c.*943del (n.*943del) c.792del (p.Asn265ThrfsTer3) c.900del (p.Asn301ThrfsTer3) c.971del (p.Gly324GlufsTer?) c.855del (p.Asn286ThrfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425644C>A | CA246741 | AIPL1 | c.971G>T (p.Arg324Leu) c.782G>T (p.Arg261Leu) c.*843G>T (n.*843G>T) c.905G>T (p.Arg302Leu) c.251+8275G>T c.935G>T (p.Arg312Leu) c.*942G>T (n.*942G>T) c.791G>T (p.Arg264Leu) c.899G>T (p.Arg300Leu) c.970G>T (p.Gly324Ter) c.854G>T (p.Arg285Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425644C= | CA2245346880 | AIPL1 | c.971G= (p.Arg324=) c.782G= (p.Arg261=) c.*843G= (n.*843G=) c.905G= (p.Arg302=) c.251+8275G= c.935G= (p.Arg312=) c.*942G= (n.*942G=) c.791G= (p.Arg264=) c.899G= (p.Arg300=) c.970G= (p.Gly324=) c.854G= (p.Arg285=) | |
17 | g.6425644C>G | CA397394524 | AIPL1 | c.971G>C (p.Arg324Pro) c.782G>C (p.Arg261Pro) c.*843G>C (n.*843G>C) c.905G>C (p.Arg302Pro) c.251+8275G>C c.935G>C (p.Arg312Pro) c.*942G>C (n.*942G>C) c.791G>C (p.Arg264Pro) c.899G>C (p.Arg300Pro) c.970G>C (p.Gly324Arg) c.854G>C (p.Arg285Pro) | gnomAD v4 |
17 | g.6425644C>T | CA8328338 | AIPL1 | c.971G>A (p.Arg324Gln) c.782G>A (p.Arg261Gln) c.*843G>A (n.*843G>A) c.905G>A (p.Arg302Gln) c.251+8275G>A c.935G>A (p.Arg312Gln) c.*942G>A (n.*942G>A) c.791G>A (p.Arg264Gln) c.899G>A (p.Arg300Gln) c.970G>A (p.Gly324Arg) c.854G>A (p.Arg285Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425645G>A | CA8328340 | AIPL1 | c.970C>T (p.Arg324Trp) c.781C>T (p.Arg261Trp) c.*842C>T (n.*842C>T) c.904C>T (p.Arg302Trp) c.251+8274C>T c.934C>T (p.Arg312Trp) c.*941C>T (n.*941C>T) c.790C>T (p.Arg264Trp) c.898C>T (p.Arg300Trp) c.969C>T (p.Ala323=) c.853C>T (p.Arg285Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425645G>C | CA397394525 | AIPL1 | c.970C>G (p.Arg324Gly) c.781C>G (p.Arg261Gly) c.*842C>G (n.*842C>G) c.904C>G (p.Arg302Gly) c.251+8274C>G c.934C>G (p.Arg312Gly) c.*941C>G (n.*941C>G) c.790C>G (p.Arg264Gly) c.898C>G (p.Arg300Gly) c.969C>G (p.Ala323=) c.853C>G (p.Arg285Gly) | |
17 | g.6425645G= | CA2245346888 | AIPL1 | c.970C= (p.Arg324=) c.781C= (p.Arg261=) c.*842C= (n.*842C=) c.904C= (p.Arg302=) c.251+8274C= c.934C= (p.Arg312=) c.*941C= (n.*941C=) c.790C= (p.Arg264=) c.898C= (p.Arg300=) c.969C= (p.Ala323=) c.853C= (p.Arg285=) | |
17 | g.6425645G>T | CA8328339 | AIPL1 | c.970C>A (p.Arg324=) c.781C>A (p.Arg261=) c.*842C>A (n.*842C>A) c.904C>A (p.Arg302=) c.251+8274C>A c.934C>A (p.Arg312=) c.*941C>A (n.*941C>A) c.790C>A (p.Arg264=) c.898C>A (p.Arg300=) c.969C>A (p.Ala323=) c.853C>A (p.Arg285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425646G>A | CA8328341 | AIPL1 | c.969C>T (p.Cys323=) c.780C>T (p.Cys260=) c.*841C>T (n.*841C>T) c.903C>T (p.Cys301=) c.251+8273C>T c.933C>T (p.Cys311=) c.*940C>T (n.*940C>T) c.789C>T (p.Cys263=) c.897C>T (p.Cys299=) c.968C>T (p.Ala323Val) c.852C>T (p.Cys284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425646G>C | CA397394527 | AIPL1 | c.969C>G (p.Cys323Trp) c.780C>G (p.Cys260Trp) c.*841C>G (n.*841C>G) c.903C>G (p.Cys301Trp) c.251+8273C>G c.933C>G (p.Cys311Trp) c.*940C>G (n.*940C>G) c.789C>G (p.Cys263Trp) c.897C>G (p.Cys299Trp) c.968C>G (p.Ala323Gly) c.852C>G (p.Cys284Trp) | |
17 | g.6425646G= | CA2245346891 | AIPL1 | c.969C= (p.Cys323=) c.780C= (p.Cys260=) c.*841C= (n.*841C=) c.903C= (p.Cys301=) c.251+8273C= c.933C= (p.Cys311=) c.*940C= (n.*940C=) c.789C= (p.Cys263=) c.897C= (p.Cys299=) c.968C= (p.Ala323=) c.852C= (p.Cys284=) | |
17 | g.6425646G>T | CA397394526 | AIPL1 | c.969C>A (p.Cys323Ter) c.780C>A (p.Cys260Ter) c.*841C>A (n.*841C>A) c.903C>A (p.Cys301Ter) c.251+8273C>A c.933C>A (p.Cys311Ter) c.*940C>A (n.*940C>A) c.789C>A (p.Cys263Ter) c.897C>A (p.Cys299Ter) c.968C>A (p.Ala323Asp) c.852C>A (p.Cys284Ter) | |
17 | g.6425647C>A | CA397394528 | AIPL1 | c.968G>T (p.Cys323Phe) c.779G>T (p.Cys260Phe) c.*840G>T (n.*840G>T) c.902G>T (p.Cys301Phe) c.251+8272G>T c.932G>T (p.Cys311Phe) c.*939G>T (n.*939G>T) c.788G>T (p.Cys263Phe) c.896G>T (p.Cys299Phe) c.967G>T (p.Ala323Ser) c.851G>T (p.Cys284Phe) | |
17 | g.6425647C>G | CA397394529 | AIPL1 | c.968G>C (p.Cys323Ser) c.779G>C (p.Cys260Ser) c.*840G>C (n.*840G>C) c.902G>C (p.Cys301Ser) c.251+8272G>C c.932G>C (p.Cys311Ser) c.*939G>C (n.*939G>C) c.788G>C (p.Cys263Ser) c.896G>C (p.Cys299Ser) c.967G>C (p.Ala323Pro) c.851G>C (p.Cys284Ser) | |
17 | g.6425647C>T | CA397394530 | AIPL1 | c.968G>A (p.Cys323Tyr) c.779G>A (p.Cys260Tyr) c.*840G>A (n.*840G>A) c.902G>A (p.Cys301Tyr) c.251+8272G>A c.932G>A (p.Cys311Tyr) c.*939G>A (n.*939G>A) c.788G>A (p.Cys263Tyr) c.896G>A (p.Cys299Tyr) c.967G>A (p.Ala323Thr) c.851G>A (p.Cys284Tyr) | |
17 | g.6425648A>C | CA397394531 | AIPL1 | c.967T>G (p.Cys323Gly) c.778T>G (p.Cys260Gly) c.*839T>G (n.*839T>G) c.901T>G (p.Cys301Gly) c.251+8271T>G c.931T>G (p.Cys311Gly) c.*938T>G (n.*938T>G) c.787T>G (p.Cys263Gly) c.895T>G (p.Cys299Gly) c.966T>G (p.Ala322=) c.850T>G (p.Cys284Gly) | |
17 | g.6425648A>G | CA397394532 | AIPL1 | c.967T>C (p.Cys323Arg) c.778T>C (p.Cys260Arg) c.*839T>C (n.*839T>C) c.901T>C (p.Cys301Arg) c.251+8271T>C c.931T>C (p.Cys311Arg) c.*938T>C (n.*938T>C) c.787T>C (p.Cys263Arg) c.895T>C (p.Cys299Arg) c.966T>C (p.Ala322=) c.850T>C (p.Cys284Arg) | |
17 | g.6425648A>T | CA397394533 | AIPL1 | c.967T>A (p.Cys323Ser) c.778T>A (p.Cys260Ser) c.*839T>A (n.*839T>A) c.901T>A (p.Cys301Ser) c.251+8271T>A c.931T>A (p.Cys311Ser) c.*938T>A (n.*938T>A) c.787T>A (p.Cys263Ser) c.895T>A (p.Cys299Ser) c.966T>A (p.Ala322=) c.850T>A (p.Cys284Ser) | |
17 | g.6425649G>A | CA8328342 | AIPL1 | c.966C>T (p.Arg322=) c.777C>T (p.Arg259=) c.*838C>T (n.*838C>T) c.900C>T (p.Arg300=) c.251+8270C>T c.930C>T (p.Arg310=) c.*937C>T (n.*937C>T) c.786C>T (p.Arg262=) c.894C>T (p.Arg298=) c.965C>T (p.Ala322Val) c.849C>T (p.Arg283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425649G>C | CA397394534 | AIPL1 | c.966C>G (p.Arg322=) c.777C>G (p.Arg259=) c.*838C>G (n.*838C>G) c.900C>G (p.Arg300=) c.251+8270C>G c.930C>G (p.Arg310=) c.*937C>G (n.*937C>G) c.786C>G (p.Arg262=) c.894C>G (p.Arg298=) c.965C>G (p.Ala322Gly) c.849C>G (p.Arg283=) | |
17 | g.6425649G= | CA2245346894 | AIPL1 | c.966C= (p.Arg322=) c.777C= (p.Arg259=) c.*838C= (n.*838C=) c.900C= (p.Arg300=) c.251+8270C= c.930C= (p.Arg310=) c.*937C= (n.*937C=) c.786C= (p.Arg262=) c.894C= (p.Arg298=) c.965C= (p.Ala322=) c.849C= (p.Arg283=) | |
17 | g.6425649G>T | CA397394535 | AIPL1 | c.966C>A (p.Arg322=) c.777C>A (p.Arg259=) c.*838C>A (n.*838C>A) c.900C>A (p.Arg300=) c.251+8270C>A c.930C>A (p.Arg310=) c.*937C>A (n.*937C>A) c.786C>A (p.Arg262=) c.894C>A (p.Arg298=) c.965C>A (p.Ala322Asp) c.849C>A (p.Arg283=) | |
17 | g.6425650C>A | CA397394536 | AIPL1 | c.965G>T (p.Arg322Leu) c.776G>T (p.Arg259Leu) c.*837G>T (n.*837G>T) c.899G>T (p.Arg300Leu) c.251+8269G>T c.929G>T (p.Arg310Leu) c.*936G>T (n.*936G>T) c.785G>T (p.Arg262Leu) c.893G>T (p.Arg298Leu) c.964G>T (p.Ala322Ser) c.848G>T (p.Arg283Leu) | gnomAD v4 |
17 | g.6425650C= | CA2245346899 | AIPL1 | c.965G= (p.Arg322=) c.776G= (p.Arg259=) c.*837G= (n.*837G=) c.899G= (p.Arg300=) c.251+8269G= c.929G= (p.Arg310=) c.*936G= (n.*936G=) c.785G= (p.Arg262=) c.893G= (p.Arg298=) c.964G= (p.Ala322=) c.848G= (p.Arg283=) | |
17 | g.6425650C>G | CA8328344 | AIPL1 | c.965G>C (p.Arg322Pro) c.776G>C (p.Arg259Pro) c.*837G>C (n.*837G>C) c.899G>C (p.Arg300Pro) c.251+8269G>C c.929G>C (p.Arg310Pro) c.*936G>C (n.*936G>C) c.785G>C (p.Arg262Pro) c.893G>C (p.Arg298Pro) c.964G>C (p.Ala322Pro) c.848G>C (p.Arg283Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425650C>T | CA8328343 | AIPL1 | c.965G>A (p.Arg322His) c.776G>A (p.Arg259His) c.*837G>A (n.*837G>A) c.899G>A (p.Arg300His) c.251+8269G>A c.929G>A (p.Arg310His) c.*936G>A (n.*936G>A) c.785G>A (p.Arg262His) c.893G>A (p.Arg298His) c.964G>A (p.Ala322Thr) c.848G>A (p.Arg283His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6425651G>A | CA8328345 | AIPL1 | c.964C>T (p.Arg322Cys) c.775C>T (p.Arg259Cys) c.*836C>T (n.*836C>T) c.898C>T (p.Arg300Cys) c.251+8268C>T c.928C>T (p.Arg310Cys) c.*935C>T (n.*935C>T) c.784C>T (p.Arg262Cys) c.892C>T (p.Arg298Cys) c.963C>T (p.Cys321=) c.847C>T (p.Arg283Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425651G>C | CA397394538 | AIPL1 | c.964C>G (p.Arg322Gly) c.775C>G (p.Arg259Gly) c.*836C>G (n.*836C>G) c.898C>G (p.Arg300Gly) c.251+8268C>G c.928C>G (p.Arg310Gly) c.*935C>G (n.*935C>G) c.784C>G (p.Arg262Gly) c.892C>G (p.Arg298Gly) c.963C>G (p.Cys321Trp) c.847C>G (p.Arg283Gly) | |
17 | g.6425651G= | CA2245346903 | AIPL1 | c.964C= (p.Arg322=) c.775C= (p.Arg259=) c.*836C= (n.*836C=) c.898C= (p.Arg300=) c.251+8268C= c.928C= (p.Arg310=) c.*935C= (n.*935C=) c.784C= (p.Arg262=) c.892C= (p.Arg298=) c.963C= (p.Cys321=) c.847C= (p.Arg283=) | |
17 | g.6425651G>T | CA397394537 | AIPL1 | c.964C>A (p.Arg322Ser) c.775C>A (p.Arg259Ser) c.*836C>A (n.*836C>A) c.898C>A (p.Arg300Ser) c.251+8268C>A c.928C>A (p.Arg310Ser) c.*935C>A (n.*935C>A) c.784C>A (p.Arg262Ser) c.892C>A (p.Arg298Ser) c.963C>A (p.Cys321Ter) c.847C>A (p.Arg283Ser) |