| 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.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.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.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.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=) | 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) |