Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6425504_6425599dupCA2635688832AIPL1c.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
17g.6425561_6425572delCA117602AIPL1c.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
17g.6425562_6425586delinsAGGTGGCTCTGTGGATGACTGTGCGCA2245346692AIPL1c.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=)
17g.6425576_6425599dupCA624859136AIPL1c.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
17g.6425576_6425599delCA8328322AIPL1c.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
17g.6425566G>ACA397394360AIPL1c.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)
17g.6425566G>CCA397394359AIPL1c.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)
17g.6425566G>TCA397394358AIPL1c.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
17g.6425567G>ACA397394361AIPL1c.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
17g.6425567G>CCA397394362AIPL1c.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
17g.6425567G=CA2245346711AIPL1c.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=)
17g.6425567G>TCA397394363AIPL1c.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)
17g.6425568C>ACA397394364AIPL1c.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)
17g.6425568C=CA2245346717AIPL1c.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=)
17g.6425568C>GCA397394365AIPL1c.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)
17g.6425568C>TCA8328324AIPL1c.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
17g.6425569T>ACA397394366AIPL1c.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)
17g.6425569T>CCA397394367AIPL1c.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
17g.6425569T>GCA397394368AIPL1c.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)
17g.6425569T=CA2245346720AIPL1c.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=)
17g.6425570C>ACA397394369AIPL1c.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)
17g.6425570C>GCA397394370AIPL1c.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)
17g.6425570C>TCA397394371AIPL1c.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)
17g.6425571T>ACA497687350AIPL1c.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=)
17g.6425571T>CCA497687351AIPL1c.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=)
17g.6425571T>GCA497687352AIPL1c.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
17g.6425572G>ACA397394374AIPL1c.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)
17g.6425572G>CCA397394373AIPL1c.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)
17g.6425572G>TCA397394372AIPL1c.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
17g.6425573T>ACA397394375AIPL1c.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)
17g.6425573T>CCA397394377AIPL1c.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)
17g.6425573T>GCA397394376AIPL1c.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)
17g.6425573T=CA2245346723AIPL1c.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=)
17g.6425574G>ACA497687353AIPL1c.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=)
17g.6425574G>CCA497687355AIPL1c.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=)
17g.6425574G>TCA497687354AIPL1c.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=)
17g.6425576_6425611dupCA624859139AIPL1c.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
17g.6425575G>ACA287323731AIPL1c.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
17g.6425575G>CCA397394379AIPL1c.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
17g.6425575G=CA2245346727AIPL1c.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=)
17g.6425575G>TCA397394378AIPL1c.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
17g.6425576A>CCA397394380AIPL1c.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)
17g.6425576A>GCA397394381AIPL1c.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)
17g.6425576A>TCA397394382AIPL1c.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)
17g.6425577T>ACA497687356AIPL1c.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
17g.6425577T>CCA497687357AIPL1c.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=)
17g.6425577T>GCA497687358AIPL1c.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=)
17g.6425577T=CA2245346730AIPL1c.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=)
17g.6425579_6425590delCA2576142267AIPL1c.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)
17g.6425578G>ACA397394383AIPL1c.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)

Number of alleles fetched