Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6425550_6425561dupCA8328319AIPL1c.1054_1065dup (p.Pro355_Thr356insAlaGluProPro)
c.865_876dup (p.Pro292_Thr293insAlaGluProPro)
c.*926_*937dup (p.=)
c.988_999dup (p.Pro333_Thr334insAlaGluProPro)
n.251+8358_251+8369dup
c.1018_1029dup (p.Pro343_Thr344insAlaGluProPro)
c.*1025_*1036dup (p.=)
c.874_885dup (p.Pro295_Thr296insAlaGluProPro)
c.982_993dup (p.Pro331_Thr332insAlaGluProPro)
c.*72_*83dup (p.=)
c.937_948dup (p.Pro316_Thr317insAlaGluProPro)
ClinVar dbSNP ExAC gnomAD
17g.6425550_6425562delinsGGGTGGCTCTGCACA2245346671AIPL1c.1053_1065delinsTGCAGAGCCACCC (p.Pro351=)
c.864_876delinsTGCAGAGCCACCC (p.Pro288=)
c.*925_*937delinsTGCAGAGCCACCC (p.=)
c.987_999delinsTGCAGAGCCACCC (p.Pro329=)
n.251+8357_251+8369delinsTGCAGAGCCACCC
c.1017_1029delinsTGCAGAGCCACCC (p.Pro339=)
c.*1024_*1036delinsTGCAGAGCCACCC (p.=)
c.873_885delinsTGCAGAGCCACCC (p.Pro291=)
c.981_993delinsTGCAGAGCCACCC (p.Pro327=)
c.*71_*83delinsTGCAGAGCCACCC (p.=)
c.936_948delinsTGCAGAGCCACCC (p.Pro312=)
17g.6425561_6425572delCA117602AIPL1c.1053_1064del (p.Ala352_Pro355del)
c.864_875del (p.Ala289_Pro292del)
c.*925_*936del (p.=)
c.987_998del (p.Ala330_Pro333del)
n.251+8357_251+8368del
c.1017_1028del (p.Ala340_Pro343del)
c.*1024_*1035del (p.=)
c.873_884del (p.Ala292_Pro295del)
c.981_992del (p.Ala328_Pro331del)
c.*71_*82del (p.=)
c.936_947del (p.Ala313_Pro316del)
ClinVar dbSNP ExAC gnomAD
17g.6425561C>ACA397394352AIPL1c.1054G>T (p.Ala352Ser)
c.865G>T (p.Ala289Ser)
c.*926G>T (p.=)
c.988G>T (p.Ala330Ser)
n.251+8358G>T
c.1018G>T (p.Ala340Ser)
c.*1025G>T (p.=)
c.874G>T (p.Ala292Ser)
c.982G>T (p.Ala328Ser)
c.*72G>T (p.=)
c.937G>T (p.Ala313Ser)
17g.6425561C=CA2245346689AIPL1c.1054G= (p.Ala352=)
c.865G= (p.Ala289=)
c.*926G= (p.=)
c.988G= (p.Ala330=)
n.251+8358G=
c.1018G= (p.Ala340=)
c.*1025G= (p.=)
c.874G= (p.Ala292=)
c.982G= (p.Ala328=)
c.*72G= (p.=)
c.937G= (p.Ala313=)
17g.6425561C>GCA397394353AIPL1c.1054G>C (p.Ala352Pro)
c.865G>C (p.Ala289Pro)
c.*926G>C (p.=)
c.988G>C (p.Ala330Pro)
n.251+8358G>C
c.1018G>C (p.Ala340Pro)
c.*1025G>C (p.=)
c.874G>C (p.Ala292Pro)
c.982G>C (p.Ala328Pro)
c.*72G>C (p.=)
c.937G>C (p.Ala313Pro)
17g.6425561C>TCA8328321AIPL1c.1054G>A (p.Ala352Thr)
c.865G>A (p.Ala289Thr)
c.*926G>A (p.=)
c.988G>A (p.Ala330Thr)
n.251+8358G>A
c.1018G>A (p.Ala340Thr)
c.*1025G>A (p.=)
c.874G>A (p.Ala292Thr)
c.982G>A (p.Ala328Thr)
c.*72G>A (p.=)
c.937G>A (p.Ala313Thr)
ClinVar dbSNP ExAC gnomAD
17g.6425562A=CA2245346693AIPL1c.1053T= (p.Pro351=)
c.864T= (p.Pro288=)
c.*925T= (p.=)
c.987T= (p.Pro329=)
n.251+8357T=
c.1017T= (p.Pro339=)
c.*1024T= (p.=)
c.873T= (p.Pro291=)
c.981T= (p.Pro327=)
c.*71T= (p.=)
c.936T= (p.Pro312=)
17g.6425562A>CCA497687344AIPL1c.1053T>G (p.Pro351=)
c.864T>G (p.Pro288=)
c.*925T>G (p.=)
c.987T>G (p.Pro329=)
n.251+8357T>G
c.1017T>G (p.Pro339=)
c.*1024T>G (p.=)
c.873T>G (p.Pro291=)
c.981T>G (p.Pro327=)
c.*71T>G (p.=)
c.936T>G (p.Pro312=)
17g.6425562A>GCA497687346AIPL1c.1053T>C (p.Pro351=)
c.864T>C (p.Pro288=)
c.*925T>C (p.=)
c.987T>C (p.Pro329=)
n.251+8357T>C
c.1017T>C (p.Pro339=)
c.*1024T>C (p.=)
c.873T>C (p.Pro291=)
c.981T>C (p.Pro327=)
c.*71T>C (p.=)
c.936T>C (p.Pro312=)
17g.6425562A>TCA497687345AIPL1c.1053T>A (p.Pro351=)
c.864T>A (p.Pro288=)
c.*925T>A (p.=)
c.987T>A (p.Pro329=)
n.251+8357T>A
c.1017T>A (p.Pro339=)
c.*1024T>A (p.=)
c.873T>A (p.Pro291=)
c.981T>A (p.Pro327=)
c.*71T>A (p.=)
c.936T>A (p.Pro312=)
17g.6425562_6425586delinsAGGTGGCTCTGTGGATGACTGTGCGCA2245346692AIPL1c.1029_1053delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro343=)
c.840_864delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro280=)
c.*901_*925delinsCGCACAGTCATCCACAGAGCCACCT (p.=)
c.963_987delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro321=)
n.251+8333_251+8357delinsCGCACAGTCATCCACAGAGCCACCT
c.993_1017delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro331=)
c.*1000_*1024delinsCGCACAGTCATCCACAGAGCCACCT (p.=)
c.849_873delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro283=)
c.957_981delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro319=)
c.*47_*71delinsCGCACAGTCATCCACAGAGCCACCT (p.=)
c.912_936delinsCGCACAGTCATCCACAGAGCCACCT (p.Pro304=)
17g.6425563G>ACA287323721AIPL1c.1052C>T (p.Pro351Leu)
c.863C>T (p.Pro288Leu)
c.*924C>T (p.=)
c.986C>T (p.Pro329Leu)
n.251+8356C>T
c.1016C>T (p.Pro339Leu)
c.*1023C>T (p.=)
c.872C>T (p.Pro291Leu)
c.980C>T (p.Pro327Leu)
c.*70C>T (p.=)
c.935C>T (p.Pro312Leu)
ClinVar dbSNP gnomAD
17g.6425563G>CCA397394354AIPL1c.1052C>G (p.Pro351Arg)
c.863C>G (p.Pro288Arg)
c.*924C>G (p.=)
c.986C>G (p.Pro329Arg)
n.251+8356C>G
c.1016C>G (p.Pro339Arg)
c.*1023C>G (p.=)
c.872C>G (p.Pro291Arg)
c.980C>G (p.Pro327Arg)
c.*70C>G (p.=)
c.935C>G (p.Pro312Arg)
17g.6425563G=CA2245346701AIPL1c.1052C= (p.Pro351=)
c.863C= (p.Pro288=)
c.*924C= (p.=)
c.986C= (p.Pro329=)
n.251+8356C=
c.1016C= (p.Pro339=)
c.*1023C= (p.=)
c.872C= (p.Pro291=)
c.980C= (p.Pro327=)
c.*70C= (p.=)
c.935C= (p.Pro312=)
17g.6425563G>TCA397394355AIPL1c.1052C>A (p.Pro351His)
c.863C>A (p.Pro288His)
c.*924C>A (p.=)
c.986C>A (p.Pro329His)
n.251+8356C>A
c.1016C>A (p.Pro339His)
c.*1023C>A (p.=)
c.872C>A (p.Pro291His)
c.980C>A (p.Pro327His)
c.*70C>A (p.=)
c.935C>A (p.Pro312His)
17g.6425576_6425599dupCA624859136AIPL1c.1029_1052dup (p.Pro351_Ala352insAlaGlnSerSerThrGluProPro)
c.840_863dup (p.Pro288_Ala289insAlaGlnSerSerThrGluProPro)
c.*901_*924dup (p.=)
c.963_986dup (p.Pro329_Ala330insAlaGlnSerSerThrGluProPro)
n.251+8333_251+8356dup
c.993_1016dup (p.Pro339_Ala340insAlaGlnSerSerThrGluProPro)
c.*1000_*1023dup (p.=)
c.849_872dup (p.Pro291_Ala292insAlaGlnSerSerThrGluProPro)
c.957_980dup (p.Pro327_Ala328insAlaGlnSerSerThrGluProPro)
c.*47_*70dup (p.=)
c.912_935dup (p.Pro312_Ala313insAlaGlnSerSerThrGluProPro)
dbSNP gnomAD
17g.6425576_6425599delCA8328322AIPL1c.1029_1052del (p.Ala344_Pro351del)
c.840_863del (p.Ala281_Pro288del)
c.*901_*924del (p.=)
c.963_986del (p.Ala322_Pro329del)
n.251+8333_251+8356del
c.993_1016del (p.Ala332_Pro339del)
c.*1000_*1023del (p.=)
c.849_872del (p.Ala284_Pro291del)
c.957_980del (p.Ala320_Pro327del)
c.*47_*70del (p.=)
c.912_935del (p.Ala305_Pro312del)
dbSNP ExAC
17g.6425564G>ACA8328323AIPL1c.1051C>T (p.Pro351Ser)
c.862C>T (p.Pro288Ser)
c.*923C>T (p.=)
c.985C>T (p.Pro329Ser)
n.251+8355C>T
c.1015C>T (p.Pro339Ser)
c.*1022C>T (p.=)
c.871C>T (p.Pro291Ser)
c.979C>T (p.Pro327Ser)
c.*69C>T (p.=)
c.934C>T (p.Pro312Ser)
dbSNP ExAC gnomAD
17g.6425564G>CCA397394356AIPL1c.1051C>G (p.Pro351Ala)
c.862C>G (p.Pro288Ala)
c.*923C>G (p.=)
c.985C>G (p.Pro329Ala)
n.251+8355C>G
c.1015C>G (p.Pro339Ala)
c.*1022C>G (p.=)
c.871C>G (p.Pro291Ala)
c.979C>G (p.Pro327Ala)
c.*69C>G (p.=)
c.934C>G (p.Pro312Ala)
17g.6425564G=CA2245346706AIPL1c.1051C= (p.Pro351=)
c.862C= (p.Pro288=)
c.*923C= (p.=)
c.985C= (p.Pro329=)
n.251+8355C=
c.1015C= (p.Pro339=)
c.*1022C= (p.=)
c.871C= (p.Pro291=)
c.979C= (p.Pro327=)
c.*69C= (p.=)
c.934C= (p.Pro312=)
17g.6425564G>TCA397394357AIPL1c.1051C>A (p.Pro351Thr)
c.862C>A (p.Pro288Thr)
c.*923C>A (p.=)
c.985C>A (p.Pro329Thr)
n.251+8355C>A
c.1015C>A (p.Pro339Thr)
c.*1022C>A (p.=)
c.871C>A (p.Pro291Thr)
c.979C>A (p.Pro327Thr)
c.*69C>A (p.=)
c.934C>A (p.Pro312Thr)
17g.6425565T>ACA497687347AIPL1c.1050A>T (p.Pro350=)
c.861A>T (p.Pro287=)
c.*922A>T (p.=)
c.984A>T (p.Pro328=)
n.251+8354A>T
c.1014A>T (p.Pro338=)
c.*1021A>T (p.=)
c.870A>T (p.Pro290=)
c.978A>T (p.Pro326=)
c.*68A>T (p.=)
c.933A>T (p.Pro311=)
gnomAD
17g.6425565T>CCA497687348AIPL1c.1050A>G (p.Pro350=)
c.861A>G (p.Pro287=)
c.*922A>G (p.=)
c.984A>G (p.Pro328=)
n.251+8354A>G
c.1014A>G (p.Pro338=)
c.*1021A>G (p.=)
c.870A>G (p.Pro290=)
c.978A>G (p.Pro326=)
c.*68A>G (p.=)
c.933A>G (p.Pro311=)
17g.6425565T>GCA497687349AIPL1c.1050A>C (p.Pro350=)
c.861A>C (p.Pro287=)
c.*922A>C (p.=)
c.984A>C (p.Pro328=)
n.251+8354A>C
c.1014A>C (p.Pro338=)
c.*1021A>C (p.=)
c.870A>C (p.Pro290=)
c.978A>C (p.Pro326=)
c.*68A>C (p.=)
c.933A>C (p.Pro311=)
17g.6425565T=CA2245346709AIPL1c.1050A= (p.Pro350=)
c.861A= (p.Pro287=)
c.*922A= (p.=)
c.984A= (p.Pro328=)
n.251+8354A=
c.1014A= (p.Pro338=)
c.*1021A= (p.=)
c.870A= (p.Pro290=)
c.978A= (p.Pro326=)
c.*68A= (p.=)
c.933A= (p.Pro311=)
17g.6425566G>ACA397394360AIPL1c.1049C>T (p.Pro350Leu)
c.860C>T (p.Pro287Leu)
c.*921C>T (p.=)
c.983C>T (p.Pro328Leu)
n.251+8353C>T
c.1013C>T (p.Pro338Leu)
c.*1020C>T (p.=)
c.869C>T (p.Pro290Leu)
c.977C>T (p.Pro326Leu)
c.*67C>T (p.=)
c.932C>T (p.Pro311Leu)
17g.6425566G>CCA397394359AIPL1c.1049C>G (p.Pro350Arg)
c.860C>G (p.Pro287Arg)
c.*921C>G (p.=)
c.983C>G (p.Pro328Arg)
n.251+8353C>G
c.1013C>G (p.Pro338Arg)
c.*1020C>G (p.=)
c.869C>G (p.Pro290Arg)
c.977C>G (p.Pro326Arg)
c.*67C>G (p.=)
c.932C>G (p.Pro311Arg)
17g.6425566G>TCA397394358AIPL1c.1049C>A (p.Pro350Gln)
c.860C>A (p.Pro287Gln)
c.*921C>A (p.=)
c.983C>A (p.Pro328Gln)
n.251+8353C>A
c.1013C>A (p.Pro338Gln)
c.*1020C>A (p.=)
c.869C>A (p.Pro290Gln)
c.977C>A (p.Pro326Gln)
c.*67C>A (p.=)
c.932C>A (p.Pro311Gln)
17g.6425567G>ACA397394361AIPL1c.1048C>T (p.Pro350Ser)
c.859C>T (p.Pro287Ser)
c.*920C>T (p.=)
c.982C>T (p.Pro328Ser)
n.251+8352C>T
c.1012C>T (p.Pro338Ser)
c.*1019C>T (p.=)
c.868C>T (p.Pro290Ser)
c.976C>T (p.Pro326Ser)
c.*66C>T (p.=)
c.931C>T (p.Pro311Ser)
17g.6425567G>CCA397394362AIPL1c.1048C>G (p.Pro350Ala)
c.859C>G (p.Pro287Ala)
c.*920C>G (p.=)
c.982C>G (p.Pro328Ala)
n.251+8352C>G
c.1012C>G (p.Pro338Ala)
c.*1019C>G (p.=)
c.868C>G (p.Pro290Ala)
c.976C>G (p.Pro326Ala)
c.*66C>G (p.=)
c.931C>G (p.Pro311Ala)
17g.6425567G=CA2245346711AIPL1c.1048C= (p.Pro350=)
c.859C= (p.Pro287=)
c.*920C= (p.=)
c.982C= (p.Pro328=)
n.251+8352C=
c.1012C= (p.Pro338=)
c.*1019C= (p.=)
c.868C= (p.Pro290=)
c.976C= (p.Pro326=)
c.*66C= (p.=)
c.931C= (p.Pro311=)
17g.6425567G>TCA397394363AIPL1c.1048C>A (p.Pro350Thr)
c.859C>A (p.Pro287Thr)
c.*920C>A (p.=)
c.982C>A (p.Pro328Thr)
n.251+8352C>A
c.1012C>A (p.Pro338Thr)
c.*1019C>A (p.=)
c.868C>A (p.Pro290Thr)
c.976C>A (p.Pro326Thr)
c.*66C>A (p.=)
c.931C>A (p.Pro311Thr)
17g.6425568C>ACA397394364AIPL1c.1047G>T (p.Glu349Asp)
c.858G>T (p.Glu286Asp)
c.*919G>T (p.=)
c.981G>T (p.Glu327Asp)
n.251+8351G>T
c.1011G>T (p.Glu337Asp)
c.*1018G>T (p.=)
c.867G>T (p.Glu289Asp)
c.975G>T (p.Glu325Asp)
c.*65G>T (p.=)
c.930G>T (p.Glu310Asp)
17g.6425568C=CA2245346717AIPL1c.1047G= (p.Glu349=)
c.858G= (p.Glu286=)
c.*919G= (p.=)
c.981G= (p.Glu327=)
n.251+8351G=
c.1011G= (p.Glu337=)
c.*1018G= (p.=)
c.867G= (p.Glu289=)
c.975G= (p.Glu325=)
c.*65G= (p.=)
c.930G= (p.Glu310=)
17g.6425568C>GCA397394365AIPL1c.1047G>C (p.Glu349Asp)
c.858G>C (p.Glu286Asp)
c.*919G>C (p.=)
c.981G>C (p.Glu327Asp)
n.251+8351G>C
c.1011G>C (p.Glu337Asp)
c.*1018G>C (p.=)
c.867G>C (p.Glu289Asp)
c.975G>C (p.Glu325Asp)
c.*65G>C (p.=)
c.930G>C (p.Glu310Asp)
17g.6425568C>TCA8328324AIPL1c.1047G>A (p.Glu349=)
c.858G>A (p.Glu286=)
c.*919G>A (p.=)
c.981G>A (p.Glu327=)
n.251+8351G>A
c.1011G>A (p.Glu337=)
c.*1018G>A (p.=)
c.867G>A (p.Glu289=)
c.975G>A (p.Glu325=)
c.*65G>A (p.=)
c.930G>A (p.Glu310=)
ClinVar dbSNP ExAC gnomAD
17g.6425569T>ACA397394366AIPL1c.1046A>T (p.Glu349Val)
c.857A>T (p.Glu286Val)
c.*918A>T (p.=)
c.980A>T (p.Glu327Val)
n.251+8350A>T
c.1010A>T (p.Glu337Val)
c.*1017A>T (p.=)
c.866A>T (p.Glu289Val)
c.974A>T (p.Glu325Val)
c.*64A>T (p.=)
c.929A>T (p.Glu310Val)
17g.6425569T>CCA397394367AIPL1c.1046A>G (p.Glu349Gly)
c.857A>G (p.Glu286Gly)
c.*918A>G (p.=)
c.980A>G (p.Glu327Gly)
n.251+8350A>G
c.1010A>G (p.Glu337Gly)
c.*1017A>G (p.=)
c.866A>G (p.Glu289Gly)
c.974A>G (p.Glu325Gly)
c.*64A>G (p.=)
c.929A>G (p.Glu310Gly)
gnomAD
17g.6425569T>GCA397394368AIPL1c.1046A>C (p.Glu349Ala)
c.857A>C (p.Glu286Ala)
c.*918A>C (p.=)
c.980A>C (p.Glu327Ala)
n.251+8350A>C
c.1010A>C (p.Glu337Ala)
c.*1017A>C (p.=)
c.866A>C (p.Glu289Ala)
c.974A>C (p.Glu325Ala)
c.*64A>C (p.=)
c.929A>C (p.Glu310Ala)
17g.6425569T=CA2245346720AIPL1c.1046A= (p.Glu349=)
c.857A= (p.Glu286=)
c.*918A= (p.=)
c.980A= (p.Glu327=)
n.251+8350A=
c.1010A= (p.Glu337=)
c.*1017A= (p.=)
c.866A= (p.Glu289=)
c.974A= (p.Glu325=)
c.*64A= (p.=)
c.929A= (p.Glu310=)
17g.6425570C>ACA397394369AIPL1c.1045G>T (p.Glu349Ter)
c.856G>T (p.Glu286Ter)
c.*917G>T (p.=)
c.979G>T (p.Glu327Ter)
n.251+8349G>T
c.1009G>T (p.Glu337Ter)
c.*1016G>T (p.=)
c.865G>T (p.Glu289Ter)
c.973G>T (p.Glu325Ter)
c.*63G>T (p.=)
c.928G>T (p.Glu310Ter)
17g.6425570C>GCA397394370AIPL1c.1045G>C (p.Glu349Gln)
c.856G>C (p.Glu286Gln)
c.*917G>C (p.=)
c.979G>C (p.Glu327Gln)
n.251+8349G>C
c.1009G>C (p.Glu337Gln)
c.*1016G>C (p.=)
c.865G>C (p.Glu289Gln)
c.973G>C (p.Glu325Gln)
c.*63G>C (p.=)
c.928G>C (p.Glu310Gln)
17g.6425570C>TCA397394371AIPL1c.1045G>A (p.Glu349Lys)
c.856G>A (p.Glu286Lys)
c.*917G>A (p.=)
c.979G>A (p.Glu327Lys)
n.251+8349G>A
c.1009G>A (p.Glu337Lys)
c.*1016G>A (p.=)
c.865G>A (p.Glu289Lys)
c.973G>A (p.Glu325Lys)
c.*63G>A (p.=)
c.928G>A (p.Glu310Lys)
17g.6425571T>ACA497687350AIPL1c.1044A>T (p.Thr348=)
c.855A>T (p.Thr285=)
c.*916A>T (p.=)
c.978A>T (p.Thr326=)
n.251+8348A>T
c.1008A>T (p.Thr336=)
c.*1015A>T (p.=)
c.864A>T (p.Thr288=)
c.972A>T (p.Thr324=)
c.*62A>T (p.=)
c.927A>T (p.Thr309=)
17g.6425571T>CCA497687351AIPL1c.1044A>G (p.Thr348=)
c.855A>G (p.Thr285=)
c.*916A>G (p.=)
c.978A>G (p.Thr326=)
n.251+8348A>G
c.1008A>G (p.Thr336=)
c.*1015A>G (p.=)
c.864A>G (p.Thr288=)
c.972A>G (p.Thr324=)
c.*62A>G (p.=)
c.927A>G (p.Thr309=)
17g.6425571T>GCA497687352AIPL1c.1044A>C (p.Thr348=)
c.855A>C (p.Thr285=)
c.*916A>C (p.=)
c.978A>C (p.Thr326=)
n.251+8348A>C
c.1008A>C (p.Thr336=)
c.*1015A>C (p.=)
c.864A>C (p.Thr288=)
c.972A>C (p.Thr324=)
c.*62A>C (p.=)
c.927A>C (p.Thr309=)
17g.6425572G>ACA397394374AIPL1c.1043C>T (p.Thr348Ile)
c.854C>T (p.Thr285Ile)
c.*915C>T (p.=)
c.977C>T (p.Thr326Ile)
n.251+8347C>T
c.1007C>T (p.Thr336Ile)
c.*1014C>T (p.=)
c.863C>T (p.Thr288Ile)
c.971C>T (p.Thr324Ile)
c.*61C>T (p.=)
c.926C>T (p.Thr309Ile)
17g.6425572G>CCA397394373AIPL1c.1043C>G (p.Thr348Arg)
c.854C>G (p.Thr285Arg)
c.*915C>G (p.=)
c.977C>G (p.Thr326Arg)
n.251+8347C>G
c.1007C>G (p.Thr336Arg)
c.*1014C>G (p.=)
c.863C>G (p.Thr288Arg)
c.971C>G (p.Thr324Arg)
c.*61C>G (p.=)
c.926C>G (p.Thr309Arg)
17g.6425572G>TCA397394372AIPL1c.1043C>A (p.Thr348Lys)
c.854C>A (p.Thr285Lys)
c.*915C>A (p.=)
c.977C>A (p.Thr326Lys)
n.251+8347C>A
c.1007C>A (p.Thr336Lys)
c.*1014C>A (p.=)
c.863C>A (p.Thr288Lys)
c.971C>A (p.Thr324Lys)
c.*61C>A (p.=)
c.926C>A (p.Thr309Lys)

Number of alleles fetched