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.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.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.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)
17g.6425578G>CCA397394384AIPL1c.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)
17g.6425578G>TCA397394385AIPL1c.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)
17g.6425579A=CA2245346734AIPL1c.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=)
17g.6425579A>CCA397394386AIPL1c.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)
17g.6425579A>GCA8328325AIPL1c.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
17g.6425579A>TCA397394387AIPL1c.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)
17g.6425580C>ACA397394388AIPL1c.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)
17g.6425580C>GCA397394389AIPL1c.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)
17g.6425580C>TCA497687359AIPL1c.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
17g.6425581T>ACA397394390AIPL1c.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)
17g.6425581T>CCA397394392AIPL1c.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)
17g.6425581T>GCA397394391AIPL1c.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)
17g.6425582G>ACA397394393AIPL1c.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
17g.6425582G>CCA397394394AIPL1c.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
17g.6425582G>TCA397394395AIPL1c.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)
17g.6425583T>ACA497687360AIPL1c.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=)
17g.6425583T>CCA497687361AIPL1c.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=)
17g.6425583T>GCA497687362AIPL1c.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=)
17g.6425584G>ACA397394396AIPL1c.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
17g.6425584G>CCA397394397AIPL1c.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
17g.6425584G=CA2245346738AIPL1c.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=)
17g.6425584G>TCA397394398AIPL1c.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
17g.6425585C>ACA8328326AIPL1c.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
17g.6425585C=CA2245346743AIPL1c.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=)
17g.6425585C>GCA397394399AIPL1c.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
17g.6425585C>TCA397394400AIPL1c.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
17g.6425585_6425586delinsCGCA2245346745AIPL1c.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=)
17g.6425586G>ACA497687363AIPL1c.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
17g.6425586G>CCA497687364AIPL1c.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
17g.6425586G=CA2245346748AIPL1c.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=)
17g.6425586G>TCA497687365AIPL1c.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
17g.6425588delCA624859140AIPL1c.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
17g.6425597_6425608dupCA2635688838AIPL1c.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
17g.6425597_6425608delCA2527199511AIPL1c.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
17g.6425587G>ACA8328327AIPL1c.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
17g.6425587G>CCA397394402AIPL1c.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

Number of alleles fetched