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.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
17g.6425587G=CA2245346752AIPL1c.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=)
17g.6425587G>TCA397394401AIPL1c.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)
17g.6425588G>ACA397394403AIPL1c.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)
17g.6425588G>CCA397394404AIPL1c.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)
17g.6425588G>TCA397394405AIPL1c.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)
17g.6425589T>ACA497687366AIPL1c.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=)
17g.6425589T>CCA497687367AIPL1c.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=)
17g.6425589T>GCA497687368AIPL1c.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
17g.6425589T=CA2245346757AIPL1c.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=)
17g.6425590G>ACA397394406AIPL1c.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
17g.6425590G>CCA397394407AIPL1c.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)
17g.6425590G=CA2245346759AIPL1c.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=)
17g.6425590G>TCA397394408AIPL1c.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
17g.6425591G>ACA8328328AIPL1c.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
17g.6425591G>CCA397394409AIPL1c.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)
17g.6425591G=CA2245346762AIPL1c.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=)
17g.6425591G>TCA397394410AIPL1c.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)
17g.6425592C>ACA397394411AIPL1c.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)
17g.6425592C>GCA397394412AIPL1c.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)
17g.6425592C>TCA497687369AIPL1c.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
17g.6425593T>ACA397394415AIPL1c.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)
17g.6425593T>CCA397394414AIPL1c.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
17g.6425593T>GCA397394413AIPL1c.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)
17g.6425594C>ACA397394416AIPL1c.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
17g.6425594C>GCA397394417AIPL1c.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)
17g.6425594C>TCA397394418AIPL1c.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)
17g.6425595T>ACA497687372AIPL1c.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=)
17g.6425595T>CCA497687370AIPL1c.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=)
17g.6425595T>GCA497687371AIPL1c.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=)
17g.6425596G>ACA397394419AIPL1c.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)
17g.6425596G>CCA397394420AIPL1c.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)
17g.6425596G=CA2245346764AIPL1c.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=)
17g.6425596G>TCA8328329AIPL1c.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
17g.6425597T>ACA397394421AIPL1c.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)
17g.6425597T>CCA397394422AIPL1c.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
17g.6425597T>GCA397394423AIPL1c.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)
17g.6425597T=CA2245346769AIPL1c.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=)
17g.6425597_6425609delinsTGGGTGGCTCTGCCA2245346768AIPL1c.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=)
17g.6425598G>ACA497687373AIPL1c.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
17g.6425598G>CCA497687374AIPL1c.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=)
17g.6425598G>TCA497687375AIPL1c.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
17g.6425601_6425612dupCA624859141AIPL1c.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
17g.6425601_6425612delCA8328330AIPL1c.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
17g.6425599G>ACA397394424AIPL1c.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
17g.6425599G>CCA397394425AIPL1c.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)
17g.6425599G=CA2245346773AIPL1c.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=)
17g.6425599G>TCA397394426AIPL1c.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
17g.6425600G>ACA397394428AIPL1c.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
17g.6425600G>CCA397394429AIPL1c.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)
17g.6425600G=CA2245346777AIPL1c.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=)
17g.6425600G>TCA397394427AIPL1c.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)
17g.6425601T>ACA497687376AIPL1c.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=)
17g.6425601T>CCA497687377AIPL1c.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
17g.6425601T>GCA497687378AIPL1c.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=)
17g.6425602G>ACA397394432AIPL1c.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)
17g.6425602G>CCA397394430AIPL1c.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)
17g.6425602G>TCA397394431AIPL1c.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
17g.6425603G>ACA397394433AIPL1c.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
17g.6425603G>CCA397394434AIPL1c.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
17g.6425603G=CA2245346781AIPL1c.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=)
17g.6425603G>TCA8328331AIPL1c.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
17g.6425603_6425605delinsGCTCA2245346779AIPL1c.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=)
17g.6425604C>ACA397394435AIPL1c.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)
17g.6425604C>GCA397394436AIPL1c.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)
17g.6425604C>TCA497687379AIPL1c.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=)
17g.6425606_6425607delCA227863AIPL1c.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
17g.6425605T>ACA397394437AIPL1c.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
17g.6425605T>CCA397394438AIPL1c.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)
17g.6425605T>GCA397394439AIPL1c.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)
17g.6425605T=CA2245346789AIPL1c.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=)
17g.6425606C>ACA397394441AIPL1c.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)
17g.6425606C=CA2245346793AIPL1c.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=)
17g.6425606C>GCA8328332AIPL1c.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
17g.6425606C>TCA397394440AIPL1c.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)
17g.6425607T>ACA497687380AIPL1c.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=)
17g.6425607T>CCA497687381AIPL1c.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=)
17g.6425607T>GCA497687382AIPL1c.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=)
17g.6425608G>ACA397394442AIPL1c.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)
17g.6425608G>CCA397394443AIPL1c.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)
17g.6425608G>TCA397394444AIPL1c.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)
17g.6425609C>ACA397394445AIPL1c.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)
17g.6425609C=CA2245346796AIPL1c.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=)
17g.6425609C>GCA397394446AIPL1c.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)
17g.6425609C>TCA233457AIPL1c.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
17g.6425609_6425610delinsCGCA2245346801AIPL1c.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=)
17g.6425610G>ACA8328333AIPL1c.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
17g.6425610G>CCA497687383AIPL1c.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=)
17g.6425610G=CA2245346805AIPL1c.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=)
17g.6425610G>TCA497687384AIPL1c.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
17g.6425612delCA774024786AIPL1c.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
17g.6425611G>ACA397394447AIPL1c.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
17g.6425611G>CCA397394448AIPL1c.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)
17g.6425611G=CA2245346811AIPL1c.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=)
17g.6425611G>TCA279223AIPL1c.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
17g.6425612G>ACA397394449AIPL1c.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
17g.6425612G>CCA397394450AIPL1c.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)
17g.6425612G=CA2245346815AIPL1c.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=)
17g.6425612G>TCA397394451AIPL1c.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
17g.6425613A>CCA497687386AIPL1c.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
17g.6425613A>GCA497687388AIPL1c.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=)
17g.6425613A>TCA497687391AIPL1c.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=)
17g.6425614G>ACA397394453AIPL1c.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
17g.6425614G>CCA397394454AIPL1c.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)
17g.6425614G=CA2245346818AIPL1c.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=)
17g.6425614G>TCA397394452AIPL1c.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)
17g.6425614_6425623delCA2808334464AIPL1c.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?)
17g.6425615G>ACA397394455AIPL1c.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
17g.6425615G>CCA397394456AIPL1c.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)
17g.6425615G=CA2245346822AIPL1c.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=)
17g.6425615G>TCA397394457AIPL1c.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)
17g.6425616C>ACA397394458AIPL1c.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)
17g.6425616C>GCA397394459AIPL1c.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)
17g.6425616C>TCA497687394AIPL1c.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
17g.6425617T>ACA397394460AIPL1c.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)
17g.6425617T>CCA397394461AIPL1c.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
17g.6425617T>GCA397394462AIPL1c.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)
17g.6425618G>ACA397394463AIPL1c.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
17g.6425618G>CCA397394464AIPL1c.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)
17g.6425618G=CA2245346824AIPL1c.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=)
17g.6425618G>TCA397394465AIPL1c.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)
17g.6425618_6425619insACTAACACTCA2635688839AIPL1c.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
17g.6425619C>ACA8328334AIPL1c.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
17g.6425619C=CA2245346827AIPL1c.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=)
17g.6425619C>GCA497687398AIPL1c.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=)
17g.6425619C>TCA497687399AIPL1c.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
17g.6425620G>ACA287323767AIPL1c.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
17g.6425620G>CCA8328335AIPL1c.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
17g.6425620G=CA2245346832AIPL1c.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=)
17g.6425620G>TCA397394466AIPL1c.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
17g.6425621T>ACA397394467AIPL1c.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
17g.6425621T>CCA397394468AIPL1c.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)
17g.6425621T>GCA397394469AIPL1c.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)
17g.6425622G>ACA497687402AIPL1c.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=)
17g.6425622G>CCA497687403AIPL1c.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=)
17g.6425622G>TCA497687404AIPL1c.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=)
17g.6425622_6425652dupCA2573054547AIPL1c.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
17g.6425623G>ACA397394470AIPL1c.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)
17g.6425623G>CCA397394471AIPL1c.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
17g.6425623G>TCA397394472AIPL1c.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
17g.6425624C>ACA397394475AIPL1c.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)
17g.6425624C>GCA397394473AIPL1c.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)
17g.6425624C>TCA397394474AIPL1c.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
17g.6425625A=CA2245346840AIPL1c.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=)
17g.6425625A>CCA497687409AIPL1c.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=)
17g.6425625A>GCA497687408AIPL1c.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
17g.6425625A>TCA497687406AIPL1c.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=)
17g.6425626C>ACA397394476AIPL1c.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)
17g.6425626C=CA2245346842AIPL1c.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=)
17g.6425626C>GCA397394477AIPL1c.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)
17g.6425626C>TCA8328336AIPL1c.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
17g.6425627C>ACA397394478AIPL1c.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)
17g.6425627C=CA2245346845AIPL1c.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=)
17g.6425627C>GCA397394479AIPL1c.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)
17g.6425627C>TCA8328337AIPL1c.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
17g.6425628C>ACA397394481AIPL1c.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)
17g.6425628C>GCA397394480AIPL1c.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)
17g.6425628C>TCA497687414AIPL1c.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=)
17g.6425629T>ACA397394482AIPL1c.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)
17g.6425629T>CCA397394484AIPL1c.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
17g.6425629T>GCA397394483AIPL1c.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)
17g.6425629T=CA2245346848AIPL1c.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=)
17g.6425630G>ACA397394485AIPL1c.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
17g.6425630G>CCA397394486AIPL1c.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)
17g.6425630G=CA2245346853AIPL1c.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=)
17g.6425630G>TCA397394487AIPL1c.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
17g.6425631G>ACA497687417AIPL1c.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=)
17g.6425631G>CCA397394488AIPL1c.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)
17g.6425631G>TCA397394489AIPL1c.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
17g.6425632C>ACA397394490AIPL1c.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
17g.6425632C=CA2245346858AIPL1c.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=)
17g.6425632C>GCA397394491AIPL1c.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
17g.6425632C>TCA397394492AIPL1c.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
17g.6425633T>ACA397394493AIPL1c.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)
17g.6425633T>CCA397394495AIPL1c.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)
17g.6425633T>GCA397394494AIPL1c.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)
17g.6425634C>ACA397394496AIPL1c.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=)
17g.6425634C=CA2245346860AIPL1c.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=)
17g.6425634C>GCA397394497AIPL1c.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=)
17g.6425634C>TCA497687418AIPL1c.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
17g.6425635A>CCA397394498AIPL1c.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)
17g.6425635A>GCA397394499AIPL1c.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)
17g.6425635A>TCA397394500AIPL1c.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)
17g.6425636G>ACA287323771AIPL1c.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
17g.6425636G>CCA397394502AIPL1c.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)
17g.6425636G=CA2245346863AIPL1c.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=)
17g.6425636G>TCA397394501AIPL1c.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
17g.6425637C>ACA397394503AIPL1c.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)
17g.6425637C>GCA397394504AIPL1c.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)
17g.6425637C>TCA397394505AIPL1c.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)
17g.6425638A>CCA397394506AIPL1c.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)
17g.6425638A>GCA397394507AIPL1c.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
17g.6425638A>TCA397394508AIPL1c.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)
17g.6425639T>ACA397394509AIPL1c.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)
17g.6425639T>CCA397394510AIPL1c.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
17g.6425639T>GCA397394511AIPL1c.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)
17g.6425639T=CA2245346866AIPL1c.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=)
17g.6425640G>ACA397394512AIPL1c.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
17g.6425640G>CCA397394513AIPL1c.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)
17g.6425640G>TCA397394514AIPL1c.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
17g.6425641T>ACA397394515AIPL1c.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)
17g.6425641T>CCA397394517AIPL1c.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
17g.6425641T>GCA397394516AIPL1c.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)
17g.6425642T>ACA397394518AIPL1c.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)
17g.6425642T>CCA397394519AIPL1c.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)
17g.6425642T>GCA397394520AIPL1c.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)
17g.6425642_6425643delinsTCCA2245346869AIPL1c.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=)
17g.6425643C>ACA397394521AIPL1c.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
17g.6425643C=CA2245346871AIPL1c.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=)
17g.6425643C>GCA397394522AIPL1c.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
17g.6425643C>TCA397394523AIPL1c.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
17g.6425644delCA981100671AIPL1c.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
17g.6425644C>ACA246741AIPL1c.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
17g.6425644C=CA2245346880AIPL1c.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=)
17g.6425644C>GCA397394524AIPL1c.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
17g.6425644C>TCA8328338AIPL1c.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
17g.6425645G>ACA8328340AIPL1c.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
17g.6425645G>CCA397394525AIPL1c.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)
17g.6425645G=CA2245346888AIPL1c.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=)
17g.6425645G>TCA8328339AIPL1c.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
17g.6425646G>ACA8328341AIPL1c.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
17g.6425646G>CCA397394527AIPL1c.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)
17g.6425646G=CA2245346891AIPL1c.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=)
17g.6425646G>TCA397394526AIPL1c.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)
17g.6425647C>ACA397394528AIPL1c.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)
17g.6425647C>GCA397394529AIPL1c.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)
17g.6425647C>TCA397394530AIPL1c.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)
17g.6425648A>CCA397394531AIPL1c.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)
17g.6425648A>GCA397394532AIPL1c.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)
17g.6425648A>TCA397394533AIPL1c.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)
17g.6425649G>ACA8328342AIPL1c.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
17g.6425649G>CCA397394534AIPL1c.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=)
17g.6425649G=CA2245346894AIPL1c.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=)
17g.6425649G>TCA397394535AIPL1c.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=)
17g.6425650C>ACA397394536AIPL1c.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
17g.6425650C=CA2245346899AIPL1c.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=)
17g.6425650C>GCA8328344AIPL1c.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
17g.6425650C>TCA8328343AIPL1c.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
17g.6425651G>ACA8328345AIPL1c.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
17g.6425651G>CCA397394538AIPL1c.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)
17g.6425651G=CA2245346903AIPL1c.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=)
17g.6425651G>TCA397394537AIPL1c.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)
17g.6425652C>ACA397394539AIPL1c.963G>T (p.Leu321=)
c.774G>T (p.Leu258=)
c.*835G>T (n.*835G>T)
c.897G>T (p.Leu299=)
c.251+8267G>T
c.927G>T (p.Leu309=)
c.*934G>T (n.*934G>T)
c.783G>T (p.Leu261=)
c.891G>T (p.Leu297=)
c.962G>T (p.Cys321Phe)
c.846G>T (p.Leu282=)
17g.6425652C=CA2245346904AIPL1c.963G= (p.Leu321=)
c.774G= (p.Leu258=)
c.*835G= (n.*835G=)
c.897G= (p.Leu299=)
c.251+8267G=
c.927G= (p.Leu309=)
c.*934G= (n.*934G=)
c.783G= (p.Leu261=)
c.891G= (p.Leu297=)
c.962G= (p.Cys321=)
c.846G= (p.Leu282=)
17g.6425652C>GCA287323783AIPL1c.963G>C (p.Leu321=)
c.774G>C (p.Leu258=)
c.*835G>C (n.*835G>C)
c.897G>C (p.Leu299=)
c.251+8267G>C
c.927G>C (p.Leu309=)
c.*934G>C (n.*934G>C)
c.783G>C (p.Leu261=)
c.891G>C (p.Leu297=)
c.962G>C (p.Cys321Ser)
c.846G>C (p.Leu282=)
 dbSNP
17g.6425652C>TCA397394540AIPL1c.963G>A (p.Leu321=)
c.774G>A (p.Leu258=)
c.*835G>A (n.*835G>A)
c.897G>A (p.Leu299=)
c.251+8267G>A
c.927G>A (p.Leu309=)
c.*934G>A (n.*934G>A)
c.783G>A (p.Leu261=)
c.891G>A (p.Leu297=)
c.962G>A (p.Cys321Tyr)
c.846G>A (p.Leu282=)
 ClinVar dbSNP
17g.6425653A>CCA397394541AIPL1c.962T>G (p.Leu321Arg)
c.773T>G (p.Leu258Arg)
c.*834T>G (n.*834T>G)
c.896T>G (p.Leu299Arg)
c.251+8266T>G
c.926T>G (p.Leu309Arg)
c.*933T>G (n.*933T>G)
c.782T>G (p.Leu261Arg)
c.890T>G (p.Leu297Arg)
c.961T>G (p.Cys321Gly)
c.845T>G (p.Leu282Arg)
 gnomAD v4
17g.6425653A>GCA397394542AIPL1c.962T>C (p.Leu321Pro)
c.773T>C (p.Leu258Pro)
c.*834T>C (n.*834T>C)
c.896T>C (p.Leu299Pro)
c.251+8266T>C
c.926T>C (p.Leu309Pro)
c.*933T>C (n.*933T>C)
c.782T>C (p.Leu261Pro)
c.890T>C (p.Leu297Pro)
c.961T>C (p.Cys321Arg)
c.845T>C (p.Leu282Pro)
17g.6425653A>TCA397394543AIPL1c.962T>A (p.Leu321Gln)
c.773T>A (p.Leu258Gln)
c.*834T>A (n.*834T>A)
c.896T>A (p.Leu299Gln)
c.251+8266T>A
c.926T>A (p.Leu309Gln)
c.*933T>A (n.*933T>A)
c.782T>A (p.Leu261Gln)
c.890T>A (p.Leu297Gln)
c.961T>A (p.Cys321Ser)
c.845T>A (p.Leu282Gln)
17g.6425654G>ACA8328346AIPL1c.961C>T (p.Leu321=)
c.772C>T (p.Leu258=)
c.*833C>T (n.*833C>T)
c.895C>T (p.Leu299=)
c.251+8265C>T
c.925C>T (p.Leu309=)
c.*932C>T (n.*932C>T)
c.781C>T (p.Leu261=)
c.889C>T (p.Leu297=)
c.960C>T (p.Gly320=)
c.844C>T (p.Leu282=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.6425654G>CCA397394544AIPL1c.961C>G (p.Leu321Val)
c.772C>G (p.Leu258Val)
c.*833C>G (n.*833C>G)
c.895C>G (p.Leu299Val)
c.251+8265C>G
c.925C>G (p.Leu309Val)
c.*932C>G (n.*932C>G)
c.781C>G (p.Leu261Val)
c.889C>G (p.Leu297Val)
c.960C>G (p.Gly320=)
c.844C>G (p.Leu282Val)
17g.6425654G=CA2245346905AIPL1c.961C= (p.Leu321=)
c.772C= (p.Leu258=)
c.*833C= (n.*833C=)
c.895C= (p.Leu299=)
c.251+8265C=
c.925C= (p.Leu309=)
c.*932C= (n.*932C=)
c.781C= (p.Leu261=)
c.889C= (p.Leu297=)
c.960C= (p.Gly320=)
c.844C= (p.Leu282=)
17g.6425654G>TCA397394545AIPL1c.961C>A (p.Leu321Met)
c.772C>A (p.Leu258Met)
c.*833C>A (n.*833C>A)
c.895C>A (p.Leu299Met)
c.251+8265C>A
c.925C>A (p.Leu309Met)
c.*932C>A (n.*932C>A)
c.781C>A (p.Leu261Met)
c.889C>A (p.Leu297Met)
c.960C>A (p.Gly320=)
c.844C>A (p.Leu282Met)
 gnomAD v4
17g.6425655C>ACA397394546AIPL1c.960G>T (p.Arg320=)
c.771G>T (p.Arg257=)
c.*832G>T (n.*832G>T)
c.894G>T (p.Arg298=)
c.251+8264G>T
c.924G>T (p.Arg308=)
c.*931G>T (n.*931G>T)
c.780G>T (p.Arg260=)
c.888G>T (p.Arg296=)
c.959G>T (p.Gly320Val)
c.843G>T (p.Arg281=)
17g.6425655C>GCA397394547AIPL1c.960G>C (p.Arg320=)
c.771G>C (p.Arg257=)
c.*832G>C (n.*832G>C)
c.894G>C (p.Arg298=)
c.251+8264G>C
c.924G>C (p.Arg308=)
c.*931G>C (n.*931G>C)
c.780G>C (p.Arg260=)
c.888G>C (p.Arg296=)
c.959G>C (p.Gly320Ala)
c.843G>C (p.Arg281=)
17g.6425655C>TCA397394548AIPL1c.960G>A (p.Arg320=)
c.771G>A (p.Arg257=)
c.*832G>A (n.*832G>A)
c.894G>A (p.Arg298=)
c.251+8264G>A
c.924G>A (p.Arg308=)
c.*931G>A (n.*931G>A)
c.780G>A (p.Arg260=)
c.888G>A (p.Arg296=)
c.959G>A (p.Gly320Asp)
c.843G>A (p.Arg281=)
 COSMIC
17g.6425659_6425678dupCA916083523AIPL1c.941_960dup (p.Leu321ArgfsTer14)
c.752_771dup (p.Leu258ArgfsTer14)
c.*813_*832dup (n.*813_*832dup)
c.875_894dup (p.Leu299ArgfsTer14)
c.251+8245_251+8264dup
c.905_924dup (p.Leu309ArgfsTer14)
c.*912_*931dup (n.*912_*931dup)
c.761_780dup (p.Leu261ArgfsTer14)
c.869_888dup (p.Leu297ArgfsTer14)
c.940_959dup (p.Cys321GlufsTer?)
c.824_843dup (p.Leu282ArgfsTer14)
 ClinVar dbSNP
17g.6425656C>ACA397394549AIPL1c.959G>T (p.Arg320Leu)
c.770G>T (p.Arg257Leu)
c.*831G>T (n.*831G>T)
c.893G>T (p.Arg298Leu)
c.251+8263G>T
c.923G>T (p.Arg308Leu)
c.*930G>T (n.*930G>T)
c.779G>T (p.Arg260Leu)
c.887G>T (p.Arg296Leu)
c.958G>T (p.Gly320Cys)
c.842G>T (p.Arg281Leu)
 gnomAD v4
17g.6425656C=CA2245346908AIPL1c.959G= (p.Arg320=)
c.770G= (p.Arg257=)
c.*831G= (n.*831G=)
c.893G= (p.Arg298=)
c.251+8263G=
c.923G= (p.Arg308=)
c.*930G= (n.*930G=)
c.779G= (p.Arg260=)
c.887G= (p.Arg296=)
c.958G= (p.Gly320=)
c.842G= (p.Arg281=)
17g.6425656C>GCA397394550AIPL1c.959G>C (p.Arg320Pro)
c.770G>C (p.Arg257Pro)
c.*831G>C (n.*831G>C)
c.893G>C (p.Arg298Pro)
c.251+8263G>C
c.923G>C (p.Arg308Pro)
c.*930G>C (n.*930G>C)
c.779G>C (p.Arg260Pro)
c.887G>C (p.Arg296Pro)
c.958G>C (p.Gly320Arg)
c.842G>C (p.Arg281Pro)
17g.6425656C>TCA8328347AIPL1c.959G>A (p.Arg320Gln)
c.770G>A (p.Arg257Gln)
c.*831G>A (n.*831G>A)
c.893G>A (p.Arg298Gln)
c.251+8263G>A
c.923G>A (p.Arg308Gln)
c.*930G>A (n.*930G>A)
c.779G>A (p.Arg260Gln)
c.887G>A (p.Arg296Gln)
c.958G>A (p.Gly320Ser)
c.842G>A (p.Arg281Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425657G>ACA397394551AIPL1c.958C>T (p.Arg320Trp)
c.769C>T (p.Arg257Trp)
c.*830C>T (n.*830C>T)
c.892C>T (p.Arg298Trp)
c.251+8262C>T
c.922C>T (p.Arg308Trp)
c.*929C>T (n.*929C>T)
c.778C>T (p.Arg260Trp)
c.886C>T (p.Arg296Trp)
c.957C>T (p.Ser319=)
c.841C>T (p.Arg281Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425657G>CCA397394553AIPL1c.958C>G (p.Arg320Gly)
c.769C>G (p.Arg257Gly)
c.*830C>G (n.*830C>G)
c.892C>G (p.Arg298Gly)
c.251+8262C>G
c.922C>G (p.Arg308Gly)
c.*929C>G (n.*929C>G)
c.778C>G (p.Arg260Gly)
c.886C>G (p.Arg296Gly)
c.957C>G (p.Ser319Arg)
c.841C>G (p.Arg281Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.6425657G=CA2245346912AIPL1c.958C= (p.Arg320=)
c.769C= (p.Arg257=)
c.*830C= (n.*830C=)
c.892C= (p.Arg298=)
c.251+8262C=
c.922C= (p.Arg308=)
c.*929C= (n.*929C=)
c.778C= (p.Arg260=)
c.886C= (p.Arg296=)
c.957C= (p.Ser319=)
c.841C= (p.Arg281=)
17g.6425657G>TCA397394552AIPL1c.958C>A (p.Arg320=)
c.769C>A (p.Arg257=)
c.*830C>A (n.*830C>A)
c.892C>A (p.Arg298=)
c.251+8262C>A
c.922C>A (p.Arg308=)
c.*929C>A (n.*929C>A)
c.778C>A (p.Arg260=)
c.886C>A (p.Arg296=)
c.957C>A (p.Ser319Arg)
c.841C>A (p.Arg281=)
 gnomAD v4
17g.6425657_6425660delinsGCTCCA2245346914AIPL1c.955_958delinsGAGC (p.Glu319=)
c.766_769delinsGAGC (p.Glu256=)
c.*827_*830delinsGAGC (n.*827_*830delinsGAGC)
c.889_892delinsGAGC (p.Glu297=)
c.251+8259_251+8262delinsGAGC
c.919_922delinsGAGC (p.Glu307=)
c.*926_*929delinsGAGC (n.*926_*929delinsGAGC)
c.775_778delinsGAGC (p.Glu259=)
c.883_886delinsGAGC (p.Glu295=)
c.954_957delinsGAGC (p.Arg318=)
c.838_841delinsGAGC (p.Glu280=)
17g.6425658C>ACA397394554AIPL1c.957G>T (p.Glu319Asp)
c.768G>T (p.Glu256Asp)
c.*829G>T (n.*829G>T)
c.891G>T (p.Glu297Asp)
c.251+8261G>T
c.921G>T (p.Glu307Asp)
c.*928G>T (n.*928G>T)
c.777G>T (p.Glu259Asp)
c.885G>T (p.Glu295Asp)
c.956G>T (p.Ser319Ile)
c.840G>T (p.Glu280Asp)
17g.6425658C>GCA397394555AIPL1c.957G>C (p.Glu319Asp)
c.768G>C (p.Glu256Asp)
c.*829G>C (n.*829G>C)
c.891G>C (p.Glu297Asp)
c.251+8261G>C
c.921G>C (p.Glu307Asp)
c.*928G>C (n.*928G>C)
c.777G>C (p.Glu259Asp)
c.885G>C (p.Glu295Asp)
c.956G>C (p.Ser319Thr)
c.840G>C (p.Glu280Asp)
17g.6425658C>TCA397394556AIPL1c.957G>A (p.Glu319=)
c.768G>A (p.Glu256=)
c.*829G>A (n.*829G>A)
c.891G>A (p.Glu297=)
c.251+8261G>A
c.921G>A (p.Glu307=)
c.*928G>A (n.*928G>A)
c.777G>A (p.Glu259=)
c.885G>A (p.Glu295=)
c.956G>A (p.Ser319Asn)
c.840G>A (p.Glu280=)
17g.6425666_6425668delCA645590905AIPL1c.955_957del (p.Glu319del)
c.766_768del (p.Glu256del)
c.*827_*829del (n.*827_*829del)
c.889_891del (p.Glu297del)
c.251+8259_251+8261del
c.919_921del (p.Glu307del)
c.*926_*928del (n.*926_*928del)
c.775_777del (p.Glu259del)
c.883_885del (p.Glu295del)
c.954_956del (p.Arg318del)
c.838_840del (p.Glu280del)
 dbSNP gnomAD v4 COSMIC
17g.6425659T>ACA397394557AIPL1c.956A>T (p.Glu319Val)
c.767A>T (p.Glu256Val)
c.*828A>T (n.*828A>T)
c.890A>T (p.Glu297Val)
c.251+8260A>T
c.920A>T (p.Glu307Val)
c.*927A>T (n.*927A>T)
c.776A>T (p.Glu259Val)
c.884A>T (p.Glu295Val)
c.955A>T (p.Ser319Cys)
c.839A>T (p.Glu280Val)
17g.6425659T>CCA397394558AIPL1c.956A>G (p.Glu319Gly)
c.767A>G (p.Glu256Gly)
c.*828A>G (n.*828A>G)
c.890A>G (p.Glu297Gly)
c.251+8260A>G
c.920A>G (p.Glu307Gly)
c.*927A>G (n.*927A>G)
c.776A>G (p.Glu259Gly)
c.884A>G (p.Glu295Gly)
c.955A>G (p.Ser319Gly)
c.839A>G (p.Glu280Gly)
 COSMIC
17g.6425659T>GCA397394559AIPL1c.956A>C (p.Glu319Ala)
c.767A>C (p.Glu256Ala)
c.*828A>C (n.*828A>C)
c.890A>C (p.Glu297Ala)
c.251+8260A>C
c.920A>C (p.Glu307Ala)
c.*927A>C (n.*927A>C)
c.776A>C (p.Glu259Ala)
c.884A>C (p.Glu295Ala)
c.955A>C (p.Ser319Arg)
c.839A>C (p.Glu280Ala)
17g.6425660C>ACA397394560AIPL1c.955G>T (p.Glu319Ter)
c.766G>T (p.Glu256Ter)
c.*827G>T (n.*827G>T)
c.889G>T (p.Glu297Ter)
c.251+8259G>T
c.919G>T (p.Glu307Ter)
c.*926G>T (n.*926G>T)
c.775G>T (p.Glu259Ter)
c.883G>T (p.Glu295Ter)
c.954G>T (p.Arg318Ser)
c.838G>T (p.Glu280Ter)
17g.6425660C=CA2245346920AIPL1c.955G= (p.Glu319=)
c.766G= (p.Glu256=)
c.*827G= (n.*827G=)
c.889G= (p.Glu297=)
c.251+8259G=
c.919G= (p.Glu307=)
c.*926G= (n.*926G=)
c.775G= (p.Glu259=)
c.883G= (p.Glu295=)
c.954G= (p.Arg318=)
c.838G= (p.Glu280=)
17g.6425660C>GCA397394561AIPL1c.955G>C (p.Glu319Gln)
c.766G>C (p.Glu256Gln)
c.*827G>C (n.*827G>C)
c.889G>C (p.Glu297Gln)
c.251+8259G>C
c.919G>C (p.Glu307Gln)
c.*926G>C (n.*926G>C)
c.775G>C (p.Glu259Gln)
c.883G>C (p.Glu295Gln)
c.954G>C (p.Arg318Ser)
c.838G>C (p.Glu280Gln)
 dbSNP gnomAD v3 gnomAD v4
17g.6425660C>TCA397394562AIPL1c.955G>A (p.Glu319Lys)
c.766G>A (p.Glu256Lys)
c.*827G>A (n.*827G>A)
c.889G>A (p.Glu297Lys)
c.251+8259G>A
c.919G>A (p.Glu307Lys)
c.*926G>A (n.*926G>A)
c.775G>A (p.Glu259Lys)
c.883G>A (p.Glu295Lys)
c.954G>A (p.Arg318=)
c.838G>A (p.Glu280Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425661C>ACA397394564AIPL1c.954G>T (p.Glu318Asp)
c.765G>T (p.Glu255Asp)
c.*826G>T (n.*826G>T)
c.888G>T (p.Glu296Asp)
c.251+8258G>T
c.918G>T (p.Glu306Asp)
c.*925G>T (n.*925G>T)
c.774G>T (p.Glu258Asp)
c.882G>T (p.Glu294Asp)
c.953G>T (p.Arg318Met)
c.837G>T (p.Glu279Asp)
17g.6425661C>GCA397394565AIPL1c.954G>C (p.Glu318Asp)
c.765G>C (p.Glu255Asp)
c.*826G>C (n.*826G>C)
c.888G>C (p.Glu296Asp)
c.251+8258G>C
c.918G>C (p.Glu306Asp)
c.*925G>C (n.*925G>C)
c.774G>C (p.Glu258Asp)
c.882G>C (p.Glu294Asp)
c.953G>C (p.Arg318Thr)
c.837G>C (p.Glu279Asp)
17g.6425661C>TCA397394563AIPL1c.954G>A (p.Glu318=)
c.765G>A (p.Glu255=)
c.*826G>A (n.*826G>A)
c.888G>A (p.Glu296=)
c.251+8258G>A
c.918G>A (p.Glu306=)
c.*925G>A (n.*925G>A)
c.774G>A (p.Glu258=)
c.882G>A (p.Glu294=)
c.953G>A (p.Arg318Lys)
c.837G>A (p.Glu279=)
 gnomAD v4
17g.6425662T>ACA397394566AIPL1c.953A>T (p.Glu318Val)
c.764A>T (p.Glu255Val)
c.*825A>T (n.*825A>T)
c.887A>T (p.Glu296Val)
c.251+8257A>T
c.917A>T (p.Glu306Val)
c.*924A>T (n.*924A>T)
c.773A>T (p.Glu258Val)
c.881A>T (p.Glu294Val)
c.952A>T (p.Arg318Trp)
c.836A>T (p.Glu279Val)
17g.6425662T>CCA397394567AIPL1c.953A>G (p.Glu318Gly)
c.764A>G (p.Glu255Gly)
c.*825A>G (n.*825A>G)
c.887A>G (p.Glu296Gly)
c.251+8257A>G
c.917A>G (p.Glu306Gly)
c.*924A>G (n.*924A>G)
c.773A>G (p.Glu258Gly)
c.881A>G (p.Glu294Gly)
c.952A>G (p.Arg318Gly)
c.836A>G (p.Glu279Gly)
17g.6425662T>GCA397394568AIPL1c.953A>C (p.Glu318Ala)
c.764A>C (p.Glu255Ala)
c.*825A>C (n.*825A>C)
c.887A>C (p.Glu296Ala)
c.251+8257A>C
c.917A>C (p.Glu306Ala)
c.*924A>C (n.*924A>C)
c.773A>C (p.Glu258Ala)
c.881A>C (p.Glu294Ala)
c.952A>C (p.Arg318=)
c.836A>C (p.Glu279Ala)
17g.6425663C>ACA397394569AIPL1c.952G>T (p.Glu318Ter)
c.763G>T (p.Glu255Ter)
c.*824G>T (n.*824G>T)
c.886G>T (p.Glu296Ter)
c.251+8256G>T
c.916G>T (p.Glu306Ter)
c.*923G>T (n.*923G>T)
c.772G>T (p.Glu258Ter)
c.880G>T (p.Glu294Ter)
c.951G>T (p.Arg317Ser)
c.835G>T (p.Glu279Ter)
17g.6425663C=CA2245346922AIPL1c.952G= (p.Glu318=)
c.763G= (p.Glu255=)
c.*824G= (n.*824G=)
c.886G= (p.Glu296=)
c.251+8256G=
c.916G= (p.Glu306=)
c.*923G= (n.*923G=)
c.772G= (p.Glu258=)
c.880G= (p.Glu294=)
c.951G= (p.Arg317=)
c.835G= (p.Glu279=)
17g.6425663C>GCA397394570AIPL1c.952G>C (p.Glu318Gln)
c.763G>C (p.Glu255Gln)
c.*824G>C (n.*824G>C)
c.886G>C (p.Glu296Gln)
c.251+8256G>C
c.916G>C (p.Glu306Gln)
c.*923G>C (n.*923G>C)
c.772G>C (p.Glu258Gln)
c.880G>C (p.Glu294Gln)
c.951G>C (p.Arg317Ser)
c.835G>C (p.Glu279Gln)
17g.6425663C>TCA397394571AIPL1c.952G>A (p.Glu318Lys)
c.763G>A (p.Glu255Lys)
c.*824G>A (n.*824G>A)
c.886G>A (p.Glu296Lys)
c.251+8256G>A
c.916G>A (p.Glu306Lys)
c.*923G>A (n.*923G>A)
c.772G>A (p.Glu258Lys)
c.880G>A (p.Glu294Lys)
c.951G>A (p.Arg317=)
c.835G>A (p.Glu279Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425664C>ACA397394572AIPL1c.951G>T (p.Glu317Asp)
c.762G>T (p.Glu254Asp)
c.*823G>T (n.*823G>T)
c.885G>T (p.Glu295Asp)
c.251+8255G>T
c.915G>T (p.Glu305Asp)
c.*922G>T (n.*922G>T)
c.771G>T (p.Glu257Asp)
c.879G>T (p.Glu293Asp)
c.950G>T (p.Arg317Met)
c.834G>T (p.Glu278Asp)
17g.6425664C=CA2245346924AIPL1c.951G= (p.Glu317=)
c.762G= (p.Glu254=)
c.*823G= (n.*823G=)
c.885G= (p.Glu295=)
c.251+8255G=
c.915G= (p.Glu305=)
c.*922G= (n.*922G=)
c.771G= (p.Glu257=)
c.879G= (p.Glu293=)
c.950G= (p.Arg317=)
c.834G= (p.Glu278=)
17g.6425664C>GCA397394573AIPL1c.951G>C (p.Glu317Asp)
c.762G>C (p.Glu254Asp)
c.*823G>C (n.*823G>C)
c.885G>C (p.Glu295Asp)
c.251+8255G>C
c.915G>C (p.Glu305Asp)
c.*922G>C (n.*922G>C)
c.771G>C (p.Glu257Asp)
c.879G>C (p.Glu293Asp)
c.950G>C (p.Arg317Thr)
c.834G>C (p.Glu278Asp)
17g.6425664C>TCA397394574AIPL1c.951G>A (p.Glu317=)
c.762G>A (p.Glu254=)
c.*823G>A (n.*823G>A)
c.885G>A (p.Glu295=)
c.251+8255G>A
c.915G>A (p.Glu305=)
c.*922G>A (n.*922G>A)
c.771G>A (p.Glu257=)
c.879G>A (p.Glu293=)
c.950G>A (p.Arg317Lys)
c.834G>A (p.Glu278=)
17g.6425665T>ACA397394575AIPL1c.950A>T (p.Glu317Val)
c.761A>T (p.Glu254Val)
c.*822A>T (n.*822A>T)
c.884A>T (p.Glu295Val)
c.251+8254A>T
c.914A>T (p.Glu305Val)
c.*921A>T (n.*921A>T)
c.770A>T (p.Glu257Val)
c.878A>T (p.Glu293Val)
c.949A>T (p.Arg317Trp)
c.833A>T (p.Glu278Val)
17g.6425665T>CCA8328349AIPL1c.950A>G (p.Glu317Gly)
c.761A>G (p.Glu254Gly)
c.*822A>G (n.*822A>G)
c.884A>G (p.Glu295Gly)
c.251+8254A>G
c.914A>G (p.Glu305Gly)
c.*921A>G (n.*921A>G)
c.770A>G (p.Glu257Gly)
c.878A>G (p.Glu293Gly)
c.949A>G (p.Arg317Gly)
c.833A>G (p.Glu278Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425665T>GCA397394576AIPL1c.950A>C (p.Glu317Ala)
c.761A>C (p.Glu254Ala)
c.*822A>C (n.*822A>C)
c.884A>C (p.Glu295Ala)
c.251+8254A>C
c.914A>C (p.Glu305Ala)
c.*921A>C (n.*921A>C)
c.770A>C (p.Glu257Ala)
c.878A>C (p.Glu293Ala)
c.949A>C (p.Arg317=)
c.833A>C (p.Glu278Ala)
17g.6425665T=CA2245346929AIPL1c.950A= (p.Glu317=)
c.761A= (p.Glu254=)
c.*822A= (n.*822A=)
c.884A= (p.Glu295=)
c.251+8254A=
c.914A= (p.Glu305=)
c.*921A= (n.*921A=)
c.770A= (p.Glu257=)
c.878A= (p.Glu293=)
c.949A= (p.Arg317=)
c.833A= (p.Glu278=)
17g.6425665dupCA8328348AIPL1c.950dup (p.Glu318GlyfsTer?)
c.761dup (p.Glu255GlyfsTer?)
c.*822dup (n.*822dup)
c.884dup (p.Glu296GlyfsTer?)
c.251+8254dup
c.914dup (p.Glu306GlyfsTer?)
c.*921dup (n.*921dup)
c.770dup (p.Glu258GlyfsTer?)
c.878dup (p.Glu294GlyfsTer?)
c.949dup (p.Arg317LysfsTer?)
c.833dup (p.Glu279GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425666C>ACA397394578AIPL1c.949G>T (p.Glu317Ter)
c.760G>T (p.Glu254Ter)
c.*821G>T (n.*821G>T)
c.883G>T (p.Glu295Ter)
c.251+8253G>T
c.913G>T (p.Glu305Ter)
c.*920G>T (n.*920G>T)
c.769G>T (p.Glu257Ter)
c.877G>T (p.Glu293Ter)
c.948G>T (p.Arg316Ser)
c.832G>T (p.Glu278Ter)
 gnomAD v4
17g.6425666C=CA2245346932AIPL1c.949G= (p.Glu317=)
c.760G= (p.Glu254=)
c.*821G= (n.*821G=)
c.883G= (p.Glu295=)
c.251+8253G=
c.913G= (p.Glu305=)
c.*920G= (n.*920G=)
c.769G= (p.Glu257=)
c.877G= (p.Glu293=)
c.948G= (p.Arg316=)
c.832G= (p.Glu278=)
17g.6425666C>GCA397394577AIPL1c.949G>C (p.Glu317Gln)
c.760G>C (p.Glu254Gln)
c.*821G>C (n.*821G>C)
c.883G>C (p.Glu295Gln)
c.251+8253G>C
c.913G>C (p.Glu305Gln)
c.*920G>C (n.*920G>C)
c.769G>C (p.Glu257Gln)
c.877G>C (p.Glu293Gln)
c.948G>C (p.Arg316Ser)
c.832G>C (p.Glu278Gln)
17g.6425666C>TCA8328350AIPL1c.949G>A (p.Glu317Lys)
c.760G>A (p.Glu254Lys)
c.*821G>A (n.*821G>A)
c.883G>A (p.Glu295Lys)
c.251+8253G>A
c.913G>A (p.Glu305Lys)
c.*920G>A (n.*920G>A)
c.769G>A (p.Glu257Lys)
c.877G>A (p.Glu293Lys)
c.948G>A (p.Arg316=)
c.832G>A (p.Glu278Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425667C>ACA397394579AIPL1c.948G>T (p.Gln316His)
c.759G>T (p.Gln253His)
c.*820G>T (n.*820G>T)
c.882G>T (p.Gln294His)
c.251+8252G>T
c.912G>T (p.Gln304His)
c.*919G>T (n.*919G>T)
c.768G>T (p.Gln256His)
c.876G>T (p.Gln292His)
c.947G>T (p.Arg316Met)
c.831G>T (p.Gln277His)
 gnomAD v4
17g.6425667C>GCA397394580AIPL1c.948G>C (p.Gln316His)
c.759G>C (p.Gln253His)
c.*820G>C (n.*820G>C)
c.882G>C (p.Gln294His)
c.251+8252G>C
c.912G>C (p.Gln304His)
c.*919G>C (n.*919G>C)
c.768G>C (p.Gln256His)
c.876G>C (p.Gln292His)
c.947G>C (p.Arg316Thr)
c.831G>C (p.Gln277His)
17g.6425667C>TCA397394581AIPL1c.948G>A (p.Gln316=)
c.759G>A (p.Gln253=)
c.*820G>A (n.*820G>A)
c.882G>A (p.Gln294=)
c.251+8252G>A
c.912G>A (p.Gln304=)
c.*919G>A (n.*919G>A)
c.768G>A (p.Gln256=)
c.876G>A (p.Gln292=)
c.947G>A (p.Arg316Lys)
c.831G>A (p.Gln277=)
17g.6425668T>ACA397394582AIPL1c.947A>T (p.Gln316Leu)
c.758A>T (p.Gln253Leu)
c.*819A>T (n.*819A>T)
c.881A>T (p.Gln294Leu)
c.251+8251A>T
c.911A>T (p.Gln304Leu)
c.*918A>T (n.*918A>T)
c.767A>T (p.Gln256Leu)
c.875A>T (p.Gln292Leu)
c.946A>T (p.Arg316Trp)
c.830A>T (p.Gln277Leu)
17g.6425668T>CCA397394583AIPL1c.947A>G (p.Gln316Arg)
c.758A>G (p.Gln253Arg)
c.*819A>G (n.*819A>G)
c.881A>G (p.Gln294Arg)
c.251+8251A>G
c.911A>G (p.Gln304Arg)
c.*918A>G (n.*918A>G)
c.767A>G (p.Gln256Arg)
c.875A>G (p.Gln292Arg)
c.946A>G (p.Arg316Gly)
c.830A>G (p.Gln277Arg)
17g.6425668T>GCA397394584AIPL1c.947A>C (p.Gln316Pro)
c.758A>C (p.Gln253Pro)
c.*819A>C (n.*819A>C)
c.881A>C (p.Gln294Pro)
c.251+8251A>C
c.911A>C (p.Gln304Pro)
c.*918A>C (n.*918A>C)
c.767A>C (p.Gln256Pro)
c.875A>C (p.Gln292Pro)
c.946A>C (p.Arg316=)
c.830A>C (p.Gln277Pro)
17g.6425669G>ACA397394585AIPL1c.946C>T (p.Gln316Ter)
c.757C>T (p.Gln253Ter)
c.*818C>T (n.*818C>T)
c.880C>T (p.Gln294Ter)
c.251+8250C>T
c.910C>T (p.Gln304Ter)
c.*917C>T (n.*917C>T)
c.766C>T (p.Gln256Ter)
c.874C>T (p.Gln292Ter)
c.945C>T (p.Ser315=)
c.829C>T (p.Gln277Ter)
 gnomAD v4
17g.6425669G>CCA397394586AIPL1c.946C>G (p.Gln316Glu)
c.757C>G (p.Gln253Glu)
c.*818C>G (n.*818C>G)
c.880C>G (p.Gln294Glu)
c.251+8250C>G
c.910C>G (p.Gln304Glu)
c.*917C>G (n.*917C>G)
c.766C>G (p.Gln256Glu)
c.874C>G (p.Gln292Glu)
c.945C>G (p.Ser315Arg)
c.829C>G (p.Gln277Glu)
17g.6425669G>TCA397394587AIPL1c.946C>A (p.Gln316Lys)
c.757C>A (p.Gln253Lys)
c.*818C>A (n.*818C>A)
c.880C>A (p.Gln294Lys)
c.251+8250C>A
c.910C>A (p.Gln304Lys)
c.*917C>A (n.*917C>A)
c.766C>A (p.Gln256Lys)
c.874C>A (p.Gln292Lys)
c.945C>A (p.Ser315Arg)
c.829C>A (p.Gln277Lys)
 gnomAD v4
17g.6425670C>ACA397394588AIPL1c.945G>T (p.Lys315Asn)
c.756G>T (p.Lys252Asn)
c.*817G>T (n.*817G>T)
c.879G>T (p.Lys293Asn)
c.251+8249G>T
c.909G>T (p.Lys303Asn)
c.*916G>T (n.*916G>T)
c.765G>T (p.Lys255Asn)
c.873G>T (p.Lys291Asn)
c.944G>T (p.Ser315Ile)
c.828G>T (p.Lys276Asn)
17g.6425670C>GCA397394589AIPL1c.945G>C (p.Lys315Asn)
c.756G>C (p.Lys252Asn)
c.*817G>C (n.*817G>C)
c.879G>C (p.Lys293Asn)
c.251+8249G>C
c.909G>C (p.Lys303Asn)
c.*916G>C (n.*916G>C)
c.765G>C (p.Lys255Asn)
c.873G>C (p.Lys291Asn)
c.944G>C (p.Ser315Thr)
c.828G>C (p.Lys276Asn)
17g.6425670C>TCA397394590AIPL1c.945G>A (p.Lys315=)
c.756G>A (p.Lys252=)
c.*817G>A (n.*817G>A)
c.879G>A (p.Lys293=)
c.251+8249G>A
c.909G>A (p.Lys303=)
c.*916G>A (n.*916G>A)
c.765G>A (p.Lys255=)
c.873G>A (p.Lys291=)
c.944G>A (p.Ser315Asn)
c.828G>A (p.Lys276=)
17g.6425671T>ACA397394593AIPL1c.944A>T (p.Lys315Met)
c.755A>T (p.Lys252Met)
c.*816A>T (n.*816A>T)
c.878A>T (p.Lys293Met)
c.251+8248A>T
c.908A>T (p.Lys303Met)
c.*915A>T (n.*915A>T)
c.764A>T (p.Lys255Met)
c.872A>T (p.Lys291Met)
c.943A>T (p.Ser315Cys)
c.827A>T (p.Lys276Met)
17g.6425671T>CCA397394592AIPL1c.944A>G (p.Lys315Arg)
c.755A>G (p.Lys252Arg)
c.*816A>G (n.*816A>G)
c.878A>G (p.Lys293Arg)
c.251+8248A>G
c.908A>G (p.Lys303Arg)
c.*915A>G (n.*915A>G)
c.764A>G (p.Lys255Arg)
c.872A>G (p.Lys291Arg)
c.943A>G (p.Ser315Gly)
c.827A>G (p.Lys276Arg)
17g.6425671T>GCA397394591AIPL1c.944A>C (p.Lys315Thr)
c.755A>C (p.Lys252Thr)
c.*816A>C (n.*816A>C)
c.878A>C (p.Lys293Thr)
c.251+8248A>C
c.908A>C (p.Lys303Thr)
c.*915A>C (n.*915A>C)
c.764A>C (p.Lys255Thr)
c.872A>C (p.Lys291Thr)
c.943A>C (p.Ser315Arg)
c.827A>C (p.Lys276Thr)
17g.6425672T>ACA397394594AIPL1c.943A>T (p.Lys315Ter)
c.754A>T (p.Lys252Ter)
c.*815A>T (n.*815A>T)
c.877A>T (p.Lys293Ter)
c.251+8247A>T
c.907A>T (p.Lys303Ter)
c.*914A>T (n.*914A>T)
c.763A>T (p.Lys255Ter)
c.871A>T (p.Lys291Ter)
c.942A>T (p.Arg314Ser)
c.826A>T (p.Lys276Ter)
17g.6425672T>CCA397394596AIPL1c.943A>G (p.Lys315Glu)
c.754A>G (p.Lys252Glu)
c.*815A>G (n.*815A>G)
c.877A>G (p.Lys293Glu)
c.251+8247A>G
c.907A>G (p.Lys303Glu)
c.*914A>G (n.*914A>G)
c.763A>G (p.Lys255Glu)
c.871A>G (p.Lys291Glu)
c.942A>G (p.Arg314=)
c.826A>G (p.Lys276Glu)
17g.6425672T>GCA397394595AIPL1c.943A>C (p.Lys315Gln)
c.754A>C (p.Lys252Gln)
c.*815A>C (n.*815A>C)
c.877A>C (p.Lys293Gln)
c.251+8247A>C
c.907A>C (p.Lys303Gln)
c.*914A>C (n.*914A>C)
c.763A>C (p.Lys255Gln)
c.871A>C (p.Lys291Gln)
c.942A>C (p.Arg314Ser)
c.826A>C (p.Lys276Gln)
17g.6425673C>ACA397394597AIPL1c.942G>T (p.Glu314Asp)
c.753G>T (p.Glu251Asp)
c.*814G>T (n.*814G>T)
c.876G>T (p.Glu292Asp)
c.251+8246G>T
c.906G>T (p.Glu302Asp)
c.*913G>T (n.*913G>T)
c.762G>T (p.Glu254Asp)
c.870G>T (p.Glu290Asp)
c.941G>T (p.Arg314Ile)
c.825G>T (p.Glu275Asp)
17g.6425673C>GCA397394599AIPL1c.942G>C (p.Glu314Asp)
c.753G>C (p.Glu251Asp)
c.*814G>C (n.*814G>C)
c.876G>C (p.Glu292Asp)
c.251+8246G>C
c.906G>C (p.Glu302Asp)
c.*913G>C (n.*913G>C)
c.762G>C (p.Glu254Asp)
c.870G>C (p.Glu290Asp)
c.941G>C (p.Arg314Thr)
c.825G>C (p.Glu275Asp)
17g.6425673C>TCA397394598AIPL1c.942G>A (p.Glu314=)
c.753G>A (p.Glu251=)
c.*814G>A (n.*814G>A)
c.876G>A (p.Glu292=)
c.251+8246G>A
c.906G>A (p.Glu302=)
c.*913G>A (n.*913G>A)
c.762G>A (p.Glu254=)
c.870G>A (p.Glu290=)
c.941G>A (p.Arg314Lys)
c.825G>A (p.Glu275=)
17g.6425674T>ACA397394600AIPL1c.941A>T (p.Glu314Val)
c.752A>T (p.Glu251Val)
c.*813A>T (n.*813A>T)
c.875A>T (p.Glu292Val)
c.251+8245A>T
c.905A>T (p.Glu302Val)
c.*912A>T (n.*912A>T)
c.761A>T (p.Glu254Val)
c.869A>T (p.Glu290Val)
c.940A>T (p.Arg314Ter)
c.824A>T (p.Glu275Val)
17g.6425674T>CCA397394601AIPL1c.941A>G (p.Glu314Gly)
c.752A>G (p.Glu251Gly)
c.*813A>G (n.*813A>G)
c.875A>G (p.Glu292Gly)
c.251+8245A>G
c.905A>G (p.Glu302Gly)
c.*912A>G (n.*912A>G)
c.761A>G (p.Glu254Gly)
c.869A>G (p.Glu290Gly)
c.940A>G (p.Arg314Gly)
c.824A>G (p.Glu275Gly)
17g.6425674T>GCA397394602AIPL1c.941A>C (p.Glu314Ala)
c.752A>C (p.Glu251Ala)
c.*813A>C (n.*813A>C)
c.875A>C (p.Glu292Ala)
c.251+8245A>C
c.905A>C (p.Glu302Ala)
c.*912A>C (n.*912A>C)
c.761A>C (p.Glu254Ala)
c.869A>C (p.Glu290Ala)
c.940A>C (p.Arg314=)
c.824A>C (p.Glu275Ala)
17g.6425675C>ACA397394603AIPL1c.940G>T (p.Glu314Ter)
c.751G>T (p.Glu251Ter)
c.*812G>T (n.*812G>T)
c.874G>T (p.Glu292Ter)
c.251+8244G>T
c.904G>T (p.Glu302Ter)
c.*911G>T (n.*911G>T)
c.760G>T (p.Glu254Ter)
c.868G>T (p.Glu290Ter)
c.939G>T (p.Arg313=)
c.823G>T (p.Glu275Ter)
17g.6425675C=CA2245346934AIPL1c.940G= (p.Glu314=)
c.751G= (p.Glu251=)
c.*812G= (n.*812G=)
c.874G= (p.Glu292=)
c.251+8244G=
c.904G= (p.Glu302=)
c.*911G= (n.*911G=)
c.760G= (p.Glu254=)
c.868G= (p.Glu290=)
c.939G= (p.Arg313=)
c.823G= (p.Glu275=)
17g.6425675C>GCA397394604AIPL1c.940G>C (p.Glu314Gln)
c.751G>C (p.Glu251Gln)
c.*812G>C (n.*812G>C)
c.874G>C (p.Glu292Gln)
c.251+8244G>C
c.904G>C (p.Glu302Gln)
c.*911G>C (n.*911G>C)
c.760G>C (p.Glu254Gln)
c.868G>C (p.Glu290Gln)
c.939G>C (p.Arg313=)
c.823G>C (p.Glu275Gln)
 gnomAD v4
17g.6425675C>TCA8328351AIPL1c.940G>A (p.Glu314Lys)
c.751G>A (p.Glu251Lys)
c.*812G>A (n.*812G>A)
c.874G>A (p.Glu292Lys)
c.251+8244G>A
c.904G>A (p.Glu302Lys)
c.*911G>A (n.*911G>A)
c.760G>A (p.Glu254Lys)
c.868G>A (p.Glu290Lys)
c.939G>A (p.Arg313=)
c.823G>A (p.Glu275Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425676C>ACA397394605AIPL1c.939G>T (p.Ala313=)
c.750G>T (p.Ala250=)
c.*811G>T (n.*811G>T)
c.873G>T (p.Ala291=)
c.251+8243G>T
c.903G>T (p.Ala301=)
c.*910G>T (n.*910G>T)
c.759G>T (p.Ala253=)
c.867G>T (p.Ala289=)
c.938G>T (p.Arg313Leu)
c.822G>T (p.Ala274=)
17g.6425676C=CA2245346937AIPL1c.939G= (p.Ala313=)
c.750G= (p.Ala250=)
c.*811G= (n.*811G=)
c.873G= (p.Ala291=)
c.251+8243G=
c.903G= (p.Ala301=)
c.*910G= (n.*910G=)
c.759G= (p.Ala253=)
c.867G= (p.Ala289=)
c.938G= (p.Arg313=)
c.822G= (p.Ala274=)
17g.6425676C>GCA397394606AIPL1c.939G>C (p.Ala313=)
c.750G>C (p.Ala250=)
c.*811G>C (n.*811G>C)
c.873G>C (p.Ala291=)
c.251+8243G>C
c.903G>C (p.Ala301=)
c.*910G>C (n.*910G>C)
c.759G>C (p.Ala253=)
c.867G>C (p.Ala289=)
c.938G>C (p.Arg313Pro)
c.822G>C (p.Ala274=)
 ClinVar gnomAD v4
17g.6425676C>TCA287323813AIPL1c.939G>A (p.Ala313=)
c.750G>A (p.Ala250=)
c.*811G>A (n.*811G>A)
c.873G>A (p.Ala291=)
c.251+8243G>A
c.903G>A (p.Ala301=)
c.*910G>A (n.*910G>A)
c.759G>A (p.Ala253=)
c.867G>A (p.Ala289=)
c.938G>A (p.Arg313Gln)
c.822G>A (p.Ala274=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6425677G>ACA8328352AIPL1c.938C>T (p.Ala313Val)
c.749C>T (p.Ala250Val)
c.*810C>T (n.*810C>T)
c.872C>T (p.Ala291Val)
c.251+8242C>T
c.902C>T (p.Ala301Val)
c.*909C>T (n.*909C>T)
c.758C>T (p.Ala253Val)
c.866C>T (p.Ala289Val)
c.937C>T (p.Arg313Trp)
c.821C>T (p.Ala274Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425677G>CCA397394607AIPL1c.938C>G (p.Ala313Gly)
c.749C>G (p.Ala250Gly)
c.*810C>G (n.*810C>G)
c.872C>G (p.Ala291Gly)
c.251+8242C>G
c.902C>G (p.Ala301Gly)
c.*909C>G (n.*909C>G)
c.758C>G (p.Ala253Gly)
c.866C>G (p.Ala289Gly)
c.937C>G (p.Arg313Gly)
c.821C>G (p.Ala274Gly)
17g.6425677G=CA2245346942AIPL1c.938C= (p.Ala313=)
c.749C= (p.Ala250=)
c.*810C= (n.*810C=)
c.872C= (p.Ala291=)
c.251+8242C=
c.902C= (p.Ala301=)
c.*909C= (n.*909C=)
c.758C= (p.Ala253=)
c.866C= (p.Ala289=)
c.937C= (p.Arg313=)
c.821C= (p.Ala274=)
17g.6425677G>TCA397394608AIPL1c.938C>A (p.Ala313Glu)
c.749C>A (p.Ala250Glu)
c.*810C>A (n.*810C>A)
c.872C>A (p.Ala291Glu)
c.251+8242C>A
c.902C>A (p.Ala301Glu)
c.*909C>A (n.*909C>A)
c.758C>A (p.Ala253Glu)
c.866C>A (p.Ala289Glu)
c.937C>A (p.Arg313=)
c.821C>A (p.Ala274Glu)
 gnomAD v4
17g.6425678C>ACA228922AIPL1c.937G>T (p.Ala313Ser)
c.748G>T (p.Ala250Ser)
c.*809G>T (n.*809G>T)
c.871G>T (p.Ala291Ser)
c.251+8241G>T
c.901G>T (p.Ala301Ser)
c.*908G>T (n.*908G>T)
c.757G>T (p.Ala253Ser)
c.865G>T (p.Ala289Ser)
c.936G>T (p.Trp312Cys)
c.820G>T (p.Ala274Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425678C=CA2245346946AIPL1c.937G= (p.Ala313=)
c.748G= (p.Ala250=)
c.*809G= (n.*809G=)
c.871G= (p.Ala291=)
c.251+8241G=
c.901G= (p.Ala301=)
c.*908G= (n.*908G=)
c.757G= (p.Ala253=)
c.865G= (p.Ala289=)
c.936G= (p.Trp312=)
c.820G= (p.Ala274=)
17g.6425678C>GCA397394609AIPL1c.937G>C (p.Ala313Pro)
c.748G>C (p.Ala250Pro)
c.*809G>C (n.*809G>C)
c.871G>C (p.Ala291Pro)
c.251+8241G>C
c.901G>C (p.Ala301Pro)
c.*908G>C (n.*908G>C)
c.757G>C (p.Ala253Pro)
c.865G>C (p.Ala289Pro)
c.936G>C (p.Trp312Cys)
c.820G>C (p.Ala274Pro)
17g.6425678C>TCA287323859AIPL1c.937G>A (p.Ala313Thr)
c.748G>A (p.Ala250Thr)
c.*809G>A (n.*809G>A)
c.871G>A (p.Ala291Thr)
c.251+8241G>A
c.901G>A (p.Ala301Thr)
c.*908G>A (n.*908G>A)
c.757G>A (p.Ala253Thr)
c.865G>A (p.Ala289Thr)
c.936G>A (p.Trp312Ter)
c.820G>A (p.Ala274Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.6425679dupCA2245346944AIPL1c.937dup (p.Ala313GlyfsTer?)
c.748dup (p.Ala250GlyfsTer?)
c.*809dup (n.*809dup)
c.871dup (p.Ala291GlyfsTer?)
c.251+8241dup
c.901dup (p.Ala301GlyfsTer?)
c.*908dup (n.*908dup)
c.757dup (p.Ala253GlyfsTer?)
c.865dup (p.Ala289GlyfsTer?)
c.936dup (p.Arg313AlafsTer?)
c.820dup (p.Ala274GlyfsTer?)
 dbSNP

Number of alleles fetched