Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6425681T>ACA397394616AIPL1c.934A>T (p.Met312Leu)
c.745A>T (p.Met249Leu)
c.*806A>T (n.*806A>T)
c.868A>T (p.Met290Leu)
c.251+8238A>T
c.898A>T (p.Met300Leu)
c.*905A>T (n.*905A>T)
c.754A>T (p.Met252Leu)
c.862A>T (p.Met288Leu)
c.933A>T (p.Ala311=)
c.817A>T (p.Met273Leu)
17g.6425681T>CCA397394617AIPL1c.934A>G (p.Met312Val)
c.745A>G (p.Met249Val)
c.*806A>G (n.*806A>G)
c.868A>G (p.Met290Val)
c.251+8238A>G
c.898A>G (p.Met300Val)
c.*905A>G (n.*905A>G)
c.754A>G (p.Met252Val)
c.862A>G (p.Met288Val)
c.933A>G (p.Ala311=)
c.817A>G (p.Met273Val)
 gnomAD v4
17g.6425681T>GCA397394618AIPL1c.934A>C (p.Met312Leu)
c.745A>C (p.Met249Leu)
c.*806A>C (n.*806A>C)
c.868A>C (p.Met290Leu)
c.251+8238A>C
c.898A>C (p.Met300Leu)
c.*905A>C (n.*905A>C)
c.754A>C (p.Met252Leu)
c.862A>C (p.Met288Leu)
c.933A>C (p.Ala311=)
c.817A>C (p.Met273Leu)
 ClinVar dbSNP
17g.6425682G>ACA397394620AIPL1c.933C>T (p.Arg311=)
c.744C>T (p.Arg248=)
c.*805C>T (n.*805C>T)
c.867C>T (p.Arg289=)
c.251+8237C>T
c.897C>T (p.Arg299=)
c.*904C>T (n.*904C>T)
c.753C>T (p.Arg251=)
c.861C>T (p.Arg287=)
c.932C>T (p.Ala311Val)
c.816C>T (p.Arg272=)
 dbSNP gnomAD v3 gnomAD v4
17g.6425682G>CCA397394621AIPL1c.933C>G (p.Arg311=)
c.744C>G (p.Arg248=)
c.*805C>G (n.*805C>G)
c.867C>G (p.Arg289=)
c.251+8237C>G
c.897C>G (p.Arg299=)
c.*904C>G (n.*904C>G)
c.753C>G (p.Arg251=)
c.861C>G (p.Arg287=)
c.932C>G (p.Ala311Gly)
c.816C>G (p.Arg272=)
17g.6425682G=CA2245346952AIPL1c.933C= (p.Arg311=)
c.744C= (p.Arg248=)
c.*805C= (n.*805C=)
c.867C= (p.Arg289=)
c.251+8237C=
c.897C= (p.Arg299=)
c.*904C= (n.*904C=)
c.753C= (p.Arg251=)
c.861C= (p.Arg287=)
c.932C= (p.Ala311=)
c.816C= (p.Arg272=)
17g.6425682G>TCA397394619AIPL1c.933C>A (p.Arg311=)
c.744C>A (p.Arg248=)
c.*805C>A (n.*805C>A)
c.867C>A (p.Arg289=)
c.251+8237C>A
c.897C>A (p.Arg299=)
c.*904C>A (n.*904C>A)
c.753C>A (p.Arg251=)
c.861C>A (p.Arg287=)
c.932C>A (p.Ala311Glu)
c.816C>A (p.Arg272=)
17g.6425683C>ACA397394622AIPL1c.932G>T (p.Arg311Leu)
c.743G>T (p.Arg248Leu)
c.*804G>T (n.*804G>T)
c.866G>T (p.Arg289Leu)
c.251+8236G>T
c.896G>T (p.Arg299Leu)
c.*903G>T (n.*903G>T)
c.752G>T (p.Arg251Leu)
c.860G>T (p.Arg287Leu)
c.931G>T (p.Ala311Ser)
c.815G>T (p.Arg272Leu)
 dbSNP gnomAD v4
17g.6425683C=CA2245346954AIPL1c.932G= (p.Arg311=)
c.743G= (p.Arg248=)
c.*804G= (n.*804G=)
c.866G= (p.Arg289=)
c.251+8236G=
c.896G= (p.Arg299=)
c.*903G= (n.*903G=)
c.752G= (p.Arg251=)
c.860G= (p.Arg287=)
c.931G= (p.Ala311=)
c.815G= (p.Arg272=)
17g.6425683C>GCA397394623AIPL1c.932G>C (p.Arg311Pro)
c.743G>C (p.Arg248Pro)
c.*804G>C (n.*804G>C)
c.866G>C (p.Arg289Pro)
c.251+8236G>C
c.896G>C (p.Arg299Pro)
c.*903G>C (n.*903G>C)
c.752G>C (p.Arg251Pro)
c.860G>C (p.Arg287Pro)
c.931G>C (p.Ala311Pro)
c.815G>C (p.Arg272Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425683C>TCA397394624AIPL1c.932G>A (p.Arg311His)
c.743G>A (p.Arg248His)
c.*804G>A (n.*804G>A)
c.866G>A (p.Arg289His)
c.251+8236G>A
c.896G>A (p.Arg299His)
c.*903G>A (n.*903G>A)
c.752G>A (p.Arg251His)
c.860G>A (p.Arg287His)
c.931G>A (p.Ala311Thr)
c.815G>A (p.Arg272His)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.6425684G>ACA8328353AIPL1c.931C>T (p.Arg311Cys)
c.742C>T (p.Arg248Cys)
c.*803C>T (n.*803C>T)
c.865C>T (p.Arg289Cys)
c.251+8235C>T
c.895C>T (p.Arg299Cys)
c.*902C>T (n.*902C>T)
c.751C>T (p.Arg251Cys)
c.859C>T (p.Arg287Cys)
c.931-1C>T (n.931-1C>T)
c.814C>T (p.Arg272Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425684G>CCA397394625AIPL1c.931C>G (p.Arg311Gly)
c.742C>G (p.Arg248Gly)
c.*803C>G (n.*803C>G)
c.865C>G (p.Arg289Gly)
c.251+8235C>G
c.895C>G (p.Arg299Gly)
c.*902C>G (n.*902C>G)
c.751C>G (p.Arg251Gly)
c.859C>G (p.Arg287Gly)
c.931-1C>G (n.931-1C>G)
c.814C>G (p.Arg272Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.6425684G=CA2245346956AIPL1c.931C= (p.Arg311=)
c.742C= (p.Arg248=)
c.*803C= (n.*803C=)
c.865C= (p.Arg289=)
c.251+8235C=
c.895C= (p.Arg299=)
c.*902C= (n.*902C=)
c.751C= (p.Arg251=)
c.859C= (p.Arg287=)
c.931-1C= (n.931-1C=)
c.814C= (p.Arg272=)
17g.6425684G>TCA397394626AIPL1c.931C>A (p.Arg311Ser)
c.742C>A (p.Arg248Ser)
c.*803C>A (n.*803C>A)
c.865C>A (p.Arg289Ser)
c.251+8235C>A
c.895C>A (p.Arg299Ser)
c.*902C>A (n.*902C>A)
c.751C>A (p.Arg251Ser)
c.859C>A (p.Arg287Ser)
c.931-1C>A (n.931-1C>A)
c.814C>A (p.Arg272Ser)
 dbSNP
17g.6425685G>ACA397394627AIPL1c.930C>T (p.Asn310=)
c.741C>T (p.Asn247=)
c.*802C>T (n.*802C>T)
c.864C>T (p.Asn288=)
c.251+8234C>T
c.894C>T (p.Asn298=)
c.*901C>T (n.*901C>T)
c.750C>T (p.Asn250=)
c.858C>T (p.Asn286=)
c.813C>T (p.Asn271=)
17g.6425685G>CCA397394628AIPL1c.930C>G (p.Asn310Lys)
c.741C>G (p.Asn247Lys)
c.*802C>G (n.*802C>G)
c.864C>G (p.Asn288Lys)
c.251+8234C>G
c.894C>G (p.Asn298Lys)
c.*901C>G (n.*901C>G)
c.750C>G (p.Asn250Lys)
c.858C>G (p.Asn286Lys)
c.813C>G (p.Asn271Lys)
17g.6425685G>TCA397394629AIPL1c.930C>A (p.Asn310Lys)
c.741C>A (p.Asn247Lys)
c.*802C>A (n.*802C>A)
c.864C>A (p.Asn288Lys)
c.251+8234C>A
c.894C>A (p.Asn298Lys)
c.*901C>A (n.*901C>A)
c.750C>A (p.Asn250Lys)
c.858C>A (p.Asn286Lys)
c.813C>A (p.Asn271Lys)
 gnomAD v4
17g.6425686T>ACA397394630AIPL1c.929A>T (p.Asn310Ile)
c.740A>T (p.Asn247Ile)
c.*801A>T (n.*801A>T)
c.863A>T (p.Asn288Ile)
c.251+8233A>T
c.893A>T (p.Asn298Ile)
c.*900A>T (n.*900A>T)
c.749A>T (p.Asn250Ile)
c.857A>T (p.Asn286Ile)
c.812A>T (p.Asn271Ile)
17g.6425686T>CCA397394631AIPL1c.929A>G (p.Asn310Ser)
c.740A>G (p.Asn247Ser)
c.*801A>G (n.*801A>G)
c.863A>G (p.Asn288Ser)
c.251+8233A>G
c.893A>G (p.Asn298Ser)
c.*900A>G (n.*900A>G)
c.749A>G (p.Asn250Ser)
c.857A>G (p.Asn286Ser)
c.812A>G (p.Asn271Ser)
17g.6425686T>GCA397394632AIPL1c.929A>C (p.Asn310Thr)
c.740A>C (p.Asn247Thr)
c.*801A>C (n.*801A>C)
c.863A>C (p.Asn288Thr)
c.251+8233A>C
c.893A>C (p.Asn298Thr)
c.*900A>C (n.*900A>C)
c.749A>C (p.Asn250Thr)
c.857A>C (p.Asn286Thr)
c.812A>C (p.Asn271Thr)
17g.6425687dupCA2635688840AIPL1c.929dup (p.Asn310LysfsTer?)
c.740dup (p.Asn247LysfsTer?)
c.*801dup (n.*801dup)
c.863dup (p.Asn288LysfsTer?)
c.251+8233dup
c.893dup (p.Asn298LysfsTer?)
c.*900dup (n.*900dup)
c.749dup (p.Asn250LysfsTer?)
c.857dup (p.Asn286LysfsTer?)
c.812dup (p.Asn271LysfsTer?)
 gnomAD v4
17g.6425687T>ACA397394634AIPL1c.928A>T (p.Asn310Tyr)
c.739A>T (p.Asn247Tyr)
c.*800A>T (n.*800A>T)
c.862A>T (p.Asn288Tyr)
c.251+8232A>T
c.892A>T (p.Asn298Tyr)
c.*899A>T (n.*899A>T)
c.748A>T (p.Asn250Tyr)
c.856A>T (p.Asn286Tyr)
c.811A>T (p.Asn271Tyr)
17g.6425687T>CCA397394635AIPL1c.928A>G (p.Asn310Asp)
c.739A>G (p.Asn247Asp)
c.*800A>G (n.*800A>G)
c.862A>G (p.Asn288Asp)
c.251+8232A>G
c.892A>G (p.Asn298Asp)
c.*899A>G (n.*899A>G)
c.748A>G (p.Asn250Asp)
c.856A>G (p.Asn286Asp)
c.811A>G (p.Asn271Asp)
17g.6425687T>GCA397394633AIPL1c.928A>C (p.Asn310His)
c.739A>C (p.Asn247His)
c.*800A>C (n.*800A>C)
c.862A>C (p.Asn288His)
c.251+8232A>C
c.892A>C (p.Asn298His)
c.*899A>C (n.*899A>C)
c.748A>C (p.Asn250His)
c.856A>C (p.Asn286His)
c.811A>C (p.Asn271His)
17g.6425688C>ACA397394636AIPL1c.927G>T (p.Glu309Asp)
c.738G>T (p.Glu246Asp)
c.*799G>T (n.*799G>T)
c.861G>T (p.Glu287Asp)
c.251+8231G>T
c.891G>T (p.Glu297Asp)
c.*898G>T (n.*898G>T)
c.747G>T (p.Glu249Asp)
c.855G>T (p.Glu285Asp)
c.810G>T (p.Glu270Asp)
17g.6425688C>GCA397394637AIPL1c.927G>C (p.Glu309Asp)
c.738G>C (p.Glu246Asp)
c.*799G>C (n.*799G>C)
c.861G>C (p.Glu287Asp)
c.251+8231G>C
c.891G>C (p.Glu297Asp)
c.*898G>C (n.*898G>C)
c.747G>C (p.Glu249Asp)
c.855G>C (p.Glu285Asp)
c.810G>C (p.Glu270Asp)
17g.6425688C>TCA497687463AIPL1c.927G>A (p.Glu309=)
c.738G>A (p.Glu246=)
c.*799G>A (n.*799G>A)
c.861G>A (p.Glu287=)
c.251+8231G>A
c.891G>A (p.Glu297=)
c.*898G>A (n.*898G>A)
c.747G>A (p.Glu249=)
c.855G>A (p.Glu285=)
c.810G>A (p.Glu270=)
17g.6425688_6425689insAGCTCCCTGCGGTTCAGGCA2695224199AIPL1c.926_927insCCTGAACCGCAGGGAGCT (p.Glu309delinsAspLeuAsnArgArgGluLeu)
c.737_738insCCTGAACCGCAGGGAGCT (p.Glu246delinsAspLeuAsnArgArgGluLeu)
c.*798_*799insCCTGAACCGCAGGGAGCT (n.*798_*799insCCTGAACCGCAGGGAGCT)
c.860_861insCCTGAACCGCAGGGAGCT (p.Glu287delinsAspLeuAsnArgArgGluLeu)
c.251+8230_251+8231insCCTGAACCGCAGGGAGCT
c.890_891insCCTGAACCGCAGGGAGCT (p.Glu297delinsAspLeuAsnArgArgGluLeu)
c.*897_*898insCCTGAACCGCAGGGAGCT (n.*897_*898insCCTGAACCGCAGGGAGCT)
c.746_747insCCTGAACCGCAGGGAGCT (p.Glu249delinsAspLeuAsnArgArgGluLeu)
c.854_855insCCTGAACCGCAGGGAGCT (p.Glu285delinsAspLeuAsnArgArgGluLeu)
c.809_810insCCTGAACCGCAGGGAGCT (p.Glu270delinsAspLeuAsnArgArgGluLeu)
17g.6425689T>ACA397394638AIPL1c.926A>T (p.Glu309Val)
c.737A>T (p.Glu246Val)
c.*798A>T (n.*798A>T)
c.860A>T (p.Glu287Val)
c.251+8230A>T
c.890A>T (p.Glu297Val)
c.*897A>T (n.*897A>T)
c.746A>T (p.Glu249Val)
c.854A>T (p.Glu285Val)
c.809A>T (p.Glu270Val)
17g.6425689T>CCA397394639AIPL1c.926A>G (p.Glu309Gly)
c.737A>G (p.Glu246Gly)
c.*798A>G (n.*798A>G)
c.860A>G (p.Glu287Gly)
c.251+8230A>G
c.890A>G (p.Glu297Gly)
c.*897A>G (n.*897A>G)
c.746A>G (p.Glu249Gly)
c.854A>G (p.Glu285Gly)
c.809A>G (p.Glu270Gly)
17g.6425689T>GCA397394640AIPL1c.926A>C (p.Glu309Ala)
c.737A>C (p.Glu246Ala)
c.*798A>C (n.*798A>C)
c.860A>C (p.Glu287Ala)
c.251+8230A>C
c.890A>C (p.Glu297Ala)
c.*897A>C (n.*897A>C)
c.746A>C (p.Glu249Ala)
c.854A>C (p.Glu285Ala)
c.809A>C (p.Glu270Ala)
17g.6425690C>ACA397394643AIPL1c.925G>T (p.Glu309Ter)
c.736G>T (p.Glu246Ter)
c.*797G>T (n.*797G>T)
c.859G>T (p.Glu287Ter)
c.251+8229G>T
c.889G>T (p.Glu297Ter)
c.*896G>T (n.*896G>T)
c.745G>T (p.Glu249Ter)
c.853G>T (p.Glu285Ter)
c.808G>T (p.Glu270Ter)
17g.6425690C>GCA397394641AIPL1c.925G>C (p.Glu309Gln)
c.736G>C (p.Glu246Gln)
c.*797G>C (n.*797G>C)
c.859G>C (p.Glu287Gln)
c.251+8229G>C
c.889G>C (p.Glu297Gln)
c.*896G>C (n.*896G>C)
c.745G>C (p.Glu249Gln)
c.853G>C (p.Glu285Gln)
c.808G>C (p.Glu270Gln)
 gnomAD v4
17g.6425690C>TCA397394642AIPL1c.925G>A (p.Glu309Lys)
c.736G>A (p.Glu246Lys)
c.*797G>A (n.*797G>A)
c.859G>A (p.Glu287Lys)
c.251+8229G>A
c.889G>A (p.Glu297Lys)
c.*896G>A (n.*896G>A)
c.745G>A (p.Glu249Lys)
c.853G>A (p.Glu285Lys)
c.808G>A (p.Glu270Lys)
17g.6425691C>ACA497687466AIPL1c.924G>T (p.Leu308=)
c.735G>T (p.Leu245=)
c.*796G>T (n.*796G>T)
c.858G>T (p.Leu286=)
c.251+8228G>T
c.888G>T (p.Leu296=)
c.*895G>T (n.*895G>T)
c.744G>T (p.Leu248=)
c.852G>T (p.Leu284=)
c.807G>T (p.Leu269=)
17g.6425691C>GCA497687468AIPL1c.924G>C (p.Leu308=)
c.735G>C (p.Leu245=)
c.*796G>C (n.*796G>C)
c.858G>C (p.Leu286=)
c.251+8228G>C
c.888G>C (p.Leu296=)
c.*895G>C (n.*895G>C)
c.744G>C (p.Leu248=)
c.852G>C (p.Leu284=)
c.807G>C (p.Leu269=)
17g.6425691C>TCA497687470AIPL1c.924G>A (p.Leu308=)
c.735G>A (p.Leu245=)
c.*796G>A (n.*796G>A)
c.858G>A (p.Leu286=)
c.251+8228G>A
c.888G>A (p.Leu296=)
c.*895G>A (n.*895G>A)
c.744G>A (p.Leu248=)
c.852G>A (p.Leu284=)
c.807G>A (p.Leu269=)
 gnomAD v4
17g.6425692A=CA2245346957AIPL1c.923T= (p.Leu308=)
c.734T= (p.Leu245=)
c.*795T= (n.*795T=)
c.857T= (p.Leu286=)
c.251+8227T=
c.887T= (p.Leu296=)
c.*894T= (n.*894T=)
c.743T= (p.Leu248=)
c.851T= (p.Leu284=)
c.806T= (p.Leu269=)
17g.6425692A>CCA397394644AIPL1c.923T>G (p.Leu308Arg)
c.734T>G (p.Leu245Arg)
c.*795T>G (n.*795T>G)
c.857T>G (p.Leu286Arg)
c.251+8227T>G
c.887T>G (p.Leu296Arg)
c.*894T>G (n.*894T>G)
c.743T>G (p.Leu248Arg)
c.851T>G (p.Leu284Arg)
c.806T>G (p.Leu269Arg)
17g.6425692A>GCA397394645AIPL1c.923T>C (p.Leu308Pro)
c.734T>C (p.Leu245Pro)
c.*795T>C (n.*795T>C)
c.857T>C (p.Leu286Pro)
c.251+8227T>C
c.887T>C (p.Leu296Pro)
c.*894T>C (n.*894T>C)
c.743T>C (p.Leu248Pro)
c.851T>C (p.Leu284Pro)
c.806T>C (p.Leu269Pro)
 dbSNP gnomAD v2 gnomAD v4
17g.6425692A>TCA397394646AIPL1c.923T>A (p.Leu308Gln)
c.734T>A (p.Leu245Gln)
c.*795T>A (n.*795T>A)
c.857T>A (p.Leu286Gln)
c.251+8227T>A
c.887T>A (p.Leu296Gln)
c.*894T>A (n.*894T>A)
c.743T>A (p.Leu248Gln)
c.851T>A (p.Leu284Gln)
c.806T>A (p.Leu269Gln)
 dbSNP
17g.6425693G>ACA497687385AIPL1c.922C>T (p.Leu308=)
c.733C>T (p.Leu245=)
c.*794C>T (n.*794C>T)
c.856C>T (p.Leu286=)
c.251+8226C>T
c.886C>T (p.Leu296=)
c.*893C>T (n.*893C>T)
c.742C>T (p.Leu248=)
c.850C>T (p.Leu284=)
c.805C>T (p.Leu269=)
 gnomAD v4
17g.6425693G>CCA397394647AIPL1c.922C>G (p.Leu308Val)
c.733C>G (p.Leu245Val)
c.*794C>G (n.*794C>G)
c.856C>G (p.Leu286Val)
c.251+8226C>G
c.886C>G (p.Leu296Val)
c.*893C>G (n.*893C>G)
c.742C>G (p.Leu248Val)
c.850C>G (p.Leu284Val)
c.805C>G (p.Leu269Val)
17g.6425693G>TCA397394648AIPL1c.922C>A (p.Leu308Met)
c.733C>A (p.Leu245Met)
c.*794C>A (n.*794C>A)
c.856C>A (p.Leu286Met)
c.251+8226C>A
c.886C>A (p.Leu296Met)
c.*893C>A (n.*893C>A)
c.742C>A (p.Leu248Met)
c.850C>A (p.Leu284Met)
c.805C>A (p.Leu269Met)
 gnomAD v4
17g.6425694C>ACA497687387AIPL1c.921G>T (p.Leu307=)
c.732G>T (p.Leu244=)
c.*793G>T (n.*793G>T)
c.855G>T (p.Leu285=)
c.251+8225G>T
c.885G>T (p.Leu295=)
c.*892G>T (n.*892G>T)
c.741G>T (p.Leu247=)
c.849G>T (p.Leu283=)
c.804G>T (p.Leu268=)
17g.6425694C>GCA497687389AIPL1c.921G>C (p.Leu307=)
c.732G>C (p.Leu244=)
c.*793G>C (n.*793G>C)
c.855G>C (p.Leu285=)
c.251+8225G>C
c.885G>C (p.Leu295=)
c.*892G>C (n.*892G>C)
c.741G>C (p.Leu247=)
c.849G>C (p.Leu283=)
c.804G>C (p.Leu268=)
17g.6425694C>TCA497687390AIPL1c.921G>A (p.Leu307=)
c.732G>A (p.Leu244=)
c.*793G>A (n.*793G>A)
c.855G>A (p.Leu285=)
c.251+8225G>A
c.885G>A (p.Leu295=)
c.*892G>A (n.*892G>A)
c.741G>A (p.Leu247=)
c.849G>A (p.Leu283=)
c.804G>A (p.Leu268=)
17g.6425695A=CA2245346959AIPL1c.920T= (p.Leu307=)
c.731T= (p.Leu244=)
c.*792T= (n.*792T=)
c.854T= (p.Leu285=)
c.251+8224T=
c.884T= (p.Leu295=)
c.*891T= (n.*891T=)
c.740T= (p.Leu247=)
c.848T= (p.Leu283=)
c.803T= (p.Leu268=)
17g.6425695A>CCA397394651AIPL1c.920T>G (p.Leu307Arg)
c.731T>G (p.Leu244Arg)
c.*792T>G (n.*792T>G)
c.854T>G (p.Leu285Arg)
c.251+8224T>G
c.884T>G (p.Leu295Arg)
c.*891T>G (n.*891T>G)
c.740T>G (p.Leu247Arg)
c.848T>G (p.Leu283Arg)
c.803T>G (p.Leu268Arg)
17g.6425695A>GCA397394650AIPL1c.920T>C (p.Leu307Pro)
c.731T>C (p.Leu244Pro)
c.*792T>C (n.*792T>C)
c.854T>C (p.Leu285Pro)
c.251+8224T>C
c.884T>C (p.Leu295Pro)
c.*891T>C (n.*891T>C)
c.740T>C (p.Leu247Pro)
c.848T>C (p.Leu283Pro)
c.803T>C (p.Leu268Pro)
 ClinVar dbSNP gnomAD v2
17g.6425695A>TCA397394649AIPL1c.920T>A (p.Leu307Gln)
c.731T>A (p.Leu244Gln)
c.*792T>A (n.*792T>A)
c.854T>A (p.Leu285Gln)
c.251+8224T>A
c.884T>A (p.Leu295Gln)
c.*891T>A (n.*891T>A)
c.740T>A (p.Leu247Gln)
c.848T>A (p.Leu283Gln)
c.803T>A (p.Leu268Gln)
17g.6425696G>ACA497687392AIPL1c.919C>T (p.Leu307=)
c.730C>T (p.Leu244=)
c.*791C>T (n.*791C>T)
c.853C>T (p.Leu285=)
c.251+8223C>T
c.883C>T (p.Leu295=)
c.*890C>T (n.*890C>T)
c.739C>T (p.Leu247=)
c.847C>T (p.Leu283=)
c.802C>T (p.Leu268=)
17g.6425696G>CCA8328354AIPL1c.919C>G (p.Leu307Val)
c.730C>G (p.Leu244Val)
c.*791C>G (n.*791C>G)
c.853C>G (p.Leu285Val)
c.251+8223C>G
c.883C>G (p.Leu295Val)
c.*890C>G (n.*890C>G)
c.739C>G (p.Leu247Val)
c.847C>G (p.Leu283Val)
c.802C>G (p.Leu268Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425696G=CA2245346961AIPL1c.919C= (p.Leu307=)
c.730C= (p.Leu244=)
c.*791C= (n.*791C=)
c.853C= (p.Leu285=)
c.251+8223C=
c.883C= (p.Leu295=)
c.*890C= (n.*890C=)
c.739C= (p.Leu247=)
c.847C= (p.Leu283=)
c.802C= (p.Leu268=)
17g.6425696G>TCA397394652AIPL1c.919C>A (p.Leu307Met)
c.730C>A (p.Leu244Met)
c.*791C>A (n.*791C>A)
c.853C>A (p.Leu285Met)
c.251+8223C>A
c.883C>A (p.Leu295Met)
c.*890C>A (n.*890C>A)
c.739C>A (p.Leu247Met)
c.847C>A (p.Leu283Met)
c.802C>A (p.Leu268Met)
17g.6425697C>ACA397394653AIPL1c.918G>T (p.Arg306Ser)
c.729G>T (p.Arg243Ser)
c.*790G>T (n.*790G>T)
c.852G>T (p.Arg284Ser)
c.251+8222G>T
c.882G>T (p.Arg294Ser)
c.*889G>T (n.*889G>T)
c.738G>T (p.Arg246Ser)
c.846G>T (p.Arg282Ser)
c.801G>T (p.Arg267Ser)
17g.6425697C=CA2245346963AIPL1c.918G= (p.Arg306=)
c.729G= (p.Arg243=)
c.*790G= (n.*790G=)
c.852G= (p.Arg284=)
c.251+8222G=
c.882G= (p.Arg294=)
c.*889G= (n.*889G=)
c.738G= (p.Arg246=)
c.846G= (p.Arg282=)
c.801G= (p.Arg267=)
17g.6425697C>GCA287323864AIPL1c.918G>C (p.Arg306Ser)
c.729G>C (p.Arg243Ser)
c.*790G>C (n.*790G>C)
c.852G>C (p.Arg284Ser)
c.251+8222G>C
c.882G>C (p.Arg294Ser)
c.*889G>C (n.*889G>C)
c.738G>C (p.Arg246Ser)
c.846G>C (p.Arg282Ser)
c.801G>C (p.Arg267Ser)
 dbSNP
17g.6425697C>TCA497687393AIPL1c.918G>A (p.Arg306=)
c.729G>A (p.Arg243=)
c.*790G>A (n.*790G>A)
c.852G>A (p.Arg284=)
c.251+8222G>A
c.882G>A (p.Arg294=)
c.*889G>A (n.*889G>A)
c.738G>A (p.Arg246=)
c.846G>A (p.Arg282=)
c.801G>A (p.Arg267=)
17g.6425698C>ACA397394654AIPL1c.917G>T (p.Arg306Met)
c.728G>T (p.Arg243Met)
c.*789G>T (n.*789G>T)
c.851G>T (p.Arg284Met)
c.251+8221G>T
c.881G>T (p.Arg294Met)
c.*888G>T (n.*888G>T)
c.737G>T (p.Arg246Met)
c.845G>T (p.Arg282Met)
c.800G>T (p.Arg267Met)
17g.6425698C=CA2245346965AIPL1c.917G= (p.Arg306=)
c.728G= (p.Arg243=)
c.*789G= (n.*789G=)
c.851G= (p.Arg284=)
c.251+8221G=
c.881G= (p.Arg294=)
c.*888G= (n.*888G=)
c.737G= (p.Arg246=)
c.845G= (p.Arg282=)
c.800G= (p.Arg267=)
17g.6425698C>GCA397394655AIPL1c.917G>C (p.Arg306Thr)
c.728G>C (p.Arg243Thr)
c.*789G>C (n.*789G>C)
c.851G>C (p.Arg284Thr)
c.251+8221G>C
c.881G>C (p.Arg294Thr)
c.*888G>C (n.*888G>C)
c.737G>C (p.Arg246Thr)
c.845G>C (p.Arg282Thr)
c.800G>C (p.Arg267Thr)
 ClinVar dbSNP gnomAD v4
17g.6425698C>TCA397394656AIPL1c.917G>A (p.Arg306Lys)
c.728G>A (p.Arg243Lys)
c.*789G>A (n.*789G>A)
c.851G>A (p.Arg284Lys)
c.251+8221G>A
c.881G>A (p.Arg294Lys)
c.*888G>A (n.*888G>A)
c.737G>A (p.Arg246Lys)
c.845G>A (p.Arg282Lys)
c.800G>A (p.Arg267Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.6425699T>ACA397394657AIPL1c.916A>T (p.Arg306Trp)
c.727A>T (p.Arg243Trp)
c.*788A>T (n.*788A>T)
c.850A>T (p.Arg284Trp)
c.251+8220A>T
c.880A>T (p.Arg294Trp)
c.*887A>T (n.*887A>T)
c.736A>T (p.Arg246Trp)
c.844A>T (p.Arg282Trp)
c.799A>T (p.Arg267Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425699T>CCA287323866AIPL1c.916A>G (p.Arg306Gly)
c.727A>G (p.Arg243Gly)
c.*788A>G (n.*788A>G)
c.850A>G (p.Arg284Gly)
c.251+8220A>G
c.880A>G (p.Arg294Gly)
c.*887A>G (n.*887A>G)
c.736A>G (p.Arg246Gly)
c.844A>G (p.Arg282Gly)
c.799A>G (p.Arg267Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425699T>GCA497687395AIPL1c.916A>C (p.Arg306=)
c.727A>C (p.Arg243=)
c.*788A>C (n.*788A>C)
c.850A>C (p.Arg284=)
c.251+8220A>C
c.880A>C (p.Arg294=)
c.*887A>C (n.*887A>C)
c.736A>C (p.Arg246=)
c.844A>C (p.Arg282=)
c.799A>C (p.Arg267=)
17g.6425699T=CA2245346968AIPL1c.916A= (p.Arg306=)
c.727A= (p.Arg243=)
c.*788A= (n.*788A=)
c.850A= (p.Arg284=)
c.251+8220A=
c.880A= (p.Arg294=)
c.*887A= (n.*887A=)
c.736A= (p.Arg246=)
c.844A= (p.Arg282=)
c.799A= (p.Arg267=)
17g.6425700C>ACA497687396AIPL1c.915G>T (p.Leu305=)
c.726G>T (p.Leu242=)
c.*787G>T (n.*787G>T)
c.849G>T (p.Leu283=)
c.251+8219G>T
c.879G>T (p.Leu293=)
c.*886G>T (n.*886G>T)
c.735G>T (p.Leu245=)
c.843G>T (p.Leu281=)
c.798G>T (p.Leu266=)
17g.6425700C=CA2245346970AIPL1c.915G= (p.Leu305=)
c.726G= (p.Leu242=)
c.*787G= (n.*787G=)
c.849G= (p.Leu283=)
c.251+8219G=
c.879G= (p.Leu293=)
c.*886G= (n.*886G=)
c.735G= (p.Leu245=)
c.843G= (p.Leu281=)
c.798G= (p.Leu266=)
17g.6425700C>GCA8328355AIPL1c.915G>C (p.Leu305=)
c.726G>C (p.Leu242=)
c.*787G>C (n.*787G>C)
c.849G>C (p.Leu283=)
c.251+8219G>C
c.879G>C (p.Leu293=)
c.*886G>C (n.*886G>C)
c.735G>C (p.Leu245=)
c.843G>C (p.Leu281=)
c.798G>C (p.Leu266=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425700C>TCA497687397AIPL1c.915G>A (p.Leu305=)
c.726G>A (p.Leu242=)
c.*787G>A (n.*787G>A)
c.849G>A (p.Leu283=)
c.251+8219G>A
c.879G>A (p.Leu293=)
c.*886G>A (n.*886G>A)
c.735G>A (p.Leu245=)
c.843G>A (p.Leu281=)
c.798G>A (p.Leu266=)
17g.6425701A=CA2245346972AIPL1c.914T= (p.Leu305=)
c.725T= (p.Leu242=)
c.*786T= (n.*786T=)
c.848T= (p.Leu283=)
c.251+8218T=
c.878T= (p.Leu293=)
c.*885T= (n.*885T=)
c.734T= (p.Leu245=)
c.842T= (p.Leu281=)
c.797T= (p.Leu266=)
17g.6425701A>CCA397394658AIPL1c.914T>G (p.Leu305Arg)
c.725T>G (p.Leu242Arg)
c.*786T>G (n.*786T>G)
c.848T>G (p.Leu283Arg)
c.251+8218T>G
c.878T>G (p.Leu293Arg)
c.*885T>G (n.*885T>G)
c.734T>G (p.Leu245Arg)
c.842T>G (p.Leu281Arg)
c.797T>G (p.Leu266Arg)
17g.6425701A>GCA397394659AIPL1c.914T>C (p.Leu305Pro)
c.725T>C (p.Leu242Pro)
c.*786T>C (n.*786T>C)
c.848T>C (p.Leu283Pro)
c.251+8218T>C
c.878T>C (p.Leu293Pro)
c.*885T>C (n.*885T>C)
c.734T>C (p.Leu245Pro)
c.842T>C (p.Leu281Pro)
c.797T>C (p.Leu266Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.6425701A>TCA397394660AIPL1c.914T>A (p.Leu305Gln)
c.725T>A (p.Leu242Gln)
c.*786T>A (n.*786T>A)
c.848T>A (p.Leu283Gln)
c.251+8218T>A
c.878T>A (p.Leu293Gln)
c.*885T>A (n.*885T>A)
c.734T>A (p.Leu245Gln)
c.842T>A (p.Leu281Gln)
c.797T>A (p.Leu266Gln)
17g.6425702G>ACA497687400AIPL1c.913C>T (p.Leu305=)
c.724C>T (p.Leu242=)
c.*785C>T (n.*785C>T)
c.847C>T (p.Leu283=)
c.251+8217C>T
c.877C>T (p.Leu293=)
c.*884C>T (n.*884C>T)
c.733C>T (p.Leu245=)
c.841C>T (p.Leu281=)
c.796C>T (p.Leu266=)
 dbSNP
17g.6425702G>CCA397394661AIPL1c.913C>G (p.Leu305Val)
c.724C>G (p.Leu242Val)
c.*785C>G (n.*785C>G)
c.847C>G (p.Leu283Val)
c.251+8217C>G
c.877C>G (p.Leu293Val)
c.*884C>G (n.*884C>G)
c.733C>G (p.Leu245Val)
c.841C>G (p.Leu281Val)
c.796C>G (p.Leu266Val)
17g.6425702G=CA2245346974AIPL1c.913C= (p.Leu305=)
c.724C= (p.Leu242=)
c.*785C= (n.*785C=)
c.847C= (p.Leu283=)
c.251+8217C=
c.877C= (p.Leu293=)
c.*884C= (n.*884C=)
c.733C= (p.Leu245=)
c.841C= (p.Leu281=)
c.796C= (p.Leu266=)
17g.6425702G>TCA397394662AIPL1c.913C>A (p.Leu305Met)
c.724C>A (p.Leu242Met)
c.*785C>A (n.*785C>A)
c.847C>A (p.Leu283Met)
c.251+8217C>A
c.877C>A (p.Leu293Met)
c.*884C>A (n.*884C>A)
c.733C>A (p.Leu245Met)
c.841C>A (p.Leu281Met)
c.796C>A (p.Leu266Met)
 gnomAD v4
17g.6425703C>ACA397394663AIPL1c.912G>T (p.Glu304Asp)
c.723G>T (p.Glu241Asp)
c.*784G>T (n.*784G>T)
c.846G>T (p.Glu282Asp)
c.251+8216G>T
c.876G>T (p.Glu292Asp)
c.*883G>T (n.*883G>T)
c.732G>T (p.Glu244Asp)
c.840G>T (p.Glu280Asp)
c.795G>T (p.Glu265Asp)
17g.6425703C>GCA397394664AIPL1c.912G>C (p.Glu304Asp)
c.723G>C (p.Glu241Asp)
c.*784G>C (n.*784G>C)
c.846G>C (p.Glu282Asp)
c.251+8216G>C
c.876G>C (p.Glu292Asp)
c.*883G>C (n.*883G>C)
c.732G>C (p.Glu244Asp)
c.840G>C (p.Glu280Asp)
c.795G>C (p.Glu265Asp)
17g.6425703C>TCA497687401AIPL1c.912G>A (p.Glu304=)
c.723G>A (p.Glu241=)
c.*784G>A (n.*784G>A)
c.846G>A (p.Glu282=)
c.251+8216G>A
c.876G>A (p.Glu292=)
c.*883G>A (n.*883G>A)
c.732G>A (p.Glu244=)
c.840G>A (p.Glu280=)
c.795G>A (p.Glu265=)
17g.6425704T>ACA397394665AIPL1c.911A>T (p.Glu304Val)
c.722A>T (p.Glu241Val)
c.*783A>T (n.*783A>T)
c.845A>T (p.Glu282Val)
c.251+8215A>T
c.875A>T (p.Glu292Val)
c.*882A>T (n.*882A>T)
c.731A>T (p.Glu244Val)
c.839A>T (p.Glu280Val)
c.794A>T (p.Glu265Val)
 gnomAD v4
17g.6425704T>CCA397394666AIPL1c.911A>G (p.Glu304Gly)
c.722A>G (p.Glu241Gly)
c.*783A>G (n.*783A>G)
c.845A>G (p.Glu282Gly)
c.251+8215A>G
c.875A>G (p.Glu292Gly)
c.*882A>G (n.*882A>G)
c.731A>G (p.Glu244Gly)
c.839A>G (p.Glu280Gly)
c.794A>G (p.Glu265Gly)
17g.6425704T>GCA397394667AIPL1c.911A>C (p.Glu304Ala)
c.722A>C (p.Glu241Ala)
c.*783A>C (n.*783A>C)
c.845A>C (p.Glu282Ala)
c.251+8215A>C
c.875A>C (p.Glu292Ala)
c.*882A>C (n.*882A>C)
c.731A>C (p.Glu244Ala)
c.839A>C (p.Glu280Ala)
c.794A>C (p.Glu265Ala)
17g.6425705C>ACA8328357AIPL1c.910G>T (p.Glu304Ter)
c.721G>T (p.Glu241Ter)
c.*782G>T (n.*782G>T)
c.844G>T (p.Glu282Ter)
c.251+8214G>T
c.874G>T (p.Glu292Ter)
c.*881G>T (n.*881G>T)
c.730G>T (p.Glu244Ter)
c.838G>T (p.Glu280Ter)
c.793G>T (p.Glu265Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425705C=CA2245346976AIPL1c.910G= (p.Glu304=)
c.721G= (p.Glu241=)
c.*782G= (n.*782G=)
c.844G= (p.Glu282=)
c.251+8214G=
c.874G= (p.Glu292=)
c.*881G= (n.*881G=)
c.730G= (p.Glu244=)
c.838G= (p.Glu280=)
c.793G= (p.Glu265=)
17g.6425705C>GCA8328356AIPL1c.910G>C (p.Glu304Gln)
c.721G>C (p.Glu241Gln)
c.*782G>C (n.*782G>C)
c.844G>C (p.Glu282Gln)
c.251+8214G>C
c.874G>C (p.Glu292Gln)
c.*881G>C (n.*881G>C)
c.730G>C (p.Glu244Gln)
c.838G>C (p.Glu280Gln)
c.793G>C (p.Glu265Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425705C>TCA397394668AIPL1c.910G>A (p.Glu304Lys)
c.721G>A (p.Glu241Lys)
c.*782G>A (n.*782G>A)
c.844G>A (p.Glu282Lys)
c.251+8214G>A
c.874G>A (p.Glu292Lys)
c.*881G>A (n.*881G>A)
c.730G>A (p.Glu244Lys)
c.838G>A (p.Glu280Lys)
c.793G>A (p.Glu265Lys)
 gnomAD v4 COSMIC
17g.6425706C>ACA397394669AIPL1c.909G>T (p.Arg303Ser)
c.720G>T (p.Arg240Ser)
c.*781G>T (n.*781G>T)
c.843G>T (p.Arg281Ser)
c.251+8213G>T
c.873G>T (p.Arg291Ser)
c.*880G>T (n.*880G>T)
c.729G>T (p.Arg243Ser)
c.837G>T (p.Arg279Ser)
c.792G>T (p.Arg264Ser)
17g.6425706C>GCA397394670AIPL1c.909G>C (p.Arg303Ser)
c.720G>C (p.Arg240Ser)
c.*781G>C (n.*781G>C)
c.843G>C (p.Arg281Ser)
c.251+8213G>C
c.873G>C (p.Arg291Ser)
c.*880G>C (n.*880G>C)
c.729G>C (p.Arg243Ser)
c.837G>C (p.Arg279Ser)
c.792G>C (p.Arg264Ser)
17g.6425706C>TCA497687405AIPL1c.909G>A (p.Arg303=)
c.720G>A (p.Arg240=)
c.*781G>A (n.*781G>A)
c.843G>A (p.Arg281=)
c.251+8213G>A
c.873G>A (p.Arg291=)
c.*880G>A (n.*880G>A)
c.729G>A (p.Arg243=)
c.837G>A (p.Arg279=)
c.792G>A (p.Arg264=)
 gnomAD v4
17g.6425707C>ACA397394671AIPL1c.908G>T (p.Arg303Met)
c.719G>T (p.Arg240Met)
c.*780G>T (n.*780G>T)
c.842G>T (p.Arg281Met)
c.251+8212G>T
c.872G>T (p.Arg291Met)
c.*879G>T (n.*879G>T)
c.728G>T (p.Arg243Met)
c.836G>T (p.Arg279Met)
c.791G>T (p.Arg264Met)
17g.6425707C=CA2245346978AIPL1c.908G= (p.Arg303=)
c.719G= (p.Arg240=)
c.*780G= (n.*780G=)
c.842G= (p.Arg281=)
c.251+8212G=
c.872G= (p.Arg291=)
c.*879G= (n.*879G=)
c.728G= (p.Arg243=)
c.836G= (p.Arg279=)
c.791G= (p.Arg264=)
17g.6425707C>GCA397394672AIPL1c.908G>C (p.Arg303Thr)
c.719G>C (p.Arg240Thr)
c.*780G>C (n.*780G>C)
c.842G>C (p.Arg281Thr)
c.251+8212G>C
c.872G>C (p.Arg291Thr)
c.*879G>C (n.*879G>C)
c.728G>C (p.Arg243Thr)
c.836G>C (p.Arg279Thr)
c.791G>C (p.Arg264Thr)
17g.6425707C>TCA8328358AIPL1c.908G>A (p.Arg303Lys)
c.719G>A (p.Arg240Lys)
c.*780G>A (n.*780G>A)
c.842G>A (p.Arg281Lys)
c.251+8212G>A
c.872G>A (p.Arg291Lys)
c.*879G>A (n.*879G>A)
c.728G>A (p.Arg243Lys)
c.836G>A (p.Arg279Lys)
c.791G>A (p.Arg264Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425708T>ACA397394673AIPL1c.907A>T (p.Arg303Trp)
c.718A>T (p.Arg240Trp)
c.*779A>T (n.*779A>T)
c.841A>T (p.Arg281Trp)
c.251+8211A>T
c.871A>T (p.Arg291Trp)
c.*878A>T (n.*878A>T)
c.727A>T (p.Arg243Trp)
c.835A>T (p.Arg279Trp)
c.790A>T (p.Arg264Trp)
17g.6425708T>CCA397394674AIPL1c.907A>G (p.Arg303Gly)
c.718A>G (p.Arg240Gly)
c.*779A>G (n.*779A>G)
c.841A>G (p.Arg281Gly)
c.251+8211A>G
c.871A>G (p.Arg291Gly)
c.*878A>G (n.*878A>G)
c.727A>G (p.Arg243Gly)
c.835A>G (p.Arg279Gly)
c.790A>G (p.Arg264Gly)
17g.6425708T>GCA497687407AIPL1c.907A>C (p.Arg303=)
c.718A>C (p.Arg240=)
c.*779A>C (n.*779A>C)
c.841A>C (p.Arg281=)
c.251+8211A>C
c.871A>C (p.Arg291=)
c.*878A>C (n.*878A>C)
c.727A>C (p.Arg243=)
c.835A>C (p.Arg279=)
c.790A>C (p.Arg264=)
 gnomAD v4
17g.6425709G>ACA497687410AIPL1c.906C>T (p.Arg302=)
c.717C>T (p.Arg239=)
c.*778C>T (n.*778C>T)
c.840C>T (p.Arg280=)
c.251+8210C>T
c.870C>T (p.Arg290=)
c.*877C>T (n.*877C>T)
c.726C>T (p.Arg242=)
c.834C>T (p.Arg278=)
c.789C>T (p.Arg263=)
 gnomAD v4
17g.6425709G>CCA497687412AIPL1c.906C>G (p.Arg302=)
c.717C>G (p.Arg239=)
c.*778C>G (n.*778C>G)
c.840C>G (p.Arg280=)
c.251+8210C>G
c.870C>G (p.Arg290=)
c.*877C>G (n.*877C>G)
c.726C>G (p.Arg242=)
c.834C>G (p.Arg278=)
c.789C>G (p.Arg263=)
17g.6425709G>TCA497687411AIPL1c.906C>A (p.Arg302=)
c.717C>A (p.Arg239=)
c.*778C>A (n.*778C>A)
c.840C>A (p.Arg280=)
c.251+8210C>A
c.870C>A (p.Arg290=)
c.*877C>A (n.*877C>A)
c.726C>A (p.Arg242=)
c.834C>A (p.Arg278=)
c.789C>A (p.Arg263=)
 gnomAD v4
17g.6425710C>ACA203310AIPL1c.905G>T (p.Arg302Leu)
c.716G>T (p.Arg239Leu)
c.*777G>T (n.*777G>T)
c.839G>T (p.Arg280Leu)
c.251+8209G>T
c.869G>T (p.Arg290Leu)
c.*876G>T (n.*876G>T)
c.725G>T (p.Arg242Leu)
c.833G>T (p.Arg278Leu)
c.788G>T (p.Arg263Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425710C=CA2245346981AIPL1c.905G= (p.Arg302=)
c.716G= (p.Arg239=)
c.*777G= (n.*777G=)
c.839G= (p.Arg280=)
c.251+8209G=
c.869G= (p.Arg290=)
c.*876G= (n.*876G=)
c.725G= (p.Arg242=)
c.833G= (p.Arg278=)
c.788G= (p.Arg263=)
17g.6425710C>GCA397394675AIPL1c.905G>C (p.Arg302Pro)
c.716G>C (p.Arg239Pro)
c.*777G>C (n.*777G>C)
c.839G>C (p.Arg280Pro)
c.251+8209G>C
c.869G>C (p.Arg290Pro)
c.*876G>C (n.*876G>C)
c.725G>C (p.Arg242Pro)
c.833G>C (p.Arg278Pro)
c.788G>C (p.Arg263Pro)
17g.6425710C>TCA8328359AIPL1c.905G>A (p.Arg302His)
c.716G>A (p.Arg239His)
c.*777G>A (n.*777G>A)
c.839G>A (p.Arg280His)
c.251+8209G>A
c.869G>A (p.Arg290His)
c.*876G>A (n.*876G>A)
c.725G>A (p.Arg242His)
c.833G>A (p.Arg278His)
c.788G>A (p.Arg263His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.6425711G>ACA397394676AIPL1c.904C>T (p.Arg302Cys)
c.715C>T (p.Arg239Cys)
c.*776C>T (n.*776C>T)
c.838C>T (p.Arg280Cys)
c.251+8208C>T
c.868C>T (p.Arg290Cys)
c.*875C>T (n.*875C>T)
c.724C>T (p.Arg242Cys)
c.832C>T (p.Arg278Cys)
c.787C>T (p.Arg263Cys)
 dbSNP gnomAD v4
17g.6425711G>CCA397394677AIPL1c.904C>G (p.Arg302Gly)
c.715C>G (p.Arg239Gly)
c.*776C>G (n.*776C>G)
c.838C>G (p.Arg280Gly)
c.251+8208C>G
c.868C>G (p.Arg290Gly)
c.*875C>G (n.*875C>G)
c.724C>G (p.Arg242Gly)
c.832C>G (p.Arg278Gly)
c.787C>G (p.Arg263Gly)
17g.6425711G>TCA397394678AIPL1c.904C>A (p.Arg302Ser)
c.715C>A (p.Arg239Ser)
c.*776C>A (n.*776C>A)
c.838C>A (p.Arg280Ser)
c.251+8208C>A
c.868C>A (p.Arg290Ser)
c.*875C>A (n.*875C>A)
c.724C>A (p.Arg242Ser)
c.832C>A (p.Arg278Ser)
c.787C>A (p.Arg263Ser)
 dbSNP gnomAD v4
17g.6425712C>ACA497687413AIPL1c.903G>T (p.Val301=)
c.714G>T (p.Val238=)
c.*775G>T (n.*775G>T)
c.837G>T (p.Val279=)
c.251+8207G>T
c.867G>T (p.Val289=)
c.*874G>T (n.*874G>T)
c.723G>T (p.Val241=)
c.831G>T (p.Val277=)
c.786G>T (p.Val262=)
17g.6425712C=CA2245346984AIPL1c.903G= (p.Val301=)
c.714G= (p.Val238=)
c.*775G= (n.*775G=)
c.837G= (p.Val279=)
c.251+8207G=
c.867G= (p.Val289=)
c.*874G= (n.*874G=)
c.723G= (p.Val241=)
c.831G= (p.Val277=)
c.786G= (p.Val262=)
17g.6425712C>GCA497687415AIPL1c.903G>C (p.Val301=)
c.714G>C (p.Val238=)
c.*775G>C (n.*775G>C)
c.837G>C (p.Val279=)
c.251+8207G>C
c.867G>C (p.Val289=)
c.*874G>C (n.*874G>C)
c.723G>C (p.Val241=)
c.831G>C (p.Val277=)
c.786G>C (p.Val262=)
17g.6425712C>TCA8328360AIPL1c.903G>A (p.Val301=)
c.714G>A (p.Val238=)
c.*775G>A (n.*775G>A)
c.837G>A (p.Val279=)
c.251+8207G>A
c.867G>A (p.Val289=)
c.*874G>A (n.*874G>A)
c.723G>A (p.Val241=)
c.831G>A (p.Val277=)
c.786G>A (p.Val262=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425713A>CCA397394679AIPL1c.902T>G (p.Val301Gly)
c.713T>G (p.Val238Gly)
c.*774T>G (n.*774T>G)
c.836T>G (p.Val279Gly)
c.251+8206T>G
c.866T>G (p.Val289Gly)
c.*873T>G (n.*873T>G)
c.722T>G (p.Val241Gly)
c.830T>G (p.Val277Gly)
c.785T>G (p.Val262Gly)
17g.6425713A>GCA397394680AIPL1c.902T>C (p.Val301Ala)
c.713T>C (p.Val238Ala)
c.*774T>C (n.*774T>C)
c.836T>C (p.Val279Ala)
c.251+8206T>C
c.866T>C (p.Val289Ala)
c.*873T>C (n.*873T>C)
c.722T>C (p.Val241Ala)
c.830T>C (p.Val277Ala)
c.785T>C (p.Val262Ala)
17g.6425713A>TCA397394681AIPL1c.902T>A (p.Val301Glu)
c.713T>A (p.Val238Glu)
c.*774T>A (n.*774T>A)
c.836T>A (p.Val279Glu)
c.251+8206T>A
c.866T>A (p.Val289Glu)
c.*873T>A (n.*873T>A)
c.722T>A (p.Val241Glu)
c.830T>A (p.Val277Glu)
c.785T>A (p.Val262Glu)
17g.6425714C>ACA397394682AIPL1c.901G>T (p.Val301Leu)
c.712G>T (p.Val238Leu)
c.*773G>T (n.*773G>T)
c.835G>T (p.Val279Leu)
c.251+8205G>T
c.865G>T (p.Val289Leu)
c.*872G>T (n.*872G>T)
c.721G>T (p.Val241Leu)
c.829G>T (p.Val277Leu)
c.784G>T (p.Val262Leu)
 COSMIC
17g.6425714C>GCA397394683AIPL1c.901G>C (p.Val301Leu)
c.712G>C (p.Val238Leu)
c.*773G>C (n.*773G>C)
c.835G>C (p.Val279Leu)
c.251+8205G>C
c.865G>C (p.Val289Leu)
c.*872G>C (n.*872G>C)
c.721G>C (p.Val241Leu)
c.829G>C (p.Val277Leu)
c.784G>C (p.Val262Leu)
17g.6425714C>TCA397394684AIPL1c.901G>A (p.Val301Met)
c.712G>A (p.Val238Met)
c.*773G>A (n.*773G>A)
c.835G>A (p.Val279Met)
c.251+8205G>A
c.865G>A (p.Val289Met)
c.*872G>A (n.*872G>A)
c.721G>A (p.Val241Met)
c.829G>A (p.Val277Met)
c.784G>A (p.Val262Met)
17g.6425715C>ACA497687416AIPL1c.900G>T (p.Ala300=)
c.711G>T (p.Ala237=)
c.*772G>T (n.*772G>T)
c.834G>T (p.Ala278=)
c.251+8204G>T
c.864G>T (p.Ala288=)
c.*871G>T (n.*871G>T)
c.720G>T (p.Ala240=)
c.828G>T (p.Ala276=)
c.783G>T (p.Ala261=)
 gnomAD v4
17g.6425715C=CA2245346988AIPL1c.900G= (p.Ala300=)
c.711G= (p.Ala237=)
c.*772G= (n.*772G=)
c.834G= (p.Ala278=)
c.251+8204G=
c.864G= (p.Ala288=)
c.*871G= (n.*871G=)
c.720G= (p.Ala240=)
c.828G= (p.Ala276=)
c.783G= (p.Ala261=)
17g.6425715C>GCA8328362AIPL1c.900G>C (p.Ala300=)
c.711G>C (p.Ala237=)
c.*772G>C (n.*772G>C)
c.834G>C (p.Ala278=)
c.251+8204G>C
c.864G>C (p.Ala288=)
c.*871G>C (n.*871G>C)
c.720G>C (p.Ala240=)
c.828G>C (p.Ala276=)
c.783G>C (p.Ala261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425715C>TCA8328361AIPL1c.900G>A (p.Ala300=)
c.711G>A (p.Ala237=)
c.*772G>A (n.*772G>A)
c.834G>A (p.Ala278=)
c.251+8204G>A
c.864G>A (p.Ala288=)
c.*871G>A (n.*871G>A)
c.720G>A (p.Ala240=)
c.828G>A (p.Ala276=)
c.783G>A (p.Ala261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425716G>ACA397394687AIPL1c.899C>T (p.Ala300Val)
c.710C>T (p.Ala237Val)
c.*771C>T (n.*771C>T)
c.833C>T (p.Ala278Val)
c.251+8203C>T
c.863C>T (p.Ala288Val)
c.*870C>T (n.*870C>T)
c.719C>T (p.Ala240Val)
c.827C>T (p.Ala276Val)
c.782C>T (p.Ala261Val)
 dbSNP gnomAD v3 gnomAD v4
17g.6425716G>CCA397394685AIPL1c.899C>G (p.Ala300Gly)
c.710C>G (p.Ala237Gly)
c.*771C>G (n.*771C>G)
c.833C>G (p.Ala278Gly)
c.251+8203C>G
c.863C>G (p.Ala288Gly)
c.*870C>G (n.*870C>G)
c.719C>G (p.Ala240Gly)
c.827C>G (p.Ala276Gly)
c.782C>G (p.Ala261Gly)
17g.6425716G=CA2245346991AIPL1c.899C= (p.Ala300=)
c.710C= (p.Ala237=)
c.*771C= (n.*771C=)
c.833C= (p.Ala278=)
c.251+8203C=
c.863C= (p.Ala288=)
c.*870C= (n.*870C=)
c.719C= (p.Ala240=)
c.827C= (p.Ala276=)
c.782C= (p.Ala261=)
17g.6425716G>TCA397394686AIPL1c.899C>A (p.Ala300Glu)
c.710C>A (p.Ala237Glu)
c.*771C>A (n.*771C>A)
c.833C>A (p.Ala278Glu)
c.251+8203C>A
c.863C>A (p.Ala288Glu)
c.*870C>A (n.*870C>A)
c.719C>A (p.Ala240Glu)
c.827C>A (p.Ala276Glu)
c.782C>A (p.Ala261Glu)
 gnomAD v4
17g.6425717C>ACA397394688AIPL1c.898G>T (p.Ala300Ser)
c.709G>T (p.Ala237Ser)
c.*770G>T (n.*770G>T)
c.832G>T (p.Ala278Ser)
c.251+8202G>T
c.862G>T (p.Ala288Ser)
c.*869G>T (n.*869G>T)
c.718G>T (p.Ala240Ser)
c.826G>T (p.Ala276Ser)
c.781G>T (p.Ala261Ser)
17g.6425717C>GCA397394689AIPL1c.898G>C (p.Ala300Pro)
c.709G>C (p.Ala237Pro)
c.*770G>C (n.*770G>C)
c.832G>C (p.Ala278Pro)
c.251+8202G>C
c.862G>C (p.Ala288Pro)
c.*869G>C (n.*869G>C)
c.718G>C (p.Ala240Pro)
c.826G>C (p.Ala276Pro)
c.781G>C (p.Ala261Pro)
17g.6425717C>TCA397394690AIPL1c.898G>A (p.Ala300Thr)
c.709G>A (p.Ala237Thr)
c.*770G>A (n.*770G>A)
c.832G>A (p.Ala278Thr)
c.251+8202G>A
c.862G>A (p.Ala288Thr)
c.*869G>A (n.*869G>A)
c.718G>A (p.Ala240Thr)
c.826G>A (p.Ala276Thr)
c.781G>A (p.Ala261Thr)
17g.6425718C>ACA397394691AIPL1c.897G>T (p.Lys299Asn)
c.708G>T (p.Lys236Asn)
c.*769G>T (n.*769G>T)
c.831G>T (p.Lys277Asn)
c.251+8201G>T
c.861G>T (p.Lys287Asn)
c.*868G>T (n.*868G>T)
c.717G>T (p.Lys239Asn)
c.825G>T (p.Lys275Asn)
c.780G>T (p.Lys260Asn)
 dbSNP
17g.6425718C=CA2245346993AIPL1c.897G= (p.Lys299=)
c.708G= (p.Lys236=)
c.*769G= (n.*769G=)
c.831G= (p.Lys277=)
c.251+8201G=
c.861G= (p.Lys287=)
c.*868G= (n.*868G=)
c.717G= (p.Lys239=)
c.825G= (p.Lys275=)
c.780G= (p.Lys260=)
17g.6425718C>GCA397394692AIPL1c.897G>C (p.Lys299Asn)
c.708G>C (p.Lys236Asn)
c.*769G>C (n.*769G>C)
c.831G>C (p.Lys277Asn)
c.251+8201G>C
c.861G>C (p.Lys287Asn)
c.*868G>C (n.*868G>C)
c.717G>C (p.Lys239Asn)
c.825G>C (p.Lys275Asn)
c.780G>C (p.Lys260Asn)
 gnomAD v4
17g.6425718C>TCA8328363AIPL1c.897G>A (p.Lys299=)
c.708G>A (p.Lys236=)
c.*769G>A (n.*769G>A)
c.831G>A (p.Lys277=)
c.251+8201G>A
c.861G>A (p.Lys287=)
c.*868G>A (n.*868G>A)
c.717G>A (p.Lys239=)
c.825G>A (p.Lys275=)
c.780G>A (p.Lys260=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425719T>ACA397394693AIPL1c.896A>T (p.Lys299Met)
c.707A>T (p.Lys236Met)
c.*768A>T (n.*768A>T)
c.830A>T (p.Lys277Met)
c.251+8200A>T
c.860A>T (p.Lys287Met)
c.*867A>T (n.*867A>T)
c.716A>T (p.Lys239Met)
c.824A>T (p.Lys275Met)
c.779A>T (p.Lys260Met)
17g.6425719T>CCA397394694AIPL1c.896A>G (p.Lys299Arg)
c.707A>G (p.Lys236Arg)
c.*768A>G (n.*768A>G)
c.830A>G (p.Lys277Arg)
c.251+8200A>G
c.860A>G (p.Lys287Arg)
c.*867A>G (n.*867A>G)
c.716A>G (p.Lys239Arg)
c.824A>G (p.Lys275Arg)
c.779A>G (p.Lys260Arg)
17g.6425719T>GCA397394695AIPL1c.896A>C (p.Lys299Thr)
c.707A>C (p.Lys236Thr)
c.*768A>C (n.*768A>C)
c.830A>C (p.Lys277Thr)
c.251+8200A>C
c.860A>C (p.Lys287Thr)
c.*867A>C (n.*867A>C)
c.716A>C (p.Lys239Thr)
c.824A>C (p.Lys275Thr)
c.779A>C (p.Lys260Thr)
17g.6425720T>ACA397394696AIPL1c.895A>T (p.Lys299Ter)
c.706A>T (p.Lys236Ter)
c.*767A>T (n.*767A>T)
c.829A>T (p.Lys277Ter)
c.251+8199A>T
c.859A>T (p.Lys287Ter)
c.*866A>T (n.*866A>T)
c.715A>T (p.Lys239Ter)
c.823A>T (p.Lys275Ter)
c.778A>T (p.Lys260Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.6425720T>CCA397394697AIPL1c.895A>G (p.Lys299Glu)
c.706A>G (p.Lys236Glu)
c.*767A>G (n.*767A>G)
c.829A>G (p.Lys277Glu)
c.251+8199A>G
c.859A>G (p.Lys287Glu)
c.*866A>G (n.*866A>G)
c.715A>G (p.Lys239Glu)
c.823A>G (p.Lys275Glu)
c.778A>G (p.Lys260Glu)
 gnomAD v4
17g.6425720T>GCA397394698AIPL1c.895A>C (p.Lys299Gln)
c.706A>C (p.Lys236Gln)
c.*767A>C (n.*767A>C)
c.829A>C (p.Lys277Gln)
c.251+8199A>C
c.859A>C (p.Lys287Gln)
c.*866A>C (n.*866A>C)
c.715A>C (p.Lys239Gln)
c.823A>C (p.Lys275Gln)
c.778A>C (p.Lys260Gln)
17g.6425720T=CA2245346995AIPL1c.895A= (p.Lys299=)
c.706A= (p.Lys236=)
c.*767A= (n.*767A=)
c.829A= (p.Lys277=)
c.251+8199A=
c.859A= (p.Lys287=)
c.*866A= (n.*866A=)
c.715A= (p.Lys239=)
c.823A= (p.Lys275=)
c.778A= (p.Lys260=)
17g.6425721C>ACA397394699AIPL1c.894G>T (p.Gln298His)
c.705G>T (p.Gln235His)
c.*766G>T (n.*766G>T)
c.828G>T (p.Gln276His)
c.251+8198G>T
c.858G>T (p.Gln286His)
c.*865G>T (n.*865G>T)
c.714G>T (p.Gln238His)
c.822G>T (p.Gln274His)
c.777G>T (p.Gln259His)
17g.6425721C>GCA397394700AIPL1c.894G>C (p.Gln298His)
c.705G>C (p.Gln235His)
c.*766G>C (n.*766G>C)
c.828G>C (p.Gln276His)
c.251+8198G>C
c.858G>C (p.Gln286His)
c.*865G>C (n.*865G>C)
c.714G>C (p.Gln238His)
c.822G>C (p.Gln274His)
c.777G>C (p.Gln259His)
17g.6425721C>TCA497687419AIPL1c.894G>A (p.Gln298=)
c.705G>A (p.Gln235=)
c.*766G>A (n.*766G>A)
c.828G>A (p.Gln276=)
c.251+8198G>A
c.858G>A (p.Gln286=)
c.*865G>A (n.*865G>A)
c.714G>A (p.Gln238=)
c.822G>A (p.Gln274=)
c.777G>A (p.Gln259=)
 gnomAD v4
17g.6425722T>ACA397394701AIPL1c.893A>T (p.Gln298Leu)
c.704A>T (p.Gln235Leu)
c.*765A>T (n.*765A>T)
c.827A>T (p.Gln276Leu)
c.251+8197A>T
c.857A>T (p.Gln286Leu)
c.*864A>T (n.*864A>T)
c.713A>T (p.Gln238Leu)
c.821A>T (p.Gln274Leu)
c.776A>T (p.Gln259Leu)
17g.6425722T>CCA397394703AIPL1c.893A>G (p.Gln298Arg)
c.704A>G (p.Gln235Arg)
c.*765A>G (n.*765A>G)
c.827A>G (p.Gln276Arg)
c.251+8197A>G
c.857A>G (p.Gln286Arg)
c.*864A>G (n.*864A>G)
c.713A>G (p.Gln238Arg)
c.821A>G (p.Gln274Arg)
c.776A>G (p.Gln259Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.6425722T>GCA397394702AIPL1c.893A>C (p.Gln298Pro)
c.704A>C (p.Gln235Pro)
c.*765A>C (n.*765A>C)
c.827A>C (p.Gln276Pro)
c.251+8197A>C
c.857A>C (p.Gln286Pro)
c.*864A>C (n.*864A>C)
c.713A>C (p.Gln238Pro)
c.821A>C (p.Gln274Pro)
c.776A>C (p.Gln259Pro)
 dbSNP gnomAD v4
17g.6425722T=CA2245346997AIPL1c.893A= (p.Gln298=)
c.704A= (p.Gln235=)
c.*765A= (n.*765A=)
c.827A= (p.Gln276=)
c.251+8197A=
c.857A= (p.Gln286=)
c.*864A= (n.*864A=)
c.713A= (p.Gln238=)
c.821A= (p.Gln274=)
c.776A= (p.Gln259=)
17g.6425723G>ACA397394704AIPL1c.892C>T (p.Gln298Ter)
c.703C>T (p.Gln235Ter)
c.*764C>T (n.*764C>T)
c.826C>T (p.Gln276Ter)
c.251+8196C>T
c.856C>T (p.Gln286Ter)
c.*863C>T (n.*863C>T)
c.712C>T (p.Gln238Ter)
c.820C>T (p.Gln274Ter)
c.775C>T (p.Gln259Ter)
 gnomAD v4
17g.6425723G>CCA397394706AIPL1c.892C>G (p.Gln298Glu)
c.703C>G (p.Gln235Glu)
c.*764C>G (n.*764C>G)
c.826C>G (p.Gln276Glu)
c.251+8196C>G
c.856C>G (p.Gln286Glu)
c.*863C>G (n.*863C>G)
c.712C>G (p.Gln238Glu)
c.820C>G (p.Gln274Glu)
c.775C>G (p.Gln259Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.6425723G=CA2245347000AIPL1c.892C= (p.Gln298=)
c.703C= (p.Gln235=)
c.*764C= (n.*764C=)
c.826C= (p.Gln276=)
c.251+8196C=
c.856C= (p.Gln286=)
c.*863C= (n.*863C=)
c.712C= (p.Gln238=)
c.820C= (p.Gln274=)
c.775C= (p.Gln259=)
17g.6425723G>TCA397394705AIPL1c.892C>A (p.Gln298Lys)
c.703C>A (p.Gln235Lys)
c.*764C>A (n.*764C>A)
c.826C>A (p.Gln276Lys)
c.251+8196C>A
c.856C>A (p.Gln286Lys)
c.*863C>A (n.*863C>A)
c.712C>A (p.Gln238Lys)
c.820C>A (p.Gln274Lys)
c.775C>A (p.Gln259Lys)
 dbSNP gnomAD v4
17g.6425724C>ACA397394707AIPL1c.891G>T (p.Met297Ile)
c.702G>T (p.Met234Ile)
c.*763G>T (n.*763G>T)
c.825G>T (p.Met275Ile)
c.251+8195G>T
c.855G>T (p.Met285Ile)
c.*862G>T (n.*862G>T)
c.711G>T (p.Met237Ile)
c.819G>T (p.Met273Ile)
c.774G>T (p.Met258Ile)
 gnomAD v4
17g.6425724C>GCA397394709AIPL1c.891G>C (p.Met297Ile)
c.702G>C (p.Met234Ile)
c.*763G>C (n.*763G>C)
c.825G>C (p.Met275Ile)
c.251+8195G>C
c.855G>C (p.Met285Ile)
c.*862G>C (n.*862G>C)
c.711G>C (p.Met237Ile)
c.819G>C (p.Met273Ile)
c.774G>C (p.Met258Ile)
17g.6425724C>TCA397394708AIPL1c.891G>A (p.Met297Ile)
c.702G>A (p.Met234Ile)
c.*763G>A (n.*763G>A)
c.825G>A (p.Met275Ile)
c.251+8195G>A
c.855G>A (p.Met285Ile)
c.*862G>A (n.*862G>A)
c.711G>A (p.Met237Ile)
c.819G>A (p.Met273Ile)
c.774G>A (p.Met258Ile)
17g.6425725A>CCA397394710AIPL1c.890T>G (p.Met297Arg)
c.701T>G (p.Met234Arg)
c.*762T>G (n.*762T>G)
c.824T>G (p.Met275Arg)
c.251+8194T>G
c.854T>G (p.Met285Arg)
c.*861T>G (n.*861T>G)
c.710T>G (p.Met237Arg)
c.818T>G (p.Met273Arg)
c.773T>G (p.Met258Arg)
17g.6425725A>GCA397394712AIPL1c.890T>C (p.Met297Thr)
c.701T>C (p.Met234Thr)
c.*762T>C (n.*762T>C)
c.824T>C (p.Met275Thr)
c.251+8194T>C
c.854T>C (p.Met285Thr)
c.*861T>C (n.*861T>C)
c.710T>C (p.Met237Thr)
c.818T>C (p.Met273Thr)
c.773T>C (p.Met258Thr)
17g.6425725A>TCA397394711AIPL1c.890T>A (p.Met297Lys)
c.701T>A (p.Met234Lys)
c.*762T>A (n.*762T>A)
c.824T>A (p.Met275Lys)
c.251+8194T>A
c.854T>A (p.Met285Lys)
c.*861T>A (n.*861T>A)
c.710T>A (p.Met237Lys)
c.818T>A (p.Met273Lys)
c.773T>A (p.Met258Lys)
17g.6425726T>ACA397394713AIPL1c.889A>T (p.Met297Leu)
c.700A>T (p.Met234Leu)
c.*761A>T (n.*761A>T)
c.823A>T (p.Met275Leu)
c.251+8193A>T
c.853A>T (p.Met285Leu)
c.*860A>T (n.*860A>T)
c.709A>T (p.Met237Leu)
c.817A>T (p.Met273Leu)
c.772A>T (p.Met258Leu)
17g.6425726T>CCA397394714AIPL1c.889A>G (p.Met297Val)
c.700A>G (p.Met234Val)
c.*761A>G (n.*761A>G)
c.823A>G (p.Met275Val)
c.251+8193A>G
c.853A>G (p.Met285Val)
c.*860A>G (n.*860A>G)
c.709A>G (p.Met237Val)
c.817A>G (p.Met273Val)
c.772A>G (p.Met258Val)
 dbSNP gnomAD v4
17g.6425726T>GCA397394715AIPL1c.889A>C (p.Met297Leu)
c.700A>C (p.Met234Leu)
c.*761A>C (n.*761A>C)
c.823A>C (p.Met275Leu)
c.251+8193A>C
c.853A>C (p.Met285Leu)
c.*860A>C (n.*860A>C)
c.709A>C (p.Met237Leu)
c.817A>C (p.Met273Leu)
c.772A>C (p.Met258Leu)
17g.6425726T=CA2245347002AIPL1c.889A= (p.Met297=)
c.700A= (p.Met234=)
c.*761A= (n.*761A=)
c.823A= (p.Met275=)
c.251+8193A=
c.853A= (p.Met285=)
c.*860A= (n.*860A=)
c.709A= (p.Met237=)
c.817A= (p.Met273=)
c.772A= (p.Met258=)
17g.6425727G>ACA497687420AIPL1c.888C>T (p.Ser296=)
c.699C>T (p.Ser233=)
c.*760C>T (n.*760C>T)
c.822C>T (p.Ser274=)
c.251+8192C>T
c.852C>T (p.Ser284=)
c.*859C>T (n.*859C>T)
c.708C>T (p.Ser236=)
c.816C>T (p.Ser272=)
c.771C>T (p.Ser257=)
 gnomAD v4
17g.6425727G>CCA497687421AIPL1c.888C>G (p.Ser296=)
c.699C>G (p.Ser233=)
c.*760C>G (n.*760C>G)
c.822C>G (p.Ser274=)
c.251+8192C>G
c.852C>G (p.Ser284=)
c.*859C>G (n.*859C>G)
c.708C>G (p.Ser236=)
c.816C>G (p.Ser272=)
c.771C>G (p.Ser257=)
17g.6425727G>TCA497687422AIPL1c.888C>A (p.Ser296=)
c.699C>A (p.Ser233=)
c.*760C>A (n.*760C>A)
c.822C>A (p.Ser274=)
c.251+8192C>A
c.852C>A (p.Ser284=)
c.*859C>A (n.*859C>A)
c.708C>A (p.Ser236=)
c.816C>A (p.Ser272=)
c.771C>A (p.Ser257=)
17g.6425728G>ACA397394716AIPL1c.887C>T (p.Ser296Phe)
c.698C>T (p.Ser233Phe)
c.*759C>T (n.*759C>T)
c.821C>T (p.Ser274Phe)
c.251+8191C>T
c.851C>T (p.Ser284Phe)
c.*858C>T (n.*858C>T)
c.707C>T (p.Ser236Phe)
c.815C>T (p.Ser272Phe)
c.770C>T (p.Ser257Phe)
 gnomAD v4
17g.6425728G>CCA397394717AIPL1c.887C>G (p.Ser296Cys)
c.698C>G (p.Ser233Cys)
c.*759C>G (n.*759C>G)
c.821C>G (p.Ser274Cys)
c.251+8191C>G
c.851C>G (p.Ser284Cys)
c.*858C>G (n.*858C>G)
c.707C>G (p.Ser236Cys)
c.815C>G (p.Ser272Cys)
c.770C>G (p.Ser257Cys)
17g.6425728G>TCA397394718AIPL1c.887C>A (p.Ser296Tyr)
c.698C>A (p.Ser233Tyr)
c.*759C>A (n.*759C>A)
c.821C>A (p.Ser274Tyr)
c.251+8191C>A
c.851C>A (p.Ser284Tyr)
c.*858C>A (n.*858C>A)
c.707C>A (p.Ser236Tyr)
c.815C>A (p.Ser272Tyr)
c.770C>A (p.Ser257Tyr)
 gnomAD v4
17g.6425729A=CA2245347004AIPL1c.886T= (p.Ser296=)
c.697T= (p.Ser233=)
c.*758T= (n.*758T=)
c.820T= (p.Ser274=)
c.251+8190T=
c.850T= (p.Ser284=)
c.*857T= (n.*857T=)
c.706T= (p.Ser236=)
c.814T= (p.Ser272=)
c.769T= (p.Ser257=)
17g.6425729A>CCA397394719AIPL1c.886T>G (p.Ser296Ala)
c.697T>G (p.Ser233Ala)
c.*758T>G (n.*758T>G)
c.820T>G (p.Ser274Ala)
c.251+8190T>G
c.850T>G (p.Ser284Ala)
c.*857T>G (n.*857T>G)
c.706T>G (p.Ser236Ala)
c.814T>G (p.Ser272Ala)
c.769T>G (p.Ser257Ala)
17g.6425729A>GCA397394720AIPL1c.886T>C (p.Ser296Pro)
c.697T>C (p.Ser233Pro)
c.*758T>C (n.*758T>C)
c.820T>C (p.Ser274Pro)
c.251+8190T>C
c.850T>C (p.Ser284Pro)
c.*857T>C (n.*857T>C)
c.706T>C (p.Ser236Pro)
c.814T>C (p.Ser272Pro)
c.769T>C (p.Ser257Pro)
17g.6425729A>TCA397394721AIPL1c.886T>A (p.Ser296Thr)
c.697T>A (p.Ser233Thr)
c.*758T>A (n.*758T>A)
c.820T>A (p.Ser274Thr)
c.251+8190T>A
c.850T>A (p.Ser284Thr)
c.*857T>A (n.*857T>A)
c.706T>A (p.Ser236Thr)
c.814T>A (p.Ser272Thr)
c.769T>A (p.Ser257Thr)
 dbSNP
17g.6425730delCA2695224200AIPL1c.885del (p.Ser296ProfsTer10)
c.696del (p.Ser233ProfsTer10)
c.*757del (n.*757del)
c.819del (p.Ser274ProfsTer10)
c.251+8189del
c.849del (p.Ser284ProfsTer10)
c.*856del (n.*856del)
c.705del (p.Ser236ProfsTer10)
c.813del (p.Ser272ProfsTer10)
c.768del (p.Ser257ProfsTer10)
17g.6425730C>ACA497687425AIPL1c.885G>T (p.Pro295=)
c.696G>T (p.Pro232=)
c.*757G>T (n.*757G>T)
c.819G>T (p.Pro273=)
c.251+8189G>T
c.849G>T (p.Pro283=)
c.*856G>T (n.*856G>T)
c.705G>T (p.Pro235=)
c.813G>T (p.Pro271=)
c.768G>T (p.Pro256=)
17g.6425730C=CA2245347006AIPL1c.885G= (p.Pro295=)
c.696G= (p.Pro232=)
c.*757G= (n.*757G=)
c.819G= (p.Pro273=)
c.251+8189G=
c.849G= (p.Pro283=)
c.*856G= (n.*856G=)
c.705G= (p.Pro235=)
c.813G= (p.Pro271=)
c.768G= (p.Pro256=)
17g.6425730C>GCA497687424AIPL1c.885G>C (p.Pro295=)
c.696G>C (p.Pro232=)
c.*757G>C (n.*757G>C)
c.819G>C (p.Pro273=)
c.251+8189G>C
c.849G>C (p.Pro283=)
c.*856G>C (n.*856G>C)
c.705G>C (p.Pro235=)
c.813G>C (p.Pro271=)
c.768G>C (p.Pro256=)
17g.6425730C>TCA497687423AIPL1c.885G>A (p.Pro295=)
c.696G>A (p.Pro232=)
c.*757G>A (n.*757G>A)
c.819G>A (p.Pro273=)
c.251+8189G>A
c.849G>A (p.Pro283=)
c.*856G>A (n.*856G>A)
c.705G>A (p.Pro235=)
c.813G>A (p.Pro271=)
c.768G>A (p.Pro256=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6425731G>ACA397394722AIPL1c.884C>T (p.Pro295Leu)
c.695C>T (p.Pro232Leu)
c.*756C>T (n.*756C>T)
c.818C>T (p.Pro273Leu)
c.251+8188C>T
c.848C>T (p.Pro283Leu)
c.*855C>T (n.*855C>T)
c.704C>T (p.Pro235Leu)
c.812C>T (p.Pro271Leu)
c.767C>T (p.Pro256Leu)
 ClinVar gnomAD v4
17g.6425731G>CCA397394723AIPL1c.884C>G (p.Pro295Arg)
c.695C>G (p.Pro232Arg)
c.*756C>G (n.*756C>G)
c.818C>G (p.Pro273Arg)
c.251+8188C>G
c.848C>G (p.Pro283Arg)
c.*855C>G (n.*855C>G)
c.704C>G (p.Pro235Arg)
c.812C>G (p.Pro271Arg)
c.767C>G (p.Pro256Arg)
 ClinVar dbSNP gnomAD v4
17g.6425731G=CA2245347007AIPL1c.884C= (p.Pro295=)
c.695C= (p.Pro232=)
c.*756C= (n.*756C=)
c.818C= (p.Pro273=)
c.251+8188C=
c.848C= (p.Pro283=)
c.*855C= (n.*855C=)
c.704C= (p.Pro235=)
c.812C= (p.Pro271=)
c.767C= (p.Pro256=)
17g.6425731G>TCA397394724AIPL1c.884C>A (p.Pro295Gln)
c.695C>A (p.Pro232Gln)
c.*756C>A (n.*756C>A)
c.818C>A (p.Pro273Gln)
c.251+8188C>A
c.848C>A (p.Pro283Gln)
c.*855C>A (n.*855C>A)
c.704C>A (p.Pro235Gln)
c.812C>A (p.Pro271Gln)
c.767C>A (p.Pro256Gln)
 dbSNP gnomAD v3 gnomAD v4
17g.6425732G>ACA397394725AIPL1c.883C>T (p.Pro295Ser)
c.694C>T (p.Pro232Ser)
c.*755C>T (n.*755C>T)
c.817C>T (p.Pro273Ser)
c.251+8187C>T
c.847C>T (p.Pro283Ser)
c.*854C>T (n.*854C>T)
c.703C>T (p.Pro235Ser)
c.811C>T (p.Pro271Ser)
c.766C>T (p.Pro256Ser)
 gnomAD v4 COSMIC
17g.6425732G>CCA287323880AIPL1c.883C>G (p.Pro295Ala)
c.694C>G (p.Pro232Ala)
c.*755C>G (n.*755C>G)
c.817C>G (p.Pro273Ala)
c.251+8187C>G
c.847C>G (p.Pro283Ala)
c.*854C>G (n.*854C>G)
c.703C>G (p.Pro235Ala)
c.811C>G (p.Pro271Ala)
c.766C>G (p.Pro256Ala)
 dbSNP
17g.6425732G=CA2245347009AIPL1c.883C= (p.Pro295=)
c.694C= (p.Pro232=)
c.*755C= (n.*755C=)
c.817C= (p.Pro273=)
c.251+8187C=
c.847C= (p.Pro283=)
c.*854C= (n.*854C=)
c.703C= (p.Pro235=)
c.811C= (p.Pro271=)
c.766C= (p.Pro256=)
17g.6425732G>TCA397394726AIPL1c.883C>A (p.Pro295Thr)
c.694C>A (p.Pro232Thr)
c.*755C>A (n.*755C>A)
c.817C>A (p.Pro273Thr)
c.251+8187C>A
c.847C>A (p.Pro283Thr)
c.*854C>A (n.*854C>A)
c.703C>A (p.Pro235Thr)
c.811C>A (p.Pro271Thr)
c.766C>A (p.Pro256Thr)
 gnomAD v4
17g.6425733C>ACA397394727AIPL1c.882G>T (p.Glu294Asp)
c.693G>T (p.Glu231Asp)
c.*754G>T (n.*754G>T)
c.816G>T (p.Glu272Asp)
c.251+8186G>T
c.846G>T (p.Glu282Asp)
c.*853G>T (n.*853G>T)
c.702G>T (p.Glu234Asp)
c.810G>T (p.Glu270Asp)
c.765G>T (p.Glu255Asp)
17g.6425733C>GCA397394728AIPL1c.882G>C (p.Glu294Asp)
c.693G>C (p.Glu231Asp)
c.*754G>C (n.*754G>C)
c.816G>C (p.Glu272Asp)
c.251+8186G>C
c.846G>C (p.Glu282Asp)
c.*853G>C (n.*853G>C)
c.702G>C (p.Glu234Asp)
c.810G>C (p.Glu270Asp)
c.765G>C (p.Glu255Asp)
17g.6425733C>TCA497687426AIPL1c.882G>A (p.Glu294=)
c.693G>A (p.Glu231=)
c.*754G>A (n.*754G>A)
c.816G>A (p.Glu272=)
c.251+8186G>A
c.846G>A (p.Glu282=)
c.*853G>A (n.*853G>A)
c.702G>A (p.Glu234=)
c.810G>A (p.Glu270=)
c.765G>A (p.Glu255=)
 ClinVar dbSNP
17g.6425734T>ACA397394729AIPL1c.881A>T (p.Glu294Val)
c.692A>T (p.Glu231Val)
c.*753A>T (n.*753A>T)
c.815A>T (p.Glu272Val)
c.251+8185A>T
c.845A>T (p.Glu282Val)
c.*852A>T (n.*852A>T)
c.701A>T (p.Glu234Val)
c.809A>T (p.Glu270Val)
c.764A>T (p.Glu255Val)
17g.6425734T>CCA397394730AIPL1c.881A>G (p.Glu294Gly)
c.692A>G (p.Glu231Gly)
c.*753A>G (n.*753A>G)
c.815A>G (p.Glu272Gly)
c.251+8185A>G
c.845A>G (p.Glu282Gly)
c.*852A>G (n.*852A>G)
c.701A>G (p.Glu234Gly)
c.809A>G (p.Glu270Gly)
c.764A>G (p.Glu255Gly)
17g.6425734T>GCA397394731AIPL1c.881A>C (p.Glu294Ala)
c.692A>C (p.Glu231Ala)
c.*753A>C (n.*753A>C)
c.815A>C (p.Glu272Ala)
c.251+8185A>C
c.845A>C (p.Glu282Ala)
c.*852A>C (n.*852A>C)
c.701A>C (p.Glu234Ala)
c.809A>C (p.Glu270Ala)
c.764A>C (p.Glu255Ala)
17g.6425735C>ACA397394732AIPL1c.880G>T (p.Glu294Ter)
c.691G>T (p.Glu231Ter)
c.*752G>T (n.*752G>T)
c.814G>T (p.Glu272Ter)
c.251+8184G>T
c.844G>T (p.Glu282Ter)
c.*851G>T (n.*851G>T)
c.700G>T (p.Glu234Ter)
c.808G>T (p.Glu270Ter)
c.763G>T (p.Glu255Ter)
17g.6425735C=CA2245347012AIPL1c.880G= (p.Glu294=)
c.691G= (p.Glu231=)
c.*752G= (n.*752G=)
c.814G= (p.Glu272=)
c.251+8184G=
c.844G= (p.Glu282=)
c.*851G= (n.*851G=)
c.700G= (p.Glu234=)
c.808G= (p.Glu270=)
c.763G= (p.Glu255=)
17g.6425735C>GCA233459AIPL1c.880G>C (p.Glu294Gln)
c.691G>C (p.Glu231Gln)
c.*752G>C (n.*752G>C)
c.814G>C (p.Glu272Gln)
c.251+8184G>C
c.844G>C (p.Glu282Gln)
c.*851G>C (n.*851G>C)
c.700G>C (p.Glu234Gln)
c.808G>C (p.Glu270Gln)
c.763G>C (p.Glu255Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425735C>TCA397394733AIPL1c.880G>A (p.Glu294Lys)
c.691G>A (p.Glu231Lys)
c.*752G>A (n.*752G>A)
c.814G>A (p.Glu272Lys)
c.251+8184G>A
c.844G>A (p.Glu282Lys)
c.*851G>A (n.*851G>A)
c.700G>A (p.Glu234Lys)
c.808G>A (p.Glu270Lys)
c.763G>A (p.Glu255Lys)
17g.6425736C>ACA497687427AIPL1c.879G>T (p.Leu293=)
c.690G>T (p.Leu230=)
c.*751G>T (n.*751G>T)
c.813G>T (p.Leu271=)
c.251+8183G>T
c.843G>T (p.Leu281=)
c.*850G>T (n.*850G>T)
c.699G>T (p.Leu233=)
c.807G>T (p.Leu269=)
c.762G>T (p.Leu254=)
17g.6425736C=CA2245347014AIPL1c.879G= (p.Leu293=)
c.690G= (p.Leu230=)
c.*751G= (n.*751G=)
c.813G= (p.Leu271=)
c.251+8183G=
c.843G= (p.Leu281=)
c.*850G= (n.*850G=)
c.699G= (p.Leu233=)
c.807G= (p.Leu269=)
c.762G= (p.Leu254=)
17g.6425736C>GCA497687428AIPL1c.879G>C (p.Leu293=)
c.690G>C (p.Leu230=)
c.*751G>C (n.*751G>C)
c.813G>C (p.Leu271=)
c.251+8183G>C
c.843G>C (p.Leu281=)
c.*850G>C (n.*850G>C)
c.699G>C (p.Leu233=)
c.807G>C (p.Leu269=)
c.762G>C (p.Leu254=)
17g.6425736C>TCA287323886AIPL1c.879G>A (p.Leu293=)
c.690G>A (p.Leu230=)
c.*751G>A (n.*751G>A)
c.813G>A (p.Leu271=)
c.251+8183G>A
c.843G>A (p.Leu281=)
c.*850G>A (n.*850G>A)
c.699G>A (p.Leu233=)
c.807G>A (p.Leu269=)
c.762G>A (p.Leu254=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425737A>CCA397394736AIPL1c.878T>G (p.Leu293Arg)
c.689T>G (p.Leu230Arg)
c.*750T>G (n.*750T>G)
c.812T>G (p.Leu271Arg)
c.251+8182T>G
c.842T>G (p.Leu281Arg)
c.*849T>G (n.*849T>G)
c.698T>G (p.Leu233Arg)
c.806T>G (p.Leu269Arg)
c.761T>G (p.Leu254Arg)
17g.6425737A>GCA397394735AIPL1c.878T>C (p.Leu293Pro)
c.689T>C (p.Leu230Pro)
c.*750T>C (n.*750T>C)
c.812T>C (p.Leu271Pro)
c.251+8182T>C
c.842T>C (p.Leu281Pro)
c.*849T>C (n.*849T>C)
c.698T>C (p.Leu233Pro)
c.806T>C (p.Leu269Pro)
c.761T>C (p.Leu254Pro)
 gnomAD v4
17g.6425737A>TCA397394734AIPL1c.878T>A (p.Leu293Gln)
c.689T>A (p.Leu230Gln)
c.*750T>A (n.*750T>A)
c.812T>A (p.Leu271Gln)
c.251+8182T>A
c.842T>A (p.Leu281Gln)
c.*849T>A (n.*849T>A)
c.698T>A (p.Leu233Gln)
c.806T>A (p.Leu269Gln)
c.761T>A (p.Leu254Gln)
 gnomAD v4
17g.6425738G>ACA287323888AIPL1c.877C>T (p.Leu293=)
c.688C>T (p.Leu230=)
c.*749C>T (n.*749C>T)
c.811C>T (p.Leu271=)
c.251+8181C>T
c.841C>T (p.Leu281=)
c.*848C>T (n.*848C>T)
c.697C>T (p.Leu233=)
c.805C>T (p.Leu269=)
c.760C>T (p.Leu254=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425738G>CCA397394737AIPL1c.877C>G (p.Leu293Val)
c.688C>G (p.Leu230Val)
c.*749C>G (n.*749C>G)
c.811C>G (p.Leu271Val)
c.251+8181C>G
c.841C>G (p.Leu281Val)
c.*848C>G (n.*848C>G)
c.697C>G (p.Leu233Val)
c.805C>G (p.Leu269Val)
c.760C>G (p.Leu254Val)
 gnomAD v4
17g.6425738G=CA2245347016AIPL1c.877C= (p.Leu293=)
c.688C= (p.Leu230=)
c.*749C= (n.*749C=)
c.811C= (p.Leu271=)
c.251+8181C=
c.841C= (p.Leu281=)
c.*848C= (n.*848C=)
c.697C= (p.Leu233=)
c.805C= (p.Leu269=)
c.760C= (p.Leu254=)
17g.6425738G>TCA397394738AIPL1c.877C>A (p.Leu293Met)
c.688C>A (p.Leu230Met)
c.*749C>A (n.*749C>A)
c.811C>A (p.Leu271Met)
c.251+8181C>A
c.841C>A (p.Leu281Met)
c.*848C>A (n.*848C>A)
c.697C>A (p.Leu233Met)
c.805C>A (p.Leu269Met)
c.760C>A (p.Leu254Met)
 gnomAD v4
17g.6425739C>ACA397394739AIPL1c.876G>T (p.Glu292Asp)
c.687G>T (p.Glu229Asp)
c.*748G>T (n.*748G>T)
c.810G>T (p.Glu270Asp)
c.251+8180G>T
c.840G>T (p.Glu280Asp)
c.*847G>T (n.*847G>T)
c.696G>T (p.Glu232Asp)
c.804G>T (p.Glu268Asp)
c.759G>T (p.Glu253Asp)
17g.6425739C=CA2245347018AIPL1c.876G= (p.Glu292=)
c.687G= (p.Glu229=)
c.*748G= (n.*748G=)
c.810G= (p.Glu270=)
c.251+8180G=
c.840G= (p.Glu280=)
c.*847G= (n.*847G=)
c.696G= (p.Glu232=)
c.804G= (p.Glu268=)
c.759G= (p.Glu253=)
17g.6425739C>GCA397394740AIPL1c.876G>C (p.Glu292Asp)
c.687G>C (p.Glu229Asp)
c.*748G>C (n.*748G>C)
c.810G>C (p.Glu270Asp)
c.251+8180G>C
c.840G>C (p.Glu280Asp)
c.*847G>C (n.*847G>C)
c.696G>C (p.Glu232Asp)
c.804G>C (p.Glu268Asp)
c.759G>C (p.Glu253Asp)
 dbSNP
17g.6425739C>TCA497687429AIPL1c.876G>A (p.Glu292=)
c.687G>A (p.Glu229=)
c.*748G>A (n.*748G>A)
c.810G>A (p.Glu270=)
c.251+8180G>A
c.840G>A (p.Glu280=)
c.*847G>A (n.*847G>A)
c.696G>A (p.Glu232=)
c.804G>A (p.Glu268=)
c.759G>A (p.Glu253=)
17g.6425740T>ACA397394741AIPL1c.875A>T (p.Glu292Val)
c.686A>T (p.Glu229Val)
c.*747A>T (n.*747A>T)
c.809A>T (p.Glu270Val)
c.251+8179A>T
c.839A>T (p.Glu280Val)
c.*846A>T (n.*846A>T)
c.695A>T (p.Glu232Val)
c.803A>T (p.Glu268Val)
c.758A>T (p.Glu253Val)
17g.6425740T>CCA397394742AIPL1c.875A>G (p.Glu292Gly)
c.686A>G (p.Glu229Gly)
c.*747A>G (n.*747A>G)
c.809A>G (p.Glu270Gly)
c.251+8179A>G
c.839A>G (p.Glu280Gly)
c.*846A>G (n.*846A>G)
c.695A>G (p.Glu232Gly)
c.803A>G (p.Glu268Gly)
c.758A>G (p.Glu253Gly)
 gnomAD v4
17g.6425740T>GCA397394743AIPL1c.875A>C (p.Glu292Ala)
c.686A>C (p.Glu229Ala)
c.*747A>C (n.*747A>C)
c.809A>C (p.Glu270Ala)
c.251+8179A>C
c.839A>C (p.Glu280Ala)
c.*846A>C (n.*846A>C)
c.695A>C (p.Glu232Ala)
c.803A>C (p.Glu268Ala)
c.758A>C (p.Glu253Ala)
17g.6425741C>ACA397394744AIPL1c.874G>T (p.Glu292Ter)
c.685G>T (p.Glu229Ter)
c.*746G>T (n.*746G>T)
c.808G>T (p.Glu270Ter)
c.251+8178G>T
c.838G>T (p.Glu280Ter)
c.*845G>T (n.*845G>T)
c.694G>T (p.Glu232Ter)
c.802G>T (p.Glu268Ter)
c.757G>T (p.Glu253Ter)
 gnomAD v4
17g.6425741C>GCA397394745AIPL1c.874G>C (p.Glu292Gln)
c.685G>C (p.Glu229Gln)
c.*746G>C (n.*746G>C)
c.808G>C (p.Glu270Gln)
c.251+8178G>C
c.838G>C (p.Glu280Gln)
c.*845G>C (n.*845G>C)
c.694G>C (p.Glu232Gln)
c.802G>C (p.Glu268Gln)
c.757G>C (p.Glu253Gln)
17g.6425741C>TCA397394746AIPL1c.874G>A (p.Glu292Lys)
c.685G>A (p.Glu229Lys)
c.*746G>A (n.*746G>A)
c.808G>A (p.Glu270Lys)
c.251+8178G>A
c.838G>A (p.Glu280Lys)
c.*845G>A (n.*845G>A)
c.694G>A (p.Glu232Lys)
c.802G>A (p.Glu268Lys)
c.757G>A (p.Glu253Lys)
17g.6425742C>ACA497687431AIPL1c.873G>T (p.Leu291=)
c.684G>T (p.Leu228=)
c.*745G>T (n.*745G>T)
c.807G>T (p.Leu269=)
c.251+8177G>T
c.837G>T (p.Leu279=)
c.*844G>T (n.*844G>T)
c.693G>T (p.Leu231=)
c.801G>T (p.Leu267=)
c.756G>T (p.Leu252=)
17g.6425742C>GCA497687430AIPL1c.873G>C (p.Leu291=)
c.684G>C (p.Leu228=)
c.*745G>C (n.*745G>C)
c.807G>C (p.Leu269=)
c.251+8177G>C
c.837G>C (p.Leu279=)
c.*844G>C (n.*844G>C)
c.693G>C (p.Leu231=)
c.801G>C (p.Leu267=)
c.756G>C (p.Leu252=)
17g.6425742C>TCA497687432AIPL1c.873G>A (p.Leu291=)
c.684G>A (p.Leu228=)
c.*745G>A (n.*745G>A)
c.807G>A (p.Leu269=)
c.251+8177G>A
c.837G>A (p.Leu279=)
c.*844G>A (n.*844G>A)
c.693G>A (p.Leu231=)
c.801G>A (p.Leu267=)
c.756G>A (p.Leu252=)
 gnomAD v4
17g.6425743A>CCA397394747AIPL1c.872T>G (p.Leu291Arg)
c.683T>G (p.Leu228Arg)
c.*744T>G (n.*744T>G)
c.806T>G (p.Leu269Arg)
c.251+8176T>G
c.836T>G (p.Leu279Arg)
c.*843T>G (n.*843T>G)
c.692T>G (p.Leu231Arg)
c.800T>G (p.Leu267Arg)
c.755T>G (p.Leu252Arg)
17g.6425743A>GCA397394748AIPL1c.872T>C (p.Leu291Pro)
c.683T>C (p.Leu228Pro)
c.*744T>C (n.*744T>C)
c.806T>C (p.Leu269Pro)
c.251+8176T>C
c.836T>C (p.Leu279Pro)
c.*843T>C (n.*843T>C)
c.692T>C (p.Leu231Pro)
c.800T>C (p.Leu267Pro)
c.755T>C (p.Leu252Pro)
17g.6425743A>TCA397394749AIPL1c.872T>A (p.Leu291Gln)
c.683T>A (p.Leu228Gln)
c.*744T>A (n.*744T>A)
c.806T>A (p.Leu269Gln)
c.251+8176T>A
c.836T>A (p.Leu279Gln)
c.*843T>A (n.*843T>A)
c.692T>A (p.Leu231Gln)
c.800T>A (p.Leu267Gln)
c.755T>A (p.Leu252Gln)
17g.6425744G>ACA497687433AIPL1c.871C>T (p.Leu291=)
c.682C>T (p.Leu228=)
c.*743C>T (n.*743C>T)
c.805C>T (p.Leu269=)
c.251+8175C>T
c.835C>T (p.Leu279=)
c.*842C>T (n.*842C>T)
c.691C>T (p.Leu231=)
c.799C>T (p.Leu267=)
c.754C>T (p.Leu252=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425744G>CCA397394750AIPL1c.871C>G (p.Leu291Val)
c.682C>G (p.Leu228Val)
c.*743C>G (n.*743C>G)
c.805C>G (p.Leu269Val)
c.251+8175C>G
c.835C>G (p.Leu279Val)
c.*842C>G (n.*842C>G)
c.691C>G (p.Leu231Val)
c.799C>G (p.Leu267Val)
c.754C>G (p.Leu252Val)
 gnomAD v4
17g.6425744G=CA2245347020AIPL1c.871C= (p.Leu291=)
c.682C= (p.Leu228=)
c.*743C= (n.*743C=)
c.805C= (p.Leu269=)
c.251+8175C=
c.835C= (p.Leu279=)
c.*842C= (n.*842C=)
c.691C= (p.Leu231=)
c.799C= (p.Leu267=)
c.754C= (p.Leu252=)
17g.6425744G>TCA397394751AIPL1c.871C>A (p.Leu291Met)
c.682C>A (p.Leu228Met)
c.*743C>A (n.*743C>A)
c.805C>A (p.Leu269Met)
c.251+8175C>A
c.835C>A (p.Leu279Met)
c.*842C>A (n.*842C>A)
c.691C>A (p.Leu231Met)
c.799C>A (p.Leu267Met)
c.754C>A (p.Leu252Met)
 gnomAD v4
17g.6425745C>ACA497687434AIPL1c.870G>T (p.Val290=)
c.681G>T (p.Val227=)
c.*742G>T (n.*742G>T)
c.804G>T (p.Val268=)
c.251+8174G>T
c.834G>T (p.Val278=)
c.*841G>T (n.*841G>T)
c.690G>T (p.Val230=)
c.798G>T (p.Val266=)
c.753G>T (p.Val251=)
17g.6425745C>GCA497687435AIPL1c.870G>C (p.Val290=)
c.681G>C (p.Val227=)
c.*742G>C (n.*742G>C)
c.804G>C (p.Val268=)
c.251+8174G>C
c.834G>C (p.Val278=)
c.*841G>C (n.*841G>C)
c.690G>C (p.Val230=)
c.798G>C (p.Val266=)
c.753G>C (p.Val251=)
17g.6425745C>TCA497687436AIPL1c.870G>A (p.Val290=)
c.681G>A (p.Val227=)
c.*742G>A (n.*742G>A)
c.804G>A (p.Val268=)
c.251+8174G>A
c.834G>A (p.Val278=)
c.*841G>A (n.*841G>A)
c.690G>A (p.Val230=)
c.798G>A (p.Val266=)
c.753G>A (p.Val251=)
 gnomAD v4
17g.6425746A>CCA397394752AIPL1c.869T>G (p.Val290Gly)
c.680T>G (p.Val227Gly)
c.*741T>G (n.*741T>G)
c.803T>G (p.Val268Gly)
c.251+8173T>G
c.833T>G (p.Val278Gly)
c.*840T>G (n.*840T>G)
c.689T>G (p.Val230Gly)
c.797T>G (p.Val266Gly)
c.752T>G (p.Val251Gly)
17g.6425746A>GCA397394753AIPL1c.869T>C (p.Val290Ala)
c.680T>C (p.Val227Ala)
c.*741T>C (n.*741T>C)
c.803T>C (p.Val268Ala)
c.251+8173T>C
c.833T>C (p.Val278Ala)
c.*840T>C (n.*840T>C)
c.689T>C (p.Val230Ala)
c.797T>C (p.Val266Ala)
c.752T>C (p.Val251Ala)
17g.6425746A>TCA397394754AIPL1c.869T>A (p.Val290Glu)
c.680T>A (p.Val227Glu)
c.*741T>A (n.*741T>A)
c.803T>A (p.Val268Glu)
c.251+8173T>A
c.833T>A (p.Val278Glu)
c.*840T>A (n.*840T>A)
c.689T>A (p.Val230Glu)
c.797T>A (p.Val266Glu)
c.752T>A (p.Val251Glu)
17g.6425747C>ACA397394755AIPL1c.868G>T (p.Val290Leu)
c.679G>T (p.Val227Leu)
c.*740G>T (n.*740G>T)
c.802G>T (p.Val268Leu)
c.251+8172G>T
c.832G>T (p.Val278Leu)
c.*839G>T (n.*839G>T)
c.688G>T (p.Val230Leu)
c.796G>T (p.Val266Leu)
c.751G>T (p.Val251Leu)
17g.6425747C=CA2245347021AIPL1c.868G= (p.Val290=)
c.679G= (p.Val227=)
c.*740G= (n.*740G=)
c.802G= (p.Val268=)
c.251+8172G=
c.832G= (p.Val278=)
c.*839G= (n.*839G=)
c.688G= (p.Val230=)
c.796G= (p.Val266=)
c.751G= (p.Val251=)
17g.6425747C>GCA8328364AIPL1c.868G>C (p.Val290Leu)
c.679G>C (p.Val227Leu)
c.*740G>C (n.*740G>C)
c.802G>C (p.Val268Leu)
c.251+8172G>C
c.832G>C (p.Val278Leu)
c.*839G>C (n.*839G>C)
c.688G>C (p.Val230Leu)
c.796G>C (p.Val266Leu)
c.751G>C (p.Val251Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425747C>TCA397394756AIPL1c.868G>A (p.Val290Met)
c.679G>A (p.Val227Met)
c.*740G>A (n.*740G>A)
c.802G>A (p.Val268Met)
c.251+8172G>A
c.832G>A (p.Val278Met)
c.*839G>A (n.*839G>A)
c.688G>A (p.Val230Met)
c.796G>A (p.Val266Met)
c.751G>A (p.Val251Met)
17g.6425748T>ACA8328365AIPL1c.867A>T (p.Lys289Asn)
c.678A>T (p.Lys226Asn)
c.*739A>T (n.*739A>T)
c.801A>T (p.Lys267Asn)
c.251+8171A>T
c.831A>T (p.Lys277Asn)
c.*838A>T (n.*838A>T)
c.687A>T (p.Lys229Asn)
c.795A>T (p.Lys265Asn)
c.750A>T (p.Lys250Asn)
 dbSNP ExAC
17g.6425748T>CCA497687437AIPL1c.867A>G (p.Lys289=)
c.678A>G (p.Lys226=)
c.*739A>G (n.*739A>G)
c.801A>G (p.Lys267=)
c.251+8171A>G
c.831A>G (p.Lys277=)
c.*838A>G (n.*838A>G)
c.687A>G (p.Lys229=)
c.795A>G (p.Lys265=)
c.750A>G (p.Lys250=)
 ClinVar
17g.6425748T>GCA397394757AIPL1c.867A>C (p.Lys289Asn)
c.678A>C (p.Lys226Asn)
c.*739A>C (n.*739A>C)
c.801A>C (p.Lys267Asn)
c.251+8171A>C
c.831A>C (p.Lys277Asn)
c.*838A>C (n.*838A>C)
c.687A>C (p.Lys229Asn)
c.795A>C (p.Lys265Asn)
c.750A>C (p.Lys250Asn)
17g.6425748T=CA2245347022AIPL1c.867A= (p.Lys289=)
c.678A= (p.Lys226=)
c.*739A= (n.*739A=)
c.801A= (p.Lys267=)
c.251+8171A=
c.831A= (p.Lys277=)
c.*838A= (n.*838A=)
c.687A= (p.Lys229=)
c.795A= (p.Lys265=)
c.750A= (p.Lys250=)
17g.6425750dupCA2697556145AIPL1c.867dup (p.Val290SerfsTer?)
c.678dup (p.Val227SerfsTer?)
c.*739dup (n.*739dup)
c.801dup (p.Val268SerfsTer?)
c.251+8171dup
c.831dup (p.Val278SerfsTer?)
c.*838dup (n.*838dup)
c.687dup (p.Val230SerfsTer?)
c.795dup (p.Val266SerfsTer?)
c.750dup (p.Val251SerfsTer?)
 ClinVar
17g.6425749T>ACA397394758AIPL1c.866A>T (p.Lys289Ile)
c.677A>T (p.Lys226Ile)
c.*738A>T (n.*738A>T)
c.800A>T (p.Lys267Ile)
c.251+8170A>T
c.830A>T (p.Lys277Ile)
c.*837A>T (n.*837A>T)
c.686A>T (p.Lys229Ile)
c.794A>T (p.Lys265Ile)
c.749A>T (p.Lys250Ile)
17g.6425749T>CCA397394759AIPL1c.866A>G (p.Lys289Arg)
c.677A>G (p.Lys226Arg)
c.*738A>G (n.*738A>G)
c.800A>G (p.Lys267Arg)
c.251+8170A>G
c.830A>G (p.Lys277Arg)
c.*837A>G (n.*837A>G)
c.686A>G (p.Lys229Arg)
c.794A>G (p.Lys265Arg)
c.749A>G (p.Lys250Arg)
 dbSNP
17g.6425749T>GCA397394760AIPL1c.866A>C (p.Lys289Thr)
c.677A>C (p.Lys226Thr)
c.*738A>C (n.*738A>C)
c.800A>C (p.Lys267Thr)
c.251+8170A>C
c.830A>C (p.Lys277Thr)
c.*837A>C (n.*837A>C)
c.686A>C (p.Lys229Thr)
c.794A>C (p.Lys265Thr)
c.749A>C (p.Lys250Thr)
 COSMIC
17g.6425749T=CA2245347024AIPL1c.866A= (p.Lys289=)
c.677A= (p.Lys226=)
c.*738A= (n.*738A=)
c.800A= (p.Lys267=)
c.251+8170A=
c.830A= (p.Lys277=)
c.*837A= (n.*837A=)
c.686A= (p.Lys229=)
c.794A= (p.Lys265=)
c.749A= (p.Lys250=)
17g.6425750T>ACA397394761AIPL1c.865A>T (p.Lys289Ter)
c.676A>T (p.Lys226Ter)
c.*737A>T (n.*737A>T)
c.799A>T (p.Lys267Ter)
c.251+8169A>T
c.829A>T (p.Lys277Ter)
c.*836A>T (n.*836A>T)
c.685A>T (p.Lys229Ter)
c.793A>T (p.Lys265Ter)
c.748A>T (p.Lys250Ter)
 gnomAD v4
17g.6425750T>CCA397394762AIPL1c.865A>G (p.Lys289Glu)
c.676A>G (p.Lys226Glu)
c.*737A>G (n.*737A>G)
c.799A>G (p.Lys267Glu)
c.251+8169A>G
c.829A>G (p.Lys277Glu)
c.*836A>G (n.*836A>G)
c.685A>G (p.Lys229Glu)
c.793A>G (p.Lys265Glu)
c.748A>G (p.Lys250Glu)
17g.6425750T>GCA8328366AIPL1c.865A>C (p.Lys289Gln)
c.676A>C (p.Lys226Gln)
c.*737A>C (n.*737A>C)
c.799A>C (p.Lys267Gln)
c.251+8169A>C
c.829A>C (p.Lys277Gln)
c.*836A>C (n.*836A>C)
c.685A>C (p.Lys229Gln)
c.793A>C (p.Lys265Gln)
c.748A>C (p.Lys250Gln)
 dbSNP ExAC gnomAD v2
17g.6425750T=CA2245347026AIPL1c.865A= (p.Lys289=)
c.676A= (p.Lys226=)
c.*737A= (n.*737A=)
c.799A= (p.Lys267=)
c.251+8169A=
c.829A= (p.Lys277=)
c.*836A= (n.*836A=)
c.685A= (p.Lys229=)
c.793A= (p.Lys265=)
c.748A= (p.Lys250=)
17g.6425751C>ACA397394763AIPL1c.864G>T (p.Gln288His)
c.675G>T (p.Gln225His)
c.*736G>T (n.*736G>T)
c.798G>T (p.Gln266His)
c.251+8168G>T
c.828G>T (p.Gln276His)
c.*835G>T (n.*835G>T)
c.684G>T (p.Gln228His)
c.792G>T (p.Gln264His)
c.747G>T (p.Gln249His)
17g.6425751C=CA2245347028AIPL1c.864G= (p.Gln288=)
c.675G= (p.Gln225=)
c.*736G= (n.*736G=)
c.798G= (p.Gln266=)
c.251+8168G=
c.828G= (p.Gln276=)
c.*835G= (n.*835G=)
c.684G= (p.Gln228=)
c.792G= (p.Gln264=)
c.747G= (p.Gln249=)
17g.6425751C>GCA246739AIPL1c.864G>C (p.Gln288His)
c.675G>C (p.Gln225His)
c.*736G>C (n.*736G>C)
c.798G>C (p.Gln266His)
c.251+8168G>C
c.828G>C (p.Gln276His)
c.*835G>C (n.*835G>C)
c.684G>C (p.Gln228His)
c.792G>C (p.Gln264His)
c.747G>C (p.Gln249His)
 ClinVar dbSNP gnomAD v4
17g.6425751C>TCA497687438AIPL1c.864G>A (p.Gln288=)
c.675G>A (p.Gln225=)
c.*736G>A (n.*736G>A)
c.798G>A (p.Gln266=)
c.251+8168G>A
c.828G>A (p.Gln276=)
c.*835G>A (n.*835G>A)
c.684G>A (p.Gln228=)
c.792G>A (p.Gln264=)
c.747G>A (p.Gln249=)
17g.6425752T>ACA397394764AIPL1c.863A>T (p.Gln288Leu)
c.674A>T (p.Gln225Leu)
c.*735A>T (n.*735A>T)
c.797A>T (p.Gln266Leu)
c.251+8167A>T
c.827A>T (p.Gln276Leu)
c.*834A>T (n.*834A>T)
c.683A>T (p.Gln228Leu)
c.791A>T (p.Gln264Leu)
c.746A>T (p.Gln249Leu)
17g.6425752T>CCA397394765AIPL1c.863A>G (p.Gln288Arg)
c.674A>G (p.Gln225Arg)
c.*735A>G (n.*735A>G)
c.797A>G (p.Gln266Arg)
c.251+8167A>G
c.827A>G (p.Gln276Arg)
c.*834A>G (n.*834A>G)
c.683A>G (p.Gln228Arg)
c.791A>G (p.Gln264Arg)
c.746A>G (p.Gln249Arg)
 dbSNP
17g.6425752T>GCA397394766AIPL1c.863A>C (p.Gln288Pro)
c.674A>C (p.Gln225Pro)
c.*735A>C (n.*735A>C)
c.797A>C (p.Gln266Pro)
c.251+8167A>C
c.827A>C (p.Gln276Pro)
c.*834A>C (n.*834A>C)
c.683A>C (p.Gln228Pro)
c.791A>C (p.Gln264Pro)
c.746A>C (p.Gln249Pro)
17g.6425753G>ACA397394767AIPL1c.862C>T (p.Gln288Ter)
c.673C>T (p.Gln225Ter)
c.*734C>T (n.*734C>T)
c.796C>T (p.Gln266Ter)
c.251+8166C>T
c.826C>T (p.Gln276Ter)
c.*833C>T (n.*833C>T)
c.682C>T (p.Gln228Ter)
c.790C>T (p.Gln264Ter)
c.745C>T (p.Gln249Ter)
17g.6425753G>CCA397394768AIPL1c.862C>G (p.Gln288Glu)
c.673C>G (p.Gln225Glu)
c.*734C>G (n.*734C>G)
c.796C>G (p.Gln266Glu)
c.251+8166C>G
c.826C>G (p.Gln276Glu)
c.*833C>G (n.*833C>G)
c.682C>G (p.Gln228Glu)
c.790C>G (p.Gln264Glu)
c.745C>G (p.Gln249Glu)
17g.6425753G=CA2245347031AIPL1c.862C= (p.Gln288=)
c.673C= (p.Gln225=)
c.*734C= (n.*734C=)
c.796C= (p.Gln266=)
c.251+8166C=
c.826C= (p.Gln276=)
c.*833C= (n.*833C=)
c.682C= (p.Gln228=)
c.790C= (p.Gln264=)
c.745C= (p.Gln249=)
17g.6425753G>TCA397394769AIPL1c.862C>A (p.Gln288Lys)
c.673C>A (p.Gln225Lys)
c.*734C>A (n.*734C>A)
c.796C>A (p.Gln266Lys)
c.251+8166C>A
c.826C>A (p.Gln276Lys)
c.*833C>A (n.*833C>A)
c.682C>A (p.Gln228Lys)
c.790C>A (p.Gln264Lys)
c.745C>A (p.Gln249Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.6425754G>ACA497687439AIPL1c.861C>T (p.Leu287=)
c.672C>T (p.Leu224=)
c.*733C>T (n.*733C>T)
c.795C>T (p.Leu265=)
c.251+8165C>T
c.825C>T (p.Leu275=)
c.*832C>T (n.*832C>T)
c.681C>T (p.Leu227=)
c.789C>T (p.Leu263=)
c.744C>T (p.Leu248=)
17g.6425754G>CCA497687440AIPL1c.861C>G (p.Leu287=)
c.672C>G (p.Leu224=)
c.*733C>G (n.*733C>G)
c.795C>G (p.Leu265=)
c.251+8165C>G
c.825C>G (p.Leu275=)
c.*832C>G (n.*832C>G)
c.681C>G (p.Leu227=)
c.789C>G (p.Leu263=)
c.744C>G (p.Leu248=)
17g.6425754G>TCA497687441AIPL1c.861C>A (p.Leu287=)
c.672C>A (p.Leu224=)
c.*733C>A (n.*733C>A)
c.795C>A (p.Leu265=)
c.251+8165C>A
c.825C>A (p.Leu275=)
c.*832C>A (n.*832C>A)
c.681C>A (p.Leu227=)
c.789C>A (p.Leu263=)
c.744C>A (p.Leu248=)
 gnomAD v4
17g.6425755A=CA2245347033AIPL1c.860T= (p.Leu287=)
c.671T= (p.Leu224=)
c.*732T= (n.*732T=)
c.794T= (p.Leu265=)
c.251+8164T=
c.824T= (p.Leu275=)
c.*831T= (n.*831T=)
c.680T= (p.Leu227=)
c.788T= (p.Leu263=)
c.743T= (p.Leu248=)
17g.6425755A>CCA8328367AIPL1c.860T>G (p.Leu287Arg)
c.671T>G (p.Leu224Arg)
c.*732T>G (n.*732T>G)
c.794T>G (p.Leu265Arg)
c.251+8164T>G
c.824T>G (p.Leu275Arg)
c.*831T>G (n.*831T>G)
c.680T>G (p.Leu227Arg)
c.788T>G (p.Leu263Arg)
c.743T>G (p.Leu248Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425755A>GCA397394770AIPL1c.860T>C (p.Leu287Pro)
c.671T>C (p.Leu224Pro)
c.*732T>C (n.*732T>C)
c.794T>C (p.Leu265Pro)
c.251+8164T>C
c.824T>C (p.Leu275Pro)
c.*831T>C (n.*831T>C)
c.680T>C (p.Leu227Pro)
c.788T>C (p.Leu263Pro)
c.743T>C (p.Leu248Pro)
17g.6425755A>TCA397394771AIPL1c.860T>A (p.Leu287His)
c.671T>A (p.Leu224His)
c.*732T>A (n.*732T>A)
c.794T>A (p.Leu265His)
c.251+8164T>A
c.824T>A (p.Leu275His)
c.*831T>A (n.*831T>A)
c.680T>A (p.Leu227His)
c.788T>A (p.Leu263His)
c.743T>A (p.Leu248His)
17g.6425756G>ACA397394772AIPL1c.859C>T (p.Leu287Phe)
c.670C>T (p.Leu224Phe)
c.*731C>T (n.*731C>T)
c.793C>T (p.Leu265Phe)
c.251+8163C>T
c.823C>T (p.Leu275Phe)
c.*830C>T (n.*830C>T)
c.679C>T (p.Leu227Phe)
c.787C>T (p.Leu263Phe)
c.742C>T (p.Leu248Phe)
17g.6425756G>CCA397394773AIPL1c.859C>G (p.Leu287Val)
c.670C>G (p.Leu224Val)
c.*731C>G (n.*731C>G)
c.793C>G (p.Leu265Val)
c.251+8163C>G
c.823C>G (p.Leu275Val)
c.*830C>G (n.*830C>G)
c.679C>G (p.Leu227Val)
c.787C>G (p.Leu263Val)
c.742C>G (p.Leu248Val)
 dbSNP
17g.6425756G=CA2245347036AIPL1c.859C= (p.Leu287=)
c.670C= (p.Leu224=)
c.*731C= (n.*731C=)
c.793C= (p.Leu265=)
c.251+8163C=
c.823C= (p.Leu275=)
c.*830C= (n.*830C=)
c.679C= (p.Leu227=)
c.787C= (p.Leu263=)
c.742C= (p.Leu248=)
17g.6425756G>TCA397394774AIPL1c.859C>A (p.Leu287Ile)
c.670C>A (p.Leu224Ile)
c.*731C>A (n.*731C>A)
c.793C>A (p.Leu265Ile)
c.251+8163C>A
c.823C>A (p.Leu275Ile)
c.*830C>A (n.*830C>A)
c.679C>A (p.Leu227Ile)
c.787C>A (p.Leu263Ile)
c.742C>A (p.Leu248Ile)
 gnomAD v4
17g.6425757G>ACA497687442AIPL1c.858C>T (p.Asp286=)
c.669C>T (p.Asp223=)
c.*730C>T (n.*730C>T)
c.792C>T (p.Asp264=)
c.251+8162C>T
c.822C>T (p.Asp274=)
c.*829C>T (n.*829C>T)
c.678C>T (p.Asp226=)
c.786C>T (p.Asp262=)
c.741C>T (p.Asp247=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425757G>CCA397394776AIPL1c.858C>G (p.Asp286Glu)
c.669C>G (p.Asp223Glu)
c.*730C>G (n.*730C>G)
c.792C>G (p.Asp264Glu)
c.251+8162C>G
c.822C>G (p.Asp274Glu)
c.*829C>G (n.*829C>G)
c.678C>G (p.Asp226Glu)
c.786C>G (p.Asp262Glu)
c.741C>G (p.Asp247Glu)
17g.6425757G=CA2245347038AIPL1c.858C= (p.Asp286=)
c.669C= (p.Asp223=)
c.*730C= (n.*730C=)
c.792C= (p.Asp264=)
c.251+8162C=
c.822C= (p.Asp274=)
c.*829C= (n.*829C=)
c.678C= (p.Asp226=)
c.786C= (p.Asp262=)
c.741C= (p.Asp247=)
17g.6425757G>TCA397394775AIPL1c.858C>A (p.Asp286Glu)
c.669C>A (p.Asp223Glu)
c.*730C>A (n.*730C>A)
c.792C>A (p.Asp264Glu)
c.251+8162C>A
c.822C>A (p.Asp274Glu)
c.*829C>A (n.*829C>A)
c.678C>A (p.Asp226Glu)
c.786C>A (p.Asp262Glu)
c.741C>A (p.Asp247Glu)
 gnomAD v4
17g.6425758T>ACA397394777AIPL1c.857A>T (p.Asp286Val)
c.668A>T (p.Asp223Val)
c.*729A>T (n.*729A>T)
c.791A>T (p.Asp264Val)
c.251+8161A>T
c.821A>T (p.Asp274Val)
c.*828A>T (n.*828A>T)
c.677A>T (p.Asp226Val)
c.785A>T (p.Asp262Val)
c.740A>T (p.Asp247Val)
 ClinVar dbSNP
17g.6425758T>CCA397394778AIPL1c.857A>G (p.Asp286Gly)
c.668A>G (p.Asp223Gly)
c.*729A>G (n.*729A>G)
c.791A>G (p.Asp264Gly)
c.251+8161A>G
c.821A>G (p.Asp274Gly)
c.*828A>G (n.*828A>G)
c.677A>G (p.Asp226Gly)
c.785A>G (p.Asp262Gly)
c.740A>G (p.Asp247Gly)
17g.6425758T>GCA397394779AIPL1c.857A>C (p.Asp286Ala)
c.668A>C (p.Asp223Ala)
c.*729A>C (n.*729A>C)
c.791A>C (p.Asp264Ala)
c.251+8161A>C
c.821A>C (p.Asp274Ala)
c.*828A>C (n.*828A>C)
c.677A>C (p.Asp226Ala)
c.785A>C (p.Asp262Ala)
c.740A>C (p.Asp247Ala)
 dbSNP
17g.6425758T=CA2245347040AIPL1c.857A= (p.Asp286=)
c.668A= (p.Asp223=)
c.*729A= (n.*729A=)
c.791A= (p.Asp264=)
c.251+8161A=
c.821A= (p.Asp274=)
c.*828A= (n.*828A=)
c.677A= (p.Asp226=)
c.785A= (p.Asp262=)
c.740A= (p.Asp247=)
17g.6425759C>ACA397394780AIPL1c.856G>T (p.Asp286Tyr)
c.667G>T (p.Asp223Tyr)
c.*728G>T (n.*728G>T)
c.790G>T (p.Asp264Tyr)
c.251+8160G>T
c.820G>T (p.Asp274Tyr)
c.*827G>T (n.*827G>T)
c.676G>T (p.Asp226Tyr)
c.784G>T (p.Asp262Tyr)
c.739G>T (p.Asp247Tyr)
 gnomAD v4
17g.6425759C>GCA397394781AIPL1c.856G>C (p.Asp286His)
c.667G>C (p.Asp223His)
c.*728G>C (n.*728G>C)
c.790G>C (p.Asp264His)
c.251+8160G>C
c.820G>C (p.Asp274His)
c.*827G>C (n.*827G>C)
c.676G>C (p.Asp226His)
c.784G>C (p.Asp262His)
c.739G>C (p.Asp247His)
 gnomAD v4
17g.6425759C>TCA397394782AIPL1c.856G>A (p.Asp286Asn)
c.667G>A (p.Asp223Asn)
c.*728G>A (n.*728G>A)
c.790G>A (p.Asp264Asn)
c.251+8160G>A
c.820G>A (p.Asp274Asn)
c.*827G>A (n.*827G>A)
c.676G>A (p.Asp226Asn)
c.784G>A (p.Asp262Asn)
c.739G>A (p.Asp247Asn)
17g.6425760C>ACA497687443AIPL1c.855G>T (p.Ala285=)
c.666G>T (p.Ala222=)
c.*727G>T (n.*727G>T)
c.789G>T (p.Ala263=)
c.251+8159G>T
c.819G>T (p.Ala273=)
c.*826G>T (n.*826G>T)
c.675G>T (p.Ala225=)
c.783G>T (p.Ala261=)
c.738G>T (p.Ala246=)
17g.6425760C=CA2245347043AIPL1c.855G= (p.Ala285=)
c.666G= (p.Ala222=)
c.*727G= (n.*727G=)
c.789G= (p.Ala263=)
c.251+8159G=
c.819G= (p.Ala273=)
c.*826G= (n.*826G=)
c.675G= (p.Ala225=)
c.783G= (p.Ala261=)
c.738G= (p.Ala246=)
17g.6425760C>GCA497687444AIPL1c.855G>C (p.Ala285=)
c.666G>C (p.Ala222=)
c.*727G>C (n.*727G>C)
c.789G>C (p.Ala263=)
c.251+8159G>C
c.819G>C (p.Ala273=)
c.*826G>C (n.*826G>C)
c.675G>C (p.Ala225=)
c.783G>C (p.Ala261=)
c.738G>C (p.Ala246=)
 dbSNP
17g.6425760C>TCA287323938AIPL1c.855G>A (p.Ala285=)
c.666G>A (p.Ala222=)
c.*727G>A (n.*727G>A)
c.789G>A (p.Ala263=)
c.251+8159G>A
c.819G>A (p.Ala273=)
c.*826G>A (n.*826G>A)
c.675G>A (p.Ala225=)
c.783G>A (p.Ala261=)
c.738G>A (p.Ala246=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425761G>ACA397394783AIPL1c.854C>T (p.Ala285Val)
c.665C>T (p.Ala222Val)
c.*726C>T (n.*726C>T)
c.788C>T (p.Ala263Val)
c.251+8158C>T
c.818C>T (p.Ala273Val)
c.*825C>T (n.*825C>T)
c.674C>T (p.Ala225Val)
c.782C>T (p.Ala261Val)
c.737C>T (p.Ala246Val)
 dbSNP gnomAD v2 gnomAD v4
17g.6425761G>CCA397394784AIPL1c.854C>G (p.Ala285Gly)
c.665C>G (p.Ala222Gly)
c.*726C>G (n.*726C>G)
c.788C>G (p.Ala263Gly)
c.251+8158C>G
c.818C>G (p.Ala273Gly)
c.*825C>G (n.*825C>G)
c.674C>G (p.Ala225Gly)
c.782C>G (p.Ala261Gly)
c.737C>G (p.Ala246Gly)
17g.6425761G=CA2245347046AIPL1c.854C= (p.Ala285=)
c.665C= (p.Ala222=)
c.*726C= (n.*726C=)
c.788C= (p.Ala263=)
c.251+8158C=
c.818C= (p.Ala273=)
c.*825C= (n.*825C=)
c.674C= (p.Ala225=)
c.782C= (p.Ala261=)
c.737C= (p.Ala246=)
17g.6425761G>TCA8328368AIPL1c.854C>A (p.Ala285Glu)
c.665C>A (p.Ala222Glu)
c.*726C>A (n.*726C>A)
c.788C>A (p.Ala263Glu)
c.251+8158C>A
c.818C>A (p.Ala273Glu)
c.*825C>A (n.*825C>A)
c.674C>A (p.Ala225Glu)
c.782C>A (p.Ala261Glu)
c.737C>A (p.Ala246Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425761_6425762delinsTTCA2499224830AIPL1c.853_854delinsAA (p.Ala285Lys)
c.664_665delinsAA (p.Ala222Lys)
c.*725_*726delinsAA (n.*725_*726delinsAA)
c.787_788delinsAA (p.Ala263Lys)
c.251+8157_251+8158delinsAA
c.817_818delinsAA (p.Ala273Lys)
c.*824_*825delinsAA (n.*824_*825delinsAA)
c.673_674delinsAA (p.Ala225Lys)
c.781_782delinsAA (p.Ala261Lys)
c.736_737delinsAA (p.Ala246Lys)
 ClinVar dbSNP
17g.6425762C>ACA397394785AIPL1c.853G>T (p.Ala285Ser)
c.664G>T (p.Ala222Ser)
c.*725G>T (n.*725G>T)
c.787G>T (p.Ala263Ser)
c.251+8157G>T
c.817G>T (p.Ala273Ser)
c.*824G>T (n.*824G>T)
c.673G>T (p.Ala225Ser)
c.781G>T (p.Ala261Ser)
c.736G>T (p.Ala246Ser)
17g.6425762C=CA2245347050AIPL1c.853G= (p.Ala285=)
c.664G= (p.Ala222=)
c.*725G= (n.*725G=)
c.787G= (p.Ala263=)
c.251+8157G=
c.817G= (p.Ala273=)
c.*824G= (n.*824G=)
c.673G= (p.Ala225=)
c.781G= (p.Ala261=)
c.736G= (p.Ala246=)
17g.6425762C>GCA397394786AIPL1c.853G>C (p.Ala285Pro)
c.664G>C (p.Ala222Pro)
c.*725G>C (n.*725G>C)
c.787G>C (p.Ala263Pro)
c.251+8157G>C
c.817G>C (p.Ala273Pro)
c.*824G>C (n.*824G>C)
c.673G>C (p.Ala225Pro)
c.781G>C (p.Ala261Pro)
c.736G>C (p.Ala246Pro)
17g.6425762C>TCA8328369AIPL1c.853G>A (p.Ala285Thr)
c.664G>A (p.Ala222Thr)
c.*725G>A (n.*725G>A)
c.787G>A (p.Ala263Thr)
c.251+8157G>A
c.817G>A (p.Ala273Thr)
c.*824G>A (n.*824G>A)
c.673G>A (p.Ala225Thr)
c.781G>A (p.Ala261Thr)
c.736G>A (p.Ala246Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425763C>ACA397394787AIPL1c.852G>T (p.Lys284Asn)
c.663G>T (p.Lys221Asn)
c.*724G>T (n.*724G>T)
c.786G>T (p.Lys262Asn)
c.251+8156G>T
c.816G>T (p.Lys272Asn)
c.*823G>T (n.*823G>T)
c.672G>T (p.Lys224Asn)
c.780G>T (p.Lys260Asn)
c.735G>T (p.Lys245Asn)
17g.6425763C=CA2245347052AIPL1c.852G= (p.Lys284=)
c.663G= (p.Lys221=)
c.*724G= (n.*724G=)
c.786G= (p.Lys262=)
c.251+8156G=
c.816G= (p.Lys272=)
c.*823G= (n.*823G=)
c.672G= (p.Lys224=)
c.780G= (p.Lys260=)
c.735G= (p.Lys245=)
17g.6425763C>GCA397394788AIPL1c.852G>C (p.Lys284Asn)
c.663G>C (p.Lys221Asn)
c.*724G>C (n.*724G>C)
c.786G>C (p.Lys262Asn)
c.251+8156G>C
c.816G>C (p.Lys272Asn)
c.*823G>C (n.*823G>C)
c.672G>C (p.Lys224Asn)
c.780G>C (p.Lys260Asn)
c.735G>C (p.Lys245Asn)
17g.6425763C>TCA497687445AIPL1c.852G>A (p.Lys284=)
c.663G>A (p.Lys221=)
c.*724G>A (n.*724G>A)
c.786G>A (p.Lys262=)
c.251+8156G>A
c.816G>A (p.Lys272=)
c.*823G>A (n.*823G>A)
c.672G>A (p.Lys224=)
c.780G>A (p.Lys260=)
c.735G>A (p.Lys245=)
 dbSNP gnomAD v4
17g.6425764T>ACA397394789AIPL1c.851A>T (p.Lys284Met)
c.662A>T (p.Lys221Met)
c.*723A>T (n.*723A>T)
c.785A>T (p.Lys262Met)
c.251+8155A>T
c.815A>T (p.Lys272Met)
c.*822A>T (n.*822A>T)
c.671A>T (p.Lys224Met)
c.779A>T (p.Lys260Met)
c.734A>T (p.Lys245Met)
17g.6425764T>CCA397394790AIPL1c.851A>G (p.Lys284Arg)
c.662A>G (p.Lys221Arg)
c.*723A>G (n.*723A>G)
c.785A>G (p.Lys262Arg)
c.251+8155A>G
c.815A>G (p.Lys272Arg)
c.*822A>G (n.*822A>G)
c.671A>G (p.Lys224Arg)
c.779A>G (p.Lys260Arg)
c.734A>G (p.Lys245Arg)
17g.6425764T>GCA397394791AIPL1c.851A>C (p.Lys284Thr)
c.662A>C (p.Lys221Thr)
c.*723A>C (n.*723A>C)
c.785A>C (p.Lys262Thr)
c.251+8155A>C
c.815A>C (p.Lys272Thr)
c.*822A>C (n.*822A>C)
c.671A>C (p.Lys224Thr)
c.779A>C (p.Lys260Thr)
c.734A>C (p.Lys245Thr)
17g.6425765delCA2635688841AIPL1c.851del (p.Lys284ArgfsTer22)
c.662del (p.Lys221ArgfsTer22)
c.*723del (n.*723del)
c.785del (p.Lys262ArgfsTer22)
c.251+8155del
c.815del (p.Lys272ArgfsTer22)
c.*822del (n.*822del)
c.671del (p.Lys224ArgfsTer22)
c.779del (p.Lys260ArgfsTer22)
c.734del (p.Lys245ArgfsTer22)
 gnomAD v4
17g.6425765T>ACA397394792AIPL1c.850A>T (p.Lys284Ter)
c.661A>T (p.Lys221Ter)
c.*722A>T (n.*722A>T)
c.784A>T (p.Lys262Ter)
c.251+8154A>T
c.814A>T (p.Lys272Ter)
c.*821A>T (n.*821A>T)
c.670A>T (p.Lys224Ter)
c.778A>T (p.Lys260Ter)
c.733A>T (p.Lys245Ter)
17g.6425765T>CCA397394793AIPL1c.850A>G (p.Lys284Glu)
c.661A>G (p.Lys221Glu)
c.*722A>G (n.*722A>G)
c.784A>G (p.Lys262Glu)
c.251+8154A>G
c.814A>G (p.Lys272Glu)
c.*821A>G (n.*821A>G)
c.670A>G (p.Lys224Glu)
c.778A>G (p.Lys260Glu)
c.733A>G (p.Lys245Glu)
17g.6425765T>GCA397394794AIPL1c.850A>C (p.Lys284Gln)
c.661A>C (p.Lys221Gln)
c.*722A>C (n.*722A>C)
c.784A>C (p.Lys262Gln)
c.251+8154A>C
c.814A>C (p.Lys272Gln)
c.*821A>C (n.*821A>C)
c.670A>C (p.Lys224Gln)
c.778A>C (p.Lys260Gln)
c.733A>C (p.Lys245Gln)
17g.6425766G>ACA497687448AIPL1c.849C>T (p.Ala283=)
c.660C>T (p.Ala220=)
c.*721C>T (n.*721C>T)
c.783C>T (p.Ala261=)
c.251+8153C>T
c.813C>T (p.Ala271=)
c.*820C>T (n.*820C>T)
c.669C>T (p.Ala223=)
c.777C>T (p.Ala259=)
c.732C>T (p.Ala244=)
17g.6425766G>CCA497687447AIPL1c.849C>G (p.Ala283=)
c.660C>G (p.Ala220=)
c.*721C>G (n.*721C>G)
c.783C>G (p.Ala261=)
c.251+8153C>G
c.813C>G (p.Ala271=)
c.*820C>G (n.*820C>G)
c.669C>G (p.Ala223=)
c.777C>G (p.Ala259=)
c.732C>G (p.Ala244=)
 gnomAD v4
17g.6425766G>TCA497687446AIPL1c.849C>A (p.Ala283=)
c.660C>A (p.Ala220=)
c.*721C>A (n.*721C>A)
c.783C>A (p.Ala261=)
c.251+8153C>A
c.813C>A (p.Ala271=)
c.*820C>A (n.*820C>A)
c.669C>A (p.Ala223=)
c.777C>A (p.Ala259=)
c.732C>A (p.Ala244=)
 gnomAD v4
17g.6425772_6425777dupCA2635688842AIPL1c.844_849dup (p.Ala283_Lys284insGluAla)
c.655_660dup (p.Ala220_Lys221insGluAla)
c.*716_*721dup (n.*716_*721dup)
c.778_783dup (p.Ala261_Lys262insGluAla)
c.251+8148_251+8153dup
c.808_813dup (p.Ala271_Lys272insGluAla)
c.*815_*820dup (n.*815_*820dup)
c.664_669dup (p.Ala223_Lys224insGluAla)
c.772_777dup (p.Ala259_Lys260insGluAla)
c.727_732dup (p.Ala244_Lys245insGluAla)
 gnomAD v4
17g.6425772_6425777delCA2635688843AIPL1c.844_849del (p.Glu282_Ala283del)
c.655_660del (p.Glu219_Ala220del)
c.*716_*721del (n.*716_*721del)
c.778_783del (p.Glu260_Ala261del)
c.251+8148_251+8153del
c.808_813del (p.Glu270_Ala271del)
c.*815_*820del (n.*815_*820del)
c.664_669del (p.Glu222_Ala223del)
c.772_777del (p.Glu258_Ala259del)
c.727_732del (p.Glu243_Ala244del)
 gnomAD v4
17g.6425767G>ACA397394797AIPL1c.848C>T (p.Ala283Val)
c.659C>T (p.Ala220Val)
c.*720C>T (n.*720C>T)
c.782C>T (p.Ala261Val)
c.251+8152C>T
c.812C>T (p.Ala271Val)
c.*819C>T (n.*819C>T)
c.668C>T (p.Ala223Val)
c.776C>T (p.Ala259Val)
c.731C>T (p.Ala244Val)
 gnomAD v4
17g.6425767G>CCA397394795AIPL1c.848C>G (p.Ala283Gly)
c.659C>G (p.Ala220Gly)
c.*720C>G (n.*720C>G)
c.782C>G (p.Ala261Gly)
c.251+8152C>G
c.812C>G (p.Ala271Gly)
c.*819C>G (n.*819C>G)
c.668C>G (p.Ala223Gly)
c.776C>G (p.Ala259Gly)
c.731C>G (p.Ala244Gly)
17g.6425767G>TCA397394796AIPL1c.848C>A (p.Ala283Asp)
c.659C>A (p.Ala220Asp)
c.*720C>A (n.*720C>A)
c.782C>A (p.Ala261Asp)
c.251+8152C>A
c.812C>A (p.Ala271Asp)
c.*819C>A (n.*819C>A)
c.668C>A (p.Ala223Asp)
c.776C>A (p.Ala259Asp)
c.731C>A (p.Ala244Asp)
 gnomAD v4
17g.6425768C>ACA397394798AIPL1c.847G>T (p.Ala283Ser)
c.658G>T (p.Ala220Ser)
c.*719G>T (n.*719G>T)
c.781G>T (p.Ala261Ser)
c.251+8151G>T
c.811G>T (p.Ala271Ser)
c.*818G>T (n.*818G>T)
c.667G>T (p.Ala223Ser)
c.775G>T (p.Ala259Ser)
c.730G>T (p.Ala244Ser)
17g.6425768C=CA2245347054AIPL1c.847G= (p.Ala283=)
c.658G= (p.Ala220=)
c.*719G= (n.*719G=)
c.781G= (p.Ala261=)
c.251+8151G=
c.811G= (p.Ala271=)
c.*818G= (n.*818G=)
c.667G= (p.Ala223=)
c.775G= (p.Ala259=)
c.730G= (p.Ala244=)
17g.6425768C>GCA397394799AIPL1c.847G>C (p.Ala283Pro)
c.658G>C (p.Ala220Pro)
c.*719G>C (n.*719G>C)
c.781G>C (p.Ala261Pro)
c.251+8151G>C
c.811G>C (p.Ala271Pro)
c.*818G>C (n.*818G>C)
c.667G>C (p.Ala223Pro)
c.775G>C (p.Ala259Pro)
c.730G>C (p.Ala244Pro)
17g.6425768C>TCA397394800AIPL1c.847G>A (p.Ala283Thr)
c.658G>A (p.Ala220Thr)
c.*719G>A (n.*719G>A)
c.781G>A (p.Ala261Thr)
c.251+8151G>A
c.811G>A (p.Ala271Thr)
c.*818G>A (n.*818G>A)
c.667G>A (p.Ala223Thr)
c.775G>A (p.Ala259Thr)
c.730G>A (p.Ala244Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.6425769C>ACA397394801AIPL1c.846G>T (p.Glu282Asp)
c.657G>T (p.Glu219Asp)
c.*718G>T (n.*718G>T)
c.780G>T (p.Glu260Asp)
c.251+8150G>T
c.810G>T (p.Glu270Asp)
c.*817G>T (n.*817G>T)
c.666G>T (p.Glu222Asp)
c.774G>T (p.Glu258Asp)
c.729G>T (p.Glu243Asp)
17g.6425769C>GCA397394802AIPL1c.846G>C (p.Glu282Asp)
c.657G>C (p.Glu219Asp)
c.*718G>C (n.*718G>C)
c.780G>C (p.Glu260Asp)
c.251+8150G>C
c.810G>C (p.Glu270Asp)
c.*817G>C (n.*817G>C)
c.666G>C (p.Glu222Asp)
c.774G>C (p.Glu258Asp)
c.729G>C (p.Glu243Asp)
17g.6425769C>TCA497687449AIPL1c.846G>A (p.Glu282=)
c.657G>A (p.Glu219=)
c.*718G>A (n.*718G>A)
c.780G>A (p.Glu260=)
c.251+8150G>A
c.810G>A (p.Glu270=)
c.*817G>A (n.*817G>A)
c.666G>A (p.Glu222=)
c.774G>A (p.Glu258=)
c.729G>A (p.Glu243=)
 gnomAD v4
17g.6425770T>ACA397394803AIPL1c.845A>T (p.Glu282Val)
c.656A>T (p.Glu219Val)
c.*717A>T (n.*717A>T)
c.779A>T (p.Glu260Val)
c.251+8149A>T
c.809A>T (p.Glu270Val)
c.*816A>T (n.*816A>T)
c.665A>T (p.Glu222Val)
c.773A>T (p.Glu258Val)
c.728A>T (p.Glu243Val)
17g.6425770T>CCA397394805AIPL1c.845A>G (p.Glu282Gly)
c.656A>G (p.Glu219Gly)
c.*717A>G (n.*717A>G)
c.779A>G (p.Glu260Gly)
c.251+8149A>G
c.809A>G (p.Glu270Gly)
c.*816A>G (n.*816A>G)
c.665A>G (p.Glu222Gly)
c.773A>G (p.Glu258Gly)
c.728A>G (p.Glu243Gly)
17g.6425770T>GCA397394804AIPL1c.845A>C (p.Glu282Ala)
c.656A>C (p.Glu219Ala)
c.*717A>C (n.*717A>C)
c.779A>C (p.Glu260Ala)
c.251+8149A>C
c.809A>C (p.Glu270Ala)
c.*816A>C (n.*816A>C)
c.665A>C (p.Glu222Ala)
c.773A>C (p.Glu258Ala)
c.728A>C (p.Glu243Ala)
17g.6425771C>ACA287323941AIPL1c.844G>T (p.Glu282Ter)
c.655G>T (p.Glu219Ter)
c.*716G>T (n.*716G>T)
c.778G>T (p.Glu260Ter)
c.251+8148G>T
c.808G>T (p.Glu270Ter)
c.*815G>T (n.*815G>T)
c.664G>T (p.Glu222Ter)
c.772G>T (p.Glu258Ter)
c.727G>T (p.Glu243Ter)
 dbSNP
17g.6425771C=CA2245347057AIPL1c.844G= (p.Glu282=)
c.655G= (p.Glu219=)
c.*716G= (n.*716G=)
c.778G= (p.Glu260=)
c.251+8148G=
c.808G= (p.Glu270=)
c.*815G= (n.*815G=)
c.664G= (p.Glu222=)
c.772G= (p.Glu258=)
c.727G= (p.Glu243=)
17g.6425771C>GCA397394806AIPL1c.844G>C (p.Glu282Gln)
c.655G>C (p.Glu219Gln)
c.*716G>C (n.*716G>C)
c.778G>C (p.Glu260Gln)
c.251+8148G>C
c.808G>C (p.Glu270Gln)
c.*815G>C (n.*815G>C)
c.664G>C (p.Glu222Gln)
c.772G>C (p.Glu258Gln)
c.727G>C (p.Glu243Gln)
17g.6425771C>TCA8328370AIPL1c.844G>A (p.Glu282Lys)
c.655G>A (p.Glu219Lys)
c.*716G>A (n.*716G>A)
c.778G>A (p.Glu260Lys)
c.251+8148G>A
c.808G>A (p.Glu270Lys)
c.*815G>A (n.*815G>A)
c.664G>A (p.Glu222Lys)
c.772G>A (p.Glu258Lys)
c.727G>A (p.Glu243Lys)
 dbSNP ExAC gnomAD v4
17g.6425772_6425775delCA2808334537AIPL1c.841_844del (p.Ala281ArgfsTer24)
c.652_655del (p.Ala218ArgfsTer24)
c.*713_*716del (n.*713_*716del)
c.775_778del (p.Ala259ArgfsTer24)
c.251+8145_251+8148del
c.805_808del (p.Ala269ArgfsTer24)
c.*812_*815del (n.*812_*815del)
c.661_664del (p.Ala221ArgfsTer24)
c.769_772del (p.Ala257ArgfsTer24)
c.724_727del (p.Ala242ArgfsTer24)
17g.6425772G>ACA497687450AIPL1c.843C>T (p.Ala281=)
c.654C>T (p.Ala218=)
c.*715C>T (n.*715C>T)
c.777C>T (p.Ala259=)
c.251+8147C>T
c.807C>T (p.Ala269=)
c.*814C>T (n.*814C>T)
c.663C>T (p.Ala221=)
c.771C>T (p.Ala257=)
c.726C>T (p.Ala242=)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.6425772G>CCA497687451AIPL1c.843C>G (p.Ala281=)
c.654C>G (p.Ala218=)
c.*715C>G (n.*715C>G)
c.777C>G (p.Ala259=)
c.251+8147C>G
c.807C>G (p.Ala269=)
c.*814C>G (n.*814C>G)
c.663C>G (p.Ala221=)
c.771C>G (p.Ala257=)
c.726C>G (p.Ala242=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.6425772G=CA2245347058AIPL1c.843C= (p.Ala281=)
c.654C= (p.Ala218=)
c.*715C= (n.*715C=)
c.777C= (p.Ala259=)
c.251+8147C=
c.807C= (p.Ala269=)
c.*814C= (n.*814C=)
c.663C= (p.Ala221=)
c.771C= (p.Ala257=)
c.726C= (p.Ala242=)
17g.6425772G>TCA497687452AIPL1c.843C>A (p.Ala281=)
c.654C>A (p.Ala218=)
c.*715C>A (n.*715C>A)
c.777C>A (p.Ala259=)
c.251+8147C>A
c.807C>A (p.Ala269=)
c.*814C>A (n.*814C>A)
c.663C>A (p.Ala221=)
c.771C>A (p.Ala257=)
c.726C>A (p.Ala242=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425773G>ACA397394807AIPL1c.842C>T (p.Ala281Val)
c.653C>T (p.Ala218Val)
c.*714C>T (n.*714C>T)
c.776C>T (p.Ala259Val)
c.251+8146C>T
c.806C>T (p.Ala269Val)
c.*813C>T (n.*813C>T)
c.662C>T (p.Ala221Val)
c.770C>T (p.Ala257Val)
c.725C>T (p.Ala242Val)
 dbSNP gnomAD v4 COSMIC
17g.6425773G>CCA397394808AIPL1c.842C>G (p.Ala281Gly)
c.653C>G (p.Ala218Gly)
c.*714C>G (n.*714C>G)
c.776C>G (p.Ala259Gly)
c.251+8146C>G
c.806C>G (p.Ala269Gly)
c.*813C>G (n.*813C>G)
c.662C>G (p.Ala221Gly)
c.770C>G (p.Ala257Gly)
c.725C>G (p.Ala242Gly)
17g.6425773G=CA2245347061AIPL1c.842C= (p.Ala281=)
c.653C= (p.Ala218=)
c.*714C= (n.*714C=)
c.776C= (p.Ala259=)
c.251+8146C=
c.806C= (p.Ala269=)
c.*813C= (n.*813C=)
c.662C= (p.Ala221=)
c.770C= (p.Ala257=)
c.725C= (p.Ala242=)
17g.6425773G>TCA397394809AIPL1c.842C>A (p.Ala281Asp)
c.653C>A (p.Ala218Asp)
c.*714C>A (n.*714C>A)
c.776C>A (p.Ala259Asp)
c.251+8146C>A
c.806C>A (p.Ala269Asp)
c.*813C>A (n.*813C>A)
c.662C>A (p.Ala221Asp)
c.770C>A (p.Ala257Asp)
c.725C>A (p.Ala242Asp)
 gnomAD v4
17g.6425774C>ACA397394810AIPL1c.841G>T (p.Ala281Ser)
c.652G>T (p.Ala218Ser)
c.*713G>T (n.*713G>T)
c.775G>T (p.Ala259Ser)
c.251+8145G>T
c.805G>T (p.Ala269Ser)
c.*812G>T (n.*812G>T)
c.661G>T (p.Ala221Ser)
c.769G>T (p.Ala257Ser)
c.724G>T (p.Ala242Ser)
 gnomAD v4
17g.6425774C=CA2245347063AIPL1c.841G= (p.Ala281=)
c.652G= (p.Ala218=)
c.*713G= (n.*713G=)
c.775G= (p.Ala259=)
c.251+8145G=
c.805G= (p.Ala269=)
c.*812G= (n.*812G=)
c.661G= (p.Ala221=)
c.769G= (p.Ala257=)
c.724G= (p.Ala242=)
17g.6425774C>GCA397394811AIPL1c.841G>C (p.Ala281Pro)
c.652G>C (p.Ala218Pro)
c.*713G>C (n.*713G>C)
c.775G>C (p.Ala259Pro)
c.251+8145G>C
c.805G>C (p.Ala269Pro)
c.*812G>C (n.*812G>C)
c.661G>C (p.Ala221Pro)
c.769G>C (p.Ala257Pro)
c.724G>C (p.Ala242Pro)
17g.6425774C>TCA397394812AIPL1c.841G>A (p.Ala281Thr)
c.652G>A (p.Ala218Thr)
c.*713G>A (n.*713G>A)
c.775G>A (p.Ala259Thr)
c.251+8145G>A
c.805G>A (p.Ala269Thr)
c.*812G>A (n.*812G>A)
c.661G>A (p.Ala221Thr)
c.769G>A (p.Ala257Thr)
c.724G>A (p.Ala242Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.6425775C>ACA397394813AIPL1c.840G>T (p.Glu280Asp)
c.651G>T (p.Glu217Asp)
c.*712G>T (n.*712G>T)
c.774G>T (p.Glu258Asp)
c.251+8144G>T
c.804G>T (p.Glu268Asp)
c.*811G>T (n.*811G>T)
c.660G>T (p.Glu220Asp)
c.768G>T (p.Glu256Asp)
c.723G>T (p.Glu241Asp)
17g.6425775C=CA2245347065AIPL1c.840G= (p.Glu280=)
c.651G= (p.Glu217=)
c.*712G= (n.*712G=)
c.774G= (p.Glu258=)
c.251+8144G=
c.804G= (p.Glu268=)
c.*811G= (n.*811G=)
c.660G= (p.Glu220=)
c.768G= (p.Glu256=)
c.723G= (p.Glu241=)
17g.6425775C>GCA397394814AIPL1c.840G>C (p.Glu280Asp)
c.651G>C (p.Glu217Asp)
c.*712G>C (n.*712G>C)
c.774G>C (p.Glu258Asp)
c.251+8144G>C
c.804G>C (p.Glu268Asp)
c.*811G>C (n.*811G>C)
c.660G>C (p.Glu220Asp)
c.768G>C (p.Glu256Asp)
c.723G>C (p.Glu241Asp)
 dbSNP gnomAD v4
17g.6425775C>TCA497687453AIPL1c.840G>A (p.Glu280=)
c.651G>A (p.Glu217=)
c.*712G>A (n.*712G>A)
c.774G>A (p.Glu258=)
c.251+8144G>A
c.804G>A (p.Glu268=)
c.*811G>A (n.*811G>A)
c.660G>A (p.Glu220=)
c.768G>A (p.Glu256=)
c.723G>A (p.Glu241=)
 gnomAD v4
17g.6425776T>ACA397394816AIPL1c.839A>T (p.Glu280Val)
c.650A>T (p.Glu217Val)
c.*711A>T (n.*711A>T)
c.773A>T (p.Glu258Val)
c.251+8143A>T
c.803A>T (p.Glu268Val)
c.*810A>T (n.*810A>T)
c.659A>T (p.Glu220Val)
c.767A>T (p.Glu256Val)
c.722A>T (p.Glu241Val)
17g.6425776T>CCA397394817AIPL1c.839A>G (p.Glu280Gly)
c.650A>G (p.Glu217Gly)
c.*711A>G (n.*711A>G)
c.773A>G (p.Glu258Gly)
c.251+8143A>G
c.803A>G (p.Glu268Gly)
c.*810A>G (n.*810A>G)
c.659A>G (p.Glu220Gly)
c.767A>G (p.Glu256Gly)
c.722A>G (p.Glu241Gly)
 gnomAD v4
17g.6425776T>GCA397394815AIPL1c.839A>C (p.Glu280Ala)
c.650A>C (p.Glu217Ala)
c.*711A>C (n.*711A>C)
c.773A>C (p.Glu258Ala)
c.251+8143A>C
c.803A>C (p.Glu268Ala)
c.*810A>C (n.*810A>C)
c.659A>C (p.Glu220Ala)
c.767A>C (p.Glu256Ala)
c.722A>C (p.Glu241Ala)
17g.6425777C>ACA397394820AIPL1c.838G>T (p.Glu280Ter)
c.649G>T (p.Glu217Ter)
c.*710G>T (n.*710G>T)
c.772G>T (p.Glu258Ter)
c.251+8142G>T
c.802G>T (p.Glu268Ter)
c.*809G>T (n.*809G>T)
c.658G>T (p.Glu220Ter)
c.766G>T (p.Glu256Ter)
c.721G>T (p.Glu241Ter)
17g.6425777C>GCA397394818AIPL1c.838G>C (p.Glu280Gln)
c.649G>C (p.Glu217Gln)
c.*710G>C (n.*710G>C)
c.772G>C (p.Glu258Gln)
c.251+8142G>C
c.802G>C (p.Glu268Gln)
c.*809G>C (n.*809G>C)
c.658G>C (p.Glu220Gln)
c.766G>C (p.Glu256Gln)
c.721G>C (p.Glu241Gln)
17g.6425777C>TCA397394819AIPL1c.838G>A (p.Glu280Lys)
c.649G>A (p.Glu217Lys)
c.*710G>A (n.*710G>A)
c.772G>A (p.Glu258Lys)
c.251+8142G>A
c.802G>A (p.Glu268Lys)
c.*809G>A (n.*809G>A)
c.658G>A (p.Glu220Lys)
c.766G>A (p.Glu256Lys)
c.721G>A (p.Glu241Lys)
17g.6425778A>CCA397394821AIPL1c.837T>G (p.Asn279Lys)
c.648T>G (p.Asn216Lys)
c.*709T>G (n.*709T>G)
c.771T>G (p.Asn257Lys)
c.251+8141T>G
c.801T>G (p.Asn267Lys)
c.*808T>G (n.*808T>G)
c.657T>G (p.Asn219Lys)
c.765T>G (p.Asn255Lys)
c.720T>G (p.Asn240Lys)
17g.6425778A>GCA497687454AIPL1c.837T>C (p.Asn279=)
c.648T>C (p.Asn216=)
c.*709T>C (n.*709T>C)
c.771T>C (p.Asn257=)
c.251+8141T>C
c.801T>C (p.Asn267=)
c.*808T>C (n.*808T>C)
c.657T>C (p.Asn219=)
c.765T>C (p.Asn255=)
c.720T>C (p.Asn240=)
17g.6425778A>TCA397394822AIPL1c.837T>A (p.Asn279Lys)
c.648T>A (p.Asn216Lys)
c.*709T>A (n.*709T>A)
c.771T>A (p.Asn257Lys)
c.251+8141T>A
c.801T>A (p.Asn267Lys)
c.*808T>A (n.*808T>A)
c.657T>A (p.Asn219Lys)
c.765T>A (p.Asn255Lys)
c.720T>A (p.Asn240Lys)
17g.6425779T>ACA397394823AIPL1c.836A>T (p.Asn279Ile)
c.647A>T (p.Asn216Ile)
c.*708A>T (n.*708A>T)
c.770A>T (p.Asn257Ile)
c.251+8140A>T
c.800A>T (p.Asn267Ile)
c.*807A>T (n.*807A>T)
c.656A>T (p.Asn219Ile)
c.764A>T (p.Asn255Ile)
c.719A>T (p.Asn240Ile)
17g.6425779T>CCA397394824AIPL1c.836A>G (p.Asn279Ser)
c.647A>G (p.Asn216Ser)
c.*708A>G (n.*708A>G)
c.770A>G (p.Asn257Ser)
c.251+8140A>G
c.800A>G (p.Asn267Ser)
c.*807A>G (n.*807A>G)
c.656A>G (p.Asn219Ser)
c.764A>G (p.Asn255Ser)
c.719A>G (p.Asn240Ser)
17g.6425779T>GCA397394825AIPL1c.836A>C (p.Asn279Thr)
c.647A>C (p.Asn216Thr)
c.*708A>C (n.*708A>C)
c.770A>C (p.Asn257Thr)
c.251+8140A>C
c.800A>C (p.Asn267Thr)
c.*807A>C (n.*807A>C)
c.656A>C (p.Asn219Thr)
c.764A>C (p.Asn255Thr)
c.719A>C (p.Asn240Thr)
17g.6425780T>ACA397394826AIPL1c.835A>T (p.Asn279Tyr)
c.646A>T (p.Asn216Tyr)
c.*707A>T (n.*707A>T)
c.769A>T (p.Asn257Tyr)
c.251+8139A>T
c.799A>T (p.Asn267Tyr)
c.*806A>T (n.*806A>T)
c.655A>T (p.Asn219Tyr)
c.763A>T (p.Asn255Tyr)
c.718A>T (p.Asn240Tyr)
17g.6425780T>CCA397394827AIPL1c.835A>G (p.Asn279Asp)
c.646A>G (p.Asn216Asp)
c.*707A>G (n.*707A>G)
c.769A>G (p.Asn257Asp)
c.251+8139A>G
c.799A>G (p.Asn267Asp)
c.*806A>G (n.*806A>G)
c.655A>G (p.Asn219Asp)
c.763A>G (p.Asn255Asp)
c.718A>G (p.Asn240Asp)
17g.6425780T>GCA397394828AIPL1c.835A>C (p.Asn279His)
c.646A>C (p.Asn216His)
c.*707A>C (n.*707A>C)
c.769A>C (p.Asn257His)
c.251+8139A>C
c.799A>C (p.Asn267His)
c.*806A>C (n.*806A>C)
c.655A>C (p.Asn219His)
c.763A>C (p.Asn255His)
c.718A>C (p.Asn240His)
 gnomAD v4
17g.6425781C>ACA397394829AIPL1c.834G>T (p.Trp278Cys)
c.645G>T (p.Trp215Cys)
c.*706G>T (n.*706G>T)
c.768G>T (p.Trp256Cys)
c.251+8138G>T
c.798G>T (p.Trp266Cys)
c.*805G>T (n.*805G>T)
c.654G>T (p.Trp218Cys)
c.762G>T (p.Trp254Cys)
c.717G>T (p.Trp239Cys)
17g.6425781C=CA2245347067AIPL1c.834G= (p.Trp278=)
c.645G= (p.Trp215=)
c.*706G= (n.*706G=)
c.768G= (p.Trp256=)
c.251+8138G=
c.798G= (p.Trp266=)
c.*805G= (n.*805G=)
c.654G= (p.Trp218=)
c.762G= (p.Trp254=)
c.717G= (p.Trp239=)
17g.6425781C>GCA397394830AIPL1c.834G>C (p.Trp278Cys)
c.645G>C (p.Trp215Cys)
c.*706G>C (n.*706G>C)
c.768G>C (p.Trp256Cys)
c.251+8138G>C
c.798G>C (p.Trp266Cys)
c.*805G>C (n.*805G>C)
c.654G>C (p.Trp218Cys)
c.762G>C (p.Trp254Cys)
c.717G>C (p.Trp239Cys)
17g.6425781C>TCA227899AIPL1c.834G>A (p.Trp278Ter)
c.645G>A (p.Trp215Ter)
c.*706G>A (n.*706G>A)
c.768G>A (p.Trp256Ter)
c.251+8138G>A
c.798G>A (p.Trp266Ter)
c.*805G>A (n.*805G>A)
c.654G>A (p.Trp218Ter)
c.762G>A (p.Trp254Ter)
c.717G>A (p.Trp239Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched