Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6425622_6425652dupCA2573054547AIPL1c.963_993dup (p.Thr332AlafsTer?)
c.774_804dup (p.Thr269AlafsTer?)
c.*835_*865dup (n.*835_*865dup)
c.897_927dup (p.Thr310AlafsTer?)
c.251+8267_251+8297dup
c.927_957dup (p.Thr320AlafsTer?)
c.*934_*964dup (n.*934_*964dup)
c.783_813dup (p.Thr272AlafsTer?)
c.891_921dup (p.Thr308AlafsTer?)
c.962_*11dup (n.962_*11dup)
c.846_876dup (p.Thr293AlafsTer?)
 ClinVar dbSNP
17g.6425625A=CA2245346840AIPL1c.990T= (p.Gly330=)
c.801T= (p.Gly267=)
c.*862T= (n.*862T=)
c.924T= (p.Gly308=)
c.251+8294T=
c.954T= (p.Gly318=)
c.*961T= (n.*961T=)
c.810T= (p.Gly270=)
c.918T= (p.Gly306=)
c.*8T= (n.*8T=)
c.873T= (p.Gly291=)
17g.6425625A>CCA497687409AIPL1c.990T>G (p.Gly330=)
c.801T>G (p.Gly267=)
c.*862T>G (n.*862T>G)
c.924T>G (p.Gly308=)
c.251+8294T>G
c.954T>G (p.Gly318=)
c.*961T>G (n.*961T>G)
c.810T>G (p.Gly270=)
c.918T>G (p.Gly306=)
c.*8T>G (n.*8T>G)
c.873T>G (p.Gly291=)
17g.6425625A>GCA497687408AIPL1c.990T>C (p.Gly330=)
c.801T>C (p.Gly267=)
c.*862T>C (n.*862T>C)
c.924T>C (p.Gly308=)
c.251+8294T>C
c.954T>C (p.Gly318=)
c.*961T>C (n.*961T>C)
c.810T>C (p.Gly270=)
c.918T>C (p.Gly306=)
c.*8T>C (n.*8T>C)
c.873T>C (p.Gly291=)
 dbSNP
17g.6425625A>TCA497687406AIPL1c.990T>A (p.Gly330=)
c.801T>A (p.Gly267=)
c.*862T>A (n.*862T>A)
c.924T>A (p.Gly308=)
c.251+8294T>A
c.954T>A (p.Gly318=)
c.*961T>A (n.*961T>A)
c.810T>A (p.Gly270=)
c.918T>A (p.Gly306=)
c.*8T>A (n.*8T>A)
c.873T>A (p.Gly291=)
17g.6425626C>ACA397394476AIPL1c.989G>T (p.Gly330Val)
c.800G>T (p.Gly267Val)
c.*861G>T (n.*861G>T)
c.923G>T (p.Gly308Val)
c.251+8293G>T
c.953G>T (p.Gly318Val)
c.*960G>T (n.*960G>T)
c.809G>T (p.Gly270Val)
c.917G>T (p.Gly306Val)
c.*7G>T (n.*7G>T)
c.872G>T (p.Gly291Val)
17g.6425626C=CA2245346842AIPL1c.989G= (p.Gly330=)
c.800G= (p.Gly267=)
c.*861G= (n.*861G=)
c.923G= (p.Gly308=)
c.251+8293G=
c.953G= (p.Gly318=)
c.*960G= (n.*960G=)
c.809G= (p.Gly270=)
c.917G= (p.Gly306=)
c.*7G= (n.*7G=)
c.872G= (p.Gly291=)
17g.6425626C>GCA397394477AIPL1c.989G>C (p.Gly330Ala)
c.800G>C (p.Gly267Ala)
c.*861G>C (n.*861G>C)
c.923G>C (p.Gly308Ala)
c.251+8293G>C
c.953G>C (p.Gly318Ala)
c.*960G>C (n.*960G>C)
c.809G>C (p.Gly270Ala)
c.917G>C (p.Gly306Ala)
c.*7G>C (n.*7G>C)
c.872G>C (p.Gly291Ala)
17g.6425626C>TCA8328336AIPL1c.989G>A (p.Gly330Asp)
c.800G>A (p.Gly267Asp)
c.*861G>A (n.*861G>A)
c.923G>A (p.Gly308Asp)
c.251+8293G>A
c.953G>A (p.Gly318Asp)
c.*960G>A (n.*960G>A)
c.809G>A (p.Gly270Asp)
c.917G>A (p.Gly306Asp)
c.*7G>A (n.*7G>A)
c.872G>A (p.Gly291Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425627C>ACA397394478AIPL1c.988G>T (p.Gly330Cys)
c.799G>T (p.Gly267Cys)
c.*860G>T (n.*860G>T)
c.922G>T (p.Gly308Cys)
c.251+8292G>T
c.952G>T (p.Gly318Cys)
c.*959G>T (n.*959G>T)
c.808G>T (p.Gly270Cys)
c.916G>T (p.Gly306Cys)
c.*6G>T (n.*6G>T)
c.871G>T (p.Gly291Cys)
17g.6425627C=CA2245346845AIPL1c.988G= (p.Gly330=)
c.799G= (p.Gly267=)
c.*860G= (n.*860G=)
c.922G= (p.Gly308=)
c.251+8292G=
c.952G= (p.Gly318=)
c.*959G= (n.*959G=)
c.808G= (p.Gly270=)
c.916G= (p.Gly306=)
c.*6G= (n.*6G=)
c.871G= (p.Gly291=)
17g.6425627C>GCA397394479AIPL1c.988G>C (p.Gly330Arg)
c.799G>C (p.Gly267Arg)
c.*860G>C (n.*860G>C)
c.922G>C (p.Gly308Arg)
c.251+8292G>C
c.952G>C (p.Gly318Arg)
c.*959G>C (n.*959G>C)
c.808G>C (p.Gly270Arg)
c.916G>C (p.Gly306Arg)
c.*6G>C (n.*6G>C)
c.871G>C (p.Gly291Arg)
17g.6425627C>TCA8328337AIPL1c.988G>A (p.Gly330Ser)
c.799G>A (p.Gly267Ser)
c.*860G>A (n.*860G>A)
c.922G>A (p.Gly308Ser)
c.251+8292G>A
c.952G>A (p.Gly318Ser)
c.*959G>A (n.*959G>A)
c.808G>A (p.Gly270Ser)
c.916G>A (p.Gly306Ser)
c.*6G>A (n.*6G>A)
c.871G>A (p.Gly291Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425628C>ACA397394481AIPL1c.987G>T (p.Gln329His)
c.798G>T (p.Gln266His)
c.*859G>T (n.*859G>T)
c.921G>T (p.Gln307His)
c.251+8291G>T
c.951G>T (p.Gln317His)
c.*958G>T (n.*958G>T)
c.807G>T (p.Gln269His)
c.915G>T (p.Gln305His)
c.*5G>T (n.*5G>T)
c.870G>T (p.Gln290His)
17g.6425628C>GCA397394480AIPL1c.987G>C (p.Gln329His)
c.798G>C (p.Gln266His)
c.*859G>C (n.*859G>C)
c.921G>C (p.Gln307His)
c.251+8291G>C
c.951G>C (p.Gln317His)
c.*958G>C (n.*958G>C)
c.807G>C (p.Gln269His)
c.915G>C (p.Gln305His)
c.*5G>C (n.*5G>C)
c.870G>C (p.Gln290His)
17g.6425628C>TCA497687414AIPL1c.987G>A (p.Gln329=)
c.798G>A (p.Gln266=)
c.*859G>A (n.*859G>A)
c.921G>A (p.Gln307=)
c.251+8291G>A
c.951G>A (p.Gln317=)
c.*958G>A (n.*958G>A)
c.807G>A (p.Gln269=)
c.915G>A (p.Gln305=)
c.*5G>A (n.*5G>A)
c.870G>A (p.Gln290=)
17g.6425629T>ACA397394482AIPL1c.986A>T (p.Gln329Leu)
c.797A>T (p.Gln266Leu)
c.*858A>T (n.*858A>T)
c.920A>T (p.Gln307Leu)
c.251+8290A>T
c.950A>T (p.Gln317Leu)
c.*957A>T (n.*957A>T)
c.806A>T (p.Gln269Leu)
c.914A>T (p.Gln305Leu)
c.*4A>T (n.*4A>T)
c.869A>T (p.Gln290Leu)
17g.6425629T>CCA397394484AIPL1c.986A>G (p.Gln329Arg)
c.797A>G (p.Gln266Arg)
c.*858A>G (n.*858A>G)
c.920A>G (p.Gln307Arg)
c.251+8290A>G
c.950A>G (p.Gln317Arg)
c.*957A>G (n.*957A>G)
c.806A>G (p.Gln269Arg)
c.914A>G (p.Gln305Arg)
c.*4A>G (n.*4A>G)
c.869A>G (p.Gln290Arg)
 dbSNP
17g.6425629T>GCA397394483AIPL1c.986A>C (p.Gln329Pro)
c.797A>C (p.Gln266Pro)
c.*858A>C (n.*858A>C)
c.920A>C (p.Gln307Pro)
c.251+8290A>C
c.950A>C (p.Gln317Pro)
c.*957A>C (n.*957A>C)
c.806A>C (p.Gln269Pro)
c.914A>C (p.Gln305Pro)
c.*4A>C (n.*4A>C)
c.869A>C (p.Gln290Pro)
17g.6425629T=CA2245346848AIPL1c.986A= (p.Gln329=)
c.797A= (p.Gln266=)
c.*858A= (n.*858A=)
c.920A= (p.Gln307=)
c.251+8290A=
c.950A= (p.Gln317=)
c.*957A= (n.*957A=)
c.806A= (p.Gln269=)
c.914A= (p.Gln305=)
c.*4A= (n.*4A=)
c.869A= (p.Gln290=)
17g.6425630G>ACA397394485AIPL1c.985C>T (p.Gln329Ter)
c.796C>T (p.Gln266Ter)
c.*857C>T (n.*857C>T)
c.919C>T (p.Gln307Ter)
c.251+8289C>T
c.949C>T (p.Gln317Ter)
c.*956C>T (n.*956C>T)
c.805C>T (p.Gln269Ter)
c.913C>T (p.Gln305Ter)
c.*3C>T (n.*3C>T)
c.868C>T (p.Gln290Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425630G>CCA397394486AIPL1c.985C>G (p.Gln329Glu)
c.796C>G (p.Gln266Glu)
c.*857C>G (n.*857C>G)
c.919C>G (p.Gln307Glu)
c.251+8289C>G
c.949C>G (p.Gln317Glu)
c.*956C>G (n.*956C>G)
c.805C>G (p.Gln269Glu)
c.913C>G (p.Gln305Glu)
c.*3C>G (n.*3C>G)
c.868C>G (p.Gln290Glu)
17g.6425630G=CA2245346853AIPL1c.985C= (p.Gln329=)
c.796C= (p.Gln266=)
c.*857C= (n.*857C=)
c.919C= (p.Gln307=)
c.251+8289C=
c.949C= (p.Gln317=)
c.*956C= (n.*956C=)
c.805C= (p.Gln269=)
c.913C= (p.Gln305=)
c.*3C= (n.*3C=)
c.868C= (p.Gln290=)
17g.6425630G>TCA397394487AIPL1c.985C>A (p.Gln329Lys)
c.796C>A (p.Gln266Lys)
c.*857C>A (n.*857C>A)
c.919C>A (p.Gln307Lys)
c.251+8289C>A
c.949C>A (p.Gln317Lys)
c.*956C>A (n.*956C>A)
c.805C>A (p.Gln269Lys)
c.913C>A (p.Gln305Lys)
c.*3C>A (n.*3C>A)
c.868C>A (p.Gln290Lys)
 gnomAD v4 COSMIC
17g.6425631G>ACA497687417AIPL1c.984C>T (p.Ser328=)
c.795C>T (p.Ser265=)
c.*856C>T (n.*856C>T)
c.918C>T (p.Ser306=)
c.251+8288C>T
c.948C>T (p.Ser316=)
c.*955C>T (n.*955C>T)
c.804C>T (p.Ser268=)
c.912C>T (p.Ser304=)
c.*2C>T (n.*2C>T)
c.867C>T (p.Ser289=)
17g.6425631G>CCA397394488AIPL1c.984C>G (p.Ser328Arg)
c.795C>G (p.Ser265Arg)
c.*856C>G (n.*856C>G)
c.918C>G (p.Ser306Arg)
c.251+8288C>G
c.948C>G (p.Ser316Arg)
c.*955C>G (n.*955C>G)
c.804C>G (p.Ser268Arg)
c.912C>G (p.Ser304Arg)
c.*2C>G (n.*2C>G)
c.867C>G (p.Ser289Arg)
17g.6425631G>TCA397394489AIPL1c.984C>A (p.Ser328Arg)
c.795C>A (p.Ser265Arg)
c.*856C>A (n.*856C>A)
c.918C>A (p.Ser306Arg)
c.251+8288C>A
c.948C>A (p.Ser316Arg)
c.*955C>A (n.*955C>A)
c.804C>A (p.Ser268Arg)
c.912C>A (p.Ser304Arg)
c.*2C>A (n.*2C>A)
c.867C>A (p.Ser289Arg)
 gnomAD v4
17g.6425632C>ACA397394490AIPL1c.983G>T (p.Ser328Ile)
c.794G>T (p.Ser265Ile)
c.*855G>T (n.*855G>T)
c.917G>T (p.Ser306Ile)
c.251+8287G>T
c.947G>T (p.Ser316Ile)
c.*954G>T (n.*954G>T)
c.803G>T (p.Ser268Ile)
c.911G>T (p.Ser304Ile)
c.*1G>T (n.*1G>T)
c.866G>T (p.Ser289Ile)
 gnomAD v4
17g.6425632C=CA2245346858AIPL1c.983G= (p.Ser328=)
c.794G= (p.Ser265=)
c.*855G= (n.*855G=)
c.917G= (p.Ser306=)
c.251+8287G=
c.947G= (p.Ser316=)
c.*954G= (n.*954G=)
c.803G= (p.Ser268=)
c.911G= (p.Ser304=)
c.*1G= (n.*1G=)
c.866G= (p.Ser289=)
17g.6425632C>GCA397394491AIPL1c.983G>C (p.Ser328Thr)
c.794G>C (p.Ser265Thr)
c.*855G>C (n.*855G>C)
c.917G>C (p.Ser306Thr)
c.251+8287G>C
c.947G>C (p.Ser316Thr)
c.*954G>C (n.*954G>C)
c.803G>C (p.Ser268Thr)
c.911G>C (p.Ser304Thr)
c.*1G>C (n.*1G>C)
c.866G>C (p.Ser289Thr)
 ClinVar dbSNP
17g.6425632C>TCA397394492AIPL1c.983G>A (p.Ser328Asn)
c.794G>A (p.Ser265Asn)
c.*855G>A (n.*855G>A)
c.917G>A (p.Ser306Asn)
c.251+8287G>A
c.947G>A (p.Ser316Asn)
c.*954G>A (n.*954G>A)
c.803G>A (p.Ser268Asn)
c.911G>A (p.Ser304Asn)
c.*1G>A (n.*1G>A)
c.866G>A (p.Ser289Asn)
 gnomAD v4
17g.6425633T>ACA397394493AIPL1c.982A>T (p.Ser328Cys)
c.793A>T (p.Ser265Cys)
c.*854A>T (n.*854A>T)
c.916A>T (p.Ser306Cys)
c.251+8286A>T
c.946A>T (p.Ser316Cys)
c.*953A>T (n.*953A>T)
c.802A>T (p.Ser268Cys)
c.910A>T (p.Ser304Cys)
c.981A>T (p.Ter327Cys)
c.865A>T (p.Ser289Cys)
17g.6425633T>CCA397394495AIPL1c.982A>G (p.Ser328Gly)
c.793A>G (p.Ser265Gly)
c.*854A>G (n.*854A>G)
c.916A>G (p.Ser306Gly)
c.251+8286A>G
c.946A>G (p.Ser316Gly)
c.*953A>G (n.*953A>G)
c.802A>G (p.Ser268Gly)
c.910A>G (p.Ser304Gly)
c.981A>G (p.Ter327Trp)
c.865A>G (p.Ser289Gly)
17g.6425633T>GCA397394494AIPL1c.982A>C (p.Ser328Arg)
c.793A>C (p.Ser265Arg)
c.*854A>C (n.*854A>C)
c.916A>C (p.Ser306Arg)
c.251+8286A>C
c.946A>C (p.Ser316Arg)
c.*953A>C (n.*953A>C)
c.802A>C (p.Ser268Arg)
c.910A>C (p.Ser304Arg)
c.981A>C (p.Ter327Cys)
c.865A>C (p.Ser289Arg)
17g.6425634C>ACA397394496AIPL1c.981G>T (p.Leu327=)
c.792G>T (p.Leu264=)
c.*853G>T (n.*853G>T)
c.915G>T (p.Leu305=)
c.251+8285G>T
c.945G>T (p.Leu315=)
c.*952G>T (n.*952G>T)
c.801G>T (p.Leu267=)
c.909G>T (p.Leu303=)
c.980G>T (p.Ter327Leu)
c.864G>T (p.Leu288=)
17g.6425634C=CA2245346860AIPL1c.981G= (p.Leu327=)
c.792G= (p.Leu264=)
c.*853G= (n.*853G=)
c.915G= (p.Leu305=)
c.251+8285G=
c.945G= (p.Leu315=)
c.*952G= (n.*952G=)
c.801G= (p.Leu267=)
c.909G= (p.Leu303=)
c.980G= (p.Ter327=)
c.864G= (p.Leu288=)
17g.6425634C>GCA397394497AIPL1c.981G>C (p.Leu327=)
c.792G>C (p.Leu264=)
c.*853G>C (n.*853G>C)
c.915G>C (p.Leu305=)
c.251+8285G>C
c.945G>C (p.Leu315=)
c.*952G>C (n.*952G>C)
c.801G>C (p.Leu267=)
c.909G>C (p.Leu303=)
c.980G>C (p.Ter327Ser)
c.864G>C (p.Leu288=)
17g.6425634C>TCA497687418AIPL1c.981G>A (p.Leu327=)
c.792G>A (p.Leu264=)
c.*853G>A (n.*853G>A)
c.915G>A (p.Leu305=)
c.251+8285G>A
c.945G>A (p.Leu315=)
c.*952G>A (n.*952G>A)
c.801G>A (p.Leu267=)
c.909G>A (p.Leu303=)
c.980G>A (p.Ter327=)
c.864G>A (p.Leu288=)
 ClinVar dbSNP
17g.6425635A>CCA397394498AIPL1c.980T>G (p.Leu327Arg)
c.791T>G (p.Leu264Arg)
c.*852T>G (n.*852T>G)
c.914T>G (p.Leu305Arg)
c.251+8284T>G
c.944T>G (p.Leu315Arg)
c.*951T>G (n.*951T>G)
c.800T>G (p.Leu267Arg)
c.908T>G (p.Leu303Arg)
c.979T>G (p.Ter327Gly)
c.863T>G (p.Leu288Arg)
17g.6425635A>GCA397394499AIPL1c.980T>C (p.Leu327Pro)
c.791T>C (p.Leu264Pro)
c.*852T>C (n.*852T>C)
c.914T>C (p.Leu305Pro)
c.251+8284T>C
c.944T>C (p.Leu315Pro)
c.*951T>C (n.*951T>C)
c.800T>C (p.Leu267Pro)
c.908T>C (p.Leu303Pro)
c.979T>C (p.Ter327Arg)
c.863T>C (p.Leu288Pro)
17g.6425635A>TCA397394500AIPL1c.980T>A (p.Leu327Gln)
c.791T>A (p.Leu264Gln)
c.*852T>A (n.*852T>A)
c.914T>A (p.Leu305Gln)
c.251+8284T>A
c.944T>A (p.Leu315Gln)
c.*951T>A (n.*951T>A)
c.800T>A (p.Leu267Gln)
c.908T>A (p.Leu303Gln)
c.979T>A (p.Ter327Arg)
c.863T>A (p.Leu288Gln)
17g.6425636G>ACA287323771AIPL1c.979C>T (p.Leu327=)
c.790C>T (p.Leu264=)
c.*851C>T (n.*851C>T)
c.913C>T (p.Leu305=)
c.251+8283C>T
c.943C>T (p.Leu315=)
c.*950C>T (n.*950C>T)
c.799C>T (p.Leu267=)
c.907C>T (p.Leu303=)
c.978C>T (p.Cys326=)
c.862C>T (p.Leu288=)
 dbSNP
17g.6425636G>CCA397394502AIPL1c.979C>G (p.Leu327Val)
c.790C>G (p.Leu264Val)
c.*851C>G (n.*851C>G)
c.913C>G (p.Leu305Val)
c.251+8283C>G
c.943C>G (p.Leu315Val)
c.*950C>G (n.*950C>G)
c.799C>G (p.Leu267Val)
c.907C>G (p.Leu303Val)
c.978C>G (p.Cys326Trp)
c.862C>G (p.Leu288Val)
17g.6425636G=CA2245346863AIPL1c.979C= (p.Leu327=)
c.790C= (p.Leu264=)
c.*851C= (n.*851C=)
c.913C= (p.Leu305=)
c.251+8283C=
c.943C= (p.Leu315=)
c.*950C= (n.*950C=)
c.799C= (p.Leu267=)
c.907C= (p.Leu303=)
c.978C= (p.Cys326=)
c.862C= (p.Leu288=)
17g.6425636G>TCA397394501AIPL1c.979C>A (p.Leu327Met)
c.790C>A (p.Leu264Met)
c.*851C>A (n.*851C>A)
c.913C>A (p.Leu305Met)
c.251+8283C>A
c.943C>A (p.Leu315Met)
c.*950C>A (n.*950C>A)
c.799C>A (p.Leu267Met)
c.907C>A (p.Leu303Met)
c.978C>A (p.Cys326Ter)
c.862C>A (p.Leu288Met)
 gnomAD v4
17g.6425637C>ACA397394503AIPL1c.978G>T (p.Met326Ile)
c.789G>T (p.Met263Ile)
c.*850G>T (n.*850G>T)
c.912G>T (p.Met304Ile)
c.251+8282G>T
c.942G>T (p.Met314Ile)
c.*949G>T (n.*949G>T)
c.798G>T (p.Met266Ile)
c.906G>T (p.Met302Ile)
c.977G>T (p.Cys326Phe)
c.861G>T (p.Met287Ile)
17g.6425637C>GCA397394504AIPL1c.978G>C (p.Met326Ile)
c.789G>C (p.Met263Ile)
c.*850G>C (n.*850G>C)
c.912G>C (p.Met304Ile)
c.251+8282G>C
c.942G>C (p.Met314Ile)
c.*949G>C (n.*949G>C)
c.798G>C (p.Met266Ile)
c.906G>C (p.Met302Ile)
c.977G>C (p.Cys326Ser)
c.861G>C (p.Met287Ile)
17g.6425637C>TCA397394505AIPL1c.978G>A (p.Met326Ile)
c.789G>A (p.Met263Ile)
c.*850G>A (n.*850G>A)
c.912G>A (p.Met304Ile)
c.251+8282G>A
c.942G>A (p.Met314Ile)
c.*949G>A (n.*949G>A)
c.798G>A (p.Met266Ile)
c.906G>A (p.Met302Ile)
c.977G>A (p.Cys326Tyr)
c.861G>A (p.Met287Ile)
17g.6425638A>CCA397394506AIPL1c.977T>G (p.Met326Arg)
c.788T>G (p.Met263Arg)
c.*849T>G (n.*849T>G)
c.911T>G (p.Met304Arg)
c.251+8281T>G
c.941T>G (p.Met314Arg)
c.*948T>G (n.*948T>G)
c.797T>G (p.Met266Arg)
c.905T>G (p.Met302Arg)
c.976T>G (p.Cys326Gly)
c.860T>G (p.Met287Arg)
17g.6425638A>GCA397394507AIPL1c.977T>C (p.Met326Thr)
c.788T>C (p.Met263Thr)
c.*849T>C (n.*849T>C)
c.911T>C (p.Met304Thr)
c.251+8281T>C
c.941T>C (p.Met314Thr)
c.*948T>C (n.*948T>C)
c.797T>C (p.Met266Thr)
c.905T>C (p.Met302Thr)
c.976T>C (p.Cys326Arg)
c.860T>C (p.Met287Thr)
 gnomAD v4
17g.6425638A>TCA397394508AIPL1c.977T>A (p.Met326Lys)
c.788T>A (p.Met263Lys)
c.*849T>A (n.*849T>A)
c.911T>A (p.Met304Lys)
c.251+8281T>A
c.941T>A (p.Met314Lys)
c.*948T>A (n.*948T>A)
c.797T>A (p.Met266Lys)
c.905T>A (p.Met302Lys)
c.976T>A (p.Cys326Ser)
c.860T>A (p.Met287Lys)
17g.6425639T>ACA397394509AIPL1c.976A>T (p.Met326Leu)
c.787A>T (p.Met263Leu)
c.*848A>T (n.*848A>T)
c.910A>T (p.Met304Leu)
c.251+8280A>T
c.940A>T (p.Met314Leu)
c.*947A>T (n.*947A>T)
c.796A>T (p.Met266Leu)
c.904A>T (p.Met302Leu)
c.975A>T (p.Thr325=)
c.859A>T (p.Met287Leu)
17g.6425639T>CCA397394510AIPL1c.976A>G (p.Met326Val)
c.787A>G (p.Met263Val)
c.*848A>G (n.*848A>G)
c.910A>G (p.Met304Val)
c.251+8280A>G
c.940A>G (p.Met314Val)
c.*947A>G (n.*947A>G)
c.796A>G (p.Met266Val)
c.904A>G (p.Met302Val)
c.975A>G (p.Thr325=)
c.859A>G (p.Met287Val)
 dbSNP gnomAD v2 gnomAD v4
17g.6425639T>GCA397394511AIPL1c.976A>C (p.Met326Leu)
c.787A>C (p.Met263Leu)
c.*848A>C (n.*848A>C)
c.910A>C (p.Met304Leu)
c.251+8280A>C
c.940A>C (p.Met314Leu)
c.*947A>C (n.*947A>C)
c.796A>C (p.Met266Leu)
c.904A>C (p.Met302Leu)
c.975A>C (p.Thr325=)
c.859A>C (p.Met287Leu)
17g.6425639T=CA2245346866AIPL1c.976A= (p.Met326=)
c.787A= (p.Met263=)
c.*848A= (n.*848A=)
c.910A= (p.Met304=)
c.251+8280A=
c.940A= (p.Met314=)
c.*947A= (n.*947A=)
c.796A= (p.Met266=)
c.904A= (p.Met302=)
c.975A= (p.Thr325=)
c.859A= (p.Met287=)
17g.6425640G>ACA397394512AIPL1c.975C>T (p.Asn325=)
c.786C>T (p.Asn262=)
c.*847C>T (n.*847C>T)
c.909C>T (p.Asn303=)
c.251+8279C>T
c.939C>T (p.Asn313=)
c.*946C>T (n.*946C>T)
c.795C>T (p.Asn265=)
c.903C>T (p.Asn301=)
c.974C>T (p.Thr325Ile)
c.858C>T (p.Asn286=)
 dbSNP
17g.6425640G>CCA397394513AIPL1c.975C>G (p.Asn325Lys)
c.786C>G (p.Asn262Lys)
c.*847C>G (n.*847C>G)
c.909C>G (p.Asn303Lys)
c.251+8279C>G
c.939C>G (p.Asn313Lys)
c.*946C>G (n.*946C>G)
c.795C>G (p.Asn265Lys)
c.903C>G (p.Asn301Lys)
c.974C>G (p.Thr325Arg)
c.858C>G (p.Asn286Lys)
17g.6425640G>TCA397394514AIPL1c.975C>A (p.Asn325Lys)
c.786C>A (p.Asn262Lys)
c.*847C>A (n.*847C>A)
c.909C>A (p.Asn303Lys)
c.251+8279C>A
c.939C>A (p.Asn313Lys)
c.*946C>A (n.*946C>A)
c.795C>A (p.Asn265Lys)
c.903C>A (p.Asn301Lys)
c.974C>A (p.Thr325Lys)
c.858C>A (p.Asn286Lys)
 gnomAD v4
17g.6425641T>ACA397394515AIPL1c.974A>T (p.Asn325Ile)
c.785A>T (p.Asn262Ile)
c.*846A>T (n.*846A>T)
c.908A>T (p.Asn303Ile)
c.251+8278A>T
c.938A>T (p.Asn313Ile)
c.*945A>T (n.*945A>T)
c.794A>T (p.Asn265Ile)
c.902A>T (p.Asn301Ile)
c.973A>T (p.Thr325Ser)
c.857A>T (p.Asn286Ile)
17g.6425641T>CCA397394517AIPL1c.974A>G (p.Asn325Ser)
c.785A>G (p.Asn262Ser)
c.*846A>G (n.*846A>G)
c.908A>G (p.Asn303Ser)
c.251+8278A>G
c.938A>G (p.Asn313Ser)
c.*945A>G (n.*945A>G)
c.794A>G (p.Asn265Ser)
c.902A>G (p.Asn301Ser)
c.973A>G (p.Thr325Ala)
c.857A>G (p.Asn286Ser)
 gnomAD v4
17g.6425641T>GCA397394516AIPL1c.974A>C (p.Asn325Thr)
c.785A>C (p.Asn262Thr)
c.*846A>C (n.*846A>C)
c.908A>C (p.Asn303Thr)
c.251+8278A>C
c.938A>C (p.Asn313Thr)
c.*945A>C (n.*945A>C)
c.794A>C (p.Asn265Thr)
c.902A>C (p.Asn301Thr)
c.973A>C (p.Thr325Pro)
c.857A>C (p.Asn286Thr)
17g.6425642T>ACA397394518AIPL1c.973A>T (p.Asn325Tyr)
c.784A>T (p.Asn262Tyr)
c.*845A>T (n.*845A>T)
c.907A>T (p.Asn303Tyr)
c.251+8277A>T
c.937A>T (p.Asn313Tyr)
c.*944A>T (n.*944A>T)
c.793A>T (p.Asn265Tyr)
c.901A>T (p.Asn301Tyr)
c.972A>T (p.Gly324=)
c.856A>T (p.Asn286Tyr)
17g.6425642T>CCA397394519AIPL1c.973A>G (p.Asn325Asp)
c.784A>G (p.Asn262Asp)
c.*845A>G (n.*845A>G)
c.907A>G (p.Asn303Asp)
c.251+8277A>G
c.937A>G (p.Asn313Asp)
c.*944A>G (n.*944A>G)
c.793A>G (p.Asn265Asp)
c.901A>G (p.Asn301Asp)
c.972A>G (p.Gly324=)
c.856A>G (p.Asn286Asp)
17g.6425642T>GCA397394520AIPL1c.973A>C (p.Asn325His)
c.784A>C (p.Asn262His)
c.*845A>C (n.*845A>C)
c.907A>C (p.Asn303His)
c.251+8277A>C
c.937A>C (p.Asn313His)
c.*944A>C (n.*944A>C)
c.793A>C (p.Asn265His)
c.901A>C (p.Asn301His)
c.972A>C (p.Gly324=)
c.856A>C (p.Asn286His)
17g.6425642_6425643delinsTCCA2245346869AIPL1c.972_973delinsGA (p.Arg324=)
c.783_784delinsGA (p.Arg261=)
c.*844_*845delinsGA (n.*844_*845delinsGA)
c.906_907delinsGA (p.Arg302=)
c.251+8276_251+8277delinsGA
c.936_937delinsGA (p.Arg312=)
c.*943_*944delinsGA (n.*943_*944delinsGA)
c.792_793delinsGA (p.Arg264=)
c.900_901delinsGA (p.Arg300=)
c.971_972delinsGA (p.Gly324=)
c.855_856delinsGA (p.Arg285=)
17g.6425643C>ACA397394521AIPL1c.972G>T (p.Arg324=)
c.783G>T (p.Arg261=)
c.*844G>T (n.*844G>T)
c.906G>T (p.Arg302=)
c.251+8276G>T
c.936G>T (p.Arg312=)
c.*943G>T (n.*943G>T)
c.792G>T (p.Arg264=)
c.900G>T (p.Arg300=)
c.971G>T (p.Gly324Val)
c.855G>T (p.Arg285=)
 ClinVar gnomAD v4
17g.6425643C=CA2245346871AIPL1c.972G= (p.Arg324=)
c.783G= (p.Arg261=)
c.*844G= (n.*844G=)
c.906G= (p.Arg302=)
c.251+8276G=
c.936G= (p.Arg312=)
c.*943G= (n.*943G=)
c.792G= (p.Arg264=)
c.900G= (p.Arg300=)
c.971G= (p.Gly324=)
c.855G= (p.Arg285=)
17g.6425643C>GCA397394522AIPL1c.972G>C (p.Arg324=)
c.783G>C (p.Arg261=)
c.*844G>C (n.*844G>C)
c.906G>C (p.Arg302=)
c.251+8276G>C
c.936G>C (p.Arg312=)
c.*943G>C (n.*943G>C)
c.792G>C (p.Arg264=)
c.900G>C (p.Arg300=)
c.971G>C (p.Gly324Ala)
c.855G>C (p.Arg285=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425643C>TCA397394523AIPL1c.972G>A (p.Arg324=)
c.783G>A (p.Arg261=)
c.*844G>A (n.*844G>A)
c.906G>A (p.Arg302=)
c.251+8276G>A
c.936G>A (p.Arg312=)
c.*943G>A (n.*943G>A)
c.792G>A (p.Arg264=)
c.900G>A (p.Arg300=)
c.971G>A (p.Gly324Glu)
c.855G>A (p.Arg285=)
 gnomAD v4
17g.6425644delCA981100671AIPL1c.972del (p.Asn325ThrfsTer3)
c.783del (p.Asn262ThrfsTer3)
c.*844del (n.*844del)
c.906del (p.Asn303ThrfsTer3)
c.251+8276del
c.936del (p.Asn313ThrfsTer3)
c.*943del (n.*943del)
c.792del (p.Asn265ThrfsTer3)
c.900del (p.Asn301ThrfsTer3)
c.971del (p.Gly324GlufsTer?)
c.855del (p.Asn286ThrfsTer3)
 dbSNP gnomAD v3 gnomAD v4
17g.6425644C>ACA246741AIPL1c.971G>T (p.Arg324Leu)
c.782G>T (p.Arg261Leu)
c.*843G>T (n.*843G>T)
c.905G>T (p.Arg302Leu)
c.251+8275G>T
c.935G>T (p.Arg312Leu)
c.*942G>T (n.*942G>T)
c.791G>T (p.Arg264Leu)
c.899G>T (p.Arg300Leu)
c.970G>T (p.Gly324Ter)
c.854G>T (p.Arg285Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425644C=CA2245346880AIPL1c.971G= (p.Arg324=)
c.782G= (p.Arg261=)
c.*843G= (n.*843G=)
c.905G= (p.Arg302=)
c.251+8275G=
c.935G= (p.Arg312=)
c.*942G= (n.*942G=)
c.791G= (p.Arg264=)
c.899G= (p.Arg300=)
c.970G= (p.Gly324=)
c.854G= (p.Arg285=)
17g.6425644C>GCA397394524AIPL1c.971G>C (p.Arg324Pro)
c.782G>C (p.Arg261Pro)
c.*843G>C (n.*843G>C)
c.905G>C (p.Arg302Pro)
c.251+8275G>C
c.935G>C (p.Arg312Pro)
c.*942G>C (n.*942G>C)
c.791G>C (p.Arg264Pro)
c.899G>C (p.Arg300Pro)
c.970G>C (p.Gly324Arg)
c.854G>C (p.Arg285Pro)
 gnomAD v4
17g.6425644C>TCA8328338AIPL1c.971G>A (p.Arg324Gln)
c.782G>A (p.Arg261Gln)
c.*843G>A (n.*843G>A)
c.905G>A (p.Arg302Gln)
c.251+8275G>A
c.935G>A (p.Arg312Gln)
c.*942G>A (n.*942G>A)
c.791G>A (p.Arg264Gln)
c.899G>A (p.Arg300Gln)
c.970G>A (p.Gly324Arg)
c.854G>A (p.Arg285Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425645G>ACA8328340AIPL1c.970C>T (p.Arg324Trp)
c.781C>T (p.Arg261Trp)
c.*842C>T (n.*842C>T)
c.904C>T (p.Arg302Trp)
c.251+8274C>T
c.934C>T (p.Arg312Trp)
c.*941C>T (n.*941C>T)
c.790C>T (p.Arg264Trp)
c.898C>T (p.Arg300Trp)
c.969C>T (p.Ala323=)
c.853C>T (p.Arg285Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425645G>CCA397394525AIPL1c.970C>G (p.Arg324Gly)
c.781C>G (p.Arg261Gly)
c.*842C>G (n.*842C>G)
c.904C>G (p.Arg302Gly)
c.251+8274C>G
c.934C>G (p.Arg312Gly)
c.*941C>G (n.*941C>G)
c.790C>G (p.Arg264Gly)
c.898C>G (p.Arg300Gly)
c.969C>G (p.Ala323=)
c.853C>G (p.Arg285Gly)
17g.6425645G=CA2245346888AIPL1c.970C= (p.Arg324=)
c.781C= (p.Arg261=)
c.*842C= (n.*842C=)
c.904C= (p.Arg302=)
c.251+8274C=
c.934C= (p.Arg312=)
c.*941C= (n.*941C=)
c.790C= (p.Arg264=)
c.898C= (p.Arg300=)
c.969C= (p.Ala323=)
c.853C= (p.Arg285=)
17g.6425645G>TCA8328339AIPL1c.970C>A (p.Arg324=)
c.781C>A (p.Arg261=)
c.*842C>A (n.*842C>A)
c.904C>A (p.Arg302=)
c.251+8274C>A
c.934C>A (p.Arg312=)
c.*941C>A (n.*941C>A)
c.790C>A (p.Arg264=)
c.898C>A (p.Arg300=)
c.969C>A (p.Ala323=)
c.853C>A (p.Arg285=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425646G>ACA8328341AIPL1c.969C>T (p.Cys323=)
c.780C>T (p.Cys260=)
c.*841C>T (n.*841C>T)
c.903C>T (p.Cys301=)
c.251+8273C>T
c.933C>T (p.Cys311=)
c.*940C>T (n.*940C>T)
c.789C>T (p.Cys263=)
c.897C>T (p.Cys299=)
c.968C>T (p.Ala323Val)
c.852C>T (p.Cys284=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425646G>CCA397394527AIPL1c.969C>G (p.Cys323Trp)
c.780C>G (p.Cys260Trp)
c.*841C>G (n.*841C>G)
c.903C>G (p.Cys301Trp)
c.251+8273C>G
c.933C>G (p.Cys311Trp)
c.*940C>G (n.*940C>G)
c.789C>G (p.Cys263Trp)
c.897C>G (p.Cys299Trp)
c.968C>G (p.Ala323Gly)
c.852C>G (p.Cys284Trp)
17g.6425646G=CA2245346891AIPL1c.969C= (p.Cys323=)
c.780C= (p.Cys260=)
c.*841C= (n.*841C=)
c.903C= (p.Cys301=)
c.251+8273C=
c.933C= (p.Cys311=)
c.*940C= (n.*940C=)
c.789C= (p.Cys263=)
c.897C= (p.Cys299=)
c.968C= (p.Ala323=)
c.852C= (p.Cys284=)
17g.6425646G>TCA397394526AIPL1c.969C>A (p.Cys323Ter)
c.780C>A (p.Cys260Ter)
c.*841C>A (n.*841C>A)
c.903C>A (p.Cys301Ter)
c.251+8273C>A
c.933C>A (p.Cys311Ter)
c.*940C>A (n.*940C>A)
c.789C>A (p.Cys263Ter)
c.897C>A (p.Cys299Ter)
c.968C>A (p.Ala323Asp)
c.852C>A (p.Cys284Ter)
17g.6425647C>ACA397394528AIPL1c.968G>T (p.Cys323Phe)
c.779G>T (p.Cys260Phe)
c.*840G>T (n.*840G>T)
c.902G>T (p.Cys301Phe)
c.251+8272G>T
c.932G>T (p.Cys311Phe)
c.*939G>T (n.*939G>T)
c.788G>T (p.Cys263Phe)
c.896G>T (p.Cys299Phe)
c.967G>T (p.Ala323Ser)
c.851G>T (p.Cys284Phe)
17g.6425647C>GCA397394529AIPL1c.968G>C (p.Cys323Ser)
c.779G>C (p.Cys260Ser)
c.*840G>C (n.*840G>C)
c.902G>C (p.Cys301Ser)
c.251+8272G>C
c.932G>C (p.Cys311Ser)
c.*939G>C (n.*939G>C)
c.788G>C (p.Cys263Ser)
c.896G>C (p.Cys299Ser)
c.967G>C (p.Ala323Pro)
c.851G>C (p.Cys284Ser)
17g.6425647C>TCA397394530AIPL1c.968G>A (p.Cys323Tyr)
c.779G>A (p.Cys260Tyr)
c.*840G>A (n.*840G>A)
c.902G>A (p.Cys301Tyr)
c.251+8272G>A
c.932G>A (p.Cys311Tyr)
c.*939G>A (n.*939G>A)
c.788G>A (p.Cys263Tyr)
c.896G>A (p.Cys299Tyr)
c.967G>A (p.Ala323Thr)
c.851G>A (p.Cys284Tyr)
17g.6425648A>CCA397394531AIPL1c.967T>G (p.Cys323Gly)
c.778T>G (p.Cys260Gly)
c.*839T>G (n.*839T>G)
c.901T>G (p.Cys301Gly)
c.251+8271T>G
c.931T>G (p.Cys311Gly)
c.*938T>G (n.*938T>G)
c.787T>G (p.Cys263Gly)
c.895T>G (p.Cys299Gly)
c.966T>G (p.Ala322=)
c.850T>G (p.Cys284Gly)
17g.6425648A>GCA397394532AIPL1c.967T>C (p.Cys323Arg)
c.778T>C (p.Cys260Arg)
c.*839T>C (n.*839T>C)
c.901T>C (p.Cys301Arg)
c.251+8271T>C
c.931T>C (p.Cys311Arg)
c.*938T>C (n.*938T>C)
c.787T>C (p.Cys263Arg)
c.895T>C (p.Cys299Arg)
c.966T>C (p.Ala322=)
c.850T>C (p.Cys284Arg)
17g.6425648A>TCA397394533AIPL1c.967T>A (p.Cys323Ser)
c.778T>A (p.Cys260Ser)
c.*839T>A (n.*839T>A)
c.901T>A (p.Cys301Ser)
c.251+8271T>A
c.931T>A (p.Cys311Ser)
c.*938T>A (n.*938T>A)
c.787T>A (p.Cys263Ser)
c.895T>A (p.Cys299Ser)
c.966T>A (p.Ala322=)
c.850T>A (p.Cys284Ser)
17g.6425649G>ACA8328342AIPL1c.966C>T (p.Arg322=)
c.777C>T (p.Arg259=)
c.*838C>T (n.*838C>T)
c.900C>T (p.Arg300=)
c.251+8270C>T
c.930C>T (p.Arg310=)
c.*937C>T (n.*937C>T)
c.786C>T (p.Arg262=)
c.894C>T (p.Arg298=)
c.965C>T (p.Ala322Val)
c.849C>T (p.Arg283=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425649G>CCA397394534AIPL1c.966C>G (p.Arg322=)
c.777C>G (p.Arg259=)
c.*838C>G (n.*838C>G)
c.900C>G (p.Arg300=)
c.251+8270C>G
c.930C>G (p.Arg310=)
c.*937C>G (n.*937C>G)
c.786C>G (p.Arg262=)
c.894C>G (p.Arg298=)
c.965C>G (p.Ala322Gly)
c.849C>G (p.Arg283=)
17g.6425649G=CA2245346894AIPL1c.966C= (p.Arg322=)
c.777C= (p.Arg259=)
c.*838C= (n.*838C=)
c.900C= (p.Arg300=)
c.251+8270C=
c.930C= (p.Arg310=)
c.*937C= (n.*937C=)
c.786C= (p.Arg262=)
c.894C= (p.Arg298=)
c.965C= (p.Ala322=)
c.849C= (p.Arg283=)
17g.6425649G>TCA397394535AIPL1c.966C>A (p.Arg322=)
c.777C>A (p.Arg259=)
c.*838C>A (n.*838C>A)
c.900C>A (p.Arg300=)
c.251+8270C>A
c.930C>A (p.Arg310=)
c.*937C>A (n.*937C>A)
c.786C>A (p.Arg262=)
c.894C>A (p.Arg298=)
c.965C>A (p.Ala322Asp)
c.849C>A (p.Arg283=)
17g.6425650C>ACA397394536AIPL1c.965G>T (p.Arg322Leu)
c.776G>T (p.Arg259Leu)
c.*837G>T (n.*837G>T)
c.899G>T (p.Arg300Leu)
c.251+8269G>T
c.929G>T (p.Arg310Leu)
c.*936G>T (n.*936G>T)
c.785G>T (p.Arg262Leu)
c.893G>T (p.Arg298Leu)
c.964G>T (p.Ala322Ser)
c.848G>T (p.Arg283Leu)
 gnomAD v4
17g.6425650C=CA2245346899AIPL1c.965G= (p.Arg322=)
c.776G= (p.Arg259=)
c.*837G= (n.*837G=)
c.899G= (p.Arg300=)
c.251+8269G=
c.929G= (p.Arg310=)
c.*936G= (n.*936G=)
c.785G= (p.Arg262=)
c.893G= (p.Arg298=)
c.964G= (p.Ala322=)
c.848G= (p.Arg283=)
17g.6425650C>GCA8328344AIPL1c.965G>C (p.Arg322Pro)
c.776G>C (p.Arg259Pro)
c.*837G>C (n.*837G>C)
c.899G>C (p.Arg300Pro)
c.251+8269G>C
c.929G>C (p.Arg310Pro)
c.*936G>C (n.*936G>C)
c.785G>C (p.Arg262Pro)
c.893G>C (p.Arg298Pro)
c.964G>C (p.Ala322Pro)
c.848G>C (p.Arg283Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425650C>TCA8328343AIPL1c.965G>A (p.Arg322His)
c.776G>A (p.Arg259His)
c.*837G>A (n.*837G>A)
c.899G>A (p.Arg300His)
c.251+8269G>A
c.929G>A (p.Arg310His)
c.*936G>A (n.*936G>A)
c.785G>A (p.Arg262His)
c.893G>A (p.Arg298His)
c.964G>A (p.Ala322Thr)
c.848G>A (p.Arg283His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.6425651G>ACA8328345AIPL1c.964C>T (p.Arg322Cys)
c.775C>T (p.Arg259Cys)
c.*836C>T (n.*836C>T)
c.898C>T (p.Arg300Cys)
c.251+8268C>T
c.928C>T (p.Arg310Cys)
c.*935C>T (n.*935C>T)
c.784C>T (p.Arg262Cys)
c.892C>T (p.Arg298Cys)
c.963C>T (p.Cys321=)
c.847C>T (p.Arg283Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425651G>CCA397394538AIPL1c.964C>G (p.Arg322Gly)
c.775C>G (p.Arg259Gly)
c.*836C>G (n.*836C>G)
c.898C>G (p.Arg300Gly)
c.251+8268C>G
c.928C>G (p.Arg310Gly)
c.*935C>G (n.*935C>G)
c.784C>G (p.Arg262Gly)
c.892C>G (p.Arg298Gly)
c.963C>G (p.Cys321Trp)
c.847C>G (p.Arg283Gly)
17g.6425651G=CA2245346903AIPL1c.964C= (p.Arg322=)
c.775C= (p.Arg259=)
c.*836C= (n.*836C=)
c.898C= (p.Arg300=)
c.251+8268C=
c.928C= (p.Arg310=)
c.*935C= (n.*935C=)
c.784C= (p.Arg262=)
c.892C= (p.Arg298=)
c.963C= (p.Cys321=)
c.847C= (p.Arg283=)
17g.6425651G>TCA397394537AIPL1c.964C>A (p.Arg322Ser)
c.775C>A (p.Arg259Ser)
c.*836C>A (n.*836C>A)
c.898C>A (p.Arg300Ser)
c.251+8268C>A
c.928C>A (p.Arg310Ser)
c.*935C>A (n.*935C>A)
c.784C>A (p.Arg262Ser)
c.892C>A (p.Arg298Ser)
c.963C>A (p.Cys321Ter)
c.847C>A (p.Arg283Ser)
17g.6425652C>ACA397394539AIPL1c.963G>T (p.Leu321=)
c.774G>T (p.Leu258=)
c.*835G>T (n.*835G>T)
c.897G>T (p.Leu299=)
c.251+8267G>T
c.927G>T (p.Leu309=)
c.*934G>T (n.*934G>T)
c.783G>T (p.Leu261=)
c.891G>T (p.Leu297=)
c.962G>T (p.Cys321Phe)
c.846G>T (p.Leu282=)
17g.6425652C=CA2245346904AIPL1c.963G= (p.Leu321=)
c.774G= (p.Leu258=)
c.*835G= (n.*835G=)
c.897G= (p.Leu299=)
c.251+8267G=
c.927G= (p.Leu309=)
c.*934G= (n.*934G=)
c.783G= (p.Leu261=)
c.891G= (p.Leu297=)
c.962G= (p.Cys321=)
c.846G= (p.Leu282=)
17g.6425652C>GCA287323783AIPL1c.963G>C (p.Leu321=)
c.774G>C (p.Leu258=)
c.*835G>C (n.*835G>C)
c.897G>C (p.Leu299=)
c.251+8267G>C
c.927G>C (p.Leu309=)
c.*934G>C (n.*934G>C)
c.783G>C (p.Leu261=)
c.891G>C (p.Leu297=)
c.962G>C (p.Cys321Ser)
c.846G>C (p.Leu282=)
 dbSNP
17g.6425652C>TCA397394540AIPL1c.963G>A (p.Leu321=)
c.774G>A (p.Leu258=)
c.*835G>A (n.*835G>A)
c.897G>A (p.Leu299=)
c.251+8267G>A
c.927G>A (p.Leu309=)
c.*934G>A (n.*934G>A)
c.783G>A (p.Leu261=)
c.891G>A (p.Leu297=)
c.962G>A (p.Cys321Tyr)
c.846G>A (p.Leu282=)
 ClinVar dbSNP
17g.6425653A>CCA397394541AIPL1c.962T>G (p.Leu321Arg)
c.773T>G (p.Leu258Arg)
c.*834T>G (n.*834T>G)
c.896T>G (p.Leu299Arg)
c.251+8266T>G
c.926T>G (p.Leu309Arg)
c.*933T>G (n.*933T>G)
c.782T>G (p.Leu261Arg)
c.890T>G (p.Leu297Arg)
c.961T>G (p.Cys321Gly)
c.845T>G (p.Leu282Arg)
 gnomAD v4
17g.6425653A>GCA397394542AIPL1c.962T>C (p.Leu321Pro)
c.773T>C (p.Leu258Pro)
c.*834T>C (n.*834T>C)
c.896T>C (p.Leu299Pro)
c.251+8266T>C
c.926T>C (p.Leu309Pro)
c.*933T>C (n.*933T>C)
c.782T>C (p.Leu261Pro)
c.890T>C (p.Leu297Pro)
c.961T>C (p.Cys321Arg)
c.845T>C (p.Leu282Pro)
17g.6425653A>TCA397394543AIPL1c.962T>A (p.Leu321Gln)
c.773T>A (p.Leu258Gln)
c.*834T>A (n.*834T>A)
c.896T>A (p.Leu299Gln)
c.251+8266T>A
c.926T>A (p.Leu309Gln)
c.*933T>A (n.*933T>A)
c.782T>A (p.Leu261Gln)
c.890T>A (p.Leu297Gln)
c.961T>A (p.Cys321Ser)
c.845T>A (p.Leu282Gln)
17g.6425654G>ACA8328346AIPL1c.961C>T (p.Leu321=)
c.772C>T (p.Leu258=)
c.*833C>T (n.*833C>T)
c.895C>T (p.Leu299=)
c.251+8265C>T
c.925C>T (p.Leu309=)
c.*932C>T (n.*932C>T)
c.781C>T (p.Leu261=)
c.889C>T (p.Leu297=)
c.960C>T (p.Gly320=)
c.844C>T (p.Leu282=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.6425654G>CCA397394544AIPL1c.961C>G (p.Leu321Val)
c.772C>G (p.Leu258Val)
c.*833C>G (n.*833C>G)
c.895C>G (p.Leu299Val)
c.251+8265C>G
c.925C>G (p.Leu309Val)
c.*932C>G (n.*932C>G)
c.781C>G (p.Leu261Val)
c.889C>G (p.Leu297Val)
c.960C>G (p.Gly320=)
c.844C>G (p.Leu282Val)
17g.6425654G=CA2245346905AIPL1c.961C= (p.Leu321=)
c.772C= (p.Leu258=)
c.*833C= (n.*833C=)
c.895C= (p.Leu299=)
c.251+8265C=
c.925C= (p.Leu309=)
c.*932C= (n.*932C=)
c.781C= (p.Leu261=)
c.889C= (p.Leu297=)
c.960C= (p.Gly320=)
c.844C= (p.Leu282=)
17g.6425654G>TCA397394545AIPL1c.961C>A (p.Leu321Met)
c.772C>A (p.Leu258Met)
c.*833C>A (n.*833C>A)
c.895C>A (p.Leu299Met)
c.251+8265C>A
c.925C>A (p.Leu309Met)
c.*932C>A (n.*932C>A)
c.781C>A (p.Leu261Met)
c.889C>A (p.Leu297Met)
c.960C>A (p.Gly320=)
c.844C>A (p.Leu282Met)
 gnomAD v4
17g.6425655C>ACA397394546AIPL1c.960G>T (p.Arg320=)
c.771G>T (p.Arg257=)
c.*832G>T (n.*832G>T)
c.894G>T (p.Arg298=)
c.251+8264G>T
c.924G>T (p.Arg308=)
c.*931G>T (n.*931G>T)
c.780G>T (p.Arg260=)
c.888G>T (p.Arg296=)
c.959G>T (p.Gly320Val)
c.843G>T (p.Arg281=)
17g.6425655C>GCA397394547AIPL1c.960G>C (p.Arg320=)
c.771G>C (p.Arg257=)
c.*832G>C (n.*832G>C)
c.894G>C (p.Arg298=)
c.251+8264G>C
c.924G>C (p.Arg308=)
c.*931G>C (n.*931G>C)
c.780G>C (p.Arg260=)
c.888G>C (p.Arg296=)
c.959G>C (p.Gly320Ala)
c.843G>C (p.Arg281=)
17g.6425655C>TCA397394548AIPL1c.960G>A (p.Arg320=)
c.771G>A (p.Arg257=)
c.*832G>A (n.*832G>A)
c.894G>A (p.Arg298=)
c.251+8264G>A
c.924G>A (p.Arg308=)
c.*931G>A (n.*931G>A)
c.780G>A (p.Arg260=)
c.888G>A (p.Arg296=)
c.959G>A (p.Gly320Asp)
c.843G>A (p.Arg281=)
 COSMIC
17g.6425659_6425678dupCA916083523AIPL1c.941_960dup (p.Leu321ArgfsTer14)
c.752_771dup (p.Leu258ArgfsTer14)
c.*813_*832dup (n.*813_*832dup)
c.875_894dup (p.Leu299ArgfsTer14)
c.251+8245_251+8264dup
c.905_924dup (p.Leu309ArgfsTer14)
c.*912_*931dup (n.*912_*931dup)
c.761_780dup (p.Leu261ArgfsTer14)
c.869_888dup (p.Leu297ArgfsTer14)
c.940_959dup (p.Cys321GlufsTer?)
c.824_843dup (p.Leu282ArgfsTer14)
 ClinVar dbSNP
17g.6425656C>ACA397394549AIPL1c.959G>T (p.Arg320Leu)
c.770G>T (p.Arg257Leu)
c.*831G>T (n.*831G>T)
c.893G>T (p.Arg298Leu)
c.251+8263G>T
c.923G>T (p.Arg308Leu)
c.*930G>T (n.*930G>T)
c.779G>T (p.Arg260Leu)
c.887G>T (p.Arg296Leu)
c.958G>T (p.Gly320Cys)
c.842G>T (p.Arg281Leu)
 gnomAD v4
17g.6425656C=CA2245346908AIPL1c.959G= (p.Arg320=)
c.770G= (p.Arg257=)
c.*831G= (n.*831G=)
c.893G= (p.Arg298=)
c.251+8263G=
c.923G= (p.Arg308=)
c.*930G= (n.*930G=)
c.779G= (p.Arg260=)
c.887G= (p.Arg296=)
c.958G= (p.Gly320=)
c.842G= (p.Arg281=)
17g.6425656C>GCA397394550AIPL1c.959G>C (p.Arg320Pro)
c.770G>C (p.Arg257Pro)
c.*831G>C (n.*831G>C)
c.893G>C (p.Arg298Pro)
c.251+8263G>C
c.923G>C (p.Arg308Pro)
c.*930G>C (n.*930G>C)
c.779G>C (p.Arg260Pro)
c.887G>C (p.Arg296Pro)
c.958G>C (p.Gly320Arg)
c.842G>C (p.Arg281Pro)
17g.6425656C>TCA8328347AIPL1c.959G>A (p.Arg320Gln)
c.770G>A (p.Arg257Gln)
c.*831G>A (n.*831G>A)
c.893G>A (p.Arg298Gln)
c.251+8263G>A
c.923G>A (p.Arg308Gln)
c.*930G>A (n.*930G>A)
c.779G>A (p.Arg260Gln)
c.887G>A (p.Arg296Gln)
c.958G>A (p.Gly320Ser)
c.842G>A (p.Arg281Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425657G>ACA397394551AIPL1c.958C>T (p.Arg320Trp)
c.769C>T (p.Arg257Trp)
c.*830C>T (n.*830C>T)
c.892C>T (p.Arg298Trp)
c.251+8262C>T
c.922C>T (p.Arg308Trp)
c.*929C>T (n.*929C>T)
c.778C>T (p.Arg260Trp)
c.886C>T (p.Arg296Trp)
c.957C>T (p.Ser319=)
c.841C>T (p.Arg281Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425657G>CCA397394553AIPL1c.958C>G (p.Arg320Gly)
c.769C>G (p.Arg257Gly)
c.*830C>G (n.*830C>G)
c.892C>G (p.Arg298Gly)
c.251+8262C>G
c.922C>G (p.Arg308Gly)
c.*929C>G (n.*929C>G)
c.778C>G (p.Arg260Gly)
c.886C>G (p.Arg296Gly)
c.957C>G (p.Ser319Arg)
c.841C>G (p.Arg281Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.6425657G=CA2245346912AIPL1c.958C= (p.Arg320=)
c.769C= (p.Arg257=)
c.*830C= (n.*830C=)
c.892C= (p.Arg298=)
c.251+8262C=
c.922C= (p.Arg308=)
c.*929C= (n.*929C=)
c.778C= (p.Arg260=)
c.886C= (p.Arg296=)
c.957C= (p.Ser319=)
c.841C= (p.Arg281=)
17g.6425657G>TCA397394552AIPL1c.958C>A (p.Arg320=)
c.769C>A (p.Arg257=)
c.*830C>A (n.*830C>A)
c.892C>A (p.Arg298=)
c.251+8262C>A
c.922C>A (p.Arg308=)
c.*929C>A (n.*929C>A)
c.778C>A (p.Arg260=)
c.886C>A (p.Arg296=)
c.957C>A (p.Ser319Arg)
c.841C>A (p.Arg281=)
 gnomAD v4
17g.6425657_6425660delinsGCTCCA2245346914AIPL1c.955_958delinsGAGC (p.Glu319=)
c.766_769delinsGAGC (p.Glu256=)
c.*827_*830delinsGAGC (n.*827_*830delinsGAGC)
c.889_892delinsGAGC (p.Glu297=)
c.251+8259_251+8262delinsGAGC
c.919_922delinsGAGC (p.Glu307=)
c.*926_*929delinsGAGC (n.*926_*929delinsGAGC)
c.775_778delinsGAGC (p.Glu259=)
c.883_886delinsGAGC (p.Glu295=)
c.954_957delinsGAGC (p.Arg318=)
c.838_841delinsGAGC (p.Glu280=)
17g.6425658C>ACA397394554AIPL1c.957G>T (p.Glu319Asp)
c.768G>T (p.Glu256Asp)
c.*829G>T (n.*829G>T)
c.891G>T (p.Glu297Asp)
c.251+8261G>T
c.921G>T (p.Glu307Asp)
c.*928G>T (n.*928G>T)
c.777G>T (p.Glu259Asp)
c.885G>T (p.Glu295Asp)
c.956G>T (p.Ser319Ile)
c.840G>T (p.Glu280Asp)
17g.6425658C>GCA397394555AIPL1c.957G>C (p.Glu319Asp)
c.768G>C (p.Glu256Asp)
c.*829G>C (n.*829G>C)
c.891G>C (p.Glu297Asp)
c.251+8261G>C
c.921G>C (p.Glu307Asp)
c.*928G>C (n.*928G>C)
c.777G>C (p.Glu259Asp)
c.885G>C (p.Glu295Asp)
c.956G>C (p.Ser319Thr)
c.840G>C (p.Glu280Asp)
17g.6425658C>TCA397394556AIPL1c.957G>A (p.Glu319=)
c.768G>A (p.Glu256=)
c.*829G>A (n.*829G>A)
c.891G>A (p.Glu297=)
c.251+8261G>A
c.921G>A (p.Glu307=)
c.*928G>A (n.*928G>A)
c.777G>A (p.Glu259=)
c.885G>A (p.Glu295=)
c.956G>A (p.Ser319Asn)
c.840G>A (p.Glu280=)
17g.6425666_6425668delCA645590905AIPL1c.955_957del (p.Glu319del)
c.766_768del (p.Glu256del)
c.*827_*829del (n.*827_*829del)
c.889_891del (p.Glu297del)
c.251+8259_251+8261del
c.919_921del (p.Glu307del)
c.*926_*928del (n.*926_*928del)
c.775_777del (p.Glu259del)
c.883_885del (p.Glu295del)
c.954_956del (p.Arg318del)
c.838_840del (p.Glu280del)
 dbSNP gnomAD v4 COSMIC
17g.6425659T>ACA397394557AIPL1c.956A>T (p.Glu319Val)
c.767A>T (p.Glu256Val)
c.*828A>T (n.*828A>T)
c.890A>T (p.Glu297Val)
c.251+8260A>T
c.920A>T (p.Glu307Val)
c.*927A>T (n.*927A>T)
c.776A>T (p.Glu259Val)
c.884A>T (p.Glu295Val)
c.955A>T (p.Ser319Cys)
c.839A>T (p.Glu280Val)
17g.6425659T>CCA397394558AIPL1c.956A>G (p.Glu319Gly)
c.767A>G (p.Glu256Gly)
c.*828A>G (n.*828A>G)
c.890A>G (p.Glu297Gly)
c.251+8260A>G
c.920A>G (p.Glu307Gly)
c.*927A>G (n.*927A>G)
c.776A>G (p.Glu259Gly)
c.884A>G (p.Glu295Gly)
c.955A>G (p.Ser319Gly)
c.839A>G (p.Glu280Gly)
 COSMIC
17g.6425659T>GCA397394559AIPL1c.956A>C (p.Glu319Ala)
c.767A>C (p.Glu256Ala)
c.*828A>C (n.*828A>C)
c.890A>C (p.Glu297Ala)
c.251+8260A>C
c.920A>C (p.Glu307Ala)
c.*927A>C (n.*927A>C)
c.776A>C (p.Glu259Ala)
c.884A>C (p.Glu295Ala)
c.955A>C (p.Ser319Arg)
c.839A>C (p.Glu280Ala)
17g.6425660C>ACA397394560AIPL1c.955G>T (p.Glu319Ter)
c.766G>T (p.Glu256Ter)
c.*827G>T (n.*827G>T)
c.889G>T (p.Glu297Ter)
c.251+8259G>T
c.919G>T (p.Glu307Ter)
c.*926G>T (n.*926G>T)
c.775G>T (p.Glu259Ter)
c.883G>T (p.Glu295Ter)
c.954G>T (p.Arg318Ser)
c.838G>T (p.Glu280Ter)
17g.6425660C=CA2245346920AIPL1c.955G= (p.Glu319=)
c.766G= (p.Glu256=)
c.*827G= (n.*827G=)
c.889G= (p.Glu297=)
c.251+8259G=
c.919G= (p.Glu307=)
c.*926G= (n.*926G=)
c.775G= (p.Glu259=)
c.883G= (p.Glu295=)
c.954G= (p.Arg318=)
c.838G= (p.Glu280=)
17g.6425660C>GCA397394561AIPL1c.955G>C (p.Glu319Gln)
c.766G>C (p.Glu256Gln)
c.*827G>C (n.*827G>C)
c.889G>C (p.Glu297Gln)
c.251+8259G>C
c.919G>C (p.Glu307Gln)
c.*926G>C (n.*926G>C)
c.775G>C (p.Glu259Gln)
c.883G>C (p.Glu295Gln)
c.954G>C (p.Arg318Ser)
c.838G>C (p.Glu280Gln)
 dbSNP gnomAD v3 gnomAD v4
17g.6425660C>TCA397394562AIPL1c.955G>A (p.Glu319Lys)
c.766G>A (p.Glu256Lys)
c.*827G>A (n.*827G>A)
c.889G>A (p.Glu297Lys)
c.251+8259G>A
c.919G>A (p.Glu307Lys)
c.*926G>A (n.*926G>A)
c.775G>A (p.Glu259Lys)
c.883G>A (p.Glu295Lys)
c.954G>A (p.Arg318=)
c.838G>A (p.Glu280Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425661C>ACA397394564AIPL1c.954G>T (p.Glu318Asp)
c.765G>T (p.Glu255Asp)
c.*826G>T (n.*826G>T)
c.888G>T (p.Glu296Asp)
c.251+8258G>T
c.918G>T (p.Glu306Asp)
c.*925G>T (n.*925G>T)
c.774G>T (p.Glu258Asp)
c.882G>T (p.Glu294Asp)
c.953G>T (p.Arg318Met)
c.837G>T (p.Glu279Asp)
17g.6425661C>GCA397394565AIPL1c.954G>C (p.Glu318Asp)
c.765G>C (p.Glu255Asp)
c.*826G>C (n.*826G>C)
c.888G>C (p.Glu296Asp)
c.251+8258G>C
c.918G>C (p.Glu306Asp)
c.*925G>C (n.*925G>C)
c.774G>C (p.Glu258Asp)
c.882G>C (p.Glu294Asp)
c.953G>C (p.Arg318Thr)
c.837G>C (p.Glu279Asp)
17g.6425661C>TCA397394563AIPL1c.954G>A (p.Glu318=)
c.765G>A (p.Glu255=)
c.*826G>A (n.*826G>A)
c.888G>A (p.Glu296=)
c.251+8258G>A
c.918G>A (p.Glu306=)
c.*925G>A (n.*925G>A)
c.774G>A (p.Glu258=)
c.882G>A (p.Glu294=)
c.953G>A (p.Arg318Lys)
c.837G>A (p.Glu279=)
 gnomAD v4
17g.6425662T>ACA397394566AIPL1c.953A>T (p.Glu318Val)
c.764A>T (p.Glu255Val)
c.*825A>T (n.*825A>T)
c.887A>T (p.Glu296Val)
c.251+8257A>T
c.917A>T (p.Glu306Val)
c.*924A>T (n.*924A>T)
c.773A>T (p.Glu258Val)
c.881A>T (p.Glu294Val)
c.952A>T (p.Arg318Trp)
c.836A>T (p.Glu279Val)
17g.6425662T>CCA397394567AIPL1c.953A>G (p.Glu318Gly)
c.764A>G (p.Glu255Gly)
c.*825A>G (n.*825A>G)
c.887A>G (p.Glu296Gly)
c.251+8257A>G
c.917A>G (p.Glu306Gly)
c.*924A>G (n.*924A>G)
c.773A>G (p.Glu258Gly)
c.881A>G (p.Glu294Gly)
c.952A>G (p.Arg318Gly)
c.836A>G (p.Glu279Gly)
17g.6425662T>GCA397394568AIPL1c.953A>C (p.Glu318Ala)
c.764A>C (p.Glu255Ala)
c.*825A>C (n.*825A>C)
c.887A>C (p.Glu296Ala)
c.251+8257A>C
c.917A>C (p.Glu306Ala)
c.*924A>C (n.*924A>C)
c.773A>C (p.Glu258Ala)
c.881A>C (p.Glu294Ala)
c.952A>C (p.Arg318=)
c.836A>C (p.Glu279Ala)
17g.6425663C>ACA397394569AIPL1c.952G>T (p.Glu318Ter)
c.763G>T (p.Glu255Ter)
c.*824G>T (n.*824G>T)
c.886G>T (p.Glu296Ter)
c.251+8256G>T
c.916G>T (p.Glu306Ter)
c.*923G>T (n.*923G>T)
c.772G>T (p.Glu258Ter)
c.880G>T (p.Glu294Ter)
c.951G>T (p.Arg317Ser)
c.835G>T (p.Glu279Ter)
17g.6425663C=CA2245346922AIPL1c.952G= (p.Glu318=)
c.763G= (p.Glu255=)
c.*824G= (n.*824G=)
c.886G= (p.Glu296=)
c.251+8256G=
c.916G= (p.Glu306=)
c.*923G= (n.*923G=)
c.772G= (p.Glu258=)
c.880G= (p.Glu294=)
c.951G= (p.Arg317=)
c.835G= (p.Glu279=)
17g.6425663C>GCA397394570AIPL1c.952G>C (p.Glu318Gln)
c.763G>C (p.Glu255Gln)
c.*824G>C (n.*824G>C)
c.886G>C (p.Glu296Gln)
c.251+8256G>C
c.916G>C (p.Glu306Gln)
c.*923G>C (n.*923G>C)
c.772G>C (p.Glu258Gln)
c.880G>C (p.Glu294Gln)
c.951G>C (p.Arg317Ser)
c.835G>C (p.Glu279Gln)
17g.6425663C>TCA397394571AIPL1c.952G>A (p.Glu318Lys)
c.763G>A (p.Glu255Lys)
c.*824G>A (n.*824G>A)
c.886G>A (p.Glu296Lys)
c.251+8256G>A
c.916G>A (p.Glu306Lys)
c.*923G>A (n.*923G>A)
c.772G>A (p.Glu258Lys)
c.880G>A (p.Glu294Lys)
c.951G>A (p.Arg317=)
c.835G>A (p.Glu279Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425664C>ACA397394572AIPL1c.951G>T (p.Glu317Asp)
c.762G>T (p.Glu254Asp)
c.*823G>T (n.*823G>T)
c.885G>T (p.Glu295Asp)
c.251+8255G>T
c.915G>T (p.Glu305Asp)
c.*922G>T (n.*922G>T)
c.771G>T (p.Glu257Asp)
c.879G>T (p.Glu293Asp)
c.950G>T (p.Arg317Met)
c.834G>T (p.Glu278Asp)
17g.6425664C=CA2245346924AIPL1c.951G= (p.Glu317=)
c.762G= (p.Glu254=)
c.*823G= (n.*823G=)
c.885G= (p.Glu295=)
c.251+8255G=
c.915G= (p.Glu305=)
c.*922G= (n.*922G=)
c.771G= (p.Glu257=)
c.879G= (p.Glu293=)
c.950G= (p.Arg317=)
c.834G= (p.Glu278=)
17g.6425664C>GCA397394573AIPL1c.951G>C (p.Glu317Asp)
c.762G>C (p.Glu254Asp)
c.*823G>C (n.*823G>C)
c.885G>C (p.Glu295Asp)
c.251+8255G>C
c.915G>C (p.Glu305Asp)
c.*922G>C (n.*922G>C)
c.771G>C (p.Glu257Asp)
c.879G>C (p.Glu293Asp)
c.950G>C (p.Arg317Thr)
c.834G>C (p.Glu278Asp)
17g.6425664C>TCA397394574AIPL1c.951G>A (p.Glu317=)
c.762G>A (p.Glu254=)
c.*823G>A (n.*823G>A)
c.885G>A (p.Glu295=)
c.251+8255G>A
c.915G>A (p.Glu305=)
c.*922G>A (n.*922G>A)
c.771G>A (p.Glu257=)
c.879G>A (p.Glu293=)
c.950G>A (p.Arg317Lys)
c.834G>A (p.Glu278=)
17g.6425665T>ACA397394575AIPL1c.950A>T (p.Glu317Val)
c.761A>T (p.Glu254Val)
c.*822A>T (n.*822A>T)
c.884A>T (p.Glu295Val)
c.251+8254A>T
c.914A>T (p.Glu305Val)
c.*921A>T (n.*921A>T)
c.770A>T (p.Glu257Val)
c.878A>T (p.Glu293Val)
c.949A>T (p.Arg317Trp)
c.833A>T (p.Glu278Val)
17g.6425665T>CCA8328349AIPL1c.950A>G (p.Glu317Gly)
c.761A>G (p.Glu254Gly)
c.*822A>G (n.*822A>G)
c.884A>G (p.Glu295Gly)
c.251+8254A>G
c.914A>G (p.Glu305Gly)
c.*921A>G (n.*921A>G)
c.770A>G (p.Glu257Gly)
c.878A>G (p.Glu293Gly)
c.949A>G (p.Arg317Gly)
c.833A>G (p.Glu278Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425665T>GCA397394576AIPL1c.950A>C (p.Glu317Ala)
c.761A>C (p.Glu254Ala)
c.*822A>C (n.*822A>C)
c.884A>C (p.Glu295Ala)
c.251+8254A>C
c.914A>C (p.Glu305Ala)
c.*921A>C (n.*921A>C)
c.770A>C (p.Glu257Ala)
c.878A>C (p.Glu293Ala)
c.949A>C (p.Arg317=)
c.833A>C (p.Glu278Ala)
17g.6425665T=CA2245346929AIPL1c.950A= (p.Glu317=)
c.761A= (p.Glu254=)
c.*822A= (n.*822A=)
c.884A= (p.Glu295=)
c.251+8254A=
c.914A= (p.Glu305=)
c.*921A= (n.*921A=)
c.770A= (p.Glu257=)
c.878A= (p.Glu293=)
c.949A= (p.Arg317=)
c.833A= (p.Glu278=)
17g.6425665dupCA8328348AIPL1c.950dup (p.Glu318GlyfsTer?)
c.761dup (p.Glu255GlyfsTer?)
c.*822dup (n.*822dup)
c.884dup (p.Glu296GlyfsTer?)
c.251+8254dup
c.914dup (p.Glu306GlyfsTer?)
c.*921dup (n.*921dup)
c.770dup (p.Glu258GlyfsTer?)
c.878dup (p.Glu294GlyfsTer?)
c.949dup (p.Arg317LysfsTer?)
c.833dup (p.Glu279GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425666C>ACA397394578AIPL1c.949G>T (p.Glu317Ter)
c.760G>T (p.Glu254Ter)
c.*821G>T (n.*821G>T)
c.883G>T (p.Glu295Ter)
c.251+8253G>T
c.913G>T (p.Glu305Ter)
c.*920G>T (n.*920G>T)
c.769G>T (p.Glu257Ter)
c.877G>T (p.Glu293Ter)
c.948G>T (p.Arg316Ser)
c.832G>T (p.Glu278Ter)
 gnomAD v4
17g.6425666C=CA2245346932AIPL1c.949G= (p.Glu317=)
c.760G= (p.Glu254=)
c.*821G= (n.*821G=)
c.883G= (p.Glu295=)
c.251+8253G=
c.913G= (p.Glu305=)
c.*920G= (n.*920G=)
c.769G= (p.Glu257=)
c.877G= (p.Glu293=)
c.948G= (p.Arg316=)
c.832G= (p.Glu278=)
17g.6425666C>GCA397394577AIPL1c.949G>C (p.Glu317Gln)
c.760G>C (p.Glu254Gln)
c.*821G>C (n.*821G>C)
c.883G>C (p.Glu295Gln)
c.251+8253G>C
c.913G>C (p.Glu305Gln)
c.*920G>C (n.*920G>C)
c.769G>C (p.Glu257Gln)
c.877G>C (p.Glu293Gln)
c.948G>C (p.Arg316Ser)
c.832G>C (p.Glu278Gln)
17g.6425666C>TCA8328350AIPL1c.949G>A (p.Glu317Lys)
c.760G>A (p.Glu254Lys)
c.*821G>A (n.*821G>A)
c.883G>A (p.Glu295Lys)
c.251+8253G>A
c.913G>A (p.Glu305Lys)
c.*920G>A (n.*920G>A)
c.769G>A (p.Glu257Lys)
c.877G>A (p.Glu293Lys)
c.948G>A (p.Arg316=)
c.832G>A (p.Glu278Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425667C>ACA397394579AIPL1c.948G>T (p.Gln316His)
c.759G>T (p.Gln253His)
c.*820G>T (n.*820G>T)
c.882G>T (p.Gln294His)
c.251+8252G>T
c.912G>T (p.Gln304His)
c.*919G>T (n.*919G>T)
c.768G>T (p.Gln256His)
c.876G>T (p.Gln292His)
c.947G>T (p.Arg316Met)
c.831G>T (p.Gln277His)
 gnomAD v4
17g.6425667C>GCA397394580AIPL1c.948G>C (p.Gln316His)
c.759G>C (p.Gln253His)
c.*820G>C (n.*820G>C)
c.882G>C (p.Gln294His)
c.251+8252G>C
c.912G>C (p.Gln304His)
c.*919G>C (n.*919G>C)
c.768G>C (p.Gln256His)
c.876G>C (p.Gln292His)
c.947G>C (p.Arg316Thr)
c.831G>C (p.Gln277His)
17g.6425667C>TCA397394581AIPL1c.948G>A (p.Gln316=)
c.759G>A (p.Gln253=)
c.*820G>A (n.*820G>A)
c.882G>A (p.Gln294=)
c.251+8252G>A
c.912G>A (p.Gln304=)
c.*919G>A (n.*919G>A)
c.768G>A (p.Gln256=)
c.876G>A (p.Gln292=)
c.947G>A (p.Arg316Lys)
c.831G>A (p.Gln277=)
17g.6425668T>ACA397394582AIPL1c.947A>T (p.Gln316Leu)
c.758A>T (p.Gln253Leu)
c.*819A>T (n.*819A>T)
c.881A>T (p.Gln294Leu)
c.251+8251A>T
c.911A>T (p.Gln304Leu)
c.*918A>T (n.*918A>T)
c.767A>T (p.Gln256Leu)
c.875A>T (p.Gln292Leu)
c.946A>T (p.Arg316Trp)
c.830A>T (p.Gln277Leu)
17g.6425668T>CCA397394583AIPL1c.947A>G (p.Gln316Arg)
c.758A>G (p.Gln253Arg)
c.*819A>G (n.*819A>G)
c.881A>G (p.Gln294Arg)
c.251+8251A>G
c.911A>G (p.Gln304Arg)
c.*918A>G (n.*918A>G)
c.767A>G (p.Gln256Arg)
c.875A>G (p.Gln292Arg)
c.946A>G (p.Arg316Gly)
c.830A>G (p.Gln277Arg)
17g.6425668T>GCA397394584AIPL1c.947A>C (p.Gln316Pro)
c.758A>C (p.Gln253Pro)
c.*819A>C (n.*819A>C)
c.881A>C (p.Gln294Pro)
c.251+8251A>C
c.911A>C (p.Gln304Pro)
c.*918A>C (n.*918A>C)
c.767A>C (p.Gln256Pro)
c.875A>C (p.Gln292Pro)
c.946A>C (p.Arg316=)
c.830A>C (p.Gln277Pro)
17g.6425669G>ACA397394585AIPL1c.946C>T (p.Gln316Ter)
c.757C>T (p.Gln253Ter)
c.*818C>T (n.*818C>T)
c.880C>T (p.Gln294Ter)
c.251+8250C>T
c.910C>T (p.Gln304Ter)
c.*917C>T (n.*917C>T)
c.766C>T (p.Gln256Ter)
c.874C>T (p.Gln292Ter)
c.945C>T (p.Ser315=)
c.829C>T (p.Gln277Ter)
 gnomAD v4
17g.6425669G>CCA397394586AIPL1c.946C>G (p.Gln316Glu)
c.757C>G (p.Gln253Glu)
c.*818C>G (n.*818C>G)
c.880C>G (p.Gln294Glu)
c.251+8250C>G
c.910C>G (p.Gln304Glu)
c.*917C>G (n.*917C>G)
c.766C>G (p.Gln256Glu)
c.874C>G (p.Gln292Glu)
c.945C>G (p.Ser315Arg)
c.829C>G (p.Gln277Glu)
17g.6425669G>TCA397394587AIPL1c.946C>A (p.Gln316Lys)
c.757C>A (p.Gln253Lys)
c.*818C>A (n.*818C>A)
c.880C>A (p.Gln294Lys)
c.251+8250C>A
c.910C>A (p.Gln304Lys)
c.*917C>A (n.*917C>A)
c.766C>A (p.Gln256Lys)
c.874C>A (p.Gln292Lys)
c.945C>A (p.Ser315Arg)
c.829C>A (p.Gln277Lys)
 gnomAD v4
17g.6425670C>ACA397394588AIPL1c.945G>T (p.Lys315Asn)
c.756G>T (p.Lys252Asn)
c.*817G>T (n.*817G>T)
c.879G>T (p.Lys293Asn)
c.251+8249G>T
c.909G>T (p.Lys303Asn)
c.*916G>T (n.*916G>T)
c.765G>T (p.Lys255Asn)
c.873G>T (p.Lys291Asn)
c.944G>T (p.Ser315Ile)
c.828G>T (p.Lys276Asn)
17g.6425670C>GCA397394589AIPL1c.945G>C (p.Lys315Asn)
c.756G>C (p.Lys252Asn)
c.*817G>C (n.*817G>C)
c.879G>C (p.Lys293Asn)
c.251+8249G>C
c.909G>C (p.Lys303Asn)
c.*916G>C (n.*916G>C)
c.765G>C (p.Lys255Asn)
c.873G>C (p.Lys291Asn)
c.944G>C (p.Ser315Thr)
c.828G>C (p.Lys276Asn)
17g.6425670C>TCA397394590AIPL1c.945G>A (p.Lys315=)
c.756G>A (p.Lys252=)
c.*817G>A (n.*817G>A)
c.879G>A (p.Lys293=)
c.251+8249G>A
c.909G>A (p.Lys303=)
c.*916G>A (n.*916G>A)
c.765G>A (p.Lys255=)
c.873G>A (p.Lys291=)
c.944G>A (p.Ser315Asn)
c.828G>A (p.Lys276=)
17g.6425671T>ACA397394593AIPL1c.944A>T (p.Lys315Met)
c.755A>T (p.Lys252Met)
c.*816A>T (n.*816A>T)
c.878A>T (p.Lys293Met)
c.251+8248A>T
c.908A>T (p.Lys303Met)
c.*915A>T (n.*915A>T)
c.764A>T (p.Lys255Met)
c.872A>T (p.Lys291Met)
c.943A>T (p.Ser315Cys)
c.827A>T (p.Lys276Met)
17g.6425671T>CCA397394592AIPL1c.944A>G (p.Lys315Arg)
c.755A>G (p.Lys252Arg)
c.*816A>G (n.*816A>G)
c.878A>G (p.Lys293Arg)
c.251+8248A>G
c.908A>G (p.Lys303Arg)
c.*915A>G (n.*915A>G)
c.764A>G (p.Lys255Arg)
c.872A>G (p.Lys291Arg)
c.943A>G (p.Ser315Gly)
c.827A>G (p.Lys276Arg)
17g.6425671T>GCA397394591AIPL1c.944A>C (p.Lys315Thr)
c.755A>C (p.Lys252Thr)
c.*816A>C (n.*816A>C)
c.878A>C (p.Lys293Thr)
c.251+8248A>C
c.908A>C (p.Lys303Thr)
c.*915A>C (n.*915A>C)
c.764A>C (p.Lys255Thr)
c.872A>C (p.Lys291Thr)
c.943A>C (p.Ser315Arg)
c.827A>C (p.Lys276Thr)
17g.6425672T>ACA397394594AIPL1c.943A>T (p.Lys315Ter)
c.754A>T (p.Lys252Ter)
c.*815A>T (n.*815A>T)
c.877A>T (p.Lys293Ter)
c.251+8247A>T
c.907A>T (p.Lys303Ter)
c.*914A>T (n.*914A>T)
c.763A>T (p.Lys255Ter)
c.871A>T (p.Lys291Ter)
c.942A>T (p.Arg314Ser)
c.826A>T (p.Lys276Ter)
17g.6425672T>CCA397394596AIPL1c.943A>G (p.Lys315Glu)
c.754A>G (p.Lys252Glu)
c.*815A>G (n.*815A>G)
c.877A>G (p.Lys293Glu)
c.251+8247A>G
c.907A>G (p.Lys303Glu)
c.*914A>G (n.*914A>G)
c.763A>G (p.Lys255Glu)
c.871A>G (p.Lys291Glu)
c.942A>G (p.Arg314=)
c.826A>G (p.Lys276Glu)
17g.6425672T>GCA397394595AIPL1c.943A>C (p.Lys315Gln)
c.754A>C (p.Lys252Gln)
c.*815A>C (n.*815A>C)
c.877A>C (p.Lys293Gln)
c.251+8247A>C
c.907A>C (p.Lys303Gln)
c.*914A>C (n.*914A>C)
c.763A>C (p.Lys255Gln)
c.871A>C (p.Lys291Gln)
c.942A>C (p.Arg314Ser)
c.826A>C (p.Lys276Gln)
17g.6425673C>ACA397394597AIPL1c.942G>T (p.Glu314Asp)
c.753G>T (p.Glu251Asp)
c.*814G>T (n.*814G>T)
c.876G>T (p.Glu292Asp)
c.251+8246G>T
c.906G>T (p.Glu302Asp)
c.*913G>T (n.*913G>T)
c.762G>T (p.Glu254Asp)
c.870G>T (p.Glu290Asp)
c.941G>T (p.Arg314Ile)
c.825G>T (p.Glu275Asp)
17g.6425673C>GCA397394599AIPL1c.942G>C (p.Glu314Asp)
c.753G>C (p.Glu251Asp)
c.*814G>C (n.*814G>C)
c.876G>C (p.Glu292Asp)
c.251+8246G>C
c.906G>C (p.Glu302Asp)
c.*913G>C (n.*913G>C)
c.762G>C (p.Glu254Asp)
c.870G>C (p.Glu290Asp)
c.941G>C (p.Arg314Thr)
c.825G>C (p.Glu275Asp)
17g.6425673C>TCA397394598AIPL1c.942G>A (p.Glu314=)
c.753G>A (p.Glu251=)
c.*814G>A (n.*814G>A)
c.876G>A (p.Glu292=)
c.251+8246G>A
c.906G>A (p.Glu302=)
c.*913G>A (n.*913G>A)
c.762G>A (p.Glu254=)
c.870G>A (p.Glu290=)
c.941G>A (p.Arg314Lys)
c.825G>A (p.Glu275=)
17g.6425674T>ACA397394600AIPL1c.941A>T (p.Glu314Val)
c.752A>T (p.Glu251Val)
c.*813A>T (n.*813A>T)
c.875A>T (p.Glu292Val)
c.251+8245A>T
c.905A>T (p.Glu302Val)
c.*912A>T (n.*912A>T)
c.761A>T (p.Glu254Val)
c.869A>T (p.Glu290Val)
c.940A>T (p.Arg314Ter)
c.824A>T (p.Glu275Val)
17g.6425674T>CCA397394601AIPL1c.941A>G (p.Glu314Gly)
c.752A>G (p.Glu251Gly)
c.*813A>G (n.*813A>G)
c.875A>G (p.Glu292Gly)
c.251+8245A>G
c.905A>G (p.Glu302Gly)
c.*912A>G (n.*912A>G)
c.761A>G (p.Glu254Gly)
c.869A>G (p.Glu290Gly)
c.940A>G (p.Arg314Gly)
c.824A>G (p.Glu275Gly)
17g.6425674T>GCA397394602AIPL1c.941A>C (p.Glu314Ala)
c.752A>C (p.Glu251Ala)
c.*813A>C (n.*813A>C)
c.875A>C (p.Glu292Ala)
c.251+8245A>C
c.905A>C (p.Glu302Ala)
c.*912A>C (n.*912A>C)
c.761A>C (p.Glu254Ala)
c.869A>C (p.Glu290Ala)
c.940A>C (p.Arg314=)
c.824A>C (p.Glu275Ala)
17g.6425675C>ACA397394603AIPL1c.940G>T (p.Glu314Ter)
c.751G>T (p.Glu251Ter)
c.*812G>T (n.*812G>T)
c.874G>T (p.Glu292Ter)
c.251+8244G>T
c.904G>T (p.Glu302Ter)
c.*911G>T (n.*911G>T)
c.760G>T (p.Glu254Ter)
c.868G>T (p.Glu290Ter)
c.939G>T (p.Arg313=)
c.823G>T (p.Glu275Ter)
17g.6425675C=CA2245346934AIPL1c.940G= (p.Glu314=)
c.751G= (p.Glu251=)
c.*812G= (n.*812G=)
c.874G= (p.Glu292=)
c.251+8244G=
c.904G= (p.Glu302=)
c.*911G= (n.*911G=)
c.760G= (p.Glu254=)
c.868G= (p.Glu290=)
c.939G= (p.Arg313=)
c.823G= (p.Glu275=)
17g.6425675C>GCA397394604AIPL1c.940G>C (p.Glu314Gln)
c.751G>C (p.Glu251Gln)
c.*812G>C (n.*812G>C)
c.874G>C (p.Glu292Gln)
c.251+8244G>C
c.904G>C (p.Glu302Gln)
c.*911G>C (n.*911G>C)
c.760G>C (p.Glu254Gln)
c.868G>C (p.Glu290Gln)
c.939G>C (p.Arg313=)
c.823G>C (p.Glu275Gln)
 gnomAD v4
17g.6425675C>TCA8328351AIPL1c.940G>A (p.Glu314Lys)
c.751G>A (p.Glu251Lys)
c.*812G>A (n.*812G>A)
c.874G>A (p.Glu292Lys)
c.251+8244G>A
c.904G>A (p.Glu302Lys)
c.*911G>A (n.*911G>A)
c.760G>A (p.Glu254Lys)
c.868G>A (p.Glu290Lys)
c.939G>A (p.Arg313=)
c.823G>A (p.Glu275Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425676C>ACA397394605AIPL1c.939G>T (p.Ala313=)
c.750G>T (p.Ala250=)
c.*811G>T (n.*811G>T)
c.873G>T (p.Ala291=)
c.251+8243G>T
c.903G>T (p.Ala301=)
c.*910G>T (n.*910G>T)
c.759G>T (p.Ala253=)
c.867G>T (p.Ala289=)
c.938G>T (p.Arg313Leu)
c.822G>T (p.Ala274=)
17g.6425676C=CA2245346937AIPL1c.939G= (p.Ala313=)
c.750G= (p.Ala250=)
c.*811G= (n.*811G=)
c.873G= (p.Ala291=)
c.251+8243G=
c.903G= (p.Ala301=)
c.*910G= (n.*910G=)
c.759G= (p.Ala253=)
c.867G= (p.Ala289=)
c.938G= (p.Arg313=)
c.822G= (p.Ala274=)
17g.6425676C>GCA397394606AIPL1c.939G>C (p.Ala313=)
c.750G>C (p.Ala250=)
c.*811G>C (n.*811G>C)
c.873G>C (p.Ala291=)
c.251+8243G>C
c.903G>C (p.Ala301=)
c.*910G>C (n.*910G>C)
c.759G>C (p.Ala253=)
c.867G>C (p.Ala289=)
c.938G>C (p.Arg313Pro)
c.822G>C (p.Ala274=)
 ClinVar gnomAD v4
17g.6425676C>TCA287323813AIPL1c.939G>A (p.Ala313=)
c.750G>A (p.Ala250=)
c.*811G>A (n.*811G>A)
c.873G>A (p.Ala291=)
c.251+8243G>A
c.903G>A (p.Ala301=)
c.*910G>A (n.*910G>A)
c.759G>A (p.Ala253=)
c.867G>A (p.Ala289=)
c.938G>A (p.Arg313Gln)
c.822G>A (p.Ala274=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6425677G>ACA8328352AIPL1c.938C>T (p.Ala313Val)
c.749C>T (p.Ala250Val)
c.*810C>T (n.*810C>T)
c.872C>T (p.Ala291Val)
c.251+8242C>T
c.902C>T (p.Ala301Val)
c.*909C>T (n.*909C>T)
c.758C>T (p.Ala253Val)
c.866C>T (p.Ala289Val)
c.937C>T (p.Arg313Trp)
c.821C>T (p.Ala274Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425677G>CCA397394607AIPL1c.938C>G (p.Ala313Gly)
c.749C>G (p.Ala250Gly)
c.*810C>G (n.*810C>G)
c.872C>G (p.Ala291Gly)
c.251+8242C>G
c.902C>G (p.Ala301Gly)
c.*909C>G (n.*909C>G)
c.758C>G (p.Ala253Gly)
c.866C>G (p.Ala289Gly)
c.937C>G (p.Arg313Gly)
c.821C>G (p.Ala274Gly)
17g.6425677G=CA2245346942AIPL1c.938C= (p.Ala313=)
c.749C= (p.Ala250=)
c.*810C= (n.*810C=)
c.872C= (p.Ala291=)
c.251+8242C=
c.902C= (p.Ala301=)
c.*909C= (n.*909C=)
c.758C= (p.Ala253=)
c.866C= (p.Ala289=)
c.937C= (p.Arg313=)
c.821C= (p.Ala274=)
17g.6425677G>TCA397394608AIPL1c.938C>A (p.Ala313Glu)
c.749C>A (p.Ala250Glu)
c.*810C>A (n.*810C>A)
c.872C>A (p.Ala291Glu)
c.251+8242C>A
c.902C>A (p.Ala301Glu)
c.*909C>A (n.*909C>A)
c.758C>A (p.Ala253Glu)
c.866C>A (p.Ala289Glu)
c.937C>A (p.Arg313=)
c.821C>A (p.Ala274Glu)
 gnomAD v4
17g.6425678C>ACA228922AIPL1c.937G>T (p.Ala313Ser)
c.748G>T (p.Ala250Ser)
c.*809G>T (n.*809G>T)
c.871G>T (p.Ala291Ser)
c.251+8241G>T
c.901G>T (p.Ala301Ser)
c.*908G>T (n.*908G>T)
c.757G>T (p.Ala253Ser)
c.865G>T (p.Ala289Ser)
c.936G>T (p.Trp312Cys)
c.820G>T (p.Ala274Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425678C=CA2245346946AIPL1c.937G= (p.Ala313=)
c.748G= (p.Ala250=)
c.*809G= (n.*809G=)
c.871G= (p.Ala291=)
c.251+8241G=
c.901G= (p.Ala301=)
c.*908G= (n.*908G=)
c.757G= (p.Ala253=)
c.865G= (p.Ala289=)
c.936G= (p.Trp312=)
c.820G= (p.Ala274=)
17g.6425678C>GCA397394609AIPL1c.937G>C (p.Ala313Pro)
c.748G>C (p.Ala250Pro)
c.*809G>C (n.*809G>C)
c.871G>C (p.Ala291Pro)
c.251+8241G>C
c.901G>C (p.Ala301Pro)
c.*908G>C (n.*908G>C)
c.757G>C (p.Ala253Pro)
c.865G>C (p.Ala289Pro)
c.936G>C (p.Trp312Cys)
c.820G>C (p.Ala274Pro)
17g.6425678C>TCA287323859AIPL1c.937G>A (p.Ala313Thr)
c.748G>A (p.Ala250Thr)
c.*809G>A (n.*809G>A)
c.871G>A (p.Ala291Thr)
c.251+8241G>A
c.901G>A (p.Ala301Thr)
c.*908G>A (n.*908G>A)
c.757G>A (p.Ala253Thr)
c.865G>A (p.Ala289Thr)
c.936G>A (p.Trp312Ter)
c.820G>A (p.Ala274Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.6425679dupCA2245346944AIPL1c.937dup (p.Ala313GlyfsTer?)
c.748dup (p.Ala250GlyfsTer?)
c.*809dup (n.*809dup)
c.871dup (p.Ala291GlyfsTer?)
c.251+8241dup
c.901dup (p.Ala301GlyfsTer?)
c.*908dup (n.*908dup)
c.757dup (p.Ala253GlyfsTer?)
c.865dup (p.Ala289GlyfsTer?)
c.936dup (p.Arg313AlafsTer?)
c.820dup (p.Ala274GlyfsTer?)
 dbSNP
17g.6425679C>ACA397394610AIPL1c.936G>T (p.Met312Ile)
c.747G>T (p.Met249Ile)
c.*808G>T (n.*808G>T)
c.870G>T (p.Met290Ile)
c.251+8240G>T
c.900G>T (p.Met300Ile)
c.*907G>T (n.*907G>T)
c.756G>T (p.Met252Ile)
c.864G>T (p.Met288Ile)
c.935G>T (p.Trp312Leu)
c.819G>T (p.Met273Ile)
17g.6425679C=CA2245346948AIPL1c.936G= (p.Met312=)
c.747G= (p.Met249=)
c.*808G= (n.*808G=)
c.870G= (p.Met290=)
c.251+8240G=
c.900G= (p.Met300=)
c.*907G= (n.*907G=)
c.756G= (p.Met252=)
c.864G= (p.Met288=)
c.935G= (p.Trp312=)
c.819G= (p.Met273=)
17g.6425679C>GCA397394611AIPL1c.936G>C (p.Met312Ile)
c.747G>C (p.Met249Ile)
c.*808G>C (n.*808G>C)
c.870G>C (p.Met290Ile)
c.251+8240G>C
c.900G>C (p.Met300Ile)
c.*907G>C (n.*907G>C)
c.756G>C (p.Met252Ile)
c.864G>C (p.Met288Ile)
c.935G>C (p.Trp312Ser)
c.819G>C (p.Met273Ile)
17g.6425679C>TCA397394612AIPL1c.936G>A (p.Met312Ile)
c.747G>A (p.Met249Ile)
c.*808G>A (n.*808G>A)
c.870G>A (p.Met290Ile)
c.251+8240G>A
c.900G>A (p.Met300Ile)
c.*907G>A (n.*907G>A)
c.756G>A (p.Met252Ile)
c.864G>A (p.Met288Ile)
c.935G>A (p.Trp312Ter)
c.819G>A (p.Met273Ile)
 dbSNP
17g.6425680A=CA2245346950AIPL1c.935T= (p.Met312=)
c.746T= (p.Met249=)
c.*807T= (n.*807T=)
c.869T= (p.Met290=)
c.251+8239T=
c.899T= (p.Met300=)
c.*906T= (n.*906T=)
c.755T= (p.Met252=)
c.863T= (p.Met288=)
c.934T= (p.Trp312=)
c.818T= (p.Met273=)
17g.6425680A>CCA397394613AIPL1c.935T>G (p.Met312Arg)
c.746T>G (p.Met249Arg)
c.*807T>G (n.*807T>G)
c.869T>G (p.Met290Arg)
c.251+8239T>G
c.899T>G (p.Met300Arg)
c.*906T>G (n.*906T>G)
c.755T>G (p.Met252Arg)
c.863T>G (p.Met288Arg)
c.934T>G (p.Trp312Gly)
c.818T>G (p.Met273Arg)
 dbSNP
17g.6425680A>GCA397394614AIPL1c.935T>C (p.Met312Thr)
c.746T>C (p.Met249Thr)
c.*807T>C (n.*807T>C)
c.869T>C (p.Met290Thr)
c.251+8239T>C
c.899T>C (p.Met300Thr)
c.*906T>C (n.*906T>C)
c.755T>C (p.Met252Thr)
c.863T>C (p.Met288Thr)
c.934T>C (p.Trp312Arg)
c.818T>C (p.Met273Thr)
 dbSNP
17g.6425680A>TCA397394615AIPL1c.935T>A (p.Met312Lys)
c.746T>A (p.Met249Lys)
c.*807T>A (n.*807T>A)
c.869T>A (p.Met290Lys)
c.251+8239T>A
c.899T>A (p.Met300Lys)
c.*906T>A (n.*906T>A)
c.755T>A (p.Met252Lys)
c.863T>A (p.Met288Lys)
c.934T>A (p.Trp312Arg)
c.818T>A (p.Met273Lys)
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)

Number of alleles fetched