Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6425782C>ACA397394833AIPL1c.833G>T (p.Trp278Leu)
c.644G>T (p.Trp215Leu)
c.*705G>T (n.*705G>T)
c.767G>T (p.Trp256Leu)
c.251+8137G>T
c.797G>T (p.Trp266Leu)
c.*804G>T (n.*804G>T)
c.653G>T (p.Trp218Leu)
c.761G>T (p.Trp254Leu)
c.716G>T (p.Trp239Leu)
17g.6425782C>GCA397394832AIPL1c.833G>C (p.Trp278Ser)
c.644G>C (p.Trp215Ser)
c.*705G>C (n.*705G>C)
c.767G>C (p.Trp256Ser)
c.251+8137G>C
c.797G>C (p.Trp266Ser)
c.*804G>C (n.*804G>C)
c.653G>C (p.Trp218Ser)
c.761G>C (p.Trp254Ser)
c.716G>C (p.Trp239Ser)
17g.6425782C>TCA397394831AIPL1c.833G>A (p.Trp278Ter)
c.644G>A (p.Trp215Ter)
c.*705G>A (n.*705G>A)
c.767G>A (p.Trp256Ter)
c.251+8137G>A
c.797G>A (p.Trp266Ter)
c.*804G>A (n.*804G>A)
c.653G>A (p.Trp218Ter)
c.761G>A (p.Trp254Ter)
c.716G>A (p.Trp239Ter)
 COSMIC
17g.6425783A=CA2245347069AIPL1c.832T= (p.Trp278=)
c.643T= (p.Trp215=)
c.*704T= (n.*704T=)
c.766T= (p.Trp256=)
c.251+8136T=
c.796T= (p.Trp266=)
c.*803T= (n.*803T=)
c.652T= (p.Trp218=)
c.760T= (p.Trp254=)
c.715T= (p.Trp239=)
17g.6425783A>CCA397394834AIPL1c.832T>G (p.Trp278Gly)
c.643T>G (p.Trp215Gly)
c.*704T>G (n.*704T>G)
c.766T>G (p.Trp256Gly)
c.251+8136T>G
c.796T>G (p.Trp266Gly)
c.*803T>G (n.*803T>G)
c.652T>G (p.Trp218Gly)
c.760T>G (p.Trp254Gly)
c.715T>G (p.Trp239Gly)
17g.6425783A>GCA397394835AIPL1c.832T>C (p.Trp278Arg)
c.643T>C (p.Trp215Arg)
c.*704T>C (n.*704T>C)
c.766T>C (p.Trp256Arg)
c.251+8136T>C
c.796T>C (p.Trp266Arg)
c.*803T>C (n.*803T>C)
c.652T>C (p.Trp218Arg)
c.760T>C (p.Trp254Arg)
c.715T>C (p.Trp239Arg)
 dbSNP gnomAD v2
17g.6425783A>TCA397394836AIPL1c.832T>A (p.Trp278Arg)
c.643T>A (p.Trp215Arg)
c.*704T>A (n.*704T>A)
c.766T>A (p.Trp256Arg)
c.251+8136T>A
c.796T>A (p.Trp266Arg)
c.*803T>A (n.*803T>A)
c.652T>A (p.Trp218Arg)
c.760T>A (p.Trp254Arg)
c.715T>A (p.Trp239Arg)
17g.6425784C>ACA497687457AIPL1c.831G>T (p.Val277=)
c.642G>T (p.Val214=)
c.*703G>T (n.*703G>T)
c.765G>T (p.Val255=)
c.251+8135G>T
c.795G>T (p.Val265=)
c.*802G>T (n.*802G>T)
c.651G>T (p.Val217=)
c.759G>T (p.Val253=)
c.714G>T (p.Val238=)
17g.6425784C=CA2245347071AIPL1c.831G= (p.Val277=)
c.642G= (p.Val214=)
c.*703G= (n.*703G=)
c.765G= (p.Val255=)
c.251+8135G=
c.795G= (p.Val265=)
c.*802G= (n.*802G=)
c.651G= (p.Val217=)
c.759G= (p.Val253=)
c.714G= (p.Val238=)
17g.6425784C>GCA497687456AIPL1c.831G>C (p.Val277=)
c.642G>C (p.Val214=)
c.*703G>C (n.*703G>C)
c.765G>C (p.Val255=)
c.251+8135G>C
c.795G>C (p.Val265=)
c.*802G>C (n.*802G>C)
c.651G>C (p.Val217=)
c.759G>C (p.Val253=)
c.714G>C (p.Val238=)
17g.6425784C>TCA497687455AIPL1c.831G>A (p.Val277=)
c.642G>A (p.Val214=)
c.*703G>A (n.*703G>A)
c.765G>A (p.Val255=)
c.251+8135G>A
c.795G>A (p.Val265=)
c.*802G>A (n.*802G>A)
c.651G>A (p.Val217=)
c.759G>A (p.Val253=)
c.714G>A (p.Val238=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425785A>CCA397394837AIPL1c.830T>G (p.Val277Gly)
c.641T>G (p.Val214Gly)
c.*702T>G (n.*702T>G)
c.764T>G (p.Val255Gly)
c.251+8134T>G
c.794T>G (p.Val265Gly)
c.*801T>G (n.*801T>G)
c.650T>G (p.Val217Gly)
c.758T>G (p.Val253Gly)
c.713T>G (p.Val238Gly)
17g.6425785A>GCA397394838AIPL1c.830T>C (p.Val277Ala)
c.641T>C (p.Val214Ala)
c.*702T>C (n.*702T>C)
c.764T>C (p.Val255Ala)
c.251+8134T>C
c.794T>C (p.Val265Ala)
c.*801T>C (n.*801T>C)
c.650T>C (p.Val217Ala)
c.758T>C (p.Val253Ala)
c.713T>C (p.Val238Ala)
17g.6425785A>TCA397394839AIPL1c.830T>A (p.Val277Glu)
c.641T>A (p.Val214Glu)
c.*702T>A (n.*702T>A)
c.764T>A (p.Val255Glu)
c.251+8134T>A
c.794T>A (p.Val265Glu)
c.*801T>A (n.*801T>A)
c.650T>A (p.Val217Glu)
c.758T>A (p.Val253Glu)
c.713T>A (p.Val238Glu)
17g.6425786C>ACA397394840AIPL1c.829G>T (p.Val277Leu)
c.640G>T (p.Val214Leu)
c.*701G>T (n.*701G>T)
c.763G>T (p.Val255Leu)
c.251+8133G>T
c.793G>T (p.Val265Leu)
c.*800G>T (n.*800G>T)
c.649G>T (p.Val217Leu)
c.757G>T (p.Val253Leu)
c.712G>T (p.Val238Leu)
 gnomAD v4
17g.6425786C>GCA397394841AIPL1c.829G>C (p.Val277Leu)
c.640G>C (p.Val214Leu)
c.*701G>C (n.*701G>C)
c.763G>C (p.Val255Leu)
c.251+8133G>C
c.793G>C (p.Val265Leu)
c.*800G>C (n.*800G>C)
c.649G>C (p.Val217Leu)
c.757G>C (p.Val253Leu)
c.712G>C (p.Val238Leu)
17g.6425786C>TCA397394842AIPL1c.829G>A (p.Val277Met)
c.640G>A (p.Val214Met)
c.*701G>A (n.*701G>A)
c.763G>A (p.Val255Met)
c.251+8133G>A
c.793G>A (p.Val265Met)
c.*800G>A (n.*800G>A)
c.649G>A (p.Val217Met)
c.757G>A (p.Val253Met)
c.712G>A (p.Val238Met)
17g.6425787C>ACA397394843AIPL1c.828G>T (p.Glu276Asp)
c.639G>T (p.Glu213Asp)
c.*700G>T (n.*700G>T)
c.762G>T (p.Glu254Asp)
c.251+8132G>T
c.792G>T (p.Glu264Asp)
c.*799G>T (n.*799G>T)
c.648G>T (p.Glu216Asp)
c.756G>T (p.Glu252Asp)
c.711G>T (p.Glu237Asp)
 gnomAD v4
17g.6425787C=CA2245347074AIPL1c.828G= (p.Glu276=)
c.639G= (p.Glu213=)
c.*700G= (n.*700G=)
c.762G= (p.Glu254=)
c.251+8132G=
c.792G= (p.Glu264=)
c.*799G= (n.*799G=)
c.648G= (p.Glu216=)
c.756G= (p.Glu252=)
c.711G= (p.Glu237=)
17g.6425787C>GCA8328371AIPL1c.828G>C (p.Glu276Asp)
c.639G>C (p.Glu213Asp)
c.*700G>C (n.*700G>C)
c.762G>C (p.Glu254Asp)
c.251+8132G>C
c.792G>C (p.Glu264Asp)
c.*799G>C (n.*799G>C)
c.648G>C (p.Glu216Asp)
c.756G>C (p.Glu252Asp)
c.711G>C (p.Glu237Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425787C>TCA497687458AIPL1c.828G>A (p.Glu276=)
c.639G>A (p.Glu213=)
c.*700G>A (n.*700G>A)
c.762G>A (p.Glu254=)
c.251+8132G>A
c.792G>A (p.Glu264=)
c.*799G>A (n.*799G>A)
c.648G>A (p.Glu216=)
c.756G>A (p.Glu252=)
c.711G>A (p.Glu237=)
17g.6425788T>ACA397394844AIPL1c.827A>T (p.Glu276Val)
c.638A>T (p.Glu213Val)
c.*699A>T (n.*699A>T)
c.761A>T (p.Glu254Val)
c.251+8131A>T
c.791A>T (p.Glu264Val)
c.*798A>T (n.*798A>T)
c.647A>T (p.Glu216Val)
c.755A>T (p.Glu252Val)
c.710A>T (p.Glu237Val)
17g.6425788T>CCA397394845AIPL1c.827A>G (p.Glu276Gly)
c.638A>G (p.Glu213Gly)
c.*699A>G (n.*699A>G)
c.761A>G (p.Glu254Gly)
c.251+8131A>G
c.791A>G (p.Glu264Gly)
c.*798A>G (n.*798A>G)
c.647A>G (p.Glu216Gly)
c.755A>G (p.Glu252Gly)
c.710A>G (p.Glu237Gly)
17g.6425788T>GCA397394846AIPL1c.827A>C (p.Glu276Ala)
c.638A>C (p.Glu213Ala)
c.*699A>C (n.*699A>C)
c.761A>C (p.Glu254Ala)
c.251+8131A>C
c.791A>C (p.Glu264Ala)
c.*798A>C (n.*798A>C)
c.647A>C (p.Glu216Ala)
c.755A>C (p.Glu252Ala)
c.710A>C (p.Glu237Ala)
17g.6425789C>ACA397394848AIPL1c.826G>T (p.Glu276Ter)
c.637G>T (p.Glu213Ter)
c.*698G>T (n.*698G>T)
c.760G>T (p.Glu254Ter)
c.251+8130G>T
c.790G>T (p.Glu264Ter)
c.*797G>T (n.*797G>T)
c.646G>T (p.Glu216Ter)
c.754G>T (p.Glu252Ter)
c.709G>T (p.Glu237Ter)
 ClinVar dbSNP
17g.6425789C>GCA397394849AIPL1c.826G>C (p.Glu276Gln)
c.637G>C (p.Glu213Gln)
c.*698G>C (n.*698G>C)
c.760G>C (p.Glu254Gln)
c.251+8130G>C
c.790G>C (p.Glu264Gln)
c.*797G>C (n.*797G>C)
c.646G>C (p.Glu216Gln)
c.754G>C (p.Glu252Gln)
c.709G>C (p.Glu237Gln)
17g.6425789C>TCA397394847AIPL1c.826G>A (p.Glu276Lys)
c.637G>A (p.Glu213Lys)
c.*698G>A (n.*698G>A)
c.760G>A (p.Glu254Lys)
c.251+8130G>A
c.790G>A (p.Glu264Lys)
c.*797G>A (n.*797G>A)
c.646G>A (p.Glu216Lys)
c.754G>A (p.Glu252Lys)
c.709G>A (p.Glu237Lys)
17g.6425790T>ACA497687461AIPL1c.825A>T (p.Ala275=)
c.636A>T (p.Ala212=)
c.*697A>T (n.*697A>T)
c.759A>T (p.Ala253=)
c.251+8129A>T
c.789A>T (p.Ala263=)
c.*796A>T (n.*796A>T)
c.645A>T (p.Ala215=)
c.753A>T (p.Ala251=)
c.708A>T (p.Ala236=)
 dbSNP gnomAD v2
17g.6425790T>CCA497687459AIPL1c.825A>G (p.Ala275=)
c.636A>G (p.Ala212=)
c.*697A>G (n.*697A>G)
c.759A>G (p.Ala253=)
c.251+8129A>G
c.789A>G (p.Ala263=)
c.*796A>G (n.*796A>G)
c.645A>G (p.Ala215=)
c.753A>G (p.Ala251=)
c.708A>G (p.Ala236=)
17g.6425790T>GCA497687460AIPL1c.825A>C (p.Ala275=)
c.636A>C (p.Ala212=)
c.*697A>C (n.*697A>C)
c.759A>C (p.Ala253=)
c.251+8129A>C
c.789A>C (p.Ala263=)
c.*796A>C (n.*796A>C)
c.645A>C (p.Ala215=)
c.753A>C (p.Ala251=)
c.708A>C (p.Ala236=)
17g.6425790T=CA2245347075AIPL1c.825A= (p.Ala275=)
c.636A= (p.Ala212=)
c.*697A= (n.*697A=)
c.759A= (p.Ala253=)
c.251+8129A=
c.789A= (p.Ala263=)
c.*796A= (n.*796A=)
c.645A= (p.Ala215=)
c.753A= (p.Ala251=)
c.708A= (p.Ala236=)
17g.6425791G>ACA397394850AIPL1c.824C>T (p.Ala275Val)
c.635C>T (p.Ala212Val)
c.*696C>T (n.*696C>T)
c.758C>T (p.Ala253Val)
c.251+8128C>T
c.788C>T (p.Ala263Val)
c.*795C>T (n.*795C>T)
c.644C>T (p.Ala215Val)
c.752C>T (p.Ala251Val)
c.707C>T (p.Ala236Val)
17g.6425791G>CCA397394851AIPL1c.824C>G (p.Ala275Gly)
c.635C>G (p.Ala212Gly)
c.*696C>G (n.*696C>G)
c.758C>G (p.Ala253Gly)
c.251+8128C>G
c.788C>G (p.Ala263Gly)
c.*795C>G (n.*795C>G)
c.644C>G (p.Ala215Gly)
c.752C>G (p.Ala251Gly)
c.707C>G (p.Ala236Gly)
17g.6425791G>TCA397394852AIPL1c.824C>A (p.Ala275Glu)
c.635C>A (p.Ala212Glu)
c.*696C>A (n.*696C>A)
c.758C>A (p.Ala253Glu)
c.251+8128C>A
c.788C>A (p.Ala263Glu)
c.*795C>A (n.*795C>A)
c.644C>A (p.Ala215Glu)
c.752C>A (p.Ala251Glu)
c.707C>A (p.Ala236Glu)
 gnomAD v4
17g.6425792C>ACA397394853AIPL1c.823G>T (p.Ala275Ser)
c.634G>T (p.Ala212Ser)
c.*695G>T (n.*695G>T)
c.757G>T (p.Ala253Ser)
c.251+8127G>T
c.787G>T (p.Ala263Ser)
c.*794G>T (n.*794G>T)
c.643G>T (p.Ala215Ser)
c.751G>T (p.Ala251Ser)
c.706G>T (p.Ala236Ser)
 gnomAD v4
17g.6425792C=CA2245347077AIPL1c.823G= (p.Ala275=)
c.634G= (p.Ala212=)
c.*695G= (n.*695G=)
c.757G= (p.Ala253=)
c.251+8127G=
c.787G= (p.Ala263=)
c.*794G= (n.*794G=)
c.643G= (p.Ala215=)
c.751G= (p.Ala251=)
c.706G= (p.Ala236=)
17g.6425792C>GCA397394854AIPL1c.823G>C (p.Ala275Pro)
c.634G>C (p.Ala212Pro)
c.*695G>C (n.*695G>C)
c.757G>C (p.Ala253Pro)
c.251+8127G>C
c.787G>C (p.Ala263Pro)
c.*794G>C (n.*794G>C)
c.643G>C (p.Ala215Pro)
c.751G>C (p.Ala251Pro)
c.706G>C (p.Ala236Pro)
17g.6425792C>TCA287323964AIPL1c.823G>A (p.Ala275Thr)
c.634G>A (p.Ala212Thr)
c.*695G>A (n.*695G>A)
c.757G>A (p.Ala253Thr)
c.251+8127G>A
c.787G>A (p.Ala263Thr)
c.*794G>A (n.*794G>A)
c.643G>A (p.Ala215Thr)
c.751G>A (p.Ala251Thr)
c.706G>A (p.Ala236Thr)
 dbSNP gnomAD v4 COSMIC
17g.6425793G>ACA497687462AIPL1c.822C>T (p.His274=)
c.633C>T (p.His211=)
c.*694C>T (n.*694C>T)
c.756C>T (p.His252=)
c.251+8126C>T
c.786C>T (p.His262=)
c.*793C>T (n.*793C>T)
c.642C>T (p.His214=)
c.750C>T (p.His250=)
c.705C>T (p.His235=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6425793G>CCA8328372AIPL1c.822C>G (p.His274Gln)
c.633C>G (p.His211Gln)
c.*694C>G (n.*694C>G)
c.756C>G (p.His252Gln)
c.251+8126C>G
c.786C>G (p.His262Gln)
c.*793C>G (n.*793C>G)
c.642C>G (p.His214Gln)
c.750C>G (p.His250Gln)
c.705C>G (p.His235Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425793G=CA2245347079AIPL1c.822C= (p.His274=)
c.633C= (p.His211=)
c.*694C= (n.*694C=)
c.756C= (p.His252=)
c.251+8126C=
c.786C= (p.His262=)
c.*793C= (n.*793C=)
c.642C= (p.His214=)
c.750C= (p.His250=)
c.705C= (p.His235=)
17g.6425793G>TCA397394855AIPL1c.822C>A (p.His274Gln)
c.633C>A (p.His211Gln)
c.*694C>A (n.*694C>A)
c.756C>A (p.His252Gln)
c.251+8126C>A
c.786C>A (p.His262Gln)
c.*793C>A (n.*793C>A)
c.642C>A (p.His214Gln)
c.750C>A (p.His250Gln)
c.705C>A (p.His235Gln)
 gnomAD v4
17g.6425794T>ACA397394856AIPL1c.821A>T (p.His274Leu)
c.632A>T (p.His211Leu)
c.*693A>T (n.*693A>T)
c.755A>T (p.His252Leu)
c.251+8125A>T
c.785A>T (p.His262Leu)
c.*792A>T (n.*792A>T)
c.641A>T (p.His214Leu)
c.749A>T (p.His250Leu)
c.704A>T (p.His235Leu)
 gnomAD v4
17g.6425794T>CCA397394857AIPL1c.821A>G (p.His274Arg)
c.632A>G (p.His211Arg)
c.*693A>G (n.*693A>G)
c.755A>G (p.His252Arg)
c.251+8125A>G
c.785A>G (p.His262Arg)
c.*792A>G (n.*792A>G)
c.641A>G (p.His214Arg)
c.749A>G (p.His250Arg)
c.704A>G (p.His235Arg)
17g.6425794T>GCA397394858AIPL1c.821A>C (p.His274Pro)
c.632A>C (p.His211Pro)
c.*693A>C (n.*693A>C)
c.755A>C (p.His252Pro)
c.251+8125A>C
c.785A>C (p.His262Pro)
c.*792A>C (n.*792A>C)
c.641A>C (p.His214Pro)
c.749A>C (p.His250Pro)
c.704A>C (p.His235Pro)
 gnomAD v4
17g.6425795G>ACA397394859AIPL1c.820C>T (p.His274Tyr)
c.631C>T (p.His211Tyr)
c.*692C>T (n.*692C>T)
c.754C>T (p.His252Tyr)
c.251+8124C>T
c.784C>T (p.His262Tyr)
c.*791C>T (n.*791C>T)
c.640C>T (p.His214Tyr)
c.748C>T (p.His250Tyr)
c.703C>T (p.His235Tyr)
 COSMIC
17g.6425795G>CCA397394860AIPL1c.820C>G (p.His274Asp)
c.631C>G (p.His211Asp)
c.*692C>G (n.*692C>G)
c.754C>G (p.His252Asp)
c.251+8124C>G
c.784C>G (p.His262Asp)
c.*791C>G (n.*791C>G)
c.640C>G (p.His214Asp)
c.748C>G (p.His250Asp)
c.703C>G (p.His235Asp)
17g.6425795G>TCA397394861AIPL1c.820C>A (p.His274Asn)
c.631C>A (p.His211Asn)
c.*692C>A (n.*692C>A)
c.754C>A (p.His252Asn)
c.251+8124C>A
c.784C>A (p.His262Asn)
c.*791C>A (n.*791C>A)
c.640C>A (p.His214Asn)
c.748C>A (p.His250Asn)
c.703C>A (p.His235Asn)
 gnomAD v4
17g.6425796A=CA2245347081AIPL1c.819T= (p.Ala273=)
c.630T= (p.Ala210=)
c.*691T= (n.*691T=)
c.753T= (p.Ala251=)
c.251+8123T=
c.783T= (p.Ala261=)
c.*790T= (n.*790T=)
c.639T= (p.Ala213=)
c.747T= (p.Ala249=)
c.702T= (p.Ala234=)
17g.6425796A>CCA497687465AIPL1c.819T>G (p.Ala273=)
c.630T>G (p.Ala210=)
c.*691T>G (n.*691T>G)
c.753T>G (p.Ala251=)
c.251+8123T>G
c.783T>G (p.Ala261=)
c.*790T>G (n.*790T>G)
c.639T>G (p.Ala213=)
c.747T>G (p.Ala249=)
c.702T>G (p.Ala234=)
17g.6425796A>GCA8328373AIPL1c.819T>C (p.Ala273=)
c.630T>C (p.Ala210=)
c.*691T>C (n.*691T>C)
c.753T>C (p.Ala251=)
c.251+8123T>C
c.783T>C (p.Ala261=)
c.*790T>C (n.*790T>C)
c.639T>C (p.Ala213=)
c.747T>C (p.Ala249=)
c.702T>C (p.Ala234=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425796A>TCA497687464AIPL1c.819T>A (p.Ala273=)
c.630T>A (p.Ala210=)
c.*691T>A (n.*691T>A)
c.753T>A (p.Ala251=)
c.251+8123T>A
c.783T>A (p.Ala261=)
c.*790T>A (n.*790T>A)
c.639T>A (p.Ala213=)
c.747T>A (p.Ala249=)
c.702T>A (p.Ala234=)
17g.6425797G>ACA397394862AIPL1c.818C>T (p.Ala273Val)
c.629C>T (p.Ala210Val)
c.*690C>T (n.*690C>T)
c.752C>T (p.Ala251Val)
c.251+8122C>T
c.782C>T (p.Ala261Val)
c.*789C>T (n.*789C>T)
c.638C>T (p.Ala213Val)
c.746C>T (p.Ala249Val)
c.701C>T (p.Ala234Val)
 gnomAD v4
17g.6425797G>CCA397394863AIPL1c.818C>G (p.Ala273Gly)
c.629C>G (p.Ala210Gly)
c.*690C>G (n.*690C>G)
c.752C>G (p.Ala251Gly)
c.251+8122C>G
c.782C>G (p.Ala261Gly)
c.*789C>G (n.*789C>G)
c.638C>G (p.Ala213Gly)
c.746C>G (p.Ala249Gly)
c.701C>G (p.Ala234Gly)
17g.6425797G>TCA397394864AIPL1c.818C>A (p.Ala273Asp)
c.629C>A (p.Ala210Asp)
c.*690C>A (n.*690C>A)
c.752C>A (p.Ala251Asp)
c.251+8122C>A
c.782C>A (p.Ala261Asp)
c.*789C>A (n.*789C>A)
c.638C>A (p.Ala213Asp)
c.746C>A (p.Ala249Asp)
c.701C>A (p.Ala234Asp)
 gnomAD v4
17g.6425798C>ACA397394865AIPL1c.817G>T (p.Ala273Ser)
c.628G>T (p.Ala210Ser)
c.*689G>T (n.*689G>T)
c.751G>T (p.Ala251Ser)
c.251+8121G>T
c.781G>T (p.Ala261Ser)
c.*788G>T (n.*788G>T)
c.637G>T (p.Ala213Ser)
c.745G>T (p.Ala249Ser)
c.700G>T (p.Ala234Ser)
 ClinVar dbSNP
17g.6425798C=CA2245347083AIPL1c.817G= (p.Ala273=)
c.628G= (p.Ala210=)
c.*689G= (n.*689G=)
c.751G= (p.Ala251=)
c.251+8121G=
c.781G= (p.Ala261=)
c.*788G= (n.*788G=)
c.637G= (p.Ala213=)
c.745G= (p.Ala249=)
c.700G= (p.Ala234=)
17g.6425798C>GCA397394866AIPL1c.817G>C (p.Ala273Pro)
c.628G>C (p.Ala210Pro)
c.*689G>C (n.*689G>C)
c.751G>C (p.Ala251Pro)
c.251+8121G>C
c.781G>C (p.Ala261Pro)
c.*788G>C (n.*788G>C)
c.637G>C (p.Ala213Pro)
c.745G>C (p.Ala249Pro)
c.700G>C (p.Ala234Pro)
17g.6425798C>TCA397394867AIPL1c.817G>A (p.Ala273Thr)
c.628G>A (p.Ala210Thr)
c.*689G>A (n.*689G>A)
c.751G>A (p.Ala251Thr)
c.251+8121G>A
c.781G>A (p.Ala261Thr)
c.*788G>A (n.*788G>A)
c.637G>A (p.Ala213Thr)
c.745G>A (p.Ala249Thr)
c.700G>A (p.Ala234Thr)
 gnomAD v4
17g.6425799C>ACA497687467AIPL1c.816G>T (p.Arg272=)
c.627G>T (p.Arg209=)
c.*688G>T (n.*688G>T)
c.750G>T (p.Arg250=)
c.251+8120G>T
c.780G>T (p.Arg260=)
c.*787G>T (n.*787G>T)
c.636G>T (p.Arg212=)
c.744G>T (p.Arg248=)
c.699G>T (p.Arg233=)
17g.6425799C=CA2245347085AIPL1c.816G= (p.Arg272=)
c.627G= (p.Arg209=)
c.*688G= (n.*688G=)
c.750G= (p.Arg250=)
c.251+8120G=
c.780G= (p.Arg260=)
c.*787G= (n.*787G=)
c.636G= (p.Arg212=)
c.744G= (p.Arg248=)
c.699G= (p.Arg233=)
17g.6425799C>GCA497687469AIPL1c.816G>C (p.Arg272=)
c.627G>C (p.Arg209=)
c.*688G>C (n.*688G>C)
c.750G>C (p.Arg250=)
c.251+8120G>C
c.780G>C (p.Arg260=)
c.*787G>C (n.*787G>C)
c.636G>C (p.Arg212=)
c.744G>C (p.Arg248=)
c.699G>C (p.Arg233=)
17g.6425799C>TCA497687471AIPL1c.816G>A (p.Arg272=)
c.627G>A (p.Arg209=)
c.*688G>A (n.*688G>A)
c.750G>A (p.Arg250=)
c.251+8120G>A
c.780G>A (p.Arg260=)
c.*787G>A (n.*787G>A)
c.636G>A (p.Arg212=)
c.744G>A (p.Arg248=)
c.699G>A (p.Arg233=)
 dbSNP gnomAD v2 gnomAD v4
17g.6425799_6425800insACA2808334552AIPL1c.815_816insT (p.Ala273GlyfsTer8)
c.626_627insT (p.Ala210GlyfsTer8)
c.*687_*688insT (n.*687_*688insT)
c.749_750insT (p.Ala251GlyfsTer8)
c.251+8119_251+8120insT
c.779_780insT (p.Ala261GlyfsTer8)
c.*786_*787insT (n.*786_*787insT)
c.635_636insT (p.Ala213GlyfsTer8)
c.743_744insT (p.Ala249GlyfsTer8)
c.698_699insT (p.Ala234GlyfsTer8)
17g.6425800C>ACA397394868AIPL1c.815G>T (p.Arg272Leu)
c.626G>T (p.Arg209Leu)
c.*687G>T (n.*687G>T)
c.749G>T (p.Arg250Leu)
c.251+8119G>T
c.779G>T (p.Arg260Leu)
c.*786G>T (n.*786G>T)
c.635G>T (p.Arg212Leu)
c.743G>T (p.Arg248Leu)
c.698G>T (p.Arg233Leu)
 COSMIC
17g.6425800C=CA2245347088AIPL1c.815G= (p.Arg272=)
c.626G= (p.Arg209=)
c.*687G= (n.*687G=)
c.749G= (p.Arg250=)
c.251+8119G=
c.779G= (p.Arg260=)
c.*786G= (n.*786G=)
c.635G= (p.Arg212=)
c.743G= (p.Arg248=)
c.698G= (p.Arg233=)
17g.6425800C>GCA397394869AIPL1c.815G>C (p.Arg272Pro)
c.626G>C (p.Arg209Pro)
c.*687G>C (n.*687G>C)
c.749G>C (p.Arg250Pro)
c.251+8119G>C
c.779G>C (p.Arg260Pro)
c.*786G>C (n.*786G>C)
c.635G>C (p.Arg212Pro)
c.743G>C (p.Arg248Pro)
c.698G>C (p.Arg233Pro)
 ClinVar dbSNP COSMIC
17g.6425800C>TCA397394870AIPL1c.815G>A (p.Arg272Gln)
c.626G>A (p.Arg209Gln)
c.*687G>A (n.*687G>A)
c.749G>A (p.Arg250Gln)
c.251+8119G>A
c.779G>A (p.Arg260Gln)
c.*786G>A (n.*786G>A)
c.635G>A (p.Arg212Gln)
c.743G>A (p.Arg248Gln)
c.698G>A (p.Arg233Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.6425801G>ACA8328374AIPL1c.814C>T (p.Arg272Trp)
c.625C>T (p.Arg209Trp)
c.*686C>T (n.*686C>T)
c.748C>T (p.Arg250Trp)
c.251+8118C>T
c.778C>T (p.Arg260Trp)
c.*785C>T (n.*785C>T)
c.634C>T (p.Arg212Trp)
c.742C>T (p.Arg248Trp)
c.697C>T (p.Arg233Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425801G>CCA397394871AIPL1c.814C>G (p.Arg272Gly)
c.625C>G (p.Arg209Gly)
c.*686C>G (n.*686C>G)
c.748C>G (p.Arg250Gly)
c.251+8118C>G
c.778C>G (p.Arg260Gly)
c.*785C>G (n.*785C>G)
c.634C>G (p.Arg212Gly)
c.742C>G (p.Arg248Gly)
c.697C>G (p.Arg233Gly)
 dbSNP gnomAD v2
17g.6425801G=CA2245347090AIPL1c.814C= (p.Arg272=)
c.625C= (p.Arg209=)
c.*686C= (n.*686C=)
c.748C= (p.Arg250=)
c.251+8118C=
c.778C= (p.Arg260=)
c.*785C= (n.*785C=)
c.634C= (p.Arg212=)
c.742C= (p.Arg248=)
c.697C= (p.Arg233=)
17g.6425801G>TCA497687472AIPL1c.814C>A (p.Arg272=)
c.625C>A (p.Arg209=)
c.*686C>A (n.*686C>A)
c.748C>A (p.Arg250=)
c.251+8118C>A
c.778C>A (p.Arg260=)
c.*785C>A (n.*785C>A)
c.634C>A (p.Arg212=)
c.742C>A (p.Arg248=)
c.697C>A (p.Arg233=)
 gnomAD v4 COSMIC
17g.6425803delCA2573154471AIPL1c.814del (p.Arg272GlyfsTer?)
c.625del (p.Arg209GlyfsTer?)
c.*686del (n.*686del)
c.748del (p.Arg250GlyfsTer?)
c.251+8118del
c.778del (p.Arg260GlyfsTer?)
c.*785del (n.*785del)
c.634del (p.Arg212GlyfsTer?)
c.742del (p.Arg248GlyfsTer?)
c.697del (p.Arg233GlyfsTer?)
 ClinVar dbSNP
17g.6425802G>ACA8328375AIPL1c.813C>T (p.Ala271=)
c.624C>T (p.Ala208=)
c.*685C>T (n.*685C>T)
c.747C>T (p.Ala249=)
c.251+8117C>T
c.777C>T (p.Ala259=)
c.*784C>T (n.*784C>T)
c.633C>T (p.Ala211=)
c.741C>T (p.Ala247=)
c.696C>T (p.Ala232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425802G>CCA497687473AIPL1c.813C>G (p.Ala271=)
c.624C>G (p.Ala208=)
c.*685C>G (n.*685C>G)
c.747C>G (p.Ala249=)
c.251+8117C>G
c.777C>G (p.Ala259=)
c.*784C>G (n.*784C>G)
c.633C>G (p.Ala211=)
c.741C>G (p.Ala247=)
c.696C>G (p.Ala232=)
17g.6425802G=CA2245347092AIPL1c.813C= (p.Ala271=)
c.624C= (p.Ala208=)
c.*685C= (n.*685C=)
c.747C= (p.Ala249=)
c.251+8117C=
c.777C= (p.Ala259=)
c.*784C= (n.*784C=)
c.633C= (p.Ala211=)
c.741C= (p.Ala247=)
c.696C= (p.Ala232=)
17g.6425802G>TCA497687474AIPL1c.813C>A (p.Ala271=)
c.624C>A (p.Ala208=)
c.*685C>A (n.*685C>A)
c.747C>A (p.Ala249=)
c.251+8117C>A
c.777C>A (p.Ala259=)
c.*784C>A (n.*784C>A)
c.633C>A (p.Ala211=)
c.741C>A (p.Ala247=)
c.696C>A (p.Ala232=)
 gnomAD v4
17g.6425803G>ACA397394873AIPL1c.812C>T (p.Ala271Val)
c.623C>T (p.Ala208Val)
c.*684C>T (n.*684C>T)
c.746C>T (p.Ala249Val)
c.251+8116C>T
c.776C>T (p.Ala259Val)
c.*783C>T (n.*783C>T)
c.632C>T (p.Ala211Val)
c.740C>T (p.Ala247Val)
c.695C>T (p.Ala232Val)
 gnomAD v4
17g.6425803G>CCA8328376AIPL1c.812C>G (p.Ala271Gly)
c.623C>G (p.Ala208Gly)
c.*684C>G (n.*684C>G)
c.746C>G (p.Ala249Gly)
c.251+8116C>G
c.776C>G (p.Ala259Gly)
c.*783C>G (n.*783C>G)
c.632C>G (p.Ala211Gly)
c.740C>G (p.Ala247Gly)
c.695C>G (p.Ala232Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425803G=CA2245347094AIPL1c.812C= (p.Ala271=)
c.623C= (p.Ala208=)
c.*684C= (n.*684C=)
c.746C= (p.Ala249=)
c.251+8116C=
c.776C= (p.Ala259=)
c.*783C= (n.*783C=)
c.632C= (p.Ala211=)
c.740C= (p.Ala247=)
c.695C= (p.Ala232=)
17g.6425803G>TCA397394872AIPL1c.812C>A (p.Ala271Asp)
c.623C>A (p.Ala208Asp)
c.*684C>A (n.*684C>A)
c.746C>A (p.Ala249Asp)
c.251+8116C>A
c.776C>A (p.Ala259Asp)
c.*783C>A (n.*783C>A)
c.632C>A (p.Ala211Asp)
c.740C>A (p.Ala247Asp)
c.695C>A (p.Ala232Asp)
 gnomAD v4
17g.6425804C>ACA397394874AIPL1c.811G>T (p.Ala271Ser)
c.622G>T (p.Ala208Ser)
c.*683G>T (n.*683G>T)
c.745G>T (p.Ala249Ser)
c.251+8115G>T
c.775G>T (p.Ala259Ser)
c.*782G>T (n.*782G>T)
c.631G>T (p.Ala211Ser)
c.739G>T (p.Ala247Ser)
c.694G>T (p.Ala232Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.6425804C=CA2245347095AIPL1c.811G= (p.Ala271=)
c.622G= (p.Ala208=)
c.*683G= (n.*683G=)
c.745G= (p.Ala249=)
c.251+8115G=
c.775G= (p.Ala259=)
c.*782G= (n.*782G=)
c.631G= (p.Ala211=)
c.739G= (p.Ala247=)
c.694G= (p.Ala232=)
17g.6425804C>GCA397394876AIPL1c.811G>C (p.Ala271Pro)
c.622G>C (p.Ala208Pro)
c.*683G>C (n.*683G>C)
c.745G>C (p.Ala249Pro)
c.251+8115G>C
c.775G>C (p.Ala259Pro)
c.*782G>C (n.*782G>C)
c.631G>C (p.Ala211Pro)
c.739G>C (p.Ala247Pro)
c.694G>C (p.Ala232Pro)
17g.6425804C>TCA397394875AIPL1c.811G>A (p.Ala271Thr)
c.622G>A (p.Ala208Thr)
c.*683G>A (n.*683G>A)
c.745G>A (p.Ala249Thr)
c.251+8115G>A
c.775G>A (p.Ala259Thr)
c.*782G>A (n.*782G>A)
c.631G>A (p.Ala211Thr)
c.739G>A (p.Ala247Thr)
c.694G>A (p.Ala232Thr)
 gnomAD v4
17g.6425805A=CA2245347097AIPL1c.810T= (p.Arg270=)
c.621T= (p.Arg207=)
c.*682T= (n.*682T=)
c.744T= (p.Arg248=)
c.251+8114T=
c.774T= (p.Arg258=)
c.*781T= (n.*781T=)
c.630T= (p.Arg210=)
c.738T= (p.Arg246=)
c.693T= (p.Arg231=)
17g.6425805A>CCA497687475AIPL1c.810T>G (p.Arg270=)
c.621T>G (p.Arg207=)
c.*682T>G (n.*682T>G)
c.744T>G (p.Arg248=)
c.251+8114T>G
c.774T>G (p.Arg258=)
c.*781T>G (n.*781T>G)
c.630T>G (p.Arg210=)
c.738T>G (p.Arg246=)
c.693T>G (p.Arg231=)
17g.6425805A>GCA8328377AIPL1c.810T>C (p.Arg270=)
c.621T>C (p.Arg207=)
c.*682T>C (n.*682T>C)
c.744T>C (p.Arg248=)
c.251+8114T>C
c.774T>C (p.Arg258=)
c.*781T>C (n.*781T>C)
c.630T>C (p.Arg210=)
c.738T>C (p.Arg246=)
c.693T>C (p.Arg231=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425805A>TCA497687476AIPL1c.810T>A (p.Arg270=)
c.621T>A (p.Arg207=)
c.*682T>A (n.*682T>A)
c.744T>A (p.Arg248=)
c.251+8114T>A
c.774T>A (p.Arg258=)
c.*781T>A (n.*781T>A)
c.630T>A (p.Arg210=)
c.738T>A (p.Arg246=)
c.693T>A (p.Arg231=)
 gnomAD v4
17g.6425806C>ACA397394877AIPL1c.809G>T (p.Arg270Leu)
c.620G>T (p.Arg207Leu)
c.*681G>T (n.*681G>T)
c.743G>T (p.Arg248Leu)
c.251+8113G>T
c.773G>T (p.Arg258Leu)
c.*780G>T (n.*780G>T)
c.629G>T (p.Arg210Leu)
c.737G>T (p.Arg246Leu)
c.692G>T (p.Arg231Leu)
 gnomAD v4
17g.6425806C>GCA397394878AIPL1c.809G>C (p.Arg270Pro)
c.620G>C (p.Arg207Pro)
c.*681G>C (n.*681G>C)
c.743G>C (p.Arg248Pro)
c.251+8113G>C
c.773G>C (p.Arg258Pro)
c.*780G>C (n.*780G>C)
c.629G>C (p.Arg210Pro)
c.737G>C (p.Arg246Pro)
c.692G>C (p.Arg231Pro)
17g.6425806C>TCA397394879AIPL1c.809G>A (p.Arg270His)
c.620G>A (p.Arg207His)
c.*681G>A (n.*681G>A)
c.743G>A (p.Arg248His)
c.251+8113G>A
c.773G>A (p.Arg258His)
c.*780G>A (n.*780G>A)
c.629G>A (p.Arg210His)
c.737G>A (p.Arg246His)
c.692G>A (p.Arg231His)
 ClinVar gnomAD v4 COSMIC
17g.6425807G>ACA397394880AIPL1c.808C>T (p.Arg270Cys)
c.619C>T (p.Arg207Cys)
c.*680C>T (n.*680C>T)
c.742C>T (p.Arg248Cys)
c.251+8112C>T
c.772C>T (p.Arg258Cys)
c.*779C>T (n.*779C>T)
c.628C>T (p.Arg210Cys)
c.736C>T (p.Arg246Cys)
c.691C>T (p.Arg231Cys)
 dbSNP gnomAD v4 COSMIC
17g.6425807G>CCA397394881AIPL1c.808C>G (p.Arg270Gly)
c.619C>G (p.Arg207Gly)
c.*680C>G (n.*680C>G)
c.742C>G (p.Arg248Gly)
c.251+8112C>G
c.772C>G (p.Arg258Gly)
c.*779C>G (n.*779C>G)
c.628C>G (p.Arg210Gly)
c.736C>G (p.Arg246Gly)
c.691C>G (p.Arg231Gly)
17g.6425807G=CA2245347099AIPL1c.808C= (p.Arg270=)
c.619C= (p.Arg207=)
c.*680C= (n.*680C=)
c.742C= (p.Arg248=)
c.251+8112C=
c.772C= (p.Arg258=)
c.*779C= (n.*779C=)
c.628C= (p.Arg210=)
c.736C= (p.Arg246=)
c.691C= (p.Arg231=)
17g.6425807G>TCA397394882AIPL1c.808C>A (p.Arg270Ser)
c.619C>A (p.Arg207Ser)
c.*680C>A (n.*680C>A)
c.742C>A (p.Arg248Ser)
c.251+8112C>A
c.772C>A (p.Arg258Ser)
c.*779C>A (n.*779C>A)
c.628C>A (p.Arg210Ser)
c.736C>A (p.Arg246Ser)
c.691C>A (p.Arg231Ser)
 gnomAD v4
17g.6425808C>ACA497687477AIPL1c.807G>T (p.Val269=)
c.618G>T (p.Val206=)
c.*679G>T (n.*679G>T)
c.741G>T (p.Val247=)
c.251+8111G>T
c.771G>T (p.Val257=)
c.*778G>T (n.*778G>T)
c.627G>T (p.Val209=)
c.735G>T (p.Val245=)
c.690G>T (p.Val230=)
17g.6425808C=CA2245347101AIPL1c.807G= (p.Val269=)
c.618G= (p.Val206=)
c.*679G= (n.*679G=)
c.741G= (p.Val247=)
c.251+8111G=
c.771G= (p.Val257=)
c.*778G= (n.*778G=)
c.627G= (p.Val209=)
c.735G= (p.Val245=)
c.690G= (p.Val230=)
17g.6425808C>GCA497687478AIPL1c.807G>C (p.Val269=)
c.618G>C (p.Val206=)
c.*679G>C (n.*679G>C)
c.741G>C (p.Val247=)
c.251+8111G>C
c.771G>C (p.Val257=)
c.*778G>C (n.*778G>C)
c.627G>C (p.Val209=)
c.735G>C (p.Val245=)
c.690G>C (p.Val230=)
17g.6425808C>TCA497687479AIPL1c.807G>A (p.Val269=)
c.618G>A (p.Val206=)
c.*679G>A (n.*679G>A)
c.741G>A (p.Val247=)
c.251+8111G>A
c.771G>A (p.Val257=)
c.*778G>A (n.*778G>A)
c.627G>A (p.Val209=)
c.735G>A (p.Val245=)
c.690G>A (p.Val230=)
 ClinVar dbSNP gnomAD v4
17g.6425809A>CCA397394883AIPL1c.806T>G (p.Val269Gly)
c.617T>G (p.Val206Gly)
c.*678T>G (n.*678T>G)
c.740T>G (p.Val247Gly)
c.251+8110T>G
c.770T>G (p.Val257Gly)
c.*777T>G (n.*777T>G)
c.626T>G (p.Val209Gly)
c.734T>G (p.Val245Gly)
c.689T>G (p.Val230Gly)
17g.6425809A>GCA397394884AIPL1c.806T>C (p.Val269Ala)
c.617T>C (p.Val206Ala)
c.*678T>C (n.*678T>C)
c.740T>C (p.Val247Ala)
c.251+8110T>C
c.770T>C (p.Val257Ala)
c.*777T>C (n.*777T>C)
c.626T>C (p.Val209Ala)
c.734T>C (p.Val245Ala)
c.689T>C (p.Val230Ala)
17g.6425809A>TCA397394885AIPL1c.806T>A (p.Val269Glu)
c.617T>A (p.Val206Glu)
c.*678T>A (n.*678T>A)
c.740T>A (p.Val247Glu)
c.251+8110T>A
c.770T>A (p.Val257Glu)
c.*777T>A (n.*777T>A)
c.626T>A (p.Val209Glu)
c.734T>A (p.Val245Glu)
c.689T>A (p.Val230Glu)
17g.6425810C>ACA397394886AIPL1c.805G>T (p.Val269Leu)
c.616G>T (p.Val206Leu)
c.*677G>T (n.*677G>T)
c.739G>T (p.Val247Leu)
c.251+8109G>T
c.769G>T (p.Val257Leu)
c.*776G>T (n.*776G>T)
c.625G>T (p.Val209Leu)
c.733G>T (p.Val245Leu)
c.688G>T (p.Val230Leu)
 ClinVar
17g.6425810C=CA2245347102AIPL1c.805G= (p.Val269=)
c.616G= (p.Val206=)
c.*677G= (n.*677G=)
c.739G= (p.Val247=)
c.251+8109G=
c.769G= (p.Val257=)
c.*776G= (n.*776G=)
c.625G= (p.Val209=)
c.733G= (p.Val245=)
c.688G= (p.Val230=)
17g.6425810C>GCA397394887AIPL1c.805G>C (p.Val269Leu)
c.616G>C (p.Val206Leu)
c.*677G>C (n.*677G>C)
c.739G>C (p.Val247Leu)
c.251+8109G>C
c.769G>C (p.Val257Leu)
c.*776G>C (n.*776G>C)
c.625G>C (p.Val209Leu)
c.733G>C (p.Val245Leu)
c.688G>C (p.Val230Leu)
17g.6425810C>TCA8328378AIPL1c.805G>A (p.Val269Met)
c.616G>A (p.Val206Met)
c.*677G>A (n.*677G>A)
c.739G>A (p.Val247Met)
c.251+8109G>A
c.769G>A (p.Val257Met)
c.*776G>A (n.*776G>A)
c.625G>A (p.Val209Met)
c.733G>A (p.Val245Met)
c.688G>A (p.Val230Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.6425811G>ACA497687480AIPL1c.804C>T (p.Tyr268=)
c.615C>T (p.Tyr205=)
c.*676C>T (n.*676C>T)
c.738C>T (p.Tyr246=)
c.251+8108C>T
c.768C>T (p.Tyr256=)
c.*775C>T (n.*775C>T)
c.624C>T (p.Tyr208=)
c.732C>T (p.Tyr244=)
c.687C>T (p.Tyr229=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.6425811G>CCA397394888AIPL1c.804C>G (p.Tyr268Ter)
c.615C>G (p.Tyr205Ter)
c.*676C>G (n.*676C>G)
c.738C>G (p.Tyr246Ter)
c.251+8108C>G
c.768C>G (p.Tyr256Ter)
c.*775C>G (n.*775C>G)
c.624C>G (p.Tyr208Ter)
c.732C>G (p.Tyr244Ter)
c.687C>G (p.Tyr229Ter)
17g.6425811G=CA2245347104AIPL1c.804C= (p.Tyr268=)
c.615C= (p.Tyr205=)
c.*676C= (n.*676C=)
c.738C= (p.Tyr246=)
c.251+8108C=
c.768C= (p.Tyr256=)
c.*775C= (n.*775C=)
c.624C= (p.Tyr208=)
c.732C= (p.Tyr244=)
c.687C= (p.Tyr229=)
17g.6425811G>TCA397394889AIPL1c.804C>A (p.Tyr268Ter)
c.615C>A (p.Tyr205Ter)
c.*676C>A (n.*676C>A)
c.738C>A (p.Tyr246Ter)
c.251+8108C>A
c.768C>A (p.Tyr256Ter)
c.*775C>A (n.*775C>A)
c.624C>A (p.Tyr208Ter)
c.732C>A (p.Tyr244Ter)
c.687C>A (p.Tyr229Ter)
 gnomAD v4
17g.6425812T>ACA397394890AIPL1c.803A>T (p.Tyr268Phe)
c.614A>T (p.Tyr205Phe)
c.*675A>T (n.*675A>T)
c.737A>T (p.Tyr246Phe)
c.251+8107A>T
c.767A>T (p.Tyr256Phe)
c.*774A>T (n.*774A>T)
c.623A>T (p.Tyr208Phe)
c.731A>T (p.Tyr244Phe)
c.686A>T (p.Tyr229Phe)
17g.6425812T>CCA397394891AIPL1c.803A>G (p.Tyr268Cys)
c.614A>G (p.Tyr205Cys)
c.*675A>G (n.*675A>G)
c.737A>G (p.Tyr246Cys)
c.251+8107A>G
c.767A>G (p.Tyr256Cys)
c.*774A>G (n.*774A>G)
c.623A>G (p.Tyr208Cys)
c.731A>G (p.Tyr244Cys)
c.686A>G (p.Tyr229Cys)
17g.6425812T>GCA397394892AIPL1c.803A>C (p.Tyr268Ser)
c.614A>C (p.Tyr205Ser)
c.*675A>C (n.*675A>C)
c.737A>C (p.Tyr246Ser)
c.251+8107A>C
c.767A>C (p.Tyr256Ser)
c.*774A>C (n.*774A>C)
c.623A>C (p.Tyr208Ser)
c.731A>C (p.Tyr244Ser)
c.686A>C (p.Tyr229Ser)
17g.6425813A>CCA397394893AIPL1c.802T>G (p.Tyr268Asp)
c.613T>G (p.Tyr205Asp)
c.*674T>G (n.*674T>G)
c.736T>G (p.Tyr246Asp)
c.251+8106T>G
c.766T>G (p.Tyr256Asp)
c.*773T>G (n.*773T>G)
c.622T>G (p.Tyr208Asp)
c.730T>G (p.Tyr244Asp)
c.685T>G (p.Tyr229Asp)
17g.6425813A>GCA397394894AIPL1c.802T>C (p.Tyr268His)
c.613T>C (p.Tyr205His)
c.*674T>C (n.*674T>C)
c.736T>C (p.Tyr246His)
c.251+8106T>C
c.766T>C (p.Tyr256His)
c.*773T>C (n.*773T>C)
c.622T>C (p.Tyr208His)
c.730T>C (p.Tyr244His)
c.685T>C (p.Tyr229His)
17g.6425813A>TCA397394895AIPL1c.802T>A (p.Tyr268Asn)
c.613T>A (p.Tyr205Asn)
c.*674T>A (n.*674T>A)
c.736T>A (p.Tyr246Asn)
c.251+8106T>A
c.766T>A (p.Tyr256Asn)
c.*773T>A (n.*773T>A)
c.622T>A (p.Tyr208Asn)
c.730T>A (p.Tyr244Asn)
c.685T>A (p.Tyr229Asn)
17g.6425814G>ACA497687481AIPL1c.801C>T (p.Tyr267=)
c.612C>T (p.Tyr204=)
c.*673C>T (n.*673C>T)
c.735C>T (p.Tyr245=)
c.251+8105C>T
c.765C>T (p.Tyr255=)
c.*772C>T (n.*772C>T)
c.621C>T (p.Tyr207=)
c.729C>T (p.Tyr243=)
c.684C>T (p.Tyr228=)
17g.6425814G>CCA397394896AIPL1c.801C>G (p.Tyr267Ter)
c.612C>G (p.Tyr204Ter)
c.*673C>G (n.*673C>G)
c.735C>G (p.Tyr245Ter)
c.251+8105C>G
c.765C>G (p.Tyr255Ter)
c.*772C>G (n.*772C>G)
c.621C>G (p.Tyr207Ter)
c.729C>G (p.Tyr243Ter)
c.684C>G (p.Tyr228Ter)
17g.6425814G>TCA397394897AIPL1c.801C>A (p.Tyr267Ter)
c.612C>A (p.Tyr204Ter)
c.*673C>A (n.*673C>A)
c.735C>A (p.Tyr245Ter)
c.251+8105C>A
c.765C>A (p.Tyr255Ter)
c.*772C>A (n.*772C>A)
c.621C>A (p.Tyr207Ter)
c.729C>A (p.Tyr243Ter)
c.684C>A (p.Tyr228Ter)
17g.6425815T>ACA397394898AIPL1c.800A>T (p.Tyr267Phe)
c.611A>T (p.Tyr204Phe)
c.*672A>T (n.*672A>T)
c.734A>T (p.Tyr245Phe)
c.251+8104A>T
c.764A>T (p.Tyr255Phe)
c.*771A>T (n.*771A>T)
c.620A>T (p.Tyr207Phe)
c.728A>T (p.Tyr243Phe)
c.683A>T (p.Tyr228Phe)
17g.6425815T>CCA397394899AIPL1c.800A>G (p.Tyr267Cys)
c.611A>G (p.Tyr204Cys)
c.*672A>G (n.*672A>G)
c.734A>G (p.Tyr245Cys)
c.251+8104A>G
c.764A>G (p.Tyr255Cys)
c.*771A>G (n.*771A>G)
c.620A>G (p.Tyr207Cys)
c.728A>G (p.Tyr243Cys)
c.683A>G (p.Tyr228Cys)
 gnomAD v4
17g.6425815T>GCA397394900AIPL1c.800A>C (p.Tyr267Ser)
c.611A>C (p.Tyr204Ser)
c.*672A>C (n.*672A>C)
c.734A>C (p.Tyr245Ser)
c.251+8104A>C
c.764A>C (p.Tyr255Ser)
c.*771A>C (n.*771A>C)
c.620A>C (p.Tyr207Ser)
c.728A>C (p.Tyr243Ser)
c.683A>C (p.Tyr228Ser)
 gnomAD v4 COSMIC
17g.6425816A>CCA397394903AIPL1c.799T>G (p.Tyr267Asp)
c.610T>G (p.Tyr204Asp)
c.*671T>G (n.*671T>G)
c.733T>G (p.Tyr245Asp)
c.251+8103T>G
c.763T>G (p.Tyr255Asp)
c.*770T>G (n.*770T>G)
c.619T>G (p.Tyr207Asp)
c.727T>G (p.Tyr243Asp)
c.682T>G (p.Tyr228Asp)
17g.6425816A>GCA397394902AIPL1c.799T>C (p.Tyr267His)
c.610T>C (p.Tyr204His)
c.*671T>C (n.*671T>C)
c.733T>C (p.Tyr245His)
c.251+8103T>C
c.763T>C (p.Tyr255His)
c.*770T>C (n.*770T>C)
c.619T>C (p.Tyr207His)
c.727T>C (p.Tyr243His)
c.682T>C (p.Tyr228His)
17g.6425816A>TCA397394901AIPL1c.799T>A (p.Tyr267Asn)
c.610T>A (p.Tyr204Asn)
c.*671T>A (n.*671T>A)
c.733T>A (p.Tyr245Asn)
c.251+8103T>A
c.763T>A (p.Tyr255Asn)
c.*770T>A (n.*770T>A)
c.619T>A (p.Tyr207Asn)
c.727T>A (p.Tyr243Asn)
c.682T>A (p.Tyr228Asn)
 gnomAD v4
17g.6425817G>ACA497687482AIPL1c.798C>T (p.Ala266=)
c.609C>T (p.Ala203=)
c.*670C>T (n.*670C>T)
c.732C>T (p.Ala244=)
c.251+8102C>T
c.762C>T (p.Ala254=)
c.*769C>T (n.*769C>T)
c.618C>T (p.Ala206=)
c.726C>T (p.Ala242=)
c.681C>T (p.Ala227=)
 COSMIC
17g.6425817G>CCA497687484AIPL1c.798C>G (p.Ala266=)
c.609C>G (p.Ala203=)
c.*670C>G (n.*670C>G)
c.732C>G (p.Ala244=)
c.251+8102C>G
c.762C>G (p.Ala254=)
c.*769C>G (n.*769C>G)
c.618C>G (p.Ala206=)
c.726C>G (p.Ala242=)
c.681C>G (p.Ala227=)
17g.6425817G>TCA497687483AIPL1c.798C>A (p.Ala266=)
c.609C>A (p.Ala203=)
c.*670C>A (n.*670C>A)
c.732C>A (p.Ala244=)
c.251+8102C>A
c.762C>A (p.Ala254=)
c.*769C>A (n.*769C>A)
c.618C>A (p.Ala206=)
c.726C>A (p.Ala242=)
c.681C>A (p.Ala227=)
 gnomAD v4
17g.6425817_6425821delCA2808334571AIPL1c.794_798del (p.Lys265IlefsTer14)
c.605_609del (p.Lys202IlefsTer14)
c.*666_*670del (n.*666_*670del)
c.728_732del (p.Lys243IlefsTer14)
c.251+8098_251+8102del
c.758_762del (p.Lys253IlefsTer14)
c.*765_*769del (n.*765_*769del)
c.614_618del (p.Lys205IlefsTer14)
c.722_726del (p.Lys241IlefsTer14)
c.677_681del (p.Lys226IlefsTer14)
17g.6425818G>ACA397394904AIPL1c.797C>T (p.Ala266Val)
c.608C>T (p.Ala203Val)
c.*669C>T (n.*669C>T)
c.731C>T (p.Ala244Val)
c.251+8101C>T
c.761C>T (p.Ala254Val)
c.*768C>T (n.*768C>T)
c.617C>T (p.Ala206Val)
c.725C>T (p.Ala242Val)
c.680C>T (p.Ala227Val)
 ClinVar gnomAD v4
17g.6425818G>CCA397394905AIPL1c.797C>G (p.Ala266Gly)
c.608C>G (p.Ala203Gly)
c.*669C>G (n.*669C>G)
c.731C>G (p.Ala244Gly)
c.251+8101C>G
c.761C>G (p.Ala254Gly)
c.*768C>G (n.*768C>G)
c.617C>G (p.Ala206Gly)
c.725C>G (p.Ala242Gly)
c.680C>G (p.Ala227Gly)
17g.6425818G=CA2245347105AIPL1c.797C= (p.Ala266=)
c.608C= (p.Ala203=)
c.*669C= (n.*669C=)
c.731C= (p.Ala244=)
c.251+8101C=
c.761C= (p.Ala254=)
c.*768C= (n.*768C=)
c.617C= (p.Ala206=)
c.725C= (p.Ala242=)
c.680C= (p.Ala227=)
17g.6425818G>TCA397394906AIPL1c.797C>A (p.Ala266Asp)
c.608C>A (p.Ala203Asp)
c.*669C>A (n.*669C>A)
c.731C>A (p.Ala244Asp)
c.251+8101C>A
c.761C>A (p.Ala254Asp)
c.*768C>A (n.*768C>A)
c.617C>A (p.Ala206Asp)
c.725C>A (p.Ala242Asp)
c.680C>A (p.Ala227Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.6425819C>ACA8328379AIPL1c.796G>T (p.Ala266Ser)
c.607G>T (p.Ala203Ser)
c.*668G>T (n.*668G>T)
c.730G>T (p.Ala244Ser)
c.251+8100G>T
c.760G>T (p.Ala254Ser)
c.*767G>T (n.*767G>T)
c.616G>T (p.Ala206Ser)
c.724G>T (p.Ala242Ser)
c.679G>T (p.Ala227Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425819C=CA2245347107AIPL1c.796G= (p.Ala266=)
c.607G= (p.Ala203=)
c.*668G= (n.*668G=)
c.730G= (p.Ala244=)
c.251+8100G=
c.760G= (p.Ala254=)
c.*767G= (n.*767G=)
c.616G= (p.Ala206=)
c.724G= (p.Ala242=)
c.679G= (p.Ala227=)
17g.6425819C>GCA397394907AIPL1c.796G>C (p.Ala266Pro)
c.607G>C (p.Ala203Pro)
c.*668G>C (n.*668G>C)
c.730G>C (p.Ala244Pro)
c.251+8100G>C
c.760G>C (p.Ala254Pro)
c.*767G>C (n.*767G>C)
c.616G>C (p.Ala206Pro)
c.724G>C (p.Ala242Pro)
c.679G>C (p.Ala227Pro)
17g.6425819C>TCA397394908AIPL1c.796G>A (p.Ala266Thr)
c.607G>A (p.Ala203Thr)
c.*668G>A (n.*668G>A)
c.730G>A (p.Ala244Thr)
c.251+8100G>A
c.760G>A (p.Ala254Thr)
c.*767G>A (n.*767G>A)
c.616G>A (p.Ala206Thr)
c.724G>A (p.Ala242Thr)
c.679G>A (p.Ala227Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425820C>ACA397394909AIPL1c.795G>T (p.Lys265Asn)
c.606G>T (p.Lys202Asn)
c.*667G>T (n.*667G>T)
c.729G>T (p.Lys243Asn)
c.251+8099G>T
c.759G>T (p.Lys253Asn)
c.*766G>T (n.*766G>T)
c.615G>T (p.Lys205Asn)
c.723G>T (p.Lys241Asn)
c.678G>T (p.Lys226Asn)
 gnomAD v4
17g.6425820C=CA2245347111AIPL1c.795G= (p.Lys265=)
c.606G= (p.Lys202=)
c.*667G= (n.*667G=)
c.729G= (p.Lys243=)
c.251+8099G=
c.759G= (p.Lys253=)
c.*766G= (n.*766G=)
c.615G= (p.Lys205=)
c.723G= (p.Lys241=)
c.678G= (p.Lys226=)
17g.6425820C>GCA397394910AIPL1c.795G>C (p.Lys265Asn)
c.606G>C (p.Lys202Asn)
c.*667G>C (n.*667G>C)
c.729G>C (p.Lys243Asn)
c.251+8099G>C
c.759G>C (p.Lys253Asn)
c.*766G>C (n.*766G>C)
c.615G>C (p.Lys205Asn)
c.723G>C (p.Lys241Asn)
c.678G>C (p.Lys226Asn)
17g.6425820C>TCA8328380AIPL1c.795G>A (p.Lys265=)
c.606G>A (p.Lys202=)
c.*667G>A (n.*667G>A)
c.729G>A (p.Lys243=)
c.251+8099G>A
c.759G>A (p.Lys253=)
c.*766G>A (n.*766G>A)
c.615G>A (p.Lys205=)
c.723G>A (p.Lys241=)
c.678G>A (p.Lys226=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425821T>ACA397394911AIPL1c.794A>T (p.Lys265Met)
c.605A>T (p.Lys202Met)
c.*666A>T (n.*666A>T)
c.728A>T (p.Lys243Met)
c.251+8098A>T
c.758A>T (p.Lys253Met)
c.*765A>T (n.*765A>T)
c.614A>T (p.Lys205Met)
c.722A>T (p.Lys241Met)
c.677A>T (p.Lys226Met)
17g.6425821T>CCA397394912AIPL1c.794A>G (p.Lys265Arg)
c.605A>G (p.Lys202Arg)
c.*666A>G (n.*666A>G)
c.728A>G (p.Lys243Arg)
c.251+8098A>G
c.758A>G (p.Lys253Arg)
c.*765A>G (n.*765A>G)
c.614A>G (p.Lys205Arg)
c.722A>G (p.Lys241Arg)
c.677A>G (p.Lys226Arg)
17g.6425821T>GCA397394913AIPL1c.794A>C (p.Lys265Thr)
c.605A>C (p.Lys202Thr)
c.*666A>C (n.*666A>C)
c.728A>C (p.Lys243Thr)
c.251+8098A>C
c.758A>C (p.Lys253Thr)
c.*765A>C (n.*765A>C)
c.614A>C (p.Lys205Thr)
c.722A>C (p.Lys241Thr)
c.677A>C (p.Lys226Thr)
17g.6425822T>ACA397394915AIPL1c.793A>T (p.Lys265Ter)
c.604A>T (p.Lys202Ter)
c.*665A>T (n.*665A>T)
c.727A>T (p.Lys243Ter)
c.251+8097A>T
c.757A>T (p.Lys253Ter)
c.*764A>T (n.*764A>T)
c.613A>T (p.Lys205Ter)
c.721A>T (p.Lys241Ter)
c.676A>T (p.Lys226Ter)
17g.6425822T>CCA8328381AIPL1c.793A>G (p.Lys265Glu)
c.604A>G (p.Lys202Glu)
c.*665A>G (n.*665A>G)
c.727A>G (p.Lys243Glu)
c.251+8097A>G
c.757A>G (p.Lys253Glu)
c.*764A>G (n.*764A>G)
c.613A>G (p.Lys205Glu)
c.721A>G (p.Lys241Glu)
c.676A>G (p.Lys226Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425822T>GCA397394914AIPL1c.793A>C (p.Lys265Gln)
c.604A>C (p.Lys202Gln)
c.*665A>C (n.*665A>C)
c.727A>C (p.Lys243Gln)
c.251+8097A>C
c.757A>C (p.Lys253Gln)
c.*764A>C (n.*764A>C)
c.613A>C (p.Lys205Gln)
c.721A>C (p.Lys241Gln)
c.676A>C (p.Lys226Gln)
 gnomAD v4
17g.6425822T=CA2245347112AIPL1c.793A= (p.Lys265=)
c.604A= (p.Lys202=)
c.*665A= (n.*665A=)
c.727A= (p.Lys243=)
c.251+8097A=
c.757A= (p.Lys253=)
c.*764A= (n.*764A=)
c.613A= (p.Lys205=)
c.721A= (p.Lys241=)
c.676A= (p.Lys226=)
17g.6425823C>ACA497687485AIPL1c.792G>T (p.Val264=)
c.603G>T (p.Val201=)
c.*664G>T (n.*664G>T)
c.726G>T (p.Val242=)
c.251+8096G>T
c.756G>T (p.Val252=)
c.*763G>T (n.*763G>T)
c.612G>T (p.Val204=)
c.720G>T (p.Val240=)
c.675G>T (p.Val225=)
 gnomAD v4
17g.6425823C>GCA497687486AIPL1c.792G>C (p.Val264=)
c.603G>C (p.Val201=)
c.*664G>C (n.*664G>C)
c.726G>C (p.Val242=)
c.251+8096G>C
c.756G>C (p.Val252=)
c.*763G>C (n.*763G>C)
c.612G>C (p.Val204=)
c.720G>C (p.Val240=)
c.675G>C (p.Val225=)
17g.6425823C>TCA497687487AIPL1c.792G>A (p.Val264=)
c.603G>A (p.Val201=)
c.*664G>A (n.*664G>A)
c.726G>A (p.Val242=)
c.251+8096G>A
c.756G>A (p.Val252=)
c.*763G>A (n.*763G>A)
c.612G>A (p.Val204=)
c.720G>A (p.Val240=)
c.675G>A (p.Val225=)
 gnomAD v4 COSMIC
17g.6425824A>CCA397394916AIPL1c.791T>G (p.Val264Gly)
c.602T>G (p.Val201Gly)
c.*663T>G (n.*663T>G)
c.725T>G (p.Val242Gly)
c.251+8095T>G
c.755T>G (p.Val252Gly)
c.*762T>G (n.*762T>G)
c.611T>G (p.Val204Gly)
c.719T>G (p.Val240Gly)
c.674T>G (p.Val225Gly)
17g.6425824A>GCA397394917AIPL1c.791T>C (p.Val264Ala)
c.602T>C (p.Val201Ala)
c.*663T>C (n.*663T>C)
c.725T>C (p.Val242Ala)
c.251+8095T>C
c.755T>C (p.Val252Ala)
c.*762T>C (n.*762T>C)
c.611T>C (p.Val204Ala)
c.719T>C (p.Val240Ala)
c.674T>C (p.Val225Ala)
 gnomAD v4
17g.6425824A>TCA397394918AIPL1c.791T>A (p.Val264Glu)
c.602T>A (p.Val201Glu)
c.*663T>A (n.*663T>A)
c.725T>A (p.Val242Glu)
c.251+8095T>A
c.755T>A (p.Val252Glu)
c.*762T>A (n.*762T>A)
c.611T>A (p.Val204Glu)
c.719T>A (p.Val240Glu)
c.674T>A (p.Val225Glu)
17g.6425825C>ACA397394919AIPL1c.790G>T (p.Val264Leu)
c.601G>T (p.Val201Leu)
c.*662G>T (n.*662G>T)
c.724G>T (p.Val242Leu)
c.251+8094G>T
c.754G>T (p.Val252Leu)
c.*761G>T (n.*761G>T)
c.610G>T (p.Val204Leu)
c.718G>T (p.Val240Leu)
c.673G>T (p.Val225Leu)
 gnomAD v4
17g.6425825C=CA2245347114AIPL1c.790G= (p.Val264=)
c.601G= (p.Val201=)
c.*662G= (n.*662G=)
c.724G= (p.Val242=)
c.251+8094G=
c.754G= (p.Val252=)
c.*761G= (n.*761G=)
c.610G= (p.Val204=)
c.718G= (p.Val240=)
c.673G= (p.Val225=)
17g.6425825C>GCA397394920AIPL1c.790G>C (p.Val264Leu)
c.601G>C (p.Val201Leu)
c.*662G>C (n.*662G>C)
c.724G>C (p.Val242Leu)
c.251+8094G>C
c.754G>C (p.Val252Leu)
c.*761G>C (n.*761G>C)
c.610G>C (p.Val204Leu)
c.718G>C (p.Val240Leu)
c.673G>C (p.Val225Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425825C>TCA8328382AIPL1c.790G>A (p.Val264Met)
c.601G>A (p.Val201Met)
c.*662G>A (n.*662G>A)
c.724G>A (p.Val242Met)
c.251+8094G>A
c.754G>A (p.Val252Met)
c.*761G>A (n.*761G>A)
c.610G>A (p.Val204Met)
c.718G>A (p.Val240Met)
c.673G>A (p.Val225Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425825_6425826insACACA2808334577AIPL1c.789_790insTGT (p.Ile263_Val264insCys)
c.600_601insTGT (p.Ile200_Val201insCys)
c.*661_*662insTGT (n.*661_*662insTGT)
c.723_724insTGT (p.Ile241_Val242insCys)
c.251+8093_251+8094insTGT
c.753_754insTGT (p.Ile251_Val252insCys)
c.*760_*761insTGT (n.*760_*761insTGT)
c.609_610insTGT (p.Ile203_Val204insCys)
c.717_718insTGT (p.Ile239_Val240insCys)
c.672_673insTGT (p.Ile224_Val225insCys)
17g.6425826G>ACA497687488AIPL1c.789C>T (p.Ile263=)
c.600C>T (p.Ile200=)
c.*661C>T (n.*661C>T)
c.723C>T (p.Ile241=)
c.251+8093C>T
c.753C>T (p.Ile251=)
c.*760C>T (n.*760C>T)
c.609C>T (p.Ile203=)
c.717C>T (p.Ile239=)
c.672C>T (p.Ile224=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.6425826G>CCA397394921AIPL1c.789C>G (p.Ile263Met)
c.600C>G (p.Ile200Met)
c.*661C>G (n.*661C>G)
c.723C>G (p.Ile241Met)
c.251+8093C>G
c.753C>G (p.Ile251Met)
c.*760C>G (n.*760C>G)
c.609C>G (p.Ile203Met)
c.717C>G (p.Ile239Met)
c.672C>G (p.Ile224Met)
17g.6425826G=CA2245347116AIPL1c.789C= (p.Ile263=)
c.600C= (p.Ile200=)
c.*661C= (n.*661C=)
c.723C= (p.Ile241=)
c.251+8093C=
c.753C= (p.Ile251=)
c.*760C= (n.*760C=)
c.609C= (p.Ile203=)
c.717C= (p.Ile239=)
c.672C= (p.Ile224=)
17g.6425826G>TCA287324008AIPL1c.789C>A (p.Ile263=)
c.600C>A (p.Ile200=)
c.*661C>A (n.*661C>A)
c.723C>A (p.Ile241=)
c.251+8093C>A
c.753C>A (p.Ile251=)
c.*760C>A (n.*760C>A)
c.609C>A (p.Ile203=)
c.717C>A (p.Ile239=)
c.672C>A (p.Ile224=)
 dbSNP gnomAD v4
17g.6425827A=CA2245347120AIPL1c.788T= (p.Ile263=)
c.599T= (p.Ile200=)
c.*660T= (n.*660T=)
c.722T= (p.Ile241=)
c.251+8092T=
c.752T= (p.Ile251=)
c.*759T= (n.*759T=)
c.608T= (p.Ile203=)
c.716T= (p.Ile239=)
c.671T= (p.Ile224=)
17g.6425827A>CCA397394922AIPL1c.788T>G (p.Ile263Ser)
c.599T>G (p.Ile200Ser)
c.*660T>G (n.*660T>G)
c.722T>G (p.Ile241Ser)
c.251+8092T>G
c.752T>G (p.Ile251Ser)
c.*759T>G (n.*759T>G)
c.608T>G (p.Ile203Ser)
c.716T>G (p.Ile239Ser)
c.671T>G (p.Ile224Ser)
17g.6425827A>GCA397394923AIPL1c.788T>C (p.Ile263Thr)
c.599T>C (p.Ile200Thr)
c.*660T>C (n.*660T>C)
c.722T>C (p.Ile241Thr)
c.251+8092T>C
c.752T>C (p.Ile251Thr)
c.*759T>C (n.*759T>C)
c.608T>C (p.Ile203Thr)
c.716T>C (p.Ile239Thr)
c.671T>C (p.Ile224Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425827A>TCA397394924AIPL1c.788T>A (p.Ile263Asn)
c.599T>A (p.Ile200Asn)
c.*660T>A (n.*660T>A)
c.722T>A (p.Ile241Asn)
c.251+8092T>A
c.752T>A (p.Ile251Asn)
c.*759T>A (n.*759T>A)
c.608T>A (p.Ile203Asn)
c.716T>A (p.Ile239Asn)
c.671T>A (p.Ile224Asn)
17g.6425827_6425831delinsATGCCCA2245347119AIPL1c.785-1_788delinsGGCAT
c.596-1_599delinsGGCAT
c.*657-1_*660delinsGGCAT
c.719-1_722delinsGGCAT
c.251+8088_251+8092delinsGGCAT
c.749-1_752delinsGGCAT
c.*755_*759delinsGGCAT (n.*755_*759delinsGGCAT)
c.605-1_608delinsGGCAT
c.713-1_716delinsGGCAT
c.668-1_671delinsGGCAT
17g.6425828T>ACA397394925AIPL1c.787A>T (p.Ile263Phe)
c.598A>T (p.Ile200Phe)
c.*659A>T (n.*659A>T)
c.721A>T (p.Ile241Phe)
c.251+8091A>T
c.751A>T (p.Ile251Phe)
c.*758A>T (n.*758A>T)
c.607A>T (p.Ile203Phe)
c.715A>T (p.Ile239Phe)
c.670A>T (p.Ile224Phe)
17g.6425828T>CCA397394926AIPL1c.787A>G (p.Ile263Val)
c.598A>G (p.Ile200Val)
c.*659A>G (n.*659A>G)
c.721A>G (p.Ile241Val)
c.251+8091A>G
c.751A>G (p.Ile251Val)
c.*758A>G (n.*758A>G)
c.607A>G (p.Ile203Val)
c.715A>G (p.Ile239Val)
c.670A>G (p.Ile224Val)
 gnomAD v4
17g.6425828T>GCA397394927AIPL1c.787A>C (p.Ile263Leu)
c.598A>C (p.Ile200Leu)
c.*659A>C (n.*659A>C)
c.721A>C (p.Ile241Leu)
c.251+8091A>C
c.751A>C (p.Ile251Leu)
c.*758A>C (n.*758A>C)
c.607A>C (p.Ile203Leu)
c.715A>C (p.Ile239Leu)
c.670A>C (p.Ile224Leu)
17g.6425830_6425833delCA624859165AIPL1c.785-1_787del
c.596-1_598del
c.*657-1_*659del
c.719-1_721del
c.251+8088_251+8091del
c.749-1_751del
c.*755_*758del (n.*755_*758del)
c.605-1_607del
c.713-1_715del
c.668-1_670del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6425828_6425840delinsTGCCTGTGGGGAGCA2245347122AIPL1c.785-10_787delinsCTCCCCACAGGCA
c.596-10_598delinsCTCCCCACAGGCA
c.*657-10_*659delinsCTCCCCACAGGCA
c.719-10_721delinsCTCCCCACAGGCA
c.251+8079_251+8091delinsCTCCCCACAGGCA
c.749-10_751delinsCTCCCCACAGGCA
c.*746_*758delinsCTCCCCACAGGCA (n.*746_*758delinsCTCCCCACAGGCA)
c.605-10_607delinsCTCCCCACAGGCA
c.713-10_715delinsCTCCCCACAGGCA
c.668-10_670delinsCTCCCCACAGGCA
17g.6425829G>ACA497687489AIPL1c.786C>T (p.Gly262=)
c.597C>T (p.Gly199=)
c.*658C>T (n.*658C>T)
c.720C>T (p.Gly240=)
c.251+8090C>T
c.750C>T (p.Gly250=)
c.*757C>T (n.*757C>T)
c.606C>T (p.Gly202=)
c.714C>T (p.Gly238=)
c.669C>T (p.Gly223=)
 gnomAD v4
17g.6425829G>CCA497687491AIPL1c.786C>G (p.Gly262=)
c.597C>G (p.Gly199=)
c.*658C>G (n.*658C>G)
c.720C>G (p.Gly240=)
c.251+8090C>G
c.750C>G (p.Gly250=)
c.*757C>G (n.*757C>G)
c.606C>G (p.Gly202=)
c.714C>G (p.Gly238=)
c.669C>G (p.Gly223=)
17g.6425829G=CA2245347124AIPL1c.786C= (p.Gly262=)
c.597C= (p.Gly199=)
c.*658C= (n.*658C=)
c.720C= (p.Gly240=)
c.251+8090C=
c.750C= (p.Gly250=)
c.*757C= (n.*757C=)
c.606C= (p.Gly202=)
c.714C= (p.Gly238=)
c.669C= (p.Gly223=)
17g.6425829G>TCA497687490AIPL1c.786C>A (p.Gly262=)
c.597C>A (p.Gly199=)
c.*658C>A (n.*658C>A)
c.720C>A (p.Gly240=)
c.251+8090C>A
c.750C>A (p.Gly250=)
c.*757C>A (n.*757C>A)
c.606C>A (p.Gly202=)
c.714C>A (p.Gly238=)
c.669C>A (p.Gly223=)
 dbSNP gnomAD v4
17g.6425829_6425840delCA1139665091AIPL1c.785-10_786del
c.596-10_597del
c.*657-10_*658del
c.719-10_720del
c.251+8079_251+8090del
c.749-10_750del
c.*746_*757del (n.*746_*757del)
c.605-10_606del
c.713-10_714del
c.668-10_669del
 ClinVar dbSNP
17g.6425829_6425830insACA2808334579AIPL1c.785_786insT (p.Ile263HisfsTer18)
c.596_597insT (p.Ile200HisfsTer18)
c.*657_*658insT (n.*657_*658insT)
c.719_720insT (p.Ile241HisfsTer18)
c.251+8089_251+8090insT
c.749_750insT (p.Ile251HisfsTer18)
c.*756_*757insT (n.*756_*757insT)
c.605_606insT (p.Ile203HisfsTer18)
c.713_714insT (p.Ile239HisfsTer18)
c.668_669insT (p.Ile224HisfsTer18)
17g.6425830C>ACA8328383AIPL1c.785G>T (p.Gly262Val)
c.596G>T (p.Gly199Val)
c.*657G>T (n.*657G>T)
c.719G>T (p.Gly240Val)
c.251+8089G>T
c.749G>T (p.Gly250Val)
c.*756G>T (n.*756G>T)
c.605G>T (p.Gly202Val)
c.713G>T (p.Gly238Val)
c.668G>T (p.Gly223Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425830C=CA2245347126AIPL1c.785G= (p.Gly262=)
c.596G= (p.Gly199=)
c.*657G= (n.*657G=)
c.719G= (p.Gly240=)
c.251+8089G=
c.749G= (p.Gly250=)
c.*756G= (n.*756G=)
c.605G= (p.Gly202=)
c.713G= (p.Gly238=)
c.668G= (p.Gly223=)
17g.6425830C>GCA397394928AIPL1c.785G>C (p.Gly262Ala)
c.596G>C (p.Gly199Ala)
c.*657G>C (n.*657G>C)
c.719G>C (p.Gly240Ala)
c.251+8089G>C
c.749G>C (p.Gly250Ala)
c.*756G>C (n.*756G>C)
c.605G>C (p.Gly202Ala)
c.713G>C (p.Gly238Ala)
c.668G>C (p.Gly223Ala)
17g.6425830C>TCA287324011AIPL1c.785G>A (p.Gly262Asp)
c.596G>A (p.Gly199Asp)
c.*657G>A (n.*657G>A)
c.719G>A (p.Gly240Asp)
c.251+8089G>A
c.749G>A (p.Gly250Asp)
c.*756G>A (n.*756G>A)
c.605G>A (p.Gly202Asp)
c.713G>A (p.Gly238Asp)
c.668G>A (p.Gly223Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.6425831C>ACA397394929AIPL1c.785-1G>T (n.785-1G>T)
c.596-1G>T (n.596-1G>T)
c.*657-1G>T (n.*657-1G>T)
c.719-1G>T (n.719-1G>T)
c.251+8088G>T
c.749-1G>T (n.749-1G>T)
c.*755G>T (n.*755G>T)
c.605-1G>T (n.605-1G>T)
c.713-1G>T (n.713-1G>T)
c.668-1G>T (n.668-1G>T)
17g.6425831C>GCA397394931AIPL1c.785-1G>C (n.785-1G>C)
c.596-1G>C (n.596-1G>C)
c.*657-1G>C (n.*657-1G>C)
c.719-1G>C (n.719-1G>C)
c.251+8088G>C
c.749-1G>C (n.749-1G>C)
c.*755G>C (n.*755G>C)
c.605-1G>C (n.605-1G>C)
c.713-1G>C (n.713-1G>C)
c.668-1G>C (n.668-1G>C)
 ClinVar dbSNP
17g.6425831C>TCA397394930AIPL1c.785-1G>A (n.785-1G>A)
c.596-1G>A (n.596-1G>A)
c.*657-1G>A (n.*657-1G>A)
c.719-1G>A (n.719-1G>A)
c.251+8088G>A
c.749-1G>A (n.749-1G>A)
c.*755G>A (n.*755G>A)
c.605-1G>A (n.605-1G>A)
c.713-1G>A (n.713-1G>A)
c.668-1G>A (n.668-1G>A)
17g.6425832T>ACA397394932AIPL1c.785-2A>T (n.785-2A>T)
c.596-2A>T (n.596-2A>T)
c.*657-2A>T (n.*657-2A>T)
c.719-2A>T (n.719-2A>T)
c.251+8087A>T
c.749-2A>T (n.749-2A>T)
c.*754A>T (n.*754A>T)
c.605-2A>T (n.605-2A>T)
c.713-2A>T (n.713-2A>T)
c.668-2A>T (n.668-2A>T)
17g.6425832T>CCA397394934AIPL1c.785-2A>G (n.785-2A>G)
c.596-2A>G (n.596-2A>G)
c.*657-2A>G (n.*657-2A>G)
c.719-2A>G (n.719-2A>G)
c.251+8087A>G
c.749-2A>G (n.749-2A>G)
c.*754A>G (n.*754A>G)
c.605-2A>G (n.605-2A>G)
c.713-2A>G (n.713-2A>G)
c.668-2A>G (n.668-2A>G)
 gnomAD v4
17g.6425832T>GCA397394933AIPL1c.785-2A>C (n.785-2A>C)
c.596-2A>C (n.596-2A>C)
c.*657-2A>C (n.*657-2A>C)
c.719-2A>C (n.719-2A>C)
c.251+8087A>C
c.749-2A>C (n.749-2A>C)
c.*754A>C (n.*754A>C)
c.605-2A>C (n.605-2A>C)
c.713-2A>C (n.713-2A>C)
c.668-2A>C (n.668-2A>C)
17g.6425833G=CA2245347129AIPL1c.785-3C= (n.785-3C=)
c.596-3C= (n.596-3C=)
c.*657-3C= (n.*657-3C=)
c.719-3C= (n.719-3C=)
c.251+8086C=
c.749-3C= (n.749-3C=)
c.*753C= (n.*753C=)
c.605-3C= (n.605-3C=)
c.713-3C= (n.713-3C=)
c.668-3C= (n.668-3C=)
17g.6425833G>TCA287324013AIPL1c.785-3C>A (n.785-3C>A)
c.596-3C>A (n.596-3C>A)
c.*657-3C>A (n.*657-3C>A)
c.719-3C>A (n.719-3C>A)
c.251+8086C>A
c.749-3C>A (n.749-3C>A)
c.*753C>A (n.*753C>A)
c.605-3C>A (n.605-3C>A)
c.713-3C>A (n.713-3C>A)
c.668-3C>A (n.668-3C>A)
 dbSNP gnomAD v4
17g.6425834T>ACA624859169AIPL1c.785-4A>T (n.785-4A>T)
c.596-4A>T (n.596-4A>T)
c.*657-4A>T (n.*657-4A>T)
c.719-4A>T (n.719-4A>T)
c.251+8085A>T
c.749-4A>T (n.749-4A>T)
c.*752A>T (n.*752A>T)
c.605-4A>T (n.605-4A>T)
c.713-4A>T (n.713-4A>T)
c.668-4A>T (n.668-4A>T)
 dbSNP gnomAD v2 gnomAD v4
17g.6425834T>CCA2697556146AIPL1c.785-4A>G (n.785-4A>G)
c.596-4A>G (n.596-4A>G)
c.*657-4A>G (n.*657-4A>G)
c.719-4A>G (n.719-4A>G)
c.251+8085A>G
c.749-4A>G (n.749-4A>G)
c.*752A>G (n.*752A>G)
c.605-4A>G (n.605-4A>G)
c.713-4A>G (n.713-4A>G)
c.668-4A>G (n.668-4A>G)
 ClinVar dbSNP
17g.6425834T=CA2245347130AIPL1c.785-4A= (n.785-4A=)
c.596-4A= (n.596-4A=)
c.*657-4A= (n.*657-4A=)
c.719-4A= (n.719-4A=)
c.251+8085A=
c.749-4A= (n.749-4A=)
c.*752A= (n.*752A=)
c.605-4A= (n.605-4A=)
c.713-4A= (n.713-4A=)
c.668-4A= (n.668-4A=)
17g.6425835G>ACA2635688844AIPL1c.785-5C>T (n.785-5C>T)
c.596-5C>T (n.596-5C>T)
c.*657-5C>T (n.*657-5C>T)
c.719-5C>T (n.719-5C>T)
c.251+8084C>T
c.749-5C>T (n.749-5C>T)
c.*751C>T (n.*751C>T)
c.605-5C>T (n.605-5C>T)
c.713-5C>T (n.713-5C>T)
c.668-5C>T (n.668-5C>T)
 gnomAD v4
17g.6425835G>TCA2635688845AIPL1c.785-5C>A (n.785-5C>A)
c.596-5C>A (n.596-5C>A)
c.*657-5C>A (n.*657-5C>A)
c.719-5C>A (n.719-5C>A)
c.251+8084C>A
c.749-5C>A (n.749-5C>A)
c.*751C>A (n.*751C>A)
c.605-5C>A (n.605-5C>A)
c.713-5C>A (n.713-5C>A)
c.668-5C>A (n.668-5C>A)
 gnomAD v4
17g.6425838delCA2733119764AIPL1c.785-5del (n.785-5del)
c.596-5del (n.596-5del)
c.*657-5del (n.*657-5del)
c.719-5del (n.719-5del)
c.251+8084del
c.749-5del (n.749-5del)
c.*751del (n.*751del)
c.605-5del (n.605-5del)
c.713-5del (n.713-5del)
c.668-5del (n.668-5del)
 dbSNP
17g.6425835_6425836insACACA2808334582AIPL1c.785-6_785-5insTGT (n.785-6_785-5insTGT)
c.596-6_596-5insTGT (n.596-6_596-5insTGT)
c.*657-6_*657-5insTGT (n.*657-6_*657-5insTGT)
c.719-6_719-5insTGT (n.719-6_719-5insTGT)
c.251+8083_251+8084insTGT
c.749-6_749-5insTGT (n.749-6_749-5insTGT)
c.*750_*751insTGT (n.*750_*751insTGT)
c.605-6_605-5insTGT (n.605-6_605-5insTGT)
c.713-6_713-5insTGT (n.713-6_713-5insTGT)
c.668-6_668-5insTGT (n.668-6_668-5insTGT)
17g.6425836G>ACA774025409AIPL1c.785-6C>T (n.785-6C>T)
c.596-6C>T (n.596-6C>T)
c.*657-6C>T (n.*657-6C>T)
c.719-6C>T (n.719-6C>T)
c.251+8083C>T
c.749-6C>T (n.749-6C>T)
c.*750C>T (n.*750C>T)
c.605-6C>T (n.605-6C>T)
c.713-6C>T (n.713-6C>T)
c.668-6C>T (n.668-6C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.6425836G=CA2245347132AIPL1c.785-6C= (n.785-6C=)
c.596-6C= (n.596-6C=)
c.*657-6C= (n.*657-6C=)
c.719-6C= (n.719-6C=)
c.251+8083C=
c.749-6C= (n.749-6C=)
c.*750C= (n.*750C=)
c.605-6C= (n.605-6C=)
c.713-6C= (n.713-6C=)
c.668-6C= (n.668-6C=)
17g.6425836G>TCA2635688846AIPL1c.785-6C>A (n.785-6C>A)
c.596-6C>A (n.596-6C>A)
c.*657-6C>A (n.*657-6C>A)
c.719-6C>A (n.719-6C>A)
c.251+8083C>A
c.749-6C>A (n.749-6C>A)
c.*750C>A (n.*750C>A)
c.605-6C>A (n.605-6C>A)
c.713-6C>A (n.713-6C>A)
c.668-6C>A (n.668-6C>A)
 gnomAD v4
17g.6425837G>ACA645590906AIPL1c.785-7C>T (n.785-7C>T)
c.596-7C>T (n.596-7C>T)
c.*657-7C>T (n.*657-7C>T)
c.719-7C>T (n.719-7C>T)
c.251+8082C>T
c.749-7C>T (n.749-7C>T)
c.*749C>T (n.*749C>T)
c.605-7C>T (n.605-7C>T)
c.713-7C>T (n.713-7C>T)
c.668-7C>T (n.668-7C>T)
 gnomAD v4 COSMIC
17g.6425837G>CCA2635688847AIPL1c.785-7C>G (n.785-7C>G)
c.596-7C>G (n.596-7C>G)
c.*657-7C>G (n.*657-7C>G)
c.719-7C>G (n.719-7C>G)
c.251+8082C>G
c.749-7C>G (n.749-7C>G)
c.*749C>G (n.*749C>G)
c.605-7C>G (n.605-7C>G)
c.713-7C>G (n.713-7C>G)
c.668-7C>G (n.668-7C>G)
 gnomAD v4
17g.6425837G>TCA2635688848AIPL1c.785-7C>A (n.785-7C>A)
c.596-7C>A (n.596-7C>A)
c.*657-7C>A (n.*657-7C>A)
c.719-7C>A (n.719-7C>A)
c.251+8082C>A
c.749-7C>A (n.749-7C>A)
c.*749C>A (n.*749C>A)
c.605-7C>A (n.605-7C>A)
c.713-7C>A (n.713-7C>A)
c.668-7C>A (n.668-7C>A)
 gnomAD v4
17g.6425838G>ACA645590907AIPL1c.785-8C>T (n.785-8C>T)
c.596-8C>T (n.596-8C>T)
c.*657-8C>T (n.*657-8C>T)
c.719-8C>T (n.719-8C>T)
c.251+8081C>T
c.749-8C>T (n.749-8C>T)
c.*748C>T (n.*748C>T)
c.605-8C>T (n.605-8C>T)
c.713-8C>T (n.713-8C>T)
c.668-8C>T (n.668-8C>T)
 COSMIC
17g.6425838G>TCA2635688849AIPL1c.785-8C>A (n.785-8C>A)
c.596-8C>A (n.596-8C>A)
c.*657-8C>A (n.*657-8C>A)
c.719-8C>A (n.719-8C>A)
c.251+8081C>A
c.749-8C>A (n.749-8C>A)
c.*748C>A (n.*748C>A)
c.605-8C>A (n.605-8C>A)
c.713-8C>A (n.713-8C>A)
c.668-8C>A (n.668-8C>A)
 gnomAD v4
17g.6425840G>ACA2635688850AIPL1c.785-10C>T (n.785-10C>T)
c.596-10C>T (n.596-10C>T)
c.*657-10C>T (n.*657-10C>T)
c.719-10C>T (n.719-10C>T)
c.251+8079C>T
c.749-10C>T (n.749-10C>T)
c.*746C>T (n.*746C>T)
c.605-10C>T (n.605-10C>T)
c.713-10C>T (n.713-10C>T)
c.668-10C>T (n.668-10C>T)
 gnomAD v4
17g.6425840G>TCA2635688851AIPL1c.785-10C>A (n.785-10C>A)
c.596-10C>A (n.596-10C>A)
c.*657-10C>A (n.*657-10C>A)
c.719-10C>A (n.719-10C>A)
c.251+8079C>A
c.749-10C>A (n.749-10C>A)
c.*746C>A (n.*746C>A)
c.605-10C>A (n.605-10C>A)
c.713-10C>A (n.713-10C>A)
c.668-10C>A (n.668-10C>A)
 gnomAD v4
17g.6425841C=CA2245347134AIPL1c.785-11G= (n.785-11G=)
c.596-11G= (n.596-11G=)
c.*657-11G= (n.*657-11G=)
c.719-11G= (n.719-11G=)
c.251+8078G=
c.749-11G= (n.749-11G=)
c.*745G= (n.*745G=)
c.605-11G= (n.605-11G=)
c.713-11G= (n.713-11G=)
c.668-11G= (n.668-11G=)
17g.6425841C>TCA8328384AIPL1c.785-11G>A (n.785-11G>A)
c.596-11G>A (n.596-11G>A)
c.*657-11G>A (n.*657-11G>A)
c.719-11G>A (n.719-11G>A)
c.251+8078G>A
c.749-11G>A (n.749-11G>A)
c.*745G>A (n.*745G>A)
c.605-11G>A (n.605-11G>A)
c.713-11G>A (n.713-11G>A)
c.668-11G>A (n.668-11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425842A>GCA2635688852AIPL1c.785-12T>C (n.785-12T>C)
c.596-12T>C (n.596-12T>C)
c.*657-12T>C (n.*657-12T>C)
c.719-12T>C (n.719-12T>C)
c.251+8077T>C
c.749-12T>C (n.749-12T>C)
c.*744T>C (n.*744T>C)
c.605-12T>C (n.605-12T>C)
c.713-12T>C (n.713-12T>C)
c.668-12T>C (n.668-12T>C)
 ClinVar gnomAD v4
17g.6425843G>TCA2635688853AIPL1c.785-13C>A (n.785-13C>A)
c.596-13C>A (n.596-13C>A)
c.*657-13C>A (n.*657-13C>A)
c.719-13C>A (n.719-13C>A)
c.251+8076C>A
c.749-13C>A (n.749-13C>A)
c.*743C>A (n.*743C>A)
c.605-13C>A (n.605-13C>A)
c.713-13C>A (n.713-13C>A)
c.668-13C>A (n.668-13C>A)
 gnomAD v4
17g.6425845delCA2808334586AIPL1c.785-13del (n.785-13del)
c.596-13del (n.596-13del)
c.*657-13del (n.*657-13del)
c.719-13del (n.719-13del)
c.251+8076del
c.749-13del (n.749-13del)
c.*743del (n.*743del)
c.605-13del (n.605-13del)
c.713-13del (n.713-13del)
c.668-13del (n.668-13del)
17g.6425844G>ACA2245347137AIPL1c.785-14C>T (n.785-14C>T)
c.596-14C>T (n.596-14C>T)
c.*657-14C>T (n.*657-14C>T)
c.719-14C>T (n.719-14C>T)
c.251+8075C>T
c.749-14C>T (n.749-14C>T)
c.*742C>T (n.*742C>T)
c.605-14C>T (n.605-14C>T)
c.713-14C>T (n.713-14C>T)
c.668-14C>T (n.668-14C>T)
 ClinVar dbSNP gnomAD v4
17g.6425844G>CCA2635688854AIPL1c.785-14C>G (n.785-14C>G)
c.596-14C>G (n.596-14C>G)
c.*657-14C>G (n.*657-14C>G)
c.719-14C>G (n.719-14C>G)
c.251+8075C>G
c.749-14C>G (n.749-14C>G)
c.*742C>G (n.*742C>G)
c.605-14C>G (n.605-14C>G)
c.713-14C>G (n.713-14C>G)
c.668-14C>G (n.668-14C>G)
 gnomAD v4
17g.6425844G=CA2245347136AIPL1c.785-14C= (n.785-14C=)
c.596-14C= (n.596-14C=)
c.*657-14C= (n.*657-14C=)
c.719-14C= (n.719-14C=)
c.251+8075C=
c.749-14C= (n.749-14C=)
c.*742C= (n.*742C=)
c.605-14C= (n.605-14C=)
c.713-14C= (n.713-14C=)
c.668-14C= (n.668-14C=)
17g.6425844G>TCA624859171AIPL1c.785-14C>A (n.785-14C>A)
c.596-14C>A (n.596-14C>A)
c.*657-14C>A (n.*657-14C>A)
c.719-14C>A (n.719-14C>A)
c.251+8075C>A
c.749-14C>A (n.749-14C>A)
c.*742C>A (n.*742C>A)
c.605-14C>A (n.605-14C>A)
c.713-14C>A (n.713-14C>A)
c.668-14C>A (n.668-14C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.6425845G>ACA2635688855AIPL1c.785-15C>T (n.785-15C>T)
c.596-15C>T (n.596-15C>T)
c.*657-15C>T (n.*657-15C>T)
c.719-15C>T (n.719-15C>T)
c.251+8074C>T
c.749-15C>T (n.749-15C>T)
c.*741C>T (n.*741C>T)
c.605-15C>T (n.605-15C>T)
c.713-15C>T (n.713-15C>T)
c.668-15C>T (n.668-15C>T)
 gnomAD v4
17g.6425845G>TCA2635688856AIPL1c.785-15C>A (n.785-15C>A)
c.596-15C>A (n.596-15C>A)
c.*657-15C>A (n.*657-15C>A)
c.719-15C>A (n.719-15C>A)
c.251+8074C>A
c.749-15C>A (n.749-15C>A)
c.*741C>A (n.*741C>A)
c.605-15C>A (n.605-15C>A)
c.713-15C>A (n.713-15C>A)
c.668-15C>A (n.668-15C>A)
 gnomAD v4
17g.6425846A>GCA2635688857AIPL1c.785-16T>C (n.785-16T>C)
c.596-16T>C (n.596-16T>C)
c.*657-16T>C (n.*657-16T>C)
c.719-16T>C (n.719-16T>C)
c.251+8073T>C
c.749-16T>C (n.749-16T>C)
c.*740T>C (n.*740T>C)
c.605-16T>C (n.605-16T>C)
c.713-16T>C (n.713-16T>C)
c.668-16T>C (n.668-16T>C)
 gnomAD v4
17g.6425847delCA2808334591AIPL1c.785-17del (n.785-17del)
c.596-17del (n.596-17del)
c.*657-17del (n.*657-17del)
c.719-17del (n.719-17del)
c.251+8072del
c.749-17del (n.749-17del)
c.*739del (n.*739del)
c.605-17del (n.605-17del)
c.713-17del (n.713-17del)
c.668-17del (n.668-17del)
17g.6425847G>ACA2245347139AIPL1c.785-17C>T (n.785-17C>T)
c.596-17C>T (n.596-17C>T)
c.*657-17C>T (n.*657-17C>T)
c.719-17C>T (n.719-17C>T)
c.251+8072C>T
c.749-17C>T (n.749-17C>T)
c.*739C>T (n.*739C>T)
c.605-17C>T (n.605-17C>T)
c.713-17C>T (n.713-17C>T)
c.668-17C>T (n.668-17C>T)
 dbSNP gnomAD v4
17g.6425847G>CCA2563318022AIPL1c.785-17C>G (n.785-17C>G)
c.596-17C>G (n.596-17C>G)
c.*657-17C>G (n.*657-17C>G)
c.719-17C>G (n.719-17C>G)
c.251+8072C>G
c.749-17C>G (n.749-17C>G)
c.*739C>G (n.*739C>G)
c.605-17C>G (n.605-17C>G)
c.713-17C>G (n.713-17C>G)
c.668-17C>G (n.668-17C>G)
17g.6425847G=CA2245347138AIPL1c.785-17C= (n.785-17C=)
c.596-17C= (n.596-17C=)
c.*657-17C= (n.*657-17C=)
c.719-17C= (n.719-17C=)
c.251+8072C=
c.749-17C= (n.749-17C=)
c.*739C= (n.*739C=)
c.605-17C= (n.605-17C=)
c.713-17C= (n.713-17C=)
c.668-17C= (n.668-17C=)
17g.6425847G>TCA2635688858AIPL1c.785-17C>A (n.785-17C>A)
c.596-17C>A (n.596-17C>A)
c.*657-17C>A (n.*657-17C>A)
c.719-17C>A (n.719-17C>A)
c.251+8072C>A
c.749-17C>A (n.749-17C>A)
c.*739C>A (n.*739C>A)
c.605-17C>A (n.605-17C>A)
c.713-17C>A (n.713-17C>A)
c.668-17C>A (n.668-17C>A)
 gnomAD v4
17g.6425848C>ACA2576142268AIPL1c.785-18G>T (n.785-18G>T)
c.596-18G>T (n.596-18G>T)
c.*657-18G>T (n.*657-18G>T)
c.719-18G>T (n.719-18G>T)
c.251+8071G>T
c.749-18G>T (n.749-18G>T)
c.*738G>T (n.*738G>T)
c.605-18G>T (n.605-18G>T)
c.713-18G>T (n.713-18G>T)
c.668-18G>T (n.668-18G>T)
17g.6425848C>TCA2576142269AIPL1c.785-18G>A (n.785-18G>A)
c.596-18G>A (n.596-18G>A)
c.*657-18G>A (n.*657-18G>A)
c.719-18G>A (n.719-18G>A)
c.251+8071G>A
c.749-18G>A (n.749-18G>A)
c.*738G>A (n.*738G>A)
c.605-18G>A (n.605-18G>A)
c.713-18G>A (n.713-18G>A)
c.668-18G>A (n.668-18G>A)
 gnomAD v4
17g.6425850_6425852delCA2808334592AIPL1c.785-22_785-20del (n.785-22_785-20del)
c.596-22_596-20del (n.596-22_596-20del)
c.*657-22_*657-20del (n.*657-22_*657-20del)
c.719-22_719-20del (n.719-22_719-20del)
c.251+8067_251+8069del
c.749-22_749-20del (n.749-22_749-20del)
c.*734_*736del (n.*734_*736del)
c.605-22_605-20del (n.605-22_605-20del)
c.713-22_713-20del (n.713-22_713-20del)
c.668-22_668-20del (n.668-22_668-20del)
17g.6425851C>ACA2733119782AIPL1c.785-21G>T (n.785-21G>T)
c.596-21G>T (n.596-21G>T)
c.*657-21G>T (n.*657-21G>T)
c.719-21G>T (n.719-21G>T)
c.251+8068G>T
c.749-21G>T (n.749-21G>T)
c.*735G>T (n.*735G>T)
c.605-21G>T (n.605-21G>T)
c.713-21G>T (n.713-21G>T)
c.668-21G>T (n.668-21G>T)
 dbSNP
17g.6425851_6425852insAGACA2808334593AIPL1c.785-22_785-21insTCT (n.785-22_785-21insTCT)
c.596-22_596-21insTCT (n.596-22_596-21insTCT)
c.*657-22_*657-21insTCT (n.*657-22_*657-21insTCT)
c.719-22_719-21insTCT (n.719-22_719-21insTCT)
c.251+8067_251+8068insTCT
c.749-22_749-21insTCT (n.749-22_749-21insTCT)
c.*734_*735insTCT (n.*734_*735insTCT)
c.605-22_605-21insTCT (n.605-22_605-21insTCT)
c.713-22_713-21insTCT (n.713-22_713-21insTCT)
c.668-22_668-21insTCT (n.668-22_668-21insTCT)
17g.6425852C>ACA2635688859AIPL1c.785-22G>T (n.785-22G>T)
c.596-22G>T (n.596-22G>T)
c.*657-22G>T (n.*657-22G>T)
c.719-22G>T (n.719-22G>T)
c.251+8067G>T
c.749-22G>T (n.749-22G>T)
c.*734G>T (n.*734G>T)
c.605-22G>T (n.605-22G>T)
c.713-22G>T (n.713-22G>T)
c.668-22G>T (n.668-22G>T)
 gnomAD v4
17g.6425853A>GCA2558839378AIPL1c.785-23T>C (n.785-23T>C)
c.596-23T>C (n.596-23T>C)
c.*657-23T>C (n.*657-23T>C)
c.719-23T>C (n.719-23T>C)
c.251+8066T>C
c.749-23T>C (n.749-23T>C)
c.*733T>C (n.*733T>C)
c.605-23T>C (n.605-23T>C)
c.713-23T>C (n.713-23T>C)
c.668-23T>C (n.668-23T>C)
 gnomAD v4
17g.6425854G>ACA2635688860AIPL1c.785-24C>T (n.785-24C>T)
c.596-24C>T (n.596-24C>T)
c.*657-24C>T (n.*657-24C>T)
c.719-24C>T (n.719-24C>T)
c.251+8065C>T
c.749-24C>T (n.749-24C>T)
c.*732C>T (n.*732C>T)
c.605-24C>T (n.605-24C>T)
c.713-24C>T (n.713-24C>T)
c.668-24C>T (n.668-24C>T)
 gnomAD v4
17g.6425854_6425855insACA2808334595AIPL1c.785-25_785-24insT (n.785-25_785-24insT)
c.596-25_596-24insT (n.596-25_596-24insT)
c.*657-25_*657-24insT (n.*657-25_*657-24insT)
c.719-25_719-24insT (n.719-25_719-24insT)
c.251+8064_251+8065insT
c.749-25_749-24insT (n.749-25_749-24insT)
c.*731_*732insT (n.*731_*732insT)
c.605-25_605-24insT (n.605-25_605-24insT)
c.713-25_713-24insT (n.713-25_713-24insT)
c.668-25_668-24insT (n.668-25_668-24insT)
17g.6425855C>ACA2245347141AIPL1c.785-25G>T (n.785-25G>T)
c.596-25G>T (n.596-25G>T)
c.*657-25G>T (n.*657-25G>T)
c.719-25G>T (n.719-25G>T)
c.251+8064G>T
c.749-25G>T (n.749-25G>T)
c.*731G>T (n.*731G>T)
c.605-25G>T (n.605-25G>T)
c.713-25G>T (n.713-25G>T)
c.668-25G>T (n.668-25G>T)
 dbSNP gnomAD v4
17g.6425855C=CA2245347140AIPL1c.785-25G= (n.785-25G=)
c.596-25G= (n.596-25G=)
c.*657-25G= (n.*657-25G=)
c.719-25G= (n.719-25G=)
c.251+8064G=
c.749-25G= (n.749-25G=)
c.*731G= (n.*731G=)
c.605-25G= (n.605-25G=)
c.713-25G= (n.713-25G=)
c.668-25G= (n.668-25G=)
17g.6425855C>TCA2808334596AIPL1c.785-25G>A (n.785-25G>A)
c.596-25G>A (n.596-25G>A)
c.*657-25G>A (n.*657-25G>A)
c.719-25G>A (n.719-25G>A)
c.251+8064G>A
c.749-25G>A (n.749-25G>A)
c.*731G>A (n.*731G>A)
c.605-25G>A (n.605-25G>A)
c.713-25G>A (n.713-25G>A)
c.668-25G>A (n.668-25G>A)
17g.6425856T>CCA287324018AIPL1c.785-26A>G (n.785-26A>G)
c.596-26A>G (n.596-26A>G)
c.*657-26A>G (n.*657-26A>G)
c.719-26A>G (n.719-26A>G)
c.251+8063A>G
c.749-26A>G (n.749-26A>G)
c.*730A>G (n.*730A>G)
c.605-26A>G (n.605-26A>G)
c.713-26A>G (n.713-26A>G)
c.668-26A>G (n.668-26A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.6425856T=CA2245347143AIPL1c.785-26A= (n.785-26A=)
c.596-26A= (n.596-26A=)
c.*657-26A= (n.*657-26A=)
c.719-26A= (n.719-26A=)
c.251+8063A=
c.749-26A= (n.749-26A=)
c.*730A= (n.*730A=)
c.605-26A= (n.605-26A=)
c.713-26A= (n.713-26A=)
c.668-26A= (n.668-26A=)
17g.6425857A>GCA2576142270AIPL1c.785-27T>C (n.785-27T>C)
c.596-27T>C (n.596-27T>C)
c.*657-27T>C (n.*657-27T>C)
c.719-27T>C (n.719-27T>C)
c.251+8062T>C
c.749-27T>C (n.749-27T>C)
c.*729T>C (n.*729T>C)
c.605-27T>C (n.605-27T>C)
c.713-27T>C (n.713-27T>C)
c.668-27T>C (n.668-27T>C)
 gnomAD v4
17g.6425858C>ACA2635688861AIPL1c.785-28G>T (n.785-28G>T)
c.596-28G>T (n.596-28G>T)
c.*657-28G>T (n.*657-28G>T)
c.719-28G>T (n.719-28G>T)
c.251+8061G>T
c.749-28G>T (n.749-28G>T)
c.*728G>T (n.*728G>T)
c.605-28G>T (n.605-28G>T)
c.713-28G>T (n.713-28G>T)
c.668-28G>T (n.668-28G>T)
 gnomAD v4
17g.6425858C>TCA2635688862AIPL1c.785-28G>A (n.785-28G>A)
c.596-28G>A (n.596-28G>A)
c.*657-28G>A (n.*657-28G>A)
c.719-28G>A (n.719-28G>A)
c.251+8061G>A
c.749-28G>A (n.749-28G>A)
c.*728G>A (n.*728G>A)
c.605-28G>A (n.605-28G>A)
c.713-28G>A (n.713-28G>A)
c.668-28G>A (n.668-28G>A)
 gnomAD v4
17g.6425859A>GCA2635688863AIPL1c.785-29T>C (n.785-29T>C)
c.596-29T>C (n.596-29T>C)
c.*657-29T>C (n.*657-29T>C)
c.719-29T>C (n.719-29T>C)
c.251+8060T>C
c.749-29T>C (n.749-29T>C)
c.*727T>C (n.*727T>C)
c.605-29T>C (n.605-29T>C)
c.713-29T>C (n.713-29T>C)
c.668-29T>C (n.668-29T>C)
 gnomAD v4
17g.6425859dupCA2808334598AIPL1c.785-29dup (n.785-29dup)
c.596-29dup (n.596-29dup)
c.*657-29dup (n.*657-29dup)
c.719-29dup (n.719-29dup)
c.251+8060dup
c.749-29dup (n.749-29dup)
c.*727dup (n.*727dup)
c.605-29dup (n.605-29dup)
c.713-29dup (n.713-29dup)
c.668-29dup (n.668-29dup)
17g.6425860G>ACA2635688864AIPL1c.785-30C>T (n.785-30C>T)
c.596-30C>T (n.596-30C>T)
c.*657-30C>T (n.*657-30C>T)
c.719-30C>T (n.719-30C>T)
c.251+8059C>T
c.749-30C>T (n.749-30C>T)
c.*726C>T (n.*726C>T)
c.605-30C>T (n.605-30C>T)
c.713-30C>T (n.713-30C>T)
c.668-30C>T (n.668-30C>T)
 gnomAD v4
17g.6425860G>CCA2635688865AIPL1c.785-30C>G (n.785-30C>G)
c.596-30C>G (n.596-30C>G)
c.*657-30C>G (n.*657-30C>G)
c.719-30C>G (n.719-30C>G)
c.251+8059C>G
c.749-30C>G (n.749-30C>G)
c.*726C>G (n.*726C>G)
c.605-30C>G (n.605-30C>G)
c.713-30C>G (n.713-30C>G)
c.668-30C>G (n.668-30C>G)
 gnomAD v4
17g.6425860G>TCA2635688866AIPL1c.785-30C>A (n.785-30C>A)
c.596-30C>A (n.596-30C>A)
c.*657-30C>A (n.*657-30C>A)
c.719-30C>A (n.719-30C>A)
c.251+8059C>A
c.749-30C>A (n.749-30C>A)
c.*726C>A (n.*726C>A)
c.605-30C>A (n.605-30C>A)
c.713-30C>A (n.713-30C>A)
c.668-30C>A (n.668-30C>A)
 gnomAD v4
17g.6425861C>ACA2635688867AIPL1c.785-31G>T (n.785-31G>T)
c.596-31G>T (n.596-31G>T)
c.*657-31G>T (n.*657-31G>T)
c.719-31G>T (n.719-31G>T)
c.251+8058G>T
c.749-31G>T (n.749-31G>T)
c.*725G>T (n.*725G>T)
c.605-31G>T (n.605-31G>T)
c.713-31G>T (n.713-31G>T)
c.668-31G>T (n.668-31G>T)
 gnomAD v4
17g.6425861C=CA2245347145AIPL1c.785-31G= (n.785-31G=)
c.596-31G= (n.596-31G=)
c.*657-31G= (n.*657-31G=)
c.719-31G= (n.719-31G=)
c.251+8058G=
c.749-31G= (n.749-31G=)
c.*725G= (n.*725G=)
c.605-31G= (n.605-31G=)
c.713-31G= (n.713-31G=)
c.668-31G= (n.668-31G=)
17g.6425861C>GCA624859172AIPL1c.785-31G>C (n.785-31G>C)
c.596-31G>C (n.596-31G>C)
c.*657-31G>C (n.*657-31G>C)
c.719-31G>C (n.719-31G>C)
c.251+8058G>C
c.749-31G>C (n.749-31G>C)
c.*725G>C (n.*725G>C)
c.605-31G>C (n.605-31G>C)
c.713-31G>C (n.713-31G>C)
c.668-31G>C (n.668-31G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.6425861C>TCA8328385AIPL1c.785-31G>A (n.785-31G>A)
c.596-31G>A (n.596-31G>A)
c.*657-31G>A (n.*657-31G>A)
c.719-31G>A (n.719-31G>A)
c.251+8058G>A
c.749-31G>A (n.749-31G>A)
c.*725G>A (n.*725G>A)
c.605-31G>A (n.605-31G>A)
c.713-31G>A (n.713-31G>A)
c.668-31G>A (n.668-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.6425862_6425869delCA2808334600AIPL1c.785-38_785-31del (n.785-38_785-31del)
c.596-38_596-31del (n.596-38_596-31del)
c.*657-38_*657-31del (n.*657-38_*657-31del)
c.719-38_719-31del (n.719-38_719-31del)
c.251+8051_251+8058del
c.749-38_749-31del (n.749-38_749-31del)
c.*718_*725del (n.*718_*725del)
c.605-38_605-31del (n.605-38_605-31del)
c.713-38_713-31del (n.713-38_713-31del)
c.668-38_668-31del (n.668-38_668-31del)
17g.6425862T>CCA2635688868AIPL1c.785-32A>G (n.785-32A>G)
c.596-32A>G (n.596-32A>G)
c.*657-32A>G (n.*657-32A>G)
c.719-32A>G (n.719-32A>G)
c.251+8057A>G
c.749-32A>G (n.749-32A>G)
c.*724A>G (n.*724A>G)
c.605-32A>G (n.605-32A>G)
c.713-32A>G (n.713-32A>G)
c.668-32A>G (n.668-32A>G)
 gnomAD v4
17g.6425866_6425870delCA2808334601AIPL1c.785-36_785-32del (n.785-36_785-32del)
c.596-36_596-32del (n.596-36_596-32del)
c.*657-36_*657-32del (n.*657-36_*657-32del)
c.719-36_719-32del (n.719-36_719-32del)
c.251+8053_251+8057del
c.749-36_749-32del (n.749-36_749-32del)
c.*720_*724del (n.*720_*724del)
c.605-36_605-32del (n.605-36_605-32del)
c.713-36_713-32del (n.713-36_713-32del)
c.668-36_668-32del (n.668-36_668-32del)
17g.6425863C=CA2245347147AIPL1c.785-33G= (n.785-33G=)
c.596-33G= (n.596-33G=)
c.*657-33G= (n.*657-33G=)
c.719-33G= (n.719-33G=)
c.251+8056G=
c.749-33G= (n.749-33G=)
c.*723G= (n.*723G=)
c.605-33G= (n.605-33G=)
c.713-33G= (n.713-33G=)
c.668-33G= (n.668-33G=)
17g.6425863C>TCA774025433AIPL1c.785-33G>A (n.785-33G>A)
c.596-33G>A (n.596-33G>A)
c.*657-33G>A (n.*657-33G>A)
c.719-33G>A (n.719-33G>A)
c.251+8056G>A
c.749-33G>A (n.749-33G>A)
c.*723G>A (n.*723G>A)
c.605-33G>A (n.605-33G>A)
c.713-33G>A (n.713-33G>A)
c.668-33G>A (n.668-33G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.6425864C>ACA2635688869AIPL1c.785-34G>T (n.785-34G>T)
c.596-34G>T (n.596-34G>T)
c.*657-34G>T (n.*657-34G>T)
c.719-34G>T (n.719-34G>T)
c.251+8055G>T
c.749-34G>T (n.749-34G>T)
c.*722G>T (n.*722G>T)
c.605-34G>T (n.605-34G>T)
c.713-34G>T (n.713-34G>T)
c.668-34G>T (n.668-34G>T)
 gnomAD v4
17g.6425864C=CA2245347148AIPL1c.785-34G= (n.785-34G=)
c.596-34G= (n.596-34G=)
c.*657-34G= (n.*657-34G=)
c.719-34G= (n.719-34G=)
c.251+8055G=
c.749-34G= (n.749-34G=)
c.*722G= (n.*722G=)
c.605-34G= (n.605-34G=)
c.713-34G= (n.713-34G=)
c.668-34G= (n.668-34G=)
17g.6425864C>GCA624859173AIPL1c.785-34G>C (n.785-34G>C)
c.596-34G>C (n.596-34G>C)
c.*657-34G>C (n.*657-34G>C)
c.719-34G>C (n.719-34G>C)
c.251+8055G>C
c.749-34G>C (n.749-34G>C)
c.*722G>C (n.*722G>C)
c.605-34G>C (n.605-34G>C)
c.713-34G>C (n.713-34G>C)
c.668-34G>C (n.668-34G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.6425864C>TCA2562648340AIPL1c.785-34G>A (n.785-34G>A)
c.596-34G>A (n.596-34G>A)
c.*657-34G>A (n.*657-34G>A)
c.719-34G>A (n.719-34G>A)
c.251+8055G>A
c.749-34G>A (n.749-34G>A)
c.*722G>A (n.*722G>A)
c.605-34G>A (n.605-34G>A)
c.713-34G>A (n.713-34G>A)
c.668-34G>A (n.668-34G>A)
 gnomAD v4
17g.6425864_6425865insACA2808334603AIPL1c.785-35_785-34insT (n.785-35_785-34insT)
c.596-35_596-34insT (n.596-35_596-34insT)
c.*657-35_*657-34insT (n.*657-35_*657-34insT)
c.719-35_719-34insT (n.719-35_719-34insT)
c.251+8054_251+8055insT
c.749-35_749-34insT (n.749-35_749-34insT)
c.*721_*722insT (n.*721_*722insT)
c.605-35_605-34insT (n.605-35_605-34insT)
c.713-35_713-34insT (n.713-35_713-34insT)
c.668-35_668-34insT (n.668-35_668-34insT)
17g.6425865C>ACA2635688870AIPL1c.785-35G>T (n.785-35G>T)
c.596-35G>T (n.596-35G>T)
c.*657-35G>T (n.*657-35G>T)
c.719-35G>T (n.719-35G>T)
c.251+8054G>T
c.749-35G>T (n.749-35G>T)
c.*721G>T (n.*721G>T)
c.605-35G>T (n.605-35G>T)
c.713-35G>T (n.713-35G>T)
c.668-35G>T (n.668-35G>T)
 gnomAD v4
17g.6425865C>TCA2635688871AIPL1c.785-35G>A (n.785-35G>A)
c.596-35G>A (n.596-35G>A)
c.*657-35G>A (n.*657-35G>A)
c.719-35G>A (n.719-35G>A)
c.251+8054G>A
c.749-35G>A (n.749-35G>A)
c.*721G>A (n.*721G>A)
c.605-35G>A (n.605-35G>A)
c.713-35G>A (n.713-35G>A)
c.668-35G>A (n.668-35G>A)
 gnomAD v4
17g.6425866T>ACA2808334604AIPL1c.785-36A>T (n.785-36A>T)
c.596-36A>T (n.596-36A>T)
c.*657-36A>T (n.*657-36A>T)
c.719-36A>T (n.719-36A>T)
c.251+8053A>T
c.749-36A>T (n.749-36A>T)
c.*720A>T (n.*720A>T)
c.605-36A>T (n.605-36A>T)
c.713-36A>T (n.713-36A>T)
c.668-36A>T (n.668-36A>T)
17g.6425867T>CCA2635688872AIPL1c.785-37A>G (n.785-37A>G)
c.596-37A>G (n.596-37A>G)
c.*657-37A>G (n.*657-37A>G)
c.719-37A>G (n.719-37A>G)
c.251+8052A>G
c.749-37A>G (n.749-37A>G)
c.*719A>G (n.*719A>G)
c.605-37A>G (n.605-37A>G)
c.713-37A>G (n.713-37A>G)
c.668-37A>G (n.668-37A>G)
 gnomAD v4
17g.6425867_6425868delinsTCCA2245347150AIPL1c.785-38_785-37delinsGA (n.785-38_785-37delinsGA)
c.596-38_596-37delinsGA (n.596-38_596-37delinsGA)
c.*657-38_*657-37delinsGA (n.*657-38_*657-37delinsGA)
c.719-38_719-37delinsGA (n.719-38_719-37delinsGA)
c.251+8051_251+8052delinsGA
c.749-38_749-37delinsGA (n.749-38_749-37delinsGA)
c.*718_*719delinsGA (n.*718_*719delinsGA)
c.605-38_605-37delinsGA (n.605-38_605-37delinsGA)
c.713-38_713-37delinsGA (n.713-38_713-37delinsGA)
c.668-38_668-37delinsGA (n.668-38_668-37delinsGA)
17g.6425868C>ACA2635688873AIPL1c.785-38G>T (n.785-38G>T)
c.596-38G>T (n.596-38G>T)
c.*657-38G>T (n.*657-38G>T)
c.719-38G>T (n.719-38G>T)
c.251+8051G>T
c.749-38G>T (n.749-38G>T)
c.*718G>T (n.*718G>T)
c.605-38G>T (n.605-38G>T)
c.713-38G>T (n.713-38G>T)
c.668-38G>T (n.668-38G>T)
 gnomAD v4
17g.6425868C=CA2245347152AIPL1c.785-38G= (n.785-38G=)
c.596-38G= (n.596-38G=)
c.*657-38G= (n.*657-38G=)
c.719-38G= (n.719-38G=)
c.251+8051G=
c.749-38G= (n.749-38G=)
c.*718G= (n.*718G=)
c.605-38G= (n.605-38G=)
c.713-38G= (n.713-38G=)
c.668-38G= (n.668-38G=)
17g.6425868C>TCA624859175AIPL1c.785-38G>A (n.785-38G>A)
c.596-38G>A (n.596-38G>A)
c.*657-38G>A (n.*657-38G>A)
c.719-38G>A (n.719-38G>A)
c.251+8051G>A
c.749-38G>A (n.749-38G>A)
c.*718G>A (n.*718G>A)
c.605-38G>A (n.605-38G>A)
c.713-38G>A (n.713-38G>A)
c.668-38G>A (n.668-38G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.6425870delCA774025438AIPL1c.785-38del (n.785-38del)
c.596-38del (n.596-38del)
c.*657-38del (n.*657-38del)
c.719-38del (n.719-38del)
c.251+8051del
c.749-38del (n.749-38del)
c.*718del (n.*718del)
c.605-38del (n.605-38del)
c.713-38del (n.713-38del)
c.668-38del (n.668-38del)
 dbSNP gnomAD v3 gnomAD v4
17g.6425869C>ACA2635688874AIPL1c.785-39G>T (n.785-39G>T)
c.596-39G>T (n.596-39G>T)
c.*657-39G>T (n.*657-39G>T)
c.719-39G>T (n.719-39G>T)
c.251+8050G>T
c.749-39G>T (n.749-39G>T)
c.*717G>T (n.*717G>T)
c.605-39G>T (n.605-39G>T)
c.713-39G>T (n.713-39G>T)
c.668-39G>T (n.668-39G>T)
 gnomAD v4
17g.6425869C=CA2245347154AIPL1c.785-39G= (n.785-39G=)
c.596-39G= (n.596-39G=)
c.*657-39G= (n.*657-39G=)
c.719-39G= (n.719-39G=)
c.251+8050G=
c.749-39G= (n.749-39G=)
c.*717G= (n.*717G=)
c.605-39G= (n.605-39G=)
c.713-39G= (n.713-39G=)
c.668-39G= (n.668-39G=)
17g.6425869C>GCA981100785AIPL1c.785-39G>C (n.785-39G>C)
c.596-39G>C (n.596-39G>C)
c.*657-39G>C (n.*657-39G>C)
c.719-39G>C (n.719-39G>C)
c.251+8050G>C
c.749-39G>C (n.749-39G>C)
c.*717G>C (n.*717G>C)
c.605-39G>C (n.605-39G>C)
c.713-39G>C (n.713-39G>C)
c.668-39G>C (n.668-39G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.6425869C>TCA287324034AIPL1c.785-39G>A (n.785-39G>A)
c.596-39G>A (n.596-39G>A)
c.*657-39G>A (n.*657-39G>A)
c.719-39G>A (n.719-39G>A)
c.251+8050G>A
c.749-39G>A (n.749-39G>A)
c.*717G>A (n.*717G>A)
c.605-39G>A (n.605-39G>A)
c.713-39G>A (n.713-39G>A)
c.668-39G>A (n.668-39G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.6425870C>ACA2635688875AIPL1c.785-40G>T (n.785-40G>T)
c.596-40G>T (n.596-40G>T)
c.*657-40G>T (n.*657-40G>T)
c.719-40G>T (n.719-40G>T)
c.251+8049G>T
c.749-40G>T (n.749-40G>T)
c.*716G>T (n.*716G>T)
c.605-40G>T (n.605-40G>T)
c.713-40G>T (n.713-40G>T)
c.668-40G>T (n.668-40G>T)
 gnomAD v4
17g.6425870C>TCA2635688876AIPL1c.785-40G>A (n.785-40G>A)
c.596-40G>A (n.596-40G>A)
c.*657-40G>A (n.*657-40G>A)
c.719-40G>A (n.719-40G>A)
c.251+8049G>A
c.749-40G>A (n.749-40G>A)
c.*716G>A (n.*716G>A)
c.605-40G>A (n.605-40G>A)
c.713-40G>A (n.713-40G>A)
c.668-40G>A (n.668-40G>A)
 gnomAD v4
17g.6425872G>ACA2635688877AIPL1c.785-42C>T (n.785-42C>T)
c.596-42C>T (n.596-42C>T)
c.*657-42C>T (n.*657-42C>T)
c.719-42C>T (n.719-42C>T)
c.251+8047C>T
c.749-42C>T (n.749-42C>T)
c.*714C>T (n.*714C>T)
c.605-42C>T (n.605-42C>T)
c.713-42C>T (n.713-42C>T)
c.668-42C>T (n.668-42C>T)
 gnomAD v4
17g.6425872G>TCA2635688878AIPL1c.785-42C>A (n.785-42C>A)
c.596-42C>A (n.596-42C>A)
c.*657-42C>A (n.*657-42C>A)
c.719-42C>A (n.719-42C>A)
c.251+8047C>A
c.749-42C>A (n.749-42C>A)
c.*714C>A (n.*714C>A)
c.605-42C>A (n.605-42C>A)
c.713-42C>A (n.713-42C>A)
c.668-42C>A (n.668-42C>A)
 gnomAD v4
17g.6425873C>ACA2635688879AIPL1c.785-43G>T (n.785-43G>T)
c.596-43G>T (n.596-43G>T)
c.*657-43G>T (n.*657-43G>T)
c.719-43G>T (n.719-43G>T)
c.251+8046G>T
c.749-43G>T (n.749-43G>T)
c.*713G>T (n.*713G>T)
c.605-43G>T (n.605-43G>T)
c.713-43G>T (n.713-43G>T)
c.668-43G>T (n.668-43G>T)
 gnomAD v4
17g.6425873C=CA2245347155AIPL1c.785-43G= (n.785-43G=)
c.596-43G= (n.596-43G=)
c.*657-43G= (n.*657-43G=)
c.719-43G= (n.719-43G=)
c.251+8046G=
c.749-43G= (n.749-43G=)
c.*713G= (n.*713G=)
c.605-43G= (n.605-43G=)
c.713-43G= (n.713-43G=)
c.668-43G= (n.668-43G=)
17g.6425873C>GCA2576142271AIPL1c.785-43G>C (n.785-43G>C)
c.596-43G>C (n.596-43G>C)
c.*657-43G>C (n.*657-43G>C)
c.719-43G>C (n.719-43G>C)
c.251+8046G>C
c.749-43G>C (n.749-43G>C)
c.*713G>C (n.*713G>C)
c.605-43G>C (n.605-43G>C)
c.713-43G>C (n.713-43G>C)
c.668-43G>C (n.668-43G>C)
17g.6425873C>TCA774025451AIPL1c.785-43G>A (n.785-43G>A)
c.596-43G>A (n.596-43G>A)
c.*657-43G>A (n.*657-43G>A)
c.719-43G>A (n.719-43G>A)
c.251+8046G>A
c.749-43G>A (n.749-43G>A)
c.*713G>A (n.*713G>A)
c.605-43G>A (n.605-43G>A)
c.713-43G>A (n.713-43G>A)
c.668-43G>A (n.668-43G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.6425874C=CA2245347156AIPL1c.785-44G= (n.785-44G=)
c.596-44G= (n.596-44G=)
c.*657-44G= (n.*657-44G=)
c.719-44G= (n.719-44G=)
c.251+8045G=
c.749-44G= (n.749-44G=)
c.*712G= (n.*712G=)
c.605-44G= (n.605-44G=)
c.713-44G= (n.713-44G=)
c.668-44G= (n.668-44G=)
17g.6425874C>GCA2245347158AIPL1c.785-44G>C (n.785-44G>C)
c.596-44G>C (n.596-44G>C)
c.*657-44G>C (n.*657-44G>C)
c.719-44G>C (n.719-44G>C)
c.251+8045G>C
c.749-44G>C (n.749-44G>C)
c.*712G>C (n.*712G>C)
c.605-44G>C (n.605-44G>C)
c.713-44G>C (n.713-44G>C)
c.668-44G>C (n.668-44G>C)
 dbSNP gnomAD v4
17g.6425874_6425875insATCA2808334607AIPL1c.785-45_785-44insAT (n.785-45_785-44insAT)
c.596-45_596-44insAT (n.596-45_596-44insAT)
c.*657-45_*657-44insAT (n.*657-45_*657-44insAT)
c.719-45_719-44insAT (n.719-45_719-44insAT)
c.251+8044_251+8045insAT
c.749-45_749-44insAT (n.749-45_749-44insAT)
c.*711_*712insAT (n.*711_*712insAT)
c.605-45_605-44insAT (n.605-45_605-44insAT)
c.713-45_713-44insAT (n.713-45_713-44insAT)
c.668-45_668-44insAT (n.668-45_668-44insAT)
17g.6425875T>CCA2635688880AIPL1c.785-45A>G (n.785-45A>G)
c.596-45A>G (n.596-45A>G)
c.*657-45A>G (n.*657-45A>G)
c.719-45A>G (n.719-45A>G)
c.251+8044A>G
c.749-45A>G (n.749-45A>G)
c.*711A>G (n.*711A>G)
c.605-45A>G (n.605-45A>G)
c.713-45A>G (n.713-45A>G)
c.668-45A>G (n.668-45A>G)
 gnomAD v4
17g.6425876delCA2808334608AIPL1c.785-46del (n.785-46del)
c.596-46del (n.596-46del)
c.*657-46del (n.*657-46del)
c.719-46del (n.719-46del)
c.251+8043del
c.749-46del (n.749-46del)
c.*710del (n.*710del)
c.605-46del (n.605-46del)
c.713-46del (n.713-46del)
c.668-46del (n.668-46del)
17g.6425876C>ACA2635688881AIPL1c.785-46G>T (n.785-46G>T)
c.596-46G>T (n.596-46G>T)
c.*657-46G>T (n.*657-46G>T)
c.719-46G>T (n.719-46G>T)
c.251+8043G>T
c.749-46G>T (n.749-46G>T)
c.*710G>T (n.*710G>T)
c.605-46G>T (n.605-46G>T)
c.713-46G>T (n.713-46G>T)
c.668-46G>T (n.668-46G>T)
 gnomAD v4
17g.6425876C>TCA2635688882AIPL1c.785-46G>A (n.785-46G>A)
c.596-46G>A (n.596-46G>A)
c.*657-46G>A (n.*657-46G>A)
c.719-46G>A (n.719-46G>A)
c.251+8043G>A
c.749-46G>A (n.749-46G>A)
c.*710G>A (n.*710G>A)
c.605-46G>A (n.605-46G>A)
c.713-46G>A (n.713-46G>A)
c.668-46G>A (n.668-46G>A)
 gnomAD v4
17g.6425877A>GCA2635688883AIPL1c.785-47T>C (n.785-47T>C)
c.596-47T>C (n.596-47T>C)
c.*657-47T>C (n.*657-47T>C)
c.719-47T>C (n.719-47T>C)
c.251+8042T>C
c.749-47T>C (n.749-47T>C)
c.*709T>C (n.*709T>C)
c.605-47T>C (n.605-47T>C)
c.713-47T>C (n.713-47T>C)
c.668-47T>C (n.668-47T>C)
 gnomAD v4
17g.6425878G>TCA2635688884AIPL1c.785-48C>A (n.785-48C>A)
c.596-48C>A (n.596-48C>A)
c.*657-48C>A (n.*657-48C>A)
c.719-48C>A (n.719-48C>A)
c.251+8041C>A
c.749-48C>A (n.749-48C>A)
c.*708C>A (n.*708C>A)
c.605-48C>A (n.605-48C>A)
c.713-48C>A (n.713-48C>A)
c.668-48C>A (n.668-48C>A)
 gnomAD v4
17g.6425878_6425879insTCA2808334609AIPL1c.785-49_785-48insA (n.785-49_785-48insA)
c.596-49_596-48insA (n.596-49_596-48insA)
c.*657-49_*657-48insA (n.*657-49_*657-48insA)
c.719-49_719-48insA (n.719-49_719-48insA)
c.251+8040_251+8041insA
c.749-49_749-48insA (n.749-49_749-48insA)
c.*707_*708insA (n.*707_*708insA)
c.605-49_605-48insA (n.605-49_605-48insA)
c.713-49_713-48insA (n.713-49_713-48insA)
c.668-49_668-48insA (n.668-49_668-48insA)
17g.6425880G>ACA2635688885AIPL1c.785-50C>T (n.785-50C>T)
c.596-50C>T (n.596-50C>T)
c.*657-50C>T (n.*657-50C>T)
c.719-50C>T (n.719-50C>T)
c.251+8039C>T
c.749-50C>T (n.749-50C>T)
c.*706C>T (n.*706C>T)
c.605-50C>T (n.605-50C>T)
c.713-50C>T (n.713-50C>T)
c.668-50C>T (n.668-50C>T)
 gnomAD v4
17g.6425880G>CCA2635688886AIPL1c.785-50C>G (n.785-50C>G)
c.596-50C>G (n.596-50C>G)
c.*657-50C>G (n.*657-50C>G)
c.719-50C>G (n.719-50C>G)
c.251+8039C>G
c.749-50C>G (n.749-50C>G)
c.*706C>G (n.*706C>G)
c.605-50C>G (n.605-50C>G)
c.713-50C>G (n.713-50C>G)
c.668-50C>G (n.668-50C>G)
 gnomAD v4
17g.6425880G>TCA2635688887AIPL1c.785-50C>A (n.785-50C>A)
c.596-50C>A (n.596-50C>A)
c.*657-50C>A (n.*657-50C>A)
c.719-50C>A (n.719-50C>A)
c.251+8039C>A
c.749-50C>A (n.749-50C>A)
c.*706C>A (n.*706C>A)
c.605-50C>A (n.605-50C>A)
c.713-50C>A (n.713-50C>A)
c.668-50C>A (n.668-50C>A)
 gnomAD v4
17g.6425881G>ACA2635688888AIPL1c.785-51C>T (n.785-51C>T)
c.596-51C>T (n.596-51C>T)
c.*657-51C>T (n.*657-51C>T)
c.719-51C>T (n.719-51C>T)
c.251+8038C>T
c.749-51C>T (n.749-51C>T)
c.*705C>T (n.*705C>T)
c.605-51C>T (n.605-51C>T)
c.713-51C>T (n.713-51C>T)
c.668-51C>T (n.668-51C>T)
 gnomAD v4
17g.6425881G>TCA2635688889AIPL1c.785-51C>A (n.785-51C>A)
c.596-51C>A (n.596-51C>A)
c.*657-51C>A (n.*657-51C>A)
c.719-51C>A (n.719-51C>A)
c.251+8038C>A
c.749-51C>A (n.749-51C>A)
c.*705C>A (n.*705C>A)
c.605-51C>A (n.605-51C>A)
c.713-51C>A (n.713-51C>A)
c.668-51C>A (n.668-51C>A)
 gnomAD v4
17g.6425881_6425882insACA2808334615AIPL1c.785-52_785-51insT (n.785-52_785-51insT)
c.596-52_596-51insT (n.596-52_596-51insT)
c.*657-52_*657-51insT (n.*657-52_*657-51insT)
c.719-52_719-51insT (n.719-52_719-51insT)
c.251+8037_251+8038insT
c.749-52_749-51insT (n.749-52_749-51insT)
c.*704_*705insT (n.*704_*705insT)
c.605-52_605-51insT (n.605-52_605-51insT)
c.713-52_713-51insT (n.713-52_713-51insT)
c.668-52_668-51insT (n.668-52_668-51insT)
17g.6425881_6425882insACACA2808334614AIPL1c.785-52_785-51insTGT (n.785-52_785-51insTGT)
c.596-52_596-51insTGT (n.596-52_596-51insTGT)
c.*657-52_*657-51insTGT (n.*657-52_*657-51insTGT)
c.719-52_719-51insTGT (n.719-52_719-51insTGT)
c.251+8037_251+8038insTGT
c.749-52_749-51insTGT (n.749-52_749-51insTGT)
c.*704_*705insTGT (n.*704_*705insTGT)
c.605-52_605-51insTGT (n.605-52_605-51insTGT)
c.713-52_713-51insTGT (n.713-52_713-51insTGT)
c.668-52_668-51insTGT (n.668-52_668-51insTGT)
17g.6425881_6425882insACTCA2808334613AIPL1c.785-52_785-51insAGT (n.785-52_785-51insAGT)
c.596-52_596-51insAGT (n.596-52_596-51insAGT)
c.*657-52_*657-51insAGT (n.*657-52_*657-51insAGT)
c.719-52_719-51insAGT (n.719-52_719-51insAGT)
c.251+8037_251+8038insAGT
c.749-52_749-51insAGT (n.749-52_749-51insAGT)
c.*704_*705insAGT (n.*704_*705insAGT)
c.605-52_605-51insAGT (n.605-52_605-51insAGT)
c.713-52_713-51insAGT (n.713-52_713-51insAGT)
c.668-52_668-51insAGT (n.668-52_668-51insAGT)
17g.6425882C>ACA2635688890AIPL1c.785-52G>T (n.785-52G>T)
c.596-52G>T (n.596-52G>T)
c.*657-52G>T (n.*657-52G>T)
c.719-52G>T (n.719-52G>T)
c.251+8037G>T
c.749-52G>T (n.749-52G>T)
c.*704G>T (n.*704G>T)
c.605-52G>T (n.605-52G>T)
c.713-52G>T (n.713-52G>T)
c.668-52G>T (n.668-52G>T)
 gnomAD v4
17g.6425882C>GCA2808334612AIPL1c.785-52G>C (n.785-52G>C)
c.596-52G>C (n.596-52G>C)
c.*657-52G>C (n.*657-52G>C)
c.719-52G>C (n.719-52G>C)
c.251+8037G>C
c.749-52G>C (n.749-52G>C)
c.*704G>C (n.*704G>C)
c.605-52G>C (n.605-52G>C)
c.713-52G>C (n.713-52G>C)
c.668-52G>C (n.668-52G>C)
17g.6425882C>TCA2635688891AIPL1c.785-52G>A (n.785-52G>A)
c.596-52G>A (n.596-52G>A)
c.*657-52G>A (n.*657-52G>A)
c.719-52G>A (n.719-52G>A)
c.251+8037G>A
c.749-52G>A (n.749-52G>A)
c.*704G>A (n.*704G>A)
c.605-52G>A (n.605-52G>A)
c.713-52G>A (n.713-52G>A)
c.668-52G>A (n.668-52G>A)
 gnomAD v4

Number of alleles fetched