Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108573517_108573525delCA334179503COL4A5c.466-57_466-49del (n.466-57_466-49del)
c.142-57_142-49del (n.142-57_142-49del)
c.481-57_481-49del (n.481-57_481-49del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573527A=CA2450680760COL4A5c.466-47A= (n.466-47A=)
c.142-47A= (n.142-47A=)
c.481-47A= (n.481-47A=)
Xg.108573527A>GCA643749607COL4A5c.466-47A>G (n.466-47A>G)
c.142-47A>G (n.142-47A>G)
c.481-47A>G (n.481-47A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108573528T>CCA2694411123COL4A5c.466-46T>C (n.466-46T>C)
c.142-46T>C (n.142-46T>C)
c.481-46T>C (n.481-46T>C)
 gnomAD v4
Xg.108573529G>ACA869820157COL4A5c.466-45G>A (n.466-45G>A)
c.142-45G>A (n.142-45G>A)
c.481-45G>A (n.481-45G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573529G=CA2450680761COL4A5c.466-45G= (n.466-45G=)
c.142-45G= (n.142-45G=)
c.481-45G= (n.481-45G=)
Xg.108573530T>ACA10488475COL4A5c.466-44T>A (n.466-44T>A)
c.142-44T>A (n.142-44T>A)
c.481-44T>A (n.481-44T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573530T=CA2450680762COL4A5c.466-44T= (n.466-44T=)
c.142-44T= (n.142-44T=)
c.481-44T= (n.481-44T=)
Xg.108573534_108573540delinsATAACTGCA2450680763COL4A5c.466-40_466-34delinsATAACTG (n.466-40_466-34delinsATAACTG)
c.142-40_142-34delinsATAACTG (n.142-40_142-34delinsATAACTG)
c.481-40_481-34delinsATAACTG (n.481-40_481-34delinsATAACTG)
Xg.108573536_108573541delCA2450680764COL4A5c.466-38_466-33del (n.466-38_466-33del)
c.142-38_142-33del (n.142-38_142-33del)
c.481-38_481-33del (n.481-38_481-33del)
 dbSNP
Xg.108573537A=CA2450680766COL4A5c.466-37A= (n.466-37A=)
c.142-37A= (n.142-37A=)
c.481-37A= (n.481-37A=)
Xg.108573537A>GCA2694411127COL4A5c.466-37A>G (n.466-37A>G)
c.142-37A>G (n.142-37A>G)
c.481-37A>G (n.481-37A>G)
 gnomAD v4
Xg.108573537A>TCA10488476COL4A5c.466-37A>T (n.466-37A>T)
c.142-37A>T (n.142-37A>T)
c.481-37A>T (n.481-37A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573538C>ACA2694411131COL4A5c.466-36C>A (n.466-36C>A)
c.142-36C>A (n.142-36C>A)
c.481-36C>A (n.481-36C>A)
 gnomAD v4
Xg.108573542_108573543delCA2579675870COL4A5c.466-32_466-31del (n.466-32_466-31del)
c.142-32_142-31del (n.142-32_142-31del)
c.481-32_481-31del (n.481-32_481-31del)
 gnomAD v4
Xg.108573540G>ACA2694411132COL4A5c.466-34G>A (n.466-34G>A)
c.142-34G>A (n.142-34G>A)
c.481-34G>A (n.481-34G>A)
 gnomAD v4
Xg.108573542G>ACA2694411134COL4A5c.466-32G>A (n.466-32G>A)
c.142-32G>A (n.142-32G>A)
c.481-32G>A (n.481-32G>A)
 gnomAD v4
Xg.108573542G>TCA2579675871COL4A5c.466-32G>T (n.466-32G>T)
c.142-32G>T (n.142-32G>T)
c.481-32G>T (n.481-32G>T)
Xg.108573544delCA2562528176COL4A5c.466-30del (n.466-30del)
c.142-30del (n.142-30del)
c.481-30del (n.481-30del)
Xg.108573544C>ACA2694411138COL4A5c.466-30C>A (n.466-30C>A)
c.142-30C>A (n.142-30C>A)
c.481-30C>A (n.481-30C>A)
 gnomAD v4
Xg.108573544C>TCA2694411139COL4A5c.466-30C>T (n.466-30C>T)
c.142-30C>T (n.142-30C>T)
c.481-30C>T (n.481-30C>T)
 gnomAD v4
Xg.108573545T>ACA2579675872COL4A5c.466-29T>A (n.466-29T>A)
c.142-29T>A (n.142-29T>A)
c.481-29T>A (n.481-29T>A)
Xg.108573545T>CCA2694411140COL4A5c.466-29T>C (n.466-29T>C)
c.142-29T>C (n.142-29T>C)
c.481-29T>C (n.481-29T>C)
 gnomAD v4
Xg.108573546T>CCA2694411141COL4A5c.466-28T>C (n.466-28T>C)
c.142-28T>C (n.142-28T>C)
c.481-28T>C (n.481-28T>C)
 gnomAD v4
Xg.108573547A>GCA2694411143COL4A5c.466-27A>G (n.466-27A>G)
c.142-27A>G (n.142-27A>G)
c.481-27A>G (n.481-27A>G)
 gnomAD v4
Xg.108573547A>TCA2579675873COL4A5c.466-27A>T (n.466-27A>T)
c.142-27A>T (n.142-27A>T)
c.481-27A>T (n.481-27A>T)
 gnomAD v4
Xg.108573548_108573549delCA2694411142COL4A5c.466-26_466-25del (n.466-26_466-25del)
c.142-26_142-25del (n.142-26_142-25del)
c.481-26_481-25del (n.481-26_481-25del)
 gnomAD v4
Xg.108573548G=CA2450680767COL4A5c.466-26G= (n.466-26G=)
c.142-26G= (n.142-26G=)
c.481-26G= (n.481-26G=)
Xg.108573548G>TCA643749608COL4A5c.466-26G>T (n.466-26G>T)
c.142-26G>T (n.142-26G>T)
c.481-26G>T (n.481-26G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108573549A>GCA2694411147COL4A5c.466-25A>G (n.466-25A>G)
c.142-25A>G (n.142-25A>G)
c.481-25A>G (n.481-25A>G)
 gnomAD v4
Xg.108573551C>ACA2694411148COL4A5c.466-23C>A (n.466-23C>A)
c.142-23C>A (n.142-23C>A)
c.481-23C>A (n.481-23C>A)
 gnomAD v4
Xg.108573551C>TCA2694411149COL4A5c.466-23C>T (n.466-23C>T)
c.142-23C>T (n.142-23C>T)
c.481-23C>T (n.481-23C>T)
 gnomAD v4
Xg.108573552T>ACA2694411150COL4A5c.466-22T>A (n.466-22T>A)
c.142-22T>A (n.142-22T>A)
c.481-22T>A (n.481-22T>A)
 gnomAD v4
Xg.108573553T>CCA2694411151COL4A5c.466-21T>C (n.466-21T>C)
c.142-21T>C (n.142-21T>C)
c.481-21T>C (n.481-21T>C)
 gnomAD v4
Xg.108573554C>ACA2694411152COL4A5c.466-20C>A (n.466-20C>A)
c.142-20C>A (n.142-20C>A)
c.481-20C>A (n.481-20C>A)
 gnomAD v4
Xg.108573554C>TCA2694411153COL4A5c.466-20C>T (n.466-20C>T)
c.142-20C>T (n.142-20C>T)
c.481-20C>T (n.481-20C>T)
 gnomAD v4
Xg.108573555C>ACA2694411154COL4A5c.466-19C>A (n.466-19C>A)
c.142-19C>A (n.142-19C>A)
c.481-19C>A (n.481-19C>A)
 gnomAD v4
Xg.108573555C>TCA2694411155COL4A5c.466-19C>T (n.466-19C>T)
c.142-19C>T (n.142-19C>T)
c.481-19C>T (n.481-19C>T)
 gnomAD v4
Xg.108573556A>GCA2694411156COL4A5c.466-18A>G (n.466-18A>G)
c.142-18A>G (n.142-18A>G)
c.481-18A>G (n.481-18A>G)
 gnomAD v4
Xg.108573557T>CCA643749609COL4A5c.466-17T>C (n.466-17T>C)
c.142-17T>C (n.142-17T>C)
c.481-17T>C (n.481-17T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573557T>GCA258252COL4A5c.466-17T>G (n.466-17T>G)
c.142-17T>G (n.142-17T>G)
c.481-17T>G (n.481-17T>G)
 dbSNP
Xg.108573557T=CA2450680770COL4A5c.466-17T= (n.466-17T=)
c.142-17T= (n.142-17T=)
c.481-17T= (n.481-17T=)
Xg.108573558T>CCA2694411157COL4A5c.466-16T>C (n.466-16T>C)
c.142-16T>C (n.142-16T>C)
c.481-16T>C (n.481-16T>C)
 gnomAD v4
Xg.108573561T>ACA891843907COL4A5c.466-13T>A (n.466-13T>A)
c.142-13T>A (n.142-13T>A)
c.481-13T>A (n.481-13T>A)
 ClinVar dbSNP
Xg.108573561T=CA2450680771COL4A5c.466-13T= (n.466-13T=)
c.142-13T= (n.142-13T=)
c.481-13T= (n.481-13T=)
Xg.108573562G>ACA258253COL4A5c.466-12G>A (n.466-12G>A)
c.142-12G>A (n.142-12G>A)
c.481-12G>A (n.481-12G>A)
 ClinVar dbSNP gnomAD v4
Xg.108573562G=CA2450680773COL4A5c.466-12G= (n.466-12G=)
c.142-12G= (n.142-12G=)
c.481-12G= (n.481-12G=)
Xg.108573563G>ACA2694411158COL4A5c.466-11G>A (n.466-11G>A)
c.142-11G>A (n.142-11G>A)
c.481-11G>A (n.481-11G>A)
 gnomAD v4
Xg.108573564C>ACA2579675874COL4A5c.466-10C>A (n.466-10C>A)
c.142-10C>A (n.142-10C>A)
c.481-10C>A (n.481-10C>A)
 gnomAD v4
Xg.108573564C=CA2450680709COL4A5c.466-10C= (n.466-10C=)
c.142-10C= (n.142-10C=)
c.481-10C= (n.481-10C=)
Xg.108573564C>TCA1136177481COL4A5c.466-10C>T (n.466-10C>T)
c.142-10C>T (n.142-10C>T)
c.481-10C>T (n.481-10C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573565T>CCA2694411159COL4A5c.466-9T>C (n.466-9T>C)
c.142-9T>C (n.142-9T>C)
c.481-9T>C (n.481-9T>C)
 gnomAD v4
Xg.108573566T>CCA2694411160COL4A5c.466-8T>C (n.466-8T>C)
c.142-8T>C (n.142-8T>C)
c.481-8T>C (n.481-8T>C)
 gnomAD v4
Xg.108573567C>ACA1136177487COL4A5c.466-7C>A (n.466-7C>A)
c.142-7C>A (n.142-7C>A)
c.481-7C>A (n.481-7C>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573567C=CA2450680710COL4A5c.466-7C= (n.466-7C=)
c.142-7C= (n.142-7C=)
c.481-7C= (n.481-7C=)
Xg.108573567C>TCA643749610COL4A5c.466-7C>T (n.466-7C>T)
c.142-7C>T (n.142-7C>T)
c.481-7C>T (n.481-7C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108573568T>CCA645608361COL4A5c.466-6T>C (n.466-6T>C)
c.142-6T>C (n.142-6T>C)
c.481-6T>C (n.481-6T>C)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.108573568T=CA2450680711COL4A5c.466-6T= (n.466-6T=)
c.142-6T= (n.142-6T=)
c.481-6T= (n.481-6T=)
Xg.108573571delCA2579675875COL4A5c.466-3del (n.466-3del)
c.142-3del (n.142-3del)
c.481-3del (n.481-3del)
 gnomAD v4
Xg.108573570T>CCA2694411161COL4A5c.466-4T>C (n.466-4T>C)
c.142-4T>C (n.142-4T>C)
c.481-4T>C (n.481-4T>C)
 gnomAD v4
Xg.108573571T>ACA2694411162COL4A5c.466-3T>A (n.466-3T>A)
c.142-3T>A (n.142-3T>A)
c.481-3T>A (n.481-3T>A)
 gnomAD v4
Xg.108573571T>CCA2694411163COL4A5c.466-3T>C (n.466-3T>C)
c.142-3T>C (n.142-3T>C)
c.481-3T>C (n.481-3T>C)
 gnomAD v4
Xg.108573572A=CA2450680712COL4A5c.466-2A= (n.466-2A=)
c.142-2A= (n.142-2A=)
c.481-2A= (n.481-2A=)
Xg.108573572A>CCA413920681COL4A5c.466-2A>C (n.466-2A>C)
c.142-2A>C (n.142-2A>C)
c.481-2A>C (n.481-2A>C)
Xg.108573572A>GCA258254COL4A5c.466-2A>G (n.466-2A>G)
c.142-2A>G (n.142-2A>G)
c.481-2A>G (n.481-2A>G)
 dbSNP gnomAD v4
Xg.108573572A>TCA413920685COL4A5c.466-2A>T (n.466-2A>T)
c.142-2A>T (n.142-2A>T)
c.481-2A>T (n.481-2A>T)
Xg.108573573G>ACA413920692COL4A5c.466-1G>A (n.466-1G>A)
c.142-1G>A (n.142-1G>A)
c.481-1G>A (n.481-1G>A)
Xg.108573573G>CCA413920693COL4A5c.466-1G>C (n.466-1G>C)
c.142-1G>C (n.142-1G>C)
c.481-1G>C (n.481-1G>C)
 ClinVar dbSNP
Xg.108573573G>TCA413920689COL4A5c.466-1G>T (n.466-1G>T)
c.142-1G>T (n.142-1G>T)
c.481-1G>T (n.481-1G>T)
Xg.108573574G>ACA413920699COL4A5c.466G>A (p.Gly156Ser)
c.142G>A (p.Gly48Ser)
c.481G>A (p.Gly161Ser)
Xg.108573574G>CCA413920697COL4A5c.466G>C (p.Gly156Arg)
c.142G>C (p.Gly48Arg)
c.481G>C (p.Gly161Arg)
 ClinVar dbSNP
Xg.108573574G>TCA413920702COL4A5c.466G>T (p.Gly156Cys)
c.142G>T (p.Gly48Cys)
c.481G>T (p.Gly161Cys)
Xg.108573575G>ACA413920705COL4A5c.467G>A (p.Gly156Asp)
c.143G>A (p.Gly48Asp)
c.482G>A (p.Gly161Asp)
 ClinVar COSMIC
Xg.108573575G>CCA413920711COL4A5c.467G>C (p.Gly156Ala)
c.143G>C (p.Gly48Ala)
c.482G>C (p.Gly161Ala)
Xg.108573575G=CA2450680713COL4A5c.467G= (p.Gly156=)
c.143G= (p.Gly48=)
c.482G= (p.Gly161=)
Xg.108573575G>TCA413920707COL4A5c.467G>T (p.Gly156Val)
c.143G>T (p.Gly48Val)
c.482G>T (p.Gly161Val)
 ClinVar dbSNP
Xg.108573576T>ACA517991591COL4A5c.468T>A (p.Gly156=)
c.144T>A (p.Gly48=)
c.483T>A (p.Gly161=)
Xg.108573576T>CCA517991592COL4A5c.468T>C (p.Gly156=)
c.144T>C (p.Gly48=)
c.483T>C (p.Gly161=)
Xg.108573576T>GCA517991593COL4A5c.468T>G (p.Gly156=)
c.144T>G (p.Gly48=)
c.483T>G (p.Gly161=)
Xg.108573577G>ACA413920714COL4A5c.469G>A (p.Glu157Lys)
c.145G>A (p.Glu49Lys)
c.484G>A (p.Glu162Lys)
 gnomAD v4
Xg.108573577G>CCA413920716COL4A5c.469G>C (p.Glu157Gln)
c.145G>C (p.Glu49Gln)
c.484G>C (p.Glu162Gln)
Xg.108573577G>TCA413920718COL4A5c.469G>T (p.Glu157Ter)
c.145G>T (p.Glu49Ter)
c.484G>T (p.Glu162Ter)
 ClinVar
Xg.108573578A>CCA413920723COL4A5c.470A>C (p.Glu157Ala)
c.146A>C (p.Glu49Ala)
c.485A>C (p.Glu162Ala)
Xg.108573578A>GCA413920725COL4A5c.470A>G (p.Glu157Gly)
c.146A>G (p.Glu49Gly)
c.485A>G (p.Glu162Gly)
Xg.108573578A>TCA413920728COL4A5c.470A>T (p.Glu157Val)
c.146A>T (p.Glu49Val)
c.485A>T (p.Glu162Val)
Xg.108573579A>CCA413920731COL4A5c.471A>C (p.Glu157Asp)
c.147A>C (p.Glu49Asp)
c.486A>C (p.Glu162Asp)
Xg.108573579A>GCA517991594COL4A5c.471A>G (p.Glu157=)
c.147A>G (p.Glu49=)
c.486A>G (p.Glu162=)
Xg.108573579A>TCA413920732COL4A5c.471A>T (p.Glu157Asp)
c.147A>T (p.Glu49Asp)
c.486A>T (p.Glu162Asp)
Xg.108573580C>ACA413920735COL4A5c.472C>A (p.Pro158Thr)
c.148C>A (p.Pro50Thr)
c.487C>A (p.Pro163Thr)
 gnomAD v4
Xg.108573580C>GCA413920738COL4A5c.472C>G (p.Pro158Ala)
c.148C>G (p.Pro50Ala)
c.487C>G (p.Pro163Ala)
Xg.108573580C>TCA413920740COL4A5c.472C>T (p.Pro158Ser)
c.148C>T (p.Pro50Ser)
c.487C>T (p.Pro163Ser)
Xg.108573581C>ACA413920748COL4A5c.473C>A (p.Pro158Gln)
c.149C>A (p.Pro50Gln)
c.488C>A (p.Pro163Gln)
Xg.108573581C>GCA413920743COL4A5c.473C>G (p.Pro158Arg)
c.149C>G (p.Pro50Arg)
c.488C>G (p.Pro163Arg)
 gnomAD v4
Xg.108573581C>TCA413920744COL4A5c.473C>T (p.Pro158Leu)
c.149C>T (p.Pro50Leu)
c.488C>T (p.Pro163Leu)
Xg.108573582A>CCA517991595COL4A5c.474A>C (p.Pro158=)
c.150A>C (p.Pro50=)
c.489A>C (p.Pro163=)
Xg.108573582A>GCA517991596COL4A5c.474A>G (p.Pro158=)
c.150A>G (p.Pro50=)
c.489A>G (p.Pro163=)
 gnomAD v4
Xg.108573582A>TCA517991597COL4A5c.474A>T (p.Pro158=)
c.150A>T (p.Pro50=)
c.489A>T (p.Pro163=)
Xg.108573582_108573583delinsAGCA2450680714COL4A5c.474_475delinsAG (p.Pro158=)
c.150_151delinsAG (p.Pro50=)
c.489_490delinsAG (p.Pro163=)
Xg.108573583G>ACA413920752COL4A5c.475G>A (p.Gly159Ser)
c.151G>A (p.Gly51Ser)
c.490G>A (p.Gly164Ser)
 gnomAD v4
Xg.108573583G>CCA413920754COL4A5c.475G>C (p.Gly159Arg)
c.151G>C (p.Gly51Arg)
c.490G>C (p.Gly164Arg)
Xg.108573583G>TCA413920756COL4A5c.475G>T (p.Gly159Cys)
c.151G>T (p.Gly51Cys)
c.490G>T (p.Gly164Cys)
Xg.108573584delCA261042COL4A5c.476del (p.Gly159ValfsTer3)
c.152del (p.Gly51ValfsTer3)
c.491del (p.Gly164ValfsTer3)
 dbSNP
Xg.108573583_108573585delinsGGTCA2450680715COL4A5c.475_477delinsGGT (p.Gly159=)
c.151_153delinsGGT (p.Gly51=)
c.490_492delinsGGT (p.Gly164=)
Xg.108573584G>ACA413920761COL4A5c.476G>A (p.Gly159Asp)
c.152G>A (p.Gly51Asp)
c.491G>A (p.Gly164Asp)
 ClinVar dbSNP
Xg.108573584G>CCA413920763COL4A5c.476G>C (p.Gly159Ala)
c.152G>C (p.Gly51Ala)
c.491G>C (p.Gly164Ala)
Xg.108573584G>TCA413920766COL4A5c.476G>T (p.Gly159Val)
c.152G>T (p.Gly51Val)
c.491G>T (p.Gly164Val)
 ClinVar
Xg.108573584_108573585delCA2450680716COL4A5c.476_477del (p.Gly159GlufsTer13)
c.152_153del (p.Gly51GlufsTer13)
c.491_492del (p.Gly164GlufsTer13)
 dbSNP
Xg.108573585T>ACA517991599COL4A5c.477T>A (p.Gly159=)
c.153T>A (p.Gly51=)
c.492T>A (p.Gly164=)
Xg.108573585T>CCA517991598COL4A5c.477T>C (p.Gly159=)
c.153T>C (p.Gly51=)
c.492T>C (p.Gly164=)
Xg.108573585T>GCA517991600COL4A5c.477T>G (p.Gly159=)
c.153T>G (p.Gly51=)
c.492T>G (p.Gly164=)
Xg.108573586A>CCA413920770COL4A5c.478A>C (p.Ser160Arg)
c.154A>C (p.Ser52Arg)
c.493A>C (p.Ser165Arg)
Xg.108573586A>GCA413920773COL4A5c.478A>G (p.Ser160Gly)
c.154A>G (p.Ser52Gly)
c.493A>G (p.Ser165Gly)
Xg.108573586A>TCA413920775COL4A5c.478A>T (p.Ser160Cys)
c.154A>T (p.Ser52Cys)
c.493A>T (p.Ser165Cys)
Xg.108573586_108573588delinsAGTCA2450680717COL4A5c.478_480delinsAGT (p.Ser160=)
c.154_156delinsAGT (p.Ser52=)
c.493_495delinsAGT (p.Ser165=)
Xg.108573587G>ACA334179514COL4A5c.479G>A (p.Ser160Asn)
c.155G>A (p.Ser52Asn)
c.494G>A (p.Ser165Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573587G>CCA413920780COL4A5c.479G>C (p.Ser160Thr)
c.155G>C (p.Ser52Thr)
c.494G>C (p.Ser165Thr)
 gnomAD v4
Xg.108573587G=CA2450680719COL4A5c.479G= (p.Ser160=)
c.155G= (p.Ser52=)
c.494G= (p.Ser165=)
Xg.108573587G>TCA413920777COL4A5c.479G>T (p.Ser160Ile)
c.155G>T (p.Ser52Ile)
c.494G>T (p.Ser165Ile)
Xg.108573587_108573588delCA2450680718COL4A5c.479_480del (p.Ser160AsnfsTer12)
c.155_156del (p.Ser52AsnfsTer12)
c.494_495del (p.Ser165AsnfsTer12)
 dbSNP
Xg.108573588T>ACA413920783COL4A5c.480T>A (p.Ser160Arg)
c.156T>A (p.Ser52Arg)
c.495T>A (p.Ser165Arg)
Xg.108573588T>CCA517991601COL4A5c.480T>C (p.Ser160=)
c.156T>C (p.Ser52=)
c.495T>C (p.Ser165=)
 gnomAD v4
Xg.108573588T>GCA413920785COL4A5c.480T>G (p.Ser160Arg)
c.156T>G (p.Ser52Arg)
c.495T>G (p.Ser165Arg)
Xg.108573589A=CA2450680720COL4A5c.481A= (p.Ile161=)
c.157A= (p.Ile53=)
c.496A= (p.Ile166=)
Xg.108573589A>CCA413920788COL4A5c.481A>C (p.Ile161Leu)
c.157A>C (p.Ile53Leu)
c.496A>C (p.Ile166Leu)
Xg.108573589A>GCA413920790COL4A5c.481A>G (p.Ile161Val)
c.157A>G (p.Ile53Val)
c.496A>G (p.Ile166Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573589A>TCA413920792COL4A5c.481A>T (p.Ile161Leu)
c.157A>T (p.Ile53Leu)
c.496A>T (p.Ile166Leu)
Xg.108573590T>ACA413920794COL4A5c.482T>A (p.Ile161Lys)
c.158T>A (p.Ile53Lys)
c.497T>A (p.Ile166Lys)
Xg.108573590T>CCA413920796COL4A5c.482T>C (p.Ile161Thr)
c.158T>C (p.Ile53Thr)
c.497T>C (p.Ile166Thr)
Xg.108573590T>GCA413920798COL4A5c.482T>G (p.Ile161Arg)
c.158T>G (p.Ile53Arg)
c.497T>G (p.Ile166Arg)
Xg.108573591A>CCA517991602COL4A5c.483A>C (p.Ile161=)
c.159A>C (p.Ile53=)
c.498A>C (p.Ile166=)
Xg.108573591A>GCA413920800COL4A5c.483A>G (p.Ile161Met)
c.159A>G (p.Ile53Met)
c.498A>G (p.Ile166Met)
Xg.108573591A>TCA517991603COL4A5c.483A>T (p.Ile161=)
c.159A>T (p.Ile53=)
c.498A>T (p.Ile166=)
Xg.108573592A>CCA413920803COL4A5c.484A>C (p.Ile162Leu)
c.160A>C (p.Ile54Leu)
c.499A>C (p.Ile167Leu)
Xg.108573592A>GCA413920806COL4A5c.484A>G (p.Ile162Val)
c.160A>G (p.Ile54Val)
c.499A>G (p.Ile167Val)
Xg.108573592A>TCA413920807COL4A5c.484A>T (p.Ile162Phe)
c.160A>T (p.Ile54Phe)
c.499A>T (p.Ile167Phe)
Xg.108573593T>ACA413920814COL4A5c.485T>A (p.Ile162Asn)
c.161T>A (p.Ile54Asn)
c.500T>A (p.Ile167Asn)
Xg.108573593T>CCA413920810COL4A5c.485T>C (p.Ile162Thr)
c.161T>C (p.Ile54Thr)
c.500T>C (p.Ile167Thr)
Xg.108573593T>GCA413920812COL4A5c.485T>G (p.Ile162Ser)
c.161T>G (p.Ile54Ser)
c.500T>G (p.Ile167Ser)
Xg.108573594T>ACA517991604COL4A5c.486T>A (p.Ile162=)
c.162T>A (p.Ile54=)
c.501T>A (p.Ile167=)
Xg.108573594T>CCA517991605COL4A5c.486T>C (p.Ile162=)
c.162T>C (p.Ile54=)
c.501T>C (p.Ile167=)
Xg.108573594T>GCA413920817COL4A5c.486T>G (p.Ile162Met)
c.162T>G (p.Ile54Met)
c.501T>G (p.Ile167Met)
Xg.108573595A=CA2450680721COL4A5c.487A= (p.Met163=)
c.163A= (p.Met55=)
c.502A= (p.Met168=)
Xg.108573595A>CCA413920820COL4A5c.487A>C (p.Met163Leu)
c.163A>C (p.Met55Leu)
c.502A>C (p.Met168Leu)
Xg.108573595A>GCA413920823COL4A5c.487A>G (p.Met163Val)
c.163A>G (p.Met55Val)
c.502A>G (p.Met168Val)
 dbSNP COSMIC
Xg.108573595A>TCA413920825COL4A5c.487A>T (p.Met163Leu)
c.163A>T (p.Met55Leu)
c.502A>T (p.Met168Leu)
Xg.108573596T>ACA413920828COL4A5c.488T>A (p.Met163Lys)
c.164T>A (p.Met55Lys)
c.503T>A (p.Met168Lys)
Xg.108573596T>CCA10488477COL4A5c.488T>C (p.Met163Thr)
c.164T>C (p.Met55Thr)
c.503T>C (p.Met168Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573596T>GCA413920833COL4A5c.488T>G (p.Met163Arg)
c.164T>G (p.Met55Arg)
c.503T>G (p.Met168Arg)
Xg.108573596T=CA2450680722COL4A5c.488T= (p.Met163=)
c.164T= (p.Met55=)
c.503T= (p.Met168=)
Xg.108573597G>ACA413920836COL4A5c.489G>A (p.Met163Ile)
c.165G>A (p.Met55Ile)
c.504G>A (p.Met168Ile)
Xg.108573597G>CCA413920838COL4A5c.489G>C (p.Met163Ile)
c.165G>C (p.Met55Ile)
c.504G>C (p.Met168Ile)
Xg.108573597G>TCA413920840COL4A5c.489G>T (p.Met163Ile)
c.165G>T (p.Met55Ile)
c.504G>T (p.Met168Ile)
Xg.108573598T>ACA413920844COL4A5c.490T>A (p.Ser164Thr)
c.166T>A (p.Ser56Thr)
c.505T>A (p.Ser169Thr)
Xg.108573598T>CCA413920846COL4A5c.490T>C (p.Ser164Pro)
c.166T>C (p.Ser56Pro)
c.505T>C (p.Ser169Pro)
 gnomAD v4
Xg.108573598T>GCA413920848COL4A5c.490T>G (p.Ser164Ala)
c.166T>G (p.Ser56Ala)
c.505T>G (p.Ser169Ala)
Xg.108573599C>ACA413920852COL4A5c.491C>A (p.Ser164Ter)
c.167C>A (p.Ser56Ter)
c.506C>A (p.Ser169Ter)
 gnomAD v4
Xg.108573599C>GCA413920854COL4A5c.491C>G (p.Ser164Ter)
c.167C>G (p.Ser56Ter)
c.506C>G (p.Ser169Ter)
Xg.108573599C>TCA413920851COL4A5c.491C>T (p.Ser164Leu)
c.167C>T (p.Ser56Leu)
c.506C>T (p.Ser169Leu)
 gnomAD v4
Xg.108573600A=CA2450680723COL4A5c.492A= (p.Ser164=)
c.168A= (p.Ser56=)
c.507A= (p.Ser169=)
Xg.108573600A>CCA517991608COL4A5c.492A>C (p.Ser164=)
c.168A>C (p.Ser56=)
c.507A>C (p.Ser169=)
Xg.108573600A>GCA517991607COL4A5c.492A>G (p.Ser164=)
c.168A>G (p.Ser56=)
c.507A>G (p.Ser169=)
 dbSNP
Xg.108573600A>TCA517991606COL4A5c.492A>T (p.Ser164=)
c.168A>T (p.Ser56=)
c.507A>T (p.Ser169=)
Xg.108573601T>ACA413920860COL4A5c.493T>A (p.Ser165Thr)
c.169T>A (p.Ser57Thr)
c.508T>A (p.Ser170Thr)
Xg.108573601T>CCA10488478COL4A5c.493T>C (p.Ser165Pro)
c.169T>C (p.Ser57Pro)
c.508T>C (p.Ser170Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108573601T>GCA413920858COL4A5c.493T>G (p.Ser165Ala)
c.169T>G (p.Ser57Ala)
c.508T>G (p.Ser170Ala)
Xg.108573601T=CA2450680724COL4A5c.493T= (p.Ser165=)
c.169T= (p.Ser57=)
c.508T= (p.Ser170=)
Xg.108573602C>ACA413920863COL4A5c.494C>A (p.Ser165Ter)
c.170C>A (p.Ser57Ter)
c.509C>A (p.Ser170Ter)
 ClinVar dbSNP
Xg.108573602C=CA2450680726COL4A5c.494C= (p.Ser165=)
c.170C= (p.Ser57=)
c.509C= (p.Ser170=)
Xg.108573602C>GCA413920865COL4A5c.494C>G (p.Ser165Ter)
c.170C>G (p.Ser57Ter)
c.509C>G (p.Ser170Ter)
 ClinVar dbSNP
Xg.108573602C>TCA413920868COL4A5c.494C>T (p.Ser165Leu)
c.170C>T (p.Ser57Leu)
c.509C>T (p.Ser170Leu)
 gnomAD v4
Xg.108573603A>CCA517991609COL4A5c.495A>C (p.Ser165=)
c.171A>C (p.Ser57=)
c.510A>C (p.Ser170=)
Xg.108573603A>GCA517991610COL4A5c.495A>G (p.Ser165=)
c.171A>G (p.Ser57=)
c.510A>G (p.Ser170=)
Xg.108573603A>TCA517991611COL4A5c.495A>T (p.Ser165=)
c.171A>T (p.Ser57=)
c.510A>T (p.Ser170=)
Xg.108573604C>ACA413920870COL4A5c.496C>A (p.Leu166Met)
c.172C>A (p.Leu58Met)
c.511C>A (p.Leu171Met)
Xg.108573604C>GCA413920872COL4A5c.496C>G (p.Leu166Val)
c.172C>G (p.Leu58Val)
c.511C>G (p.Leu171Val)
Xg.108573604C>TCA517991612COL4A5c.496C>T (p.Leu166=)
c.172C>T (p.Leu58=)
c.511C>T (p.Leu171=)
 ClinVar
Xg.108573605T>ACA413920875COL4A5c.497T>A (p.Leu166Gln)
c.173T>A (p.Leu58Gln)
c.512T>A (p.Leu171Gln)
Xg.108573605T>CCA413920877COL4A5c.497T>C (p.Leu166Pro)
c.173T>C (p.Leu58Pro)
c.512T>C (p.Leu171Pro)
Xg.108573605T>GCA413920880COL4A5c.497T>G (p.Leu166Arg)
c.173T>G (p.Leu58Arg)
c.512T>G (p.Leu171Arg)
Xg.108573606G>ACA517991613COL4A5c.498G>A (p.Leu166=)
c.174G>A (p.Leu58=)
c.513G>A (p.Leu171=)
Xg.108573606G>CCA517991614COL4A5c.498G>C (p.Leu166=)
c.174G>C (p.Leu58=)
c.513G>C (p.Leu171=)
Xg.108573606G>TCA517991615COL4A5c.498G>T (p.Leu166=)
c.174G>T (p.Leu58=)
c.513G>T (p.Leu171=)
 gnomAD v4
Xg.108573607_108573620delCA2535902988COL4A5c.499_512del (p.Pro167Ter)
c.175_188del (p.Pro59Ter)
c.514_527del (p.Pro172Ter)
Xg.108573607C>ACA413920883COL4A5c.499C>A (p.Pro167Thr)
c.175C>A (p.Pro59Thr)
c.514C>A (p.Pro172Thr)
Xg.108573607C>GCA413920886COL4A5c.499C>G (p.Pro167Ala)
c.175C>G (p.Pro59Ala)
c.514C>G (p.Pro172Ala)
Xg.108573607C>TCA413920889COL4A5c.499C>T (p.Pro167Ser)
c.175C>T (p.Pro59Ser)
c.514C>T (p.Pro172Ser)
 COSMIC COSMIC
Xg.108573608delCA2695235179COL4A5c.500del (p.Pro167GlnfsTer?)
c.176del (p.Pro59GlnfsTer?)
c.515del (p.Pro172GlnfsTer?)
Xg.108573608C>ACA413920896COL4A5c.500C>A (p.Pro167Gln)
c.176C>A (p.Pro59Gln)
c.515C>A (p.Pro172Gln)
 dbSNP
Xg.108573608C=CA2450680727COL4A5c.500C= (p.Pro167=)
c.176C= (p.Pro59=)
c.515C= (p.Pro172=)
Xg.108573608C>GCA413920892COL4A5c.500C>G (p.Pro167Arg)
c.176C>G (p.Pro59Arg)
c.515C>G (p.Pro172Arg)
Xg.108573608C>TCA413920893COL4A5c.500C>T (p.Pro167Leu)
c.176C>T (p.Pro59Leu)
c.515C>T (p.Pro172Leu)
Xg.108573609A>CCA517991616COL4A5c.501A>C (p.Pro167=)
c.177A>C (p.Pro59=)
c.516A>C (p.Pro172=)
 ClinVar
Xg.108573609A>GCA517991617COL4A5c.501A>G (p.Pro167=)
c.177A>G (p.Pro59=)
c.516A>G (p.Pro172=)
 ClinVar gnomAD v4
Xg.108573609A>TCA517991618COL4A5c.501A>T (p.Pro167=)
c.177A>T (p.Pro59=)
c.516A>T (p.Pro172=)
Xg.108573610G>ACA413920899COL4A5c.502G>A (p.Gly168Arg)
c.178G>A (p.Gly60Arg)
c.517G>A (p.Gly173Arg)
 gnomAD v4 COSMIC COSMIC
Xg.108573610G>CCA413920903COL4A5c.502G>C (p.Gly168Arg)
c.178G>C (p.Gly60Arg)
c.517G>C (p.Gly173Arg)
Xg.108573610G>TCA413920904COL4A5c.502G>T (p.Gly168Ter)
c.178G>T (p.Gly60Ter)
c.517G>T (p.Gly173Ter)
Xg.108573611G>ACA413920907COL4A5c.503G>A (p.Gly168Glu)
c.179G>A (p.Gly60Glu)
c.518G>A (p.Gly173Glu)
Xg.108573611G>CCA413920909COL4A5c.503G>C (p.Gly168Ala)
c.179G>C (p.Gly60Ala)
c.518G>C (p.Gly173Ala)
Xg.108573611G>TCA413920911COL4A5c.503G>T (p.Gly168Val)
c.179G>T (p.Gly60Val)
c.518G>T (p.Gly173Val)
Xg.108573612A>CCA517991619COL4A5c.504A>C (p.Gly168=)
c.180A>C (p.Gly60=)
c.519A>C (p.Gly173=)
Xg.108573612A>GCA517991620COL4A5c.504A>G (p.Gly168=)
c.180A>G (p.Gly60=)
c.519A>G (p.Gly173=)
Xg.108573612A>TCA517991621COL4A5c.504A>T (p.Gly168=)
c.180A>T (p.Gly60=)
c.519A>T (p.Gly173=)
 gnomAD v4
Xg.108573613C>ACA413920912COL4A5c.505C>A (p.Pro169Thr)
c.181C>A (p.Pro61Thr)
c.520C>A (p.Pro174Thr)
Xg.108573613C>GCA413920915COL4A5c.505C>G (p.Pro169Ala)
c.181C>G (p.Pro61Ala)
c.520C>G (p.Pro174Ala)
Xg.108573613C>TCA413920917COL4A5c.505C>T (p.Pro169Ser)
c.181C>T (p.Pro61Ser)
c.520C>T (p.Pro174Ser)
 COSMIC COSMIC
Xg.108573614C>ACA413920920COL4A5c.506C>A (p.Pro169Gln)
c.182C>A (p.Pro61Gln)
c.521C>A (p.Pro174Gln)
 gnomAD v4
Xg.108573614C>GCA413920921COL4A5c.506C>G (p.Pro169Arg)
c.182C>G (p.Pro61Arg)
c.521C>G (p.Pro174Arg)
Xg.108573614C>TCA413920924COL4A5c.506C>T (p.Pro169Leu)
c.182C>T (p.Pro61Leu)
c.521C>T (p.Pro174Leu)
Xg.108573615A>CCA517991622COL4A5c.507A>C (p.Pro169=)
c.183A>C (p.Pro61=)
c.522A>C (p.Pro174=)
Xg.108573615A>GCA517991623COL4A5c.507A>G (p.Pro169=)
c.183A>G (p.Pro61=)
c.522A>G (p.Pro174=)
Xg.108573615A>TCA517991624COL4A5c.507A>T (p.Pro169=)
c.183A>T (p.Pro61=)
c.522A>T (p.Pro174=)
Xg.108573617delCA2579675876COL4A5c.509del (p.Lys170ArgfsTer?)
c.185del (p.Lys62ArgfsTer?)
c.524del (p.Lys175ArgfsTer?)
Xg.108573616A>CCA413920932COL4A5c.508A>C (p.Lys170Gln)
c.184A>C (p.Lys62Gln)
c.523A>C (p.Lys175Gln)
Xg.108573616A>GCA413920929COL4A5c.508A>G (p.Lys170Glu)
c.184A>G (p.Lys62Glu)
c.523A>G (p.Lys175Glu)
Xg.108573616A>TCA413920928COL4A5c.508A>T (p.Lys170Ter)
c.184A>T (p.Lys62Ter)
c.523A>T (p.Lys175Ter)
Xg.108573617A>CCA413920935COL4A5c.509A>C (p.Lys170Thr)
c.185A>C (p.Lys62Thr)
c.524A>C (p.Lys175Thr)
Xg.108573617A>GCA413920937COL4A5c.509A>G (p.Lys170Arg)
c.185A>G (p.Lys62Arg)
c.524A>G (p.Lys175Arg)
Xg.108573617A>TCA413920939COL4A5c.509A>T (p.Lys170Met)
c.185A>T (p.Lys62Met)
c.524A>T (p.Lys175Met)
Xg.108573618G>ACA517991625COL4A5c.510G>A (p.Lys170=)
c.186G>A (p.Lys62=)
c.525G>A (p.Lys175=)
Xg.108573618G>CCA413920943COL4A5c.510G>C (p.Lys170Asn)
c.186G>C (p.Lys62Asn)
c.525G>C (p.Lys175Asn)
Xg.108573618G>TCA413920945COL4A5c.510G>T (p.Lys170Asn)
c.186G>T (p.Lys62Asn)
c.525G>T (p.Lys175Asn)
Xg.108573619G>ACA413920954COL4A5c.511G>A (p.Gly171Ser)
c.187G>A (p.Gly63Ser)
c.526G>A (p.Gly176Ser)
 ClinVar dbSNP
Xg.108573619G>CCA413920951COL4A5c.511G>C (p.Gly171Arg)
c.187G>C (p.Gly63Arg)
c.526G>C (p.Gly176Arg)
 ClinVar dbSNP gnomAD v4
Xg.108573619G=CA2450680728COL4A5c.511G= (p.Gly171=)
c.187G= (p.Gly63=)
c.526G= (p.Gly176=)
Xg.108573619G>TCA413920949COL4A5c.511G>T (p.Gly171Cys)
c.187G>T (p.Gly63Cys)
c.526G>T (p.Gly176Cys)
 ClinVar
Xg.108573620G>ACA413920956COL4A5c.512G>A (p.Gly171Asp)
c.188G>A (p.Gly63Asp)
c.527G>A (p.Gly176Asp)
Xg.108573620G>CCA413920959COL4A5c.512G>C (p.Gly171Ala)
c.188G>C (p.Gly63Ala)
c.527G>C (p.Gly176Ala)
Xg.108573620G>TCA413920962COL4A5c.512G>T (p.Gly171Val)
c.188G>T (p.Gly63Val)
c.527G>T (p.Gly176Val)
Xg.108573621T>ACA517991628COL4A5c.513T>A (p.Gly171=)
c.189T>A (p.Gly63=)
c.528T>A (p.Gly176=)
Xg.108573621T>CCA517991627COL4A5c.513T>C (p.Gly171=)
c.189T>C (p.Gly63=)
c.528T>C (p.Gly176=)
Xg.108573621T>GCA517991626COL4A5c.513T>G (p.Gly171=)
c.189T>G (p.Gly63=)
c.528T>G (p.Gly176=)
Xg.108573622A>CCA413920963COL4A5c.514A>C (p.Asn172His)
c.190A>C (p.Asn64His)
c.529A>C (p.Asn177His)
Xg.108573622A>GCA413920966COL4A5c.514A>G (p.Asn172Asp)
c.190A>G (p.Asn64Asp)
c.529A>G (p.Asn177Asp)
 gnomAD v4
Xg.108573622A>TCA413920968COL4A5c.514A>T (p.Asn172Tyr)
c.190A>T (p.Asn64Tyr)
c.529A>T (p.Asn177Tyr)
Xg.108573623delCA2580100246COL4A5c.515del (p.Asn172IlefsTer?)
c.191del (p.Asn64IlefsTer?)
c.530del (p.Asn177IlefsTer?)
 ClinVar
Xg.108573623A>CCA413920972COL4A5c.515A>C (p.Asn172Thr)
c.191A>C (p.Asn64Thr)
c.530A>C (p.Asn177Thr)
Xg.108573623A>GCA413920974COL4A5c.515A>G (p.Asn172Ser)
c.191A>G (p.Asn64Ser)
c.530A>G (p.Asn177Ser)
Xg.108573623A>TCA413920973COL4A5c.515A>T (p.Asn172Ile)
c.191A>T (p.Asn64Ile)
c.530A>T (p.Asn177Ile)
Xg.108573623_108573640delCA2531530036COL4A5c.515_532del (p.Asn172_Pro178delinsThr)
c.191_208del (p.Asn64_Pro70delinsThr)
c.530_547del (p.Asn177_Pro183delinsThr)
Xg.108573624T>ACA413920977COL4A5c.516T>A (p.Asn172Lys)
c.192T>A (p.Asn64Lys)
c.531T>A (p.Asn177Lys)
Xg.108573624T>CCA517991629COL4A5c.516T>C (p.Asn172=)
c.192T>C (p.Asn64=)
c.531T>C (p.Asn177=)
Xg.108573624T>GCA413920980COL4A5c.516T>G (p.Asn172Lys)
c.192T>G (p.Asn64Lys)
c.531T>G (p.Asn177Lys)
Xg.108573625C>ACA413920983COL4A5c.517C>A (p.Pro173Thr)
c.193C>A (p.Pro65Thr)
c.532C>A (p.Pro178Thr)
Xg.108573625C>GCA413920984COL4A5c.517C>G (p.Pro173Ala)
c.193C>G (p.Pro65Ala)
c.532C>G (p.Pro178Ala)
Xg.108573625C>TCA413920986COL4A5c.517C>T (p.Pro173Ser)
c.193C>T (p.Pro65Ser)
c.532C>T (p.Pro178Ser)

Number of alleles fetched