Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108577889delCA2579675925COL4A5c.610-63del (n.610-63del)
c.286-63del (n.286-63del)
c.625-63del (n.625-63del)
 gnomAD v4
Xg.108577889A=CA2450682142COL4A5c.610-63A= (n.610-63A=)
c.286-63A= (n.286-63A=)
c.625-63A= (n.625-63A=)
Xg.108577889A>GCA1136179028COL4A5c.610-63A>G (n.610-63A>G)
c.286-63A>G (n.286-63A>G)
c.625-63A>G (n.625-63A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108577889A>TCA2694411943COL4A5c.610-63A>T (n.610-63A>T)
c.286-63A>T (n.286-63A>T)
c.625-63A>T (n.625-63A>T)
 gnomAD v4
Xg.108577890T>CCA2694411944COL4A5c.610-62T>C (n.610-62T>C)
c.286-62T>C (n.286-62T>C)
c.625-62T>C (n.625-62T>C)
 gnomAD v4
Xg.108577891A=CA2450682143COL4A5c.610-61A= (n.610-61A=)
c.286-61A= (n.286-61A=)
c.625-61A= (n.625-61A=)
Xg.108577891A>TCA2450682144COL4A5c.610-61A>T (n.610-61A>T)
c.286-61A>T (n.286-61A>T)
c.625-61A>T (n.625-61A>T)
 dbSNP gnomAD v4
Xg.108577893C>ACA2694411946COL4A5c.610-59C>A (n.610-59C>A)
c.286-59C>A (n.286-59C>A)
c.625-59C>A (n.625-59C>A)
 gnomAD v4
Xg.108577893C=CA2450682145COL4A5c.610-59C= (n.610-59C=)
c.286-59C= (n.286-59C=)
c.625-59C= (n.625-59C=)
Xg.108577893C>TCA1136179030COL4A5c.610-59C>T (n.610-59C>T)
c.286-59C>T (n.286-59C>T)
c.625-59C>T (n.625-59C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108577896T>ACA2450682147COL4A5c.610-56T>A (n.610-56T>A)
c.286-56T>A (n.286-56T>A)
c.625-56T>A (n.625-56T>A)
 dbSNP
Xg.108577896T=CA2450682146COL4A5c.610-56T= (n.610-56T=)
c.286-56T= (n.286-56T=)
c.625-56T= (n.625-56T=)
Xg.108577898A>TCA2579675926COL4A5c.610-54A>T (n.610-54A>T)
c.286-54A>T (n.286-54A>T)
c.625-54A>T (n.625-54A>T)
 gnomAD v4
Xg.108577899A>TCA2694411947COL4A5c.610-53A>T (n.610-53A>T)
c.286-53A>T (n.286-53A>T)
c.625-53A>T (n.625-53A>T)
 gnomAD v4
Xg.108577901A=CA2450682148COL4A5c.610-51A= (n.610-51A=)
c.286-51A= (n.286-51A=)
c.625-51A= (n.625-51A=)
Xg.108577901A>GCA643749894COL4A5c.610-51A>G (n.610-51A>G)
c.286-51A>G (n.286-51A>G)
c.625-51A>G (n.625-51A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108577902T>CCA2694411948COL4A5c.610-50T>C (n.610-50T>C)
c.286-50T>C (n.286-50T>C)
c.625-50T>C (n.625-50T>C)
 gnomAD v4
Xg.108577904A>GCA2552672569COL4A5c.610-48A>G (n.610-48A>G)
c.286-48A>G (n.286-48A>G)
c.625-48A>G (n.625-48A>G)
Xg.108577904A>TCA2579675927COL4A5c.610-48A>T (n.610-48A>T)
c.286-48A>T (n.286-48A>T)
c.625-48A>T (n.625-48A>T)
Xg.108577905A=CA2450682149COL4A5c.610-47A= (n.610-47A=)
c.286-47A= (n.286-47A=)
c.625-47A= (n.625-47A=)
Xg.108577905A>CCA10488523COL4A5c.610-47A>C (n.610-47A>C)
c.286-47A>C (n.286-47A>C)
c.625-47A>C (n.625-47A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108577905A>GCA2694411949COL4A5c.610-47A>G (n.610-47A>G)
c.286-47A>G (n.286-47A>G)
c.625-47A>G (n.625-47A>G)
 gnomAD v4
Xg.108577906C>ACA2694411951COL4A5c.610-46C>A (n.610-46C>A)
c.286-46C>A (n.286-46C>A)
c.625-46C>A (n.625-46C>A)
 gnomAD v4
Xg.108577906C=CA2450682150COL4A5c.610-46C= (n.610-46C=)
c.286-46C= (n.286-46C=)
c.625-46C= (n.625-46C=)
Xg.108577906C>TCA643749896COL4A5c.610-46C>T (n.610-46C>T)
c.286-46C>T (n.286-46C>T)
c.625-46C>T (n.625-46C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108577907T>CCA2694411952COL4A5c.610-45T>C (n.610-45T>C)
c.286-45T>C (n.286-45T>C)
c.625-45T>C (n.625-45T>C)
 gnomAD v4
Xg.108577908T>CCA2694411953COL4A5c.610-44T>C (n.610-44T>C)
c.286-44T>C (n.286-44T>C)
c.625-44T>C (n.625-44T>C)
 gnomAD v4
Xg.108577909A>GCA2694411954COL4A5c.610-43A>G (n.610-43A>G)
c.286-43A>G (n.286-43A>G)
c.625-43A>G (n.625-43A>G)
 gnomAD v4
Xg.108577909A>TCA2694411955COL4A5c.610-43A>T (n.610-43A>T)
c.286-43A>T (n.286-43A>T)
c.625-43A>T (n.625-43A>T)
 gnomAD v4
Xg.108577910T>ACA2694411957COL4A5c.610-42T>A (n.610-42T>A)
c.286-42T>A (n.286-42T>A)
c.625-42T>A (n.625-42T>A)
 gnomAD v4
Xg.108577910T>CCA10488524COL4A5c.610-42T>C (n.610-42T>C)
c.286-42T>C (n.286-42T>C)
c.625-42T>C (n.625-42T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108577910T>GCA869820404COL4A5c.610-42T>G (n.610-42T>G)
c.286-42T>G (n.286-42T>G)
c.625-42T>G (n.625-42T>G)
 dbSNP gnomAD v4
Xg.108577910T=CA2450682151COL4A5c.610-42T= (n.610-42T=)
c.286-42T= (n.286-42T=)
c.625-42T= (n.625-42T=)
Xg.108577911T>ACA2579675928COL4A5c.610-41T>A (n.610-41T>A)
c.286-41T>A (n.286-41T>A)
c.625-41T>A (n.625-41T>A)
Xg.108577912A>TCA2694411958COL4A5c.610-40A>T (n.610-40A>T)
c.286-40A>T (n.286-40A>T)
c.625-40A>T (n.625-40A>T)
 gnomAD v4
Xg.108577913A>GCA2694411960COL4A5c.610-39A>G (n.610-39A>G)
c.286-39A>G (n.286-39A>G)
c.625-39A>G (n.625-39A>G)
 gnomAD v4
Xg.108577914T>CCA869820405COL4A5c.610-38T>C (n.610-38T>C)
c.286-38T>C (n.286-38T>C)
c.625-38T>C (n.625-38T>C)
 dbSNP gnomAD v4
Xg.108577914T=CA2450682152COL4A5c.610-38T= (n.610-38T=)
c.286-38T= (n.286-38T=)
c.625-38T= (n.625-38T=)
Xg.108577915A>GCA2694411961COL4A5c.610-37A>G (n.610-37A>G)
c.286-37A>G (n.286-37A>G)
c.625-37A>G (n.625-37A>G)
 gnomAD v4
Xg.108577915A>TCA2822894543COL4A5c.610-37A>T (n.610-37A>T)
c.286-37A>T (n.286-37A>T)
c.625-37A>T (n.625-37A>T)
Xg.108577916T>CCA2694411962COL4A5c.610-36T>C (n.610-36T>C)
c.286-36T>C (n.286-36T>C)
c.625-36T>C (n.625-36T>C)
 gnomAD v4
Xg.108577917A>GCA2694411963COL4A5c.610-35A>G (n.610-35A>G)
c.286-35A>G (n.286-35A>G)
c.625-35A>G (n.625-35A>G)
 gnomAD v4
Xg.108577918A=CA2450682153COL4A5c.610-34A= (n.610-34A=)
c.286-34A= (n.286-34A=)
c.625-34A= (n.625-34A=)
Xg.108577918A>TCA10488525COL4A5c.610-34A>T (n.610-34A>T)
c.286-34A>T (n.286-34A>T)
c.625-34A>T (n.625-34A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108577919C>ACA2694411967COL4A5c.610-33C>A (n.610-33C>A)
c.286-33C>A (n.286-33C>A)
c.625-33C>A (n.625-33C>A)
 gnomAD v4
Xg.108577919C=CA2450682154COL4A5c.610-33C= (n.610-33C=)
c.286-33C= (n.286-33C=)
c.625-33C= (n.625-33C=)
Xg.108577919C>TCA10488526COL4A5c.610-33C>T (n.610-33C>T)
c.286-33C>T (n.286-33C>T)
c.625-33C>T (n.625-33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108577920A=CA2450682155COL4A5c.610-32A= (n.610-32A=)
c.286-32A= (n.286-32A=)
c.625-32A= (n.625-32A=)
Xg.108577920A>GCA1136179031COL4A5c.610-32A>G (n.610-32A>G)
c.286-32A>G (n.286-32A>G)
c.625-32A>G (n.625-32A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108577920_108577921delinsATCA2450682156COL4A5c.610-32_610-31delinsAT (n.610-32_610-31delinsAT)
c.286-32_286-31delinsAT (n.286-32_286-31delinsAT)
c.625-32_625-31delinsAT (n.625-32_625-31delinsAT)
Xg.108577921T>CCA2694411968COL4A5c.610-31T>C (n.610-31T>C)
c.286-31T>C (n.286-31T>C)
c.625-31T>C (n.625-31T>C)
 gnomAD v4
Xg.108577921T>GCA2694411969COL4A5c.610-31T>G (n.610-31T>G)
c.286-31T>G (n.286-31T>G)
c.625-31T>G (n.625-31T>G)
 gnomAD v4
Xg.108577924delCA2450682157COL4A5c.610-28del (n.610-28del)
c.286-28del (n.286-28del)
c.625-28del (n.625-28del)
 dbSNP
Xg.108577923T>CCA2694411971COL4A5c.610-29T>C (n.610-29T>C)
c.286-29T>C (n.286-29T>C)
c.625-29T>C (n.625-29T>C)
 gnomAD v4
Xg.108577924T>CCA2694411972COL4A5c.610-28T>C (n.610-28T>C)
c.286-28T>C (n.286-28T>C)
c.625-28T>C (n.625-28T>C)
 gnomAD v4
Xg.108577925A>GCA2694411973COL4A5c.610-27A>G (n.610-27A>G)
c.286-27A>G (n.286-27A>G)
c.625-27A>G (n.625-27A>G)
 gnomAD v4
Xg.108577927T>CCA2694411975COL4A5c.610-25T>C (n.610-25T>C)
c.286-25T>C (n.286-25T>C)
c.625-25T>C (n.625-25T>C)
 gnomAD v4
Xg.108577929T>CCA2694411977COL4A5c.610-23T>C (n.610-23T>C)
c.286-23T>C (n.286-23T>C)
c.625-23T>C (n.625-23T>C)
 gnomAD v4
Xg.108577932_108577933delCA2694411976COL4A5c.610-20_610-19del (n.610-20_610-19del)
c.286-20_286-19del (n.286-20_286-19del)
c.625-20_625-19del (n.625-20_625-19del)
 gnomAD v4
Xg.108577930C>ACA2526702145COL4A5c.610-22C>A (n.610-22C>A)
c.286-22C>A (n.286-22C>A)
c.625-22C>A (n.625-22C>A)
 gnomAD v4
Xg.108577931T>CCA2579675929COL4A5c.610-21T>C (n.610-21T>C)
c.286-21T>C (n.286-21T>C)
c.625-21T>C (n.625-21T>C)
Xg.108577932C>ACA2694411978COL4A5c.610-20C>A (n.610-20C>A)
c.286-20C>A (n.286-20C>A)
c.625-20C>A (n.625-20C>A)
 gnomAD v4
Xg.108577932C=CA2450682158COL4A5c.610-20C= (n.610-20C=)
c.286-20C= (n.286-20C=)
c.625-20C= (n.625-20C=)
Xg.108577932C>GCA2450682159COL4A5c.610-20C>G (n.610-20C>G)
c.286-20C>G (n.286-20C>G)
c.625-20C>G (n.625-20C>G)
 dbSNP
Xg.108577933T>CCA1136179032COL4A5c.610-19T>C (n.610-19T>C)
c.286-19T>C (n.286-19T>C)
c.625-19T>C (n.625-19T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108577933T=CA2450682160COL4A5c.610-19T= (n.610-19T=)
c.286-19T= (n.286-19T=)
c.625-19T= (n.625-19T=)
Xg.108577936delCA2694411980COL4A5c.610-16del (n.610-16del)
c.286-16del (n.286-16del)
c.625-16del (n.625-16del)
 gnomAD v4
Xg.108577934T>CCA2694411984COL4A5c.610-18T>C (n.610-18T>C)
c.286-18T>C (n.286-18T>C)
c.625-18T>C (n.625-18T>C)
 gnomAD v4
Xg.108577934T>GCA2694411982COL4A5c.610-18T>G (n.610-18T>G)
c.286-18T>G (n.286-18T>G)
c.625-18T>G (n.625-18T>G)
 gnomAD v4
Xg.108577936T>CCA643749900COL4A5c.610-16T>C (n.610-16T>C)
c.286-16T>C (n.286-16T>C)
c.625-16T>C (n.625-16T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108577936T=CA2450682161COL4A5c.610-16T= (n.610-16T=)
c.286-16T= (n.286-16T=)
c.625-16T= (n.625-16T=)
Xg.108577937G>ACA2694411987COL4A5c.610-15G>A (n.610-15G>A)
c.286-15G>A (n.286-15G>A)
c.625-15G>A (n.625-15G>A)
 gnomAD v4
Xg.108577938T>CCA2694411988COL4A5c.610-14T>C (n.610-14T>C)
c.286-14T>C (n.286-14T>C)
c.625-14T>C (n.625-14T>C)
 gnomAD v4
Xg.108577939C>ACA2694411990COL4A5c.610-13C>A (n.610-13C>A)
c.286-13C>A (n.286-13C>A)
c.625-13C>A (n.625-13C>A)
 gnomAD v4
Xg.108577939C=CA2450682162COL4A5c.610-13C= (n.610-13C=)
c.286-13C= (n.286-13C=)
c.625-13C= (n.625-13C=)
Xg.108577939C>TCA334180191COL4A5c.610-13C>T (n.610-13C>T)
c.286-13C>T (n.286-13C>T)
c.625-13C>T (n.625-13C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108577941T>CCA2694411992COL4A5c.610-11T>C (n.610-11T>C)
c.286-11T>C (n.286-11T>C)
c.625-11T>C (n.625-11T>C)
 gnomAD v4
Xg.108577944C>TCA2822894549COL4A5c.610-8C>T (n.610-8C>T)
c.286-8C>T (n.286-8C>T)
c.625-8C>T (n.625-8C>T)
Xg.108577947C=CA2450682163COL4A5c.610-5C= (n.610-5C=)
c.286-5C= (n.286-5C=)
c.625-5C= (n.625-5C=)
Xg.108577947C>TCA10488527COL4A5c.610-5C>T (n.610-5C>T)
c.286-5C>T (n.286-5C>T)
c.625-5C>T (n.625-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108577949T>CCA643749902COL4A5c.610-3T>C (n.610-3T>C)
c.286-3T>C (n.286-3T>C)
c.625-3T>C (n.625-3T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108577949T=CA2450682165COL4A5c.610-3T= (n.610-3T=)
c.286-3T= (n.286-3T=)
c.625-3T= (n.625-3T=)
Xg.108577949_108577968delinsTAGGGCCCTCCTGGTCCACCCA2450682164COL4A5c.610-3_626delinsTAGGGCCCTCCTGGTCCACC
c.286-3_302delinsTAGGGCCCTCCTGGTCCACC
c.625-3_641delinsTAGGGCCCTCCTGGTCCACC
Xg.108577950delCA2579675930COL4A5c.610-2del (n.610-2del)
c.286-2del (n.286-2del)
c.625-2del (n.625-2del)
Xg.108577950A=CA2450682166COL4A5c.610-2A= (n.610-2A=)
c.286-2A= (n.286-2A=)
c.625-2A= (n.625-2A=)
Xg.108577950A>CCA413922907COL4A5c.610-2A>C (n.610-2A>C)
c.286-2A>C (n.286-2A>C)
c.625-2A>C (n.625-2A>C)
Xg.108577950A>GCA258287COL4A5c.610-2A>G (n.610-2A>G)
c.286-2A>G (n.286-2A>G)
c.625-2A>G (n.625-2A>G)
 dbSNP gnomAD v4
Xg.108577950A>TCA413922909COL4A5c.610-2A>T (n.610-2A>T)
c.286-2A>T (n.286-2A>T)
c.625-2A>T (n.625-2A>T)
Xg.108577953_108577971delCA258288COL4A5c.611_629del
c.287_305del
c.626_644del
 dbSNP
Xg.108577951G>ACA413922921COL4A5c.610-1G>A (n.610-1G>A)
c.286-1G>A (n.286-1G>A)
c.625-1G>A (n.625-1G>A)
Xg.108577951G>CCA413922926COL4A5c.610-1G>C (n.610-1G>C)
c.286-1G>C (n.286-1G>C)
c.625-1G>C (n.625-1G>C)
Xg.108577951G>TCA413922941COL4A5c.610-1G>T (n.610-1G>T)
c.286-1G>T (n.286-1G>T)
c.625-1G>T (n.625-1G>T)
 gnomAD v4
Xg.108577952G>ACA413922945COL4A5c.610G>A (p.Gly204Ser)
c.286G>A (p.Gly96Ser)
c.625G>A (p.Gly209Ser)
Xg.108577952G>CCA413922947COL4A5c.610G>C (p.Gly204Arg)
c.286G>C (p.Gly96Arg)
c.625G>C (p.Gly209Arg)
Xg.108577952G>TCA413922946COL4A5c.610G>T (p.Gly204Cys)
c.286G>T (p.Gly96Cys)
c.625G>T (p.Gly209Cys)
Xg.108577952_108577954delinsGGCCA2450682167COL4A5c.610_612delinsGGC (p.Gly204=)
c.286_288delinsGGC (p.Gly96=)
c.625_627delinsGGC (p.Gly209=)
Xg.108577953G>ACA258289COL4A5c.611G>A (p.Gly204Asp)
c.287G>A (p.Gly96Asp)
c.626G>A (p.Gly209Asp)
 ClinVar dbSNP
Xg.108577953G>CCA413922952COL4A5c.611G>C (p.Gly204Ala)
c.287G>C (p.Gly96Ala)
c.626G>C (p.Gly209Ala)
Xg.108577953G=CA2450682168COL4A5c.611G= (p.Gly204=)
c.287G= (p.Gly96=)
c.626G= (p.Gly209=)
Xg.108577953G>TCA258292COL4A5c.611G>T (p.Gly204Val)
c.287G>T (p.Gly96Val)
c.626G>T (p.Gly209Val)
 dbSNP
Xg.108577953_108577954delCA258294COL4A5c.611_612del (p.Gly204AlafsTer11)
c.287_288del (p.Gly96AlafsTer11)
c.626_627del (p.Gly209AlafsTer11)
 ClinVar dbSNP
Xg.108577954C>ACA517991713COL4A5c.612C>A (p.Gly204=)
c.288C>A (p.Gly96=)
c.627C>A (p.Gly209=)
 gnomAD v4
Xg.108577954C>GCA517991714COL4A5c.612C>G (p.Gly204=)
c.288C>G (p.Gly96=)
c.627C>G (p.Gly209=)
Xg.108577954C>TCA517991715COL4A5c.612C>T (p.Gly204=)
c.288C>T (p.Gly96=)
c.627C>T (p.Gly209=)
 ClinVar dbSNP
Xg.108577955C>ACA413922967COL4A5c.613C>A (p.Pro205Thr)
c.289C>A (p.Pro97Thr)
c.628C>A (p.Pro210Thr)
 gnomAD v4
Xg.108577955C=CA2450682169COL4A5c.613C= (p.Pro205=)
c.289C= (p.Pro97=)
c.628C= (p.Pro210=)
Xg.108577955C>GCA413922970COL4A5c.613C>G (p.Pro205Ala)
c.289C>G (p.Pro97Ala)
c.628C>G (p.Pro210Ala)
Xg.108577955C>TCA413922974COL4A5c.613C>T (p.Pro205Ser)
c.289C>T (p.Pro97Ser)
c.628C>T (p.Pro210Ser)
 dbSNP gnomAD v4
Xg.108577956C>ACA413922978COL4A5c.614C>A (p.Pro205His)
c.290C>A (p.Pro97His)
c.629C>A (p.Pro210His)
 gnomAD v4
Xg.108577956C=CA2450682170COL4A5c.614C= (p.Pro205=)
c.290C= (p.Pro97=)
c.629C= (p.Pro210=)
Xg.108577956C>GCA413922979COL4A5c.614C>G (p.Pro205Arg)
c.290C>G (p.Pro97Arg)
c.629C>G (p.Pro210Arg)
 dbSNP
Xg.108577956C>TCA413922980COL4A5c.614C>T (p.Pro205Leu)
c.290C>T (p.Pro97Leu)
c.629C>T (p.Pro210Leu)
 gnomAD v4
Xg.108577957T>ACA517991716COL4A5c.615T>A (p.Pro205=)
c.291T>A (p.Pro97=)
c.630T>A (p.Pro210=)
Xg.108577957T>CCA517991718COL4A5c.615T>C (p.Pro205=)
c.291T>C (p.Pro97=)
c.630T>C (p.Pro210=)
 gnomAD v4
Xg.108577957T>GCA517991717COL4A5c.615T>G (p.Pro205=)
c.291T>G (p.Pro97=)
c.630T>G (p.Pro210=)
 gnomAD v4
Xg.108577958C>ACA413922985COL4A5c.616C>A (p.Pro206Thr)
c.292C>A (p.Pro98Thr)
c.631C>A (p.Pro211Thr)
Xg.108577958C>GCA413922987COL4A5c.616C>G (p.Pro206Ala)
c.292C>G (p.Pro98Ala)
c.631C>G (p.Pro211Ala)
Xg.108577958C>TCA413922982COL4A5c.616C>T (p.Pro206Ser)
c.292C>T (p.Pro98Ser)
c.631C>T (p.Pro211Ser)
Xg.108577959C>ACA413922994COL4A5c.617C>A (p.Pro206His)
c.293C>A (p.Pro98His)
c.632C>A (p.Pro211His)
Xg.108577959C>GCA413923005COL4A5c.617C>G (p.Pro206Arg)
c.293C>G (p.Pro98Arg)
c.632C>G (p.Pro211Arg)
Xg.108577959C>TCA413923002COL4A5c.617C>T (p.Pro206Leu)
c.293C>T (p.Pro98Leu)
c.632C>T (p.Pro211Leu)
Xg.108577960T>ACA517991719COL4A5c.618T>A (p.Pro206=)
c.294T>A (p.Pro98=)
c.633T>A (p.Pro211=)
Xg.108577960T>CCA517991720COL4A5c.618T>C (p.Pro206=)
c.294T>C (p.Pro98=)
c.633T>C (p.Pro211=)
 ClinVar
Xg.108577960T>GCA517991721COL4A5c.618T>G (p.Pro206=)
c.294T>G (p.Pro98=)
c.633T>G (p.Pro211=)
Xg.108577961G>ACA413923010COL4A5c.619G>A (p.Gly207Ser)
c.295G>A (p.Gly99Ser)
c.634G>A (p.Gly212Ser)
 ClinVar dbSNP
Xg.108577961G>CCA413923015COL4A5c.619G>C (p.Gly207Arg)
c.295G>C (p.Gly99Arg)
c.634G>C (p.Gly212Arg)
 ClinVar dbSNP
Xg.108577961G=CA2450682171COL4A5c.619G= (p.Gly207=)
c.295G= (p.Gly99=)
c.634G= (p.Gly212=)
Xg.108577961G>TCA413923012COL4A5c.619G>T (p.Gly207Cys)
c.295G>T (p.Gly99Cys)
c.634G>T (p.Gly212Cys)
Xg.108577962delCA2579675931COL4A5c.620del (p.Gly207ValfsTer14)
c.296del (p.Gly99ValfsTer14)
c.635del (p.Gly212ValfsTer14)
 gnomAD v4
Xg.108577962G>ACA413923023COL4A5c.620G>A (p.Gly207Asp)
c.296G>A (p.Gly99Asp)
c.635G>A (p.Gly212Asp)
 gnomAD v4
Xg.108577962G>CCA413923033COL4A5c.620G>C (p.Gly207Ala)
c.296G>C (p.Gly99Ala)
c.635G>C (p.Gly212Ala)
Xg.108577962G>TCA413923036COL4A5c.620G>T (p.Gly207Val)
c.296G>T (p.Gly99Val)
c.635G>T (p.Gly212Val)
 ClinVar gnomAD v4
Xg.108577963T>ACA517991722COL4A5c.621T>A (p.Gly207=)
c.297T>A (p.Gly99=)
c.636T>A (p.Gly212=)
Xg.108577963T>CCA517991723COL4A5c.621T>C (p.Gly207=)
c.297T>C (p.Gly99=)
c.636T>C (p.Gly212=)
Xg.108577963T>GCA517991724COL4A5c.621T>G (p.Gly207=)
c.297T>G (p.Gly99=)
c.636T>G (p.Gly212=)
Xg.108577964C>ACA413923039COL4A5c.622C>A (p.Pro208Thr)
c.298C>A (p.Pro100Thr)
c.637C>A (p.Pro213Thr)
Xg.108577964C=CA2450682172COL4A5c.622C= (p.Pro208=)
c.298C= (p.Pro100=)
c.637C= (p.Pro213=)
Xg.108577964C>GCA413923044COL4A5c.622C>G (p.Pro208Ala)
c.298C>G (p.Pro100Ala)
c.637C>G (p.Pro213Ala)
Xg.108577964C>TCA413923053COL4A5c.622C>T (p.Pro208Ser)
c.298C>T (p.Pro100Ser)
c.637C>T (p.Pro213Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.108577965C>ACA413923056COL4A5c.623C>A (p.Pro208Gln)
c.299C>A (p.Pro100Gln)
c.638C>A (p.Pro213Gln)
Xg.108577965C=CA2450682173COL4A5c.623C= (p.Pro208=)
c.299C= (p.Pro100=)
c.638C= (p.Pro213=)
Xg.108577965C>GCA413923057COL4A5c.623C>G (p.Pro208Arg)
c.299C>G (p.Pro100Arg)
c.638C>G (p.Pro213Arg)
Xg.108577965C>TCA413923059COL4A5c.623C>T (p.Pro208Leu)
c.299C>T (p.Pro100Leu)
c.638C>T (p.Pro213Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108577966A>CCA517991725COL4A5c.624A>C (p.Pro208=)
c.300A>C (p.Pro100=)
c.639A>C (p.Pro213=)
Xg.108577966A>GCA517991726COL4A5c.624A>G (p.Pro208=)
c.300A>G (p.Pro100=)
c.639A>G (p.Pro213=)
Xg.108577966A>TCA517991727COL4A5c.624A>T (p.Pro208=)
c.300A>T (p.Pro100=)
c.639A>T (p.Pro213=)
Xg.108577967C>ACA413923062COL4A5c.625C>A (p.Pro209Thr)
c.301C>A (p.Pro101Thr)
c.640C>A (p.Pro214Thr)
 dbSNP
Xg.108577967C=CA2450682174COL4A5c.625C= (p.Pro209=)
c.301C= (p.Pro101=)
c.640C= (p.Pro214=)
Xg.108577967C>GCA413923063COL4A5c.625C>G (p.Pro209Ala)
c.301C>G (p.Pro101Ala)
c.640C>G (p.Pro214Ala)
 dbSNP
Xg.108577967C>TCA413923067COL4A5c.625C>T (p.Pro209Ser)
c.301C>T (p.Pro101Ser)
c.640C>T (p.Pro214Ser)
Xg.108577968C>ACA413923083COL4A5c.626C>A (p.Pro209Gln)
c.302C>A (p.Pro101Gln)
c.641C>A (p.Pro214Gln)
Xg.108577968C>GCA413923097COL4A5c.626C>G (p.Pro209Arg)
c.302C>G (p.Pro101Arg)
c.641C>G (p.Pro214Arg)
Xg.108577968C>TCA413923093COL4A5c.626C>T (p.Pro209Leu)
c.302C>T (p.Pro101Leu)
c.641C>T (p.Pro214Leu)
 gnomAD v4
Xg.108577969A>CCA517991728COL4A5c.627A>C (p.Pro209=)
c.303A>C (p.Pro101=)
c.642A>C (p.Pro214=)
Xg.108577969A>GCA517991729COL4A5c.627A>G (p.Pro209=)
c.303A>G (p.Pro101=)
c.642A>G (p.Pro214=)
 gnomAD v4
Xg.108577969A>TCA517991730COL4A5c.627A>T (p.Pro209=)
c.303A>T (p.Pro101=)
c.642A>T (p.Pro214=)
Xg.108577970G>ACA413923113COL4A5c.628G>A (p.Gly210Arg)
c.304G>A (p.Gly102Arg)
c.643G>A (p.Gly215Arg)
Xg.108577970G>CCA413923116COL4A5c.628G>C (p.Gly210Arg)
c.304G>C (p.Gly102Arg)
c.643G>C (p.Gly215Arg)
Xg.108577970G>TCA413923119COL4A5c.628G>T (p.Gly210Ter)
c.304G>T (p.Gly102Ter)
c.643G>T (p.Gly215Ter)
 COSMIC COSMIC
Xg.108577971G>ACA413923124COL4A5c.629G>A (p.Gly210Glu)
c.305G>A (p.Gly102Glu)
c.644G>A (p.Gly215Glu)
 ClinVar dbSNP
Xg.108577971G>CCA413923128COL4A5c.629G>C (p.Gly210Ala)
c.305G>C (p.Gly102Ala)
c.644G>C (p.Gly215Ala)
Xg.108577971G>TCA413923138COL4A5c.629G>T (p.Gly210Val)
c.305G>T (p.Gly102Val)
c.644G>T (p.Gly215Val)
Xg.108577972A>CCA517991731COL4A5c.630A>C (p.Gly210=)
c.306A>C (p.Gly102=)
c.645A>C (p.Gly215=)
Xg.108577972A>GCA517991732COL4A5c.630A>G (p.Gly210=)
c.306A>G (p.Gly102=)
c.645A>G (p.Gly215=)
Xg.108577972A>TCA517991733COL4A5c.630A>T (p.Gly210=)
c.306A>T (p.Gly102=)
c.645A>T (p.Gly215=)
Xg.108577973C>ACA413923157COL4A5c.631C>A (p.Leu211Ile)
c.307C>A (p.Leu103Ile)
c.646C>A (p.Leu216Ile)
Xg.108577973C>GCA413923172COL4A5c.631C>G (p.Leu211Val)
c.307C>G (p.Leu103Val)
c.646C>G (p.Leu216Val)
Xg.108577973C>TCA413923174COL4A5c.631C>T (p.Leu211Phe)
c.307C>T (p.Leu103Phe)
c.646C>T (p.Leu216Phe)
Xg.108577974T>ACA413923186COL4A5c.632T>A (p.Leu211His)
c.308T>A (p.Leu103His)
c.647T>A (p.Leu216His)
Xg.108577974T>CCA413923189COL4A5c.632T>C (p.Leu211Pro)
c.308T>C (p.Leu103Pro)
c.647T>C (p.Leu216Pro)
 gnomAD v4
Xg.108577974T>GCA413923182COL4A5c.632T>G (p.Leu211Arg)
c.308T>G (p.Leu103Arg)
c.647T>G (p.Leu216Arg)
Xg.108577975T>ACA517991734COL4A5c.633T>A (p.Leu211=)
c.309T>A (p.Leu103=)
c.648T>A (p.Leu216=)
Xg.108577975T>CCA517991735COL4A5c.633T>C (p.Leu211=)
c.309T>C (p.Leu103=)
c.648T>C (p.Leu216=)
Xg.108577975T>GCA517991736COL4A5c.633T>G (p.Leu211=)
c.309T>G (p.Leu103=)
c.648T>G (p.Leu216=)
Xg.108577975_108577976delinsTCCA2450682175COL4A5c.633_634delinsTC (p.Leu211=)
c.309_310delinsTC (p.Leu103=)
c.648_649delinsTC (p.Leu216=)
Xg.108577976C>ACA413923195COL4A5c.634C>A (p.Pro212Thr)
c.310C>A (p.Pro104Thr)
c.649C>A (p.Pro217Thr)
Xg.108577976C>GCA413923202COL4A5c.634C>G (p.Pro212Ala)
c.310C>G (p.Pro104Ala)
c.649C>G (p.Pro217Ala)
Xg.108577976C>TCA413923207COL4A5c.634C>T (p.Pro212Ser)
c.310C>T (p.Pro104Ser)
c.649C>T (p.Pro217Ser)
Xg.108577977delCA258295COL4A5c.635del (p.Pro212GlnfsTer9)
c.311del (p.Pro104GlnfsTer9)
c.650del (p.Pro217GlnfsTer9)
 ClinVar dbSNP
Xg.108577976_108577978delCA2695235186COL4A5c.634_636del (p.Pro212del)
c.310_312del (p.Pro104del)
c.649_651del (p.Pro217del)
Xg.108577977C>ACA413923215COL4A5c.635C>A (p.Pro212Gln)
c.311C>A (p.Pro104Gln)
c.650C>A (p.Pro217Gln)
Xg.108577977C>GCA413923210COL4A5c.635C>G (p.Pro212Arg)
c.311C>G (p.Pro104Arg)
c.650C>G (p.Pro217Arg)
Xg.108577977C>TCA413923209COL4A5c.635C>T (p.Pro212Leu)
c.311C>T (p.Pro104Leu)
c.650C>T (p.Pro217Leu)
Xg.108577978A>CCA517991737COL4A5c.636A>C (p.Pro212=)
c.312A>C (p.Pro104=)
c.651A>C (p.Pro217=)
Xg.108577978A>GCA517991739COL4A5c.636A>G (p.Pro212=)
c.312A>G (p.Pro104=)
c.651A>G (p.Pro217=)
Xg.108577978A>TCA517991738COL4A5c.636A>T (p.Pro212=)
c.312A>T (p.Pro104=)
c.651A>T (p.Pro217=)
Xg.108577979G>ACA334180201COL4A5c.637G>A (p.Gly213Arg)
c.313G>A (p.Gly105Arg)
c.652G>A (p.Gly218Arg)
 dbSNP
Xg.108577979G>CCA413923223COL4A5c.637G>C (p.Gly213Arg)
c.313G>C (p.Gly105Arg)
c.652G>C (p.Gly218Arg)
 ClinVar dbSNP
Xg.108577979G=CA2450682176COL4A5c.637G= (p.Gly213=)
c.313G= (p.Gly105=)
c.652G= (p.Gly218=)
Xg.108577979G>TCA413923227COL4A5c.637G>T (p.Gly213Ter)
c.313G>T (p.Gly105Ter)
c.652G>T (p.Gly218Ter)
Xg.108577980G>ACA258296COL4A5c.638G>A (p.Gly213Glu)
c.314G>A (p.Gly105Glu)
c.653G>A (p.Gly218Glu)
 ClinVar dbSNP
Xg.108577980G>CCA413923234COL4A5c.638G>C (p.Gly213Ala)
c.314G>C (p.Gly105Ala)
c.653G>C (p.Gly218Ala)
Xg.108577980G=CA2450682177COL4A5c.638G= (p.Gly213=)
c.314G= (p.Gly105=)
c.653G= (p.Gly218=)
Xg.108577980G>TCA413923235COL4A5c.638G>T (p.Gly213Val)
c.314G>T (p.Gly105Val)
c.653G>T (p.Gly218Val)
 ClinVar dbSNP
Xg.108577981A>CCA517991740COL4A5c.639A>C (p.Gly213=)
c.315A>C (p.Gly105=)
c.654A>C (p.Gly218=)
Xg.108577981A>GCA517991741COL4A5c.639A>G (p.Gly213=)
c.315A>G (p.Gly105=)
c.654A>G (p.Gly218=)
 ClinVar dbSNP gnomAD v4
Xg.108577981A>TCA517991742COL4A5c.639A>T (p.Gly213=)
c.315A>T (p.Gly105=)
c.654A>T (p.Gly218=)
 COSMIC COSMIC
Xg.108577982C>ACA413923241COL4A5c.640C>A (p.Pro214Thr)
c.316C>A (p.Pro106Thr)
c.655C>A (p.Pro219Thr)
Xg.108577982C>GCA413923245COL4A5c.640C>G (p.Pro214Ala)
c.316C>G (p.Pro106Ala)
c.655C>G (p.Pro219Ala)
Xg.108577982C>TCA413923243COL4A5c.640C>T (p.Pro214Ser)
c.316C>T (p.Pro106Ser)
c.655C>T (p.Pro219Ser)
Xg.108577983C>ACA413923250COL4A5c.641C>A (p.Pro214His)
c.317C>A (p.Pro106His)
c.656C>A (p.Pro219His)
Xg.108577983C>GCA413923252COL4A5c.641C>G (p.Pro214Arg)
c.317C>G (p.Pro106Arg)
c.656C>G (p.Pro219Arg)
Xg.108577983C>TCA413923257COL4A5c.641C>T (p.Pro214Leu)
c.317C>T (p.Pro106Leu)
c.656C>T (p.Pro219Leu)
Xg.108577984T>ACA517991743COL4A5c.642T>A (p.Pro214=)
c.318T>A (p.Pro106=)
c.657T>A (p.Pro219=)
Xg.108577984T>CCA517991744COL4A5c.642T>C (p.Pro214=)
c.318T>C (p.Pro106=)
c.657T>C (p.Pro219=)
 gnomAD v4
Xg.108577984T>GCA517991745COL4A5c.642T>G (p.Pro214=)
c.318T>G (p.Pro106=)
c.657T>G (p.Pro219=)
Xg.108577985A>CCA413923263COL4A5c.643A>C (p.Lys215Gln)
c.319A>C (p.Lys107Gln)
c.658A>C (p.Lys220Gln)
Xg.108577985A>GCA413923273COL4A5c.643A>G (p.Lys215Glu)
c.319A>G (p.Lys107Glu)
c.658A>G (p.Lys220Glu)
Xg.108577985A>TCA413923277COL4A5c.643A>T (p.Lys215Ter)
c.319A>T (p.Lys107Ter)
c.658A>T (p.Lys220Ter)
 ClinVar
Xg.108577986A>CCA413923278COL4A5c.644A>C (p.Lys215Thr)
c.320A>C (p.Lys107Thr)
c.659A>C (p.Lys220Thr)
Xg.108577986A>GCA413923283COL4A5c.644A>G (p.Lys215Arg)
c.320A>G (p.Lys107Arg)
c.659A>G (p.Lys220Arg)
Xg.108577986A>TCA413923286COL4A5c.644A>T (p.Lys215Met)
c.320A>T (p.Lys107Met)
c.659A>T (p.Lys220Met)
Xg.108577987G>ACA10488528COL4A5c.645G>A (p.Lys215=)
c.321G>A (p.Lys107=)
c.660G>A (p.Lys220=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108577987G>CCA413923289COL4A5c.645G>C (p.Lys215Asn)
c.321G>C (p.Lys107Asn)
c.660G>C (p.Lys220Asn)
Xg.108577987G=CA2450682178COL4A5c.645G= (p.Lys215=)
c.321G= (p.Lys107=)
c.660G= (p.Lys220=)
Xg.108577987G>TCA413923290COL4A5c.645G>T (p.Lys215Asn)
c.321G>T (p.Lys107Asn)
c.660G>T (p.Lys220Asn)

Number of alleles fetched