Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108571365T>CCA2694439539COL4A5c.385-48T>C (n.385-48T>C)
c.61-48T>C (n.61-48T>C)
c.400-48T>C (n.400-48T>C)
 gnomAD v4
Xg.108571365T>GCA2694439540COL4A5c.385-48T>G (n.385-48T>G)
c.61-48T>G (n.61-48T>G)
c.400-48T>G (n.400-48T>G)
 gnomAD v4
Xg.108571366T>ACA2450680081COL4A5c.385-47T>A (n.385-47T>A)
c.61-47T>A (n.61-47T>A)
c.400-47T>A (n.400-47T>A)
 dbSNP gnomAD v4
Xg.108571366T=CA2450680082COL4A5c.385-47T= (n.385-47T=)
c.61-47T= (n.61-47T=)
c.400-47T= (n.400-47T=)
Xg.108571367C>ACA2579675817COL4A5c.385-46C>A (n.385-46C>A)
c.61-46C>A (n.61-46C>A)
c.400-46C>A (n.400-46C>A)
 gnomAD v4
Xg.108571367C=CA2450680084COL4A5c.385-46C= (n.385-46C=)
c.61-46C= (n.61-46C=)
c.400-46C= (n.400-46C=)
Xg.108571367C>TCA2450680083COL4A5c.385-46C>T (n.385-46C>T)
c.61-46C>T (n.61-46C>T)
c.400-46C>T (n.400-46C>T)
 dbSNP gnomAD v4
Xg.108571369T>ACA643749419COL4A5c.385-44T>A (n.385-44T>A)
c.61-44T>A (n.61-44T>A)
c.400-44T>A (n.400-44T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571369T>GCA10488443COL4A5c.385-44T>G (n.385-44T>G)
c.61-44T>G (n.61-44T>G)
c.400-44T>G (n.400-44T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108571369T=CA2450680085COL4A5c.385-44T= (n.385-44T=)
c.61-44T= (n.61-44T=)
c.400-44T= (n.400-44T=)
Xg.108571370T>GCA2694439541COL4A5c.385-43T>G (n.385-43T>G)
c.61-43T>G (n.61-43T>G)
c.400-43T>G (n.400-43T>G)
 gnomAD v4
Xg.108571371G>ACA2694439542COL4A5c.385-42G>A (n.385-42G>A)
c.61-42G>A (n.61-42G>A)
c.400-42G>A (n.400-42G>A)
 gnomAD v4
Xg.108571371G>CCA643749420COL4A5c.385-42G>C (n.385-42G>C)
c.61-42G>C (n.61-42G>C)
c.400-42G>C (n.400-42G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571371G=CA2450680086COL4A5c.385-42G= (n.385-42G=)
c.61-42G= (n.61-42G=)
c.400-42G= (n.400-42G=)
Xg.108571372T>ACA2450680088COL4A5c.385-41T>A (n.385-41T>A)
c.61-41T>A (n.61-41T>A)
c.400-41T>A (n.400-41T>A)
 dbSNP
Xg.108571372T>CCA10488444COL4A5c.385-41T>C (n.385-41T>C)
c.61-41T>C (n.61-41T>C)
c.400-41T>C (n.400-41T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108571372T=CA2450680087COL4A5c.385-41T= (n.385-41T=)
c.61-41T= (n.61-41T=)
c.400-41T= (n.400-41T=)
Xg.108571373T>CCA2694439543COL4A5c.385-40T>C (n.385-40T>C)
c.61-40T>C (n.61-40T>C)
c.400-40T>C (n.400-40T>C)
 gnomAD v4
Xg.108571373T>GCA2694439544COL4A5c.385-40T>G (n.385-40T>G)
c.61-40T>G (n.61-40T>G)
c.400-40T>G (n.400-40T>G)
 gnomAD v4
Xg.108571374T>CCA2694439545COL4A5c.385-39T>C (n.385-39T>C)
c.61-39T>C (n.61-39T>C)
c.400-39T>C (n.400-39T>C)
 gnomAD v4
Xg.108571375C>ACA2694439546COL4A5c.385-38C>A (n.385-38C>A)
c.61-38C>A (n.61-38C>A)
c.400-38C>A (n.400-38C>A)
 gnomAD v4
Xg.108571376T>CCA2694439547COL4A5c.385-37T>C (n.385-37T>C)
c.61-37T>C (n.61-37T>C)
c.400-37T>C (n.400-37T>C)
 gnomAD v4
Xg.108571377T>ACA869820068COL4A5c.385-36T>A (n.385-36T>A)
c.61-36T>A (n.61-36T>A)
c.400-36T>A (n.400-36T>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108571377T=CA2450680089COL4A5c.385-36T= (n.385-36T=)
c.61-36T= (n.61-36T=)
c.400-36T= (n.400-36T=)
Xg.108571378G>ACA2694439548COL4A5c.385-35G>A (n.385-35G>A)
c.61-35G>A (n.61-35G>A)
c.400-35G>A (n.400-35G>A)
 gnomAD v4
Xg.108571378G>CCA2694439550COL4A5c.385-35G>C (n.385-35G>C)
c.61-35G>C (n.61-35G>C)
c.400-35G>C (n.400-35G>C)
 gnomAD v4
Xg.108571378G>TCA2694439549COL4A5c.385-35G>T (n.385-35G>T)
c.61-35G>T (n.61-35G>T)
c.400-35G>T (n.400-35G>T)
 gnomAD v4
Xg.108571379T>CCA2450680091COL4A5c.385-34T>C (n.385-34T>C)
c.61-34T>C (n.61-34T>C)
c.400-34T>C (n.400-34T>C)
 dbSNP gnomAD v4
Xg.108571379T>GCA2694439551COL4A5c.385-34T>G (n.385-34T>G)
c.61-34T>G (n.61-34T>G)
c.400-34T>G (n.400-34T>G)
 gnomAD v4
Xg.108571379T=CA2450680090COL4A5c.385-34T= (n.385-34T=)
c.61-34T= (n.61-34T=)
c.400-34T= (n.400-34T=)
Xg.108571380T>ACA2694439552COL4A5c.385-33T>A (n.385-33T>A)
c.61-33T>A (n.61-33T>A)
c.400-33T>A (n.400-33T>A)
 gnomAD v4
Xg.108571380T>CCA2694439553COL4A5c.385-33T>C (n.385-33T>C)
c.61-33T>C (n.61-33T>C)
c.400-33T>C (n.400-33T>C)
 gnomAD v4
Xg.108571381C>ACA2579675818COL4A5c.385-32C>A (n.385-32C>A)
c.61-32C>A (n.61-32C>A)
c.400-32C>A (n.400-32C>A)
 gnomAD v4
Xg.108571381C>TCA2694439554COL4A5c.385-32C>T (n.385-32C>T)
c.61-32C>T (n.61-32C>T)
c.400-32C>T (n.400-32C>T)
 gnomAD v4
Xg.108571382C>ACA2694439555COL4A5c.385-31C>A (n.385-31C>A)
c.61-31C>A (n.61-31C>A)
c.400-31C>A (n.400-31C>A)
 gnomAD v4
Xg.108571382C=CA2450680092COL4A5c.385-31C= (n.385-31C=)
c.61-31C= (n.61-31C=)
c.400-31C= (n.400-31C=)
Xg.108571382C>TCA10488445COL4A5c.385-31C>T (n.385-31C>T)
c.61-31C>T (n.61-31C>T)
c.400-31C>T (n.400-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108571383T>CCA334179172COL4A5c.385-30T>C (n.385-30T>C)
c.61-30T>C (n.61-30T>C)
c.400-30T>C (n.400-30T>C)
 dbSNP gnomAD v4
Xg.108571383T=CA2450680093COL4A5c.385-30T= (n.385-30T=)
c.61-30T= (n.61-30T=)
c.400-30T= (n.400-30T=)
Xg.108571384C>ACA2694439557COL4A5c.385-29C>A (n.385-29C>A)
c.61-29C>A (n.61-29C>A)
c.400-29C>A (n.400-29C>A)
 gnomAD v4
Xg.108571384C>TCA2694439558COL4A5c.385-29C>T (n.385-29C>T)
c.61-29C>T (n.61-29C>T)
c.400-29C>T (n.400-29C>T)
 gnomAD v4
Xg.108571385delCA2694439556COL4A5c.385-28del (n.385-28del)
c.61-28del (n.61-28del)
c.400-28del (n.400-28del)
 gnomAD v4
Xg.108571385C>ACA2541538020COL4A5c.385-28C>A (n.385-28C>A)
c.61-28C>A (n.61-28C>A)
c.400-28C>A (n.400-28C>A)
 gnomAD v4
Xg.108571385C>TCA2694439559COL4A5c.385-28C>T (n.385-28C>T)
c.61-28C>T (n.61-28C>T)
c.400-28C>T (n.400-28C>T)
 gnomAD v4
Xg.108571386A=CA2450680094COL4A5c.385-27A= (n.385-27A=)
c.61-27A= (n.61-27A=)
c.400-27A= (n.400-27A=)
Xg.108571386A>GCA10488446COL4A5c.385-27A>G (n.385-27A>G)
c.61-27A>G (n.61-27A>G)
c.400-27A>G (n.400-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571387T>CCA2450680096COL4A5c.385-26T>C (n.385-26T>C)
c.61-26T>C (n.61-26T>C)
c.400-26T>C (n.400-26T>C)
 dbSNP gnomAD v4
Xg.108571387T=CA2450680095COL4A5c.385-26T= (n.385-26T=)
c.61-26T= (n.61-26T=)
c.400-26T= (n.400-26T=)
Xg.108571388G>ACA2579675819COL4A5c.385-25G>A (n.385-25G>A)
c.61-25G>A (n.61-25G>A)
c.400-25G>A (n.400-25G>A)
 gnomAD v4
Xg.108571388G>TCA2694439560COL4A5c.385-25G>T (n.385-25G>T)
c.61-25G>T (n.61-25G>T)
c.400-25G>T (n.400-25G>T)
 gnomAD v4
Xg.108571389C>ACA2694439563COL4A5c.385-24C>A (n.385-24C>A)
c.61-24C>A (n.61-24C>A)
c.400-24C>A (n.400-24C>A)
 gnomAD v4
Xg.108571389C>GCA2694439561COL4A5c.385-24C>G (n.385-24C>G)
c.61-24C>G (n.61-24C>G)
c.400-24C>G (n.400-24C>G)
 gnomAD v4
Xg.108571389C>TCA2694439562COL4A5c.385-24C>T (n.385-24C>T)
c.61-24C>T (n.61-24C>T)
c.400-24C>T (n.400-24C>T)
 gnomAD v4
Xg.108571390T>CCA2694439564COL4A5c.385-23T>C (n.385-23T>C)
c.61-23T>C (n.61-23T>C)
c.400-23T>C (n.400-23T>C)
 gnomAD v4
Xg.108571391C=CA2450680097COL4A5c.385-22C= (n.385-22C=)
c.61-22C= (n.61-22C=)
c.400-22C= (n.400-22C=)
Xg.108571391C>TCA643749421COL4A5c.385-22C>T (n.385-22C>T)
c.61-22C>T (n.61-22C>T)
c.400-22C>T (n.400-22C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108571392T>ACA2694439565COL4A5c.385-21T>A (n.385-21T>A)
c.61-21T>A (n.61-21T>A)
c.400-21T>A (n.400-21T>A)
 gnomAD v4
Xg.108571393T>CCA2694439566COL4A5c.385-20T>C (n.385-20T>C)
c.61-20T>C (n.61-20T>C)
c.400-20T>C (n.400-20T>C)
 ClinVar gnomAD v4
Xg.108571394T>CCA2694439567COL4A5c.385-19T>C (n.385-19T>C)
c.61-19T>C (n.61-19T>C)
c.400-19T>C (n.400-19T>C)
 gnomAD v4
Xg.108571395A>GCA2694439568COL4A5c.385-18A>G (n.385-18A>G)
c.61-18A>G (n.61-18A>G)
c.400-18A>G (n.400-18A>G)
 gnomAD v4
Xg.108571397T>CCA2527419844COL4A5c.385-16T>C (n.385-16T>C)
c.61-16T>C (n.61-16T>C)
c.400-16T>C (n.400-16T>C)
 gnomAD v4
Xg.108571398T>CCA2694439569COL4A5c.385-15T>C (n.385-15T>C)
c.61-15T>C (n.61-15T>C)
c.400-15T>C (n.400-15T>C)
 gnomAD v4
Xg.108571399T>CCA2694439570COL4A5c.385-14T>C (n.385-14T>C)
c.61-14T>C (n.61-14T>C)
c.400-14T>C (n.400-14T>C)
 gnomAD v4
Xg.108571401A>GCA2694439572COL4A5c.385-12A>G (n.385-12A>G)
c.61-12A>G (n.61-12A>G)
c.400-12A>G (n.400-12A>G)
 gnomAD v4
Xg.108571401A>TCA2694439573COL4A5c.385-12A>T (n.385-12A>T)
c.61-12A>T (n.61-12A>T)
c.400-12A>T (n.400-12A>T)
 gnomAD v4
Xg.108571402delCA2694439571COL4A5c.385-11del (n.385-11del)
c.61-11del (n.61-11del)
c.400-11del (n.400-11del)
 gnomAD v4
Xg.108571402A>GCA2580100244COL4A5c.385-11A>G (n.385-11A>G)
c.61-11A>G (n.61-11A>G)
c.400-11A>G (n.400-11A>G)
 ClinVar gnomAD v4
Xg.108571402A>TCA2694439574COL4A5c.385-11A>T (n.385-11A>T)
c.61-11A>T (n.61-11A>T)
c.400-11A>T (n.400-11A>T)
 ClinVar gnomAD v4
Xg.108571403C>ACA2694439575COL4A5c.385-10C>A (n.385-10C>A)
c.61-10C>A (n.61-10C>A)
c.400-10C>A (n.400-10C>A)
 gnomAD v4
Xg.108571403C=CA2450680098COL4A5c.385-10C= (n.385-10C=)
c.61-10C= (n.61-10C=)
c.400-10C= (n.400-10C=)
Xg.108571403C>GCA2450680099COL4A5c.385-10C>G (n.385-10C>G)
c.61-10C>G (n.61-10C>G)
c.400-10C>G (n.400-10C>G)
 dbSNP
Xg.108571404T>CCA2694439576COL4A5c.385-9T>C (n.385-9T>C)
c.61-9T>C (n.61-9T>C)
c.400-9T>C (n.400-9T>C)
 gnomAD v4
Xg.108571406C>ACA2694439577COL4A5c.385-7C>A (n.385-7C>A)
c.61-7C>A (n.61-7C>A)
c.400-7C>A (n.400-7C>A)
 gnomAD v4
Xg.108571406C>TCA2580100245COL4A5c.385-7C>T (n.385-7C>T)
c.61-7C>T (n.61-7C>T)
c.400-7C>T (n.400-7C>T)
 ClinVar gnomAD v4
Xg.108571408_108571410delCA2579675820COL4A5c.385-5_385-3del (n.385-5_385-3del)
c.61-5_61-3del (n.61-5_61-3del)
c.400-5_400-3del (n.400-5_400-3del)
 gnomAD v4
Xg.108571407T>CCA2694439578COL4A5c.385-6T>C (n.385-6T>C)
c.61-6T>C (n.61-6T>C)
c.400-6T>C (n.400-6T>C)
 gnomAD v4
Xg.108571408T>CCA10488447COL4A5c.385-5T>C (n.385-5T>C)
c.61-5T>C (n.61-5T>C)
c.400-5T>C (n.400-5T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108571408T=CA2450680100COL4A5c.385-5T= (n.385-5T=)
c.61-5T= (n.61-5T=)
c.400-5T= (n.400-5T=)
Xg.108571409C>ACA2694439579COL4A5c.385-4C>A (n.385-4C>A)
c.61-4C>A (n.61-4C>A)
c.400-4C>A (n.400-4C>A)
 gnomAD v4
Xg.108571409C>TCA2694439580COL4A5c.385-4C>T (n.385-4C>T)
c.61-4C>T (n.61-4C>T)
c.400-4C>T (n.400-4C>T)
 gnomAD v4
Xg.108571410delCA2694439581COL4A5c.385-3del (n.385-3del)
c.61-3del (n.61-3del)
c.400-3del (n.400-3del)
 gnomAD v4
Xg.108571411A=CA2450680101COL4A5c.385-2A= (n.385-2A=)
c.61-2A= (n.61-2A=)
c.400-2A= (n.400-2A=)
Xg.108571411A>CCA413919703COL4A5c.385-2A>C (n.385-2A>C)
c.61-2A>C (n.61-2A>C)
c.400-2A>C (n.400-2A>C)
Xg.108571411A>GCA413919704COL4A5c.385-2A>G (n.385-2A>G)
c.61-2A>G (n.61-2A>G)
c.400-2A>G (n.400-2A>G)
 ClinVar dbSNP gnomAD v4
Xg.108571411A>TCA413919705COL4A5c.385-2A>T (n.385-2A>T)
c.61-2A>T (n.61-2A>T)
c.400-2A>T (n.400-2A>T)
 ClinVar dbSNP
Xg.108571412G>ACA413919706COL4A5c.385-1G>A (n.385-1G>A)
c.61-1G>A (n.61-1G>A)
c.400-1G>A (n.400-1G>A)
Xg.108571412G>CCA258231COL4A5c.385-1G>C (n.385-1G>C)
c.61-1G>C (n.61-1G>C)
c.400-1G>C (n.400-1G>C)
 dbSNP
Xg.108571412G=CA2450680102COL4A5c.385-1G= (n.385-1G=)
c.61-1G= (n.61-1G=)
c.400-1G= (n.400-1G=)
Xg.108571412G>TCA413919708COL4A5c.385-1G>T (n.385-1G>T)
c.61-1G>T (n.61-1G>T)
c.400-1G>T (n.400-1G>T)
Xg.108571414delCA2694439582COL4A5c.386del
c.62del
c.401del
 gnomAD v4
Xg.108571413G>ACA258232COL4A5c.385G>A (p.Gly129Arg)
c.61G>A (p.Gly21Arg)
c.400G>A (p.Gly134Arg)
 ClinVar dbSNP COSMIC COSMIC
Xg.108571413G>CCA413919724COL4A5c.385G>C (p.Gly129Arg)
c.61G>C (p.Gly21Arg)
c.400G>C (p.Gly134Arg)
Xg.108571413G=CA2450680103COL4A5c.385G= (p.Gly129=)
c.61G= (p.Gly21=)
c.400G= (p.Gly134=)
Xg.108571413G>TCA413919727COL4A5c.385G>T (p.Gly129Ter)
c.61G>T (p.Gly21Ter)
c.400G>T (p.Gly134Ter)
Xg.108571414G>ACA258235COL4A5c.386G>A (p.Gly129Glu)
c.62G>A (p.Gly21Glu)
c.401G>A (p.Gly134Glu)
 dbSNP COSMIC COSMIC
Xg.108571414G>CCA413919735COL4A5c.386G>C (p.Gly129Ala)
c.62G>C (p.Gly21Ala)
c.401G>C (p.Gly134Ala)
Xg.108571414G=CA2450680104COL4A5c.386G= (p.Gly129=)
c.62G= (p.Gly21=)
c.401G= (p.Gly134=)
Xg.108571414G>TCA258237COL4A5c.386G>T (p.Gly129Val)
c.62G>T (p.Gly21Val)
c.401G>T (p.Gly134Val)
 dbSNP
Xg.108571415A>CCA517991529COL4A5c.387A>C (p.Gly129=)
c.63A>C (p.Gly21=)
c.402A>C (p.Gly134=)
Xg.108571415A>GCA517991531COL4A5c.387A>G (p.Gly129=)
c.63A>G (p.Gly21=)
c.402A>G (p.Gly134=)
Xg.108571415A>TCA517991530COL4A5c.387A>T (p.Gly129=)
c.63A>T (p.Gly21=)
c.402A>T (p.Gly134=)
Xg.108571416G>ACA413919737COL4A5c.388G>A (p.Glu130Lys)
c.64G>A (p.Glu22Lys)
c.403G>A (p.Glu135Lys)
 dbSNP gnomAD v4
Xg.108571416G>CCA413919738COL4A5c.388G>C (p.Glu130Gln)
c.64G>C (p.Glu22Gln)
c.403G>C (p.Glu135Gln)
Xg.108571416G=CA2450680105COL4A5c.388G= (p.Glu130=)
c.64G= (p.Glu22=)
c.403G= (p.Glu135=)
Xg.108571416G>TCA258239COL4A5c.388G>T (p.Glu130Ter)
c.64G>T (p.Glu22Ter)
c.403G>T (p.Glu135Ter)
 dbSNP gnomAD v4
Xg.108571417A>CCA413919746COL4A5c.389A>C (p.Glu130Ala)
c.65A>C (p.Glu22Ala)
c.404A>C (p.Glu135Ala)
Xg.108571417A>GCA413919751COL4A5c.389A>G (p.Glu130Gly)
c.65A>G (p.Glu22Gly)
c.404A>G (p.Glu135Gly)
 gnomAD v4
Xg.108571417A>TCA413919753COL4A5c.389A>T (p.Glu130Val)
c.65A>T (p.Glu22Val)
c.404A>T (p.Glu135Val)
Xg.108571418A>CCA413919764COL4A5c.390A>C (p.Glu130Asp)
c.66A>C (p.Glu22Asp)
c.405A>C (p.Glu135Asp)
Xg.108571418A>GCA517991532COL4A5c.390A>G (p.Glu130=)
c.66A>G (p.Glu22=)
c.405A>G (p.Glu135=)
Xg.108571418A>TCA413919762COL4A5c.390A>T (p.Glu130Asp)
c.66A>T (p.Glu22Asp)
c.405A>T (p.Glu135Asp)
Xg.108571419C>ACA10488448COL4A5c.391C>A (p.Arg131Ser)
c.67C>A (p.Arg23Ser)
c.406C>A (p.Arg136Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108571419C=CA2450680106COL4A5c.391C= (p.Arg131=)
c.67C= (p.Arg23=)
c.406C= (p.Arg136=)
Xg.108571419C>GCA413919766COL4A5c.391C>G (p.Arg131Gly)
c.67C>G (p.Arg23Gly)
c.406C>G (p.Arg136Gly)
Xg.108571419C>TCA413919769COL4A5c.391C>T (p.Arg131Cys)
c.67C>T (p.Arg23Cys)
c.406C>T (p.Arg136Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571420G>ACA10488449COL4A5c.392G>A (p.Arg131His)
c.68G>A (p.Arg23His)
c.407G>A (p.Arg136His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108571420G>CCA413919781COL4A5c.392G>C (p.Arg131Pro)
c.68G>C (p.Arg23Pro)
c.407G>C (p.Arg136Pro)
Xg.108571420G=CA2450680107COL4A5c.392G= (p.Arg131=)
c.68G= (p.Arg23=)
c.407G= (p.Arg136=)
Xg.108571420G>TCA413919782COL4A5c.392G>T (p.Arg131Leu)
c.68G>T (p.Arg23Leu)
c.407G>T (p.Arg136Leu)
 gnomAD v4
Xg.108571421T>ACA517991533COL4A5c.393T>A (p.Arg131=)
c.69T>A (p.Arg23=)
c.408T>A (p.Arg136=)
Xg.108571421T>CCA517991535COL4A5c.393T>C (p.Arg131=)
c.69T>C (p.Arg23=)
c.408T>C (p.Arg136=)
Xg.108571421T>GCA517991534COL4A5c.393T>G (p.Arg131=)
c.69T>G (p.Arg23=)
c.408T>G (p.Arg136=)
Xg.108571422G>ACA413919783COL4A5c.394G>A (p.Gly132Arg)
c.70G>A (p.Gly24Arg)
c.409G>A (p.Gly137Arg)
 ClinVar dbSNP
Xg.108571422G>CCA413919784COL4A5c.394G>C (p.Gly132Arg)
c.70G>C (p.Gly24Arg)
c.409G>C (p.Gly137Arg)
Xg.108571422G>TCA413919786COL4A5c.394G>T (p.Gly132Ter)
c.70G>T (p.Gly24Ter)
c.409G>T (p.Gly137Ter)
 COSMIC
Xg.108571422_108571423delCA2579675821COL4A5c.394_395del (p.Gly132IlefsTer25)
c.70_71del (p.Gly24IlefsTer25)
c.409_410del (p.Gly137IlefsTer25)
Xg.108571423G>ACA413919789COL4A5c.395G>A (p.Gly132Glu)
c.71G>A (p.Gly24Glu)
c.410G>A (p.Gly137Glu)
 ClinVar dbSNP
Xg.108571423G>CCA413919791COL4A5c.395G>C (p.Gly132Ala)
c.71G>C (p.Gly24Ala)
c.410G>C (p.Gly137Ala)
Xg.108571423G=CA2450680108COL4A5c.395G= (p.Gly132=)
c.71G= (p.Gly24=)
c.410G= (p.Gly137=)
Xg.108571423G>TCA413919796COL4A5c.395G>T (p.Gly132Val)
c.71G>T (p.Gly24Val)
c.410G>T (p.Gly137Val)
 COSMIC
Xg.108571424A>CCA517991536COL4A5c.396A>C (p.Gly132=)
c.72A>C (p.Gly24=)
c.411A>C (p.Gly137=)
Xg.108571424A>GCA517991537COL4A5c.396A>G (p.Gly132=)
c.72A>G (p.Gly24=)
c.411A>G (p.Gly137=)
Xg.108571424A>TCA517991538COL4A5c.396A>T (p.Gly132=)
c.72A>T (p.Gly24=)
c.411A>T (p.Gly137=)
Xg.108571425T>ACA413919802COL4A5c.397T>A (p.Phe133Ile)
c.73T>A (p.Phe25Ile)
c.412T>A (p.Phe138Ile)
 dbSNP
Xg.108571425T>CCA413919808COL4A5c.397T>C (p.Phe133Leu)
c.73T>C (p.Phe25Leu)
c.412T>C (p.Phe138Leu)
Xg.108571425T>GCA413919803COL4A5c.397T>G (p.Phe133Val)
c.73T>G (p.Phe25Val)
c.412T>G (p.Phe138Val)
Xg.108571425T=CA2450680109COL4A5c.397T= (p.Phe133=)
c.73T= (p.Phe25=)
c.412T= (p.Phe138=)
Xg.108571426T>ACA413919813COL4A5c.398T>A (p.Phe133Tyr)
c.74T>A (p.Phe25Tyr)
c.413T>A (p.Phe138Tyr)
 gnomAD v4
Xg.108571426T>CCA413919819COL4A5c.398T>C (p.Phe133Ser)
c.74T>C (p.Phe25Ser)
c.413T>C (p.Phe138Ser)
Xg.108571426T>GCA413919815COL4A5c.398T>G (p.Phe133Cys)
c.74T>G (p.Phe25Cys)
c.413T>G (p.Phe138Cys)
Xg.108571427T>ACA413919823COL4A5c.399T>A (p.Phe133Leu)
c.75T>A (p.Phe25Leu)
c.414T>A (p.Phe138Leu)
Xg.108571427T>CCA517991539COL4A5c.399T>C (p.Phe133=)
c.75T>C (p.Phe25=)
c.414T>C (p.Phe138=)
 gnomAD v4
Xg.108571427T>GCA413919828COL4A5c.399T>G (p.Phe133Leu)
c.75T>G (p.Phe25Leu)
c.414T>G (p.Phe138Leu)
Xg.108571428C>ACA413919831COL4A5c.400C>A (p.Pro134Thr)
c.76C>A (p.Pro26Thr)
c.415C>A (p.Pro139Thr)
 gnomAD v4
Xg.108571428C>GCA413919835COL4A5c.400C>G (p.Pro134Ala)
c.76C>G (p.Pro26Ala)
c.415C>G (p.Pro139Ala)
Xg.108571428C>TCA413919833COL4A5c.400C>T (p.Pro134Ser)
c.76C>T (p.Pro26Ser)
c.415C>T (p.Pro139Ser)
 COSMIC COSMIC
Xg.108571429delCA2579675822COL4A5c.401del (p.Pro134GlnfsTer21)
c.77del (p.Pro26GlnfsTer21)
c.416del (p.Pro139GlnfsTer21)
Xg.108571429C>ACA413919840COL4A5c.401C>A (p.Pro134Gln)
c.77C>A (p.Pro26Gln)
c.416C>A (p.Pro139Gln)
 gnomAD v4
Xg.108571429C>GCA413919850COL4A5c.401C>G (p.Pro134Arg)
c.77C>G (p.Pro26Arg)
c.416C>G (p.Pro139Arg)
Xg.108571429C>TCA413919843COL4A5c.401C>T (p.Pro134Leu)
c.77C>T (p.Pro26Leu)
c.416C>T (p.Pro139Leu)
 gnomAD v4
Xg.108571430A=CA2450680110COL4A5c.402A= (p.Pro134=)
c.78A= (p.Pro26=)
c.417A= (p.Pro139=)
Xg.108571430A>CCA517991542COL4A5c.402A>C (p.Pro134=)
c.78A>C (p.Pro26=)
c.417A>C (p.Pro139=)
Xg.108571430A>GCA517991540COL4A5c.402A>G (p.Pro134=)
c.78A>G (p.Pro26=)
c.417A>G (p.Pro139=)
 ClinVar
Xg.108571430A>TCA517991541COL4A5c.402A>T (p.Pro134=)
c.78A>T (p.Pro26=)
c.417A>T (p.Pro139=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108571431G>ACA413919854COL4A5c.403G>A (p.Gly135Ser)
c.79G>A (p.Gly27Ser)
c.418G>A (p.Gly140Ser)
Xg.108571431G>CCA413919864COL4A5c.403G>C (p.Gly135Arg)
c.79G>C (p.Gly27Arg)
c.418G>C (p.Gly140Arg)
Xg.108571431G>TCA413919861COL4A5c.403G>T (p.Gly135Cys)
c.79G>T (p.Gly27Cys)
c.418G>T (p.Gly140Cys)
 gnomAD v4
Xg.108571432G>ACA413919868COL4A5c.404G>A (p.Gly135Asp)
c.80G>A (p.Gly27Asp)
c.419G>A (p.Gly140Asp)
 ClinVar dbSNP gnomAD v4
Xg.108571432G>CCA413919901COL4A5c.404G>C (p.Gly135Ala)
c.80G>C (p.Gly27Ala)
c.419G>C (p.Gly140Ala)
 gnomAD v4
Xg.108571432G=CA2450680111COL4A5c.404G= (p.Gly135=)
c.80G= (p.Gly27=)
c.419G= (p.Gly140=)
Xg.108571432G>TCA413919895COL4A5c.404G>T (p.Gly135Val)
c.80G>T (p.Gly27Val)
c.419G>T (p.Gly140Val)
 ClinVar COSMIC COSMIC
Xg.108571433C>ACA517991543COL4A5c.405C>A (p.Gly135=)
c.81C>A (p.Gly27=)
c.420C>A (p.Gly140=)
Xg.108571433C=CA2450680112COL4A5c.405C= (p.Gly135=)
c.81C= (p.Gly27=)
c.420C= (p.Gly140=)
Xg.108571433C>GCA517991544COL4A5c.405C>G (p.Gly135=)
c.81C>G (p.Gly27=)
c.420C>G (p.Gly140=)
Xg.108571433C>TCA10488450COL4A5c.405C>T (p.Gly135=)
c.81C>T (p.Gly27=)
c.420C>T (p.Gly140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571434A=CA2450680113COL4A5c.406A= (p.Ser136=)
c.82A= (p.Ser28=)
c.421A= (p.Ser141=)
Xg.108571434A>CCA413919906COL4A5c.406A>C (p.Ser136Arg)
c.82A>C (p.Ser28Arg)
c.421A>C (p.Ser141Arg)
Xg.108571434A>GCA10488451COL4A5c.406A>G (p.Ser136Gly)
c.82A>G (p.Ser28Gly)
c.421A>G (p.Ser141Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571434A>TCA413919908COL4A5c.406A>T (p.Ser136Cys)
c.82A>T (p.Ser28Cys)
c.421A>T (p.Ser141Cys)
Xg.108571435G>ACA413919917COL4A5c.407G>A (p.Ser136Asn)
c.83G>A (p.Ser28Asn)
c.422G>A (p.Ser141Asn)
Xg.108571435G>CCA413919919COL4A5c.407G>C (p.Ser136Thr)
c.83G>C (p.Ser28Thr)
c.422G>C (p.Ser141Thr)
Xg.108571435G>TCA413919930COL4A5c.407G>T (p.Ser136Ile)
c.83G>T (p.Ser28Ile)
c.422G>T (p.Ser141Ile)
Xg.108571436T>ACA413919941COL4A5c.408T>A (p.Ser136Arg)
c.84T>A (p.Ser28Arg)
c.423T>A (p.Ser141Arg)
Xg.108571436T>CCA517991545COL4A5c.408T>C (p.Ser136=)
c.84T>C (p.Ser28=)
c.423T>C (p.Ser141=)
Xg.108571436T>GCA413919945COL4A5c.408T>G (p.Ser136Arg)
c.84T>G (p.Ser28Arg)
c.423T>G (p.Ser141Arg)
Xg.108571437C>ACA413919982COL4A5c.409C>A (p.Pro137Thr)
c.85C>A (p.Pro29Thr)
c.424C>A (p.Pro142Thr)
 dbSNP gnomAD v4
Xg.108571437C=CA2450680114COL4A5c.409C= (p.Pro137=)
c.85C= (p.Pro29=)
c.424C= (p.Pro142=)
Xg.108571437C>GCA413919981COL4A5c.409C>G (p.Pro137Ala)
c.85C>G (p.Pro29Ala)
c.424C>G (p.Pro142Ala)
Xg.108571437C>TCA413919965COL4A5c.409C>T (p.Pro137Ser)
c.85C>T (p.Pro29Ser)
c.424C>T (p.Pro142Ser)
Xg.108571438C>ACA413919984COL4A5c.410C>A (p.Pro137His)
c.86C>A (p.Pro29His)
c.425C>A (p.Pro142His)
Xg.108571438C>GCA413919985COL4A5c.410C>G (p.Pro137Arg)
c.86C>G (p.Pro29Arg)
c.425C>G (p.Pro142Arg)
Xg.108571438C>TCA413919989COL4A5c.410C>T (p.Pro137Leu)
c.86C>T (p.Pro29Leu)
c.425C>T (p.Pro142Leu)
Xg.108571439C>ACA517991546COL4A5c.411C>A (p.Pro137=)
c.87C>A (p.Pro29=)
c.426C>A (p.Pro142=)
 gnomAD v4
Xg.108571439C=CA2450680115COL4A5c.411C= (p.Pro137=)
c.87C= (p.Pro29=)
c.426C= (p.Pro142=)
Xg.108571439C>GCA517991547COL4A5c.411C>G (p.Pro137=)
c.87C>G (p.Pro29=)
c.426C>G (p.Pro142=)
 COSMIC COSMIC
Xg.108571439C>TCA10488452COL4A5c.411C>T (p.Pro137=)
c.87C>T (p.Pro29=)
c.426C>T (p.Pro142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571440G>ACA10488453COL4A5c.412G>A (p.Gly138Ser)
c.88G>A (p.Gly30Ser)
c.427G>A (p.Gly143Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108571440G>CCA413920002COL4A5c.412G>C (p.Gly138Arg)
c.88G>C (p.Gly30Arg)
c.427G>C (p.Gly143Arg)
Xg.108571440G=CA2450680116COL4A5c.412G= (p.Gly138=)
c.88G= (p.Gly30=)
c.427G= (p.Gly143=)
Xg.108571440G>TCA413920006COL4A5c.412G>T (p.Gly138Cys)
c.88G>T (p.Gly30Cys)
c.427G>T (p.Gly143Cys)
 ClinVar dbSNP COSMIC COSMIC
Xg.108571441delCA2695235596COL4A5c.413del (p.Gly138ValfsTer17)
c.89del (p.Gly30ValfsTer17)
c.428del (p.Gly143ValfsTer17)
Xg.108571441G>ACA413920015COL4A5c.413G>A (p.Gly138Asp)
c.89G>A (p.Gly30Asp)
c.428G>A (p.Gly143Asp)
 ClinVar dbSNP
Xg.108571441G>CCA413920018COL4A5c.413G>C (p.Gly138Ala)
c.89G>C (p.Gly30Ala)
c.428G>C (p.Gly143Ala)
Xg.108571441G>TCA413920021COL4A5c.413G>T (p.Gly138Val)
c.89G>T (p.Gly30Val)
c.428G>T (p.Gly143Val)
Xg.108571442T>ACA517991548COL4A5c.414T>A (p.Gly138=)
c.90T>A (p.Gly30=)
c.429T>A (p.Gly143=)
Xg.108571442T>CCA517991549COL4A5c.414T>C (p.Gly138=)
c.90T>C (p.Gly30=)
c.429T>C (p.Gly143=)
Xg.108571442T>GCA517991550COL4A5c.414T>G (p.Gly138=)
c.90T>G (p.Gly30=)
c.429T>G (p.Gly143=)
Xg.108571443T>ACA413920031COL4A5c.415T>A (p.Phe139Ile)
c.91T>A (p.Phe31Ile)
c.430T>A (p.Phe144Ile)
Xg.108571443T>CCA413920033COL4A5c.415T>C (p.Phe139Leu)
c.91T>C (p.Phe31Leu)
c.430T>C (p.Phe144Leu)
Xg.108571443T>GCA413920030COL4A5c.415T>G (p.Phe139Val)
c.91T>G (p.Phe31Val)
c.430T>G (p.Phe144Val)
Xg.108571444T>ACA413920038COL4A5c.416T>A (p.Phe139Tyr)
c.92T>A (p.Phe31Tyr)
c.431T>A (p.Phe144Tyr)
Xg.108571444T>CCA413920045COL4A5c.416T>C (p.Phe139Ser)
c.92T>C (p.Phe31Ser)
c.431T>C (p.Phe144Ser)
Xg.108571444T>GCA413920046COL4A5c.416T>G (p.Phe139Cys)
c.92T>G (p.Phe31Cys)
c.431T>G (p.Phe144Cys)
Xg.108571445T>ACA413920047COL4A5c.417T>A (p.Phe139Leu)
c.93T>A (p.Phe31Leu)
c.432T>A (p.Phe144Leu)
Xg.108571445T>CCA517991551COL4A5c.417T>C (p.Phe139=)
c.93T>C (p.Phe31=)
c.432T>C (p.Phe144=)
Xg.108571445T>GCA413920048COL4A5c.417T>G (p.Phe139Leu)
c.93T>G (p.Phe31Leu)
c.432T>G (p.Phe144Leu)
Xg.108571446C>ACA413920049COL4A5c.418C>A (p.Pro140Thr)
c.94C>A (p.Pro32Thr)
c.433C>A (p.Pro145Thr)
Xg.108571446C>GCA413920050COL4A5c.418C>G (p.Pro140Ala)
c.94C>G (p.Pro32Ala)
c.433C>G (p.Pro145Ala)
 gnomAD v4
Xg.108571446C>TCA413920051COL4A5c.418C>T (p.Pro140Ser)
c.94C>T (p.Pro32Ser)
c.433C>T (p.Pro145Ser)
 COSMIC COSMIC
Xg.108571447C>ACA413920052COL4A5c.419C>A (p.Pro140His)
c.95C>A (p.Pro32His)
c.434C>A (p.Pro145His)
Xg.108571447C>GCA413920070COL4A5c.419C>G (p.Pro140Arg)
c.95C>G (p.Pro32Arg)
c.434C>G (p.Pro145Arg)
Xg.108571447C>TCA413920074COL4A5c.419C>T (p.Pro140Leu)
c.95C>T (p.Pro32Leu)
c.434C>T (p.Pro145Leu)
 gnomAD v4
Xg.108571448T>ACA517991552COL4A5c.420T>A (p.Pro140=)
c.96T>A (p.Pro32=)
c.435T>A (p.Pro145=)
Xg.108571448T>CCA517991553COL4A5c.420T>C (p.Pro140=)
c.96T>C (p.Pro32=)
c.435T>C (p.Pro145=)
 gnomAD v4
Xg.108571448T>GCA517991554COL4A5c.420T>G (p.Pro140=)
c.96T>G (p.Pro32=)
c.435T>G (p.Pro145=)
Xg.108571449G>ACA413920080COL4A5c.421G>A (p.Gly141Ser)
c.97G>A (p.Gly33Ser)
c.436G>A (p.Gly146Ser)
 ClinVar dbSNP
Xg.108571449G>CCA413920079COL4A5c.421G>C (p.Gly141Arg)
c.97G>C (p.Gly33Arg)
c.436G>C (p.Gly146Arg)
Xg.108571449G=CA2450680117COL4A5c.421G= (p.Gly141=)
c.97G= (p.Gly33=)
c.436G= (p.Gly146=)
Xg.108571449G>TCA413920077COL4A5c.421G>T (p.Gly141Cys)
c.97G>T (p.Gly33Cys)
c.436G>T (p.Gly146Cys)
Xg.108571450G>ACA413920083COL4A5c.422G>A (p.Gly141Asp)
c.98G>A (p.Gly33Asp)
c.437G>A (p.Gly146Asp)
Xg.108571450G>CCA413920085COL4A5c.422G>C (p.Gly141Ala)
c.98G>C (p.Gly33Ala)
c.437G>C (p.Gly146Ala)
Xg.108571450G>TCA413920087COL4A5c.422G>T (p.Gly141Val)
c.98G>T (p.Gly33Val)
c.437G>T (p.Gly146Val)
Xg.108571451_108571457delCA2695235597COL4A5c.423_429del (p.Leu142ValfsTer11)
c.99_105del (p.Leu34ValfsTer11)
c.438_444del (p.Leu147ValfsTer11)
Xg.108571451T>ACA517991557COL4A5c.423T>A (p.Gly141=)
c.99T>A (p.Gly33=)
c.438T>A (p.Gly146=)
Xg.108571451T>CCA517991556COL4A5c.423T>C (p.Gly141=)
c.99T>C (p.Gly33=)
c.438T>C (p.Gly146=)
Xg.108571451T>GCA517991555COL4A5c.423T>G (p.Gly141=)
c.99T>G (p.Gly33=)
c.438T>G (p.Gly146=)
Xg.108571453delCA2579675823COL4A5c.425del (p.Leu142TyrfsTer13)
c.101del (p.Leu34TyrfsTer13)
c.440del (p.Leu147TyrfsTer13)
Xg.108571452T>ACA413920089COL4A5c.424T>A (p.Leu142Ile)
c.100T>A (p.Leu34Ile)
c.439T>A (p.Leu147Ile)
 gnomAD v4
Xg.108571452T>CCA517991558COL4A5c.424T>C (p.Leu142=)
c.100T>C (p.Leu34=)
c.439T>C (p.Leu147=)
Xg.108571452T>GCA413920092COL4A5c.424T>G (p.Leu142Val)
c.100T>G (p.Leu34Val)
c.439T>G (p.Leu147Val)
Xg.108571453T>ACA413920101COL4A5c.425T>A (p.Leu142Ter)
c.101T>A (p.Leu34Ter)
c.440T>A (p.Leu147Ter)
Xg.108571453T>CCA413920105COL4A5c.425T>C (p.Leu142Ser)
c.101T>C (p.Leu34Ser)
c.440T>C (p.Leu147Ser)
Xg.108571453T>GCA413920109COL4A5c.425T>G (p.Leu142Ter)
c.101T>G (p.Leu34Ter)
c.440T>G (p.Leu147Ter)
Xg.108571454delCA2579675824COL4A5c.426del (p.Leu142PhefsTer13)
c.102del (p.Leu34PhefsTer13)
c.441del (p.Leu147PhefsTer13)
Xg.108571454A>CCA413920115COL4A5c.426A>C (p.Leu142Phe)
c.102A>C (p.Leu34Phe)
c.441A>C (p.Leu147Phe)
Xg.108571454A>GCA517991559COL4A5c.426A>G (p.Leu142=)
c.102A>G (p.Leu34=)
c.441A>G (p.Leu147=)
Xg.108571454A>TCA413920126COL4A5c.426A>T (p.Leu142Phe)
c.102A>T (p.Leu34Phe)
c.441A>T (p.Leu147Phe)
Xg.108571455C>ACA413920127COL4A5c.427C>A (p.Gln143Lys)
c.103C>A (p.Gln35Lys)
c.442C>A (p.Gln148Lys)
Xg.108571455C>GCA413920128COL4A5c.427C>G (p.Gln143Glu)
c.103C>G (p.Gln35Glu)
c.442C>G (p.Gln148Glu)
Xg.108571455C>TCA413920129COL4A5c.427C>T (p.Gln143Ter)
c.103C>T (p.Gln35Ter)
c.442C>T (p.Gln148Ter)
 ClinVar dbSNP
Xg.108571456A>CCA413920142COL4A5c.428A>C (p.Gln143Pro)
c.104A>C (p.Gln35Pro)
c.443A>C (p.Gln148Pro)
Xg.108571456A>GCA413920150COL4A5c.428A>G (p.Gln143Arg)
c.104A>G (p.Gln35Arg)
c.443A>G (p.Gln148Arg)
Xg.108571456A>TCA413920136COL4A5c.428A>T (p.Gln143Leu)
c.104A>T (p.Gln35Leu)
c.443A>T (p.Gln148Leu)
Xg.108571457G>ACA517991560COL4A5c.429G>A (p.Gln143=)
c.105G>A (p.Gln35=)
c.444G>A (p.Gln148=)
Xg.108571457G>CCA413920160COL4A5c.429G>C (p.Gln143His)
c.105G>C (p.Gln35His)
c.444G>C (p.Gln148His)
Xg.108571457G>TCA413920154COL4A5c.429G>T (p.Gln143His)
c.105G>T (p.Gln35His)
c.444G>T (p.Gln148His)
Xg.108571458G>ACA258242COL4A5c.430G>A (p.Gly144Ser)
c.106G>A (p.Gly36Ser)
c.445G>A (p.Gly149Ser)
 dbSNP
Xg.108571458G>CCA261038COL4A5c.430G>C (p.Gly144Arg)
c.106G>C (p.Gly36Arg)
c.445G>C (p.Gly149Arg)
 dbSNP
Xg.108571458G=CA2450680118COL4A5c.430G= (p.Gly144=)
c.106G= (p.Gly36=)
c.445G= (p.Gly149=)
Xg.108571458G>TCA413920170COL4A5c.430G>T (p.Gly144Cys)
c.106G>T (p.Gly36Cys)
c.445G>T (p.Gly149Cys)
Xg.108571459G>ACA258245COL4A5c.431G>A (p.Gly144Asp)
c.107G>A (p.Gly36Asp)
c.446G>A (p.Gly149Asp)
 dbSNP
Xg.108571459G>CCA413920178COL4A5c.431G>C (p.Gly144Ala)
c.107G>C (p.Gly36Ala)
c.446G>C (p.Gly149Ala)
Xg.108571459G=CA2450680119COL4A5c.431G= (p.Gly144=)
c.107G= (p.Gly36=)
c.446G= (p.Gly149=)
Xg.108571459G>TCA413920184COL4A5c.431G>T (p.Gly144Val)
c.107G>T (p.Gly36Val)
c.446G>T (p.Gly149Val)
Xg.108571460T>ACA517991561COL4A5c.432T>A (p.Gly144=)
c.108T>A (p.Gly36=)
c.447T>A (p.Gly149=)
Xg.108571460T>CCA517991562COL4A5c.432T>C (p.Gly144=)
c.108T>C (p.Gly36=)
c.447T>C (p.Gly149=)
Xg.108571460T>GCA517991563COL4A5c.432T>G (p.Gly144=)
c.108T>G (p.Gly36=)
c.447T>G (p.Gly149=)
Xg.108571460_108571463delCA2573159171COL4A5c.432_435del (p.Pro145GlnfsTer9)
c.108_111del (p.Pro37GlnfsTer9)
c.447_450del (p.Pro150GlnfsTer9)
 dbSNP
Xg.108571461C>ACA413920189COL4A5c.433C>A (p.Pro145Thr)
c.109C>A (p.Pro37Thr)
c.448C>A (p.Pro150Thr)
Xg.108571461C=CA2450680120COL4A5c.433C= (p.Pro145=)
c.109C= (p.Pro37=)
c.448C= (p.Pro150=)
Xg.108571461C>GCA413920198COL4A5c.433C>G (p.Pro145Ala)
c.109C>G (p.Pro37Ala)
c.448C>G (p.Pro150Ala)
Xg.108571461C>TCA10488454COL4A5c.433C>T (p.Pro145Ser)
c.109C>T (p.Pro37Ser)
c.448C>T (p.Pro150Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571462C>ACA413920202COL4A5c.434C>A (p.Pro145His)
c.110C>A (p.Pro37His)
c.449C>A (p.Pro150His)
Xg.108571462C=CA2450680121COL4A5c.434C= (p.Pro145=)
c.110C= (p.Pro37=)
c.449C= (p.Pro150=)
Xg.108571462C>GCA413920204COL4A5c.434C>G (p.Pro145Arg)
c.110C>G (p.Pro37Arg)
c.449C>G (p.Pro150Arg)
Xg.108571462C>TCA413920205COL4A5c.434C>T (p.Pro145Leu)
c.110C>T (p.Pro37Leu)
c.449C>T (p.Pro150Leu)
 ClinVar dbSNP
Xg.108571463T>ACA517991564COL4A5c.435T>A (p.Pro145=)
c.111T>A (p.Pro37=)
c.450T>A (p.Pro150=)
Xg.108571463T>CCA10488455COL4A5c.435T>C (p.Pro145=)
c.111T>C (p.Pro37=)
c.450T>C (p.Pro150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571463T>GCA517991565COL4A5c.435T>G (p.Pro145=)
c.111T>G (p.Pro37=)
c.450T>G (p.Pro150=)
Xg.108571463T=CA2450680122COL4A5c.435T= (p.Pro145=)
c.111T= (p.Pro37=)
c.450T= (p.Pro150=)
Xg.108571464C>ACA10488456COL4A5c.436C>A (p.Pro146Thr)
c.112C>A (p.Pro38Thr)
c.451C>A (p.Pro151Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571464C=CA2450680123COL4A5c.436C= (p.Pro146=)
c.112C= (p.Pro38=)
c.451C= (p.Pro151=)
Xg.108571464C>GCA413920210COL4A5c.436C>G (p.Pro146Ala)
c.112C>G (p.Pro38Ala)
c.451C>G (p.Pro151Ala)
Xg.108571464C>TCA413920206COL4A5c.436C>T (p.Pro146Ser)
c.112C>T (p.Pro38Ser)
c.451C>T (p.Pro151Ser)
Xg.108571465delCA2579675825COL4A5c.437del (p.Pro146GlnfsTer9)
c.113del (p.Pro38GlnfsTer9)
c.452del (p.Pro151GlnfsTer9)
Xg.108571465C>ACA413920213COL4A5c.437C>A (p.Pro146Gln)
c.113C>A (p.Pro38Gln)
c.452C>A (p.Pro151Gln)
 gnomAD v4
Xg.108571465C=CA2450680124COL4A5c.437C= (p.Pro146=)
c.113C= (p.Pro38=)
c.452C= (p.Pro151=)
Xg.108571465C>GCA413920216COL4A5c.437C>G (p.Pro146Arg)
c.113C>G (p.Pro38Arg)
c.452C>G (p.Pro151Arg)
 dbSNP
Xg.108571465C>TCA413920219COL4A5c.437C>T (p.Pro146Leu)
c.113C>T (p.Pro38Leu)
c.452C>T (p.Pro151Leu)

Number of alleles fetched