Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108578288C=CA2450682311COL4A5c.688-3C= (n.688-3C=)
c.364-3C= (n.364-3C=)
c.703-3C= (n.703-3C=)
Xg.108578288C>GCA258311COL4A5c.688-3C>G (n.688-3C>G)
c.364-3C>G (n.364-3C>G)
c.703-3C>G (n.703-3C>G)
 dbSNP
Xg.108578289A>CCA413923999COL4A5c.688-2A>C (n.688-2A>C)
c.364-2A>C (n.364-2A>C)
c.703-2A>C (n.703-2A>C)
Xg.108578289A>GCA413924003COL4A5c.688-2A>G (n.688-2A>G)
c.364-2A>G (n.364-2A>G)
c.703-2A>G (n.703-2A>G)
Xg.108578289A>TCA413924004COL4A5c.688-2A>T (n.688-2A>T)
c.364-2A>T (n.364-2A>T)
c.703-2A>T (n.703-2A>T)
Xg.108578289_108578290delinsAGCA2450682312COL4A5c.688-2_688-1delinsAG (n.688-2_688-1delinsAG)
c.364-2_364-1delinsAG (n.364-2_364-1delinsAG)
c.703-2_703-1delinsAG (n.703-2_703-1delinsAG)
Xg.108578290G>ACA413924005COL4A5c.688-1G>A (n.688-1G>A)
c.364-1G>A (n.364-1G>A)
c.703-1G>A (n.703-1G>A)
Xg.108578290G>CCA413924006COL4A5c.688-1G>C (n.688-1G>C)
c.364-1G>C (n.364-1G>C)
c.703-1G>C (n.703-1G>C)
Xg.108578290G>TCA413924007COL4A5c.688-1G>T (n.688-1G>T)
c.364-1G>T (n.364-1G>T)
c.703-1G>T (n.703-1G>T)
Xg.108578292delCA258314COL4A5c.689del
c.365del
c.704del
 dbSNP gnomAD v4
Xg.108578291G>ACA413924010COL4A5c.688G>A (p.Gly230Ser)
c.364G>A (p.Gly122Ser)
c.703G>A (p.Gly235Ser)
Xg.108578291G>CCA258312COL4A5c.688G>C (p.Gly230Arg)
c.364G>C (p.Gly122Arg)
c.703G>C (p.Gly235Arg)
 dbSNP
Xg.108578291G=CA2450682313COL4A5c.688G= (p.Gly230=)
c.364G= (p.Gly122=)
c.703G= (p.Gly235=)
Xg.108578291G>TCA413924013COL4A5c.688G>T (p.Gly230Cys)
c.364G>T (p.Gly122Cys)
c.703G>T (p.Gly235Cys)
 gnomAD v4
Xg.108578292G>ACA258315COL4A5c.689G>A (p.Gly230Asp)
c.365G>A (p.Gly122Asp)
c.704G>A (p.Gly235Asp)
 ClinVar dbSNP
Xg.108578292G>CCA413924020COL4A5c.689G>C (p.Gly230Ala)
c.365G>C (p.Gly122Ala)
c.704G>C (p.Gly235Ala)
Xg.108578292G=CA2450682314COL4A5c.689G= (p.Gly230=)
c.365G= (p.Gly122=)
c.704G= (p.Gly235=)
Xg.108578292G>TCA413924015COL4A5c.689G>T (p.Gly230Val)
c.365G>T (p.Gly122Val)
c.704G>T (p.Gly235Val)
 ClinVar dbSNP gnomAD v4
Xg.108578293T>ACA517991769COL4A5c.690T>A (p.Gly230=)
c.366T>A (p.Gly122=)
c.705T>A (p.Gly235=)
Xg.108578293T>CCA517991770COL4A5c.690T>C (p.Gly230=)
c.366T>C (p.Gly122=)
c.705T>C (p.Gly235=)
 dbSNP gnomAD v4
Xg.108578293T>GCA517991771COL4A5c.690T>G (p.Gly230=)
c.366T>G (p.Gly122=)
c.705T>G (p.Gly235=)
Xg.108578293T=CA2450682315COL4A5c.690T= (p.Gly230=)
c.366T= (p.Gly122=)
c.705T= (p.Gly235=)
Xg.108578294G>ACA334180265COL4A5c.691G>A (p.Glu231Lys)
c.367G>A (p.Glu123Lys)
c.706G>A (p.Glu236Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578294G>CCA413924027COL4A5c.691G>C (p.Glu231Gln)
c.367G>C (p.Glu123Gln)
c.706G>C (p.Glu236Gln)
Xg.108578294G=CA2450682316COL4A5c.691G= (p.Glu231=)
c.367G= (p.Glu123=)
c.706G= (p.Glu236=)
Xg.108578294G>TCA413924030COL4A5c.691G>T (p.Glu231Ter)
c.367G>T (p.Glu123Ter)
c.706G>T (p.Glu236Ter)
Xg.108578295A>CCA413924033COL4A5c.692A>C (p.Glu231Ala)
c.368A>C (p.Glu123Ala)
c.707A>C (p.Glu236Ala)
Xg.108578295A>GCA413924034COL4A5c.692A>G (p.Glu231Gly)
c.368A>G (p.Glu123Gly)
c.707A>G (p.Glu236Gly)
Xg.108578295A>TCA413924036COL4A5c.692A>T (p.Glu231Val)
c.368A>T (p.Glu123Val)
c.707A>T (p.Glu236Val)
Xg.108578296G>ACA517991772COL4A5c.693G>A (p.Glu231=)
c.369G>A (p.Glu123=)
c.708G>A (p.Glu236=)
 gnomAD v4
Xg.108578296G>CCA413924039COL4A5c.693G>C (p.Glu231Asp)
c.369G>C (p.Glu123Asp)
c.708G>C (p.Glu236Asp)
Xg.108578296G>TCA413924040COL4A5c.693G>T (p.Glu231Asp)
c.369G>T (p.Glu123Asp)
c.708G>T (p.Glu236Asp)
Xg.108578297C>ACA413924044COL4A5c.694C>A (p.Gln232Lys)
c.370C>A (p.Gln124Lys)
c.709C>A (p.Gln237Lys)
 gnomAD v4
Xg.108578297C>GCA413924045COL4A5c.694C>G (p.Gln232Glu)
c.370C>G (p.Gln124Glu)
c.709C>G (p.Gln237Glu)
Xg.108578297C>TCA413924048COL4A5c.694C>T (p.Gln232Ter)
c.370C>T (p.Gln124Ter)
c.709C>T (p.Gln237Ter)
 ClinVar
Xg.108578298A>CCA413924053COL4A5c.695A>C (p.Gln232Pro)
c.371A>C (p.Gln124Pro)
c.710A>C (p.Gln237Pro)
Xg.108578298A>GCA413924056COL4A5c.695A>G (p.Gln232Arg)
c.371A>G (p.Gln124Arg)
c.710A>G (p.Gln237Arg)
Xg.108578298A>TCA413924051COL4A5c.695A>T (p.Gln232Leu)
c.371A>T (p.Gln124Leu)
c.710A>T (p.Gln237Leu)
Xg.108578299A>CCA413924058COL4A5c.696A>C (p.Gln232His)
c.372A>C (p.Gln124His)
c.711A>C (p.Gln237His)
 gnomAD v4
Xg.108578299A>GCA517991773COL4A5c.696A>G (p.Gln232=)
c.372A>G (p.Gln124=)
c.711A>G (p.Gln237=)
Xg.108578299A>TCA413924059COL4A5c.696A>T (p.Gln232His)
c.372A>T (p.Gln124His)
c.711A>T (p.Gln237His)
Xg.108578300G>ACA413924061COL4A5c.697G>A (p.Gly233Ser)
c.373G>A (p.Gly125Ser)
c.712G>A (p.Gly238Ser)
Xg.108578300G>CCA413924064COL4A5c.697G>C (p.Gly233Arg)
c.373G>C (p.Gly125Arg)
c.712G>C (p.Gly238Arg)
Xg.108578300G>TCA413924068COL4A5c.697G>T (p.Gly233Cys)
c.373G>T (p.Gly125Cys)
c.712G>T (p.Gly238Cys)
Xg.108578301delCA2695235189COL4A5c.698del (p.Gly233ValfsTer21)
c.374del (p.Gly125ValfsTer21)
c.713del (p.Gly238ValfsTer21)
Xg.108578301G>ACA413924074COL4A5c.698G>A (p.Gly233Asp)
c.374G>A (p.Gly125Asp)
c.713G>A (p.Gly238Asp)
Xg.108578301G>CCA413924069COL4A5c.698G>C (p.Gly233Ala)
c.374G>C (p.Gly125Ala)
c.713G>C (p.Gly238Ala)
 ClinVar dbSNP gnomAD v4
Xg.108578301G=CA2450682317COL4A5c.698G= (p.Gly233=)
c.374G= (p.Gly125=)
c.713G= (p.Gly238=)
Xg.108578301G>TCA413924071COL4A5c.698G>T (p.Gly233Val)
c.374G>T (p.Gly125Val)
c.713G>T (p.Gly238Val)
 ClinVar dbSNP
Xg.108578302T>ACA517991774COL4A5c.699T>A (p.Gly233=)
c.375T>A (p.Gly125=)
c.714T>A (p.Gly238=)
Xg.108578302T>CCA517991775COL4A5c.699T>C (p.Gly233=)
c.375T>C (p.Gly125=)
c.714T>C (p.Gly238=)
Xg.108578302T>GCA517991776COL4A5c.699T>G (p.Gly233=)
c.375T>G (p.Gly125=)
c.714T>G (p.Gly238=)
Xg.108578303C>ACA413924077COL4A5c.700C>A (p.Leu234Ile)
c.376C>A (p.Leu126Ile)
c.715C>A (p.Leu239Ile)
Xg.108578303C=CA2450682318COL4A5c.700C= (p.Leu234=)
c.376C= (p.Leu126=)
c.715C= (p.Leu239=)
Xg.108578303C>GCA10488551COL4A5c.700C>G (p.Leu234Val)
c.376C>G (p.Leu126Val)
c.715C>G (p.Leu239Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578303C>TCA413924081COL4A5c.700C>T (p.Leu234Phe)
c.376C>T (p.Leu126Phe)
c.715C>T (p.Leu239Phe)
Xg.108578304T>ACA413924085COL4A5c.701T>A (p.Leu234His)
c.377T>A (p.Leu126His)
c.716T>A (p.Leu239His)
Xg.108578304T>CCA413924088COL4A5c.701T>C (p.Leu234Pro)
c.377T>C (p.Leu126Pro)
c.716T>C (p.Leu239Pro)
Xg.108578304T>GCA413924090COL4A5c.701T>G (p.Leu234Arg)
c.377T>G (p.Leu126Arg)
c.716T>G (p.Leu239Arg)
Xg.108578305T>ACA517991777COL4A5c.702T>A (p.Leu234=)
c.378T>A (p.Leu126=)
c.717T>A (p.Leu239=)
Xg.108578305T>CCA517991778COL4A5c.702T>C (p.Leu234=)
c.378T>C (p.Leu126=)
c.717T>C (p.Leu239=)
Xg.108578305T>GCA517991779COL4A5c.702T>G (p.Leu234=)
c.378T>G (p.Leu126=)
c.717T>G (p.Leu239=)
Xg.108578306C>ACA413924095COL4A5c.703C>A (p.Gln235Lys)
c.379C>A (p.Gln127Lys)
c.718C>A (p.Gln240Lys)
Xg.108578306C>GCA413924098COL4A5c.703C>G (p.Gln235Glu)
c.379C>G (p.Gln127Glu)
c.718C>G (p.Gln240Glu)
Xg.108578306C>TCA413924093COL4A5c.703C>T (p.Gln235Ter)
c.379C>T (p.Gln127Ter)
c.718C>T (p.Gln240Ter)
 ClinVar
Xg.108578307A>CCA413924110COL4A5c.704A>C (p.Gln235Pro)
c.380A>C (p.Gln127Pro)
c.719A>C (p.Gln240Pro)
Xg.108578307A>GCA413924103COL4A5c.704A>G (p.Gln235Arg)
c.380A>G (p.Gln127Arg)
c.719A>G (p.Gln240Arg)
 gnomAD v4
Xg.108578307A>TCA413924113COL4A5c.704A>T (p.Gln235Leu)
c.380A>T (p.Gln127Leu)
c.719A>T (p.Gln240Leu)
Xg.108578308G>ACA517991780COL4A5c.705G>A (p.Gln235=)
c.381G>A (p.Gln127=)
c.720G>A (p.Gln240=)
 gnomAD v4
Xg.108578308G>CCA413924116COL4A5c.705G>C (p.Gln235His)
c.381G>C (p.Gln127His)
c.720G>C (p.Gln240His)
Xg.108578308G>TCA413924118COL4A5c.705G>T (p.Gln235His)
c.381G>T (p.Gln127His)
c.720G>T (p.Gln240His)
Xg.108578309G>ACA413924121COL4A5c.706G>A (p.Gly236Ser)
c.382G>A (p.Gly128Ser)
c.721G>A (p.Gly241Ser)
 ClinVar
Xg.108578309G>CCA413924124COL4A5c.706G>C (p.Gly236Arg)
c.382G>C (p.Gly128Arg)
c.721G>C (p.Gly241Arg)
Xg.108578309G>TCA413924125COL4A5c.706G>T (p.Gly236Cys)
c.382G>T (p.Gly128Cys)
c.721G>T (p.Gly241Cys)
Xg.108578310G>ACA413924126COL4A5c.707G>A (p.Gly236Asp)
c.383G>A (p.Gly128Asp)
c.722G>A (p.Gly241Asp)
 ClinVar dbSNP
Xg.108578310G>CCA413924129COL4A5c.707G>C (p.Gly236Ala)
c.383G>C (p.Gly128Ala)
c.722G>C (p.Gly241Ala)
Xg.108578310G=CA2450682319COL4A5c.707G= (p.Gly236=)
c.383G= (p.Gly128=)
c.722G= (p.Gly241=)
Xg.108578310G>TCA413924131COL4A5c.707G>T (p.Gly236Val)
c.383G>T (p.Gly128Val)
c.722G>T (p.Gly241Val)
Xg.108578311C>ACA517991781COL4A5c.708C>A (p.Gly236=)
c.384C>A (p.Gly128=)
c.723C>A (p.Gly241=)
 gnomAD v4
Xg.108578311C>GCA517991782COL4A5c.708C>G (p.Gly236=)
c.384C>G (p.Gly128=)
c.723C>G (p.Gly241=)
Xg.108578311C>TCA517991783COL4A5c.708C>T (p.Gly236=)
c.384C>T (p.Gly128=)
c.723C>T (p.Gly241=)
Xg.108578313delCA2580100185COL4A5c.710del (p.Pro237HisfsTer17)
c.386del (p.Pro129HisfsTer17)
c.725del (p.Pro242HisfsTer17)
 ClinVar
Xg.108578312C>ACA413924134COL4A5c.709C>A (p.Pro237Thr)
c.385C>A (p.Pro129Thr)
c.724C>A (p.Pro242Thr)
 gnomAD v4
Xg.108578312C>GCA413924136COL4A5c.709C>G (p.Pro237Ala)
c.385C>G (p.Pro129Ala)
c.724C>G (p.Pro242Ala)
Xg.108578312C>TCA413924139COL4A5c.709C>T (p.Pro237Ser)
c.385C>T (p.Pro129Ser)
c.724C>T (p.Pro242Ser)
 ClinVar dbSNP
Xg.108578322_108578330dupCA2694412261COL4A5c.719_727dup (p.Gly242_Gln243insProProGly)
c.395_403dup (p.Gly134_Gln135insProProGly)
c.734_742dup (p.Gly247_Gln248insProProGly)
 gnomAD v4
Xg.108578322_108578330delCA2694412263COL4A5c.719_727del (p.Pro240_Gly242del)
c.395_403del (p.Pro132_Gly134del)
c.734_742del (p.Pro245_Gly247del)
 gnomAD v4
Xg.108578313C>ACA413924142COL4A5c.710C>A (p.Pro237Gln)
c.386C>A (p.Pro129Gln)
c.725C>A (p.Pro242Gln)
Xg.108578313C>GCA413924144COL4A5c.710C>G (p.Pro237Arg)
c.386C>G (p.Pro129Arg)
c.725C>G (p.Pro242Arg)
Xg.108578313C>TCA413924146COL4A5c.710C>T (p.Pro237Leu)
c.386C>T (p.Pro129Leu)
c.725C>T (p.Pro242Leu)
 gnomAD v4
Xg.108578314A=CA2450682320COL4A5c.711A= (p.Pro237=)
c.387A= (p.Pro129=)
c.726A= (p.Pro242=)
Xg.108578314A>CCA517991784COL4A5c.711A>C (p.Pro237=)
c.387A>C (p.Pro129=)
c.726A>C (p.Pro242=)
 gnomAD v4
Xg.108578314A>GCA517991785COL4A5c.711A>G (p.Pro237=)
c.387A>G (p.Pro129=)
c.726A>G (p.Pro242=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578314A>TCA517991786COL4A5c.711A>T (p.Pro237=)
c.387A>T (p.Pro129=)
c.726A>T (p.Pro242=)
Xg.108578314_108578319delCA2580100186COL4A5c.711_716del (p.Pro238_Gly239del)
c.387_392del (p.Pro130_Gly131del)
c.726_731del (p.Pro243_Gly244del)
 ClinVar
Xg.108578315C>ACA413924154COL4A5c.712C>A (p.Pro238Thr)
c.388C>A (p.Pro130Thr)
c.727C>A (p.Pro243Thr)
Xg.108578315C>GCA413924152COL4A5c.712C>G (p.Pro238Ala)
c.388C>G (p.Pro130Ala)
c.727C>G (p.Pro243Ala)
Xg.108578315C>TCA413924149COL4A5c.712C>T (p.Pro238Ser)
c.388C>T (p.Pro130Ser)
c.727C>T (p.Pro243Ser)
Xg.108578316C>ACA413924157COL4A5c.713C>A (p.Pro238His)
c.389C>A (p.Pro130His)
c.728C>A (p.Pro243His)
Xg.108578316C=CA2450682321COL4A5c.713C= (p.Pro238=)
c.389C= (p.Pro130=)
c.728C= (p.Pro243=)
Xg.108578316C>GCA413924165COL4A5c.713C>G (p.Pro238Arg)
c.389C>G (p.Pro130Arg)
c.728C>G (p.Pro243Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578316C>TCA413924167COL4A5c.713C>T (p.Pro238Leu)
c.389C>T (p.Pro130Leu)
c.728C>T (p.Pro243Leu)
Xg.108578316_108578317delCA2579675949COL4A5c.713_714del (p.Pro238ArgfsTer8)
c.389_390del (p.Pro130ArgfsTer8)
c.728_729del (p.Pro243ArgfsTer8)
Xg.108578317T>ACA517991788COL4A5c.714T>A (p.Pro238=)
c.390T>A (p.Pro130=)
c.729T>A (p.Pro243=)
Xg.108578317T>CCA517991789COL4A5c.714T>C (p.Pro238=)
c.390T>C (p.Pro130=)
c.729T>C (p.Pro243=)
Xg.108578317T>GCA517991787COL4A5c.714T>G (p.Pro238=)
c.390T>G (p.Pro130=)
c.729T>G (p.Pro243=)
Xg.108578318G>ACA413924172COL4A5c.715G>A (p.Gly239Arg)
c.391G>A (p.Gly131Arg)
c.730G>A (p.Gly244Arg)
Xg.108578318G>CCA413924174COL4A5c.715G>C (p.Gly239Arg)
c.391G>C (p.Gly131Arg)
c.730G>C (p.Gly244Arg)
Xg.108578318G=CA2450682322COL4A5c.715G= (p.Gly239=)
c.391G= (p.Gly131=)
c.730G= (p.Gly244=)
Xg.108578318G>TCA413924175COL4A5c.715G>T (p.Gly239Trp)
c.391G>T (p.Gly131Trp)
c.730G>T (p.Gly244Trp)
Xg.108578319G>ACA258318COL4A5c.716G>A (p.Gly239Glu)
c.392G>A (p.Gly131Glu)
c.731G>A (p.Gly244Glu)
 ClinVar dbSNP
Xg.108578319G>CCA413924179COL4A5c.716G>C (p.Gly239Ala)
c.392G>C (p.Gly131Ala)
c.731G>C (p.Gly244Ala)
Xg.108578319G=CA2450682323COL4A5c.716G= (p.Gly239=)
c.392G= (p.Gly131=)
c.731G= (p.Gly244=)
Xg.108578319G>TCA413924181COL4A5c.716G>T (p.Gly239Val)
c.392G>T (p.Gly131Val)
c.731G>T (p.Gly244Val)
Xg.108578320G>ACA517991792COL4A5c.717G>A (p.Gly239=)
c.393G>A (p.Gly131=)
c.732G>A (p.Gly244=)
 gnomAD v4
Xg.108578320G>CCA517991790COL4A5c.717G>C (p.Gly239=)
c.393G>C (p.Gly131=)
c.732G>C (p.Gly244=)
Xg.108578320G>TCA517991791COL4A5c.717G>T (p.Gly239=)
c.393G>T (p.Gly131=)
c.732G>T (p.Gly244=)
Xg.108578321C>ACA413924185COL4A5c.718C>A (p.Pro240Thr)
c.394C>A (p.Pro132Thr)
c.733C>A (p.Pro245Thr)
 dbSNP
Xg.108578321C=CA2450682324COL4A5c.718C= (p.Pro240=)
c.394C= (p.Pro132=)
c.733C= (p.Pro245=)
Xg.108578321C>GCA413924186COL4A5c.718C>G (p.Pro240Ala)
c.394C>G (p.Pro132Ala)
c.733C>G (p.Pro245Ala)
Xg.108578321C>TCA413924189COL4A5c.718C>T (p.Pro240Ser)
c.394C>T (p.Pro132Ser)
c.733C>T (p.Pro245Ser)
 ClinVar
Xg.108578322C>ACA413924193COL4A5c.719C>A (p.Pro240Gln)
c.395C>A (p.Pro132Gln)
c.734C>A (p.Pro245Gln)
Xg.108578322C>GCA413924197COL4A5c.719C>G (p.Pro240Arg)
c.395C>G (p.Pro132Arg)
c.734C>G (p.Pro245Arg)
Xg.108578322C>TCA413924199COL4A5c.719C>T (p.Pro240Leu)
c.395C>T (p.Pro132Leu)
c.734C>T (p.Pro245Leu)
Xg.108578323A>CCA517991793COL4A5c.720A>C (p.Pro240=)
c.396A>C (p.Pro132=)
c.735A>C (p.Pro245=)
Xg.108578323A>GCA517991795COL4A5c.720A>G (p.Pro240=)
c.396A>G (p.Pro132=)
c.735A>G (p.Pro245=)
Xg.108578323A>TCA517991794COL4A5c.720A>T (p.Pro240=)
c.396A>T (p.Pro132=)
c.735A>T (p.Pro245=)
Xg.108578324C>ACA413924206COL4A5c.721C>A (p.Pro241Thr)
c.397C>A (p.Pro133Thr)
c.736C>A (p.Pro246Thr)
Xg.108578324C>GCA413924212COL4A5c.721C>G (p.Pro241Ala)
c.397C>G (p.Pro133Ala)
c.736C>G (p.Pro246Ala)
Xg.108578324C>TCA413924203COL4A5c.721C>T (p.Pro241Ser)
c.397C>T (p.Pro133Ser)
c.736C>T (p.Pro246Ser)
Xg.108578325C>ACA334180269COL4A5c.722C>A (p.Pro241His)
c.398C>A (p.Pro133His)
c.737C>A (p.Pro246His)
 dbSNP
Xg.108578325C=CA2450682325COL4A5c.722C= (p.Pro241=)
c.398C= (p.Pro133=)
c.737C= (p.Pro246=)
Xg.108578325C>GCA413924218COL4A5c.722C>G (p.Pro241Arg)
c.398C>G (p.Pro133Arg)
c.737C>G (p.Pro246Arg)
Xg.108578325C>TCA413924220COL4A5c.722C>T (p.Pro241Leu)
c.398C>T (p.Pro133Leu)
c.737C>T (p.Pro246Leu)
Xg.108578326T>ACA517991796COL4A5c.723T>A (p.Pro241=)
c.399T>A (p.Pro133=)
c.738T>A (p.Pro246=)
Xg.108578326T>CCA517991797COL4A5c.723T>C (p.Pro241=)
c.399T>C (p.Pro133=)
c.738T>C (p.Pro246=)
 gnomAD v4
Xg.108578326T>GCA517991798COL4A5c.723T>G (p.Pro241=)
c.399T>G (p.Pro133=)
c.738T>G (p.Pro246=)
Xg.108578327G>ACA413924224COL4A5c.724G>A (p.Gly242Arg)
c.400G>A (p.Gly134Arg)
c.739G>A (p.Gly247Arg)
Xg.108578327G>CCA413924226COL4A5c.724G>C (p.Gly242Arg)
c.400G>C (p.Gly134Arg)
c.739G>C (p.Gly247Arg)
Xg.108578327G>TCA413924227COL4A5c.724G>T (p.Gly242Trp)
c.400G>T (p.Gly134Trp)
c.739G>T (p.Gly247Trp)
Xg.108578328G>ACA413924229COL4A5c.725G>A (p.Gly242Glu)
c.401G>A (p.Gly134Glu)
c.740G>A (p.Gly247Glu)
Xg.108578328G>CCA413924232COL4A5c.725G>C (p.Gly242Ala)
c.401G>C (p.Gly134Ala)
c.740G>C (p.Gly247Ala)
Xg.108578328G>TCA413924234COL4A5c.725G>T (p.Gly242Val)
c.401G>T (p.Gly134Val)
c.740G>T (p.Gly247Val)
Xg.108578329G>ACA10488552COL4A5c.726G>A (p.Gly242=)
c.402G>A (p.Gly134=)
c.741G>A (p.Gly247=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578329G>CCA517991799COL4A5c.726G>C (p.Gly242=)
c.402G>C (p.Gly134=)
c.741G>C (p.Gly247=)
Xg.108578329G=CA2450682326COL4A5c.726G= (p.Gly242=)
c.402G= (p.Gly134=)
c.741G= (p.Gly247=)
Xg.108578329G>TCA517991800COL4A5c.726G>T (p.Gly242=)
c.402G>T (p.Gly134=)
c.741G>T (p.Gly247=)
Xg.108578330C>ACA413924237COL4A5c.727C>A (p.Gln243Lys)
c.403C>A (p.Gln135Lys)
c.742C>A (p.Gln248Lys)
Xg.108578330C>GCA413924239COL4A5c.727C>G (p.Gln243Glu)
c.403C>G (p.Gln135Glu)
c.742C>G (p.Gln248Glu)
Xg.108578330C>TCA413924242COL4A5c.727C>T (p.Gln243Ter)
c.403C>T (p.Gln135Ter)
c.742C>T (p.Gln248Ter)
Xg.108578331A>CCA413924253COL4A5c.728A>C (p.Gln243Pro)
c.404A>C (p.Gln135Pro)
c.743A>C (p.Gln248Pro)
Xg.108578331A>GCA413924247COL4A5c.728A>G (p.Gln243Arg)
c.404A>G (p.Gln135Arg)
c.743A>G (p.Gln248Arg)
Xg.108578331A>TCA413924250COL4A5c.728A>T (p.Gln243Leu)
c.404A>T (p.Gln135Leu)
c.743A>T (p.Gln248Leu)
Xg.108578332G>ACA517991801COL4A5c.729G>A (p.Gln243=)
c.405G>A (p.Gln135=)
c.744G>A (p.Gln248=)
Xg.108578332G>CCA413924256COL4A5c.729G>C (p.Gln243His)
c.405G>C (p.Gln135His)
c.744G>C (p.Gln248His)
Xg.108578332G>TCA413924257COL4A5c.729G>T (p.Gln243His)
c.405G>T (p.Gln135His)
c.744G>T (p.Gln248His)
 COSMIC COSMIC
Xg.108578333A=CA2450682327COL4A5c.730A= (p.Ile244=)
c.406A= (p.Ile136=)
c.745A= (p.Ile249=)
Xg.108578333A>CCA413924258COL4A5c.730A>C (p.Ile244Leu)
c.406A>C (p.Ile136Leu)
c.745A>C (p.Ile249Leu)
 gnomAD v4
Xg.108578333A>GCA413924259COL4A5c.730A>G (p.Ile244Val)
c.406A>G (p.Ile136Val)
c.745A>G (p.Ile249Val)
Xg.108578333A>TCA10488553COL4A5c.730A>T (p.Ile244Phe)
c.406A>T (p.Ile136Phe)
c.745A>T (p.Ile249Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578334T>ACA413924260COL4A5c.731T>A (p.Ile244Asn)
c.407T>A (p.Ile136Asn)
c.746T>A (p.Ile249Asn)
Xg.108578334T>CCA413924262COL4A5c.731T>C (p.Ile244Thr)
c.407T>C (p.Ile136Thr)
c.746T>C (p.Ile249Thr)
Xg.108578334T>GCA413924264COL4A5c.731T>G (p.Ile244Ser)
c.407T>G (p.Ile136Ser)
c.746T>G (p.Ile249Ser)
Xg.108578335C>ACA517991802COL4A5c.732C>A (p.Ile244=)
c.408C>A (p.Ile136=)
c.747C>A (p.Ile249=)
 gnomAD v4
Xg.108578335C=CA2450682328COL4A5c.732C= (p.Ile244=)
c.408C= (p.Ile136=)
c.747C= (p.Ile249=)
Xg.108578335C>GCA413924265COL4A5c.732C>G (p.Ile244Met)
c.408C>G (p.Ile136Met)
c.747C>G (p.Ile249Met)
 dbSNP
Xg.108578335C>TCA517991803COL4A5c.732C>T (p.Ile244=)
c.408C>T (p.Ile136=)
c.747C>T (p.Ile249=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578336A>CCA413924268COL4A5c.733A>C (p.Ser245Arg)
c.409A>C (p.Ser137Arg)
c.748A>C (p.Ser250Arg)
Xg.108578336A>GCA413924270COL4A5c.733A>G (p.Ser245Gly)
c.409A>G (p.Ser137Gly)
c.748A>G (p.Ser250Gly)
Xg.108578336A>TCA413924273COL4A5c.733A>T (p.Ser245Cys)
c.409A>T (p.Ser137Cys)
c.748A>T (p.Ser250Cys)
Xg.108578337G>ACA413924276COL4A5c.734G>A (p.Ser245Asn)
c.410G>A (p.Ser137Asn)
c.749G>A (p.Ser250Asn)
 gnomAD v4
Xg.108578337G>CCA413924281COL4A5c.734G>C (p.Ser245Thr)
c.410G>C (p.Ser137Thr)
c.749G>C (p.Ser250Thr)
Xg.108578337G>TCA413924279COL4A5c.734G>T (p.Ser245Ile)
c.410G>T (p.Ser137Ile)
c.749G>T (p.Ser250Ile)
Xg.108578338T>ACA413924283COL4A5c.735T>A (p.Ser245Arg)
c.411T>A (p.Ser137Arg)
c.750T>A (p.Ser250Arg)
Xg.108578338T>CCA10488554COL4A5c.735T>C (p.Ser245=)
c.411T>C (p.Ser137=)
c.750T>C (p.Ser250=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578338T>GCA413924286COL4A5c.735T>G (p.Ser245Arg)
c.411T>G (p.Ser137Arg)
c.750T>G (p.Ser250Arg)
Xg.108578338T=CA2450682329COL4A5c.735T= (p.Ser245=)
c.411T= (p.Ser137=)
c.750T= (p.Ser250=)
Xg.108578339G>ACA413924291COL4A5c.736G>A (p.Glu246Lys)
c.412G>A (p.Glu138Lys)
c.751G>A (p.Glu251Lys)
Xg.108578339G>CCA413924300COL4A5c.736G>C (p.Glu246Gln)
c.412G>C (p.Glu138Gln)
c.751G>C (p.Glu251Gln)
Xg.108578339G>TCA413924306COL4A5c.736G>T (p.Glu246Ter)
c.412G>T (p.Glu138Ter)
c.751G>T (p.Glu251Ter)
Xg.108578341_108578350delCA2739289599COL4A5c.738_747del (p.Glu246AspfsTer5)
c.414_423del (p.Glu138AspfsTer5)
c.753_762del (p.Glu251AspfsTer5)
Xg.108578340A>CCA413924308COL4A5c.737A>C (p.Glu246Ala)
c.413A>C (p.Glu138Ala)
c.752A>C (p.Glu251Ala)
Xg.108578340A>GCA413924310COL4A5c.737A>G (p.Glu246Gly)
c.413A>G (p.Glu138Gly)
c.752A>G (p.Glu251Gly)
 COSMIC
Xg.108578340A>TCA413924318COL4A5c.737A>T (p.Glu246Val)
c.413A>T (p.Glu138Val)
c.752A>T (p.Glu251Val)
Xg.108578341A>CCA413924320COL4A5c.738A>C (p.Glu246Asp)
c.414A>C (p.Glu138Asp)
c.753A>C (p.Glu251Asp)
Xg.108578341A>GCA517991804COL4A5c.738A>G (p.Glu246=)
c.414A>G (p.Glu138=)
c.753A>G (p.Glu251=)
Xg.108578341A>TCA413924322COL4A5c.738A>T (p.Glu246Asp)
c.414A>T (p.Glu138Asp)
c.753A>T (p.Glu251Asp)
Xg.108578342C>ACA413924330COL4A5c.739C>A (p.Gln247Lys)
c.415C>A (p.Gln139Lys)
c.754C>A (p.Gln252Lys)
Xg.108578342C>GCA413924332COL4A5c.739C>G (p.Gln247Glu)
c.415C>G (p.Gln139Glu)
c.754C>G (p.Gln252Glu)
Xg.108578342C>TCA413924333COL4A5c.739C>T (p.Gln247Ter)
c.415C>T (p.Gln139Ter)
c.754C>T (p.Gln252Ter)
Xg.108578343A>CCA413924337COL4A5c.740A>C (p.Gln247Pro)
c.416A>C (p.Gln139Pro)
c.755A>C (p.Gln252Pro)
Xg.108578343A>GCA413924335COL4A5c.740A>G (p.Gln247Arg)
c.416A>G (p.Gln139Arg)
c.755A>G (p.Gln252Arg)
Xg.108578343A>TCA413924334COL4A5c.740A>T (p.Gln247Leu)
c.416A>T (p.Gln139Leu)
c.755A>T (p.Gln252Leu)
Xg.108578344G>ACA517991805COL4A5c.741G>A (p.Gln247=)
c.417G>A (p.Gln139=)
c.756G>A (p.Gln252=)
 ClinVar COSMIC COSMIC
Xg.108578344G>CCA413924338COL4A5c.741G>C (p.Gln247His)
c.417G>C (p.Gln139His)
c.756G>C (p.Gln252His)
Xg.108578344G>TCA413924339COL4A5c.741G>T (p.Gln247His)
c.417G>T (p.Gln139His)
c.756G>T (p.Gln252His)
Xg.108578345A>CCA413924343COL4A5c.742A>C (p.Lys248Gln)
c.418A>C (p.Lys140Gln)
c.757A>C (p.Lys253Gln)
Xg.108578345A>GCA413924344COL4A5c.742A>G (p.Lys248Glu)
c.418A>G (p.Lys140Glu)
c.757A>G (p.Lys253Glu)
Xg.108578345A>TCA413924346COL4A5c.742A>T (p.Lys248Ter)
c.418A>T (p.Lys140Ter)
c.757A>T (p.Lys253Ter)
Xg.108578346A>CCA413924353COL4A5c.743A>C (p.Lys248Thr)
c.419A>C (p.Lys140Thr)
c.758A>C (p.Lys253Thr)
Xg.108578346A>GCA413924355COL4A5c.743A>G (p.Lys248Arg)
c.419A>G (p.Lys140Arg)
c.758A>G (p.Lys253Arg)
Xg.108578346A>TCA413924357COL4A5c.743A>T (p.Lys248Ile)
c.419A>T (p.Lys140Ile)
c.758A>T (p.Lys253Ile)
Xg.108578347A>CCA413924360COL4A5c.744A>C (p.Lys248Asn)
c.420A>C (p.Lys140Asn)
c.759A>C (p.Lys253Asn)
Xg.108578347A>GCA517991806COL4A5c.744A>G (p.Lys248=)
c.420A>G (p.Lys140=)
c.759A>G (p.Lys253=)
Xg.108578347A>TCA413924361COL4A5c.744A>T (p.Lys248Asn)
c.420A>T (p.Lys140Asn)
c.759A>T (p.Lys253Asn)
Xg.108578348A=CA2450682330COL4A5c.745A= (p.Arg249=)
c.421A= (p.Arg141=)
c.760A= (p.Arg254=)
Xg.108578348A>CCA517991807COL4A5c.745A>C (p.Arg249=)
c.421A>C (p.Arg141=)
c.760A>C (p.Arg254=)
Xg.108578348A>GCA413924364COL4A5c.745A>G (p.Arg249Gly)
c.421A>G (p.Arg141Gly)
c.760A>G (p.Arg254Gly)
Xg.108578348A>TCA413924365COL4A5c.745A>T (p.Arg249Ter)
c.421A>T (p.Arg141Ter)
c.760A>T (p.Arg254Ter)
 ClinVar dbSNP
Xg.108578349G>ACA334180273COL4A5c.746G>A (p.Arg249Lys)
c.422G>A (p.Arg141Lys)
c.761G>A (p.Arg254Lys)
 dbSNP
Xg.108578349G>CCA413924370COL4A5c.746G>C (p.Arg249Thr)
c.422G>C (p.Arg141Thr)
c.761G>C (p.Arg254Thr)
Xg.108578349G=CA2450682331COL4A5c.746G= (p.Arg249=)
c.422G= (p.Arg141=)
c.761G= (p.Arg254=)
Xg.108578349G>TCA413924368COL4A5c.746G>T (p.Arg249Ile)
c.422G>T (p.Arg141Ile)
c.761G>T (p.Arg254Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578350A=CA2450682332COL4A5c.747A= (p.Arg249=)
c.423A= (p.Arg141=)
c.762A= (p.Arg254=)
Xg.108578350A>CCA10488555COL4A5c.747A>C (p.Arg249Ser)
c.423A>C (p.Arg141Ser)
c.762A>C (p.Arg254Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578350A>GCA517991808COL4A5c.747A>G (p.Arg249=)
c.423A>G (p.Arg141=)
c.762A>G (p.Arg254=)
 gnomAD v4
Xg.108578350A>TCA413924374COL4A5c.747A>T (p.Arg249Ser)
c.423A>T (p.Arg141Ser)
c.762A>T (p.Arg254Ser)
Xg.108578351C>ACA413924376COL4A5c.748C>A (p.Pro250Thr)
c.424C>A (p.Pro142Thr)
c.763C>A (p.Pro255Thr)
 COSMIC COSMIC
Xg.108578351C>GCA413924378COL4A5c.748C>G (p.Pro250Ala)
c.424C>G (p.Pro142Ala)
c.763C>G (p.Pro255Ala)
Xg.108578351C>TCA413924381COL4A5c.748C>T (p.Pro250Ser)
c.424C>T (p.Pro142Ser)
c.763C>T (p.Pro255Ser)
Xg.108578352C>ACA413924387COL4A5c.749C>A (p.Pro250Gln)
c.425C>A (p.Pro142Gln)
c.764C>A (p.Pro255Gln)
Xg.108578352C>GCA413924389COL4A5c.749C>G (p.Pro250Arg)
c.425C>G (p.Pro142Arg)
c.764C>G (p.Pro255Arg)
Xg.108578352C>TCA413924392COL4A5c.749C>T (p.Pro250Leu)
c.425C>T (p.Pro142Leu)
c.764C>T (p.Pro255Leu)
 gnomAD v4
Xg.108578353A=CA2450682333COL4A5c.750A= (p.Pro250=)
c.426A= (p.Pro142=)
c.765A= (p.Pro255=)
Xg.108578353A>CCA517991809COL4A5c.750A>C (p.Pro250=)
c.426A>C (p.Pro142=)
c.765A>C (p.Pro255=)
Xg.108578353A>GCA517991810COL4A5c.750A>G (p.Pro250=)
c.426A>G (p.Pro142=)
c.765A>G (p.Pro255=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578353A>TCA517991811COL4A5c.750A>T (p.Pro250=)
c.426A>T (p.Pro142=)
c.765A>T (p.Pro255=)
Xg.108578354A=CA2450682334COL4A5c.751A= (p.Ile251=)
c.427A= (p.Ile143=)
c.766A= (p.Ile256=)
Xg.108578354A>CCA413924395COL4A5c.751A>C (p.Ile251Leu)
c.427A>C (p.Ile143Leu)
c.766A>C (p.Ile256Leu)
Xg.108578354A>GCA10488556COL4A5c.751A>G (p.Ile251Val)
c.427A>G (p.Ile143Val)
c.766A>G (p.Ile256Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578354A>TCA413924401COL4A5c.751A>T (p.Ile251Phe)
c.427A>T (p.Ile143Phe)
c.766A>T (p.Ile256Phe)
Xg.108578355T>ACA413924404COL4A5c.752T>A (p.Ile251Asn)
c.428T>A (p.Ile143Asn)
c.767T>A (p.Ile256Asn)
Xg.108578355T>CCA413924407COL4A5c.752T>C (p.Ile251Thr)
c.428T>C (p.Ile143Thr)
c.767T>C (p.Ile256Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578355T>GCA413924414COL4A5c.752T>G (p.Ile251Ser)
c.428T>G (p.Ile143Ser)
c.767T>G (p.Ile256Ser)
Xg.108578355T=CA2450682335COL4A5c.752T= (p.Ile251=)
c.428T= (p.Ile143=)
c.767T= (p.Ile256=)
Xg.108578356T>ACA517991812COL4A5c.753T>A (p.Ile251=)
c.429T>A (p.Ile143=)
c.768T>A (p.Ile256=)
Xg.108578356T>CCA517991813COL4A5c.753T>C (p.Ile251=)
c.429T>C (p.Ile143=)
c.768T>C (p.Ile256=)
Xg.108578356T>GCA413924415COL4A5c.753T>G (p.Ile251Met)
c.429T>G (p.Ile143Met)
c.768T>G (p.Ile256Met)
Xg.108578357G>ACA413924416COL4A5c.754G>A (p.Asp252Asn)
c.430G>A (p.Asp144Asn)
c.769G>A (p.Asp257Asn)
Xg.108578357G>CCA413924417COL4A5c.754G>C (p.Asp252His)
c.430G>C (p.Asp144His)
c.769G>C (p.Asp257His)
 gnomAD v4
Xg.108578357G>TCA413924423COL4A5c.754G>T (p.Asp252Tyr)
c.430G>T (p.Asp144Tyr)
c.769G>T (p.Asp257Tyr)
Xg.108578358A>CCA413924428COL4A5c.755A>C (p.Asp252Ala)
c.431A>C (p.Asp144Ala)
c.770A>C (p.Asp257Ala)
Xg.108578358A>GCA413924434COL4A5c.755A>G (p.Asp252Gly)
c.431A>G (p.Asp144Gly)
c.770A>G (p.Asp257Gly)
Xg.108578358A>TCA413924435COL4A5c.755A>T (p.Asp252Val)
c.431A>T (p.Asp144Val)
c.770A>T (p.Asp257Val)
Xg.108578359T>ACA413924440COL4A5c.756T>A (p.Asp252Glu)
c.432T>A (p.Asp144Glu)
c.771T>A (p.Asp257Glu)
Xg.108578359T>CCA10488557COL4A5c.756T>C (p.Asp252=)
c.432T>C (p.Asp144=)
c.771T>C (p.Asp257=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578359T>GCA413924445COL4A5c.756T>G (p.Asp252Glu)
c.432T>G (p.Asp144Glu)
c.771T>G (p.Asp257Glu)
Xg.108578359T=CA2450682336COL4A5c.756T= (p.Asp252=)
c.432T= (p.Asp144=)
c.771T= (p.Asp257=)
Xg.108578359_108578360delinsTGCA2450682337COL4A5c.756_757delinsTG (p.Asp252=)
c.432_433delinsTG (p.Asp144=)
c.771_772delinsTG (p.Asp257=)
Xg.108578360G>ACA10488558COL4A5c.757G>A (p.Val253Ile)
c.433G>A (p.Val145Ile)
c.772G>A (p.Val258Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578360G>CCA413924451COL4A5c.757G>C (p.Val253Leu)
c.433G>C (p.Val145Leu)
c.772G>C (p.Val258Leu)
Xg.108578360G=CA2450682339COL4A5c.757G= (p.Val253=)
c.433G= (p.Val145=)
c.772G= (p.Val258=)
Xg.108578360G>TCA413924454COL4A5c.757G>T (p.Val253Leu)
c.433G>T (p.Val145Leu)
c.772G>T (p.Val258Leu)
Xg.108578360delinsCTCA2450682338COL4A5c.757delinsCT (p.Val253LeufsTer13)
c.433delinsCT (p.Val145LeufsTer13)
c.772delinsCT (p.Val258LeufsTer13)
 ClinVar dbSNP
Xg.108578361T>ACA413924456COL4A5c.758T>A (p.Val253Glu)
c.434T>A (p.Val145Glu)
c.773T>A (p.Val258Glu)
Xg.108578361T>CCA413924474COL4A5c.758T>C (p.Val253Ala)
c.434T>C (p.Val145Ala)
c.773T>C (p.Val258Ala)
Xg.108578361T>GCA413924459COL4A5c.758T>G (p.Val253Gly)
c.434T>G (p.Val145Gly)
c.773T>G (p.Val258Gly)
Xg.108578361_108578363delinsTAGCA2450682340COL4A5c.758_760delinsTAG (p.Val253=)
c.434_436delinsTAG (p.Val145=)
c.773_775delinsTAG (p.Val258=)
Xg.108578362delCA2579675950COL4A5c.759del (p.Glu254SerfsTer?)
c.435del (p.Glu146SerfsTer?)
c.774del (p.Glu259SerfsTer?)
Xg.108578362A=CA2450682341COL4A5c.759A= (p.Val253=)
c.435A= (p.Val145=)
c.774A= (p.Val258=)
Xg.108578362A>CCA517991814COL4A5c.759A>C (p.Val253=)
c.435A>C (p.Val145=)
c.774A>C (p.Val258=)
Xg.108578362A>GCA517991815COL4A5c.759A>G (p.Val253=)
c.435A>G (p.Val145=)
c.774A>G (p.Val258=)
 dbSNP
Xg.108578362A>TCA517991816COL4A5c.759A>T (p.Val253=)
c.435A>T (p.Val145=)
c.774A>T (p.Val258=)
Xg.108578364_108578365delCA258320COL4A5c.761_762del (p.Glu254ValfsTer11)
c.437_438del (p.Glu146ValfsTer11)
c.776_777del (p.Glu259ValfsTer11)
 ClinVar dbSNP
Xg.108578363G>ACA413924477COL4A5c.760G>A (p.Glu254Lys)
c.436G>A (p.Glu146Lys)
c.775G>A (p.Glu259Lys)
Xg.108578363G>CCA413924481COL4A5c.760G>C (p.Glu254Gln)
c.436G>C (p.Glu146Gln)
c.775G>C (p.Glu259Gln)
Xg.108578363G>TCA413924479COL4A5c.760G>T (p.Glu254Ter)
c.436G>T (p.Glu146Ter)
c.775G>T (p.Glu259Ter)
 ClinVar
Xg.108578364A=CA2450682342COL4A5c.761A= (p.Glu254=)
c.437A= (p.Glu146=)
c.776A= (p.Glu259=)
Xg.108578364A>CCA10488559COL4A5c.761A>C (p.Glu254Ala)
c.437A>C (p.Glu146Ala)
c.776A>C (p.Glu259Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578364A>GCA413924492COL4A5c.761A>G (p.Glu254Gly)
c.437A>G (p.Glu146Gly)
c.776A>G (p.Glu259Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578364A>TCA413924494COL4A5c.761A>T (p.Glu254Val)
c.437A>T (p.Glu146Val)
c.776A>T (p.Glu259Val)
Xg.108578365G>ACA517991817COL4A5c.762G>A (p.Glu254=)
c.438G>A (p.Glu146=)
c.777G>A (p.Glu259=)
Xg.108578365G>CCA413924498COL4A5c.762G>C (p.Glu254Asp)
c.438G>C (p.Glu146Asp)
c.777G>C (p.Glu259Asp)
Xg.108578365G>TCA413924499COL4A5c.762G>T (p.Glu254Asp)
c.438G>T (p.Glu146Asp)
c.777G>T (p.Glu259Asp)
Xg.108578366T>ACA413924503COL4A5c.763T>A (p.Phe255Ile)
c.439T>A (p.Phe147Ile)
c.778T>A (p.Phe260Ile)
Xg.108578366T>CCA413924505COL4A5c.763T>C (p.Phe255Leu)
c.439T>C (p.Phe147Leu)
c.778T>C (p.Phe260Leu)
Xg.108578366T>GCA413924508COL4A5c.763T>G (p.Phe255Val)
c.439T>G (p.Phe147Val)
c.778T>G (p.Phe260Val)
Xg.108578367T>ACA413924511COL4A5c.764T>A (p.Phe255Tyr)
c.440T>A (p.Phe147Tyr)
c.779T>A (p.Phe260Tyr)
Xg.108578367T>CCA413924516COL4A5c.764T>C (p.Phe255Ser)
c.440T>C (p.Phe147Ser)
c.779T>C (p.Phe260Ser)
Xg.108578367T>GCA413924521COL4A5c.764T>G (p.Phe255Cys)
c.440T>G (p.Phe147Cys)
c.779T>G (p.Phe260Cys)
Xg.108578368T>ACA413924524COL4A5c.765T>A (p.Phe255Leu)
c.441T>A (p.Phe147Leu)
c.780T>A (p.Phe260Leu)
Xg.108578368T>CCA517991818COL4A5c.765T>C (p.Phe255=)
c.441T>C (p.Phe147=)
c.780T>C (p.Phe260=)
Xg.108578368T>GCA413924526COL4A5c.765T>G (p.Phe255Leu)
c.441T>G (p.Phe147Leu)
c.780T>G (p.Phe260Leu)
Xg.108578369C>ACA413924545COL4A5c.766C>A (p.Gln256Lys)
c.442C>A (p.Gln148Lys)
c.781C>A (p.Gln261Lys)
Xg.108578369C>GCA413924539COL4A5c.766C>G (p.Gln256Glu)
c.442C>G (p.Gln148Glu)
c.781C>G (p.Gln261Glu)
Xg.108578369C>TCA413924543COL4A5c.766C>T (p.Gln256Ter)
c.442C>T (p.Gln148Ter)
c.781C>T (p.Gln261Ter)
Xg.108578370A>CCA413924550COL4A5c.767A>C (p.Gln256Pro)
c.443A>C (p.Gln148Pro)
c.782A>C (p.Gln261Pro)
Xg.108578370A>GCA413924552COL4A5c.767A>G (p.Gln256Arg)
c.443A>G (p.Gln148Arg)
c.782A>G (p.Gln261Arg)
 gnomAD v4
Xg.108578370A>TCA413924556COL4A5c.767A>T (p.Gln256Leu)
c.443A>T (p.Gln148Leu)
c.782A>T (p.Gln261Leu)
Xg.108578373_108578379delCA2580612288COL4A5c.770_776del (p.Lys257IlefsTer?)
c.446_452del (p.Lys149IlefsTer?)
c.785_791del (p.Lys262IlefsTer?)
 ClinVar
Xg.108578371G>ACA517991819COL4A5c.768G>A (p.Gln256=)
c.444G>A (p.Gln148=)
c.783G>A (p.Gln261=)
 COSMIC
Xg.108578371G>CCA413924559COL4A5c.768G>C (p.Gln256His)
c.444G>C (p.Gln148His)
c.783G>C (p.Gln261His)
 ClinVar dbSNP
Xg.108578371G>TCA413924563COL4A5c.768G>T (p.Gln256His)
c.444G>T (p.Gln148His)
c.783G>T (p.Gln261His)
 COSMIC COSMIC
Xg.108578372A>CCA413924566COL4A5c.769A>C (p.Lys257Gln)
c.445A>C (p.Lys149Gln)
c.784A>C (p.Lys262Gln)
Xg.108578372A>GCA413924570COL4A5c.769A>G (p.Lys257Glu)
c.445A>G (p.Lys149Glu)
c.784A>G (p.Lys262Glu)
Xg.108578372A>TCA413924573COL4A5c.769A>T (p.Lys257Ter)
c.445A>T (p.Lys149Ter)
c.784A>T (p.Lys262Ter)
Xg.108578373A>CCA413924575COL4A5c.770A>C (p.Lys257Thr)
c.446A>C (p.Lys149Thr)
c.785A>C (p.Lys262Thr)
Xg.108578373A>GCA413924576COL4A5c.770A>G (p.Lys257Arg)
c.446A>G (p.Lys149Arg)
c.785A>G (p.Lys262Arg)
Xg.108578373A>TCA413924580COL4A5c.770A>T (p.Lys257Ile)
c.446A>T (p.Lys149Ile)
c.785A>T (p.Lys262Ile)
Xg.108578374A=CA2450682343COL4A5c.771A= (p.Lys257=)
c.447A= (p.Lys149=)
c.786A= (p.Lys262=)
Xg.108578374A>CCA413924585COL4A5c.771A>C (p.Lys257Asn)
c.447A>C (p.Lys149Asn)
c.786A>C (p.Lys262Asn)
Xg.108578374A>GCA517991820COL4A5c.771A>G (p.Lys257=)
c.447A>G (p.Lys149=)
c.786A>G (p.Lys262=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578374A>TCA413924584COL4A5c.771A>T (p.Lys257Asn)
c.447A>T (p.Lys149Asn)
c.786A>T (p.Lys262Asn)
Xg.108578375G>ACA413924589COL4A5c.772G>A (p.Gly258Arg)
c.448G>A (p.Gly150Arg)
c.787G>A (p.Gly263Arg)
Xg.108578375G>CCA413924591COL4A5c.772G>C (p.Gly258Arg)
c.448G>C (p.Gly150Arg)
c.787G>C (p.Gly263Arg)
Xg.108578375G>TCA413924593COL4A5c.772G>T (p.Gly258Ter)
c.448G>T (p.Gly150Ter)
c.787G>T (p.Gly263Ter)
 COSMIC COSMIC
Xg.108578376G>ACA334180282COL4A5c.773G>A (p.Gly258Glu)
c.449G>A (p.Gly150Glu)
c.788G>A (p.Gly263Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.108578376G>CCA413924599COL4A5c.773G>C (p.Gly258Ala)
c.449G>C (p.Gly150Ala)
c.788G>C (p.Gly263Ala)
Xg.108578376G=CA2450682344COL4A5c.773G= (p.Gly258=)
c.449G= (p.Gly150=)
c.788G= (p.Gly263=)
Xg.108578376G>TCA413924601COL4A5c.773G>T (p.Gly258Val)
c.449G>T (p.Gly150Val)
c.788G>T (p.Gly263Val)
Xg.108578377A>CCA517991821COL4A5c.774A>C (p.Gly258=)
c.450A>C (p.Gly150=)
c.789A>C (p.Gly263=)
Xg.108578377A>GCA517991822COL4A5c.774A>G (p.Gly258=)
c.450A>G (p.Gly150=)
c.789A>G (p.Gly263=)
Xg.108578377A>TCA517991823COL4A5c.774A>T (p.Gly258=)
c.450A>T (p.Gly150=)
c.789A>T (p.Gly263=)
Xg.108578378G>ACA10488560COL4A5c.775G>A (p.Asp259Asn)
c.451G>A (p.Asp151Asn)
c.790G>A (p.Asp264Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578378G>CCA413924603COL4A5c.775G>C (p.Asp259His)
c.451G>C (p.Asp151His)
c.790G>C (p.Asp264His)
 dbSNP gnomAD v2
Xg.108578378G=CA2450682345COL4A5c.775G= (p.Asp259=)
c.451G= (p.Asp151=)
c.790G= (p.Asp264=)
Xg.108578378G>TCA413924606COL4A5c.775G>T (p.Asp259Tyr)
c.451G>T (p.Asp151Tyr)
c.790G>T (p.Asp264Tyr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578379A>CCA413924611COL4A5c.776A>C (p.Asp259Ala)
c.452A>C (p.Asp151Ala)
c.791A>C (p.Asp264Ala)
Xg.108578379A>GCA413924615COL4A5c.776A>G (p.Asp259Gly)
c.452A>G (p.Asp151Gly)
c.791A>G (p.Asp264Gly)
Xg.108578379A>TCA413924617COL4A5c.776A>T (p.Asp259Val)
c.452A>T (p.Asp151Val)
c.791A>T (p.Asp264Val)
Xg.108578380T>ACA413924620COL4A5c.777T>A (p.Asp259Glu)
c.453T>A (p.Asp151Glu)
c.792T>A (p.Asp264Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578380T>CCA517991824COL4A5c.777T>C (p.Asp259=)
c.453T>C (p.Asp151=)
c.792T>C (p.Asp264=)
Xg.108578380T>GCA413924623COL4A5c.777T>G (p.Asp259Glu)
c.453T>G (p.Asp151Glu)
c.792T>G (p.Asp264Glu)
Xg.108578380T=CA2450682346COL4A5c.777T= (p.Asp259=)
c.453T= (p.Asp151=)
c.792T= (p.Asp264=)
Xg.108578381C>ACA413924626COL4A5c.778C>A (p.Gln260Lys)
c.454C>A (p.Gln152Lys)
c.793C>A (p.Gln265Lys)
Xg.108578381C>GCA413924632COL4A5c.778C>G (p.Gln260Glu)
c.454C>G (p.Gln152Glu)
c.793C>G (p.Gln265Glu)
Xg.108578381C>TCA413924630COL4A5c.778C>T (p.Gln260Ter)
c.454C>T (p.Gln152Ter)
c.793C>T (p.Gln265Ter)
 COSMIC
Xg.108578382A=CA2450682347COL4A5c.779A= (p.Gln260=)
c.455A= (p.Gln152=)
c.794A= (p.Gln265=)
Xg.108578382A>CCA413924635COL4A5c.779A>C (p.Gln260Pro)
c.455A>C (p.Gln152Pro)
c.794A>C (p.Gln265Pro)
 ClinVar
Xg.108578382A>GCA10488561COL4A5c.779A>G (p.Gln260Arg)
c.455A>G (p.Gln152Arg)
c.794A>G (p.Gln265Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578382A>TCA413924648COL4A5c.779A>T (p.Gln260Leu)
c.455A>T (p.Gln152Leu)
c.794A>T (p.Gln265Leu)
Xg.108578383G>ACA517991825COL4A5c.780G>A (p.Gln260=)
c.456G>A (p.Gln152=)
c.795G>A (p.Gln265=)
 gnomAD v4
Xg.108578383G>CCA413924651COL4A5c.780G>C (p.Gln260His)
c.456G>C (p.Gln152His)
c.795G>C (p.Gln265His)
Xg.108578383G>TCA413924655COL4A5c.780G>T (p.Gln260His)
c.456G>T (p.Gln152His)
c.795G>T (p.Gln265His)
Xg.108578384G>ACA413924659COL4A5c.780+1G>A (n.780+1G>A)
c.456+1G>A (n.456+1G>A)
c.795+1G>A (n.795+1G>A)
 ClinVar
Xg.108578384G>CCA413924662COL4A5c.780+1G>C (n.780+1G>C)
c.456+1G>C (n.456+1G>C)
c.795+1G>C (n.795+1G>C)
Xg.108578384G=CA2450682348COL4A5c.780+1G= (n.780+1G=)
c.456+1G= (n.456+1G=)
c.795+1G= (n.795+1G=)
Xg.108578384G>TCA10488562COL4A5c.780+1G>T (n.780+1G>T)
c.456+1G>T (n.456+1G>T)
c.795+1G>T (n.795+1G>T)
 dbSNP ExAC gnomAD v2
Xg.108578385T>ACA413924671COL4A5c.780+2T>A (n.780+2T>A)
c.456+2T>A (n.456+2T>A)
c.795+2T>A (n.795+2T>A)
 dbSNP
Xg.108578385T>CCA413924674COL4A5c.780+2T>C (n.780+2T>C)
c.456+2T>C (n.456+2T>C)
c.795+2T>C (n.795+2T>C)
Xg.108578385T>GCA258321COL4A5c.780+2T>G (n.780+2T>G)
c.456+2T>G (n.456+2T>G)
c.795+2T>G (n.795+2T>G)
 dbSNP
Xg.108578385T=CA2450682349COL4A5c.780+2T= (n.780+2T=)
c.456+2T= (n.456+2T=)
c.795+2T= (n.795+2T=)
Xg.108578386G>ACA2694412355COL4A5c.780+3G>A (n.780+3G>A)
c.456+3G>A (n.456+3G>A)
c.795+3G>A (n.795+3G>A)
 gnomAD v4
Xg.108578387A>GCA2694412357COL4A5c.780+4A>G (n.780+4A>G)
c.456+4A>G (n.456+4A>G)
c.795+4A>G (n.795+4A>G)
 gnomAD v4
Xg.108578388G>ACA645608362COL4A5c.780+5G>A (n.780+5G>A)
c.456+5G>A (n.456+5G>A)
c.795+5G>A (n.795+5G>A)
 COSMIC COSMIC
Xg.108578388G=CA2450682350COL4A5c.780+5G= (n.780+5G=)
c.456+5G= (n.456+5G=)
c.795+5G= (n.795+5G=)

Number of alleles fetched