Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)

Number of alleles fetched