Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108571818dupCA258250COL4A5c.446dup (p.Gly150TrpfsTer8)
c.122dup (p.Gly42TrpfsTer8)
c.461dup (p.Gly155TrpfsTer8)
 dbSNP
Xg.108571818delCA258251COL4A5c.446del (p.Pro149LeufsTer6)
c.122del (p.Pro41LeufsTer6)
c.461del (p.Pro154LeufsTer6)
 ClinVar dbSNP gnomAD v4
Xg.108571816C>ACA517991573COL4A5c.444C>A (p.Pro148=)
c.120C>A (p.Pro40=)
c.459C>A (p.Pro153=)
Xg.108571816C=CA2450680239COL4A5c.444C= (p.Pro148=)
c.120C= (p.Pro40=)
c.459C= (p.Pro153=)
Xg.108571816C>GCA517991574COL4A5c.444C>G (p.Pro148=)
c.120C>G (p.Pro40=)
c.459C>G (p.Pro153=)
Xg.108571816C>TCA517991575COL4A5c.444C>T (p.Pro148=)
c.120C>T (p.Pro40=)
c.459C>T (p.Pro153=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108571817C>ACA413920374COL4A5c.445C>A (p.Pro149Thr)
c.121C>A (p.Pro41Thr)
c.460C>A (p.Pro154Thr)
Xg.108571817C=CA2450680240COL4A5c.445C= (p.Pro149=)
c.121C= (p.Pro41=)
c.460C= (p.Pro154=)
Xg.108571817C>GCA413920380COL4A5c.445C>G (p.Pro149Ala)
c.121C>G (p.Pro41Ala)
c.460C>G (p.Pro154Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571817C>TCA413920383COL4A5c.445C>T (p.Pro149Ser)
c.121C>T (p.Pro41Ser)
c.460C>T (p.Pro154Ser)
 gnomAD v4
Xg.108571818C>ACA413920405COL4A5c.446C>A (p.Pro149His)
c.122C>A (p.Pro41His)
c.461C>A (p.Pro154His)
 gnomAD v4
Xg.108571818C>GCA413920413COL4A5c.446C>G (p.Pro149Arg)
c.122C>G (p.Pro41Arg)
c.461C>G (p.Pro154Arg)
Xg.108571818C>TCA413920417COL4A5c.446C>T (p.Pro149Leu)
c.122C>T (p.Pro41Leu)
c.461C>T (p.Pro154Leu)
Xg.108571819delCA2694439737COL4A5c.447del (p.Ile151SerfsTer4)
c.123del (p.Ile43SerfsTer4)
c.462del (p.Ile156SerfsTer4)
 gnomAD v4
Xg.108571819T>ACA517991577COL4A5c.447T>A (p.Pro149=)
c.123T>A (p.Pro41=)
c.462T>A (p.Pro154=)
Xg.108571819T>CCA517991578COL4A5c.447T>C (p.Pro149=)
c.123T>C (p.Pro41=)
c.462T>C (p.Pro154=)
Xg.108571819T>GCA517991576COL4A5c.447T>G (p.Pro149=)
c.123T>G (p.Pro41=)
c.462T>G (p.Pro154=)
Xg.108571820G>ACA413920423COL4A5c.448G>A (p.Gly150Arg)
c.124G>A (p.Gly42Arg)
c.463G>A (p.Gly155Arg)
 gnomAD v4
Xg.108571820G>CCA413920422COL4A5c.448G>C (p.Gly150Arg)
c.124G>C (p.Gly42Arg)
c.463G>C (p.Gly155Arg)
Xg.108571820G>TCA413920421COL4A5c.448G>T (p.Gly150Trp)
c.124G>T (p.Gly42Trp)
c.463G>T (p.Gly155Trp)
Xg.108571821G>ACA413920424COL4A5c.449G>A (p.Gly150Glu)
c.125G>A (p.Gly42Glu)
c.464G>A (p.Gly155Glu)
Xg.108571821G>CCA413920425COL4A5c.449G>C (p.Gly150Ala)
c.125G>C (p.Gly42Ala)
c.464G>C (p.Gly155Ala)
Xg.108571821G>TCA413920426COL4A5c.449G>T (p.Gly150Val)
c.125G>T (p.Gly42Val)
c.464G>T (p.Gly155Val)
Xg.108571822G>ACA517991579COL4A5c.450G>A (p.Gly150=)
c.126G>A (p.Gly42=)
c.465G>A (p.Gly155=)
Xg.108571822G>CCA517991580COL4A5c.450G>C (p.Gly150=)
c.126G>C (p.Gly42=)
c.465G>C (p.Gly155=)
Xg.108571822G=CA2450680241COL4A5c.450G= (p.Gly150=)
c.126G= (p.Gly42=)
c.465G= (p.Gly155=)
Xg.108571822G>TCA334179259COL4A5c.450G>T (p.Gly150=)
c.126G>T (p.Gly42=)
c.465G>T (p.Gly155=)
 dbSNP
Xg.108571823A=CA2450680242COL4A5c.451A= (p.Ile151=)
c.127A= (p.Ile43=)
c.466A= (p.Ile156=)
Xg.108571823A>CCA413920428COL4A5c.451A>C (p.Ile151Leu)
c.127A>C (p.Ile43Leu)
c.466A>C (p.Ile156Leu)
Xg.108571823A>GCA413920434COL4A5c.451A>G (p.Ile151Val)
c.127A>G (p.Ile43Val)
c.466A>G (p.Ile156Val)
 dbSNP gnomAD v4
Xg.108571823A>TCA413920436COL4A5c.451A>T (p.Ile151Phe)
c.127A>T (p.Ile43Phe)
c.466A>T (p.Ile156Phe)
Xg.108571824T>ACA413920439COL4A5c.452T>A (p.Ile151Asn)
c.128T>A (p.Ile43Asn)
c.467T>A (p.Ile156Asn)
 dbSNP gnomAD v4
Xg.108571824T>CCA413920444COL4A5c.452T>C (p.Ile151Thr)
c.128T>C (p.Ile43Thr)
c.467T>C (p.Ile156Thr)
Xg.108571824T>GCA413920449COL4A5c.452T>G (p.Ile151Ser)
c.128T>G (p.Ile43Ser)
c.467T>G (p.Ile156Ser)
Xg.108571825C>ACA517991581COL4A5c.453C>A (p.Ile151=)
c.129C>A (p.Ile43=)
c.468C>A (p.Ile156=)
 gnomAD v4
Xg.108571825C>GCA413920453COL4A5c.453C>G (p.Ile151Met)
c.129C>G (p.Ile43Met)
c.468C>G (p.Ile156Met)
Xg.108571825C>TCA517991582COL4A5c.453C>T (p.Ile151=)
c.129C>T (p.Ile43=)
c.468C>T (p.Ile156=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108571825_108571827delCA2695235600COL4A5c.453_455del (p.Pro152del)
c.129_131del (p.Pro44del)
c.468_470del (p.Pro157del)
Xg.108571827delCA2694439738COL4A5c.455del (p.Pro152GlnfsTer3)
c.131del (p.Pro44GlnfsTer3)
c.470del (p.Pro157GlnfsTer3)
 gnomAD v4
Xg.108571826C>ACA413920473COL4A5c.454C>A (p.Pro152Thr)
c.130C>A (p.Pro44Thr)
c.469C>A (p.Pro157Thr)
Xg.108571826C>GCA413920477COL4A5c.454C>G (p.Pro152Ala)
c.130C>G (p.Pro44Ala)
c.469C>G (p.Pro157Ala)
 gnomAD v4
Xg.108571826C>TCA413920480COL4A5c.454C>T (p.Pro152Ser)
c.130C>T (p.Pro44Ser)
c.469C>T (p.Pro157Ser)
Xg.108571827C>ACA413920489COL4A5c.455C>A (p.Pro152Gln)
c.131C>A (p.Pro44Gln)
c.470C>A (p.Pro157Gln)
 gnomAD v4
Xg.108571827C=CA2450680243COL4A5c.455C= (p.Pro152=)
c.131C= (p.Pro44=)
c.470C= (p.Pro157=)
Xg.108571827C>GCA10488472COL4A5c.455C>G (p.Pro152Arg)
c.131C>G (p.Pro44Arg)
c.470C>G (p.Pro157Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108571827C>TCA413920484COL4A5c.455C>T (p.Pro152Leu)
c.131C>T (p.Pro44Leu)
c.470C>T (p.Pro157Leu)
Xg.108571828A>CCA517991583COL4A5c.456A>C (p.Pro152=)
c.132A>C (p.Pro44=)
c.471A>C (p.Pro157=)
Xg.108571828A>GCA517991584COL4A5c.456A>G (p.Pro152=)
c.132A>G (p.Pro44=)
c.471A>G (p.Pro157=)
 gnomAD v4
Xg.108571828A>TCA517991585COL4A5c.456A>T (p.Pro152=)
c.132A>T (p.Pro44=)
c.471A>T (p.Pro157=)
Xg.108571829G>ACA413920496COL4A5c.457G>A (p.Gly153Ser)
c.133G>A (p.Gly45Ser)
c.472G>A (p.Gly158Ser)

Number of alleles fetched