Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108573623delCA2580100246COL4A5c.515del (p.Asn172IlefsTer?)
c.191del (p.Asn64IlefsTer?)
c.530del (p.Asn177IlefsTer?)
 ClinVar
Xg.108573623A>CCA413920972COL4A5c.515A>C (p.Asn172Thr)
c.191A>C (p.Asn64Thr)
c.530A>C (p.Asn177Thr)
Xg.108573623A>GCA413920974COL4A5c.515A>G (p.Asn172Ser)
c.191A>G (p.Asn64Ser)
c.530A>G (p.Asn177Ser)
Xg.108573623A>TCA413920973COL4A5c.515A>T (p.Asn172Ile)
c.191A>T (p.Asn64Ile)
c.530A>T (p.Asn177Ile)
Xg.108573623_108573640delCA2531530036COL4A5c.515_532del (p.Asn172_Pro178delinsThr)
c.191_208del (p.Asn64_Pro70delinsThr)
c.530_547del (p.Asn177_Pro183delinsThr)
Xg.108573624T>ACA413920977COL4A5c.516T>A (p.Asn172Lys)
c.192T>A (p.Asn64Lys)
c.531T>A (p.Asn177Lys)
Xg.108573624T>CCA517991629COL4A5c.516T>C (p.Asn172=)
c.192T>C (p.Asn64=)
c.531T>C (p.Asn177=)
Xg.108573624T>GCA413920980COL4A5c.516T>G (p.Asn172Lys)
c.192T>G (p.Asn64Lys)
c.531T>G (p.Asn177Lys)
Xg.108573625C>ACA413920983COL4A5c.517C>A (p.Pro173Thr)
c.193C>A (p.Pro65Thr)
c.532C>A (p.Pro178Thr)
Xg.108573625C>GCA413920984COL4A5c.517C>G (p.Pro173Ala)
c.193C>G (p.Pro65Ala)
c.532C>G (p.Pro178Ala)
Xg.108573625C>TCA413920986COL4A5c.517C>T (p.Pro173Ser)
c.193C>T (p.Pro65Ser)
c.532C>T (p.Pro178Ser)
Xg.108573626C>ACA413920987COL4A5c.518C>A (p.Pro173Gln)
c.194C>A (p.Pro65Gln)
c.533C>A (p.Pro178Gln)
 gnomAD v4
Xg.108573626C>GCA413920990COL4A5c.518C>G (p.Pro173Arg)
c.194C>G (p.Pro65Arg)
c.533C>G (p.Pro178Arg)
Xg.108573626C>TCA413920994COL4A5c.518C>T (p.Pro173Leu)
c.194C>T (p.Pro65Leu)
c.533C>T (p.Pro178Leu)
Xg.108573627A>CCA517991630COL4A5c.519A>C (p.Pro173=)
c.195A>C (p.Pro65=)
c.534A>C (p.Pro178=)
Xg.108573627A>GCA517991632COL4A5c.519A>G (p.Pro173=)
c.195A>G (p.Pro65=)
c.534A>G (p.Pro178=)
Xg.108573627A>TCA517991631COL4A5c.519A>T (p.Pro173=)
c.195A>T (p.Pro65=)
c.534A>T (p.Pro178=)
Xg.108573628G>ACA413920996COL4A5c.520G>A (p.Gly174Arg)
c.196G>A (p.Gly66Arg)
c.535G>A (p.Gly179Arg)
Xg.108573628G>CCA258255COL4A5c.520G>C (p.Gly174Arg)
c.196G>C (p.Gly66Arg)
c.535G>C (p.Gly179Arg)
 dbSNP
Xg.108573628G=CA2450680732COL4A5c.520G= (p.Gly174=)
c.196G= (p.Gly66=)
c.535G= (p.Gly179=)
Xg.108573628G>TCA413921000COL4A5c.520G>T (p.Gly174Ter)
c.196G>T (p.Gly66Ter)
c.535G>T (p.Gly179Ter)
 gnomAD v4
Xg.108573629G>ACA413921009COL4A5c.521G>A (p.Gly174Glu)
c.197G>A (p.Gly66Glu)
c.536G>A (p.Gly179Glu)
 COSMIC
Xg.108573629G>CCA413921006COL4A5c.521G>C (p.Gly174Ala)
c.197G>C (p.Gly66Ala)
c.536G>C (p.Gly179Ala)
Xg.108573629G>TCA413921003COL4A5c.521G>T (p.Gly174Val)
c.197G>T (p.Gly66Val)
c.536G>T (p.Gly179Val)
Xg.108573630A>CCA517991633COL4A5c.522A>C (p.Gly174=)
c.198A>C (p.Gly66=)
c.537A>C (p.Gly179=)
Xg.108573630A>GCA517991634COL4A5c.522A>G (p.Gly174=)
c.198A>G (p.Gly66=)
c.537A>G (p.Gly179=)
Xg.108573630A>TCA517991635COL4A5c.522A>T (p.Gly174=)
c.198A>T (p.Gly66=)
c.537A>T (p.Gly179=)
Xg.108573631T>ACA413921011COL4A5c.523T>A (p.Tyr175Asn)
c.199T>A (p.Tyr67Asn)
c.538T>A (p.Tyr180Asn)
Xg.108573631T>CCA413921015COL4A5c.523T>C (p.Tyr175His)
c.199T>C (p.Tyr67His)
c.538T>C (p.Tyr180His)
Xg.108573631T>GCA413921013COL4A5c.523T>G (p.Tyr175Asp)
c.199T>G (p.Tyr67Asp)
c.538T>G (p.Tyr180Asp)
Xg.108573632A=CA2450680738COL4A5c.524A= (p.Tyr175=)
c.200A= (p.Tyr67=)
c.539A= (p.Tyr180=)
Xg.108573632A>CCA413921018COL4A5c.524A>C (p.Tyr175Ser)
c.200A>C (p.Tyr67Ser)
c.539A>C (p.Tyr180Ser)
 dbSNP gnomAD v4
Xg.108573632A>GCA413921022COL4A5c.524A>G (p.Tyr175Cys)
c.200A>G (p.Tyr67Cys)
c.539A>G (p.Tyr180Cys)
Xg.108573632A>TCA413921020COL4A5c.524A>T (p.Tyr175Phe)
c.200A>T (p.Tyr67Phe)
c.539A>T (p.Tyr180Phe)
Xg.108573633T>ACA413921025COL4A5c.525T>A (p.Tyr175Ter)
c.201T>A (p.Tyr67Ter)
c.540T>A (p.Tyr180Ter)
Xg.108573633T>CCA517991636COL4A5c.525T>C (p.Tyr175=)
c.201T>C (p.Tyr67=)
c.540T>C (p.Tyr180=)
Xg.108573633T>GCA413921027COL4A5c.525T>G (p.Tyr175Ter)
c.201T>G (p.Tyr67Ter)
c.540T>G (p.Tyr180Ter)
Xg.108573636_108573644delCA2694411165COL4A5c.528_536del (p.Gly177_Pro179del)
c.204_212del (p.Gly69_Pro71del)
c.543_551del (p.Gly182_Pro184del)
 gnomAD v4
Xg.108573634C>ACA413921037COL4A5c.526C>A (p.Pro176Thr)
c.202C>A (p.Pro68Thr)
c.541C>A (p.Pro181Thr)
 gnomAD v4
Xg.108573634C=CA2450680742COL4A5c.526C= (p.Pro176=)
c.202C= (p.Pro68=)
c.541C= (p.Pro181=)
Xg.108573634C>GCA413921040COL4A5c.526C>G (p.Pro176Ala)
c.202C>G (p.Pro68Ala)
c.541C>G (p.Pro181Ala)
Xg.108573634C>TCA413921043COL4A5c.526C>T (p.Pro176Ser)
c.202C>T (p.Pro68Ser)
c.541C>T (p.Pro181Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.108573635C>ACA413921044COL4A5c.527C>A (p.Pro176Gln)
c.203C>A (p.Pro68Gln)
c.542C>A (p.Pro181Gln)
 gnomAD v4
Xg.108573635C>GCA413921046COL4A5c.527C>G (p.Pro176Arg)
c.203C>G (p.Pro68Arg)
c.542C>G (p.Pro181Arg)
Xg.108573635C>TCA413921048COL4A5c.527C>T (p.Pro176Leu)
c.203C>T (p.Pro68Leu)
c.542C>T (p.Pro181Leu)
Xg.108573636A=CA2450680746COL4A5c.528A= (p.Pro176=)
c.204A= (p.Pro68=)
c.543A= (p.Pro181=)
Xg.108573636A>CCA517991637COL4A5c.528A>C (p.Pro176=)
c.204A>C (p.Pro68=)
c.543A>C (p.Pro181=)
Xg.108573636A>GCA10488479COL4A5c.528A>G (p.Pro176=)
c.204A>G (p.Pro68=)
c.543A>G (p.Pro181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573636A>TCA517991638COL4A5c.528A>T (p.Pro176=)
c.204A>T (p.Pro68=)
c.543A>T (p.Pro181=)
Xg.108573637G>ACA413921054COL4A5c.529G>A (p.Gly177Ser)
c.205G>A (p.Gly69Ser)
c.544G>A (p.Gly182Ser)
Xg.108573637G>CCA258259COL4A5c.529G>C (p.Gly177Arg)
c.205G>C (p.Gly69Arg)
c.544G>C (p.Gly182Arg)
 dbSNP
Xg.108573637G=CA2450680747COL4A5c.529G= (p.Gly177=)
c.205G= (p.Gly69=)
c.544G= (p.Gly182=)
Xg.108573637G>TCA258257COL4A5c.529G>T (p.Gly177Cys)
c.205G>T (p.Gly69Cys)
c.544G>T (p.Gly182Cys)
 ClinVar dbSNP
Xg.108573638G>ACA413921068COL4A5c.530G>A (p.Gly177Asp)
c.206G>A (p.Gly69Asp)
c.545G>A (p.Gly182Asp)
 ClinVar dbSNP
Xg.108573638G>CCA413921062COL4A5c.530G>C (p.Gly177Ala)
c.206G>C (p.Gly69Ala)
c.545G>C (p.Gly182Ala)
 ClinVar
Xg.108573638G=CA2450680751COL4A5c.530G= (p.Gly177=)
c.206G= (p.Gly69=)
c.545G= (p.Gly182=)
Xg.108573638G>TCA413921066COL4A5c.530G>T (p.Gly177Val)
c.206G>T (p.Gly69Val)
c.545G>T (p.Gly182Val)
Xg.108573639T>ACA517991639COL4A5c.531T>A (p.Gly177=)
c.207T>A (p.Gly69=)
c.546T>A (p.Gly182=)
Xg.108573639T>CCA517991640COL4A5c.531T>C (p.Gly177=)
c.207T>C (p.Gly69=)
c.546T>C (p.Gly182=)
Xg.108573639T>GCA517991641COL4A5c.531T>G (p.Gly177=)
c.207T>G (p.Gly69=)
c.546T>G (p.Gly182=)
Xg.108573639_108573640delinsTCCA2450680755COL4A5c.531_532delinsTC (p.Gly177=)
c.207_208delinsTC (p.Gly69=)
c.546_547delinsTC (p.Gly182=)
Xg.108573640C>ACA413921071COL4A5c.532C>A (p.Pro178Thr)
c.208C>A (p.Pro70Thr)
c.547C>A (p.Pro183Thr)
 gnomAD v4
Xg.108573640C=CA2450680765COL4A5c.532C= (p.Pro178=)
c.208C= (p.Pro70=)
c.547C= (p.Pro183=)
Xg.108573640C>GCA413921073COL4A5c.532C>G (p.Pro178Ala)
c.208C>G (p.Pro70Ala)
c.547C>G (p.Pro183Ala)
 gnomAD v4
Xg.108573640C>TCA413921076COL4A5c.532C>T (p.Pro178Ser)
c.208C>T (p.Pro70Ser)
c.547C>T (p.Pro183Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108573641delCA258261COL4A5c.533del (p.Pro178LeufsTer25)
c.209del (p.Pro70LeufsTer25)
c.548del (p.Pro183LeufsTer25)
 dbSNP gnomAD v4
Xg.108573641C>ACA413921081COL4A5c.533C>A (p.Pro178His)
c.209C>A (p.Pro70His)
c.548C>A (p.Pro183His)
Xg.108573641C>GCA413921083COL4A5c.533C>G (p.Pro178Arg)
c.209C>G (p.Pro70Arg)
c.548C>G (p.Pro183Arg)
Xg.108573641C>TCA413921086COL4A5c.533C>T (p.Pro178Leu)
c.209C>T (p.Pro70Leu)
c.548C>T (p.Pro183Leu)
 dbSNP
Xg.108573642T>ACA517991642COL4A5c.534T>A (p.Pro178=)
c.210T>A (p.Pro70=)
c.549T>A (p.Pro183=)
Xg.108573642T>CCA517991644COL4A5c.534T>C (p.Pro178=)
c.210T>C (p.Pro70=)
c.549T>C (p.Pro183=)
Xg.108573642T>GCA517991643COL4A5c.534T>G (p.Pro178=)
c.210T>G (p.Pro70=)
c.549T>G (p.Pro183=)
Xg.108573643C>ACA413921087COL4A5c.535C>A (p.Pro179Thr)
c.211C>A (p.Pro71Thr)
c.550C>A (p.Pro184Thr)
 dbSNP
Xg.108573643C=CA2450680768COL4A5c.535C= (p.Pro179=)
c.211C= (p.Pro71=)
c.550C= (p.Pro184=)
Xg.108573643C>GCA10488480COL4A5c.535C>G (p.Pro179Ala)
c.211C>G (p.Pro71Ala)
c.550C>G (p.Pro184Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108573643C>TCA413921089COL4A5c.535C>T (p.Pro179Ser)
c.211C>T (p.Pro71Ser)
c.550C>T (p.Pro184Ser)
 gnomAD v4 COSMIC
Xg.108573643_108573644delCA2518470192COL4A5c.535_536del (p.Pro179TrpfsTer?)
c.211_212del (p.Pro71TrpfsTer?)
c.550_551del (p.Pro184TrpfsTer?)
Xg.108573644C>ACA413921096COL4A5c.536C>A (p.Pro179His)
c.212C>A (p.Pro71His)
c.551C>A (p.Pro184His)
 gnomAD v4
Xg.108573644C=CA2450680769COL4A5c.536C= (p.Pro179=)
c.212C= (p.Pro71=)
c.551C= (p.Pro184=)
Xg.108573644C>GCA413921093COL4A5c.536C>G (p.Pro179Arg)
c.212C>G (p.Pro71Arg)
c.551C>G (p.Pro184Arg)
Xg.108573644C>TCA413921091COL4A5c.536C>T (p.Pro179Leu)
c.212C>T (p.Pro71Leu)
c.551C>T (p.Pro184Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573645T>ACA517991645COL4A5c.537T>A (p.Pro179=)
c.213T>A (p.Pro71=)
c.552T>A (p.Pro184=)
Xg.108573645T>CCA517991646COL4A5c.537T>C (p.Pro179=)
c.213T>C (p.Pro71=)
c.552T>C (p.Pro184=)
Xg.108573645T>GCA517991647COL4A5c.537T>G (p.Pro179=)
c.213T>G (p.Pro71=)
c.552T>G (p.Pro184=)
Xg.108573646G>ACA258262COL4A5c.538G>A (p.Gly180Arg)
c.214G>A (p.Gly72Arg)
c.553G>A (p.Gly185Arg)
 ClinVar dbSNP
Xg.108573646G>CCA413921103COL4A5c.538G>C (p.Gly180Arg)
c.214G>C (p.Gly72Arg)
c.553G>C (p.Gly185Arg)
Xg.108573646G=CA2450680772COL4A5c.538G= (p.Gly180=)
c.214G= (p.Gly72=)
c.553G= (p.Gly185=)
Xg.108573646G>TCA413921106COL4A5c.538G>T (p.Gly180Ter)
c.214G>T (p.Gly72Ter)
c.553G>T (p.Gly185Ter)
Xg.108573646_108573647insACA2554550267COL4A5c.538_539insA (p.Gly180GlufsTer?)
c.214_215insA (p.Gly72GlufsTer?)
c.553_554insA (p.Gly185GlufsTer?)
Xg.108573647G>ACA413921110COL4A5c.539G>A (p.Gly180Glu)
c.215G>A (p.Gly72Glu)
c.554G>A (p.Gly185Glu)
 ClinVar dbSNP gnomAD v4
Xg.108573647G>CCA413921112COL4A5c.539G>C (p.Gly180Ala)
c.215G>C (p.Gly72Ala)
c.554G>C (p.Gly185Ala)
Xg.108573647G>TCA413921114COL4A5c.539G>T (p.Gly180Val)
c.215G>T (p.Gly72Val)
c.554G>T (p.Gly185Val)
Xg.108573648A>CCA517991650COL4A5c.540A>C (p.Gly180=)
c.216A>C (p.Gly72=)
c.555A>C (p.Gly185=)
Xg.108573648A>GCA517991648COL4A5c.540A>G (p.Gly180=)
c.216A>G (p.Gly72=)
c.555A>G (p.Gly185=)
 gnomAD v4
Xg.108573648A>TCA517991649COL4A5c.540A>T (p.Gly180=)
c.216A>T (p.Gly72=)
c.555A>T (p.Gly185=)
Xg.108573649A>CCA413921119COL4A5c.541A>C (p.Ile181Leu)
c.217A>C (p.Ile73Leu)
c.556A>C (p.Ile186Leu)
Xg.108573649A>GCA413921122COL4A5c.541A>G (p.Ile181Val)
c.217A>G (p.Ile73Val)
c.556A>G (p.Ile186Val)
Xg.108573649A>TCA413921124COL4A5c.541A>T (p.Ile181Leu)
c.217A>T (p.Ile73Leu)
c.556A>T (p.Ile186Leu)
Xg.108573649_108573650insCCA2545068648COL4A5c.541_542insC (p.Ile181ThrfsTer?)
c.217_218insC (p.Ile73ThrfsTer?)
c.556_557insC (p.Ile186ThrfsTer?)
Xg.108573650T>ACA413921126COL4A5c.542T>A (p.Ile181Lys)
c.218T>A (p.Ile73Lys)
c.557T>A (p.Ile186Lys)
Xg.108573650T>CCA413921129COL4A5c.542T>C (p.Ile181Thr)
c.218T>C (p.Ile73Thr)
c.557T>C (p.Ile186Thr)
Xg.108573650T>GCA413921131COL4A5c.542T>G (p.Ile181Arg)
c.218T>G (p.Ile73Arg)
c.557T>G (p.Ile186Arg)
Xg.108573650_108573657delinsTACAAGTACA2450680774COL4A5c.542_546+3delinsTACAAGTA
c.218_222+3delinsTACAAGTA
c.557_561+3delinsTACAAGTA
Xg.108573651A>CCA517991651COL4A5c.543A>C (p.Ile181=)
c.219A>C (p.Ile73=)
c.558A>C (p.Ile186=)
Xg.108573651A>GCA413921133COL4A5c.543A>G (p.Ile181Met)
c.219A>G (p.Ile73Met)
c.558A>G (p.Ile186Met)
 gnomAD v4
Xg.108573651A>TCA517991652COL4A5c.543A>T (p.Ile181=)
c.219A>T (p.Ile73=)
c.558A>T (p.Ile186=)
Xg.108573652_108573658delCA891843908COL4A5c.544_546+4del
c.220_222+4del
c.559_561+4del
Xg.108573652C>ACA413921142COL4A5c.544C>A (p.Gln182Lys)
c.220C>A (p.Gln74Lys)
c.559C>A (p.Gln187Lys)
 gnomAD v4
Xg.108573652C=CA2450680775COL4A5c.544C= (p.Gln182=)
c.220C= (p.Gln74=)
c.559C= (p.Gln187=)
Xg.108573652C>GCA413921137COL4A5c.544C>G (p.Gln182Glu)
c.220C>G (p.Gln74Glu)
c.559C>G (p.Gln187Glu)
Xg.108573652C>TCA413921140COL4A5c.544C>T (p.Gln182Ter)
c.220C>T (p.Gln74Ter)
c.559C>T (p.Gln187Ter)
 gnomAD v4
Xg.108573652_108573656delinsCAAGTCA2450680776COL4A5c.544_546+2delinsCAAGT
c.220_222+2delinsCAAGT
c.559_561+2delinsCAAGT
Xg.108573652_108573659delCA2526418618COL4A5c.544_546+5del
c.220_222+5del
c.559_561+5del
Xg.108573653A=CA2450680777COL4A5c.545A= (p.Gln182=)
c.221A= (p.Gln74=)
c.560A= (p.Gln187=)
Xg.108573653A>CCA413921145COL4A5c.545A>C (p.Gln182Pro)
c.221A>C (p.Gln74Pro)
c.560A>C (p.Gln187Pro)
Xg.108573653A>GCA413921147COL4A5c.545A>G (p.Gln182Arg)
c.221A>G (p.Gln74Arg)
c.560A>G (p.Gln187Arg)
Xg.108573653A>TCA10488481COL4A5c.545A>T (p.Gln182Leu)
c.221A>T (p.Gln74Leu)
c.560A>T (p.Gln187Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573654delCA2739290559COL4A5c.546del (p.Gly183AlafsTer20)
c.222del (p.Gly75AlafsTer20)
c.561del (p.Gly188AlafsTer20)
Xg.108573658_108573661delCA658823829COL4A5c.546+4_546+7del
c.222+4_222+7del
c.561+4_561+7del
 ClinVar dbSNP
Xg.108573654A=CA2450680778COL4A5c.546A= (p.Gln182=)
c.222A= (p.Gln74=)
c.561A= (p.Gln187=)
Xg.108573654A>CCA413921152COL4A5c.546A>C (p.Gln182His)
c.222A>C (p.Gln74His)
c.561A>C (p.Gln187His)
Xg.108573654A>GCA517991653COL4A5c.546A>G (p.Gln182=)
c.222A>G (p.Gln74=)
c.561A>G (p.Gln187=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573654A>TCA413921154COL4A5c.546A>T (p.Gln182His)
c.222A>T (p.Gln74His)
c.561A>T (p.Gln187His)
Xg.108573655G>ACA258265COL4A5c.546+1G>A (n.546+1G>A)
c.222+1G>A (n.222+1G>A)
c.561+1G>A (n.561+1G>A)
 ClinVar dbSNP gnomAD v4
Xg.108573655G>CCA413921157COL4A5c.546+1G>C (n.546+1G>C)
c.222+1G>C (n.222+1G>C)
c.561+1G>C (n.561+1G>C)
Xg.108573655G=CA2450680779COL4A5c.546+1G= (n.546+1G=)
c.222+1G= (n.222+1G=)
c.561+1G= (n.561+1G=)
Xg.108573655G>TCA413921160COL4A5c.546+1G>T (n.546+1G>T)
c.222+1G>T (n.222+1G>T)
c.561+1G>T (n.561+1G>T)
Xg.108573656T>ACA413921163COL4A5c.546+2T>A (n.546+2T>A)
c.222+2T>A (n.222+2T>A)
c.561+2T>A (n.561+2T>A)
Xg.108573656T>CCA413921165COL4A5c.546+2T>C (n.546+2T>C)
c.222+2T>C (n.222+2T>C)
c.561+2T>C (n.561+2T>C)
Xg.108573656T>GCA413921167COL4A5c.546+2T>G (n.546+2T>G)
c.222+2T>G (n.222+2T>G)
c.561+2T>G (n.561+2T>G)
 ClinVar dbSNP
Xg.108573656T=CA2450680781COL4A5c.546+2T= (n.546+2T=)
c.222+2T= (n.222+2T=)
c.561+2T= (n.561+2T=)
Xg.108573656dupCA658823830COL4A5c.546+2dup (n.546+2dup)
c.222+2dup (n.222+2dup)
c.561+2dup (n.561+2dup)
 ClinVar dbSNP
Xg.108573656_108573657delinsTACA2450680780COL4A5c.546+2_546+3delinsTA (n.546+2_546+3delinsTA)
c.222+2_222+3delinsTA (n.222+2_222+3delinsTA)
c.561+2_561+3delinsTA (n.561+2_561+3delinsTA)
Xg.108573657A=CA2450680782COL4A5c.546+3A= (n.546+3A=)
c.222+3A= (n.222+3A=)
c.561+3A= (n.561+3A=)
Xg.108573657A>GCA2694411172COL4A5c.546+3A>G (n.546+3A>G)
c.222+3A>G (n.222+3A>G)
c.561+3A>G (n.561+3A>G)
 gnomAD v4
Xg.108573658delCA2450680783COL4A5c.546+4del (n.546+4del)
c.222+4del (n.222+4del)
c.561+4del (n.561+4del)
 ClinVar dbSNP
Xg.108573657_108573658insTCA258266COL4A5c.546+3_546+4insT (n.546+3_546+4insT)
c.222+3_222+4insT (n.222+3_222+4insT)
c.561+3_561+4insT (n.561+3_561+4insT)
 dbSNP
Xg.108573658A>GCA2579675877COL4A5c.546+4A>G (n.546+4A>G)
c.222+4A>G (n.222+4A>G)
c.561+4A>G (n.561+4A>G)
 ClinVar gnomAD v4
Xg.108573659G>CCA2695235180COL4A5c.546+5G>C (n.546+5G>C)
c.222+5G>C (n.222+5G>C)
c.561+5G>C (n.561+5G>C)
Xg.108573659G>TCA915940910COL4A5c.546+5G>T (n.546+5G>T)
c.222+5G>T (n.222+5G>T)
c.561+5G>T (n.561+5G>T)
Xg.108573660T>ACA2573159175COL4A5c.546+6T>A (n.546+6T>A)
c.222+6T>A (n.222+6T>A)
c.561+6T>A (n.561+6T>A)
 ClinVar dbSNP
Xg.108573660T>CCA2694411176COL4A5c.546+6T>C (n.546+6T>C)
c.222+6T>C (n.222+6T>C)
c.561+6T>C (n.561+6T>C)
 gnomAD v4
Xg.108573661A>GCA2694411178COL4A5c.546+7A>G (n.546+7A>G)
c.222+7A>G (n.222+7A>G)
c.561+7A>G (n.561+7A>G)
 gnomAD v4
Xg.108573662T>CCA2694411179COL4A5c.546+8T>C (n.546+8T>C)
c.222+8T>C (n.222+8T>C)
c.561+8T>C (n.561+8T>C)
 gnomAD v4
Xg.108573663C>ACA10488482COL4A5c.546+9C>A (n.546+9C>A)
c.222+9C>A (n.222+9C>A)
c.561+9C>A (n.561+9C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573663C=CA2450680784COL4A5c.546+9C= (n.546+9C=)
c.222+9C= (n.222+9C=)
c.561+9C= (n.561+9C=)
Xg.108573663C>TCA2694411186COL4A5c.546+9C>T (n.546+9C>T)
c.222+9C>T (n.222+9C>T)
c.561+9C>T (n.561+9C>T)
 gnomAD v4
Xg.108573664delCA2694411182COL4A5c.546+10del (n.546+10del)
c.222+10del (n.222+10del)
c.561+10del (n.561+10del)
 gnomAD v4
Xg.108573664C>TCA2694411190COL4A5c.546+10C>T (n.546+10C>T)
c.222+10C>T (n.222+10C>T)
c.561+10C>T (n.561+10C>T)
 gnomAD v4
Xg.108573665A=CA2450680785COL4A5c.546+11A= (n.546+11A=)
c.222+11A= (n.222+11A=)
c.561+11A= (n.561+11A=)
Xg.108573665A>GCA869820158COL4A5c.546+11A>G (n.546+11A>G)
c.222+11A>G (n.222+11A>G)
c.561+11A>G (n.561+11A>G)
 dbSNP gnomAD v4
Xg.108573666G>ACA2694411191COL4A5c.546+12G>A (n.546+12G>A)
c.222+12G>A (n.222+12G>A)
c.561+12G>A (n.561+12G>A)
 gnomAD v4
Xg.108573669A=CA2450680786COL4A5c.546+15A= (n.546+15A=)
c.222+15A= (n.222+15A=)
c.561+15A= (n.561+15A=)
Xg.108573669A>GCA2822894009COL4A5c.546+15A>G (n.546+15A>G)
c.222+15A>G (n.222+15A>G)
c.561+15A>G (n.561+15A>G)
Xg.108573669A>TCA10488483COL4A5c.546+15A>T (n.546+15A>T)
c.222+15A>T (n.222+15A>T)
c.561+15A>T (n.561+15A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573671_108573672insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCACA2694411199COL4A5c.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.546+17_546+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA)
c.222+17_222+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.222+17_222+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA)
c.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA (n.561+17_561+18insACATAATTATACTACCTGGTTCACCCTAAAAGAAGCCA)
 gnomAD v4
Xg.108573672T>CCA2694411198COL4A5c.546+18T>C (n.546+18T>C)
c.222+18T>C (n.222+18T>C)
c.561+18T>C (n.561+18T>C)
 gnomAD v4
Xg.108573672T>GCA10488484COL4A5c.546+18T>G (n.546+18T>G)
c.222+18T>G (n.222+18T>G)
c.561+18T>G (n.561+18T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108573672T=CA2450680787COL4A5c.546+18T= (n.546+18T=)
c.222+18T= (n.222+18T=)
c.561+18T= (n.561+18T=)
Xg.108573673T>CCA2694411202COL4A5c.546+19T>C (n.546+19T>C)
c.222+19T>C (n.222+19T>C)
c.561+19T>C (n.561+19T>C)
 gnomAD v4
Xg.108573674C>ACA2694411203COL4A5c.546+20C>A (n.546+20C>A)
c.222+20C>A (n.222+20C>A)
c.561+20C>A (n.561+20C>A)
 gnomAD v4
Xg.108573675T>ACA2694411207COL4A5c.546+21T>A (n.546+21T>A)
c.222+21T>A (n.222+21T>A)
c.561+21T>A (n.561+21T>A)
 gnomAD v4
Xg.108573675T>CCA643749611COL4A5c.546+21T>C (n.546+21T>C)
c.222+21T>C (n.222+21T>C)
c.561+21T>C (n.561+21T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108573675T=CA2450680788COL4A5c.546+21T= (n.546+21T=)
c.222+21T= (n.222+21T=)
c.561+21T= (n.561+21T=)
Xg.108573681dupCA2694411205COL4A5c.546+27dup (n.546+27dup)
c.222+27dup (n.222+27dup)
c.561+27dup (n.561+27dup)
 gnomAD v4
Xg.108573680_108573681dupCA2822894013COL4A5c.546+26_546+27dup (n.546+26_546+27dup)
c.222+26_222+27dup (n.222+26_222+27dup)
c.561+26_561+27dup (n.561+26_561+27dup)
Xg.108573681delCA2694411206COL4A5c.546+27del (n.546+27del)
c.222+27del (n.222+27del)
c.561+27del (n.561+27del)
 gnomAD v4
Xg.108573676T>CCA2694411213COL4A5c.546+22T>C (n.546+22T>C)
c.222+22T>C (n.222+22T>C)
c.561+22T>C (n.561+22T>C)
 gnomAD v4
Xg.108573677T>CCA10488485COL4A5c.546+23T>C (n.546+23T>C)
c.222+23T>C (n.222+23T>C)
c.561+23T>C (n.561+23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108573677T=CA2450680789COL4A5c.546+23T= (n.546+23T=)
c.222+23T= (n.222+23T=)
c.561+23T= (n.561+23T=)
Xg.108573681T>CCA2694411216COL4A5c.546+27T>C (n.546+27T>C)
c.222+27T>C (n.222+27T>C)
c.561+27T>C (n.561+27T>C)
 gnomAD v4
Xg.108573682delCA2694411217COL4A5c.546+28del (n.546+28del)
c.222+28del (n.222+28del)
c.561+28del (n.561+28del)
 gnomAD v4
Xg.108573683C>ACA2579675878COL4A5c.546+29C>A (n.546+29C>A)
c.222+29C>A (n.222+29C>A)
c.561+29C>A (n.561+29C>A)
 gnomAD v4
Xg.108573683C>TCA2694411219COL4A5c.546+29C>T (n.546+29C>T)
c.222+29C>T (n.222+29C>T)
c.561+29C>T (n.561+29C>T)
 gnomAD v4
Xg.108573685A=CA2450680790COL4A5c.546+31A= (n.546+31A=)
c.222+31A= (n.222+31A=)
c.561+31A= (n.561+31A=)
Xg.108573685A>GCA10488486COL4A5c.546+31A>G (n.546+31A>G)
c.222+31A>G (n.222+31A>G)
c.561+31A>G (n.561+31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573687A=CA2450680791COL4A5c.546+33A= (n.546+33A=)
c.222+33A= (n.222+33A=)
c.561+33A= (n.561+33A=)
Xg.108573687A>GCA10488487COL4A5c.546+33A>G (n.546+33A>G)
c.222+33A>G (n.222+33A>G)
c.561+33A>G (n.561+33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108573687A>TCA2694411225COL4A5c.546+33A>T (n.546+33A>T)
c.222+33A>T (n.222+33A>T)
c.561+33A>T (n.561+33A>T)
 gnomAD v4
Xg.108573689T>CCA10488488COL4A5c.546+35T>C (n.546+35T>C)
c.222+35T>C (n.222+35T>C)
c.561+35T>C (n.561+35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573689T=CA2450680792COL4A5c.546+35T= (n.546+35T=)
c.222+35T= (n.222+35T=)
c.561+35T= (n.561+35T=)
Xg.108573690G>ACA2549835206COL4A5c.546+36G>A (n.546+36G>A)
c.222+36G>A (n.222+36G>A)
c.561+36G>A (n.561+36G>A)
Xg.108573690G>CCA2571076488COL4A5c.546+36G>C (n.546+36G>C)
c.222+36G>C (n.222+36G>C)
c.561+36G>C (n.561+36G>C)
Xg.108573690G>TCA2694411232COL4A5c.546+36G>T (n.546+36G>T)
c.222+36G>T (n.222+36G>T)
c.561+36G>T (n.561+36G>T)
 gnomAD v4
Xg.108573691A=CA2450680793COL4A5c.546+37A= (n.546+37A=)
c.222+37A= (n.222+37A=)
c.561+37A= (n.561+37A=)
Xg.108573691A>GCA334179540COL4A5c.546+37A>G (n.546+37A>G)
c.222+37A>G (n.222+37A>G)
c.561+37A>G (n.561+37A>G)
 dbSNP gnomAD v4
Xg.108573693T>ACA2579675879COL4A5c.546+39T>A (n.546+39T>A)
c.222+39T>A (n.222+39T>A)
c.561+39T>A (n.561+39T>A)
Xg.108573696A=CA2450680794COL4A5c.546+42A= (n.546+42A=)
c.222+42A= (n.222+42A=)
c.561+42A= (n.561+42A=)
Xg.108573696A>GCA10488489COL4A5c.546+42A>G (n.546+42A>G)
c.222+42A>G (n.222+42A>G)
c.561+42A>G (n.561+42A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573697C>ACA2579675880COL4A5c.546+43C>A (n.546+43C>A)
c.222+43C>A (n.222+43C>A)
c.561+43C>A (n.561+43C>A)
 gnomAD v4
Xg.108573698C>ACA2694411239COL4A5c.546+44C>A (n.546+44C>A)
c.222+44C>A (n.222+44C>A)
c.561+44C>A (n.561+44C>A)
 gnomAD v4
Xg.108573699A=CA2450680795COL4A5c.546+45A= (n.546+45A=)
c.222+45A= (n.222+45A=)
c.561+45A= (n.561+45A=)
Xg.108573699A>GCA2579675881COL4A5c.546+45A>G (n.546+45A>G)
c.222+45A>G (n.222+45A>G)
c.561+45A>G (n.561+45A>G)
Xg.108573700G>ACA2822894016COL4A5c.546+46G>A (n.546+46G>A)
c.222+46G>A (n.222+46G>A)
c.561+46G>A (n.561+46G>A)
Xg.108573702_108573703insAAATGATCTGAACA10488490COL4A5c.546+48_546+49insAAATGATCTGAA (n.546+48_546+49insAAATGATCTGAA)
c.222+48_222+49insAAATGATCTGAA (n.222+48_222+49insAAATGATCTGAA)
c.561+48_561+49insAAATGATCTGAA (n.561+48_561+49insAAATGATCTGAA)
 dbSNP ExAC
Xg.108573701A=CA2450680796COL4A5c.546+47A= (n.546+47A=)
c.222+47A= (n.222+47A=)
c.561+47A= (n.561+47A=)
Xg.108573701A>GCA643749612COL4A5c.546+47A>G (n.546+47A>G)
c.222+47A>G (n.222+47A>G)
c.561+47A>G (n.561+47A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108573701_108573702insCACACCCAACACCA2822894017COL4A5c.546+47_546+48insCACACCCAACAC (n.546+47_546+48insCACACCCAACAC)
c.222+47_222+48insCACACCCAACAC (n.222+47_222+48insCACACCCAACAC)
c.561+47_561+48insCACACCCAACAC (n.561+47_561+48insCACACCCAACAC)
Xg.108573704A>TCA2694411241COL4A5c.546+50A>T (n.546+50A>T)
c.222+50A>T (n.222+50A>T)
c.561+50A>T (n.561+50A>T)
 gnomAD v4
Xg.108573705T>CCA2822894018COL4A5c.546+51T>C (n.546+51T>C)
c.222+51T>C (n.222+51T>C)
c.561+51T>C (n.561+51T>C)
Xg.108573706T>CCA2579675882COL4A5c.546+52T>C (n.546+52T>C)
c.222+52T>C (n.222+52T>C)
c.561+52T>C (n.561+52T>C)
Xg.108573707A>TCA2579675883COL4A5c.546+53A>T (n.546+53A>T)
c.222+53A>T (n.222+53A>T)
c.561+53A>T (n.561+53A>T)
Xg.108573708C>ACA2579675884COL4A5c.546+54C>A (n.546+54C>A)
c.222+54C>A (n.222+54C>A)
c.561+54C>A (n.561+54C>A)
 gnomAD v4
Xg.108573708C=CA2450680797COL4A5c.546+54C= (n.546+54C=)
c.222+54C= (n.222+54C=)
c.561+54C= (n.561+54C=)
Xg.108573708C>TCA334179545COL4A5c.546+54C>T (n.546+54C>T)
c.222+54C>T (n.222+54C>T)
c.561+54C>T (n.561+54C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108573709A>CCA2694411246COL4A5c.546+55A>C (n.546+55A>C)
c.222+55A>C (n.222+55A>C)
c.561+55A>C (n.561+55A>C)
 gnomAD v4
Xg.108573710A>GCA2694411248COL4A5c.546+56A>G (n.546+56A>G)
c.222+56A>G (n.222+56A>G)
c.561+56A>G (n.561+56A>G)
 gnomAD v4
Xg.108573711C>ACA2579675885COL4A5c.546+57C>A (n.546+57C>A)
c.222+57C>A (n.222+57C>A)
c.561+57C>A (n.561+57C>A)
 gnomAD v4
Xg.108573712A>CCA2694411249COL4A5c.546+58A>C (n.546+58A>C)
c.222+58A>C (n.222+58A>C)
c.561+58A>C (n.561+58A>C)
 gnomAD v4
Xg.108573714T>CCA2694411250COL4A5c.546+60T>C (n.546+60T>C)
c.222+60T>C (n.222+60T>C)
c.561+60T>C (n.561+60T>C)
 dbSNP gnomAD v4
Xg.108573715C>ACA2579675886COL4A5c.546+61C>A (n.546+61C>A)
c.222+61C>A (n.222+61C>A)
c.561+61C>A (n.561+61C>A)
 gnomAD v4
Xg.108573715C=CA2450680798COL4A5c.546+61C= (n.546+61C=)
c.222+61C= (n.222+61C=)
c.561+61C= (n.561+61C=)
Xg.108573715C>TCA869820159COL4A5c.546+61C>T (n.546+61C>T)
c.222+61C>T (n.222+61C>T)
c.561+61C>T (n.561+61C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108573716C>ACA2694411257COL4A5c.546+62C>A (n.546+62C>A)
c.222+62C>A (n.222+62C>A)
c.561+62C>A (n.561+62C>A)
 gnomAD v4
Xg.108573717C>TCA2694411260COL4A5c.546+63C>T (n.546+63C>T)
c.222+63C>T (n.222+63C>T)
c.561+63C>T (n.561+63C>T)
 gnomAD v4
Xg.108573718T>CCA2694411261COL4A5c.546+64T>C (n.546+64T>C)
c.222+64T>C (n.222+64T>C)
c.561+64T>C (n.561+64T>C)
 gnomAD v4
Xg.108573719C>ACA2579675887COL4A5c.546+65C>A (n.546+65C>A)
c.222+65C>A (n.222+65C>A)
c.561+65C>A (n.561+65C>A)
Xg.108573719C>TCA2694411263COL4A5c.546+65C>T (n.546+65C>T)
c.222+65C>T (n.222+65C>T)
c.561+65C>T (n.561+65C>T)
 gnomAD v4
Xg.108573721A>GCA2579675888COL4A5c.546+67A>G (n.546+67A>G)
c.222+67A>G (n.222+67A>G)
c.561+67A>G (n.561+67A>G)
Xg.108573722C>ACA2579675889COL4A5c.546+68C>A (n.546+68C>A)
c.222+68C>A (n.222+68C>A)
c.561+68C>A (n.561+68C>A)
 gnomAD v4
Xg.108573723C>ACA2694411265COL4A5c.546+69C>A (n.546+69C>A)
c.222+69C>A (n.222+69C>A)
c.561+69C>A (n.561+69C>A)
 gnomAD v4

Number of alleles fetched