Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108573623_108573640delCA2531530036COL4A5c.515_532del (p.Asn172_Pro178delinsThr)
c.191_208del (p.Asn64_Pro70delinsThr)
c.530_547del (p.Asn177_Pro183delinsThr)
Xg.108573636_108573644delCA2694411165COL4A5c.528_536del (p.Gly177_Pro179del)
c.204_212del (p.Gly69_Pro71del)
c.543_551del (p.Gly182_Pro184del)
gnomAD v4
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

Number of alleles fetched