Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched