Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108575911dupCA258269COL4A5c.548dup
c.224dup
c.563dup
 dbSNP
Xg.108575911delCA2694411477COL4A5c.548del
c.224del
c.563del
 gnomAD v4
Xg.108575911G>ACA413921892COL4A5c.548G>A (p.Gly183Asp)
c.224G>A (p.Gly75Asp)
c.563G>A (p.Gly188Asp)
 ClinVar dbSNP gnomAD v4
Xg.108575911G>CCA413921893COL4A5c.548G>C (p.Gly183Ala)
c.224G>C (p.Gly75Ala)
c.563G>C (p.Gly188Ala)
Xg.108575911G=CA2450681476COL4A5c.548G= (p.Gly183=)
c.224G= (p.Gly75=)
c.563G= (p.Gly188=)
Xg.108575911G>TCA258270COL4A5c.548G>T (p.Gly183Val)
c.224G>T (p.Gly75Val)
c.563G>T (p.Gly188Val)
 dbSNP gnomAD v4
Xg.108575912C>ACA517991655COL4A5c.549C>A (p.Gly183=)
c.225C>A (p.Gly75=)
c.564C>A (p.Gly188=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108575912C=CA2450681477COL4A5c.549C= (p.Gly183=)
c.225C= (p.Gly75=)
c.564C= (p.Gly188=)
Xg.108575912C>GCA517991656COL4A5c.549C>G (p.Gly183=)
c.225C>G (p.Gly75=)
c.564C>G (p.Gly188=)
Xg.108575912C>TCA517991657COL4A5c.549C>T (p.Gly183=)
c.225C>T (p.Gly75=)
c.564C>T (p.Gly188=)
 gnomAD v4 COSMIC COSMIC
Xg.108575913dupCA258273COL4A5c.550dup (p.Leu184ProfsTer?)
c.226dup (p.Leu76ProfsTer?)
c.565dup (p.Leu189ProfsTer?)
 dbSNP
Xg.108575913C>ACA413921901COL4A5c.550C>A (p.Leu184Ile)
c.226C>A (p.Leu76Ile)
c.565C>A (p.Leu189Ile)
 gnomAD v4
Xg.108575913C>GCA413921903COL4A5c.550C>G (p.Leu184Val)
c.226C>G (p.Leu76Val)
c.565C>G (p.Leu189Val)
Xg.108575913C>TCA517991658COL4A5c.550C>T (p.Leu184=)
c.226C>T (p.Leu76=)
c.565C>T (p.Leu189=)
 gnomAD v4
Xg.108575914T>ACA413921910COL4A5c.551T>A (p.Leu184Gln)
c.227T>A (p.Leu76Gln)
c.566T>A (p.Leu189Gln)
 gnomAD v4
Xg.108575914T>CCA413921918COL4A5c.551T>C (p.Leu184Pro)
c.227T>C (p.Leu76Pro)
c.566T>C (p.Leu189Pro)
 gnomAD v4
Xg.108575914T>GCA413921922COL4A5c.551T>G (p.Leu184Arg)
c.227T>G (p.Leu76Arg)
c.566T>G (p.Leu189Arg)
 gnomAD v4
Xg.108575915delCA2579675904COL4A5c.552del (p.Pro185LeufsTer18)
c.228del (p.Pro77LeufsTer18)
c.567del (p.Pro190LeufsTer18)
Xg.108575915A>CCA517991659COL4A5c.552A>C (p.Leu184=)
c.228A>C (p.Leu76=)
c.567A>C (p.Leu189=)
Xg.108575915A>GCA517991660COL4A5c.552A>G (p.Leu184=)
c.228A>G (p.Leu76=)
c.567A>G (p.Leu189=)
 gnomAD v4
Xg.108575915A>TCA517991661COL4A5c.552A>T (p.Leu184=)
c.228A>T (p.Leu76=)
c.567A>T (p.Leu189=)
 ClinVar dbSNP gnomAD v4
Xg.108575916C>ACA413921925COL4A5c.553C>A (p.Pro185Thr)
c.229C>A (p.Pro77Thr)
c.568C>A (p.Pro190Thr)
 gnomAD v4
Xg.108575916C>GCA413921923COL4A5c.553C>G (p.Pro185Ala)
c.229C>G (p.Pro77Ala)
c.568C>G (p.Pro190Ala)
Xg.108575916C>TCA413921924COL4A5c.553C>T (p.Pro185Ser)
c.229C>T (p.Pro77Ser)
c.568C>T (p.Pro190Ser)
 gnomAD v4
Xg.108575917C>ACA413921930COL4A5c.554C>A (p.Pro185His)
c.230C>A (p.Pro77His)
c.569C>A (p.Pro190His)
 gnomAD v4
Xg.108575917C=CA2450681478COL4A5c.554C= (p.Pro185=)
c.230C= (p.Pro77=)
c.569C= (p.Pro190=)
Xg.108575917C>GCA413921937COL4A5c.554C>G (p.Pro185Arg)
c.230C>G (p.Pro77Arg)
c.569C>G (p.Pro190Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108575917C>TCA413921942COL4A5c.554C>T (p.Pro185Leu)
c.230C>T (p.Pro77Leu)
c.569C>T (p.Pro190Leu)
 gnomAD v4
Xg.108575918T>ACA517991662COL4A5c.555T>A (p.Pro185=)
c.231T>A (p.Pro77=)
c.570T>A (p.Pro190=)
Xg.108575918T>CCA517991663COL4A5c.555T>C (p.Pro185=)
c.231T>C (p.Pro77=)
c.570T>C (p.Pro190=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108575918T>GCA517991664COL4A5c.555T>G (p.Pro185=)
c.231T>G (p.Pro77=)
c.570T>G (p.Pro190=)
Xg.108575918T=CA2450681479COL4A5c.555T= (p.Pro185=)
c.231T= (p.Pro77=)
c.570T= (p.Pro190=)
Xg.108575919G>ACA413921949COL4A5c.556G>A (p.Gly186Ser)
c.232G>A (p.Gly78Ser)
c.571G>A (p.Gly191Ser)
 ClinVar dbSNP gnomAD v4
Xg.108575919G>CCA413921951COL4A5c.556G>C (p.Gly186Arg)
c.232G>C (p.Gly78Arg)
c.571G>C (p.Gly191Arg)
Xg.108575919G=CA2450681480COL4A5c.556G= (p.Gly186=)
c.232G= (p.Gly78=)
c.571G= (p.Gly191=)
Xg.108575919G>TCA413921953COL4A5c.556G>T (p.Gly186Cys)
c.232G>T (p.Gly78Cys)
c.571G>T (p.Gly191Cys)
Xg.108575920delCA2579675905COL4A5c.557del (p.Gly186ValfsTer17)
c.233del (p.Gly78ValfsTer17)
c.572del (p.Gly191ValfsTer17)
 gnomAD v4
Xg.108575920G>ACA413921954COL4A5c.557G>A (p.Gly186Asp)
c.233G>A (p.Gly78Asp)
c.572G>A (p.Gly191Asp)
 ClinVar dbSNP gnomAD v4
Xg.108575920G>CCA413921956COL4A5c.557G>C (p.Gly186Ala)
c.233G>C (p.Gly78Ala)
c.572G>C (p.Gly191Ala)
Xg.108575920G>TCA413921960COL4A5c.557G>T (p.Gly186Val)
c.233G>T (p.Gly78Val)
c.572G>T (p.Gly191Val)
 gnomAD v4
Xg.108575921T>ACA517991665COL4A5c.558T>A (p.Gly186=)
c.234T>A (p.Gly78=)
c.573T>A (p.Gly191=)
Xg.108575921T>CCA517991666COL4A5c.558T>C (p.Gly186=)
c.234T>C (p.Gly78=)
c.573T>C (p.Gly191=)
 gnomAD v4
Xg.108575921T>GCA517991667COL4A5c.558T>G (p.Gly186=)
c.234T>G (p.Gly78=)
c.573T>G (p.Gly191=)
 gnomAD v4
Xg.108575921T=CA2450681481COL4A5c.558T= (p.Gly186=)
c.234T= (p.Gly78=)
c.573T= (p.Gly191=)
Xg.108575922C>ACA413921964COL4A5c.559C>A (p.Pro187Thr)
c.235C>A (p.Pro79Thr)
c.574C>A (p.Pro192Thr)
 gnomAD v3 gnomAD v4
Xg.108575922C>GCA413921966COL4A5c.559C>G (p.Pro187Ala)
c.235C>G (p.Pro79Ala)
c.574C>G (p.Pro192Ala)
Xg.108575922C>TCA413921968COL4A5c.559C>T (p.Pro187Ser)
c.235C>T (p.Pro79Ser)
c.574C>T (p.Pro192Ser)
Xg.108575923_108575924dupCA891843910COL4A5c.560_561dup (p.Thr188ProfsTer16)
c.236_237dup (p.Thr80ProfsTer16)
c.575_576dup (p.Thr193ProfsTer16)
Xg.108575924delCA2694411544COL4A5c.561del (p.Thr188LeufsTer15)
c.237del (p.Thr80LeufsTer15)
c.576del (p.Thr193LeufsTer15)
 gnomAD v4
Xg.108575923C>ACA413921995COL4A5c.560C>A (p.Pro187His)
c.236C>A (p.Pro79His)
c.575C>A (p.Pro192His)
 gnomAD v4

Number of alleles fetched