Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
Xg.108575923C>GCA413921988COL4A5c.560C>G (p.Pro187Arg)
c.236C>G (p.Pro79Arg)
c.575C>G (p.Pro192Arg)
Xg.108575923C>TCA413921970COL4A5c.560C>T (p.Pro187Leu)
c.236C>T (p.Pro79Leu)
c.575C>T (p.Pro192Leu)
 gnomAD v4
Xg.108575927_108575961delCA2580100156COL4A5c.564_598del (p.Gly189ArgfsTer15)
c.240_274del (p.Gly81ArgfsTer15)
c.579_613del (p.Gly194ArgfsTer15)
 ClinVar
Xg.108575924C>ACA517991670COL4A5c.561C>A (p.Pro187=)
c.237C>A (p.Pro79=)
c.576C>A (p.Pro192=)
 gnomAD v4
Xg.108575924C>GCA517991668COL4A5c.561C>G (p.Pro187=)
c.237C>G (p.Pro79=)
c.576C>G (p.Pro192=)
Xg.108575924C>TCA517991669COL4A5c.561C>T (p.Pro187=)
c.237C>T (p.Pro79=)
c.576C>T (p.Pro192=)
Xg.108575925A>CCA413922000COL4A5c.562A>C (p.Thr188Pro)
c.238A>C (p.Thr80Pro)
c.577A>C (p.Thr193Pro)
Xg.108575925A>GCA413922005COL4A5c.562A>G (p.Thr188Ala)
c.238A>G (p.Thr80Ala)
c.577A>G (p.Thr193Ala)
Xg.108575925A>TCA413922002COL4A5c.562A>T (p.Thr188Ser)
c.238A>T (p.Thr80Ser)
c.577A>T (p.Thr193Ser)
 gnomAD v4
Xg.108575926C>ACA413922008COL4A5c.563C>A (p.Thr188Asn)
c.239C>A (p.Thr80Asn)
c.578C>A (p.Thr193Asn)
 gnomAD v4
Xg.108575926C>GCA413922015COL4A5c.563C>G (p.Thr188Ser)
c.239C>G (p.Thr80Ser)
c.578C>G (p.Thr193Ser)
Xg.108575926C>TCA413922025COL4A5c.563C>T (p.Thr188Ile)
c.239C>T (p.Thr80Ile)
c.578C>T (p.Thr193Ile)
 gnomAD v4
Xg.108575927T>ACA517991671COL4A5c.564T>A (p.Thr188=)
c.240T>A (p.Thr80=)
c.579T>A (p.Thr193=)
 gnomAD v4
Xg.108575927T>CCA517991672COL4A5c.564T>C (p.Thr188=)
c.240T>C (p.Thr80=)
c.579T>C (p.Thr193=)
 gnomAD v4
Xg.108575927T>GCA517991673COL4A5c.564T>G (p.Thr188=)
c.240T>G (p.Thr80=)
c.579T>G (p.Thr193=)
Xg.108575928G>ACA413922029COL4A5c.565G>A (p.Gly189Ser)
c.241G>A (p.Gly81Ser)
c.580G>A (p.Gly194Ser)
Xg.108575928G>CCA413922050COL4A5c.565G>C (p.Gly189Arg)
c.241G>C (p.Gly81Arg)
c.580G>C (p.Gly194Arg)
Xg.108575928G>TCA413922051COL4A5c.565G>T (p.Gly189Cys)
c.241G>T (p.Gly81Cys)
c.580G>T (p.Gly194Cys)
 gnomAD v4
Xg.108575929delCA2694411558COL4A5c.566del (p.Gly189ValfsTer14)
c.242del (p.Gly81ValfsTer14)
c.581del (p.Gly194ValfsTer14)
 gnomAD v4
Xg.108575929G>ACA413922053COL4A5c.566G>A (p.Gly189Asp)
c.242G>A (p.Gly81Asp)
c.581G>A (p.Gly194Asp)
 gnomAD v4
Xg.108575929G>CCA413922055COL4A5c.566G>C (p.Gly189Ala)
c.242G>C (p.Gly81Ala)
c.581G>C (p.Gly194Ala)
Xg.108575929G>TCA413922057COL4A5c.566G>T (p.Gly189Val)
c.242G>T (p.Gly81Val)
c.581G>T (p.Gly194Val)
 gnomAD v4
Xg.108575929_108575931delinsGTACA2450681482COL4A5c.566_568delinsGTA (p.Gly189=)
c.242_244delinsGTA (p.Gly81=)
c.581_583delinsGTA (p.Gly194=)
Xg.108575930T>ACA517991676COL4A5c.567T>A (p.Gly189=)
c.243T>A (p.Gly81=)
c.582T>A (p.Gly194=)

Number of alleles fetched