Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108580720_108580721delinsAGCA2450683097COL4A5c.873_874delinsAG (p.Gln291=)
c.549_550delinsAG (p.Gln183=)
c.888_889delinsAG (p.Gln296=)
Xg.108580721G>ACA413926389COL4A5c.874G>A (p.Gly292Arg)
c.550G>A (p.Gly184Arg)
c.889G>A (p.Gly297Arg)
ClinVar dbSNP
Xg.108580721G>CCA258341COL4A5c.874G>C (p.Gly292Arg)
c.550G>C (p.Gly184Arg)
c.889G>C (p.Gly297Arg)
ClinVar dbSNP
Xg.108580721G=CA2450683098COL4A5c.874G= (p.Gly292=)
c.550G= (p.Gly184=)
c.889G= (p.Gly297=)
Xg.108580721G>TCA413926398COL4A5c.874G>T (p.Gly292Ter)
c.550G>T (p.Gly184Ter)
c.889G>T (p.Gly297Ter)
Xg.108580722delCA258345COL4A5c.875del (p.Gly292GlufsTer?)
c.551del (p.Gly184GlufsTer?)
c.890del (p.Gly297GlufsTer?)
ClinVar dbSNP
Xg.108580722G>ACA413926404COL4A5c.875G>A (p.Gly292Glu)
c.551G>A (p.Gly184Glu)
c.890G>A (p.Gly297Glu)
ClinVar dbSNP
Xg.108580722G>CCA413926408COL4A5c.875G>C (p.Gly292Ala)
c.551G>C (p.Gly184Ala)
c.890G>C (p.Gly297Ala)
Xg.108580722G=CA2450683099COL4A5c.875G= (p.Gly292=)
c.551G= (p.Gly184=)
c.890G= (p.Gly297=)
Xg.108580722G>TCA258343COL4A5c.875G>T (p.Gly292Val)
c.551G>T (p.Gly184Val)
c.890G>T (p.Gly297Val)
dbSNP
Xg.108580723A=CA2450683100COL4A5c.876A= (p.Gly292=)
c.552A= (p.Gly184=)
c.891A= (p.Gly297=)
Xg.108580723A>CCA517991904COL4A5c.876A>C (p.Gly292=)
c.552A>C (p.Gly184=)
c.891A>C (p.Gly297=)
Xg.108580723A>GCA517991905COL4A5c.876A>G (p.Gly292=)
c.552A>G (p.Gly184=)
c.891A>G (p.Gly297=)
Xg.108580723A>TCA517991906COL4A5c.876A>T (p.Gly292=)
c.552A>T (p.Gly184=)
c.891A>T (p.Gly297=)
Xg.108580724G>ACA413926415COL4A5c.877G>A (p.Glu293Lys)
c.553G>A (p.Glu185Lys)
c.892G>A (p.Glu298Lys)
gnomAD v4
Xg.108580724G>CCA413926419COL4A5c.877G>C (p.Glu293Gln)
c.553G>C (p.Glu185Gln)
c.892G>C (p.Glu298Gln)
dbSNP gnomAD v4
Xg.108580724G=CA2450683101COL4A5c.877G= (p.Glu293=)
c.553G= (p.Glu185=)
c.892G= (p.Glu298=)
Xg.108580724G>TCA413926427COL4A5c.877G>T (p.Glu293Ter)
c.553G>T (p.Glu185Ter)
c.892G>T (p.Glu298Ter)
Xg.108580725A>CCA413926432COL4A5c.878A>C (p.Glu293Ala)
c.554A>C (p.Glu185Ala)
c.893A>C (p.Glu298Ala)
Xg.108580725A>GCA413926438COL4A5c.878A>G (p.Glu293Gly)
c.554A>G (p.Glu185Gly)
c.893A>G (p.Glu298Gly)
Xg.108580725A>TCA413926430COL4A5c.878A>T (p.Glu293Val)
c.554A>T (p.Glu185Val)
c.893A>T (p.Glu298Val)
Xg.108580726G>ACA517991907COL4A5c.879G>A (p.Glu293=)
c.555G>A (p.Glu185=)
c.894G>A (p.Glu298=)
Xg.108580726G>CCA413926445COL4A5c.879G>C (p.Glu293Asp)
c.555G>C (p.Glu185Asp)
c.894G>C (p.Glu298Asp)
Xg.108580726G>TCA413926442COL4A5c.879G>T (p.Glu293Asp)
c.555G>T (p.Glu185Asp)
c.894G>T (p.Glu298Asp)
Xg.108580727C>ACA413926466COL4A5c.880C>A (p.Pro294Thr)
c.556C>A (p.Pro186Thr)
c.895C>A (p.Pro299Thr)
Xg.108580727C=CA2450683102COL4A5c.880C= (p.Pro294=)
c.556C= (p.Pro186=)
c.895C= (p.Pro299=)
Xg.108580727C>GCA413926463COL4A5c.880C>G (p.Pro294Ala)
c.556C>G (p.Pro186Ala)
c.895C>G (p.Pro299Ala)
Xg.108580727C>TCA10488597COL4A5c.880C>T (p.Pro294Ser)
c.556C>T (p.Pro186Ser)
c.895C>T (p.Pro299Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580728C>ACA413926468COL4A5c.881C>A (p.Pro294Gln)
c.557C>A (p.Pro186Gln)
c.896C>A (p.Pro299Gln)
Xg.108580728C>GCA413926471COL4A5c.881C>G (p.Pro294Arg)
c.557C>G (p.Pro186Arg)
c.896C>G (p.Pro299Arg)
Xg.108580728C>TCA413926469COL4A5c.881C>T (p.Pro294Leu)
c.557C>T (p.Pro186Leu)
c.896C>T (p.Pro299Leu)
Xg.108580729A>CCA517991908COL4A5c.882A>C (p.Pro294=)
c.558A>C (p.Pro186=)
c.897A>C (p.Pro299=)
Xg.108580729A>GCA517991909COL4A5c.882A>G (p.Pro294=)
c.558A>G (p.Pro186=)
c.897A>G (p.Pro299=)
Xg.108580729A>TCA517991910COL4A5c.882A>T (p.Pro294=)
c.558A>T (p.Pro186=)
c.897A>T (p.Pro299=)
Xg.108580730G>ACA413926474COL4A5c.883G>A (p.Gly295Ser)
c.559G>A (p.Gly187Ser)
c.898G>A (p.Gly300Ser)
ClinVar dbSNP
Xg.108580730G>CCA413926477COL4A5c.883G>C (p.Gly295Arg)
c.559G>C (p.Gly187Arg)
c.898G>C (p.Gly300Arg)
Xg.108580730G>TCA413926480COL4A5c.883G>T (p.Gly295Cys)
c.559G>T (p.Gly187Cys)
c.898G>T (p.Gly300Cys)
Xg.108580731G>ACA258346COL4A5c.884G>A (p.Gly295Asp)
c.560G>A (p.Gly187Asp)
c.899G>A (p.Gly300Asp)
ClinVar dbSNP
Xg.108580731G>CCA413926488COL4A5c.884G>C (p.Gly295Ala)
c.560G>C (p.Gly187Ala)
c.899G>C (p.Gly300Ala)
Xg.108580731G=CA2450683103COL4A5c.884G= (p.Gly295=)
c.560G= (p.Gly187=)
c.899G= (p.Gly300=)
Xg.108580731G>TCA413926493COL4A5c.884G>T (p.Gly295Val)
c.560G>T (p.Gly187Val)
c.899G>T (p.Gly300Val)
Xg.108580732delCA2695235192COL4A5c.885del (p.Arg297GlufsTer?)
c.561del (p.Arg189GlufsTer?)
c.900del (p.Arg302GlufsTer?)
Xg.108580732C>ACA517991911COL4A5c.885C>A (p.Gly295=)
c.561C>A (p.Gly187=)
c.900C>A (p.Gly300=)
COSMIC COSMIC
Xg.108580732C>GCA517991912COL4A5c.885C>G (p.Gly295=)
c.561C>G (p.Gly187=)
c.900C>G (p.Gly300=)
Xg.108580732C>TCA517991913COL4A5c.885C>T (p.Gly295=)
c.561C>T (p.Gly187=)
c.900C>T (p.Gly300=)
Xg.108580733A>CCA413926496COL4A5c.886A>C (p.Lys296Gln)
c.562A>C (p.Lys188Gln)
c.901A>C (p.Lys301Gln)
Xg.108580733A>GCA413926498COL4A5c.886A>G (p.Lys296Glu)
c.562A>G (p.Lys188Glu)
c.901A>G (p.Lys301Glu)
Xg.108580733A>TCA413926504COL4A5c.886A>T (p.Lys296Ter)
c.562A>T (p.Lys188Ter)
c.901A>T (p.Lys301Ter)
Xg.108580735_108580736delCA2695235193COL4A5c.888_889del (p.Gly298Ter)
c.564_565del (p.Gly190Ter)
c.903_904del (p.Gly303Ter)
Xg.108580734A>CCA413926509COL4A5c.887A>C (p.Lys296Thr)
c.563A>C (p.Lys188Thr)
c.902A>C (p.Lys301Thr)

Number of alleles fetched