Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108575927_108575961delCA2580100156COL4A5c.564_598del (p.Gly189ArgfsTer15)
c.240_274del (p.Gly81ArgfsTer15)
c.579_613del (p.Gly194ArgfsTer15)
ClinVar
Xg.108575934_108575946delinsCCAGGGCCAATTGCA2450681485COL4A5c.571_583delinsCCAGGGCCAATTG (p.Pro191=)
c.247_259delinsCCAGGGCCAATTG (p.Pro83=)
c.586_598delinsCCAGGGCCAATTG (p.Pro196=)
Xg.108575935_108575946delCA891863003COL4A5c.572_583del (p.Pro191_Gly195delinsArg)
c.248_259del (p.Pro83_Gly87delinsArg)
c.587_598del (p.Pro196_Gly200delinsArg)
ClinVar dbSNP
Xg.108575936_108575937dupCA261043COL4A5c.573_574dup (p.Gly192GlufsTer12)
c.249_250dup (p.Gly84GlufsTer12)
c.588_589dup (p.Gly197GlufsTer12)
dbSNP
Xg.108575937G>ACA258274COL4A5c.574G>A (p.Gly192Arg)
c.250G>A (p.Gly84Arg)
c.589G>A (p.Gly197Arg)
ClinVar dbSNP gnomAD v4
Xg.108575937G>CCA413922168COL4A5c.574G>C (p.Gly192Arg)
c.250G>C (p.Gly84Arg)
c.589G>C (p.Gly197Arg)
Xg.108575937G=CA2450681487COL4A5c.574G= (p.Gly192=)
c.250G= (p.Gly84=)
c.589G= (p.Gly197=)
Xg.108575937G>TCA413922187COL4A5c.574G>T (p.Gly192Trp)
c.250G>T (p.Gly84Trp)
c.589G>T (p.Gly197Trp)
ClinVar dbSNP gnomAD v4
Xg.108575939dupCA2695235183COL4A5c.576dup (p.Pro193AlafsTer23)
c.252dup (p.Pro85AlafsTer23)
c.591dup (p.Pro198AlafsTer23)
Xg.108575938G>ACA413922225COL4A5c.575G>A (p.Gly192Glu)
c.251G>A (p.Gly84Glu)
c.590G>A (p.Gly197Glu)
ClinVar dbSNP gnomAD v4
Xg.108575938G>CCA413922195COL4A5c.575G>C (p.Gly192Ala)
c.251G>C (p.Gly84Ala)
c.590G>C (p.Gly197Ala)
Xg.108575938G>TCA413922192COL4A5c.575G>T (p.Gly192Val)
c.251G>T (p.Gly84Val)
c.590G>T (p.Gly197Val)
gnomAD v4
Xg.108575939G>ACA517991682COL4A5c.576G>A (p.Gly192=)
c.252G>A (p.Gly84=)
c.591G>A (p.Gly197=)
dbSNP gnomAD v3 gnomAD v4
Xg.108575939G>CCA517991683COL4A5c.576G>C (p.Gly192=)
c.252G>C (p.Gly84=)
c.591G>C (p.Gly197=)
Xg.108575939G=CA2450681488COL4A5c.576G= (p.Gly192=)
c.252G= (p.Gly84=)
c.591G= (p.Gly197=)
Xg.108575939G>TCA517991684COL4A5c.576G>T (p.Gly192=)
c.252G>T (p.Gly84=)
c.591G>T (p.Gly197=)
Xg.108575940C>ACA413922230COL4A5c.577C>A (p.Pro193Thr)
c.253C>A (p.Pro85Thr)
c.592C>A (p.Pro198Thr)
gnomAD v4
Xg.108575940C>GCA413922235COL4A5c.577C>G (p.Pro193Ala)
c.253C>G (p.Pro85Ala)
c.592C>G (p.Pro198Ala)
Xg.108575940C>TCA413922238COL4A5c.577C>T (p.Pro193Ser)
c.253C>T (p.Pro85Ser)
c.592C>T (p.Pro198Ser)
gnomAD v4
Xg.108575941delCA2694411575COL4A5c.578del (p.Pro193GlnfsTer10)
c.254del (p.Pro85GlnfsTer10)
c.593del (p.Pro198GlnfsTer10)
gnomAD v4
Xg.108575941C>ACA413922249COL4A5c.578C>A (p.Pro193Gln)
c.254C>A (p.Pro85Gln)
c.593C>A (p.Pro198Gln)
gnomAD v4
Xg.108575941C=CA2450681489COL4A5c.578C= (p.Pro193=)
c.254C= (p.Pro85=)
c.593C= (p.Pro198=)
Xg.108575941C>GCA413922250COL4A5c.578C>G (p.Pro193Arg)
c.254C>G (p.Pro85Arg)
c.593C>G (p.Pro198Arg)
Xg.108575941C>TCA334179907COL4A5c.578C>T (p.Pro193Leu)
c.254C>T (p.Pro85Leu)
c.593C>T (p.Pro198Leu)
dbSNP gnomAD v3 gnomAD v4
Xg.108575942A=CA2450681490COL4A5c.579A= (p.Pro193=)
c.255A= (p.Pro85=)
c.594A= (p.Pro198=)
Xg.108575942A>CCA517991685COL4A5c.579A>C (p.Pro193=)
c.255A>C (p.Pro85=)
c.594A>C (p.Pro198=)
gnomAD v4
Xg.108575942A>GCA517991686COL4A5c.579A>G (p.Pro193=)
c.255A>G (p.Pro85=)
c.594A>G (p.Pro198=)
dbSNP
Xg.108575942A>TCA517991687COL4A5c.579A>T (p.Pro193=)
c.255A>T (p.Pro85=)
c.594A>T (p.Pro198=)
Xg.108575943A=CA2450681491COL4A5c.580A= (p.Ile194=)
c.256A= (p.Ile86=)
c.595A= (p.Ile199=)
Xg.108575943A>CCA413922256COL4A5c.580A>C (p.Ile194Leu)
c.256A>C (p.Ile86Leu)
c.595A>C (p.Ile199Leu)
Xg.108575943A>GCA10488511COL4A5c.580A>G (p.Ile194Val)
c.256A>G (p.Ile86Val)
c.595A>G (p.Ile199Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575943A>TCA413922265COL4A5c.580A>T (p.Ile194Phe)
c.256A>T (p.Ile86Phe)
c.595A>T (p.Ile199Phe)
Xg.108575944T>ACA413922270COL4A5c.581T>A (p.Ile194Asn)
c.257T>A (p.Ile86Asn)
c.596T>A (p.Ile199Asn)
gnomAD v4
Xg.108575944T>CCA334179910COL4A5c.581T>C (p.Ile194Thr)
c.257T>C (p.Ile86Thr)
c.596T>C (p.Ile199Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575944T>GCA413922279COL4A5c.581T>G (p.Ile194Ser)
c.257T>G (p.Ile86Ser)
c.596T>G (p.Ile199Ser)
Xg.108575944T=CA2450681492COL4A5c.581T= (p.Ile194=)
c.257T= (p.Ile86=)
c.596T= (p.Ile199=)
Xg.108575945T>ACA517991689COL4A5c.582T>A (p.Ile194=)
c.258T>A (p.Ile86=)
c.597T>A (p.Ile199=)
Xg.108575945T>CCA517991688COL4A5c.582T>C (p.Ile194=)
c.258T>C (p.Ile86=)
c.597T>C (p.Ile199=)
gnomAD v4
Xg.108575945T>GCA413922281COL4A5c.582T>G (p.Ile194Met)
c.258T>G (p.Ile86Met)
c.597T>G (p.Ile199Met)
Xg.108575946G>ACA413922284COL4A5c.583G>A (p.Gly195Ser)
c.259G>A (p.Gly87Ser)
c.598G>A (p.Gly200Ser)
gnomAD v4
Xg.108575946G>CCA413922282COL4A5c.583G>C (p.Gly195Arg)
c.259G>C (p.Gly87Arg)
c.598G>C (p.Gly200Arg)
Xg.108575946G>TCA413922283COL4A5c.583G>T (p.Gly195Cys)
c.259G>T (p.Gly87Cys)
c.598G>T (p.Gly200Cys)
gnomAD v4 COSMIC COSMIC
Xg.108575947G>ACA258276COL4A5c.584G>A (p.Gly195Asp)
c.260G>A (p.Gly87Asp)
c.599G>A (p.Gly200Asp)
ClinVar dbSNP
Xg.108575947G>CCA413922298COL4A5c.584G>C (p.Gly195Ala)
c.260G>C (p.Gly87Ala)
c.599G>C (p.Gly200Ala)
gnomAD v4
Xg.108575947G=CA2450681493COL4A5c.584G= (p.Gly195=)
c.260G= (p.Gly87=)
c.599G= (p.Gly200=)
Xg.108575947G>TCA413922299COL4A5c.584G>T (p.Gly195Val)
c.260G>T (p.Gly87Val)
c.599G>T (p.Gly200Val)
ClinVar dbSNP COSMIC COSMIC
Xg.108575948delCA2694411592COL4A5c.585del (p.Pro197GlnfsTer6)
c.261del (p.Pro89GlnfsTer6)
c.600del (p.Pro202GlnfsTer6)
gnomAD v4
Xg.108575948T>ACA517991690COL4A5c.585T>A (p.Gly195=)
c.261T>A (p.Gly87=)
c.600T>A (p.Gly200=)
Xg.108575948T>CCA517991691COL4A5c.585T>C (p.Gly195=)
c.261T>C (p.Gly87=)
c.600T>C (p.Gly200=)
gnomAD v4
Xg.108575948T>GCA517991692COL4A5c.585T>G (p.Gly195=)
c.261T>G (p.Gly87=)
c.600T>G (p.Gly200=)

Number of alleles fetched