Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.110168320_110172666delCA2580616537COL4A1c.3556+54_3877-1090del
c.3364+54_3685-1090del
 ClinVar
13g.110170500A=CA2118733979COL4A1c.3742+47T= (n.3742+47T=)
c.3550+47T= (n.3550+47T=)
13g.110170500A>GCA2118733980COL4A1c.3742+47T>C (n.3742+47T>C)
c.3550+47T>C (n.3550+47T>C)
 dbSNP
13g.110170500A>TCA2623672896COL4A1c.3742+47T>A (n.3742+47T>A)
c.3550+47T>A (n.3550+47T>A)
 gnomAD v4
13g.110170501A>TCA2623672897COL4A1c.3742+46T>A (n.3742+46T>A)
c.3550+46T>A (n.3550+46T>A)
 gnomAD v4
13g.110170502T>ACA2623672898COL4A1c.3742+45A>T (n.3742+45A>T)
c.3550+45A>T (n.3550+45A>T)
 gnomAD v4
13g.110170503T>CCA612623457COL4A1c.3742+44A>G (n.3742+44A>G)
c.3550+44A>G (n.3550+44A>G)
 dbSNP gnomAD v2 gnomAD v4
13g.110170503T=CA2118733982COL4A1c.3742+44A= (n.3742+44A=)
c.3550+44A= (n.3550+44A=)
13g.110170504C=CA2118733983COL4A1c.3742+43G= (n.3742+43G=)
c.3550+43G= (n.3550+43G=)
13g.110170504C>TCA612623462COL4A1c.3742+43G>A (n.3742+43G>A)
c.3550+43G>A (n.3550+43G>A)
 dbSNP gnomAD v2 gnomAD v4
13g.110170506G>ACA2575453670COL4A1c.3742+41C>T (n.3742+41C>T)
c.3550+41C>T (n.3550+41C>T)
 gnomAD v4
13g.110170506G>TCA2575453671COL4A1c.3742+41C>A (n.3742+41C>A)
c.3550+41C>A (n.3550+41C>A)
 gnomAD v4
13g.110170507T>CCA256251449COL4A1c.3742+40A>G (n.3742+40A>G)
c.3550+40A>G (n.3550+40A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110170507T=CA2118733985COL4A1c.3742+40A= (n.3742+40A=)
c.3550+40A= (n.3550+40A=)
13g.110170508C>ACA2623672899COL4A1c.3742+39G>T (n.3742+39G>T)
c.3550+39G>T (n.3550+39G>T)
 gnomAD v4
13g.110170508C=CA2118733988COL4A1c.3742+39G= (n.3742+39G=)
c.3550+39G= (n.3550+39G=)
13g.110170508C>TCA612623464COL4A1c.3742+39G>A (n.3742+39G>A)
c.3550+39G>A (n.3550+39G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110170509C>ACA612623468COL4A1c.3742+38G>T (n.3742+38G>T)
c.3550+38G>T (n.3550+38G>T)
 dbSNP gnomAD v2 gnomAD v4
13g.110170509C=CA2118733993COL4A1c.3742+38G= (n.3742+38G=)
c.3550+38G= (n.3550+38G=)
13g.110170509C>GCA2623672900COL4A1c.3742+38G>C (n.3742+38G>C)
c.3550+38G>C (n.3550+38G>C)
 gnomAD v4
13g.110170509C>TCA256251458COL4A1c.3742+38G>A (n.3742+38G>A)
c.3550+38G>A (n.3550+38G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110170510C>ACA2623672901COL4A1c.3742+37G>T (n.3742+37G>T)
c.3550+37G>T (n.3550+37G>T)
 gnomAD v4
13g.110170510C>TCA2623672902COL4A1c.3742+37G>A (n.3742+37G>A)
c.3550+37G>A (n.3550+37G>A)
 gnomAD v4
13g.110170511A>TCA2575453674COL4A1c.3742+36T>A (n.3742+36T>A)
c.3550+36T>A (n.3550+36T>A)
13g.110170512G>ACA2525191796COL4A1c.3742+35C>T (n.3742+35C>T)
c.3550+35C>T (n.3550+35C>T)
 gnomAD v4
13g.110170512G>TCA2575453675COL4A1c.3742+35C>A (n.3742+35C>A)
c.3550+35C>A (n.3550+35C>A)
 gnomAD v4
13g.110170513T>CCA2623672903COL4A1c.3742+34A>G (n.3742+34A>G)
c.3550+34A>G (n.3550+34A>G)
 gnomAD v4
13g.110170514C>ACA2623672904COL4A1c.3742+33G>T (n.3742+33G>T)
c.3550+33G>T (n.3550+33G>T)
 gnomAD v4
13g.110170514_110170515insTTGCA2623672905COL4A1c.3742+32_3742+33insCAA (n.3742+32_3742+33insCAA)
c.3550+32_3550+33insCAA (n.3550+32_3550+33insCAA)
 gnomAD v4
13g.110170515C>ACA2623672907COL4A1c.3742+32G>T (n.3742+32G>T)
c.3550+32G>T (n.3550+32G>T)
 gnomAD v4
13g.110170515C>GCA2623672906COL4A1c.3742+32G>C (n.3742+32G>C)
c.3550+32G>C (n.3550+32G>C)
 gnomAD v4
13g.110170516T>CCA2729125006COL4A1c.3742+31A>G (n.3742+31A>G)
c.3550+31A>G (n.3550+31A>G)
 dbSNP
13g.110170517C>ACA2623672908COL4A1c.3742+30G>T (n.3742+30G>T)
c.3550+30G>T (n.3550+30G>T)
 gnomAD v4
13g.110170517C=CA2118733997COL4A1c.3742+30G= (n.3742+30G=)
c.3550+30G= (n.3550+30G=)
13g.110170517C>TCA695033006COL4A1c.3742+30G>A (n.3742+30G>A)
c.3550+30G>A (n.3550+30G>A)
 dbSNP gnomAD v3 gnomAD v4
13g.110170518A>GCA2623672909COL4A1c.3742+29T>C (n.3742+29T>C)
c.3550+29T>C (n.3550+29T>C)
 gnomAD v4
13g.110170519G>ACA960160551COL4A1c.3742+28C>T (n.3742+28C>T)
c.3550+28C>T (n.3550+28C>T)
 dbSNP gnomAD v3 gnomAD v4
13g.110170519G=CA2118734001COL4A1c.3742+28C= (n.3742+28C=)
c.3550+28C= (n.3550+28C=)
13g.110170519G>TCA612623472COL4A1c.3742+28C>A (n.3742+28C>A)
c.3550+28C>A (n.3550+28C>A)
 dbSNP gnomAD v2 gnomAD v4
13g.110170519dupCA2838979207COL4A1c.3742+28dup (n.3742+28dup)
c.3550+28dup (n.3550+28dup)
13g.110170520C>ACA7047157COL4A1c.3742+27G>T (n.3742+27G>T)
c.3550+27G>T (n.3550+27G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170520C=CA2118734005COL4A1c.3742+27G= (n.3742+27G=)
c.3550+27G= (n.3550+27G=)
13g.110170520C>TCA612623477COL4A1c.3742+27G>A (n.3742+27G>A)
c.3550+27G>A (n.3550+27G>A)
 dbSNP gnomAD v2 gnomAD v4
13g.110170521C>ACA2623672910COL4A1c.3742+26G>T (n.3742+26G>T)
c.3550+26G>T (n.3550+26G>T)
 gnomAD v4
13g.110170521C>GCA2623672911COL4A1c.3742+26G>C (n.3742+26G>C)
c.3550+26G>C (n.3550+26G>C)
 gnomAD v4
13g.110170522C>ACA2623672912COL4A1c.3742+25G>T (n.3742+25G>T)
c.3550+25G>T (n.3550+25G>T)
 gnomAD v4
13g.110170522C=CA2118734009COL4A1c.3742+25G= (n.3742+25G=)
c.3550+25G= (n.3550+25G=)
13g.110170522C>GCA7047158COL4A1c.3742+25G>C (n.3742+25G>C)
c.3550+25G>C (n.3550+25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110170523T>ACA2623672914COL4A1c.3742+24A>T (n.3742+24A>T)
c.3550+24A>T (n.3550+24A>T)
 gnomAD v4
13g.110170523T>CCA2623672913COL4A1c.3742+24A>G (n.3742+24A>G)
c.3550+24A>G (n.3550+24A>G)
 gnomAD v4
13g.110170524G>ACA612623482COL4A1c.3742+23C>T (n.3742+23C>T)
c.3550+23C>T (n.3550+23C>T)
 dbSNP gnomAD v2 gnomAD v4
13g.110170524G=CA2118734012COL4A1c.3742+23C= (n.3742+23C=)
c.3550+23C= (n.3550+23C=)
13g.110170525G>ACA2575453679COL4A1c.3742+22C>T (n.3742+22C>T)
c.3550+22C>T (n.3550+22C>T)
 dbSNP gnomAD v4
13g.110170525G>TCA2623672915COL4A1c.3742+22C>A (n.3742+22C>A)
c.3550+22C>A (n.3550+22C>A)
 gnomAD v4
13g.110170526C>ACA2623672917COL4A1c.3742+21G>T (n.3742+21G>T)
c.3550+21G>T (n.3550+21G>T)
 gnomAD v4
13g.110170526C=CA2118734013COL4A1c.3742+21G= (n.3742+21G=)
c.3550+21G= (n.3550+21G=)
13g.110170526C>GCA2118734016COL4A1c.3742+21G>C (n.3742+21G>C)
c.3550+21G>C (n.3550+21G>C)
 dbSNP
13g.110170526C>TCA612623485COL4A1c.3742+21G>A (n.3742+21G>A)
c.3550+21G>A (n.3550+21G>A)
 dbSNP gnomAD v2 gnomAD v4
13g.110170529delCA2623672916COL4A1c.3742+21del (n.3742+21del)
c.3550+21del (n.3550+21del)
 gnomAD v4
13g.110170527C>ACA2623672918COL4A1c.3742+20G>T (n.3742+20G>T)
c.3550+20G>T (n.3550+20G>T)
 gnomAD v4
13g.110170527C=CA2118734018COL4A1c.3742+20G= (n.3742+20G=)
c.3550+20G= (n.3550+20G=)
13g.110170527C>TCA612623488COL4A1c.3742+20G>A (n.3742+20G>A)
c.3550+20G>A (n.3550+20G>A)
 dbSNP gnomAD v2
13g.110170528C>ACA2623672919COL4A1c.3742+19G>T (n.3742+19G>T)
c.3550+19G>T (n.3550+19G>T)
 gnomAD v4
13g.110170529C>TCA2623672920COL4A1c.3742+18G>A (n.3742+18G>A)
c.3550+18G>A (n.3550+18G>A)
 ClinVar gnomAD v4
13g.110170530T>ACA2623672921COL4A1c.3742+17A>T (n.3742+17A>T)
c.3550+17A>T (n.3550+17A>T)
 gnomAD v4
13g.110170530T>CCA2623672922COL4A1c.3742+17A>G (n.3742+17A>G)
c.3550+17A>G (n.3550+17A>G)
 gnomAD v4
13g.110170530T>GCA2623672923COL4A1c.3742+17A>C (n.3742+17A>C)
c.3550+17A>C (n.3550+17A>C)
 gnomAD v4
13g.110170531G>ACA484788847COL4A1c.3742+16C>T (n.3742+16C>T)
c.3550+16C>T (n.3550+16C>T)
 dbSNP gnomAD v2 gnomAD v4
13g.110170531G=CA2118734020COL4A1c.3742+16C= (n.3742+16C=)
c.3550+16C= (n.3550+16C=)
13g.110170531G>TCA2623672924COL4A1c.3742+16C>A (n.3742+16C>A)
c.3550+16C>A (n.3550+16C>A)
 gnomAD v4
13g.110170532G=CA2118734022COL4A1c.3742+15C= (n.3742+15C=)
c.3550+15C= (n.3550+15C=)
13g.110170532G>TCA2623672925COL4A1c.3742+15C>A (n.3742+15C>A)
c.3550+15C>A (n.3550+15C>A)
 gnomAD v4
13g.110170533C>ACA7047161COL4A1c.3742+14G>T (n.3742+14G>T)
c.3550+14G>T (n.3550+14G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170533C=CA2118734031COL4A1c.3742+14G= (n.3742+14G=)
c.3550+14G= (n.3550+14G=)
13g.110170533C>GCA2623672926COL4A1c.3742+14G>C (n.3742+14G>C)
c.3550+14G>C (n.3550+14G>C)
 gnomAD v4
13g.110170533C>TCA7047160COL4A1c.3742+14G>A (n.3742+14G>A)
c.3550+14G>A (n.3550+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170533dupCA7047159COL4A1c.3742+14dup (n.3742+14dup)
c.3550+14dup (n.3550+14dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.110170534G>ACA256251467COL4A1c.3742+13C>T (n.3742+13C>T)
c.3550+13C>T (n.3550+13C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110170534G=CA2118734036COL4A1c.3742+13C= (n.3742+13C=)
c.3550+13C= (n.3550+13C=)
13g.110170534G>TCA2623672927COL4A1c.3742+13C>A (n.3742+13C>A)
c.3550+13C>A (n.3550+13C>A)
 gnomAD v4
13g.110170536G>ACA2118734038COL4A1c.3742+11C>T (n.3742+11C>T)
c.3550+11C>T (n.3550+11C>T)
 dbSNP gnomAD v4
13g.110170536G=CA2118734037COL4A1c.3742+11C= (n.3742+11C=)
c.3550+11C= (n.3550+11C=)
13g.110170536G>TCA7047162COL4A1c.3742+11C>A (n.3742+11C>A)
c.3550+11C>A (n.3550+11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170537A=CA2118734040COL4A1c.3742+10T= (n.3742+10T=)
c.3550+10T= (n.3550+10T=)
13g.110170537A>GCA612623509COL4A1c.3742+10T>C (n.3742+10T>C)
c.3550+10T>C (n.3550+10T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.110170537A>TCA2800581061COL4A1c.3742+10T>A (n.3742+10T>A)
c.3550+10T>A (n.3550+10T>A)
13g.110170538T>CCA2575453685COL4A1c.3742+9A>G (n.3742+9A>G)
c.3550+9A>G (n.3550+9A>G)
 gnomAD v4
13g.110170538T>GCA612623510COL4A1c.3742+9A>C (n.3742+9A>C)
c.3550+9A>C (n.3550+9A>C)
 dbSNP gnomAD v2
13g.110170538T=CA2118734041COL4A1c.3742+9A= (n.3742+9A=)
c.3550+9A= (n.3550+9A=)
13g.110170539G>ACA2118734044COL4A1c.3742+8C>T (n.3742+8C>T)
c.3550+8C>T (n.3550+8C>T)
 dbSNP
13g.110170539G=CA2118734043COL4A1c.3742+8C= (n.3742+8C=)
c.3550+8C= (n.3550+8C=)
13g.110170539G>TCA2623672928COL4A1c.3742+8C>A (n.3742+8C>A)
c.3550+8C>A (n.3550+8C>A)
 gnomAD v4
13g.110170540C>ACA2580087109COL4A1c.3742+7G>T (n.3742+7G>T)
c.3550+7G>T (n.3550+7G>T)
 ClinVar gnomAD v4
13g.110170540C>TCA2623672929COL4A1c.3742+7G>A (n.3742+7G>A)
c.3550+7G>A (n.3550+7G>A)
 gnomAD v4
13g.110170541C>ACA2623672930COL4A1c.3742+6G>T (n.3742+6G>T)
c.3550+6G>T (n.3550+6G>T)
 gnomAD v4
13g.110170542C>ACA612623512COL4A1c.3742+5G>T (n.3742+5G>T)
c.3550+5G>T (n.3550+5G>T)
 dbSNP gnomAD v2 gnomAD v4
13g.110170542C=CA2118734046COL4A1c.3742+5G= (n.3742+5G=)
c.3550+5G= (n.3550+5G=)
13g.110170544T>CCA612623514COL4A1c.3742+3A>G (n.3742+3A>G)
c.3550+3A>G (n.3550+3A>G)
 dbSNP gnomAD v2 gnomAD v4
13g.110170544T=CA2118734048COL4A1c.3742+3A= (n.3742+3A=)
c.3550+3A= (n.3550+3A=)
13g.110170545A>CCA388662188COL4A1c.3742+2T>G (n.3742+2T>G)
c.3550+2T>G (n.3550+2T>G)
13g.110170545A>GCA388662190COL4A1c.3742+2T>C (n.3742+2T>C)
c.3550+2T>C (n.3550+2T>C)
13g.110170545A>TCA388662192COL4A1c.3742+2T>A (n.3742+2T>A)
c.3550+2T>A (n.3550+2T>A)
 COSMIC COSMIC
13g.110170546C>ACA388662195COL4A1c.3742+1G>T (n.3742+1G>T)
c.3550+1G>T (n.3550+1G>T)
 ClinVar
13g.110170546C>GCA388662197COL4A1c.3742+1G>C (n.3742+1G>C)
c.3550+1G>C (n.3550+1G>C)
13g.110170546C>TCA388662199COL4A1c.3742+1G>A (n.3742+1G>A)
c.3550+1G>A (n.3550+1G>A)
 ClinVar dbSNP gnomAD v4
13g.110170547C>ACA388662200COL4A1c.3742G>T (p.Gly1248Ter)
c.3550G>T (p.Gly1184Ter)
13g.110170547C>GCA388662202COL4A1c.3742G>C (p.Gly1248Arg)
c.3550G>C (p.Gly1184Arg)
13g.110170547C>TCA388662204COL4A1c.3742G>A (p.Gly1248Arg)
c.3550G>A (p.Gly1184Arg)
 ClinVar
13g.110170548T>ACA484788848COL4A1c.3741A>T (p.Pro1247=)
c.3549A>T (p.Pro1183=)
 gnomAD v4
13g.110170548T>CCA484788849COL4A1c.3741A>G (p.Pro1247=)
c.3549A>G (p.Pro1183=)
13g.110170548T>GCA484788850COL4A1c.3741A>C (p.Pro1247=)
c.3549A>C (p.Pro1183=)
13g.110170549G>ACA7047163COL4A1c.3740C>T (p.Pro1247Leu)
c.3548C>T (p.Pro1183Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.110170549G>CCA388662206COL4A1c.3740C>G (p.Pro1247Arg)
c.3548C>G (p.Pro1183Arg)
13g.110170549G=CA2118734051COL4A1c.3740C= (p.Pro1247=)
c.3548C= (p.Pro1183=)
13g.110170549G>TCA388662205COL4A1c.3740C>A (p.Pro1247Gln)
c.3548C>A (p.Pro1183Gln)
 gnomAD v4
13g.110170550G>ACA388662210COL4A1c.3739C>T (p.Pro1247Ser)
c.3547C>T (p.Pro1183Ser)
 gnomAD v4
13g.110170550G>CCA388662211COL4A1c.3739C>G (p.Pro1247Ala)
c.3547C>G (p.Pro1183Ala)
13g.110170550G>TCA388662214COL4A1c.3739C>A (p.Pro1247Thr)
c.3547C>A (p.Pro1183Thr)
 gnomAD v4
13g.110170551C>ACA484788853COL4A1c.3738G>T (p.Leu1246=)
c.3546G>T (p.Leu1182=)
 ClinVar gnomAD v4
13g.110170551C>GCA484788851COL4A1c.3738G>C (p.Leu1246=)
c.3546G>C (p.Leu1182=)
13g.110170551C>TCA484788852COL4A1c.3738G>A (p.Leu1246=)
c.3546G>A (p.Leu1182=)
 gnomAD v4
13g.110170552A>CCA388662216COL4A1c.3737T>G (p.Leu1246Arg)
c.3545T>G (p.Leu1182Arg)
13g.110170552A>GCA388662219COL4A1c.3737T>C (p.Leu1246Pro)
c.3545T>C (p.Leu1182Pro)
13g.110170552A>TCA388662221COL4A1c.3737T>A (p.Leu1246Gln)
c.3545T>A (p.Leu1182Gln)
13g.110170553G>ACA7047164COL4A1c.3736C>T (p.Leu1246=)
c.3544C>T (p.Leu1182=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110170553G>CCA388662223COL4A1c.3736C>G (p.Leu1246Val)
c.3544C>G (p.Leu1182Val)
 dbSNP gnomAD v2
13g.110170553G=CA2118734053COL4A1c.3736C= (p.Leu1246=)
c.3544C= (p.Leu1182=)
13g.110170553G>TCA388662226COL4A1c.3736C>A (p.Leu1246Met)
c.3544C>A (p.Leu1182Met)
 gnomAD v4
13g.110170554G>ACA484788854COL4A1c.3735C>T (p.Gly1245=)
c.3543C>T (p.Gly1181=)
 dbSNP gnomAD v2 gnomAD v4
13g.110170554G>CCA484788855COL4A1c.3735C>G (p.Gly1245=)
c.3543C>G (p.Gly1181=)
13g.110170554G=CA2118734057COL4A1c.3735C= (p.Gly1245=)
c.3543C= (p.Gly1181=)
13g.110170554G>TCA484788856COL4A1c.3735C>A (p.Gly1245=)
c.3543C>A (p.Gly1181=)
 gnomAD v4
13g.110170555C>ACA388662228COL4A1c.3734G>T (p.Gly1245Val)
c.3542G>T (p.Gly1181Val)
13g.110170555C>GCA388662230COL4A1c.3734G>C (p.Gly1245Ala)
c.3542G>C (p.Gly1181Ala)
13g.110170555C>TCA388662232COL4A1c.3734G>A (p.Gly1245Asp)
c.3542G>A (p.Gly1181Asp)
 ClinVar gnomAD v4
13g.110170556C>ACA388662238COL4A1c.3733G>T (p.Gly1245Cys)
c.3541G>T (p.Gly1181Cys)
13g.110170556C>GCA388662236COL4A1c.3733G>C (p.Gly1245Arg)
c.3541G>C (p.Gly1181Arg)
13g.110170556C>TCA388662235COL4A1c.3733G>A (p.Gly1245Ser)
c.3541G>A (p.Gly1181Ser)
13g.110170557A=CA2118734063COL4A1c.3732T= (p.Pro1244=)
c.3540T= (p.Pro1180=)
13g.110170557A>CCA484788857COL4A1c.3732T>G (p.Pro1244=)
c.3540T>G (p.Pro1180=)
13g.110170557A>GCA484788858COL4A1c.3732T>C (p.Pro1244=)
c.3540T>C (p.Pro1180=)
 dbSNP gnomAD v3 gnomAD v4
13g.110170557A>TCA7047165COL4A1c.3732T>A (p.Pro1244=)
c.3540T>A (p.Pro1180=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170558G>ACA388662244COL4A1c.3731C>T (p.Pro1244Leu)
c.3539C>T (p.Pro1180Leu)
13g.110170558G>CCA7047166COL4A1c.3731C>G (p.Pro1244Arg)
c.3539C>G (p.Pro1180Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.110170558G=CA2118734068COL4A1c.3731C= (p.Pro1244=)
c.3539C= (p.Pro1180=)
13g.110170558G>TCA388662242COL4A1c.3731C>A (p.Pro1244His)
c.3539C>A (p.Pro1180His)
13g.110170558_110170565delCA645573511COL4A1c.3724_3731del (p.Gly1242TrpfsTer18)
c.3532_3539del (p.Gly1178TrpfsTer18)
 COSMIC
13g.110170559G>ACA388662246COL4A1c.3730C>T (p.Pro1244Ser)
c.3538C>T (p.Pro1180Ser)
 dbSNP gnomAD v4
13g.110170559G>CCA388662248COL4A1c.3730C>G (p.Pro1244Ala)
c.3538C>G (p.Pro1180Ala)
13g.110170559G=CA2118734071COL4A1c.3730C= (p.Pro1244=)
c.3538C= (p.Pro1180=)
13g.110170559G>TCA388662249COL4A1c.3730C>A (p.Pro1244Thr)
c.3538C>A (p.Pro1180Thr)
 gnomAD v4
13g.110170560C>ACA388662251COL4A1c.3729G>T (p.Gln1243His)
c.3537G>T (p.Gln1179His)
 dbSNP gnomAD v4
13g.110170560C=CA2118734075COL4A1c.3729G= (p.Gln1243=)
c.3537G= (p.Gln1179=)
13g.110170560C>GCA388662253COL4A1c.3729G>C (p.Gln1243His)
c.3537G>C (p.Gln1179His)
13g.110170560C>TCA484788859COL4A1c.3729G>A (p.Gln1243=)
c.3537G>A (p.Gln1179=)
 gnomAD v4
13g.110170561T>ACA388662255COL4A1c.3728A>T (p.Gln1243Leu)
c.3536A>T (p.Gln1179Leu)
13g.110170561T>CCA388662257COL4A1c.3728A>G (p.Gln1243Arg)
c.3536A>G (p.Gln1179Arg)
 gnomAD v4
13g.110170561T>GCA388662259COL4A1c.3728A>C (p.Gln1243Pro)
c.3536A>C (p.Gln1179Pro)
13g.110170562G>ACA388662261COL4A1c.3727C>T (p.Gln1243Ter)
c.3535C>T (p.Gln1179Ter)
 gnomAD v4
13g.110170562G>CCA388662263COL4A1c.3727C>G (p.Gln1243Glu)
c.3535C>G (p.Gln1179Glu)
13g.110170562G>TCA388662265COL4A1c.3727C>A (p.Gln1243Lys)
c.3535C>A (p.Gln1179Lys)
 gnomAD v4
13g.110170563G>ACA484788860COL4A1c.3726C>T (p.Gly1242=)
c.3534C>T (p.Gly1178=)
13g.110170563G>CCA484788861COL4A1c.3726C>G (p.Gly1242=)
c.3534C>G (p.Gly1178=)
 COSMIC COSMIC
13g.110170563G>TCA484788862COL4A1c.3726C>A (p.Gly1242=)
c.3534C>A (p.Gly1178=)
13g.110170564C>ACA388662270COL4A1c.3725G>T (p.Gly1242Val)
c.3533G>T (p.Gly1178Val)
 gnomAD v4
13g.110170564C>GCA388662266COL4A1c.3725G>C (p.Gly1242Ala)
c.3533G>C (p.Gly1178Ala)
13g.110170564C>TCA388662268COL4A1c.3725G>A (p.Gly1242Asp)
c.3533G>A (p.Gly1178Asp)
13g.110170565C>ACA388662272COL4A1c.3724G>T (p.Gly1242Cys)
c.3532G>T (p.Gly1178Cys)
13g.110170565C>GCA388662274COL4A1c.3724G>C (p.Gly1242Arg)
c.3532G>C (p.Gly1178Arg)
13g.110170565C>TCA388662276COL4A1c.3724G>A (p.Gly1242Ser)
c.3532G>A (p.Gly1178Ser)
13g.110170566C>ACA388662278COL4A1c.3723G>T (p.Gln1241His)
c.3531G>T (p.Gln1177His)
13g.110170566C>GCA388662280COL4A1c.3723G>C (p.Gln1241His)
c.3531G>C (p.Gln1177His)
13g.110170566C>TCA484788863COL4A1c.3723G>A (p.Gln1241=)
c.3531G>A (p.Gln1177=)
 gnomAD v4
13g.110170567T>ACA388662282COL4A1c.3722A>T (p.Gln1241Leu)
c.3530A>T (p.Gln1177Leu)
13g.110170567T>CCA388662284COL4A1c.3722A>G (p.Gln1241Arg)
c.3530A>G (p.Gln1177Arg)
 dbSNP gnomAD v2 gnomAD v4
13g.110170567T>GCA388662285COL4A1c.3722A>C (p.Gln1241Pro)
c.3530A>C (p.Gln1177Pro)
13g.110170567T=CA2118734077COL4A1c.3722A= (p.Gln1241=)
c.3530A= (p.Gln1177=)
13g.110170568G>ACA388662286COL4A1c.3721C>T (p.Gln1241Ter)
c.3529C>T (p.Gln1177Ter)
13g.110170568G>CCA388662287COL4A1c.3721C>G (p.Gln1241Glu)
c.3529C>G (p.Gln1177Glu)
13g.110170568G>TCA388662289COL4A1c.3721C>A (p.Gln1241Lys)
c.3529C>A (p.Gln1177Lys)
 gnomAD v4
13g.110170568dupCA2839689379COL4A1c.3721dup (p.Gln1241ProfsTer22)
c.3529dup (p.Gln1177ProfsTer22)
13g.110170569A>CCA484788864COL4A1c.3720T>G (p.Pro1240=)
c.3528T>G (p.Pro1176=)
13g.110170569A>GCA484788865COL4A1c.3720T>C (p.Pro1240=)
c.3528T>C (p.Pro1176=)
13g.110170569A>TCA484788866COL4A1c.3720T>A (p.Pro1240=)
c.3528T>A (p.Pro1176=)
13g.110170570G>ACA388662292COL4A1c.3719C>T (p.Pro1240Leu)
c.3527C>T (p.Pro1176Leu)
 gnomAD v4
13g.110170570G>CCA388662290COL4A1c.3719C>G (p.Pro1240Arg)
c.3527C>G (p.Pro1176Arg)
13g.110170570G=CA2118734081COL4A1c.3719C= (p.Pro1240=)
c.3527C= (p.Pro1176=)
13g.110170570G>TCA7047167COL4A1c.3719C>A (p.Pro1240His)
c.3527C>A (p.Pro1176His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170571G>ACA388662295COL4A1c.3718C>T (p.Pro1240Ser)
c.3526C>T (p.Pro1176Ser)
13g.110170571G>CCA388662297COL4A1c.3718C>G (p.Pro1240Ala)
c.3526C>G (p.Pro1176Ala)
13g.110170571G>TCA388662299COL4A1c.3718C>A (p.Pro1240Thr)
c.3526C>A (p.Pro1176Thr)
 gnomAD v4
13g.110170572T>ACA484788867COL4A1c.3717A>T (p.Gly1239=)
c.3525A>T (p.Gly1175=)
13g.110170572T>CCA484788869COL4A1c.3717A>G (p.Gly1239=)
c.3525A>G (p.Gly1175=)
13g.110170572T>GCA484788868COL4A1c.3717A>C (p.Gly1239=)
c.3525A>C (p.Gly1175=)
 dbSNP
13g.110170572T=CA2118734084COL4A1c.3717A= (p.Gly1239=)
c.3525A= (p.Gly1175=)
13g.110170573C>ACA388662301COL4A1c.3716G>T (p.Gly1239Val)
c.3524G>T (p.Gly1175Val)
13g.110170573C>GCA388662303COL4A1c.3716G>C (p.Gly1239Ala)
c.3524G>C (p.Gly1175Ala)
 gnomAD v4
13g.110170573C>TCA388662305COL4A1c.3716G>A (p.Gly1239Glu)
c.3524G>A (p.Gly1175Glu)
13g.110170574C>ACA388662306COL4A1c.3715G>T (p.Gly1239Ter)
c.3523G>T (p.Gly1175Ter)
 gnomAD v4
13g.110170574C=CA2118734088COL4A1c.3715G= (p.Gly1239=)
c.3523G= (p.Gly1175=)
13g.110170574C>GCA388662307COL4A1c.3715G>C (p.Gly1239Arg)
c.3523G>C (p.Gly1175Arg)
13g.110170574C>TCA388662309COL4A1c.3715G>A (p.Gly1239Arg)
c.3523G>A (p.Gly1175Arg)
 ClinVar dbSNP COSMIC COSMIC
13g.110170575G>ACA7047168COL4A1c.3714C>T (p.Arg1238=)
c.3522C>T (p.Arg1174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.110170575G>CCA484788870COL4A1c.3714C>G (p.Arg1238=)
c.3522C>G (p.Arg1174=)
13g.110170575G=CA2118734097COL4A1c.3714C= (p.Arg1238=)
c.3522C= (p.Arg1174=)
13g.110170575G>TCA484788871COL4A1c.3714C>A (p.Arg1238=)
c.3522C>A (p.Arg1174=)
 gnomAD v4
13g.110170576C>ACA388662312COL4A1c.3713G>T (p.Arg1238Leu)
c.3521G>T (p.Arg1174Leu)
 gnomAD v4
13g.110170576C=CA2118734102COL4A1c.3713G= (p.Arg1238=)
c.3521G= (p.Arg1174=)
13g.110170576C>GCA388662315COL4A1c.3713G>C (p.Arg1238Pro)
c.3521G>C (p.Arg1174Pro)
13g.110170576C>TCA7047169COL4A1c.3713G>A (p.Arg1238His)
c.3521G>A (p.Arg1174His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170577G>ACA7047170COL4A1c.3712C>T (p.Arg1238Cys)
c.3520C>T (p.Arg1174Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.110170577G>CCA7047171COL4A1c.3712C>G (p.Arg1238Gly)
c.3520C>G (p.Arg1174Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.110170577G=CA2118734107COL4A1c.3712C= (p.Arg1238=)
c.3520C= (p.Arg1174=)
13g.110170577G>TCA388662319COL4A1c.3712C>A (p.Arg1238Ser)
c.3520C>A (p.Arg1174Ser)
 gnomAD v4
13g.110170578G>ACA484788872COL4A1c.3711C>T (p.Asp1237=)
c.3519C>T (p.Asp1173=)
13g.110170578G>CCA7047172COL4A1c.3711C>G (p.Asp1237Glu)
c.3519C>G (p.Asp1173Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170578G=CA2118734110COL4A1c.3711C= (p.Asp1237=)
c.3519C= (p.Asp1173=)
13g.110170578G>TCA388662324COL4A1c.3711C>A (p.Asp1237Glu)
c.3519C>A (p.Asp1173Glu)
13g.110170579T>ACA388662326COL4A1c.3710A>T (p.Asp1237Val)
c.3518A>T (p.Asp1173Val)
13g.110170579T>CCA388662328COL4A1c.3710A>G (p.Asp1237Gly)
c.3518A>G (p.Asp1173Gly)
13g.110170579T>GCA388662330COL4A1c.3710A>C (p.Asp1237Ala)
c.3518A>C (p.Asp1173Ala)
13g.110170580C>ACA388662332COL4A1c.3709G>T (p.Asp1237Tyr)
c.3517G>T (p.Asp1173Tyr)
 gnomAD v4
13g.110170580C>GCA388662334COL4A1c.3709G>C (p.Asp1237His)
c.3517G>C (p.Asp1173His)
13g.110170580C>TCA388662336COL4A1c.3709G>A (p.Asp1237Asn)
c.3517G>A (p.Asp1173Asn)
13g.110170581T>ACA484788873COL4A1c.3708A>T (p.Gly1236=)
c.3516A>T (p.Gly1172=)
13g.110170581T>CCA484788874COL4A1c.3708A>G (p.Gly1236=)
c.3516A>G (p.Gly1172=)
13g.110170581T>GCA484788875COL4A1c.3708A>C (p.Gly1236=)
c.3516A>C (p.Gly1172=)
13g.110170582C>ACA388662339COL4A1c.3707G>T (p.Gly1236Val)
c.3515G>T (p.Gly1172Val)
 ClinVar
13g.110170582C>GCA388662340COL4A1c.3707G>C (p.Gly1236Ala)
c.3515G>C (p.Gly1172Ala)
13g.110170582C>TCA388662342COL4A1c.3707G>A (p.Gly1236Glu)
c.3515G>A (p.Gly1172Glu)
13g.110170583C>ACA388662346COL4A1c.3706G>T (p.Gly1236Ter)
c.3514G>T (p.Gly1172Ter)
13g.110170583C=CA2118734117COL4A1c.3706G= (p.Gly1236=)
c.3514G= (p.Gly1172=)
13g.110170583C>GCA388662344COL4A1c.3706G>C (p.Gly1236Arg)
c.3514G>C (p.Gly1172Arg)
13g.110170583C>TCA341444COL4A1c.3706G>A (p.Gly1236Arg)
c.3514G>A (p.Gly1172Arg)
 ClinVar dbSNP
13g.110170584T>ACA388662348COL4A1c.3705A>T (p.Lys1235Asn)
c.3513A>T (p.Lys1171Asn)
13g.110170584T>CCA484788876COL4A1c.3705A>G (p.Lys1235=)
c.3513A>G (p.Lys1171=)
13g.110170584T>GCA388662350COL4A1c.3705A>C (p.Lys1235Asn)
c.3513A>C (p.Lys1171Asn)
13g.110170585T>ACA388662352COL4A1c.3704A>T (p.Lys1235Ile)
c.3512A>T (p.Lys1171Ile)
13g.110170585T>CCA7047173COL4A1c.3704A>G (p.Lys1235Arg)
c.3512A>G (p.Lys1171Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.110170585T>GCA388662354COL4A1c.3704A>C (p.Lys1235Thr)
c.3512A>C (p.Lys1171Thr)
13g.110170585T=CA2118734122COL4A1c.3704A= (p.Lys1235=)
c.3512A= (p.Lys1171=)
13g.110170586T>ACA388662356COL4A1c.3703A>T (p.Lys1235Ter)
c.3511A>T (p.Lys1171Ter)
13g.110170586T>CCA388662358COL4A1c.3703A>G (p.Lys1235Glu)
c.3511A>G (p.Lys1171Glu)
13g.110170586T>GCA388662360COL4A1c.3703A>C (p.Lys1235Gln)
c.3511A>C (p.Lys1171Gln)
13g.110170587G>ACA484788877COL4A1c.3702C>T (p.Pro1234=)
c.3510C>T (p.Pro1170=)
13g.110170587G>CCA484788878COL4A1c.3702C>G (p.Pro1234=)
c.3510C>G (p.Pro1170=)
 dbSNP
13g.110170587G=CA2118734126COL4A1c.3702C= (p.Pro1234=)
c.3510C= (p.Pro1170=)
13g.110170587G>TCA484788879COL4A1c.3702C>A (p.Pro1234=)
c.3510C>A (p.Pro1170=)
 gnomAD v4
13g.110170589delCA2695219012COL4A1c.3702del (p.Gly1236GlufsTer?)
c.3510del (p.Gly1172GlufsTer?)
13g.110170588G>ACA7047174COL4A1c.3701C>T (p.Pro1234Leu)
c.3509C>T (p.Pro1170Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170588G>CCA388662362COL4A1c.3701C>G (p.Pro1234Arg)
c.3509C>G (p.Pro1170Arg)
13g.110170588G=CA2118734129COL4A1c.3701C= (p.Pro1234=)
c.3509C= (p.Pro1170=)
13g.110170588G>TCA388662364COL4A1c.3701C>A (p.Pro1234His)
c.3509C>A (p.Pro1170His)
 COSMIC COSMIC
13g.110170589G>ACA388662366COL4A1c.3700C>T (p.Pro1234Ser)
c.3508C>T (p.Pro1170Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.110170589G>CCA388662367COL4A1c.3700C>G (p.Pro1234Ala)
c.3508C>G (p.Pro1170Ala)
13g.110170589G=CA2118734135COL4A1c.3700C= (p.Pro1234=)
c.3508C= (p.Pro1170=)
13g.110170589G>TCA388662368COL4A1c.3700C>A (p.Pro1234Thr)
c.3508C>A (p.Pro1170Thr)
13g.110170590C>ACA484788880COL4A1c.3699G>T (p.Gly1233=)
c.3507G>T (p.Gly1169=)
 dbSNP gnomAD v2 gnomAD v4
13g.110170590C=CA2118734140COL4A1c.3699G= (p.Gly1233=)
c.3507G= (p.Gly1169=)
13g.110170590C>GCA484788881COL4A1c.3699G>C (p.Gly1233=)
c.3507G>C (p.Gly1169=)
13g.110170590C>TCA484788882COL4A1c.3699G>A (p.Gly1233=)
c.3507G>A (p.Gly1169=)
 gnomAD v4
13g.110170591C>ACA388662371COL4A1c.3698G>T (p.Gly1233Val)
c.3506G>T (p.Gly1169Val)
13g.110170591C=CA2118734145COL4A1c.3698G= (p.Gly1233=)
c.3506G= (p.Gly1169=)
13g.110170591C>GCA388662369COL4A1c.3698G>C (p.Gly1233Ala)
c.3506G>C (p.Gly1169Ala)
13g.110170591C>TCA388662370COL4A1c.3698G>A (p.Gly1233Glu)
c.3506G>A (p.Gly1169Glu)
 ClinVar dbSNP gnomAD v2
13g.110170592C>ACA388662372COL4A1c.3697G>T (p.Gly1233Trp)
c.3505G>T (p.Gly1169Trp)
13g.110170592C>GCA388662373COL4A1c.3697G>C (p.Gly1233Arg)
c.3505G>C (p.Gly1169Arg)
13g.110170592C>TCA388662374COL4A1c.3697G>A (p.Gly1233Arg)
c.3505G>A (p.Gly1169Arg)
13g.110170593C>ACA388662375COL4A1c.3696G>T (p.Glu1232Asp)
c.3504G>T (p.Glu1168Asp)
13g.110170593C>GCA388662376COL4A1c.3696G>C (p.Glu1232Asp)
c.3504G>C (p.Glu1168Asp)
13g.110170593C>TCA484788883COL4A1c.3696G>A (p.Glu1232=)
c.3504G>A (p.Glu1168=)
 ClinVar
13g.110170594T>ACA388662377COL4A1c.3695A>T (p.Glu1232Val)
c.3503A>T (p.Glu1168Val)
13g.110170594T>CCA388662378COL4A1c.3695A>G (p.Glu1232Gly)
c.3503A>G (p.Glu1168Gly)
13g.110170594T>GCA388662379COL4A1c.3695A>C (p.Glu1232Ala)
c.3503A>C (p.Glu1168Ala)
 gnomAD v4
13g.110170595C>ACA388662380COL4A1c.3694G>T (p.Glu1232Ter)
c.3502G>T (p.Glu1168Ter)
13g.110170595C>GCA388662381COL4A1c.3694G>C (p.Glu1232Gln)
c.3502G>C (p.Glu1168Gln)
 gnomAD v4
13g.110170595C>TCA388662382COL4A1c.3694G>A (p.Glu1232Lys)
c.3502G>A (p.Glu1168Lys)
13g.110170596C>ACA484788884COL4A1c.3693G>T (p.Thr1231=)
c.3501G>T (p.Thr1167=)
13g.110170596C=CA2118734151COL4A1c.3693G= (p.Thr1231=)
c.3501G= (p.Thr1167=)
13g.110170596C>GCA484788885COL4A1c.3693G>C (p.Thr1231=)
c.3501G>C (p.Thr1167=)
13g.110170596C>TCA7047175COL4A1c.3693G>A (p.Thr1231=)
c.3501G>A (p.Thr1167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170597G>ACA7047176COL4A1c.3692C>T (p.Thr1231Met)
c.3500C>T (p.Thr1167Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.110170597G>CCA388662387COL4A1c.3692C>G (p.Thr1231Arg)
c.3500C>G (p.Thr1167Arg)
13g.110170597G=CA2118734156COL4A1c.3692C= (p.Thr1231=)
c.3500C= (p.Thr1167=)
13g.110170597G>TCA388662385COL4A1c.3692C>A (p.Thr1231Lys)
c.3500C>A (p.Thr1167Lys)
13g.110170598T>ACA388662394COL4A1c.3691A>T (p.Thr1231Ser)
c.3499A>T (p.Thr1167Ser)
13g.110170598T>CCA388662390COL4A1c.3691A>G (p.Thr1231Ala)
c.3499A>G (p.Thr1167Ala)
13g.110170598T>GCA388662392COL4A1c.3691A>C (p.Thr1231Pro)
c.3499A>C (p.Thr1167Pro)
13g.110170599G>ACA484788886COL4A1c.3690C>T (p.Ala1230=)
c.3498C>T (p.Ala1166=)
13g.110170599G>CCA484788887COL4A1c.3690C>G (p.Ala1230=)
c.3498C>G (p.Ala1166=)
 COSMIC COSMIC
13g.110170599G>TCA484788888COL4A1c.3690C>A (p.Ala1230=)
c.3498C>A (p.Ala1166=)
13g.110170600G>ACA388662397COL4A1c.3689C>T (p.Ala1230Val)
c.3497C>T (p.Ala1166Val)
 gnomAD v4
13g.110170600G>CCA256251549COL4A1c.3689C>G (p.Ala1230Gly)
c.3497C>G (p.Ala1166Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.110170600G=CA2118734161COL4A1c.3689C= (p.Ala1230=)
c.3497C= (p.Ala1166=)
13g.110170600G>TCA388662399COL4A1c.3689C>A (p.Ala1230Asp)
c.3497C>A (p.Ala1166Asp)

Number of alleles fetched