Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108622707_108622759delCA2566557330COL4A5c.2799_2851del (p.Pro934SerfsTer?)
n.2255_2307del
c.32_84del
c.2475_2527del (p.Pro826SerfsTer?)
c.372_424del (p.Pro125SerfsTer?)
c.2814_2866del (p.Pro939SerfsTer?)
c.1134_1186del (p.Pro379SerfsTer?)
Xg.108622711_108622716delCA2695235223COL4A5c.2803_2808del (p.Gly935_Pro936del)
n.2259_2264del
c.36_41del
c.2479_2484del (p.Gly827_Pro828del)
c.376_381del (p.Gly126_Pro127del)
c.2818_2823del (p.Gly940_Pro941del)
c.1138_1143del (p.Gly380_Pro381del)
Xg.108622710T>ACA517924738COL4A5c.2802T>A (p.Pro934=)
n.2258T>A
c.35T>A
c.2478T>A (p.Pro826=)
c.375T>A (p.Pro125=)
c.2817T>A (p.Pro939=)
c.1137T>A (p.Pro379=)
Xg.108622710T>CCA517924739COL4A5c.2802T>C (p.Pro934=)
n.2258T>C
c.35T>C
c.2478T>C (p.Pro826=)
c.375T>C (p.Pro125=)
c.2817T>C (p.Pro939=)
c.1137T>C (p.Pro379=)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108622710T>GCA517924740COL4A5c.2802T>G (p.Pro934=)
n.2258T>G
c.35T>G
c.2478T>G (p.Pro826=)
c.375T>G (p.Pro125=)
c.2817T>G (p.Pro939=)
c.1137T>G (p.Pro379=)
Xg.108622710T=CA2450696859COL4A5c.2802T= (p.Pro934=)
n.2258T=
c.35T=
c.2478T= (p.Pro826=)
c.375T= (p.Pro125=)
c.2817T= (p.Pro939=)
c.1137T= (p.Pro379=)
Xg.108622710dupCA258765COL4A5c.2802dup (p.Gly935TrpfsTer8)
n.2258dup
c.35dup
c.2478dup (p.Gly827TrpfsTer8)
c.375dup (p.Gly126TrpfsTer8)
c.2817dup (p.Gly940TrpfsTer8)
c.1137dup (p.Gly380TrpfsTer8)
ClinVar dbSNP
Xg.108622711G>ACA413852644COL4A5c.2803G>A (p.Gly935Ser)
n.2259G>A
c.36G>A
c.2479G>A (p.Gly827Ser)
c.376G>A (p.Gly126Ser)
c.2818G>A (p.Gly940Ser)
c.1138G>A (p.Gly380Ser)
Xg.108622711G>CCA413852640COL4A5c.2803G>C (p.Gly935Arg)
n.2259G>C
c.36G>C
c.2479G>C (p.Gly827Arg)
c.376G>C (p.Gly126Arg)
c.2818G>C (p.Gly940Arg)
c.1138G>C (p.Gly380Arg)
Xg.108622711G>TCA413852642COL4A5c.2803G>T (p.Gly935Cys)
n.2259G>T
c.36G>T
c.2479G>T (p.Gly827Cys)
c.376G>T (p.Gly126Cys)
c.2818G>T (p.Gly940Cys)
c.1138G>T (p.Gly380Cys)
Xg.108622712G>ACA258766COL4A5c.2804G>A (p.Gly935Asp)
n.2260G>A
c.37G>A
c.2480G>A (p.Gly827Asp)
c.377G>A (p.Gly126Asp)
c.2819G>A (p.Gly940Asp)
c.1139G>A (p.Gly380Asp)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108622712G>CCA413852646COL4A5c.2804G>C (p.Gly935Ala)
n.2260G>C
c.37G>C
c.2480G>C (p.Gly827Ala)
c.377G>C (p.Gly126Ala)
c.2819G>C (p.Gly940Ala)
c.1139G>C (p.Gly380Ala)
Xg.108622712G=CA2450696860COL4A5c.2804G= (p.Gly935=)
n.2260G=
c.37G=
c.2480G= (p.Gly827=)
c.377G= (p.Gly126=)
c.2819G= (p.Gly940=)
c.1139G= (p.Gly380=)
Xg.108622712G>TCA413852648COL4A5c.2804G>T (p.Gly935Val)
n.2260G>T
c.37G>T
c.2480G>T (p.Gly827Val)
c.377G>T (p.Gly126Val)
c.2819G>T (p.Gly940Val)
c.1139G>T (p.Gly380Val)
dbSNP gnomAD v2 gnomAD v4
Xg.108622713C>ACA517924741COL4A5c.2805C>A (p.Gly935=)
n.2261C>A
c.38C>A
c.2481C>A (p.Gly827=)
c.378C>A (p.Gly126=)
c.2820C>A (p.Gly940=)
c.1140C>A (p.Gly380=)
gnomAD v4
Xg.108622713C>GCA517924742COL4A5c.2805C>G (p.Gly935=)
n.2261C>G
c.38C>G
c.2481C>G (p.Gly827=)
c.378C>G (p.Gly126=)
c.2820C>G (p.Gly940=)
c.1140C>G (p.Gly380=)
Xg.108622713C>TCA517924743COL4A5c.2805C>T (p.Gly935=)
n.2261C>T
c.38C>T
c.2481C>T (p.Gly827=)
c.378C>T (p.Gly126=)
c.2820C>T (p.Gly940=)
c.1140C>T (p.Gly380=)
Xg.108622714C>ACA413852651COL4A5c.2806C>A (p.Pro936Thr)
n.2262C>A
c.39C>A
c.2482C>A (p.Pro828Thr)
c.379C>A (p.Pro127Thr)
c.2821C>A (p.Pro941Thr)
c.1141C>A (p.Pro381Thr)
Xg.108622714C>GCA413852653COL4A5c.2806C>G (p.Pro936Ala)
n.2262C>G
c.39C>G
c.2482C>G (p.Pro828Ala)
c.379C>G (p.Pro127Ala)
c.2821C>G (p.Pro941Ala)
c.1141C>G (p.Pro381Ala)
Xg.108622714C>TCA413852655COL4A5c.2806C>T (p.Pro936Ser)
n.2262C>T
c.39C>T
c.2482C>T (p.Pro828Ser)
c.379C>T (p.Pro127Ser)
c.2821C>T (p.Pro941Ser)
c.1141C>T (p.Pro381Ser)
Xg.108622715C>ACA413852657COL4A5c.2807C>A (p.Pro936His)
n.2263C>A
c.40C>A
c.2483C>A (p.Pro828His)
c.380C>A (p.Pro127His)
c.2822C>A (p.Pro941His)
c.1142C>A (p.Pro381His)
Xg.108622715C=CA2450696861COL4A5c.2807C= (p.Pro936=)
n.2263C=
c.40C=
c.2483C= (p.Pro828=)
c.380C= (p.Pro127=)
c.2822C= (p.Pro941=)
c.1142C= (p.Pro381=)
Xg.108622715C>GCA413852659COL4A5c.2807C>G (p.Pro936Arg)
n.2263C>G
c.40C>G
c.2483C>G (p.Pro828Arg)
c.380C>G (p.Pro127Arg)
c.2822C>G (p.Pro941Arg)
c.1142C>G (p.Pro381Arg)
ClinVar
Xg.108622715C>TCA413852660COL4A5c.2807C>T (p.Pro936Leu)
n.2263C>T
c.40C>T
c.2483C>T (p.Pro828Leu)
c.380C>T (p.Pro127Leu)
c.2822C>T (p.Pro941Leu)
c.1142C>T (p.Pro381Leu)
dbSNP
Xg.108622716T>ACA517924744COL4A5c.2808T>A (p.Pro936=)
n.2264T>A
c.41T>A
c.2484T>A (p.Pro828=)
c.381T>A (p.Pro127=)
c.2823T>A (p.Pro941=)
c.1143T>A (p.Pro381=)
Xg.108622716T>CCA517924745COL4A5c.2808T>C (p.Pro936=)
n.2264T>C
c.41T>C
c.2484T>C (p.Pro828=)
c.381T>C (p.Pro127=)
c.2823T>C (p.Pro941=)
c.1143T>C (p.Pro381=)
gnomAD v4
Xg.108622716T>GCA517924746COL4A5c.2808T>G (p.Pro936=)
n.2264T>G
c.41T>G
c.2484T>G (p.Pro828=)
c.381T>G (p.Pro127=)
c.2823T>G (p.Pro941=)
c.1143T>G (p.Pro381=)
Xg.108622717A>CCA413852663COL4A5c.2809A>C (p.Thr937Pro)
n.2265A>C
c.42A>C
c.2485A>C (p.Thr829Pro)
c.382A>C (p.Thr128Pro)
c.2824A>C (p.Thr942Pro)
c.1144A>C (p.Thr382Pro)
Xg.108622717A>GCA413852665COL4A5c.2809A>G (p.Thr937Ala)
n.2265A>G
c.42A>G
c.2485A>G (p.Thr829Ala)
c.382A>G (p.Thr128Ala)
c.2824A>G (p.Thr942Ala)
c.1144A>G (p.Thr382Ala)
Xg.108622717A>TCA413852667COL4A5c.2809A>T (p.Thr937Ser)
n.2265A>T
c.42A>T
c.2485A>T (p.Thr829Ser)
c.382A>T (p.Thr128Ser)
c.2824A>T (p.Thr942Ser)
c.1144A>T (p.Thr382Ser)
Xg.108622718C>ACA413852672COL4A5c.2810C>A (p.Thr937Lys)
n.2266C>A
c.43C>A
c.2486C>A (p.Thr829Lys)
c.383C>A (p.Thr128Lys)
c.2825C>A (p.Thr942Lys)
c.1145C>A (p.Thr382Lys)
Xg.108622718C>GCA413852671COL4A5c.2810C>G (p.Thr937Arg)
n.2266C>G
c.43C>G
c.2486C>G (p.Thr829Arg)
c.383C>G (p.Thr128Arg)
c.2825C>G (p.Thr942Arg)
c.1145C>G (p.Thr382Arg)
Xg.108622718C>TCA413852670COL4A5c.2810C>T (p.Thr937Ile)
n.2266C>T
c.43C>T
c.2486C>T (p.Thr829Ile)
c.383C>T (p.Thr128Ile)
c.2825C>T (p.Thr942Ile)
c.1145C>T (p.Thr382Ile)
Xg.108622719A=CA2450696862COL4A5c.2811A= (p.Thr937=)
n.2267A=
c.44A=
c.2487A= (p.Thr829=)
c.384A= (p.Thr128=)
c.2826A= (p.Thr942=)
c.1146A= (p.Thr382=)
Xg.108622719A>CCA517924747COL4A5c.2811A>C (p.Thr937=)
n.2267A>C
c.44A>C
c.2487A>C (p.Thr829=)
c.384A>C (p.Thr128=)
c.2826A>C (p.Thr942=)
c.1146A>C (p.Thr382=)
Xg.108622719A>GCA517924748COL4A5c.2811A>G (p.Thr937=)
n.2267A>G
c.44A>G
c.2487A>G (p.Thr829=)
c.384A>G (p.Thr128=)
c.2826A>G (p.Thr942=)
c.1146A>G (p.Thr382=)
Xg.108622719A>TCA517924749COL4A5c.2811A>T (p.Thr937=)
n.2267A>T
c.44A>T
c.2487A>T (p.Thr829=)
c.384A>T (p.Thr128=)
c.2826A>T (p.Thr942=)
c.1146A>T (p.Thr382=)
dbSNP
Xg.108622720G>ACA413852677COL4A5c.2812G>A (p.Gly938Arg)
n.2268G>A
c.45G>A
c.2488G>A (p.Gly830Arg)
c.385G>A (p.Gly129Arg)
c.2827G>A (p.Gly943Arg)
c.1147G>A (p.Gly383Arg)
Xg.108622720G>CCA413852675COL4A5c.2812G>C (p.Gly938Arg)
n.2268G>C
c.45G>C
c.2488G>C (p.Gly830Arg)
c.385G>C (p.Gly129Arg)
c.2827G>C (p.Gly943Arg)
c.1147G>C (p.Gly383Arg)
Xg.108622720G>TCA413852680COL4A5c.2812G>T (p.Gly938Ter)
n.2268G>T
c.45G>T
c.2488G>T (p.Gly830Ter)
c.385G>T (p.Gly129Ter)
c.2827G>T (p.Gly943Ter)
c.1147G>T (p.Gly383Ter)
Xg.108622721G>ACA413852681COL4A5c.2813G>A (p.Gly938Glu)
n.2269G>A
c.46G>A
c.2489G>A (p.Gly830Glu)
c.386G>A (p.Gly129Glu)
c.2828G>A (p.Gly943Glu)
c.1148G>A (p.Gly383Glu)
gnomAD v4 COSMIC COSMIC
Xg.108622721G>CCA413852683COL4A5c.2813G>C (p.Gly938Ala)
n.2269G>C
c.46G>C
c.2489G>C (p.Gly830Ala)
c.386G>C (p.Gly129Ala)
c.2828G>C (p.Gly943Ala)
c.1148G>C (p.Gly383Ala)
Xg.108622721G>TCA413852685COL4A5c.2813G>T (p.Gly938Val)
n.2269G>T
c.46G>T
c.2489G>T (p.Gly830Val)
c.386G>T (p.Gly129Val)
c.2828G>T (p.Gly943Val)
c.1148G>T (p.Gly383Val)
Xg.108622722A>CCA517924750COL4A5c.2814A>C (p.Gly938=)
n.2270A>C
c.47A>C
c.2490A>C (p.Gly830=)
c.387A>C (p.Gly129=)
c.2829A>C (p.Gly943=)
c.1149A>C (p.Gly383=)
Xg.108622722A>GCA517924751COL4A5c.2814A>G (p.Gly938=)
n.2270A>G
c.47A>G
c.2490A>G (p.Gly830=)
c.387A>G (p.Gly129=)
c.2829A>G (p.Gly943=)
c.1149A>G (p.Gly383=)
Xg.108622722A>TCA517924752COL4A5c.2814A>T (p.Gly938=)
n.2270A>T
c.47A>T
c.2490A>T (p.Gly830=)
c.387A>T (p.Gly129=)
c.2829A>T (p.Gly943=)
c.1149A>T (p.Gly383=)
Xg.108622723G>ACA413852687COL4A5c.2815G>A (p.Glu939Lys)
n.2271G>A
c.48G>A
c.2491G>A (p.Glu831Lys)
c.388G>A (p.Glu130Lys)
c.2830G>A (p.Glu944Lys)
c.1150G>A (p.Glu384Lys)
Xg.108622723G>CCA413852688COL4A5c.2815G>C (p.Glu939Gln)
n.2271G>C
c.48G>C
c.2491G>C (p.Glu831Gln)
c.388G>C (p.Glu130Gln)
c.2830G>C (p.Glu944Gln)
c.1150G>C (p.Glu384Gln)
Xg.108622723G=CA2450696863COL4A5c.2815G= (p.Glu939=)
n.2271G=
c.48G=
c.2491G= (p.Glu831=)
c.388G= (p.Glu130=)
c.2830G= (p.Glu944=)
c.1150G= (p.Glu384=)
Xg.108622723G>TCA413852690COL4A5c.2815G>T (p.Glu939Ter)
n.2271G>T
c.48G>T
c.2491G>T (p.Glu831Ter)
c.388G>T (p.Glu130Ter)
c.2830G>T (p.Glu944Ter)
c.1150G>T (p.Glu384Ter)

Number of alleles fetched