Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108586645A=CA2450684995COL4A5c.1063A= (p.Ile355=)
n.519A=
c.739A= (p.Ile247=)
c.1078A= (p.Ile360=)
c.-647A= (n.-647A=)
Xg.108586645A>CCA334181567COL4A5c.1063A>C (p.Ile355Leu)
n.519A>C
c.739A>C (p.Ile247Leu)
c.1078A>C (p.Ile360Leu)
c.-647A>C (n.-647A>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108586645A>GCA413930002COL4A5c.1063A>G (p.Ile355Val)
n.519A>G
c.739A>G (p.Ile247Val)
c.1078A>G (p.Ile360Val)
c.-647A>G (n.-647A>G)
 ClinVar gnomAD v4
Xg.108586645A>TCA413930023COL4A5c.1063A>T (p.Ile355Leu)
n.519A>T
c.739A>T (p.Ile247Leu)
c.1078A>T (p.Ile360Leu)
c.-647A>T (n.-647A>T)
Xg.108586646T>ACA413930027COL4A5c.1064T>A (p.Ile355Lys)
n.520T>A
c.740T>A (p.Ile247Lys)
c.1079T>A (p.Ile360Lys)
c.-646T>A (n.-646T>A)
Xg.108586646T>CCA413930031COL4A5c.1064T>C (p.Ile355Thr)
n.520T>C
c.740T>C (p.Ile247Thr)
c.1079T>C (p.Ile360Thr)
c.-646T>C (n.-646T>C)
 gnomAD v4
Xg.108586646T>GCA413930041COL4A5c.1064T>G (p.Ile355Arg)
n.520T>G
c.740T>G (p.Ile247Arg)
c.1079T>G (p.Ile360Arg)
c.-646T>G (n.-646T>G)
Xg.108586647A>CCA517992049COL4A5c.1065A>C (p.Ile355=)
n.521A>C
c.741A>C (p.Ile247=)
c.1080A>C (p.Ile360=)
c.-645A>C (n.-645A>C)
Xg.108586647A>GCA413930054COL4A5c.1065A>G (p.Ile355Met)
n.521A>G
c.741A>G (p.Ile247Met)
c.1080A>G (p.Ile360Met)
c.-645A>G (n.-645A>G)
 gnomAD v4
Xg.108586647A>TCA517992050COL4A5c.1065A>T (p.Ile355=)
n.521A>T
c.741A>T (p.Ile247=)
c.1080A>T (p.Ile360=)
c.-645A>T (n.-645A>T)
Xg.108586647_108586683delinsAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTCA2450684996COL4A5c.1065_1101delinsAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT (p.Ile355=)
n.521_557delinsAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT
c.741_777delinsAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT (p.Ile247=)
c.1080_1116delinsAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT (p.Ile360=)
c.-645_-609delinsAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT (n.-645_-609delinsAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT)
Xg.108586648G>ACA413930059COL4A5c.1066G>A (p.Gly356Arg)
n.522G>A
c.742G>A (p.Gly248Arg)
c.1081G>A (p.Gly361Arg)
c.-644G>A (n.-644G>A)
 gnomAD v4
Xg.108586648G>CCA413930062COL4A5c.1066G>C (p.Gly356Arg)
n.522G>C
c.742G>C (p.Gly248Arg)
c.1081G>C (p.Gly361Arg)
c.-644G>C (n.-644G>C)
Xg.108586648G>TCA413930067COL4A5c.1066G>T (p.Gly356Ter)
n.522G>T
c.742G>T (p.Gly248Ter)
c.1081G>T (p.Gly361Ter)
c.-644G>T (n.-644G>T)
Xg.108586660_108586695delCA891843917COL4A5c.1078_1113del (p.Asn360_Gly371del)
n.534_569del
c.754_789del (p.Asn252_Gly263del)
c.1093_1128del (p.Asn365_Gly376del)
c.-632_-597del (n.-632_-597del)
Xg.108586649G>ACA10488673COL4A5c.1067G>A (p.Gly356Glu)
n.523G>A
c.743G>A (p.Gly248Glu)
c.1082G>A (p.Gly361Glu)
c.-643G>A (n.-643G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108586649G>CCA413930069COL4A5c.1067G>C (p.Gly356Ala)
n.523G>C
c.743G>C (p.Gly248Ala)
c.1082G>C (p.Gly361Ala)
c.-643G>C (n.-643G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108586649G=CA2450684997COL4A5c.1067G= (p.Gly356=)
n.523G=
c.743G= (p.Gly248=)
c.1082G= (p.Gly361=)
c.-643G= (n.-643G=)
Xg.108586649G>TCA413930068COL4A5c.1067G>T (p.Gly356Val)
n.523G>T
c.743G>T (p.Gly248Val)
c.1082G>T (p.Gly361Val)
c.-643G>T (n.-643G>T)
Xg.108586650A>CCA517992051COL4A5c.1068A>C (p.Gly356=)
n.524A>C
c.744A>C (p.Gly248=)
c.1083A>C (p.Gly361=)
c.-642A>C (n.-642A>C)
Xg.108586650A>GCA517992052COL4A5c.1068A>G (p.Gly356=)
n.524A>G
c.744A>G (p.Gly248=)
c.1083A>G (p.Gly361=)
c.-642A>G (n.-642A>G)
Xg.108586650A>TCA517992053COL4A5c.1068A>T (p.Gly356=)
n.524A>T
c.744A>T (p.Gly248=)
c.1083A>T (p.Gly361=)
c.-642A>T (n.-642A>T)
Xg.108586651G>ACA413930074COL4A5c.1069G>A (p.Glu357Lys)
n.525G>A
c.745G>A (p.Glu249Lys)
c.1084G>A (p.Glu362Lys)
c.-641G>A (n.-641G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108586651G>CCA413930077COL4A5c.1069G>C (p.Glu357Gln)
n.525G>C
c.745G>C (p.Glu249Gln)
c.1084G>C (p.Glu362Gln)
c.-641G>C (n.-641G>C)
Xg.108586651G=CA2450684999COL4A5c.1069G= (p.Glu357=)
n.525G=
c.745G= (p.Glu249=)
c.1084G= (p.Glu362=)
c.-641G= (n.-641G=)
Xg.108586651G>TCA413930081COL4A5c.1069G>T (p.Glu357Ter)
n.525G>T
c.745G>T (p.Glu249Ter)
c.1084G>T (p.Glu362Ter)
c.-641G>T (n.-641G>T)
Xg.108586651_108586652delinsGACA2450684998COL4A5c.1069_1070delinsGA (p.Glu357=)
n.525_526delinsGA
c.745_746delinsGA (p.Glu249=)
c.1084_1085delinsGA (p.Glu362=)
c.-641_-640delinsGA (n.-641_-640delinsGA)
Xg.108586652A>CCA413930098COL4A5c.1070A>C (p.Glu357Ala)
n.526A>C
c.746A>C (p.Glu249Ala)
c.1085A>C (p.Glu362Ala)
c.-640A>C (n.-640A>C)
Xg.108586652A>GCA413930114COL4A5c.1070A>G (p.Glu357Gly)
n.526A>G
c.746A>G (p.Glu249Gly)
c.1085A>G (p.Glu362Gly)
c.-640A>G (n.-640A>G)
Xg.108586652A>TCA413930118COL4A5c.1070A>T (p.Glu357Val)
n.526A>T
c.746A>T (p.Glu249Val)
c.1085A>T (p.Glu362Val)
c.-640A>T (n.-640A>T)
Xg.108586656delCA258393COL4A5c.1074del (p.Gly359GlufsTer?)
n.530del
c.750del (p.Gly251GlufsTer?)
c.1089del (p.Gly364GlufsTer?)
c.-636del (n.-636del)
 dbSNP gnomAD v4
Xg.108586653A=CA2450685000COL4A5c.1071A= (p.Glu357=)
n.527A=
c.747A= (p.Glu249=)
c.1086A= (p.Glu362=)
c.-639A= (n.-639A=)
Xg.108586653A>CCA413930130COL4A5c.1071A>C (p.Glu357Asp)
n.527A>C
c.747A>C (p.Glu249Asp)
c.1086A>C (p.Glu362Asp)
c.-639A>C (n.-639A>C)
Xg.108586653A>GCA517992054COL4A5c.1071A>G (p.Glu357=)
n.527A>G
c.747A>G (p.Glu249=)
c.1086A>G (p.Glu362=)
c.-639A>G (n.-639A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108586653A>TCA413930138COL4A5c.1071A>T (p.Glu357Asp)
n.527A>T
c.747A>T (p.Glu249Asp)
c.1086A>T (p.Glu362Asp)
c.-639A>T (n.-639A>T)
 gnomAD v4 COSMIC COSMIC
Xg.108586654A=CA2450685001COL4A5c.1072A= (p.Lys358=)
n.528A=
c.748A= (p.Lys250=)
c.1087A= (p.Lys363=)
c.-638A= (n.-638A=)
Xg.108586654A>CCA413930152COL4A5c.1072A>C (p.Lys358Gln)
n.528A>C
c.748A>C (p.Lys250Gln)
c.1087A>C (p.Lys363Gln)
c.-638A>C (n.-638A>C)
Xg.108586654A>GCA10488674COL4A5c.1072A>G (p.Lys358Glu)
n.528A>G
c.748A>G (p.Lys250Glu)
c.1087A>G (p.Lys363Glu)
c.-638A>G (n.-638A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108586654A>TCA413930163COL4A5c.1072A>T (p.Lys358Ter)
n.528A>T
c.748A>T (p.Lys250Ter)
c.1087A>T (p.Lys363Ter)
c.-638A>T (n.-638A>T)
Xg.108586655A=CA2450685002COL4A5c.1073A= (p.Lys358=)
n.529A=
c.749A= (p.Lys250=)
c.1088A= (p.Lys363=)
c.-637A= (n.-637A=)
Xg.108586655A>CCA413930178COL4A5c.1073A>C (p.Lys358Thr)
n.529A>C
c.749A>C (p.Lys250Thr)
c.1088A>C (p.Lys363Thr)
c.-637A>C (n.-637A>C)
Xg.108586655A>GCA413930173COL4A5c.1073A>G (p.Lys358Arg)
n.529A>G
c.749A>G (p.Lys250Arg)
c.1088A>G (p.Lys363Arg)
c.-637A>G (n.-637A>G)
Xg.108586655A>TCA413930167COL4A5c.1073A>T (p.Lys358Ile)
n.529A>T
c.749A>T (p.Lys250Ile)
c.1088A>T (p.Lys363Ile)
c.-637A>T (n.-637A>T)
Xg.108586655_108586656insCCA891843918COL4A5c.1073_1074insC (p.Lys358AsnfsTer?)
n.529_530insC
c.749_750insC (p.Lys250AsnfsTer?)
c.1088_1089insC (p.Lys363AsnfsTer?)
c.-637_-636insC (n.-637_-636insC)
Xg.108586656A>CCA413930203COL4A5c.1074A>C (p.Lys358Asn)
n.530A>C
c.750A>C (p.Lys250Asn)
c.1089A>C (p.Lys363Asn)
c.-636A>C (n.-636A>C)
Xg.108586656A>GCA517992055COL4A5c.1074A>G (p.Lys358=)
n.530A>G
c.750A>G (p.Lys250=)
c.1089A>G (p.Lys363=)
c.-636A>G (n.-636A>G)
Xg.108586656A>TCA413930205COL4A5c.1074A>T (p.Lys358Asn)
n.530A>T
c.750A>T (p.Lys250Asn)
c.1089A>T (p.Lys363Asn)
c.-636A>T (n.-636A>T)
Xg.108586657G>ACA413930207COL4A5c.1075G>A (p.Gly359Arg)
n.531G>A
c.751G>A (p.Gly251Arg)
c.1090G>A (p.Gly364Arg)
c.-635G>A (n.-635G>A)
Xg.108586657G>CCA413930209COL4A5c.1075G>C (p.Gly359Arg)
n.531G>C
c.751G>C (p.Gly251Arg)
c.1090G>C (p.Gly364Arg)
c.-635G>C (n.-635G>C)
 ClinVar
Xg.108586657G=CA2450685003COL4A5c.1075G= (p.Gly359=)
n.531G=
c.751G= (p.Gly251=)
c.1090G= (p.Gly364=)
c.-635G= (n.-635G=)

Number of alleles fetched