Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108591200_108591216delCA2695235604COL4A5c.1308_1324del (p.Pro437SerfsTer5)
n.764_780del
c.984_1000del (p.Pro329SerfsTer5)
c.1323_1339del (p.Pro442SerfsTer5)
c.-402_-386del (n.-402_-386del)
Xg.108591198C>ACA413933093COL4A5c.1306C>A (p.Pro436Thr)
n.762C>A
c.982C>A (p.Pro328Thr)
c.1321C>A (p.Pro441Thr)
c.-404C>A (n.-404C>A)
Xg.108591198C>GCA413933097COL4A5c.1306C>G (p.Pro436Ala)
n.762C>G
c.982C>G (p.Pro328Ala)
c.1321C>G (p.Pro441Ala)
c.-404C>G (n.-404C>G)
Xg.108591198C>TCA413933102COL4A5c.1306C>T (p.Pro436Ser)
n.762C>T
c.982C>T (p.Pro328Ser)
c.1321C>T (p.Pro441Ser)
c.-404C>T (n.-404C>T)
Xg.108591199C>ACA413933113COL4A5c.1307C>A (p.Pro436His)
n.763C>A
c.983C>A (p.Pro328His)
c.1322C>A (p.Pro441His)
c.-403C>A (n.-403C>A)
Xg.108591199C>GCA413933108COL4A5c.1307C>G (p.Pro436Arg)
n.763C>G
c.983C>G (p.Pro328Arg)
c.1322C>G (p.Pro441Arg)
c.-403C>G (n.-403C>G)
Xg.108591199C>TCA413933106COL4A5c.1307C>T (p.Pro436Leu)
n.763C>T
c.983C>T (p.Pro328Leu)
c.1322C>T (p.Pro441Leu)
c.-403C>T (n.-403C>T)
Xg.108591200T>ACA517992241COL4A5c.1308T>A (p.Pro436=)
n.764T>A
c.984T>A (p.Pro328=)
c.1323T>A (p.Pro441=)
c.-402T>A (n.-402T>A)
 gnomAD v4
Xg.108591200T>CCA517992242COL4A5c.1308T>C (p.Pro436=)
n.764T>C
c.984T>C (p.Pro328=)
c.1323T>C (p.Pro441=)
c.-402T>C (n.-402T>C)
Xg.108591200T>GCA517992243COL4A5c.1308T>G (p.Pro436=)
n.764T>G
c.984T>G (p.Pro328=)
c.1323T>G (p.Pro441=)
c.-402T>G (n.-402T>G)
Xg.108591201C>ACA413933117COL4A5c.1309C>A (p.Pro437Thr)
n.765C>A
c.985C>A (p.Pro329Thr)
c.1324C>A (p.Pro442Thr)
c.-401C>A (n.-401C>A)
Xg.108591201C=CA2450686442COL4A5c.1309C= (p.Pro437=)
n.765C=
c.985C= (p.Pro329=)
c.1324C= (p.Pro442=)
c.-401C= (n.-401C=)
Xg.108591201C>GCA413933118COL4A5c.1309C>G (p.Pro437Ala)
n.765C>G
c.985C>G (p.Pro329Ala)
c.1324C>G (p.Pro442Ala)
c.-401C>G (n.-401C>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108591201C>TCA413933120COL4A5c.1309C>T (p.Pro437Ser)
n.765C>T
c.985C>T (p.Pro329Ser)
c.1324C>T (p.Pro442Ser)
c.-401C>T (n.-401C>T)
Xg.108591202C>ACA413933123COL4A5c.1310C>A (p.Pro437His)
n.766C>A
c.986C>A (p.Pro329His)
c.1325C>A (p.Pro442His)
c.-400C>A (n.-400C>A)
Xg.108591202C>GCA413933126COL4A5c.1310C>G (p.Pro437Arg)
n.766C>G
c.986C>G (p.Pro329Arg)
c.1325C>G (p.Pro442Arg)
c.-400C>G (n.-400C>G)
Xg.108591202C>TCA413933137COL4A5c.1310C>T (p.Pro437Leu)
n.766C>T
c.986C>T (p.Pro329Leu)
c.1325C>T (p.Pro442Leu)
c.-400C>T (n.-400C>T)
 gnomAD v4 COSMIC
Xg.108591203T>ACA517992244COL4A5c.1311T>A (p.Pro437=)
n.767T>A
c.987T>A (p.Pro329=)
c.1326T>A (p.Pro442=)
c.-399T>A (n.-399T>A)
Xg.108591203T>CCA517992246COL4A5c.1311T>C (p.Pro437=)
n.767T>C
c.987T>C (p.Pro329=)
c.1326T>C (p.Pro442=)
c.-399T>C (n.-399T>C)
 gnomAD v4
Xg.108591203T>GCA517992245COL4A5c.1311T>G (p.Pro437=)
n.767T>G
c.987T>G (p.Pro329=)
c.1326T>G (p.Pro442=)
c.-399T>G (n.-399T>G)
Xg.108591204G>ACA413933141COL4A5c.1312G>A (p.Gly438Ser)
n.768G>A
c.988G>A (p.Gly330Ser)
c.1327G>A (p.Gly443Ser)
c.-398G>A (n.-398G>A)
Xg.108591204G>CCA413933155COL4A5c.1312G>C (p.Gly438Arg)
n.768G>C
c.988G>C (p.Gly330Arg)
c.1327G>C (p.Gly443Arg)
c.-398G>C (n.-398G>C)
 ClinVar dbSNP
Xg.108591204G>TCA413933156COL4A5c.1312G>T (p.Gly438Cys)
n.768G>T
c.988G>T (p.Gly330Cys)
c.1327G>T (p.Gly443Cys)
c.-398G>T (n.-398G>T)
Xg.108591205G>ACA413933157COL4A5c.1313G>A (p.Gly438Asp)
n.769G>A
c.989G>A (p.Gly330Asp)
c.1328G>A (p.Gly443Asp)
c.-397G>A (n.-397G>A)
 COSMIC
Xg.108591205G>CCA413933158COL4A5c.1313G>C (p.Gly438Ala)
n.769G>C
c.989G>C (p.Gly330Ala)
c.1328G>C (p.Gly443Ala)
c.-397G>C (n.-397G>C)
Xg.108591205G>TCA413933159COL4A5c.1313G>T (p.Gly438Val)
n.769G>T
c.989G>T (p.Gly330Val)
c.1328G>T (p.Gly443Val)
c.-397G>T (n.-397G>T)
Xg.108591206C>ACA517992247COL4A5c.1314C>A (p.Gly438=)
n.770C>A
c.990C>A (p.Gly330=)
c.1329C>A (p.Gly443=)
c.-396C>A (n.-396C>A)
Xg.108591206C>GCA517992248COL4A5c.1314C>G (p.Gly438=)
n.770C>G
c.990C>G (p.Gly330=)
c.1329C>G (p.Gly443=)
c.-396C>G (n.-396C>G)
Xg.108591206C>TCA517992249COL4A5c.1314C>T (p.Gly438=)
n.770C>T
c.990C>T (p.Gly330=)
c.1329C>T (p.Gly443=)
c.-396C>T (n.-396C>T)
 ClinVar gnomAD v4
Xg.108591207_108591208delCA2695235605COL4A5c.1315_1316del (p.Pro439CysfsTer8)
n.771_772del
c.991_992del (p.Pro331CysfsTer8)
c.1330_1331del (p.Pro444CysfsTer8)
c.-395_-394del (n.-395_-394del)
Xg.108591207C>ACA413933166COL4A5c.1315C>A (p.Pro439Thr)
n.771C>A
c.991C>A (p.Pro331Thr)
c.1330C>A (p.Pro444Thr)
c.-395C>A (n.-395C>A)
Xg.108591207C>GCA413933169COL4A5c.1315C>G (p.Pro439Ala)
n.771C>G
c.991C>G (p.Pro331Ala)
c.1330C>G (p.Pro444Ala)
c.-395C>G (n.-395C>G)
Xg.108591207C>TCA413933162COL4A5c.1315C>T (p.Pro439Ser)
n.771C>T
c.991C>T (p.Pro331Ser)
c.1330C>T (p.Pro444Ser)
c.-395C>T (n.-395C>T)
 gnomAD v4
Xg.108591208C>ACA413933171COL4A5c.1316C>A (p.Pro439His)
n.772C>A
c.992C>A (p.Pro331His)
c.1331C>A (p.Pro444His)
c.-394C>A (n.-394C>A)
Xg.108591208C>GCA413933173COL4A5c.1316C>G (p.Pro439Arg)
n.772C>G
c.992C>G (p.Pro331Arg)
c.1331C>G (p.Pro444Arg)
c.-394C>G (n.-394C>G)
Xg.108591208C>TCA413933174COL4A5c.1316C>T (p.Pro439Leu)
n.772C>T
c.992C>T (p.Pro331Leu)
c.1331C>T (p.Pro444Leu)
c.-394C>T (n.-394C>T)
Xg.108591209T>ACA517992250COL4A5c.1317T>A (p.Pro439=)
n.773T>A
c.993T>A (p.Pro331=)
c.1332T>A (p.Pro444=)
c.-393T>A (n.-393T>A)
Xg.108591209T>CCA334182259COL4A5c.1317T>C (p.Pro439=)
n.773T>C
c.993T>C (p.Pro331=)
c.1332T>C (p.Pro444=)
c.-393T>C (n.-393T>C)
 dbSNP
Xg.108591209T>GCA517992251COL4A5c.1317T>G (p.Pro439=)
n.773T>G
c.993T>G (p.Pro331=)
c.1332T>G (p.Pro444=)
c.-393T>G (n.-393T>G)
Xg.108591209T=CA2450686443COL4A5c.1317T= (p.Pro439=)
n.773T=
c.993T= (p.Pro331=)
c.1332T= (p.Pro444=)
c.-393T= (n.-393T=)
Xg.108591210G>ACA413933176COL4A5c.1318G>A (p.Ala440Thr)
n.774G>A
c.994G>A (p.Ala332Thr)
c.1333G>A (p.Ala445Thr)
c.-392G>A (n.-392G>A)
Xg.108591210G>CCA413933177COL4A5c.1318G>C (p.Ala440Pro)
n.774G>C
c.994G>C (p.Ala332Pro)
c.1333G>C (p.Ala445Pro)
c.-392G>C (n.-392G>C)
 gnomAD v4
Xg.108591210G>TCA413933181COL4A5c.1318G>T (p.Ala440Ser)
n.774G>T
c.994G>T (p.Ala332Ser)
c.1333G>T (p.Ala445Ser)
c.-392G>T (n.-392G>T)
Xg.108591211C>ACA413933183COL4A5c.1319C>A (p.Ala440Asp)
n.775C>A
c.995C>A (p.Ala332Asp)
c.1334C>A (p.Ala445Asp)
c.-391C>A (n.-391C>A)
Xg.108591211C=CA2450686444COL4A5c.1319C= (p.Ala440=)
n.775C=
c.995C= (p.Ala332=)
c.1334C= (p.Ala445=)
c.-391C= (n.-391C=)
Xg.108591211C>GCA413933192COL4A5c.1319C>G (p.Ala440Gly)
n.775C>G
c.995C>G (p.Ala332Gly)
c.1334C>G (p.Ala445Gly)
c.-391C>G (n.-391C>G)
Xg.108591211C>TCA413933194COL4A5c.1319C>T (p.Ala440Val)
n.775C>T
c.995C>T (p.Ala332Val)
c.1334C>T (p.Ala445Val)
c.-391C>T (n.-391C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108591212T>ACA517992252COL4A5c.1320T>A (p.Ala440=)
n.776T>A
c.996T>A (p.Ala332=)
c.1335T>A (p.Ala445=)
c.-390T>A (n.-390T>A)
Xg.108591212T>CCA517992253COL4A5c.1320T>C (p.Ala440=)
n.776T>C
c.996T>C (p.Ala332=)
c.1335T>C (p.Ala445=)
c.-390T>C (n.-390T>C)
 gnomAD v4
Xg.108591212T>GCA517992254COL4A5c.1320T>G (p.Ala440=)
n.776T>G
c.996T>G (p.Ala332=)
c.1335T>G (p.Ala445=)
c.-390T>G (n.-390T>G)

Number of alleles fetched