Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108595568_108595603delCA2695235616COL4A5c.1483_1516+2del
n.939_972+2del
c.1159_1192+2del
c.1498_1531+2del
c.-183_-150+2del
Xg.108595569_108595586delCA2695235617COL4A5c.1484_1501del (p.Gln495_Gly500del)
n.940_957del
c.1160_1177del (p.Gln387_Gly392del)
c.1499_1516del (p.Gln500_Gly505del)
c.-182_-165del (n.-182_-165del)
Xg.108595567_108595568delCA2580100158COL4A5c.1482_1483del (p.Gln495ThrfsTer?)
n.938_939del
c.1158_1159del (p.Gln387ThrfsTer?)
c.1497_1498del (p.Gln500ThrfsTer?)
c.-184_-183del (n.-184_-183del)
 ClinVar
Xg.108595568C>ACA10488747COL4A5c.1483C>A (p.Gln495Lys)
n.939C>A
c.1159C>A (p.Gln387Lys)
c.1498C>A (p.Gln500Lys)
c.-183C>A (n.-183C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108595568C=CA2450687752COL4A5c.1483C= (p.Gln495=)
n.939C=
c.1159C= (p.Gln387=)
c.1498C= (p.Gln500=)
c.-183C= (n.-183C=)
Xg.108595568C>GCA413935930COL4A5c.1483C>G (p.Gln495Glu)
n.939C>G
c.1159C>G (p.Gln387Glu)
c.1498C>G (p.Gln500Glu)
c.-183C>G (n.-183C>G)
Xg.108595568C>TCA413935924COL4A5c.1483C>T (p.Gln495Ter)
n.939C>T
c.1159C>T (p.Gln387Ter)
c.1498C>T (p.Gln500Ter)
c.-183C>T (n.-183C>T)
 COSMIC
Xg.108595568dupCA658653716COL4A5c.1483dup (p.Gln495ProfsTer?)
n.939dup
c.1159dup (p.Gln387ProfsTer?)
c.1498dup (p.Gln500ProfsTer?)
c.-183dup (n.-183dup)
 ClinVar dbSNP
Xg.108595568_108595605delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAACA2450687751COL4A5c.1483_1516+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA
n.939_972+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA
c.1159_1192+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA
c.1498_1531+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA
c.-183_-150+4delinsCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAA
Xg.108595569A>CCA413935937COL4A5c.1484A>C (p.Gln495Pro)
n.940A>C
c.1160A>C (p.Gln387Pro)
c.1499A>C (p.Gln500Pro)
c.-182A>C (n.-182A>C)
Xg.108595569A>GCA413935942COL4A5c.1484A>G (p.Gln495Arg)
n.940A>G
c.1160A>G (p.Gln387Arg)
c.1499A>G (p.Gln500Arg)
c.-182A>G (n.-182A>G)
Xg.108595569A>TCA413935947COL4A5c.1484A>T (p.Gln495Leu)
n.940A>T
c.1160A>T (p.Gln387Leu)
c.1499A>T (p.Gln500Leu)
c.-182A>T (n.-182A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108595570_108595606delCA334182870COL4A5c.1485_1516+5del
n.941_972+5del
c.1161_1192+5del
c.1500_1531+5del
c.-181_-150+5del
 dbSNP
Xg.108595570A=CA2450687753COL4A5c.1485A= (p.Gln495=)
n.941A=
c.1161A= (p.Gln387=)
c.1500A= (p.Gln500=)
c.-181A= (n.-181A=)
Xg.108595570A>CCA413935950COL4A5c.1485A>C (p.Gln495His)
n.941A>C
c.1161A>C (p.Gln387His)
c.1500A>C (p.Gln500His)
c.-181A>C (n.-181A>C)
Xg.108595570A>GCA517992373COL4A5c.1485A>G (p.Gln495=)
n.941A>G
c.1161A>G (p.Gln387=)
c.1500A>G (p.Gln500=)
c.-181A>G (n.-181A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108595570A>TCA413935951COL4A5c.1485A>T (p.Gln495His)
n.941A>T
c.1161A>T (p.Gln387His)
c.1500A>T (p.Gln500His)
c.-181A>T (n.-181A>T)
Xg.108595571C>ACA413935952COL4A5c.1486C>A (p.Pro496Thr)
n.942C>A
c.1162C>A (p.Pro388Thr)
c.1501C>A (p.Pro501Thr)
c.-180C>A (n.-180C>A)
Xg.108595571C>GCA413935953COL4A5c.1486C>G (p.Pro496Ala)
n.942C>G
c.1162C>G (p.Pro388Ala)
c.1501C>G (p.Pro501Ala)
c.-180C>G (n.-180C>G)
Xg.108595571C>TCA413935955COL4A5c.1486C>T (p.Pro496Ser)
n.942C>T
c.1162C>T (p.Pro388Ser)
c.1501C>T (p.Pro501Ser)
c.-180C>T (n.-180C>T)
Xg.108595572C>ACA413935959COL4A5c.1487C>A (p.Pro496His)
n.943C>A
c.1163C>A (p.Pro388His)
c.1502C>A (p.Pro501His)
c.-179C>A (n.-179C>A)
Xg.108595572C=CA2450687754COL4A5c.1487C= (p.Pro496=)
n.943C=
c.1163C= (p.Pro388=)
c.1502C= (p.Pro501=)
c.-179C= (n.-179C=)
Xg.108595572C>GCA413935961COL4A5c.1487C>G (p.Pro496Arg)
n.943C>G
c.1163C>G (p.Pro388Arg)
c.1502C>G (p.Pro501Arg)
c.-179C>G (n.-179C>G)
 gnomAD v3 gnomAD v4
Xg.108595572C>TCA413935963COL4A5c.1487C>T (p.Pro496Leu)
n.943C>T
c.1163C>T (p.Pro388Leu)
c.1502C>T (p.Pro501Leu)
c.-179C>T (n.-179C>T)
 dbSNP
Xg.108595573T>ACA517992374COL4A5c.1488T>A (p.Pro496=)
n.944T>A
c.1164T>A (p.Pro388=)
c.1503T>A (p.Pro501=)
c.-178T>A (n.-178T>A)
Xg.108595573T>CCA517992375COL4A5c.1488T>C (p.Pro496=)
n.944T>C
c.1164T>C (p.Pro388=)
c.1503T>C (p.Pro501=)
c.-178T>C (n.-178T>C)
 dbSNP
Xg.108595573T>GCA517992376COL4A5c.1488T>G (p.Pro496=)
n.944T>G
c.1164T>G (p.Pro388=)
c.1503T>G (p.Pro501=)
c.-178T>G (n.-178T>G)
Xg.108595573T=CA2450687755COL4A5c.1488T= (p.Pro496=)
n.944T=
c.1164T= (p.Pro388=)
c.1503T= (p.Pro501=)
c.-178T= (n.-178T=)
Xg.108595574G>ACA413935966COL4A5c.1489G>A (p.Gly497Ser)
n.945G>A
c.1165G>A (p.Gly389Ser)
c.1504G>A (p.Gly502Ser)
c.-177G>A (n.-177G>A)
Xg.108595574G>CCA413935972COL4A5c.1489G>C (p.Gly497Arg)
n.945G>C
c.1165G>C (p.Gly389Arg)
c.1504G>C (p.Gly502Arg)
c.-177G>C (n.-177G>C)
Xg.108595574G=CA2450687756COL4A5c.1489G= (p.Gly497=)
n.945G=
c.1165G= (p.Gly389=)
c.1504G= (p.Gly502=)
c.-177G= (n.-177G=)
Xg.108595574G>TCA258486COL4A5c.1489G>T (p.Gly497Cys)
n.945G>T
c.1165G>T (p.Gly389Cys)
c.1504G>T (p.Gly502Cys)
c.-177G>T (n.-177G>T)
 dbSNP
Xg.108595575G>ACA413935983COL4A5c.1490G>A (p.Gly497Asp)
n.946G>A
c.1166G>A (p.Gly389Asp)
c.1505G>A (p.Gly502Asp)
c.-176G>A (n.-176G>A)
 ClinVar dbSNP
Xg.108595575G>CCA413935988COL4A5c.1490G>C (p.Gly497Ala)
n.946G>C
c.1166G>C (p.Gly389Ala)
c.1505G>C (p.Gly502Ala)
c.-176G>C (n.-176G>C)
Xg.108595575G>TCA413935992COL4A5c.1490G>T (p.Gly497Val)
n.946G>T
c.1166G>T (p.Gly389Val)
c.1505G>T (p.Gly502Val)
c.-176G>T (n.-176G>T)
Xg.108595576T>ACA517992377COL4A5c.1491T>A (p.Gly497=)
n.947T>A
c.1167T>A (p.Gly389=)
c.1506T>A (p.Gly502=)
c.-175T>A (n.-175T>A)
Xg.108595576T>CCA517992379COL4A5c.1491T>C (p.Gly497=)
n.947T>C
c.1167T>C (p.Gly389=)
c.1506T>C (p.Gly502=)
c.-175T>C (n.-175T>C)
Xg.108595576T>GCA517992378COL4A5c.1491T>G (p.Gly497=)
n.947T>G
c.1167T>G (p.Gly389=)
c.1506T>G (p.Gly502=)
c.-175T>G (n.-175T>G)
Xg.108595577T>ACA413935993COL4A5c.1492T>A (p.Leu498Met)
n.948T>A
c.1168T>A (p.Leu390Met)
c.1507T>A (p.Leu503Met)
c.-174T>A (n.-174T>A)
Xg.108595577T>CCA517992380COL4A5c.1492T>C (p.Leu498=)
n.948T>C
c.1168T>C (p.Leu390=)
c.1507T>C (p.Leu503=)
c.-174T>C (n.-174T>C)
Xg.108595577T>GCA413935994COL4A5c.1492T>G (p.Leu498Val)
n.948T>G
c.1168T>G (p.Leu390Val)
c.1507T>G (p.Leu503Val)
c.-174T>G (n.-174T>G)
Xg.108595578T>ACA413935995COL4A5c.1493T>A (p.Leu498Ter)
n.949T>A
c.1169T>A (p.Leu390Ter)
c.1508T>A (p.Leu503Ter)
c.-173T>A (n.-173T>A)
Xg.108595578T>CCA413935997COL4A5c.1493T>C (p.Leu498Ser)
n.949T>C
c.1169T>C (p.Leu390Ser)
c.1508T>C (p.Leu503Ser)
c.-173T>C (n.-173T>C)
Xg.108595578T>GCA413936001COL4A5c.1493T>G (p.Leu498Trp)
n.949T>G
c.1169T>G (p.Leu390Trp)
c.1508T>G (p.Leu503Trp)
c.-173T>G (n.-173T>G)
Xg.108595579G>ACA517992381COL4A5c.1494G>A (p.Leu498=)
n.950G>A
c.1170G>A (p.Leu390=)
c.1509G>A (p.Leu503=)
c.-172G>A (n.-172G>A)
Xg.108595579G>CCA413936006COL4A5c.1494G>C (p.Leu498Phe)
n.950G>C
c.1170G>C (p.Leu390Phe)
c.1509G>C (p.Leu503Phe)
c.-172G>C (n.-172G>C)
Xg.108595579G=CA2450687757COL4A5c.1494G= (p.Leu498=)
n.950G=
c.1170G= (p.Leu390=)
c.1509G= (p.Leu503=)
c.-172G= (n.-172G=)
Xg.108595579G>TCA413936011COL4A5c.1494G>T (p.Leu498Phe)
n.950G>T
c.1170G>T (p.Leu390Phe)
c.1509G>T (p.Leu503Phe)
c.-172G>T (n.-172G>T)
 dbSNP gnomAD v4
Xg.108595580C>ACA413936014COL4A5c.1495C>A (p.Pro499Thr)
n.951C>A
c.1171C>A (p.Pro391Thr)
c.1510C>A (p.Pro504Thr)
c.-171C>A (n.-171C>A)
Xg.108595580C>GCA413936015COL4A5c.1495C>G (p.Pro499Ala)
n.951C>G
c.1171C>G (p.Pro391Ala)
c.1510C>G (p.Pro504Ala)
c.-171C>G (n.-171C>G)

Number of alleles fetched