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.108595563C>ACA413935865COL4A5c.1478C>A (p.Pro493Gln)
n.934C>A
c.1154C>A (p.Pro385Gln)
c.1493C>A (p.Pro498Gln)
c.-188C>A (n.-188C>A)
Xg.108595563C=CA2450687747COL4A5c.1478C= (p.Pro493=)
n.934C=
c.1154C= (p.Pro385=)
c.1493C= (p.Pro498=)
c.-188C= (n.-188C=)
Xg.108595563C>GCA413935868COL4A5c.1478C>G (p.Pro493Arg)
n.934C>G
c.1154C>G (p.Pro385Arg)
c.1493C>G (p.Pro498Arg)
c.-188C>G (n.-188C>G)
Xg.108595563C>TCA413935895COL4A5c.1478C>T (p.Pro493Leu)
n.934C>T
c.1154C>T (p.Pro385Leu)
c.1493C>T (p.Pro498Leu)
c.-188C>T (n.-188C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108595564A>CCA517992367COL4A5c.1479A>C (p.Pro493=)
n.935A>C
c.1155A>C (p.Pro385=)
c.1494A>C (p.Pro498=)
c.-187A>C (n.-187A>C)
Xg.108595564A>GCA517992368COL4A5c.1479A>G (p.Pro493=)
n.935A>G
c.1155A>G (p.Pro385=)
c.1494A>G (p.Pro498=)
c.-187A>G (n.-187A>G)
 ClinVar
Xg.108595564A>TCA517992369COL4A5c.1479A>T (p.Pro493=)
n.935A>T
c.1155A>T (p.Pro385=)
c.1494A>T (p.Pro498=)
c.-187A>T (n.-187A>T)
Xg.108595565G>ACA413935899COL4A5c.1480G>A (p.Gly494Ser)
n.936G>A
c.1156G>A (p.Gly386Ser)
c.1495G>A (p.Gly499Ser)
c.-186G>A (n.-186G>A)
 gnomAD v4
Xg.108595565G>CCA413935901COL4A5c.1480G>C (p.Gly494Arg)
n.936G>C
c.1156G>C (p.Gly386Arg)
c.1495G>C (p.Gly499Arg)
c.-186G>C (n.-186G>C)
 ClinVar dbSNP
Xg.108595565G=CA2450687748COL4A5c.1480G= (p.Gly494=)
n.936G=
c.1156G= (p.Gly386=)
c.1495G= (p.Gly499=)
c.-186G= (n.-186G=)
Xg.108595565G>TCA413935902COL4A5c.1480G>T (p.Gly494Cys)
n.936G>T
c.1156G>T (p.Gly386Cys)
c.1495G>T (p.Gly499Cys)
c.-186G>T (n.-186G>T)
 ClinVar dbSNP
Xg.108595566delCA2580100157COL4A5c.1481del (p.Gly494ValfsTer?)
n.937del
c.1157del (p.Gly386ValfsTer?)
c.1496del (p.Gly499ValfsTer?)
c.-185del (n.-185del)
 ClinVar
Xg.108595566G>ACA258484COL4A5c.1481G>A (p.Gly494Asp)
n.937G>A
c.1157G>A (p.Gly386Asp)
c.1496G>A (p.Gly499Asp)
c.-185G>A (n.-185G>A)
 ClinVar dbSNP
Xg.108595566G>CCA413935906COL4A5c.1481G>C (p.Gly494Ala)
n.937G>C
c.1157G>C (p.Gly386Ala)
c.1496G>C (p.Gly499Ala)
c.-185G>C (n.-185G>C)
Xg.108595566G=CA2450687749COL4A5c.1481G= (p.Gly494=)
n.937G=
c.1157G= (p.Gly386=)
c.1496G= (p.Gly499=)
c.-185G= (n.-185G=)
Xg.108595566G>TCA413935909COL4A5c.1481G>T (p.Gly494Val)
n.937G>T
c.1157G>T (p.Gly386Val)
c.1496G>T (p.Gly499Val)
c.-185G>T (n.-185G>T)
Xg.108595567T>ACA517992370COL4A5c.1482T>A (p.Gly494=)
n.938T>A
c.1158T>A (p.Gly386=)
c.1497T>A (p.Gly499=)
c.-184T>A (n.-184T>A)
Xg.108595567T>CCA517992371COL4A5c.1482T>C (p.Gly494=)
n.938T>C
c.1158T>C (p.Gly386=)
c.1497T>C (p.Gly499=)
c.-184T>C (n.-184T>C)
Xg.108595567T>GCA517992372COL4A5c.1482T>G (p.Gly494=)
n.938T>G
c.1158T>G (p.Gly386=)
c.1497T>G (p.Gly499=)
c.-184T>G (n.-184T>G)
Xg.108595567T=CA2450687750COL4A5c.1482T= (p.Gly494=)
n.938T=
c.1158T= (p.Gly386=)
c.1497T= (p.Gly499=)
c.-184T= (n.-184T=)
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)

Number of alleles fetched