Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108597528_108598968delCA258538COL4A5c.1739_1948+98del
n.1195_1404+98del
c.1415_1624+98del
c.1754_1963+98del
c.74_283+98del
Xg.108598702G>ACA258543COL4A5c.1780G>A (p.Gly594Ser)
n.1236G>A
c.1456G>A (p.Gly486Ser)
c.1795G>A (p.Gly599Ser)
c.115G>A (p.Gly39Ser)
dbSNP
Xg.108598702G>CCA413845598COL4A5c.1780G>C (p.Gly594Arg)
n.1236G>C
c.1456G>C (p.Gly486Arg)
c.1795G>C (p.Gly599Arg)
c.115G>C (p.Gly39Arg)
Xg.108598702G=CA2450688801COL4A5c.1780G= (p.Gly594=)
n.1236G=
c.1456G= (p.Gly486=)
c.1795G= (p.Gly599=)
c.115G= (p.Gly39=)
Xg.108598702G>TCA413845599COL4A5c.1780G>T (p.Gly594Cys)
n.1236G>T
c.1456G>T (p.Gly486Cys)
c.1795G>T (p.Gly599Cys)
c.115G>T (p.Gly39Cys)
Xg.108598703G>ACA413845600COL4A5c.1781G>A (p.Gly594Asp)
n.1237G>A
c.1457G>A (p.Gly486Asp)
c.1796G>A (p.Gly599Asp)
c.116G>A (p.Gly39Asp)
gnomAD v4
Xg.108598703G>CCA413845601COL4A5c.1781G>C (p.Gly594Ala)
n.1237G>C
c.1457G>C (p.Gly486Ala)
c.1796G>C (p.Gly599Ala)
c.116G>C (p.Gly39Ala)
Xg.108598703G=CA2450688802COL4A5c.1781G= (p.Gly594=)
n.1237G=
c.1457G= (p.Gly486=)
c.1796G= (p.Gly599=)
c.116G= (p.Gly39=)
Xg.108598703G>TCA413845602COL4A5c.1781G>T (p.Gly594Val)
n.1237G>T
c.1457G>T (p.Gly486Val)
c.1796G>T (p.Gly599Val)
c.116G>T (p.Gly39Val)
Xg.108598704T>ACA517922285COL4A5c.1782T>A (p.Gly594=)
n.1238T>A
c.1458T>A (p.Gly486=)
c.1797T>A (p.Gly599=)
c.117T>A (p.Gly39=)
Xg.108598704T>CCA517922286COL4A5c.1782T>C (p.Gly594=)
n.1238T>C
c.1458T>C (p.Gly486=)
c.1797T>C (p.Gly599=)
c.117T>C (p.Gly39=)
Xg.108598704T>GCA517922287COL4A5c.1782T>G (p.Gly594=)
n.1238T>G
c.1458T>G (p.Gly486=)
c.1797T>G (p.Gly599=)
c.117T>G (p.Gly39=)
Xg.108598705G>ACA258546COL4A5c.1783G>A (p.Gly595Arg)
n.1239G>A
c.1459G>A (p.Gly487Arg)
c.1798G>A (p.Gly600Arg)
c.118G>A (p.Gly40Arg)
dbSNP
Xg.108598705G>CCA413845603COL4A5c.1783G>C (p.Gly595Arg)
n.1239G>C
c.1459G>C (p.Gly487Arg)
c.1798G>C (p.Gly600Arg)
c.118G>C (p.Gly40Arg)
Xg.108598705G=CA2450688803COL4A5c.1783G= (p.Gly595=)
n.1239G=
c.1459G= (p.Gly487=)
c.1798G= (p.Gly600=)
c.118G= (p.Gly40=)
Xg.108598705G>TCA413845604COL4A5c.1783G>T (p.Gly595Ter)
n.1239G>T
c.1459G>T (p.Gly487Ter)
c.1798G>T (p.Gly600Ter)
c.118G>T (p.Gly40Ter)
Xg.108598706G>ACA413845605COL4A5c.1784G>A (p.Gly595Glu)
n.1240G>A
c.1460G>A (p.Gly487Glu)
c.1799G>A (p.Gly600Glu)
c.119G>A (p.Gly40Glu)
Xg.108598706G>CCA413845606COL4A5c.1784G>C (p.Gly595Ala)
n.1240G>C
c.1460G>C (p.Gly487Ala)
c.1799G>C (p.Gly600Ala)
c.119G>C (p.Gly40Ala)
Xg.108598706G>TCA413845607COL4A5c.1784G>T (p.Gly595Val)
n.1240G>T
c.1460G>T (p.Gly487Val)
c.1799G>T (p.Gly600Val)
c.119G>T (p.Gly40Val)
Xg.108598707A>CCA517922289COL4A5c.1785A>C (p.Gly595=)
n.1241A>C
c.1461A>C (p.Gly487=)
c.1800A>C (p.Gly600=)
c.120A>C (p.Gly40=)
Xg.108598707A>GCA500011COL4A5c.1785A>G (p.Gly595=)
n.1241A>G
c.1461A>G (p.Gly487=)
c.1800A>G (p.Gly600=)
c.120A>G (p.Gly40=)
gnomAD v4
Xg.108598707A>TCA517922288COL4A5c.1785A>T (p.Gly595=)
n.1241A>T
c.1461A>T (p.Gly487=)
c.1800A>T (p.Gly600=)
c.120A>T (p.Gly40=)
Xg.108598708A>CCA413845608COL4A5c.1786A>C (p.Ile596Leu)
n.1242A>C
c.1462A>C (p.Ile488Leu)
c.1801A>C (p.Ile601Leu)
c.121A>C (p.Ile41Leu)
Xg.108598708A>GCA413845610COL4A5c.1786A>G (p.Ile596Val)
n.1242A>G
c.1462A>G (p.Ile488Val)
c.1801A>G (p.Ile601Val)
c.121A>G (p.Ile41Val)
Xg.108598708A>TCA413845609COL4A5c.1786A>T (p.Ile596Phe)
n.1242A>T
c.1462A>T (p.Ile488Phe)
c.1801A>T (p.Ile601Phe)
c.121A>T (p.Ile41Phe)
Xg.108598709T>ACA413845611COL4A5c.1787T>A (p.Ile596Asn)
n.1243T>A
c.1463T>A (p.Ile488Asn)
c.1802T>A (p.Ile601Asn)
c.122T>A (p.Ile41Asn)
Xg.108598709T>CCA413845613COL4A5c.1787T>C (p.Ile596Thr)
n.1243T>C
c.1463T>C (p.Ile488Thr)
c.1802T>C (p.Ile601Thr)
c.122T>C (p.Ile41Thr)
Xg.108598709T>GCA413845612COL4A5c.1787T>G (p.Ile596Ser)
n.1243T>G
c.1463T>G (p.Ile488Ser)
c.1802T>G (p.Ile601Ser)
c.122T>G (p.Ile41Ser)
Xg.108598710T>ACA517922291COL4A5c.1788T>A (p.Ile596=)
n.1244T>A
c.1464T>A (p.Ile488=)
c.1803T>A (p.Ile601=)
c.123T>A (p.Ile41=)
Xg.108598710T>CCA517922290COL4A5c.1788T>C (p.Ile596=)
n.1244T>C
c.1464T>C (p.Ile488=)
c.1803T>C (p.Ile601=)
c.123T>C (p.Ile41=)
Xg.108598710T>GCA413845614COL4A5c.1788T>G (p.Ile596Met)
n.1244T>G
c.1464T>G (p.Ile488Met)
c.1803T>G (p.Ile601Met)
c.123T>G (p.Ile41Met)
Xg.108598711A=CA2450688804COL4A5c.1789A= (p.Thr597=)
n.1245A=
c.1465A= (p.Thr489=)
c.1804A= (p.Thr602=)
c.124A= (p.Thr42=)
Xg.108598711A>CCA413845615COL4A5c.1789A>C (p.Thr597Pro)
n.1245A>C
c.1465A>C (p.Thr489Pro)
c.1804A>C (p.Thr602Pro)
c.124A>C (p.Thr42Pro)
Xg.108598711A>GCA413845616COL4A5c.1789A>G (p.Thr597Ala)
n.1245A>G
c.1465A>G (p.Thr489Ala)
c.1804A>G (p.Thr602Ala)
c.124A>G (p.Thr42Ala)
dbSNP gnomAD v2 gnomAD v4
Xg.108598711A>TCA413845617COL4A5c.1789A>T (p.Thr597Ser)
n.1245A>T
c.1465A>T (p.Thr489Ser)
c.1804A>T (p.Thr602Ser)
c.124A>T (p.Thr42Ser)
gnomAD v4
Xg.108598712C>ACA413845618COL4A5c.1790C>A (p.Thr597Asn)
n.1246C>A
c.1466C>A (p.Thr489Asn)
c.1805C>A (p.Thr602Asn)
c.125C>A (p.Thr42Asn)
COSMIC
Xg.108598712C=CA2450688805COL4A5c.1790C= (p.Thr597=)
n.1246C=
c.1466C= (p.Thr489=)
c.1805C= (p.Thr602=)
c.125C= (p.Thr42=)
Xg.108598712C>GCA413845619COL4A5c.1790C>G (p.Thr597Ser)
n.1246C>G
c.1466C>G (p.Thr489Ser)
c.1805C>G (p.Thr602Ser)
c.125C>G (p.Thr42Ser)
Xg.108598712C>TCA413845620COL4A5c.1790C>T (p.Thr597Ile)
n.1246C>T
c.1466C>T (p.Thr489Ile)
c.1805C>T (p.Thr602Ile)
c.125C>T (p.Thr42Ile)
dbSNP gnomAD v3 gnomAD v4
Xg.108598713T>ACA517922292COL4A5c.1791T>A (p.Thr597=)
n.1247T>A
c.1467T>A (p.Thr489=)
c.1806T>A (p.Thr602=)
c.126T>A (p.Thr42=)
Xg.108598713T>CCA517922294COL4A5c.1791T>C (p.Thr597=)
n.1247T>C
c.1467T>C (p.Thr489=)
c.1806T>C (p.Thr602=)
c.126T>C (p.Thr42=)
Xg.108598713T>GCA517922293COL4A5c.1791T>G (p.Thr597=)
n.1247T>G
c.1467T>G (p.Thr489=)
c.1806T>G (p.Thr602=)
c.126T>G (p.Thr42=)
Xg.108598714T>ACA413845621COL4A5c.1792T>A (p.Phe598Ile)
n.1248T>A
c.1468T>A (p.Phe490Ile)
c.1807T>A (p.Phe603Ile)
c.127T>A (p.Phe43Ile)
Xg.108598714T>CCA413845622COL4A5c.1792T>C (p.Phe598Leu)
n.1248T>C
c.1468T>C (p.Phe490Leu)
c.1807T>C (p.Phe603Leu)
c.127T>C (p.Phe43Leu)
Xg.108598714T>GCA413845623COL4A5c.1792T>G (p.Phe598Val)
n.1248T>G
c.1468T>G (p.Phe490Val)
c.1807T>G (p.Phe603Val)
c.127T>G (p.Phe43Val)
Xg.108598715T>ACA413845624COL4A5c.1793T>A (p.Phe598Tyr)
n.1249T>A
c.1469T>A (p.Phe490Tyr)
c.1808T>A (p.Phe603Tyr)
c.128T>A (p.Phe43Tyr)
Xg.108598715T>CCA413845625COL4A5c.1793T>C (p.Phe598Ser)
n.1249T>C
c.1469T>C (p.Phe490Ser)
c.1808T>C (p.Phe603Ser)
c.128T>C (p.Phe43Ser)
Xg.108598715T>GCA413845626COL4A5c.1793T>G (p.Phe598Cys)
n.1249T>G
c.1469T>G (p.Phe490Cys)
c.1808T>G (p.Phe603Cys)
c.128T>G (p.Phe43Cys)
Xg.108598716T>ACA413845627COL4A5c.1794T>A (p.Phe598Leu)
n.1250T>A
c.1470T>A (p.Phe490Leu)
c.1809T>A (p.Phe603Leu)
c.129T>A (p.Phe43Leu)
dbSNP gnomAD v4
Xg.108598716T>CCA517922295COL4A5c.1794T>C (p.Phe598=)
n.1250T>C
c.1470T>C (p.Phe490=)
c.1809T>C (p.Phe603=)
c.129T>C (p.Phe43=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched