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.108598719G>ACA517922296COL4A5c.1797G>A (p.Lys599=)
n.1253G>A
c.1473G>A (p.Lys491=)
c.1812G>A (p.Lys604=)
c.132G>A (p.Lys44=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598719G>CCA413845635COL4A5c.1797G>C (p.Lys599Asn)
n.1253G>C
c.1473G>C (p.Lys491Asn)
c.1812G>C (p.Lys604Asn)
c.132G>C (p.Lys44Asn)
Xg.108598719G=CA2450688807COL4A5c.1797G= (p.Lys599=)
n.1253G=
c.1473G= (p.Lys491=)
c.1812G= (p.Lys604=)
c.132G= (p.Lys44=)
Xg.108598719G>TCA413845636COL4A5c.1797G>T (p.Lys599Asn)
n.1253G>T
c.1473G>T (p.Lys491Asn)
c.1812G>T (p.Lys604Asn)
c.132G>T (p.Lys44Asn)
 dbSNP
Xg.108598721delCA2695235626COL4A5c.1799del (p.Gly600ValfsTer18)
n.1255del
c.1475del (p.Gly492ValfsTer18)
c.1814del (p.Gly605ValfsTer18)
c.134del (p.Gly45ValfsTer18)
Xg.108598720G>ACA413845637COL4A5c.1798G>A (p.Gly600Ser)
n.1254G>A
c.1474G>A (p.Gly492Ser)
c.1813G>A (p.Gly605Ser)
c.133G>A (p.Gly45Ser)
 dbSNP
Xg.108598720G>CCA413845638COL4A5c.1798G>C (p.Gly600Arg)
n.1254G>C
c.1474G>C (p.Gly492Arg)
c.1813G>C (p.Gly605Arg)
c.133G>C (p.Gly45Arg)
Xg.108598720G=CA2450688808COL4A5c.1798G= (p.Gly600=)
n.1254G=
c.1474G= (p.Gly492=)
c.1813G= (p.Gly605=)
c.133G= (p.Gly45=)
Xg.108598720G>TCA413845639COL4A5c.1798G>T (p.Gly600Cys)
n.1254G>T
c.1474G>T (p.Gly492Cys)
c.1813G>T (p.Gly605Cys)
c.133G>T (p.Gly45Cys)
Xg.108598721G>ACA413845642COL4A5c.1799G>A (p.Gly600Asp)
n.1255G>A
c.1475G>A (p.Gly492Asp)
c.1814G>A (p.Gly605Asp)
c.134G>A (p.Gly45Asp)
Xg.108598721G>CCA413845641COL4A5c.1799G>C (p.Gly600Ala)
n.1255G>C
c.1475G>C (p.Gly492Ala)
c.1814G>C (p.Gly605Ala)
c.134G>C (p.Gly45Ala)
Xg.108598721G=CA2450688809COL4A5c.1799G= (p.Gly600=)
n.1255G=
c.1475G= (p.Gly492=)
c.1814G= (p.Gly605=)
c.134G= (p.Gly45=)
Xg.108598721G>TCA413845640COL4A5c.1799G>T (p.Gly600Val)
n.1255G>T
c.1475G>T (p.Gly492Val)
c.1814G>T (p.Gly605Val)
c.134G>T (p.Gly45Val)
 ClinVar dbSNP
Xg.108598722T>ACA517922297COL4A5c.1800T>A (p.Gly600=)
n.1256T>A
c.1476T>A (p.Gly492=)
c.1815T>A (p.Gly605=)
c.135T>A (p.Gly45=)
Xg.108598722T>CCA517922298COL4A5c.1800T>C (p.Gly600=)
n.1256T>C
c.1476T>C (p.Gly492=)
c.1815T>C (p.Gly605=)
c.135T>C (p.Gly45=)
 gnomAD v4
Xg.108598722T>GCA517922299COL4A5c.1800T>G (p.Gly600=)
n.1256T>G
c.1476T>G (p.Gly492=)
c.1815T>G (p.Gly605=)
c.135T>G (p.Gly45=)
Xg.108598723G>ACA413845643COL4A5c.1801G>A (p.Glu601Lys)
n.1257G>A
c.1477G>A (p.Glu493Lys)
c.1816G>A (p.Glu606Lys)
c.136G>A (p.Glu46Lys)
 gnomAD v4
Xg.108598723G>CCA413845644COL4A5c.1801G>C (p.Glu601Gln)
n.1257G>C
c.1477G>C (p.Glu493Gln)
c.1816G>C (p.Glu606Gln)
c.136G>C (p.Glu46Gln)
Xg.108598723G>TCA413845645COL4A5c.1801G>T (p.Glu601Ter)
n.1257G>T
c.1477G>T (p.Glu493Ter)
c.1816G>T (p.Glu606Ter)
c.136G>T (p.Glu46Ter)
Xg.108598724A>CCA413845646COL4A5c.1802A>C (p.Glu601Ala)
n.1258A>C
c.1478A>C (p.Glu493Ala)
c.1817A>C (p.Glu606Ala)
c.137A>C (p.Glu46Ala)
Xg.108598724A>GCA413845647COL4A5c.1802A>G (p.Glu601Gly)
n.1258A>G
c.1478A>G (p.Glu493Gly)
c.1817A>G (p.Glu606Gly)
c.137A>G (p.Glu46Gly)
Xg.108598724A>TCA413845648COL4A5c.1802A>T (p.Glu601Val)
n.1258A>T
c.1478A>T (p.Glu493Val)
c.1817A>T (p.Glu606Val)
c.137A>T (p.Glu46Val)
Xg.108598725A>CCA413845649COL4A5c.1803A>C (p.Glu601Asp)
n.1259A>C
c.1479A>C (p.Glu493Asp)
c.1818A>C (p.Glu606Asp)
c.138A>C (p.Glu46Asp)
Xg.108598725A>GCA517922300COL4A5c.1803A>G (p.Glu601=)
n.1259A>G
c.1479A>G (p.Glu493=)
c.1818A>G (p.Glu606=)
c.138A>G (p.Glu46=)
Xg.108598725A>TCA413845650COL4A5c.1803A>T (p.Glu601Asp)
n.1259A>T
c.1479A>T (p.Glu493Asp)
c.1818A>T (p.Glu606Asp)
c.138A>T (p.Glu46Asp)
Xg.108598726A>CCA517922301COL4A5c.1804A>C (p.Arg602=)
n.1260A>C
c.1480A>C (p.Arg494=)
c.1819A>C (p.Arg607=)
c.139A>C (p.Arg47=)
Xg.108598726A>GCA413845651COL4A5c.1804A>G (p.Arg602Gly)
n.1260A>G
c.1480A>G (p.Arg494Gly)
c.1819A>G (p.Arg607Gly)
c.139A>G (p.Arg47Gly)
Xg.108598726A>TCA413845652COL4A5c.1804A>T (p.Arg602Ter)
n.1260A>T
c.1480A>T (p.Arg494Ter)
c.1819A>T (p.Arg607Ter)
c.139A>T (p.Arg47Ter)
Xg.108598727G>ACA413845653COL4A5c.1805G>A (p.Arg602Lys)
n.1261G>A
c.1481G>A (p.Arg494Lys)
c.1820G>A (p.Arg607Lys)
c.140G>A (p.Arg47Lys)
 COSMIC COSMIC
Xg.108598727G>CCA413845654COL4A5c.1805G>C (p.Arg602Thr)
n.1261G>C
c.1481G>C (p.Arg494Thr)
c.1820G>C (p.Arg607Thr)
c.140G>C (p.Arg47Thr)
Xg.108598727G>TCA413845655COL4A5c.1805G>T (p.Arg602Ile)
n.1261G>T
c.1481G>T (p.Arg494Ile)
c.1820G>T (p.Arg607Ile)
c.140G>T (p.Arg47Ile)
 COSMIC
Xg.108598728A>CCA413845657COL4A5c.1806A>C (p.Arg602Ser)
n.1262A>C
c.1482A>C (p.Arg494Ser)
c.1821A>C (p.Arg607Ser)
c.141A>C (p.Arg47Ser)
Xg.108598728A>GCA517922302COL4A5c.1806A>G (p.Arg602=)
n.1262A>G
c.1482A>G (p.Arg494=)
c.1821A>G (p.Arg607=)
c.141A>G (p.Arg47=)
Xg.108598728A>TCA413845656COL4A5c.1806A>T (p.Arg602Ser)
n.1262A>T
c.1482A>T (p.Arg494Ser)
c.1821A>T (p.Arg607Ser)
c.141A>T (p.Arg47Ser)
 COSMIC COSMIC
Xg.108598729G>ACA413845658COL4A5c.1807G>A (p.Gly603Ser)
n.1263G>A
c.1483G>A (p.Gly495Ser)
c.1822G>A (p.Gly608Ser)
c.142G>A (p.Gly48Ser)
 ClinVar dbSNP
Xg.108598729G>CCA413845659COL4A5c.1807G>C (p.Gly603Arg)
n.1263G>C
c.1483G>C (p.Gly495Arg)
c.1822G>C (p.Gly608Arg)
c.142G>C (p.Gly48Arg)
 gnomAD v4
Xg.108598729G=CA2450688810COL4A5c.1807G= (p.Gly603=)
n.1263G=
c.1483G= (p.Gly495=)
c.1822G= (p.Gly608=)
c.142G= (p.Gly48=)
Xg.108598729G>TCA413845660COL4A5c.1807G>T (p.Gly603Cys)
n.1263G>T
c.1483G>T (p.Gly495Cys)
c.1822G>T (p.Gly608Cys)
c.142G>T (p.Gly48Cys)
 ClinVar
Xg.108598740_108598793delCA2580100305COL4A5c.1818_1871del (p.Asn607_Gly624del)
n.1274_1327del
c.1494_1547del (p.Asn499_Gly516del)
c.1833_1886del (p.Asn612_Gly629del)
c.153_206del (p.Asn52_Gly69del)
 ClinVar
Xg.108598730G>ACA413845661COL4A5c.1808G>A (p.Gly603Asp)
n.1264G>A
c.1484G>A (p.Gly495Asp)
c.1823G>A (p.Gly608Asp)
c.143G>A (p.Gly48Asp)
 ClinVar dbSNP
Xg.108598730G>CCA413845662COL4A5c.1808G>C (p.Gly603Ala)
n.1264G>C
c.1484G>C (p.Gly495Ala)
c.1823G>C (p.Gly608Ala)
c.143G>C (p.Gly48Ala)
Xg.108598730G=CA2450688811COL4A5c.1808G= (p.Gly603=)
n.1264G=
c.1484G= (p.Gly495=)
c.1823G= (p.Gly608=)
c.143G= (p.Gly48=)
Xg.108598730G>TCA258549COL4A5c.1808G>T (p.Gly603Val)
n.1264G>T
c.1484G>T (p.Gly495Val)
c.1823G>T (p.Gly608Val)
c.143G>T (p.Gly48Val)
 ClinVar dbSNP
Xg.108598731T>ACA517922303COL4A5c.1809T>A (p.Gly603=)
n.1265T>A
c.1485T>A (p.Gly495=)
c.1824T>A (p.Gly608=)
c.144T>A (p.Gly48=)
Xg.108598731T>CCA517922304COL4A5c.1809T>C (p.Gly603=)
n.1265T>C
c.1485T>C (p.Gly495=)
c.1824T>C (p.Gly608=)
c.144T>C (p.Gly48=)
Xg.108598731T>GCA517922305COL4A5c.1809T>G (p.Gly603=)
n.1265T>G
c.1485T>G (p.Gly495=)
c.1824T>G (p.Gly608=)
c.144T>G (p.Gly48=)
Xg.108598731_108598733delinsTCCCA2450688812COL4A5c.1809_1811delinsTCC (p.Gly603=)
n.1265_1267delinsTCC
c.1485_1487delinsTCC (p.Gly495=)
c.1824_1826delinsTCC (p.Gly608=)
c.144_146delinsTCC (p.Gly48=)
Xg.108598732C>ACA10488798COL4A5c.1810C>A (p.Pro604Thr)
n.1266C>A
c.1486C>A (p.Pro496Thr)
c.1825C>A (p.Pro609Thr)
c.145C>A (p.Pro49Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598732C=CA2450688813COL4A5c.1810C= (p.Pro604=)
n.1266C=
c.1486C= (p.Pro496=)
c.1825C= (p.Pro609=)
c.145C= (p.Pro49=)
Xg.108598732C>GCA413845663COL4A5c.1810C>G (p.Pro604Ala)
n.1266C>G
c.1486C>G (p.Pro496Ala)
c.1825C>G (p.Pro609Ala)
c.145C>G (p.Pro49Ala)
Xg.108598732C>TCA413845664COL4A5c.1810C>T (p.Pro604Ser)
n.1266C>T
c.1486C>T (p.Pro496Ser)
c.1825C>T (p.Pro609Ser)
c.145C>T (p.Pro49Ser)
 gnomAD v4
Xg.108598732_108598733delinsTCA920430419COL4A5c.1810_1811delinsT (p.Pro604SerfsTer14)
n.1266_1267delinsT
c.1486_1487delinsT (p.Pro496SerfsTer14)
c.1825_1826delinsT (p.Pro609SerfsTer14)
c.145_146delinsT (p.Pro49SerfsTer14)
 dbSNP
Xg.108598736dupCA2499729925COL4A5c.1814dup (p.Gly606TrpfsTer28)
n.1270dup
c.1490dup (p.Gly498TrpfsTer28)
c.1829dup (p.Gly611TrpfsTer28)
c.149dup (p.Gly51TrpfsTer28)
Xg.108598735_108598736dupCA2695235629COL4A5c.1813_1814dup (p.Gly606LeufsTer13)
n.1269_1270dup
c.1489_1490dup (p.Gly498LeufsTer13)
c.1828_1829dup (p.Gly611LeufsTer13)
c.148_149dup (p.Gly51LeufsTer13)
Xg.108598736delCA2695235627COL4A5c.1814del (p.Pro605LeufsTer13)
n.1270del
c.1490del (p.Pro497LeufsTer13)
c.1829del (p.Pro610LeufsTer13)
c.149del (p.Pro50LeufsTer13)
Xg.108598735_108598736delCA2695235628COL4A5c.1813_1814del (p.Pro605TrpfsTer28)
n.1269_1270del
c.1489_1490del (p.Pro497TrpfsTer28)
c.1828_1829del (p.Pro610TrpfsTer28)
c.148_149del (p.Pro50TrpfsTer28)
Xg.108598735_108598745delCA2822895325COL4A5c.1813_1823del (p.Pro605ArgfsTer25)
n.1269_1279del
c.1489_1499del (p.Pro497ArgfsTer25)
c.1828_1838del (p.Pro610ArgfsTer25)
c.148_158del (p.Pro50ArgfsTer25)
Xg.108598733C>ACA413845665COL4A5c.1811C>A (p.Pro604His)
n.1267C>A
c.1487C>A (p.Pro496His)
c.1826C>A (p.Pro609His)
c.146C>A (p.Pro49His)
Xg.108598733C>GCA413845666COL4A5c.1811C>G (p.Pro604Arg)
n.1267C>G
c.1487C>G (p.Pro496Arg)
c.1826C>G (p.Pro609Arg)
c.146C>G (p.Pro49Arg)
Xg.108598733C>TCA413845667COL4A5c.1811C>T (p.Pro604Leu)
n.1267C>T
c.1487C>T (p.Pro496Leu)
c.1826C>T (p.Pro609Leu)
c.146C>T (p.Pro49Leu)
 ClinVar gnomAD v4 COSMIC COSMIC
Xg.108598734C>ACA517922308COL4A5c.1812C>A (p.Pro604=)
n.1268C>A
c.1488C>A (p.Pro496=)
c.1827C>A (p.Pro609=)
c.147C>A (p.Pro49=)
Xg.108598734C>GCA517922306COL4A5c.1812C>G (p.Pro604=)
n.1268C>G
c.1488C>G (p.Pro496=)
c.1827C>G (p.Pro609=)
c.147C>G (p.Pro49=)
Xg.108598734C>TCA517922307COL4A5c.1812C>T (p.Pro604=)
n.1268C>T
c.1488C>T (p.Pro496=)
c.1827C>T (p.Pro609=)
c.147C>T (p.Pro49=)
Xg.108598735C>ACA10488799COL4A5c.1813C>A (p.Pro605Thr)
n.1269C>A
c.1489C>A (p.Pro497Thr)
c.1828C>A (p.Pro610Thr)
c.148C>A (p.Pro50Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108598735C=CA2450688814COL4A5c.1813C= (p.Pro605=)
n.1269C=
c.1489C= (p.Pro497=)
c.1828C= (p.Pro610=)
c.148C= (p.Pro50=)
Xg.108598735C>GCA413845669COL4A5c.1813C>G (p.Pro605Ala)
n.1269C>G
c.1489C>G (p.Pro497Ala)
c.1828C>G (p.Pro610Ala)
c.148C>G (p.Pro50Ala)
Xg.108598735C>TCA413845668COL4A5c.1813C>T (p.Pro605Ser)
n.1269C>T
c.1489C>T (p.Pro497Ser)
c.1828C>T (p.Pro610Ser)
c.148C>T (p.Pro50Ser)
Xg.108598736C>ACA413845670COL4A5c.1814C>A (p.Pro605His)
n.1270C>A
c.1490C>A (p.Pro497His)
c.1829C>A (p.Pro610His)
c.149C>A (p.Pro50His)
Xg.108598736C>GCA413845672COL4A5c.1814C>G (p.Pro605Arg)
n.1270C>G
c.1490C>G (p.Pro497Arg)
c.1829C>G (p.Pro610Arg)
c.149C>G (p.Pro50Arg)
Xg.108598736C>TCA413845671COL4A5c.1814C>T (p.Pro605Leu)
n.1270C>T
c.1490C>T (p.Pro497Leu)
c.1829C>T (p.Pro610Leu)
c.149C>T (p.Pro50Leu)
Xg.108598736_108598737delinsCTCA2450688815COL4A5c.1814_1815delinsCT (p.Pro605=)
n.1270_1271delinsCT
c.1490_1491delinsCT (p.Pro497=)
c.1829_1830delinsCT (p.Pro610=)
c.149_150delinsCT (p.Pro50=)
Xg.108598737delCA916083990COL4A5c.1815del (p.Asn607ThrfsTer11)
n.1271del
c.1491del (p.Asn499ThrfsTer11)
c.1830del (p.Asn612ThrfsTer11)
c.150del (p.Asn52ThrfsTer11)
 ClinVar dbSNP
Xg.108598737T>ACA517922350COL4A5c.1815T>A (p.Pro605=)
n.1271T>A
c.1491T>A (p.Pro497=)
c.1830T>A (p.Pro610=)
c.150T>A (p.Pro50=)
Xg.108598737T>CCA517922351COL4A5c.1815T>C (p.Pro605=)
n.1271T>C
c.1491T>C (p.Pro497=)
c.1830T>C (p.Pro610=)
c.150T>C (p.Pro50=)
 ClinVar
Xg.108598737T>GCA517922352COL4A5c.1815T>G (p.Pro605=)
n.1271T>G
c.1491T>G (p.Pro497=)
c.1830T>G (p.Pro610=)
c.150T>G (p.Pro50=)
Xg.108598738G>ACA413845673COL4A5c.1816G>A (p.Gly606Arg)
n.1272G>A
c.1492G>A (p.Gly498Arg)
c.1831G>A (p.Gly611Arg)
c.151G>A (p.Gly51Arg)
Xg.108598738G>CCA413845675COL4A5c.1816G>C (p.Gly606Arg)
n.1272G>C
c.1492G>C (p.Gly498Arg)
c.1831G>C (p.Gly611Arg)
c.151G>C (p.Gly51Arg)
Xg.108598738G>TCA413845674COL4A5c.1816G>T (p.Gly606Trp)
n.1272G>T
c.1492G>T (p.Gly498Trp)
c.1831G>T (p.Gly611Trp)
c.151G>T (p.Gly51Trp)
 COSMIC
Xg.108598739G>ACA413845676COL4A5c.1817G>A (p.Gly606Glu)
n.1273G>A
c.1493G>A (p.Gly498Glu)
c.1832G>A (p.Gly611Glu)
c.152G>A (p.Gly51Glu)
 ClinVar dbSNP
Xg.108598739G>CCA413845678COL4A5c.1817G>C (p.Gly606Ala)
n.1273G>C
c.1493G>C (p.Gly498Ala)
c.1832G>C (p.Gly611Ala)
c.152G>C (p.Gly51Ala)
Xg.108598739G>TCA413845677COL4A5c.1817G>T (p.Gly606Val)
n.1273G>T
c.1493G>T (p.Gly498Val)
c.1832G>T (p.Gly611Val)
c.152G>T (p.Gly51Val)
 ClinVar
Xg.108598740G>ACA517922357COL4A5c.1818G>A (p.Gly606=)
n.1274G>A
c.1494G>A (p.Gly498=)
c.1833G>A (p.Gly611=)
c.153G>A (p.Gly51=)
 ClinVar dbSNP COSMIC COSMIC
Xg.108598740G>CCA517922355COL4A5c.1818G>C (p.Gly606=)
n.1274G>C
c.1494G>C (p.Gly498=)
c.1833G>C (p.Gly611=)
c.153G>C (p.Gly51=)
Xg.108598740G=CA2450688816COL4A5c.1818G= (p.Gly606=)
n.1274G=
c.1494G= (p.Gly498=)
c.1833G= (p.Gly611=)
c.153G= (p.Gly51=)
Xg.108598740G>TCA517922356COL4A5c.1818G>T (p.Gly606=)
n.1274G>T
c.1494G>T (p.Gly498=)
c.1833G>T (p.Gly611=)
c.153G>T (p.Gly51=)
 ClinVar gnomAD v4
Xg.108598741A>CCA413845679COL4A5c.1819A>C (p.Asn607His)
n.1275A>C
c.1495A>C (p.Asn499His)
c.1834A>C (p.Asn612His)
c.154A>C (p.Asn52His)
Xg.108598741A>GCA413845680COL4A5c.1819A>G (p.Asn607Asp)
n.1275A>G
c.1495A>G (p.Asn499Asp)
c.1834A>G (p.Asn612Asp)
c.154A>G (p.Asn52Asp)
 gnomAD v3 gnomAD v4
Xg.108598741A>TCA413845681COL4A5c.1819A>T (p.Asn607Tyr)
n.1275A>T
c.1495A>T (p.Asn499Tyr)
c.1834A>T (p.Asn612Tyr)
c.154A>T (p.Asn52Tyr)
Xg.108598742A>CCA413845682COL4A5c.1820A>C (p.Asn607Thr)
n.1276A>C
c.1496A>C (p.Asn499Thr)
c.1835A>C (p.Asn612Thr)
c.155A>C (p.Asn52Thr)
Xg.108598742A>GCA413845683COL4A5c.1820A>G (p.Asn607Ser)
n.1276A>G
c.1496A>G (p.Asn499Ser)
c.1835A>G (p.Asn612Ser)
c.155A>G (p.Asn52Ser)
 gnomAD v4
Xg.108598742A>TCA413845684COL4A5c.1820A>T (p.Asn607Ile)
n.1276A>T
c.1496A>T (p.Asn499Ile)
c.1835A>T (p.Asn612Ile)
c.155A>T (p.Asn52Ile)
Xg.108598743C>ACA413845685COL4A5c.1821C>A (p.Asn607Lys)
n.1277C>A
c.1497C>A (p.Asn499Lys)
c.1836C>A (p.Asn612Lys)
c.156C>A (p.Asn52Lys)
Xg.108598743C>GCA413845686COL4A5c.1821C>G (p.Asn607Lys)
n.1277C>G
c.1497C>G (p.Asn499Lys)
c.1836C>G (p.Asn612Lys)
c.156C>G (p.Asn52Lys)
Xg.108598743C>TCA517922361COL4A5c.1821C>T (p.Asn607=)
n.1277C>T
c.1497C>T (p.Asn499=)
c.1836C>T (p.Asn612=)
c.156C>T (p.Asn52=)
Xg.108598743_108598751delCA2522882905COL4A5c.1821_1829del (p.Asn607_Leu610delinsLys)
n.1277_1285del
c.1497_1505del (p.Asn499_Leu502delinsLys)
c.1836_1844del (p.Asn612_Leu615delinsLys)
c.156_164del (p.Asn52_Leu55delinsLys)
Xg.108598744C>ACA413845687COL4A5c.1822C>A (p.Pro608Thr)
n.1278C>A
c.1498C>A (p.Pro500Thr)
c.1837C>A (p.Pro613Thr)
c.157C>A (p.Pro53Thr)
Xg.108598744C>GCA413845688COL4A5c.1822C>G (p.Pro608Ala)
n.1278C>G
c.1498C>G (p.Pro500Ala)
c.1837C>G (p.Pro613Ala)
c.157C>G (p.Pro53Ala)
Xg.108598744C>TCA413845689COL4A5c.1822C>T (p.Pro608Ser)
n.1278C>T
c.1498C>T (p.Pro500Ser)
c.1837C>T (p.Pro613Ser)
c.157C>T (p.Pro53Ser)
Xg.108598745C>ACA10488800COL4A5c.1823C>A (p.Pro608Gln)
n.1279C>A
c.1499C>A (p.Pro500Gln)
c.1838C>A (p.Pro613Gln)
c.158C>A (p.Pro53Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108598745C=CA2450688817COL4A5c.1823C= (p.Pro608=)
n.1279C=
c.1499C= (p.Pro500=)
c.1838C= (p.Pro613=)
c.158C= (p.Pro53=)
Xg.108598745C>GCA413845690COL4A5c.1823C>G (p.Pro608Arg)
n.1279C>G
c.1499C>G (p.Pro500Arg)
c.1838C>G (p.Pro613Arg)
c.158C>G (p.Pro53Arg)
Xg.108598745C>TCA413845691COL4A5c.1823C>T (p.Pro608Leu)
n.1279C>T
c.1499C>T (p.Pro500Leu)
c.1838C>T (p.Pro613Leu)
c.158C>T (p.Pro53Leu)
Xg.108598746A>CCA517922364COL4A5c.1824A>C (p.Pro608=)
n.1280A>C
c.1500A>C (p.Pro500=)
c.1839A>C (p.Pro613=)
c.159A>C (p.Pro53=)
 ClinVar gnomAD v4
Xg.108598746A>GCA517922365COL4A5c.1824A>G (p.Pro608=)
n.1280A>G
c.1500A>G (p.Pro500=)
c.1839A>G (p.Pro613=)
c.159A>G (p.Pro53=)
Xg.108598746A>TCA517922366COL4A5c.1824A>T (p.Pro608=)
n.1280A>T
c.1500A>T (p.Pro500=)
c.1839A>T (p.Pro613=)
c.159A>T (p.Pro53=)
Xg.108598747G>ACA413845692COL4A5c.1825G>A (p.Gly609Ser)
n.1281G>A
c.1501G>A (p.Gly501Ser)
c.1840G>A (p.Gly614Ser)
c.160G>A (p.Gly54Ser)
 COSMIC COSMIC
Xg.108598747G>CCA258551COL4A5c.1825G>C (p.Gly609Arg)
n.1281G>C
c.1501G>C (p.Gly501Arg)
c.1840G>C (p.Gly614Arg)
c.160G>C (p.Gly54Arg)
 dbSNP
Xg.108598747G=CA2450688818COL4A5c.1825G= (p.Gly609=)
n.1281G=
c.1501G= (p.Gly501=)
c.1840G= (p.Gly614=)
c.160G= (p.Gly54=)
Xg.108598747G>TCA413845693COL4A5c.1825G>T (p.Gly609Cys)
n.1281G>T
c.1501G>T (p.Gly501Cys)
c.1840G>T (p.Gly614Cys)
c.160G>T (p.Gly54Cys)
 ClinVar
Xg.108598748G>ACA413845694COL4A5c.1826G>A (p.Gly609Asp)
n.1282G>A
c.1502G>A (p.Gly501Asp)
c.1841G>A (p.Gly614Asp)
c.161G>A (p.Gly54Asp)
Xg.108598748G>CCA413845695COL4A5c.1826G>C (p.Gly609Ala)
n.1282G>C
c.1502G>C (p.Gly501Ala)
c.1841G>C (p.Gly614Ala)
c.161G>C (p.Gly54Ala)
 ClinVar dbSNP
Xg.108598748G=CA2450688819COL4A5c.1826G= (p.Gly609=)
n.1282G=
c.1502G= (p.Gly501=)
c.1841G= (p.Gly614=)
c.161G= (p.Gly54=)
Xg.108598748G>TCA258553COL4A5c.1826G>T (p.Gly609Val)
n.1282G>T
c.1502G>T (p.Gly501Val)
c.1841G>T (p.Gly614Val)
c.161G>T (p.Gly54Val)
 dbSNP
Xg.108598749T>ACA10488801COL4A5c.1827T>A (p.Gly609=)
n.1283T>A
c.1503T>A (p.Gly501=)
c.1842T>A (p.Gly614=)
c.162T>A (p.Gly54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598749T>CCA517922369COL4A5c.1827T>C (p.Gly609=)
n.1283T>C
c.1503T>C (p.Gly501=)
c.1842T>C (p.Gly614=)
c.162T>C (p.Gly54=)
Xg.108598749T>GCA517922370COL4A5c.1827T>G (p.Gly609=)
n.1283T>G
c.1503T>G (p.Gly501=)
c.1842T>G (p.Gly614=)
c.162T>G (p.Gly54=)
Xg.108598749T=CA2450688820COL4A5c.1827T= (p.Gly609=)
n.1283T=
c.1503T= (p.Gly501=)
c.1842T= (p.Gly614=)
c.162T= (p.Gly54=)
Xg.108598750T>ACA413845696COL4A5c.1828T>A (p.Leu610Ile)
n.1284T>A
c.1504T>A (p.Leu502Ile)
c.1843T>A (p.Leu615Ile)
c.163T>A (p.Leu55Ile)
Xg.108598750T>CCA517922371COL4A5c.1828T>C (p.Leu610=)
n.1284T>C
c.1504T>C (p.Leu502=)
c.1843T>C (p.Leu615=)
c.163T>C (p.Leu55=)
 ClinVar dbSNP
Xg.108598750T>GCA413845697COL4A5c.1828T>G (p.Leu610Val)
n.1284T>G
c.1504T>G (p.Leu502Val)
c.1843T>G (p.Leu615Val)
c.163T>G (p.Leu55Val)
Xg.108598751T>ACA413845700COL4A5c.1829T>A (p.Leu610Ter)
n.1285T>A
c.1505T>A (p.Leu502Ter)
c.1844T>A (p.Leu615Ter)
c.164T>A (p.Leu55Ter)
 dbSNP
Xg.108598751T>CCA413845699COL4A5c.1829T>C (p.Leu610Ser)
n.1285T>C
c.1505T>C (p.Leu502Ser)
c.1844T>C (p.Leu615Ser)
c.164T>C (p.Leu55Ser)
Xg.108598751T>GCA413845698COL4A5c.1829T>G (p.Leu610Ter)
n.1285T>G
c.1505T>G (p.Leu502Ter)
c.1844T>G (p.Leu615Ter)
c.164T>G (p.Leu55Ter)
Xg.108598751T=CA2450688821COL4A5c.1829T= (p.Leu610=)
n.1285T=
c.1505T= (p.Leu502=)
c.1844T= (p.Leu615=)
c.164T= (p.Leu55=)
Xg.108598752A=CA2450688822COL4A5c.1830A= (p.Leu610=)
n.1286A=
c.1506A= (p.Leu502=)
c.1845A= (p.Leu615=)
c.165A= (p.Leu55=)
Xg.108598752A>CCA413845701COL4A5c.1830A>C (p.Leu610Phe)
n.1286A>C
c.1506A>C (p.Leu502Phe)
c.1845A>C (p.Leu615Phe)
c.165A>C (p.Leu55Phe)
Xg.108598752A>GCA517922375COL4A5c.1830A>G (p.Leu610=)
n.1286A>G
c.1506A>G (p.Leu502=)
c.1845A>G (p.Leu615=)
c.165A>G (p.Leu55=)
Xg.108598752A>TCA413845702COL4A5c.1830A>T (p.Leu610Phe)
n.1286A>T
c.1506A>T (p.Leu502Phe)
c.1845A>T (p.Leu615Phe)
c.165A>T (p.Leu55Phe)
 dbSNP gnomAD v2 gnomAD v4
Xg.108598753C>ACA413845703COL4A5c.1831C>A (p.Pro611Thr)
n.1287C>A
c.1507C>A (p.Pro503Thr)
c.1846C>A (p.Pro616Thr)
c.166C>A (p.Pro56Thr)
Xg.108598753C>GCA413845704COL4A5c.1831C>G (p.Pro611Ala)
n.1287C>G
c.1507C>G (p.Pro503Ala)
c.1846C>G (p.Pro616Ala)
c.166C>G (p.Pro56Ala)
Xg.108598753C>TCA413845705COL4A5c.1831C>T (p.Pro611Ser)
n.1287C>T
c.1507C>T (p.Pro503Ser)
c.1846C>T (p.Pro616Ser)
c.166C>T (p.Pro56Ser)
Xg.108598754delCA2825002920COL4A5c.1832del (p.Pro611GlnfsTer7)
n.1288del
c.1508del (p.Pro503GlnfsTer7)
c.1847del (p.Pro616GlnfsTer7)
c.167del (p.Pro56GlnfsTer7)
 ClinVar
Xg.108598754C>ACA413845706COL4A5c.1832C>A (p.Pro611Gln)
n.1288C>A
c.1508C>A (p.Pro503Gln)
c.1847C>A (p.Pro616Gln)
c.167C>A (p.Pro56Gln)
Xg.108598754C=CA2450688823COL4A5c.1832C= (p.Pro611=)
n.1288C=
c.1508C= (p.Pro503=)
c.1847C= (p.Pro616=)
c.167C= (p.Pro56=)
Xg.108598754C>GCA413845707COL4A5c.1832C>G (p.Pro611Arg)
n.1288C>G
c.1508C>G (p.Pro503Arg)
c.1847C>G (p.Pro616Arg)
c.167C>G (p.Pro56Arg)
Xg.108598754C>TCA413845708COL4A5c.1832C>T (p.Pro611Leu)
n.1288C>T
c.1508C>T (p.Pro503Leu)
c.1847C>T (p.Pro616Leu)
c.167C>T (p.Pro56Leu)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.108598755A=CA2450688824COL4A5c.1833A= (p.Pro611=)
n.1289A=
c.1509A= (p.Pro503=)
c.1848A= (p.Pro616=)
c.168A= (p.Pro56=)
Xg.108598755A>CCA517922376COL4A5c.1833A>C (p.Pro611=)
n.1289A>C
c.1509A>C (p.Pro503=)
c.1848A>C (p.Pro616=)
c.168A>C (p.Pro56=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598755A>GCA517922377COL4A5c.1833A>G (p.Pro611=)
n.1289A>G
c.1509A>G (p.Pro503=)
c.1848A>G (p.Pro616=)
c.168A>G (p.Pro56=)
 ClinVar
Xg.108598755A>TCA517922378COL4A5c.1833A>T (p.Pro611=)
n.1289A>T
c.1509A>T (p.Pro503=)
c.1848A>T (p.Pro616=)
c.168A>T (p.Pro56=)
Xg.108598755dupCA2694412577COL4A5c.1833dup (p.Gly612ArgfsTer22)
n.1289dup
c.1509dup (p.Gly504ArgfsTer22)
c.1848dup (p.Gly617ArgfsTer22)
c.168dup (p.Gly57ArgfsTer22)
 gnomAD v4
Xg.108598756G>ACA413845709COL4A5c.1834G>A (p.Gly612Ser)
n.1290G>A
c.1510G>A (p.Gly504Ser)
c.1849G>A (p.Gly617Ser)
c.169G>A (p.Gly57Ser)
Xg.108598756G>CCA413845710COL4A5c.1834G>C (p.Gly612Arg)
n.1290G>C
c.1510G>C (p.Gly504Arg)
c.1849G>C (p.Gly617Arg)
c.169G>C (p.Gly57Arg)
 ClinVar
Xg.108598756G>TCA413845711COL4A5c.1834G>T (p.Gly612Cys)
n.1290G>T
c.1510G>T (p.Gly504Cys)
c.1849G>T (p.Gly617Cys)
c.169G>T (p.Gly57Cys)
 COSMIC COSMIC
Xg.108598757G>ACA261063COL4A5c.1835G>A (p.Gly612Asp)
n.1291G>A
c.1511G>A (p.Gly504Asp)
c.1850G>A (p.Gly617Asp)
c.170G>A (p.Gly57Asp)
 ClinVar dbSNP
Xg.108598757G>CCA413845713COL4A5c.1835G>C (p.Gly612Ala)
n.1291G>C
c.1511G>C (p.Gly504Ala)
c.1850G>C (p.Gly617Ala)
c.170G>C (p.Gly57Ala)
Xg.108598757G=CA2450688825COL4A5c.1835G= (p.Gly612=)
n.1291G=
c.1511G= (p.Gly504=)
c.1850G= (p.Gly617=)
c.170G= (p.Gly57=)
Xg.108598757G>TCA413845712COL4A5c.1835G>T (p.Gly612Val)
n.1291G>T
c.1511G>T (p.Gly504Val)
c.1850G>T (p.Gly617Val)
c.170G>T (p.Gly57Val)
Xg.108598758C>ACA517922380COL4A5c.1836C>A (p.Gly612=)
n.1292C>A
c.1512C>A (p.Gly504=)
c.1851C>A (p.Gly617=)
c.171C>A (p.Gly57=)
Xg.108598758C=CA2450688826COL4A5c.1836C= (p.Gly612=)
n.1292C=
c.1512C= (p.Gly504=)
c.1851C= (p.Gly617=)
c.171C= (p.Gly57=)
Xg.108598758C>GCA517922381COL4A5c.1836C>G (p.Gly612=)
n.1292C>G
c.1512C>G (p.Gly504=)
c.1851C>G (p.Gly617=)
c.171C>G (p.Gly57=)
Xg.108598758C>TCA517922382COL4A5c.1836C>T (p.Gly612=)
n.1292C>T
c.1512C>T (p.Gly504=)
c.1851C>T (p.Gly617=)
c.171C>T (p.Gly57=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108598759C>ACA413845714COL4A5c.1837C>A (p.Leu613Ile)
n.1293C>A
c.1513C>A (p.Leu505Ile)
c.1852C>A (p.Leu618Ile)
c.172C>A (p.Leu58Ile)
 gnomAD v4
Xg.108598759C>GCA413845715COL4A5c.1837C>G (p.Leu613Val)
n.1293C>G
c.1513C>G (p.Leu505Val)
c.1852C>G (p.Leu618Val)
c.172C>G (p.Leu58Val)
Xg.108598759C>TCA413845716COL4A5c.1837C>T (p.Leu613Phe)
n.1293C>T
c.1513C>T (p.Leu505Phe)
c.1852C>T (p.Leu618Phe)
c.172C>T (p.Leu58Phe)
Xg.108598760T>ACA413845717COL4A5c.1838T>A (p.Leu613His)
n.1294T>A
c.1514T>A (p.Leu505His)
c.1853T>A (p.Leu618His)
c.173T>A (p.Leu58His)
Xg.108598760T>CCA413845718COL4A5c.1838T>C (p.Leu613Pro)
n.1294T>C
c.1514T>C (p.Leu505Pro)
c.1853T>C (p.Leu618Pro)
c.173T>C (p.Leu58Pro)
 gnomAD v4
Xg.108598760T>GCA413845719COL4A5c.1838T>G (p.Leu613Arg)
n.1294T>G
c.1514T>G (p.Leu505Arg)
c.1853T>G (p.Leu618Arg)
c.173T>G (p.Leu58Arg)
Xg.108598761C>ACA517922385COL4A5c.1839C>A (p.Leu613=)
n.1295C>A
c.1515C>A (p.Leu505=)
c.1854C>A (p.Leu618=)
c.174C>A (p.Leu58=)
Xg.108598761C>GCA517922389COL4A5c.1839C>G (p.Leu613=)
n.1295C>G
c.1515C>G (p.Leu505=)
c.1854C>G (p.Leu618=)
c.174C>G (p.Leu58=)
Xg.108598761C>TCA517922387COL4A5c.1839C>T (p.Leu613=)
n.1295C>T
c.1515C>T (p.Leu505=)
c.1854C>T (p.Leu618=)
c.174C>T (p.Leu58=)
 ClinVar dbSNP
Xg.108598762C>ACA413845720COL4A5c.1840C>A (p.Pro614Thr)
n.1296C>A
c.1516C>A (p.Pro506Thr)
c.1855C>A (p.Pro619Thr)
c.175C>A (p.Pro59Thr)
Xg.108598762C>GCA413845721COL4A5c.1840C>G (p.Pro614Ala)
n.1296C>G
c.1516C>G (p.Pro506Ala)
c.1855C>G (p.Pro619Ala)
c.175C>G (p.Pro59Ala)
Xg.108598762C>TCA413845722COL4A5c.1840C>T (p.Pro614Ser)
n.1296C>T
c.1516C>T (p.Pro506Ser)
c.1855C>T (p.Pro619Ser)
c.175C>T (p.Pro59Ser)
 COSMIC COSMIC
Xg.108598763C>ACA413845723COL4A5c.1841C>A (p.Pro614Gln)
n.1297C>A
c.1517C>A (p.Pro506Gln)
c.1856C>A (p.Pro619Gln)
c.176C>A (p.Pro59Gln)
Xg.108598763C>GCA413845724COL4A5c.1841C>G (p.Pro614Arg)
n.1297C>G
c.1517C>G (p.Pro506Arg)
c.1856C>G (p.Pro619Arg)
c.176C>G (p.Pro59Arg)
Xg.108598763C>TCA413845725COL4A5c.1841C>T (p.Pro614Leu)
n.1297C>T
c.1517C>T (p.Pro506Leu)
c.1856C>T (p.Pro619Leu)
c.176C>T (p.Pro59Leu)
Xg.108598763_108598772delinsCAGGGAATATCA2450688827COL4A5c.1841_1850delinsCAGGGAATAT (p.Pro614=)
n.1297_1306delinsCAGGGAATAT
c.1517_1526delinsCAGGGAATAT (p.Pro506=)
c.1856_1865delinsCAGGGAATAT (p.Pro619=)
c.176_185delinsCAGGGAATAT (p.Pro59=)
Xg.108598764A>CCA517922390COL4A5c.1842A>C (p.Pro614=)
n.1298A>C
c.1518A>C (p.Pro506=)
c.1857A>C (p.Pro619=)
c.177A>C (p.Pro59=)
Xg.108598764A>GCA517922391COL4A5c.1842A>G (p.Pro614=)
n.1298A>G
c.1518A>G (p.Pro506=)
c.1857A>G (p.Pro619=)
c.177A>G (p.Pro59=)
Xg.108598764A>TCA517922393COL4A5c.1842A>T (p.Pro614=)
n.1298A>T
c.1518A>T (p.Pro506=)
c.1857A>T (p.Pro619=)
c.177A>T (p.Pro59=)
Xg.108598768_108598776delCA891843930COL4A5c.1846_1854del (p.Asn616_Gly618del)
n.1302_1310del
c.1522_1530del (p.Asn508_Gly510del)
c.1861_1869del (p.Asn621_Gly623del)
c.181_189del (p.Asn61_Gly63del)
Xg.108598765G>ACA413845727COL4A5c.1843G>A (p.Gly615Arg)
n.1299G>A
c.1519G>A (p.Gly507Arg)
c.1858G>A (p.Gly620Arg)
c.178G>A (p.Gly60Arg)
 ClinVar dbSNP
Xg.108598765G>CCA413845728COL4A5c.1843G>C (p.Gly615Arg)
n.1299G>C
c.1519G>C (p.Gly507Arg)
c.1858G>C (p.Gly620Arg)
c.178G>C (p.Gly60Arg)
Xg.108598765G=CA2450688828COL4A5c.1843G= (p.Gly615=)
n.1299G=
c.1519G= (p.Gly507=)
c.1858G= (p.Gly620=)
c.178G= (p.Gly60=)
Xg.108598765G>TCA413845726COL4A5c.1843G>T (p.Gly615Trp)
n.1299G>T
c.1519G>T (p.Gly507Trp)
c.1858G>T (p.Gly620Trp)
c.178G>T (p.Gly60Trp)
Xg.108598767delCA2695235630COL4A5c.1845del (p.Asn616IlefsTer2)
n.1301del
c.1521del (p.Asn508IlefsTer2)
c.1860del (p.Asn621IlefsTer2)
c.180del (p.Asn61IlefsTer2)
Xg.108598766G>ACA275123COL4A5c.1844G>A (p.Gly615Glu)
n.1300G>A
c.1520G>A (p.Gly507Glu)
c.1859G>A (p.Gly620Glu)
c.179G>A (p.Gly60Glu)
 ClinVar dbSNP gnomAD v4
Xg.108598766G>CCA413845729COL4A5c.1844G>C (p.Gly615Ala)
n.1300G>C
c.1520G>C (p.Gly507Ala)
c.1859G>C (p.Gly620Ala)
c.179G>C (p.Gly60Ala)
Xg.108598766G=CA2450688829COL4A5c.1844G= (p.Gly615=)
n.1300G=
c.1520G= (p.Gly507=)
c.1859G= (p.Gly620=)
c.179G= (p.Gly60=)
Xg.108598766G>TCA413845730COL4A5c.1844G>T (p.Gly615Val)
n.1300G>T
c.1520G>T (p.Gly507Val)
c.1859G>T (p.Gly620Val)
c.179G>T (p.Gly60Val)
Xg.108598767G>ACA517922397COL4A5c.1845G>A (p.Gly615=)
n.1301G>A
c.1521G>A (p.Gly507=)
c.1860G>A (p.Gly620=)
c.180G>A (p.Gly60=)
 dbSNP gnomAD v4 COSMIC
Xg.108598767G>CCA517922399COL4A5c.1845G>C (p.Gly615=)
n.1301G>C
c.1521G>C (p.Gly507=)
c.1860G>C (p.Gly620=)
c.180G>C (p.Gly60=)
 ClinVar
Xg.108598767G>TCA517922400COL4A5c.1845G>T (p.Gly615=)
n.1301G>T
c.1521G>T (p.Gly507=)
c.1860G>T (p.Gly620=)
c.180G>T (p.Gly60=)
Xg.108598768A=CA2450688830COL4A5c.1846A= (p.Asn616=)
n.1302A=
c.1522A= (p.Asn508=)
c.1861A= (p.Asn621=)
c.181A= (p.Asn61=)
Xg.108598768A>CCA413845731COL4A5c.1846A>C (p.Asn616His)
n.1302A>C
c.1522A>C (p.Asn508His)
c.1861A>C (p.Asn621His)
c.181A>C (p.Asn61His)
Xg.108598768A>GCA413845732COL4A5c.1846A>G (p.Asn616Asp)
n.1302A>G
c.1522A>G (p.Asn508Asp)
c.1861A>G (p.Asn621Asp)
c.181A>G (p.Asn61Asp)
 gnomAD v4
Xg.108598768A>TCA10488802COL4A5c.1846A>T (p.Asn616Tyr)
n.1302A>T
c.1522A>T (p.Asn508Tyr)
c.1861A>T (p.Asn621Tyr)
c.181A>T (p.Asn61Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108598769A>CCA413845733COL4A5c.1847A>C (p.Asn616Thr)
n.1303A>C
c.1523A>C (p.Asn508Thr)
c.1862A>C (p.Asn621Thr)
c.182A>C (p.Asn61Thr)
Xg.108598769A>GCA413845734COL4A5c.1847A>G (p.Asn616Ser)
n.1303A>G
c.1523A>G (p.Asn508Ser)
c.1862A>G (p.Asn621Ser)
c.182A>G (p.Asn61Ser)
Xg.108598769A>TCA413845735COL4A5c.1847A>T (p.Asn616Ile)
n.1303A>T
c.1523A>T (p.Asn508Ile)
c.1862A>T (p.Asn621Ile)
c.182A>T (p.Asn61Ile)
Xg.108598770T>ACA413845736COL4A5c.1848T>A (p.Asn616Lys)
n.1304T>A
c.1524T>A (p.Asn508Lys)
c.1863T>A (p.Asn621Lys)
c.183T>A (p.Asn61Lys)
 COSMIC COSMIC
Xg.108598770T>CCA517922401COL4A5c.1848T>C (p.Asn616=)
n.1304T>C
c.1524T>C (p.Asn508=)
c.1863T>C (p.Asn621=)
c.183T>C (p.Asn61=)
 ClinVar
Xg.108598770T>GCA413845737COL4A5c.1848T>G (p.Asn616Lys)
n.1304T>G
c.1524T>G (p.Asn508Lys)
c.1863T>G (p.Asn621Lys)
c.183T>G (p.Asn61Lys)
Xg.108598771A=CA2450688831COL4A5c.1849A= (p.Ile617=)
n.1305A=
c.1525A= (p.Ile509=)
c.1864A= (p.Ile622=)
c.184A= (p.Ile62=)
Xg.108598771A>CCA413845738COL4A5c.1849A>C (p.Ile617Leu)
n.1305A>C
c.1525A>C (p.Ile509Leu)
c.1864A>C (p.Ile622Leu)
c.184A>C (p.Ile62Leu)
Xg.108598771A>GCA334038930COL4A5c.1849A>G (p.Ile617Val)
n.1305A>G
c.1525A>G (p.Ile509Val)
c.1864A>G (p.Ile622Val)
c.184A>G (p.Ile62Val)
 dbSNP gnomAD v4
Xg.108598771A>TCA413845739COL4A5c.1849A>T (p.Ile617Leu)
n.1305A>T
c.1525A>T (p.Ile509Leu)
c.1864A>T (p.Ile622Leu)
c.184A>T (p.Ile62Leu)
Xg.108598772T>ACA413845740COL4A5c.1850T>A (p.Ile617Lys)
n.1306T>A
c.1526T>A (p.Ile509Lys)
c.1865T>A (p.Ile622Lys)
c.185T>A (p.Ile62Lys)
Xg.108598772T>CCA413845742COL4A5c.1850T>C (p.Ile617Thr)
n.1306T>C
c.1526T>C (p.Ile509Thr)
c.1865T>C (p.Ile622Thr)
c.185T>C (p.Ile62Thr)
Xg.108598772T>GCA413845741COL4A5c.1850T>G (p.Ile617Arg)
n.1306T>G
c.1526T>G (p.Ile509Arg)
c.1865T>G (p.Ile622Arg)
c.185T>G (p.Ile62Arg)
Xg.108598773A>CCA517922405COL4A5c.1851A>C (p.Ile617=)
n.1307A>C
c.1527A>C (p.Ile509=)
c.1866A>C (p.Ile622=)
c.186A>C (p.Ile62=)
Xg.108598773A>GCA413845743COL4A5c.1851A>G (p.Ile617Met)
n.1307A>G
c.1527A>G (p.Ile509Met)
c.1866A>G (p.Ile622Met)
c.186A>G (p.Ile62Met)
Xg.108598773A>TCA517922407COL4A5c.1851A>T (p.Ile617=)
n.1307A>T
c.1527A>T (p.Ile509=)
c.1866A>T (p.Ile622=)
c.186A>T (p.Ile62=)
Xg.108598774G>ACA413845744COL4A5c.1852G>A (p.Gly618Arg)
n.1308G>A
c.1528G>A (p.Gly510Arg)
c.1867G>A (p.Gly623Arg)
c.187G>A (p.Gly63Arg)
Xg.108598774G>CCA413845745COL4A5c.1852G>C (p.Gly618Arg)
n.1308G>C
c.1528G>C (p.Gly510Arg)
c.1867G>C (p.Gly623Arg)
c.187G>C (p.Gly63Arg)
Xg.108598774G=CA2450688832COL4A5c.1852G= (p.Gly618=)
n.1308G=
c.1528G= (p.Gly510=)
c.1867G= (p.Gly623=)
c.187G= (p.Gly63=)
Xg.108598774G>TCA413845746COL4A5c.1852G>T (p.Gly618Trp)
n.1308G>T
c.1528G>T (p.Gly510Trp)
c.1867G>T (p.Gly623Trp)
c.187G>T (p.Gly63Trp)
 dbSNP
Xg.108598775G>ACA413845747COL4A5c.1853G>A (p.Gly618Glu)
n.1309G>A
c.1529G>A (p.Gly510Glu)
c.1868G>A (p.Gly623Glu)
c.188G>A (p.Gly63Glu)
Xg.108598775G>CCA413845748COL4A5c.1853G>C (p.Gly618Ala)
n.1309G>C
c.1529G>C (p.Gly510Ala)
c.1868G>C (p.Gly623Ala)
c.188G>C (p.Gly63Ala)
Xg.108598775G>TCA413845749COL4A5c.1853G>T (p.Gly618Val)
n.1309G>T
c.1529G>T (p.Gly510Val)
c.1868G>T (p.Gly623Val)
c.188G>T (p.Gly63Val)
Xg.108598776G>ACA517922411COL4A5c.1854G>A (p.Gly618=)
n.1310G>A
c.1530G>A (p.Gly510=)
c.1869G>A (p.Gly623=)
c.189G>A (p.Gly63=)
Xg.108598776G>CCA517922413COL4A5c.1854G>C (p.Gly618=)
n.1310G>C
c.1530G>C (p.Gly510=)
c.1869G>C (p.Gly623=)
c.189G>C (p.Gly63=)
Xg.108598776G>TCA517922415COL4A5c.1854G>T (p.Gly618=)
n.1310G>T
c.1530G>T (p.Gly510=)
c.1869G>T (p.Gly623=)
c.189G>T (p.Gly63=)
 gnomAD v4
Xg.108598777C>ACA413845750COL4A5c.1855C>A (p.Pro619Thr)
n.1311C>A
c.1531C>A (p.Pro511Thr)
c.1870C>A (p.Pro624Thr)
c.190C>A (p.Pro64Thr)
 gnomAD v4
Xg.108598777C=CA2450688833COL4A5c.1855C= (p.Pro619=)
n.1311C=
c.1531C= (p.Pro511=)
c.1870C= (p.Pro624=)
c.190C= (p.Pro64=)
Xg.108598777C>GCA413845751COL4A5c.1855C>G (p.Pro619Ala)
n.1311C>G
c.1531C>G (p.Pro511Ala)
c.1870C>G (p.Pro624Ala)
c.190C>G (p.Pro64Ala)
Xg.108598777C>TCA413845752COL4A5c.1855C>T (p.Pro619Ser)
n.1311C>T
c.1531C>T (p.Pro511Ser)
c.1870C>T (p.Pro624Ser)
c.190C>T (p.Pro64Ser)
 ClinVar dbSNP
Xg.108598778C>ACA413845753COL4A5c.1856C>A (p.Pro619His)
n.1312C>A
c.1532C>A (p.Pro511His)
c.1871C>A (p.Pro624His)
c.191C>A (p.Pro64His)
Xg.108598778C=CA2450688834COL4A5c.1856C= (p.Pro619=)
n.1312C=
c.1532C= (p.Pro511=)
c.1871C= (p.Pro624=)
c.191C= (p.Pro64=)
Xg.108598778C>GCA413845754COL4A5c.1856C>G (p.Pro619Arg)
n.1312C>G
c.1532C>G (p.Pro511Arg)
c.1871C>G (p.Pro624Arg)
c.191C>G (p.Pro64Arg)
Xg.108598778C>TCA258555COL4A5c.1856C>T (p.Pro619Leu)
n.1312C>T
c.1532C>T (p.Pro511Leu)
c.1871C>T (p.Pro624Leu)
c.191C>T (p.Pro64Leu)
 ClinVar dbSNP
Xg.108598779T>ACA517922418COL4A5c.1857T>A (p.Pro619=)
n.1313T>A
c.1533T>A (p.Pro511=)
c.1872T>A (p.Pro624=)
c.192T>A (p.Pro64=)
Xg.108598779T>CCA517922420COL4A5c.1857T>C (p.Pro619=)
n.1313T>C
c.1533T>C (p.Pro511=)
c.1872T>C (p.Pro624=)
c.192T>C (p.Pro64=)
Xg.108598779T>GCA517922421COL4A5c.1857T>G (p.Pro619=)
n.1313T>G
c.1533T>G (p.Pro511=)
c.1872T>G (p.Pro624=)
c.192T>G (p.Pro64=)
Xg.108598780A=CA2450688835COL4A5c.1858A= (p.Met620=)
n.1314A=
c.1534A= (p.Met512=)
c.1873A= (p.Met625=)
c.193A= (p.Met65=)
Xg.108598780A>CCA413845755COL4A5c.1858A>C (p.Met620Leu)
n.1314A>C
c.1534A>C (p.Met512Leu)
c.1873A>C (p.Met625Leu)
c.193A>C (p.Met65Leu)
Xg.108598780A>GCA10488803COL4A5c.1858A>G (p.Met620Val)
n.1314A>G
c.1534A>G (p.Met512Val)
c.1873A>G (p.Met625Val)
c.193A>G (p.Met65Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598780A>TCA413845756COL4A5c.1858A>T (p.Met620Leu)
n.1314A>T
c.1534A>T (p.Met512Leu)
c.1873A>T (p.Met625Leu)
c.193A>T (p.Met65Leu)
Xg.108598781T>ACA413845757COL4A5c.1859T>A (p.Met620Lys)
n.1315T>A
c.1535T>A (p.Met512Lys)
c.1874T>A (p.Met625Lys)
c.194T>A (p.Met65Lys)
Xg.108598781T>CCA413845758COL4A5c.1859T>C (p.Met620Thr)
n.1315T>C
c.1535T>C (p.Met512Thr)
c.1874T>C (p.Met625Thr)
c.194T>C (p.Met65Thr)
Xg.108598781T>GCA413845759COL4A5c.1859T>G (p.Met620Arg)
n.1315T>G
c.1535T>G (p.Met512Arg)
c.1874T>G (p.Met625Arg)
c.194T>G (p.Met65Arg)
Xg.108598782G>ACA413845760COL4A5c.1860G>A (p.Met620Ile)
n.1316G>A
c.1536G>A (p.Met512Ile)
c.1875G>A (p.Met625Ile)
c.195G>A (p.Met65Ile)
 dbSNP
Xg.108598782G>CCA413845761COL4A5c.1860G>C (p.Met620Ile)
n.1316G>C
c.1536G>C (p.Met512Ile)
c.1875G>C (p.Met625Ile)
c.195G>C (p.Met65Ile)
Xg.108598782G=CA2450688836COL4A5c.1860G= (p.Met620=)
n.1316G=
c.1536G= (p.Met512=)
c.1875G= (p.Met625=)
c.195G= (p.Met65=)
Xg.108598782G>TCA413845762COL4A5c.1860G>T (p.Met620Ile)
n.1316G>T
c.1536G>T (p.Met512Ile)
c.1875G>T (p.Met625Ile)
c.195G>T (p.Met65Ile)
Xg.108598783_108598784delCA2579676326COL4A5c.1861_1862del (p.Gly621SerfsTer12)
n.1317_1318del
c.1537_1538del (p.Gly513SerfsTer12)
c.1876_1877del (p.Gly626SerfsTer12)
c.196_197del (p.Gly66SerfsTer12)
Xg.108598783G>ACA334038941COL4A5c.1861G>A (p.Gly621Ser)
n.1317G>A
c.1537G>A (p.Gly513Ser)
c.1876G>A (p.Gly626Ser)
c.196G>A (p.Gly66Ser)
 ClinVar dbSNP gnomAD v4
Xg.108598783G>CCA413845763COL4A5c.1861G>C (p.Gly621Arg)
n.1317G>C
c.1537G>C (p.Gly513Arg)
c.1876G>C (p.Gly626Arg)
c.196G>C (p.Gly66Arg)
Xg.108598783G=CA2450688837COL4A5c.1861G= (p.Gly621=)
n.1317G=
c.1537G= (p.Gly513=)
c.1876G= (p.Gly626=)
c.196G= (p.Gly66=)
Xg.108598783G>TCA258558COL4A5c.1861G>T (p.Gly621Cys)
n.1317G>T
c.1537G>T (p.Gly513Cys)
c.1876G>T (p.Gly626Cys)
c.196G>T (p.Gly66Cys)
 dbSNP
Xg.108598784G>ACA413845765COL4A5c.1862G>A (p.Gly621Asp)
n.1318G>A
c.1538G>A (p.Gly513Asp)
c.1877G>A (p.Gly626Asp)
c.197G>A (p.Gly66Asp)
 ClinVar dbSNP
Xg.108598784G>CCA413845766COL4A5c.1862G>C (p.Gly621Ala)
n.1318G>C
c.1538G>C (p.Gly513Ala)
c.1877G>C (p.Gly626Ala)
c.197G>C (p.Gly66Ala)
Xg.108598784G=CA2450688838COL4A5c.1862G= (p.Gly621=)
n.1318G=
c.1538G= (p.Gly513=)
c.1877G= (p.Gly626=)
c.197G= (p.Gly66=)
Xg.108598784G>TCA413845764COL4A5c.1862G>T (p.Gly621Val)
n.1318G>T
c.1538G>T (p.Gly513Val)
c.1877G>T (p.Gly626Val)
c.197G>T (p.Gly66Val)
Xg.108598785T>ACA334038946COL4A5c.1863T>A (p.Gly621=)
n.1319T>A
c.1539T>A (p.Gly513=)
c.1878T>A (p.Gly626=)
c.198T>A (p.Gly66=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108598785T>CCA517922424COL4A5c.1863T>C (p.Gly621=)
n.1319T>C
c.1539T>C (p.Gly513=)
c.1878T>C (p.Gly626=)
c.198T>C (p.Gly66=)
Xg.108598785T>GCA517922425COL4A5c.1863T>G (p.Gly621=)
n.1319T>G
c.1539T>G (p.Gly513=)
c.1878T>G (p.Gly626=)
c.198T>G (p.Gly66=)
Xg.108598785T=CA2450688839COL4A5c.1863T= (p.Gly621=)
n.1319T=
c.1539T= (p.Gly513=)
c.1878T= (p.Gly626=)
c.198T= (p.Gly66=)
Xg.108598786C>ACA413845767COL4A5c.1864C>A (p.Pro622Thr)
n.1320C>A
c.1540C>A (p.Pro514Thr)
c.1879C>A (p.Pro627Thr)
c.199C>A (p.Pro67Thr)
Xg.108598786C=CA2450688840COL4A5c.1864C= (p.Pro622=)
n.1320C=
c.1540C= (p.Pro514=)
c.1879C= (p.Pro627=)
c.199C= (p.Pro67=)
Xg.108598786C>GCA413845768COL4A5c.1864C>G (p.Pro622Ala)
n.1320C>G
c.1540C>G (p.Pro514Ala)
c.1879C>G (p.Pro627Ala)
c.199C>G (p.Pro67Ala)
 gnomAD v4
Xg.108598786C>TCA10488804COL4A5c.1864C>T (p.Pro622Ser)
n.1320C>T
c.1540C>T (p.Pro514Ser)
c.1879C>T (p.Pro627Ser)
c.199C>T (p.Pro67Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108598787C>ACA413845769COL4A5c.1865C>A (p.Pro622His)
n.1321C>A
c.1541C>A (p.Pro514His)
c.1880C>A (p.Pro627His)
c.200C>A (p.Pro67His)
 gnomAD v4
Xg.108598787C>GCA413845770COL4A5c.1865C>G (p.Pro622Arg)
n.1321C>G
c.1541C>G (p.Pro514Arg)
c.1880C>G (p.Pro627Arg)
c.200C>G (p.Pro67Arg)
 gnomAD v4
Xg.108598787C>TCA413845771COL4A5c.1865C>T (p.Pro622Leu)
n.1321C>T
c.1541C>T (p.Pro514Leu)
c.1880C>T (p.Pro627Leu)
c.200C>T (p.Pro67Leu)
Xg.108598788C>ACA517922429COL4A5c.1866C>A (p.Pro622=)
n.1322C>A
c.1542C>A (p.Pro514=)
c.1881C>A (p.Pro627=)
c.201C>A (p.Pro67=)
Xg.108598788C=CA2450688841COL4A5c.1866C= (p.Pro622=)
n.1322C=
c.1542C= (p.Pro514=)
c.1881C= (p.Pro627=)
c.201C= (p.Pro67=)
Xg.108598788C>GCA517922430COL4A5c.1866C>G (p.Pro622=)
n.1322C>G
c.1542C>G (p.Pro514=)
c.1881C>G (p.Pro627=)
c.201C>G (p.Pro67=)
Xg.108598788C>TCA334038959COL4A5c.1866C>T (p.Pro622=)
n.1322C>T
c.1542C>T (p.Pro514=)
c.1881C>T (p.Pro627=)
c.201C>T (p.Pro67=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598789C>ACA413845772COL4A5c.1867C>A (p.Pro623Thr)
n.1323C>A
c.1543C>A (p.Pro515Thr)
c.1882C>A (p.Pro628Thr)
c.202C>A (p.Pro68Thr)
Xg.108598789C>GCA413845773COL4A5c.1867C>G (p.Pro623Ala)
n.1323C>G
c.1543C>G (p.Pro515Ala)
c.1882C>G (p.Pro628Ala)
c.202C>G (p.Pro68Ala)
Xg.108598789C>TCA413845774COL4A5c.1867C>T (p.Pro623Ser)
n.1323C>T
c.1543C>T (p.Pro515Ser)
c.1882C>T (p.Pro628Ser)
c.202C>T (p.Pro68Ser)
 COSMIC
Xg.108598790C>ACA413845775COL4A5c.1868C>A (p.Pro623His)
n.1324C>A
c.1544C>A (p.Pro515His)
c.1883C>A (p.Pro628His)
c.203C>A (p.Pro68His)
Xg.108598790C>GCA413845776COL4A5c.1868C>G (p.Pro623Arg)
n.1324C>G
c.1544C>G (p.Pro515Arg)
c.1883C>G (p.Pro628Arg)
c.203C>G (p.Pro68Arg)
Xg.108598790C>TCA413845777COL4A5c.1868C>T (p.Pro623Leu)
n.1324C>T
c.1544C>T (p.Pro515Leu)
c.1883C>T (p.Pro628Leu)
c.203C>T (p.Pro68Leu)
Xg.108598790_108598791delinsCTCA2450688842COL4A5c.1868_1869delinsCT (p.Pro623=)
n.1324_1325delinsCT
c.1544_1545delinsCT (p.Pro515=)
c.1883_1884delinsCT (p.Pro628=)
c.203_204delinsCT (p.Pro68=)
Xg.108598791delCA645293930COL4A5c.1869del (p.Gly624ValfsTer8)
n.1325del
c.1545del (p.Gly516ValfsTer8)
c.1884del (p.Gly629ValfsTer8)
c.204del (p.Gly69ValfsTer8)
 ClinVar dbSNP
Xg.108598791T>ACA517922432COL4A5c.1869T>A (p.Pro623=)
n.1325T>A
c.1545T>A (p.Pro515=)
c.1884T>A (p.Pro628=)
c.204T>A (p.Pro68=)
Xg.108598791T>CCA517922433COL4A5c.1869T>C (p.Pro623=)
n.1325T>C
c.1545T>C (p.Pro515=)
c.1884T>C (p.Pro628=)
c.204T>C (p.Pro68=)
Xg.108598791T>GCA517922434COL4A5c.1869T>G (p.Pro623=)
n.1325T>G
c.1545T>G (p.Pro515=)
c.1884T>G (p.Pro628=)
c.204T>G (p.Pro68=)
Xg.108598792G>ACA413845780COL4A5c.1870G>A (p.Gly624Ser)
n.1326G>A
c.1546G>A (p.Gly516Ser)
c.1885G>A (p.Gly629Ser)
c.205G>A (p.Gly69Ser)
Xg.108598792G>CCA413845779COL4A5c.1870G>C (p.Gly624Arg)
n.1326G>C
c.1546G>C (p.Gly516Arg)
c.1885G>C (p.Gly629Arg)
c.205G>C (p.Gly69Arg)
 ClinVar gnomAD v4
Xg.108598792G>TCA413845778COL4A5c.1870G>T (p.Gly624Cys)
n.1326G>T
c.1546G>T (p.Gly516Cys)
c.1885G>T (p.Gly629Cys)
c.205G>T (p.Gly69Cys)
Xg.108598793G>ACA258560COL4A5c.1871G>A (p.Gly624Asp)
n.1327G>A
c.1547G>A (p.Gly516Asp)
c.1886G>A (p.Gly629Asp)
c.206G>A (p.Gly69Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598793G>CCA413845782COL4A5c.1871G>C (p.Gly624Ala)
n.1327G>C
c.1547G>C (p.Gly516Ala)
c.1886G>C (p.Gly629Ala)
c.206G>C (p.Gly69Ala)
Xg.108598793G=CA2450688843COL4A5c.1871G= (p.Gly624=)
n.1327G=
c.1547G= (p.Gly516=)
c.1886G= (p.Gly629=)
c.206G= (p.Gly69=)
Xg.108598793G>TCA413845781COL4A5c.1871G>T (p.Gly624Val)
n.1327G>T
c.1547G>T (p.Gly516Val)
c.1886G>T (p.Gly629Val)
c.206G>T (p.Gly69Val)
 ClinVar dbSNP
Xg.108598794T>ACA517922438COL4A5c.1872T>A (p.Gly624=)
n.1328T>A
c.1548T>A (p.Gly516=)
c.1887T>A (p.Gly629=)
c.207T>A (p.Gly69=)
Xg.108598794T>CCA517922439COL4A5c.1872T>C (p.Gly624=)
n.1328T>C
c.1548T>C (p.Gly516=)
c.1887T>C (p.Gly629=)
c.207T>C (p.Gly69=)
Xg.108598794T>GCA517922440COL4A5c.1872T>G (p.Gly624=)
n.1328T>G
c.1548T>G (p.Gly516=)
c.1887T>G (p.Gly629=)
c.207T>G (p.Gly69=)
Xg.108598794_108598795insGACA2568587869COL4A5c.1872_1873insGA (p.Phe625AspfsTer8)
n.1328_1329insGA
c.1548_1549insGA (p.Phe517AspfsTer8)
c.1887_1888insGA (p.Phe630AspfsTer8)
c.207_208insGA (p.Phe70AspfsTer8)
Xg.108598795T>ACA413845783COL4A5c.1873T>A (p.Phe625Ile)
n.1329T>A
c.1549T>A (p.Phe517Ile)
c.1888T>A (p.Phe630Ile)
c.208T>A (p.Phe70Ile)
Xg.108598795T>CCA413845784COL4A5c.1873T>C (p.Phe625Leu)
n.1329T>C
c.1549T>C (p.Phe517Leu)
c.1888T>C (p.Phe630Leu)
c.208T>C (p.Phe70Leu)
Xg.108598795T>GCA413845785COL4A5c.1873T>G (p.Phe625Val)
n.1329T>G
c.1549T>G (p.Phe517Val)
c.1888T>G (p.Phe630Val)
c.208T>G (p.Phe70Val)
Xg.108598796T>ACA413845786COL4A5c.1874T>A (p.Phe625Tyr)
n.1330T>A
c.1550T>A (p.Phe517Tyr)
c.1889T>A (p.Phe630Tyr)
c.209T>A (p.Phe70Tyr)
Xg.108598796T>CCA413845787COL4A5c.1874T>C (p.Phe625Ser)
n.1330T>C
c.1550T>C (p.Phe517Ser)
c.1889T>C (p.Phe630Ser)
c.209T>C (p.Phe70Ser)
Xg.108598796T>GCA413845788COL4A5c.1874T>G (p.Phe625Cys)
n.1330T>G
c.1550T>G (p.Phe517Cys)
c.1889T>G (p.Phe630Cys)
c.209T>G (p.Phe70Cys)
Xg.108598797C>ACA413845789COL4A5c.1875C>A (p.Phe625Leu)
n.1331C>A
c.1551C>A (p.Phe517Leu)
c.1890C>A (p.Phe630Leu)
c.210C>A (p.Phe70Leu)
Xg.108598797C=CA2450688844COL4A5c.1875C= (p.Phe625=)
n.1331C=
c.1551C= (p.Phe517=)
c.1890C= (p.Phe630=)
c.210C= (p.Phe70=)
Xg.108598797C>GCA413845790COL4A5c.1875C>G (p.Phe625Leu)
n.1331C>G
c.1551C>G (p.Phe517Leu)
c.1890C>G (p.Phe630Leu)
c.210C>G (p.Phe70Leu)
Xg.108598797C>TCA517922441COL4A5c.1875C>T (p.Phe625=)
n.1331C>T
c.1551C>T (p.Phe517=)
c.1890C>T (p.Phe630=)
c.210C>T (p.Phe70=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108598798G>ACA10488805COL4A5c.1876G>A (p.Gly626Ser)
n.1332G>A
c.1552G>A (p.Gly518Ser)
c.1891G>A (p.Gly631Ser)
c.211G>A (p.Gly71Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598798G>CCA413845791COL4A5c.1876G>C (p.Gly626Arg)
n.1332G>C
c.1552G>C (p.Gly518Arg)
c.1891G>C (p.Gly631Arg)
c.211G>C (p.Gly71Arg)
Xg.108598798G=CA2450688845COL4A5c.1876G= (p.Gly626=)
n.1332G=
c.1552G= (p.Gly518=)
c.1891G= (p.Gly631=)
c.211G= (p.Gly71=)
Xg.108598798G>TCA413845792COL4A5c.1876G>T (p.Gly626Cys)
n.1332G>T
c.1552G>T (p.Gly518Cys)
c.1891G>T (p.Gly631Cys)
c.211G>T (p.Gly71Cys)
Xg.108598799G>ACA413845794COL4A5c.1877G>A (p.Gly626Asp)
n.1333G>A
c.1553G>A (p.Gly518Asp)
c.1892G>A (p.Gly631Asp)
c.212G>A (p.Gly71Asp)
Xg.108598799G>CCA258562COL4A5c.1877G>C (p.Gly626Ala)
n.1333G>C
c.1553G>C (p.Gly518Ala)
c.1892G>C (p.Gly631Ala)
c.212G>C (p.Gly71Ala)
 dbSNP
Xg.108598799G=CA2450688846COL4A5c.1877G= (p.Gly626=)
n.1333G=
c.1553G= (p.Gly518=)
c.1892G= (p.Gly631=)
c.212G= (p.Gly71=)
Xg.108598799G>TCA413845793COL4A5c.1877G>T (p.Gly626Val)
n.1333G>T
c.1553G>T (p.Gly518Val)
c.1892G>T (p.Gly631Val)
c.212G>T (p.Gly71Val)
 ClinVar dbSNP
Xg.108598800C>ACA517922442COL4A5c.1878C>A (p.Gly626=)
n.1334C>A
c.1554C>A (p.Gly518=)
c.1893C>A (p.Gly631=)
c.213C>A (p.Gly71=)
Xg.108598800C>GCA517922443COL4A5c.1878C>G (p.Gly626=)
n.1334C>G
c.1554C>G (p.Gly518=)
c.1893C>G (p.Gly631=)
c.213C>G (p.Gly71=)
Xg.108598800C>TCA517922444COL4A5c.1878C>T (p.Gly626=)
n.1334C>T
c.1554C>T (p.Gly518=)
c.1893C>T (p.Gly631=)
c.213C>T (p.Gly71=)
Xg.108598801C>ACA413845795COL4A5c.1879C>A (p.Pro627Thr)
n.1335C>A
c.1555C>A (p.Pro519Thr)
c.1894C>A (p.Pro632Thr)
c.214C>A (p.Pro72Thr)
Xg.108598801C>GCA413845796COL4A5c.1879C>G (p.Pro627Ala)
n.1335C>G
c.1555C>G (p.Pro519Ala)
c.1894C>G (p.Pro632Ala)
c.214C>G (p.Pro72Ala)
Xg.108598801C>TCA413845797COL4A5c.1879C>T (p.Pro627Ser)
n.1335C>T
c.1555C>T (p.Pro519Ser)
c.1894C>T (p.Pro632Ser)
c.214C>T (p.Pro72Ser)
 gnomAD v4
Xg.108598802C>ACA413845798COL4A5c.1880C>A (p.Pro627His)
n.1336C>A
c.1556C>A (p.Pro519His)
c.1895C>A (p.Pro632His)
c.215C>A (p.Pro72His)
Xg.108598802C>GCA413845799COL4A5c.1880C>G (p.Pro627Arg)
n.1336C>G
c.1556C>G (p.Pro519Arg)
c.1895C>G (p.Pro632Arg)
c.215C>G (p.Pro72Arg)
Xg.108598802C>TCA413845800COL4A5c.1880C>T (p.Pro627Leu)
n.1336C>T
c.1556C>T (p.Pro519Leu)
c.1895C>T (p.Pro632Leu)
c.215C>T (p.Pro72Leu)
 COSMIC COSMIC
Xg.108598803T>ACA517922445COL4A5c.1881T>A (p.Pro627=)
n.1337T>A
c.1557T>A (p.Pro519=)
c.1896T>A (p.Pro632=)
c.216T>A (p.Pro72=)
Xg.108598803T>CCA517922447COL4A5c.1881T>C (p.Pro627=)
n.1337T>C
c.1557T>C (p.Pro519=)
c.1896T>C (p.Pro632=)
c.216T>C (p.Pro72=)
Xg.108598803T>GCA517922446COL4A5c.1881T>G (p.Pro627=)
n.1337T>G
c.1557T>G (p.Pro519=)
c.1896T>G (p.Pro632=)
c.216T>G (p.Pro72=)
 dbSNP
Xg.108598803T=CA2450688847COL4A5c.1881T= (p.Pro627=)
n.1337T=
c.1557T= (p.Pro519=)
c.1896T= (p.Pro632=)
c.216T= (p.Pro72=)
Xg.108598804C>ACA413845801COL4A5c.1882C>A (p.Pro628Thr)
n.1338C>A
c.1558C>A (p.Pro520Thr)
c.1897C>A (p.Pro633Thr)
c.217C>A (p.Pro73Thr)
Xg.108598804C>GCA413845802COL4A5c.1882C>G (p.Pro628Ala)
n.1338C>G
c.1558C>G (p.Pro520Ala)
c.1897C>G (p.Pro633Ala)
c.217C>G (p.Pro73Ala)
Xg.108598804C>TCA413845803COL4A5c.1882C>T (p.Pro628Ser)
n.1338C>T
c.1558C>T (p.Pro520Ser)
c.1897C>T (p.Pro633Ser)
c.217C>T (p.Pro73Ser)
Xg.108598805C>ACA10488806COL4A5c.1883C>A (p.Pro628Gln)
n.1339C>A
c.1559C>A (p.Pro520Gln)
c.1898C>A (p.Pro633Gln)
c.218C>A (p.Pro73Gln)
 dbSNP ExAC gnomAD v2
Xg.108598805C=CA2450688848COL4A5c.1883C= (p.Pro628=)
n.1339C=
c.1559C= (p.Pro520=)
c.1898C= (p.Pro633=)
c.218C= (p.Pro73=)
Xg.108598805C>GCA413845804COL4A5c.1883C>G (p.Pro628Arg)
n.1339C>G
c.1559C>G (p.Pro520Arg)
c.1898C>G (p.Pro633Arg)
c.218C>G (p.Pro73Arg)
Xg.108598805C>TCA261066COL4A5c.1883C>T (p.Pro628Leu)
n.1339C>T
c.1559C>T (p.Pro520Leu)
c.1898C>T (p.Pro633Leu)
c.218C>T (p.Pro73Leu)
 dbSNP COSMIC COSMIC
Xg.108598806A>CCA517922448COL4A5c.1884A>C (p.Pro628=)
n.1340A>C
c.1560A>C (p.Pro520=)
c.1899A>C (p.Pro633=)
c.219A>C (p.Pro73=)
Xg.108598806A>GCA517922449COL4A5c.1884A>G (p.Pro628=)
n.1340A>G
c.1560A>G (p.Pro520=)
c.1899A>G (p.Pro633=)
c.219A>G (p.Pro73=)
Xg.108598806A>TCA517922450COL4A5c.1884A>T (p.Pro628=)
n.1340A>T
c.1560A>T (p.Pro520=)
c.1899A>T (p.Pro633=)
c.219A>T (p.Pro73=)
Xg.108598807G>ACA413845807COL4A5c.1885G>A (p.Gly629Ser)
n.1341G>A
c.1561G>A (p.Gly521Ser)
c.1900G>A (p.Gly634Ser)
c.220G>A (p.Gly74Ser)
Xg.108598807G>CCA413845806COL4A5c.1885G>C (p.Gly629Arg)
n.1341G>C
c.1561G>C (p.Gly521Arg)
c.1900G>C (p.Gly634Arg)
c.220G>C (p.Gly74Arg)
Xg.108598807G>TCA413845805COL4A5c.1885G>T (p.Gly629Cys)
n.1341G>T
c.1561G>T (p.Gly521Cys)
c.1900G>T (p.Gly634Cys)
c.220G>T (p.Gly74Cys)
Xg.108598808G>ACA258565COL4A5c.1886G>A (p.Gly629Asp)
n.1342G>A
c.1562G>A (p.Gly521Asp)
c.1901G>A (p.Gly634Asp)
c.221G>A (p.Gly74Asp)
 ClinVar dbSNP
Xg.108598808G>CCA413845808COL4A5c.1886G>C (p.Gly629Ala)
n.1342G>C
c.1562G>C (p.Gly521Ala)
c.1901G>C (p.Gly634Ala)
c.221G>C (p.Gly74Ala)
Xg.108598808G=CA2450688849COL4A5c.1886G= (p.Gly629=)
n.1342G=
c.1562G= (p.Gly521=)
c.1901G= (p.Gly634=)
c.221G= (p.Gly74=)
Xg.108598808G>TCA413845809COL4A5c.1886G>T (p.Gly629Val)
n.1342G>T
c.1562G>T (p.Gly521Val)
c.1901G>T (p.Gly634Val)
c.221G>T (p.Gly74Val)
Xg.108598809C>ACA517922451COL4A5c.1887C>A (p.Gly629=)
n.1343C>A
c.1563C>A (p.Gly521=)
c.1902C>A (p.Gly634=)
c.222C>A (p.Gly74=)
Xg.108598809C>GCA517922452COL4A5c.1887C>G (p.Gly629=)
n.1343C>G
c.1563C>G (p.Gly521=)
c.1902C>G (p.Gly634=)
c.222C>G (p.Gly74=)
Xg.108598809C>TCA517922453COL4A5c.1887C>T (p.Gly629=)
n.1343C>T
c.1563C>T (p.Gly521=)
c.1902C>T (p.Gly634=)
c.222C>T (p.Gly74=)
Xg.108598810C>ACA413845810COL4A5c.1888C>A (p.Pro630Thr)
n.1344C>A
c.1564C>A (p.Pro522Thr)
c.1903C>A (p.Pro635Thr)
c.223C>A (p.Pro75Thr)
Xg.108598810C>GCA413845811COL4A5c.1888C>G (p.Pro630Ala)
n.1344C>G
c.1564C>G (p.Pro522Ala)
c.1903C>G (p.Pro635Ala)
c.223C>G (p.Pro75Ala)
Xg.108598810C>TCA413845812COL4A5c.1888C>T (p.Pro630Ser)
n.1344C>T
c.1564C>T (p.Pro522Ser)
c.1903C>T (p.Pro635Ser)
c.223C>T (p.Pro75Ser)
 gnomAD v4
Xg.108598811C>ACA413845815COL4A5c.1889C>A (p.Pro630Gln)
n.1345C>A
c.1565C>A (p.Pro522Gln)
c.1904C>A (p.Pro635Gln)
c.224C>A (p.Pro75Gln)
Xg.108598811C=CA2450688850COL4A5c.1889C= (p.Pro630=)
n.1345C=
c.1565C= (p.Pro522=)
c.1904C= (p.Pro635=)
c.224C= (p.Pro75=)
Xg.108598811C>GCA413845814COL4A5c.1889C>G (p.Pro630Arg)
n.1345C>G
c.1565C>G (p.Pro522Arg)
c.1904C>G (p.Pro635Arg)
c.224C>G (p.Pro75Arg)
Xg.108598811C>TCA413845813COL4A5c.1889C>T (p.Pro630Leu)
n.1345C>T
c.1565C>T (p.Pro522Leu)
c.1904C>T (p.Pro635Leu)
c.224C>T (p.Pro75Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108598812A>CCA517922454COL4A5c.1890A>C (p.Pro630=)
n.1346A>C
c.1566A>C (p.Pro522=)
c.1905A>C (p.Pro635=)
c.225A>C (p.Pro75=)
 gnomAD v4
Xg.108598812A>GCA517922455COL4A5c.1890A>G (p.Pro630=)
n.1346A>G
c.1566A>G (p.Pro522=)
c.1905A>G (p.Pro635=)
c.225A>G (p.Pro75=)
 ClinVar dbSNP gnomAD v4
Xg.108598812A>TCA517922456COL4A5c.1890A>T (p.Pro630=)
n.1346A>T
c.1566A>T (p.Pro522=)
c.1905A>T (p.Pro635=)
c.225A>T (p.Pro75=)
Xg.108598813G>ACA413845816COL4A5c.1891G>A (p.Val631Ile)
n.1347G>A
c.1567G>A (p.Val523Ile)
c.1906G>A (p.Val636Ile)
c.226G>A (p.Val76Ile)
Xg.108598813G>CCA413845817COL4A5c.1891G>C (p.Val631Leu)
n.1347G>C
c.1567G>C (p.Val523Leu)
c.1906G>C (p.Val636Leu)
c.226G>C (p.Val76Leu)
Xg.108598813G>TCA413845818COL4A5c.1891G>T (p.Val631Leu)
n.1347G>T
c.1567G>T (p.Val523Leu)
c.1906G>T (p.Val636Leu)
c.226G>T (p.Val76Leu)
Xg.108598814T>ACA413845819COL4A5c.1892T>A (p.Val631Glu)
n.1348T>A
c.1568T>A (p.Val523Glu)
c.1907T>A (p.Val636Glu)
c.227T>A (p.Val76Glu)
Xg.108598814T>CCA413845820COL4A5c.1892T>C (p.Val631Ala)
n.1348T>C
c.1568T>C (p.Val523Ala)
c.1907T>C (p.Val636Ala)
c.227T>C (p.Val76Ala)
Xg.108598814T>GCA413845821COL4A5c.1892T>G (p.Val631Gly)
n.1348T>G
c.1568T>G (p.Val523Gly)
c.1907T>G (p.Val636Gly)
c.227T>G (p.Val76Gly)
Xg.108598815A>CCA517922460COL4A5c.1893A>C (p.Val631=)
n.1349A>C
c.1569A>C (p.Val523=)
c.1908A>C (p.Val636=)
c.228A>C (p.Val76=)
Xg.108598815A>GCA517922462COL4A5c.1893A>G (p.Val631=)
n.1349A>G
c.1569A>G (p.Val523=)
c.1908A>G (p.Val636=)
c.228A>G (p.Val76=)
Xg.108598815A>TCA517922461COL4A5c.1893A>T (p.Val631=)
n.1349A>T
c.1569A>T (p.Val523=)
c.1908A>T (p.Val636=)
c.228A>T (p.Val76=)
Xg.108598816G>ACA413845822COL4A5c.1894G>A (p.Gly632Ser)
n.1350G>A
c.1570G>A (p.Gly524Ser)
c.1909G>A (p.Gly637Ser)
c.229G>A (p.Gly77Ser)
Xg.108598816G>CCA413845824COL4A5c.1894G>C (p.Gly632Arg)
n.1350G>C
c.1570G>C (p.Gly524Arg)
c.1909G>C (p.Gly637Arg)
c.229G>C (p.Gly77Arg)
Xg.108598816G=CA2450688851COL4A5c.1894G= (p.Gly632=)
n.1350G=
c.1570G= (p.Gly524=)
c.1909G= (p.Gly637=)
c.229G= (p.Gly77=)
Xg.108598816G>TCA413845823COL4A5c.1894G>T (p.Gly632Cys)
n.1350G>T
c.1570G>T (p.Gly524Cys)
c.1909G>T (p.Gly637Cys)
c.229G>T (p.Gly77Cys)
Xg.108598817G>ACA258567COL4A5c.1895G>A (p.Gly632Asp)
n.1351G>A
c.1571G>A (p.Gly524Asp)
c.1910G>A (p.Gly637Asp)
c.230G>A (p.Gly77Asp)
 ClinVar dbSNP
Xg.108598817G>CCA413845825COL4A5c.1895G>C (p.Gly632Ala)
n.1351G>C
c.1571G>C (p.Gly524Ala)
c.1910G>C (p.Gly637Ala)
c.230G>C (p.Gly77Ala)
Xg.108598817G=CA2450688852COL4A5c.1895G= (p.Gly632=)
n.1351G=
c.1571G= (p.Gly524=)
c.1910G= (p.Gly637=)
c.230G= (p.Gly77=)
Xg.108598817G>TCA413845826COL4A5c.1895G>T (p.Gly632Val)
n.1351G>T
c.1571G>T (p.Gly524Val)
c.1910G>T (p.Gly637Val)
c.230G>T (p.Gly77Val)
 ClinVar
Xg.108598818T>ACA517922464COL4A5c.1896T>A (p.Gly632=)
n.1352T>A
c.1572T>A (p.Gly524=)
c.1911T>A (p.Gly637=)
c.231T>A (p.Gly77=)
 gnomAD v4
Xg.108598818T>CCA517922465COL4A5c.1896T>C (p.Gly632=)
n.1352T>C
c.1572T>C (p.Gly524=)
c.1911T>C (p.Gly637=)
c.231T>C (p.Gly77=)
Xg.108598818T>GCA517922466COL4A5c.1896T>G (p.Gly632=)
n.1352T>G
c.1572T>G (p.Gly524=)
c.1911T>G (p.Gly637=)
c.231T>G (p.Gly77=)
Xg.108598819G>ACA258569COL4A5c.1897G>A (p.Glu633Lys)
n.1353G>A
c.1573G>A (p.Glu525Lys)
c.1912G>A (p.Glu638Lys)
c.232G>A (p.Glu78Lys)
 dbSNP
Xg.108598819G>CCA413845827COL4A5c.1897G>C (p.Glu633Gln)
n.1353G>C
c.1573G>C (p.Glu525Gln)
c.1912G>C (p.Glu638Gln)
c.232G>C (p.Glu78Gln)
Xg.108598819G=CA2450688853COL4A5c.1897G= (p.Glu633=)
n.1353G=
c.1573G= (p.Glu525=)
c.1912G= (p.Glu638=)
c.232G= (p.Glu78=)
Xg.108598819G>TCA413845828COL4A5c.1897G>T (p.Glu633Ter)
n.1353G>T
c.1573G>T (p.Glu525Ter)
c.1912G>T (p.Glu638Ter)
c.232G>T (p.Glu78Ter)
Xg.108598819_108598820delinsGACA2450688854COL4A5c.1897_1898delinsGA (p.Glu633=)
n.1353_1354delinsGA
c.1573_1574delinsGA (p.Glu525=)
c.1912_1913delinsGA (p.Glu638=)
c.232_233delinsGA (p.Glu78=)

Number of alleles fetched