Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108666498G>ACA413847585COL4A5c.3457G>A (p.Gly1153Ser)
c.3133G>A (p.Gly1045Ser)
c.1030G>A (p.Gly344Ser)
c.3472G>A (p.Gly1158Ser)
c.1792G>A (p.Gly598Ser)
 gnomAD v4
Xg.108666498G>CCA334045617COL4A5c.3457G>C (p.Gly1153Arg)
c.3133G>C (p.Gly1045Arg)
c.1030G>C (p.Gly344Arg)
c.3472G>C (p.Gly1158Arg)
c.1792G>C (p.Gly598Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666498G=CA2450712312COL4A5c.3457G= (p.Gly1153=)
c.3133G= (p.Gly1045=)
c.1030G= (p.Gly344=)
c.3472G= (p.Gly1158=)
c.1792G= (p.Gly598=)
Xg.108666498G>TCA413847590COL4A5c.3457G>T (p.Gly1153Cys)
c.3133G>T (p.Gly1045Cys)
c.1030G>T (p.Gly344Cys)
c.3472G>T (p.Gly1158Cys)
c.1792G>T (p.Gly598Cys)
Xg.108666499delCA2739289607COL4A5c.3458del (p.Gly1153ValfsTer?)
c.3134del (p.Gly1045ValfsTer?)
c.1031del (p.Gly344ValfsTer?)
c.3473del (p.Gly1158ValfsTer?)
c.1793del (p.Gly598ValfsTer?)
Xg.108666499G>ACA413847593COL4A5c.3458G>A (p.Gly1153Asp)
c.3134G>A (p.Gly1045Asp)
c.1031G>A (p.Gly344Asp)
c.3473G>A (p.Gly1158Asp)
c.1793G>A (p.Gly598Asp)
 gnomAD v4
Xg.108666499G>CCA413847596COL4A5c.3458G>C (p.Gly1153Ala)
c.3134G>C (p.Gly1045Ala)
c.1031G>C (p.Gly344Ala)
c.3473G>C (p.Gly1158Ala)
c.1793G>C (p.Gly598Ala)
Xg.108666499G=CA2450712313COL4A5c.3458G= (p.Gly1153=)
c.3134G= (p.Gly1045=)
c.1031G= (p.Gly344=)
c.3473G= (p.Gly1158=)
c.1793G= (p.Gly598=)
Xg.108666499G>TCA413847598COL4A5c.3458G>T (p.Gly1153Val)
c.3134G>T (p.Gly1045Val)
c.1031G>T (p.Gly344Val)
c.3473G>T (p.Gly1158Val)
c.1793G>T (p.Gly598Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666500T>ACA517922314COL4A5c.3459T>A (p.Gly1153=)
c.3135T>A (p.Gly1045=)
c.1032T>A (p.Gly344=)
c.3474T>A (p.Gly1158=)
c.1794T>A (p.Gly598=)
Xg.108666500T>CCA517922313COL4A5c.3459T>C (p.Gly1153=)
c.3135T>C (p.Gly1045=)
c.1032T>C (p.Gly344=)
c.3474T>C (p.Gly1158=)
c.1794T>C (p.Gly598=)
Xg.108666500T>GCA517922312COL4A5c.3459T>G (p.Gly1153=)
c.3135T>G (p.Gly1045=)
c.1032T>G (p.Gly344=)
c.3474T>G (p.Gly1158=)
c.1794T>G (p.Gly598=)
Xg.108666501G>ACA413847602COL4A5c.3460G>A (p.Gly1154Arg)
c.3136G>A (p.Gly1046Arg)
c.1033G>A (p.Gly345Arg)
c.3475G>A (p.Gly1159Arg)
c.1795G>A (p.Gly599Arg)
 gnomAD v4
Xg.108666501G>CCA413847609COL4A5c.3460G>C (p.Gly1154Arg)
c.3136G>C (p.Gly1046Arg)
c.1033G>C (p.Gly345Arg)
c.3475G>C (p.Gly1159Arg)
c.1795G>C (p.Gly599Arg)
Xg.108666501G>TCA413847606COL4A5c.3460G>T (p.Gly1154Ter)
c.3136G>T (p.Gly1046Ter)
c.1033G>T (p.Gly345Ter)
c.3475G>T (p.Gly1159Ter)
c.1795G>T (p.Gly599Ter)
 ClinVar
Xg.108666502G>ACA413847611COL4A5c.3461G>A (p.Gly1154Glu)
c.3137G>A (p.Gly1046Glu)
c.1034G>A (p.Gly345Glu)
c.3476G>A (p.Gly1159Glu)
c.1796G>A (p.Gly599Glu)
 COSMIC
Xg.108666502G>CCA413847617COL4A5c.3461G>C (p.Gly1154Ala)
c.3137G>C (p.Gly1046Ala)
c.1034G>C (p.Gly345Ala)
c.3476G>C (p.Gly1159Ala)
c.1796G>C (p.Gly599Ala)
Xg.108666502G>TCA413847615COL4A5c.3461G>T (p.Gly1154Val)
c.3137G>T (p.Gly1046Val)
c.1034G>T (p.Gly345Val)
c.3476G>T (p.Gly1159Val)
c.1796G>T (p.Gly599Val)
Xg.108666503A>CCA517922315COL4A5c.3462A>C (p.Gly1154=)
c.3138A>C (p.Gly1046=)
c.1035A>C (p.Gly345=)
c.3477A>C (p.Gly1159=)
c.1797A>C (p.Gly599=)
Xg.108666503A>GCA517922316COL4A5c.3462A>G (p.Gly1154=)
c.3138A>G (p.Gly1046=)
c.1035A>G (p.Gly345=)
c.3477A>G (p.Gly1159=)
c.1797A>G (p.Gly599=)
Xg.108666503A>TCA517922317COL4A5c.3462A>T (p.Gly1154=)
c.3138A>T (p.Gly1046=)
c.1035A>T (p.Gly345=)
c.3477A>T (p.Gly1159=)
c.1797A>T (p.Gly599=)
Xg.108666504G>ACA413847620COL4A5c.3463G>A (p.Gly1155Ser)
c.3139G>A (p.Gly1047Ser)
c.1036G>A (p.Gly346Ser)
c.3478G>A (p.Gly1160Ser)
c.1798G>A (p.Gly600Ser)
Xg.108666504G>CCA413847627COL4A5c.3463G>C (p.Gly1155Arg)
c.3139G>C (p.Gly1047Arg)
c.1036G>C (p.Gly346Arg)
c.3478G>C (p.Gly1160Arg)
c.1798G>C (p.Gly600Arg)
Xg.108666504G>TCA413847624COL4A5c.3463G>T (p.Gly1155Cys)
c.3139G>T (p.Gly1047Cys)
c.1036G>T (p.Gly346Cys)
c.3478G>T (p.Gly1160Cys)
c.1798G>T (p.Gly600Cys)
 gnomAD v4
Xg.108666504_108666516delCA2695235646COL4A5c.3463_3475del (p.Gly1155AsnfsTer?)
c.3139_3151del (p.Gly1047AsnfsTer?)
c.1036_1048del (p.Gly346AsnfsTer?)
c.3478_3490del (p.Gly1160AsnfsTer?)
c.1798_1810del (p.Gly600AsnfsTer?)
Xg.108666505G>ACA413847631COL4A5c.3464G>A (p.Gly1155Asp)
c.3140G>A (p.Gly1047Asp)
c.1037G>A (p.Gly346Asp)
c.3479G>A (p.Gly1160Asp)
c.1799G>A (p.Gly600Asp)
Xg.108666505G>CCA413847635COL4A5c.3464G>C (p.Gly1155Ala)
c.3140G>C (p.Gly1047Ala)
c.1037G>C (p.Gly346Ala)
c.3479G>C (p.Gly1160Ala)
c.1799G>C (p.Gly600Ala)
Xg.108666505G>TCA413847638COL4A5c.3464G>T (p.Gly1155Val)
c.3140G>T (p.Gly1047Val)
c.1037G>T (p.Gly346Val)
c.3479G>T (p.Gly1160Val)
c.1799G>T (p.Gly600Val)
 gnomAD v4
Xg.108666506T>ACA517922318COL4A5c.3465T>A (p.Gly1155=)
c.3141T>A (p.Gly1047=)
c.1038T>A (p.Gly346=)
c.3480T>A (p.Gly1160=)
c.1800T>A (p.Gly600=)
 gnomAD v4
Xg.108666506T>CCA517922319COL4A5c.3465T>C (p.Gly1155=)
c.3141T>C (p.Gly1047=)
c.1038T>C (p.Gly346=)
c.3480T>C (p.Gly1160=)
c.1800T>C (p.Gly600=)
Xg.108666506T>GCA517922320COL4A5c.3465T>G (p.Gly1155=)
c.3141T>G (p.Gly1047=)
c.1038T>G (p.Gly346=)
c.3480T>G (p.Gly1160=)
c.1800T>G (p.Gly600=)
Xg.108666507C>ACA413847642COL4A5c.3466C>A (p.His1156Asn)
c.3142C>A (p.His1048Asn)
c.1039C>A (p.His347Asn)
c.3481C>A (p.His1161Asn)
c.1801C>A (p.His601Asn)
Xg.108666507C>GCA413847645COL4A5c.3466C>G (p.His1156Asp)
c.3142C>G (p.His1048Asp)
c.1039C>G (p.His347Asp)
c.3481C>G (p.His1161Asp)
c.1801C>G (p.His601Asp)
Xg.108666507C>TCA413847648COL4A5c.3466C>T (p.His1156Tyr)
c.3142C>T (p.His1048Tyr)
c.1039C>T (p.His347Tyr)
c.3481C>T (p.His1161Tyr)
c.1801C>T (p.His601Tyr)
Xg.108666508A>CCA413847652COL4A5c.3467A>C (p.His1156Pro)
c.3143A>C (p.His1048Pro)
c.1040A>C (p.His347Pro)
c.3482A>C (p.His1161Pro)
c.1802A>C (p.His601Pro)
Xg.108666508A>GCA413847654COL4A5c.3467A>G (p.His1156Arg)
c.3143A>G (p.His1048Arg)
c.1040A>G (p.His347Arg)
c.3482A>G (p.His1161Arg)
c.1802A>G (p.His601Arg)
Xg.108666508A>TCA413847656COL4A5c.3467A>T (p.His1156Leu)
c.3143A>T (p.His1048Leu)
c.1040A>T (p.His347Leu)
c.3482A>T (p.His1161Leu)
c.1802A>T (p.His601Leu)
Xg.108666509T>ACA413847658COL4A5c.3468T>A (p.His1156Gln)
c.3144T>A (p.His1048Gln)
c.1041T>A (p.His347Gln)
c.3483T>A (p.His1161Gln)
c.1803T>A (p.His601Gln)
Xg.108666509T>CCA10489121COL4A5c.3468T>C (p.His1156=)
c.3144T>C (p.His1048=)
c.1041T>C (p.His347=)
c.3483T>C (p.His1161=)
c.1803T>C (p.His601=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666509T>GCA413847661COL4A5c.3468T>G (p.His1156Gln)
c.3144T>G (p.His1048Gln)
c.1041T>G (p.His347Gln)
c.3483T>G (p.His1161Gln)
c.1803T>G (p.His601Gln)
Xg.108666509T=CA2450712314COL4A5c.3468T= (p.His1156=)
c.3144T= (p.His1048=)
c.1041T= (p.His347=)
c.3483T= (p.His1161=)
c.1803T= (p.His601=)
Xg.108666510C>ACA413847668COL4A5c.3469C>A (p.Pro1157Thr)
c.3145C>A (p.Pro1049Thr)
c.1042C>A (p.Pro348Thr)
c.3484C>A (p.Pro1162Thr)
c.1804C>A (p.Pro602Thr)
 gnomAD v4
Xg.108666510C=CA2450712315COL4A5c.3469C= (p.Pro1157=)
c.3145C= (p.Pro1049=)
c.1042C= (p.Pro348=)
c.3484C= (p.Pro1162=)
c.1804C= (p.Pro602=)
Xg.108666510C>GCA413847664COL4A5c.3469C>G (p.Pro1157Ala)
c.3145C>G (p.Pro1049Ala)
c.1042C>G (p.Pro348Ala)
c.3484C>G (p.Pro1162Ala)
c.1804C>G (p.Pro602Ala)
Xg.108666510C>TCA334045624COL4A5c.3469C>T (p.Pro1157Ser)
c.3145C>T (p.Pro1049Ser)
c.1042C>T (p.Pro348Ser)
c.3484C>T (p.Pro1162Ser)
c.1804C>T (p.Pro602Ser)
 dbSNP gnomAD v2
Xg.108666511C>ACA413847670COL4A5c.3470C>A (p.Pro1157His)
c.3146C>A (p.Pro1049His)
c.1043C>A (p.Pro348His)
c.3485C>A (p.Pro1162His)
c.1805C>A (p.Pro602His)
 gnomAD v4 COSMIC COSMIC
Xg.108666511C>GCA413847672COL4A5c.3470C>G (p.Pro1157Arg)
c.3146C>G (p.Pro1049Arg)
c.1043C>G (p.Pro348Arg)
c.3485C>G (p.Pro1162Arg)
c.1805C>G (p.Pro602Arg)
Xg.108666511C>TCA413847674COL4A5c.3470C>T (p.Pro1157Leu)
c.3146C>T (p.Pro1049Leu)
c.1043C>T (p.Pro348Leu)
c.3485C>T (p.Pro1162Leu)
c.1805C>T (p.Pro602Leu)
Xg.108666512T>ACA517922321COL4A5c.3471T>A (p.Pro1157=)
c.3147T>A (p.Pro1049=)
c.1044T>A (p.Pro348=)
c.3486T>A (p.Pro1162=)
c.1806T>A (p.Pro602=)
Xg.108666512T>CCA517922322COL4A5c.3471T>C (p.Pro1157=)
c.3147T>C (p.Pro1049=)
c.1044T>C (p.Pro348=)
c.3486T>C (p.Pro1162=)
c.1806T>C (p.Pro602=)

Number of alleles fetched