Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108666490T>GCA2694441416COL4A5c.3455-6T>G (n.3455-6T>G)
c.3131-6T>G (n.3131-6T>G)
c.1028-6T>G (n.1028-6T>G)
c.3470-6T>G (n.3470-6T>G)
c.1790-6T>G (n.1790-6T>G)
 gnomAD v4
Xg.108666491T>GCA1136188996COL4A5c.3455-5T>G (n.3455-5T>G)
c.3131-5T>G (n.3131-5T>G)
c.1028-5T>G (n.1028-5T>G)
c.3470-5T>G (n.3470-5T>G)
c.1790-5T>G (n.1790-5T>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108666491T=CA2450712307COL4A5c.3455-5T= (n.3455-5T=)
c.3131-5T= (n.3131-5T=)
c.1028-5T= (n.1028-5T=)
c.3470-5T= (n.3470-5T=)
c.1790-5T= (n.1790-5T=)
Xg.108666492T>GCA643636641COL4A5c.3455-4T>G (n.3455-4T>G)
c.3131-4T>G (n.3131-4T>G)
c.1028-4T>G (n.1028-4T>G)
c.3470-4T>G (n.3470-4T>G)
c.1790-4T>G (n.1790-4T>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666492T=CA2450712308COL4A5c.3455-4T= (n.3455-4T=)
c.3131-4T= (n.3131-4T=)
c.1028-4T= (n.1028-4T=)
c.3470-4T= (n.3470-4T=)
c.1790-4T= (n.1790-4T=)
Xg.108666493T=CA2450712309COL4A5c.3455-3T= (n.3455-3T=)
c.3131-3T= (n.3131-3T=)
c.1028-3T= (n.1028-3T=)
c.3470-3T= (n.3470-3T=)
c.1790-3T= (n.1790-3T=)
Xg.108666494A>CCA413847564COL4A5c.3455-2A>C (n.3455-2A>C)
c.3131-2A>C (n.3131-2A>C)
c.1028-2A>C (n.1028-2A>C)
c.3470-2A>C (n.3470-2A>C)
c.1790-2A>C (n.1790-2A>C)
Xg.108666494A>GCA413847559COL4A5c.3455-2A>G (n.3455-2A>G)
c.3131-2A>G (n.3131-2A>G)
c.1028-2A>G (n.1028-2A>G)
c.3470-2A>G (n.3470-2A>G)
c.1790-2A>G (n.1790-2A>G)
 gnomAD v4
Xg.108666494A>TCA413847562COL4A5c.3455-2A>T (n.3455-2A>T)
c.3131-2A>T (n.3131-2A>T)
c.1028-2A>T (n.1028-2A>T)
c.3470-2A>T (n.3470-2A>T)
c.1790-2A>T (n.1790-2A>T)
 gnomAD v4
Xg.108666494dupCA2450712310COL4A5c.3455-2dup (n.3455-2dup)
c.3131-2dup (n.3131-2dup)
c.1028-2dup (n.1028-2dup)
c.3470-2dup (n.3470-2dup)
c.1790-2dup (n.1790-2dup)
 dbSNP
Xg.108666495G>ACA413847567COL4A5c.3455-1G>A (n.3455-1G>A)
c.3131-1G>A (n.3131-1G>A)
c.1028-1G>A (n.1028-1G>A)
c.3470-1G>A (n.3470-1G>A)
c.1790-1G>A (n.1790-1G>A)
 gnomAD v4
Xg.108666495G>CCA413847570COL4A5c.3455-1G>C (n.3455-1G>C)
c.3131-1G>C (n.3131-1G>C)
c.1028-1G>C (n.1028-1G>C)
c.3470-1G>C (n.3470-1G>C)
c.1790-1G>C (n.1790-1G>C)
Xg.108666495G>TCA413847572COL4A5c.3455-1G>T (n.3455-1G>T)
c.3131-1G>T (n.3131-1G>T)
c.1028-1G>T (n.1028-1G>T)
c.3470-1G>T (n.3470-1G>T)
c.1790-1G>T (n.1790-1G>T)
Xg.108666496G>ACA413847576COL4A5c.3455G>A (p.Gly1152Asp)
c.3131G>A (p.Gly1044Asp)
c.1028G>A (p.Gly343Asp)
c.3470G>A (p.Gly1157Asp)
c.1790G>A (p.Gly597Asp)
 gnomAD v4
Xg.108666496G>CCA413847579COL4A5c.3455G>C (p.Gly1152Ala)
c.3131G>C (p.Gly1044Ala)
c.1028G>C (p.Gly343Ala)
c.3470G>C (p.Gly1157Ala)
c.1790G>C (p.Gly597Ala)
Xg.108666496G>TCA413847582COL4A5c.3455G>T (p.Gly1152Val)
c.3131G>T (p.Gly1044Val)
c.1028G>T (p.Gly343Val)
c.3470G>T (p.Gly1157Val)
c.1790G>T (p.Gly597Val)
Xg.108666497T>ACA517922309COL4A5c.3456T>A (p.Gly1152=)
c.3132T>A (p.Gly1044=)
c.1029T>A (p.Gly343=)
c.3471T>A (p.Gly1157=)
c.1791T>A (p.Gly597=)
Xg.108666497T>CCA517922310COL4A5c.3456T>C (p.Gly1152=)
c.3132T>C (p.Gly1044=)
c.1029T>C (p.Gly343=)
c.3471T>C (p.Gly1157=)
c.1791T>C (p.Gly597=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666497T>GCA517922311COL4A5c.3456T>G (p.Gly1152=)
c.3132T>G (p.Gly1044=)
c.1029T>G (p.Gly343=)
c.3471T>G (p.Gly1157=)
c.1791T>G (p.Gly597=)
Xg.108666497T=CA2450712311COL4A5c.3456T= (p.Gly1152=)
c.3132T= (p.Gly1044=)
c.1029T= (p.Gly343=)
c.3471T= (p.Gly1157=)
c.1791T= (p.Gly597=)
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=)
Xg.108666512T>GCA517922323COL4A5c.3471T>G (p.Pro1157=)
c.3147T>G (p.Pro1049=)
c.1044T>G (p.Pro348=)
c.3486T>G (p.Pro1162=)
c.1806T>G (p.Pro602=)
Xg.108666512_108666513delinsTGCA2450712316COL4A5c.3471_3472delinsTG (p.Pro1157=)
c.3147_3148delinsTG (p.Pro1049=)
c.1044_1045delinsTG (p.Pro348=)
c.3486_3487delinsTG (p.Pro1162=)
c.1806_1807delinsTG (p.Pro602=)
Xg.108666513G>ACA413847677COL4A5c.3472G>A (p.Gly1158Arg)
c.3148G>A (p.Gly1050Arg)
c.1045G>A (p.Gly349Arg)
c.3487G>A (p.Gly1163Arg)
c.1807G>A (p.Gly603Arg)
Xg.108666513G>CCA413847679COL4A5c.3472G>C (p.Gly1158Arg)
c.3148G>C (p.Gly1050Arg)
c.1045G>C (p.Gly349Arg)
c.3487G>C (p.Gly1163Arg)
c.1807G>C (p.Gly603Arg)
Xg.108666513G=CA2450712317COL4A5c.3472G= (p.Gly1158=)
c.3148G= (p.Gly1050=)
c.1045G= (p.Gly349=)
c.3487G= (p.Gly1163=)
c.1807G= (p.Gly603=)
Xg.108666513G>TCA258869COL4A5c.3472G>T (p.Gly1158Trp)
c.3148G>T (p.Gly1050Trp)
c.1045G>T (p.Gly349Trp)
c.3487G>T (p.Gly1163Trp)
c.1807G>T (p.Gly603Trp)
 dbSNP gnomAD v4
Xg.108666515delCA258873COL4A5c.3474del (p.Gln1159AsnfsTer?)
c.3150del (p.Gln1051AsnfsTer?)
c.1047del (p.Gln350AsnfsTer?)
c.3489del (p.Gln1164AsnfsTer?)
c.1809del (p.Gln604AsnfsTer?)
 dbSNP
Xg.108666514G>ACA413847683COL4A5c.3473G>A (p.Gly1158Glu)
c.3149G>A (p.Gly1050Glu)
c.1046G>A (p.Gly349Glu)
c.3488G>A (p.Gly1163Glu)
c.1808G>A (p.Gly603Glu)
 ClinVar dbSNP gnomAD v4
Xg.108666514G>CCA413847685COL4A5c.3473G>C (p.Gly1158Ala)
c.3149G>C (p.Gly1050Ala)
c.1046G>C (p.Gly349Ala)
c.3488G>C (p.Gly1163Ala)
c.1808G>C (p.Gly603Ala)
Xg.108666514G=CA2450712318COL4A5c.3473G= (p.Gly1158=)
c.3149G= (p.Gly1050=)
c.1046G= (p.Gly349=)
c.3488G= (p.Gly1163=)
c.1808G= (p.Gly603=)
Xg.108666514G>TCA413847687COL4A5c.3473G>T (p.Gly1158Val)
c.3149G>T (p.Gly1050Val)
c.1046G>T (p.Gly349Val)
c.3488G>T (p.Gly1163Val)
c.1808G>T (p.Gly603Val)
 gnomAD v4
Xg.108666514_108666515insTCA517922324COL4A5c.3473_3474insT (p.Gln1159AlafsTer25)
c.3149_3150insT (p.Gln1051AlafsTer25)
c.1046_1047insT (p.Gln350AlafsTer25)
c.3488_3489insT (p.Gln1164AlafsTer25)
c.1808_1809insT (p.Gln604AlafsTer25)
Xg.108666515G>ACA517922325COL4A5c.3474G>A (p.Gly1158=)
c.3150G>A (p.Gly1050=)
c.1047G>A (p.Gly349=)
c.3489G>A (p.Gly1163=)
c.1809G>A (p.Gly603=)
 gnomAD v4 COSMIC COSMIC
Xg.108666515G>CCA517922326COL4A5c.3474G>C (p.Gly1158=)
c.3150G>C (p.Gly1050=)
c.1047G>C (p.Gly349=)
c.3489G>C (p.Gly1163=)
c.1809G>C (p.Gly603=)
Xg.108666515G>TCA517922327COL4A5c.3474G>T (p.Gly1158=)
c.3150G>T (p.Gly1050=)
c.1047G>T (p.Gly349=)
c.3489G>T (p.Gly1163=)
c.1809G>T (p.Gly603=)
Xg.108666516C>ACA413847694COL4A5c.3475C>A (p.Gln1159Lys)
c.3151C>A (p.Gln1051Lys)
c.1048C>A (p.Gln350Lys)
c.3490C>A (p.Gln1164Lys)
c.1810C>A (p.Gln604Lys)
Xg.108666516C=CA2450712319COL4A5c.3475C= (p.Gln1159=)
c.3151C= (p.Gln1051=)
c.1048C= (p.Gln350=)
c.3490C= (p.Gln1164=)
c.1810C= (p.Gln604=)
Xg.108666516C>GCA413847692COL4A5c.3475C>G (p.Gln1159Glu)
c.3151C>G (p.Gln1051Glu)
c.1048C>G (p.Gln350Glu)
c.3490C>G (p.Gln1164Glu)
c.1810C>G (p.Gln604Glu)
Xg.108666516C>TCA413847690COL4A5c.3475C>T (p.Gln1159Ter)
c.3151C>T (p.Gln1051Ter)
c.1048C>T (p.Gln350Ter)
c.3490C>T (p.Gln1164Ter)
c.1810C>T (p.Gln604Ter)
 ClinVar dbSNP
Xg.108666517A=CA2450712320COL4A5c.3476A= (p.Gln1159=)
c.3152A= (p.Gln1051=)
c.1049A= (p.Gln350=)
c.3491A= (p.Gln1164=)
c.1811A= (p.Gln604=)
Xg.108666517A>CCA413847696COL4A5c.3476A>C (p.Gln1159Pro)
c.3152A>C (p.Gln1051Pro)
c.1049A>C (p.Gln350Pro)
c.3491A>C (p.Gln1164Pro)
c.1811A>C (p.Gln604Pro)
Xg.108666517A>GCA413847698COL4A5c.3476A>G (p.Gln1159Arg)
c.3152A>G (p.Gln1051Arg)
c.1049A>G (p.Gln350Arg)
c.3491A>G (p.Gln1164Arg)
c.1811A>G (p.Gln604Arg)
 dbSNP gnomAD v4
Xg.108666517A>TCA413847699COL4A5c.3476A>T (p.Gln1159Leu)
c.3152A>T (p.Gln1051Leu)
c.1049A>T (p.Gln350Leu)
c.3491A>T (p.Gln1164Leu)
c.1811A>T (p.Gln604Leu)
Xg.108666517_108666518delCA517922328COL4A5c.3476_3477del (p.Gln1159ProfsTer24)
c.3152_3153del (p.Gln1051ProfsTer24)
c.1049_1050del (p.Gln350ProfsTer24)
c.3491_3492del (p.Gln1164ProfsTer24)
c.1811_1812del (p.Gln604ProfsTer24)
Xg.108666518A>CCA413847701COL4A5c.3477A>C (p.Gln1159His)
c.3153A>C (p.Gln1051His)
c.1050A>C (p.Gln350His)
c.3492A>C (p.Gln1164His)
c.1812A>C (p.Gln604His)
Xg.108666518A>GCA517922329COL4A5c.3477A>G (p.Gln1159=)
c.3153A>G (p.Gln1051=)
c.1050A>G (p.Gln350=)
c.3492A>G (p.Gln1164=)
c.1812A>G (p.Gln604=)
Xg.108666518A>TCA413847703COL4A5c.3477A>T (p.Gln1159His)
c.3153A>T (p.Gln1051His)
c.1050A>T (p.Gln350His)
c.3492A>T (p.Gln1164His)
c.1812A>T (p.Gln604His)
Xg.108666519C>ACA413847705COL4A5c.3478C>A (p.Pro1160Thr)
c.3154C>A (p.Pro1052Thr)
c.1051C>A (p.Pro351Thr)
c.3493C>A (p.Pro1165Thr)
c.1813C>A (p.Pro605Thr)
Xg.108666519C=CA2450712321COL4A5c.3478C= (p.Pro1160=)
c.3154C= (p.Pro1052=)
c.1051C= (p.Pro351=)
c.3493C= (p.Pro1165=)
c.1813C= (p.Pro605=)
Xg.108666519C>GCA413847707COL4A5c.3478C>G (p.Pro1160Ala)
c.3154C>G (p.Pro1052Ala)
c.1051C>G (p.Pro351Ala)
c.3493C>G (p.Pro1165Ala)
c.1813C>G (p.Pro605Ala)
Xg.108666519C>TCA413847709COL4A5c.3478C>T (p.Pro1160Ser)
c.3154C>T (p.Pro1052Ser)
c.1051C>T (p.Pro351Ser)
c.3493C>T (p.Pro1165Ser)
c.1813C>T (p.Pro605Ser)
 dbSNP
Xg.108666519_108666520insGCA517922330COL4A5c.3478_3479insG (p.Pro1160ArgfsTer24)
c.3154_3155insG (p.Pro1052ArgfsTer24)
c.1051_1052insG (p.Pro351ArgfsTer24)
c.3493_3494insG (p.Pro1165ArgfsTer24)
c.1813_1814insG (p.Pro605ArgfsTer24)
Xg.108666520C>ACA413847712COL4A5c.3479C>A (p.Pro1160Gln)
c.3155C>A (p.Pro1052Gln)
c.1052C>A (p.Pro351Gln)
c.3494C>A (p.Pro1165Gln)
c.1814C>A (p.Pro605Gln)
Xg.108666520C=CA2450712322COL4A5c.3479C= (p.Pro1160=)
c.3155C= (p.Pro1052=)
c.1052C= (p.Pro351=)
c.3494C= (p.Pro1165=)
c.1814C= (p.Pro605=)
Xg.108666520C>GCA413847714COL4A5c.3479C>G (p.Pro1160Arg)
c.3155C>G (p.Pro1052Arg)
c.1052C>G (p.Pro351Arg)
c.3494C>G (p.Pro1165Arg)
c.1814C>G (p.Pro605Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666520C>TCA413847715COL4A5c.3479C>T (p.Pro1160Leu)
c.3155C>T (p.Pro1052Leu)
c.1052C>T (p.Pro351Leu)
c.3494C>T (p.Pro1165Leu)
c.1814C>T (p.Pro605Leu)
Xg.108666521A>CCA517922331COL4A5c.3480A>C (p.Pro1160=)
c.3156A>C (p.Pro1052=)
c.1053A>C (p.Pro351=)
c.3495A>C (p.Pro1165=)
c.1815A>C (p.Pro605=)
Xg.108666521A>GCA517922332COL4A5c.3480A>G (p.Pro1160=)
c.3156A>G (p.Pro1052=)
c.1053A>G (p.Pro351=)
c.3495A>G (p.Pro1165=)
c.1815A>G (p.Pro605=)
Xg.108666521A>TCA517922333COL4A5c.3480A>T (p.Pro1160=)
c.3156A>T (p.Pro1052=)
c.1053A>T (p.Pro351=)
c.3495A>T (p.Pro1165=)
c.1815A>T (p.Pro605=)
Xg.108666522G>ACA258874COL4A5c.3481G>A (p.Gly1161Arg)
c.3157G>A (p.Gly1053Arg)
c.1054G>A (p.Gly352Arg)
c.3496G>A (p.Gly1166Arg)
c.1816G>A (p.Gly606Arg)
 ClinVar dbSNP gnomAD v4
Xg.108666522G>CCA413847717COL4A5c.3481G>C (p.Gly1161Arg)
c.3157G>C (p.Gly1053Arg)
c.1054G>C (p.Gly352Arg)
c.3496G>C (p.Gly1166Arg)
c.1816G>C (p.Gly606Arg)
 ClinVar dbSNP
Xg.108666522G=CA2450712323COL4A5c.3481G= (p.Gly1161=)
c.3157G= (p.Gly1053=)
c.1054G= (p.Gly352=)
c.3496G= (p.Gly1166=)
c.1816G= (p.Gly606=)
Xg.108666522G>TCA413847716COL4A5c.3481G>T (p.Gly1161Trp)
c.3157G>T (p.Gly1053Trp)
c.1054G>T (p.Gly352Trp)
c.3496G>T (p.Gly1166Trp)
c.1816G>T (p.Gly606Trp)
 gnomAD v4
Xg.108666523G>ACA413847718COL4A5c.3482G>A (p.Gly1161Glu)
c.3158G>A (p.Gly1053Glu)
c.1055G>A (p.Gly352Glu)
c.3497G>A (p.Gly1166Glu)
c.1817G>A (p.Gly606Glu)
 ClinVar dbSNP
Xg.108666523G>CCA413847719COL4A5c.3482G>C (p.Gly1161Ala)
c.3158G>C (p.Gly1053Ala)
c.1055G>C (p.Gly352Ala)
c.3497G>C (p.Gly1166Ala)
c.1817G>C (p.Gly606Ala)
Xg.108666523G=CA2450712324COL4A5c.3482G= (p.Gly1161=)
c.3158G= (p.Gly1053=)
c.1055G= (p.Gly352=)
c.3497G= (p.Gly1166=)
c.1817G= (p.Gly606=)
Xg.108666523G>TCA413847720COL4A5c.3482G>T (p.Gly1161Val)
c.3158G>T (p.Gly1053Val)
c.1055G>T (p.Gly352Val)
c.3497G>T (p.Gly1166Val)
c.1817G>T (p.Gly606Val)
 gnomAD v4
Xg.108666524G>ACA517922334COL4A5c.3483G>A (p.Gly1161=)
c.3159G>A (p.Gly1053=)
c.1056G>A (p.Gly352=)
c.3498G>A (p.Gly1166=)
c.1818G>A (p.Gly606=)
 gnomAD v4
Xg.108666524G>CCA517922335COL4A5c.3483G>C (p.Gly1161=)
c.3159G>C (p.Gly1053=)
c.1056G>C (p.Gly352=)
c.3498G>C (p.Gly1166=)
c.1818G>C (p.Gly606=)
Xg.108666524G>TCA517922336COL4A5c.3483G>T (p.Gly1161=)
c.3159G>T (p.Gly1053=)
c.1056G>T (p.Gly352=)
c.3498G>T (p.Gly1166=)
c.1818G>T (p.Gly606=)
Xg.108666524_108666525insTTCA517922337COL4A5c.3483_3484insTT (p.Pro1162PhefsTer?)
c.3159_3160insTT (p.Pro1054PhefsTer?)
c.1056_1057insTT (p.Pro353PhefsTer?)
c.3498_3499insTT (p.Pro1167PhefsTer?)
c.1818_1819insTT (p.Pro607PhefsTer?)
Xg.108666525C>ACA413847721COL4A5c.3484C>A (p.Pro1162Thr)
c.3160C>A (p.Pro1054Thr)
c.1057C>A (p.Pro353Thr)
c.3499C>A (p.Pro1167Thr)
c.1819C>A (p.Pro607Thr)
 gnomAD v4
Xg.108666525C>GCA413847722COL4A5c.3484C>G (p.Pro1162Ala)
c.3160C>G (p.Pro1054Ala)
c.1057C>G (p.Pro353Ala)
c.3499C>G (p.Pro1167Ala)
c.1819C>G (p.Pro607Ala)
Xg.108666525C>TCA413847723COL4A5c.3484C>T (p.Pro1162Ser)
c.3160C>T (p.Pro1054Ser)
c.1057C>T (p.Pro353Ser)
c.3499C>T (p.Pro1167Ser)
c.1819C>T (p.Pro607Ser)
Xg.108666525_108666526insTGCA517922338COL4A5c.3484_3485insTG (p.Pro1162LeufsTer?)
c.3160_3161insTG (p.Pro1054LeufsTer?)
c.1057_1058insTG (p.Pro353LeufsTer?)
c.3499_3500insTG (p.Pro1167LeufsTer?)
c.1819_1820insTG (p.Pro607LeufsTer?)
Xg.108666526C>ACA413847724COL4A5c.3485C>A (p.Pro1162His)
c.3161C>A (p.Pro1054His)
c.1058C>A (p.Pro353His)
c.3500C>A (p.Pro1167His)
c.1820C>A (p.Pro607His)
 gnomAD v4
Xg.108666526C>GCA413847725COL4A5c.3485C>G (p.Pro1162Arg)
c.3161C>G (p.Pro1054Arg)
c.1058C>G (p.Pro353Arg)
c.3500C>G (p.Pro1167Arg)
c.1820C>G (p.Pro607Arg)
Xg.108666526C>TCA413847726COL4A5c.3485C>T (p.Pro1162Leu)
c.3161C>T (p.Pro1054Leu)
c.1058C>T (p.Pro353Leu)
c.3500C>T (p.Pro1167Leu)
c.1820C>T (p.Pro607Leu)
Xg.108666527T>ACA517922339COL4A5c.3486T>A (p.Pro1162=)
c.3162T>A (p.Pro1054=)
c.1059T>A (p.Pro353=)
c.3501T>A (p.Pro1167=)
c.1821T>A (p.Pro607=)
Xg.108666527T>CCA517922340COL4A5c.3486T>C (p.Pro1162=)
c.3162T>C (p.Pro1054=)
c.1059T>C (p.Pro353=)
c.3501T>C (p.Pro1167=)
c.1821T>C (p.Pro607=)
 gnomAD v4
Xg.108666527T>GCA517922341COL4A5c.3486T>G (p.Pro1162=)
c.3162T>G (p.Pro1054=)
c.1059T>G (p.Pro353=)
c.3501T>G (p.Pro1167=)
c.1821T>G (p.Pro607=)
Xg.108666527_108666529delinsTCCCA2450712325COL4A5c.3486_3488delinsTCC (p.Pro1162=)
c.3162_3164delinsTCC (p.Pro1054=)
c.1059_1061delinsTCC (p.Pro353=)
c.3501_3503delinsTCC (p.Pro1167=)
c.1821_1823delinsTCC (p.Pro607=)
Xg.108666528C>ACA413847727COL4A5c.3487C>A (p.Pro1163Thr)
c.3163C>A (p.Pro1055Thr)
c.1060C>A (p.Pro354Thr)
c.3502C>A (p.Pro1168Thr)
c.1822C>A (p.Pro608Thr)
Xg.108666528C>GCA413847728COL4A5c.3487C>G (p.Pro1163Ala)
c.3163C>G (p.Pro1055Ala)
c.1060C>G (p.Pro354Ala)
c.3502C>G (p.Pro1168Ala)
c.1822C>G (p.Pro608Ala)
Xg.108666528C>TCA413847729COL4A5c.3487C>T (p.Pro1163Ser)
c.3163C>T (p.Pro1055Ser)
c.1060C>T (p.Pro354Ser)
c.3502C>T (p.Pro1168Ser)
c.1822C>T (p.Pro608Ser)
Xg.108666528_108666529delCA2508957337COL4A5c.3487_3488del (p.Pro1163ArgfsTer20)
c.3163_3164del (p.Pro1055ArgfsTer20)
c.1060_1061del (p.Pro354ArgfsTer20)
c.3502_3503del (p.Pro1168ArgfsTer20)
c.1822_1823del (p.Pro608ArgfsTer20)
Xg.108666528_108666529delinsGCA10654931COL4A5c.3487_3488delinsG (p.Pro1163GlufsTer?)
c.3163_3164delinsG (p.Pro1055GlufsTer?)
c.1060_1061delinsG (p.Pro354GlufsTer?)
c.3502_3503delinsG (p.Pro1168GlufsTer?)
c.1822_1823delinsG (p.Pro608GlufsTer?)
 ClinVar dbSNP
Xg.108666529delCA2580100161COL4A5c.3488del (p.Pro1163GlnfsTer?)
c.3164del (p.Pro1055GlnfsTer?)
c.1061del (p.Pro354GlnfsTer?)
c.3503del (p.Pro1168GlnfsTer?)
c.1823del (p.Pro608GlnfsTer?)
 ClinVar
Xg.108666528_108666529insAACA517922342COL4A5c.3487_3488insAA (p.Pro1163GlnfsTer?)
c.3163_3164insAA (p.Pro1055GlnfsTer?)
c.1060_1061insAA (p.Pro354GlnfsTer?)
c.3502_3503insAA (p.Pro1168GlnfsTer?)
c.1822_1823insAA (p.Pro608GlnfsTer?)
Xg.108666529C>ACA413847731COL4A5c.3488C>A (p.Pro1163Gln)
c.3164C>A (p.Pro1055Gln)
c.1061C>A (p.Pro354Gln)
c.3503C>A (p.Pro1168Gln)
c.1823C>A (p.Pro608Gln)
 gnomAD v4
Xg.108666529C=CA2450712326COL4A5c.3488C= (p.Pro1163=)
c.3164C= (p.Pro1055=)
c.1061C= (p.Pro354=)
c.3503C= (p.Pro1168=)
c.1823C= (p.Pro608=)
Xg.108666529C>GCA413847730COL4A5c.3488C>G (p.Pro1163Arg)
c.3164C>G (p.Pro1055Arg)
c.1061C>G (p.Pro354Arg)
c.3503C>G (p.Pro1168Arg)
c.1823C>G (p.Pro608Arg)
Xg.108666529C>TCA10489122COL4A5c.3488C>T (p.Pro1163Leu)
c.3164C>T (p.Pro1055Leu)
c.1061C>T (p.Pro354Leu)
c.3503C>T (p.Pro1168Leu)
c.1823C>T (p.Pro608Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666530A>CCA517922343COL4A5c.3489A>C (p.Pro1163=)
c.3165A>C (p.Pro1055=)
c.1062A>C (p.Pro354=)
c.3504A>C (p.Pro1168=)
c.1824A>C (p.Pro608=)
Xg.108666530A>GCA517922344COL4A5c.3489A>G (p.Pro1163=)
c.3165A>G (p.Pro1055=)
c.1062A>G (p.Pro354=)
c.3504A>G (p.Pro1168=)
c.1824A>G (p.Pro608=)
Xg.108666530A>TCA517922345COL4A5c.3489A>T (p.Pro1163=)
c.3165A>T (p.Pro1055=)
c.1062A>T (p.Pro354=)
c.3504A>T (p.Pro1168=)
c.1824A>T (p.Pro608=)
Xg.108666531G>ACA413847733COL4A5c.3490G>A (p.Gly1164Ser)
c.3166G>A (p.Gly1056Ser)
c.1063G>A (p.Gly355Ser)
c.3505G>A (p.Gly1169Ser)
c.1825G>A (p.Gly609Ser)
 gnomAD v4
Xg.108666531G>CCA413847732COL4A5c.3490G>C (p.Gly1164Arg)
c.3166G>C (p.Gly1056Arg)
c.1063G>C (p.Gly355Arg)
c.3505G>C (p.Gly1169Arg)
c.1825G>C (p.Gly609Arg)
Xg.108666531G=CA2450712327COL4A5c.3490G= (p.Gly1164=)
c.3166G= (p.Gly1056=)
c.1063G= (p.Gly355=)
c.3505G= (p.Gly1169=)
c.1825G= (p.Gly609=)
Xg.108666531G>TCA16043193COL4A5c.3490G>T (p.Gly1164Cys)
c.3166G>T (p.Gly1056Cys)
c.1063G>T (p.Gly355Cys)
c.3505G>T (p.Gly1169Cys)
c.1825G>T (p.Gly609Cys)
 ClinVar dbSNP
Xg.108666532_108666534delCA517922346COL4A5c.3491_3493del (p.Gly1164del)
c.3167_3169del (p.Gly1056del)
c.1064_1066del (p.Gly355del)
c.3506_3508del (p.Gly1169del)
c.1826_1828del (p.Gly609del)
Xg.108666532G>ACA413847734COL4A5c.3491G>A (p.Gly1164Asp)
c.3167G>A (p.Gly1056Asp)
c.1064G>A (p.Gly355Asp)
c.3506G>A (p.Gly1169Asp)
c.1826G>A (p.Gly609Asp)
 ClinVar dbSNP
Xg.108666532G>CCA413847735COL4A5c.3491G>C (p.Gly1164Ala)
c.3167G>C (p.Gly1056Ala)
c.1064G>C (p.Gly355Ala)
c.3506G>C (p.Gly1169Ala)
c.1826G>C (p.Gly609Ala)
Xg.108666532G>TCA413847736COL4A5c.3491G>T (p.Gly1164Val)
c.3167G>T (p.Gly1056Val)
c.1064G>T (p.Gly355Val)
c.3506G>T (p.Gly1169Val)
c.1826G>T (p.Gly609Val)
Xg.108666533C>ACA517922347COL4A5c.3492C>A (p.Gly1164=)
c.3168C>A (p.Gly1056=)
c.1065C>A (p.Gly355=)
c.3507C>A (p.Gly1169=)
c.1827C>A (p.Gly609=)
 ClinVar dbSNP gnomAD v4
Xg.108666533C=CA2450712328COL4A5c.3492C= (p.Gly1164=)
c.3168C= (p.Gly1056=)
c.1065C= (p.Gly355=)
c.3507C= (p.Gly1169=)
c.1827C= (p.Gly609=)
Xg.108666533C>GCA517922348COL4A5c.3492C>G (p.Gly1164=)
c.3168C>G (p.Gly1056=)
c.1065C>G (p.Gly355=)
c.3507C>G (p.Gly1169=)
c.1827C>G (p.Gly609=)
Xg.108666533C>TCA334045709COL4A5c.3492C>T (p.Gly1164=)
c.3168C>T (p.Gly1056=)
c.1065C>T (p.Gly355=)
c.3507C>T (p.Gly1169=)
c.1827C>T (p.Gly609=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666534G>ACA10489123COL4A5c.3493G>A (p.Glu1165Lys)
c.3169G>A (p.Glu1057Lys)
c.1066G>A (p.Glu356Lys)
c.3508G>A (p.Glu1170Lys)
c.1828G>A (p.Glu610Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108666534G>CCA413847737COL4A5c.3493G>C (p.Glu1165Gln)
c.3169G>C (p.Glu1057Gln)
c.1066G>C (p.Glu356Gln)
c.3508G>C (p.Glu1170Gln)
c.1828G>C (p.Glu610Gln)
Xg.108666534G=CA2450712329COL4A5c.3493G= (p.Glu1165=)
c.3169G= (p.Glu1057=)
c.1066G= (p.Glu356=)
c.3508G= (p.Glu1170=)
c.1828G= (p.Glu610=)
Xg.108666534G>TCA413847738COL4A5c.3493G>T (p.Glu1165Ter)
c.3169G>T (p.Glu1057Ter)
c.1066G>T (p.Glu356Ter)
c.3508G>T (p.Glu1170Ter)
c.1828G>T (p.Glu610Ter)
Xg.108666535A>CCA413847739COL4A5c.3494A>C (p.Glu1165Ala)
c.3170A>C (p.Glu1057Ala)
c.1067A>C (p.Glu356Ala)
c.3509A>C (p.Glu1170Ala)
c.1829A>C (p.Glu610Ala)
Xg.108666535A>GCA413847740COL4A5c.3494A>G (p.Glu1165Gly)
c.3170A>G (p.Glu1057Gly)
c.1067A>G (p.Glu356Gly)
c.3509A>G (p.Glu1170Gly)
c.1829A>G (p.Glu610Gly)
 gnomAD v4
Xg.108666535A>TCA413847741COL4A5c.3494A>T (p.Glu1165Val)
c.3170A>T (p.Glu1057Val)
c.1067A>T (p.Glu356Val)
c.3509A>T (p.Glu1170Val)
c.1829A>T (p.Glu610Val)
Xg.108666539delCA643636642COL4A5c.3498del (p.Gly1167AlafsTer?)
c.3174del (p.Gly1059AlafsTer?)
c.1071del (p.Gly358AlafsTer?)
c.3513del (p.Gly1172AlafsTer?)
c.1833del (p.Gly612AlafsTer?)
 gnomAD v2 gnomAD v4
Xg.108666536A>CCA413847742COL4A5c.3495A>C (p.Glu1165Asp)
c.3171A>C (p.Glu1057Asp)
c.1068A>C (p.Glu356Asp)
c.3510A>C (p.Glu1170Asp)
c.1830A>C (p.Glu610Asp)
Xg.108666536A>GCA517922349COL4A5c.3495A>G (p.Glu1165=)
c.3171A>G (p.Glu1057=)
c.1068A>G (p.Glu356=)
c.3510A>G (p.Glu1170=)
c.1830A>G (p.Glu610=)
Xg.108666536A>TCA413847743COL4A5c.3495A>T (p.Glu1165Asp)
c.3171A>T (p.Glu1057Asp)
c.1068A>T (p.Glu356Asp)
c.3510A>T (p.Glu1170Asp)
c.1830A>T (p.Glu610Asp)
 COSMIC COSMIC
Xg.108666537A=CA2450712330COL4A5c.3496A= (p.Lys1166=)
c.3172A= (p.Lys1058=)
c.1069A= (p.Lys357=)
c.3511A= (p.Lys1171=)
c.1831A= (p.Lys611=)
Xg.108666537A>CCA413847745COL4A5c.3496A>C (p.Lys1166Gln)
c.3172A>C (p.Lys1058Gln)
c.1069A>C (p.Lys357Gln)
c.3511A>C (p.Lys1171Gln)
c.1831A>C (p.Lys611Gln)
Xg.108666537A>GCA16621173COL4A5c.3496A>G (p.Lys1166Glu)
c.3172A>G (p.Lys1058Glu)
c.1069A>G (p.Lys357Glu)
c.3511A>G (p.Lys1171Glu)
c.1831A>G (p.Lys611Glu)
 ClinVar dbSNP gnomAD v4
Xg.108666537A>TCA413847744COL4A5c.3496A>T (p.Lys1166Ter)
c.3172A>T (p.Lys1058Ter)
c.1069A>T (p.Lys357Ter)
c.3511A>T (p.Lys1171Ter)
c.1831A>T (p.Lys611Ter)
Xg.108666540_108666545delCA2580100167COL4A5c.3499_3504del (p.Gly1167_Lys1168del)
c.3175_3180del (p.Gly1059_Lys1060del)
c.1072_1077del (p.Gly358_Lys359del)
c.3514_3519del (p.Gly1172_Lys1173del)
c.1834_1839del (p.Gly612_Lys613del)
 ClinVar
Xg.108666538A>CCA413847746COL4A5c.3497A>C (p.Lys1166Thr)
c.3173A>C (p.Lys1058Thr)
c.1070A>C (p.Lys357Thr)
c.3512A>C (p.Lys1171Thr)
c.1832A>C (p.Lys611Thr)
Xg.108666538A>GCA413847747COL4A5c.3497A>G (p.Lys1166Arg)
c.3173A>G (p.Lys1058Arg)
c.1070A>G (p.Lys357Arg)
c.3512A>G (p.Lys1171Arg)
c.1832A>G (p.Lys611Arg)
 gnomAD v4
Xg.108666538A>TCA413847748COL4A5c.3497A>T (p.Lys1166Ile)
c.3173A>T (p.Lys1058Ile)
c.1070A>T (p.Lys357Ile)
c.3512A>T (p.Lys1171Ile)
c.1832A>T (p.Lys611Ile)
Xg.108666538_108666539insTATCTCA517922354COL4A5c.3497_3498insTATCT (p.Lys1166AsnfsTer3)
c.3173_3174insTATCT (p.Lys1058AsnfsTer3)
c.1070_1071insTATCT (p.Lys357AsnfsTer3)
c.3512_3513insTATCT (p.Lys1171AsnfsTer3)
c.1832_1833insTATCT (p.Lys611AsnfsTer3)
Xg.108666539A=CA2450712331COL4A5c.3498A= (p.Lys1166=)
c.3174A= (p.Lys1058=)
c.1071A= (p.Lys357=)
c.3513A= (p.Lys1171=)
c.1833A= (p.Lys611=)
Xg.108666539A>CCA413847749COL4A5c.3498A>C (p.Lys1166Asn)
c.3174A>C (p.Lys1058Asn)
c.1071A>C (p.Lys357Asn)
c.3513A>C (p.Lys1171Asn)
c.1833A>C (p.Lys611Asn)
 gnomAD v4
Xg.108666539A>GCA517922353COL4A5c.3498A>G (p.Lys1166=)
c.3174A>G (p.Lys1058=)
c.1071A>G (p.Lys357=)
c.3513A>G (p.Lys1171=)
c.1833A>G (p.Lys611=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108666539A>TCA413847750COL4A5c.3498A>T (p.Lys1166Asn)
c.3174A>T (p.Lys1058Asn)
c.1071A>T (p.Lys357Asn)
c.3513A>T (p.Lys1171Asn)
c.1833A>T (p.Lys611Asn)
 gnomAD v4
Xg.108666540G>ACA258876COL4A5c.3499G>A (p.Gly1167Ser)
c.3175G>A (p.Gly1059Ser)
c.1072G>A (p.Gly358Ser)
c.3514G>A (p.Gly1172Ser)
c.1834G>A (p.Gly612Ser)
 ClinVar dbSNP
Xg.108666540G>CCA413847751COL4A5c.3499G>C (p.Gly1167Arg)
c.3175G>C (p.Gly1059Arg)
c.1072G>C (p.Gly358Arg)
c.3514G>C (p.Gly1172Arg)
c.1834G>C (p.Gly612Arg)
 gnomAD v4
Xg.108666540G=CA2450712332COL4A5c.3499G= (p.Gly1167=)
c.3175G= (p.Gly1059=)
c.1072G= (p.Gly358=)
c.3514G= (p.Gly1172=)
c.1834G= (p.Gly612=)
Xg.108666540G>TCA413847752COL4A5c.3499G>T (p.Gly1167Cys)
c.3175G>T (p.Gly1059Cys)
c.1072G>T (p.Gly358Cys)
c.3514G>T (p.Gly1172Cys)
c.1834G>T (p.Gly612Cys)
Xg.108666541G>ACA413847753COL4A5c.3500G>A (p.Gly1167Asp)
c.3176G>A (p.Gly1059Asp)
c.1073G>A (p.Gly358Asp)
c.3515G>A (p.Gly1172Asp)
c.1835G>A (p.Gly612Asp)
 ClinVar
Xg.108666541G>CCA413847754COL4A5c.3500G>C (p.Gly1167Ala)
c.3176G>C (p.Gly1059Ala)
c.1073G>C (p.Gly358Ala)
c.3515G>C (p.Gly1172Ala)
c.1835G>C (p.Gly612Ala)
Xg.108666541G>TCA413847755COL4A5c.3500G>T (p.Gly1167Val)
c.3176G>T (p.Gly1059Val)
c.1073G>T (p.Gly358Val)
c.3515G>T (p.Gly1172Val)
c.1835G>T (p.Gly612Val)
Xg.108666542C>ACA517922358COL4A5c.3501C>A (p.Gly1167=)
c.3177C>A (p.Gly1059=)
c.1074C>A (p.Gly358=)
c.3516C>A (p.Gly1172=)
c.1836C>A (p.Gly612=)
Xg.108666542C>GCA517922359COL4A5c.3501C>G (p.Gly1167=)
c.3177C>G (p.Gly1059=)
c.1074C>G (p.Gly358=)
c.3516C>G (p.Gly1172=)
c.1836C>G (p.Gly612=)
Xg.108666542C>TCA517922360COL4A5c.3501C>T (p.Gly1167=)
c.3177C>T (p.Gly1059=)
c.1074C>T (p.Gly358=)
c.3516C>T (p.Gly1172=)
c.1836C>T (p.Gly612=)
 gnomAD v4
Xg.108666543A>CCA413847756COL4A5c.3502A>C (p.Lys1168Gln)
c.3178A>C (p.Lys1060Gln)
c.1075A>C (p.Lys359Gln)
c.3517A>C (p.Lys1173Gln)
c.1837A>C (p.Lys613Gln)
 gnomAD v4
Xg.108666543A>GCA413847757COL4A5c.3502A>G (p.Lys1168Glu)
c.3178A>G (p.Lys1060Glu)
c.1075A>G (p.Lys359Glu)
c.3517A>G (p.Lys1173Glu)
c.1837A>G (p.Lys613Glu)
Xg.108666543A>TCA413847758COL4A5c.3502A>T (p.Lys1168Ter)
c.3178A>T (p.Lys1060Ter)
c.1075A>T (p.Lys359Ter)
c.3517A>T (p.Lys1173Ter)
c.1837A>T (p.Lys613Ter)
Xg.108666544A=CA2450712333COL4A5c.3503A= (p.Lys1168=)
c.3179A= (p.Lys1060=)
c.1076A= (p.Lys359=)
c.3518A= (p.Lys1173=)
c.1838A= (p.Lys613=)
Xg.108666544A>CCA413847760COL4A5c.3503A>C (p.Lys1168Thr)
c.3179A>C (p.Lys1060Thr)
c.1076A>C (p.Lys359Thr)
c.3518A>C (p.Lys1173Thr)
c.1838A>C (p.Lys613Thr)
Xg.108666544A>GCA413847761COL4A5c.3503A>G (p.Lys1168Arg)
c.3179A>G (p.Lys1060Arg)
c.1076A>G (p.Lys359Arg)
c.3518A>G (p.Lys1173Arg)
c.1838A>G (p.Lys613Arg)
Xg.108666544A>TCA413847759COL4A5c.3503A>T (p.Lys1168Ile)
c.3179A>T (p.Lys1060Ile)
c.1076A>T (p.Lys359Ile)
c.3518A>T (p.Lys1173Ile)
c.1838A>T (p.Lys613Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108666545A>CCA413847762COL4A5c.3504A>C (p.Lys1168Asn)
c.3180A>C (p.Lys1060Asn)
c.1077A>C (p.Lys359Asn)
c.3519A>C (p.Lys1173Asn)
c.1839A>C (p.Lys613Asn)
Xg.108666545A>GCA517922362COL4A5c.3504A>G (p.Lys1168=)
c.3180A>G (p.Lys1060=)
c.1077A>G (p.Lys359=)
c.3519A>G (p.Lys1173=)
c.1839A>G (p.Lys613=)
Xg.108666545A>TCA413847763COL4A5c.3504A>T (p.Lys1168Asn)
c.3180A>T (p.Lys1060Asn)
c.1077A>T (p.Lys359Asn)
c.3519A>T (p.Lys1173Asn)
c.1839A>T (p.Lys613Asn)
Xg.108666546_108666553delCA517922363COL4A5c.3505_3512del (p.Pro1169ArgfsTer12)
c.3181_3188del (p.Pro1061ArgfsTer12)
c.1078_1085del (p.Pro360ArgfsTer12)
c.3520_3527del (p.Pro1174ArgfsTer12)
c.1840_1847del (p.Pro614ArgfsTer12)
Xg.108666546C>ACA413847764COL4A5c.3505C>A (p.Pro1169Thr)
c.3181C>A (p.Pro1061Thr)
c.1078C>A (p.Pro360Thr)
c.3520C>A (p.Pro1174Thr)
c.1840C>A (p.Pro614Thr)
 gnomAD v4
Xg.108666546C>GCA413847765COL4A5c.3505C>G (p.Pro1169Ala)
c.3181C>G (p.Pro1061Ala)
c.1078C>G (p.Pro360Ala)
c.3520C>G (p.Pro1174Ala)
c.1840C>G (p.Pro614Ala)
Xg.108666546C>TCA413847766COL4A5c.3505C>T (p.Pro1169Ser)
c.3181C>T (p.Pro1061Ser)
c.1078C>T (p.Pro360Ser)
c.3520C>T (p.Pro1174Ser)
c.1840C>T (p.Pro614Ser)
 gnomAD v4
Xg.108666547C>ACA413847767COL4A5c.3506C>A (p.Pro1169His)
c.3182C>A (p.Pro1061His)
c.1079C>A (p.Pro360His)
c.3521C>A (p.Pro1174His)
c.1841C>A (p.Pro614His)
 gnomAD v4
Xg.108666547C>GCA413847768COL4A5c.3506C>G (p.Pro1169Arg)
c.3182C>G (p.Pro1061Arg)
c.1079C>G (p.Pro360Arg)
c.3521C>G (p.Pro1174Arg)
c.1841C>G (p.Pro614Arg)
Xg.108666547C>TCA413847769COL4A5c.3506C>T (p.Pro1169Leu)
c.3182C>T (p.Pro1061Leu)
c.1079C>T (p.Pro360Leu)
c.3521C>T (p.Pro1174Leu)
c.1841C>T (p.Pro614Leu)
Xg.108666548C>ACA517922367COL4A5c.3507C>A (p.Pro1169=)
c.3183C>A (p.Pro1061=)
c.1080C>A (p.Pro360=)
c.3522C>A (p.Pro1174=)
c.1842C>A (p.Pro614=)
Xg.108666548C=CA2450712335COL4A5c.3507C= (p.Pro1169=)
c.3183C= (p.Pro1061=)
c.1080C= (p.Pro360=)
c.3522C= (p.Pro1174=)
c.1842C= (p.Pro614=)
Xg.108666548C>GCA517922368COL4A5c.3507C>G (p.Pro1169=)
c.3183C>G (p.Pro1061=)
c.1080C>G (p.Pro360=)
c.3522C>G (p.Pro1174=)
c.1842C>G (p.Pro614=)
 ClinVar
Xg.108666548C>TCA10489124COL4A5c.3507C>T (p.Pro1169=)
c.3183C>T (p.Pro1061=)
c.1080C>T (p.Pro360=)
c.3522C>T (p.Pro1174=)
c.1842C>T (p.Pro614=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108666548_108666549delinsCGCA2450712334COL4A5c.3507_3508delinsCG (p.Pro1169=)
c.3183_3184delinsCG (p.Pro1061=)
c.1080_1081delinsCG (p.Pro360=)
c.3522_3523delinsCG (p.Pro1174=)
c.1842_1843delinsCG (p.Pro614=)
Xg.108666549G>ACA258878COL4A5c.3508G>A (p.Gly1170Ser)
c.3184G>A (p.Gly1062Ser)
c.1081G>A (p.Gly361Ser)
c.3523G>A (p.Gly1175Ser)
c.1843G>A (p.Gly615Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108666549G>CCA413847770COL4A5c.3508G>C (p.Gly1170Arg)
c.3184G>C (p.Gly1062Arg)
c.1081G>C (p.Gly361Arg)
c.3523G>C (p.Gly1175Arg)
c.1843G>C (p.Gly615Arg)
 ClinVar dbSNP
Xg.108666549G=CA2450712336COL4A5c.3508G= (p.Gly1170=)
c.3184G= (p.Gly1062=)
c.1081G= (p.Gly361=)
c.3523G= (p.Gly1175=)
c.1843G= (p.Gly615=)
Xg.108666549G>TCA413847771COL4A5c.3508G>T (p.Gly1170Cys)
c.3184G>T (p.Gly1062Cys)
c.1081G>T (p.Gly361Cys)
c.3523G>T (p.Gly1175Cys)
c.1843G>T (p.Gly615Cys)
 ClinVar dbSNP gnomAD v4
Xg.108666550delCA258880COL4A5c.3509del (p.Gly1170ValfsTer?)
c.3185del (p.Gly1062ValfsTer?)
c.1082del (p.Gly361ValfsTer?)
c.3524del (p.Gly1175ValfsTer?)
c.1844del (p.Gly615ValfsTer?)
 dbSNP
Xg.108666550G>ACA16609464COL4A5c.3509G>A (p.Gly1170Asp)
c.3185G>A (p.Gly1062Asp)
c.1082G>A (p.Gly361Asp)
c.3524G>A (p.Gly1175Asp)
c.1844G>A (p.Gly615Asp)
 ClinVar dbSNP
Xg.108666550G>CCA413847773COL4A5c.3509G>C (p.Gly1170Ala)
c.3185G>C (p.Gly1062Ala)
c.1082G>C (p.Gly361Ala)
c.3524G>C (p.Gly1175Ala)
c.1844G>C (p.Gly615Ala)
Xg.108666550G=CA2450712337COL4A5c.3509G= (p.Gly1170=)
c.3185G= (p.Gly1062=)
c.1082G= (p.Gly361=)
c.3524G= (p.Gly1175=)
c.1844G= (p.Gly615=)
Xg.108666550G>TCA413847772COL4A5c.3509G>T (p.Gly1170Val)
c.3185G>T (p.Gly1062Val)
c.1082G>T (p.Gly361Val)
c.3524G>T (p.Gly1175Val)
c.1844G>T (p.Gly615Val)
 ClinVar
Xg.108666551T>ACA517922372COL4A5c.3510T>A (p.Gly1170=)
c.3186T>A (p.Gly1062=)
c.1083T>A (p.Gly361=)
c.3525T>A (p.Gly1175=)
c.1845T>A (p.Gly615=)
Xg.108666551T>CCA517922373COL4A5c.3510T>C (p.Gly1170=)
c.3186T>C (p.Gly1062=)
c.1083T>C (p.Gly361=)
c.3525T>C (p.Gly1175=)
c.1845T>C (p.Gly615=)
Xg.108666551T>GCA517922374COL4A5c.3510T>G (p.Gly1170=)
c.3186T>G (p.Gly1062=)
c.1083T>G (p.Gly361=)
c.3525T>G (p.Gly1175=)
c.1845T>G (p.Gly615=)
Xg.108666552C>ACA413847774COL4A5c.3511C>A (p.Gln1171Lys)
c.3187C>A (p.Gln1063Lys)
c.1084C>A (p.Gln362Lys)
c.3526C>A (p.Gln1176Lys)
c.1846C>A (p.Gln616Lys)
 COSMIC COSMIC
Xg.108666552C=CA2450712338COL4A5c.3511C= (p.Gln1171=)
c.3187C= (p.Gln1063=)
c.1084C= (p.Gln362=)
c.3526C= (p.Gln1176=)
c.1846C= (p.Gln616=)
Xg.108666552C>GCA413847775COL4A5c.3511C>G (p.Gln1171Glu)
c.3187C>G (p.Gln1063Glu)
c.1084C>G (p.Gln362Glu)
c.3526C>G (p.Gln1176Glu)
c.1846C>G (p.Gln616Glu)
 COSMIC COSMIC
Xg.108666552C>TCA413847776COL4A5c.3511C>T (p.Gln1171Ter)
c.3187C>T (p.Gln1063Ter)
c.1084C>T (p.Gln362Ter)
c.3526C>T (p.Gln1176Ter)
c.1846C>T (p.Gln616Ter)
 ClinVar dbSNP
Xg.108666553A>CCA413847777COL4A5c.3512A>C (p.Gln1171Pro)
c.3188A>C (p.Gln1063Pro)
c.1085A>C (p.Gln362Pro)
c.3527A>C (p.Gln1176Pro)
c.1847A>C (p.Gln616Pro)
Xg.108666553A>GCA413847778COL4A5c.3512A>G (p.Gln1171Arg)
c.3188A>G (p.Gln1063Arg)
c.1085A>G (p.Gln362Arg)
c.3527A>G (p.Gln1176Arg)
c.1847A>G (p.Gln616Arg)
Xg.108666553A>TCA413847779COL4A5c.3512A>T (p.Gln1171Leu)
c.3188A>T (p.Gln1063Leu)
c.1085A>T (p.Gln362Leu)
c.3527A>T (p.Gln1176Leu)
c.1847A>T (p.Gln616Leu)
Xg.108666554A=CA2450712339COL4A5c.3513A= (p.Gln1171=)
c.3189A= (p.Gln1063=)
c.1086A= (p.Gln362=)
c.3528A= (p.Gln1176=)
c.1848A= (p.Gln616=)
Xg.108666554A>CCA413847780COL4A5c.3513A>C (p.Gln1171His)
c.3189A>C (p.Gln1063His)
c.1086A>C (p.Gln362His)
c.3528A>C (p.Gln1176His)
c.1848A>C (p.Gln616His)
Xg.108666554A>GCA258881COL4A5c.3513A>G (p.Gln1171=)
c.3189A>G (p.Gln1063=)
c.1086A>G (p.Gln362=)
c.3528A>G (p.Gln1176=)
c.1848A>G (p.Gln616=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108666554A>TCA413847781COL4A5c.3513A>T (p.Gln1171His)
c.3189A>T (p.Gln1063His)
c.1086A>T (p.Gln362His)
c.3528A>T (p.Gln1176His)
c.1848A>T (p.Gln616His)
Xg.108666555G>ACA413847782COL4A5c.3514G>A (p.Asp1172Asn)
c.3190G>A (p.Asp1064Asn)
c.1087G>A (p.Asp363Asn)
c.3529G>A (p.Asp1177Asn)
c.1849G>A (p.Asp617Asn)
Xg.108666555G>CCA413847783COL4A5c.3514G>C (p.Asp1172His)
c.3190G>C (p.Asp1064His)
c.1087G>C (p.Asp363His)
c.3529G>C (p.Asp1177His)
c.1849G>C (p.Asp617His)
Xg.108666555G>TCA413847784COL4A5c.3514G>T (p.Asp1172Tyr)
c.3190G>T (p.Asp1064Tyr)
c.1087G>T (p.Asp363Tyr)
c.3529G>T (p.Asp1177Tyr)
c.1849G>T (p.Asp617Tyr)
Xg.108666556A=CA2450712340COL4A5c.3515A= (p.Asp1172=)
c.3191A= (p.Asp1064=)
c.1088A= (p.Asp363=)
c.3530A= (p.Asp1177=)
c.1850A= (p.Asp617=)
Xg.108666556A>CCA413847786COL4A5c.3515A>C (p.Asp1172Ala)
c.3191A>C (p.Asp1064Ala)
c.1088A>C (p.Asp363Ala)
c.3530A>C (p.Asp1177Ala)
c.1850A>C (p.Asp617Ala)
Xg.108666556A>GCA413847787COL4A5c.3515A>G (p.Asp1172Gly)
c.3191A>G (p.Asp1064Gly)
c.1088A>G (p.Asp363Gly)
c.3530A>G (p.Asp1177Gly)
c.1850A>G (p.Asp617Gly)
 dbSNP
Xg.108666556A>TCA413847785COL4A5c.3515A>T (p.Asp1172Val)
c.3191A>T (p.Asp1064Val)
c.1088A>T (p.Asp363Val)
c.3530A>T (p.Asp1177Val)
c.1850A>T (p.Asp617Val)
Xg.108666557delCA517922383COL4A5c.3516del (p.Asp1172GlufsTer?)
c.3192del (p.Asp1064GlufsTer?)
c.1089del (p.Asp363GlufsTer?)
c.3531del (p.Asp1177GlufsTer?)
c.1851del (p.Asp617GlufsTer?)
Xg.108666557T>ACA413847788COL4A5c.3516T>A (p.Asp1172Glu)
c.3192T>A (p.Asp1064Glu)
c.1089T>A (p.Asp363Glu)
c.3531T>A (p.Asp1177Glu)
c.1851T>A (p.Asp617Glu)
 gnomAD v4
Xg.108666557T>CCA517922379COL4A5c.3516T>C (p.Asp1172=)
c.3192T>C (p.Asp1064=)
c.1089T>C (p.Asp363=)
c.3531T>C (p.Asp1177=)
c.1851T>C (p.Asp617=)
Xg.108666557T>GCA413847789COL4A5c.3516T>G (p.Asp1172Glu)
c.3192T>G (p.Asp1064Glu)
c.1089T>G (p.Asp363Glu)
c.3531T>G (p.Asp1177Glu)
c.1851T>G (p.Asp617Glu)
Xg.108666558G>ACA413847790COL4A5c.3517G>A (p.Gly1173Ser)
c.3193G>A (p.Gly1065Ser)
c.1090G>A (p.Gly364Ser)
c.3532G>A (p.Gly1178Ser)
c.1852G>A (p.Gly618Ser)
Xg.108666558G>CCA413847791COL4A5c.3517G>C (p.Gly1173Arg)
c.3193G>C (p.Gly1065Arg)
c.1090G>C (p.Gly364Arg)
c.3532G>C (p.Gly1178Arg)
c.1852G>C (p.Gly618Arg)
Xg.108666558G>TCA413847792COL4A5c.3517G>T (p.Gly1173Cys)
c.3193G>T (p.Gly1065Cys)
c.1090G>T (p.Gly364Cys)
c.3532G>T (p.Gly1178Cys)
c.1852G>T (p.Gly618Cys)
Xg.108666559G>ACA413847793COL4A5c.3518G>A (p.Gly1173Asp)
c.3194G>A (p.Gly1065Asp)
c.1091G>A (p.Gly364Asp)
c.3533G>A (p.Gly1178Asp)
c.1853G>A (p.Gly618Asp)
Xg.108666559G>CCA413847794COL4A5c.3518G>C (p.Gly1173Ala)
c.3194G>C (p.Gly1065Ala)
c.1091G>C (p.Gly364Ala)
c.3533G>C (p.Gly1178Ala)
c.1853G>C (p.Gly618Ala)
Xg.108666559G>TCA413847795COL4A5c.3518G>T (p.Gly1173Val)
c.3194G>T (p.Gly1065Val)
c.1091G>T (p.Gly364Val)
c.3533G>T (p.Gly1178Val)
c.1853G>T (p.Gly618Val)
Xg.108666560T>ACA517922386COL4A5c.3519T>A (p.Gly1173=)
c.3195T>A (p.Gly1065=)
c.1092T>A (p.Gly364=)
c.3534T>A (p.Gly1178=)
c.1854T>A (p.Gly618=)
Xg.108666560T>CCA517922388COL4A5c.3519T>C (p.Gly1173=)
c.3195T>C (p.Gly1065=)
c.1092T>C (p.Gly364=)
c.3534T>C (p.Gly1178=)
c.1854T>C (p.Gly618=)
Xg.108666560T>GCA10489125COL4A5c.3519T>G (p.Gly1173=)
c.3195T>G (p.Gly1065=)
c.1092T>G (p.Gly364=)
c.3534T>G (p.Gly1178=)
c.1854T>G (p.Gly618=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108666560T=CA2450712341COL4A5c.3519T= (p.Gly1173=)
c.3195T= (p.Gly1065=)
c.1092T= (p.Gly364=)
c.3534T= (p.Gly1178=)
c.1854T= (p.Gly618=)
Xg.108666560_108666561insTTTCA517922384COL4A5c.3519_3520insTTT (p.Gly1173_Ile1174insPhe)
c.3195_3196insTTT (p.Gly1065_Ile1066insPhe)
c.1092_1093insTTT (p.Gly364_Ile365insPhe)
c.3534_3535insTTT (p.Gly1178_Ile1179insPhe)
c.1854_1855insTTT (p.Gly618_Ile619insPhe)
Xg.108666561A>CCA413847796COL4A5c.3520A>C (p.Ile1174Leu)
c.3196A>C (p.Ile1066Leu)
c.1093A>C (p.Ile365Leu)
c.3535A>C (p.Ile1179Leu)
c.1855A>C (p.Ile619Leu)
Xg.108666561A>GCA413847798COL4A5c.3520A>G (p.Ile1174Val)
c.3196A>G (p.Ile1066Val)
c.1093A>G (p.Ile365Val)
c.3535A>G (p.Ile1179Val)
c.1855A>G (p.Ile619Val)
Xg.108666561A>TCA413847797COL4A5c.3520A>T (p.Ile1174Phe)
c.3196A>T (p.Ile1066Phe)
c.1093A>T (p.Ile365Phe)
c.3535A>T (p.Ile1179Phe)
c.1855A>T (p.Ile619Phe)
Xg.108666562T>ACA413847799COL4A5c.3521T>A (p.Ile1174Asn)
c.3197T>A (p.Ile1066Asn)
c.1094T>A (p.Ile365Asn)
c.3536T>A (p.Ile1179Asn)
c.1856T>A (p.Ile619Asn)
Xg.108666562T>CCA413847800COL4A5c.3521T>C (p.Ile1174Thr)
c.3197T>C (p.Ile1066Thr)
c.1094T>C (p.Ile365Thr)
c.3536T>C (p.Ile1179Thr)
c.1856T>C (p.Ile619Thr)
Xg.108666562T>GCA413847801COL4A5c.3521T>G (p.Ile1174Ser)
c.3197T>G (p.Ile1066Ser)
c.1094T>G (p.Ile365Ser)
c.3536T>G (p.Ile1179Ser)
c.1856T>G (p.Ile619Ser)
Xg.108666563T>ACA517922394COL4A5c.3522T>A (p.Ile1174=)
c.3198T>A (p.Ile1066=)
c.1095T>A (p.Ile365=)
c.3537T>A (p.Ile1179=)
c.1857T>A (p.Ile619=)
Xg.108666563T>CCA517922392COL4A5c.3522T>C (p.Ile1174=)
c.3198T>C (p.Ile1066=)
c.1095T>C (p.Ile365=)
c.3537T>C (p.Ile1179=)
c.1857T>C (p.Ile619=)
Xg.108666563T>GCA413847802COL4A5c.3522T>G (p.Ile1174Met)
c.3198T>G (p.Ile1066Met)
c.1095T>G (p.Ile365Met)
c.3537T>G (p.Ile1179Met)
c.1857T>G (p.Ile619Met)
Xg.108666564C>ACA413847808COL4A5c.3523C>A (p.Pro1175Thr)
c.3199C>A (p.Pro1067Thr)
c.1096C>A (p.Pro366Thr)
c.3538C>A (p.Pro1180Thr)
c.1858C>A (p.Pro620Thr)
 gnomAD v4
Xg.108666564C>GCA413847805COL4A5c.3523C>G (p.Pro1175Ala)
c.3199C>G (p.Pro1067Ala)
c.1096C>G (p.Pro366Ala)
c.3538C>G (p.Pro1180Ala)
c.1858C>G (p.Pro620Ala)
Xg.108666564C>TCA413847806COL4A5c.3523C>T (p.Pro1175Ser)
c.3199C>T (p.Pro1067Ser)
c.1096C>T (p.Pro366Ser)
c.3538C>T (p.Pro1180Ser)
c.1858C>T (p.Pro620Ser)
 gnomAD v4 COSMIC
Xg.108666565C>ACA413847810COL4A5c.3524C>A (p.Pro1175His)
c.3200C>A (p.Pro1067His)
c.1097C>A (p.Pro366His)
c.3539C>A (p.Pro1180His)
c.1859C>A (p.Pro620His)
Xg.108666565C>GCA413847811COL4A5c.3524C>G (p.Pro1175Arg)
c.3200C>G (p.Pro1067Arg)
c.1097C>G (p.Pro366Arg)
c.3539C>G (p.Pro1180Arg)
c.1859C>G (p.Pro620Arg)
Xg.108666565C>TCA413847812COL4A5c.3524C>T (p.Pro1175Leu)
c.3200C>T (p.Pro1067Leu)
c.1097C>T (p.Pro366Leu)
c.3539C>T (p.Pro1180Leu)
c.1859C>T (p.Pro620Leu)
Xg.108666566_108666570dupCA2695235647COL4A5c.3525_3529dup (p.Pro1177LeufsTer?)
c.3201_3205dup (p.Pro1069LeufsTer?)
c.1098_1102dup (p.Pro368LeufsTer?)
c.3540_3544dup (p.Pro1182LeufsTer?)
c.1860_1864dup (p.Pro622LeufsTer?)
Xg.108666566T>ACA517922395COL4A5c.3525T>A (p.Pro1175=)
c.3201T>A (p.Pro1067=)
c.1098T>A (p.Pro366=)
c.3540T>A (p.Pro1180=)
c.1860T>A (p.Pro620=)
Xg.108666566T>CCA517922396COL4A5c.3525T>C (p.Pro1175=)
c.3201T>C (p.Pro1067=)
c.1098T>C (p.Pro366=)
c.3540T>C (p.Pro1180=)
c.1860T>C (p.Pro620=)
Xg.108666566T>GCA517922398COL4A5c.3525T>G (p.Pro1175=)
c.3201T>G (p.Pro1067=)
c.1098T>G (p.Pro366=)
c.3540T>G (p.Pro1180=)
c.1860T>G (p.Pro620=)
Xg.108666566_108666567delinsTGCA2450712342COL4A5c.3525_3526delinsTG (p.Pro1175=)
c.3201_3202delinsTG (p.Pro1067=)
c.1098_1099delinsTG (p.Pro366=)
c.3540_3541delinsTG (p.Pro1180=)
c.1860_1861delinsTG (p.Pro620=)
Xg.108666567G>ACA413847815COL4A5c.3526G>A (p.Gly1176Arg)
c.3202G>A (p.Gly1068Arg)
c.1099G>A (p.Gly367Arg)
c.3541G>A (p.Gly1181Arg)
c.1861G>A (p.Gly621Arg)
 ClinVar
Xg.108666567G>CCA413847817COL4A5c.3526G>C (p.Gly1176Arg)
c.3202G>C (p.Gly1068Arg)
c.1099G>C (p.Gly367Arg)
c.3541G>C (p.Gly1181Arg)
c.1861G>C (p.Gly621Arg)
Xg.108666567G=CA2450712343COL4A5c.3526G= (p.Gly1176=)
c.3202G= (p.Gly1068=)
c.1099G= (p.Gly367=)
c.3541G= (p.Gly1181=)
c.1861G= (p.Gly621=)
Xg.108666567G>TCA413847818COL4A5c.3526G>T (p.Gly1176Ter)
c.3202G>T (p.Gly1068Ter)
c.1099G>T (p.Gly367Ter)
c.3541G>T (p.Gly1181Ter)
c.1861G>T (p.Gly621Ter)
Xg.108666568delCA258884COL4A5c.3527del (p.Gly1176AspfsTer?)
c.3203del (p.Gly1068AspfsTer?)
c.1100del (p.Gly367AspfsTer?)
c.3542del (p.Gly1181AspfsTer?)
c.1862del (p.Gly621AspfsTer?)
 dbSNP
Xg.108666568G>ACA10604411COL4A5c.3527G>A (p.Gly1176Glu)
c.3203G>A (p.Gly1068Glu)
c.1100G>A (p.Gly367Glu)
c.3542G>A (p.Gly1181Glu)
c.1862G>A (p.Gly621Glu)
 ClinVar dbSNP
Xg.108666568G>CCA413847823COL4A5c.3527G>C (p.Gly1176Ala)
c.3203G>C (p.Gly1068Ala)
c.1100G>C (p.Gly367Ala)
c.3542G>C (p.Gly1181Ala)
c.1862G>C (p.Gly621Ala)
Xg.108666568G=CA2450712344COL4A5c.3527G= (p.Gly1176=)
c.3203G= (p.Gly1068=)
c.1100G= (p.Gly367=)
c.3542G= (p.Gly1181=)
c.1862G= (p.Gly621=)
Xg.108666568G>TCA413847824COL4A5c.3527G>T (p.Gly1176Val)
c.3203G>T (p.Gly1068Val)
c.1100G>T (p.Gly367Val)
c.3542G>T (p.Gly1181Val)
c.1862G>T (p.Gly621Val)
Xg.108666569A>CCA517922402COL4A5c.3528A>C (p.Gly1176=)
c.3204A>C (p.Gly1068=)
c.1101A>C (p.Gly367=)
c.3543A>C (p.Gly1181=)
c.1863A>C (p.Gly621=)
Xg.108666569A>GCA517922403COL4A5c.3528A>G (p.Gly1176=)
c.3204A>G (p.Gly1068=)
c.1101A>G (p.Gly367=)
c.3543A>G (p.Gly1181=)
c.1863A>G (p.Gly621=)
 gnomAD v4
Xg.108666569A>TCA517922404COL4A5c.3528A>T (p.Gly1176=)
c.3204A>T (p.Gly1068=)
c.1101A>T (p.Gly367=)
c.3543A>T (p.Gly1181=)
c.1863A>T (p.Gly621=)
Xg.108666570C>ACA413847826COL4A5c.3529C>A (p.Pro1177Thr)
c.3205C>A (p.Pro1069Thr)
c.1102C>A (p.Pro368Thr)
c.3544C>A (p.Pro1182Thr)
c.1864C>A (p.Pro622Thr)
Xg.108666570C>GCA413847829COL4A5c.3529C>G (p.Pro1177Ala)
c.3205C>G (p.Pro1069Ala)
c.1102C>G (p.Pro368Ala)
c.3544C>G (p.Pro1182Ala)
c.1864C>G (p.Pro622Ala)
 gnomAD v4
Xg.108666570C>TCA413847831COL4A5c.3529C>T (p.Pro1177Ser)
c.3205C>T (p.Pro1069Ser)
c.1102C>T (p.Pro368Ser)
c.3544C>T (p.Pro1182Ser)
c.1864C>T (p.Pro622Ser)
Xg.108666571C>ACA10489126COL4A5c.3530C>A (p.Pro1177Gln)
c.3206C>A (p.Pro1069Gln)
c.1103C>A (p.Pro368Gln)
c.3545C>A (p.Pro1182Gln)
c.1865C>A (p.Pro622Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108666571C=CA2450712345COL4A5c.3530C= (p.Pro1177=)
c.3206C= (p.Pro1069=)
c.1103C= (p.Pro368=)
c.3545C= (p.Pro1182=)
c.1865C= (p.Pro622=)
Xg.108666571C>GCA413847836COL4A5c.3530C>G (p.Pro1177Arg)
c.3206C>G (p.Pro1069Arg)
c.1103C>G (p.Pro368Arg)
c.3545C>G (p.Pro1182Arg)
c.1865C>G (p.Pro622Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108666571C>TCA413847834COL4A5c.3530C>T (p.Pro1177Leu)
c.3206C>T (p.Pro1069Leu)
c.1103C>T (p.Pro368Leu)
c.3545C>T (p.Pro1182Leu)
c.1865C>T (p.Pro622Leu)
Xg.108666572A>CCA517922409COL4A5c.3531A>C (p.Pro1177=)
c.3207A>C (p.Pro1069=)
c.1104A>C (p.Pro368=)
c.3546A>C (p.Pro1182=)
c.1866A>C (p.Pro622=)
Xg.108666572A>GCA517922406COL4A5c.3531A>G (p.Pro1177=)
c.3207A>G (p.Pro1069=)
c.1104A>G (p.Pro368=)
c.3546A>G (p.Pro1182=)
c.1866A>G (p.Pro622=)
Xg.108666572A>TCA517922408COL4A5c.3531A>T (p.Pro1177=)
c.3207A>T (p.Pro1069=)
c.1104A>T (p.Pro368=)
c.3546A>T (p.Pro1182=)
c.1866A>T (p.Pro622=)
Xg.108666573G>ACA413847838COL4A5c.3532G>A (p.Ala1178Thr)
c.3208G>A (p.Ala1070Thr)
c.1105G>A (p.Ala369Thr)
c.3547G>A (p.Ala1183Thr)
c.1867G>A (p.Ala623Thr)
Xg.108666573G>CCA413847840COL4A5c.3532G>C (p.Ala1178Pro)
c.3208G>C (p.Ala1070Pro)
c.1105G>C (p.Ala369Pro)
c.3547G>C (p.Ala1183Pro)
c.1867G>C (p.Ala623Pro)
Xg.108666573G>TCA413847842COL4A5c.3532G>T (p.Ala1178Ser)
c.3208G>T (p.Ala1070Ser)
c.1105G>T (p.Ala369Ser)
c.3547G>T (p.Ala1183Ser)
c.1867G>T (p.Ala623Ser)
Xg.108666574C>ACA413847845COL4A5c.3533C>A (p.Ala1178Asp)
c.3209C>A (p.Ala1070Asp)
c.1106C>A (p.Ala369Asp)
c.3548C>A (p.Ala1183Asp)
c.1868C>A (p.Ala623Asp)
 gnomAD v4
Xg.108666574C>GCA413847847COL4A5c.3533C>G (p.Ala1178Gly)
c.3209C>G (p.Ala1070Gly)
c.1106C>G (p.Ala369Gly)
c.3548C>G (p.Ala1183Gly)
c.1868C>G (p.Ala623Gly)
Xg.108666574C>TCA413847849COL4A5c.3533C>T (p.Ala1178Val)
c.3209C>T (p.Ala1070Val)
c.1106C>T (p.Ala369Val)
c.3548C>T (p.Ala1183Val)
c.1868C>T (p.Ala623Val)
Xg.108666575T>ACA517922410COL4A5c.3534T>A (p.Ala1178=)
c.3210T>A (p.Ala1070=)
c.1107T>A (p.Ala369=)
c.3549T>A (p.Ala1183=)
c.1869T>A (p.Ala623=)
Xg.108666575T>CCA517922412COL4A5c.3534T>C (p.Ala1178=)
c.3210T>C (p.Ala1070=)
c.1107T>C (p.Ala369=)
c.3549T>C (p.Ala1183=)
c.1869T>C (p.Ala623=)
Xg.108666575T>GCA517922414COL4A5c.3534T>G (p.Ala1178=)
c.3210T>G (p.Ala1070=)
c.1107T>G (p.Ala369=)
c.3549T>G (p.Ala1183=)
c.1869T>G (p.Ala623=)
Xg.108666576G>ACA258885COL4A5c.3535G>A (p.Gly1179Arg)
c.3211G>A (p.Gly1071Arg)
c.1108G>A (p.Gly370Arg)
c.3550G>A (p.Gly1184Arg)
c.1870G>A (p.Gly624Arg)
 dbSNP
Xg.108666576G>CCA413847852COL4A5c.3535G>C (p.Gly1179Arg)
c.3211G>C (p.Gly1071Arg)
c.1108G>C (p.Gly370Arg)
c.3550G>C (p.Gly1184Arg)
c.1870G>C (p.Gly624Arg)
Xg.108666576G=CA2450712346COL4A5c.3535G= (p.Gly1179=)
c.3211G= (p.Gly1071=)
c.1108G= (p.Gly370=)
c.3550G= (p.Gly1184=)
c.1870G= (p.Gly624=)
Xg.108666576G>TCA413847854COL4A5c.3535G>T (p.Gly1179Ter)
c.3211G>T (p.Gly1071Ter)
c.1108G>T (p.Gly370Ter)
c.3550G>T (p.Gly1184Ter)
c.1870G>T (p.Gly624Ter)
 ClinVar dbSNP COSMIC COSMIC
Xg.108666577delCA2695235648COL4A5c.3536del (p.Gly1179AspfsTer?)
c.3212del (p.Gly1071AspfsTer?)
c.1109del (p.Gly370AspfsTer?)
c.3551del (p.Gly1184AspfsTer?)
c.1871del (p.Gly624AspfsTer?)
Xg.108666577G>ACA413847857COL4A5c.3536G>A (p.Gly1179Glu)
c.3212G>A (p.Gly1071Glu)
c.1109G>A (p.Gly370Glu)
c.3551G>A (p.Gly1184Glu)
c.1871G>A (p.Gly624Glu)
Xg.108666577G>CCA413847859COL4A5c.3536G>C (p.Gly1179Ala)
c.3212G>C (p.Gly1071Ala)
c.1109G>C (p.Gly370Ala)
c.3551G>C (p.Gly1184Ala)
c.1871G>C (p.Gly624Ala)
Xg.108666577G>TCA413847860COL4A5c.3536G>T (p.Gly1179Val)
c.3212G>T (p.Gly1071Val)
c.1109G>T (p.Gly370Val)
c.3551G>T (p.Gly1184Val)
c.1871G>T (p.Gly624Val)
 ClinVar dbSNP
Xg.108666578A>CCA517922416COL4A5c.3537A>C (p.Gly1179=)
c.3213A>C (p.Gly1071=)
c.1110A>C (p.Gly370=)
c.3552A>C (p.Gly1184=)
c.1872A>C (p.Gly624=)
Xg.108666578A>GCA517922417COL4A5c.3537A>G (p.Gly1179=)
c.3213A>G (p.Gly1071=)
c.1110A>G (p.Gly370=)
c.3552A>G (p.Gly1184=)
c.1872A>G (p.Gly624=)
Xg.108666578A>TCA517922419COL4A5c.3537A>T (p.Gly1179=)
c.3213A>T (p.Gly1071=)
c.1110A>T (p.Gly370=)
c.3552A>T (p.Gly1184=)
c.1872A>T (p.Gly624=)
Xg.108666579C>ACA413847867COL4A5c.3538C>A (p.Gln1180Lys)
c.3214C>A (p.Gln1072Lys)
c.1111C>A (p.Gln371Lys)
c.3553C>A (p.Gln1185Lys)
c.1873C>A (p.Gln625Lys)
Xg.108666579C=CA2450712347COL4A5c.3538C= (p.Gln1180=)
c.3214C= (p.Gln1072=)
c.1111C= (p.Gln371=)
c.3553C= (p.Gln1185=)
c.1873C= (p.Gln625=)
Xg.108666579C>GCA413847864COL4A5c.3538C>G (p.Gln1180Glu)
c.3214C>G (p.Gln1072Glu)
c.1111C>G (p.Gln371Glu)
c.3553C>G (p.Gln1185Glu)
c.1873C>G (p.Gln625Glu)
Xg.108666579C>TCA258888COL4A5c.3538C>T (p.Gln1180Ter)
c.3214C>T (p.Gln1072Ter)
c.1111C>T (p.Gln371Ter)
c.3553C>T (p.Gln1185Ter)
c.1873C>T (p.Gln625Ter)
 ClinVar dbSNP
Xg.108666580A>CCA413847869COL4A5c.3539A>C (p.Gln1180Pro)
c.3215A>C (p.Gln1072Pro)
c.1112A>C (p.Gln371Pro)
c.3554A>C (p.Gln1185Pro)
c.1874A>C (p.Gln625Pro)
 gnomAD v4
Xg.108666580A>GCA413847871COL4A5c.3539A>G (p.Gln1180Arg)
c.3215A>G (p.Gln1072Arg)
c.1112A>G (p.Gln371Arg)
c.3554A>G (p.Gln1185Arg)
c.1874A>G (p.Gln625Arg)
Xg.108666580A>TCA413847873COL4A5c.3539A>T (p.Gln1180Leu)
c.3215A>T (p.Gln1072Leu)
c.1112A>T (p.Gln371Leu)
c.3554A>T (p.Gln1185Leu)
c.1874A>T (p.Gln625Leu)
Xg.108666580_108666587delinsAGAAGGGTCA2450712348COL4A5c.3539_3546delinsAGAAGGGT (p.Gln1180=)
c.3215_3222delinsAGAAGGGT (p.Gln1072=)
c.1112_1119delinsAGAAGGGT (p.Gln371=)
c.3554_3561delinsAGAAGGGT (p.Gln1185=)
c.1874_1881delinsAGAAGGGT (p.Gln625=)
Xg.108666581G>ACA517922422COL4A5c.3540G>A (p.Gln1180=)
c.3216G>A (p.Gln1072=)
c.1113G>A (p.Gln371=)
c.3555G>A (p.Gln1185=)
c.1875G>A (p.Gln625=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666581G>CCA413847875COL4A5c.3540G>C (p.Gln1180His)
c.3216G>C (p.Gln1072His)
c.1113G>C (p.Gln371His)
c.3555G>C (p.Gln1185His)
c.1875G>C (p.Gln625His)
Xg.108666581G=CA2450712349COL4A5c.3540G= (p.Gln1180=)
c.3216G= (p.Gln1072=)
c.1113G= (p.Gln371=)
c.3555G= (p.Gln1185=)
c.1875G= (p.Gln625=)
Xg.108666581G>TCA413847877COL4A5c.3540G>T (p.Gln1180His)
c.3216G>T (p.Gln1072His)
c.1113G>T (p.Gln371His)
c.3555G>T (p.Gln1185His)
c.1875G>T (p.Gln625His)
 gnomAD v4
Xg.108666584_108666590delCA258891COL4A5c.3543_3549del (p.Lys1181AsnfsTer?)
c.3219_3225del (p.Lys1073AsnfsTer?)
c.1116_1122del (p.Lys372AsnfsTer?)
c.3558_3564del (p.Lys1186AsnfsTer?)
c.1878_1884del (p.Lys626AsnfsTer?)
 dbSNP
Xg.108666582A>CCA413847881COL4A5c.3541A>C (p.Lys1181Gln)
c.3217A>C (p.Lys1073Gln)
c.1114A>C (p.Lys372Gln)
c.3556A>C (p.Lys1186Gln)
c.1876A>C (p.Lys626Gln)
Xg.108666582A>GCA413847883COL4A5c.3541A>G (p.Lys1181Glu)
c.3217A>G (p.Lys1073Glu)
c.1114A>G (p.Lys372Glu)
c.3556A>G (p.Lys1186Glu)
c.1876A>G (p.Lys626Glu)
Xg.108666582A>TCA413847884COL4A5c.3541A>T (p.Lys1181Ter)
c.3217A>T (p.Lys1073Ter)
c.1114A>T (p.Lys372Ter)
c.3556A>T (p.Lys1186Ter)
c.1876A>T (p.Lys626Ter)
Xg.108666583delCA2694441417COL4A5c.3542del (p.Lys1181ArgfsTer?)
c.3218del (p.Lys1073ArgfsTer?)
c.1115del (p.Lys372ArgfsTer?)
c.3557del (p.Lys1186ArgfsTer?)
c.1877del (p.Lys626ArgfsTer?)
 gnomAD v4
Xg.108666583A>CCA413847887COL4A5c.3542A>C (p.Lys1181Thr)
c.3218A>C (p.Lys1073Thr)
c.1115A>C (p.Lys372Thr)
c.3557A>C (p.Lys1186Thr)
c.1877A>C (p.Lys626Thr)
Xg.108666583A>GCA413847889COL4A5c.3542A>G (p.Lys1181Arg)
c.3218A>G (p.Lys1073Arg)
c.1115A>G (p.Lys372Arg)
c.3557A>G (p.Lys1186Arg)
c.1877A>G (p.Lys626Arg)
Xg.108666583A>TCA413847890COL4A5c.3542A>T (p.Lys1181Met)
c.3218A>T (p.Lys1073Met)
c.1115A>T (p.Lys372Met)
c.3557A>T (p.Lys1186Met)
c.1877A>T (p.Lys626Met)
Xg.108666584G>ACA517922423COL4A5c.3543G>A (p.Lys1181=)
c.3219G>A (p.Lys1073=)
c.1116G>A (p.Lys372=)
c.3558G>A (p.Lys1186=)
c.1878G>A (p.Lys626=)
Xg.108666584G>CCA413847894COL4A5c.3543G>C (p.Lys1181Asn)
c.3219G>C (p.Lys1073Asn)
c.1116G>C (p.Lys372Asn)
c.3558G>C (p.Lys1186Asn)
c.1878G>C (p.Lys626Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.108666584G=CA2450712350COL4A5c.3543G= (p.Lys1181=)
c.3219G= (p.Lys1073=)
c.1116G= (p.Lys372=)
c.3558G= (p.Lys1186=)
c.1878G= (p.Lys626=)
Xg.108666584G>TCA413847892COL4A5c.3543G>T (p.Lys1181Asn)
c.3219G>T (p.Lys1073Asn)
c.1116G>T (p.Lys372Asn)
c.3558G>T (p.Lys1186Asn)
c.1878G>T (p.Lys626Asn)
Xg.108666585G>ACA413847896COL4A5c.3544G>A (p.Gly1182Ser)
c.3220G>A (p.Gly1074Ser)
c.1117G>A (p.Gly373Ser)
c.3559G>A (p.Gly1187Ser)
c.1879G>A (p.Gly627Ser)
Xg.108666585G>CCA258892COL4A5c.3544G>C (p.Gly1182Arg)
c.3220G>C (p.Gly1074Arg)
c.1117G>C (p.Gly373Arg)
c.3559G>C (p.Gly1187Arg)
c.1879G>C (p.Gly627Arg)
 dbSNP
Xg.108666585G=CA2450712351COL4A5c.3544G= (p.Gly1182=)
c.3220G= (p.Gly1074=)
c.1117G= (p.Gly373=)
c.3559G= (p.Gly1187=)
c.1879G= (p.Gly627=)
Xg.108666585G>TCA413847898COL4A5c.3544G>T (p.Gly1182Cys)
c.3220G>T (p.Gly1074Cys)
c.1117G>T (p.Gly373Cys)
c.3559G>T (p.Gly1187Cys)
c.1879G>T (p.Gly627Cys)
 gnomAD v4
Xg.108666586G>ACA413847901COL4A5c.3545G>A (p.Gly1182Asp)
c.3221G>A (p.Gly1074Asp)
c.1118G>A (p.Gly373Asp)
c.3560G>A (p.Gly1187Asp)
c.1880G>A (p.Gly627Asp)
 gnomAD v4
Xg.108666586G>CCA413847903COL4A5c.3545G>C (p.Gly1182Ala)
c.3221G>C (p.Gly1074Ala)
c.1118G>C (p.Gly373Ala)
c.3560G>C (p.Gly1187Ala)
c.1880G>C (p.Gly627Ala)
Xg.108666586G=CA2450712352COL4A5c.3545G= (p.Gly1182=)
c.3221G= (p.Gly1074=)
c.1118G= (p.Gly373=)
c.3560G= (p.Gly1187=)
c.1880G= (p.Gly627=)
Xg.108666586G>TCA413847905COL4A5c.3545G>T (p.Gly1182Val)
c.3221G>T (p.Gly1074Val)
c.1118G>T (p.Gly373Val)
c.3560G>T (p.Gly1187Val)
c.1880G>T (p.Gly627Val)
Xg.108666587T>ACA517922428COL4A5c.3546T>A (p.Gly1182=)
c.3222T>A (p.Gly1074=)
c.1119T>A (p.Gly373=)
c.3561T>A (p.Gly1187=)
c.1881T>A (p.Gly627=)
Xg.108666587T>CCA517922427COL4A5c.3546T>C (p.Gly1182=)
c.3222T>C (p.Gly1074=)
c.1119T>C (p.Gly373=)
c.3561T>C (p.Gly1187=)
c.1881T>C (p.Gly627=)
Xg.108666587T>GCA517922426COL4A5c.3546T>G (p.Gly1182=)
c.3222T>G (p.Gly1074=)
c.1119T>G (p.Gly373=)
c.3561T>G (p.Gly1187=)
c.1881T>G (p.Gly627=)
Xg.108666588G>ACA413847907COL4A5c.3547G>A (p.Glu1183Lys)
c.3223G>A (p.Glu1075Lys)
c.1120G>A (p.Glu374Lys)
c.3562G>A (p.Glu1188Lys)
c.1882G>A (p.Glu628Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108666588G>CCA413847909COL4A5c.3547G>C (p.Glu1183Gln)
c.3223G>C (p.Glu1075Gln)
c.1120G>C (p.Glu374Gln)
c.3562G>C (p.Glu1188Gln)
c.1882G>C (p.Glu628Gln)
Xg.108666588G=CA2450712353COL4A5c.3547G= (p.Glu1183=)
c.3223G= (p.Glu1075=)
c.1120G= (p.Glu374=)
c.3562G= (p.Glu1188=)
c.1882G= (p.Glu628=)
Xg.108666588G>TCA413847911COL4A5c.3547G>T (p.Glu1183Ter)
c.3223G>T (p.Glu1075Ter)
c.1120G>T (p.Glu374Ter)
c.3562G>T (p.Glu1188Ter)
c.1882G>T (p.Glu628Ter)
Xg.108666589A>CCA413847913COL4A5c.3548A>C (p.Glu1183Ala)
c.3224A>C (p.Glu1075Ala)
c.1121A>C (p.Glu374Ala)
c.3563A>C (p.Glu1188Ala)
c.1883A>C (p.Glu628Ala)
Xg.108666589A>GCA413847916COL4A5c.3548A>G (p.Glu1183Gly)
c.3224A>G (p.Glu1075Gly)
c.1121A>G (p.Glu374Gly)
c.3563A>G (p.Glu1188Gly)
c.1883A>G (p.Glu628Gly)
Xg.108666589A>TCA413847918COL4A5c.3548A>T (p.Glu1183Val)
c.3224A>T (p.Glu1075Val)
c.1121A>T (p.Glu374Val)
c.3563A>T (p.Glu1188Val)
c.1883A>T (p.Glu628Val)
Xg.108666590A>CCA413847920COL4A5c.3549A>C (p.Glu1183Asp)
c.3225A>C (p.Glu1075Asp)
c.1122A>C (p.Glu374Asp)
c.3564A>C (p.Glu1188Asp)
c.1884A>C (p.Glu628Asp)
Xg.108666590A>GCA517922431COL4A5c.3549A>G (p.Glu1183=)
c.3225A>G (p.Glu1075=)
c.1122A>G (p.Glu374=)
c.3564A>G (p.Glu1188=)
c.1884A>G (p.Glu628=)
Xg.108666590A>TCA413847923COL4A5c.3549A>T (p.Glu1183Asp)
c.3225A>T (p.Glu1075Asp)
c.1122A>T (p.Glu374Asp)
c.3564A>T (p.Glu1188Asp)
c.1884A>T (p.Glu628Asp)

Number of alleles fetched