Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108591074_108591082dupCA913182518COL4A5c.1182_1190dup (p.Gly397_Pro398insProProGly)
n.638_646dup
c.858_866dup (p.Gly289_Pro290insProProGly)
c.1197_1205dup (p.Gly402_Pro403insProProGly)
c.-528_-520dup (n.-528_-520dup)
Xg.108591074T>ACA517992141COL4A5c.1182T>A (p.Gly394=)
n.638T>A
c.858T>A (p.Gly286=)
c.1197T>A (p.Gly399=)
c.-528T>A (n.-528T>A)
Xg.108591074T>CCA517992142COL4A5c.1182T>C (p.Gly394=)
n.638T>C
c.858T>C (p.Gly286=)
c.1197T>C (p.Gly399=)
c.-528T>C (n.-528T>C)
Xg.108591074T>GCA517992143COL4A5c.1182T>G (p.Gly394=)
n.638T>G
c.858T>G (p.Gly286=)
c.1197T>G (p.Gly399=)
c.-528T>G (n.-528T>G)
Xg.108591075C>ACA413932160COL4A5c.1183C>A (p.Pro395Thr)
n.639C>A
c.859C>A (p.Pro287Thr)
c.1198C>A (p.Pro400Thr)
c.-527C>A (n.-527C>A)
Xg.108591075C>GCA413932162COL4A5c.1183C>G (p.Pro395Ala)
n.639C>G
c.859C>G (p.Pro287Ala)
c.1198C>G (p.Pro400Ala)
c.-527C>G (n.-527C>G)
Xg.108591075C>TCA413932164COL4A5c.1183C>T (p.Pro395Ser)
n.639C>T
c.859C>T (p.Pro287Ser)
c.1198C>T (p.Pro400Ser)
c.-527C>T (n.-527C>T)
 ClinVar dbSNP gnomAD v4
Xg.108591076C>ACA413932166COL4A5c.1184C>A (p.Pro395His)
n.640C>A
c.860C>A (p.Pro287His)
c.1199C>A (p.Pro400His)
c.-526C>A (n.-526C>A)
Xg.108591076C=CA2450686392COL4A5c.1184C= (p.Pro395=)
n.640C=
c.860C= (p.Pro287=)
c.1199C= (p.Pro400=)
c.-526C= (n.-526C=)
Xg.108591076C>GCA413932169COL4A5c.1184C>G (p.Pro395Arg)
n.640C>G
c.860C>G (p.Pro287Arg)
c.1199C>G (p.Pro400Arg)
c.-526C>G (n.-526C>G)
Xg.108591076C>TCA10488697COL4A5c.1184C>T (p.Pro395Leu)
n.640C>T
c.860C>T (p.Pro287Leu)
c.1199C>T (p.Pro400Leu)
c.-526C>T (n.-526C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108591077T>ACA517992144COL4A5c.1185T>A (p.Pro395=)
n.641T>A
c.861T>A (p.Pro287=)
c.1200T>A (p.Pro400=)
c.-525T>A (n.-525T>A)
Xg.108591077T>CCA517992146COL4A5c.1185T>C (p.Pro395=)
n.641T>C
c.861T>C (p.Pro287=)
c.1200T>C (p.Pro400=)
c.-525T>C (n.-525T>C)
Xg.108591077T>GCA517992145COL4A5c.1185T>G (p.Pro395=)
n.641T>G
c.861T>G (p.Pro287=)
c.1200T>G (p.Pro400=)
c.-525T>G (n.-525T>G)
Xg.108591078C>ACA413932172COL4A5c.1186C>A (p.Pro396Thr)
n.642C>A
c.862C>A (p.Pro288Thr)
c.1201C>A (p.Pro401Thr)
c.-524C>A (n.-524C>A)
Xg.108591078C=CA2450686393COL4A5c.1186C= (p.Pro396=)
n.642C=
c.862C= (p.Pro288=)
c.1201C= (p.Pro401=)
c.-524C= (n.-524C=)
Xg.108591078C>GCA413932174COL4A5c.1186C>G (p.Pro396Ala)
n.642C>G
c.862C>G (p.Pro288Ala)
c.1201C>G (p.Pro401Ala)
c.-524C>G (n.-524C>G)
 gnomAD v3 gnomAD v4
Xg.108591078C>TCA334182216COL4A5c.1186C>T (p.Pro396Ser)
n.642C>T
c.862C>T (p.Pro288Ser)
c.1201C>T (p.Pro401Ser)
c.-524C>T (n.-524C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108591079C>ACA413932180COL4A5c.1187C>A (p.Pro396His)
n.643C>A
c.863C>A (p.Pro288His)
c.1202C>A (p.Pro401His)
c.-523C>A (n.-523C>A)
Xg.108591079C=CA2450686394COL4A5c.1187C= (p.Pro396=)
n.643C=
c.863C= (p.Pro288=)
c.1202C= (p.Pro401=)
c.-523C= (n.-523C=)
Xg.108591079C>GCA413932185COL4A5c.1187C>G (p.Pro396Arg)
n.643C>G
c.863C>G (p.Pro288Arg)
c.1202C>G (p.Pro401Arg)
c.-523C>G (n.-523C>G)
Xg.108591079C>TCA10488698COL4A5c.1187C>T (p.Pro396Leu)
n.643C>T
c.863C>T (p.Pro288Leu)
c.1202C>T (p.Pro401Leu)
c.-523C>T (n.-523C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108591080T>ACA517992147COL4A5c.1188T>A (p.Pro396=)
n.644T>A
c.864T>A (p.Pro288=)
c.1203T>A (p.Pro401=)
c.-522T>A (n.-522T>A)
Xg.108591080T>CCA517992148COL4A5c.1188T>C (p.Pro396=)
n.644T>C
c.864T>C (p.Pro288=)
c.1203T>C (p.Pro401=)
c.-522T>C (n.-522T>C)
Xg.108591080T>GCA517992149COL4A5c.1188T>G (p.Pro396=)
n.644T>G
c.864T>G (p.Pro288=)
c.1203T>G (p.Pro401=)
c.-522T>G (n.-522T>G)
Xg.108591081G>ACA413932195COL4A5c.1189G>A (p.Gly397Ser)
n.645G>A
c.865G>A (p.Gly289Ser)
c.1204G>A (p.Gly402Ser)
c.-521G>A (n.-521G>A)
Xg.108591081G>CCA413932201COL4A5c.1189G>C (p.Gly397Arg)
n.645G>C
c.865G>C (p.Gly289Arg)
c.1204G>C (p.Gly402Arg)
c.-521G>C (n.-521G>C)
Xg.108591081G>TCA413932198COL4A5c.1189G>T (p.Gly397Cys)
n.645G>T
c.865G>T (p.Gly289Cys)
c.1204G>T (p.Gly402Cys)
c.-521G>T (n.-521G>T)
Xg.108591082G>ACA413932208COL4A5c.1190G>A (p.Gly397Asp)
n.646G>A
c.866G>A (p.Gly289Asp)
c.1205G>A (p.Gly402Asp)
c.-520G>A (n.-520G>A)
 ClinVar
Xg.108591082G>CCA413932210COL4A5c.1190G>C (p.Gly397Ala)
n.646G>C
c.866G>C (p.Gly289Ala)
c.1205G>C (p.Gly402Ala)
c.-520G>C (n.-520G>C)
Xg.108591082G>TCA413932212COL4A5c.1190G>T (p.Gly397Val)
n.646G>T
c.866G>T (p.Gly289Val)
c.1205G>T (p.Gly402Val)
c.-520G>T (n.-520G>T)
 ClinVar dbSNP
Xg.108591083C>ACA517992150COL4A5c.1191C>A (p.Gly397=)
n.647C>A
c.867C>A (p.Gly289=)
c.1206C>A (p.Gly402=)
c.-519C>A (n.-519C>A)
Xg.108591083C=CA2450686395COL4A5c.1191C= (p.Gly397=)
n.647C=
c.867C= (p.Gly289=)
c.1206C= (p.Gly402=)
c.-519C= (n.-519C=)
Xg.108591083C>GCA258417COL4A5c.1191C>G (p.Gly397=)
n.647C>G
c.867C>G (p.Gly289=)
c.1206C>G (p.Gly402=)
c.-519C>G (n.-519C>G)
 dbSNP
Xg.108591083C>TCA517992151COL4A5c.1191C>T (p.Gly397=)
n.647C>T
c.867C>T (p.Gly289=)
c.1206C>T (p.Gly402=)
c.-519C>T (n.-519C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108591085delCA2579676149COL4A5c.1193del (p.Pro398LeufsTer?)
n.649del
c.869del (p.Pro290LeufsTer?)
c.1208del (p.Pro403LeufsTer?)
c.-517del (n.-517del)
Xg.108591084C>ACA413932217COL4A5c.1192C>A (p.Pro398Thr)
n.648C>A
c.868C>A (p.Pro290Thr)
c.1207C>A (p.Pro403Thr)
c.-518C>A (n.-518C>A)
Xg.108591084C>GCA413932218COL4A5c.1192C>G (p.Pro398Ala)
n.648C>G
c.868C>G (p.Pro290Ala)
c.1207C>G (p.Pro403Ala)
c.-518C>G (n.-518C>G)
Xg.108591084C>TCA413932221COL4A5c.1192C>T (p.Pro398Ser)
n.648C>T
c.868C>T (p.Pro290Ser)
c.1207C>T (p.Pro403Ser)
c.-518C>T (n.-518C>T)
Xg.108591085C>ACA413932223COL4A5c.1193C>A (p.Pro398His)
n.649C>A
c.869C>A (p.Pro290His)
c.1208C>A (p.Pro403His)
c.-517C>A (n.-517C>A)
 gnomAD v4
Xg.108591085C>GCA413932224COL4A5c.1193C>G (p.Pro398Arg)
n.649C>G
c.869C>G (p.Pro290Arg)
c.1208C>G (p.Pro403Arg)
c.-517C>G (n.-517C>G)
Xg.108591085C>TCA413932225COL4A5c.1193C>T (p.Pro398Leu)
n.649C>T
c.869C>T (p.Pro290Leu)
c.1208C>T (p.Pro403Leu)
c.-517C>T (n.-517C>T)
Xg.108591086T>ACA517992152COL4A5c.1194T>A (p.Pro398=)
n.650T>A
c.870T>A (p.Pro290=)
c.1209T>A (p.Pro403=)
c.-516T>A (n.-516T>A)
Xg.108591086T>CCA517992153COL4A5c.1194T>C (p.Pro398=)
n.650T>C
c.870T>C (p.Pro290=)
c.1209T>C (p.Pro403=)
c.-516T>C (n.-516T>C)
 COSMIC COSMIC
Xg.108591086T>GCA517992154COL4A5c.1194T>G (p.Pro398=)
n.650T>G
c.870T>G (p.Pro290=)
c.1209T>G (p.Pro403=)
c.-516T>G (n.-516T>G)
Xg.108591087C>ACA413932226COL4A5c.1195C>A (p.Pro399Thr)
n.651C>A
c.871C>A (p.Pro291Thr)
c.1210C>A (p.Pro404Thr)
c.-515C>A (n.-515C>A)
Xg.108591087C>GCA413932227COL4A5c.1195C>G (p.Pro399Ala)
n.651C>G
c.871C>G (p.Pro291Ala)
c.1210C>G (p.Pro404Ala)
c.-515C>G (n.-515C>G)
 gnomAD v4
Xg.108591087C>TCA413932229COL4A5c.1195C>T (p.Pro399Ser)
n.651C>T
c.871C>T (p.Pro291Ser)
c.1210C>T (p.Pro404Ser)
c.-515C>T (n.-515C>T)
Xg.108591088C>ACA413932232COL4A5c.1196C>A (p.Pro399His)
n.652C>A
c.872C>A (p.Pro291His)
c.1211C>A (p.Pro404His)
c.-514C>A (n.-514C>A)
Xg.108591088C>GCA413932244COL4A5c.1196C>G (p.Pro399Arg)
n.652C>G
c.872C>G (p.Pro291Arg)
c.1211C>G (p.Pro404Arg)
c.-514C>G (n.-514C>G)
Xg.108591088C>TCA413932234COL4A5c.1196C>T (p.Pro399Leu)
n.652C>T
c.872C>T (p.Pro291Leu)
c.1211C>T (p.Pro404Leu)
c.-514C>T (n.-514C>T)
 gnomAD v4
Xg.108591089T>ACA517992155COL4A5c.1197T>A (p.Pro399=)
n.653T>A
c.873T>A (p.Pro291=)
c.1212T>A (p.Pro404=)
c.-513T>A (n.-513T>A)
Xg.108591089T>CCA517992156COL4A5c.1197T>C (p.Pro399=)
n.653T>C
c.873T>C (p.Pro291=)
c.1212T>C (p.Pro404=)
c.-513T>C (n.-513T>C)
Xg.108591089T>GCA517992157COL4A5c.1197T>G (p.Pro399=)
n.653T>G
c.873T>G (p.Pro291=)
c.1212T>G (p.Pro404=)
c.-513T>G (n.-513T>G)
Xg.108591090G>ACA413932247COL4A5c.1198G>A (p.Gly400Arg)
n.654G>A
c.874G>A (p.Gly292Arg)
c.1213G>A (p.Gly405Arg)
c.-512G>A (n.-512G>A)
Xg.108591090G>CCA413932249COL4A5c.1198G>C (p.Gly400Arg)
n.654G>C
c.874G>C (p.Gly292Arg)
c.1213G>C (p.Gly405Arg)
c.-512G>C (n.-512G>C)
Xg.108591090G=CA2450686396COL4A5c.1198G= (p.Gly400=)
n.654G=
c.874G= (p.Gly292=)
c.1213G= (p.Gly405=)
c.-512G= (n.-512G=)
Xg.108591090G>TCA413932251COL4A5c.1198G>T (p.Gly400Ter)
n.654G>T
c.874G>T (p.Gly292Ter)
c.1213G>T (p.Gly405Ter)
c.-512G>T (n.-512G>T)
 ClinVar dbSNP
Xg.108591091G>ACA258420COL4A5c.1199G>A (p.Gly400Glu)
n.655G>A
c.875G>A (p.Gly292Glu)
c.1214G>A (p.Gly405Glu)
c.-511G>A (n.-511G>A)
 ClinVar dbSNP
Xg.108591091G>CCA413932253COL4A5c.1199G>C (p.Gly400Ala)
n.655G>C
c.875G>C (p.Gly292Ala)
c.1214G>C (p.Gly405Ala)
c.-511G>C (n.-511G>C)
Xg.108591091G=CA2450686397COL4A5c.1199G= (p.Gly400=)
n.655G=
c.875G= (p.Gly292=)
c.1214G= (p.Gly405=)
c.-511G= (n.-511G=)
Xg.108591091G>TCA413932254COL4A5c.1199G>T (p.Gly400Val)
n.655G>T
c.875G>T (p.Gly292Val)
c.1214G>T (p.Gly405Val)
c.-511G>T (n.-511G>T)
Xg.108591092A>CCA517992158COL4A5c.1200A>C (p.Gly400=)
n.656A>C
c.876A>C (p.Gly292=)
c.1215A>C (p.Gly405=)
c.-510A>C (n.-510A>C)
Xg.108591092A>GCA517992159COL4A5c.1200A>G (p.Gly400=)
n.656A>G
c.876A>G (p.Gly292=)
c.1215A>G (p.Gly405=)
c.-510A>G (n.-510A>G)
 COSMIC COSMIC
Xg.108591092A>TCA517992160COL4A5c.1200A>T (p.Gly400=)
n.656A>T
c.876A>T (p.Gly292=)
c.1215A>T (p.Gly405=)
c.-510A>T (n.-510A>T)
Xg.108591093T>ACA413932257COL4A5c.1201T>A (p.Phe401Ile)
n.657T>A
c.877T>A (p.Phe293Ile)
c.1216T>A (p.Phe406Ile)
c.-509T>A (n.-509T>A)
Xg.108591093T>CCA413932260COL4A5c.1201T>C (p.Phe401Leu)
n.657T>C
c.877T>C (p.Phe293Leu)
c.1216T>C (p.Phe406Leu)
c.-509T>C (n.-509T>C)
Xg.108591093T>GCA413932263COL4A5c.1201T>G (p.Phe401Val)
n.657T>G
c.877T>G (p.Phe293Val)
c.1216T>G (p.Phe406Val)
c.-509T>G (n.-509T>G)
 gnomAD v4
Xg.108591094T>ACA413932271COL4A5c.1202T>A (p.Phe401Tyr)
n.658T>A
c.878T>A (p.Phe293Tyr)
c.1217T>A (p.Phe406Tyr)
c.-508T>A (n.-508T>A)
Xg.108591094T>CCA413932269COL4A5c.1202T>C (p.Phe401Ser)
n.658T>C
c.878T>C (p.Phe293Ser)
c.1217T>C (p.Phe406Ser)
c.-508T>C (n.-508T>C)
Xg.108591094T>GCA413932266COL4A5c.1202T>G (p.Phe401Cys)
n.658T>G
c.878T>G (p.Phe293Cys)
c.1217T>G (p.Phe406Cys)
c.-508T>G (n.-508T>G)
Xg.108591095T>ACA413932275COL4A5c.1203T>A (p.Phe401Leu)
n.659T>A
c.879T>A (p.Phe293Leu)
c.1218T>A (p.Phe406Leu)
c.-507T>A (n.-507T>A)
Xg.108591095T>CCA517992161COL4A5c.1203T>C (p.Phe401=)
n.659T>C
c.879T>C (p.Phe293=)
c.1218T>C (p.Phe406=)
c.-507T>C (n.-507T>C)
Xg.108591095T>GCA413932276COL4A5c.1203T>G (p.Phe401Leu)
n.659T>G
c.879T>G (p.Phe293Leu)
c.1218T>G (p.Phe406Leu)
c.-507T>G (n.-507T>G)
Xg.108591096C>ACA413932279COL4A5c.1204C>A (p.Pro402Thr)
n.660C>A
c.880C>A (p.Pro294Thr)
c.1219C>A (p.Pro407Thr)
c.-506C>A (n.-506C>A)
Xg.108591096C>GCA413932281COL4A5c.1204C>G (p.Pro402Ala)
n.660C>G
c.880C>G (p.Pro294Ala)
c.1219C>G (p.Pro407Ala)
c.-506C>G (n.-506C>G)
Xg.108591096C>TCA413932285COL4A5c.1204C>T (p.Pro402Ser)
n.660C>T
c.880C>T (p.Pro294Ser)
c.1219C>T (p.Pro407Ser)
c.-506C>T (n.-506C>T)
Xg.108591097C>ACA413932290COL4A5c.1205C>A (p.Pro402His)
n.661C>A
c.881C>A (p.Pro294His)
c.1220C>A (p.Pro407His)
c.-505C>A (n.-505C>A)
Xg.108591097C>GCA413932288COL4A5c.1205C>G (p.Pro402Arg)
n.661C>G
c.881C>G (p.Pro294Arg)
c.1220C>G (p.Pro407Arg)
c.-505C>G (n.-505C>G)
Xg.108591097C>TCA413932287COL4A5c.1205C>T (p.Pro402Leu)
n.661C>T
c.881C>T (p.Pro294Leu)
c.1220C>T (p.Pro407Leu)
c.-505C>T (n.-505C>T)
Xg.108591098T>ACA517992164COL4A5c.1206T>A (p.Pro402=)
n.662T>A
c.882T>A (p.Pro294=)
c.1221T>A (p.Pro407=)
c.-504T>A (n.-504T>A)
Xg.108591098T>CCA517992162COL4A5c.1206T>C (p.Pro402=)
n.662T>C
c.882T>C (p.Pro294=)
c.1221T>C (p.Pro407=)
c.-504T>C (n.-504T>C)
Xg.108591098T>GCA517992163COL4A5c.1206T>G (p.Pro402=)
n.662T>G
c.882T>G (p.Pro294=)
c.1221T>G (p.Pro407=)
c.-504T>G (n.-504T>G)
 gnomAD v4
Xg.108591099G>ACA413932293COL4A5c.1207G>A (p.Gly403Arg)
n.663G>A
c.883G>A (p.Gly295Arg)
c.1222G>A (p.Gly408Arg)
c.-503G>A (n.-503G>A)
Xg.108591099G>CCA413932295COL4A5c.1207G>C (p.Gly403Arg)
n.663G>C
c.883G>C (p.Gly295Arg)
c.1222G>C (p.Gly408Arg)
c.-503G>C (n.-503G>C)
Xg.108591099G>TCA413932299COL4A5c.1207G>T (p.Gly403Ter)
n.663G>T
c.883G>T (p.Gly295Ter)
c.1222G>T (p.Gly408Ter)
c.-503G>T (n.-503G>T)
Xg.108591100G>ACA413932302COL4A5c.1208G>A (p.Gly403Glu)
n.664G>A
c.884G>A (p.Gly295Glu)
c.1223G>A (p.Gly408Glu)
c.-502G>A (n.-502G>A)
 ClinVar
Xg.108591100G>CCA413932305COL4A5c.1208G>C (p.Gly403Ala)
n.664G>C
c.884G>C (p.Gly295Ala)
c.1223G>C (p.Gly408Ala)
c.-502G>C (n.-502G>C)
Xg.108591100G=CA2450686398COL4A5c.1208G= (p.Gly403=)
n.664G=
c.884G= (p.Gly295=)
c.1223G= (p.Gly408=)
c.-502G= (n.-502G=)
Xg.108591100G>TCA258422COL4A5c.1208G>T (p.Gly403Val)
n.664G>T
c.884G>T (p.Gly295Val)
c.1223G>T (p.Gly408Val)
c.-502G>T (n.-502G>T)
 dbSNP
Xg.108591101A>CCA517992165COL4A5c.1209A>C (p.Gly403=)
n.665A>C
c.885A>C (p.Gly295=)
c.1224A>C (p.Gly408=)
c.-501A>C (n.-501A>C)
Xg.108591101A>GCA517992166COL4A5c.1209A>G (p.Gly403=)
n.665A>G
c.885A>G (p.Gly295=)
c.1224A>G (p.Gly408=)
c.-501A>G (n.-501A>G)
Xg.108591101A>TCA517992167COL4A5c.1209A>T (p.Gly403=)
n.665A>T
c.885A>T (p.Gly295=)
c.1224A>T (p.Gly408=)
c.-501A>T (n.-501A>T)
Xg.108591102G>ACA413932310COL4A5c.1210G>A (p.Glu404Lys)
n.666G>A
c.886G>A (p.Glu296Lys)
c.1225G>A (p.Glu409Lys)
c.-500G>A (n.-500G>A)
Xg.108591102G>CCA413932312COL4A5c.1210G>C (p.Glu404Gln)
n.666G>C
c.886G>C (p.Glu296Gln)
c.1225G>C (p.Glu409Gln)
c.-500G>C (n.-500G>C)
Xg.108591102G=CA2450686399COL4A5c.1210G= (p.Glu404=)
n.666G=
c.886G= (p.Glu296=)
c.1225G= (p.Glu409=)
c.-500G= (n.-500G=)
Xg.108591102G>TCA413932311COL4A5c.1210G>T (p.Glu404Ter)
n.666G>T
c.886G>T (p.Glu296Ter)
c.1225G>T (p.Glu409Ter)
c.-500G>T (n.-500G>T)
Xg.108591103A>CCA413932315COL4A5c.1211A>C (p.Glu404Ala)
n.667A>C
c.887A>C (p.Glu296Ala)
c.1226A>C (p.Glu409Ala)
c.-499A>C (n.-499A>C)
Xg.108591103A>GCA413932322COL4A5c.1211A>G (p.Glu404Gly)
n.667A>G
c.887A>G (p.Glu296Gly)
c.1226A>G (p.Glu409Gly)
c.-499A>G (n.-499A>G)
 gnomAD v4
Xg.108591103A>TCA413932324COL4A5c.1211A>T (p.Glu404Val)
n.667A>T
c.887A>T (p.Glu296Val)
c.1226A>T (p.Glu409Val)
c.-499A>T (n.-499A>T)
Xg.108591105dupCA258425COL4A5c.1213dup (p.Arg405LysfsTer6)
n.669dup
c.889dup (p.Arg297LysfsTer6)
c.1228dup (p.Arg410LysfsTer6)
c.-497dup (n.-497dup)
 dbSNP
Xg.108591104A>CCA413932325COL4A5c.1212A>C (p.Glu404Asp)
n.668A>C
c.888A>C (p.Glu296Asp)
c.1227A>C (p.Glu409Asp)
c.-498A>C (n.-498A>C)
Xg.108591104A>GCA517992168COL4A5c.1212A>G (p.Glu404=)
n.668A>G
c.888A>G (p.Glu296=)
c.1227A>G (p.Glu409=)
c.-498A>G (n.-498A>G)
Xg.108591104A>TCA413932326COL4A5c.1212A>T (p.Glu404Asp)
n.668A>T
c.888A>T (p.Glu296Asp)
c.1227A>T (p.Glu409Asp)
c.-498A>T (n.-498A>T)
Xg.108591105A=CA2450686400COL4A5c.1213A= (p.Arg405=)
n.669A=
c.889A= (p.Arg297=)
c.1228A= (p.Arg410=)
c.-497A= (n.-497A=)
Xg.108591105A>CCA517992169COL4A5c.1213A>C (p.Arg405=)
n.669A>C
c.889A>C (p.Arg297=)
c.1228A>C (p.Arg410=)
c.-497A>C (n.-497A>C)
Xg.108591105A>GCA413932327COL4A5c.1213A>G (p.Arg405Gly)
n.669A>G
c.889A>G (p.Arg297Gly)
c.1228A>G (p.Arg410Gly)
c.-497A>G (n.-497A>G)
Xg.108591105A>TCA413932328COL4A5c.1213A>T (p.Arg405Trp)
n.669A>T
c.889A>T (p.Arg297Trp)
c.1228A>T (p.Arg410Trp)
c.-497A>T (n.-497A>T)
Xg.108591106G>ACA334182224COL4A5c.1214G>A (p.Arg405Lys)
n.670G>A
c.890G>A (p.Arg297Lys)
c.1229G>A (p.Arg410Lys)
c.-496G>A (n.-496G>A)
 dbSNP
Xg.108591106G>CCA413932329COL4A5c.1214G>C (p.Arg405Thr)
n.670G>C
c.890G>C (p.Arg297Thr)
c.1229G>C (p.Arg410Thr)
c.-496G>C (n.-496G>C)
 gnomAD v4
Xg.108591106G=CA2450686401COL4A5c.1214G= (p.Arg405=)
n.670G=
c.890G= (p.Arg297=)
c.1229G= (p.Arg410=)
c.-496G= (n.-496G=)
Xg.108591106G>TCA413932330COL4A5c.1214G>T (p.Arg405Met)
n.670G>T
c.890G>T (p.Arg297Met)
c.1229G>T (p.Arg410Met)
c.-496G>T (n.-496G>T)
 COSMIC
Xg.108591106_108591109dupCA334182222COL4A5c.1214_1217dup (p.Gln407GlyfsTer5)
n.670_673dup
c.890_893dup (p.Gln299GlyfsTer5)
c.1229_1232dup (p.Gln412GlyfsTer5)
c.-496_-493dup (n.-496_-493dup)
 dbSNP
Xg.108591109delCA1139771365COL4A5c.1217del (p.Gly406ValfsTer?)
n.673del
c.893del (p.Gly298ValfsTer?)
c.1232del (p.Gly411ValfsTer?)
c.-493del (n.-493del)
Xg.108591106_108591107insACA258426COL4A5c.1214_1215insA (p.Gln407SerfsTer4)
n.670_671insA
c.890_891insA (p.Gln299SerfsTer4)
c.1229_1230insA (p.Gln412SerfsTer4)
c.-496_-495insA (n.-496_-495insA)
 dbSNP
Xg.108591107G>ACA517992170COL4A5c.1215G>A (p.Arg405=)
n.671G>A
c.891G>A (p.Arg297=)
c.1230G>A (p.Arg410=)
c.-495G>A (n.-495G>A)
Xg.108591107G>CCA413932336COL4A5c.1215G>C (p.Arg405Ser)
n.671G>C
c.891G>C (p.Arg297Ser)
c.1230G>C (p.Arg410Ser)
c.-495G>C (n.-495G>C)
Xg.108591107G=CA2450686402COL4A5c.1215G= (p.Arg405=)
n.671G=
c.891G= (p.Arg297=)
c.1230G= (p.Arg410=)
c.-495G= (n.-495G=)
Xg.108591107G>TCA413932333COL4A5c.1215G>T (p.Arg405Ser)
n.671G>T
c.891G>T (p.Arg297Ser)
c.1230G>T (p.Arg410Ser)
c.-495G>T (n.-495G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108591108G>ACA261054COL4A5c.1216G>A (p.Gly406Ser)
n.672G>A
c.892G>A (p.Gly298Ser)
c.1231G>A (p.Gly411Ser)
c.-494G>A (n.-494G>A)
 dbSNP
Xg.108591108G>CCA413932350COL4A5c.1216G>C (p.Gly406Arg)
n.672G>C
c.892G>C (p.Gly298Arg)
c.1231G>C (p.Gly411Arg)
c.-494G>C (n.-494G>C)
Xg.108591108G=CA2450686403COL4A5c.1216G= (p.Gly406=)
n.672G=
c.892G= (p.Gly298=)
c.1231G= (p.Gly411=)
c.-494G= (n.-494G=)
Xg.108591108G>TCA413932352COL4A5c.1216G>T (p.Gly406Cys)
n.672G>T
c.892G>T (p.Gly298Cys)
c.1231G>T (p.Gly411Cys)
c.-494G>T (n.-494G>T)
Xg.108591109G>ACA413932356COL4A5c.1217G>A (p.Gly406Asp)
n.673G>A
c.893G>A (p.Gly298Asp)
c.1232G>A (p.Gly411Asp)
c.-493G>A (n.-493G>A)
 ClinVar dbSNP
Xg.108591109G>CCA413932358COL4A5c.1217G>C (p.Gly406Ala)
n.673G>C
c.893G>C (p.Gly298Ala)
c.1232G>C (p.Gly411Ala)
c.-493G>C (n.-493G>C)
Xg.108591109G=CA2450686404COL4A5c.1217G= (p.Gly406=)
n.673G=
c.893G= (p.Gly298=)
c.1232G= (p.Gly411=)
c.-493G= (n.-493G=)
Xg.108591109G>TCA258427COL4A5c.1217G>T (p.Gly406Val)
n.673G>T
c.893G>T (p.Gly298Val)
c.1232G>T (p.Gly411Val)
c.-493G>T (n.-493G>T)
 ClinVar dbSNP
Xg.108591110T>ACA517992171COL4A5c.1218T>A (p.Gly406=)
n.674T>A
c.894T>A (p.Gly298=)
c.1233T>A (p.Gly411=)
c.-492T>A (n.-492T>A)
Xg.108591110T>CCA517992172COL4A5c.1218T>C (p.Gly406=)
n.674T>C
c.894T>C (p.Gly298=)
c.1233T>C (p.Gly411=)
c.-492T>C (n.-492T>C)
Xg.108591110T>GCA517992173COL4A5c.1218T>G (p.Gly406=)
n.674T>G
c.894T>G (p.Gly298=)
c.1233T>G (p.Gly411=)
c.-492T>G (n.-492T>G)
Xg.108591111C>ACA413932359COL4A5c.1219C>A (p.Gln407Lys)
n.675C>A
c.895C>A (p.Gln299Lys)
c.1234C>A (p.Gln412Lys)
c.-491C>A (n.-491C>A)
Xg.108591111C=CA2450686405COL4A5c.1219C= (p.Gln407=)
n.675C=
c.895C= (p.Gln299=)
c.1234C= (p.Gln412=)
c.-491C= (n.-491C=)
Xg.108591111C>GCA413932362COL4A5c.1219C>G (p.Gln407Glu)
n.675C>G
c.895C>G (p.Gln299Glu)
c.1234C>G (p.Gln412Glu)
c.-491C>G (n.-491C>G)
Xg.108591111C>TCA258429COL4A5c.1219C>T (p.Gln407Ter)
n.675C>T
c.895C>T (p.Gln299Ter)
c.1234C>T (p.Gln412Ter)
c.-491C>T (n.-491C>T)
 dbSNP COSMIC COSMIC
Xg.108591112A>CCA413932371COL4A5c.1220A>C (p.Gln407Pro)
n.676A>C
c.896A>C (p.Gln299Pro)
c.1235A>C (p.Gln412Pro)
c.-490A>C (n.-490A>C)
Xg.108591112A>GCA413932375COL4A5c.1220A>G (p.Gln407Arg)
n.676A>G
c.896A>G (p.Gln299Arg)
c.1235A>G (p.Gln412Arg)
c.-490A>G (n.-490A>G)
Xg.108591112A>TCA413932384COL4A5c.1220A>T (p.Gln407Leu)
n.676A>T
c.896A>T (p.Gln299Leu)
c.1235A>T (p.Gln412Leu)
c.-490A>T (n.-490A>T)
Xg.108591113G>ACA517992174COL4A5c.1221G>A (p.Gln407=)
n.677G>A
c.897G>A (p.Gln299=)
c.1236G>A (p.Gln412=)
c.-489G>A (n.-489G>A)
 ClinVar
Xg.108591113G>CCA413932426COL4A5c.1221G>C (p.Gln407His)
n.677G>C
c.897G>C (p.Gln299His)
c.1236G>C (p.Gln412His)
c.-489G>C (n.-489G>C)
Xg.108591113G>TCA413932429COL4A5c.1221G>T (p.Gln407His)
n.677G>T
c.897G>T (p.Gln299His)
c.1236G>T (p.Gln412His)
c.-489G>T (n.-489G>T)
Xg.108591114A=CA2450686406COL4A5c.1222A= (p.Lys408=)
n.678A=
c.898A= (p.Lys300=)
c.1237A= (p.Lys413=)
c.-488A= (n.-488A=)
Xg.108591114A>CCA413932433COL4A5c.1222A>C (p.Lys408Gln)
n.678A>C
c.898A>C (p.Lys300Gln)
c.1237A>C (p.Lys413Gln)
c.-488A>C (n.-488A>C)
Xg.108591114A>GCA413932432COL4A5c.1222A>G (p.Lys408Glu)
n.678A>G
c.898A>G (p.Lys300Glu)
c.1237A>G (p.Lys413Glu)
c.-488A>G (n.-488A>G)
Xg.108591114A>TCA258433COL4A5c.1222A>T (p.Lys408Ter)
n.678A>T
c.898A>T (p.Lys300Ter)
c.1237A>T (p.Lys413Ter)
c.-488A>T (n.-488A>T)
 dbSNP
Xg.108591115A>CCA413932434COL4A5c.1223A>C (p.Lys408Thr)
n.679A>C
c.899A>C (p.Lys300Thr)
c.1238A>C (p.Lys413Thr)
c.-487A>C (n.-487A>C)
Xg.108591115A>GCA413932435COL4A5c.1223A>G (p.Lys408Arg)
n.679A>G
c.899A>G (p.Lys300Arg)
c.1238A>G (p.Lys413Arg)
c.-487A>G (n.-487A>G)
Xg.108591115A>TCA413932438COL4A5c.1223A>T (p.Lys408Ile)
n.679A>T
c.899A>T (p.Lys300Ile)
c.1238A>T (p.Lys413Ile)
c.-487A>T (n.-487A>T)
Xg.108591116A>CCA413932444COL4A5c.1224A>C (p.Lys408Asn)
n.680A>C
c.900A>C (p.Lys300Asn)
c.1239A>C (p.Lys413Asn)
c.-486A>C (n.-486A>C)
Xg.108591116A>GCA517992175COL4A5c.1224A>G (p.Lys408=)
n.680A>G
c.900A>G (p.Lys300=)
c.1239A>G (p.Lys413=)
c.-486A>G (n.-486A>G)
Xg.108591116A>TCA413932446COL4A5c.1224A>T (p.Lys408Asn)
n.680A>T
c.900A>T (p.Lys300Asn)
c.1239A>T (p.Lys413Asn)
c.-486A>T (n.-486A>T)
Xg.108591117G>ACA413932449COL4A5c.1225G>A (p.Gly409Ser)
n.681G>A
c.901G>A (p.Gly301Ser)
c.1240G>A (p.Gly414Ser)
c.-485G>A (n.-485G>A)
 ClinVar dbSNP
Xg.108591117G>CCA413932451COL4A5c.1225G>C (p.Gly409Arg)
n.681G>C
c.901G>C (p.Gly301Arg)
c.1240G>C (p.Gly414Arg)
c.-485G>C (n.-485G>C)
Xg.108591117G=CA2450686407COL4A5c.1225G= (p.Gly409=)
n.681G=
c.901G= (p.Gly301=)
c.1240G= (p.Gly414=)
c.-485G= (n.-485G=)
Xg.108591117G>TCA413932457COL4A5c.1225G>T (p.Gly409Cys)
n.681G>T
c.901G>T (p.Gly301Cys)
c.1240G>T (p.Gly414Cys)
c.-485G>T (n.-485G>T)
Xg.108591118G>ACA258437COL4A5c.1226G>A (p.Gly409Asp)
n.682G>A
c.902G>A (p.Gly301Asp)
c.1241G>A (p.Gly414Asp)
c.-484G>A (n.-484G>A)
 ClinVar dbSNP
Xg.108591118G>CCA413932460COL4A5c.1226G>C (p.Gly409Ala)
n.682G>C
c.902G>C (p.Gly301Ala)
c.1241G>C (p.Gly414Ala)
c.-484G>C (n.-484G>C)
 ClinVar dbSNP
Xg.108591118G=CA2450686408COL4A5c.1226G= (p.Gly409=)
n.682G=
c.902G= (p.Gly301=)
c.1241G= (p.Gly414=)
c.-484G= (n.-484G=)
Xg.108591118G>TCA413932463COL4A5c.1226G>T (p.Gly409Val)
n.682G>T
c.902G>T (p.Gly301Val)
c.1241G>T (p.Gly414Val)
c.-484G>T (n.-484G>T)
 ClinVar dbSNP
Xg.108591119T>ACA517992176COL4A5c.1227T>A (p.Gly409=)
n.683T>A
c.903T>A (p.Gly301=)
c.1242T>A (p.Gly414=)
c.-483T>A (n.-483T>A)
Xg.108591119T>CCA517992178COL4A5c.1227T>C (p.Gly409=)
n.683T>C
c.903T>C (p.Gly301=)
c.1242T>C (p.Gly414=)
c.-483T>C (n.-483T>C)
 dbSNP
Xg.108591119T>GCA517992177COL4A5c.1227T>G (p.Gly409=)
n.683T>G
c.903T>G (p.Gly301=)
c.1242T>G (p.Gly414=)
c.-483T>G (n.-483T>G)
Xg.108591119T=CA2450686409COL4A5c.1227T= (p.Gly409=)
n.683T=
c.903T= (p.Gly301=)
c.1242T= (p.Gly414=)
c.-483T= (n.-483T=)
Xg.108591120G>ACA413932466COL4A5c.1228G>A (p.Asp410Asn)
n.684G>A
c.904G>A (p.Asp302Asn)
c.1243G>A (p.Asp415Asn)
c.-482G>A (n.-482G>A)
 gnomAD v4 COSMIC COSMIC
Xg.108591120G>CCA413932469COL4A5c.1228G>C (p.Asp410His)
n.684G>C
c.904G>C (p.Asp302His)
c.1243G>C (p.Asp415His)
c.-482G>C (n.-482G>C)
Xg.108591120G>TCA413932474COL4A5c.1228G>T (p.Asp410Tyr)
n.684G>T
c.904G>T (p.Asp302Tyr)
c.1243G>T (p.Asp415Tyr)
c.-482G>T (n.-482G>T)
Xg.108591121A>CCA413932481COL4A5c.1229A>C (p.Asp410Ala)
n.685A>C
c.905A>C (p.Asp302Ala)
c.1244A>C (p.Asp415Ala)
c.-481A>C (n.-481A>C)
Xg.108591121A>GCA413932485COL4A5c.1229A>G (p.Asp410Gly)
n.685A>G
c.905A>G (p.Asp302Gly)
c.1244A>G (p.Asp415Gly)
c.-481A>G (n.-481A>G)
Xg.108591121A>TCA413932477COL4A5c.1229A>T (p.Asp410Val)
n.685A>T
c.905A>T (p.Asp302Val)
c.1244A>T (p.Asp415Val)
c.-481A>T (n.-481A>T)
Xg.108591122T>ACA413932489COL4A5c.1230T>A (p.Asp410Glu)
n.686T>A
c.906T>A (p.Asp302Glu)
c.1245T>A (p.Asp415Glu)
c.-480T>A (n.-480T>A)
Xg.108591122T>CCA517992179COL4A5c.1230T>C (p.Asp410=)
n.686T>C
c.906T>C (p.Asp302=)
c.1245T>C (p.Asp415=)
c.-480T>C (n.-480T>C)
 ClinVar dbSNP gnomAD v4
Xg.108591122T>GCA413932493COL4A5c.1230T>G (p.Asp410Glu)
n.686T>G
c.906T>G (p.Asp302Glu)
c.1245T>G (p.Asp415Glu)
c.-480T>G (n.-480T>G)
Xg.108591122T=CA2450686410COL4A5c.1230T= (p.Asp410=)
n.686T=
c.906T= (p.Asp302=)
c.1245T= (p.Asp415=)
c.-480T= (n.-480T=)
Xg.108591123G>ACA413932513COL4A5c.1231G>A (p.Glu411Lys)
n.687G>A
c.907G>A (p.Glu303Lys)
c.1246G>A (p.Glu416Lys)
c.-479G>A (n.-479G>A)
Xg.108591123G>CCA413932515COL4A5c.1231G>C (p.Glu411Gln)
n.687G>C
c.907G>C (p.Glu303Gln)
c.1246G>C (p.Glu416Gln)
c.-479G>C (n.-479G>C)
Xg.108591123G>TCA413932518COL4A5c.1231G>T (p.Glu411Ter)
n.687G>T
c.907G>T (p.Glu303Ter)
c.1246G>T (p.Glu416Ter)
c.-479G>T (n.-479G>T)
Xg.108591124A>CCA413932526COL4A5c.1232A>C (p.Glu411Ala)
n.688A>C
c.908A>C (p.Glu303Ala)
c.1247A>C (p.Glu416Ala)
c.-478A>C (n.-478A>C)
Xg.108591124A>GCA413932541COL4A5c.1232A>G (p.Glu411Gly)
n.688A>G
c.908A>G (p.Glu303Gly)
c.1247A>G (p.Glu416Gly)
c.-478A>G (n.-478A>G)
Xg.108591124A>TCA413932545COL4A5c.1232A>T (p.Glu411Val)
n.688A>T
c.908A>T (p.Glu303Val)
c.1247A>T (p.Glu416Val)
c.-478A>T (n.-478A>T)
Xg.108591125A>CCA413932548COL4A5c.1233A>C (p.Glu411Asp)
n.689A>C
c.909A>C (p.Glu303Asp)
c.1248A>C (p.Glu416Asp)
c.-477A>C (n.-477A>C)
Xg.108591125A>GCA517992180COL4A5c.1233A>G (p.Glu411=)
n.689A>G
c.909A>G (p.Glu303=)
c.1248A>G (p.Glu416=)
c.-477A>G (n.-477A>G)
Xg.108591125A>TCA413932551COL4A5c.1233A>T (p.Glu411Asp)
n.689A>T
c.909A>T (p.Glu303Asp)
c.1248A>T (p.Glu416Asp)
c.-477A>T (n.-477A>T)
Xg.108591126G>ACA413932553COL4A5c.1234G>A (p.Gly412Arg)
n.690G>A
c.910G>A (p.Gly304Arg)
c.1249G>A (p.Gly417Arg)
c.-476G>A (n.-476G>A)
 ClinVar dbSNP
Xg.108591126G>CCA413932557COL4A5c.1234G>C (p.Gly412Arg)
n.690G>C
c.910G>C (p.Gly304Arg)
c.1249G>C (p.Gly417Arg)
c.-476G>C (n.-476G>C)
 ClinVar dbSNP
Xg.108591126G=CA2450686411COL4A5c.1234G= (p.Gly412=)
n.690G=
c.910G= (p.Gly304=)
c.1249G= (p.Gly417=)
c.-476G= (n.-476G=)
Xg.108591126G>TCA413932558COL4A5c.1234G>T (p.Gly412Ter)
n.690G>T
c.910G>T (p.Gly304Ter)
c.1249G>T (p.Gly417Ter)
c.-476G>T (n.-476G>T)
Xg.108591127G>ACA413932564COL4A5c.1235G>A (p.Gly412Glu)
n.691G>A
c.911G>A (p.Gly304Glu)
c.1250G>A (p.Gly417Glu)
c.-475G>A (n.-475G>A)
 ClinVar dbSNP gnomAD v4
Xg.108591127G>CCA413932560COL4A5c.1235G>C (p.Gly412Ala)
n.691G>C
c.911G>C (p.Gly304Ala)
c.1250G>C (p.Gly417Ala)
c.-475G>C (n.-475G>C)
Xg.108591127G=CA2450686412COL4A5c.1235G= (p.Gly412=)
n.691G=
c.911G= (p.Gly304=)
c.1250G= (p.Gly417=)
c.-475G= (n.-475G=)
Xg.108591127G>TCA258439COL4A5c.1235G>T (p.Gly412Val)
n.691G>T
c.911G>T (p.Gly304Val)
c.1250G>T (p.Gly417Val)
c.-475G>T (n.-475G>T)
 dbSNP
Xg.108591128A=CA2450686413COL4A5c.1236A= (p.Gly412=)
n.692A=
c.912A= (p.Gly304=)
c.1251A= (p.Gly417=)
c.-474A= (n.-474A=)
Xg.108591128A>CCA517992181COL4A5c.1236A>C (p.Gly412=)
n.692A>C
c.912A>C (p.Gly304=)
c.1251A>C (p.Gly417=)
c.-474A>C (n.-474A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108591128A>GCA517992182COL4A5c.1236A>G (p.Gly412=)
n.692A>G
c.912A>G (p.Gly304=)
c.1251A>G (p.Gly417=)
c.-474A>G (n.-474A>G)
Xg.108591128A>TCA517992183COL4A5c.1236A>T (p.Gly412=)
n.692A>T
c.912A>T (p.Gly304=)
c.1251A>T (p.Gly417=)
c.-474A>T (n.-474A>T)
Xg.108591129C>ACA413932566COL4A5c.1237C>A (p.Pro413Thr)
n.693C>A
c.913C>A (p.Pro305Thr)
c.1252C>A (p.Pro418Thr)
c.-473C>A (n.-473C>A)
Xg.108591129C>GCA413932569COL4A5c.1237C>G (p.Pro413Ala)
n.693C>G
c.913C>G (p.Pro305Ala)
c.1252C>G (p.Pro418Ala)
c.-473C>G (n.-473C>G)
Xg.108591129C>TCA413932570COL4A5c.1237C>T (p.Pro413Ser)
n.693C>T
c.913C>T (p.Pro305Ser)
c.1252C>T (p.Pro418Ser)
c.-473C>T (n.-473C>T)
Xg.108591130C>ACA413932573COL4A5c.1238C>A (p.Pro413Gln)
n.694C>A
c.914C>A (p.Pro305Gln)
c.1253C>A (p.Pro418Gln)
c.-472C>A (n.-472C>A)
Xg.108591130C>GCA413932575COL4A5c.1238C>G (p.Pro413Arg)
n.694C>G
c.914C>G (p.Pro305Arg)
c.1253C>G (p.Pro418Arg)
c.-472C>G (n.-472C>G)
Xg.108591130C>TCA413932578COL4A5c.1238C>T (p.Pro413Leu)
n.694C>T
c.914C>T (p.Pro305Leu)
c.1253C>T (p.Pro418Leu)
c.-472C>T (n.-472C>T)
Xg.108591131A>CCA517992184COL4A5c.1239A>C (p.Pro413=)
n.695A>C
c.915A>C (p.Pro305=)
c.1254A>C (p.Pro418=)
c.-471A>C (n.-471A>C)
Xg.108591131A>GCA517992186COL4A5c.1239A>G (p.Pro413=)
n.695A>G
c.915A>G (p.Pro305=)
c.1254A>G (p.Pro418=)
c.-471A>G (n.-471A>G)
 gnomAD v4
Xg.108591131A>TCA517992185COL4A5c.1239A>T (p.Pro413=)
n.695A>T
c.915A>T (p.Pro305=)
c.1254A>T (p.Pro418=)
c.-471A>T (n.-471A>T)
Xg.108591131_108591155delinsACCTGGAATTTCCATTCCTGGACCTCA2450686414COL4A5c.1239_1263delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro413=)
n.695_719delinsACCTGGAATTTCCATTCCTGGACCT
c.915_939delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro305=)
c.1254_1278delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro418=)
c.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT (n.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT)
Xg.108591132C>ACA413932581COL4A5c.1240C>A (p.Pro414Thr)
n.696C>A
c.916C>A (p.Pro306Thr)
c.1255C>A (p.Pro419Thr)
c.-470C>A (n.-470C>A)
Xg.108591132C>GCA413932583COL4A5c.1240C>G (p.Pro414Ala)
n.696C>G
c.916C>G (p.Pro306Ala)
c.1255C>G (p.Pro419Ala)
c.-470C>G (n.-470C>G)
 gnomAD v4
Xg.108591132C>TCA413932584COL4A5c.1240C>T (p.Pro414Ser)
n.696C>T
c.916C>T (p.Pro306Ser)
c.1255C>T (p.Pro419Ser)
c.-470C>T (n.-470C>T)
Xg.108591138_108591161delCA891843923COL4A5c.1246_1269del (p.Ile416_Gly423del)
n.702_725del
c.922_945del (p.Ile308_Gly315del)
c.1261_1284del (p.Ile421_Gly428del)
c.-464_-441del (n.-464_-441del)
Xg.108591133C>ACA413932587COL4A5c.1241C>A (p.Pro414His)
n.697C>A
c.917C>A (p.Pro306His)
c.1256C>A (p.Pro419His)
c.-469C>A (n.-469C>A)
Xg.108591133C>GCA413932589COL4A5c.1241C>G (p.Pro414Arg)
n.697C>G
c.917C>G (p.Pro306Arg)
c.1256C>G (p.Pro419Arg)
c.-469C>G (n.-469C>G)
Xg.108591133C>TCA413932597COL4A5c.1241C>T (p.Pro414Leu)
n.697C>T
c.917C>T (p.Pro306Leu)
c.1256C>T (p.Pro419Leu)
c.-469C>T (n.-469C>T)
Xg.108591134T>ACA517992187COL4A5c.1242T>A (p.Pro414=)
n.698T>A
c.918T>A (p.Pro306=)
c.1257T>A (p.Pro419=)
c.-468T>A (n.-468T>A)
Xg.108591134T>CCA517992188COL4A5c.1242T>C (p.Pro414=)
n.698T>C
c.918T>C (p.Pro306=)
c.1257T>C (p.Pro419=)
c.-468T>C (n.-468T>C)
 COSMIC COSMIC
Xg.108591134T>GCA517992189COL4A5c.1242T>G (p.Pro414=)
n.698T>G
c.918T>G (p.Pro306=)
c.1257T>G (p.Pro419=)
c.-468T>G (n.-468T>G)
 gnomAD v4
Xg.108591135G>ACA258441COL4A5c.1243G>A (p.Gly415Arg)
n.699G>A
c.919G>A (p.Gly307Arg)
c.1258G>A (p.Gly420Arg)
c.-467G>A (n.-467G>A)
 dbSNP
Xg.108591135G>CCA413932605COL4A5c.1243G>C (p.Gly415Arg)
n.699G>C
c.919G>C (p.Gly307Arg)
c.1258G>C (p.Gly420Arg)
c.-467G>C (n.-467G>C)
Xg.108591135G=CA2450686415COL4A5c.1243G= (p.Gly415=)
n.699G=
c.919G= (p.Gly307=)
c.1258G= (p.Gly420=)
c.-467G= (n.-467G=)
Xg.108591135G>TCA413932603COL4A5c.1243G>T (p.Gly415Ter)
n.699G>T
c.919G>T (p.Gly307Ter)
c.1258G>T (p.Gly420Ter)
c.-467G>T (n.-467G>T)
Xg.108591136G>ACA413932611COL4A5c.1244G>A (p.Gly415Glu)
n.700G>A
c.920G>A (p.Gly307Glu)
c.1259G>A (p.Gly420Glu)
c.-466G>A (n.-466G>A)
Xg.108591136G>CCA413932613COL4A5c.1244G>C (p.Gly415Ala)
n.700G>C
c.920G>C (p.Gly307Ala)
c.1259G>C (p.Gly420Ala)
c.-466G>C (n.-466G>C)
Xg.108591136G>TCA413932612COL4A5c.1244G>T (p.Gly415Val)
n.700G>T
c.920G>T (p.Gly307Val)
c.1259G>T (p.Gly420Val)
c.-466G>T (n.-466G>T)
 COSMIC COSMIC
Xg.108591137A>CCA517992190COL4A5c.1245A>C (p.Gly415=)
n.701A>C
c.921A>C (p.Gly307=)
c.1260A>C (p.Gly420=)
c.-465A>C (n.-465A>C)
Xg.108591137A>GCA517992191COL4A5c.1245A>G (p.Gly415=)
n.701A>G
c.921A>G (p.Gly307=)
c.1260A>G (p.Gly420=)
c.-465A>G (n.-465A>G)
Xg.108591137A>TCA517992192COL4A5c.1245A>T (p.Gly415=)
n.701A>T
c.921A>T (p.Gly307=)
c.1260A>T (p.Gly420=)
c.-465A>T (n.-465A>T)
Xg.108591138A=CA2450686416COL4A5c.1246A= (p.Ile416=)
n.702A=
c.922A= (p.Ile308=)
c.1261A= (p.Ile421=)
c.-464A= (n.-464A=)
Xg.108591138A>CCA413932614COL4A5c.1246A>C (p.Ile416Leu)
n.702A>C
c.922A>C (p.Ile308Leu)
c.1261A>C (p.Ile421Leu)
c.-464A>C (n.-464A>C)
Xg.108591138A>GCA413932615COL4A5c.1246A>G (p.Ile416Val)
n.702A>G
c.922A>G (p.Ile308Val)
c.1261A>G (p.Ile421Val)
c.-464A>G (n.-464A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108591138A>TCA413932617COL4A5c.1246A>T (p.Ile416Phe)
n.702A>T
c.922A>T (p.Ile308Phe)
c.1261A>T (p.Ile421Phe)
c.-464A>T (n.-464A>T)
Xg.108591139T>ACA413932619COL4A5c.1247T>A (p.Ile416Asn)
n.703T>A
c.923T>A (p.Ile308Asn)
c.1262T>A (p.Ile421Asn)
c.-463T>A (n.-463T>A)
Xg.108591139T>CCA413932623COL4A5c.1247T>C (p.Ile416Thr)
n.703T>C
c.923T>C (p.Ile308Thr)
c.1262T>C (p.Ile421Thr)
c.-463T>C (n.-463T>C)
Xg.108591139T>GCA413932626COL4A5c.1247T>G (p.Ile416Ser)
n.703T>G
c.923T>G (p.Ile308Ser)
c.1262T>G (p.Ile421Ser)
c.-463T>G (n.-463T>G)
Xg.108591141_108591164dupCA2450686417COL4A5c.1249_1272dup (p.Leu424_Asp425insSerIleProGlyProProGlyLeu)
n.705_728dup
c.925_948dup (p.Leu316_Asp317insSerIleProGlyProProGlyLeu)
c.1264_1287dup (p.Leu429_Asp430insSerIleProGlyProProGlyLeu)
c.-461_-438dup (n.-461_-438dup)
 ClinVar dbSNP
Xg.108591140T>ACA517992193COL4A5c.1248T>A (p.Ile416=)
n.704T>A
c.924T>A (p.Ile308=)
c.1263T>A (p.Ile421=)
c.-462T>A (n.-462T>A)
Xg.108591140T>CCA517992194COL4A5c.1248T>C (p.Ile416=)
n.704T>C
c.924T>C (p.Ile308=)
c.1263T>C (p.Ile421=)
c.-462T>C (n.-462T>C)
Xg.108591140T>GCA413932627COL4A5c.1248T>G (p.Ile416Met)
n.704T>G
c.924T>G (p.Ile308Met)
c.1263T>G (p.Ile421Met)
c.-462T>G (n.-462T>G)
Xg.108591141T>ACA413932631COL4A5c.1249T>A (p.Ser417Thr)
n.705T>A
c.925T>A (p.Ser309Thr)
c.1264T>A (p.Ser422Thr)
c.-461T>A (n.-461T>A)
Xg.108591141T>CCA413932632COL4A5c.1249T>C (p.Ser417Pro)
n.705T>C
c.925T>C (p.Ser309Pro)
c.1264T>C (p.Ser422Pro)
c.-461T>C (n.-461T>C)
Xg.108591141T>GCA413932634COL4A5c.1249T>G (p.Ser417Ala)
n.705T>G
c.925T>G (p.Ser309Ala)
c.1264T>G (p.Ser422Ala)
c.-461T>G (n.-461T>G)
Xg.108591142C>ACA413932638COL4A5c.1250C>A (p.Ser417Tyr)
n.706C>A
c.926C>A (p.Ser309Tyr)
c.1265C>A (p.Ser422Tyr)
c.-460C>A (n.-460C>A)
Xg.108591142C>GCA413932637COL4A5c.1250C>G (p.Ser417Cys)
n.706C>G
c.926C>G (p.Ser309Cys)
c.1265C>G (p.Ser422Cys)
c.-460C>G (n.-460C>G)
Xg.108591142C>TCA413932636COL4A5c.1250C>T (p.Ser417Phe)
n.706C>T
c.926C>T (p.Ser309Phe)
c.1265C>T (p.Ser422Phe)
c.-460C>T (n.-460C>T)
 gnomAD v4 COSMIC
Xg.108591143C>ACA517992195COL4A5c.1251C>A (p.Ser417=)
n.707C>A
c.927C>A (p.Ser309=)
c.1266C>A (p.Ser422=)
c.-459C>A (n.-459C>A)
 gnomAD v4
Xg.108591143C>GCA517992196COL4A5c.1251C>G (p.Ser417=)
n.707C>G
c.927C>G (p.Ser309=)
c.1266C>G (p.Ser422=)
c.-459C>G (n.-459C>G)
Xg.108591143C>TCA517992197COL4A5c.1251C>T (p.Ser417=)
n.707C>T
c.927C>T (p.Ser309=)
c.1266C>T (p.Ser422=)
c.-459C>T (n.-459C>T)
 COSMIC COSMIC
Xg.108591144A>CCA413932640COL4A5c.1252A>C (p.Ile418Leu)
n.708A>C
c.928A>C (p.Ile310Leu)
c.1267A>C (p.Ile423Leu)
c.-458A>C (n.-458A>C)
Xg.108591144A>GCA413932642COL4A5c.1252A>G (p.Ile418Val)
n.708A>G
c.928A>G (p.Ile310Val)
c.1267A>G (p.Ile423Val)
c.-458A>G (n.-458A>G)
Xg.108591144A>TCA413932644COL4A5c.1252A>T (p.Ile418Phe)
n.708A>T
c.928A>T (p.Ile310Phe)
c.1267A>T (p.Ile423Phe)
c.-458A>T (n.-458A>T)
Xg.108591144_108591145delinsATCA2450686418COL4A5c.1252_1253delinsAT (p.Ile418=)
n.708_709delinsAT
c.928_929delinsAT (p.Ile310=)
c.1267_1268delinsAT (p.Ile423=)
c.-458_-457delinsAT (n.-458_-457delinsAT)
Xg.108591145T>ACA413932646COL4A5c.1253T>A (p.Ile418Asn)
n.709T>A
c.929T>A (p.Ile310Asn)
c.1268T>A (p.Ile423Asn)
c.-457T>A (n.-457T>A)
Xg.108591145T>CCA413932649COL4A5c.1253T>C (p.Ile418Thr)
n.709T>C
c.929T>C (p.Ile310Thr)
c.1268T>C (p.Ile423Thr)
c.-457T>C (n.-457T>C)
Xg.108591145T>GCA413932655COL4A5c.1253T>G (p.Ile418Ser)
n.709T>G
c.929T>G (p.Ile310Ser)
c.1268T>G (p.Ile423Ser)
c.-457T>G (n.-457T>G)
Xg.108591146delCA258443COL4A5c.1254del (p.Pro419LeufsTer?)
n.710del
c.930del (p.Pro311LeufsTer?)
c.1269del (p.Pro424LeufsTer?)
c.-456del (n.-456del)
 dbSNP
Xg.108591146T>ACA517992198COL4A5c.1254T>A (p.Ile418=)
n.710T>A
c.930T>A (p.Ile310=)
c.1269T>A (p.Ile423=)
c.-456T>A (n.-456T>A)
Xg.108591146T>CCA517992199COL4A5c.1254T>C (p.Ile418=)
n.710T>C
c.930T>C (p.Ile310=)
c.1269T>C (p.Ile423=)
c.-456T>C (n.-456T>C)
 ClinVar dbSNP
Xg.108591146T>GCA413932659COL4A5c.1254T>G (p.Ile418Met)
n.710T>G
c.930T>G (p.Ile310Met)
c.1269T>G (p.Ile423Met)
c.-456T>G (n.-456T>G)
Xg.108591147C>ACA413932661COL4A5c.1255C>A (p.Pro419Thr)
n.711C>A
c.931C>A (p.Pro311Thr)
c.1270C>A (p.Pro424Thr)
c.-455C>A (n.-455C>A)
Xg.108591147C>GCA413932662COL4A5c.1255C>G (p.Pro419Ala)
n.711C>G
c.931C>G (p.Pro311Ala)
c.1270C>G (p.Pro424Ala)
c.-455C>G (n.-455C>G)
Xg.108591147C>TCA413932663COL4A5c.1255C>T (p.Pro419Ser)
n.711C>T
c.931C>T (p.Pro311Ser)
c.1270C>T (p.Pro424Ser)
c.-455C>T (n.-455C>T)
Xg.108591148C>ACA413932666COL4A5c.1256C>A (p.Pro419His)
n.712C>A
c.932C>A (p.Pro311His)
c.1271C>A (p.Pro424His)
c.-454C>A (n.-454C>A)
Xg.108591148C>GCA413932670COL4A5c.1256C>G (p.Pro419Arg)
n.712C>G
c.932C>G (p.Pro311Arg)
c.1271C>G (p.Pro424Arg)
c.-454C>G (n.-454C>G)
Xg.108591148C>TCA413932665COL4A5c.1256C>T (p.Pro419Leu)
n.712C>T
c.932C>T (p.Pro311Leu)
c.1271C>T (p.Pro424Leu)
c.-454C>T (n.-454C>T)
 gnomAD v4
Xg.108591149T>ACA517992200COL4A5c.1257T>A (p.Pro419=)
n.713T>A
c.933T>A (p.Pro311=)
c.1272T>A (p.Pro424=)
c.-453T>A (n.-453T>A)
Xg.108591149T>CCA517992201COL4A5c.1257T>C (p.Pro419=)
n.713T>C
c.933T>C (p.Pro311=)
c.1272T>C (p.Pro424=)
c.-453T>C (n.-453T>C)
Xg.108591149T>GCA517992202COL4A5c.1257T>G (p.Pro419=)
n.713T>G
c.933T>G (p.Pro311=)
c.1272T>G (p.Pro424=)
c.-453T>G (n.-453T>G)
 ClinVar
Xg.108591150G>ACA413932671COL4A5c.1258G>A (p.Gly420Arg)
n.714G>A
c.934G>A (p.Gly312Arg)
c.1273G>A (p.Gly425Arg)
c.-452G>A (n.-452G>A)
 ClinVar dbSNP
Xg.108591150G>CCA413932672COL4A5c.1258G>C (p.Gly420Arg)
n.714G>C
c.934G>C (p.Gly312Arg)
c.1273G>C (p.Gly425Arg)
c.-452G>C (n.-452G>C)
Xg.108591150G=CA2450686419COL4A5c.1258G= (p.Gly420=)
n.714G=
c.934G= (p.Gly312=)
c.1273G= (p.Gly425=)
c.-452G= (n.-452G=)
Xg.108591150G>TCA413932675COL4A5c.1258G>T (p.Gly420Ter)
n.714G>T
c.934G>T (p.Gly312Ter)
c.1273G>T (p.Gly425Ter)
c.-452G>T (n.-452G>T)
Xg.108591151delCA2579676150COL4A5c.1259del (p.Gly420AspfsTer?)
n.715del
c.935del (p.Gly312AspfsTer?)
c.1274del (p.Gly425AspfsTer?)
c.-451del (n.-451del)
Xg.108591151G>ACA258444COL4A5c.1259G>A (p.Gly420Glu)
n.715G>A
c.935G>A (p.Gly312Glu)
c.1274G>A (p.Gly425Glu)
c.-451G>A (n.-451G>A)
 dbSNP
Xg.108591151G>CCA413932684COL4A5c.1259G>C (p.Gly420Ala)
n.715G>C
c.935G>C (p.Gly312Ala)
c.1274G>C (p.Gly425Ala)
c.-451G>C (n.-451G>C)
Xg.108591151G=CA2450686420COL4A5c.1259G= (p.Gly420=)
n.715G=
c.935G= (p.Gly312=)
c.1274G= (p.Gly425=)
c.-451G= (n.-451G=)
Xg.108591151G>TCA413932686COL4A5c.1259G>T (p.Gly420Val)
n.715G>T
c.935G>T (p.Gly312Val)
c.1274G>T (p.Gly425Val)
c.-451G>T (n.-451G>T)
 ClinVar dbSNP
Xg.108591152A>CCA517992203COL4A5c.1260A>C (p.Gly420=)
n.716A>C
c.936A>C (p.Gly312=)
c.1275A>C (p.Gly425=)
c.-450A>C (n.-450A>C)
Xg.108591152A>GCA517992204COL4A5c.1260A>G (p.Gly420=)
n.716A>G
c.936A>G (p.Gly312=)
c.1275A>G (p.Gly425=)
c.-450A>G (n.-450A>G)
Xg.108591152A>TCA517992205COL4A5c.1260A>T (p.Gly420=)
n.716A>T
c.936A>T (p.Gly312=)
c.1275A>T (p.Gly425=)
c.-450A>T (n.-450A>T)
Xg.108591153C>ACA413932696COL4A5c.1261C>A (p.Pro421Thr)
n.717C>A
c.937C>A (p.Pro313Thr)
c.1276C>A (p.Pro426Thr)
c.-449C>A (n.-449C>A)
Xg.108591153C>GCA413932702COL4A5c.1261C>G (p.Pro421Ala)
n.717C>G
c.937C>G (p.Pro313Ala)
c.1276C>G (p.Pro426Ala)
c.-449C>G (n.-449C>G)
Xg.108591153C>TCA413932714COL4A5c.1261C>T (p.Pro421Ser)
n.717C>T
c.937C>T (p.Pro313Ser)
c.1276C>T (p.Pro426Ser)
c.-449C>T (n.-449C>T)
Xg.108591154C>ACA413932733COL4A5c.1262C>A (p.Pro421His)
n.718C>A
c.938C>A (p.Pro313His)
c.1277C>A (p.Pro426His)
c.-448C>A (n.-448C>A)
Xg.108591154C>GCA413932735COL4A5c.1262C>G (p.Pro421Arg)
n.718C>G
c.938C>G (p.Pro313Arg)
c.1277C>G (p.Pro426Arg)
c.-448C>G (n.-448C>G)
Xg.108591154C>TCA413932739COL4A5c.1262C>T (p.Pro421Leu)
n.718C>T
c.938C>T (p.Pro313Leu)
c.1277C>T (p.Pro426Leu)
c.-448C>T (n.-448C>T)
Xg.108591155T>ACA517992206COL4A5c.1263T>A (p.Pro421=)
n.719T>A
c.939T>A (p.Pro313=)
c.1278T>A (p.Pro426=)
c.-447T>A (n.-447T>A)
Xg.108591155T>CCA517992207COL4A5c.1263T>C (p.Pro421=)
n.719T>C
c.939T>C (p.Pro313=)
c.1278T>C (p.Pro426=)
c.-447T>C (n.-447T>C)
Xg.108591155T>GCA517992208COL4A5c.1263T>G (p.Pro421=)
n.719T>G
c.939T>G (p.Pro313=)
c.1278T>G (p.Pro426=)
c.-447T>G (n.-447T>G)
 COSMIC COSMIC
Xg.108591155_108591156delinsTCCA2450686421COL4A5c.1263_1264delinsTC (p.Pro421=)
n.719_720delinsTC
c.939_940delinsTC (p.Pro313=)
c.1278_1279delinsTC (p.Pro426=)
c.-447_-446delinsTC (n.-447_-446delinsTC)
Xg.108591156C>ACA413932762COL4A5c.1264C>A (p.Pro422Thr)
n.720C>A
c.940C>A (p.Pro314Thr)
c.1279C>A (p.Pro427Thr)
c.-446C>A (n.-446C>A)
Xg.108591156C=CA2450686422COL4A5c.1264C= (p.Pro422=)
n.720C=
c.940C= (p.Pro314=)
c.1279C= (p.Pro427=)
c.-446C= (n.-446C=)
Xg.108591156C>GCA10488699COL4A5c.1264C>G (p.Pro422Ala)
n.720C>G
c.940C>G (p.Pro314Ala)
c.1279C>G (p.Pro427Ala)
c.-446C>G (n.-446C>G)
 dbSNP ExAC
Xg.108591156C>TCA413932742COL4A5c.1264C>T (p.Pro422Ser)
n.720C>T
c.940C>T (p.Pro314Ser)
c.1279C>T (p.Pro427Ser)
c.-446C>T (n.-446C>T)
Xg.108591157delCA258446COL4A5c.1265del (p.Pro422LeufsTer?)
n.721del
c.941del (p.Pro314LeufsTer?)
c.1280del (p.Pro427LeufsTer?)
c.-445del (n.-445del)
 dbSNP
Xg.108591157C>ACA413932770COL4A5c.1265C>A (p.Pro422His)
n.721C>A
c.941C>A (p.Pro314His)
c.1280C>A (p.Pro427His)
c.-445C>A (n.-445C>A)
Xg.108591157C>GCA413932774COL4A5c.1265C>G (p.Pro422Arg)
n.721C>G
c.941C>G (p.Pro314Arg)
c.1280C>G (p.Pro427Arg)
c.-445C>G (n.-445C>G)
Xg.108591157C>TCA413932779COL4A5c.1265C>T (p.Pro422Leu)
n.721C>T
c.941C>T (p.Pro314Leu)
c.1280C>T (p.Pro427Leu)
c.-445C>T (n.-445C>T)
Xg.108591158T>ACA517992209COL4A5c.1266T>A (p.Pro422=)
n.722T>A
c.942T>A (p.Pro314=)
c.1281T>A (p.Pro427=)
c.-444T>A (n.-444T>A)
Xg.108591158T>CCA517992210COL4A5c.1266T>C (p.Pro422=)
n.722T>C
c.942T>C (p.Pro314=)
c.1281T>C (p.Pro427=)
c.-444T>C (n.-444T>C)
Xg.108591158T>GCA517992211COL4A5c.1266T>G (p.Pro422=)
n.722T>G
c.942T>G (p.Pro314=)
c.1281T>G (p.Pro427=)
c.-444T>G (n.-444T>G)
Xg.108591159G>ACA413932782COL4A5c.1267G>A (p.Gly423Arg)
n.723G>A
c.943G>A (p.Gly315Arg)
c.1282G>A (p.Gly428Arg)
c.-443G>A (n.-443G>A)
Xg.108591159G>CCA413932784COL4A5c.1267G>C (p.Gly423Arg)
n.723G>C
c.943G>C (p.Gly315Arg)
c.1282G>C (p.Gly428Arg)
c.-443G>C (n.-443G>C)
Xg.108591159G>TCA413932787COL4A5c.1267G>T (p.Gly423Ter)
n.723G>T
c.943G>T (p.Gly315Ter)
c.1282G>T (p.Gly428Ter)
c.-443G>T (n.-443G>T)
 ClinVar
Xg.108591160G>ACA258447COL4A5c.1268G>A (p.Gly423Glu)
n.724G>A
c.944G>A (p.Gly315Glu)
c.1283G>A (p.Gly428Glu)
c.-442G>A (n.-442G>A)
 dbSNP gnomAD v4
Xg.108591160G>CCA413932790COL4A5c.1268G>C (p.Gly423Ala)
n.724G>C
c.944G>C (p.Gly315Ala)
c.1283G>C (p.Gly428Ala)
c.-442G>C (n.-442G>C)
Xg.108591160G=CA2450686423COL4A5c.1268G= (p.Gly423=)
n.724G=
c.944G= (p.Gly315=)
c.1283G= (p.Gly428=)
c.-442G= (n.-442G=)
Xg.108591160G>TCA413932792COL4A5c.1268G>T (p.Gly423Val)
n.724G>T
c.944G>T (p.Gly315Val)
c.1283G>T (p.Gly428Val)
c.-442G>T (n.-442G>T)
Xg.108591161A>CCA517992212COL4A5c.1269A>C (p.Gly423=)
n.725A>C
c.945A>C (p.Gly315=)
c.1284A>C (p.Gly428=)
c.-441A>C (n.-441A>C)
Xg.108591161A>GCA517992214COL4A5c.1269A>G (p.Gly423=)
n.725A>G
c.945A>G (p.Gly315=)
c.1284A>G (p.Gly428=)
c.-441A>G (n.-441A>G)
Xg.108591161A>TCA517992213COL4A5c.1269A>T (p.Gly423=)
n.725A>T
c.945A>T (p.Gly315=)
c.1284A>T (p.Gly428=)
c.-441A>T (n.-441A>T)
Xg.108591162C>ACA413932795COL4A5c.1270C>A (p.Leu424Ile)
n.726C>A
c.946C>A (p.Leu316Ile)
c.1285C>A (p.Leu429Ile)
c.-440C>A (n.-440C>A)
Xg.108591162C>GCA413932807COL4A5c.1270C>G (p.Leu424Val)
n.726C>G
c.946C>G (p.Leu316Val)
c.1285C>G (p.Leu429Val)
c.-440C>G (n.-440C>G)
Xg.108591162C>TCA413932811COL4A5c.1270C>T (p.Leu424Phe)
n.726C>T
c.946C>T (p.Leu316Phe)
c.1285C>T (p.Leu429Phe)
c.-440C>T (n.-440C>T)
Xg.108591163T>ACA413932819COL4A5c.1271T>A (p.Leu424His)
n.727T>A
c.947T>A (p.Leu316His)
c.1286T>A (p.Leu429His)
c.-439T>A (n.-439T>A)
Xg.108591163T>CCA413932815COL4A5c.1271T>C (p.Leu424Pro)
n.727T>C
c.947T>C (p.Leu316Pro)
c.1286T>C (p.Leu429Pro)
c.-439T>C (n.-439T>C)
Xg.108591163T>GCA413932814COL4A5c.1271T>G (p.Leu424Arg)
n.727T>G
c.947T>G (p.Leu316Arg)
c.1286T>G (p.Leu429Arg)
c.-439T>G (n.-439T>G)
Xg.108591164T>ACA517992215COL4A5c.1272T>A (p.Leu424=)
n.728T>A
c.948T>A (p.Leu316=)
c.1287T>A (p.Leu429=)
c.-438T>A (n.-438T>A)
Xg.108591164T>CCA517992216COL4A5c.1272T>C (p.Leu424=)
n.728T>C
c.948T>C (p.Leu316=)
c.1287T>C (p.Leu429=)
c.-438T>C (n.-438T>C)
Xg.108591164T>GCA517992217COL4A5c.1272T>G (p.Leu424=)
n.728T>G
c.948T>G (p.Leu316=)
c.1287T>G (p.Leu429=)
c.-438T>G (n.-438T>G)
Xg.108591165G>ACA413932823COL4A5c.1273G>A (p.Asp425Asn)
n.729G>A
c.949G>A (p.Asp317Asn)
c.1288G>A (p.Asp430Asn)
c.-437G>A (n.-437G>A)
Xg.108591165G>CCA413932827COL4A5c.1273G>C (p.Asp425His)
n.729G>C
c.949G>C (p.Asp317His)
c.1288G>C (p.Asp430His)
c.-437G>C (n.-437G>C)
Xg.108591165G>TCA413932826COL4A5c.1273G>T (p.Asp425Tyr)
n.729G>T
c.949G>T (p.Asp317Tyr)
c.1288G>T (p.Asp430Tyr)
c.-437G>T (n.-437G>T)
Xg.108591166A>CCA413932828COL4A5c.1274A>C (p.Asp425Ala)
n.730A>C
c.950A>C (p.Asp317Ala)
c.1289A>C (p.Asp430Ala)
c.-436A>C (n.-436A>C)
Xg.108591166A>GCA413932830COL4A5c.1274A>G (p.Asp425Gly)
n.730A>G
c.950A>G (p.Asp317Gly)
c.1289A>G (p.Asp430Gly)
c.-436A>G (n.-436A>G)
Xg.108591166A>TCA413932833COL4A5c.1274A>T (p.Asp425Val)
n.730A>T
c.950A>T (p.Asp317Val)
c.1289A>T (p.Asp430Val)
c.-436A>T (n.-436A>T)
Xg.108591167C>ACA413932836COL4A5c.1275C>A (p.Asp425Glu)
n.731C>A
c.951C>A (p.Asp317Glu)
c.1290C>A (p.Asp430Glu)
c.-435C>A (n.-435C>A)
Xg.108591167C=CA2450686424COL4A5c.1275C= (p.Asp425=)
n.731C=
c.951C= (p.Asp317=)
c.1290C= (p.Asp430=)
c.-435C= (n.-435C=)
Xg.108591167C>GCA413932841COL4A5c.1275C>G (p.Asp425Glu)
n.731C>G
c.951C>G (p.Asp317Glu)
c.1290C>G (p.Asp430Glu)
c.-435C>G (n.-435C>G)
Xg.108591167C>TCA10488700COL4A5c.1275C>T (p.Asp425=)
n.731C>T
c.951C>T (p.Asp317=)
c.1290C>T (p.Asp430=)
c.-435C>T (n.-435C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108591168G>ACA258449COL4A5c.1276G>A (p.Gly426Arg)
n.732G>A
c.952G>A (p.Gly318Arg)
c.1291G>A (p.Gly431Arg)
c.-434G>A (n.-434G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108591168G>CCA413932850COL4A5c.1276G>C (p.Gly426Arg)
n.732G>C
c.952G>C (p.Gly318Arg)
c.1291G>C (p.Gly431Arg)
c.-434G>C (n.-434G>C)
Xg.108591168G=CA2450686425COL4A5c.1276G= (p.Gly426=)
n.732G=
c.952G= (p.Gly318=)
c.1291G= (p.Gly431=)
c.-434G= (n.-434G=)
Xg.108591168G>TCA413932856COL4A5c.1276G>T (p.Gly426Ter)
n.732G>T
c.952G>T (p.Gly318Ter)
c.1291G>T (p.Gly431Ter)
c.-434G>T (n.-434G>T)
 ClinVar dbSNP
Xg.108591169dupCA2695235602COL4A5c.1277dup (p.Gln427ThrfsTer21)
n.733dup
c.953dup (p.Gln319ThrfsTer21)
c.1292dup (p.Gln432ThrfsTer21)
c.-433dup (n.-433dup)
Xg.108591169G>ACA413932860COL4A5c.1277G>A (p.Gly426Glu)
n.733G>A
c.953G>A (p.Gly318Glu)
c.1292G>A (p.Gly431Glu)
c.-433G>A (n.-433G>A)
Xg.108591169G>CCA413932862COL4A5c.1277G>C (p.Gly426Ala)
n.733G>C
c.953G>C (p.Gly318Ala)
c.1292G>C (p.Gly431Ala)
c.-433G>C (n.-433G>C)
Xg.108591169G>TCA413932875COL4A5c.1277G>T (p.Gly426Val)
n.733G>T
c.953G>T (p.Gly318Val)
c.1292G>T (p.Gly431Val)
c.-433G>T (n.-433G>T)
Xg.108591170A>CCA517992218COL4A5c.1278A>C (p.Gly426=)
n.734A>C
c.954A>C (p.Gly318=)
c.1293A>C (p.Gly431=)
c.-432A>C (n.-432A>C)
Xg.108591170A>GCA517992219COL4A5c.1278A>G (p.Gly426=)
n.734A>G
c.954A>G (p.Gly318=)
c.1293A>G (p.Gly431=)
c.-432A>G (n.-432A>G)
Xg.108591170A>TCA517992220COL4A5c.1278A>T (p.Gly426=)
n.734A>T
c.954A>T (p.Gly318=)
c.1293A>T (p.Gly431=)
c.-432A>T (n.-432A>T)
 ClinVar
Xg.108591171C>ACA413932878COL4A5c.1279C>A (p.Gln427Lys)
n.735C>A
c.955C>A (p.Gln319Lys)
c.1294C>A (p.Gln432Lys)
c.-431C>A (n.-431C>A)
Xg.108591171C=CA2450686426COL4A5c.1279C= (p.Gln427=)
n.735C=
c.955C= (p.Gln319=)
c.1294C= (p.Gln432=)
c.-431C= (n.-431C=)
Xg.108591171C>GCA413932876COL4A5c.1279C>G (p.Gln427Glu)
n.735C>G
c.955C>G (p.Gln319Glu)
c.1294C>G (p.Gln432Glu)
c.-431C>G (n.-431C>G)
Xg.108591171C>TCA413932877COL4A5c.1279C>T (p.Gln427Ter)
n.735C>T
c.955C>T (p.Gln319Ter)
c.1294C>T (p.Gln432Ter)
c.-431C>T (n.-431C>T)
Xg.108591172A=CA2580701028COL4A5c.1280A= (p.Gln427=)
n.736A=
c.956A= (p.Gln319=)
c.1295A= (p.Gln432=)
c.-430A= (n.-430A=)
Xg.108591172A>CCA413932879COL4A5c.1280A>C (p.Gln427Pro)
n.736A>C
c.956A>C (p.Gln319Pro)
c.1295A>C (p.Gln432Pro)
c.-430A>C (n.-430A>C)
Xg.108591172A>GCA413932881COL4A5c.1280A>G (p.Gln427Arg)
n.736A>G
c.956A>G (p.Gln319Arg)
c.1295A>G (p.Gln432Arg)
c.-430A>G (n.-430A>G)
Xg.108591172A>TCA413932883COL4A5c.1280A>T (p.Gln427Leu)
n.736A>T
c.956A>T (p.Gln319Leu)
c.1295A>T (p.Gln432Leu)
c.-430A>T (n.-430A>T)
Xg.108591172dupCA258452COL4A5c.1280dup (p.Pro428AlafsTer20)
n.736dup
c.956dup (p.Pro320AlafsTer20)
c.1295dup (p.Pro433AlafsTer20)
c.-430dup (n.-430dup)
 dbSNP
Xg.108591173G>ACA517992221COL4A5c.1281G>A (p.Gln427=)
n.737G>A
c.957G>A (p.Gln319=)
c.1296G>A (p.Gln432=)
c.-429G>A (n.-429G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108591173G>CCA413932886COL4A5c.1281G>C (p.Gln427His)
n.737G>C
c.957G>C (p.Gln319His)
c.1296G>C (p.Gln432His)
c.-429G>C (n.-429G>C)
Xg.108591173G=CA2450686427COL4A5c.1281G= (p.Gln427=)
n.737G=
c.957G= (p.Gln319=)
c.1296G= (p.Gln432=)
c.-429G= (n.-429G=)
Xg.108591173G>TCA413932890COL4A5c.1281G>T (p.Gln427His)
n.737G>T
c.957G>T (p.Gln319His)
c.1296G>T (p.Gln432His)
c.-429G>T (n.-429G>T)
Xg.108591174C>ACA413932892COL4A5c.1282C>A (p.Pro428Thr)
n.738C>A
c.958C>A (p.Pro320Thr)
c.1297C>A (p.Pro433Thr)
c.-428C>A (n.-428C>A)
Xg.108591174C>GCA413932897COL4A5c.1282C>G (p.Pro428Ala)
n.738C>G
c.958C>G (p.Pro320Ala)
c.1297C>G (p.Pro433Ala)
c.-428C>G (n.-428C>G)
Xg.108591174C>TCA413932900COL4A5c.1282C>T (p.Pro428Ser)
n.738C>T
c.958C>T (p.Pro320Ser)
c.1297C>T (p.Pro433Ser)
c.-428C>T (n.-428C>T)

Number of alleles fetched