Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108668320_108668505delCA2695235652COL4A5c.3606_3790+1del
c.3282_3466+1del
c.1179_1363+1del
c.3621_3805+1del
c.1941_2125+1del
Xg.108668367_108668439delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCCA2450712935COL4A5c.3653_3725delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1218=)
c.3329_3401delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1110=)
c.1226_1298delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu409=)
c.3668_3740delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1223=)
c.1988_2060delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu663=)
Xg.108668371_108668442delCA258920COL4A5c.3657_3728del (p.Gly1220_Pro1243del)
c.3333_3404del (p.Gly1112_Pro1135del)
c.1230_1301del (p.Gly411_Pro434del)
c.3672_3743del (p.Gly1225_Pro1248del)
c.1992_2063del (p.Gly665_Pro688del)
 dbSNP
Xg.108668422_108668448delCA2695235655COL4A5c.3708_3734del (p.Pro1237_Pro1245del)
c.3384_3410del (p.Pro1129_Pro1137del)
c.1281_1307del (p.Pro428_Pro436del)
c.3723_3749del (p.Pro1242_Pro1250del)
c.2043_2069del (p.Pro682_Pro690del)
Xg.108668419_108668436delinsTCCCCCAGGCCCTCCTGGCA2450712957COL4A5c.3705_3722delinsTCCCCCAGGCCCTCCTGG (p.Gly1235=)
c.3381_3398delinsTCCCCCAGGCCCTCCTGG (p.Gly1127=)
c.1278_1295delinsTCCCCCAGGCCCTCCTGG (p.Gly426=)
c.3720_3737delinsTCCCCCAGGCCCTCCTGG (p.Gly1240=)
c.2040_2057delinsTCCCCCAGGCCCTCCTGG (p.Gly680=)
Xg.108668420_108668433delCA2573159109COL4A5c.3706_3719del (p.Pro1236TrpfsTer11)
c.3382_3395del (p.Pro1128TrpfsTer11)
c.1279_1292del (p.Pro427TrpfsTer11)
c.3721_3734del (p.Pro1241TrpfsTer11)
c.2041_2054del (p.Pro681TrpfsTer11)
 dbSNP
Xg.108668420_108668436delinsTCA258939COL4A5c.3706_3722delinsT (p.Pro1236PhefsTer?)
c.3382_3398delinsT (p.Pro1128PhefsTer?)
c.1279_1295delinsT (p.Pro427PhefsTer?)
c.3721_3737delinsT (p.Pro1241PhefsTer?)
c.2041_2057delinsT (p.Pro681PhefsTer?)
 dbSNP
Xg.108668420_108668436delinsTTCA2695235657COL4A5c.3706_3722delinsTT (p.Pro1236_Gly1241delinsPhe)
c.3382_3398delinsTT (p.Pro1128_Gly1133delinsPhe)
c.1279_1295delinsTT (p.Pro427_Gly432delinsPhe)
c.3721_3737delinsTT (p.Pro1241_Gly1246delinsPhe)
c.2041_2057delinsTT (p.Pro681_Gly686delinsPhe)
Xg.108668420_108668472delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACA2450712958COL4A5c.3706_3758delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1236=)
c.3382_3434delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1128=)
c.1279_1331delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro427=)
c.3721_3773delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro1241=)
c.2041_2093delinsCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA (p.Pro681=)
Xg.108668424_108668475delCA258940COL4A5c.3710_3761del (p.Pro1237LeufsTer?)
c.3386_3437del (p.Pro1129LeufsTer?)
c.1283_1334del (p.Pro428LeufsTer?)
c.3725_3776del (p.Pro1242LeufsTer?)
c.2045_2096del (p.Pro682LeufsTer?)
 dbSNP
Xg.108668430C>ACA413848913COL4A5c.3716C>A (p.Pro1239His)
c.3392C>A (p.Pro1131His)
c.1289C>A (p.Pro430His)
c.3731C>A (p.Pro1244His)
c.2051C>A (p.Pro684His)
Xg.108668430C=CA2450712960COL4A5c.3716C= (p.Pro1239=)
c.3392C= (p.Pro1131=)
c.1289C= (p.Pro430=)
c.3731C= (p.Pro1244=)
c.2051C= (p.Pro684=)
Xg.108668430C>GCA413848909COL4A5c.3716C>G (p.Pro1239Arg)
c.3392C>G (p.Pro1131Arg)
c.1289C>G (p.Pro430Arg)
c.3731C>G (p.Pro1244Arg)
c.2051C>G (p.Pro684Arg)
Xg.108668430C>TCA10489159COL4A5c.3716C>T (p.Pro1239Leu)
c.3392C>T (p.Pro1131Leu)
c.1289C>T (p.Pro430Leu)
c.3731C>T (p.Pro1244Leu)
c.2051C>T (p.Pro684Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108668431T>ACA517922704COL4A5c.3717T>A (p.Pro1239=)
c.3393T>A (p.Pro1131=)
c.1290T>A (p.Pro430=)
c.3732T>A (p.Pro1244=)
c.2052T>A (p.Pro684=)
Xg.108668431T>CCA517922706COL4A5c.3717T>C (p.Pro1239=)
c.3393T>C (p.Pro1131=)
c.1290T>C (p.Pro430=)
c.3732T>C (p.Pro1244=)
c.2052T>C (p.Pro684=)
Xg.108668431T>GCA517922705COL4A5c.3717T>G (p.Pro1239=)
c.3393T>G (p.Pro1131=)
c.1290T>G (p.Pro430=)
c.3732T>G (p.Pro1244=)
c.2052T>G (p.Pro684=)
Xg.108668431_108668435dupCA2695235658COL4A5c.3717_3721dup (p.Gly1241ValfsTer?)
c.3393_3397dup (p.Gly1133ValfsTer?)
c.1290_1294dup (p.Gly432ValfsTer?)
c.3732_3736dup (p.Gly1246ValfsTer?)
c.2052_2056dup (p.Gly686ValfsTer?)
Xg.108668432C>ACA413848916COL4A5c.3718C>A (p.Pro1240Thr)
c.3394C>A (p.Pro1132Thr)
c.1291C>A (p.Pro431Thr)
c.3733C>A (p.Pro1245Thr)
c.2053C>A (p.Pro685Thr)
Xg.108668432C=CA2450712961COL4A5c.3718C= (p.Pro1240=)
c.3394C= (p.Pro1132=)
c.1291C= (p.Pro431=)
c.3733C= (p.Pro1245=)
c.2053C= (p.Pro685=)
Xg.108668432C>GCA413848918COL4A5c.3718C>G (p.Pro1240Ala)
c.3394C>G (p.Pro1132Ala)
c.1291C>G (p.Pro431Ala)
c.3733C>G (p.Pro1245Ala)
c.2053C>G (p.Pro685Ala)
 dbSNP
Xg.108668432C>TCA413848919COL4A5c.3718C>T (p.Pro1240Ser)
c.3394C>T (p.Pro1132Ser)
c.1291C>T (p.Pro431Ser)
c.3733C>T (p.Pro1245Ser)
c.2053C>T (p.Pro685Ser)
Xg.108668433C>ACA413848920COL4A5c.3719C>A (p.Pro1240His)
c.3395C>A (p.Pro1132His)
c.1292C>A (p.Pro431His)
c.3734C>A (p.Pro1245His)
c.2054C>A (p.Pro685His)
Xg.108668433C>GCA413848921COL4A5c.3719C>G (p.Pro1240Arg)
c.3395C>G (p.Pro1132Arg)
c.1292C>G (p.Pro431Arg)
c.3734C>G (p.Pro1245Arg)
c.2054C>G (p.Pro685Arg)
 gnomAD v4
Xg.108668433C>TCA413848922COL4A5c.3719C>T (p.Pro1240Leu)
c.3395C>T (p.Pro1132Leu)
c.1292C>T (p.Pro431Leu)
c.3734C>T (p.Pro1245Leu)
c.2054C>T (p.Pro685Leu)
Xg.108668434T>ACA517922707COL4A5c.3720T>A (p.Pro1240=)
c.3396T>A (p.Pro1132=)
c.1293T>A (p.Pro431=)
c.3735T>A (p.Pro1245=)
c.2055T>A (p.Pro685=)
Xg.108668434T>CCA517922708COL4A5c.3720T>C (p.Pro1240=)
c.3396T>C (p.Pro1132=)
c.1293T>C (p.Pro431=)
c.3735T>C (p.Pro1245=)
c.2055T>C (p.Pro685=)
Xg.108668434T>GCA517922709COL4A5c.3720T>G (p.Pro1240=)
c.3396T>G (p.Pro1132=)
c.1293T>G (p.Pro431=)
c.3735T>G (p.Pro1245=)
c.2055T>G (p.Pro685=)
Xg.108668435G>ACA413848924COL4A5c.3721G>A (p.Gly1241Ser)
c.3397G>A (p.Gly1133Ser)
c.1294G>A (p.Gly432Ser)
c.3736G>A (p.Gly1246Ser)
c.2056G>A (p.Gly686Ser)
 ClinVar dbSNP
Xg.108668435G>CCA413848926COL4A5c.3721G>C (p.Gly1241Arg)
c.3397G>C (p.Gly1133Arg)
c.1294G>C (p.Gly432Arg)
c.3736G>C (p.Gly1246Arg)
c.2056G>C (p.Gly686Arg)
Xg.108668435G=CA2450712962COL4A5c.3721G= (p.Gly1241=)
c.3397G= (p.Gly1133=)
c.1294G= (p.Gly432=)
c.3736G= (p.Gly1246=)
c.2056G= (p.Gly686=)
Xg.108668435G>TCA258942COL4A5c.3721G>T (p.Gly1241Cys)
c.3397G>T (p.Gly1133Cys)
c.1294G>T (p.Gly432Cys)
c.3736G>T (p.Gly1246Cys)
c.2056G>T (p.Gly686Cys)
 ClinVar dbSNP
Xg.108668436delCA2695235659COL4A5c.3722del (p.Gly1241ValfsTer?)
c.3398del (p.Gly1133ValfsTer?)
c.1295del (p.Gly432ValfsTer?)
c.3737del (p.Gly1246ValfsTer?)
c.2057del (p.Gly686ValfsTer?)
Xg.108668436G>ACA413848929COL4A5c.3722G>A (p.Gly1241Asp)
c.3398G>A (p.Gly1133Asp)
c.1295G>A (p.Gly432Asp)
c.3737G>A (p.Gly1246Asp)
c.2057G>A (p.Gly686Asp)
 ClinVar dbSNP
Xg.108668436G>CCA413848931COL4A5c.3722G>C (p.Gly1241Ala)
c.3398G>C (p.Gly1133Ala)
c.1295G>C (p.Gly432Ala)
c.3737G>C (p.Gly1246Ala)
c.2057G>C (p.Gly686Ala)
Xg.108668436G=CA2450712963COL4A5c.3722G= (p.Gly1241=)
c.3398G= (p.Gly1133=)
c.1295G= (p.Gly432=)
c.3737G= (p.Gly1246=)
c.2057G= (p.Gly686=)
Xg.108668436G>TCA258944COL4A5c.3722G>T (p.Gly1241Val)
c.3398G>T (p.Gly1133Val)
c.1295G>T (p.Gly432Val)
c.3737G>T (p.Gly1246Val)
c.2057G>T (p.Gly686Val)
 dbSNP
Xg.108668437T>ACA517922710COL4A5c.3723T>A (p.Gly1241=)
c.3399T>A (p.Gly1133=)
c.1296T>A (p.Gly432=)
c.3738T>A (p.Gly1246=)
c.2058T>A (p.Gly686=)
Xg.108668437T>CCA517922711COL4A5c.3723T>C (p.Gly1241=)
c.3399T>C (p.Gly1133=)
c.1296T>C (p.Gly432=)
c.3738T>C (p.Gly1246=)
c.2058T>C (p.Gly686=)
Xg.108668437T>GCA517922712COL4A5c.3723T>G (p.Gly1241=)
c.3399T>G (p.Gly1133=)
c.1296T>G (p.Gly432=)
c.3738T>G (p.Gly1246=)
c.2058T>G (p.Gly686=)
Xg.108668438T>ACA413848935COL4A5c.3724T>A (p.Ser1242Thr)
c.3400T>A (p.Ser1134Thr)
c.1297T>A (p.Ser433Thr)
c.3739T>A (p.Ser1247Thr)
c.2059T>A (p.Ser687Thr)
Xg.108668438T>CCA413848939COL4A5c.3724T>C (p.Ser1242Pro)
c.3400T>C (p.Ser1134Pro)
c.1297T>C (p.Ser433Pro)
c.3739T>C (p.Ser1247Pro)
c.2059T>C (p.Ser687Pro)
Xg.108668438T>GCA413848936COL4A5c.3724T>G (p.Ser1242Ala)
c.3400T>G (p.Ser1134Ala)
c.1297T>G (p.Ser433Ala)
c.3739T>G (p.Ser1247Ala)
c.2059T>G (p.Ser687Ala)
Xg.108668439C>ACA413848941COL4A5c.3725C>A (p.Ser1242Tyr)
c.3401C>A (p.Ser1134Tyr)
c.1298C>A (p.Ser433Tyr)
c.3740C>A (p.Ser1247Tyr)
c.2060C>A (p.Ser687Tyr)
Xg.108668439C=CA2450712964COL4A5c.3725C= (p.Ser1242=)
c.3401C= (p.Ser1134=)
c.1298C= (p.Ser433=)
c.3740C= (p.Ser1247=)
c.2060C= (p.Ser687=)
Xg.108668439C>GCA413848943COL4A5c.3725C>G (p.Ser1242Cys)
c.3401C>G (p.Ser1134Cys)
c.1298C>G (p.Ser433Cys)
c.3740C>G (p.Ser1247Cys)
c.2060C>G (p.Ser687Cys)
Xg.108668439C>TCA10489160COL4A5c.3725C>T (p.Ser1242Phe)
c.3401C>T (p.Ser1134Phe)
c.1298C>T (p.Ser433Phe)
c.3740C>T (p.Ser1247Phe)
c.2060C>T (p.Ser687Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668440T>ACA517922713COL4A5c.3726T>A (p.Ser1242=)
c.3402T>A (p.Ser1134=)
c.1299T>A (p.Ser433=)
c.3741T>A (p.Ser1247=)
c.2061T>A (p.Ser687=)
Xg.108668440T>CCA517922714COL4A5c.3726T>C (p.Ser1242=)
c.3402T>C (p.Ser1134=)
c.1299T>C (p.Ser433=)
c.3741T>C (p.Ser1247=)
c.2061T>C (p.Ser687=)
Xg.108668440T>GCA517922715COL4A5c.3726T>G (p.Ser1242=)
c.3402T>G (p.Ser1134=)
c.1299T>G (p.Ser433=)
c.3741T>G (p.Ser1247=)
c.2061T>G (p.Ser687=)
Xg.108668441C>ACA413848946COL4A5c.3727C>A (p.Pro1243Thr)
c.3403C>A (p.Pro1135Thr)
c.1300C>A (p.Pro434Thr)
c.3742C>A (p.Pro1248Thr)
c.2062C>A (p.Pro688Thr)
Xg.108668441C=CA2450712965COL4A5c.3727C= (p.Pro1243=)
c.3403C= (p.Pro1135=)
c.1300C= (p.Pro434=)
c.3742C= (p.Pro1248=)
c.2062C= (p.Pro688=)
Xg.108668441C>GCA413848947COL4A5c.3727C>G (p.Pro1243Ala)
c.3403C>G (p.Pro1135Ala)
c.1300C>G (p.Pro434Ala)
c.3742C>G (p.Pro1248Ala)
c.2062C>G (p.Pro688Ala)
Xg.108668441C>TCA334046887COL4A5c.3727C>T (p.Pro1243Ser)
c.3403C>T (p.Pro1135Ser)
c.1300C>T (p.Pro434Ser)
c.3742C>T (p.Pro1248Ser)
c.2062C>T (p.Pro688Ser)
 dbSNP
Xg.108668442C>ACA413848951COL4A5c.3728C>A (p.Pro1243Gln)
c.3404C>A (p.Pro1135Gln)
c.1301C>A (p.Pro434Gln)
c.3743C>A (p.Pro1248Gln)
c.2063C>A (p.Pro688Gln)
Xg.108668442C=CA2450712966COL4A5c.3728C= (p.Pro1243=)
c.3404C= (p.Pro1135=)
c.1301C= (p.Pro434=)
c.3743C= (p.Pro1248=)
c.2063C= (p.Pro688=)
Xg.108668442C>GCA413848950COL4A5c.3728C>G (p.Pro1243Arg)
c.3404C>G (p.Pro1135Arg)
c.1301C>G (p.Pro434Arg)
c.3743C>G (p.Pro1248Arg)
c.2063C>G (p.Pro688Arg)
Xg.108668442C>TCA10489161COL4A5c.3728C>T (p.Pro1243Leu)
c.3404C>T (p.Pro1135Leu)
c.1301C>T (p.Pro434Leu)
c.3743C>T (p.Pro1248Leu)
c.2063C>T (p.Pro688Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108668443G>ACA517922716COL4A5c.3729G>A (p.Pro1243=)
c.3405G>A (p.Pro1135=)
c.1302G>A (p.Pro434=)
c.3744G>A (p.Pro1248=)
c.2064G>A (p.Pro688=)
 gnomAD v4
Xg.108668443G>CCA517922718COL4A5c.3729G>C (p.Pro1243=)
c.3405G>C (p.Pro1135=)
c.1302G>C (p.Pro434=)
c.3744G>C (p.Pro1248=)
c.2064G>C (p.Pro688=)
Xg.108668443G>TCA517922717COL4A5c.3729G>T (p.Pro1243=)
c.3405G>T (p.Pro1135=)
c.1302G>T (p.Pro434=)
c.3744G>T (p.Pro1248=)
c.2064G>T (p.Pro688=)
Xg.108668445delCA2694441655COL4A5c.3731del (p.Gly1244ValfsTer?)
c.3407del (p.Gly1136ValfsTer?)
c.1304del (p.Gly435ValfsTer?)
c.3746del (p.Gly1249ValfsTer?)
c.2066del (p.Gly689ValfsTer?)
 gnomAD v4
Xg.108668444G>ACA334046899COL4A5c.3730G>A (p.Gly1244Ser)
c.3406G>A (p.Gly1136Ser)
c.1303G>A (p.Gly435Ser)
c.3745G>A (p.Gly1249Ser)
c.2065G>A (p.Gly689Ser)
 ClinVar dbSNP gnomAD v4
Xg.108668444G>CCA413848954COL4A5c.3730G>C (p.Gly1244Arg)
c.3406G>C (p.Gly1136Arg)
c.1303G>C (p.Gly435Arg)
c.3745G>C (p.Gly1249Arg)
c.2065G>C (p.Gly689Arg)
 ClinVar dbSNP
Xg.108668444G=CA2450712967COL4A5c.3730G= (p.Gly1244=)
c.3406G= (p.Gly1136=)
c.1303G= (p.Gly435=)
c.3745G= (p.Gly1249=)
c.2065G= (p.Gly689=)
Xg.108668444G>TCA413848955COL4A5c.3730G>T (p.Gly1244Cys)
c.3406G>T (p.Gly1136Cys)
c.1303G>T (p.Gly435Cys)
c.3745G>T (p.Gly1249Cys)
c.2065G>T (p.Gly689Cys)
Xg.108668445G>ACA258947COL4A5c.3731G>A (p.Gly1244Asp)
c.3407G>A (p.Gly1136Asp)
c.1304G>A (p.Gly435Asp)
c.3746G>A (p.Gly1249Asp)
c.2066G>A (p.Gly689Asp)
 ClinVar dbSNP gnomAD v4
Xg.108668445G>CCA413848959COL4A5c.3731G>C (p.Gly1244Ala)
c.3407G>C (p.Gly1136Ala)
c.1304G>C (p.Gly435Ala)
c.3746G>C (p.Gly1249Ala)
c.2066G>C (p.Gly689Ala)
Xg.108668445G=CA2450712968COL4A5c.3731G= (p.Gly1244=)
c.3407G= (p.Gly1136=)
c.1304G= (p.Gly435=)
c.3746G= (p.Gly1249=)
c.2066G= (p.Gly689=)
Xg.108668445G>TCA413848961COL4A5c.3731G>T (p.Gly1244Val)
c.3407G>T (p.Gly1136Val)
c.1304G>T (p.Gly435Val)
c.3746G>T (p.Gly1249Val)
c.2066G>T (p.Gly689Val)
Xg.108668446T>ACA517922719COL4A5c.3732T>A (p.Gly1244=)
c.3408T>A (p.Gly1136=)
c.1305T>A (p.Gly435=)
c.3747T>A (p.Gly1249=)
c.2067T>A (p.Gly689=)
Xg.108668446T>CCA517922720COL4A5c.3732T>C (p.Gly1244=)
c.3408T>C (p.Gly1136=)
c.1305T>C (p.Gly435=)
c.3747T>C (p.Gly1249=)
c.2067T>C (p.Gly689=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108668446T>GCA517922721COL4A5c.3732T>G (p.Gly1244=)
c.3408T>G (p.Gly1136=)
c.1305T>G (p.Gly435=)
c.3747T>G (p.Gly1249=)
c.2067T>G (p.Gly689=)
Xg.108668446T=CA2450712969COL4A5c.3732T= (p.Gly1244=)
c.3408T= (p.Gly1136=)
c.1305T= (p.Gly435=)
c.3747T= (p.Gly1249=)
c.2067T= (p.Gly689=)
Xg.108668447C>ACA413848964COL4A5c.3733C>A (p.Pro1245Thr)
c.3409C>A (p.Pro1137Thr)
c.1306C>A (p.Pro436Thr)
c.3748C>A (p.Pro1250Thr)
c.2068C>A (p.Pro690Thr)
Xg.108668447C>GCA413848966COL4A5c.3733C>G (p.Pro1245Ala)
c.3409C>G (p.Pro1137Ala)
c.1306C>G (p.Pro436Ala)
c.3748C>G (p.Pro1250Ala)
c.2068C>G (p.Pro690Ala)
Xg.108668447C>TCA413848965COL4A5c.3733C>T (p.Pro1245Ser)
c.3409C>T (p.Pro1137Ser)
c.1306C>T (p.Pro436Ser)
c.3748C>T (p.Pro1250Ser)
c.2068C>T (p.Pro690Ser)
Xg.108668448C>ACA413848968COL4A5c.3734C>A (p.Pro1245Gln)
c.3410C>A (p.Pro1137Gln)
c.1307C>A (p.Pro436Gln)
c.3749C>A (p.Pro1250Gln)
c.2069C>A (p.Pro690Gln)
Xg.108668448C=CA2450712970COL4A5c.3734C= (p.Pro1245=)
c.3410C= (p.Pro1137=)
c.1307C= (p.Pro436=)
c.3749C= (p.Pro1250=)
c.2069C= (p.Pro690=)
Xg.108668448C>GCA413848969COL4A5c.3734C>G (p.Pro1245Arg)
c.3410C>G (p.Pro1137Arg)
c.1307C>G (p.Pro436Arg)
c.3749C>G (p.Pro1250Arg)
c.2069C>G (p.Pro690Arg)
Xg.108668448C>TCA413848970COL4A5c.3734C>T (p.Pro1245Leu)
c.3410C>T (p.Pro1137Leu)
c.1307C>T (p.Pro436Leu)
c.3749C>T (p.Pro1250Leu)
c.2069C>T (p.Pro690Leu)
 dbSNP gnomAD v2
Xg.108668449A>CCA517922722COL4A5c.3735A>C (p.Pro1245=)
c.3411A>C (p.Pro1137=)
c.1308A>C (p.Pro436=)
c.3750A>C (p.Pro1250=)
c.2070A>C (p.Pro690=)
Xg.108668449A>GCA517922723COL4A5c.3735A>G (p.Pro1245=)
c.3411A>G (p.Pro1137=)
c.1308A>G (p.Pro436=)
c.3750A>G (p.Pro1250=)
c.2070A>G (p.Pro690=)
Xg.108668449A>TCA517922724COL4A5c.3735A>T (p.Pro1245=)
c.3411A>T (p.Pro1137=)
c.1308A>T (p.Pro436=)
c.3750A>T (p.Pro1250=)
c.2070A>T (p.Pro690=)
Xg.108668450G>ACA413848972COL4A5c.3736G>A (p.Ala1246Thr)
c.3412G>A (p.Ala1138Thr)
c.1309G>A (p.Ala437Thr)
c.3751G>A (p.Ala1251Thr)
c.2071G>A (p.Ala691Thr)
Xg.108668450G>CCA413848974COL4A5c.3736G>C (p.Ala1246Pro)
c.3412G>C (p.Ala1138Pro)
c.1309G>C (p.Ala437Pro)
c.3751G>C (p.Ala1251Pro)
c.2071G>C (p.Ala691Pro)
Xg.108668450G=CA2450712971COL4A5c.3736G= (p.Ala1246=)
c.3412G= (p.Ala1138=)
c.1309G= (p.Ala437=)
c.3751G= (p.Ala1251=)
c.2071G= (p.Ala691=)
Xg.108668450G>TCA10489162COL4A5c.3736G>T (p.Ala1246Ser)
c.3412G>T (p.Ala1138Ser)
c.1309G>T (p.Ala437Ser)
c.3751G>T (p.Ala1251Ser)
c.2071G>T (p.Ala691Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668451C>ACA413848977COL4A5c.3737C>A (p.Ala1246Asp)
c.3413C>A (p.Ala1138Asp)
c.1310C>A (p.Ala437Asp)
c.3752C>A (p.Ala1251Asp)
c.2072C>A (p.Ala691Asp)
Xg.108668451C>GCA413848979COL4A5c.3737C>G (p.Ala1246Gly)
c.3413C>G (p.Ala1138Gly)
c.1310C>G (p.Ala437Gly)
c.3752C>G (p.Ala1251Gly)
c.2072C>G (p.Ala691Gly)
Xg.108668451C>TCA413848980COL4A5c.3737C>T (p.Ala1246Val)
c.3413C>T (p.Ala1138Val)
c.1310C>T (p.Ala437Val)
c.3752C>T (p.Ala1251Val)
c.2072C>T (p.Ala691Val)
Xg.108668452T>ACA517922725COL4A5c.3738T>A (p.Ala1246=)
c.3414T>A (p.Ala1138=)
c.1311T>A (p.Ala437=)
c.3753T>A (p.Ala1251=)
c.2073T>A (p.Ala691=)
Xg.108668452T>CCA517922726COL4A5c.3738T>C (p.Ala1246=)
c.3414T>C (p.Ala1138=)
c.1311T>C (p.Ala437=)
c.3753T>C (p.Ala1251=)
c.2073T>C (p.Ala691=)
Xg.108668452T>GCA517922727COL4A5c.3738T>G (p.Ala1246=)
c.3414T>G (p.Ala1138=)
c.1311T>G (p.Ala437=)
c.3753T>G (p.Ala1251=)
c.2073T>G (p.Ala691=)
Xg.108668453C>ACA413848983COL4A5c.3739C>A (p.Leu1247Met)
c.3415C>A (p.Leu1139Met)
c.1312C>A (p.Leu438Met)
c.3754C>A (p.Leu1252Met)
c.2074C>A (p.Leu692Met)
Xg.108668453C=CA2450712972COL4A5c.3739C= (p.Leu1247=)
c.3415C= (p.Leu1139=)
c.1312C= (p.Leu438=)
c.3754C= (p.Leu1252=)
c.2074C= (p.Leu692=)
Xg.108668453C>GCA10489163COL4A5c.3739C>G (p.Leu1247Val)
c.3415C>G (p.Leu1139Val)
c.1312C>G (p.Leu438Val)
c.3754C>G (p.Leu1252Val)
c.2074C>G (p.Leu692Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668453C>TCA517922728COL4A5c.3739C>T (p.Leu1247=)
c.3415C>T (p.Leu1139=)
c.1312C>T (p.Leu438=)
c.3754C>T (p.Leu1252=)
c.2074C>T (p.Leu692=)
 gnomAD v4
Xg.108668454T>ACA413848985COL4A5c.3740T>A (p.Leu1247Gln)
c.3416T>A (p.Leu1139Gln)
c.1313T>A (p.Leu438Gln)
c.3755T>A (p.Leu1252Gln)
c.2075T>A (p.Leu692Gln)
Xg.108668454T>CCA413848989COL4A5c.3740T>C (p.Leu1247Pro)
c.3416T>C (p.Leu1139Pro)
c.1313T>C (p.Leu438Pro)
c.3755T>C (p.Leu1252Pro)
c.2075T>C (p.Leu692Pro)
 dbSNP
Xg.108668454T>GCA413848987COL4A5c.3740T>G (p.Leu1247Arg)
c.3416T>G (p.Leu1139Arg)
c.1313T>G (p.Leu438Arg)
c.3755T>G (p.Leu1252Arg)
c.2075T>G (p.Leu692Arg)
Xg.108668454T=CA2450712973COL4A5c.3740T= (p.Leu1247=)
c.3416T= (p.Leu1139=)
c.1313T= (p.Leu438=)
c.3755T= (p.Leu1252=)
c.2075T= (p.Leu692=)
Xg.108668455G>ACA517922729COL4A5c.3741G>A (p.Leu1247=)
c.3417G>A (p.Leu1139=)
c.1314G>A (p.Leu438=)
c.3756G>A (p.Leu1252=)
c.2076G>A (p.Leu692=)
Xg.108668455G>CCA517922730COL4A5c.3741G>C (p.Leu1247=)
c.3417G>C (p.Leu1139=)
c.1314G>C (p.Leu438=)
c.3756G>C (p.Leu1252=)
c.2076G>C (p.Leu692=)
Xg.108668455G>TCA517922731COL4A5c.3741G>T (p.Leu1247=)
c.3417G>T (p.Leu1139=)
c.1314G>T (p.Leu438=)
c.3756G>T (p.Leu1252=)
c.2076G>T (p.Leu692=)
Xg.108668456delCA2822901963COL4A5c.3742del (p.Glu1248LysfsTer?)
c.3418del (p.Glu1140LysfsTer?)
c.1315del (p.Glu439LysfsTer?)
c.3757del (p.Glu1253LysfsTer?)
c.2077del (p.Glu693LysfsTer?)
Xg.108668456G>ACA413848992COL4A5c.3742G>A (p.Glu1248Lys)
c.3418G>A (p.Glu1140Lys)
c.1315G>A (p.Glu439Lys)
c.3757G>A (p.Glu1253Lys)
c.2077G>A (p.Glu693Lys)
 ClinVar gnomAD v4
Xg.108668456G>CCA413848994COL4A5c.3742G>C (p.Glu1248Gln)
c.3418G>C (p.Glu1140Gln)
c.1315G>C (p.Glu439Gln)
c.3757G>C (p.Glu1253Gln)
c.2077G>C (p.Glu693Gln)
Xg.108668456G>TCA413848995COL4A5c.3742G>T (p.Glu1248Ter)
c.3418G>T (p.Glu1140Ter)
c.1315G>T (p.Glu439Ter)
c.3757G>T (p.Glu1253Ter)
c.2077G>T (p.Glu693Ter)
Xg.108668457A=CA2450712974COL4A5c.3743A= (p.Glu1248=)
c.3419A= (p.Glu1140=)
c.1316A= (p.Glu439=)
c.3758A= (p.Glu1253=)
c.2078A= (p.Glu693=)
Xg.108668457A>CCA413848998COL4A5c.3743A>C (p.Glu1248Ala)
c.3419A>C (p.Glu1140Ala)
c.1316A>C (p.Glu439Ala)
c.3758A>C (p.Glu1253Ala)
c.2078A>C (p.Glu693Ala)
Xg.108668457A>GCA413849000COL4A5c.3743A>G (p.Glu1248Gly)
c.3419A>G (p.Glu1140Gly)
c.1316A>G (p.Glu439Gly)
c.3758A>G (p.Glu1253Gly)
c.2078A>G (p.Glu693Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668457A>TCA413849001COL4A5c.3743A>T (p.Glu1248Val)
c.3419A>T (p.Glu1140Val)
c.1316A>T (p.Glu439Val)
c.3758A>T (p.Glu1253Val)
c.2078A>T (p.Glu693Val)
Xg.108668458A>CCA413849003COL4A5c.3744A>C (p.Glu1248Asp)
c.3420A>C (p.Glu1140Asp)
c.1317A>C (p.Glu439Asp)
c.3759A>C (p.Glu1253Asp)
c.2079A>C (p.Glu693Asp)
Xg.108668458A>GCA517922732COL4A5c.3744A>G (p.Glu1248=)
c.3420A>G (p.Glu1140=)
c.1317A>G (p.Glu439=)
c.3759A>G (p.Glu1253=)
c.2079A>G (p.Glu693=)
Xg.108668458A>TCA413849004COL4A5c.3744A>T (p.Glu1248Asp)
c.3420A>T (p.Glu1140Asp)
c.1317A>T (p.Glu439Asp)
c.3759A>T (p.Glu1253Asp)
c.2079A>T (p.Glu693Asp)
Xg.108668458_108668459delinsAGCA2450712975COL4A5c.3744_3745delinsAG (p.Glu1248=)
c.3420_3421delinsAG (p.Glu1140=)
c.1317_1318delinsAG (p.Glu439=)
c.3759_3760delinsAG (p.Glu1253=)
c.2079_2080delinsAG (p.Glu693=)
Xg.108668459G>ACA10489164COL4A5c.3745G>A (p.Gly1249Arg)
c.3421G>A (p.Gly1141Arg)
c.1318G>A (p.Gly440Arg)
c.3760G>A (p.Gly1254Arg)
c.2080G>A (p.Gly694Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668459G>CCA413849007COL4A5c.3745G>C (p.Gly1249Arg)
c.3421G>C (p.Gly1141Arg)
c.1318G>C (p.Gly440Arg)
c.3760G>C (p.Gly1254Arg)
c.2080G>C (p.Gly694Arg)
Xg.108668459G=CA2450712976COL4A5c.3745G= (p.Gly1249=)
c.3421G= (p.Gly1141=)
c.1318G= (p.Gly440=)
c.3760G= (p.Gly1254=)
c.2080G= (p.Gly694=)
Xg.108668459G>TCA413849009COL4A5c.3745G>T (p.Gly1249Ter)
c.3421G>T (p.Gly1141Ter)
c.1318G>T (p.Gly440Ter)
c.3760G>T (p.Gly1254Ter)
c.2080G>T (p.Gly694Ter)
Xg.108668460delCA891843684COL4A5c.3746del (p.Gly1249AspfsTer?)
c.3422del (p.Gly1141AspfsTer?)
c.1319del (p.Gly440AspfsTer?)
c.3761del (p.Gly1254AspfsTer?)
c.2081del (p.Gly694AspfsTer?)
Xg.108668460G>ACA413849015COL4A5c.3746G>A (p.Gly1249Glu)
c.3422G>A (p.Gly1141Glu)
c.1319G>A (p.Gly440Glu)
c.3761G>A (p.Gly1254Glu)
c.2081G>A (p.Gly694Glu)
Xg.108668460G>CCA413849013COL4A5c.3746G>C (p.Gly1249Ala)
c.3422G>C (p.Gly1141Ala)
c.1319G>C (p.Gly440Ala)
c.3761G>C (p.Gly1254Ala)
c.2081G>C (p.Gly694Ala)
Xg.108668460G>TCA413849012COL4A5c.3746G>T (p.Gly1249Val)
c.3422G>T (p.Gly1141Val)
c.1319G>T (p.Gly440Val)
c.3761G>T (p.Gly1254Val)
c.2081G>T (p.Gly694Val)
 gnomAD v4
Xg.108668461A=CA2450712977COL4A5c.3747A= (p.Gly1249=)
c.3423A= (p.Gly1141=)
c.1320A= (p.Gly440=)
c.3762A= (p.Gly1254=)
c.2082A= (p.Gly694=)
Xg.108668461A>CCA517922733COL4A5c.3747A>C (p.Gly1249=)
c.3423A>C (p.Gly1141=)
c.1320A>C (p.Gly440=)
c.3762A>C (p.Gly1254=)
c.2082A>C (p.Gly694=)
Xg.108668461A>GCA517922734COL4A5c.3747A>G (p.Gly1249=)
c.3423A>G (p.Gly1141=)
c.1320A>G (p.Gly440=)
c.3762A>G (p.Gly1254=)
c.2082A>G (p.Gly694=)
Xg.108668461A>TCA517922735COL4A5c.3747A>T (p.Gly1249=)
c.3423A>T (p.Gly1141=)
c.1320A>T (p.Gly440=)
c.3762A>T (p.Gly1254=)
c.2082A>T (p.Gly694=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108668462C>ACA413849018COL4A5c.3748C>A (p.Pro1250Thr)
c.3424C>A (p.Pro1142Thr)
c.1321C>A (p.Pro441Thr)
c.3763C>A (p.Pro1255Thr)
c.2083C>A (p.Pro695Thr)
Xg.108668462C=CA2450712978COL4A5c.3748C= (p.Pro1250=)
c.3424C= (p.Pro1142=)
c.1321C= (p.Pro441=)
c.3763C= (p.Pro1255=)
c.2083C= (p.Pro695=)
Xg.108668462C>GCA413849019COL4A5c.3748C>G (p.Pro1250Ala)
c.3424C>G (p.Pro1142Ala)
c.1321C>G (p.Pro441Ala)
c.3763C>G (p.Pro1255Ala)
c.2083C>G (p.Pro695Ala)
Xg.108668462C>TCA413849022COL4A5c.3748C>T (p.Pro1250Ser)
c.3424C>T (p.Pro1142Ser)
c.1321C>T (p.Pro441Ser)
c.3763C>T (p.Pro1255Ser)
c.2083C>T (p.Pro695Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668463C>ACA413849024COL4A5c.3749C>A (p.Pro1250His)
c.3425C>A (p.Pro1142His)
c.1322C>A (p.Pro441His)
c.3764C>A (p.Pro1255His)
c.2084C>A (p.Pro695His)
Xg.108668463C>GCA413849026COL4A5c.3749C>G (p.Pro1250Arg)
c.3425C>G (p.Pro1142Arg)
c.1322C>G (p.Pro441Arg)
c.3764C>G (p.Pro1255Arg)
c.2084C>G (p.Pro695Arg)
Xg.108668463C>TCA413849027COL4A5c.3749C>T (p.Pro1250Leu)
c.3425C>T (p.Pro1142Leu)
c.1322C>T (p.Pro441Leu)
c.3764C>T (p.Pro1255Leu)
c.2084C>T (p.Pro695Leu)
Xg.108668464T>ACA517922736COL4A5c.3750T>A (p.Pro1250=)
c.3426T>A (p.Pro1142=)
c.1323T>A (p.Pro441=)
c.3765T>A (p.Pro1255=)
c.2085T>A (p.Pro695=)
Xg.108668464T>CCA517922737COL4A5c.3750T>C (p.Pro1250=)
c.3426T>C (p.Pro1142=)
c.1323T>C (p.Pro441=)
c.3765T>C (p.Pro1255=)
c.2085T>C (p.Pro695=)
 ClinVar
Xg.108668464T>GCA517922738COL4A5c.3750T>G (p.Pro1250=)
c.3426T>G (p.Pro1142=)
c.1323T>G (p.Pro441=)
c.3765T>G (p.Pro1255=)
c.2085T>G (p.Pro695=)
Xg.108668465A>CCA413849028COL4A5c.3751A>C (p.Lys1251Gln)
c.3427A>C (p.Lys1143Gln)
c.1324A>C (p.Lys442Gln)
c.3766A>C (p.Lys1256Gln)
c.2086A>C (p.Lys696Gln)
Xg.108668465A>GCA413849030COL4A5c.3751A>G (p.Lys1251Glu)
c.3427A>G (p.Lys1143Glu)
c.1324A>G (p.Lys442Glu)
c.3766A>G (p.Lys1256Glu)
c.2086A>G (p.Lys696Glu)
 ClinVar
Xg.108668465A>TCA413849032COL4A5c.3751A>T (p.Lys1251Ter)
c.3427A>T (p.Lys1143Ter)
c.1324A>T (p.Lys442Ter)
c.3766A>T (p.Lys1256Ter)
c.2086A>T (p.Lys696Ter)
Xg.108668467delCA2579676918COL4A5c.3753del (p.Gly1252AlafsTer?)
c.3429del (p.Gly1144AlafsTer?)
c.1326del (p.Gly443AlafsTer?)
c.3768del (p.Gly1257AlafsTer?)
c.2088del (p.Gly697AlafsTer?)
Xg.108668466A=CA2450712979COL4A5c.3752A= (p.Lys1251=)
c.3428A= (p.Lys1143=)
c.1325A= (p.Lys442=)
c.3767A= (p.Lys1256=)
c.2087A= (p.Lys696=)
Xg.108668466A>CCA413849034COL4A5c.3752A>C (p.Lys1251Thr)
c.3428A>C (p.Lys1143Thr)
c.1325A>C (p.Lys442Thr)
c.3767A>C (p.Lys1256Thr)
c.2087A>C (p.Lys696Thr)
Xg.108668466A>GCA413849035COL4A5c.3752A>G (p.Lys1251Arg)
c.3428A>G (p.Lys1143Arg)
c.1325A>G (p.Lys442Arg)
c.3767A>G (p.Lys1256Arg)
c.2087A>G (p.Lys696Arg)
Xg.108668466A>TCA413849037COL4A5c.3752A>T (p.Lys1251Ile)
c.3428A>T (p.Lys1143Ile)
c.1325A>T (p.Lys442Ile)
c.3767A>T (p.Lys1256Ile)
c.2087A>T (p.Lys696Ile)
Xg.108668467A>CCA413849038COL4A5c.3753A>C (p.Lys1251Asn)
c.3429A>C (p.Lys1143Asn)
c.1326A>C (p.Lys442Asn)
c.3768A>C (p.Lys1256Asn)
c.2088A>C (p.Lys696Asn)
Xg.108668467A>GCA517922739COL4A5c.3753A>G (p.Lys1251=)
c.3429A>G (p.Lys1143=)
c.1326A>G (p.Lys442=)
c.3768A>G (p.Lys1256=)
c.2088A>G (p.Lys696=)
Xg.108668467A>TCA413849041COL4A5c.3753A>T (p.Lys1251Asn)
c.3429A>T (p.Lys1143Asn)
c.1326A>T (p.Lys442Asn)
c.3768A>T (p.Lys1256Asn)
c.2088A>T (p.Lys696Asn)
Xg.108668468_108668471dupCA258951COL4A5c.3754_3757dup (p.Asn1253ArgfsTer?)
c.3754_3757dup (p.Asn1253ArgfsTer30)
c.3430_3433dup (p.Asn1145ArgfsTer?)
c.1327_1330dup (p.Asn444ArgfsTer?)
c.3769_3772dup (p.Asn1258ArgfsTer?)
c.3769_3772dup (p.Asn1258ArgfsTer30)
c.2089_2092dup (p.Asn698ArgfsTer?)
 dbSNP
Xg.108668468G>ACA258949COL4A5c.3754G>A (p.Gly1252Ser)
c.3430G>A (p.Gly1144Ser)
c.1327G>A (p.Gly443Ser)
c.3769G>A (p.Gly1257Ser)
c.2089G>A (p.Gly697Ser)
 ClinVar dbSNP
Xg.108668468G>CCA413849043COL4A5c.3754G>C (p.Gly1252Arg)
c.3430G>C (p.Gly1144Arg)
c.1327G>C (p.Gly443Arg)
c.3769G>C (p.Gly1257Arg)
c.2089G>C (p.Gly697Arg)
Xg.108668468G=CA2450712980COL4A5c.3754G= (p.Gly1252=)
c.3430G= (p.Gly1144=)
c.1327G= (p.Gly443=)
c.3769G= (p.Gly1257=)
c.2089G= (p.Gly697=)
Xg.108668468G>TCA413849046COL4A5c.3754G>T (p.Gly1252Cys)
c.3430G>T (p.Gly1144Cys)
c.1327G>T (p.Gly443Cys)
c.3769G>T (p.Gly1257Cys)
c.2089G>T (p.Gly697Cys)
Xg.108668469G>ACA413849049COL4A5c.3755G>A (p.Gly1252Asp)
c.3431G>A (p.Gly1144Asp)
c.1328G>A (p.Gly443Asp)
c.3770G>A (p.Gly1257Asp)
c.2090G>A (p.Gly697Asp)
 ClinVar dbSNP
Xg.108668469G>CCA413849052COL4A5c.3755G>C (p.Gly1252Ala)
c.3431G>C (p.Gly1144Ala)
c.1328G>C (p.Gly443Ala)
c.3770G>C (p.Gly1257Ala)
c.2090G>C (p.Gly697Ala)
Xg.108668469G>TCA413849050COL4A5c.3755G>T (p.Gly1252Val)
c.3431G>T (p.Gly1144Val)
c.1328G>T (p.Gly443Val)
c.3770G>T (p.Gly1257Val)
c.2090G>T (p.Gly697Val)
Xg.108668470C>ACA517922740COL4A5c.3756C>A (p.Gly1252=)
c.3432C>A (p.Gly1144=)
c.1329C>A (p.Gly443=)
c.3771C>A (p.Gly1257=)
c.2091C>A (p.Gly697=)
 gnomAD v4
Xg.108668470C>GCA517922741COL4A5c.3756C>G (p.Gly1252=)
c.3432C>G (p.Gly1144=)
c.1329C>G (p.Gly443=)
c.3771C>G (p.Gly1257=)
c.2091C>G (p.Gly697=)
Xg.108668470C>TCA517922742COL4A5c.3756C>T (p.Gly1252=)
c.3432C>T (p.Gly1144=)
c.1329C>T (p.Gly443=)
c.3771C>T (p.Gly1257=)
c.2091C>T (p.Gly697=)
Xg.108668471A>CCA413849054COL4A5c.3757A>C (p.Asn1253His)
c.3433A>C (p.Asn1145His)
c.1330A>C (p.Asn444His)
c.3772A>C (p.Asn1258His)
c.2092A>C (p.Asn698His)
Xg.108668471A>GCA413849058COL4A5c.3757A>G (p.Asn1253Asp)
c.3433A>G (p.Asn1145Asp)
c.1330A>G (p.Asn444Asp)
c.3772A>G (p.Asn1258Asp)
c.2092A>G (p.Asn698Asp)
Xg.108668471A>TCA413849057COL4A5c.3757A>T (p.Asn1253Tyr)
c.3433A>T (p.Asn1145Tyr)
c.1330A>T (p.Asn444Tyr)
c.3772A>T (p.Asn1258Tyr)
c.2092A>T (p.Asn698Tyr)
Xg.108668472A>CCA413849061COL4A5c.3758A>C (p.Asn1253Thr)
c.3434A>C (p.Asn1145Thr)
c.1331A>C (p.Asn444Thr)
c.3773A>C (p.Asn1258Thr)
c.2093A>C (p.Asn698Thr)
Xg.108668472A>GCA413849063COL4A5c.3758A>G (p.Asn1253Ser)
c.3434A>G (p.Asn1145Ser)
c.1331A>G (p.Asn444Ser)
c.3773A>G (p.Asn1258Ser)
c.2093A>G (p.Asn698Ser)
Xg.108668472A>TCA413849062COL4A5c.3758A>T (p.Asn1253Ile)
c.3434A>T (p.Asn1145Ile)
c.1331A>T (p.Asn444Ile)
c.3773A>T (p.Asn1258Ile)
c.2093A>T (p.Asn698Ile)
 COSMIC COSMIC
Xg.108668473C>ACA413849065COL4A5c.3759C>A (p.Asn1253Lys)
c.3435C>A (p.Asn1145Lys)
c.1332C>A (p.Asn444Lys)
c.3774C>A (p.Asn1258Lys)
c.2094C>A (p.Asn698Lys)
Xg.108668473C>GCA413849067COL4A5c.3759C>G (p.Asn1253Lys)
c.3435C>G (p.Asn1145Lys)
c.1332C>G (p.Asn444Lys)
c.3774C>G (p.Asn1258Lys)
c.2094C>G (p.Asn698Lys)
Xg.108668473C>TCA517922743COL4A5c.3759C>T (p.Asn1253=)
c.3435C>T (p.Asn1145=)
c.1332C>T (p.Asn444=)
c.3774C>T (p.Asn1258=)
c.2094C>T (p.Asn698=)
 gnomAD v4
Xg.108668474C>ACA413849068COL4A5c.3760C>A (p.Pro1254Thr)
c.3436C>A (p.Pro1146Thr)
c.1333C>A (p.Pro445Thr)
c.3775C>A (p.Pro1259Thr)
c.2095C>A (p.Pro699Thr)
Xg.108668474C>GCA413849070COL4A5c.3760C>G (p.Pro1254Ala)
c.3436C>G (p.Pro1146Ala)
c.1333C>G (p.Pro445Ala)
c.3775C>G (p.Pro1259Ala)
c.2095C>G (p.Pro699Ala)
Xg.108668474C>TCA413849072COL4A5c.3760C>T (p.Pro1254Ser)
c.3436C>T (p.Pro1146Ser)
c.1333C>T (p.Pro445Ser)
c.3775C>T (p.Pro1259Ser)
c.2095C>T (p.Pro699Ser)
Xg.108668475C>ACA413849074COL4A5c.3761C>A (p.Pro1254His)
c.3437C>A (p.Pro1146His)
c.1334C>A (p.Pro445His)
c.3776C>A (p.Pro1259His)
c.2096C>A (p.Pro699His)
Xg.108668475C>GCA413849075COL4A5c.3761C>G (p.Pro1254Arg)
c.3437C>G (p.Pro1146Arg)
c.1334C>G (p.Pro445Arg)
c.3776C>G (p.Pro1259Arg)
c.2096C>G (p.Pro699Arg)
 gnomAD v4
Xg.108668475C>TCA413849077COL4A5c.3761C>T (p.Pro1254Leu)
c.3437C>T (p.Pro1146Leu)
c.1334C>T (p.Pro445Leu)
c.3776C>T (p.Pro1259Leu)
c.2096C>T (p.Pro699Leu)
Xg.108668476T>ACA517922746COL4A5c.3762T>A (p.Pro1254=)
c.3438T>A (p.Pro1146=)
c.1335T>A (p.Pro445=)
c.3777T>A (p.Pro1259=)
c.2097T>A (p.Pro699=)
Xg.108668476T>CCA517922745COL4A5c.3762T>C (p.Pro1254=)
c.3438T>C (p.Pro1146=)
c.1335T>C (p.Pro445=)
c.3777T>C (p.Pro1259=)
c.2097T>C (p.Pro699=)
Xg.108668476T>GCA517922744COL4A5c.3762T>G (p.Pro1254=)
c.3438T>G (p.Pro1146=)
c.1335T>G (p.Pro445=)
c.3777T>G (p.Pro1259=)
c.2097T>G (p.Pro699=)
Xg.108668477G>ACA258952COL4A5c.3763G>A (p.Gly1255Arg)
c.3439G>A (p.Gly1147Arg)
c.1336G>A (p.Gly446Arg)
c.3778G>A (p.Gly1260Arg)
c.2098G>A (p.Gly700Arg)
 dbSNP
Xg.108668477G>CCA413849080COL4A5c.3763G>C (p.Gly1255Arg)
c.3439G>C (p.Gly1147Arg)
c.1336G>C (p.Gly446Arg)
c.3778G>C (p.Gly1260Arg)
c.2098G>C (p.Gly700Arg)
Xg.108668477G=CA2450712981COL4A5c.3763G= (p.Gly1255=)
c.3439G= (p.Gly1147=)
c.1336G= (p.Gly446=)
c.3778G= (p.Gly1260=)
c.2098G= (p.Gly700=)
Xg.108668477G>TCA413849081COL4A5c.3763G>T (p.Gly1255Trp)
c.3439G>T (p.Gly1147Trp)
c.1336G>T (p.Gly446Trp)
c.3778G>T (p.Gly1260Trp)
c.2098G>T (p.Gly700Trp)
Xg.108668478G>ACA413849085COL4A5c.3764G>A (p.Gly1255Glu)
c.3440G>A (p.Gly1147Glu)
c.1337G>A (p.Gly446Glu)
c.3779G>A (p.Gly1260Glu)
c.2099G>A (p.Gly700Glu)
Xg.108668478G>CCA413849086COL4A5c.3764G>C (p.Gly1255Ala)
c.3440G>C (p.Gly1147Ala)
c.1337G>C (p.Gly446Ala)
c.3779G>C (p.Gly1260Ala)
c.2099G>C (p.Gly700Ala)
 gnomAD v4
Xg.108668478G>TCA413849088COL4A5c.3764G>T (p.Gly1255Val)
c.3440G>T (p.Gly1147Val)
c.1337G>T (p.Gly446Val)
c.3779G>T (p.Gly1260Val)
c.2099G>T (p.Gly700Val)
Xg.108668479G>ACA517922749COL4A5c.3765G>A (p.Gly1255=)
c.3441G>A (p.Gly1147=)
c.1338G>A (p.Gly446=)
c.3780G>A (p.Gly1260=)
c.2100G>A (p.Gly700=)
Xg.108668479G>CCA517922747COL4A5c.3765G>C (p.Gly1255=)
c.3441G>C (p.Gly1147=)
c.1338G>C (p.Gly446=)
c.3780G>C (p.Gly1260=)
c.2100G>C (p.Gly700=)
Xg.108668479G>TCA517922748COL4A5c.3765G>T (p.Gly1255=)
c.3441G>T (p.Gly1147=)
c.1338G>T (p.Gly446=)
c.3780G>T (p.Gly1260=)
c.2100G>T (p.Gly700=)
Xg.108668480C>ACA413849090COL4A5c.3766C>A (p.Pro1256Thr)
c.3442C>A (p.Pro1148Thr)
c.1339C>A (p.Pro447Thr)
c.3781C>A (p.Pro1261Thr)
c.2101C>A (p.Pro701Thr)
Xg.108668480C>GCA413849093COL4A5c.3766C>G (p.Pro1256Ala)
c.3442C>G (p.Pro1148Ala)
c.1339C>G (p.Pro447Ala)
c.3781C>G (p.Pro1261Ala)
c.2101C>G (p.Pro701Ala)
Xg.108668480C>TCA413849092COL4A5c.3766C>T (p.Pro1256Ser)
c.3442C>T (p.Pro1148Ser)
c.1339C>T (p.Pro447Ser)
c.3781C>T (p.Pro1261Ser)
c.2101C>T (p.Pro701Ser)
Xg.108668481C>ACA413849096COL4A5c.3767C>A (p.Pro1256His)
c.3443C>A (p.Pro1148His)
c.1340C>A (p.Pro447His)
c.3782C>A (p.Pro1261His)
c.2102C>A (p.Pro701His)
Xg.108668481C>GCA413849097COL4A5c.3767C>G (p.Pro1256Arg)
c.3443C>G (p.Pro1148Arg)
c.1340C>G (p.Pro447Arg)
c.3782C>G (p.Pro1261Arg)
c.2102C>G (p.Pro701Arg)
Xg.108668481C>TCA413849099COL4A5c.3767C>T (p.Pro1256Leu)
c.3443C>T (p.Pro1148Leu)
c.1340C>T (p.Pro447Leu)
c.3782C>T (p.Pro1261Leu)
c.2102C>T (p.Pro701Leu)
Xg.108668482C>ACA517922750COL4A5c.3768C>A (p.Pro1256=)
c.3444C>A (p.Pro1148=)
c.1341C>A (p.Pro447=)
c.3783C>A (p.Pro1261=)
c.2103C>A (p.Pro701=)
Xg.108668482C=CA2450712982COL4A5c.3768C= (p.Pro1256=)
c.3444C= (p.Pro1148=)
c.1341C= (p.Pro447=)
c.3783C= (p.Pro1261=)
c.2103C= (p.Pro701=)
Xg.108668482C>GCA517922751COL4A5c.3768C>G (p.Pro1256=)
c.3444C>G (p.Pro1148=)
c.1341C>G (p.Pro447=)
c.3783C>G (p.Pro1261=)
c.2103C>G (p.Pro701=)
Xg.108668482C>TCA334046986COL4A5c.3768C>T (p.Pro1256=)
c.3444C>T (p.Pro1148=)
c.1341C>T (p.Pro447=)
c.3783C>T (p.Pro1261=)
c.2103C>T (p.Pro701=)
 dbSNP
Xg.108668483C>ACA413849101COL4A5c.3769C>A (p.Gln1257Lys)
c.3445C>A (p.Gln1149Lys)
c.1342C>A (p.Gln448Lys)
c.3784C>A (p.Gln1262Lys)
c.2104C>A (p.Gln702Lys)
Xg.108668483C=CA2450712983COL4A5c.3769C= (p.Gln1257=)
c.3445C= (p.Gln1149=)
c.1342C= (p.Gln448=)
c.3784C= (p.Gln1262=)
c.2104C= (p.Gln702=)
Xg.108668483C>GCA413849103COL4A5c.3769C>G (p.Gln1257Glu)
c.3445C>G (p.Gln1149Glu)
c.1342C>G (p.Gln448Glu)
c.3784C>G (p.Gln1262Glu)
c.2104C>G (p.Gln702Glu)
Xg.108668483C>TCA413849104COL4A5c.3769C>T (p.Gln1257Ter)
c.3445C>T (p.Gln1149Ter)
c.1342C>T (p.Gln448Ter)
c.3784C>T (p.Gln1262Ter)
c.2104C>T (p.Gln702Ter)
 ClinVar dbSNP
Xg.108668484A=CA2450712984COL4A5c.3770A= (p.Gln1257=)
c.3446A= (p.Gln1149=)
c.1343A= (p.Gln448=)
c.3785A= (p.Gln1262=)
c.2105A= (p.Gln702=)
Xg.108668484A>CCA413849105COL4A5c.3770A>C (p.Gln1257Pro)
c.3446A>C (p.Gln1149Pro)
c.1343A>C (p.Gln448Pro)
c.3785A>C (p.Gln1262Pro)
c.2105A>C (p.Gln702Pro)
Xg.108668484A>GCA413849106COL4A5c.3770A>G (p.Gln1257Arg)
c.3446A>G (p.Gln1149Arg)
c.1343A>G (p.Gln448Arg)
c.3785A>G (p.Gln1262Arg)
c.2105A>G (p.Gln702Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668484A>TCA413849108COL4A5c.3770A>T (p.Gln1257Leu)
c.3446A>T (p.Gln1149Leu)
c.1343A>T (p.Gln448Leu)
c.3785A>T (p.Gln1262Leu)
c.2105A>T (p.Gln702Leu)
 COSMIC
Xg.108668485A=CA2450712985COL4A5c.3771A= (p.Gln1257=)
c.3447A= (p.Gln1149=)
c.1344A= (p.Gln448=)
c.3786A= (p.Gln1262=)
c.2106A= (p.Gln702=)
Xg.108668485A>CCA413849112COL4A5c.3771A>C (p.Gln1257His)
c.3447A>C (p.Gln1149His)
c.1344A>C (p.Gln448His)
c.3786A>C (p.Gln1262His)
c.2106A>C (p.Gln702His)
 dbSNP gnomAD v2 gnomAD v4
Xg.108668485A>GCA10489165COL4A5c.3771A>G (p.Gln1257=)
c.3447A>G (p.Gln1149=)
c.1344A>G (p.Gln448=)
c.3786A>G (p.Gln1262=)
c.2106A>G (p.Gln702=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668485A>TCA10489166COL4A5c.3771A>T (p.Gln1257His)
c.3447A>T (p.Gln1149His)
c.1344A>T (p.Gln448His)
c.3786A>T (p.Gln1262His)
c.2106A>T (p.Gln702His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668486G>ACA413849115COL4A5c.3772G>A (p.Gly1258Ser)
c.3448G>A (p.Gly1150Ser)
c.1345G>A (p.Gly449Ser)
c.3787G>A (p.Gly1263Ser)
c.2107G>A (p.Gly703Ser)
 ClinVar dbSNP
Xg.108668486G>CCA413849116COL4A5c.3772G>C (p.Gly1258Arg)
c.3448G>C (p.Gly1150Arg)
c.1345G>C (p.Gly449Arg)
c.3787G>C (p.Gly1263Arg)
c.2107G>C (p.Gly703Arg)
Xg.108668486G=CA2450712986COL4A5c.3772G= (p.Gly1258=)
c.3448G= (p.Gly1150=)
c.1345G= (p.Gly449=)
c.3787G= (p.Gly1263=)
c.2107G= (p.Gly703=)
Xg.108668486G>TCA413849118COL4A5c.3772G>T (p.Gly1258Cys)
c.3448G>T (p.Gly1150Cys)
c.1345G>T (p.Gly449Cys)
c.3787G>T (p.Gly1263Cys)
c.2107G>T (p.Gly703Cys)
Xg.108668487G>ACA413849120COL4A5c.3773G>A (p.Gly1258Asp)
c.3449G>A (p.Gly1150Asp)
c.1346G>A (p.Gly449Asp)
c.3788G>A (p.Gly1263Asp)
c.2108G>A (p.Gly703Asp)
 ClinVar
Xg.108668487G>CCA413849122COL4A5c.3773G>C (p.Gly1258Ala)
c.3449G>C (p.Gly1150Ala)
c.1346G>C (p.Gly449Ala)
c.3788G>C (p.Gly1263Ala)
c.2108G>C (p.Gly703Ala)
Xg.108668487G>TCA413849123COL4A5c.3773G>T (p.Gly1258Val)
c.3449G>T (p.Gly1150Val)
c.1346G>T (p.Gly449Val)
c.3788G>T (p.Gly1263Val)
c.2108G>T (p.Gly703Val)
 ClinVar
Xg.108668488T>ACA517922752COL4A5c.3774T>A (p.Gly1258=)
c.3450T>A (p.Gly1150=)
c.1347T>A (p.Gly449=)
c.3789T>A (p.Gly1263=)
c.2109T>A (p.Gly703=)
 gnomAD v4
Xg.108668488T>CCA517922753COL4A5c.3774T>C (p.Gly1258=)
c.3450T>C (p.Gly1150=)
c.1347T>C (p.Gly449=)
c.3789T>C (p.Gly1263=)
c.2109T>C (p.Gly703=)
Xg.108668488T>GCA517922754COL4A5c.3774T>G (p.Gly1258=)
c.3450T>G (p.Gly1150=)
c.1347T>G (p.Gly449=)
c.3789T>G (p.Gly1263=)
c.2109T>G (p.Gly703=)
Xg.108668489C>ACA334047031COL4A5c.3775C>A (p.Pro1259Thr)
c.3451C>A (p.Pro1151Thr)
c.1348C>A (p.Pro450Thr)
c.3790C>A (p.Pro1264Thr)
c.2110C>A (p.Pro704Thr)
 dbSNP
Xg.108668489C=CA2450712987COL4A5c.3775C= (p.Pro1259=)
c.3451C= (p.Pro1151=)
c.1348C= (p.Pro450=)
c.3790C= (p.Pro1264=)
c.2110C= (p.Pro704=)
Xg.108668489C>GCA413849126COL4A5c.3775C>G (p.Pro1259Ala)
c.3451C>G (p.Pro1151Ala)
c.1348C>G (p.Pro450Ala)
c.3790C>G (p.Pro1264Ala)
c.2110C>G (p.Pro704Ala)
Xg.108668489C>TCA413849128COL4A5c.3775C>T (p.Pro1259Ser)
c.3451C>T (p.Pro1151Ser)
c.1348C>T (p.Pro450Ser)
c.3790C>T (p.Pro1264Ser)
c.2110C>T (p.Pro704Ser)
Xg.108668490C>ACA413849130COL4A5c.3776C>A (p.Pro1259His)
c.3452C>A (p.Pro1151His)
c.1349C>A (p.Pro450His)
c.3791C>A (p.Pro1264His)
c.2111C>A (p.Pro704His)
Xg.108668490C>GCA413849132COL4A5c.3776C>G (p.Pro1259Arg)
c.3452C>G (p.Pro1151Arg)
c.1349C>G (p.Pro450Arg)
c.3791C>G (p.Pro1264Arg)
c.2111C>G (p.Pro704Arg)
Xg.108668490C>TCA413849134COL4A5c.3776C>T (p.Pro1259Leu)
c.3452C>T (p.Pro1151Leu)
c.1349C>T (p.Pro450Leu)
c.3791C>T (p.Pro1264Leu)
c.2111C>T (p.Pro704Leu)
Xg.108668491T>ACA517922755COL4A5c.3777T>A (p.Pro1259=)
c.3453T>A (p.Pro1151=)
c.1350T>A (p.Pro450=)
c.3792T>A (p.Pro1264=)
c.2112T>A (p.Pro704=)
Xg.108668491T>CCA517922756COL4A5c.3777T>C (p.Pro1259=)
c.3453T>C (p.Pro1151=)
c.1350T>C (p.Pro450=)
c.3792T>C (p.Pro1264=)
c.2112T>C (p.Pro704=)
Xg.108668491T>GCA517922757COL4A5c.3777T>G (p.Pro1259=)
c.3453T>G (p.Pro1151=)
c.1350T>G (p.Pro450=)
c.3792T>G (p.Pro1264=)
c.2112T>G (p.Pro704=)
Xg.108668492C>ACA413849139COL4A5c.3778C>A (p.Pro1260Thr)
c.3454C>A (p.Pro1152Thr)
c.1351C>A (p.Pro451Thr)
c.3793C>A (p.Pro1265Thr)
c.2113C>A (p.Pro705Thr)
 gnomAD v4
Xg.108668492C=CA2450712988COL4A5c.3778C= (p.Pro1260=)
c.3454C= (p.Pro1152=)
c.1351C= (p.Pro451=)
c.3793C= (p.Pro1265=)
c.2113C= (p.Pro705=)
Xg.108668492C>GCA334047034COL4A5c.3778C>G (p.Pro1260Ala)
c.3454C>G (p.Pro1152Ala)
c.1351C>G (p.Pro451Ala)
c.3793C>G (p.Pro1265Ala)
c.2113C>G (p.Pro705Ala)
 dbSNP
Xg.108668492C>TCA413849137COL4A5c.3778C>T (p.Pro1260Ser)
c.3454C>T (p.Pro1152Ser)
c.1351C>T (p.Pro451Ser)
c.3793C>T (p.Pro1265Ser)
c.2113C>T (p.Pro705Ser)
Xg.108668493C>ACA413849141COL4A5c.3779C>A (p.Pro1260His)
c.3455C>A (p.Pro1152His)
c.1352C>A (p.Pro451His)
c.3794C>A (p.Pro1265His)
c.2114C>A (p.Pro705His)
Xg.108668493C=CA2450712989COL4A5c.3779C= (p.Pro1260=)
c.3455C= (p.Pro1152=)
c.1352C= (p.Pro451=)
c.3794C= (p.Pro1265=)
c.2114C= (p.Pro705=)
Xg.108668493C>GCA413849143COL4A5c.3779C>G (p.Pro1260Arg)
c.3455C>G (p.Pro1152Arg)
c.1352C>G (p.Pro451Arg)
c.3794C>G (p.Pro1265Arg)
c.2114C>G (p.Pro705Arg)
Xg.108668493C>TCA413849145COL4A5c.3779C>T (p.Pro1260Leu)
c.3455C>T (p.Pro1152Leu)
c.1352C>T (p.Pro451Leu)
c.3794C>T (p.Pro1265Leu)
c.2114C>T (p.Pro705Leu)
 dbSNP gnomAD v4
Xg.108668494T>ACA517922759COL4A5c.3780T>A (p.Pro1260=)
c.3456T>A (p.Pro1152=)
c.1353T>A (p.Pro451=)
c.3795T>A (p.Pro1265=)
c.2115T>A (p.Pro705=)
Xg.108668494T>CCA517922760COL4A5c.3780T>C (p.Pro1260=)
c.3456T>C (p.Pro1152=)
c.1353T>C (p.Pro451=)
c.3795T>C (p.Pro1265=)
c.2115T>C (p.Pro705=)
Xg.108668494T>GCA517922758COL4A5c.3780T>G (p.Pro1260=)
c.3456T>G (p.Pro1152=)
c.1353T>G (p.Pro451=)
c.3795T>G (p.Pro1265=)
c.2115T>G (p.Pro705=)
Xg.108668495G>ACA413849147COL4A5c.3781G>A (p.Gly1261Arg)
c.3457G>A (p.Gly1153Arg)
c.1354G>A (p.Gly452Arg)
c.3796G>A (p.Gly1266Arg)
c.2116G>A (p.Gly706Arg)
 ClinVar dbSNP
Xg.108668495G>CCA413849148COL4A5c.3781G>C (p.Gly1261Arg)
c.3457G>C (p.Gly1153Arg)
c.1354G>C (p.Gly452Arg)
c.3796G>C (p.Gly1266Arg)
c.2116G>C (p.Gly706Arg)
Xg.108668495G>TCA413849149COL4A5c.3781G>T (p.Gly1261Trp)
c.3457G>T (p.Gly1153Trp)
c.1354G>T (p.Gly452Trp)
c.3796G>T (p.Gly1266Trp)
c.2116G>T (p.Gly706Trp)
Xg.108668496_108668497delCA2580100190COL4A5c.3782_3783del (p.Gly1261GlufsTer26)
c.3782_3783del (p.Gly1261GlufsTer20)
c.3782_3783del (p.Gly1261GlufsTer23)
c.3458_3459del (p.Gly1153GlufsTer26)
c.3782_3783del (p.Gly1261GlufsTer28)
c.1355_1356del (p.Gly452GlufsTer26)
c.3797_3798del (p.Gly1266GlufsTer26)
c.3797_3798del (p.Gly1266GlufsTer23)
c.3797_3798del (p.Gly1266GlufsTer20)
c.3797_3798del (p.Gly1266GlufsTer28)
c.2117_2118del (p.Gly706GlufsTer26)
 ClinVar
Xg.108668496G>ACA258955COL4A5c.3782G>A (p.Gly1261Glu)
c.3458G>A (p.Gly1153Glu)
c.1355G>A (p.Gly452Glu)
c.3797G>A (p.Gly1266Glu)
c.2117G>A (p.Gly706Glu)
 ClinVar dbSNP
Xg.108668496G>CCA413849152COL4A5c.3782G>C (p.Gly1261Ala)
c.3458G>C (p.Gly1153Ala)
c.1355G>C (p.Gly452Ala)
c.3797G>C (p.Gly1266Ala)
c.2117G>C (p.Gly706Ala)
Xg.108668496G=CA2450712990COL4A5c.3782G= (p.Gly1261=)
c.3458G= (p.Gly1153=)
c.1355G= (p.Gly452=)
c.3797G= (p.Gly1266=)
c.2117G= (p.Gly706=)
Xg.108668496G>TCA413849153COL4A5c.3782G>T (p.Gly1261Val)
c.3458G>T (p.Gly1153Val)
c.1355G>T (p.Gly452Val)
c.3797G>T (p.Gly1266Val)
c.2117G>T (p.Gly706Val)
Xg.108668497G>ACA517922763COL4A5c.3783G>A (p.Gly1261=)
c.3459G>A (p.Gly1153=)
c.1356G>A (p.Gly452=)
c.3798G>A (p.Gly1266=)
c.2118G>A (p.Gly706=)
 COSMIC COSMIC
Xg.108668497G>CCA517922761COL4A5c.3783G>C (p.Gly1261=)
c.3459G>C (p.Gly1153=)
c.1356G>C (p.Gly452=)
c.3798G>C (p.Gly1266=)
c.2118G>C (p.Gly706=)
 gnomAD v4
Xg.108668497G>TCA517922762COL4A5c.3783G>T (p.Gly1261=)
c.3459G>T (p.Gly1153=)
c.1356G>T (p.Gly452=)
c.3798G>T (p.Gly1266=)
c.2118G>T (p.Gly706=)
Xg.108668498delCA2580100191COL4A5c.3784del (p.Arg1262AspfsTer?)
c.3460del (p.Arg1154AspfsTer?)
c.1357del (p.Arg453AspfsTer?)
c.3799del (p.Arg1267AspfsTer?)
c.2119del (p.Arg707AspfsTer?)
 ClinVar
Xg.108668498A>CCA517922764COL4A5c.3784A>C (p.Arg1262=)
c.3460A>C (p.Arg1154=)
c.1357A>C (p.Arg453=)
c.3799A>C (p.Arg1267=)
c.2119A>C (p.Arg707=)
Xg.108668498A>GCA413849155COL4A5c.3784A>G (p.Arg1262Gly)
c.3460A>G (p.Arg1154Gly)
c.1357A>G (p.Arg453Gly)
c.3799A>G (p.Arg1267Gly)
c.2119A>G (p.Arg707Gly)
Xg.108668498A>TCA413849157COL4A5c.3784A>T (p.Arg1262Ter)
c.3460A>T (p.Arg1154Ter)
c.1357A>T (p.Arg453Ter)
c.3799A>T (p.Arg1267Ter)
c.2119A>T (p.Arg707Ter)
 ClinVar
Xg.108668499G>ACA413849160COL4A5c.3785G>A (p.Arg1262Lys)
c.3461G>A (p.Arg1154Lys)
c.1358G>A (p.Arg453Lys)
c.3800G>A (p.Arg1267Lys)
c.2120G>A (p.Arg707Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668499G>CCA413849162COL4A5c.3785G>C (p.Arg1262Thr)
c.3461G>C (p.Arg1154Thr)
c.1358G>C (p.Arg453Thr)
c.3800G>C (p.Arg1267Thr)
c.2120G>C (p.Arg707Thr)
Xg.108668499G=CA2450712991COL4A5c.3785G= (p.Arg1262=)
c.3461G= (p.Arg1154=)
c.1358G= (p.Arg453=)
c.3800G= (p.Arg1267=)
c.2120G= (p.Arg707=)
Xg.108668499G>TCA413849158COL4A5c.3785G>T (p.Arg1262Ile)
c.3461G>T (p.Arg1154Ile)
c.1358G>T (p.Arg453Ile)
c.3800G>T (p.Arg1267Ile)
c.2120G>T (p.Arg707Ile)
Xg.108668500A>CCA413849165COL4A5c.3786A>C (p.Arg1262Ser)
c.3462A>C (p.Arg1154Ser)
c.1359A>C (p.Arg453Ser)
c.3801A>C (p.Arg1267Ser)
c.2121A>C (p.Arg707Ser)
Xg.108668500A>GCA517922765COL4A5c.3786A>G (p.Arg1262=)
c.3462A>G (p.Arg1154=)
c.1359A>G (p.Arg453=)
c.3801A>G (p.Arg1267=)
c.2121A>G (p.Arg707=)
 gnomAD v4
Xg.108668500A>TCA413849163COL4A5c.3786A>T (p.Arg1262Ser)
c.3462A>T (p.Arg1154Ser)
c.1359A>T (p.Arg453Ser)
c.3801A>T (p.Arg1267Ser)
c.2121A>T (p.Arg707Ser)
Xg.108668501C>ACA413849167COL4A5c.3787C>A (p.Pro1263Thr)
c.3463C>A (p.Pro1155Thr)
c.1360C>A (p.Pro454Thr)
c.3802C>A (p.Pro1268Thr)
c.2122C>A (p.Pro708Thr)
 dbSNP
Xg.108668501C=CA2450712992COL4A5c.3787C= (p.Pro1263=)
c.3463C= (p.Pro1155=)
c.1360C= (p.Pro454=)
c.3802C= (p.Pro1268=)
c.2122C= (p.Pro708=)
Xg.108668501C>GCA413849168COL4A5c.3787C>G (p.Pro1263Ala)
c.3463C>G (p.Pro1155Ala)
c.1360C>G (p.Pro454Ala)
c.3802C>G (p.Pro1268Ala)
c.2122C>G (p.Pro708Ala)
Xg.108668501C>TCA334047053COL4A5c.3787C>T (p.Pro1263Ser)
c.3463C>T (p.Pro1155Ser)
c.1360C>T (p.Pro454Ser)
c.3802C>T (p.Pro1268Ser)
c.2122C>T (p.Pro708Ser)
 ClinVar dbSNP
Xg.108668502delCA2579676919COL4A5c.3788del (p.Pro1263GlnfsTer?)
c.3464del (p.Pro1155GlnfsTer?)
c.1361del (p.Pro454GlnfsTer?)
c.3803del (p.Pro1268GlnfsTer?)
c.2123del (p.Pro708GlnfsTer?)
Xg.108668502C>ACA413849171COL4A5c.3788C>A (p.Pro1263Gln)
c.3464C>A (p.Pro1155Gln)
c.1361C>A (p.Pro454Gln)
c.3803C>A (p.Pro1268Gln)
c.2123C>A (p.Pro708Gln)
 gnomAD v4
Xg.108668502C>GCA413849173COL4A5c.3788C>G (p.Pro1263Arg)
c.3464C>G (p.Pro1155Arg)
c.1361C>G (p.Pro454Arg)
c.3803C>G (p.Pro1268Arg)
c.2123C>G (p.Pro708Arg)
Xg.108668502C>TCA413849175COL4A5c.3788C>T (p.Pro1263Leu)
c.3464C>T (p.Pro1155Leu)
c.1361C>T (p.Pro454Leu)
c.3803C>T (p.Pro1268Leu)
c.2123C>T (p.Pro708Leu)
 gnomAD v4
Xg.108668503A>CCA517922766COL4A5c.3789A>C (p.Pro1263=)
c.3465A>C (p.Pro1155=)
c.1362A>C (p.Pro454=)
c.3804A>C (p.Pro1268=)
c.2124A>C (p.Pro708=)
Xg.108668503A>GCA517922767COL4A5c.3789A>G (p.Pro1263=)
c.3465A>G (p.Pro1155=)
c.1362A>G (p.Pro454=)
c.3804A>G (p.Pro1268=)
c.2124A>G (p.Pro708=)
Xg.108668503A>TCA517922768COL4A5c.3789A>T (p.Pro1263=)
c.3465A>T (p.Pro1155=)
c.1362A>T (p.Pro454=)
c.3804A>T (p.Pro1268=)
c.2124A>T (p.Pro708=)
Xg.108668503_108668504delinsAGCA2450712993COL4A5c.3789_3790delinsAG (p.Pro1263=)
c.3465_3466delinsAG (p.Pro1155=)
c.1362_1363delinsAG (p.Pro454=)
c.3804_3805delinsAG (p.Pro1268=)
c.2124_2125delinsAG (p.Pro708=)
Xg.108668504G>ACA413849176COL4A5c.3790G>A (p.Gly1264Ser)
c.3466G>A (p.Gly1156Ser)
c.1363G>A (p.Gly455Ser)
c.3805G>A (p.Gly1269Ser)
c.2125G>A (p.Gly709Ser)
Xg.108668504G>CCA413849179COL4A5c.3790G>C (p.Gly1264Arg)
c.3466G>C (p.Gly1156Arg)
c.1363G>C (p.Gly455Arg)
c.3805G>C (p.Gly1269Arg)
c.2125G>C (p.Gly709Arg)
Xg.108668504G>TCA413849177COL4A5c.3790G>T (p.Gly1264Cys)
c.3466G>T (p.Gly1156Cys)
c.1363G>T (p.Gly455Cys)
c.3805G>T (p.Gly1269Cys)
c.2125G>T (p.Gly709Cys)
Xg.108668505delCA258957COL4A5c.3790+1del
c.3466+1del
c.1363+1del
c.3805+1del
c.2125+1del
 dbSNP
Xg.108668505G>ACA413849181COL4A5c.3790+1G>A (n.3790+1G>A)
c.3466+1G>A (n.3466+1G>A)
c.1363+1G>A (n.1363+1G>A)
c.3805+1G>A (n.3805+1G>A)
c.2125+1G>A (n.2125+1G>A)
Xg.108668505G>CCA413849182COL4A5c.3790+1G>C (n.3790+1G>C)
c.3466+1G>C (n.3466+1G>C)
c.1363+1G>C (n.1363+1G>C)
c.3805+1G>C (n.3805+1G>C)
c.2125+1G>C (n.2125+1G>C)
Xg.108668505G>TCA413849183COL4A5c.3790+1G>T (n.3790+1G>T)
c.3466+1G>T (n.3466+1G>T)
c.1363+1G>T (n.1363+1G>T)
c.3805+1G>T (n.3805+1G>T)
c.2125+1G>T (n.2125+1G>T)
Xg.108668506T>ACA413849184COL4A5c.3790+2T>A (n.3790+2T>A)
c.3466+2T>A (n.3466+2T>A)
c.1363+2T>A (n.1363+2T>A)
c.3805+2T>A (n.3805+2T>A)
c.2125+2T>A (n.2125+2T>A)
Xg.108668506T>CCA413849186COL4A5c.3790+2T>C (n.3790+2T>C)
c.3466+2T>C (n.3466+2T>C)
c.1363+2T>C (n.1363+2T>C)
c.3805+2T>C (n.3805+2T>C)
c.2125+2T>C (n.2125+2T>C)
Xg.108668506T>GCA413849185COL4A5c.3790+2T>G (n.3790+2T>G)
c.3466+2T>G (n.3466+2T>G)
c.1363+2T>G (n.1363+2T>G)
c.3805+2T>G (n.3805+2T>G)
c.2125+2T>G (n.2125+2T>G)
Xg.108668509G>ACA10489167COL4A5c.3790+5G>A (n.3790+5G>A)
c.3466+5G>A (n.3466+5G>A)
c.1363+5G>A (n.1363+5G>A)
c.3805+5G>A (n.3805+5G>A)
c.2125+5G>A (n.2125+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668509G=CA2450712994COL4A5c.3790+5G= (n.3790+5G=)
c.3466+5G= (n.3466+5G=)
c.1363+5G= (n.1363+5G=)
c.3805+5G= (n.3805+5G=)
c.2125+5G= (n.2125+5G=)
Xg.108668511C>ACA2558113611COL4A5c.3790+7C>A (n.3790+7C>A)
c.3466+7C>A (n.3466+7C>A)
c.1363+7C>A (n.1363+7C>A)
c.3805+7C>A (n.3805+7C>A)
c.2125+7C>A (n.2125+7C>A)
Xg.108668512C>ACA10489169COL4A5c.3790+8C>A (n.3790+8C>A)
c.3466+8C>A (n.3466+8C>A)
c.1363+8C>A (n.1363+8C>A)
c.3805+8C>A (n.3805+8C>A)
c.2125+8C>A (n.2125+8C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668512C=CA2450712995COL4A5c.3790+8C= (n.3790+8C=)
c.3466+8C= (n.3466+8C=)
c.1363+8C= (n.1363+8C=)
c.3805+8C= (n.3805+8C=)
c.2125+8C= (n.2125+8C=)
Xg.108668512C>TCA10489168COL4A5c.3790+8C>T (n.3790+8C>T)
c.3466+8C>T (n.3466+8C>T)
c.1363+8C>T (n.1363+8C>T)
c.3805+8C>T (n.3805+8C>T)
c.2125+8C>T (n.2125+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668513G>ACA10489170COL4A5c.3790+9G>A (n.3790+9G>A)
c.3466+9G>A (n.3466+9G>A)
c.1363+9G>A (n.1363+9G>A)
c.3805+9G>A (n.3805+9G>A)
c.2125+9G>A (n.2125+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108668513G=CA2450712996COL4A5c.3790+9G= (n.3790+9G=)
c.3466+9G= (n.3466+9G=)
c.1363+9G= (n.1363+9G=)
c.3805+9G= (n.3805+9G=)
c.2125+9G= (n.2125+9G=)
Xg.108668515G>ACA643636687COL4A5c.3790+11G>A (n.3790+11G>A)
c.3466+11G>A (n.3466+11G>A)
c.1363+11G>A (n.1363+11G>A)
c.3805+11G>A (n.3805+11G>A)
c.2125+11G>A (n.2125+11G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108668515G=CA2450712997COL4A5c.3790+11G= (n.3790+11G=)
c.3466+11G= (n.3466+11G=)
c.1363+11G= (n.1363+11G=)
c.3805+11G= (n.3805+11G=)
c.2125+11G= (n.2125+11G=)
Xg.108668515G>TCA2694441656COL4A5c.3790+11G>T (n.3790+11G>T)
c.3466+11G>T (n.3466+11G>T)
c.1363+11G>T (n.1363+11G>T)
c.3805+11G>T (n.3805+11G>T)
c.2125+11G>T (n.2125+11G>T)
 gnomAD v4
Xg.108668517G>ACA869813449COL4A5c.3790+13G>A (n.3790+13G>A)
c.3466+13G>A (n.3466+13G>A)
c.1363+13G>A (n.1363+13G>A)
c.3805+13G>A (n.3805+13G>A)
c.2125+13G>A (n.2125+13G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668517G=CA2450712998COL4A5c.3790+13G= (n.3790+13G=)
c.3466+13G= (n.3466+13G=)
c.1363+13G= (n.1363+13G=)
c.3805+13G= (n.3805+13G=)
c.2125+13G= (n.2125+13G=)
Xg.108668519G>TCA2694441657COL4A5c.3790+15G>T (n.3790+15G>T)
c.3466+15G>T (n.3466+15G>T)
c.1363+15G>T (n.1363+15G>T)
c.3805+15G>T (n.3805+15G>T)
c.2125+15G>T (n.2125+15G>T)
 gnomAD v4
Xg.108668520G>CCA1136189507COL4A5c.3790+16G>C (n.3790+16G>C)
c.3466+16G>C (n.3466+16G>C)
c.1363+16G>C (n.1363+16G>C)
c.3805+16G>C (n.3805+16G>C)
c.2125+16G>C (n.2125+16G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668520G=CA2450712999COL4A5c.3790+16G= (n.3790+16G=)
c.3466+16G= (n.3466+16G=)
c.1363+16G= (n.1363+16G=)
c.3805+16G= (n.3805+16G=)
c.2125+16G= (n.2125+16G=)
Xg.108668520G>TCA869813452COL4A5c.3790+16G>T (n.3790+16G>T)
c.3466+16G>T (n.3466+16G>T)
c.1363+16G>T (n.1363+16G>T)
c.3805+16G>T (n.3805+16G>T)
c.2125+16G>T (n.2125+16G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108668521delCA2579676920COL4A5c.3790+17del (n.3790+17del)
c.3466+17del (n.3466+17del)
c.1363+17del (n.1363+17del)
c.3805+17del (n.3805+17del)
c.2125+17del (n.2125+17del)
Xg.108668522A=CA2450713000COL4A5c.3790+18A= (n.3790+18A=)
c.3466+18A= (n.3466+18A=)
c.1363+18A= (n.1363+18A=)
c.3805+18A= (n.3805+18A=)
c.2125+18A= (n.2125+18A=)
Xg.108668522A>GCA10489171COL4A5c.3790+18A>G (n.3790+18A>G)
c.3466+18A>G (n.3466+18A>G)
c.1363+18A>G (n.1363+18A>G)
c.3805+18A>G (n.3805+18A>G)
c.2125+18A>G (n.2125+18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668522A>TCA643636688COL4A5c.3790+18A>T (n.3790+18A>T)
c.3466+18A>T (n.3466+18A>T)
c.1363+18A>T (n.1363+18A>T)
c.3805+18A>T (n.3805+18A>T)
c.2125+18A>T (n.2125+18A>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108668523G>ACA2694441658COL4A5c.3790+19G>A (n.3790+19G>A)
c.3466+19G>A (n.3466+19G>A)
c.1363+19G>A (n.1363+19G>A)
c.3805+19G>A (n.3805+19G>A)
c.2125+19G>A (n.2125+19G>A)
 gnomAD v4
Xg.108668524G>ACA2694441659COL4A5c.3790+20G>A (n.3790+20G>A)
c.3466+20G>A (n.3466+20G>A)
c.1363+20G>A (n.1363+20G>A)
c.3805+20G>A (n.3805+20G>A)
c.2125+20G>A (n.2125+20G>A)
 gnomAD v4
Xg.108668525A=CA2450713001COL4A5c.3790+21A= (n.3790+21A=)
c.3466+21A= (n.3466+21A=)
c.1363+21A= (n.1363+21A=)
c.3805+21A= (n.3805+21A=)
c.2125+21A= (n.2125+21A=)
Xg.108668525A>GCA10489172COL4A5c.3790+21A>G (n.3790+21A>G)
c.3466+21A>G (n.3466+21A>G)
c.1363+21A>G (n.1363+21A>G)
c.3805+21A>G (n.3805+21A>G)
c.2125+21A>G (n.2125+21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108668526G>ACA2579676921COL4A5c.3790+22G>A (n.3790+22G>A)
c.3466+22G>A (n.3466+22G>A)
c.1363+22G>A (n.1363+22G>A)
c.3805+22G>A (n.3805+22G>A)
c.2125+22G>A (n.2125+22G>A)
 gnomAD v4
Xg.108668526G>CCA2579676922COL4A5c.3790+22G>C (n.3790+22G>C)
c.3466+22G>C (n.3466+22G>C)
c.1363+22G>C (n.1363+22G>C)
c.3805+22G>C (n.3805+22G>C)
c.2125+22G>C (n.2125+22G>C)
Xg.108668527A>GCA2694441660COL4A5c.3790+23A>G (n.3790+23A>G)
c.3466+23A>G (n.3466+23A>G)
c.1363+23A>G (n.1363+23A>G)
c.3805+23A>G (n.3805+23A>G)
c.2125+23A>G (n.2125+23A>G)
 gnomAD v4
Xg.108668530G=CA2450713002COL4A5c.3790+26G= (n.3790+26G=)
c.3466+26G= (n.3466+26G=)
c.1363+26G= (n.1363+26G=)
c.3805+26G= (n.3805+26G=)
c.2125+26G= (n.2125+26G=)
Xg.108668530G>TCA10489173COL4A5c.3790+26G>T (n.3790+26G>T)
c.3466+26G>T (n.3466+26G>T)
c.1363+26G>T (n.1363+26G>T)
c.3805+26G>T (n.3805+26G>T)
c.2125+26G>T (n.2125+26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched