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_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.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.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)

Number of alleles fetched