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.108668418G>ACA413848838COL4A5c.3704G>A (p.Gly1235Asp)
c.3380G>A (p.Gly1127Asp)
c.1277G>A (p.Gly426Asp)
c.3719G>A (p.Gly1240Asp)
c.2039G>A (p.Gly680Asp)
Xg.108668418G>CCA413848840COL4A5c.3704G>C (p.Gly1235Ala)
c.3380G>C (p.Gly1127Ala)
c.1277G>C (p.Gly426Ala)
c.3719G>C (p.Gly1240Ala)
c.2039G>C (p.Gly680Ala)
ClinVar
Xg.108668418G=CA2450712955COL4A5c.3704G= (p.Gly1235=)
c.3380G= (p.Gly1127=)
c.1277G= (p.Gly426=)
c.3719G= (p.Gly1240=)
c.2039G= (p.Gly680=)
Xg.108668418G>TCA413848843COL4A5c.3704G>T (p.Gly1235Val)
c.3380G>T (p.Gly1127Val)
c.1277G>T (p.Gly426Val)
c.3719G>T (p.Gly1240Val)
c.2039G>T (p.Gly680Val)
ClinVar dbSNP
Xg.108668419T>ACA517922692COL4A5c.3705T>A (p.Gly1235=)
c.3381T>A (p.Gly1127=)
c.1278T>A (p.Gly426=)
c.3720T>A (p.Gly1240=)
c.2040T>A (p.Gly680=)
Xg.108668419T>CCA517922693COL4A5c.3705T>C (p.Gly1235=)
c.3381T>C (p.Gly1127=)
c.1278T>C (p.Gly426=)
c.3720T>C (p.Gly1240=)
c.2040T>C (p.Gly680=)
Xg.108668419T>GCA517922694COL4A5c.3705T>G (p.Gly1235=)
c.3381T>G (p.Gly1127=)
c.1278T>G (p.Gly426=)
c.3720T>G (p.Gly1240=)
c.2040T>G (p.Gly680=)
Xg.108668419T=CA2450712956COL4A5c.3705T= (p.Gly1235=)
c.3381T= (p.Gly1127=)
c.1278T= (p.Gly426=)
c.3720T= (p.Gly1240=)
c.2040T= (p.Gly680=)
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.108668420C>ACA413848856COL4A5c.3706C>A (p.Pro1236Thr)
c.3382C>A (p.Pro1128Thr)
c.1279C>A (p.Pro427Thr)
c.3721C>A (p.Pro1241Thr)
c.2041C>A (p.Pro681Thr)
COSMIC COSMIC
Xg.108668420C=CA2450712959COL4A5c.3706C= (p.Pro1236=)
c.3382C= (p.Pro1128=)
c.1279C= (p.Pro427=)
c.3721C= (p.Pro1241=)
c.2041C= (p.Pro681=)
Xg.108668420C>GCA413848855COL4A5c.3706C>G (p.Pro1236Ala)
c.3382C>G (p.Pro1128Ala)
c.1279C>G (p.Pro427Ala)
c.3721C>G (p.Pro1241Ala)
c.2041C>G (p.Pro681Ala)
ClinVar dbSNP gnomAD v4
Xg.108668420C>TCA413848852COL4A5c.3706C>T (p.Pro1236Ser)
c.3382C>T (p.Pro1128Ser)
c.1279C>T (p.Pro427Ser)
c.3721C>T (p.Pro1241Ser)
c.2041C>T (p.Pro681Ser)
dbSNP gnomAD v4
Xg.108668423_108668424dupCA258941COL4A5c.3709_3710dup (p.Gly1238GlnfsTer?)
c.3385_3386dup (p.Gly1130GlnfsTer?)
c.1282_1283dup (p.Gly429GlnfsTer?)
c.3724_3725dup (p.Gly1243GlnfsTer?)
c.2044_2045dup (p.Gly683GlnfsTer?)
dbSNP
Xg.108668424delCA2695235656COL4A5c.3710del (p.Pro1237GlnfsTer?)
c.3386del (p.Pro1129GlnfsTer?)
c.1283del (p.Pro428GlnfsTer?)
c.3725del (p.Pro1242GlnfsTer?)
c.2045del (p.Pro682GlnfsTer?)
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.108668421C>ACA413848859COL4A5c.3707C>A (p.Pro1236His)
c.3383C>A (p.Pro1128His)
c.1280C>A (p.Pro427His)
c.3722C>A (p.Pro1241His)
c.2042C>A (p.Pro681His)
Xg.108668421C>GCA413848862COL4A5c.3707C>G (p.Pro1236Arg)
c.3383C>G (p.Pro1128Arg)
c.1280C>G (p.Pro427Arg)
c.3722C>G (p.Pro1241Arg)
c.2042C>G (p.Pro681Arg)
Xg.108668421C>TCA413848865COL4A5c.3707C>T (p.Pro1236Leu)
c.3383C>T (p.Pro1128Leu)
c.1280C>T (p.Pro427Leu)
c.3722C>T (p.Pro1241Leu)
c.2042C>T (p.Pro681Leu)
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.108668422C>ACA517922695COL4A5c.3708C>A (p.Pro1236=)
c.3384C>A (p.Pro1128=)
c.1281C>A (p.Pro427=)
c.3723C>A (p.Pro1241=)
c.2043C>A (p.Pro681=)
Xg.108668422C>GCA517922696COL4A5c.3708C>G (p.Pro1236=)
c.3384C>G (p.Pro1128=)
c.1281C>G (p.Pro427=)
c.3723C>G (p.Pro1241=)
c.2043C>G (p.Pro681=)
Xg.108668422C>TCA517922697COL4A5c.3708C>T (p.Pro1236=)
c.3384C>T (p.Pro1128=)
c.1281C>T (p.Pro427=)
c.3723C>T (p.Pro1241=)
c.2043C>T (p.Pro681=)
Xg.108668423C>ACA413848870COL4A5c.3709C>A (p.Pro1237Thr)
c.3385C>A (p.Pro1129Thr)
c.1282C>A (p.Pro428Thr)
c.3724C>A (p.Pro1242Thr)
c.2044C>A (p.Pro682Thr)
Xg.108668423C>GCA413848869COL4A5c.3709C>G (p.Pro1237Ala)
c.3385C>G (p.Pro1129Ala)
c.1282C>G (p.Pro428Ala)
c.3724C>G (p.Pro1242Ala)
c.2044C>G (p.Pro682Ala)
Xg.108668423C>TCA413848872COL4A5c.3709C>T (p.Pro1237Ser)
c.3385C>T (p.Pro1129Ser)
c.1282C>T (p.Pro428Ser)
c.3724C>T (p.Pro1242Ser)
c.2044C>T (p.Pro682Ser)
COSMIC COSMIC
Xg.108668424C>ACA413848875COL4A5c.3710C>A (p.Pro1237Gln)
c.3386C>A (p.Pro1129Gln)
c.1283C>A (p.Pro428Gln)
c.3725C>A (p.Pro1242Gln)
c.2045C>A (p.Pro682Gln)
Xg.108668424C>GCA413848878COL4A5c.3710C>G (p.Pro1237Arg)
c.3386C>G (p.Pro1129Arg)
c.1283C>G (p.Pro428Arg)
c.3725C>G (p.Pro1242Arg)
c.2045C>G (p.Pro682Arg)
Xg.108668424C>TCA413848879COL4A5c.3710C>T (p.Pro1237Leu)
c.3386C>T (p.Pro1129Leu)
c.1283C>T (p.Pro428Leu)
c.3725C>T (p.Pro1242Leu)
c.2045C>T (p.Pro682Leu)
Xg.108668425A>CCA517922698COL4A5c.3711A>C (p.Pro1237=)
c.3387A>C (p.Pro1129=)
c.1284A>C (p.Pro428=)
c.3726A>C (p.Pro1242=)
c.2046A>C (p.Pro682=)
Xg.108668425A>GCA517922700COL4A5c.3711A>G (p.Pro1237=)
c.3387A>G (p.Pro1129=)
c.1284A>G (p.Pro428=)
c.3726A>G (p.Pro1242=)
c.2046A>G (p.Pro682=)
gnomAD v4
Xg.108668425A>TCA517922699COL4A5c.3711A>T (p.Pro1237=)
c.3387A>T (p.Pro1129=)
c.1284A>T (p.Pro428=)
c.3726A>T (p.Pro1242=)
c.2046A>T (p.Pro682=)
Xg.108668426G>ACA413848883COL4A5c.3712G>A (p.Gly1238Ser)
c.3388G>A (p.Gly1130Ser)
c.1285G>A (p.Gly429Ser)
c.3727G>A (p.Gly1243Ser)
c.2047G>A (p.Gly683Ser)
ClinVar dbSNP
Xg.108668426G>CCA413848886COL4A5c.3712G>C (p.Gly1238Arg)
c.3388G>C (p.Gly1130Arg)
c.1285G>C (p.Gly429Arg)
c.3727G>C (p.Gly1243Arg)
c.2047G>C (p.Gly683Arg)
Xg.108668426G>TCA413848888COL4A5c.3712G>T (p.Gly1238Cys)
c.3388G>T (p.Gly1130Cys)
c.1285G>T (p.Gly429Cys)
c.3727G>T (p.Gly1243Cys)
c.2047G>T (p.Gly683Cys)
Xg.108668427G>ACA413848893COL4A5c.3713G>A (p.Gly1238Asp)
c.3389G>A (p.Gly1130Asp)
c.1286G>A (p.Gly429Asp)
c.3728G>A (p.Gly1243Asp)
c.2048G>A (p.Gly683Asp)
ClinVar
Xg.108668427G>CCA413848895COL4A5c.3713G>C (p.Gly1238Ala)
c.3389G>C (p.Gly1130Ala)
c.1286G>C (p.Gly429Ala)
c.3728G>C (p.Gly1243Ala)
c.2048G>C (p.Gly683Ala)
Xg.108668427G>TCA413848897COL4A5c.3713G>T (p.Gly1238Val)
c.3389G>T (p.Gly1130Val)
c.1286G>T (p.Gly429Val)
c.3728G>T (p.Gly1243Val)
c.2048G>T (p.Gly683Val)
Xg.108668428C>ACA517922701COL4A5c.3714C>A (p.Gly1238=)
c.3390C>A (p.Gly1130=)
c.1287C>A (p.Gly429=)
c.3729C>A (p.Gly1243=)
c.2049C>A (p.Gly683=)
Xg.108668428C>GCA517922702COL4A5c.3714C>G (p.Gly1238=)
c.3390C>G (p.Gly1130=)
c.1287C>G (p.Gly429=)
c.3729C>G (p.Gly1243=)
c.2049C>G (p.Gly683=)
Xg.108668428C>TCA517922703COL4A5c.3714C>T (p.Gly1238=)
c.3390C>T (p.Gly1130=)
c.1287C>T (p.Gly429=)
c.3729C>T (p.Gly1243=)
c.2049C>T (p.Gly683=)
Xg.108668429C>ACA413848901COL4A5c.3715C>A (p.Pro1239Thr)
c.3391C>A (p.Pro1131Thr)
c.1288C>A (p.Pro430Thr)
c.3730C>A (p.Pro1244Thr)
c.2050C>A (p.Pro684Thr)
Xg.108668429C>GCA413848903COL4A5c.3715C>G (p.Pro1239Ala)
c.3391C>G (p.Pro1131Ala)
c.1288C>G (p.Pro430Ala)
c.3730C>G (p.Pro1244Ala)
c.2050C>G (p.Pro684Ala)

Number of alleles fetched