Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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)

Number of alleles fetched