Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108621760A=CA2450696547COL4A5c.2678-43A= (n.2678-43A=)
n.2134-43A=
c.2354-43A= (n.2354-43A=)
c.251-43A= (n.251-43A=)
c.2693-43A= (n.2693-43A=)
c.1013-43A= (n.1013-43A=)
Xg.108621760A>GCA10488961COL4A5c.2678-43A>G (n.2678-43A>G)
n.2134-43A>G
c.2354-43A>G (n.2354-43A>G)
c.251-43A>G (n.251-43A>G)
c.2693-43A>G (n.2693-43A>G)
c.1013-43A>G (n.1013-43A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108621762G>ACA869814345COL4A5c.2678-41G>A (n.2678-41G>A)
n.2134-41G>A
c.2354-41G>A (n.2354-41G>A)
c.251-41G>A (n.251-41G>A)
c.2693-41G>A (n.2693-41G>A)
c.1013-41G>A (n.1013-41G>A)
 dbSNP
Xg.108621762G=CA2450696548COL4A5c.2678-41G= (n.2678-41G=)
n.2134-41G=
c.2354-41G= (n.2354-41G=)
c.251-41G= (n.251-41G=)
c.2693-41G= (n.2693-41G=)
c.1013-41G= (n.1013-41G=)
Xg.108621764C>ACA2694440131COL4A5c.2678-39C>A (n.2678-39C>A)
n.2134-39C>A
c.2354-39C>A (n.2354-39C>A)
c.251-39C>A (n.251-39C>A)
c.2693-39C>A (n.2693-39C>A)
c.1013-39C>A (n.1013-39C>A)
 gnomAD v4
Xg.108621765A=CA2450696549COL4A5c.2678-38A= (n.2678-38A=)
n.2134-38A=
c.2354-38A= (n.2354-38A=)
c.251-38A= (n.251-38A=)
c.2693-38A= (n.2693-38A=)
c.1013-38A= (n.1013-38A=)
Xg.108621765A>CCA2450696550COL4A5c.2678-38A>C (n.2678-38A>C)
n.2134-38A>C
c.2354-38A>C (n.2354-38A>C)
c.251-38A>C (n.251-38A>C)
c.2693-38A>C (n.2693-38A>C)
c.1013-38A>C (n.1013-38A>C)
 dbSNP
Xg.108621771A>TCA2694440132COL4A5c.2678-32A>T (n.2678-32A>T)
n.2134-32A>T
c.2354-32A>T (n.2354-32A>T)
c.251-32A>T (n.251-32A>T)
c.2693-32A>T (n.2693-32A>T)
c.1013-32A>T (n.1013-32A>T)
 gnomAD v4
Xg.108621772G>ACA2579676552COL4A5c.2678-31G>A (n.2678-31G>A)
n.2134-31G>A
c.2354-31G>A (n.2354-31G>A)
c.251-31G>A (n.251-31G>A)
c.2693-31G>A (n.2693-31G>A)
c.1013-31G>A (n.1013-31G>A)
 gnomAD v4
Xg.108621773G>ACA2694440133COL4A5c.2678-30G>A (n.2678-30G>A)
n.2134-30G>A
c.2354-30G>A (n.2354-30G>A)
c.251-30G>A (n.251-30G>A)
c.2693-30G>A (n.2693-30G>A)
c.1013-30G>A (n.1013-30G>A)
 gnomAD v4
Xg.108621774C>ACA2694440134COL4A5c.2678-29C>A (n.2678-29C>A)
n.2134-29C>A
c.2354-29C>A (n.2354-29C>A)
c.251-29C>A (n.251-29C>A)
c.2693-29C>A (n.2693-29C>A)
c.1013-29C>A (n.1013-29C>A)
 gnomAD v4
Xg.108621777A=CA2450696551COL4A5c.2678-26A= (n.2678-26A=)
n.2134-26A=
c.2354-26A= (n.2354-26A=)
c.251-26A= (n.251-26A=)
c.2693-26A= (n.2693-26A=)
c.1013-26A= (n.1013-26A=)
Xg.108621777A>GCA10488962COL4A5c.2678-26A>G (n.2678-26A>G)
n.2134-26A>G
c.2354-26A>G (n.2354-26A>G)
c.251-26A>G (n.251-26A>G)
c.2693-26A>G (n.2693-26A>G)
c.1013-26A>G (n.1013-26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108621778C>ACA2694440135COL4A5c.2678-25C>A (n.2678-25C>A)
n.2134-25C>A
c.2354-25C>A (n.2354-25C>A)
c.251-25C>A (n.251-25C>A)
c.2693-25C>A (n.2693-25C>A)
c.1013-25C>A (n.1013-25C>A)
 gnomAD v4
Xg.108621780T>CCA2694440136COL4A5c.2678-23T>C (n.2678-23T>C)
n.2134-23T>C
c.2354-23T>C (n.2354-23T>C)
c.251-23T>C (n.251-23T>C)
c.2693-23T>C (n.2693-23T>C)
c.1013-23T>C (n.1013-23T>C)
 gnomAD v4
Xg.108621781T>ACA2450696553COL4A5c.2678-22T>A (n.2678-22T>A)
n.2134-22T>A
c.2354-22T>A (n.2354-22T>A)
c.251-22T>A (n.251-22T>A)
c.2693-22T>A (n.2693-22T>A)
c.1013-22T>A (n.1013-22T>A)
 dbSNP
Xg.108621781T>CCA2694440137COL4A5c.2678-22T>C (n.2678-22T>C)
n.2134-22T>C
c.2354-22T>C (n.2354-22T>C)
c.251-22T>C (n.251-22T>C)
c.2693-22T>C (n.2693-22T>C)
c.1013-22T>C (n.1013-22T>C)
 gnomAD v4
Xg.108621781T=CA2450696552COL4A5c.2678-22T= (n.2678-22T=)
n.2134-22T=
c.2354-22T= (n.2354-22T=)
c.251-22T= (n.251-22T=)
c.2693-22T= (n.2693-22T=)
c.1013-22T= (n.1013-22T=)
Xg.108621782A>TCA2694440138COL4A5c.2678-21A>T (n.2678-21A>T)
n.2134-21A>T
c.2354-21A>T (n.2354-21A>T)
c.251-21A>T (n.251-21A>T)
c.2693-21A>T (n.2693-21A>T)
c.1013-21A>T (n.1013-21A>T)
 gnomAD v4
Xg.108621783C>ACA2694440139COL4A5c.2678-20C>A (n.2678-20C>A)
n.2134-20C>A
c.2354-20C>A (n.2354-20C>A)
c.251-20C>A (n.251-20C>A)
c.2693-20C>A (n.2693-20C>A)
c.1013-20C>A (n.1013-20C>A)
 gnomAD v4
Xg.108621783C>TCA2579676553COL4A5c.2678-20C>T (n.2678-20C>T)
n.2134-20C>T
c.2354-20C>T (n.2354-20C>T)
c.251-20C>T (n.251-20C>T)
c.2693-20C>T (n.2693-20C>T)
c.1013-20C>T (n.1013-20C>T)
 gnomAD v4
Xg.108621785T>CCA643630485COL4A5c.2678-18T>C (n.2678-18T>C)
n.2134-18T>C
c.2354-18T>C (n.2354-18T>C)
c.251-18T>C (n.251-18T>C)
c.2693-18T>C (n.2693-18T>C)
c.1013-18T>C (n.1013-18T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108621785T=CA2450696554COL4A5c.2678-18T= (n.2678-18T=)
n.2134-18T=
c.2354-18T= (n.2354-18T=)
c.251-18T= (n.251-18T=)
c.2693-18T= (n.2693-18T=)
c.1013-18T= (n.1013-18T=)
Xg.108621786A>GCA2694440140COL4A5c.2678-17A>G (n.2678-17A>G)
n.2134-17A>G
c.2354-17A>G (n.2354-17A>G)
c.251-17A>G (n.251-17A>G)
c.2693-17A>G (n.2693-17A>G)
c.1013-17A>G (n.1013-17A>G)
 gnomAD v4
Xg.108621786A>TCA2694440141COL4A5c.2678-17A>T (n.2678-17A>T)
n.2134-17A>T
c.2354-17A>T (n.2354-17A>T)
c.251-17A>T (n.251-17A>T)
c.2693-17A>T (n.2693-17A>T)
c.1013-17A>T (n.1013-17A>T)
 gnomAD v4
Xg.108621787T>ACA10488964COL4A5c.2678-16T>A (n.2678-16T>A)
n.2134-16T>A
c.2354-16T>A (n.2354-16T>A)
c.251-16T>A (n.251-16T>A)
c.2693-16T>A (n.2693-16T>A)
c.1013-16T>A (n.1013-16T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108621787T>CCA10488963COL4A5c.2678-16T>C (n.2678-16T>C)
n.2134-16T>C
c.2354-16T>C (n.2354-16T>C)
c.251-16T>C (n.251-16T>C)
c.2693-16T>C (n.2693-16T>C)
c.1013-16T>C (n.1013-16T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108621787T=CA2450696555COL4A5c.2678-16T= (n.2678-16T=)
n.2134-16T=
c.2354-16T= (n.2354-16T=)
c.251-16T= (n.251-16T=)
c.2693-16T= (n.2693-16T=)
c.1013-16T= (n.1013-16T=)
Xg.108621788T>CCA2694440142COL4A5c.2678-15T>C (n.2678-15T>C)
n.2134-15T>C
c.2354-15T>C (n.2354-15T>C)
c.251-15T>C (n.251-15T>C)
c.2693-15T>C (n.2693-15T>C)
c.1013-15T>C (n.1013-15T>C)
 gnomAD v4
Xg.108621789G>ACA2579676554COL4A5c.2678-14G>A (n.2678-14G>A)
n.2134-14G>A
c.2354-14G>A (n.2354-14G>A)
c.251-14G>A (n.251-14G>A)
c.2693-14G>A (n.2693-14G>A)
c.1013-14G>A (n.1013-14G>A)
 gnomAD v4
Xg.108621789G>TCA2694440143COL4A5c.2678-14G>T (n.2678-14G>T)
n.2134-14G>T
c.2354-14G>T (n.2354-14G>T)
c.251-14G>T (n.251-14G>T)
c.2693-14G>T (n.2693-14G>T)
c.1013-14G>T (n.1013-14G>T)
 gnomAD v4
Xg.108621790A=CA2450696556COL4A5c.2678-13A= (n.2678-13A=)
n.2134-13A=
c.2354-13A= (n.2354-13A=)
c.251-13A= (n.251-13A=)
c.2693-13A= (n.2693-13A=)
c.1013-13A= (n.1013-13A=)
Xg.108621790A>GCA643630486COL4A5c.2678-13A>G (n.2678-13A>G)
n.2134-13A>G
c.2354-13A>G (n.2354-13A>G)
c.251-13A>G (n.251-13A>G)
c.2693-13A>G (n.2693-13A>G)
c.1013-13A>G (n.1013-13A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108621791T>ACA2599754888COL4A5c.2678-12T>A (n.2678-12T>A)
n.2134-12T>A
c.2354-12T>A (n.2354-12T>A)
c.251-12T>A (n.251-12T>A)
c.2693-12T>A (n.2693-12T>A)
c.1013-12T>A (n.1013-12T>A)
 gnomAD v3 gnomAD v4
Xg.108621792A>GCA2694440144COL4A5c.2678-11A>G (n.2678-11A>G)
n.2134-11A>G
c.2354-11A>G (n.2354-11A>G)
c.251-11A>G (n.251-11A>G)
c.2693-11A>G (n.2693-11A>G)
c.1013-11A>G (n.1013-11A>G)
 gnomAD v4
Xg.108621793T>CCA2694440145COL4A5c.2678-10T>C (n.2678-10T>C)
n.2134-10T>C
c.2354-10T>C (n.2354-10T>C)
c.251-10T>C (n.251-10T>C)
c.2693-10T>C (n.2693-10T>C)
c.1013-10T>C (n.1013-10T>C)
 gnomAD v4
Xg.108621793T>GCA258737COL4A5c.2678-10T>G (n.2678-10T>G)
n.2134-10T>G
c.2354-10T>G (n.2354-10T>G)
c.251-10T>G (n.251-10T>G)
c.2693-10T>G (n.2693-10T>G)
c.1013-10T>G (n.1013-10T>G)
 dbSNP
Xg.108621793T=CA2450696557COL4A5c.2678-10T= (n.2678-10T=)
n.2134-10T=
c.2354-10T= (n.2354-10T=)
c.251-10T= (n.251-10T=)
c.2693-10T= (n.2693-10T=)
c.1013-10T= (n.1013-10T=)
Xg.108621794T>CCA2694440146COL4A5c.2678-9T>C (n.2678-9T>C)
n.2134-9T>C
c.2354-9T>C (n.2354-9T>C)
c.251-9T>C (n.251-9T>C)
c.2693-9T>C (n.2693-9T>C)
c.1013-9T>C (n.1013-9T>C)
 gnomAD v4
Xg.108621795C>ACA2579676555COL4A5c.2678-8C>A (n.2678-8C>A)
n.2134-8C>A
c.2354-8C>A (n.2354-8C>A)
c.251-8C>A (n.251-8C>A)
c.2693-8C>A (n.2693-8C>A)
c.1013-8C>A (n.1013-8C>A)
 gnomAD v4
Xg.108621795C>TCA2694440147COL4A5c.2678-8C>T (n.2678-8C>T)
n.2134-8C>T
c.2354-8C>T (n.2354-8C>T)
c.251-8C>T (n.251-8C>T)
c.2693-8C>T (n.2693-8C>T)
c.1013-8C>T (n.1013-8C>T)
 gnomAD v4
Xg.108621797T>CCA2694440148COL4A5c.2678-6T>C (n.2678-6T>C)
n.2134-6T>C
c.2354-6T>C (n.2354-6T>C)
c.251-6T>C (n.251-6T>C)
c.2693-6T>C (n.2693-6T>C)
c.1013-6T>C (n.1013-6T>C)
 gnomAD v4
Xg.108621799A>GCA2694440149COL4A5c.2678-4A>G (n.2678-4A>G)
n.2134-4A>G
c.2354-4A>G (n.2354-4A>G)
c.251-4A>G (n.251-4A>G)
c.2693-4A>G (n.2693-4A>G)
c.1013-4A>G (n.1013-4A>G)
 gnomAD v4
Xg.108621799A>TCA2694440150COL4A5c.2678-4A>T (n.2678-4A>T)
n.2134-4A>T
c.2354-4A>T (n.2354-4A>T)
c.251-4A>T (n.251-4A>T)
c.2693-4A>T (n.2693-4A>T)
c.1013-4A>T (n.1013-4A>T)
 gnomAD v4
Xg.108621800A>GCA2739290538COL4A5c.2678-3A>G (n.2678-3A>G)
n.2134-3A>G
c.2354-3A>G (n.2354-3A>G)
c.251-3A>G (n.251-3A>G)
c.2693-3A>G (n.2693-3A>G)
c.1013-3A>G (n.1013-3A>G)
Xg.108621801A>CCA413851827COL4A5c.2678-2A>C (n.2678-2A>C)
n.2134-2A>C
c.2354-2A>C (n.2354-2A>C)
c.251-2A>C (n.251-2A>C)
c.2693-2A>C (n.2693-2A>C)
c.1013-2A>C (n.1013-2A>C)
 gnomAD v4
Xg.108621801A>GCA413851829COL4A5c.2678-2A>G (n.2678-2A>G)
n.2134-2A>G
c.2354-2A>G (n.2354-2A>G)
c.251-2A>G (n.251-2A>G)
c.2693-2A>G (n.2693-2A>G)
c.1013-2A>G (n.1013-2A>G)
Xg.108621801A>TCA413851831COL4A5c.2678-2A>T (n.2678-2A>T)
n.2134-2A>T
c.2354-2A>T (n.2354-2A>T)
c.251-2A>T (n.251-2A>T)
c.2693-2A>T (n.2693-2A>T)
c.1013-2A>T (n.1013-2A>T)
Xg.108621802G>ACA413851833COL4A5c.2678-1G>A (n.2678-1G>A)
n.2134-1G>A
c.2354-1G>A (n.2354-1G>A)
c.251-1G>A (n.251-1G>A)
c.2693-1G>A (n.2693-1G>A)
c.1013-1G>A (n.1013-1G>A)
 COSMIC COSMIC
Xg.108621802G>CCA413851837COL4A5c.2678-1G>C (n.2678-1G>C)
n.2134-1G>C
c.2354-1G>C (n.2354-1G>C)
c.251-1G>C (n.251-1G>C)
c.2693-1G>C (n.2693-1G>C)
c.1013-1G>C (n.1013-1G>C)
Xg.108621802G>TCA413851835COL4A5c.2678-1G>T (n.2678-1G>T)
n.2134-1G>T
c.2354-1G>T (n.2354-1G>T)
c.251-1G>T (n.251-1G>T)
c.2693-1G>T (n.2693-1G>T)
c.1013-1G>T (n.1013-1G>T)
Xg.108621803G>ACA413851839COL4A5c.2678G>A (p.Gly893Asp)
n.2134G>A
c.2354G>A (p.Gly785Asp)
c.251G>A (p.Gly84Asp)
c.2693G>A (p.Gly898Asp)
c.1013G>A (p.Gly338Asp)
 ClinVar gnomAD v4
Xg.108621803G>CCA413851841COL4A5c.2678G>C (p.Gly893Ala)
n.2134G>C
c.2354G>C (p.Gly785Ala)
c.251G>C (p.Gly84Ala)
c.2693G>C (p.Gly898Ala)
c.1013G>C (p.Gly338Ala)
 ClinVar dbSNP
Xg.108621803G=CA2450696558COL4A5c.2678G= (p.Gly893=)
n.2134G=
c.2354G= (p.Gly785=)
c.251G= (p.Gly84=)
c.2693G= (p.Gly898=)
c.1013G= (p.Gly338=)
Xg.108621803G>TCA261082COL4A5c.2678G>T (p.Gly893Val)
n.2134G>T
c.2354G>T (p.Gly785Val)
c.251G>T (p.Gly84Val)
c.2693G>T (p.Gly898Val)
c.1013G>T (p.Gly338Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.108621804T>ACA517924355COL4A5c.2679T>A (p.Gly893=)
n.2135T>A
c.2355T>A (p.Gly785=)
c.252T>A (p.Gly84=)
c.2694T>A (p.Gly898=)
c.1014T>A (p.Gly338=)
Xg.108621804T>CCA10488965COL4A5c.2679T>C (p.Gly893=)
n.2135T>C
c.2355T>C (p.Gly785=)
c.252T>C (p.Gly84=)
c.2694T>C (p.Gly898=)
c.1014T>C (p.Gly338=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108621804T>GCA517924358COL4A5c.2679T>G (p.Gly893=)
n.2135T>G
c.2355T>G (p.Gly785=)
c.252T>G (p.Gly84=)
c.2694T>G (p.Gly898=)
c.1014T>G (p.Gly338=)
Xg.108621804T=CA2450696559COL4A5c.2679T= (p.Gly893=)
n.2135T=
c.2355T= (p.Gly785=)
c.252T= (p.Gly84=)
c.2694T= (p.Gly898=)
c.1014T= (p.Gly338=)
Xg.108621805A=CA2450696560COL4A5c.2680A= (p.Thr894=)
n.2136A=
c.2356A= (p.Thr786=)
c.253A= (p.Thr85=)
c.2695A= (p.Thr899=)
c.1015A= (p.Thr339=)
Xg.108621805A>CCA413851845COL4A5c.2680A>C (p.Thr894Pro)
n.2136A>C
c.2356A>C (p.Thr786Pro)
c.253A>C (p.Thr85Pro)
c.2695A>C (p.Thr899Pro)
c.1015A>C (p.Thr339Pro)
Xg.108621805A>GCA413851847COL4A5c.2680A>G (p.Thr894Ala)
n.2136A>G
c.2356A>G (p.Thr786Ala)
c.253A>G (p.Thr85Ala)
c.2695A>G (p.Thr899Ala)
c.1015A>G (p.Thr339Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.108621805A>TCA413851849COL4A5c.2680A>T (p.Thr894Ser)
n.2136A>T
c.2356A>T (p.Thr786Ser)
c.253A>T (p.Thr85Ser)
c.2695A>T (p.Thr899Ser)
c.1015A>T (p.Thr339Ser)
Xg.108621806C>ACA413851851COL4A5c.2681C>A (p.Thr894Asn)
n.2137C>A
c.2357C>A (p.Thr786Asn)
c.254C>A (p.Thr85Asn)
c.2696C>A (p.Thr899Asn)
c.1016C>A (p.Thr339Asn)
 gnomAD v4
Xg.108621806C=CA2450696561COL4A5c.2681C= (p.Thr894=)
n.2137C=
c.2357C= (p.Thr786=)
c.254C= (p.Thr85=)
c.2696C= (p.Thr899=)
c.1016C= (p.Thr339=)
Xg.108621806C>GCA413851853COL4A5c.2681C>G (p.Thr894Ser)
n.2137C>G
c.2357C>G (p.Thr786Ser)
c.254C>G (p.Thr85Ser)
c.2696C>G (p.Thr899Ser)
c.1016C>G (p.Thr339Ser)
Xg.108621806C>TCA10488966COL4A5c.2681C>T (p.Thr894Ile)
n.2137C>T
c.2357C>T (p.Thr786Ile)
c.254C>T (p.Thr85Ile)
c.2696C>T (p.Thr899Ile)
c.1016C>T (p.Thr339Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108621807C>ACA517924360COL4A5c.2682C>A (p.Thr894=)
n.2138C>A
c.2358C>A (p.Thr786=)
c.255C>A (p.Thr85=)
c.2697C>A (p.Thr899=)
c.1017C>A (p.Thr339=)
 ClinVar dbSNP gnomAD v2
Xg.108621807C=CA2450696562COL4A5c.2682C= (p.Thr894=)
n.2138C=
c.2358C= (p.Thr786=)
c.255C= (p.Thr85=)
c.2697C= (p.Thr899=)
c.1017C= (p.Thr339=)
Xg.108621807C>GCA517924361COL4A5c.2682C>G (p.Thr894=)
n.2138C>G
c.2358C>G (p.Thr786=)
c.255C>G (p.Thr85=)
c.2697C>G (p.Thr899=)
c.1017C>G (p.Thr339=)
Xg.108621807C>TCA517924363COL4A5c.2682C>T (p.Thr894=)
n.2138C>T
c.2358C>T (p.Thr786=)
c.255C>T (p.Thr85=)
c.2697C>T (p.Thr899=)
c.1017C>T (p.Thr339=)
Xg.108621808A>CCA413851856COL4A5c.2683A>C (p.Lys895Gln)
n.2139A>C
c.2359A>C (p.Lys787Gln)
c.256A>C (p.Lys86Gln)
c.2698A>C (p.Lys900Gln)
c.1018A>C (p.Lys340Gln)
Xg.108621808A>GCA413851858COL4A5c.2683A>G (p.Lys895Glu)
n.2139A>G
c.2359A>G (p.Lys787Glu)
c.256A>G (p.Lys86Glu)
c.2698A>G (p.Lys900Glu)
c.1018A>G (p.Lys340Glu)
Xg.108621808A>TCA413851859COL4A5c.2683A>T (p.Lys895Ter)
n.2139A>T
c.2359A>T (p.Lys787Ter)
c.256A>T (p.Lys86Ter)
c.2698A>T (p.Lys900Ter)
c.1018A>T (p.Lys340Ter)
 ClinVar
Xg.108621810delCA2579676556COL4A5c.2685del (p.Gly896ValfsTer5)
n.2141del
c.2361del (p.Gly788ValfsTer5)
c.258del (p.Gly87ValfsTer5)
c.2700del (p.Gly901ValfsTer5)
c.1020del (p.Gly341ValfsTer5)
Xg.108621809A>CCA413851865COL4A5c.2684A>C (p.Lys895Thr)
n.2140A>C
c.2360A>C (p.Lys787Thr)
c.257A>C (p.Lys86Thr)
c.2699A>C (p.Lys900Thr)
c.1019A>C (p.Lys340Thr)
Xg.108621809A>GCA413851862COL4A5c.2684A>G (p.Lys895Arg)
n.2140A>G
c.2360A>G (p.Lys787Arg)
c.257A>G (p.Lys86Arg)
c.2699A>G (p.Lys900Arg)
c.1019A>G (p.Lys340Arg)
Xg.108621809A>TCA413851863COL4A5c.2684A>T (p.Lys895Ile)
n.2140A>T
c.2360A>T (p.Lys787Ile)
c.257A>T (p.Lys86Ile)
c.2699A>T (p.Lys900Ile)
c.1019A>T (p.Lys340Ile)
Xg.108621810A>CCA413851868COL4A5c.2685A>C (p.Lys895Asn)
n.2141A>C
c.2361A>C (p.Lys787Asn)
c.258A>C (p.Lys86Asn)
c.2700A>C (p.Lys900Asn)
c.1020A>C (p.Lys340Asn)
Xg.108621810A>GCA517924366COL4A5c.2685A>G (p.Lys895=)
n.2141A>G
c.2361A>G (p.Lys787=)
c.258A>G (p.Lys86=)
c.2700A>G (p.Lys900=)
c.1020A>G (p.Lys340=)
Xg.108621810A>TCA413851869COL4A5c.2685A>T (p.Lys895Asn)
n.2141A>T
c.2361A>T (p.Lys787Asn)
c.258A>T (p.Lys86Asn)
c.2700A>T (p.Lys900Asn)
c.1020A>T (p.Lys340Asn)
Xg.108621810_108621811delinsAGCA2450696563COL4A5c.2685_2686delinsAG (p.Lys895=)
n.2141_2142delinsAG
c.2361_2362delinsAG (p.Lys787=)
c.258_259delinsAG (p.Lys86=)
c.2700_2701delinsAG (p.Lys900=)
c.1020_1021delinsAG (p.Lys340=)
Xg.108621811G>ACA413851871COL4A5c.2686G>A (p.Gly896Ser)
n.2142G>A
c.2362G>A (p.Gly788Ser)
c.259G>A (p.Gly87Ser)
c.2701G>A (p.Gly901Ser)
c.1021G>A (p.Gly341Ser)
 ClinVar dbSNP
Xg.108621811G>CCA413851873COL4A5c.2686G>C (p.Gly896Arg)
n.2142G>C
c.2362G>C (p.Gly788Arg)
c.259G>C (p.Gly87Arg)
c.2701G>C (p.Gly901Arg)
c.1021G>C (p.Gly341Arg)
 dbSNP
Xg.108621811G=CA2450696564COL4A5c.2686G= (p.Gly896=)
n.2142G=
c.2362G= (p.Gly788=)
c.259G= (p.Gly87=)
c.2701G= (p.Gly901=)
c.1021G= (p.Gly341=)
Xg.108621811G>TCA413851875COL4A5c.2686G>T (p.Gly896Cys)
n.2142G>T
c.2362G>T (p.Gly788Cys)
c.259G>T (p.Gly87Cys)
c.2701G>T (p.Gly901Cys)
c.1021G>T (p.Gly341Cys)
Xg.108621812delCA258738COL4A5c.2687del (p.Gly896ValfsTer5)
n.2143del
c.2363del (p.Gly788ValfsTer5)
c.260del (p.Gly87ValfsTer5)
c.2702del (p.Gly901ValfsTer5)
c.1022del (p.Gly341ValfsTer5)
 dbSNP
Xg.108621812G>ACA413851879COL4A5c.2687G>A (p.Gly896Asp)
n.2143G>A
c.2363G>A (p.Gly788Asp)
c.260G>A (p.Gly87Asp)
c.2702G>A (p.Gly901Asp)
c.1022G>A (p.Gly341Asp)
Xg.108621812G>CCA413851880COL4A5c.2687G>C (p.Gly896Ala)
n.2143G>C
c.2363G>C (p.Gly788Ala)
c.260G>C (p.Gly87Ala)
c.2702G>C (p.Gly901Ala)
c.1022G>C (p.Gly341Ala)
Xg.108621812G>TCA413851882COL4A5c.2687G>T (p.Gly896Val)
n.2143G>T
c.2363G>T (p.Gly788Val)
c.260G>T (p.Gly87Val)
c.2702G>T (p.Gly901Val)
c.1022G>T (p.Gly341Val)
 ClinVar
Xg.108621813T>ACA517924367COL4A5c.2688T>A (p.Gly896=)
n.2144T>A
c.2364T>A (p.Gly788=)
c.261T>A (p.Gly87=)
c.2703T>A (p.Gly901=)
c.1023T>A (p.Gly341=)
Xg.108621813T>CCA517924368COL4A5c.2688T>C (p.Gly896=)
n.2144T>C
c.2364T>C (p.Gly788=)
c.261T>C (p.Gly87=)
c.2703T>C (p.Gly901=)
c.1023T>C (p.Gly341=)
Xg.108621813T>GCA517924369COL4A5c.2688T>G (p.Gly896=)
n.2144T>G
c.2364T>G (p.Gly788=)
c.261T>G (p.Gly87=)
c.2703T>G (p.Gly901=)
c.1023T>G (p.Gly341=)
Xg.108621815_108621819delCA2695235220COL4A5c.2690_2694del (p.Glu897GlyfsTer24)
n.2146_2150del
c.2366_2370del (p.Glu789GlyfsTer24)
c.263_267del (p.Glu88GlyfsTer24)
c.2705_2709del (p.Glu902GlyfsTer24)
c.1025_1029del (p.Glu342GlyfsTer24)
Xg.108621814G>ACA413851883COL4A5c.2689G>A (p.Glu897Lys)
n.2145G>A
c.2365G>A (p.Glu789Lys)
c.262G>A (p.Glu88Lys)
c.2704G>A (p.Glu902Lys)
c.1024G>A (p.Glu342Lys)
Xg.108621814G>CCA413851884COL4A5c.2689G>C (p.Glu897Gln)
n.2145G>C
c.2365G>C (p.Glu789Gln)
c.262G>C (p.Glu88Gln)
c.2704G>C (p.Glu902Gln)
c.1024G>C (p.Glu342Gln)
Xg.108621814G>TCA413851885COL4A5c.2689G>T (p.Glu897Ter)
n.2145G>T
c.2365G>T (p.Glu789Ter)
c.262G>T (p.Glu88Ter)
c.2704G>T (p.Glu902Ter)
c.1024G>T (p.Glu342Ter)
Xg.108621815A=CA2450696565COL4A5c.2690A= (p.Glu897=)
n.2146A=
c.2366A= (p.Glu789=)
c.263A= (p.Glu88=)
c.2705A= (p.Glu902=)
c.1025A= (p.Glu342=)
Xg.108621815A>CCA413851890COL4A5c.2690A>C (p.Glu897Ala)
n.2146A>C
c.2366A>C (p.Glu789Ala)
c.263A>C (p.Glu88Ala)
c.2705A>C (p.Glu902Ala)
c.1025A>C (p.Glu342Ala)
 dbSNP
Xg.108621815A>GCA413851888COL4A5c.2690A>G (p.Glu897Gly)
n.2146A>G
c.2366A>G (p.Glu789Gly)
c.263A>G (p.Glu88Gly)
c.2705A>G (p.Glu902Gly)
c.1025A>G (p.Glu342Gly)
Xg.108621815A>TCA413851886COL4A5c.2690A>T (p.Glu897Val)
n.2146A>T
c.2366A>T (p.Glu789Val)
c.263A>T (p.Glu88Val)
c.2705A>T (p.Glu902Val)
c.1025A>T (p.Glu342Val)
Xg.108621817delCA645606858COL4A5c.2692del (p.Met898TrpfsTer3)
n.2148del
c.2368del (p.Met790TrpfsTer3)
c.265del (p.Met89TrpfsTer3)
c.2707del (p.Met903TrpfsTer3)
c.1027del (p.Met343TrpfsTer3)
 COSMIC COSMIC
Xg.108621815_108621816insTCCA2695235221COL4A5c.2690_2691insTC (p.Glu897AspfsTer5)
n.2146_2147insTC
c.2366_2367insTC (p.Glu789AspfsTer5)
c.263_264insTC (p.Glu88AspfsTer5)
c.2705_2706insTC (p.Glu902AspfsTer5)
c.1025_1026insTC (p.Glu342AspfsTer5)
Xg.108621816A>CCA413851894COL4A5c.2691A>C (p.Glu897Asp)
n.2147A>C
c.2367A>C (p.Glu789Asp)
c.264A>C (p.Glu88Asp)
c.2706A>C (p.Glu902Asp)
c.1026A>C (p.Glu342Asp)
Xg.108621816A>GCA517924371COL4A5c.2691A>G (p.Glu897=)
n.2147A>G
c.2367A>G (p.Glu789=)
c.264A>G (p.Glu88=)
c.2706A>G (p.Glu902=)
c.1026A>G (p.Glu342=)
Xg.108621816A>TCA413851892COL4A5c.2691A>T (p.Glu897Asp)
n.2147A>T
c.2367A>T (p.Glu789Asp)
c.264A>T (p.Glu88Asp)
c.2706A>T (p.Glu902Asp)
c.1026A>T (p.Glu342Asp)
Xg.108621817A=CA2450696566COL4A5c.2692A= (p.Met898=)
n.2148A=
c.2368A= (p.Met790=)
c.265A= (p.Met89=)
c.2707A= (p.Met903=)
c.1027A= (p.Met343=)
Xg.108621817A>CCA413851897COL4A5c.2692A>C (p.Met898Leu)
n.2148A>C
c.2368A>C (p.Met790Leu)
c.265A>C (p.Met89Leu)
c.2707A>C (p.Met903Leu)
c.1027A>C (p.Met343Leu)
Xg.108621817A>GCA258739COL4A5c.2692A>G (p.Met898Val)
n.2148A>G
c.2368A>G (p.Met790Val)
c.265A>G (p.Met89Val)
c.2707A>G (p.Met903Val)
c.1027A>G (p.Met343Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108621817A>TCA413851899COL4A5c.2692A>T (p.Met898Leu)
n.2148A>T
c.2368A>T (p.Met790Leu)
c.265A>T (p.Met89Leu)
c.2707A>T (p.Met903Leu)
c.1027A>T (p.Met343Leu)
Xg.108621818T>ACA413851901COL4A5c.2693T>A (p.Met898Lys)
n.2149T>A
c.2369T>A (p.Met790Lys)
c.266T>A (p.Met89Lys)
c.2708T>A (p.Met903Lys)
c.1028T>A (p.Met343Lys)
Xg.108621818T>CCA413851905COL4A5c.2693T>C (p.Met898Thr)
n.2149T>C
c.2369T>C (p.Met790Thr)
c.266T>C (p.Met89Thr)
c.2708T>C (p.Met903Thr)
c.1028T>C (p.Met343Thr)
 gnomAD v4
Xg.108621818T>GCA413851903COL4A5c.2693T>G (p.Met898Arg)
n.2149T>G
c.2369T>G (p.Met790Arg)
c.266T>G (p.Met89Arg)
c.2708T>G (p.Met903Arg)
c.1028T>G (p.Met343Arg)
Xg.108621818_108621822delCA2580100195COL4A5c.2693_2697del (p.Met898AsnfsTer23)
n.2149_2153del
c.2369_2373del (p.Met790AsnfsTer23)
c.266_270del (p.Met89AsnfsTer23)
c.2708_2712del (p.Met903AsnfsTer23)
c.1028_1032del (p.Met343AsnfsTer23)
 ClinVar
Xg.108621818_108621828delinsTGGGTATGATGCA2450696567COL4A5c.2693_2703delinsTGGGTATGATG (p.Met898=)
n.2149_2159delinsTGGGTATGATG
c.2369_2379delinsTGGGTATGATG (p.Met790=)
c.266_276delinsTGGGTATGATG (p.Met89=)
c.2708_2718delinsTGGGTATGATG (p.Met903=)
c.1028_1038delinsTGGGTATGATG (p.Met343=)
Xg.108621819G>ACA413851907COL4A5c.2694G>A (p.Met898Ile)
n.2150G>A
c.2370G>A (p.Met790Ile)
c.267G>A (p.Met89Ile)
c.2709G>A (p.Met903Ile)
c.1029G>A (p.Met343Ile)
Xg.108621819G>CCA413851910COL4A5c.2694G>C (p.Met898Ile)
n.2150G>C
c.2370G>C (p.Met790Ile)
c.267G>C (p.Met89Ile)
c.2709G>C (p.Met903Ile)
c.1029G>C (p.Met343Ile)
Xg.108621819G>TCA413851911COL4A5c.2694G>T (p.Met898Ile)
n.2150G>T
c.2370G>T (p.Met790Ile)
c.267G>T (p.Met89Ile)
c.2709G>T (p.Met903Ile)
c.1029G>T (p.Met343Ile)
Xg.108621821delCA2579676557COL4A5c.2696del (p.Gly899ValfsTer2)
n.2152del
c.2372del (p.Gly791ValfsTer2)
c.269del (p.Gly90ValfsTer2)
c.2711del (p.Gly904ValfsTer2)
c.1031del (p.Gly344ValfsTer2)
Xg.108621821_108621830delCA261085COL4A5c.2696_2705del (p.Gly899AspfsTer?)
n.2152_2161del
c.2372_2381del (p.Gly791AspfsTer?)
c.269_278del (p.Gly90AspfsTer?)
c.2711_2720del (p.Gly904AspfsTer?)
c.1031_1040del (p.Gly344AspfsTer?)
 dbSNP
Xg.108621820G>ACA413851913COL4A5c.2695G>A (p.Gly899Ser)
n.2151G>A
c.2371G>A (p.Gly791Ser)
c.268G>A (p.Gly90Ser)
c.2710G>A (p.Gly904Ser)
c.1030G>A (p.Gly344Ser)
 ClinVar dbSNP
Xg.108621820G>CCA413851915COL4A5c.2695G>C (p.Gly899Arg)
n.2151G>C
c.2371G>C (p.Gly791Arg)
c.268G>C (p.Gly90Arg)
c.2710G>C (p.Gly904Arg)
c.1030G>C (p.Gly344Arg)
Xg.108621820G=CA2450696568COL4A5c.2695G= (p.Gly899=)
n.2151G=
c.2371G= (p.Gly791=)
c.268G= (p.Gly90=)
c.2710G= (p.Gly904=)
c.1030G= (p.Gly344=)
Xg.108621820G>TCA413851916COL4A5c.2695G>T (p.Gly899Cys)
n.2151G>T
c.2371G>T (p.Gly791Cys)
c.268G>T (p.Gly90Cys)
c.2710G>T (p.Gly904Cys)
c.1030G>T (p.Gly344Cys)
 gnomAD v4
Xg.108621821G>ACA413851918COL4A5c.2696G>A (p.Gly899Asp)
n.2152G>A
c.2372G>A (p.Gly791Asp)
c.269G>A (p.Gly90Asp)
c.2711G>A (p.Gly904Asp)
c.1031G>A (p.Gly344Asp)
 ClinVar dbSNP
Xg.108621821G>CCA413851920COL4A5c.2696G>C (p.Gly899Ala)
n.2152G>C
c.2372G>C (p.Gly791Ala)
c.269G>C (p.Gly90Ala)
c.2711G>C (p.Gly904Ala)
c.1031G>C (p.Gly344Ala)
Xg.108621821G=CA2450696569COL4A5c.2696G= (p.Gly899=)
n.2152G=
c.2372G= (p.Gly791=)
c.269G= (p.Gly90=)
c.2711G= (p.Gly904=)
c.1031G= (p.Gly344=)
Xg.108621821G>TCA261086COL4A5c.2696G>T (p.Gly899Val)
n.2152G>T
c.2372G>T (p.Gly791Val)
c.269G>T (p.Gly90Val)
c.2711G>T (p.Gly904Val)
c.1031G>T (p.Gly344Val)
 dbSNP
Xg.108621822T>ACA517924381COL4A5c.2697T>A (p.Gly899=)
n.2153T>A
c.2373T>A (p.Gly791=)
c.270T>A (p.Gly90=)
c.2712T>A (p.Gly904=)
c.1032T>A (p.Gly344=)
Xg.108621822T>CCA517924380COL4A5c.2697T>C (p.Gly899=)
n.2153T>C
c.2373T>C (p.Gly791=)
c.270T>C (p.Gly90=)
c.2712T>C (p.Gly904=)
c.1032T>C (p.Gly344=)
Xg.108621822T>GCA517924382COL4A5c.2697T>G (p.Gly899=)
n.2153T>G
c.2373T>G (p.Gly791=)
c.270T>G (p.Gly90=)
c.2712T>G (p.Gly904=)
c.1032T>G (p.Gly344=)
Xg.108621823A=CA2450696570COL4A5c.2698A= (p.Met900=)
n.2154A=
c.2374A= (p.Met792=)
c.271A= (p.Met91=)
c.2713A= (p.Met905=)
c.1033A= (p.Met345=)
Xg.108621823A>CCA413851926COL4A5c.2698A>C (p.Met900Leu)
n.2154A>C
c.2374A>C (p.Met792Leu)
c.271A>C (p.Met91Leu)
c.2713A>C (p.Met905Leu)
c.1033A>C (p.Met345Leu)
Xg.108621823A>GCA413851928COL4A5c.2698A>G (p.Met900Val)
n.2154A>G
c.2374A>G (p.Met792Val)
c.271A>G (p.Met91Val)
c.2713A>G (p.Met905Val)
c.1033A>G (p.Met345Val)
Xg.108621823A>TCA413851930COL4A5c.2698A>T (p.Met900Leu)
n.2154A>T
c.2374A>T (p.Met792Leu)
c.271A>T (p.Met91Leu)
c.2713A>T (p.Met905Leu)
c.1033A>T (p.Met345Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108621824T>ACA413851931COL4A5c.2699T>A (p.Met900Lys)
n.2155T>A
c.2375T>A (p.Met792Lys)
c.272T>A (p.Met91Lys)
c.2714T>A (p.Met905Lys)
c.1034T>A (p.Met345Lys)
Xg.108621824T>CCA413851935COL4A5c.2699T>C (p.Met900Thr)
n.2155T>C
c.2375T>C (p.Met792Thr)
c.272T>C (p.Met91Thr)
c.2714T>C (p.Met905Thr)
c.1034T>C (p.Met345Thr)
Xg.108621824T>GCA413851936COL4A5c.2699T>G (p.Met900Arg)
n.2155T>G
c.2375T>G (p.Met792Arg)
c.272T>G (p.Met91Arg)
c.2714T>G (p.Met905Arg)
c.1034T>G (p.Met345Arg)
Xg.108621825G>ACA413851943COL4A5c.2700G>A (p.Met900Ile)
n.2156G>A
c.2376G>A (p.Met792Ile)
c.273G>A (p.Met91Ile)
c.2715G>A (p.Met905Ile)
c.1035G>A (p.Met345Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.108621825G>CCA413851940COL4A5c.2700G>C (p.Met900Ile)
n.2156G>C
c.2376G>C (p.Met792Ile)
c.273G>C (p.Met91Ile)
c.2715G>C (p.Met905Ile)
c.1035G>C (p.Met345Ile)
Xg.108621825G=CA2450696571COL4A5c.2700G= (p.Met900=)
n.2156G=
c.2376G= (p.Met792=)
c.273G= (p.Met91=)
c.2715G= (p.Met905=)
c.1035G= (p.Met345=)
Xg.108621825G>TCA413851942COL4A5c.2700G>T (p.Met900Ile)
n.2156G>T
c.2376G>T (p.Met792Ile)
c.273G>T (p.Met91Ile)
c.2715G>T (p.Met905Ile)
c.1035G>T (p.Met345Ile)
Xg.108621826A>CCA413851945COL4A5c.2701A>C (p.Met901Leu)
n.2157A>C
c.2377A>C (p.Met793Leu)
c.274A>C (p.Met92Leu)
c.2716A>C (p.Met906Leu)
c.1036A>C (p.Met346Leu)
Xg.108621826A>GCA413851946COL4A5c.2701A>G (p.Met901Val)
n.2157A>G
c.2377A>G (p.Met793Val)
c.274A>G (p.Met92Val)
c.2716A>G (p.Met906Val)
c.1036A>G (p.Met346Val)
Xg.108621826A>TCA413851947COL4A5c.2701A>T (p.Met901Leu)
n.2157A>T
c.2377A>T (p.Met793Leu)
c.274A>T (p.Met92Leu)
c.2716A>T (p.Met906Leu)
c.1036A>T (p.Met346Leu)
Xg.108621827T>ACA413851948COL4A5c.2702T>A (p.Met901Lys)
n.2158T>A
c.2378T>A (p.Met793Lys)
c.275T>A (p.Met92Lys)
c.2717T>A (p.Met906Lys)
c.1037T>A (p.Met346Lys)
Xg.108621827T>CCA413851949COL4A5c.2702T>C (p.Met901Thr)
n.2158T>C
c.2378T>C (p.Met793Thr)
c.275T>C (p.Met92Thr)
c.2717T>C (p.Met906Thr)
c.1037T>C (p.Met346Thr)
Xg.108621827T>GCA413851950COL4A5c.2702T>G (p.Met901Arg)
n.2158T>G
c.2378T>G (p.Met793Arg)
c.275T>G (p.Met92Arg)
c.2717T>G (p.Met906Arg)
c.1037T>G (p.Met346Arg)
Xg.108621828G>ACA413851952COL4A5c.2703G>A (p.Met901Ile)
n.2159G>A
c.2379G>A (p.Met793Ile)
c.276G>A (p.Met92Ile)
c.2718G>A (p.Met906Ile)
c.1038G>A (p.Met346Ile)
Xg.108621828G>CCA413851953COL4A5c.2703G>C (p.Met901Ile)
n.2159G>C
c.2379G>C (p.Met793Ile)
c.276G>C (p.Met92Ile)
c.2718G>C (p.Met906Ile)
c.1038G>C (p.Met346Ile)
Xg.108621828G>TCA413851957COL4A5c.2703G>T (p.Met901Ile)
n.2159G>T
c.2379G>T (p.Met793Ile)
c.276G>T (p.Met92Ile)
c.2718G>T (p.Met906Ile)
c.1038G>T (p.Met346Ile)
Xg.108621829G>ACA413851960COL4A5c.2704G>A (p.Gly902Arg)
n.2160G>A
c.2380G>A (p.Gly794Arg)
c.277G>A (p.Gly93Arg)
c.2719G>A (p.Gly907Arg)
c.1039G>A (p.Gly347Arg)
Xg.108621829G>CCA413851961COL4A5c.2704G>C (p.Gly902Arg)
n.2160G>C
c.2380G>C (p.Gly794Arg)
c.277G>C (p.Gly93Arg)
c.2719G>C (p.Gly907Arg)
c.1039G>C (p.Gly347Arg)
Xg.108621829G>TCA413851963COL4A5c.2704G>T (p.Gly902Ter)
n.2160G>T
c.2380G>T (p.Gly794Ter)
c.277G>T (p.Gly93Ter)
c.2719G>T (p.Gly907Ter)
c.1039G>T (p.Gly347Ter)
Xg.108621830G>ACA258741COL4A5c.2705G>A (p.Gly902Glu)
n.2161G>A
c.2381G>A (p.Gly794Glu)
c.278G>A (p.Gly93Glu)
c.2720G>A (p.Gly907Glu)
c.1040G>A (p.Gly347Glu)
 dbSNP
Xg.108621830G>CCA413851966COL4A5c.2705G>C (p.Gly902Ala)
n.2161G>C
c.2381G>C (p.Gly794Ala)
c.278G>C (p.Gly93Ala)
c.2720G>C (p.Gly907Ala)
c.1040G>C (p.Gly347Ala)
Xg.108621830G=CA2450696572COL4A5c.2705G= (p.Gly902=)
n.2161G=
c.2381G= (p.Gly794=)
c.278G= (p.Gly93=)
c.2720G= (p.Gly907=)
c.1040G= (p.Gly347=)
Xg.108621830G>TCA413851964COL4A5c.2705G>T (p.Gly902Val)
n.2161G>T
c.2381G>T (p.Gly794Val)
c.278G>T (p.Gly93Val)
c.2720G>T (p.Gly907Val)
c.1040G>T (p.Gly347Val)
Xg.108621831A=CA2450696573COL4A5c.2706A= (p.Gly902=)
n.2162A=
c.2382A= (p.Gly794=)
c.279A= (p.Gly93=)
c.2721A= (p.Gly907=)
c.1041A= (p.Gly347=)
Xg.108621831A>CCA517924395COL4A5c.2706A>C (p.Gly902=)
n.2162A>C
c.2382A>C (p.Gly794=)
c.279A>C (p.Gly93=)
c.2721A>C (p.Gly907=)
c.1041A>C (p.Gly347=)
Xg.108621831A>GCA517924396COL4A5c.2706A>G (p.Gly902=)
n.2162A>G
c.2382A>G (p.Gly794=)
c.279A>G (p.Gly93=)
c.2721A>G (p.Gly907=)
c.1041A>G (p.Gly347=)
Xg.108621831A>TCA517924394COL4A5c.2706A>T (p.Gly902=)
n.2162A>T
c.2382A>T (p.Gly794=)
c.279A>T (p.Gly93=)
c.2721A>T (p.Gly907=)
c.1041A>T (p.Gly347=)
Xg.108621832C>ACA413851968COL4A5c.2707C>A (p.Pro903Thr)
n.2163C>A
c.2383C>A (p.Pro795Thr)
c.280C>A (p.Pro94Thr)
c.2722C>A (p.Pro908Thr)
c.1042C>A (p.Pro348Thr)
 gnomAD v4
Xg.108621832C>GCA413851970COL4A5c.2707C>G (p.Pro903Ala)
n.2163C>G
c.2383C>G (p.Pro795Ala)
c.280C>G (p.Pro94Ala)
c.2722C>G (p.Pro908Ala)
c.1042C>G (p.Pro348Ala)
Xg.108621832C>TCA413851972COL4A5c.2707C>T (p.Pro903Ser)
n.2163C>T
c.2383C>T (p.Pro795Ser)
c.280C>T (p.Pro94Ser)
c.2722C>T (p.Pro908Ser)
c.1042C>T (p.Pro348Ser)
Xg.108621833dupCA258744COL4A5c.2708dup (p.Pro904SerfsTer19)
n.2164dup
c.2384dup (p.Pro796SerfsTer19)
c.281dup (p.Pro95SerfsTer19)
c.2723dup (p.Pro909SerfsTer19)
c.1043dup (p.Pro349SerfsTer19)
 dbSNP
Xg.108621833C>ACA413851974COL4A5c.2708C>A (p.Pro903His)
n.2164C>A
c.2384C>A (p.Pro795His)
c.281C>A (p.Pro94His)
c.2723C>A (p.Pro908His)
c.1043C>A (p.Pro348His)
Xg.108621833C>GCA413851975COL4A5c.2708C>G (p.Pro903Arg)
n.2164C>G
c.2384C>G (p.Pro795Arg)
c.281C>G (p.Pro94Arg)
c.2723C>G (p.Pro908Arg)
c.1043C>G (p.Pro348Arg)
Xg.108621833C>TCA413851976COL4A5c.2708C>T (p.Pro903Leu)
n.2164C>T
c.2384C>T (p.Pro795Leu)
c.281C>T (p.Pro94Leu)
c.2723C>T (p.Pro908Leu)
c.1043C>T (p.Pro348Leu)
Xg.108621834T>ACA517924402COL4A5c.2709T>A (p.Pro903=)
n.2165T>A
c.2385T>A (p.Pro795=)
c.282T>A (p.Pro94=)
c.2724T>A (p.Pro908=)
c.1044T>A (p.Pro348=)
Xg.108621834T>CCA517924403COL4A5c.2709T>C (p.Pro903=)
n.2165T>C
c.2385T>C (p.Pro795=)
c.282T>C (p.Pro94=)
c.2724T>C (p.Pro908=)
c.1044T>C (p.Pro348=)
 ClinVar
Xg.108621834T>GCA517924405COL4A5c.2709T>G (p.Pro903=)
n.2165T>G
c.2385T>G (p.Pro795=)
c.282T>G (p.Pro94=)
c.2724T>G (p.Pro908=)
c.1044T>G (p.Pro348=)
Xg.108621835C>ACA413851979COL4A5c.2710C>A (p.Pro904Thr)
n.2166C>A
c.2386C>A (p.Pro796Thr)
c.283C>A (p.Pro95Thr)
c.2725C>A (p.Pro909Thr)
c.1045C>A (p.Pro349Thr)
Xg.108621835C=CA2450696574COL4A5c.2710C= (p.Pro904=)
n.2166C=
c.2386C= (p.Pro796=)
c.283C= (p.Pro95=)
c.2725C= (p.Pro909=)
c.1045C= (p.Pro349=)
Xg.108621835C>GCA413851981COL4A5c.2710C>G (p.Pro904Ala)
n.2166C>G
c.2386C>G (p.Pro796Ala)
c.283C>G (p.Pro95Ala)
c.2725C>G (p.Pro909Ala)
c.1045C>G (p.Pro349Ala)
Xg.108621835C>TCA413851984COL4A5c.2710C>T (p.Pro904Ser)
n.2166C>T
c.2386C>T (p.Pro796Ser)
c.283C>T (p.Pro95Ser)
c.2725C>T (p.Pro909Ser)
c.1045C>T (p.Pro349Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108621836C>ACA413851987COL4A5c.2711C>A (p.Pro904Gln)
n.2167C>A
c.2387C>A (p.Pro796Gln)
c.284C>A (p.Pro95Gln)
c.2726C>A (p.Pro909Gln)
c.1046C>A (p.Pro349Gln)
Xg.108621836C>GCA413851992COL4A5c.2711C>G (p.Pro904Arg)
n.2167C>G
c.2387C>G (p.Pro796Arg)
c.284C>G (p.Pro95Arg)
c.2726C>G (p.Pro909Arg)
c.1046C>G (p.Pro349Arg)
Xg.108621836C>TCA413852003COL4A5c.2711C>T (p.Pro904Leu)
n.2167C>T
c.2387C>T (p.Pro796Leu)
c.284C>T (p.Pro95Leu)
c.2726C>T (p.Pro909Leu)
c.1046C>T (p.Pro349Leu)
 COSMIC COSMIC
Xg.108621837A>CCA517924408COL4A5c.2712A>C (p.Pro904=)
n.2168A>C
c.2388A>C (p.Pro796=)
c.285A>C (p.Pro95=)
c.2727A>C (p.Pro909=)
c.1047A>C (p.Pro349=)
Xg.108621837A>GCA517924409COL4A5c.2712A>G (p.Pro904=)
n.2168A>G
c.2388A>G (p.Pro796=)
c.285A>G (p.Pro95=)
c.2727A>G (p.Pro909=)
c.1047A>G (p.Pro349=)
Xg.108621837A>TCA517924411COL4A5c.2712A>T (p.Pro904=)
n.2168A>T
c.2388A>T (p.Pro796=)
c.285A>T (p.Pro95=)
c.2727A>T (p.Pro909=)
c.1047A>T (p.Pro349=)
Xg.108621838G>ACA334050070COL4A5c.2713G>A (p.Gly905Ser)
n.2169G>A
c.2389G>A (p.Gly797Ser)
c.286G>A (p.Gly96Ser)
c.2728G>A (p.Gly910Ser)
c.1048G>A (p.Gly350Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108621838G>CCA413852009COL4A5c.2713G>C (p.Gly905Arg)
n.2169G>C
c.2389G>C (p.Gly797Arg)
c.286G>C (p.Gly96Arg)
c.2728G>C (p.Gly910Arg)
c.1048G>C (p.Gly350Arg)
 ClinVar dbSNP
Xg.108621838G=CA2450696575COL4A5c.2713G= (p.Gly905=)
n.2169G=
c.2389G= (p.Gly797=)
c.286G= (p.Gly96=)
c.2728G= (p.Gly910=)
c.1048G= (p.Gly350=)
Xg.108621838G>TCA413852007COL4A5c.2713G>T (p.Gly905Cys)
n.2169G>T
c.2389G>T (p.Gly797Cys)
c.286G>T (p.Gly96Cys)
c.2728G>T (p.Gly910Cys)
c.1048G>T (p.Gly350Cys)
 COSMIC COSMIC
Xg.108621839G>ACA413852012COL4A5c.2714G>A (p.Gly905Asp)
n.2170G>A
c.2390G>A (p.Gly797Asp)
c.287G>A (p.Gly96Asp)
c.2729G>A (p.Gly910Asp)
c.1049G>A (p.Gly350Asp)
Xg.108621839G>CCA413852014COL4A5c.2714G>C (p.Gly905Ala)
n.2170G>C
c.2390G>C (p.Gly797Ala)
c.287G>C (p.Gly96Ala)
c.2729G>C (p.Gly910Ala)
c.1049G>C (p.Gly350Ala)
Xg.108621839G=CA2450696576COL4A5c.2714G= (p.Gly905=)
n.2170G=
c.2390G= (p.Gly797=)
c.287G= (p.Gly96=)
c.2729G= (p.Gly910=)
c.1049G= (p.Gly350=)
Xg.108621839G>TCA413852016COL4A5c.2714G>T (p.Gly905Val)
n.2170G>T
c.2390G>T (p.Gly797Val)
c.287G>T (p.Gly96Val)
c.2729G>T (p.Gly910Val)
c.1049G>T (p.Gly350Val)
Xg.108621840C>ACA517924412COL4A5c.2715C>A (p.Gly905=)
n.2171C>A
c.2391C>A (p.Gly797=)
c.288C>A (p.Gly96=)
c.2730C>A (p.Gly910=)
c.1050C>A (p.Gly350=)
Xg.108621840C=CA2450696577COL4A5c.2715C= (p.Gly905=)
n.2171C=
c.2391C= (p.Gly797=)
c.288C= (p.Gly96=)
c.2730C= (p.Gly910=)
c.1050C= (p.Gly350=)
Xg.108621840C>GCA517924413COL4A5c.2715C>G (p.Gly905=)
n.2171C>G
c.2391C>G (p.Gly797=)
c.288C>G (p.Gly96=)
c.2730C>G (p.Gly910=)
c.1050C>G (p.Gly350=)
Xg.108621840C>TCA517924414COL4A5c.2715C>T (p.Gly905=)
n.2171C>T
c.2391C>T (p.Gly797=)
c.288C>T (p.Gly96=)
c.2730C>T (p.Gly910=)
c.1050C>T (p.Gly350=)
 ClinVar dbSNP gnomAD v4
Xg.108621841C>ACA10488967COL4A5c.2716C>A (p.Pro906Thr)
n.2172C>A
c.2392C>A (p.Pro798Thr)
c.289C>A (p.Pro97Thr)
c.2731C>A (p.Pro911Thr)
c.1051C>A (p.Pro351Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108621841C=CA2450696578COL4A5c.2716C= (p.Pro906=)
n.2172C=
c.2392C= (p.Pro798=)
c.289C= (p.Pro97=)
c.2731C= (p.Pro911=)
c.1051C= (p.Pro351=)
Xg.108621841C>GCA413852025COL4A5c.2716C>G (p.Pro906Ala)
n.2172C>G
c.2392C>G (p.Pro798Ala)
c.289C>G (p.Pro97Ala)
c.2731C>G (p.Pro911Ala)
c.1051C>G (p.Pro351Ala)
Xg.108621841C>TCA413852027COL4A5c.2716C>T (p.Pro906Ser)
n.2172C>T
c.2392C>T (p.Pro798Ser)
c.289C>T (p.Pro97Ser)
c.2731C>T (p.Pro911Ser)
c.1051C>T (p.Pro351Ser)
Xg.108621842C>ACA413852033COL4A5c.2717C>A (p.Pro906Gln)
n.2173C>A
c.2393C>A (p.Pro798Gln)
c.290C>A (p.Pro97Gln)
c.2732C>A (p.Pro911Gln)
c.1052C>A (p.Pro351Gln)
 gnomAD v4
Xg.108621842C=CA2450696579COL4A5c.2717C= (p.Pro906=)
n.2173C=
c.2393C= (p.Pro798=)
c.290C= (p.Pro97=)
c.2732C= (p.Pro911=)
c.1052C= (p.Pro351=)
Xg.108621842C>GCA10488968COL4A5c.2717C>G (p.Pro906Arg)
n.2173C>G
c.2393C>G (p.Pro798Arg)
c.290C>G (p.Pro97Arg)
c.2732C>G (p.Pro911Arg)
c.1052C>G (p.Pro351Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108621842C>TCA413852044COL4A5c.2717C>T (p.Pro906Leu)
n.2173C>T
c.2393C>T (p.Pro798Leu)
c.290C>T (p.Pro97Leu)
c.2732C>T (p.Pro911Leu)
c.1052C>T (p.Pro351Leu)
 dbSNP gnomAD v4
Xg.108621843A=CA2450696580COL4A5c.2718A= (p.Pro906=)
n.2174A=
c.2394A= (p.Pro798=)
c.291A= (p.Pro97=)
c.2733A= (p.Pro911=)
c.1053A= (p.Pro351=)
Xg.108621843A>CCA517924416COL4A5c.2718A>C (p.Pro906=)
n.2174A>C
c.2394A>C (p.Pro798=)
c.291A>C (p.Pro97=)
c.2733A>C (p.Pro911=)
c.1053A>C (p.Pro351=)
Xg.108621843A>GCA10488969COL4A5c.2718A>G (p.Pro906=)
n.2174A>G
c.2394A>G (p.Pro798=)
c.291A>G (p.Pro97=)
c.2733A>G (p.Pro911=)
c.1053A>G (p.Pro351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108621843A>TCA517924417COL4A5c.2718A>T (p.Pro906=)
n.2174A>T
c.2394A>T (p.Pro798=)
c.291A>T (p.Pro97=)
c.2733A>T (p.Pro911=)
c.1053A>T (p.Pro351=)
Xg.108621844C>ACA413852046COL4A5c.2719C>A (p.Pro907Thr)
n.2175C>A
c.2395C>A (p.Pro799Thr)
c.292C>A (p.Pro98Thr)
c.2734C>A (p.Pro912Thr)
c.1054C>A (p.Pro352Thr)
Xg.108621844C>GCA413852047COL4A5c.2719C>G (p.Pro907Ala)
n.2175C>G
c.2395C>G (p.Pro799Ala)
c.292C>G (p.Pro98Ala)
c.2734C>G (p.Pro912Ala)
c.1054C>G (p.Pro352Ala)
Xg.108621844C>TCA413852045COL4A5c.2719C>T (p.Pro907Ser)
n.2175C>T
c.2395C>T (p.Pro799Ser)
c.292C>T (p.Pro98Ser)
c.2734C>T (p.Pro912Ser)
c.1054C>T (p.Pro352Ser)
Xg.108621845C>ACA413852062COL4A5c.2720C>A (p.Pro907Gln)
n.2176C>A
c.2396C>A (p.Pro799Gln)
c.293C>A (p.Pro98Gln)
c.2735C>A (p.Pro912Gln)
c.1055C>A (p.Pro352Gln)
Xg.108621845C=CA2450696581COL4A5c.2720C= (p.Pro907=)
n.2176C=
c.2396C= (p.Pro799=)
c.293C= (p.Pro98=)
c.2735C= (p.Pro912=)
c.1055C= (p.Pro352=)
Xg.108621845C>GCA413852050COL4A5c.2720C>G (p.Pro907Arg)
n.2176C>G
c.2396C>G (p.Pro799Arg)
c.293C>G (p.Pro98Arg)
c.2735C>G (p.Pro912Arg)
c.1055C>G (p.Pro352Arg)
Xg.108621845C>TCA413852059COL4A5c.2720C>T (p.Pro907Leu)
n.2176C>T
c.2396C>T (p.Pro799Leu)
c.293C>T (p.Pro98Leu)
c.2735C>T (p.Pro912Leu)
c.1055C>T (p.Pro352Leu)
 dbSNP
Xg.108621846A=CA2450696582COL4A5c.2721A= (p.Pro907=)
n.2177A=
c.2397A= (p.Pro799=)
c.294A= (p.Pro98=)
c.2736A= (p.Pro912=)
c.1056A= (p.Pro352=)
Xg.108621846A>CCA517924423COL4A5c.2721A>C (p.Pro907=)
n.2177A>C
c.2397A>C (p.Pro799=)
c.294A>C (p.Pro98=)
c.2736A>C (p.Pro912=)
c.1056A>C (p.Pro352=)
Xg.108621846A>GCA517924422COL4A5c.2721A>G (p.Pro907=)
n.2177A>G
c.2397A>G (p.Pro799=)
c.294A>G (p.Pro98=)
c.2736A>G (p.Pro912=)
c.1056A>G (p.Pro352=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108621846A>TCA517924421COL4A5c.2721A>T (p.Pro907=)
n.2177A>T
c.2397A>T (p.Pro799=)
c.294A>T (p.Pro98=)
c.2736A>T (p.Pro912=)
c.1056A>T (p.Pro352=)
Xg.108621847G>ACA258745COL4A5c.2722G>A (p.Gly908Arg)
n.2178G>A
c.2398G>A (p.Gly800Arg)
c.295G>A (p.Gly99Arg)
c.2737G>A (p.Gly913Arg)
c.1057G>A (p.Gly353Arg)
 ClinVar dbSNP COSMIC
Xg.108621847G>CCA413852078COL4A5c.2722G>C (p.Gly908Arg)
n.2178G>C
c.2398G>C (p.Gly800Arg)
c.295G>C (p.Gly99Arg)
c.2737G>C (p.Gly913Arg)
c.1057G>C (p.Gly353Arg)
Xg.108621847G=CA2450696583COL4A5c.2722G= (p.Gly908=)
n.2178G=
c.2398G= (p.Gly800=)
c.295G= (p.Gly99=)
c.2737G= (p.Gly913=)
c.1057G= (p.Gly353=)
Xg.108621847G>TCA10603526COL4A5c.2722G>T (p.Gly908Ter)
n.2178G>T
c.2398G>T (p.Gly800Ter)
c.295G>T (p.Gly99Ter)
c.2737G>T (p.Gly913Ter)
c.1057G>T (p.Gly353Ter)
 ClinVar dbSNP
Xg.108621848G>ACA10581392COL4A5c.2723G>A (p.Gly908Glu)
n.2179G>A
c.2399G>A (p.Gly800Glu)
c.296G>A (p.Gly99Glu)
c.2738G>A (p.Gly913Glu)
c.1058G>A (p.Gly353Glu)
 ClinVar dbSNP
Xg.108621848G>CCA413852082COL4A5c.2723G>C (p.Gly908Ala)
n.2179G>C
c.2399G>C (p.Gly800Ala)
c.296G>C (p.Gly99Ala)
c.2738G>C (p.Gly913Ala)
c.1058G>C (p.Gly353Ala)
Xg.108621848G=CA2450696584COL4A5c.2723G= (p.Gly908=)
n.2179G=
c.2399G= (p.Gly800=)
c.296G= (p.Gly99=)
c.2738G= (p.Gly913=)
c.1058G= (p.Gly353=)
Xg.108621848G>TCA413852085COL4A5c.2723G>T (p.Gly908Val)
n.2179G>T
c.2399G>T (p.Gly800Val)
c.296G>T (p.Gly99Val)
c.2738G>T (p.Gly913Val)
c.1058G>T (p.Gly353Val)
Xg.108621849A>CCA517924427COL4A5c.2724A>C (p.Gly908=)
n.2180A>C
c.2400A>C (p.Gly800=)
c.297A>C (p.Gly99=)
c.2739A>C (p.Gly913=)
c.1059A>C (p.Gly353=)
Xg.108621849A>GCA517924428COL4A5c.2724A>G (p.Gly908=)
n.2180A>G
c.2400A>G (p.Gly800=)
c.297A>G (p.Gly99=)
c.2739A>G (p.Gly913=)
c.1059A>G (p.Gly353=)
Xg.108621849A>TCA517924429COL4A5c.2724A>T (p.Gly908=)
n.2180A>T
c.2400A>T (p.Gly800=)
c.297A>T (p.Gly99=)
c.2739A>T (p.Gly913=)
c.1059A>T (p.Gly353=)
Xg.108621850C>ACA413852087COL4A5c.2725C>A (p.Pro909Thr)
n.2181C>A
c.2401C>A (p.Pro801Thr)
c.298C>A (p.Pro100Thr)
c.2740C>A (p.Pro914Thr)
c.1060C>A (p.Pro354Thr)
Xg.108621850C>GCA413852090COL4A5c.2725C>G (p.Pro909Ala)
n.2181C>G
c.2401C>G (p.Pro801Ala)
c.298C>G (p.Pro100Ala)
c.2740C>G (p.Pro914Ala)
c.1060C>G (p.Pro354Ala)
Xg.108621850C>TCA413852092COL4A5c.2725C>T (p.Pro909Ser)
n.2181C>T
c.2401C>T (p.Pro801Ser)
c.298C>T (p.Pro100Ser)
c.2740C>T (p.Pro914Ser)
c.1060C>T (p.Pro354Ser)
Xg.108621851C>ACA413852096COL4A5c.2726C>A (p.Pro909His)
n.2182C>A
c.2402C>A (p.Pro801His)
c.299C>A (p.Pro100His)
c.2741C>A (p.Pro914His)
c.1061C>A (p.Pro354His)
Xg.108621851C>GCA413852097COL4A5c.2726C>G (p.Pro909Arg)
n.2182C>G
c.2402C>G (p.Pro801Arg)
c.299C>G (p.Pro100Arg)
c.2741C>G (p.Pro914Arg)
c.1061C>G (p.Pro354Arg)
Xg.108621851C>TCA413852098COL4A5c.2726C>T (p.Pro909Leu)
n.2182C>T
c.2402C>T (p.Pro801Leu)
c.299C>T (p.Pro100Leu)
c.2741C>T (p.Pro914Leu)
c.1061C>T (p.Pro354Leu)
Xg.108621852T>ACA517924433COL4A5c.2727T>A (p.Pro909=)
n.2183T>A
c.2403T>A (p.Pro801=)
c.300T>A (p.Pro100=)
c.2742T>A (p.Pro914=)
c.1062T>A (p.Pro354=)
Xg.108621852T>CCA517924434COL4A5c.2727T>C (p.Pro909=)
n.2183T>C
c.2403T>C (p.Pro801=)
c.300T>C (p.Pro100=)
c.2742T>C (p.Pro914=)
c.1062T>C (p.Pro354=)
Xg.108621852T>GCA517924435COL4A5c.2727T>G (p.Pro909=)
n.2183T>G
c.2403T>G (p.Pro801=)
c.300T>G (p.Pro100=)
c.2742T>G (p.Pro914=)
c.1062T>G (p.Pro354=)
Xg.108621853T>ACA413852101COL4A5c.2728T>A (p.Leu910Met)
n.2184T>A
c.2404T>A (p.Leu802Met)
c.301T>A (p.Leu101Met)
c.2743T>A (p.Leu915Met)
c.1063T>A (p.Leu355Met)
Xg.108621853T>CCA517924436COL4A5c.2728T>C (p.Leu910=)
n.2184T>C
c.2404T>C (p.Leu802=)
c.301T>C (p.Leu101=)
c.2743T>C (p.Leu915=)
c.1063T>C (p.Leu355=)
Xg.108621853T>GCA413852107COL4A5c.2728T>G (p.Leu910Val)
n.2184T>G
c.2404T>G (p.Leu802Val)
c.301T>G (p.Leu101Val)
c.2743T>G (p.Leu915Val)
c.1063T>G (p.Leu355Val)
Xg.108621854T>ACA413852109COL4A5c.2729T>A (p.Leu910Ter)
n.2185T>A
c.2405T>A (p.Leu802Ter)
c.302T>A (p.Leu101Ter)
c.2744T>A (p.Leu915Ter)
c.1064T>A (p.Leu355Ter)
 gnomAD v4
Xg.108621854T>CCA413852110COL4A5c.2729T>C (p.Leu910Ser)
n.2185T>C
c.2405T>C (p.Leu802Ser)
c.302T>C (p.Leu101Ser)
c.2744T>C (p.Leu915Ser)
c.1064T>C (p.Leu355Ser)
Xg.108621854T>GCA413852111COL4A5c.2729T>G (p.Leu910Trp)
n.2185T>G
c.2405T>G (p.Leu802Trp)
c.302T>G (p.Leu101Trp)
c.2744T>G (p.Leu915Trp)
c.1064T>G (p.Leu355Trp)
Xg.108621855G>ACA517924438COL4A5c.2730G>A (p.Leu910=)
n.2186G>A
c.2406G>A (p.Leu802=)
c.303G>A (p.Leu101=)
c.2745G>A (p.Leu915=)
c.1065G>A (p.Leu355=)
Xg.108621855G>CCA413852114COL4A5c.2730G>C (p.Leu910Phe)
n.2186G>C
c.2406G>C (p.Leu802Phe)
c.303G>C (p.Leu101Phe)
c.2745G>C (p.Leu915Phe)
c.1065G>C (p.Leu355Phe)
Xg.108621855G>TCA413852115COL4A5c.2730G>T (p.Leu910Phe)
n.2186G>T
c.2406G>T (p.Leu802Phe)
c.303G>T (p.Leu101Phe)
c.2745G>T (p.Leu915Phe)
c.1065G>T (p.Leu355Phe)
 gnomAD v4
Xg.108621857delCA2695235222COL4A5c.2732del (p.Gly911GlufsTer?)
n.2188del
c.2408del (p.Gly803GlufsTer?)
c.305del (p.Gly102GlufsTer?)
c.2747del (p.Gly916GlufsTer?)
c.1067del (p.Gly356GlufsTer?)
Xg.108621856G>ACA258748COL4A5c.2731G>A (p.Gly911Arg)
n.2187G>A
c.2407G>A (p.Gly803Arg)
c.304G>A (p.Gly102Arg)
c.2746G>A (p.Gly916Arg)
c.1066G>A (p.Gly356Arg)
 dbSNP COSMIC COSMIC
Xg.108621856G>CCA413852118COL4A5c.2731G>C (p.Gly911Arg)
n.2187G>C
c.2407G>C (p.Gly803Arg)
c.304G>C (p.Gly102Arg)
c.2746G>C (p.Gly916Arg)
c.1066G>C (p.Gly356Arg)
Xg.108621856G=CA2450696585COL4A5c.2731G= (p.Gly911=)
n.2187G=
c.2407G= (p.Gly803=)
c.304G= (p.Gly102=)
c.2746G= (p.Gly916=)
c.1066G= (p.Gly356=)
Xg.108621856G>TCA413852121COL4A5c.2731G>T (p.Gly911Ter)
n.2187G>T
c.2407G>T (p.Gly803Ter)
c.304G>T (p.Gly102Ter)
c.2746G>T (p.Gly916Ter)
c.1066G>T (p.Gly356Ter)
Xg.108621857G>ACA258751COL4A5c.2732G>A (p.Gly911Glu)
n.2188G>A
c.2408G>A (p.Gly803Glu)
c.305G>A (p.Gly102Glu)
c.2747G>A (p.Gly916Glu)
c.1067G>A (p.Gly356Glu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108621857G>CCA413852125COL4A5c.2732G>C (p.Gly911Ala)
n.2188G>C
c.2408G>C (p.Gly803Ala)
c.305G>C (p.Gly102Ala)
c.2747G>C (p.Gly916Ala)
c.1067G>C (p.Gly356Ala)
Xg.108621857G=CA2450696586COL4A5c.2732G= (p.Gly911=)
n.2188G=
c.2408G= (p.Gly803=)
c.305G= (p.Gly102=)
c.2747G= (p.Gly916=)
c.1067G= (p.Gly356=)
Xg.108621857G>TCA413852127COL4A5c.2732G>T (p.Gly911Val)
n.2188G>T
c.2408G>T (p.Gly803Val)
c.305G>T (p.Gly102Val)
c.2747G>T (p.Gly916Val)
c.1067G>T (p.Gly356Val)
Xg.108621858A>CCA517924441COL4A5c.2733A>C (p.Gly911=)
n.2189A>C
c.2409A>C (p.Gly803=)
c.306A>C (p.Gly102=)
c.2748A>C (p.Gly916=)
c.1068A>C (p.Gly356=)
Xg.108621858A>GCA517924443COL4A5c.2733A>G (p.Gly911=)
n.2189A>G
c.2409A>G (p.Gly803=)
c.306A>G (p.Gly102=)
c.2748A>G (p.Gly916=)
c.1068A>G (p.Gly356=)
Xg.108621858A>TCA517924445COL4A5c.2733A>T (p.Gly911=)
n.2189A>T
c.2409A>T (p.Gly803=)
c.306A>T (p.Gly102=)
c.2748A>T (p.Gly916=)
c.1068A>T (p.Gly356=)
Xg.108621859A>CCA413852132COL4A5c.2734A>C (p.Ile912Leu)
n.2190A>C
c.2410A>C (p.Ile804Leu)
c.307A>C (p.Ile103Leu)
c.2749A>C (p.Ile917Leu)
c.1069A>C (p.Ile357Leu)
Xg.108621859A>GCA413852131COL4A5c.2734A>G (p.Ile912Val)
n.2190A>G
c.2410A>G (p.Ile804Val)
c.307A>G (p.Ile103Val)
c.2749A>G (p.Ile917Val)
c.1069A>G (p.Ile357Val)
Xg.108621859A>TCA413852130COL4A5c.2734A>T (p.Ile912Phe)
n.2190A>T
c.2410A>T (p.Ile804Phe)
c.307A>T (p.Ile103Phe)
c.2749A>T (p.Ile917Phe)
c.1069A>T (p.Ile357Phe)
Xg.108621860T>ACA413852133COL4A5c.2735T>A (p.Ile912Asn)
n.2191T>A
c.2411T>A (p.Ile804Asn)
c.308T>A (p.Ile103Asn)
c.2750T>A (p.Ile917Asn)
c.1070T>A (p.Ile357Asn)
Xg.108621860T>CCA413852136COL4A5c.2735T>C (p.Ile912Thr)
n.2191T>C
c.2411T>C (p.Ile804Thr)
c.308T>C (p.Ile103Thr)
c.2750T>C (p.Ile917Thr)
c.1070T>C (p.Ile357Thr)
Xg.108621860T>GCA413852138COL4A5c.2735T>G (p.Ile912Ser)
n.2191T>G
c.2411T>G (p.Ile804Ser)
c.308T>G (p.Ile103Ser)
c.2750T>G (p.Ile917Ser)
c.1070T>G (p.Ile357Ser)

Number of alleles fetched