Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108686008A>TCA2694414708COL4A5c.4217-23A>T (n.4217-23A>T)
c.4199-23A>T (n.4199-23A>T)
n.711-23A>T
n.620-23A>T
c.13-23A>T
c.4208-23A>T (n.4208-23A>T)
c.3893-23A>T (n.3893-23A>T)
c.1790-23A>T (n.1790-23A>T)
c.4232-23A>T (n.4232-23A>T)
c.4223-23A>T (n.4223-23A>T)
c.4214-23A>T (n.4214-23A>T)
c.2552-23A>T (n.2552-23A>T)
 gnomAD v4
Xg.108686008_108686009delCA2579677121COL4A5c.4217-23_4217-22del (n.4217-23_4217-22del)
c.4199-23_4199-22del (n.4199-23_4199-22del)
n.711-23_711-22del
n.620-23_620-22del
c.13-23_13-22del
c.4208-23_4208-22del (n.4208-23_4208-22del)
c.3893-23_3893-22del (n.3893-23_3893-22del)
c.1790-23_1790-22del (n.1790-23_1790-22del)
c.4232-23_4232-22del (n.4232-23_4232-22del)
c.4223-23_4223-22del (n.4223-23_4223-22del)
c.4214-23_4214-22del (n.4214-23_4214-22del)
c.2552-23_2552-22del (n.2552-23_2552-22del)
 gnomAD v4
Xg.108686011G>ACA2450718747COL4A5c.4217-20G>A (n.4217-20G>A)
c.4199-20G>A (n.4199-20G>A)
n.711-20G>A
n.620-20G>A
c.13-20G>A
c.4208-20G>A (n.4208-20G>A)
c.3893-20G>A (n.3893-20G>A)
c.1790-20G>A (n.1790-20G>A)
c.4232-20G>A (n.4232-20G>A)
c.4223-20G>A (n.4223-20G>A)
c.4214-20G>A (n.4214-20G>A)
c.2552-20G>A (n.2552-20G>A)
 dbSNP gnomAD v4
Xg.108686011G=CA2450718746COL4A5c.4217-20G= (n.4217-20G=)
c.4199-20G= (n.4199-20G=)
n.711-20G=
n.620-20G=
c.13-20G=
c.4208-20G= (n.4208-20G=)
c.3893-20G= (n.3893-20G=)
c.1790-20G= (n.1790-20G=)
c.4232-20G= (n.4232-20G=)
c.4223-20G= (n.4223-20G=)
c.4214-20G= (n.4214-20G=)
c.2552-20G= (n.2552-20G=)
Xg.108686011G>TCA643637125COL4A5c.4217-20G>T (n.4217-20G>T)
c.4199-20G>T (n.4199-20G>T)
n.711-20G>T
n.620-20G>T
c.13-20G>T
c.4208-20G>T (n.4208-20G>T)
c.3893-20G>T (n.3893-20G>T)
c.1790-20G>T (n.1790-20G>T)
c.4232-20G>T (n.4232-20G>T)
c.4223-20G>T (n.4223-20G>T)
c.4214-20G>T (n.4214-20G>T)
c.2552-20G>T (n.2552-20G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108686012C>ACA2694414709COL4A5c.4217-19C>A (n.4217-19C>A)
c.4199-19C>A (n.4199-19C>A)
n.711-19C>A
n.620-19C>A
c.13-19C>A
c.4208-19C>A (n.4208-19C>A)
c.3893-19C>A (n.3893-19C>A)
c.1790-19C>A (n.1790-19C>A)
c.4232-19C>A (n.4232-19C>A)
c.4223-19C>A (n.4223-19C>A)
c.4214-19C>A (n.4214-19C>A)
c.2552-19C>A (n.2552-19C>A)
 gnomAD v4
Xg.108686012C=CA2450718748COL4A5c.4217-19C= (n.4217-19C=)
c.4199-19C= (n.4199-19C=)
n.711-19C=
n.620-19C=
c.13-19C=
c.4208-19C= (n.4208-19C=)
c.3893-19C= (n.3893-19C=)
c.1790-19C= (n.1790-19C=)
c.4232-19C= (n.4232-19C=)
c.4223-19C= (n.4223-19C=)
c.4214-19C= (n.4214-19C=)
c.2552-19C= (n.2552-19C=)
Xg.108686012C>TCA1136194861COL4A5c.4217-19C>T (n.4217-19C>T)
c.4199-19C>T (n.4199-19C>T)
n.711-19C>T
n.620-19C>T
c.13-19C>T
c.4208-19C>T (n.4208-19C>T)
c.3893-19C>T (n.3893-19C>T)
c.1790-19C>T (n.1790-19C>T)
c.4232-19C>T (n.4232-19C>T)
c.4223-19C>T (n.4223-19C>T)
c.4214-19C>T (n.4214-19C>T)
c.2552-19C>T (n.2552-19C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108686013C>ACA2694414710COL4A5c.4217-18C>A (n.4217-18C>A)
c.4199-18C>A (n.4199-18C>A)
n.711-18C>A
n.620-18C>A
c.13-18C>A
c.4208-18C>A (n.4208-18C>A)
c.3893-18C>A (n.3893-18C>A)
c.1790-18C>A (n.1790-18C>A)
c.4232-18C>A (n.4232-18C>A)
c.4223-18C>A (n.4223-18C>A)
c.4214-18C>A (n.4214-18C>A)
c.2552-18C>A (n.2552-18C>A)
 ClinVar gnomAD v4
Xg.108686013C>TCA2694414711COL4A5c.4217-18C>T (n.4217-18C>T)
c.4199-18C>T (n.4199-18C>T)
n.711-18C>T
n.620-18C>T
c.13-18C>T
c.4208-18C>T (n.4208-18C>T)
c.3893-18C>T (n.3893-18C>T)
c.1790-18C>T (n.1790-18C>T)
c.4232-18C>T (n.4232-18C>T)
c.4223-18C>T (n.4223-18C>T)
c.4214-18C>T (n.4214-18C>T)
c.2552-18C>T (n.2552-18C>T)
 gnomAD v4
Xg.108686014T>CCA2694414712COL4A5c.4217-17T>C (n.4217-17T>C)
c.4199-17T>C (n.4199-17T>C)
n.711-17T>C
n.620-17T>C
c.13-17T>C
c.4208-17T>C (n.4208-17T>C)
c.3893-17T>C (n.3893-17T>C)
c.1790-17T>C (n.1790-17T>C)
c.4232-17T>C (n.4232-17T>C)
c.4223-17T>C (n.4223-17T>C)
c.4214-17T>C (n.4214-17T>C)
c.2552-17T>C (n.2552-17T>C)
 gnomAD v4
Xg.108686015C>ACA643637126COL4A5c.4217-16C>A (n.4217-16C>A)
c.4199-16C>A (n.4199-16C>A)
n.711-16C>A
n.620-16C>A
c.13-16C>A
c.4208-16C>A (n.4208-16C>A)
c.3893-16C>A (n.3893-16C>A)
c.1790-16C>A (n.1790-16C>A)
c.4232-16C>A (n.4232-16C>A)
c.4223-16C>A (n.4223-16C>A)
c.4214-16C>A (n.4214-16C>A)
c.2552-16C>A (n.2552-16C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686015C=CA2450718749COL4A5c.4217-16C= (n.4217-16C=)
c.4199-16C= (n.4199-16C=)
n.711-16C=
n.620-16C=
c.13-16C=
c.4208-16C= (n.4208-16C=)
c.3893-16C= (n.3893-16C=)
c.1790-16C= (n.1790-16C=)
c.4232-16C= (n.4232-16C=)
c.4223-16C= (n.4223-16C=)
c.4214-16C= (n.4214-16C=)
c.2552-16C= (n.2552-16C=)
Xg.108686015C>TCA2580100155COL4A5c.4217-16C>T (n.4217-16C>T)
c.4199-16C>T (n.4199-16C>T)
n.711-16C>T
n.620-16C>T
c.13-16C>T
c.4208-16C>T (n.4208-16C>T)
c.3893-16C>T (n.3893-16C>T)
c.1790-16C>T (n.1790-16C>T)
c.4232-16C>T (n.4232-16C>T)
c.4223-16C>T (n.4223-16C>T)
c.4214-16C>T (n.4214-16C>T)
c.2552-16C>T (n.2552-16C>T)
 ClinVar gnomAD v4
Xg.108686016A>TCA2694414713COL4A5c.4217-15A>T (n.4217-15A>T)
c.4199-15A>T (n.4199-15A>T)
n.711-15A>T
n.620-15A>T
c.13-15A>T
c.4208-15A>T (n.4208-15A>T)
c.3893-15A>T (n.3893-15A>T)
c.1790-15A>T (n.1790-15A>T)
c.4232-15A>T (n.4232-15A>T)
c.4223-15A>T (n.4223-15A>T)
c.4214-15A>T (n.4214-15A>T)
c.2552-15A>T (n.2552-15A>T)
 gnomAD v4
Xg.108686017T>GCA2740097969COL4A5c.4217-14T>G (n.4217-14T>G)
c.4199-14T>G (n.4199-14T>G)
n.711-14T>G
n.620-14T>G
c.13-14T>G
c.4208-14T>G (n.4208-14T>G)
c.3893-14T>G (n.3893-14T>G)
c.1790-14T>G (n.1790-14T>G)
c.4232-14T>G (n.4232-14T>G)
c.4223-14T>G (n.4223-14T>G)
c.4214-14T>G (n.4214-14T>G)
c.2552-14T>G (n.2552-14T>G)
 ClinVar
Xg.108686019C>ACA334058304COL4A5c.4217-12C>A (n.4217-12C>A)
c.4199-12C>A (n.4199-12C>A)
n.711-12C>A
n.620-12C>A
c.13-12C>A
c.4208-12C>A (n.4208-12C>A)
c.3893-12C>A (n.3893-12C>A)
c.1790-12C>A (n.1790-12C>A)
c.4232-12C>A (n.4232-12C>A)
c.4223-12C>A (n.4223-12C>A)
c.4214-12C>A (n.4214-12C>A)
c.2552-12C>A (n.2552-12C>A)
 dbSNP gnomAD v4
Xg.108686019C=CA2450718750COL4A5c.4217-12C= (n.4217-12C=)
c.4199-12C= (n.4199-12C=)
n.711-12C=
n.620-12C=
c.13-12C=
c.4208-12C= (n.4208-12C=)
c.3893-12C= (n.3893-12C=)
c.1790-12C= (n.1790-12C=)
c.4232-12C= (n.4232-12C=)
c.4223-12C= (n.4223-12C=)
c.4214-12C= (n.4214-12C=)
c.2552-12C= (n.2552-12C=)
Xg.108686023dupCA2694414714COL4A5c.4217-8dup (n.4217-8dup)
c.4199-8dup (n.4199-8dup)
n.711-8dup
n.620-8dup
c.13-8dup
c.4208-8dup (n.4208-8dup)
c.3893-8dup (n.3893-8dup)
c.1790-8dup (n.1790-8dup)
c.4232-8dup (n.4232-8dup)
c.4223-8dup (n.4223-8dup)
c.4214-8dup (n.4214-8dup)
c.2552-8dup (n.2552-8dup)
 gnomAD v4
Xg.108686023delCA2579677122COL4A5c.4217-8del (n.4217-8del)
c.4199-8del (n.4199-8del)
n.711-8del
n.620-8del
c.13-8del
c.4208-8del (n.4208-8del)
c.3893-8del (n.3893-8del)
c.1790-8del (n.1790-8del)
c.4232-8del (n.4232-8del)
c.4223-8del (n.4223-8del)
c.4214-8del (n.4214-8del)
c.2552-8del (n.2552-8del)
 gnomAD v4
Xg.108686023T>CCA2694414715COL4A5c.4217-8T>C (n.4217-8T>C)
c.4199-8T>C (n.4199-8T>C)
n.711-8T>C
n.620-8T>C
c.13-8T>C
c.4208-8T>C (n.4208-8T>C)
c.3893-8T>C (n.3893-8T>C)
c.1790-8T>C (n.1790-8T>C)
c.4232-8T>C (n.4232-8T>C)
c.4223-8T>C (n.4223-8T>C)
c.4214-8T>C (n.4214-8T>C)
c.2552-8T>C (n.2552-8T>C)
 gnomAD v4
Xg.108686024C>ACA2694414716COL4A5c.4217-7C>A (n.4217-7C>A)
c.4199-7C>A (n.4199-7C>A)
n.711-7C>A
n.620-7C>A
c.13-7C>A
c.4208-7C>A (n.4208-7C>A)
c.3893-7C>A (n.3893-7C>A)
c.1790-7C>A (n.1790-7C>A)
c.4232-7C>A (n.4232-7C>A)
c.4223-7C>A (n.4223-7C>A)
c.4214-7C>A (n.4214-7C>A)
c.2552-7C>A (n.2552-7C>A)
 gnomAD v4
Xg.108686024C=CA2450718751COL4A5c.4217-7C= (n.4217-7C=)
c.4199-7C= (n.4199-7C=)
n.711-7C=
n.620-7C=
c.13-7C=
c.4208-7C= (n.4208-7C=)
c.3893-7C= (n.3893-7C=)
c.1790-7C= (n.1790-7C=)
c.4232-7C= (n.4232-7C=)
c.4223-7C= (n.4223-7C=)
c.4214-7C= (n.4214-7C=)
c.2552-7C= (n.2552-7C=)
Xg.108686024C>TCA643637127COL4A5c.4217-7C>T (n.4217-7C>T)
c.4199-7C>T (n.4199-7C>T)
n.711-7C>T
n.620-7C>T
c.13-7C>T
c.4208-7C>T (n.4208-7C>T)
c.3893-7C>T (n.3893-7C>T)
c.1790-7C>T (n.1790-7C>T)
c.4232-7C>T (n.4232-7C>T)
c.4223-7C>T (n.4223-7C>T)
c.4214-7C>T (n.4214-7C>T)
c.2552-7C>T (n.2552-7C>T)
 dbSNP gnomAD v2
Xg.108686025C=CA2450718752COL4A5c.4217-6C= (n.4217-6C=)
c.4199-6C= (n.4199-6C=)
n.711-6C=
n.620-6C=
c.13-6C=
c.4208-6C= (n.4208-6C=)
c.3893-6C= (n.3893-6C=)
c.1790-6C= (n.1790-6C=)
c.4232-6C= (n.4232-6C=)
c.4223-6C= (n.4223-6C=)
c.4214-6C= (n.4214-6C=)
c.2552-6C= (n.2552-6C=)
Xg.108686025C>GCA2697544696COL4A5c.4217-6C>G (n.4217-6C>G)
c.4199-6C>G (n.4199-6C>G)
n.711-6C>G
n.620-6C>G
c.13-6C>G
c.4208-6C>G (n.4208-6C>G)
c.3893-6C>G (n.3893-6C>G)
c.1790-6C>G (n.1790-6C>G)
c.4232-6C>G (n.4232-6C>G)
c.4223-6C>G (n.4223-6C>G)
c.4214-6C>G (n.4214-6C>G)
c.2552-6C>G (n.2552-6C>G)
 ClinVar
Xg.108686025C>TCA10489323COL4A5c.4217-6C>T (n.4217-6C>T)
c.4199-6C>T (n.4199-6C>T)
n.711-6C>T
n.620-6C>T
c.13-6C>T
c.4208-6C>T (n.4208-6C>T)
c.3893-6C>T (n.3893-6C>T)
c.1790-6C>T (n.1790-6C>T)
c.4232-6C>T (n.4232-6C>T)
c.4223-6C>T (n.4223-6C>T)
c.4214-6C>T (n.4214-6C>T)
c.2552-6C>T (n.2552-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108686026T>ACA2555989946COL4A5c.4217-5T>A (n.4217-5T>A)
c.4199-5T>A (n.4199-5T>A)
n.711-5T>A
n.620-5T>A
c.13-5T>A
c.4208-5T>A (n.4208-5T>A)
c.3893-5T>A (n.3893-5T>A)
c.1790-5T>A (n.1790-5T>A)
c.4232-5T>A (n.4232-5T>A)
c.4223-5T>A (n.4223-5T>A)
c.4214-5T>A (n.4214-5T>A)
c.2552-5T>A (n.2552-5T>A)
Xg.108686026T>CCA2694414717COL4A5c.4217-5T>C (n.4217-5T>C)
c.4199-5T>C (n.4199-5T>C)
n.711-5T>C
n.620-5T>C
c.13-5T>C
c.4208-5T>C (n.4208-5T>C)
c.3893-5T>C (n.3893-5T>C)
c.1790-5T>C (n.1790-5T>C)
c.4232-5T>C (n.4232-5T>C)
c.4223-5T>C (n.4223-5T>C)
c.4214-5T>C (n.4214-5T>C)
c.2552-5T>C (n.2552-5T>C)
 gnomAD v4
Xg.108686029A>CCA413853323COL4A5c.4217-2A>C (n.4217-2A>C)
c.4199-2A>C (n.4199-2A>C)
n.711-2A>C
n.620-2A>C
c.13-2A>C
c.4208-2A>C (n.4208-2A>C)
c.3893-2A>C (n.3893-2A>C)
c.1790-2A>C (n.1790-2A>C)
c.4232-2A>C (n.4232-2A>C)
c.4223-2A>C (n.4223-2A>C)
c.4214-2A>C (n.4214-2A>C)
c.2552-2A>C (n.2552-2A>C)
Xg.108686029A>GCA413853320COL4A5c.4217-2A>G (n.4217-2A>G)
c.4199-2A>G (n.4199-2A>G)
n.711-2A>G
n.620-2A>G
c.13-2A>G
c.4208-2A>G (n.4208-2A>G)
c.3893-2A>G (n.3893-2A>G)
c.1790-2A>G (n.1790-2A>G)
c.4232-2A>G (n.4232-2A>G)
c.4223-2A>G (n.4223-2A>G)
c.4214-2A>G (n.4214-2A>G)
c.2552-2A>G (n.2552-2A>G)
 gnomAD v4
Xg.108686029A>TCA413853321COL4A5c.4217-2A>T (n.4217-2A>T)
c.4199-2A>T (n.4199-2A>T)
n.711-2A>T
n.620-2A>T
c.13-2A>T
c.4208-2A>T (n.4208-2A>T)
c.3893-2A>T (n.3893-2A>T)
c.1790-2A>T (n.1790-2A>T)
c.4232-2A>T (n.4232-2A>T)
c.4223-2A>T (n.4223-2A>T)
c.4214-2A>T (n.4214-2A>T)
c.2552-2A>T (n.2552-2A>T)
Xg.108686029_108686030delCA2579677123COL4A5c.4217-2_4217-1del (n.4217-2_4217-1del)
c.4199-2_4199-1del (n.4199-2_4199-1del)
n.711-2_711-1del
n.620-2_620-1del
c.13-2_13-1del
c.4208-2_4208-1del (n.4208-2_4208-1del)
c.3893-2_3893-1del (n.3893-2_3893-1del)
c.1790-2_1790-1del (n.1790-2_1790-1del)
c.4232-2_4232-1del (n.4232-2_4232-1del)
c.4223-2_4223-1del (n.4223-2_4223-1del)
c.4214-2_4214-1del (n.4214-2_4214-1del)
c.2552-2_2552-1del (n.2552-2_2552-1del)
Xg.108686029_108686037delCA2573017371COL4A5c.4217-2_4223del
c.4199-2_4205del
n.711-2_717del
n.620-2_626del
c.13-2_19del
c.4208-2_4214del
c.3893-2_3899del
c.1790-2_1796del
c.4232-2_4238del
c.4223-2_4229del
c.4214-2_4220del
c.2552-2_2558del
Xg.108686030G>ACA259003COL4A5c.4217-1G>A (n.4217-1G>A)
c.4199-1G>A (n.4199-1G>A)
n.711-1G>A
n.620-1G>A
c.13-1G>A
c.4208-1G>A (n.4208-1G>A)
c.3893-1G>A (n.3893-1G>A)
c.1790-1G>A (n.1790-1G>A)
c.4232-1G>A (n.4232-1G>A)
c.4223-1G>A (n.4223-1G>A)
c.4214-1G>A (n.4214-1G>A)
c.2552-1G>A (n.2552-1G>A)
 ClinVar dbSNP
Xg.108686030G>CCA413853326COL4A5c.4217-1G>C (n.4217-1G>C)
c.4199-1G>C (n.4199-1G>C)
n.711-1G>C
n.620-1G>C
c.13-1G>C
c.4208-1G>C (n.4208-1G>C)
c.3893-1G>C (n.3893-1G>C)
c.1790-1G>C (n.1790-1G>C)
c.4232-1G>C (n.4232-1G>C)
c.4223-1G>C (n.4223-1G>C)
c.4214-1G>C (n.4214-1G>C)
c.2552-1G>C (n.2552-1G>C)
Xg.108686030G=CA2450718753COL4A5c.4217-1G= (n.4217-1G=)
c.4199-1G= (n.4199-1G=)
n.711-1G=
n.620-1G=
c.13-1G=
c.4208-1G= (n.4208-1G=)
c.3893-1G= (n.3893-1G=)
c.1790-1G= (n.1790-1G=)
c.4232-1G= (n.4232-1G=)
c.4223-1G= (n.4223-1G=)
c.4214-1G= (n.4214-1G=)
c.2552-1G= (n.2552-1G=)
Xg.108686030G>TCA413853328COL4A5c.4217-1G>T (n.4217-1G>T)
c.4199-1G>T (n.4199-1G>T)
n.711-1G>T
n.620-1G>T
c.13-1G>T
c.4208-1G>T (n.4208-1G>T)
c.3893-1G>T (n.3893-1G>T)
c.1790-1G>T (n.1790-1G>T)
c.4232-1G>T (n.4232-1G>T)
c.4223-1G>T (n.4223-1G>T)
c.4214-1G>T (n.4214-1G>T)
c.2552-1G>T (n.2552-1G>T)
Xg.108686031delCA2579677124COL4A5c.4217del
c.4199del
n.711del
n.620del
c.13del
c.4208del
c.3893del
c.1790del
c.4232del
c.4223del
c.4214del
c.2552del
Xg.108686031G>ACA413853329COL4A5c.4217G>A (p.Gly1406Asp)
c.4199G>A (p.Gly1400Asp)
n.711G>A
n.620G>A
c.13G>A
c.4208G>A (p.Gly1403Asp)
c.3893G>A (p.Gly1298Asp)
c.1790G>A (p.Gly597Asp)
c.4232G>A (p.Gly1411Asp)
c.4223G>A (p.Gly1408Asp)
c.4214G>A (p.Gly1405Asp)
c.2552G>A (p.Gly851Asp)
Xg.108686031G>CCA413853340COL4A5c.4217G>C (p.Gly1406Ala)
c.4199G>C (p.Gly1400Ala)
n.711G>C
n.620G>C
c.13G>C
c.4208G>C (p.Gly1403Ala)
c.3893G>C (p.Gly1298Ala)
c.1790G>C (p.Gly597Ala)
c.4232G>C (p.Gly1411Ala)
c.4223G>C (p.Gly1408Ala)
c.4214G>C (p.Gly1405Ala)
c.2552G>C (p.Gly851Ala)
Xg.108686031G>TCA413853342COL4A5c.4217G>T (p.Gly1406Val)
c.4199G>T (p.Gly1400Val)
n.711G>T
n.620G>T
c.13G>T
c.4208G>T (p.Gly1403Val)
c.3893G>T (p.Gly1298Val)
c.1790G>T (p.Gly597Val)
c.4232G>T (p.Gly1411Val)
c.4223G>T (p.Gly1408Val)
c.4214G>T (p.Gly1405Val)
c.2552G>T (p.Gly851Val)
Xg.108686032T>ACA517924008COL4A5c.4218T>A (p.Gly1406=)
c.4200T>A (p.Gly1400=)
n.712T>A
n.621T>A
c.14T>A
c.4209T>A (p.Gly1403=)
c.3894T>A (p.Gly1298=)
c.1791T>A (p.Gly597=)
c.4233T>A (p.Gly1411=)
c.4224T>A (p.Gly1408=)
c.4215T>A (p.Gly1405=)
c.2553T>A (p.Gly851=)
Xg.108686032T>CCA517924010COL4A5c.4218T>C (p.Gly1406=)
c.4200T>C (p.Gly1400=)
n.712T>C
n.621T>C
c.14T>C
c.4209T>C (p.Gly1403=)
c.3894T>C (p.Gly1298=)
c.1791T>C (p.Gly597=)
c.4233T>C (p.Gly1411=)
c.4224T>C (p.Gly1408=)
c.4215T>C (p.Gly1405=)
c.2553T>C (p.Gly851=)
Xg.108686032T>GCA517924012COL4A5c.4218T>G (p.Gly1406=)
c.4200T>G (p.Gly1400=)
n.712T>G
n.621T>G
c.14T>G
c.4209T>G (p.Gly1403=)
c.3894T>G (p.Gly1298=)
c.1791T>G (p.Gly597=)
c.4233T>G (p.Gly1411=)
c.4224T>G (p.Gly1408=)
c.4215T>G (p.Gly1405=)
c.2553T>G (p.Gly851=)
Xg.108686033C>ACA413853345COL4A5c.4219C>A (p.Pro1407Thr)
c.4201C>A (p.Pro1401Thr)
n.713C>A
n.622C>A
c.15C>A
c.4210C>A (p.Pro1404Thr)
c.3895C>A (p.Pro1299Thr)
c.1792C>A (p.Pro598Thr)
c.4234C>A (p.Pro1412Thr)
c.4225C>A (p.Pro1409Thr)
c.4216C>A (p.Pro1406Thr)
c.2554C>A (p.Pro852Thr)
Xg.108686033C>GCA413853346COL4A5c.4219C>G (p.Pro1407Ala)
c.4201C>G (p.Pro1401Ala)
n.713C>G
n.622C>G
c.15C>G
c.4210C>G (p.Pro1404Ala)
c.3895C>G (p.Pro1299Ala)
c.1792C>G (p.Pro598Ala)
c.4234C>G (p.Pro1412Ala)
c.4225C>G (p.Pro1409Ala)
c.4216C>G (p.Pro1406Ala)
c.2554C>G (p.Pro852Ala)
Xg.108686033C>TCA413853349COL4A5c.4219C>T (p.Pro1407Ser)
c.4201C>T (p.Pro1401Ser)
n.713C>T
n.622C>T
c.15C>T
c.4210C>T (p.Pro1404Ser)
c.3895C>T (p.Pro1299Ser)
c.1792C>T (p.Pro598Ser)
c.4234C>T (p.Pro1412Ser)
c.4225C>T (p.Pro1409Ser)
c.4216C>T (p.Pro1406Ser)
c.2554C>T (p.Pro852Ser)
Xg.108686034delCA2580612456COL4A5c.4220del (p.Pro1407GlnfsTer?)
c.4202del (p.Pro1401GlnfsTer?)
n.714del
n.623del
c.16del
c.4211del (p.Pro1404GlnfsTer?)
c.3896del (p.Pro1299GlnfsTer?)
c.1793del (p.Pro598GlnfsTer?)
c.4235del (p.Pro1412GlnfsTer?)
c.4226del (p.Pro1409GlnfsTer?)
c.4217del (p.Pro1406GlnfsTer?)
c.2555del (p.Pro852GlnfsTer?)
 ClinVar
Xg.108686034C>ACA413853356COL4A5c.4220C>A (p.Pro1407Gln)
c.4202C>A (p.Pro1401Gln)
n.714C>A
n.623C>A
c.16C>A
c.4211C>A (p.Pro1404Gln)
c.3896C>A (p.Pro1299Gln)
c.1793C>A (p.Pro598Gln)
c.4235C>A (p.Pro1412Gln)
c.4226C>A (p.Pro1409Gln)
c.4217C>A (p.Pro1406Gln)
c.2555C>A (p.Pro852Gln)
Xg.108686034C>GCA413853354COL4A5c.4220C>G (p.Pro1407Arg)
c.4202C>G (p.Pro1401Arg)
n.714C>G
n.623C>G
c.16C>G
c.4211C>G (p.Pro1404Arg)
c.3896C>G (p.Pro1299Arg)
c.1793C>G (p.Pro598Arg)
c.4235C>G (p.Pro1412Arg)
c.4226C>G (p.Pro1409Arg)
c.4217C>G (p.Pro1406Arg)
c.2555C>G (p.Pro852Arg)
Xg.108686034C>TCA413853352COL4A5c.4220C>T (p.Pro1407Leu)
c.4202C>T (p.Pro1401Leu)
n.714C>T
n.623C>T
c.16C>T
c.4211C>T (p.Pro1404Leu)
c.3896C>T (p.Pro1299Leu)
c.1793C>T (p.Pro598Leu)
c.4235C>T (p.Pro1412Leu)
c.4226C>T (p.Pro1409Leu)
c.4217C>T (p.Pro1406Leu)
c.2555C>T (p.Pro852Leu)
Xg.108686034_108686035delinsCACA2450718754COL4A5c.4220_4221delinsCA (p.Pro1407=)
c.4202_4203delinsCA (p.Pro1401=)
n.714_715delinsCA
n.623_624delinsCA
c.16_17delinsCA
c.4211_4212delinsCA (p.Pro1404=)
c.3896_3897delinsCA (p.Pro1299=)
c.1793_1794delinsCA (p.Pro598=)
c.4235_4236delinsCA (p.Pro1412=)
c.4226_4227delinsCA (p.Pro1409=)
c.4217_4218delinsCA (p.Pro1406=)
c.2555_2556delinsCA (p.Pro852=)
Xg.108686035A>CCA517924016COL4A5c.4221A>C (p.Pro1407=)
c.4203A>C (p.Pro1401=)
n.715A>C
n.624A>C
c.17A>C
c.4212A>C (p.Pro1404=)
c.3897A>C (p.Pro1299=)
c.1794A>C (p.Pro598=)
c.4236A>C (p.Pro1412=)
c.4227A>C (p.Pro1409=)
c.4218A>C (p.Pro1406=)
c.2556A>C (p.Pro852=)
Xg.108686035A>GCA517924014COL4A5c.4221A>G (p.Pro1407=)
c.4203A>G (p.Pro1401=)
n.715A>G
n.624A>G
c.17A>G
c.4212A>G (p.Pro1404=)
c.3897A>G (p.Pro1299=)
c.1794A>G (p.Pro598=)
c.4236A>G (p.Pro1412=)
c.4227A>G (p.Pro1409=)
c.4218A>G (p.Pro1406=)
c.2556A>G (p.Pro852=)
Xg.108686035A>TCA517924018COL4A5c.4221A>T (p.Pro1407=)
c.4203A>T (p.Pro1401=)
n.715A>T
n.624A>T
c.17A>T
c.4212A>T (p.Pro1404=)
c.3897A>T (p.Pro1299=)
c.1794A>T (p.Pro598=)
c.4236A>T (p.Pro1412=)
c.4227A>T (p.Pro1409=)
c.4218A>T (p.Pro1406=)
c.2556A>T (p.Pro852=)
Xg.108686036delCA916083993COL4A5c.4222del (p.Thr1408LeufsTer?)
c.4204del (p.Thr1402LeufsTer?)
n.716del
n.625del
c.18del
c.4213del (p.Thr1405LeufsTer?)
c.3898del (p.Thr1300LeufsTer?)
c.1795del (p.Thr599LeufsTer?)
c.4237del (p.Thr1413LeufsTer?)
c.4228del (p.Thr1410LeufsTer?)
c.4219del (p.Thr1407LeufsTer?)
c.2557del (p.Thr853LeufsTer?)
 ClinVar dbSNP
Xg.108686036A>CCA413853359COL4A5c.4222A>C (p.Thr1408Pro)
c.4204A>C (p.Thr1402Pro)
n.716A>C
n.625A>C
c.18A>C
c.4213A>C (p.Thr1405Pro)
c.3898A>C (p.Thr1300Pro)
c.1795A>C (p.Thr599Pro)
c.4237A>C (p.Thr1413Pro)
c.4228A>C (p.Thr1410Pro)
c.4219A>C (p.Thr1407Pro)
c.2557A>C (p.Thr853Pro)
Xg.108686036A>GCA413853362COL4A5c.4222A>G (p.Thr1408Ala)
c.4204A>G (p.Thr1402Ala)
n.716A>G
n.625A>G
c.18A>G
c.4213A>G (p.Thr1405Ala)
c.3898A>G (p.Thr1300Ala)
c.1795A>G (p.Thr599Ala)
c.4237A>G (p.Thr1413Ala)
c.4228A>G (p.Thr1410Ala)
c.4219A>G (p.Thr1407Ala)
c.2557A>G (p.Thr853Ala)
 gnomAD v4
Xg.108686036A>TCA413853364COL4A5c.4222A>T (p.Thr1408Ser)
c.4204A>T (p.Thr1402Ser)
n.716A>T
n.625A>T
c.18A>T
c.4213A>T (p.Thr1405Ser)
c.3898A>T (p.Thr1300Ser)
c.1795A>T (p.Thr599Ser)
c.4237A>T (p.Thr1413Ser)
c.4228A>T (p.Thr1410Ser)
c.4219A>T (p.Thr1407Ser)
c.2557A>T (p.Thr853Ser)
Xg.108686037C>ACA413853365COL4A5c.4223C>A (p.Thr1408Asn)
c.4205C>A (p.Thr1402Asn)
n.717C>A
n.626C>A
c.19C>A
c.4214C>A (p.Thr1405Asn)
c.3899C>A (p.Thr1300Asn)
c.1796C>A (p.Thr599Asn)
c.4238C>A (p.Thr1413Asn)
c.4229C>A (p.Thr1410Asn)
c.4220C>A (p.Thr1407Asn)
c.2558C>A (p.Thr853Asn)
Xg.108686037C=CA2450718755COL4A5c.4223C= (p.Thr1408=)
c.4205C= (p.Thr1402=)
n.717C=
n.626C=
c.19C=
c.4214C= (p.Thr1405=)
c.3899C= (p.Thr1300=)
c.1796C= (p.Thr599=)
c.4238C= (p.Thr1413=)
c.4229C= (p.Thr1410=)
c.4220C= (p.Thr1407=)
c.2558C= (p.Thr853=)
Xg.108686037C>GCA10489324COL4A5c.4223C>G (p.Thr1408Ser)
c.4205C>G (p.Thr1402Ser)
n.717C>G
n.626C>G
c.19C>G
c.4214C>G (p.Thr1405Ser)
c.3899C>G (p.Thr1300Ser)
c.1796C>G (p.Thr599Ser)
c.4238C>G (p.Thr1413Ser)
c.4229C>G (p.Thr1410Ser)
c.4220C>G (p.Thr1407Ser)
c.2558C>G (p.Thr853Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686037C>TCA413853366COL4A5c.4223C>T (p.Thr1408Ile)
c.4205C>T (p.Thr1402Ile)
n.717C>T
n.626C>T
c.19C>T
c.4214C>T (p.Thr1405Ile)
c.3899C>T (p.Thr1300Ile)
c.1796C>T (p.Thr599Ile)
c.4238C>T (p.Thr1413Ile)
c.4229C>T (p.Thr1410Ile)
c.4220C>T (p.Thr1407Ile)
c.2558C>T (p.Thr853Ile)
Xg.108686038T>ACA517924022COL4A5c.4224T>A (p.Thr1408=)
c.4206T>A (p.Thr1402=)
n.718T>A
n.627T>A
c.20T>A
c.4215T>A (p.Thr1405=)
c.3900T>A (p.Thr1300=)
c.1797T>A (p.Thr599=)
c.4239T>A (p.Thr1413=)
c.4230T>A (p.Thr1410=)
c.4221T>A (p.Thr1407=)
c.2559T>A (p.Thr853=)
Xg.108686038T>CCA517924024COL4A5c.4224T>C (p.Thr1408=)
c.4206T>C (p.Thr1402=)
n.718T>C
n.627T>C
c.20T>C
c.4215T>C (p.Thr1405=)
c.3900T>C (p.Thr1300=)
c.1797T>C (p.Thr599=)
c.4239T>C (p.Thr1413=)
c.4230T>C (p.Thr1410=)
c.4221T>C (p.Thr1407=)
c.2559T>C (p.Thr853=)
 gnomAD v4
Xg.108686038T>GCA517924023COL4A5c.4224T>G (p.Thr1408=)
c.4206T>G (p.Thr1402=)
n.718T>G
n.627T>G
c.20T>G
c.4215T>G (p.Thr1405=)
c.3900T>G (p.Thr1300=)
c.1797T>G (p.Thr599=)
c.4239T>G (p.Thr1413=)
c.4230T>G (p.Thr1410=)
c.4221T>G (p.Thr1407=)
c.2559T>G (p.Thr853=)
Xg.108686039G>ACA413853367COL4A5c.4225G>A (p.Gly1409Ser)
c.4207G>A (p.Gly1403Ser)
n.719G>A
n.628G>A
c.21G>A
c.4216G>A (p.Gly1406Ser)
c.3901G>A (p.Gly1301Ser)
c.1798G>A (p.Gly600Ser)
c.4240G>A (p.Gly1414Ser)
c.4231G>A (p.Gly1411Ser)
c.4222G>A (p.Gly1408Ser)
c.2560G>A (p.Gly854Ser)
Xg.108686039G>CCA413853368COL4A5c.4225G>C (p.Gly1409Arg)
c.4207G>C (p.Gly1403Arg)
n.719G>C
n.628G>C
c.21G>C
c.4216G>C (p.Gly1406Arg)
c.3901G>C (p.Gly1301Arg)
c.1798G>C (p.Gly600Arg)
c.4240G>C (p.Gly1414Arg)
c.4231G>C (p.Gly1411Arg)
c.4222G>C (p.Gly1408Arg)
c.2560G>C (p.Gly854Arg)
Xg.108686039G>TCA413853371COL4A5c.4225G>T (p.Gly1409Cys)
c.4207G>T (p.Gly1403Cys)
n.719G>T
n.628G>T
c.21G>T
c.4216G>T (p.Gly1406Cys)
c.3901G>T (p.Gly1301Cys)
c.1798G>T (p.Gly600Cys)
c.4240G>T (p.Gly1414Cys)
c.4231G>T (p.Gly1411Cys)
c.4222G>T (p.Gly1408Cys)
c.2560G>T (p.Gly854Cys)
Xg.108686040G>ACA413853373COL4A5c.4226G>A (p.Gly1409Asp)
c.4208G>A (p.Gly1403Asp)
n.720G>A
n.629G>A
c.22G>A
c.4217G>A (p.Gly1406Asp)
c.3902G>A (p.Gly1301Asp)
c.1799G>A (p.Gly600Asp)
c.4241G>A (p.Gly1414Asp)
c.4232G>A (p.Gly1411Asp)
c.4223G>A (p.Gly1408Asp)
c.2561G>A (p.Gly854Asp)
 gnomAD v4
Xg.108686040G>CCA413853375COL4A5c.4226G>C (p.Gly1409Ala)
c.4208G>C (p.Gly1403Ala)
n.720G>C
n.629G>C
c.22G>C
c.4217G>C (p.Gly1406Ala)
c.3902G>C (p.Gly1301Ala)
c.1799G>C (p.Gly600Ala)
c.4241G>C (p.Gly1414Ala)
c.4232G>C (p.Gly1411Ala)
c.4223G>C (p.Gly1408Ala)
c.2561G>C (p.Gly854Ala)
Xg.108686040G>TCA413853381COL4A5c.4226G>T (p.Gly1409Val)
c.4208G>T (p.Gly1403Val)
n.720G>T
n.629G>T
c.22G>T
c.4217G>T (p.Gly1406Val)
c.3902G>T (p.Gly1301Val)
c.1799G>T (p.Gly600Val)
c.4241G>T (p.Gly1414Val)
c.4232G>T (p.Gly1411Val)
c.4223G>T (p.Gly1408Val)
c.2561G>T (p.Gly854Val)
Xg.108686041C>ACA517924034COL4A5c.4227C>A (p.Gly1409=)
c.4209C>A (p.Gly1403=)
n.721C>A
n.630C>A
c.23C>A
c.4218C>A (p.Gly1406=)
c.3903C>A (p.Gly1301=)
c.1800C>A (p.Gly600=)
c.4242C>A (p.Gly1414=)
c.4233C>A (p.Gly1411=)
c.4224C>A (p.Gly1408=)
c.2562C>A (p.Gly854=)
Xg.108686041C>GCA517924035COL4A5c.4227C>G (p.Gly1409=)
c.4209C>G (p.Gly1403=)
n.721C>G
n.630C>G
c.23C>G
c.4218C>G (p.Gly1406=)
c.3903C>G (p.Gly1301=)
c.1800C>G (p.Gly600=)
c.4242C>G (p.Gly1414=)
c.4233C>G (p.Gly1411=)
c.4224C>G (p.Gly1408=)
c.2562C>G (p.Gly854=)
Xg.108686041C>TCA517924036COL4A5c.4227C>T (p.Gly1409=)
c.4209C>T (p.Gly1403=)
n.721C>T
n.630C>T
c.23C>T
c.4218C>T (p.Gly1406=)
c.3903C>T (p.Gly1301=)
c.1800C>T (p.Gly600=)
c.4242C>T (p.Gly1414=)
c.4233C>T (p.Gly1411=)
c.4224C>T (p.Gly1408=)
c.2562C>T (p.Gly854=)
 gnomAD v4
Xg.108686042C>ACA413853390COL4A5c.4228C>A (p.Pro1410Thr)
c.4210C>A (p.Pro1404Thr)
n.722C>A
n.631C>A
c.24C>A
c.4219C>A (p.Pro1407Thr)
c.3904C>A (p.Pro1302Thr)
c.1801C>A (p.Pro601Thr)
c.4243C>A (p.Pro1415Thr)
c.4234C>A (p.Pro1412Thr)
c.4225C>A (p.Pro1409Thr)
c.2563C>A (p.Pro855Thr)
Xg.108686042C>GCA413853393COL4A5c.4228C>G (p.Pro1410Ala)
c.4210C>G (p.Pro1404Ala)
n.722C>G
n.631C>G
c.24C>G
c.4219C>G (p.Pro1407Ala)
c.3904C>G (p.Pro1302Ala)
c.1801C>G (p.Pro601Ala)
c.4243C>G (p.Pro1415Ala)
c.4234C>G (p.Pro1412Ala)
c.4225C>G (p.Pro1409Ala)
c.2563C>G (p.Pro855Ala)
Xg.108686042C>TCA413853384COL4A5c.4228C>T (p.Pro1410Ser)
c.4210C>T (p.Pro1404Ser)
n.722C>T
n.631C>T
c.24C>T
c.4219C>T (p.Pro1407Ser)
c.3904C>T (p.Pro1302Ser)
c.1801C>T (p.Pro601Ser)
c.4243C>T (p.Pro1415Ser)
c.4234C>T (p.Pro1412Ser)
c.4225C>T (p.Pro1409Ser)
c.2563C>T (p.Pro855Ser)
 ClinVar gnomAD v4
Xg.108686043C>ACA413853398COL4A5c.4229C>A (p.Pro1410His)
c.4211C>A (p.Pro1404His)
n.723C>A
n.632C>A
c.25C>A
c.4220C>A (p.Pro1407His)
c.3905C>A (p.Pro1302His)
c.1802C>A (p.Pro601His)
c.4244C>A (p.Pro1415His)
c.4235C>A (p.Pro1412His)
c.4226C>A (p.Pro1409His)
c.2564C>A (p.Pro855His)
Xg.108686043C>GCA413853400COL4A5c.4229C>G (p.Pro1410Arg)
c.4211C>G (p.Pro1404Arg)
n.723C>G
n.632C>G
c.25C>G
c.4220C>G (p.Pro1407Arg)
c.3905C>G (p.Pro1302Arg)
c.1802C>G (p.Pro601Arg)
c.4244C>G (p.Pro1415Arg)
c.4235C>G (p.Pro1412Arg)
c.4226C>G (p.Pro1409Arg)
c.2564C>G (p.Pro855Arg)
Xg.108686043C>TCA413853404COL4A5c.4229C>T (p.Pro1410Leu)
c.4211C>T (p.Pro1404Leu)
n.723C>T
n.632C>T
c.25C>T
c.4220C>T (p.Pro1407Leu)
c.3905C>T (p.Pro1302Leu)
c.1802C>T (p.Pro601Leu)
c.4244C>T (p.Pro1415Leu)
c.4235C>T (p.Pro1412Leu)
c.4226C>T (p.Pro1409Leu)
c.2564C>T (p.Pro855Leu)
Xg.108686044T>ACA517924039COL4A5c.4230T>A (p.Pro1410=)
c.4212T>A (p.Pro1404=)
n.724T>A
n.633T>A
c.26T>A
c.4221T>A (p.Pro1407=)
c.3906T>A (p.Pro1302=)
c.1803T>A (p.Pro601=)
c.4245T>A (p.Pro1415=)
c.4236T>A (p.Pro1412=)
c.4227T>A (p.Pro1409=)
c.2565T>A (p.Pro855=)
Xg.108686044T>CCA517924040COL4A5c.4230T>C (p.Pro1410=)
c.4212T>C (p.Pro1404=)
n.724T>C
n.633T>C
c.26T>C
c.4221T>C (p.Pro1407=)
c.3906T>C (p.Pro1302=)
c.1803T>C (p.Pro601=)
c.4245T>C (p.Pro1415=)
c.4236T>C (p.Pro1412=)
c.4227T>C (p.Pro1409=)
c.2565T>C (p.Pro855=)
Xg.108686044T>GCA517924041COL4A5c.4230T>G (p.Pro1410=)
c.4212T>G (p.Pro1404=)
n.724T>G
n.633T>G
c.26T>G
c.4221T>G (p.Pro1407=)
c.3906T>G (p.Pro1302=)
c.1803T>G (p.Pro601=)
c.4245T>G (p.Pro1415=)
c.4236T>G (p.Pro1412=)
c.4227T>G (p.Pro1409=)
c.2565T>G (p.Pro855=)
Xg.108686044T=CA2450718756COL4A5c.4230T= (p.Pro1410=)
c.4212T= (p.Pro1404=)
n.724T=
n.633T=
c.26T=
c.4221T= (p.Pro1407=)
c.3906T= (p.Pro1302=)
c.1803T= (p.Pro601=)
c.4245T= (p.Pro1415=)
c.4236T= (p.Pro1412=)
c.4227T= (p.Pro1409=)
c.2565T= (p.Pro855=)
Xg.108686045C>ACA413853408COL4A5c.4231C>A (p.Pro1411Thr)
c.4213C>A (p.Pro1405Thr)
n.725C>A
n.634C>A
c.27C>A
c.4222C>A (p.Pro1408Thr)
c.3907C>A (p.Pro1303Thr)
c.1804C>A (p.Pro602Thr)
c.4246C>A (p.Pro1416Thr)
c.4237C>A (p.Pro1413Thr)
c.4228C>A (p.Pro1410Thr)
c.2566C>A (p.Pro856Thr)
Xg.108686045C>GCA413853412COL4A5c.4231C>G (p.Pro1411Ala)
c.4213C>G (p.Pro1405Ala)
n.725C>G
n.634C>G
c.27C>G
c.4222C>G (p.Pro1408Ala)
c.3907C>G (p.Pro1303Ala)
c.1804C>G (p.Pro602Ala)
c.4246C>G (p.Pro1416Ala)
c.4237C>G (p.Pro1413Ala)
c.4228C>G (p.Pro1410Ala)
c.2566C>G (p.Pro856Ala)
Xg.108686045C>TCA413853417COL4A5c.4231C>T (p.Pro1411Ser)
c.4213C>T (p.Pro1405Ser)
n.725C>T
n.634C>T
c.27C>T
c.4222C>T (p.Pro1408Ser)
c.3907C>T (p.Pro1303Ser)
c.1804C>T (p.Pro602Ser)
c.4246C>T (p.Pro1416Ser)
c.4237C>T (p.Pro1413Ser)
c.4228C>T (p.Pro1410Ser)
c.2566C>T (p.Pro856Ser)
Xg.108686046dupCA259004COL4A5c.4232dup (p.Gly1412ArgfsTer12)
c.4214dup (p.Gly1406ArgfsTer12)
n.726dup
n.635dup
c.28dup
c.4223dup (p.Gly1409ArgfsTer12)
c.3908dup (p.Gly1304ArgfsTer12)
c.1805dup (p.Gly603ArgfsTer12)
c.4247dup (p.Gly1417ArgfsTer12)
c.4238dup (p.Gly1414ArgfsTer12)
c.4229dup (p.Gly1411ArgfsTer12)
c.2567dup (p.Gly857ArgfsTer12)
 dbSNP
Xg.108686046C>ACA413853429COL4A5c.4232C>A (p.Pro1411Gln)
c.4214C>A (p.Pro1405Gln)
n.726C>A
n.635C>A
c.28C>A
c.4223C>A (p.Pro1408Gln)
c.3908C>A (p.Pro1303Gln)
c.1805C>A (p.Pro602Gln)
c.4247C>A (p.Pro1416Gln)
c.4238C>A (p.Pro1413Gln)
c.4229C>A (p.Pro1410Gln)
c.2567C>A (p.Pro856Gln)
Xg.108686046C>GCA413853432COL4A5c.4232C>G (p.Pro1411Arg)
c.4214C>G (p.Pro1405Arg)
n.726C>G
n.635C>G
c.28C>G
c.4223C>G (p.Pro1408Arg)
c.3908C>G (p.Pro1303Arg)
c.1805C>G (p.Pro602Arg)
c.4247C>G (p.Pro1416Arg)
c.4238C>G (p.Pro1413Arg)
c.4229C>G (p.Pro1410Arg)
c.2567C>G (p.Pro856Arg)
Xg.108686046C>TCA413853434COL4A5c.4232C>T (p.Pro1411Leu)
c.4214C>T (p.Pro1405Leu)
n.726C>T
n.635C>T
c.28C>T
c.4223C>T (p.Pro1408Leu)
c.3908C>T (p.Pro1303Leu)
c.1805C>T (p.Pro602Leu)
c.4247C>T (p.Pro1416Leu)
c.4238C>T (p.Pro1413Leu)
c.4229C>T (p.Pro1410Leu)
c.2567C>T (p.Pro856Leu)
 ClinVar dbSNP
Xg.108686047A>CCA517924047COL4A5c.4233A>C (p.Pro1411=)
c.4215A>C (p.Pro1405=)
n.727A>C
n.636A>C
c.29A>C
c.4224A>C (p.Pro1408=)
c.3909A>C (p.Pro1303=)
c.1806A>C (p.Pro602=)
c.4248A>C (p.Pro1416=)
c.4239A>C (p.Pro1413=)
c.4230A>C (p.Pro1410=)
c.2568A>C (p.Pro856=)
Xg.108686047A>GCA517924048COL4A5c.4233A>G (p.Pro1411=)
c.4215A>G (p.Pro1405=)
n.727A>G
n.636A>G
c.29A>G
c.4224A>G (p.Pro1408=)
c.3909A>G (p.Pro1303=)
c.1806A>G (p.Pro602=)
c.4248A>G (p.Pro1416=)
c.4239A>G (p.Pro1413=)
c.4230A>G (p.Pro1410=)
c.2568A>G (p.Pro856=)
Xg.108686047A>TCA517924046COL4A5c.4233A>T (p.Pro1411=)
c.4215A>T (p.Pro1405=)
n.727A>T
n.636A>T
c.29A>T
c.4224A>T (p.Pro1408=)
c.3909A>T (p.Pro1303=)
c.1806A>T (p.Pro602=)
c.4248A>T (p.Pro1416=)
c.4239A>T (p.Pro1413=)
c.4230A>T (p.Pro1410=)
c.2568A>T (p.Pro856=)
Xg.108686048G>ACA413853438COL4A5c.4234G>A (p.Gly1412Arg)
c.4216G>A (p.Gly1406Arg)
n.728G>A
n.637G>A
c.30G>A
c.4225G>A (p.Gly1409Arg)
c.3910G>A (p.Gly1304Arg)
c.1807G>A (p.Gly603Arg)
c.4249G>A (p.Gly1417Arg)
c.4240G>A (p.Gly1414Arg)
c.4231G>A (p.Gly1411Arg)
c.2569G>A (p.Gly857Arg)
Xg.108686048G>CCA413853440COL4A5c.4234G>C (p.Gly1412Arg)
c.4216G>C (p.Gly1406Arg)
n.728G>C
n.637G>C
c.30G>C
c.4225G>C (p.Gly1409Arg)
c.3910G>C (p.Gly1304Arg)
c.1807G>C (p.Gly603Arg)
c.4249G>C (p.Gly1417Arg)
c.4240G>C (p.Gly1414Arg)
c.4231G>C (p.Gly1411Arg)
c.2569G>C (p.Gly857Arg)
Xg.108686048G>TCA413853442COL4A5c.4234G>T (p.Gly1412Ter)
c.4216G>T (p.Gly1406Ter)
n.728G>T
n.637G>T
c.30G>T
c.4225G>T (p.Gly1409Ter)
c.3910G>T (p.Gly1304Ter)
c.1807G>T (p.Gly603Ter)
c.4249G>T (p.Gly1417Ter)
c.4240G>T (p.Gly1414Ter)
c.4231G>T (p.Gly1411Ter)
c.2569G>T (p.Gly857Ter)
Xg.108686049G>ACA413853447COL4A5c.4235G>A (p.Gly1412Glu)
c.4217G>A (p.Gly1406Glu)
n.729G>A
n.638G>A
c.31G>A
c.4226G>A (p.Gly1409Glu)
c.3911G>A (p.Gly1304Glu)
c.1808G>A (p.Gly603Glu)
c.4250G>A (p.Gly1417Glu)
c.4241G>A (p.Gly1414Glu)
c.4232G>A (p.Gly1411Glu)
c.2570G>A (p.Gly857Glu)
Xg.108686049G>CCA413853450COL4A5c.4235G>C (p.Gly1412Ala)
c.4217G>C (p.Gly1406Ala)
n.729G>C
n.638G>C
c.31G>C
c.4226G>C (p.Gly1409Ala)
c.3911G>C (p.Gly1304Ala)
c.1808G>C (p.Gly603Ala)
c.4250G>C (p.Gly1417Ala)
c.4241G>C (p.Gly1414Ala)
c.4232G>C (p.Gly1411Ala)
c.2570G>C (p.Gly857Ala)
Xg.108686049G>TCA413853445COL4A5c.4235G>T (p.Gly1412Val)
c.4217G>T (p.Gly1406Val)
n.729G>T
n.638G>T
c.31G>T
c.4226G>T (p.Gly1409Val)
c.3911G>T (p.Gly1304Val)
c.1808G>T (p.Gly603Val)
c.4250G>T (p.Gly1417Val)
c.4241G>T (p.Gly1414Val)
c.4232G>T (p.Gly1411Val)
c.2570G>T (p.Gly857Val)
Xg.108686050A>CCA517924054COL4A5c.4236A>C (p.Gly1412=)
c.4218A>C (p.Gly1406=)
n.730A>C
n.639A>C
c.32A>C
c.4227A>C (p.Gly1409=)
c.3912A>C (p.Gly1304=)
c.1809A>C (p.Gly603=)
c.4251A>C (p.Gly1417=)
c.4242A>C (p.Gly1414=)
c.4233A>C (p.Gly1411=)
c.2571A>C (p.Gly857=)
Xg.108686050A>GCA517924055COL4A5c.4236A>G (p.Gly1412=)
c.4218A>G (p.Gly1406=)
n.730A>G
n.639A>G
c.32A>G
c.4227A>G (p.Gly1409=)
c.3912A>G (p.Gly1304=)
c.1809A>G (p.Gly603=)
c.4251A>G (p.Gly1417=)
c.4242A>G (p.Gly1414=)
c.4233A>G (p.Gly1411=)
c.2571A>G (p.Gly857=)
Xg.108686050A>TCA517924057COL4A5c.4236A>T (p.Gly1412=)
c.4218A>T (p.Gly1406=)
n.730A>T
n.639A>T
c.32A>T
c.4227A>T (p.Gly1409=)
c.3912A>T (p.Gly1304=)
c.1809A>T (p.Gly603=)
c.4251A>T (p.Gly1417=)
c.4242A>T (p.Gly1414=)
c.4233A>T (p.Gly1411=)
c.2571A>T (p.Gly857=)
Xg.108686051G>ACA413853453COL4A5c.4237G>A (p.Asp1413Asn)
c.4219G>A (p.Asp1407Asn)
n.731G>A
n.640G>A
c.33G>A
c.4228G>A (p.Asp1410Asn)
c.3913G>A (p.Asp1305Asn)
c.1810G>A (p.Asp604Asn)
c.4252G>A (p.Asp1418Asn)
c.4243G>A (p.Asp1415Asn)
c.4234G>A (p.Asp1412Asn)
c.2572G>A (p.Asp858Asn)
 COSMIC COSMIC
Xg.108686051G>CCA413853456COL4A5c.4237G>C (p.Asp1413His)
c.4219G>C (p.Asp1407His)
n.731G>C
n.640G>C
c.33G>C
c.4228G>C (p.Asp1410His)
c.3913G>C (p.Asp1305His)
c.1810G>C (p.Asp604His)
c.4252G>C (p.Asp1418His)
c.4243G>C (p.Asp1415His)
c.4234G>C (p.Asp1412His)
c.2572G>C (p.Asp858His)
Xg.108686051G>TCA413853457COL4A5c.4237G>T (p.Asp1413Tyr)
c.4219G>T (p.Asp1407Tyr)
n.731G>T
n.640G>T
c.33G>T
c.4228G>T (p.Asp1410Tyr)
c.3913G>T (p.Asp1305Tyr)
c.1810G>T (p.Asp604Tyr)
c.4252G>T (p.Asp1418Tyr)
c.4243G>T (p.Asp1415Tyr)
c.4234G>T (p.Asp1412Tyr)
c.2572G>T (p.Asp858Tyr)
Xg.108686052A>CCA413853462COL4A5c.4238A>C (p.Asp1413Ala)
c.4220A>C (p.Asp1407Ala)
n.732A>C
n.641A>C
c.34A>C
c.4229A>C (p.Asp1410Ala)
c.3914A>C (p.Asp1305Ala)
c.1811A>C (p.Asp604Ala)
c.4253A>C (p.Asp1418Ala)
c.4244A>C (p.Asp1415Ala)
c.4235A>C (p.Asp1412Ala)
c.2573A>C (p.Asp858Ala)
Xg.108686052A>GCA413853465COL4A5c.4238A>G (p.Asp1413Gly)
c.4220A>G (p.Asp1407Gly)
n.732A>G
n.641A>G
c.34A>G
c.4229A>G (p.Asp1410Gly)
c.3914A>G (p.Asp1305Gly)
c.1811A>G (p.Asp604Gly)
c.4253A>G (p.Asp1418Gly)
c.4244A>G (p.Asp1415Gly)
c.4235A>G (p.Asp1412Gly)
c.2573A>G (p.Asp858Gly)
 gnomAD v4 COSMIC
Xg.108686052A>TCA413853468COL4A5c.4238A>T (p.Asp1413Val)
c.4220A>T (p.Asp1407Val)
n.732A>T
n.641A>T
c.34A>T
c.4229A>T (p.Asp1410Val)
c.3914A>T (p.Asp1305Val)
c.1811A>T (p.Asp604Val)
c.4253A>T (p.Asp1418Val)
c.4244A>T (p.Asp1415Val)
c.4235A>T (p.Asp1412Val)
c.2573A>T (p.Asp858Val)
Xg.108686053T>ACA10489325COL4A5c.4239T>A (p.Asp1413Glu)
c.4221T>A (p.Asp1407Glu)
n.733T>A
n.642T>A
c.35T>A
c.4230T>A (p.Asp1410Glu)
c.3915T>A (p.Asp1305Glu)
c.1812T>A (p.Asp604Glu)
c.4254T>A (p.Asp1418Glu)
c.4245T>A (p.Asp1415Glu)
c.4236T>A (p.Asp1412Glu)
c.2574T>A (p.Asp858Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686053T>CCA517924059COL4A5c.4239T>C (p.Asp1413=)
c.4221T>C (p.Asp1407=)
n.733T>C
n.642T>C
c.35T>C
c.4230T>C (p.Asp1410=)
c.3915T>C (p.Asp1305=)
c.1812T>C (p.Asp604=)
c.4254T>C (p.Asp1418=)
c.4245T>C (p.Asp1415=)
c.4236T>C (p.Asp1412=)
c.2574T>C (p.Asp858=)
Xg.108686053T>GCA413853472COL4A5c.4239T>G (p.Asp1413Glu)
c.4221T>G (p.Asp1407Glu)
n.733T>G
n.642T>G
c.35T>G
c.4230T>G (p.Asp1410Glu)
c.3915T>G (p.Asp1305Glu)
c.1812T>G (p.Asp604Glu)
c.4254T>G (p.Asp1418Glu)
c.4245T>G (p.Asp1415Glu)
c.4236T>G (p.Asp1412Glu)
c.2574T>G (p.Asp858Glu)
Xg.108686053T=CA2450718757COL4A5c.4239T= (p.Asp1413=)
c.4221T= (p.Asp1407=)
n.733T=
n.642T=
c.35T=
c.4230T= (p.Asp1410=)
c.3915T= (p.Asp1305=)
c.1812T= (p.Asp604=)
c.4254T= (p.Asp1418=)
c.4245T= (p.Asp1415=)
c.4236T= (p.Asp1412=)
c.2574T= (p.Asp858=)
Xg.108686054C>ACA413853475COL4A5c.4240C>A (p.Pro1414Thr)
c.4222C>A (p.Pro1408Thr)
n.734C>A
n.643C>A
c.36C>A
c.4231C>A (p.Pro1411Thr)
c.3916C>A (p.Pro1306Thr)
c.1813C>A (p.Pro605Thr)
c.4255C>A (p.Pro1419Thr)
c.4246C>A (p.Pro1416Thr)
c.4237C>A (p.Pro1413Thr)
c.2575C>A (p.Pro859Thr)
Xg.108686054C>GCA413853476COL4A5c.4240C>G (p.Pro1414Ala)
c.4222C>G (p.Pro1408Ala)
n.734C>G
n.643C>G
c.36C>G
c.4231C>G (p.Pro1411Ala)
c.3916C>G (p.Pro1306Ala)
c.1813C>G (p.Pro605Ala)
c.4255C>G (p.Pro1419Ala)
c.4246C>G (p.Pro1416Ala)
c.4237C>G (p.Pro1413Ala)
c.2575C>G (p.Pro859Ala)
Xg.108686054C>TCA413853478COL4A5c.4240C>T (p.Pro1414Ser)
c.4222C>T (p.Pro1408Ser)
n.734C>T
n.643C>T
c.36C>T
c.4231C>T (p.Pro1411Ser)
c.3916C>T (p.Pro1306Ser)
c.1813C>T (p.Pro605Ser)
c.4255C>T (p.Pro1419Ser)
c.4246C>T (p.Pro1416Ser)
c.4237C>T (p.Pro1413Ser)
c.2575C>T (p.Pro859Ser)
Xg.108686055C>ACA413853479COL4A5c.4241C>A (p.Pro1414His)
c.4223C>A (p.Pro1408His)
n.735C>A
n.644C>A
c.37C>A
c.4232C>A (p.Pro1411His)
c.3917C>A (p.Pro1306His)
c.1814C>A (p.Pro605His)
c.4256C>A (p.Pro1419His)
c.4247C>A (p.Pro1416His)
c.4238C>A (p.Pro1413His)
c.2576C>A (p.Pro859His)
Xg.108686055C>GCA413853482COL4A5c.4241C>G (p.Pro1414Arg)
c.4223C>G (p.Pro1408Arg)
n.735C>G
n.644C>G
c.37C>G
c.4232C>G (p.Pro1411Arg)
c.3917C>G (p.Pro1306Arg)
c.1814C>G (p.Pro605Arg)
c.4256C>G (p.Pro1419Arg)
c.4247C>G (p.Pro1416Arg)
c.4238C>G (p.Pro1413Arg)
c.2576C>G (p.Pro859Arg)
Xg.108686055C>TCA413853484COL4A5c.4241C>T (p.Pro1414Leu)
c.4223C>T (p.Pro1408Leu)
n.735C>T
n.644C>T
c.37C>T
c.4232C>T (p.Pro1411Leu)
c.3917C>T (p.Pro1306Leu)
c.1814C>T (p.Pro605Leu)
c.4256C>T (p.Pro1419Leu)
c.4247C>T (p.Pro1416Leu)
c.4238C>T (p.Pro1413Leu)
c.2576C>T (p.Pro859Leu)
Xg.108686056T>ACA517924064COL4A5c.4242T>A (p.Pro1414=)
c.4224T>A (p.Pro1408=)
n.736T>A
n.645T>A
c.38T>A
c.4233T>A (p.Pro1411=)
c.3918T>A (p.Pro1306=)
c.1815T>A (p.Pro605=)
c.4257T>A (p.Pro1419=)
c.4248T>A (p.Pro1416=)
c.4239T>A (p.Pro1413=)
c.2577T>A (p.Pro859=)
Xg.108686056T>CCA517924066COL4A5c.4242T>C (p.Pro1414=)
c.4224T>C (p.Pro1408=)
n.736T>C
n.645T>C
c.38T>C
c.4233T>C (p.Pro1411=)
c.3918T>C (p.Pro1306=)
c.1815T>C (p.Pro605=)
c.4257T>C (p.Pro1419=)
c.4248T>C (p.Pro1416=)
c.4239T>C (p.Pro1413=)
c.2577T>C (p.Pro859=)
Xg.108686056T>GCA517924068COL4A5c.4242T>G (p.Pro1414=)
c.4224T>G (p.Pro1408=)
n.736T>G
n.645T>G
c.38T>G
c.4233T>G (p.Pro1411=)
c.3918T>G (p.Pro1306=)
c.1815T>G (p.Pro605=)
c.4257T>G (p.Pro1419=)
c.4248T>G (p.Pro1416=)
c.4239T>G (p.Pro1413=)
c.2577T>G (p.Pro859=)
Xg.108686057G>ACA413853486COL4A5c.4243G>A (p.Gly1415Arg)
c.4225G>A (p.Gly1409Arg)
n.737G>A
n.646G>A
c.39G>A
c.4234G>A (p.Gly1412Arg)
c.3919G>A (p.Gly1307Arg)
c.1816G>A (p.Gly606Arg)
c.4258G>A (p.Gly1420Arg)
c.4249G>A (p.Gly1417Arg)
c.4240G>A (p.Gly1414Arg)
c.2578G>A (p.Gly860Arg)
Xg.108686057G>CCA413853490COL4A5c.4243G>C (p.Gly1415Arg)
c.4225G>C (p.Gly1409Arg)
n.737G>C
n.646G>C
c.39G>C
c.4234G>C (p.Gly1412Arg)
c.3919G>C (p.Gly1307Arg)
c.1816G>C (p.Gly606Arg)
c.4258G>C (p.Gly1420Arg)
c.4249G>C (p.Gly1417Arg)
c.4240G>C (p.Gly1414Arg)
c.2578G>C (p.Gly860Arg)
Xg.108686057G>TCA413853488COL4A5c.4243G>T (p.Gly1415Ter)
c.4225G>T (p.Gly1409Ter)
n.737G>T
n.646G>T
c.39G>T
c.4234G>T (p.Gly1412Ter)
c.3919G>T (p.Gly1307Ter)
c.1816G>T (p.Gly606Ter)
c.4258G>T (p.Gly1420Ter)
c.4249G>T (p.Gly1417Ter)
c.4240G>T (p.Gly1414Ter)
c.2578G>T (p.Gly860Ter)
Xg.108686058delCA2579677125COL4A5c.4244del (p.Gly1415AspfsTer?)
c.4226del (p.Gly1409AspfsTer?)
n.738del
n.647del
c.40del
c.4235del (p.Gly1412AspfsTer?)
c.3920del (p.Gly1307AspfsTer?)
c.1817del (p.Gly606AspfsTer?)
c.4259del (p.Gly1420AspfsTer?)
c.4250del (p.Gly1417AspfsTer?)
c.4241del (p.Gly1414AspfsTer?)
c.2579del (p.Gly860AspfsTer?)
Xg.108686058G>ACA413853494COL4A5c.4244G>A (p.Gly1415Glu)
c.4226G>A (p.Gly1409Glu)
n.738G>A
n.647G>A
c.40G>A
c.4235G>A (p.Gly1412Glu)
c.3920G>A (p.Gly1307Glu)
c.1817G>A (p.Gly606Glu)
c.4259G>A (p.Gly1420Glu)
c.4250G>A (p.Gly1417Glu)
c.4241G>A (p.Gly1414Glu)
c.2579G>A (p.Gly860Glu)
Xg.108686058G>CCA413853498COL4A5c.4244G>C (p.Gly1415Ala)
c.4226G>C (p.Gly1409Ala)
n.738G>C
n.647G>C
c.40G>C
c.4235G>C (p.Gly1412Ala)
c.3920G>C (p.Gly1307Ala)
c.1817G>C (p.Gly606Ala)
c.4259G>C (p.Gly1420Ala)
c.4250G>C (p.Gly1417Ala)
c.4241G>C (p.Gly1414Ala)
c.2579G>C (p.Gly860Ala)
Xg.108686058G>TCA413853496COL4A5c.4244G>T (p.Gly1415Val)
c.4226G>T (p.Gly1409Val)
n.738G>T
n.647G>T
c.40G>T
c.4235G>T (p.Gly1412Val)
c.3920G>T (p.Gly1307Val)
c.1817G>T (p.Gly606Val)
c.4259G>T (p.Gly1420Val)
c.4250G>T (p.Gly1417Val)
c.4241G>T (p.Gly1414Val)
c.2579G>T (p.Gly860Val)
 gnomAD v4
Xg.108686059A>CCA517924071COL4A5c.4245A>C (p.Gly1415=)
c.4227A>C (p.Gly1409=)
n.739A>C
n.648A>C
c.41A>C
c.4236A>C (p.Gly1412=)
c.3921A>C (p.Gly1307=)
c.1818A>C (p.Gly606=)
c.4260A>C (p.Gly1420=)
c.4251A>C (p.Gly1417=)
c.4242A>C (p.Gly1414=)
c.2580A>C (p.Gly860=)
 ClinVar dbSNP
Xg.108686059A>GCA517924072COL4A5c.4245A>G (p.Gly1415=)
c.4227A>G (p.Gly1409=)
n.739A>G
n.648A>G
c.41A>G
c.4236A>G (p.Gly1412=)
c.3921A>G (p.Gly1307=)
c.1818A>G (p.Gly606=)
c.4260A>G (p.Gly1420=)
c.4251A>G (p.Gly1417=)
c.4242A>G (p.Gly1414=)
c.2580A>G (p.Gly860=)
Xg.108686059A>TCA517924073COL4A5c.4245A>T (p.Gly1415=)
c.4227A>T (p.Gly1409=)
n.739A>T
n.648A>T
c.41A>T
c.4236A>T (p.Gly1412=)
c.3921A>T (p.Gly1307=)
c.1818A>T (p.Gly606=)
c.4260A>T (p.Gly1420=)
c.4251A>T (p.Gly1417=)
c.4242A>T (p.Gly1414=)
c.2580A>T (p.Gly860=)
Xg.108686060C>ACA413853502COL4A5c.4246C>A (p.Arg1416Ser)
c.4228C>A (p.Arg1410Ser)
n.740C>A
n.649C>A
c.42C>A
c.4237C>A (p.Arg1413Ser)
c.3922C>A (p.Arg1308Ser)
c.1819C>A (p.Arg607Ser)
c.4261C>A (p.Arg1421Ser)
c.4252C>A (p.Arg1418Ser)
c.4243C>A (p.Arg1415Ser)
c.2581C>A (p.Arg861Ser)
 gnomAD v4
Xg.108686060C=CA2450718758COL4A5c.4246C= (p.Arg1416=)
c.4228C= (p.Arg1410=)
n.740C=
n.649C=
c.42C=
c.4237C= (p.Arg1413=)
c.3922C= (p.Arg1308=)
c.1819C= (p.Arg607=)
c.4261C= (p.Arg1421=)
c.4252C= (p.Arg1418=)
c.4243C= (p.Arg1415=)
c.2581C= (p.Arg861=)
Xg.108686060C>GCA413853503COL4A5c.4246C>G (p.Arg1416Gly)
c.4228C>G (p.Arg1410Gly)
n.740C>G
n.649C>G
c.42C>G
c.4237C>G (p.Arg1413Gly)
c.3922C>G (p.Arg1308Gly)
c.1819C>G (p.Arg607Gly)
c.4261C>G (p.Arg1421Gly)
c.4252C>G (p.Arg1418Gly)
c.4243C>G (p.Arg1415Gly)
c.2581C>G (p.Arg861Gly)
Xg.108686060C>TCA259005COL4A5c.4246C>T (p.Arg1416Cys)
c.4228C>T (p.Arg1410Cys)
n.740C>T
n.649C>T
c.42C>T
c.4237C>T (p.Arg1413Cys)
c.3922C>T (p.Arg1308Cys)
c.1819C>T (p.Arg607Cys)
c.4261C>T (p.Arg1421Cys)
c.4252C>T (p.Arg1418Cys)
c.4243C>T (p.Arg1415Cys)
c.2581C>T (p.Arg861Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686061G>ACA10489326COL4A5c.4247G>A (p.Arg1416His)
c.4229G>A (p.Arg1410His)
n.741G>A
n.650G>A
c.43G>A
c.4238G>A (p.Arg1413His)
c.3923G>A (p.Arg1308His)
c.1820G>A (p.Arg607His)
c.4262G>A (p.Arg1421His)
c.4253G>A (p.Arg1418His)
c.4244G>A (p.Arg1415His)
c.2582G>A (p.Arg861His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686061G>CCA413853506COL4A5c.4247G>C (p.Arg1416Pro)
c.4229G>C (p.Arg1410Pro)
n.741G>C
n.650G>C
c.43G>C
c.4238G>C (p.Arg1413Pro)
c.3923G>C (p.Arg1308Pro)
c.1820G>C (p.Arg607Pro)
c.4262G>C (p.Arg1421Pro)
c.4253G>C (p.Arg1418Pro)
c.4244G>C (p.Arg1415Pro)
c.2582G>C (p.Arg861Pro)
Xg.108686061G=CA2450718759COL4A5c.4247G= (p.Arg1416=)
c.4229G= (p.Arg1410=)
n.741G=
n.650G=
c.43G=
c.4238G= (p.Arg1413=)
c.3923G= (p.Arg1308=)
c.1820G= (p.Arg607=)
c.4262G= (p.Arg1421=)
c.4253G= (p.Arg1418=)
c.4244G= (p.Arg1415=)
c.2582G= (p.Arg861=)
Xg.108686061G>TCA413853507COL4A5c.4247G>T (p.Arg1416Leu)
c.4229G>T (p.Arg1410Leu)
n.741G>T
n.650G>T
c.43G>T
c.4238G>T (p.Arg1413Leu)
c.3923G>T (p.Arg1308Leu)
c.1820G>T (p.Arg607Leu)
c.4262G>T (p.Arg1421Leu)
c.4253G>T (p.Arg1418Leu)
c.4244G>T (p.Arg1415Leu)
c.2582G>T (p.Arg861Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686062C>ACA517924079COL4A5c.4248C>A (p.Arg1416=)
c.4230C>A (p.Arg1410=)
n.742C>A
n.651C>A
c.44C>A
c.4239C>A (p.Arg1413=)
c.3924C>A (p.Arg1308=)
c.1821C>A (p.Arg607=)
c.4263C>A (p.Arg1421=)
c.4254C>A (p.Arg1418=)
c.4245C>A (p.Arg1415=)
c.2583C>A (p.Arg861=)
Xg.108686062C=CA2450718760COL4A5c.4248C= (p.Arg1416=)
c.4230C= (p.Arg1410=)
n.742C=
n.651C=
c.44C=
c.4239C= (p.Arg1413=)
c.3924C= (p.Arg1308=)
c.1821C= (p.Arg607=)
c.4263C= (p.Arg1421=)
c.4254C= (p.Arg1418=)
c.4245C= (p.Arg1415=)
c.2583C= (p.Arg861=)
Xg.108686062C>GCA517924081COL4A5c.4248C>G (p.Arg1416=)
c.4230C>G (p.Arg1410=)
n.742C>G
n.651C>G
c.44C>G
c.4239C>G (p.Arg1413=)
c.3924C>G (p.Arg1308=)
c.1821C>G (p.Arg607=)
c.4263C>G (p.Arg1421=)
c.4254C>G (p.Arg1418=)
c.4245C>G (p.Arg1415=)
c.2583C>G (p.Arg861=)
 gnomAD v4
Xg.108686062C>TCA517924082COL4A5c.4248C>T (p.Arg1416=)
c.4230C>T (p.Arg1410=)
n.742C>T
n.651C>T
c.44C>T
c.4239C>T (p.Arg1413=)
c.3924C>T (p.Arg1308=)
c.1821C>T (p.Arg607=)
c.4263C>T (p.Arg1421=)
c.4254C>T (p.Arg1418=)
c.4245C>T (p.Arg1415=)
c.2583C>T (p.Arg861=)
 ClinVar dbSNP
Xg.108686063A>CCA413853513COL4A5c.4249A>C (p.Asn1417His)
c.4231A>C (p.Asn1411His)
n.743A>C
n.652A>C
c.45A>C
c.4240A>C (p.Asn1414His)
c.3925A>C (p.Asn1309His)
c.1822A>C (p.Asn608His)
c.4264A>C (p.Asn1422His)
c.4255A>C (p.Asn1419His)
c.4246A>C (p.Asn1416His)
c.2584A>C (p.Asn862His)
Xg.108686063A>GCA413853509COL4A5c.4249A>G (p.Asn1417Asp)
c.4231A>G (p.Asn1411Asp)
n.743A>G
n.652A>G
c.45A>G
c.4240A>G (p.Asn1414Asp)
c.3925A>G (p.Asn1309Asp)
c.1822A>G (p.Asn608Asp)
c.4264A>G (p.Asn1422Asp)
c.4255A>G (p.Asn1419Asp)
c.4246A>G (p.Asn1416Asp)
c.2584A>G (p.Asn862Asp)
 gnomAD v4
Xg.108686063A>TCA413853511COL4A5c.4249A>T (p.Asn1417Tyr)
c.4231A>T (p.Asn1411Tyr)
n.743A>T
n.652A>T
c.45A>T
c.4240A>T (p.Asn1414Tyr)
c.3925A>T (p.Asn1309Tyr)
c.1822A>T (p.Asn608Tyr)
c.4264A>T (p.Asn1422Tyr)
c.4255A>T (p.Asn1419Tyr)
c.4246A>T (p.Asn1416Tyr)
c.2584A>T (p.Asn862Tyr)
Xg.108686064A>CCA413853517COL4A5c.4250A>C (p.Asn1417Thr)
c.4232A>C (p.Asn1411Thr)
n.744A>C
n.653A>C
c.46A>C
c.4241A>C (p.Asn1414Thr)
c.3926A>C (p.Asn1309Thr)
c.1823A>C (p.Asn608Thr)
c.4265A>C (p.Asn1422Thr)
c.4256A>C (p.Asn1419Thr)
c.4247A>C (p.Asn1416Thr)
c.2585A>C (p.Asn862Thr)
Xg.108686064A>GCA413853519COL4A5c.4250A>G (p.Asn1417Ser)
c.4232A>G (p.Asn1411Ser)
n.744A>G
n.653A>G
c.46A>G
c.4241A>G (p.Asn1414Ser)
c.3926A>G (p.Asn1309Ser)
c.1823A>G (p.Asn608Ser)
c.4265A>G (p.Asn1422Ser)
c.4256A>G (p.Asn1419Ser)
c.4247A>G (p.Asn1416Ser)
c.2585A>G (p.Asn862Ser)
 gnomAD v4
Xg.108686064A>TCA413853522COL4A5c.4250A>T (p.Asn1417Ile)
c.4232A>T (p.Asn1411Ile)
n.744A>T
n.653A>T
c.46A>T
c.4241A>T (p.Asn1414Ile)
c.3926A>T (p.Asn1309Ile)
c.1823A>T (p.Asn608Ile)
c.4265A>T (p.Asn1422Ile)
c.4256A>T (p.Asn1419Ile)
c.4247A>T (p.Asn1416Ile)
c.2585A>T (p.Asn862Ile)
Xg.108686065T>ACA413853525COL4A5c.4251T>A (p.Asn1417Lys)
c.4233T>A (p.Asn1411Lys)
n.745T>A
n.654T>A
c.47T>A
c.4242T>A (p.Asn1414Lys)
c.3927T>A (p.Asn1309Lys)
c.1824T>A (p.Asn608Lys)
c.4266T>A (p.Asn1422Lys)
c.4257T>A (p.Asn1419Lys)
c.4248T>A (p.Asn1416Lys)
c.2586T>A (p.Asn862Lys)
Xg.108686065T>CCA517924088COL4A5c.4251T>C (p.Asn1417=)
c.4233T>C (p.Asn1411=)
n.745T>C
n.654T>C
c.47T>C
c.4242T>C (p.Asn1414=)
c.3927T>C (p.Asn1309=)
c.1824T>C (p.Asn608=)
c.4266T>C (p.Asn1422=)
c.4257T>C (p.Asn1419=)
c.4248T>C (p.Asn1416=)
c.2586T>C (p.Asn862=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108686065T>GCA413853526COL4A5c.4251T>G (p.Asn1417Lys)
c.4233T>G (p.Asn1411Lys)
n.745T>G
n.654T>G
c.47T>G
c.4242T>G (p.Asn1414Lys)
c.3927T>G (p.Asn1309Lys)
c.1824T>G (p.Asn608Lys)
c.4266T>G (p.Asn1422Lys)
c.4257T>G (p.Asn1419Lys)
c.4248T>G (p.Asn1416Lys)
c.2586T>G (p.Asn862Lys)
Xg.108686065T=CA2450718762COL4A5c.4251T= (p.Asn1417=)
c.4233T= (p.Asn1411=)
n.745T=
n.654T=
c.47T=
c.4242T= (p.Asn1414=)
c.3927T= (p.Asn1309=)
c.1824T= (p.Asn608=)
c.4266T= (p.Asn1422=)
c.4257T= (p.Asn1419=)
c.4248T= (p.Asn1416=)
c.2586T= (p.Asn862=)
Xg.108686065_108686066delinsTGCA2450718761COL4A5c.4251_4252delinsTG (p.Asn1417=)
c.4233_4234delinsTG (p.Asn1411=)
n.745_746delinsTG
n.654_655delinsTG
c.47_48delinsTG
c.4242_4243delinsTG (p.Asn1414=)
c.3927_3928delinsTG (p.Asn1309=)
c.1824_1825delinsTG (p.Asn608=)
c.4266_4267delinsTG (p.Asn1422=)
c.4257_4258delinsTG (p.Asn1419=)
c.4248_4249delinsTG (p.Asn1416=)
c.2586_2587delinsTG (p.Asn862=)
Xg.108686066G>ACA413853535COL4A5c.4252G>A (p.Gly1418Arg)
c.4234G>A (p.Gly1412Arg)
n.746G>A
n.655G>A
c.48G>A
c.4243G>A (p.Gly1415Arg)
c.3928G>A (p.Gly1310Arg)
c.1825G>A (p.Gly609Arg)
c.4267G>A (p.Gly1423Arg)
c.4258G>A (p.Gly1420Arg)
c.4249G>A (p.Gly1417Arg)
c.2587G>A (p.Gly863Arg)
 COSMIC
Xg.108686066G>CCA413853532COL4A5c.4252G>C (p.Gly1418Arg)
c.4234G>C (p.Gly1412Arg)
n.746G>C
n.655G>C
c.48G>C
c.4243G>C (p.Gly1415Arg)
c.3928G>C (p.Gly1310Arg)
c.1825G>C (p.Gly609Arg)
c.4267G>C (p.Gly1423Arg)
c.4258G>C (p.Gly1420Arg)
c.4249G>C (p.Gly1417Arg)
c.2587G>C (p.Gly863Arg)
Xg.108686066G>TCA413853529COL4A5c.4252G>T (p.Gly1418Ter)
c.4234G>T (p.Gly1412Ter)
n.746G>T
n.655G>T
c.48G>T
c.4243G>T (p.Gly1415Ter)
c.3928G>T (p.Gly1310Ter)
c.1825G>T (p.Gly609Ter)
c.4267G>T (p.Gly1423Ter)
c.4258G>T (p.Gly1420Ter)
c.4249G>T (p.Gly1417Ter)
c.2587G>T (p.Gly863Ter)
Xg.108686067delCA261092COL4A5c.4253del (p.Gly1418AspfsTer?)
c.4235del (p.Gly1412AspfsTer?)
n.747del
n.656del
c.49del
c.4244del (p.Gly1415AspfsTer?)
c.3929del (p.Gly1310AspfsTer?)
c.1826del (p.Gly609AspfsTer?)
c.4268del (p.Gly1423AspfsTer?)
c.4259del (p.Gly1420AspfsTer?)
c.4250del (p.Gly1417AspfsTer?)
c.2588del (p.Gly863AspfsTer?)
 dbSNP
Xg.108686067G>ACA413853538COL4A5c.4253G>A (p.Gly1418Glu)
c.4235G>A (p.Gly1412Glu)
n.747G>A
n.656G>A
c.49G>A
c.4244G>A (p.Gly1415Glu)
c.3929G>A (p.Gly1310Glu)
c.1826G>A (p.Gly609Glu)
c.4268G>A (p.Gly1423Glu)
c.4259G>A (p.Gly1420Glu)
c.4250G>A (p.Gly1417Glu)
c.2588G>A (p.Gly863Glu)
Xg.108686067G>CCA413853545COL4A5c.4253G>C (p.Gly1418Ala)
c.4235G>C (p.Gly1412Ala)
n.747G>C
n.656G>C
c.49G>C
c.4244G>C (p.Gly1415Ala)
c.3929G>C (p.Gly1310Ala)
c.1826G>C (p.Gly609Ala)
c.4268G>C (p.Gly1423Ala)
c.4259G>C (p.Gly1420Ala)
c.4250G>C (p.Gly1417Ala)
c.2588G>C (p.Gly863Ala)
Xg.108686067G>TCA413853548COL4A5c.4253G>T (p.Gly1418Val)
c.4235G>T (p.Gly1412Val)
n.747G>T
n.656G>T
c.49G>T
c.4244G>T (p.Gly1415Val)
c.3929G>T (p.Gly1310Val)
c.1826G>T (p.Gly609Val)
c.4268G>T (p.Gly1423Val)
c.4259G>T (p.Gly1420Val)
c.4250G>T (p.Gly1417Val)
c.2588G>T (p.Gly863Val)
 COSMIC COSMIC
Xg.108686068A>CCA517924094COL4A5c.4254A>C (p.Gly1418=)
c.4236A>C (p.Gly1412=)
n.748A>C
n.657A>C
c.50A>C
c.4245A>C (p.Gly1415=)
c.3930A>C (p.Gly1310=)
c.1827A>C (p.Gly609=)
c.4269A>C (p.Gly1423=)
c.4260A>C (p.Gly1420=)
c.4251A>C (p.Gly1417=)
c.2589A>C (p.Gly863=)
Xg.108686068A>GCA517924095COL4A5c.4254A>G (p.Gly1418=)
c.4236A>G (p.Gly1412=)
n.748A>G
n.657A>G
c.50A>G
c.4245A>G (p.Gly1415=)
c.3930A>G (p.Gly1310=)
c.1827A>G (p.Gly609=)
c.4269A>G (p.Gly1423=)
c.4260A>G (p.Gly1420=)
c.4251A>G (p.Gly1417=)
c.2589A>G (p.Gly863=)
Xg.108686068A>TCA517924096COL4A5c.4254A>T (p.Gly1418=)
c.4236A>T (p.Gly1412=)
n.748A>T
n.657A>T
c.50A>T
c.4245A>T (p.Gly1415=)
c.3930A>T (p.Gly1310=)
c.1827A>T (p.Gly609=)
c.4269A>T (p.Gly1423=)
c.4260A>T (p.Gly1420=)
c.4251A>T (p.Gly1417=)
c.2589A>T (p.Gly863=)
Xg.108686069C>ACA413853552COL4A5c.4255C>A (p.Leu1419Ile)
c.4237C>A (p.Leu1413Ile)
n.749C>A
n.658C>A
c.51C>A
c.4246C>A (p.Leu1416Ile)
c.3931C>A (p.Leu1311Ile)
c.1828C>A (p.Leu610Ile)
c.4270C>A (p.Leu1424Ile)
c.4261C>A (p.Leu1421Ile)
c.4252C>A (p.Leu1418Ile)
c.2590C>A (p.Leu864Ile)
Xg.108686069C=CA2450718763COL4A5c.4255C= (p.Leu1419=)
c.4237C= (p.Leu1413=)
n.749C=
n.658C=
c.51C=
c.4246C= (p.Leu1416=)
c.3931C= (p.Leu1311=)
c.1828C= (p.Leu610=)
c.4270C= (p.Leu1424=)
c.4261C= (p.Leu1421=)
c.4252C= (p.Leu1418=)
c.2590C= (p.Leu864=)
Xg.108686069C>GCA413853555COL4A5c.4255C>G (p.Leu1419Val)
c.4237C>G (p.Leu1413Val)
n.749C>G
n.658C>G
c.51C>G
c.4246C>G (p.Leu1416Val)
c.3931C>G (p.Leu1311Val)
c.1828C>G (p.Leu610Val)
c.4270C>G (p.Leu1424Val)
c.4261C>G (p.Leu1421Val)
c.4252C>G (p.Leu1418Val)
c.2590C>G (p.Leu864Val)
Xg.108686069C>TCA413853557COL4A5c.4255C>T (p.Leu1419Phe)
c.4237C>T (p.Leu1413Phe)
n.749C>T
n.658C>T
c.51C>T
c.4246C>T (p.Leu1416Phe)
c.3931C>T (p.Leu1311Phe)
c.1828C>T (p.Leu610Phe)
c.4270C>T (p.Leu1424Phe)
c.4261C>T (p.Leu1421Phe)
c.4252C>T (p.Leu1418Phe)
c.2590C>T (p.Leu864Phe)
 dbSNP gnomAD v3 gnomAD v4
Xg.108686070T>ACA413853560COL4A5c.4256T>A (p.Leu1419His)
c.4238T>A (p.Leu1413His)
n.750T>A
n.659T>A
c.52T>A
c.4247T>A (p.Leu1416His)
c.3932T>A (p.Leu1311His)
c.1829T>A (p.Leu610His)
c.4271T>A (p.Leu1424His)
c.4262T>A (p.Leu1421His)
c.4253T>A (p.Leu1418His)
c.2591T>A (p.Leu864His)
Xg.108686070T>CCA413853566COL4A5c.4256T>C (p.Leu1419Pro)
c.4238T>C (p.Leu1413Pro)
n.750T>C
n.659T>C
c.52T>C
c.4247T>C (p.Leu1416Pro)
c.3932T>C (p.Leu1311Pro)
c.1829T>C (p.Leu610Pro)
c.4271T>C (p.Leu1424Pro)
c.4262T>C (p.Leu1421Pro)
c.4253T>C (p.Leu1418Pro)
c.2591T>C (p.Leu864Pro)
Xg.108686070T>GCA413853563COL4A5c.4256T>G (p.Leu1419Arg)
c.4238T>G (p.Leu1413Arg)
n.750T>G
n.659T>G
c.52T>G
c.4247T>G (p.Leu1416Arg)
c.3932T>G (p.Leu1311Arg)
c.1829T>G (p.Leu610Arg)
c.4271T>G (p.Leu1424Arg)
c.4262T>G (p.Leu1421Arg)
c.4253T>G (p.Leu1418Arg)
c.2591T>G (p.Leu864Arg)
Xg.108686071C>ACA517924101COL4A5c.4257C>A (p.Leu1419=)
c.4239C>A (p.Leu1413=)
n.751C>A
n.660C>A
c.53C>A
c.4248C>A (p.Leu1416=)
c.3933C>A (p.Leu1311=)
c.1830C>A (p.Leu610=)
c.4272C>A (p.Leu1424=)
c.4263C>A (p.Leu1421=)
c.4254C>A (p.Leu1418=)
c.2592C>A (p.Leu864=)
Xg.108686071C=CA2450718764COL4A5c.4257C= (p.Leu1419=)
c.4239C= (p.Leu1413=)
n.751C=
n.660C=
c.53C=
c.4248C= (p.Leu1416=)
c.3933C= (p.Leu1311=)
c.1830C= (p.Leu610=)
c.4272C= (p.Leu1424=)
c.4263C= (p.Leu1421=)
c.4254C= (p.Leu1418=)
c.2592C= (p.Leu864=)
Xg.108686071C>GCA517924102COL4A5c.4257C>G (p.Leu1419=)
c.4239C>G (p.Leu1413=)
n.751C>G
n.660C>G
c.53C>G
c.4248C>G (p.Leu1416=)
c.3933C>G (p.Leu1311=)
c.1830C>G (p.Leu610=)
c.4272C>G (p.Leu1424=)
c.4263C>G (p.Leu1421=)
c.4254C>G (p.Leu1418=)
c.2592C>G (p.Leu864=)
Xg.108686071C>TCA259007COL4A5c.4257C>T (p.Leu1419=)
c.4239C>T (p.Leu1413=)
n.751C>T
n.660C>T
c.53C>T
c.4248C>T (p.Leu1416=)
c.3933C>T (p.Leu1311=)
c.1830C>T (p.Leu610=)
c.4272C>T (p.Leu1424=)
c.4263C>T (p.Leu1421=)
c.4254C>T (p.Leu1418=)
c.2592C>T (p.Leu864=)
 dbSNP
Xg.108686072C>ACA413853571COL4A5c.4258C>A (p.Pro1420Thr)
c.4240C>A (p.Pro1414Thr)
n.752C>A
n.661C>A
c.54C>A
c.4249C>A (p.Pro1417Thr)
c.3934C>A (p.Pro1312Thr)
c.1831C>A (p.Pro611Thr)
c.4273C>A (p.Pro1425Thr)
c.4264C>A (p.Pro1422Thr)
c.4255C>A (p.Pro1419Thr)
c.2593C>A (p.Pro865Thr)
Xg.108686072C=CA2450718765COL4A5c.4258C= (p.Pro1420=)
c.4240C= (p.Pro1414=)
n.752C=
n.661C=
c.54C=
c.4249C= (p.Pro1417=)
c.3934C= (p.Pro1312=)
c.1831C= (p.Pro611=)
c.4273C= (p.Pro1425=)
c.4264C= (p.Pro1422=)
c.4255C= (p.Pro1419=)
c.2593C= (p.Pro865=)
Xg.108686072C>GCA413853574COL4A5c.4258C>G (p.Pro1420Ala)
c.4240C>G (p.Pro1414Ala)
n.752C>G
n.661C>G
c.54C>G
c.4249C>G (p.Pro1417Ala)
c.3934C>G (p.Pro1312Ala)
c.1831C>G (p.Pro611Ala)
c.4273C>G (p.Pro1425Ala)
c.4264C>G (p.Pro1422Ala)
c.4255C>G (p.Pro1419Ala)
c.2593C>G (p.Pro865Ala)
 ClinVar
Xg.108686072C>TCA413853575COL4A5c.4258C>T (p.Pro1420Ser)
c.4240C>T (p.Pro1414Ser)
n.752C>T
n.661C>T
c.54C>T
c.4249C>T (p.Pro1417Ser)
c.3934C>T (p.Pro1312Ser)
c.1831C>T (p.Pro611Ser)
c.4273C>T (p.Pro1425Ser)
c.4264C>T (p.Pro1422Ser)
c.4255C>T (p.Pro1419Ser)
c.2593C>T (p.Pro865Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108686073C>ACA413853579COL4A5c.4259C>A (p.Pro1420His)
c.4241C>A (p.Pro1414His)
n.753C>A
n.662C>A
c.55C>A
c.4250C>A (p.Pro1417His)
c.3935C>A (p.Pro1312His)
c.1832C>A (p.Pro611His)
c.4274C>A (p.Pro1425His)
c.4265C>A (p.Pro1422His)
c.4256C>A (p.Pro1419His)
c.2594C>A (p.Pro865His)
Xg.108686073C>GCA413853584COL4A5c.4259C>G (p.Pro1420Arg)
c.4241C>G (p.Pro1414Arg)
n.753C>G
n.662C>G
c.55C>G
c.4250C>G (p.Pro1417Arg)
c.3935C>G (p.Pro1312Arg)
c.1832C>G (p.Pro611Arg)
c.4274C>G (p.Pro1425Arg)
c.4265C>G (p.Pro1422Arg)
c.4256C>G (p.Pro1419Arg)
c.2594C>G (p.Pro865Arg)
Xg.108686073C>TCA413853582COL4A5c.4259C>T (p.Pro1420Leu)
c.4241C>T (p.Pro1414Leu)
n.753C>T
n.662C>T
c.55C>T
c.4250C>T (p.Pro1417Leu)
c.3935C>T (p.Pro1312Leu)
c.1832C>T (p.Pro611Leu)
c.4274C>T (p.Pro1425Leu)
c.4265C>T (p.Pro1422Leu)
c.4256C>T (p.Pro1419Leu)
c.2594C>T (p.Pro865Leu)
 gnomAD v4
Xg.108686074T>ACA517924108COL4A5c.4260T>A (p.Pro1420=)
c.4242T>A (p.Pro1414=)
n.754T>A
n.663T>A
c.56T>A
c.4251T>A (p.Pro1417=)
c.3936T>A (p.Pro1312=)
c.1833T>A (p.Pro611=)
c.4275T>A (p.Pro1425=)
c.4266T>A (p.Pro1422=)
c.4257T>A (p.Pro1419=)
c.2595T>A (p.Pro865=)
Xg.108686074T>CCA517924109COL4A5c.4260T>C (p.Pro1420=)
c.4242T>C (p.Pro1414=)
n.754T>C
n.663T>C
c.56T>C
c.4251T>C (p.Pro1417=)
c.3936T>C (p.Pro1312=)
c.1833T>C (p.Pro611=)
c.4275T>C (p.Pro1425=)
c.4266T>C (p.Pro1422=)
c.4257T>C (p.Pro1419=)
c.2595T>C (p.Pro865=)
 dbSNP
Xg.108686074T>GCA517924110COL4A5c.4260T>G (p.Pro1420=)
c.4242T>G (p.Pro1414=)
n.754T>G
n.663T>G
c.56T>G
c.4251T>G (p.Pro1417=)
c.3936T>G (p.Pro1312=)
c.1833T>G (p.Pro611=)
c.4275T>G (p.Pro1425=)
c.4266T>G (p.Pro1422=)
c.4257T>G (p.Pro1419=)
c.2595T>G (p.Pro865=)
Xg.108686074T=CA2450718766COL4A5c.4260T= (p.Pro1420=)
c.4242T= (p.Pro1414=)
n.754T=
n.663T=
c.56T=
c.4251T= (p.Pro1417=)
c.3936T= (p.Pro1312=)
c.1833T= (p.Pro611=)
c.4275T= (p.Pro1425=)
c.4266T= (p.Pro1422=)
c.4257T= (p.Pro1419=)
c.2595T= (p.Pro865=)
Xg.108686075G>ACA413853587COL4A5c.4261G>A (p.Gly1421Ser)
c.4243G>A (p.Gly1415Ser)
n.755G>A
n.664G>A
c.57G>A
c.4252G>A (p.Gly1418Ser)
c.3937G>A (p.Gly1313Ser)
c.1834G>A (p.Gly612Ser)
c.4276G>A (p.Gly1426Ser)
c.4267G>A (p.Gly1423Ser)
c.4258G>A (p.Gly1420Ser)
c.2596G>A (p.Gly866Ser)
Xg.108686075G>CCA413853591COL4A5c.4261G>C (p.Gly1421Arg)
c.4243G>C (p.Gly1415Arg)
n.755G>C
n.664G>C
c.57G>C
c.4252G>C (p.Gly1418Arg)
c.3937G>C (p.Gly1313Arg)
c.1834G>C (p.Gly612Arg)
c.4276G>C (p.Gly1426Arg)
c.4267G>C (p.Gly1423Arg)
c.4258G>C (p.Gly1420Arg)
c.2596G>C (p.Gly866Arg)
Xg.108686075G>TCA413853594COL4A5c.4261G>T (p.Gly1421Cys)
c.4243G>T (p.Gly1415Cys)
n.755G>T
n.664G>T
c.57G>T
c.4252G>T (p.Gly1418Cys)
c.3937G>T (p.Gly1313Cys)
c.1834G>T (p.Gly612Cys)
c.4276G>T (p.Gly1426Cys)
c.4267G>T (p.Gly1423Cys)
c.4258G>T (p.Gly1420Cys)
c.2596G>T (p.Gly866Cys)
Xg.108686076G>ACA413853598COL4A5c.4262G>A (p.Gly1421Asp)
c.4244G>A (p.Gly1415Asp)
n.756G>A
n.665G>A
c.58G>A
c.4253G>A (p.Gly1418Asp)
c.3938G>A (p.Gly1313Asp)
c.1835G>A (p.Gly612Asp)
c.4277G>A (p.Gly1426Asp)
c.4268G>A (p.Gly1423Asp)
c.4259G>A (p.Gly1420Asp)
c.2597G>A (p.Gly866Asp)
Xg.108686076G>CCA413853600COL4A5c.4262G>C (p.Gly1421Ala)
c.4244G>C (p.Gly1415Ala)
n.756G>C
n.665G>C
c.58G>C
c.4253G>C (p.Gly1418Ala)
c.3938G>C (p.Gly1313Ala)
c.1835G>C (p.Gly612Ala)
c.4277G>C (p.Gly1426Ala)
c.4268G>C (p.Gly1423Ala)
c.4259G>C (p.Gly1420Ala)
c.2597G>C (p.Gly866Ala)
Xg.108686076G>TCA413853603COL4A5c.4262G>T (p.Gly1421Val)
c.4244G>T (p.Gly1415Val)
n.756G>T
n.665G>T
c.58G>T
c.4253G>T (p.Gly1418Val)
c.3938G>T (p.Gly1313Val)
c.1835G>T (p.Gly612Val)
c.4277G>T (p.Gly1426Val)
c.4268G>T (p.Gly1423Val)
c.4259G>T (p.Gly1420Val)
c.2597G>T (p.Gly866Val)
Xg.108686077C>ACA517924115COL4A5c.4263C>A (p.Gly1421=)
c.4245C>A (p.Gly1415=)
n.757C>A
n.666C>A
c.59C>A
c.4254C>A (p.Gly1418=)
c.3939C>A (p.Gly1313=)
c.1836C>A (p.Gly612=)
c.4278C>A (p.Gly1426=)
c.4269C>A (p.Gly1423=)
c.4260C>A (p.Gly1420=)
c.2598C>A (p.Gly866=)
Xg.108686077C=CA2450718767COL4A5c.4263C= (p.Gly1421=)
c.4245C= (p.Gly1415=)
n.757C=
n.666C=
c.59C=
c.4254C= (p.Gly1418=)
c.3939C= (p.Gly1313=)
c.1836C= (p.Gly612=)
c.4278C= (p.Gly1426=)
c.4269C= (p.Gly1423=)
c.4260C= (p.Gly1420=)
c.2598C= (p.Gly866=)
Xg.108686077C>GCA517924114COL4A5c.4263C>G (p.Gly1421=)
c.4245C>G (p.Gly1415=)
n.757C>G
n.666C>G
c.59C>G
c.4254C>G (p.Gly1418=)
c.3939C>G (p.Gly1313=)
c.1836C>G (p.Gly612=)
c.4278C>G (p.Gly1426=)
c.4269C>G (p.Gly1423=)
c.4260C>G (p.Gly1420=)
c.2598C>G (p.Gly866=)
Xg.108686077C>TCA10489327COL4A5c.4263C>T (p.Gly1421=)
c.4245C>T (p.Gly1415=)
n.757C>T
n.666C>T
c.59C>T
c.4254C>T (p.Gly1418=)
c.3939C>T (p.Gly1313=)
c.1836C>T (p.Gly612=)
c.4278C>T (p.Gly1426=)
c.4269C>T (p.Gly1423=)
c.4260C>T (p.Gly1420=)
c.2598C>T (p.Gly866=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686078T>ACA413853608COL4A5c.4264T>A (p.Phe1422Ile)
c.4246T>A (p.Phe1416Ile)
n.758T>A
n.667T>A
c.60T>A
c.4255T>A (p.Phe1419Ile)
c.3940T>A (p.Phe1314Ile)
c.1837T>A (p.Phe613Ile)
c.4279T>A (p.Phe1427Ile)
c.4270T>A (p.Phe1424Ile)
c.4261T>A (p.Phe1421Ile)
c.2599T>A (p.Phe867Ile)
Xg.108686078T>CCA413853611COL4A5c.4264T>C (p.Phe1422Leu)
c.4246T>C (p.Phe1416Leu)
n.758T>C
n.667T>C
c.60T>C
c.4255T>C (p.Phe1419Leu)
c.3940T>C (p.Phe1314Leu)
c.1837T>C (p.Phe613Leu)
c.4279T>C (p.Phe1427Leu)
c.4270T>C (p.Phe1424Leu)
c.4261T>C (p.Phe1421Leu)
c.2599T>C (p.Phe867Leu)
Xg.108686078T>GCA413853614COL4A5c.4264T>G (p.Phe1422Val)
c.4246T>G (p.Phe1416Val)
n.758T>G
n.667T>G
c.60T>G
c.4255T>G (p.Phe1419Val)
c.3940T>G (p.Phe1314Val)
c.1837T>G (p.Phe613Val)
c.4279T>G (p.Phe1427Val)
c.4270T>G (p.Phe1424Val)
c.4261T>G (p.Phe1421Val)
c.2599T>G (p.Phe867Val)
Xg.108686079T>ACA413853617COL4A5c.4265T>A (p.Phe1422Tyr)
c.4247T>A (p.Phe1416Tyr)
n.759T>A
n.668T>A
c.61T>A
c.4256T>A (p.Phe1419Tyr)
c.3941T>A (p.Phe1314Tyr)
c.1838T>A (p.Phe613Tyr)
c.4280T>A (p.Phe1427Tyr)
c.4271T>A (p.Phe1424Tyr)
c.4262T>A (p.Phe1421Tyr)
c.2600T>A (p.Phe867Tyr)
Xg.108686079T>CCA413853621COL4A5c.4265T>C (p.Phe1422Ser)
c.4247T>C (p.Phe1416Ser)
n.759T>C
n.668T>C
c.61T>C
c.4256T>C (p.Phe1419Ser)
c.3941T>C (p.Phe1314Ser)
c.1838T>C (p.Phe613Ser)
c.4280T>C (p.Phe1427Ser)
c.4271T>C (p.Phe1424Ser)
c.4262T>C (p.Phe1421Ser)
c.2600T>C (p.Phe867Ser)
Xg.108686079T>GCA413853623COL4A5c.4265T>G (p.Phe1422Cys)
c.4247T>G (p.Phe1416Cys)
n.759T>G
n.668T>G
c.61T>G
c.4256T>G (p.Phe1419Cys)
c.3941T>G (p.Phe1314Cys)
c.1838T>G (p.Phe613Cys)
c.4280T>G (p.Phe1427Cys)
c.4271T>G (p.Phe1424Cys)
c.4262T>G (p.Phe1421Cys)
c.2600T>G (p.Phe867Cys)
Xg.108686080T>ACA413853630COL4A5c.4266T>A (p.Phe1422Leu)
c.4248T>A (p.Phe1416Leu)
n.760T>A
n.669T>A
c.62T>A
c.4257T>A (p.Phe1419Leu)
c.3942T>A (p.Phe1314Leu)
c.1839T>A (p.Phe613Leu)
c.4281T>A (p.Phe1427Leu)
c.4272T>A (p.Phe1424Leu)
c.4263T>A (p.Phe1421Leu)
c.2601T>A (p.Phe867Leu)
 gnomAD v4
Xg.108686080T>CCA10489328COL4A5c.4266T>C (p.Phe1422=)
c.4248T>C (p.Phe1416=)
n.760T>C
n.669T>C
c.62T>C
c.4257T>C (p.Phe1419=)
c.3942T>C (p.Phe1314=)
c.1839T>C (p.Phe613=)
c.4281T>C (p.Phe1427=)
c.4272T>C (p.Phe1424=)
c.4263T>C (p.Phe1421=)
c.2601T>C (p.Phe867=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686080T>GCA413853627COL4A5c.4266T>G (p.Phe1422Leu)
c.4248T>G (p.Phe1416Leu)
n.760T>G
n.669T>G
c.62T>G
c.4257T>G (p.Phe1419Leu)
c.3942T>G (p.Phe1314Leu)
c.1839T>G (p.Phe613Leu)
c.4281T>G (p.Phe1427Leu)
c.4272T>G (p.Phe1424Leu)
c.4263T>G (p.Phe1421Leu)
c.2601T>G (p.Phe867Leu)
Xg.108686080T=CA2450718768COL4A5c.4266T= (p.Phe1422=)
c.4248T= (p.Phe1416=)
n.760T=
n.669T=
c.62T=
c.4257T= (p.Phe1419=)
c.3942T= (p.Phe1314=)
c.1839T= (p.Phe613=)
c.4281T= (p.Phe1427=)
c.4272T= (p.Phe1424=)
c.4263T= (p.Phe1421=)
c.2601T= (p.Phe867=)
Xg.108686081G>ACA10489329COL4A5c.4267G>A (p.Asp1423Asn)
c.4249G>A (p.Asp1417Asn)
n.761G>A
n.670G>A
c.63G>A
c.4258G>A (p.Asp1420Asn)
c.3943G>A (p.Asp1315Asn)
c.1840G>A (p.Asp614Asn)
c.4282G>A (p.Asp1428Asn)
c.4273G>A (p.Asp1425Asn)
c.4264G>A (p.Asp1422Asn)
c.2602G>A (p.Asp868Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686081G>CCA413853635COL4A5c.4267G>C (p.Asp1423His)
c.4249G>C (p.Asp1417His)
n.761G>C
n.670G>C
c.63G>C
c.4258G>C (p.Asp1420His)
c.3943G>C (p.Asp1315His)
c.1840G>C (p.Asp614His)
c.4282G>C (p.Asp1428His)
c.4273G>C (p.Asp1425His)
c.4264G>C (p.Asp1422His)
c.2602G>C (p.Asp868His)
 COSMIC COSMIC
Xg.108686081G=CA2450718769COL4A5c.4267G= (p.Asp1423=)
c.4249G= (p.Asp1417=)
n.761G=
n.670G=
c.63G=
c.4258G= (p.Asp1420=)
c.3943G= (p.Asp1315=)
c.1840G= (p.Asp614=)
c.4282G= (p.Asp1428=)
c.4273G= (p.Asp1425=)
c.4264G= (p.Asp1422=)
c.2602G= (p.Asp868=)
Xg.108686081G>TCA413853638COL4A5c.4267G>T (p.Asp1423Tyr)
c.4249G>T (p.Asp1417Tyr)
n.761G>T
n.670G>T
c.63G>T
c.4258G>T (p.Asp1420Tyr)
c.3943G>T (p.Asp1315Tyr)
c.1840G>T (p.Asp614Tyr)
c.4282G>T (p.Asp1428Tyr)
c.4273G>T (p.Asp1425Tyr)
c.4264G>T (p.Asp1422Tyr)
c.2602G>T (p.Asp868Tyr)
 gnomAD v4
Xg.108686082A=CA2450718770COL4A5c.4268A= (p.Asp1423=)
c.4250A= (p.Asp1417=)
n.762A=
n.671A=
c.64A=
c.4259A= (p.Asp1420=)
c.3944A= (p.Asp1315=)
c.1841A= (p.Asp614=)
c.4283A= (p.Asp1428=)
c.4274A= (p.Asp1425=)
c.4265A= (p.Asp1422=)
c.2603A= (p.Asp868=)
Xg.108686082A>CCA413853641COL4A5c.4268A>C (p.Asp1423Ala)
c.4250A>C (p.Asp1417Ala)
n.762A>C
n.671A>C
c.64A>C
c.4259A>C (p.Asp1420Ala)
c.3944A>C (p.Asp1315Ala)
c.1841A>C (p.Asp614Ala)
c.4283A>C (p.Asp1428Ala)
c.4274A>C (p.Asp1425Ala)
c.4265A>C (p.Asp1422Ala)
c.2603A>C (p.Asp868Ala)
Xg.108686082A>GCA413853644COL4A5c.4268A>G (p.Asp1423Gly)
c.4250A>G (p.Asp1417Gly)
n.762A>G
n.671A>G
c.64A>G
c.4259A>G (p.Asp1420Gly)
c.3944A>G (p.Asp1315Gly)
c.1841A>G (p.Asp614Gly)
c.4283A>G (p.Asp1428Gly)
c.4274A>G (p.Asp1425Gly)
c.4265A>G (p.Asp1422Gly)
c.2603A>G (p.Asp868Gly)
 dbSNP gnomAD v2 gnomAD v4
Xg.108686082A>TCA413853646COL4A5c.4268A>T (p.Asp1423Val)
c.4250A>T (p.Asp1417Val)
n.762A>T
n.671A>T
c.64A>T
c.4259A>T (p.Asp1420Val)
c.3944A>T (p.Asp1315Val)
c.1841A>T (p.Asp614Val)
c.4283A>T (p.Asp1428Val)
c.4274A>T (p.Asp1425Val)
c.4265A>T (p.Asp1422Val)
c.2603A>T (p.Asp868Val)
Xg.108686083T>ACA413853649COL4A5c.4269T>A (p.Asp1423Glu)
c.4251T>A (p.Asp1417Glu)
n.763T>A
n.672T>A
c.65T>A
c.4260T>A (p.Asp1420Glu)
c.3945T>A (p.Asp1315Glu)
c.1842T>A (p.Asp614Glu)
c.4284T>A (p.Asp1428Glu)
c.4275T>A (p.Asp1425Glu)
c.4266T>A (p.Asp1422Glu)
c.2604T>A (p.Asp868Glu)
Xg.108686083T>CCA517924126COL4A5c.4269T>C (p.Asp1423=)
c.4251T>C (p.Asp1417=)
n.763T>C
n.672T>C
c.65T>C
c.4260T>C (p.Asp1420=)
c.3945T>C (p.Asp1315=)
c.1842T>C (p.Asp614=)
c.4284T>C (p.Asp1428=)
c.4275T>C (p.Asp1425=)
c.4266T>C (p.Asp1422=)
c.2604T>C (p.Asp868=)
Xg.108686083T>GCA413853650COL4A5c.4269T>G (p.Asp1423Glu)
c.4251T>G (p.Asp1417Glu)
n.763T>G
n.672T>G
c.65T>G
c.4260T>G (p.Asp1420Glu)
c.3945T>G (p.Asp1315Glu)
c.1842T>G (p.Asp614Glu)
c.4284T>G (p.Asp1428Glu)
c.4275T>G (p.Asp1425Glu)
c.4266T>G (p.Asp1422Glu)
c.2604T>G (p.Asp868Glu)
Xg.108686084G>ACA10489330COL4A5c.4270G>A (p.Gly1424Ser)
c.4252G>A (p.Gly1418Ser)
n.764G>A
n.673G>A
c.66G>A
c.4261G>A (p.Gly1421Ser)
c.3946G>A (p.Gly1316Ser)
c.1843G>A (p.Gly615Ser)
c.4285G>A (p.Gly1429Ser)
c.4276G>A (p.Gly1426Ser)
c.4267G>A (p.Gly1423Ser)
c.2605G>A (p.Gly869Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108686084G>CCA413853652COL4A5c.4270G>C (p.Gly1424Arg)
c.4252G>C (p.Gly1418Arg)
n.764G>C
n.673G>C
c.66G>C
c.4261G>C (p.Gly1421Arg)
c.3946G>C (p.Gly1316Arg)
c.1843G>C (p.Gly615Arg)
c.4285G>C (p.Gly1429Arg)
c.4276G>C (p.Gly1426Arg)
c.4267G>C (p.Gly1423Arg)
c.2605G>C (p.Gly869Arg)
Xg.108686084G=CA2450718771COL4A5c.4270G= (p.Gly1424=)
c.4252G= (p.Gly1418=)
n.764G=
n.673G=
c.66G=
c.4261G= (p.Gly1421=)
c.3946G= (p.Gly1316=)
c.1843G= (p.Gly615=)
c.4285G= (p.Gly1429=)
c.4276G= (p.Gly1426=)
c.4267G= (p.Gly1423=)
c.2605G= (p.Gly869=)
Xg.108686084G>TCA413853654COL4A5c.4270G>T (p.Gly1424Cys)
c.4252G>T (p.Gly1418Cys)
n.764G>T
n.673G>T
c.66G>T
c.4261G>T (p.Gly1421Cys)
c.3946G>T (p.Gly1316Cys)
c.1843G>T (p.Gly615Cys)
c.4285G>T (p.Gly1429Cys)
c.4276G>T (p.Gly1426Cys)
c.4267G>T (p.Gly1423Cys)
c.2605G>T (p.Gly869Cys)
 gnomAD v4
Xg.108686085G>ACA413853656COL4A5c.4271G>A (p.Gly1424Asp)
c.4253G>A (p.Gly1418Asp)
n.765G>A
n.674G>A
c.67G>A
c.4262G>A (p.Gly1421Asp)
c.3947G>A (p.Gly1316Asp)
c.1844G>A (p.Gly615Asp)
c.4286G>A (p.Gly1429Asp)
c.4277G>A (p.Gly1426Asp)
c.4268G>A (p.Gly1423Asp)
c.2606G>A (p.Gly869Asp)
Xg.108686085G>CCA413853662COL4A5c.4271G>C (p.Gly1424Ala)
c.4253G>C (p.Gly1418Ala)
n.765G>C
n.674G>C
c.67G>C
c.4262G>C (p.Gly1421Ala)
c.3947G>C (p.Gly1316Ala)
c.1844G>C (p.Gly615Ala)
c.4286G>C (p.Gly1429Ala)
c.4277G>C (p.Gly1426Ala)
c.4268G>C (p.Gly1423Ala)
c.2606G>C (p.Gly869Ala)
Xg.108686085G>TCA413853659COL4A5c.4271G>T (p.Gly1424Val)
c.4253G>T (p.Gly1418Val)
n.765G>T
n.674G>T
c.67G>T
c.4262G>T (p.Gly1421Val)
c.3947G>T (p.Gly1316Val)
c.1844G>T (p.Gly615Val)
c.4286G>T (p.Gly1429Val)
c.4277G>T (p.Gly1426Val)
c.4268G>T (p.Gly1423Val)
c.2606G>T (p.Gly869Val)
Xg.108686086T>ACA517924132COL4A5c.4272T>A (p.Gly1424=)
c.4254T>A (p.Gly1418=)
n.766T>A
n.675T>A
c.68T>A
c.4263T>A (p.Gly1421=)
c.3948T>A (p.Gly1316=)
c.1845T>A (p.Gly615=)
c.4287T>A (p.Gly1429=)
c.4278T>A (p.Gly1426=)
c.4269T>A (p.Gly1423=)
c.2607T>A (p.Gly869=)
Xg.108686086T>CCA517924133COL4A5c.4272T>C (p.Gly1424=)
c.4254T>C (p.Gly1418=)
n.766T>C
n.675T>C
c.68T>C
c.4263T>C (p.Gly1421=)
c.3948T>C (p.Gly1316=)
c.1845T>C (p.Gly615=)
c.4287T>C (p.Gly1429=)
c.4278T>C (p.Gly1426=)
c.4269T>C (p.Gly1423=)
c.2607T>C (p.Gly869=)
Xg.108686086T>GCA517924134COL4A5c.4272T>G (p.Gly1424=)
c.4254T>G (p.Gly1418=)
n.766T>G
n.675T>G
c.68T>G
c.4263T>G (p.Gly1421=)
c.3948T>G (p.Gly1316=)
c.1845T>G (p.Gly615=)
c.4287T>G (p.Gly1429=)
c.4278T>G (p.Gly1426=)
c.4269T>G (p.Gly1423=)
c.2607T>G (p.Gly869=)
Xg.108686086_108686091delinsCGCAAAGGAGACCCCA2695235231COL4A5c.4272_4277delinsCGCAAAGGAGACCC (p.Gly1426LysfsTer?)
c.4254_4259delinsCGCAAAGGAGACCC (p.Gly1420LysfsTer?)
n.766_771delinsCGCAAAGGAGACCC
n.675_680delinsCGCAAAGGAGACCC
c.68_73delinsCGCAAAGGAGACCC
c.4263_4268delinsCGCAAAGGAGACCC (p.Gly1423LysfsTer?)
c.3948_3953delinsCGCAAAGGAGACCC (p.Gly1318LysfsTer?)
c.1845_1850delinsCGCAAAGGAGACCC (p.Gly617LysfsTer?)
c.4287_4292delinsCGCAAAGGAGACCC (p.Gly1431LysfsTer?)
c.4278_4283delinsCGCAAAGGAGACCC (p.Gly1428LysfsTer?)
c.4269_4274delinsCGCAAAGGAGACCC (p.Gly1425LysfsTer?)
c.2607_2612delinsCGCAAAGGAGACCC (p.Gly871LysfsTer?)
Xg.108686087G>ACA413853665COL4A5c.4273G>A (p.Ala1425Thr)
c.4255G>A (p.Ala1419Thr)
n.767G>A
n.676G>A
c.69G>A
c.4264G>A (p.Ala1422Thr)
c.3949G>A (p.Ala1317Thr)
c.1846G>A (p.Ala616Thr)
c.4288G>A (p.Ala1430Thr)
c.4279G>A (p.Ala1427Thr)
c.4270G>A (p.Ala1424Thr)
c.2608G>A (p.Ala870Thr)
 dbSNP gnomAD v4
Xg.108686087G>CCA413853670COL4A5c.4273G>C (p.Ala1425Pro)
c.4255G>C (p.Ala1419Pro)
n.767G>C
n.676G>C
c.69G>C
c.4264G>C (p.Ala1422Pro)
c.3949G>C (p.Ala1317Pro)
c.1846G>C (p.Ala616Pro)
c.4288G>C (p.Ala1430Pro)
c.4279G>C (p.Ala1427Pro)
c.4270G>C (p.Ala1424Pro)
c.2608G>C (p.Ala870Pro)
Xg.108686087G=CA2450718772COL4A5c.4273G= (p.Ala1425=)
c.4255G= (p.Ala1419=)
n.767G=
n.676G=
c.69G=
c.4264G= (p.Ala1422=)
c.3949G= (p.Ala1317=)
c.1846G= (p.Ala616=)
c.4288G= (p.Ala1430=)
c.4279G= (p.Ala1427=)
c.4270G= (p.Ala1424=)
c.2608G= (p.Ala870=)
Xg.108686087G>TCA413853667COL4A5c.4273G>T (p.Ala1425Ser)
c.4255G>T (p.Ala1419Ser)
n.767G>T
n.676G>T
c.69G>T
c.4264G>T (p.Ala1422Ser)
c.3949G>T (p.Ala1317Ser)
c.1846G>T (p.Ala616Ser)
c.4288G>T (p.Ala1430Ser)
c.4279G>T (p.Ala1427Ser)
c.4270G>T (p.Ala1424Ser)
c.2608G>T (p.Ala870Ser)
 gnomAD v4
Xg.108686088C>ACA413853672COL4A5c.4274C>A (p.Ala1425Glu)
c.4256C>A (p.Ala1419Glu)
n.768C>A
n.677C>A
c.70C>A
c.4265C>A (p.Ala1422Glu)
c.3950C>A (p.Ala1317Glu)
c.1847C>A (p.Ala616Glu)
c.4289C>A (p.Ala1430Glu)
c.4280C>A (p.Ala1427Glu)
c.4271C>A (p.Ala1424Glu)
c.2609C>A (p.Ala870Glu)
Xg.108686088C>GCA413853674COL4A5c.4274C>G (p.Ala1425Gly)
c.4256C>G (p.Ala1419Gly)
n.768C>G
n.677C>G
c.70C>G
c.4265C>G (p.Ala1422Gly)
c.3950C>G (p.Ala1317Gly)
c.1847C>G (p.Ala616Gly)
c.4289C>G (p.Ala1430Gly)
c.4280C>G (p.Ala1427Gly)
c.4271C>G (p.Ala1424Gly)
c.2609C>G (p.Ala870Gly)
Xg.108686088C>TCA413853676COL4A5c.4274C>T (p.Ala1425Val)
c.4256C>T (p.Ala1419Val)
n.768C>T
n.677C>T
c.70C>T
c.4265C>T (p.Ala1422Val)
c.3950C>T (p.Ala1317Val)
c.1847C>T (p.Ala616Val)
c.4289C>T (p.Ala1430Val)
c.4280C>T (p.Ala1427Val)
c.4271C>T (p.Ala1424Val)
c.2609C>T (p.Ala870Val)
Xg.108686089A>CCA517924137COL4A5c.4275A>C (p.Ala1425=)
c.4257A>C (p.Ala1419=)
n.769A>C
n.678A>C
c.71A>C
c.4266A>C (p.Ala1422=)
c.3951A>C (p.Ala1317=)
c.1848A>C (p.Ala616=)
c.4290A>C (p.Ala1430=)
c.4281A>C (p.Ala1427=)
c.4272A>C (p.Ala1424=)
c.2610A>C (p.Ala870=)
Xg.108686089A>GCA517924138COL4A5c.4275A>G (p.Ala1425=)
c.4257A>G (p.Ala1419=)
n.769A>G
n.678A>G
c.71A>G
c.4266A>G (p.Ala1422=)
c.3951A>G (p.Ala1317=)
c.1848A>G (p.Ala616=)
c.4290A>G (p.Ala1430=)
c.4281A>G (p.Ala1427=)
c.4272A>G (p.Ala1424=)
c.2610A>G (p.Ala870=)
 gnomAD v4
Xg.108686089A>TCA517924139COL4A5c.4275A>T (p.Ala1425=)
c.4257A>T (p.Ala1419=)
n.769A>T
n.678A>T
c.71A>T
c.4266A>T (p.Ala1422=)
c.3951A>T (p.Ala1317=)
c.1848A>T (p.Ala616=)
c.4290A>T (p.Ala1430=)
c.4281A>T (p.Ala1427=)
c.4272A>T (p.Ala1424=)
c.2610A>T (p.Ala870=)
Xg.108686090G>ACA413853679COL4A5c.4276G>A (p.Gly1426Arg)
c.4258G>A (p.Gly1420Arg)
n.770G>A
n.679G>A
c.72G>A
c.4267G>A (p.Gly1423Arg)
c.3952G>A (p.Gly1318Arg)
c.1849G>A (p.Gly617Arg)
c.4291G>A (p.Gly1431Arg)
c.4282G>A (p.Gly1428Arg)
c.4273G>A (p.Gly1425Arg)
c.2611G>A (p.Gly871Arg)
Xg.108686090G>CCA413853681COL4A5c.4276G>C (p.Gly1426Arg)
c.4258G>C (p.Gly1420Arg)
n.770G>C
n.679G>C
c.72G>C
c.4267G>C (p.Gly1423Arg)
c.3952G>C (p.Gly1318Arg)
c.1849G>C (p.Gly617Arg)
c.4291G>C (p.Gly1431Arg)
c.4282G>C (p.Gly1428Arg)
c.4273G>C (p.Gly1425Arg)
c.2611G>C (p.Gly871Arg)
Xg.108686090G>TCA413853685COL4A5c.4276G>T (p.Gly1426Ter)
c.4258G>T (p.Gly1420Ter)
n.770G>T
n.679G>T
c.72G>T
c.4267G>T (p.Gly1423Ter)
c.3952G>T (p.Gly1318Ter)
c.1849G>T (p.Gly617Ter)
c.4291G>T (p.Gly1431Ter)
c.4282G>T (p.Gly1428Ter)
c.4273G>T (p.Gly1425Ter)
c.2611G>T (p.Gly871Ter)
Xg.108686091G>ACA413853688COL4A5c.4277G>A (p.Gly1426Glu)
c.4259G>A (p.Gly1420Glu)
n.771G>A
n.680G>A
c.73G>A
c.4268G>A (p.Gly1423Glu)
c.3953G>A (p.Gly1318Glu)
c.1850G>A (p.Gly617Glu)
c.4292G>A (p.Gly1431Glu)
c.4283G>A (p.Gly1428Glu)
c.4274G>A (p.Gly1425Glu)
c.2612G>A (p.Gly871Glu)
Xg.108686091G>CCA413853689COL4A5c.4277G>C (p.Gly1426Ala)
c.4259G>C (p.Gly1420Ala)
n.771G>C
n.680G>C
c.73G>C
c.4268G>C (p.Gly1423Ala)
c.3953G>C (p.Gly1318Ala)
c.1850G>C (p.Gly617Ala)
c.4292G>C (p.Gly1431Ala)
c.4283G>C (p.Gly1428Ala)
c.4274G>C (p.Gly1425Ala)
c.2612G>C (p.Gly871Ala)
Xg.108686091G>TCA413853692COL4A5c.4277G>T (p.Gly1426Val)
c.4259G>T (p.Gly1420Val)
n.771G>T
n.680G>T
c.73G>T
c.4268G>T (p.Gly1423Val)
c.3953G>T (p.Gly1318Val)
c.1850G>T (p.Gly617Val)
c.4292G>T (p.Gly1431Val)
c.4283G>T (p.Gly1428Val)
c.4274G>T (p.Gly1425Val)
c.2612G>T (p.Gly871Val)
Xg.108686092A>CCA517924147COL4A5c.4278A>C (p.Gly1426=)
c.4260A>C (p.Gly1420=)
n.772A>C
n.681A>C
c.74A>C
c.4269A>C (p.Gly1423=)
c.3954A>C (p.Gly1318=)
c.1851A>C (p.Gly617=)
c.4293A>C (p.Gly1431=)
c.4284A>C (p.Gly1428=)
c.4275A>C (p.Gly1425=)
c.2613A>C (p.Gly871=)
Xg.108686092A>GCA517924148COL4A5c.4278A>G (p.Gly1426=)
c.4260A>G (p.Gly1420=)
n.772A>G
n.681A>G
c.74A>G
c.4269A>G (p.Gly1423=)
c.3954A>G (p.Gly1318=)
c.1851A>G (p.Gly617=)
c.4293A>G (p.Gly1431=)
c.4284A>G (p.Gly1428=)
c.4275A>G (p.Gly1425=)
c.2613A>G (p.Gly871=)
Xg.108686092A>TCA517924149COL4A5c.4278A>T (p.Gly1426=)
c.4260A>T (p.Gly1420=)
n.772A>T
n.681A>T
c.74A>T
c.4269A>T (p.Gly1423=)
c.3954A>T (p.Gly1318=)
c.1851A>T (p.Gly617=)
c.4293A>T (p.Gly1431=)
c.4284A>T (p.Gly1428=)
c.4275A>T (p.Gly1425=)
c.2613A>T (p.Gly871=)
Xg.108686093G>ACA413853696COL4A5c.4279G>A (p.Gly1427Arg)
c.4261G>A (p.Gly1421Arg)
n.773G>A
n.682G>A
c.75G>A
c.4270G>A (p.Gly1424Arg)
c.3955G>A (p.Gly1319Arg)
c.1852G>A (p.Gly618Arg)
c.4294G>A (p.Gly1432Arg)
c.4285G>A (p.Gly1429Arg)
c.4276G>A (p.Gly1426Arg)
c.2614G>A (p.Gly872Arg)
Xg.108686093G>CCA413853697COL4A5c.4279G>C (p.Gly1427Arg)
c.4261G>C (p.Gly1421Arg)
n.773G>C
n.682G>C
c.75G>C
c.4270G>C (p.Gly1424Arg)
c.3955G>C (p.Gly1319Arg)
c.1852G>C (p.Gly618Arg)
c.4294G>C (p.Gly1432Arg)
c.4285G>C (p.Gly1429Arg)
c.4276G>C (p.Gly1426Arg)
c.2614G>C (p.Gly872Arg)
 dbSNP
Xg.108686093G=CA2450718773COL4A5c.4279G= (p.Gly1427=)
c.4261G= (p.Gly1421=)
n.773G=
n.682G=
c.75G=
c.4270G= (p.Gly1424=)
c.3955G= (p.Gly1319=)
c.1852G= (p.Gly618=)
c.4294G= (p.Gly1432=)
c.4285G= (p.Gly1429=)
c.4276G= (p.Gly1426=)
c.2614G= (p.Gly872=)
Xg.108686093G>TCA259010COL4A5c.4279G>T (p.Gly1427Trp)
c.4261G>T (p.Gly1421Trp)
n.773G>T
n.682G>T
c.75G>T
c.4270G>T (p.Gly1424Trp)
c.3955G>T (p.Gly1319Trp)
c.1852G>T (p.Gly618Trp)
c.4294G>T (p.Gly1432Trp)
c.4285G>T (p.Gly1429Trp)
c.4276G>T (p.Gly1426Trp)
c.2614G>T (p.Gly872Trp)
 dbSNP
Xg.108686094G>ACA413853703COL4A5c.4280G>A (p.Gly1427Glu)
c.4262G>A (p.Gly1421Glu)
n.774G>A
n.683G>A
c.76G>A
c.4271G>A (p.Gly1424Glu)
c.3956G>A (p.Gly1319Glu)
c.1853G>A (p.Gly618Glu)
c.4295G>A (p.Gly1432Glu)
c.4286G>A (p.Gly1429Glu)
c.4277G>A (p.Gly1426Glu)
c.2615G>A (p.Gly872Glu)
Xg.108686094G>CCA413853709COL4A5c.4280G>C (p.Gly1427Ala)
c.4262G>C (p.Gly1421Ala)
n.774G>C
n.683G>C
c.76G>C
c.4271G>C (p.Gly1424Ala)
c.3956G>C (p.Gly1319Ala)
c.1853G>C (p.Gly618Ala)
c.4295G>C (p.Gly1432Ala)
c.4286G>C (p.Gly1429Ala)
c.4277G>C (p.Gly1426Ala)
c.2615G>C (p.Gly872Ala)
Xg.108686094G>TCA413853706COL4A5c.4280G>T (p.Gly1427Val)
c.4262G>T (p.Gly1421Val)
n.774G>T
n.683G>T
c.76G>T
c.4271G>T (p.Gly1424Val)
c.3956G>T (p.Gly1319Val)
c.1853G>T (p.Gly618Val)
c.4295G>T (p.Gly1432Val)
c.4286G>T (p.Gly1429Val)
c.4277G>T (p.Gly1426Val)
c.2615G>T (p.Gly872Val)
 COSMIC
Xg.108686095G>ACA334058364COL4A5c.4281G>A (p.Gly1427=)
c.4263G>A (p.Gly1421=)
n.775G>A
n.684G>A
c.77G>A
c.4272G>A (p.Gly1424=)
c.3957G>A (p.Gly1319=)
c.1854G>A (p.Gly618=)
c.4296G>A (p.Gly1432=)
c.4287G>A (p.Gly1429=)
c.4278G>A (p.Gly1426=)
c.2616G>A (p.Gly872=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686095G>CCA517924154COL4A5c.4281G>C (p.Gly1427=)
c.4263G>C (p.Gly1421=)
n.775G>C
n.684G>C
c.77G>C
c.4272G>C (p.Gly1424=)
c.3957G>C (p.Gly1319=)
c.1854G>C (p.Gly618=)
c.4296G>C (p.Gly1432=)
c.4287G>C (p.Gly1429=)
c.4278G>C (p.Gly1426=)
c.2616G>C (p.Gly872=)
Xg.108686095G=CA2450718774COL4A5c.4281G= (p.Gly1427=)
c.4263G= (p.Gly1421=)
n.775G=
n.684G=
c.77G=
c.4272G= (p.Gly1424=)
c.3957G= (p.Gly1319=)
c.1854G= (p.Gly618=)
c.4296G= (p.Gly1432=)
c.4287G= (p.Gly1429=)
c.4278G= (p.Gly1426=)
c.2616G= (p.Gly872=)
Xg.108686095G>TCA517924156COL4A5c.4281G>T (p.Gly1427=)
c.4263G>T (p.Gly1421=)
n.775G>T
n.684G>T
c.77G>T
c.4272G>T (p.Gly1424=)
c.3957G>T (p.Gly1319=)
c.1854G>T (p.Gly618=)
c.4296G>T (p.Gly1432=)
c.4287G>T (p.Gly1429=)
c.4278G>T (p.Gly1426=)
c.2616G>T (p.Gly872=)
Xg.108686096C>ACA413853712COL4A5c.4282C>A (p.Arg1428Ser)
c.4264C>A (p.Arg1422Ser)
n.776C>A
n.685C>A
c.78C>A
c.4273C>A (p.Arg1425Ser)
c.3958C>A (p.Arg1320Ser)
c.1855C>A (p.Arg619Ser)
c.4297C>A (p.Arg1433Ser)
c.4288C>A (p.Arg1430Ser)
c.4279C>A (p.Arg1427Ser)
c.2617C>A (p.Arg873Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686096C=CA2450718775COL4A5c.4282C= (p.Arg1428=)
c.4264C= (p.Arg1422=)
n.776C=
n.685C=
c.78C=
c.4273C= (p.Arg1425=)
c.3958C= (p.Arg1320=)
c.1855C= (p.Arg619=)
c.4297C= (p.Arg1433=)
c.4288C= (p.Arg1430=)
c.4279C= (p.Arg1427=)
c.2617C= (p.Arg873=)
Xg.108686096C>GCA413853715COL4A5c.4282C>G (p.Arg1428Gly)
c.4264C>G (p.Arg1422Gly)
n.776C>G
n.685C>G
c.78C>G
c.4273C>G (p.Arg1425Gly)
c.3958C>G (p.Arg1320Gly)
c.1855C>G (p.Arg619Gly)
c.4297C>G (p.Arg1433Gly)
c.4288C>G (p.Arg1430Gly)
c.4279C>G (p.Arg1427Gly)
c.2617C>G (p.Arg873Gly)
Xg.108686096C>TCA033364COL4A5c.4282C>T (p.Arg1428Cys)
c.4264C>T (p.Arg1422Cys)
n.776C>T
n.685C>T
c.78C>T
c.4273C>T (p.Arg1425Cys)
c.3958C>T (p.Arg1320Cys)
c.1855C>T (p.Arg619Cys)
c.4297C>T (p.Arg1433Cys)
c.4288C>T (p.Arg1430Cys)
c.4279C>T (p.Arg1427Cys)
c.2617C>T (p.Arg873Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686097G>ACA413853719COL4A5c.4283G>A (p.Arg1428His)
c.4265G>A (p.Arg1422His)
n.777G>A
n.686G>A
c.79G>A
c.4274G>A (p.Arg1425His)
c.3959G>A (p.Arg1320His)
c.1856G>A (p.Arg619His)
c.4298G>A (p.Arg1433His)
c.4289G>A (p.Arg1430His)
c.4280G>A (p.Arg1427His)
c.2618G>A (p.Arg873His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108686097G>CCA413853721COL4A5c.4283G>C (p.Arg1428Pro)
c.4265G>C (p.Arg1422Pro)
n.777G>C
n.686G>C
c.79G>C
c.4274G>C (p.Arg1425Pro)
c.3959G>C (p.Arg1320Pro)
c.1856G>C (p.Arg619Pro)
c.4298G>C (p.Arg1433Pro)
c.4289G>C (p.Arg1430Pro)
c.4280G>C (p.Arg1427Pro)
c.2618G>C (p.Arg873Pro)
Xg.108686097G=CA2450718776COL4A5c.4283G= (p.Arg1428=)
c.4265G= (p.Arg1422=)
n.777G=
n.686G=
c.79G=
c.4274G= (p.Arg1425=)
c.3959G= (p.Arg1320=)
c.1856G= (p.Arg619=)
c.4298G= (p.Arg1433=)
c.4289G= (p.Arg1430=)
c.4280G= (p.Arg1427=)
c.2618G= (p.Arg873=)
Xg.108686097G>TCA413853722COL4A5c.4283G>T (p.Arg1428Leu)
c.4265G>T (p.Arg1422Leu)
n.777G>T
n.686G>T
c.79G>T
c.4274G>T (p.Arg1425Leu)
c.3959G>T (p.Arg1320Leu)
c.1856G>T (p.Arg619Leu)
c.4298G>T (p.Arg1433Leu)
c.4289G>T (p.Arg1430Leu)
c.4280G>T (p.Arg1427Leu)
c.2618G>T (p.Arg873Leu)
 gnomAD v4
Xg.108686098C>ACA517924166COL4A5c.4284C>A (p.Arg1428=)
c.4266C>A (p.Arg1422=)
n.778C>A
n.687C>A
c.80C>A
c.4275C>A (p.Arg1425=)
c.3960C>A (p.Arg1320=)
c.1857C>A (p.Arg619=)
c.4299C>A (p.Arg1433=)
c.4290C>A (p.Arg1430=)
c.4281C>A (p.Arg1427=)
c.2619C>A (p.Arg873=)
Xg.108686098C>GCA517924164COL4A5c.4284C>G (p.Arg1428=)
c.4266C>G (p.Arg1422=)
n.778C>G
n.687C>G
c.80C>G
c.4275C>G (p.Arg1425=)
c.3960C>G (p.Arg1320=)
c.1857C>G (p.Arg619=)
c.4299C>G (p.Arg1433=)
c.4290C>G (p.Arg1430=)
c.4281C>G (p.Arg1427=)
c.2619C>G (p.Arg873=)
Xg.108686098C>TCA517924162COL4A5c.4284C>T (p.Arg1428=)
c.4266C>T (p.Arg1422=)
n.778C>T
n.687C>T
c.80C>T
c.4275C>T (p.Arg1425=)
c.3960C>T (p.Arg1320=)
c.1857C>T (p.Arg619=)
c.4299C>T (p.Arg1433=)
c.4290C>T (p.Arg1430=)
c.4281C>T (p.Arg1427=)
c.2619C>T (p.Arg873=)
 ClinVar
Xg.108686099A>CCA413853725COL4A5c.4285A>C (p.Lys1429Gln)
c.4267A>C (p.Lys1423Gln)
n.779A>C
n.688A>C
c.81A>C
c.4276A>C (p.Lys1426Gln)
c.3961A>C (p.Lys1321Gln)
c.1858A>C (p.Lys620Gln)
c.4300A>C (p.Lys1434Gln)
c.4291A>C (p.Lys1431Gln)
c.4282A>C (p.Lys1428Gln)
c.2620A>C (p.Lys874Gln)
Xg.108686099A>GCA413853727COL4A5c.4285A>G (p.Lys1429Glu)
c.4267A>G (p.Lys1423Glu)
n.779A>G
n.688A>G
c.81A>G
c.4276A>G (p.Lys1426Glu)
c.3961A>G (p.Lys1321Glu)
c.1858A>G (p.Lys620Glu)
c.4300A>G (p.Lys1434Glu)
c.4291A>G (p.Lys1431Glu)
c.4282A>G (p.Lys1428Glu)
c.2620A>G (p.Lys874Glu)
Xg.108686099A>TCA413853728COL4A5c.4285A>T (p.Lys1429Ter)
c.4267A>T (p.Lys1423Ter)
n.779A>T
n.688A>T
c.81A>T
c.4276A>T (p.Lys1426Ter)
c.3961A>T (p.Lys1321Ter)
c.1858A>T (p.Lys620Ter)
c.4300A>T (p.Lys1434Ter)
c.4291A>T (p.Lys1431Ter)
c.4282A>T (p.Lys1428Ter)
c.2620A>T (p.Lys874Ter)
Xg.108686100_108686101dupCA2739290544COL4A5c.4286_4287dup (p.Gly1430LysfsTer?)
c.4268_4269dup (p.Gly1424LysfsTer?)
n.780_781dup
n.689_690dup
c.82_83dup
c.4277_4278dup (p.Gly1427LysfsTer?)
c.3962_3963dup (p.Gly1322LysfsTer?)
c.1859_1860dup (p.Gly621LysfsTer?)
c.4301_4302dup (p.Gly1435LysfsTer?)
c.4292_4293dup (p.Gly1432LysfsTer?)
c.4283_4284dup (p.Gly1429LysfsTer?)
c.2621_2622dup (p.Gly875LysfsTer?)
Xg.108686100A>CCA413853732COL4A5c.4286A>C (p.Lys1429Thr)
c.4268A>C (p.Lys1423Thr)
n.780A>C
n.689A>C
c.82A>C
c.4277A>C (p.Lys1426Thr)
c.3962A>C (p.Lys1321Thr)
c.1859A>C (p.Lys620Thr)
c.4301A>C (p.Lys1434Thr)
c.4292A>C (p.Lys1431Thr)
c.4283A>C (p.Lys1428Thr)
c.2621A>C (p.Lys874Thr)
Xg.108686100A>GCA413853733COL4A5c.4286A>G (p.Lys1429Arg)
c.4268A>G (p.Lys1423Arg)
n.780A>G
n.689A>G
c.82A>G
c.4277A>G (p.Lys1426Arg)
c.3962A>G (p.Lys1321Arg)
c.1859A>G (p.Lys620Arg)
c.4301A>G (p.Lys1434Arg)
c.4292A>G (p.Lys1431Arg)
c.4283A>G (p.Lys1428Arg)
c.2621A>G (p.Lys874Arg)
 gnomAD v4
Xg.108686100A>TCA413853730COL4A5c.4286A>T (p.Lys1429Ile)
c.4268A>T (p.Lys1423Ile)
n.780A>T
n.689A>T
c.82A>T
c.4277A>T (p.Lys1426Ile)
c.3962A>T (p.Lys1321Ile)
c.1859A>T (p.Lys620Ile)
c.4301A>T (p.Lys1434Ile)
c.4292A>T (p.Lys1431Ile)
c.4283A>T (p.Lys1428Ile)
c.2621A>T (p.Lys874Ile)
Xg.108686101A=CA2450718777COL4A5c.4287A= (p.Lys1429=)
c.4269A= (p.Lys1423=)
n.781A=
n.690A=
c.83A=
c.4278A= (p.Lys1426=)
c.3963A= (p.Lys1321=)
c.1860A= (p.Lys620=)
c.4302A= (p.Lys1434=)
c.4293A= (p.Lys1431=)
c.4284A= (p.Lys1428=)
c.2622A= (p.Lys874=)
Xg.108686101A>CCA413853735COL4A5c.4287A>C (p.Lys1429Asn)
c.4269A>C (p.Lys1423Asn)
n.781A>C
n.690A>C
c.83A>C
c.4278A>C (p.Lys1426Asn)
c.3963A>C (p.Lys1321Asn)
c.1860A>C (p.Lys620Asn)
c.4302A>C (p.Lys1434Asn)
c.4293A>C (p.Lys1431Asn)
c.4284A>C (p.Lys1428Asn)
c.2622A>C (p.Lys874Asn)
Xg.108686101A>GCA10489331COL4A5c.4287A>G (p.Lys1429=)
c.4269A>G (p.Lys1423=)
n.781A>G
n.690A>G
c.83A>G
c.4278A>G (p.Lys1426=)
c.3963A>G (p.Lys1321=)
c.1860A>G (p.Lys620=)
c.4302A>G (p.Lys1434=)
c.4293A>G (p.Lys1431=)
c.4284A>G (p.Lys1428=)
c.2622A>G (p.Lys874=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108686101A>TCA413853738COL4A5c.4287A>T (p.Lys1429Asn)
c.4269A>T (p.Lys1423Asn)
n.781A>T
n.690A>T
c.83A>T
c.4278A>T (p.Lys1426Asn)
c.3963A>T (p.Lys1321Asn)
c.1860A>T (p.Lys620Asn)
c.4302A>T (p.Lys1434Asn)
c.4293A>T (p.Lys1431Asn)
c.4284A>T (p.Lys1428Asn)
c.2622A>T (p.Lys874Asn)
Xg.108686102G>ACA413853740COL4A5c.4288G>A (p.Gly1430Arg)
c.4270G>A (p.Gly1424Arg)
n.782G>A
n.691G>A
c.84G>A
c.4279G>A (p.Gly1427Arg)
c.3964G>A (p.Gly1322Arg)
c.1861G>A (p.Gly621Arg)
c.4303G>A (p.Gly1435Arg)
c.4294G>A (p.Gly1432Arg)
c.4285G>A (p.Gly1429Arg)
c.2623G>A (p.Gly875Arg)
Xg.108686102G>CCA413853742COL4A5c.4288G>C (p.Gly1430Arg)
c.4270G>C (p.Gly1424Arg)
n.782G>C
n.691G>C
c.84G>C
c.4279G>C (p.Gly1427Arg)
c.3964G>C (p.Gly1322Arg)
c.1861G>C (p.Gly621Arg)
c.4303G>C (p.Gly1435Arg)
c.4294G>C (p.Gly1432Arg)
c.4285G>C (p.Gly1429Arg)
c.2623G>C (p.Gly875Arg)
Xg.108686102G>TCA413853744COL4A5c.4288G>T (p.Gly1430Ter)
c.4270G>T (p.Gly1424Ter)
n.782G>T
n.691G>T
c.84G>T
c.4279G>T (p.Gly1427Ter)
c.3964G>T (p.Gly1322Ter)
c.1861G>T (p.Gly621Ter)
c.4303G>T (p.Gly1435Ter)
c.4294G>T (p.Gly1432Ter)
c.4285G>T (p.Gly1429Ter)
c.2623G>T (p.Gly875Ter)
Xg.108686103G>ACA261093COL4A5c.4289G>A (p.Gly1430Glu)
c.4271G>A (p.Gly1424Glu)
n.783G>A
n.692G>A
c.85G>A
c.4280G>A (p.Gly1427Glu)
c.3965G>A (p.Gly1322Glu)
c.1862G>A (p.Gly621Glu)
c.4304G>A (p.Gly1435Glu)
c.4295G>A (p.Gly1432Glu)
c.4286G>A (p.Gly1429Glu)
c.2624G>A (p.Gly875Glu)
 dbSNP
Xg.108686103G>CCA413853747COL4A5c.4289G>C (p.Gly1430Ala)
c.4271G>C (p.Gly1424Ala)
n.783G>C
n.692G>C
c.85G>C
c.4280G>C (p.Gly1427Ala)
c.3965G>C (p.Gly1322Ala)
c.1862G>C (p.Gly621Ala)
c.4304G>C (p.Gly1435Ala)
c.4295G>C (p.Gly1432Ala)
c.4286G>C (p.Gly1429Ala)
c.2624G>C (p.Gly875Ala)
Xg.108686103G=CA2450718778COL4A5c.4289G= (p.Gly1430=)
c.4271G= (p.Gly1424=)
n.783G=
n.692G=
c.85G=
c.4280G= (p.Gly1427=)
c.3965G= (p.Gly1322=)
c.1862G= (p.Gly621=)
c.4304G= (p.Gly1435=)
c.4295G= (p.Gly1432=)
c.4286G= (p.Gly1429=)
c.2624G= (p.Gly875=)
Xg.108686103G>TCA413853748COL4A5c.4289G>T (p.Gly1430Val)
c.4271G>T (p.Gly1424Val)
n.783G>T
n.692G>T
c.85G>T
c.4280G>T (p.Gly1427Val)
c.3965G>T (p.Gly1322Val)
c.1862G>T (p.Gly621Val)
c.4304G>T (p.Gly1435Val)
c.4295G>T (p.Gly1432Val)
c.4286G>T (p.Gly1429Val)
c.2624G>T (p.Gly875Val)
Xg.108686104A>CCA517924174COL4A5c.4290A>C (p.Gly1430=)
c.4272A>C (p.Gly1424=)
n.784A>C
n.693A>C
c.86A>C
c.4281A>C (p.Gly1427=)
c.3966A>C (p.Gly1322=)
c.1863A>C (p.Gly621=)
c.4305A>C (p.Gly1435=)
c.4296A>C (p.Gly1432=)
c.4287A>C (p.Gly1429=)
c.2625A>C (p.Gly875=)
Xg.108686104A>GCA517924176COL4A5c.4290A>G (p.Gly1430=)
c.4272A>G (p.Gly1424=)
n.784A>G
n.693A>G
c.86A>G
c.4281A>G (p.Gly1427=)
c.3966A>G (p.Gly1322=)
c.1863A>G (p.Gly621=)
c.4305A>G (p.Gly1435=)
c.4296A>G (p.Gly1432=)
c.4287A>G (p.Gly1429=)
c.2625A>G (p.Gly875=)
Xg.108686104A>TCA517924175COL4A5c.4290A>T (p.Gly1430=)
c.4272A>T (p.Gly1424=)
n.784A>T
n.693A>T
c.86A>T
c.4281A>T (p.Gly1427=)
c.3966A>T (p.Gly1322=)
c.1863A>T (p.Gly621=)
c.4305A>T (p.Gly1435=)
c.4296A>T (p.Gly1432=)
c.4287A>T (p.Gly1429=)
c.2625A>T (p.Gly875=)
Xg.108686104_108686111delinsAGACCCAGCA2450718779COL4A5c.4290_4297delinsAGACCCAG (p.Gly1430=)
c.4272_4279delinsAGACCCAG (p.Gly1424=)
n.784_791delinsAGACCCAG
n.693_700delinsAGACCCAG
c.86_93delinsAGACCCAG
c.4281_4288delinsAGACCCAG (p.Gly1427=)
c.3966_3973delinsAGACCCAG (p.Gly1322=)
c.1863_1870delinsAGACCCAG (p.Gly621=)
c.4305_4312delinsAGACCCAG (p.Gly1435=)
c.4296_4303delinsAGACCCAG (p.Gly1432=)
c.4287_4294delinsAGACCCAG (p.Gly1429=)
c.2625_2632delinsAGACCCAG (p.Gly875=)
Xg.108686105G>ACA413853751COL4A5c.4291G>A (p.Asp1431Asn)
c.4273G>A (p.Asp1425Asn)
n.785G>A
n.694G>A
c.87G>A
c.4282G>A (p.Asp1428Asn)
c.3967G>A (p.Asp1323Asn)
c.1864G>A (p.Asp622Asn)
c.4306G>A (p.Asp1436Asn)
c.4297G>A (p.Asp1433Asn)
c.4288G>A (p.Asp1430Asn)
c.2626G>A (p.Asp876Asn)
Xg.108686105G>CCA413853753COL4A5c.4291G>C (p.Asp1431His)
c.4273G>C (p.Asp1425His)
n.785G>C
n.694G>C
c.87G>C
c.4282G>C (p.Asp1428His)
c.3967G>C (p.Asp1323His)
c.1864G>C (p.Asp622His)
c.4306G>C (p.Asp1436His)
c.4297G>C (p.Asp1433His)
c.4288G>C (p.Asp1430His)
c.2626G>C (p.Asp876His)
Xg.108686105G>TCA413853754COL4A5c.4291G>T (p.Asp1431Tyr)
c.4273G>T (p.Asp1425Tyr)
n.785G>T
n.694G>T
c.87G>T
c.4282G>T (p.Asp1428Tyr)
c.3967G>T (p.Asp1323Tyr)
c.1864G>T (p.Asp622Tyr)
c.4306G>T (p.Asp1436Tyr)
c.4297G>T (p.Asp1433Tyr)
c.4288G>T (p.Asp1430Tyr)
c.2626G>T (p.Asp876Tyr)
Xg.108686105_108686111delinsCTCA2450718780COL4A5c.4291_4297delinsCT (p.Asp1431LeufsTer?)
c.4273_4279delinsCT (p.Asp1425LeufsTer?)
n.785_791delinsCT
n.694_700delinsCT
c.87_93delinsCT
c.4282_4288delinsCT (p.Asp1428LeufsTer?)
c.3967_3973delinsCT (p.Asp1323LeufsTer?)
c.1864_1870delinsCT (p.Asp622LeufsTer?)
c.4306_4312delinsCT (p.Asp1436LeufsTer?)
c.4297_4303delinsCT (p.Asp1433LeufsTer?)
c.4288_4294delinsCT (p.Asp1430LeufsTer?)
c.2626_2632delinsCT (p.Asp876LeufsTer?)
 ClinVar dbSNP
Xg.108686106A=CA2450718781COL4A5c.4292A= (p.Asp1431=)
c.4274A= (p.Asp1425=)
n.786A=
n.695A=
c.88A=
c.4283A= (p.Asp1428=)
c.3968A= (p.Asp1323=)
c.1865A= (p.Asp622=)
c.4307A= (p.Asp1436=)
c.4298A= (p.Asp1433=)
c.4289A= (p.Asp1430=)
c.2627A= (p.Asp876=)
Xg.108686106A>CCA413853758COL4A5c.4292A>C (p.Asp1431Ala)
c.4274A>C (p.Asp1425Ala)
n.786A>C
n.695A>C
c.88A>C
c.4283A>C (p.Asp1428Ala)
c.3968A>C (p.Asp1323Ala)
c.1865A>C (p.Asp622Ala)
c.4307A>C (p.Asp1436Ala)
c.4298A>C (p.Asp1433Ala)
c.4289A>C (p.Asp1430Ala)
c.2627A>C (p.Asp876Ala)
Xg.108686106A>GCA413853760COL4A5c.4292A>G (p.Asp1431Gly)
c.4274A>G (p.Asp1425Gly)
n.786A>G
n.695A>G
c.88A>G
c.4283A>G (p.Asp1428Gly)
c.3968A>G (p.Asp1323Gly)
c.1865A>G (p.Asp622Gly)
c.4307A>G (p.Asp1436Gly)
c.4298A>G (p.Asp1433Gly)
c.4289A>G (p.Asp1430Gly)
c.2627A>G (p.Asp876Gly)
Xg.108686106A>TCA10489332COL4A5c.4292A>T (p.Asp1431Val)
c.4274A>T (p.Asp1425Val)
n.786A>T
n.695A>T
c.88A>T
c.4283A>T (p.Asp1428Val)
c.3968A>T (p.Asp1323Val)
c.1865A>T (p.Asp622Val)
c.4307A>T (p.Asp1436Val)
c.4298A>T (p.Asp1433Val)
c.4289A>T (p.Asp1430Val)
c.2627A>T (p.Asp876Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686107C>ACA413853763COL4A5c.4293C>A (p.Asp1431Glu)
c.4275C>A (p.Asp1425Glu)
n.787C>A
n.696C>A
c.89C>A
c.4284C>A (p.Asp1428Glu)
c.3969C>A (p.Asp1323Glu)
c.1866C>A (p.Asp622Glu)
c.4308C>A (p.Asp1436Glu)
c.4299C>A (p.Asp1433Glu)
c.4290C>A (p.Asp1430Glu)
c.2628C>A (p.Asp876Glu)
Xg.108686107C=CA2450718782COL4A5c.4293C= (p.Asp1431=)
c.4275C= (p.Asp1425=)
n.787C=
n.696C=
c.89C=
c.4284C= (p.Asp1428=)
c.3969C= (p.Asp1323=)
c.1866C= (p.Asp622=)
c.4308C= (p.Asp1436=)
c.4299C= (p.Asp1433=)
c.4290C= (p.Asp1430=)
c.2628C= (p.Asp876=)
Xg.108686107C>GCA413853764COL4A5c.4293C>G (p.Asp1431Glu)
c.4275C>G (p.Asp1425Glu)
n.787C>G
n.696C>G
c.89C>G
c.4284C>G (p.Asp1428Glu)
c.3969C>G (p.Asp1323Glu)
c.1866C>G (p.Asp622Glu)
c.4308C>G (p.Asp1436Glu)
c.4299C>G (p.Asp1433Glu)
c.4290C>G (p.Asp1430Glu)
c.2628C>G (p.Asp876Glu)
 COSMIC COSMIC
Xg.108686107C>TCA259012COL4A5c.4293C>T (p.Asp1431=)
c.4275C>T (p.Asp1425=)
n.787C>T
n.696C>T
c.89C>T
c.4284C>T (p.Asp1428=)
c.3969C>T (p.Asp1323=)
c.1866C>T (p.Asp622=)
c.4308C>T (p.Asp1436=)
c.4299C>T (p.Asp1433=)
c.4290C>T (p.Asp1430=)
c.2628C>T (p.Asp876=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686109delCA2695235232COL4A5c.4295del (p.Pro1432GlnfsTer?)
c.4277del (p.Pro1426GlnfsTer?)
n.789del
n.698del
c.91del
c.4286del (p.Pro1429GlnfsTer?)
c.3971del (p.Pro1324GlnfsTer?)
c.1868del (p.Pro623GlnfsTer?)
c.4310del (p.Pro1437GlnfsTer?)
c.4301del (p.Pro1434GlnfsTer?)
c.4292del (p.Pro1431GlnfsTer?)
c.2630del (p.Pro877GlnfsTer?)
Xg.108686108C>ACA413853767COL4A5c.4294C>A (p.Pro1432Thr)
c.4276C>A (p.Pro1426Thr)
n.788C>A
n.697C>A
c.90C>A
c.4285C>A (p.Pro1429Thr)
c.3970C>A (p.Pro1324Thr)
c.1867C>A (p.Pro623Thr)
c.4309C>A (p.Pro1437Thr)
c.4300C>A (p.Pro1434Thr)
c.4291C>A (p.Pro1431Thr)
c.2629C>A (p.Pro877Thr)
 gnomAD v4
Xg.108686108C>GCA413853768COL4A5c.4294C>G (p.Pro1432Ala)
c.4276C>G (p.Pro1426Ala)
n.788C>G
n.697C>G
c.90C>G
c.4285C>G (p.Pro1429Ala)
c.3970C>G (p.Pro1324Ala)
c.1867C>G (p.Pro623Ala)
c.4309C>G (p.Pro1437Ala)
c.4300C>G (p.Pro1434Ala)
c.4291C>G (p.Pro1431Ala)
c.2629C>G (p.Pro877Ala)
 gnomAD v4
Xg.108686108C>TCA413853769COL4A5c.4294C>T (p.Pro1432Ser)
c.4276C>T (p.Pro1426Ser)
n.788C>T
n.697C>T
c.90C>T
c.4285C>T (p.Pro1429Ser)
c.3970C>T (p.Pro1324Ser)
c.1867C>T (p.Pro623Ser)
c.4309C>T (p.Pro1437Ser)
c.4300C>T (p.Pro1434Ser)
c.4291C>T (p.Pro1431Ser)
c.2629C>T (p.Pro877Ser)

Number of alleles fetched