Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108680830G>ACA2694442721COL4A5c.4016-55G>A (n.4016-55G>A)
c.3998-55G>A (n.3998-55G>A)
n.510-55G>A
n.419-55G>A
c.4007-55G>A (n.4007-55G>A)
c.3692-55G>A (n.3692-55G>A)
c.1589-55G>A (n.1589-55G>A)
c.4031-55G>A (n.4031-55G>A)
c.4022-55G>A (n.4022-55G>A)
c.4013-55G>A (n.4013-55G>A)
c.2351-55G>A (n.2351-55G>A)
 gnomAD v4
Xg.108680832A>GCA2694442722COL4A5c.4016-53A>G (n.4016-53A>G)
c.3998-53A>G (n.3998-53A>G)
n.510-53A>G
n.419-53A>G
c.4007-53A>G (n.4007-53A>G)
c.3692-53A>G (n.3692-53A>G)
c.1589-53A>G (n.1589-53A>G)
c.4031-53A>G (n.4031-53A>G)
c.4022-53A>G (n.4022-53A>G)
c.4013-53A>G (n.4013-53A>G)
c.2351-53A>G (n.2351-53A>G)
 gnomAD v4
Xg.108680834A>GCA2694442723COL4A5c.4016-51A>G (n.4016-51A>G)
c.3998-51A>G (n.3998-51A>G)
n.510-51A>G
n.419-51A>G
c.4007-51A>G (n.4007-51A>G)
c.3692-51A>G (n.3692-51A>G)
c.1589-51A>G (n.1589-51A>G)
c.4031-51A>G (n.4031-51A>G)
c.4022-51A>G (n.4022-51A>G)
c.4013-51A>G (n.4013-51A>G)
c.2351-51A>G (n.2351-51A>G)
 gnomAD v4
Xg.108680836G=CA2450716882COL4A5c.4016-49G= (n.4016-49G=)
c.3998-49G= (n.3998-49G=)
n.510-49G=
n.419-49G=
c.4007-49G= (n.4007-49G=)
c.3692-49G= (n.3692-49G=)
c.1589-49G= (n.1589-49G=)
c.4031-49G= (n.4031-49G=)
c.4022-49G= (n.4022-49G=)
c.4013-49G= (n.4013-49G=)
c.2351-49G= (n.2351-49G=)
Xg.108680836G>TCA10489271COL4A5c.4016-49G>T (n.4016-49G>T)
c.3998-49G>T (n.3998-49G>T)
n.510-49G>T
n.419-49G>T
c.4007-49G>T (n.4007-49G>T)
c.3692-49G>T (n.3692-49G>T)
c.1589-49G>T (n.1589-49G>T)
c.4031-49G>T (n.4031-49G>T)
c.4022-49G>T (n.4022-49G>T)
c.4013-49G>T (n.4013-49G>T)
c.2351-49G>T (n.2351-49G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108680837_108680844dupCA2694442724COL4A5c.4016-48_4016-41dup (n.4016-48_4016-41dup)
c.3998-48_3998-41dup (n.3998-48_3998-41dup)
n.510-48_510-41dup
n.419-48_419-41dup
c.4007-48_4007-41dup (n.4007-48_4007-41dup)
c.3692-48_3692-41dup (n.3692-48_3692-41dup)
c.1589-48_1589-41dup (n.1589-48_1589-41dup)
c.4031-48_4031-41dup (n.4031-48_4031-41dup)
c.4022-48_4022-41dup (n.4022-48_4022-41dup)
c.4013-48_4013-41dup (n.4013-48_4013-41dup)
c.2351-48_2351-41dup (n.2351-48_2351-41dup)
 gnomAD v4
Xg.108680839G>ACA643637003COL4A5c.4016-46G>A (n.4016-46G>A)
c.3998-46G>A (n.3998-46G>A)
n.510-46G>A
n.419-46G>A
c.4007-46G>A (n.4007-46G>A)
c.3692-46G>A (n.3692-46G>A)
c.1589-46G>A (n.1589-46G>A)
c.4031-46G>A (n.4031-46G>A)
c.4022-46G>A (n.4022-46G>A)
c.4013-46G>A (n.4013-46G>A)
c.2351-46G>A (n.2351-46G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108680839G=CA2450716883COL4A5c.4016-46G= (n.4016-46G=)
c.3998-46G= (n.3998-46G=)
n.510-46G=
n.419-46G=
c.4007-46G= (n.4007-46G=)
c.3692-46G= (n.3692-46G=)
c.1589-46G= (n.1589-46G=)
c.4031-46G= (n.4031-46G=)
c.4022-46G= (n.4022-46G=)
c.4013-46G= (n.4013-46G=)
c.2351-46G= (n.2351-46G=)
Xg.108680839_108680840insCTTTGCCACA2694442725COL4A5c.4016-46_4016-45insCTTTGCCA (n.4016-46_4016-45insCTTTGCCA)
c.3998-46_3998-45insCTTTGCCA (n.3998-46_3998-45insCTTTGCCA)
n.510-46_510-45insCTTTGCCA
n.419-46_419-45insCTTTGCCA
c.4007-46_4007-45insCTTTGCCA (n.4007-46_4007-45insCTTTGCCA)
c.3692-46_3692-45insCTTTGCCA (n.3692-46_3692-45insCTTTGCCA)
c.1589-46_1589-45insCTTTGCCA (n.1589-46_1589-45insCTTTGCCA)
c.4031-46_4031-45insCTTTGCCA (n.4031-46_4031-45insCTTTGCCA)
c.4022-46_4022-45insCTTTGCCA (n.4022-46_4022-45insCTTTGCCA)
c.4013-46_4013-45insCTTTGCCA (n.4013-46_4013-45insCTTTGCCA)
c.2351-46_2351-45insCTTTGCCA (n.2351-46_2351-45insCTTTGCCA)
 gnomAD v4
Xg.108680840T>CCA2694442726COL4A5c.4016-45T>C (n.4016-45T>C)
c.3998-45T>C (n.3998-45T>C)
n.510-45T>C
n.419-45T>C
c.4007-45T>C (n.4007-45T>C)
c.3692-45T>C (n.3692-45T>C)
c.1589-45T>C (n.1589-45T>C)
c.4031-45T>C (n.4031-45T>C)
c.4022-45T>C (n.4022-45T>C)
c.4013-45T>C (n.4013-45T>C)
c.2351-45T>C (n.2351-45T>C)
 gnomAD v4
Xg.108680841A>GCA2579677068COL4A5c.4016-44A>G (n.4016-44A>G)
c.3998-44A>G (n.3998-44A>G)
n.510-44A>G
n.419-44A>G
c.4007-44A>G (n.4007-44A>G)
c.3692-44A>G (n.3692-44A>G)
c.1589-44A>G (n.1589-44A>G)
c.4031-44A>G (n.4031-44A>G)
c.4022-44A>G (n.4022-44A>G)
c.4013-44A>G (n.4013-44A>G)
c.2351-44A>G (n.2351-44A>G)
Xg.108680841_108680842insAACTCA2694442727COL4A5c.4016-44_4016-43insAACT (n.4016-44_4016-43insAACT)
c.3998-44_3998-43insAACT (n.3998-44_3998-43insAACT)
n.510-44_510-43insAACT
n.419-44_419-43insAACT
c.4007-44_4007-43insAACT (n.4007-44_4007-43insAACT)
c.3692-44_3692-43insAACT (n.3692-44_3692-43insAACT)
c.1589-44_1589-43insAACT (n.1589-44_1589-43insAACT)
c.4031-44_4031-43insAACT (n.4031-44_4031-43insAACT)
c.4022-44_4022-43insAACT (n.4022-44_4022-43insAACT)
c.4013-44_4013-43insAACT (n.4013-44_4013-43insAACT)
c.2351-44_2351-43insAACT (n.2351-44_2351-43insAACT)
 gnomAD v4
Xg.108680844C>ACA2579677069COL4A5c.4016-41C>A (n.4016-41C>A)
c.3998-41C>A (n.3998-41C>A)
n.510-41C>A
n.419-41C>A
c.4007-41C>A (n.4007-41C>A)
c.3692-41C>A (n.3692-41C>A)
c.1589-41C>A (n.1589-41C>A)
c.4031-41C>A (n.4031-41C>A)
c.4022-41C>A (n.4022-41C>A)
c.4013-41C>A (n.4013-41C>A)
c.2351-41C>A (n.2351-41C>A)
Xg.108680847G>ACA1136193065COL4A5c.4016-38G>A (n.4016-38G>A)
c.3998-38G>A (n.3998-38G>A)
n.510-38G>A
n.419-38G>A
c.4007-38G>A (n.4007-38G>A)
c.3692-38G>A (n.3692-38G>A)
c.1589-38G>A (n.1589-38G>A)
c.4031-38G>A (n.4031-38G>A)
c.4022-38G>A (n.4022-38G>A)
c.4013-38G>A (n.4013-38G>A)
c.2351-38G>A (n.2351-38G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108680847G=CA2450716884COL4A5c.4016-38G= (n.4016-38G=)
c.3998-38G= (n.3998-38G=)
n.510-38G=
n.419-38G=
c.4007-38G= (n.4007-38G=)
c.3692-38G= (n.3692-38G=)
c.1589-38G= (n.1589-38G=)
c.4031-38G= (n.4031-38G=)
c.4022-38G= (n.4022-38G=)
c.4013-38G= (n.4013-38G=)
c.2351-38G= (n.2351-38G=)
Xg.108680850G>CCA334054684COL4A5c.4016-35G>C (n.4016-35G>C)
c.3998-35G>C (n.3998-35G>C)
n.510-35G>C
n.419-35G>C
c.4007-35G>C (n.4007-35G>C)
c.3692-35G>C (n.3692-35G>C)
c.1589-35G>C (n.1589-35G>C)
c.4031-35G>C (n.4031-35G>C)
c.4022-35G>C (n.4022-35G>C)
c.4013-35G>C (n.4013-35G>C)
c.2351-35G>C (n.2351-35G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108680850G=CA2450716885COL4A5c.4016-35G= (n.4016-35G=)
c.3998-35G= (n.3998-35G=)
n.510-35G=
n.419-35G=
c.4007-35G= (n.4007-35G=)
c.3692-35G= (n.3692-35G=)
c.1589-35G= (n.1589-35G=)
c.4031-35G= (n.4031-35G=)
c.4022-35G= (n.4022-35G=)
c.4013-35G= (n.4013-35G=)
c.2351-35G= (n.2351-35G=)
Xg.108680851C=CA2450716886COL4A5c.4016-34C= (n.4016-34C=)
c.3998-34C= (n.3998-34C=)
n.510-34C=
n.419-34C=
c.4007-34C= (n.4007-34C=)
c.3692-34C= (n.3692-34C=)
c.1589-34C= (n.1589-34C=)
c.4031-34C= (n.4031-34C=)
c.4022-34C= (n.4022-34C=)
c.4013-34C= (n.4013-34C=)
c.2351-34C= (n.2351-34C=)
Xg.108680851C>TCA643637004COL4A5c.4016-34C>T (n.4016-34C>T)
c.3998-34C>T (n.3998-34C>T)
n.510-34C>T
n.419-34C>T
c.4007-34C>T (n.4007-34C>T)
c.3692-34C>T (n.3692-34C>T)
c.1589-34C>T (n.1589-34C>T)
c.4031-34C>T (n.4031-34C>T)
c.4022-34C>T (n.4022-34C>T)
c.4013-34C>T (n.4013-34C>T)
c.2351-34C>T (n.2351-34C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108680854delCA2579677070COL4A5c.4016-31del (n.4016-31del)
c.3998-31del (n.3998-31del)
n.510-31del
n.419-31del
c.4007-31del (n.4007-31del)
c.3692-31del (n.3692-31del)
c.1589-31del (n.1589-31del)
c.4031-31del (n.4031-31del)
c.4022-31del (n.4022-31del)
c.4013-31del (n.4013-31del)
c.2351-31del (n.2351-31del)
Xg.108680855G>CCA2694442728COL4A5c.4016-30G>C (n.4016-30G>C)
c.3998-30G>C (n.3998-30G>C)
n.510-30G>C
n.419-30G>C
c.4007-30G>C (n.4007-30G>C)
c.3692-30G>C (n.3692-30G>C)
c.1589-30G>C (n.1589-30G>C)
c.4031-30G>C (n.4031-30G>C)
c.4022-30G>C (n.4022-30G>C)
c.4013-30G>C (n.4013-30G>C)
c.2351-30G>C (n.2351-30G>C)
 gnomAD v4
Xg.108680855G>TCA2521196838COL4A5c.4016-30G>T (n.4016-30G>T)
c.3998-30G>T (n.3998-30G>T)
n.510-30G>T
n.419-30G>T
c.4007-30G>T (n.4007-30G>T)
c.3692-30G>T (n.3692-30G>T)
c.1589-30G>T (n.1589-30G>T)
c.4031-30G>T (n.4031-30G>T)
c.4022-30G>T (n.4022-30G>T)
c.4013-30G>T (n.4013-30G>T)
c.2351-30G>T (n.2351-30G>T)
Xg.108680856C>ACA2450716888COL4A5c.4016-29C>A (n.4016-29C>A)
c.3998-29C>A (n.3998-29C>A)
n.510-29C>A
n.419-29C>A
c.4007-29C>A (n.4007-29C>A)
c.3692-29C>A (n.3692-29C>A)
c.1589-29C>A (n.1589-29C>A)
c.4031-29C>A (n.4031-29C>A)
c.4022-29C>A (n.4022-29C>A)
c.4013-29C>A (n.4013-29C>A)
c.2351-29C>A (n.2351-29C>A)
 dbSNP gnomAD v4
Xg.108680856C=CA2450716887COL4A5c.4016-29C= (n.4016-29C=)
c.3998-29C= (n.3998-29C=)
n.510-29C=
n.419-29C=
c.4007-29C= (n.4007-29C=)
c.3692-29C= (n.3692-29C=)
c.1589-29C= (n.1589-29C=)
c.4031-29C= (n.4031-29C=)
c.4022-29C= (n.4022-29C=)
c.4013-29C= (n.4013-29C=)
c.2351-29C= (n.2351-29C=)
Xg.108680857C>ACA2694442729COL4A5c.4016-28C>A (n.4016-28C>A)
c.3998-28C>A (n.3998-28C>A)
n.510-28C>A
n.419-28C>A
c.4007-28C>A (n.4007-28C>A)
c.3692-28C>A (n.3692-28C>A)
c.1589-28C>A (n.1589-28C>A)
c.4031-28C>A (n.4031-28C>A)
c.4022-28C>A (n.4022-28C>A)
c.4013-28C>A (n.4013-28C>A)
c.2351-28C>A (n.2351-28C>A)
 gnomAD v4
Xg.108680857C>TCA2542764238COL4A5c.4016-28C>T (n.4016-28C>T)
c.3998-28C>T (n.3998-28C>T)
n.510-28C>T
n.419-28C>T
c.4007-28C>T (n.4007-28C>T)
c.3692-28C>T (n.3692-28C>T)
c.1589-28C>T (n.1589-28C>T)
c.4031-28C>T (n.4031-28C>T)
c.4022-28C>T (n.4022-28C>T)
c.4013-28C>T (n.4013-28C>T)
c.2351-28C>T (n.2351-28C>T)
 gnomAD v4
Xg.108680858A>GCA2579677071COL4A5c.4016-27A>G (n.4016-27A>G)
c.3998-27A>G (n.3998-27A>G)
n.510-27A>G
n.419-27A>G
c.4007-27A>G (n.4007-27A>G)
c.3692-27A>G (n.3692-27A>G)
c.1589-27A>G (n.1589-27A>G)
c.4031-27A>G (n.4031-27A>G)
c.4022-27A>G (n.4022-27A>G)
c.4013-27A>G (n.4013-27A>G)
c.2351-27A>G (n.2351-27A>G)
 gnomAD v4
Xg.108680860A=CA2450716889COL4A5c.4016-25A= (n.4016-25A=)
c.3998-25A= (n.3998-25A=)
n.510-25A=
n.419-25A=
c.4007-25A= (n.4007-25A=)
c.3692-25A= (n.3692-25A=)
c.1589-25A= (n.1589-25A=)
c.4031-25A= (n.4031-25A=)
c.4022-25A= (n.4022-25A=)
c.4013-25A= (n.4013-25A=)
c.2351-25A= (n.2351-25A=)
Xg.108680860A>GCA1136193068COL4A5c.4016-25A>G (n.4016-25A>G)
c.3998-25A>G (n.3998-25A>G)
n.510-25A>G
n.419-25A>G
c.4007-25A>G (n.4007-25A>G)
c.3692-25A>G (n.3692-25A>G)
c.1589-25A>G (n.1589-25A>G)
c.4031-25A>G (n.4031-25A>G)
c.4022-25A>G (n.4022-25A>G)
c.4013-25A>G (n.4013-25A>G)
c.2351-25A>G (n.2351-25A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108680863delCA2579677072COL4A5c.4016-22del (n.4016-22del)
c.3998-22del (n.3998-22del)
n.510-22del
n.419-22del
c.4007-22del (n.4007-22del)
c.3692-22del (n.3692-22del)
c.1589-22del (n.1589-22del)
c.4031-22del (n.4031-22del)
c.4022-22del (n.4022-22del)
c.4013-22del (n.4013-22del)
c.2351-22del (n.2351-22del)
Xg.108680862A>CCA2694442730COL4A5c.4016-23A>C (n.4016-23A>C)
c.3998-23A>C (n.3998-23A>C)
n.510-23A>C
n.419-23A>C
c.4007-23A>C (n.4007-23A>C)
c.3692-23A>C (n.3692-23A>C)
c.1589-23A>C (n.1589-23A>C)
c.4031-23A>C (n.4031-23A>C)
c.4022-23A>C (n.4022-23A>C)
c.4013-23A>C (n.4013-23A>C)
c.2351-23A>C (n.2351-23A>C)
 gnomAD v4
Xg.108680864C>TCA2579677073COL4A5c.4016-21C>T (n.4016-21C>T)
c.3998-21C>T (n.3998-21C>T)
n.510-21C>T
n.419-21C>T
c.4007-21C>T (n.4007-21C>T)
c.3692-21C>T (n.3692-21C>T)
c.1589-21C>T (n.1589-21C>T)
c.4031-21C>T (n.4031-21C>T)
c.4022-21C>T (n.4022-21C>T)
c.4013-21C>T (n.4013-21C>T)
c.2351-21C>T (n.2351-21C>T)
Xg.108680865T>CCA2697544692COL4A5c.4016-20T>C (n.4016-20T>C)
c.3998-20T>C (n.3998-20T>C)
n.510-20T>C
n.419-20T>C
c.4007-20T>C (n.4007-20T>C)
c.3692-20T>C (n.3692-20T>C)
c.1589-20T>C (n.1589-20T>C)
c.4031-20T>C (n.4031-20T>C)
c.4022-20T>C (n.4022-20T>C)
c.4013-20T>C (n.4013-20T>C)
c.2351-20T>C (n.2351-20T>C)
 ClinVar
Xg.108680866G=CA2450716890COL4A5c.4016-19G= (n.4016-19G=)
c.3998-19G= (n.3998-19G=)
n.510-19G=
n.419-19G=
c.4007-19G= (n.4007-19G=)
c.3692-19G= (n.3692-19G=)
c.1589-19G= (n.1589-19G=)
c.4031-19G= (n.4031-19G=)
c.4022-19G= (n.4022-19G=)
c.4013-19G= (n.4013-19G=)
c.2351-19G= (n.2351-19G=)
Xg.108680867dupCA10489272COL4A5c.4016-18dup (n.4016-18dup)
c.3998-18dup (n.3998-18dup)
n.510-18dup
n.419-18dup
c.4007-18dup (n.4007-18dup)
c.3692-18dup (n.3692-18dup)
c.1589-18dup (n.1589-18dup)
c.4031-18dup (n.4031-18dup)
c.4022-18dup (n.4022-18dup)
c.4013-18dup (n.4013-18dup)
c.2351-18dup (n.2351-18dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108680868A>GCA658426996COL4A5c.4016-17A>G (n.4016-17A>G)
c.3998-17A>G (n.3998-17A>G)
n.510-17A>G
n.419-17A>G
c.4007-17A>G (n.4007-17A>G)
c.3692-17A>G (n.3692-17A>G)
c.1589-17A>G (n.1589-17A>G)
c.4031-17A>G (n.4031-17A>G)
c.4022-17A>G (n.4022-17A>G)
c.4013-17A>G (n.4013-17A>G)
c.2351-17A>G (n.2351-17A>G)
 ClinVar gnomAD v4 COSMIC
Xg.108680869T>GCA10489273COL4A5c.4016-16T>G (n.4016-16T>G)
c.3998-16T>G (n.3998-16T>G)
n.510-16T>G
n.419-16T>G
c.4007-16T>G (n.4007-16T>G)
c.3692-16T>G (n.3692-16T>G)
c.1589-16T>G (n.1589-16T>G)
c.4031-16T>G (n.4031-16T>G)
c.4022-16T>G (n.4022-16T>G)
c.4013-16T>G (n.4013-16T>G)
c.2351-16T>G (n.2351-16T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108680869T=CA2450716891COL4A5c.4016-16T= (n.4016-16T=)
c.3998-16T= (n.3998-16T=)
n.510-16T=
n.419-16T=
c.4007-16T= (n.4007-16T=)
c.3692-16T= (n.3692-16T=)
c.1589-16T= (n.1589-16T=)
c.4031-16T= (n.4031-16T=)
c.4022-16T= (n.4022-16T=)
c.4013-16T= (n.4013-16T=)
c.2351-16T= (n.2351-16T=)
Xg.108680870G>ACA10489274COL4A5c.4016-15G>A (n.4016-15G>A)
c.3998-15G>A (n.3998-15G>A)
n.510-15G>A
n.419-15G>A
c.4007-15G>A (n.4007-15G>A)
c.3692-15G>A (n.3692-15G>A)
c.1589-15G>A (n.1589-15G>A)
c.4031-15G>A (n.4031-15G>A)
c.4022-15G>A (n.4022-15G>A)
c.4013-15G>A (n.4013-15G>A)
c.2351-15G>A (n.2351-15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108680870G=CA2450716892COL4A5c.4016-15G= (n.4016-15G=)
c.3998-15G= (n.3998-15G=)
n.510-15G=
n.419-15G=
c.4007-15G= (n.4007-15G=)
c.3692-15G= (n.3692-15G=)
c.1589-15G= (n.1589-15G=)
c.4031-15G= (n.4031-15G=)
c.4022-15G= (n.4022-15G=)
c.4013-15G= (n.4013-15G=)
c.2351-15G= (n.2351-15G=)
Xg.108680871T>ACA2694442732COL4A5c.4016-14T>A (n.4016-14T>A)
c.3998-14T>A (n.3998-14T>A)
n.510-14T>A
n.419-14T>A
c.4007-14T>A (n.4007-14T>A)
c.3692-14T>A (n.3692-14T>A)
c.1589-14T>A (n.1589-14T>A)
c.4031-14T>A (n.4031-14T>A)
c.4022-14T>A (n.4022-14T>A)
c.4013-14T>A (n.4013-14T>A)
c.2351-14T>A (n.2351-14T>A)
 gnomAD v4
Xg.108680871T>CCA2697544693COL4A5c.4016-14T>C (n.4016-14T>C)
c.3998-14T>C (n.3998-14T>C)
n.510-14T>C
n.419-14T>C
c.4007-14T>C (n.4007-14T>C)
c.3692-14T>C (n.3692-14T>C)
c.1589-14T>C (n.1589-14T>C)
c.4031-14T>C (n.4031-14T>C)
c.4022-14T>C (n.4022-14T>C)
c.4013-14T>C (n.4013-14T>C)
c.2351-14T>C (n.2351-14T>C)
 ClinVar
Xg.108680872A=CA2450716893COL4A5c.4016-13A= (n.4016-13A=)
c.3998-13A= (n.3998-13A=)
n.510-13A=
n.419-13A=
c.4007-13A= (n.4007-13A=)
c.3692-13A= (n.3692-13A=)
c.1589-13A= (n.1589-13A=)
c.4031-13A= (n.4031-13A=)
c.4022-13A= (n.4022-13A=)
c.4013-13A= (n.4013-13A=)
c.2351-13A= (n.2351-13A=)
Xg.108680872A>GCA10489275COL4A5c.4016-13A>G (n.4016-13A>G)
c.3998-13A>G (n.3998-13A>G)
n.510-13A>G
n.419-13A>G
c.4007-13A>G (n.4007-13A>G)
c.3692-13A>G (n.3692-13A>G)
c.1589-13A>G (n.1589-13A>G)
c.4031-13A>G (n.4031-13A>G)
c.4022-13A>G (n.4022-13A>G)
c.4013-13A>G (n.4013-13A>G)
c.2351-13A>G (n.2351-13A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108680873C>ACA2579677074COL4A5c.4016-12C>A (n.4016-12C>A)
c.3998-12C>A (n.3998-12C>A)
n.510-12C>A
n.419-12C>A
c.4007-12C>A (n.4007-12C>A)
c.3692-12C>A (n.3692-12C>A)
c.1589-12C>A (n.1589-12C>A)
c.4031-12C>A (n.4031-12C>A)
c.4022-12C>A (n.4022-12C>A)
c.4013-12C>A (n.4013-12C>A)
c.2351-12C>A (n.2351-12C>A)
Xg.108680874_108680875delinsCTCA2450716894COL4A5c.4016-11_4016-10delinsCT (n.4016-11_4016-10delinsCT)
c.3998-11_3998-10delinsCT (n.3998-11_3998-10delinsCT)
n.510-11_510-10delinsCT
n.419-11_419-10delinsCT
c.4007-11_4007-10delinsCT (n.4007-11_4007-10delinsCT)
c.3692-11_3692-10delinsCT (n.3692-11_3692-10delinsCT)
c.1589-11_1589-10delinsCT (n.1589-11_1589-10delinsCT)
c.4031-11_4031-10delinsCT (n.4031-11_4031-10delinsCT)
c.4022-11_4022-10delinsCT (n.4022-11_4022-10delinsCT)
c.4013-11_4013-10delinsCT (n.4013-11_4013-10delinsCT)
c.2351-11_2351-10delinsCT (n.2351-11_2351-10delinsCT)
Xg.108680875T>GCA2694442733COL4A5c.4016-10T>G (n.4016-10T>G)
c.3998-10T>G (n.3998-10T>G)
n.510-10T>G
n.419-10T>G
c.4007-10T>G (n.4007-10T>G)
c.3692-10T>G (n.3692-10T>G)
c.1589-10T>G (n.1589-10T>G)
c.4031-10T>G (n.4031-10T>G)
c.4022-10T>G (n.4022-10T>G)
c.4013-10T>G (n.4013-10T>G)
c.2351-10T>G (n.2351-10T>G)
 gnomAD v4
Xg.108680876delCA10489276COL4A5c.4016-9del (n.4016-9del)
c.3998-9del (n.3998-9del)
n.510-9del
n.419-9del
c.4007-9del (n.4007-9del)
c.3692-9del (n.3692-9del)
c.1589-9del (n.1589-9del)
c.4031-9del (n.4031-9del)
c.4022-9del (n.4022-9del)
c.4013-9del (n.4013-9del)
c.2351-9del (n.2351-9del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108680878T>CCA643637005COL4A5c.4016-7T>C (n.4016-7T>C)
c.3998-7T>C (n.3998-7T>C)
n.510-7T>C
n.419-7T>C
c.4007-7T>C (n.4007-7T>C)
c.3692-7T>C (n.3692-7T>C)
c.1589-7T>C (n.1589-7T>C)
c.4031-7T>C (n.4031-7T>C)
c.4022-7T>C (n.4022-7T>C)
c.4013-7T>C (n.4013-7T>C)
c.2351-7T>C (n.2351-7T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108680878T=CA2450716895COL4A5c.4016-7T= (n.4016-7T=)
c.3998-7T= (n.3998-7T=)
n.510-7T=
n.419-7T=
c.4007-7T= (n.4007-7T=)
c.3692-7T= (n.3692-7T=)
c.1589-7T= (n.1589-7T=)
c.4031-7T= (n.4031-7T=)
c.4022-7T= (n.4022-7T=)
c.4013-7T= (n.4013-7T=)
c.2351-7T= (n.2351-7T=)
Xg.108680883delCA2573130300COL4A5c.4016-2del (n.4016-2del)
c.3998-2del (n.3998-2del)
n.510-2del
n.419-2del
c.4007-2del (n.4007-2del)
c.3692-2del (n.3692-2del)
c.1589-2del (n.1589-2del)
c.4031-2del (n.4031-2del)
c.4022-2del (n.4022-2del)
c.4013-2del (n.4013-2del)
c.2351-2del (n.2351-2del)
Xg.108680883A=CA2450716896COL4A5c.4016-2A= (n.4016-2A=)
c.3998-2A= (n.3998-2A=)
n.510-2A=
n.419-2A=
c.4007-2A= (n.4007-2A=)
c.3692-2A= (n.3692-2A=)
c.1589-2A= (n.1589-2A=)
c.4031-2A= (n.4031-2A=)
c.4022-2A= (n.4022-2A=)
c.4013-2A= (n.4013-2A=)
c.2351-2A= (n.2351-2A=)
Xg.108680883A>CCA413851086COL4A5c.4016-2A>C (n.4016-2A>C)
c.3998-2A>C (n.3998-2A>C)
n.510-2A>C
n.419-2A>C
c.4007-2A>C (n.4007-2A>C)
c.3692-2A>C (n.3692-2A>C)
c.1589-2A>C (n.1589-2A>C)
c.4031-2A>C (n.4031-2A>C)
c.4022-2A>C (n.4022-2A>C)
c.4013-2A>C (n.4013-2A>C)
c.2351-2A>C (n.2351-2A>C)
Xg.108680883A>GCA258977COL4A5c.4016-2A>G (n.4016-2A>G)
c.3998-2A>G (n.3998-2A>G)
n.510-2A>G
n.419-2A>G
c.4007-2A>G (n.4007-2A>G)
c.3692-2A>G (n.3692-2A>G)
c.1589-2A>G (n.1589-2A>G)
c.4031-2A>G (n.4031-2A>G)
c.4022-2A>G (n.4022-2A>G)
c.4013-2A>G (n.4013-2A>G)
c.2351-2A>G (n.2351-2A>G)
 dbSNP COSMIC
Xg.108680883A>TCA258976COL4A5c.4016-2A>T (n.4016-2A>T)
c.3998-2A>T (n.3998-2A>T)
n.510-2A>T
n.419-2A>T
c.4007-2A>T (n.4007-2A>T)
c.3692-2A>T (n.3692-2A>T)
c.1589-2A>T (n.1589-2A>T)
c.4031-2A>T (n.4031-2A>T)
c.4022-2A>T (n.4022-2A>T)
c.4013-2A>T (n.4013-2A>T)
c.2351-2A>T (n.2351-2A>T)
 dbSNP
Xg.108680884G>ACA276135COL4A5c.4016-1G>A (n.4016-1G>A)
c.3998-1G>A (n.3998-1G>A)
n.510-1G>A
n.419-1G>A
c.4007-1G>A (n.4007-1G>A)
c.3692-1G>A (n.3692-1G>A)
c.1589-1G>A (n.1589-1G>A)
c.4031-1G>A (n.4031-1G>A)
c.4022-1G>A (n.4022-1G>A)
c.4013-1G>A (n.4013-1G>A)
c.2351-1G>A (n.2351-1G>A)
 ClinVar dbSNP
Xg.108680884G>CCA413851087COL4A5c.4016-1G>C (n.4016-1G>C)
c.3998-1G>C (n.3998-1G>C)
n.510-1G>C
n.419-1G>C
c.4007-1G>C (n.4007-1G>C)
c.3692-1G>C (n.3692-1G>C)
c.1589-1G>C (n.1589-1G>C)
c.4031-1G>C (n.4031-1G>C)
c.4022-1G>C (n.4022-1G>C)
c.4013-1G>C (n.4013-1G>C)
c.2351-1G>C (n.2351-1G>C)
Xg.108680884G=CA2450716897COL4A5c.4016-1G= (n.4016-1G=)
c.3998-1G= (n.3998-1G=)
n.510-1G=
n.419-1G=
c.4007-1G= (n.4007-1G=)
c.3692-1G= (n.3692-1G=)
c.1589-1G= (n.1589-1G=)
c.4031-1G= (n.4031-1G=)
c.4022-1G= (n.4022-1G=)
c.4013-1G= (n.4013-1G=)
c.2351-1G= (n.2351-1G=)
Xg.108680884G>TCA413851088COL4A5c.4016-1G>T (n.4016-1G>T)
c.3998-1G>T (n.3998-1G>T)
n.510-1G>T
n.419-1G>T
c.4007-1G>T (n.4007-1G>T)
c.3692-1G>T (n.3692-1G>T)
c.1589-1G>T (n.1589-1G>T)
c.4031-1G>T (n.4031-1G>T)
c.4022-1G>T (n.4022-1G>T)
c.4013-1G>T (n.4013-1G>T)
c.2351-1G>T (n.2351-1G>T)
Xg.108680885G>ACA413851091COL4A5c.4016G>A (p.Gly1339Asp)
c.3998G>A (p.Gly1333Asp)
n.510G>A
n.419G>A
c.4007G>A (p.Gly1336Asp)
c.3692G>A (p.Gly1231Asp)
c.1589G>A (p.Gly530Asp)
c.4031G>A (p.Gly1344Asp)
c.4022G>A (p.Gly1341Asp)
c.4013G>A (p.Gly1338Asp)
c.2351G>A (p.Gly784Asp)
 ClinVar
Xg.108680885G>CCA413851089COL4A5c.4016G>C (p.Gly1339Ala)
c.3998G>C (p.Gly1333Ala)
n.510G>C
n.419G>C
c.4007G>C (p.Gly1336Ala)
c.3692G>C (p.Gly1231Ala)
c.1589G>C (p.Gly530Ala)
c.4031G>C (p.Gly1344Ala)
c.4022G>C (p.Gly1341Ala)
c.4013G>C (p.Gly1338Ala)
c.2351G>C (p.Gly784Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.108680885G=CA2450716898COL4A5c.4016G= (p.Gly1339=)
c.3998G= (p.Gly1333=)
n.510G=
n.419G=
c.4007G= (p.Gly1336=)
c.3692G= (p.Gly1231=)
c.1589G= (p.Gly530=)
c.4031G= (p.Gly1344=)
c.4022G= (p.Gly1341=)
c.4013G= (p.Gly1338=)
c.2351G= (p.Gly784=)
Xg.108680885G>TCA413851090COL4A5c.4016G>T (p.Gly1339Val)
c.3998G>T (p.Gly1333Val)
n.510G>T
n.419G>T
c.4007G>T (p.Gly1336Val)
c.3692G>T (p.Gly1231Val)
c.1589G>T (p.Gly530Val)
c.4031G>T (p.Gly1344Val)
c.4022G>T (p.Gly1341Val)
c.4013G>T (p.Gly1338Val)
c.2351G>T (p.Gly784Val)
Xg.108680886C>ACA517923632COL4A5c.4017C>A (p.Gly1339=)
c.3999C>A (p.Gly1333=)
n.511C>A
n.420C>A
c.4008C>A (p.Gly1336=)
c.3693C>A (p.Gly1231=)
c.1590C>A (p.Gly530=)
c.4032C>A (p.Gly1344=)
c.4023C>A (p.Gly1341=)
c.4014C>A (p.Gly1338=)
c.2352C>A (p.Gly784=)
Xg.108680886C>GCA517923633COL4A5c.4017C>G (p.Gly1339=)
c.3999C>G (p.Gly1333=)
n.511C>G
n.420C>G
c.4008C>G (p.Gly1336=)
c.3693C>G (p.Gly1231=)
c.1590C>G (p.Gly530=)
c.4032C>G (p.Gly1344=)
c.4023C>G (p.Gly1341=)
c.4014C>G (p.Gly1338=)
c.2352C>G (p.Gly784=)
Xg.108680886C>TCA517923634COL4A5c.4017C>T (p.Gly1339=)
c.3999C>T (p.Gly1333=)
n.511C>T
n.420C>T
c.4008C>T (p.Gly1336=)
c.3693C>T (p.Gly1231=)
c.1590C>T (p.Gly530=)
c.4032C>T (p.Gly1344=)
c.4023C>T (p.Gly1341=)
c.4014C>T (p.Gly1338=)
c.2352C>T (p.Gly784=)
Xg.108680887A=CA2450716899COL4A5c.4018A= (p.Met1340=)
c.4000A= (p.Met1334=)
n.512A=
n.421A=
c.4009A= (p.Met1337=)
c.3694A= (p.Met1232=)
c.1591A= (p.Met531=)
c.4033A= (p.Met1345=)
c.4024A= (p.Met1342=)
c.4015A= (p.Met1339=)
c.2353A= (p.Met785=)
Xg.108680887A>CCA413851092COL4A5c.4018A>C (p.Met1340Leu)
c.4000A>C (p.Met1334Leu)
n.512A>C
n.421A>C
c.4009A>C (p.Met1337Leu)
c.3694A>C (p.Met1232Leu)
c.1591A>C (p.Met531Leu)
c.4033A>C (p.Met1345Leu)
c.4024A>C (p.Met1342Leu)
c.4015A>C (p.Met1339Leu)
c.2353A>C (p.Met785Leu)
Xg.108680887A>GCA413851094COL4A5c.4018A>G (p.Met1340Val)
c.4000A>G (p.Met1334Val)
n.512A>G
n.421A>G
c.4009A>G (p.Met1337Val)
c.3694A>G (p.Met1232Val)
c.1591A>G (p.Met531Val)
c.4033A>G (p.Met1345Val)
c.4024A>G (p.Met1342Val)
c.4015A>G (p.Met1339Val)
c.2353A>G (p.Met785Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.108680887A>TCA413851093COL4A5c.4018A>T (p.Met1340Leu)
c.4000A>T (p.Met1334Leu)
n.512A>T
n.421A>T
c.4009A>T (p.Met1337Leu)
c.3694A>T (p.Met1232Leu)
c.1591A>T (p.Met531Leu)
c.4033A>T (p.Met1345Leu)
c.4024A>T (p.Met1342Leu)
c.4015A>T (p.Met1339Leu)
c.2353A>T (p.Met785Leu)
Xg.108680888T>ACA413851095COL4A5c.4019T>A (p.Met1340Lys)
c.4001T>A (p.Met1334Lys)
n.513T>A
n.422T>A
c.4010T>A (p.Met1337Lys)
c.3695T>A (p.Met1232Lys)
c.1592T>A (p.Met531Lys)
c.4034T>A (p.Met1345Lys)
c.4025T>A (p.Met1342Lys)
c.4016T>A (p.Met1339Lys)
c.2354T>A (p.Met785Lys)
Xg.108680888T>CCA413851096COL4A5c.4019T>C (p.Met1340Thr)
c.4001T>C (p.Met1334Thr)
n.513T>C
n.422T>C
c.4010T>C (p.Met1337Thr)
c.3695T>C (p.Met1232Thr)
c.1592T>C (p.Met531Thr)
c.4034T>C (p.Met1345Thr)
c.4025T>C (p.Met1342Thr)
c.4016T>C (p.Met1339Thr)
c.2354T>C (p.Met785Thr)
 gnomAD v4
Xg.108680888T>GCA413851097COL4A5c.4019T>G (p.Met1340Arg)
c.4001T>G (p.Met1334Arg)
n.513T>G
n.422T>G
c.4010T>G (p.Met1337Arg)
c.3695T>G (p.Met1232Arg)
c.1592T>G (p.Met531Arg)
c.4034T>G (p.Met1345Arg)
c.4025T>G (p.Met1342Arg)
c.4016T>G (p.Met1339Arg)
c.2354T>G (p.Met785Arg)
Xg.108680889G>ACA413851098COL4A5c.4020G>A (p.Met1340Ile)
c.4002G>A (p.Met1334Ile)
n.514G>A
n.423G>A
c.4011G>A (p.Met1337Ile)
c.3696G>A (p.Met1232Ile)
c.1593G>A (p.Met531Ile)
c.4035G>A (p.Met1345Ile)
c.4026G>A (p.Met1342Ile)
c.4017G>A (p.Met1339Ile)
c.2355G>A (p.Met785Ile)
Xg.108680889G>CCA413851099COL4A5c.4020G>C (p.Met1340Ile)
c.4002G>C (p.Met1334Ile)
n.514G>C
n.423G>C
c.4011G>C (p.Met1337Ile)
c.3696G>C (p.Met1232Ile)
c.1593G>C (p.Met531Ile)
c.4035G>C (p.Met1345Ile)
c.4026G>C (p.Met1342Ile)
c.4017G>C (p.Met1339Ile)
c.2355G>C (p.Met785Ile)
Xg.108680889G>TCA413851100COL4A5c.4020G>T (p.Met1340Ile)
c.4002G>T (p.Met1334Ile)
n.514G>T
n.423G>T
c.4011G>T (p.Met1337Ile)
c.3696G>T (p.Met1232Ile)
c.1593G>T (p.Met531Ile)
c.4035G>T (p.Met1345Ile)
c.4026G>T (p.Met1342Ile)
c.4017G>T (p.Met1339Ile)
c.2355G>T (p.Met785Ile)
Xg.108680890A=CA2450716900COL4A5c.4021A= (p.Lys1341=)
c.4003A= (p.Lys1335=)
n.515A=
n.424A=
c.4012A= (p.Lys1338=)
c.3697A= (p.Lys1233=)
c.1594A= (p.Lys532=)
c.4036A= (p.Lys1346=)
c.4027A= (p.Lys1343=)
c.4018A= (p.Lys1340=)
c.2356A= (p.Lys786=)
Xg.108680890A>CCA413851101COL4A5c.4021A>C (p.Lys1341Gln)
c.4003A>C (p.Lys1335Gln)
n.515A>C
n.424A>C
c.4012A>C (p.Lys1338Gln)
c.3697A>C (p.Lys1233Gln)
c.1594A>C (p.Lys532Gln)
c.4036A>C (p.Lys1346Gln)
c.4027A>C (p.Lys1343Gln)
c.4018A>C (p.Lys1340Gln)
c.2356A>C (p.Lys786Gln)
Xg.108680890A>GCA413851102COL4A5c.4021A>G (p.Lys1341Glu)
c.4003A>G (p.Lys1335Glu)
n.515A>G
n.424A>G
c.4012A>G (p.Lys1338Glu)
c.3697A>G (p.Lys1233Glu)
c.1594A>G (p.Lys532Glu)
c.4036A>G (p.Lys1346Glu)
c.4027A>G (p.Lys1343Glu)
c.4018A>G (p.Lys1340Glu)
c.2356A>G (p.Lys786Glu)
 COSMIC
Xg.108680890A>TCA413851103COL4A5c.4021A>T (p.Lys1341Ter)
c.4003A>T (p.Lys1335Ter)
n.515A>T
n.424A>T
c.4012A>T (p.Lys1338Ter)
c.3697A>T (p.Lys1233Ter)
c.1594A>T (p.Lys532Ter)
c.4036A>T (p.Lys1346Ter)
c.4027A>T (p.Lys1343Ter)
c.4018A>T (p.Lys1340Ter)
c.2356A>T (p.Lys786Ter)
 ClinVar dbSNP
Xg.108680891A>CCA413851104COL4A5c.4022A>C (p.Lys1341Thr)
c.4004A>C (p.Lys1335Thr)
n.516A>C
n.425A>C
c.4013A>C (p.Lys1338Thr)
c.3698A>C (p.Lys1233Thr)
c.1595A>C (p.Lys532Thr)
c.4037A>C (p.Lys1346Thr)
c.4028A>C (p.Lys1343Thr)
c.4019A>C (p.Lys1340Thr)
c.2357A>C (p.Lys786Thr)
Xg.108680891A>GCA413851105COL4A5c.4022A>G (p.Lys1341Arg)
c.4004A>G (p.Lys1335Arg)
n.516A>G
n.425A>G
c.4013A>G (p.Lys1338Arg)
c.3698A>G (p.Lys1233Arg)
c.1595A>G (p.Lys532Arg)
c.4037A>G (p.Lys1346Arg)
c.4028A>G (p.Lys1343Arg)
c.4019A>G (p.Lys1340Arg)
c.2357A>G (p.Lys786Arg)
Xg.108680891A>TCA413851106COL4A5c.4022A>T (p.Lys1341Ile)
c.4004A>T (p.Lys1335Ile)
n.516A>T
n.425A>T
c.4013A>T (p.Lys1338Ile)
c.3698A>T (p.Lys1233Ile)
c.1595A>T (p.Lys532Ile)
c.4037A>T (p.Lys1346Ile)
c.4028A>T (p.Lys1343Ile)
c.4019A>T (p.Lys1340Ile)
c.2357A>T (p.Lys786Ile)
Xg.108680892A>CCA413851107COL4A5c.4023A>C (p.Lys1341Asn)
c.4005A>C (p.Lys1335Asn)
n.517A>C
n.426A>C
c.4014A>C (p.Lys1338Asn)
c.3699A>C (p.Lys1233Asn)
c.1596A>C (p.Lys532Asn)
c.4038A>C (p.Lys1346Asn)
c.4029A>C (p.Lys1343Asn)
c.4020A>C (p.Lys1340Asn)
c.2358A>C (p.Lys786Asn)
Xg.108680892A>GCA517923635COL4A5c.4023A>G (p.Lys1341=)
c.4005A>G (p.Lys1335=)
n.517A>G
n.426A>G
c.4014A>G (p.Lys1338=)
c.3699A>G (p.Lys1233=)
c.1596A>G (p.Lys532=)
c.4038A>G (p.Lys1346=)
c.4029A>G (p.Lys1343=)
c.4020A>G (p.Lys1340=)
c.2358A>G (p.Lys786=)
 COSMIC COSMIC
Xg.108680892A>TCA413851108COL4A5c.4023A>T (p.Lys1341Asn)
c.4005A>T (p.Lys1335Asn)
n.517A>T
n.426A>T
c.4014A>T (p.Lys1338Asn)
c.3699A>T (p.Lys1233Asn)
c.1596A>T (p.Lys532Asn)
c.4038A>T (p.Lys1346Asn)
c.4029A>T (p.Lys1343Asn)
c.4020A>T (p.Lys1340Asn)
c.2358A>T (p.Lys786Asn)
Xg.108680893G>ACA413851109COL4A5c.4024G>A (p.Gly1342Arg)
c.4006G>A (p.Gly1336Arg)
n.518G>A
n.427G>A
c.4015G>A (p.Gly1339Arg)
c.3700G>A (p.Gly1234Arg)
c.1597G>A (p.Gly533Arg)
c.4039G>A (p.Gly1347Arg)
c.4030G>A (p.Gly1344Arg)
c.4021G>A (p.Gly1341Arg)
c.2359G>A (p.Gly787Arg)
 COSMIC COSMIC
Xg.108680893G>CCA413851110COL4A5c.4024G>C (p.Gly1342Arg)
c.4006G>C (p.Gly1336Arg)
n.518G>C
n.427G>C
c.4015G>C (p.Gly1339Arg)
c.3700G>C (p.Gly1234Arg)
c.1597G>C (p.Gly533Arg)
c.4039G>C (p.Gly1347Arg)
c.4030G>C (p.Gly1344Arg)
c.4021G>C (p.Gly1341Arg)
c.2359G>C (p.Gly787Arg)
Xg.108680893G=CA2450716901COL4A5c.4024G= (p.Gly1342=)
c.4006G= (p.Gly1336=)
n.518G=
n.427G=
c.4015G= (p.Gly1339=)
c.3700G= (p.Gly1234=)
c.1597G= (p.Gly533=)
c.4039G= (p.Gly1347=)
c.4030G= (p.Gly1344=)
c.4021G= (p.Gly1341=)
c.2359G= (p.Gly787=)
Xg.108680893G>TCA258978COL4A5c.4024G>T (p.Gly1342Ter)
c.4006G>T (p.Gly1336Ter)
n.518G>T
n.427G>T
c.4015G>T (p.Gly1339Ter)
c.3700G>T (p.Gly1234Ter)
c.1597G>T (p.Gly533Ter)
c.4039G>T (p.Gly1347Ter)
c.4030G>T (p.Gly1344Ter)
c.4021G>T (p.Gly1341Ter)
c.2359G>T (p.Gly787Ter)
Xg.108680894G>ACA413851111COL4A5c.4025G>A (p.Gly1342Glu)
c.4007G>A (p.Gly1336Glu)
n.519G>A
n.428G>A
c.4016G>A (p.Gly1339Glu)
c.3701G>A (p.Gly1234Glu)
c.1598G>A (p.Gly533Glu)
c.4040G>A (p.Gly1347Glu)
c.4031G>A (p.Gly1344Glu)
c.4022G>A (p.Gly1341Glu)
c.2360G>A (p.Gly787Glu)
 COSMIC COSMIC
Xg.108680894G>CCA413851112COL4A5c.4025G>C (p.Gly1342Ala)
c.4007G>C (p.Gly1336Ala)
n.519G>C
n.428G>C
c.4016G>C (p.Gly1339Ala)
c.3701G>C (p.Gly1234Ala)
c.1598G>C (p.Gly533Ala)
c.4040G>C (p.Gly1347Ala)
c.4031G>C (p.Gly1344Ala)
c.4022G>C (p.Gly1341Ala)
c.2360G>C (p.Gly787Ala)
Xg.108680894G>TCA413851113COL4A5c.4025G>T (p.Gly1342Val)
c.4007G>T (p.Gly1336Val)
n.519G>T
n.428G>T
c.4016G>T (p.Gly1339Val)
c.3701G>T (p.Gly1234Val)
c.1598G>T (p.Gly533Val)
c.4040G>T (p.Gly1347Val)
c.4031G>T (p.Gly1344Val)
c.4022G>T (p.Gly1341Val)
c.2360G>T (p.Gly787Val)
Xg.108680895A>CCA517923636COL4A5c.4026A>C (p.Gly1342=)
c.4008A>C (p.Gly1336=)
n.520A>C
n.429A>C
c.4017A>C (p.Gly1339=)
c.3702A>C (p.Gly1234=)
c.1599A>C (p.Gly533=)
c.4041A>C (p.Gly1347=)
c.4032A>C (p.Gly1344=)
c.4023A>C (p.Gly1341=)
c.2361A>C (p.Gly787=)
Xg.108680895A>GCA517923637COL4A5c.4026A>G (p.Gly1342=)
c.4008A>G (p.Gly1336=)
n.520A>G
n.429A>G
c.4017A>G (p.Gly1339=)
c.3702A>G (p.Gly1234=)
c.1599A>G (p.Gly533=)
c.4041A>G (p.Gly1347=)
c.4032A>G (p.Gly1344=)
c.4023A>G (p.Gly1341=)
c.2361A>G (p.Gly787=)
Xg.108680895A>TCA517923638COL4A5c.4026A>T (p.Gly1342=)
c.4008A>T (p.Gly1336=)
n.520A>T
n.429A>T
c.4017A>T (p.Gly1339=)
c.3702A>T (p.Gly1234=)
c.1599A>T (p.Gly533=)
c.4041A>T (p.Gly1347=)
c.4032A>T (p.Gly1344=)
c.4023A>T (p.Gly1341=)
c.2361A>T (p.Gly787=)
Xg.108680896C>ACA413851114COL4A5c.4027C>A (p.Pro1343Thr)
c.4009C>A (p.Pro1337Thr)
n.521C>A
n.430C>A
c.4018C>A (p.Pro1340Thr)
c.3703C>A (p.Pro1235Thr)
c.1600C>A (p.Pro534Thr)
c.4042C>A (p.Pro1348Thr)
c.4033C>A (p.Pro1345Thr)
c.4024C>A (p.Pro1342Thr)
c.2362C>A (p.Pro788Thr)
Xg.108680896C>GCA413851115COL4A5c.4027C>G (p.Pro1343Ala)
c.4009C>G (p.Pro1337Ala)
n.521C>G
n.430C>G
c.4018C>G (p.Pro1340Ala)
c.3703C>G (p.Pro1235Ala)
c.1600C>G (p.Pro534Ala)
c.4042C>G (p.Pro1348Ala)
c.4033C>G (p.Pro1345Ala)
c.4024C>G (p.Pro1342Ala)
c.2362C>G (p.Pro788Ala)
Xg.108680896C>TCA413851116COL4A5c.4027C>T (p.Pro1343Ser)
c.4009C>T (p.Pro1337Ser)
n.521C>T
n.430C>T
c.4018C>T (p.Pro1340Ser)
c.3703C>T (p.Pro1235Ser)
c.1600C>T (p.Pro534Ser)
c.4042C>T (p.Pro1348Ser)
c.4033C>T (p.Pro1345Ser)
c.4024C>T (p.Pro1342Ser)
c.2362C>T (p.Pro788Ser)
 gnomAD v4
Xg.108680897C>ACA413851117COL4A5c.4028C>A (p.Pro1343His)
c.4010C>A (p.Pro1337His)
n.522C>A
n.431C>A
c.4019C>A (p.Pro1340His)
c.3704C>A (p.Pro1235His)
c.1601C>A (p.Pro534His)
c.4043C>A (p.Pro1348His)
c.4034C>A (p.Pro1345His)
c.4025C>A (p.Pro1342His)
c.2363C>A (p.Pro788His)
Xg.108680897C=CA2450716902COL4A5c.4028C= (p.Pro1343=)
c.4010C= (p.Pro1337=)
n.522C=
n.431C=
c.4019C= (p.Pro1340=)
c.3704C= (p.Pro1235=)
c.1601C= (p.Pro534=)
c.4043C= (p.Pro1348=)
c.4034C= (p.Pro1345=)
c.4025C= (p.Pro1342=)
c.2363C= (p.Pro788=)
Xg.108680897C>GCA413851118COL4A5c.4028C>G (p.Pro1343Arg)
c.4010C>G (p.Pro1337Arg)
n.522C>G
n.431C>G
c.4019C>G (p.Pro1340Arg)
c.3704C>G (p.Pro1235Arg)
c.1601C>G (p.Pro534Arg)
c.4043C>G (p.Pro1348Arg)
c.4034C>G (p.Pro1345Arg)
c.4025C>G (p.Pro1342Arg)
c.2363C>G (p.Pro788Arg)
Xg.108680897C>TCA10489277COL4A5c.4028C>T (p.Pro1343Leu)
c.4010C>T (p.Pro1337Leu)
n.522C>T
n.431C>T
c.4019C>T (p.Pro1340Leu)
c.3704C>T (p.Pro1235Leu)
c.1601C>T (p.Pro534Leu)
c.4043C>T (p.Pro1348Leu)
c.4034C>T (p.Pro1345Leu)
c.4025C>T (p.Pro1342Leu)
c.2363C>T (p.Pro788Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108680898C>ACA517923639COL4A5c.4029C>A (p.Pro1343=)
c.4011C>A (p.Pro1337=)
n.523C>A
n.432C>A
c.4020C>A (p.Pro1340=)
c.3705C>A (p.Pro1235=)
c.1602C>A (p.Pro534=)
c.4044C>A (p.Pro1348=)
c.4035C>A (p.Pro1345=)
c.4026C>A (p.Pro1342=)
c.2364C>A (p.Pro788=)
Xg.108680898C>GCA517923640COL4A5c.4029C>G (p.Pro1343=)
c.4011C>G (p.Pro1337=)
n.523C>G
n.432C>G
c.4020C>G (p.Pro1340=)
c.3705C>G (p.Pro1235=)
c.1602C>G (p.Pro534=)
c.4044C>G (p.Pro1348=)
c.4035C>G (p.Pro1345=)
c.4026C>G (p.Pro1342=)
c.2364C>G (p.Pro788=)
Xg.108680898C>TCA517923641COL4A5c.4029C>T (p.Pro1343=)
c.4011C>T (p.Pro1337=)
n.523C>T
n.432C>T
c.4020C>T (p.Pro1340=)
c.3705C>T (p.Pro1235=)
c.1602C>T (p.Pro534=)
c.4044C>T (p.Pro1348=)
c.4035C>T (p.Pro1345=)
c.4026C>T (p.Pro1342=)
c.2364C>T (p.Pro788=)
Xg.108680899A>CCA413851121COL4A5c.4030A>C (p.Ser1344Arg)
c.4012A>C (p.Ser1338Arg)
n.524A>C
n.433A>C
c.4021A>C (p.Ser1341Arg)
c.3706A>C (p.Ser1236Arg)
c.1603A>C (p.Ser535Arg)
c.4045A>C (p.Ser1349Arg)
c.4036A>C (p.Ser1346Arg)
c.4027A>C (p.Ser1343Arg)
c.2365A>C (p.Ser789Arg)
Xg.108680899A>GCA413851119COL4A5c.4030A>G (p.Ser1344Gly)
c.4012A>G (p.Ser1338Gly)
n.524A>G
n.433A>G
c.4021A>G (p.Ser1341Gly)
c.3706A>G (p.Ser1236Gly)
c.1603A>G (p.Ser535Gly)
c.4045A>G (p.Ser1349Gly)
c.4036A>G (p.Ser1346Gly)
c.4027A>G (p.Ser1343Gly)
c.2365A>G (p.Ser789Gly)
Xg.108680899A>TCA413851120COL4A5c.4030A>T (p.Ser1344Cys)
c.4012A>T (p.Ser1338Cys)
n.524A>T
n.433A>T
c.4021A>T (p.Ser1341Cys)
c.3706A>T (p.Ser1236Cys)
c.1603A>T (p.Ser535Cys)
c.4045A>T (p.Ser1349Cys)
c.4036A>T (p.Ser1346Cys)
c.4027A>T (p.Ser1343Cys)
c.2365A>T (p.Ser789Cys)
Xg.108680900G>ACA413851122COL4A5c.4031G>A (p.Ser1344Asn)
c.4013G>A (p.Ser1338Asn)
n.525G>A
n.434G>A
c.4022G>A (p.Ser1341Asn)
c.3707G>A (p.Ser1236Asn)
c.1604G>A (p.Ser535Asn)
c.4046G>A (p.Ser1349Asn)
c.4037G>A (p.Ser1346Asn)
c.4028G>A (p.Ser1343Asn)
c.2366G>A (p.Ser789Asn)
Xg.108680900G>CCA413851123COL4A5c.4031G>C (p.Ser1344Thr)
c.4013G>C (p.Ser1338Thr)
n.525G>C
n.434G>C
c.4022G>C (p.Ser1341Thr)
c.3707G>C (p.Ser1236Thr)
c.1604G>C (p.Ser535Thr)
c.4046G>C (p.Ser1349Thr)
c.4037G>C (p.Ser1346Thr)
c.4028G>C (p.Ser1343Thr)
c.2366G>C (p.Ser789Thr)
Xg.108680900G>TCA413851124COL4A5c.4031G>T (p.Ser1344Ile)
c.4013G>T (p.Ser1338Ile)
n.525G>T
n.434G>T
c.4022G>T (p.Ser1341Ile)
c.3707G>T (p.Ser1236Ile)
c.1604G>T (p.Ser535Ile)
c.4046G>T (p.Ser1349Ile)
c.4037G>T (p.Ser1346Ile)
c.4028G>T (p.Ser1343Ile)
c.2366G>T (p.Ser789Ile)
Xg.108680901T>ACA413851125COL4A5c.4032T>A (p.Ser1344Arg)
c.4014T>A (p.Ser1338Arg)
n.526T>A
n.435T>A
c.4023T>A (p.Ser1341Arg)
c.3708T>A (p.Ser1236Arg)
c.1605T>A (p.Ser535Arg)
c.4047T>A (p.Ser1349Arg)
c.4038T>A (p.Ser1346Arg)
c.4029T>A (p.Ser1343Arg)
c.2367T>A (p.Ser789Arg)
Xg.108680901T>CCA517923642COL4A5c.4032T>C (p.Ser1344=)
c.4014T>C (p.Ser1338=)
n.526T>C
n.435T>C
c.4023T>C (p.Ser1341=)
c.3708T>C (p.Ser1236=)
c.1605T>C (p.Ser535=)
c.4047T>C (p.Ser1349=)
c.4038T>C (p.Ser1346=)
c.4029T>C (p.Ser1343=)
c.2367T>C (p.Ser789=)
Xg.108680901T>GCA413851126COL4A5c.4032T>G (p.Ser1344Arg)
c.4014T>G (p.Ser1338Arg)
n.526T>G
n.435T>G
c.4023T>G (p.Ser1341Arg)
c.3708T>G (p.Ser1236Arg)
c.1605T>G (p.Ser535Arg)
c.4047T>G (p.Ser1349Arg)
c.4038T>G (p.Ser1346Arg)
c.4029T>G (p.Ser1343Arg)
c.2367T>G (p.Ser789Arg)
Xg.108680902G>ACA413851129COL4A5c.4033G>A (p.Gly1345Arg)
c.4015G>A (p.Gly1339Arg)
n.527G>A
n.436G>A
c.4024G>A (p.Gly1342Arg)
c.3709G>A (p.Gly1237Arg)
c.1606G>A (p.Gly536Arg)
c.4048G>A (p.Gly1350Arg)
c.4039G>A (p.Gly1347Arg)
c.4030G>A (p.Gly1344Arg)
c.2368G>A (p.Gly790Arg)
Xg.108680902G>CCA413851128COL4A5c.4033G>C (p.Gly1345Arg)
c.4015G>C (p.Gly1339Arg)
n.527G>C
n.436G>C
c.4024G>C (p.Gly1342Arg)
c.3709G>C (p.Gly1237Arg)
c.1606G>C (p.Gly536Arg)
c.4048G>C (p.Gly1350Arg)
c.4039G>C (p.Gly1347Arg)
c.4030G>C (p.Gly1344Arg)
c.2368G>C (p.Gly790Arg)
Xg.108680902G>TCA413851127COL4A5c.4033G>T (p.Gly1345Ter)
c.4015G>T (p.Gly1339Ter)
n.527G>T
n.436G>T
c.4024G>T (p.Gly1342Ter)
c.3709G>T (p.Gly1237Ter)
c.1606G>T (p.Gly536Ter)
c.4048G>T (p.Gly1350Ter)
c.4039G>T (p.Gly1347Ter)
c.4030G>T (p.Gly1344Ter)
c.2368G>T (p.Gly790Ter)
Xg.108680903G>ACA413851130COL4A5c.4034G>A (p.Gly1345Glu)
c.4016G>A (p.Gly1339Glu)
n.528G>A
n.437G>A
c.4025G>A (p.Gly1342Glu)
c.3710G>A (p.Gly1237Glu)
c.1607G>A (p.Gly536Glu)
c.4049G>A (p.Gly1350Glu)
c.4040G>A (p.Gly1347Glu)
c.4031G>A (p.Gly1344Glu)
c.2369G>A (p.Gly790Glu)
Xg.108680903G>CCA413851131COL4A5c.4034G>C (p.Gly1345Ala)
c.4016G>C (p.Gly1339Ala)
n.528G>C
n.437G>C
c.4025G>C (p.Gly1342Ala)
c.3710G>C (p.Gly1237Ala)
c.1607G>C (p.Gly536Ala)
c.4049G>C (p.Gly1350Ala)
c.4040G>C (p.Gly1347Ala)
c.4031G>C (p.Gly1344Ala)
c.2369G>C (p.Gly790Ala)
Xg.108680903G>TCA413851132COL4A5c.4034G>T (p.Gly1345Val)
c.4016G>T (p.Gly1339Val)
n.528G>T
n.437G>T
c.4025G>T (p.Gly1342Val)
c.3710G>T (p.Gly1237Val)
c.1607G>T (p.Gly536Val)
c.4049G>T (p.Gly1350Val)
c.4040G>T (p.Gly1347Val)
c.4031G>T (p.Gly1344Val)
c.2369G>T (p.Gly790Val)
 dbSNP
Xg.108680904A>CCA517923645COL4A5c.4035A>C (p.Gly1345=)
c.4017A>C (p.Gly1339=)
n.529A>C
n.438A>C
c.4026A>C (p.Gly1342=)
c.3711A>C (p.Gly1237=)
c.1608A>C (p.Gly536=)
c.4050A>C (p.Gly1350=)
c.4041A>C (p.Gly1347=)
c.4032A>C (p.Gly1344=)
c.2370A>C (p.Gly790=)
Xg.108680904A>GCA517923644COL4A5c.4035A>G (p.Gly1345=)
c.4017A>G (p.Gly1339=)
n.529A>G
n.438A>G
c.4026A>G (p.Gly1342=)
c.3711A>G (p.Gly1237=)
c.1608A>G (p.Gly536=)
c.4050A>G (p.Gly1350=)
c.4041A>G (p.Gly1347=)
c.4032A>G (p.Gly1344=)
c.2370A>G (p.Gly790=)
 gnomAD v3 gnomAD v4
Xg.108680904A>TCA517923643COL4A5c.4035A>T (p.Gly1345=)
c.4017A>T (p.Gly1339=)
n.529A>T
n.438A>T
c.4026A>T (p.Gly1342=)
c.3711A>T (p.Gly1237=)
c.1608A>T (p.Gly536=)
c.4050A>T (p.Gly1350=)
c.4041A>T (p.Gly1347=)
c.4032A>T (p.Gly1344=)
c.2370A>T (p.Gly790=)
Xg.108680905G>ACA10489278COL4A5c.4036G>A (p.Val1346Ile)
c.4018G>A (p.Val1340Ile)
n.530G>A
n.439G>A
c.4027G>A (p.Val1343Ile)
c.3712G>A (p.Val1238Ile)
c.1609G>A (p.Val537Ile)
c.4051G>A (p.Val1351Ile)
c.4042G>A (p.Val1348Ile)
c.4033G>A (p.Val1345Ile)
c.2371G>A (p.Val791Ile)
 dbSNP ExAC gnomAD v2
Xg.108680905G>CCA413851133COL4A5c.4036G>C (p.Val1346Leu)
c.4018G>C (p.Val1340Leu)
n.530G>C
n.439G>C
c.4027G>C (p.Val1343Leu)
c.3712G>C (p.Val1238Leu)
c.1609G>C (p.Val537Leu)
c.4051G>C (p.Val1351Leu)
c.4042G>C (p.Val1348Leu)
c.4033G>C (p.Val1345Leu)
c.2371G>C (p.Val791Leu)
Xg.108680905G=CA2450716903COL4A5c.4036G= (p.Val1346=)
c.4018G= (p.Val1340=)
n.530G=
n.439G=
c.4027G= (p.Val1343=)
c.3712G= (p.Val1238=)
c.1609G= (p.Val537=)
c.4051G= (p.Val1351=)
c.4042G= (p.Val1348=)
c.4033G= (p.Val1345=)
c.2371G= (p.Val791=)
Xg.108680905G>TCA413851134COL4A5c.4036G>T (p.Val1346Leu)
c.4018G>T (p.Val1340Leu)
n.530G>T
n.439G>T
c.4027G>T (p.Val1343Leu)
c.3712G>T (p.Val1238Leu)
c.1609G>T (p.Val537Leu)
c.4051G>T (p.Val1351Leu)
c.4042G>T (p.Val1348Leu)
c.4033G>T (p.Val1345Leu)
c.2371G>T (p.Val791Leu)
Xg.108680906T>ACA413851137COL4A5c.4037T>A (p.Val1346Glu)
c.4019T>A (p.Val1340Glu)
n.531T>A
n.440T>A
c.4028T>A (p.Val1343Glu)
c.3713T>A (p.Val1238Glu)
c.1610T>A (p.Val537Glu)
c.4052T>A (p.Val1351Glu)
c.4043T>A (p.Val1348Glu)
c.4034T>A (p.Val1345Glu)
c.2372T>A (p.Val791Glu)
Xg.108680906T>CCA413851135COL4A5c.4037T>C (p.Val1346Ala)
c.4019T>C (p.Val1340Ala)
n.531T>C
n.440T>C
c.4028T>C (p.Val1343Ala)
c.3713T>C (p.Val1238Ala)
c.1610T>C (p.Val537Ala)
c.4052T>C (p.Val1351Ala)
c.4043T>C (p.Val1348Ala)
c.4034T>C (p.Val1345Ala)
c.2372T>C (p.Val791Ala)
 dbSNP
Xg.108680906T>GCA413851136COL4A5c.4037T>G (p.Val1346Gly)
c.4019T>G (p.Val1340Gly)
n.531T>G
n.440T>G
c.4028T>G (p.Val1343Gly)
c.3713T>G (p.Val1238Gly)
c.1610T>G (p.Val537Gly)
c.4052T>G (p.Val1351Gly)
c.4043T>G (p.Val1348Gly)
c.4034T>G (p.Val1345Gly)
c.2372T>G (p.Val791Gly)
Xg.108680906T=CA2450716904COL4A5c.4037T= (p.Val1346=)
c.4019T= (p.Val1340=)
n.531T=
n.440T=
c.4028T= (p.Val1343=)
c.3713T= (p.Val1238=)
c.1610T= (p.Val537=)
c.4052T= (p.Val1351=)
c.4043T= (p.Val1348=)
c.4034T= (p.Val1345=)
c.2372T= (p.Val791=)
Xg.108680907_108680910delCA2573159122COL4A5c.4038_4041del (p.Pro1347AspfsTer29)
c.4020_4023del (p.Pro1341AspfsTer29)
n.532_535del
n.441_444del
c.4029_4032del (p.Pro1344AspfsTer29)
c.3714_3717del (p.Pro1239AspfsTer29)
c.1611_1614del (p.Pro538AspfsTer29)
c.4053_4056del (p.Pro1352AspfsTer29)
c.4044_4047del (p.Pro1349AspfsTer29)
c.4035_4038del (p.Pro1346AspfsTer29)
c.2373_2376del (p.Pro792AspfsTer29)
 ClinVar dbSNP
Xg.108680907A=CA2450716905COL4A5c.4038A= (p.Val1346=)
c.4020A= (p.Val1340=)
n.532A=
n.441A=
c.4029A= (p.Val1343=)
c.3714A= (p.Val1238=)
c.1611A= (p.Val537=)
c.4053A= (p.Val1351=)
c.4044A= (p.Val1348=)
c.4035A= (p.Val1345=)
c.2373A= (p.Val791=)
Xg.108680907A>CCA517923646COL4A5c.4038A>C (p.Val1346=)
c.4020A>C (p.Val1340=)
n.532A>C
n.441A>C
c.4029A>C (p.Val1343=)
c.3714A>C (p.Val1238=)
c.1611A>C (p.Val537=)
c.4053A>C (p.Val1351=)
c.4044A>C (p.Val1348=)
c.4035A>C (p.Val1345=)
c.2373A>C (p.Val791=)
Xg.108680907A>GCA517923647COL4A5c.4038A>G (p.Val1346=)
c.4020A>G (p.Val1340=)
n.532A>G
n.441A>G
c.4029A>G (p.Val1343=)
c.3714A>G (p.Val1238=)
c.1611A>G (p.Val537=)
c.4053A>G (p.Val1351=)
c.4044A>G (p.Val1348=)
c.4035A>G (p.Val1345=)
c.2373A>G (p.Val791=)
Xg.108680907A>TCA10489279COL4A5c.4038A>T (p.Val1346=)
c.4020A>T (p.Val1340=)
n.532A>T
n.441A>T
c.4029A>T (p.Val1343=)
c.3714A>T (p.Val1238=)
c.1611A>T (p.Val537=)
c.4053A>T (p.Val1351=)
c.4044A>T (p.Val1348=)
c.4035A>T (p.Val1345=)
c.2373A>T (p.Val791=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108680908C>ACA413851138COL4A5c.4039C>A (p.Pro1347Thr)
c.4021C>A (p.Pro1341Thr)
n.533C>A
n.442C>A
c.4030C>A (p.Pro1344Thr)
c.3715C>A (p.Pro1239Thr)
c.1612C>A (p.Pro538Thr)
c.4054C>A (p.Pro1352Thr)
c.4045C>A (p.Pro1349Thr)
c.4036C>A (p.Pro1346Thr)
c.2374C>A (p.Pro792Thr)
Xg.108680908C>GCA413851139COL4A5c.4039C>G (p.Pro1347Ala)
c.4021C>G (p.Pro1341Ala)
n.533C>G
n.442C>G
c.4030C>G (p.Pro1344Ala)
c.3715C>G (p.Pro1239Ala)
c.1612C>G (p.Pro538Ala)
c.4054C>G (p.Pro1352Ala)
c.4045C>G (p.Pro1349Ala)
c.4036C>G (p.Pro1346Ala)
c.2374C>G (p.Pro792Ala)
Xg.108680908C>TCA413851140COL4A5c.4039C>T (p.Pro1347Ser)
c.4021C>T (p.Pro1341Ser)
n.533C>T
n.442C>T
c.4030C>T (p.Pro1344Ser)
c.3715C>T (p.Pro1239Ser)
c.1612C>T (p.Pro538Ser)
c.4054C>T (p.Pro1352Ser)
c.4045C>T (p.Pro1349Ser)
c.4036C>T (p.Pro1346Ser)
c.2374C>T (p.Pro792Ser)
Xg.108680909C>ACA413851141COL4A5c.4040C>A (p.Pro1347His)
c.4022C>A (p.Pro1341His)
n.534C>A
n.443C>A
c.4031C>A (p.Pro1344His)
c.3716C>A (p.Pro1239His)
c.1613C>A (p.Pro538His)
c.4055C>A (p.Pro1352His)
c.4046C>A (p.Pro1349His)
c.4037C>A (p.Pro1346His)
c.2375C>A (p.Pro792His)
Xg.108680909C=CA2450716906COL4A5c.4040C= (p.Pro1347=)
c.4022C= (p.Pro1341=)
n.534C=
n.443C=
c.4031C= (p.Pro1344=)
c.3716C= (p.Pro1239=)
c.1613C= (p.Pro538=)
c.4055C= (p.Pro1352=)
c.4046C= (p.Pro1349=)
c.4037C= (p.Pro1346=)
c.2375C= (p.Pro792=)
Xg.108680909C>GCA413851142COL4A5c.4040C>G (p.Pro1347Arg)
c.4022C>G (p.Pro1341Arg)
n.534C>G
n.443C>G
c.4031C>G (p.Pro1344Arg)
c.3716C>G (p.Pro1239Arg)
c.1613C>G (p.Pro538Arg)
c.4055C>G (p.Pro1352Arg)
c.4046C>G (p.Pro1349Arg)
c.4037C>G (p.Pro1346Arg)
c.2375C>G (p.Pro792Arg)
Xg.108680909C>TCA413851143COL4A5c.4040C>T (p.Pro1347Leu)
c.4022C>T (p.Pro1341Leu)
n.534C>T
n.443C>T
c.4031C>T (p.Pro1344Leu)
c.3716C>T (p.Pro1239Leu)
c.1613C>T (p.Pro538Leu)
c.4055C>T (p.Pro1352Leu)
c.4046C>T (p.Pro1349Leu)
c.4037C>T (p.Pro1346Leu)
c.2375C>T (p.Pro792Leu)
 dbSNP gnomAD v2
Xg.108680910T>ACA517923648COL4A5c.4041T>A (p.Pro1347=)
c.4023T>A (p.Pro1341=)
n.535T>A
n.444T>A
c.4032T>A (p.Pro1344=)
c.3717T>A (p.Pro1239=)
c.1614T>A (p.Pro538=)
c.4056T>A (p.Pro1352=)
c.4047T>A (p.Pro1349=)
c.4038T>A (p.Pro1346=)
c.2376T>A (p.Pro792=)
Xg.108680910T>CCA517923649COL4A5c.4041T>C (p.Pro1347=)
c.4023T>C (p.Pro1341=)
n.535T>C
n.444T>C
c.4032T>C (p.Pro1344=)
c.3717T>C (p.Pro1239=)
c.1614T>C (p.Pro538=)
c.4056T>C (p.Pro1352=)
c.4047T>C (p.Pro1349=)
c.4038T>C (p.Pro1346=)
c.2376T>C (p.Pro792=)
Xg.108680910T>GCA517923650COL4A5c.4041T>G (p.Pro1347=)
c.4023T>G (p.Pro1341=)
n.535T>G
n.444T>G
c.4032T>G (p.Pro1344=)
c.3717T>G (p.Pro1239=)
c.1614T>G (p.Pro538=)
c.4056T>G (p.Pro1352=)
c.4047T>G (p.Pro1349=)
c.4038T>G (p.Pro1346=)
c.2376T>G (p.Pro792=)
Xg.108680911G>ACA413851144COL4A5c.4042G>A (p.Gly1348Arg)
c.4024G>A (p.Gly1342Arg)
n.536G>A
n.445G>A
c.4033G>A (p.Gly1345Arg)
c.3718G>A (p.Gly1240Arg)
c.1615G>A (p.Gly539Arg)
c.4057G>A (p.Gly1353Arg)
c.4048G>A (p.Gly1350Arg)
c.4039G>A (p.Gly1347Arg)
c.2377G>A (p.Gly793Arg)
 ClinVar dbSNP
Xg.108680911G>CCA413851145COL4A5c.4042G>C (p.Gly1348Arg)
c.4024G>C (p.Gly1342Arg)
n.536G>C
n.445G>C
c.4033G>C (p.Gly1345Arg)
c.3718G>C (p.Gly1240Arg)
c.1615G>C (p.Gly539Arg)
c.4057G>C (p.Gly1353Arg)
c.4048G>C (p.Gly1350Arg)
c.4039G>C (p.Gly1347Arg)
c.2377G>C (p.Gly793Arg)
Xg.108680911G=CA2450716907COL4A5c.4042G= (p.Gly1348=)
c.4024G= (p.Gly1342=)
n.536G=
n.445G=
c.4033G= (p.Gly1345=)
c.3718G= (p.Gly1240=)
c.1615G= (p.Gly539=)
c.4057G= (p.Gly1353=)
c.4048G= (p.Gly1350=)
c.4039G= (p.Gly1347=)
c.2377G= (p.Gly793=)
Xg.108680911G>TCA413851146COL4A5c.4042G>T (p.Gly1348Ter)
c.4024G>T (p.Gly1342Ter)
n.536G>T
n.445G>T
c.4033G>T (p.Gly1345Ter)
c.3718G>T (p.Gly1240Ter)
c.1615G>T (p.Gly539Ter)
c.4057G>T (p.Gly1353Ter)
c.4048G>T (p.Gly1350Ter)
c.4039G>T (p.Gly1347Ter)
c.2377G>T (p.Gly793Ter)
Xg.108680912G>ACA413851147COL4A5c.4043G>A (p.Gly1348Glu)
c.4025G>A (p.Gly1342Glu)
n.537G>A
n.446G>A
c.4034G>A (p.Gly1345Glu)
c.3719G>A (p.Gly1240Glu)
c.1616G>A (p.Gly539Glu)
c.4058G>A (p.Gly1353Glu)
c.4049G>A (p.Gly1350Glu)
c.4040G>A (p.Gly1347Glu)
c.2378G>A (p.Gly793Glu)
Xg.108680912G>CCA413851148COL4A5c.4043G>C (p.Gly1348Ala)
c.4025G>C (p.Gly1342Ala)
n.537G>C
n.446G>C
c.4034G>C (p.Gly1345Ala)
c.3719G>C (p.Gly1240Ala)
c.1616G>C (p.Gly539Ala)
c.4058G>C (p.Gly1353Ala)
c.4049G>C (p.Gly1350Ala)
c.4040G>C (p.Gly1347Ala)
c.2378G>C (p.Gly793Ala)
Xg.108680912G>TCA413851149COL4A5c.4043G>T (p.Gly1348Val)
c.4025G>T (p.Gly1342Val)
n.537G>T
n.446G>T
c.4034G>T (p.Gly1345Val)
c.3719G>T (p.Gly1240Val)
c.1616G>T (p.Gly539Val)
c.4058G>T (p.Gly1353Val)
c.4049G>T (p.Gly1350Val)
c.4040G>T (p.Gly1347Val)
c.2378G>T (p.Gly793Val)
Xg.108680913A>CCA517923651COL4A5c.4044A>C (p.Gly1348=)
c.4026A>C (p.Gly1342=)
n.538A>C
n.447A>C
c.4035A>C (p.Gly1345=)
c.3720A>C (p.Gly1240=)
c.1617A>C (p.Gly539=)
c.4059A>C (p.Gly1353=)
c.4050A>C (p.Gly1350=)
c.4041A>C (p.Gly1347=)
c.2379A>C (p.Gly793=)
Xg.108680913A>GCA517923652COL4A5c.4044A>G (p.Gly1348=)
c.4026A>G (p.Gly1342=)
n.538A>G
n.447A>G
c.4035A>G (p.Gly1345=)
c.3720A>G (p.Gly1240=)
c.1617A>G (p.Gly539=)
c.4059A>G (p.Gly1353=)
c.4050A>G (p.Gly1350=)
c.4041A>G (p.Gly1347=)
c.2379A>G (p.Gly793=)
Xg.108680913A>TCA517923653COL4A5c.4044A>T (p.Gly1348=)
c.4026A>T (p.Gly1342=)
n.538A>T
n.447A>T
c.4035A>T (p.Gly1345=)
c.3720A>T (p.Gly1240=)
c.1617A>T (p.Gly539=)
c.4059A>T (p.Gly1353=)
c.4050A>T (p.Gly1350=)
c.4041A>T (p.Gly1347=)
c.2379A>T (p.Gly793=)
Xg.108680914T>ACA413851152COL4A5c.4045T>A (p.Ser1349Thr)
c.4027T>A (p.Ser1343Thr)
n.539T>A
n.448T>A
c.4036T>A (p.Ser1346Thr)
c.3721T>A (p.Ser1241Thr)
c.1618T>A (p.Ser540Thr)
c.4060T>A (p.Ser1354Thr)
c.4051T>A (p.Ser1351Thr)
c.4042T>A (p.Ser1348Thr)
c.2380T>A (p.Ser794Thr)
Xg.108680914T>CCA413851150COL4A5c.4045T>C (p.Ser1349Pro)
c.4027T>C (p.Ser1343Pro)
n.539T>C
n.448T>C
c.4036T>C (p.Ser1346Pro)
c.3721T>C (p.Ser1241Pro)
c.1618T>C (p.Ser540Pro)
c.4060T>C (p.Ser1354Pro)
c.4051T>C (p.Ser1351Pro)
c.4042T>C (p.Ser1348Pro)
c.2380T>C (p.Ser794Pro)
 COSMIC COSMIC
Xg.108680914T>GCA413851151COL4A5c.4045T>G (p.Ser1349Ala)
c.4027T>G (p.Ser1343Ala)
n.539T>G
n.448T>G
c.4036T>G (p.Ser1346Ala)
c.3721T>G (p.Ser1241Ala)
c.1618T>G (p.Ser540Ala)
c.4060T>G (p.Ser1354Ala)
c.4051T>G (p.Ser1351Ala)
c.4042T>G (p.Ser1348Ala)
c.2380T>G (p.Ser794Ala)
Xg.108680915C>ACA413851153COL4A5c.4046C>A (p.Ser1349Ter)
c.4028C>A (p.Ser1343Ter)
n.540C>A
n.449C>A
c.4037C>A (p.Ser1346Ter)
c.3722C>A (p.Ser1241Ter)
c.1619C>A (p.Ser540Ter)
c.4061C>A (p.Ser1354Ter)
c.4052C>A (p.Ser1351Ter)
c.4043C>A (p.Ser1348Ter)
c.2381C>A (p.Ser794Ter)
Xg.108680915C>GCA413851154COL4A5c.4046C>G (p.Ser1349Ter)
c.4028C>G (p.Ser1343Ter)
n.540C>G
n.449C>G
c.4037C>G (p.Ser1346Ter)
c.3722C>G (p.Ser1241Ter)
c.1619C>G (p.Ser540Ter)
c.4061C>G (p.Ser1354Ter)
c.4052C>G (p.Ser1351Ter)
c.4043C>G (p.Ser1348Ter)
c.2381C>G (p.Ser794Ter)
Xg.108680915C>TCA413851155COL4A5c.4046C>T (p.Ser1349Leu)
c.4028C>T (p.Ser1343Leu)
n.540C>T
n.449C>T
c.4037C>T (p.Ser1346Leu)
c.3722C>T (p.Ser1241Leu)
c.1619C>T (p.Ser540Leu)
c.4061C>T (p.Ser1354Leu)
c.4052C>T (p.Ser1351Leu)
c.4043C>T (p.Ser1348Leu)
c.2381C>T (p.Ser794Leu)
 COSMIC COSMIC
Xg.108680916A>CCA517923654COL4A5c.4047A>C (p.Ser1349=)
c.4029A>C (p.Ser1343=)
n.541A>C
n.450A>C
c.4038A>C (p.Ser1346=)
c.3723A>C (p.Ser1241=)
c.1620A>C (p.Ser540=)
c.4062A>C (p.Ser1354=)
c.4053A>C (p.Ser1351=)
c.4044A>C (p.Ser1348=)
c.2382A>C (p.Ser794=)
Xg.108680916A>GCA517923655COL4A5c.4047A>G (p.Ser1349=)
c.4029A>G (p.Ser1343=)
n.541A>G
n.450A>G
c.4038A>G (p.Ser1346=)
c.3723A>G (p.Ser1241=)
c.1620A>G (p.Ser540=)
c.4062A>G (p.Ser1354=)
c.4053A>G (p.Ser1351=)
c.4044A>G (p.Ser1348=)
c.2382A>G (p.Ser794=)
Xg.108680916A>TCA517923656COL4A5c.4047A>T (p.Ser1349=)
c.4029A>T (p.Ser1343=)
n.541A>T
n.450A>T
c.4038A>T (p.Ser1346=)
c.3723A>T (p.Ser1241=)
c.1620A>T (p.Ser540=)
c.4062A>T (p.Ser1354=)
c.4053A>T (p.Ser1351=)
c.4044A>T (p.Ser1348=)
c.2382A>T (p.Ser794=)
Xg.108680917G>ACA413851156COL4A5c.4048G>A (p.Ala1350Thr)
c.4030G>A (p.Ala1344Thr)
n.542G>A
n.451G>A
c.4039G>A (p.Ala1347Thr)
c.3724G>A (p.Ala1242Thr)
c.1621G>A (p.Ala541Thr)
c.4063G>A (p.Ala1355Thr)
c.4054G>A (p.Ala1352Thr)
c.4045G>A (p.Ala1349Thr)
c.2383G>A (p.Ala795Thr)
 gnomAD v4
Xg.108680917G>CCA413851157COL4A5c.4048G>C (p.Ala1350Pro)
c.4030G>C (p.Ala1344Pro)
n.542G>C
n.451G>C
c.4039G>C (p.Ala1347Pro)
c.3724G>C (p.Ala1242Pro)
c.1621G>C (p.Ala541Pro)
c.4063G>C (p.Ala1355Pro)
c.4054G>C (p.Ala1352Pro)
c.4045G>C (p.Ala1349Pro)
c.2383G>C (p.Ala795Pro)
Xg.108680917G>TCA413851158COL4A5c.4048G>T (p.Ala1350Ser)
c.4030G>T (p.Ala1344Ser)
n.542G>T
n.451G>T
c.4039G>T (p.Ala1347Ser)
c.3724G>T (p.Ala1242Ser)
c.1621G>T (p.Ala541Ser)
c.4063G>T (p.Ala1355Ser)
c.4054G>T (p.Ala1352Ser)
c.4045G>T (p.Ala1349Ser)
c.2383G>T (p.Ala795Ser)
 ClinVar COSMIC COSMIC
Xg.108680918C>ACA413851161COL4A5c.4049C>A (p.Ala1350Asp)
c.4031C>A (p.Ala1344Asp)
n.543C>A
n.452C>A
c.4040C>A (p.Ala1347Asp)
c.3725C>A (p.Ala1242Asp)
c.1622C>A (p.Ala541Asp)
c.4064C>A (p.Ala1355Asp)
c.4055C>A (p.Ala1352Asp)
c.4046C>A (p.Ala1349Asp)
c.2384C>A (p.Ala795Asp)
Xg.108680918C>GCA413851160COL4A5c.4049C>G (p.Ala1350Gly)
c.4031C>G (p.Ala1344Gly)
n.543C>G
n.452C>G
c.4040C>G (p.Ala1347Gly)
c.3725C>G (p.Ala1242Gly)
c.1622C>G (p.Ala541Gly)
c.4064C>G (p.Ala1355Gly)
c.4055C>G (p.Ala1352Gly)
c.4046C>G (p.Ala1349Gly)
c.2384C>G (p.Ala795Gly)
Xg.108680918C>TCA413851159COL4A5c.4049C>T (p.Ala1350Val)
c.4031C>T (p.Ala1344Val)
n.543C>T
n.452C>T
c.4040C>T (p.Ala1347Val)
c.3725C>T (p.Ala1242Val)
c.1622C>T (p.Ala541Val)
c.4064C>T (p.Ala1355Val)
c.4055C>T (p.Ala1352Val)
c.4046C>T (p.Ala1349Val)
c.2384C>T (p.Ala795Val)
 gnomAD v4
Xg.108680919T>ACA517923657COL4A5c.4050T>A (p.Ala1350=)
c.4032T>A (p.Ala1344=)
n.544T>A
n.453T>A
c.4041T>A (p.Ala1347=)
c.3726T>A (p.Ala1242=)
c.1623T>A (p.Ala541=)
c.4065T>A (p.Ala1355=)
c.4056T>A (p.Ala1352=)
c.4047T>A (p.Ala1349=)
c.2385T>A (p.Ala795=)
Xg.108680919T>CCA517923658COL4A5c.4050T>C (p.Ala1350=)
c.4032T>C (p.Ala1344=)
n.544T>C
n.453T>C
c.4041T>C (p.Ala1347=)
c.3726T>C (p.Ala1242=)
c.1623T>C (p.Ala541=)
c.4065T>C (p.Ala1355=)
c.4056T>C (p.Ala1352=)
c.4047T>C (p.Ala1349=)
c.2385T>C (p.Ala795=)
 ClinVar
Xg.108680919T>GCA517923659COL4A5c.4050T>G (p.Ala1350=)
c.4032T>G (p.Ala1344=)
n.544T>G
n.453T>G
c.4041T>G (p.Ala1347=)
c.3726T>G (p.Ala1242=)
c.1623T>G (p.Ala541=)
c.4065T>G (p.Ala1355=)
c.4056T>G (p.Ala1352=)
c.4047T>G (p.Ala1349=)
c.2385T>G (p.Ala795=)
Xg.108680920G>ACA413851162COL4A5c.4051G>A (p.Gly1351Ser)
c.4033G>A (p.Gly1345Ser)
n.545G>A
n.454G>A
c.4042G>A (p.Gly1348Ser)
c.3727G>A (p.Gly1243Ser)
c.1624G>A (p.Gly542Ser)
c.4066G>A (p.Gly1356Ser)
c.4057G>A (p.Gly1353Ser)
c.4048G>A (p.Gly1350Ser)
c.2386G>A (p.Gly796Ser)
Xg.108680920G>CCA413851163COL4A5c.4051G>C (p.Gly1351Arg)
c.4033G>C (p.Gly1345Arg)
n.545G>C
n.454G>C
c.4042G>C (p.Gly1348Arg)
c.3727G>C (p.Gly1243Arg)
c.1624G>C (p.Gly542Arg)
c.4066G>C (p.Gly1356Arg)
c.4057G>C (p.Gly1353Arg)
c.4048G>C (p.Gly1350Arg)
c.2386G>C (p.Gly796Arg)
Xg.108680920G>TCA413851164COL4A5c.4051G>T (p.Gly1351Cys)
c.4033G>T (p.Gly1345Cys)
n.545G>T
n.454G>T
c.4042G>T (p.Gly1348Cys)
c.3727G>T (p.Gly1243Cys)
c.1624G>T (p.Gly542Cys)
c.4066G>T (p.Gly1356Cys)
c.4057G>T (p.Gly1353Cys)
c.4048G>T (p.Gly1350Cys)
c.2386G>T (p.Gly796Cys)
Xg.108680921delCA2579677075COL4A5c.4052del (p.Gly1351AlafsTer26)
c.4034del (p.Gly1345AlafsTer26)
n.546del
n.455del
c.4043del (p.Gly1348AlafsTer26)
c.3728del (p.Gly1243AlafsTer26)
c.1625del (p.Gly542AlafsTer26)
c.4067del (p.Gly1356AlafsTer26)
c.4058del (p.Gly1353AlafsTer26)
c.4049del (p.Gly1350AlafsTer26)
c.2387del (p.Gly796AlafsTer26)
Xg.108680921G>ACA413851165COL4A5c.4052G>A (p.Gly1351Asp)
c.4034G>A (p.Gly1345Asp)
n.546G>A
n.455G>A
c.4043G>A (p.Gly1348Asp)
c.3728G>A (p.Gly1243Asp)
c.1625G>A (p.Gly542Asp)
c.4067G>A (p.Gly1356Asp)
c.4058G>A (p.Gly1353Asp)
c.4049G>A (p.Gly1350Asp)
c.2387G>A (p.Gly796Asp)
Xg.108680921G>CCA413851166COL4A5c.4052G>C (p.Gly1351Ala)
c.4034G>C (p.Gly1345Ala)
n.546G>C
n.455G>C
c.4043G>C (p.Gly1348Ala)
c.3728G>C (p.Gly1243Ala)
c.1625G>C (p.Gly542Ala)
c.4067G>C (p.Gly1356Ala)
c.4058G>C (p.Gly1353Ala)
c.4049G>C (p.Gly1350Ala)
c.2387G>C (p.Gly796Ala)
Xg.108680921G>TCA413851167COL4A5c.4052G>T (p.Gly1351Val)
c.4034G>T (p.Gly1345Val)
n.546G>T
n.455G>T
c.4043G>T (p.Gly1348Val)
c.3728G>T (p.Gly1243Val)
c.1625G>T (p.Gly542Val)
c.4067G>T (p.Gly1356Val)
c.4058G>T (p.Gly1353Val)
c.4049G>T (p.Gly1350Val)
c.2387G>T (p.Gly796Val)
 COSMIC COSMIC
Xg.108680922C>ACA517923660COL4A5c.4053C>A (p.Gly1351=)
c.4035C>A (p.Gly1345=)
n.547C>A
n.456C>A
c.4044C>A (p.Gly1348=)
c.3729C>A (p.Gly1243=)
c.1626C>A (p.Gly542=)
c.4068C>A (p.Gly1356=)
c.4059C>A (p.Gly1353=)
c.4050C>A (p.Gly1350=)
c.2388C>A (p.Gly796=)
Xg.108680922C>GCA517923661COL4A5c.4053C>G (p.Gly1351=)
c.4035C>G (p.Gly1345=)
n.547C>G
n.456C>G
c.4044C>G (p.Gly1348=)
c.3729C>G (p.Gly1243=)
c.1626C>G (p.Gly542=)
c.4068C>G (p.Gly1356=)
c.4059C>G (p.Gly1353=)
c.4050C>G (p.Gly1350=)
c.2388C>G (p.Gly796=)
Xg.108680922C>TCA517923662COL4A5c.4053C>T (p.Gly1351=)
c.4035C>T (p.Gly1345=)
n.547C>T
n.456C>T
c.4044C>T (p.Gly1348=)
c.3729C>T (p.Gly1243=)
c.1626C>T (p.Gly542=)
c.4068C>T (p.Gly1356=)
c.4059C>T (p.Gly1353=)
c.4050C>T (p.Gly1350=)
c.2388C>T (p.Gly796=)
Xg.108680924delCA2573055066COL4A5c.4055del (p.Pro1352LeufsTer25)
c.4037del (p.Pro1346LeufsTer25)
n.549del
n.458del
c.4046del (p.Pro1349LeufsTer25)
c.3731del (p.Pro1244LeufsTer25)
c.1628del (p.Pro543LeufsTer25)
c.4070del (p.Pro1357LeufsTer25)
c.4061del (p.Pro1354LeufsTer25)
c.4052del (p.Pro1351LeufsTer25)
c.2390del (p.Pro797LeufsTer25)
 ClinVar dbSNP
Xg.108680923C>ACA413851168COL4A5c.4054C>A (p.Pro1352Thr)
c.4036C>A (p.Pro1346Thr)
n.548C>A
n.457C>A
c.4045C>A (p.Pro1349Thr)
c.3730C>A (p.Pro1244Thr)
c.1627C>A (p.Pro543Thr)
c.4069C>A (p.Pro1357Thr)
c.4060C>A (p.Pro1354Thr)
c.4051C>A (p.Pro1351Thr)
c.2389C>A (p.Pro797Thr)
Xg.108680923C>GCA413851170COL4A5c.4054C>G (p.Pro1352Ala)
c.4036C>G (p.Pro1346Ala)
n.548C>G
n.457C>G
c.4045C>G (p.Pro1349Ala)
c.3730C>G (p.Pro1244Ala)
c.1627C>G (p.Pro543Ala)
c.4069C>G (p.Pro1357Ala)
c.4060C>G (p.Pro1354Ala)
c.4051C>G (p.Pro1351Ala)
c.2389C>G (p.Pro797Ala)
Xg.108680923C>TCA413851169COL4A5c.4054C>T (p.Pro1352Ser)
c.4036C>T (p.Pro1346Ser)
n.548C>T
n.457C>T
c.4045C>T (p.Pro1349Ser)
c.3730C>T (p.Pro1244Ser)
c.1627C>T (p.Pro543Ser)
c.4069C>T (p.Pro1357Ser)
c.4060C>T (p.Pro1354Ser)
c.4051C>T (p.Pro1351Ser)
c.2389C>T (p.Pro797Ser)
Xg.108680924C>ACA413851171COL4A5c.4055C>A (p.Pro1352His)
c.4037C>A (p.Pro1346His)
n.549C>A
n.458C>A
c.4046C>A (p.Pro1349His)
c.3731C>A (p.Pro1244His)
c.1628C>A (p.Pro543His)
c.4070C>A (p.Pro1357His)
c.4061C>A (p.Pro1354His)
c.4052C>A (p.Pro1351His)
c.2390C>A (p.Pro797His)
Xg.108680924C>GCA413851172COL4A5c.4055C>G (p.Pro1352Arg)
c.4037C>G (p.Pro1346Arg)
n.549C>G
n.458C>G
c.4046C>G (p.Pro1349Arg)
c.3731C>G (p.Pro1244Arg)
c.1628C>G (p.Pro543Arg)
c.4070C>G (p.Pro1357Arg)
c.4061C>G (p.Pro1354Arg)
c.4052C>G (p.Pro1351Arg)
c.2390C>G (p.Pro797Arg)
Xg.108680924C>TCA413851173COL4A5c.4055C>T (p.Pro1352Leu)
c.4037C>T (p.Pro1346Leu)
n.549C>T
n.458C>T
c.4046C>T (p.Pro1349Leu)
c.3731C>T (p.Pro1244Leu)
c.1628C>T (p.Pro543Leu)
c.4070C>T (p.Pro1357Leu)
c.4061C>T (p.Pro1354Leu)
c.4052C>T (p.Pro1351Leu)
c.2390C>T (p.Pro797Leu)
Xg.108680925T>ACA517923663COL4A5c.4056T>A (p.Pro1352=)
c.4038T>A (p.Pro1346=)
n.550T>A
n.459T>A
c.4047T>A (p.Pro1349=)
c.3732T>A (p.Pro1244=)
c.1629T>A (p.Pro543=)
c.4071T>A (p.Pro1357=)
c.4062T>A (p.Pro1354=)
c.4053T>A (p.Pro1351=)
c.2391T>A (p.Pro797=)
Xg.108680925T>CCA517923664COL4A5c.4056T>C (p.Pro1352=)
c.4038T>C (p.Pro1346=)
n.550T>C
n.459T>C
c.4047T>C (p.Pro1349=)
c.3732T>C (p.Pro1244=)
c.1629T>C (p.Pro543=)
c.4071T>C (p.Pro1357=)
c.4062T>C (p.Pro1354=)
c.4053T>C (p.Pro1351=)
c.2391T>C (p.Pro797=)
Xg.108680925T>GCA517923665COL4A5c.4056T>G (p.Pro1352=)
c.4038T>G (p.Pro1346=)
n.550T>G
n.459T>G
c.4047T>G (p.Pro1349=)
c.3732T>G (p.Pro1244=)
c.1629T>G (p.Pro543=)
c.4071T>G (p.Pro1357=)
c.4062T>G (p.Pro1354=)
c.4053T>G (p.Pro1351=)
c.2391T>G (p.Pro797=)
Xg.108680926G>ACA413851174COL4A5c.4057G>A (p.Glu1353Lys)
c.4039G>A (p.Glu1347Lys)
n.551G>A
n.460G>A
c.4048G>A (p.Glu1350Lys)
c.3733G>A (p.Glu1245Lys)
c.1630G>A (p.Glu544Lys)
c.4072G>A (p.Glu1358Lys)
c.4063G>A (p.Glu1355Lys)
c.4054G>A (p.Glu1352Lys)
c.2392G>A (p.Glu798Lys)
Xg.108680926G>CCA413851175COL4A5c.4057G>C (p.Glu1353Gln)
c.4039G>C (p.Glu1347Gln)
n.551G>C
n.460G>C
c.4048G>C (p.Glu1350Gln)
c.3733G>C (p.Glu1245Gln)
c.1630G>C (p.Glu544Gln)
c.4072G>C (p.Glu1358Gln)
c.4063G>C (p.Glu1355Gln)
c.4054G>C (p.Glu1352Gln)
c.2392G>C (p.Glu798Gln)
Xg.108680926G>TCA413851176COL4A5c.4057G>T (p.Glu1353Ter)
c.4039G>T (p.Glu1347Ter)
n.551G>T
n.460G>T
c.4048G>T (p.Glu1350Ter)
c.3733G>T (p.Glu1245Ter)
c.1630G>T (p.Glu544Ter)
c.4072G>T (p.Glu1358Ter)
c.4063G>T (p.Glu1355Ter)
c.4054G>T (p.Glu1352Ter)
c.2392G>T (p.Glu798Ter)
 ClinVar
Xg.108680927A>CCA413851177COL4A5c.4058A>C (p.Glu1353Ala)
c.4040A>C (p.Glu1347Ala)
n.552A>C
n.461A>C
c.4049A>C (p.Glu1350Ala)
c.3734A>C (p.Glu1245Ala)
c.1631A>C (p.Glu544Ala)
c.4073A>C (p.Glu1358Ala)
c.4064A>C (p.Glu1355Ala)
c.4055A>C (p.Glu1352Ala)
c.2393A>C (p.Glu798Ala)
Xg.108680927A>GCA413851178COL4A5c.4058A>G (p.Glu1353Gly)
c.4040A>G (p.Glu1347Gly)
n.552A>G
n.461A>G
c.4049A>G (p.Glu1350Gly)
c.3734A>G (p.Glu1245Gly)
c.1631A>G (p.Glu544Gly)
c.4073A>G (p.Glu1358Gly)
c.4064A>G (p.Glu1355Gly)
c.4055A>G (p.Glu1352Gly)
c.2393A>G (p.Glu798Gly)
Xg.108680927A>TCA413851179COL4A5c.4058A>T (p.Glu1353Val)
c.4040A>T (p.Glu1347Val)
n.552A>T
n.461A>T
c.4049A>T (p.Glu1350Val)
c.3734A>T (p.Glu1245Val)
c.1631A>T (p.Glu544Val)
c.4073A>T (p.Glu1358Val)
c.4064A>T (p.Glu1355Val)
c.4055A>T (p.Glu1352Val)
c.2393A>T (p.Glu798Val)
Xg.108680927_108680928delinsAGCA2450716908COL4A5c.4058_4059delinsAG (p.Glu1353=)
c.4040_4041delinsAG (p.Glu1347=)
n.552_553delinsAG
n.461_462delinsAG
c.4049_4050delinsAG (p.Glu1350=)
c.3734_3735delinsAG (p.Glu1245=)
c.1631_1632delinsAG (p.Glu544=)
c.4073_4074delinsAG (p.Glu1358=)
c.4064_4065delinsAG (p.Glu1355=)
c.4055_4056delinsAG (p.Glu1352=)
c.2393_2394delinsAG (p.Glu798=)
Xg.108680928G>ACA517923666COL4A5c.4059G>A (p.Glu1353=)
c.4041G>A (p.Glu1347=)
n.553G>A
n.462G>A
c.4050G>A (p.Glu1350=)
c.3735G>A (p.Glu1245=)
c.1632G>A (p.Glu544=)
c.4074G>A (p.Glu1358=)
c.4065G>A (p.Glu1355=)
c.4056G>A (p.Glu1352=)
c.2394G>A (p.Glu798=)
Xg.108680928G>CCA413851180COL4A5c.4059G>C (p.Glu1353Asp)
c.4041G>C (p.Glu1347Asp)
n.553G>C
n.462G>C
c.4050G>C (p.Glu1350Asp)
c.3735G>C (p.Glu1245Asp)
c.1632G>C (p.Glu544Asp)
c.4074G>C (p.Glu1358Asp)
c.4065G>C (p.Glu1355Asp)
c.4056G>C (p.Glu1352Asp)
c.2394G>C (p.Glu798Asp)
Xg.108680928G>TCA413851181COL4A5c.4059G>T (p.Glu1353Asp)
c.4041G>T (p.Glu1347Asp)
n.553G>T
n.462G>T
c.4050G>T (p.Glu1350Asp)
c.3735G>T (p.Glu1245Asp)
c.1632G>T (p.Glu544Asp)
c.4074G>T (p.Glu1358Asp)
c.4065G>T (p.Glu1355Asp)
c.4056G>T (p.Glu1352Asp)
c.2394G>T (p.Glu798Asp)
 gnomAD v4
Xg.108680932dupCA2695235670COL4A5c.4063dup (p.Glu1355GlyfsTer24)
c.4045dup (p.Glu1349GlyfsTer24)
n.557dup
n.466dup
c.4054dup (p.Glu1352GlyfsTer24)
c.3739dup (p.Glu1247GlyfsTer24)
c.1636dup (p.Glu546GlyfsTer24)
c.4078dup (p.Glu1360GlyfsTer24)
c.4069dup (p.Glu1357GlyfsTer24)
c.4060dup (p.Glu1354GlyfsTer24)
c.2398dup (p.Glu800GlyfsTer24)
Xg.108680932delCA658659033COL4A5c.4063del (p.Glu1355AsnfsTer22)
c.4045del (p.Glu1349AsnfsTer22)
n.557del
n.466del
c.4054del (p.Glu1352AsnfsTer22)
c.3739del (p.Glu1247AsnfsTer22)
c.1636del (p.Glu546AsnfsTer22)
c.4078del (p.Glu1360AsnfsTer22)
c.4069del (p.Glu1357AsnfsTer22)
c.4060del (p.Glu1354AsnfsTer22)
c.2398del (p.Glu800AsnfsTer22)
 ClinVar dbSNP
Xg.108680929G>ACA413851182COL4A5c.4060G>A (p.Gly1354Arg)
c.4042G>A (p.Gly1348Arg)
n.554G>A
n.463G>A
c.4051G>A (p.Gly1351Arg)
c.3736G>A (p.Gly1246Arg)
c.1633G>A (p.Gly545Arg)
c.4075G>A (p.Gly1359Arg)
c.4066G>A (p.Gly1356Arg)
c.4057G>A (p.Gly1353Arg)
c.2395G>A (p.Gly799Arg)
Xg.108680929G>CCA413851184COL4A5c.4060G>C (p.Gly1354Arg)
c.4042G>C (p.Gly1348Arg)
n.554G>C
n.463G>C
c.4051G>C (p.Gly1351Arg)
c.3736G>C (p.Gly1246Arg)
c.1633G>C (p.Gly545Arg)
c.4075G>C (p.Gly1359Arg)
c.4066G>C (p.Gly1356Arg)
c.4057G>C (p.Gly1353Arg)
c.2395G>C (p.Gly799Arg)
Xg.108680929G>TCA413851183COL4A5c.4060G>T (p.Gly1354Trp)
c.4042G>T (p.Gly1348Trp)
n.554G>T
n.463G>T
c.4051G>T (p.Gly1351Trp)
c.3736G>T (p.Gly1246Trp)
c.1633G>T (p.Gly545Trp)
c.4075G>T (p.Gly1359Trp)
c.4066G>T (p.Gly1356Trp)
c.4057G>T (p.Gly1353Trp)
c.2395G>T (p.Gly799Trp)
 ClinVar
Xg.108680930G>ACA413851185COL4A5c.4061G>A (p.Gly1354Glu)
c.4043G>A (p.Gly1348Glu)
n.555G>A
n.464G>A
c.4052G>A (p.Gly1351Glu)
c.3737G>A (p.Gly1246Glu)
c.1634G>A (p.Gly545Glu)
c.4076G>A (p.Gly1359Glu)
c.4067G>A (p.Gly1356Glu)
c.4058G>A (p.Gly1353Glu)
c.2396G>A (p.Gly799Glu)
 COSMIC COSMIC
Xg.108680930G>CCA413851186COL4A5c.4061G>C (p.Gly1354Ala)
c.4043G>C (p.Gly1348Ala)
n.555G>C
n.464G>C
c.4052G>C (p.Gly1351Ala)
c.3737G>C (p.Gly1246Ala)
c.1634G>C (p.Gly545Ala)
c.4076G>C (p.Gly1359Ala)
c.4067G>C (p.Gly1356Ala)
c.4058G>C (p.Gly1353Ala)
c.2396G>C (p.Gly799Ala)
Xg.108680930G>TCA413851187COL4A5c.4061G>T (p.Gly1354Val)
c.4043G>T (p.Gly1348Val)
n.555G>T
n.464G>T
c.4052G>T (p.Gly1351Val)
c.3737G>T (p.Gly1246Val)
c.1634G>T (p.Gly545Val)
c.4076G>T (p.Gly1359Val)
c.4067G>T (p.Gly1356Val)
c.4058G>T (p.Gly1353Val)
c.2396G>T (p.Gly799Val)
Xg.108680930_108680931delinsATCA2740097970COL4A5c.4061_4062delinsAT (p.Gly1354Asp)
c.4043_4044delinsAT (p.Gly1348Asp)
n.555_556delinsAT
n.464_465delinsAT
c.4052_4053delinsAT (p.Gly1351Asp)
c.3737_3738delinsAT (p.Gly1246Asp)
c.1634_1635delinsAT (p.Gly545Asp)
c.4076_4077delinsAT (p.Gly1359Asp)
c.4067_4068delinsAT (p.Gly1356Asp)
c.4058_4059delinsAT (p.Gly1353Asp)
c.2396_2397delinsAT (p.Gly799Asp)
 ClinVar
Xg.108680930_108680939delinsAGGACA2695235671COL4A5c.4061_4070delinsAGGA (p.Gly1354_Gly1357delinsGluGlu)
c.4043_4052delinsAGGA (p.Gly1348_Gly1351delinsGluGlu)
n.555_564delinsAGGA
n.464_473delinsAGGA
c.4052_4061delinsAGGA (p.Gly1351_Gly1354delinsGluGlu)
c.3737_3746delinsAGGA (p.Gly1246_Gly1249delinsGluGlu)
c.1634_1643delinsAGGA (p.Gly545_Gly548delinsGluGlu)
c.4076_4085delinsAGGA (p.Gly1359_Gly1362delinsGluGlu)
c.4067_4076delinsAGGA (p.Gly1356_Gly1359delinsGluGlu)
c.4058_4067delinsAGGA (p.Gly1353_Gly1356delinsGluGlu)
c.2396_2405delinsAGGA (p.Gly799_Gly802delinsGluGlu)

Number of alleles fetched