Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227021990G>ACA2577263141COL4A4c.4216+58C>T (n.4216+58C>T)
c.3661+58C>T (n.3661+58C>T)
c.4135+58C>T (n.4135+58C>T)
c.4108+58C>T (n.4108+58C>T)
c.2542+58C>T (n.2542+58C>T)
n.4526+58C>T
c.4099+58C>T (n.4099+58C>T)
n.4542+58C>T
 gnomAD v4
2g.227021990G>CCA2607551023COL4A4c.4216+58C>G (n.4216+58C>G)
c.3661+58C>G (n.3661+58C>G)
c.4135+58C>G (n.4135+58C>G)
c.4108+58C>G (n.4108+58C>G)
c.2542+58C>G (n.2542+58C>G)
n.4526+58C>G
c.4099+58C>G (n.4099+58C>G)
n.4542+58C>G
 dbSNP gnomAD v3 gnomAD v4
2g.227021992A=CA1332730222COL4A4c.4216+56T= (n.4216+56T=)
c.3661+56T= (n.3661+56T=)
c.4135+56T= (n.4135+56T=)
c.4108+56T= (n.4108+56T=)
c.2542+56T= (n.2542+56T=)
n.4526+56T=
c.4099+56T= (n.4099+56T=)
n.4542+56T=
2g.227021992A>CCA2663405533COL4A4c.4216+56T>G (n.4216+56T>G)
c.3661+56T>G (n.3661+56T>G)
c.4135+56T>G (n.4135+56T>G)
c.4108+56T>G (n.4108+56T>G)
c.2542+56T>G (n.2542+56T>G)
n.4526+56T>G
c.4099+56T>G (n.4099+56T>G)
n.4542+56T>G
 gnomAD v4
2g.227021992A>GCA66552248COL4A4c.4216+56T>C (n.4216+56T>C)
c.3661+56T>C (n.3661+56T>C)
c.4135+56T>C (n.4135+56T>C)
c.4108+56T>C (n.4108+56T>C)
c.2542+56T>C (n.2542+56T>C)
n.4526+56T>C
c.4099+56T>C (n.4099+56T>C)
n.4542+56T>C
 dbSNP
2g.227021994T>ACA2663405534COL4A4c.4216+54A>T (n.4216+54A>T)
c.3661+54A>T (n.3661+54A>T)
c.4135+54A>T (n.4135+54A>T)
c.4108+54A>T (n.4108+54A>T)
c.2542+54A>T (n.2542+54A>T)
n.4526+54A>T
c.4099+54A>T (n.4099+54A>T)
n.4542+54A>T
 gnomAD v4
2g.227021994T>GCA2663405535COL4A4c.4216+54A>C (n.4216+54A>C)
c.3661+54A>C (n.3661+54A>C)
c.4135+54A>C (n.4135+54A>C)
c.4108+54A>C (n.4108+54A>C)
c.2542+54A>C (n.2542+54A>C)
n.4526+54A>C
c.4099+54A>C (n.4099+54A>C)
n.4542+54A>C
 gnomAD v4
2g.227021995T>ACA2754508169COL4A4c.4216+53A>T (n.4216+53A>T)
c.3661+53A>T (n.3661+53A>T)
c.4135+53A>T (n.4135+53A>T)
c.4108+53A>T (n.4108+53A>T)
c.2542+53A>T (n.2542+53A>T)
n.4526+53A>T
c.4099+53A>T (n.4099+53A>T)
n.4542+53A>T
2g.227021995T>CCA2565200458COL4A4c.4216+53A>G (n.4216+53A>G)
c.3661+53A>G (n.3661+53A>G)
c.4135+53A>G (n.4135+53A>G)
c.4108+53A>G (n.4108+53A>G)
c.2542+53A>G (n.2542+53A>G)
n.4526+53A>G
c.4099+53A>G (n.4099+53A>G)
n.4542+53A>G
2g.227021996C=CA1332730223COL4A4c.4216+52G= (n.4216+52G=)
c.3661+52G= (n.3661+52G=)
c.4135+52G= (n.4135+52G=)
c.4108+52G= (n.4108+52G=)
c.2542+52G= (n.2542+52G=)
n.4526+52G=
c.4099+52G= (n.4099+52G=)
n.4542+52G=
2g.227021996C>TCA765645234COL4A4c.4216+52G>A (n.4216+52G>A)
c.3661+52G>A (n.3661+52G>A)
c.4135+52G>A (n.4135+52G>A)
c.4108+52G>A (n.4108+52G>A)
c.2542+52G>A (n.2542+52G>A)
n.4526+52G>A
c.4099+52G>A (n.4099+52G>A)
n.4542+52G>A
 dbSNP
2g.227021997A=CA1332730224COL4A4c.4216+51T= (n.4216+51T=)
c.3661+51T= (n.3661+51T=)
c.4135+51T= (n.4135+51T=)
c.4108+51T= (n.4108+51T=)
c.2542+51T= (n.2542+51T=)
n.4526+51T=
c.4099+51T= (n.4099+51T=)
n.4542+51T=
2g.227022000dupCA1332730225COL4A4c.4216+50dup (n.4216+50dup)
c.3661+50dup (n.3661+50dup)
c.4135+50dup (n.4135+50dup)
c.4108+50dup (n.4108+50dup)
c.2542+50dup (n.2542+50dup)
n.4526+50dup
c.4099+50dup (n.4099+50dup)
n.4542+50dup
 dbSNP
2g.227022000T>ACA2663405536COL4A4c.4216+48A>T (n.4216+48A>T)
c.3661+48A>T (n.3661+48A>T)
c.4135+48A>T (n.4135+48A>T)
c.4108+48A>T (n.4108+48A>T)
c.2542+48A>T (n.2542+48A>T)
n.4526+48A>T
c.4099+48A>T (n.4099+48A>T)
n.4542+48A>T
 gnomAD v4
2g.227022000T>CCA2663405537COL4A4c.4216+48A>G (n.4216+48A>G)
c.3661+48A>G (n.3661+48A>G)
c.4135+48A>G (n.4135+48A>G)
c.4108+48A>G (n.4108+48A>G)
c.2542+48A>G (n.2542+48A>G)
n.4526+48A>G
c.4099+48A>G (n.4099+48A>G)
n.4542+48A>G
 gnomAD v4
2g.227022001C=CA1332730226COL4A4c.4216+47G= (n.4216+47G=)
c.3661+47G= (n.3661+47G=)
c.4135+47G= (n.4135+47G=)
c.4108+47G= (n.4108+47G=)
c.2542+47G= (n.2542+47G=)
n.4526+47G=
c.4099+47G= (n.4099+47G=)
n.4542+47G=
2g.227022001C>TCA539868755COL4A4c.4216+47G>A (n.4216+47G>A)
c.3661+47G>A (n.3661+47G>A)
c.4135+47G>A (n.4135+47G>A)
c.4108+47G>A (n.4108+47G>A)
c.2542+47G>A (n.2542+47G>A)
n.4526+47G>A
c.4099+47G>A (n.4099+47G>A)
n.4542+47G>A
 dbSNP gnomAD v2 gnomAD v4
2g.227022002A>GCA2577263142COL4A4c.4216+46T>C (n.4216+46T>C)
c.3661+46T>C (n.3661+46T>C)
c.4135+46T>C (n.4135+46T>C)
c.4108+46T>C (n.4108+46T>C)
c.2542+46T>C (n.2542+46T>C)
n.4526+46T>C
c.4099+46T>C (n.4099+46T>C)
n.4542+46T>C
 gnomAD v4
2g.227022003G=CA1332730227COL4A4c.4216+45C= (n.4216+45C=)
c.3661+45C= (n.3661+45C=)
c.4135+45C= (n.4135+45C=)
c.4108+45C= (n.4108+45C=)
c.2542+45C= (n.2542+45C=)
n.4526+45C=
c.4099+45C= (n.4099+45C=)
n.4542+45C=
2g.227022003G>TCA2144239COL4A4c.4216+45C>A (n.4216+45C>A)
c.3661+45C>A (n.3661+45C>A)
c.4135+45C>A (n.4135+45C>A)
c.4108+45C>A (n.4108+45C>A)
c.2542+45C>A (n.2542+45C>A)
n.4526+45C>A
c.4099+45C>A (n.4099+45C>A)
n.4542+45C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022006A>CCA2577263143COL4A4c.4216+42T>G (n.4216+42T>G)
c.3661+42T>G (n.3661+42T>G)
c.4135+42T>G (n.4135+42T>G)
c.4108+42T>G (n.4108+42T>G)
c.2542+42T>G (n.2542+42T>G)
n.4526+42T>G
c.4099+42T>G (n.4099+42T>G)
n.4542+42T>G
2g.227022006A>TCA2663405538COL4A4c.4216+42T>A (n.4216+42T>A)
c.3661+42T>A (n.3661+42T>A)
c.4135+42T>A (n.4135+42T>A)
c.4108+42T>A (n.4108+42T>A)
c.2542+42T>A (n.2542+42T>A)
n.4526+42T>A
c.4099+42T>A (n.4099+42T>A)
n.4542+42T>A
 gnomAD v4
2g.227022007T>CCA2663405539COL4A4c.4216+41A>G (n.4216+41A>G)
c.3661+41A>G (n.3661+41A>G)
c.4135+41A>G (n.4135+41A>G)
c.4108+41A>G (n.4108+41A>G)
c.2542+41A>G (n.2542+41A>G)
n.4526+41A>G
c.4099+41A>G (n.4099+41A>G)
n.4542+41A>G
 gnomAD v4
2g.227022008A>GCA2577263144COL4A4c.4216+40T>C (n.4216+40T>C)
c.3661+40T>C (n.3661+40T>C)
c.4135+40T>C (n.4135+40T>C)
c.4108+40T>C (n.4108+40T>C)
c.2542+40T>C (n.2542+40T>C)
n.4526+40T>C
c.4099+40T>C (n.4099+40T>C)
n.4542+40T>C
 gnomAD v4
2g.227022008A>TCA2577263145COL4A4c.4216+40T>A (n.4216+40T>A)
c.3661+40T>A (n.3661+40T>A)
c.4135+40T>A (n.4135+40T>A)
c.4108+40T>A (n.4108+40T>A)
c.2542+40T>A (n.2542+40T>A)
n.4526+40T>A
c.4099+40T>A (n.4099+40T>A)
n.4542+40T>A
 gnomAD v4
2g.227022009T>ACA66552257COL4A4c.4216+39A>T (n.4216+39A>T)
c.3661+39A>T (n.3661+39A>T)
c.4135+39A>T (n.4135+39A>T)
c.4108+39A>T (n.4108+39A>T)
c.2542+39A>T (n.2542+39A>T)
n.4526+39A>T
c.4099+39A>T (n.4099+39A>T)
n.4542+39A>T
 dbSNP gnomAD v4
2g.227022009T>CCA2577263146COL4A4c.4216+39A>G (n.4216+39A>G)
c.3661+39A>G (n.3661+39A>G)
c.4135+39A>G (n.4135+39A>G)
c.4108+39A>G (n.4108+39A>G)
c.2542+39A>G (n.2542+39A>G)
n.4526+39A>G
c.4099+39A>G (n.4099+39A>G)
n.4542+39A>G
2g.227022009T=CA1332730228COL4A4c.4216+39A= (n.4216+39A=)
c.3661+39A= (n.3661+39A=)
c.4135+39A= (n.4135+39A=)
c.4108+39A= (n.4108+39A=)
c.2542+39A= (n.2542+39A=)
n.4526+39A=
c.4099+39A= (n.4099+39A=)
n.4542+39A=
2g.227022010_227022011delinsATCA1332730229COL4A4c.4216+37_4216+38delinsAT (n.4216+37_4216+38delinsAT)
c.3661+37_3661+38delinsAT (n.3661+37_3661+38delinsAT)
c.4135+37_4135+38delinsAT (n.4135+37_4135+38delinsAT)
c.4108+37_4108+38delinsAT (n.4108+37_4108+38delinsAT)
c.2542+37_2542+38delinsAT (n.2542+37_2542+38delinsAT)
n.4526+37_4526+38delinsAT
c.4099+37_4099+38delinsAT (n.4099+37_4099+38delinsAT)
n.4542+37_4542+38delinsAT
2g.227022011delCA2144240COL4A4c.4216+37del (n.4216+37del)
c.3661+37del (n.3661+37del)
c.4135+37del (n.4135+37del)
c.4108+37del (n.4108+37del)
c.2542+37del (n.2542+37del)
n.4526+37del
c.4099+37del (n.4099+37del)
n.4542+37del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227022012C>ACA2569705927COL4A4c.4216+36G>T (n.4216+36G>T)
c.3661+36G>T (n.3661+36G>T)
c.4135+36G>T (n.4135+36G>T)
c.4108+36G>T (n.4108+36G>T)
c.2542+36G>T (n.2542+36G>T)
n.4526+36G>T
c.4099+36G>T (n.4099+36G>T)
n.4542+36G>T
 gnomAD v4
2g.227022013A>GCA2607551024COL4A4c.4216+35T>C (n.4216+35T>C)
c.3661+35T>C (n.3661+35T>C)
c.4135+35T>C (n.4135+35T>C)
c.4108+35T>C (n.4108+35T>C)
c.2542+35T>C (n.2542+35T>C)
n.4526+35T>C
c.4099+35T>C (n.4099+35T>C)
n.4542+35T>C
 dbSNP gnomAD v3 gnomAD v4
2g.227022014T>CCA2144241COL4A4c.4216+34A>G (n.4216+34A>G)
c.3661+34A>G (n.3661+34A>G)
c.4135+34A>G (n.4135+34A>G)
c.4108+34A>G (n.4108+34A>G)
c.2542+34A>G (n.2542+34A>G)
n.4526+34A>G
c.4099+34A>G (n.4099+34A>G)
n.4542+34A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227022014T=CA1332730230COL4A4c.4216+34A= (n.4216+34A=)
c.3661+34A= (n.3661+34A=)
c.4135+34A= (n.4135+34A=)
c.4108+34A= (n.4108+34A=)
c.2542+34A= (n.2542+34A=)
n.4526+34A=
c.4099+34A= (n.4099+34A=)
n.4542+34A=
2g.227022015G=CA1332730231COL4A4c.4216+33C= (n.4216+33C=)
c.3661+33C= (n.3661+33C=)
c.4135+33C= (n.4135+33C=)
c.4108+33C= (n.4108+33C=)
c.2542+33C= (n.2542+33C=)
n.4526+33C=
c.4099+33C= (n.4099+33C=)
n.4542+33C=
2g.227022015G>TCA539868756COL4A4c.4216+33C>A (n.4216+33C>A)
c.3661+33C>A (n.3661+33C>A)
c.4135+33C>A (n.4135+33C>A)
c.4108+33C>A (n.4108+33C>A)
c.2542+33C>A (n.2542+33C>A)
n.4526+33C>A
c.4099+33C>A (n.4099+33C>A)
n.4542+33C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227022016A>GCA2663405540COL4A4c.4216+32T>C (n.4216+32T>C)
c.3661+32T>C (n.3661+32T>C)
c.4135+32T>C (n.4135+32T>C)
c.4108+32T>C (n.4108+32T>C)
c.2542+32T>C (n.2542+32T>C)
n.4526+32T>C
c.4099+32T>C (n.4099+32T>C)
n.4542+32T>C
 gnomAD v4
2g.227022019A=CA1332730232COL4A4c.4216+29T= (n.4216+29T=)
c.3661+29T= (n.3661+29T=)
c.4135+29T= (n.4135+29T=)
c.4108+29T= (n.4108+29T=)
c.2542+29T= (n.2542+29T=)
n.4526+29T=
c.4099+29T= (n.4099+29T=)
n.4542+29T=
2g.227022019A>GCA66552271COL4A4c.4216+29T>C (n.4216+29T>C)
c.3661+29T>C (n.3661+29T>C)
c.4135+29T>C (n.4135+29T>C)
c.4108+29T>C (n.4108+29T>C)
c.2542+29T>C (n.2542+29T>C)
n.4526+29T>C
c.4099+29T>C (n.4099+29T>C)
n.4542+29T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227022024G>CCA1332730234COL4A4c.4216+24C>G (n.4216+24C>G)
c.3661+24C>G (n.3661+24C>G)
c.4135+24C>G (n.4135+24C>G)
c.4108+24C>G (n.4108+24C>G)
c.2542+24C>G (n.2542+24C>G)
n.4526+24C>G
c.4099+24C>G (n.4099+24C>G)
n.4542+24C>G
 dbSNP
2g.227022024G=CA1332730233COL4A4c.4216+24C= (n.4216+24C=)
c.3661+24C= (n.3661+24C=)
c.4135+24C= (n.4135+24C=)
c.4108+24C= (n.4108+24C=)
c.2542+24C= (n.2542+24C=)
n.4526+24C=
c.4099+24C= (n.4099+24C=)
n.4542+24C=
2g.227022024G>TCA2663405541COL4A4c.4216+24C>A (n.4216+24C>A)
c.3661+24C>A (n.3661+24C>A)
c.4135+24C>A (n.4135+24C>A)
c.4108+24C>A (n.4108+24C>A)
c.2542+24C>A (n.2542+24C>A)
n.4526+24C>A
c.4099+24C>A (n.4099+24C>A)
n.4542+24C>A
 gnomAD v4
2g.227022026A=CA1332730235COL4A4c.4216+22T= (n.4216+22T=)
c.3661+22T= (n.3661+22T=)
c.4135+22T= (n.4135+22T=)
c.4108+22T= (n.4108+22T=)
c.2542+22T= (n.2542+22T=)
n.4526+22T=
c.4099+22T= (n.4099+22T=)
n.4542+22T=
2g.227022026A>GCA1332730236COL4A4c.4216+22T>C (n.4216+22T>C)
c.3661+22T>C (n.3661+22T>C)
c.4135+22T>C (n.4135+22T>C)
c.4108+22T>C (n.4108+22T>C)
c.2542+22T>C (n.2542+22T>C)
n.4526+22T>C
c.4099+22T>C (n.4099+22T>C)
n.4542+22T>C
 dbSNP gnomAD v4
2g.227022029A>CCA647579962COL4A4c.4216+19T>G (n.4216+19T>G)
c.3661+19T>G (n.3661+19T>G)
c.4135+19T>G (n.4135+19T>G)
c.4108+19T>G (n.4108+19T>G)
c.2542+19T>G (n.2542+19T>G)
n.4526+19T>G
c.4099+19T>G (n.4099+19T>G)
n.4542+19T>G
 COSMIC
2g.227022029A>TCA2663405542COL4A4c.4216+19T>A (n.4216+19T>A)
c.3661+19T>A (n.3661+19T>A)
c.4135+19T>A (n.4135+19T>A)
c.4108+19T>A (n.4108+19T>A)
c.2542+19T>A (n.2542+19T>A)
n.4526+19T>A
c.4099+19T>A (n.4099+19T>A)
n.4542+19T>A
 gnomAD v4
2g.227022030T>CCA539868759COL4A4c.4216+18A>G (n.4216+18A>G)
c.3661+18A>G (n.3661+18A>G)
c.4135+18A>G (n.4135+18A>G)
c.4108+18A>G (n.4108+18A>G)
c.2542+18A>G (n.2542+18A>G)
n.4526+18A>G
c.4099+18A>G (n.4099+18A>G)
n.4542+18A>G
 dbSNP gnomAD v2 gnomAD v4
2g.227022030T=CA1332730237COL4A4c.4216+18A= (n.4216+18A=)
c.3661+18A= (n.3661+18A=)
c.4135+18A= (n.4135+18A=)
c.4108+18A= (n.4108+18A=)
c.2542+18A= (n.2542+18A=)
n.4526+18A=
c.4099+18A= (n.4099+18A=)
n.4542+18A=
2g.227022031C>TCA2663405543COL4A4c.4216+17G>A (n.4216+17G>A)
c.3661+17G>A (n.3661+17G>A)
c.4135+17G>A (n.4135+17G>A)
c.4108+17G>A (n.4108+17G>A)
c.2542+17G>A (n.2542+17G>A)
n.4526+17G>A
c.4099+17G>A (n.4099+17G>A)
n.4542+17G>A
 gnomAD v4
2g.227022032A=CA1332730238COL4A4c.4216+16T= (n.4216+16T=)
c.3661+16T= (n.3661+16T=)
c.4135+16T= (n.4135+16T=)
c.4108+16T= (n.4108+16T=)
c.2542+16T= (n.2542+16T=)
n.4526+16T=
c.4099+16T= (n.4099+16T=)
n.4542+16T=
2g.227022032A>GCA2144242COL4A4c.4216+16T>C (n.4216+16T>C)
c.3661+16T>C (n.3661+16T>C)
c.4135+16T>C (n.4135+16T>C)
c.4108+16T>C (n.4108+16T>C)
c.2542+16T>C (n.2542+16T>C)
n.4526+16T>C
c.4099+16T>C (n.4099+16T>C)
n.4542+16T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022033G>ACA765645253COL4A4c.4216+15C>T (n.4216+15C>T)
c.3661+15C>T (n.3661+15C>T)
c.4135+15C>T (n.4135+15C>T)
c.4108+15C>T (n.4108+15C>T)
c.2542+15C>T (n.2542+15C>T)
n.4526+15C>T
c.4099+15C>T (n.4099+15C>T)
n.4542+15C>T
 ClinVar dbSNP
2g.227022033G=CA1332730239COL4A4c.4216+15C= (n.4216+15C=)
c.3661+15C= (n.3661+15C=)
c.4135+15C= (n.4135+15C=)
c.4108+15C= (n.4108+15C=)
c.2542+15C= (n.2542+15C=)
n.4526+15C=
c.4099+15C= (n.4099+15C=)
n.4542+15C=
2g.227022033G>TCA2663405544COL4A4c.4216+15C>A (n.4216+15C>A)
c.3661+15C>A (n.3661+15C>A)
c.4135+15C>A (n.4135+15C>A)
c.4108+15C>A (n.4108+15C>A)
c.2542+15C>A (n.2542+15C>A)
n.4526+15C>A
c.4099+15C>A (n.4099+15C>A)
n.4542+15C>A
 gnomAD v4
2g.227022034C>ACA2663405545COL4A4c.4216+14G>T (n.4216+14G>T)
c.3661+14G>T (n.3661+14G>T)
c.4135+14G>T (n.4135+14G>T)
c.4108+14G>T (n.4108+14G>T)
c.2542+14G>T (n.2542+14G>T)
n.4526+14G>T
c.4099+14G>T (n.4099+14G>T)
n.4542+14G>T
 gnomAD v4
2g.227022035A=CA1332730240COL4A4c.4216+13T= (n.4216+13T=)
c.3661+13T= (n.3661+13T=)
c.4135+13T= (n.4135+13T=)
c.4108+13T= (n.4108+13T=)
c.2542+13T= (n.2542+13T=)
n.4526+13T=
c.4099+13T= (n.4099+13T=)
n.4542+13T=
2g.227022035A>CCA2663405546COL4A4c.4216+13T>G (n.4216+13T>G)
c.3661+13T>G (n.3661+13T>G)
c.4135+13T>G (n.4135+13T>G)
c.4108+13T>G (n.4108+13T>G)
c.2542+13T>G (n.2542+13T>G)
n.4526+13T>G
c.4099+13T>G (n.4099+13T>G)
n.4542+13T>G
 gnomAD v4
2g.227022035A>GCA539868762COL4A4c.4216+13T>C (n.4216+13T>C)
c.3661+13T>C (n.3661+13T>C)
c.4135+13T>C (n.4135+13T>C)
c.4108+13T>C (n.4108+13T>C)
c.2542+13T>C (n.2542+13T>C)
n.4526+13T>C
c.4099+13T>C (n.4099+13T>C)
n.4542+13T>C
 dbSNP gnomAD v2
2g.227022036T>CCA539868763COL4A4c.4216+12A>G (n.4216+12A>G)
c.3661+12A>G (n.3661+12A>G)
c.4135+12A>G (n.4135+12A>G)
c.4108+12A>G (n.4108+12A>G)
c.2542+12A>G (n.2542+12A>G)
n.4526+12A>G
c.4099+12A>G (n.4099+12A>G)
n.4542+12A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227022036T=CA1332730241COL4A4c.4216+12A= (n.4216+12A=)
c.3661+12A= (n.3661+12A=)
c.4135+12A= (n.4135+12A=)
c.4108+12A= (n.4108+12A=)
c.2542+12A= (n.2542+12A=)
n.4526+12A=
c.4099+12A= (n.4099+12A=)
n.4542+12A=
2g.227022037G>ACA2144243COL4A4c.4216+11C>T (n.4216+11C>T)
c.3661+11C>T (n.3661+11C>T)
c.4135+11C>T (n.4135+11C>T)
c.4108+11C>T (n.4108+11C>T)
c.2542+11C>T (n.2542+11C>T)
n.4526+11C>T
c.4099+11C>T (n.4099+11C>T)
n.4542+11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227022037G=CA1332730242COL4A4c.4216+11C= (n.4216+11C=)
c.3661+11C= (n.3661+11C=)
c.4135+11C= (n.4135+11C=)
c.4108+11C= (n.4108+11C=)
c.2542+11C= (n.2542+11C=)
n.4526+11C=
c.4099+11C= (n.4099+11C=)
n.4542+11C=
2g.227022038C>ACA66552291COL4A4c.4216+10G>T (n.4216+10G>T)
c.3661+10G>T (n.3661+10G>T)
c.4135+10G>T (n.4135+10G>T)
c.4108+10G>T (n.4108+10G>T)
c.2542+10G>T (n.2542+10G>T)
n.4526+10G>T
c.4099+10G>T (n.4099+10G>T)
n.4542+10G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227022038C=CA1332730243COL4A4c.4216+10G= (n.4216+10G=)
c.3661+10G= (n.3661+10G=)
c.4135+10G= (n.4135+10G=)
c.4108+10G= (n.4108+10G=)
c.2542+10G= (n.2542+10G=)
n.4526+10G=
c.4099+10G= (n.4099+10G=)
n.4542+10G=
2g.227022038C>GCA539868765COL4A4c.4216+10G>C (n.4216+10G>C)
c.3661+10G>C (n.3661+10G>C)
c.4135+10G>C (n.4135+10G>C)
c.4108+10G>C (n.4108+10G>C)
c.2542+10G>C (n.2542+10G>C)
n.4526+10G>C
c.4099+10G>C (n.4099+10G>C)
n.4542+10G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227022038C>TCA2144244COL4A4c.4216+10G>A (n.4216+10G>A)
c.3661+10G>A (n.3661+10G>A)
c.4135+10G>A (n.4135+10G>A)
c.4108+10G>A (n.4108+10G>A)
c.2542+10G>A (n.2542+10G>A)
n.4526+10G>A
c.4099+10G>A (n.4099+10G>A)
n.4542+10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022039G>ACA2144245COL4A4c.4216+9C>T (n.4216+9C>T)
c.3661+9C>T (n.3661+9C>T)
c.4135+9C>T (n.4135+9C>T)
c.4108+9C>T (n.4108+9C>T)
c.2542+9C>T (n.2542+9C>T)
n.4526+9C>T
c.4099+9C>T (n.4099+9C>T)
n.4542+9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.227022039G=CA1332730244COL4A4c.4216+9C= (n.4216+9C=)
c.3661+9C= (n.3661+9C=)
c.4135+9C= (n.4135+9C=)
c.4108+9C= (n.4108+9C=)
c.2542+9C= (n.2542+9C=)
n.4526+9C=
c.4099+9C= (n.4099+9C=)
n.4542+9C=
2g.227022039G>TCA431494628COL4A4c.4216+9C>A (n.4216+9C>A)
c.3661+9C>A (n.3661+9C>A)
c.4135+9C>A (n.4135+9C>A)
c.4108+9C>A (n.4108+9C>A)
c.2542+9C>A (n.2542+9C>A)
n.4526+9C>A
c.4099+9C>A (n.4099+9C>A)
n.4542+9C>A
 COSMIC
2g.227022040G>ACA645518635COL4A4c.4216+8C>T (n.4216+8C>T)
c.3661+8C>T (n.3661+8C>T)
c.4135+8C>T (n.4135+8C>T)
c.4108+8C>T (n.4108+8C>T)
c.2542+8C>T (n.2542+8C>T)
n.4526+8C>T
c.4099+8C>T (n.4099+8C>T)
n.4542+8C>T
 ClinVar dbSNP COSMIC
2g.227022040G>CCA2144246COL4A4c.4216+8C>G (n.4216+8C>G)
c.3661+8C>G (n.3661+8C>G)
c.4135+8C>G (n.4135+8C>G)
c.4108+8C>G (n.4108+8C>G)
c.2542+8C>G (n.2542+8C>G)
n.4526+8C>G
c.4099+8C>G (n.4099+8C>G)
n.4542+8C>G
 dbSNP ExAC gnomAD v2
2g.227022040G=CA1332730245COL4A4c.4216+8C= (n.4216+8C=)
c.3661+8C= (n.3661+8C=)
c.4135+8C= (n.4135+8C=)
c.4108+8C= (n.4108+8C=)
c.2542+8C= (n.2542+8C=)
n.4526+8C=
c.4099+8C= (n.4099+8C=)
n.4542+8C=
2g.227022040G>TCA2580065816COL4A4c.4216+8C>A (n.4216+8C>A)
c.3661+8C>A (n.3661+8C>A)
c.4135+8C>A (n.4135+8C>A)
c.4108+8C>A (n.4108+8C>A)
c.2542+8C>A (n.2542+8C>A)
n.4526+8C>A
c.4099+8C>A (n.4099+8C>A)
n.4542+8C>A
 ClinVar
2g.227022041C=CA1332730246COL4A4c.4216+7G= (n.4216+7G=)
c.3661+7G= (n.3661+7G=)
c.4135+7G= (n.4135+7G=)
c.4108+7G= (n.4108+7G=)
c.2542+7G= (n.2542+7G=)
n.4526+7G=
c.4099+7G= (n.4099+7G=)
n.4542+7G=
2g.227022041C>GCA2701628127COL4A4c.4216+7G>C (n.4216+7G>C)
c.3661+7G>C (n.3661+7G>C)
c.4135+7G>C (n.4135+7G>C)
c.4108+7G>C (n.4108+7G>C)
c.2542+7G>C (n.2542+7G>C)
n.4526+7G>C
c.4099+7G>C (n.4099+7G>C)
n.4542+7G>C
 dbSNP
2g.227022041C>TCA2144247COL4A4c.4216+7G>A (n.4216+7G>A)
c.3661+7G>A (n.3661+7G>A)
c.4135+7G>A (n.4135+7G>A)
c.4108+7G>A (n.4108+7G>A)
c.2542+7G>A (n.2542+7G>A)
n.4526+7G>A
c.4099+7G>A (n.4099+7G>A)
n.4542+7G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022044A=CA1332730247COL4A4c.4216+4T= (n.4216+4T=)
c.3661+4T= (n.3661+4T=)
c.4135+4T= (n.4135+4T=)
c.4108+4T= (n.4108+4T=)
c.2542+4T= (n.2542+4T=)
n.4526+4T=
c.4099+4T= (n.4099+4T=)
n.4542+4T=
2g.227022044A>CCA2663405547COL4A4c.4216+4T>G (n.4216+4T>G)
c.3661+4T>G (n.3661+4T>G)
c.4135+4T>G (n.4135+4T>G)
c.4108+4T>G (n.4108+4T>G)
c.2542+4T>G (n.2542+4T>G)
n.4526+4T>G
c.4099+4T>G (n.4099+4T>G)
n.4542+4T>G
 gnomAD v4
2g.227022044A>GCA66552313COL4A4c.4216+4T>C (n.4216+4T>C)
c.3661+4T>C (n.3661+4T>C)
c.4135+4T>C (n.4135+4T>C)
c.4108+4T>C (n.4108+4T>C)
c.2542+4T>C (n.2542+4T>C)
n.4526+4T>C
c.4099+4T>C (n.4099+4T>C)
n.4542+4T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227022044A>TCA2144248COL4A4c.4216+4T>A (n.4216+4T>A)
c.3661+4T>A (n.3661+4T>A)
c.4135+4T>A (n.4135+4T>A)
c.4108+4T>A (n.4108+4T>A)
c.2542+4T>A (n.2542+4T>A)
n.4526+4T>A
c.4099+4T>A (n.4099+4T>A)
n.4542+4T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022045T>CCA2663405548COL4A4c.4216+3A>G (n.4216+3A>G)
c.3661+3A>G (n.3661+3A>G)
c.4135+3A>G (n.4135+3A>G)
c.4108+3A>G (n.4108+3A>G)
c.2542+3A>G (n.2542+3A>G)
n.4526+3A>G
c.4099+3A>G (n.4099+3A>G)
n.4542+3A>G
 gnomAD v4
2g.227022046A>CCA350836622COL4A4c.4216+2T>G (n.4216+2T>G)
c.3661+2T>G (n.3661+2T>G)
c.4135+2T>G (n.4135+2T>G)
c.4108+2T>G (n.4108+2T>G)
c.2542+2T>G (n.2542+2T>G)
n.4526+2T>G
c.4099+2T>G (n.4099+2T>G)
n.4542+2T>G
2g.227022046A>GCA350836623COL4A4c.4216+2T>C (n.4216+2T>C)
c.3661+2T>C (n.3661+2T>C)
c.4135+2T>C (n.4135+2T>C)
c.4108+2T>C (n.4108+2T>C)
c.2542+2T>C (n.2542+2T>C)
n.4526+2T>C
c.4099+2T>C (n.4099+2T>C)
n.4542+2T>C
2g.227022046A>TCA350836624COL4A4c.4216+2T>A (n.4216+2T>A)
c.3661+2T>A (n.3661+2T>A)
c.4135+2T>A (n.4135+2T>A)
c.4108+2T>A (n.4108+2T>A)
c.2542+2T>A (n.2542+2T>A)
n.4526+2T>A
c.4099+2T>A (n.4099+2T>A)
n.4542+2T>A
2g.227022046_227022047delinsACCA1332730248COL4A4c.4216+1_4216+2delinsGT (n.4216+1_4216+2delinsGT)
c.3661+1_3661+2delinsGT (n.3661+1_3661+2delinsGT)
c.4135+1_4135+2delinsGT (n.4135+1_4135+2delinsGT)
c.4108+1_4108+2delinsGT (n.4108+1_4108+2delinsGT)
c.2542+1_2542+2delinsGT (n.2542+1_2542+2delinsGT)
n.4526+1_4526+2delinsGT
c.4099+1_4099+2delinsGT (n.4099+1_4099+2delinsGT)
n.4542+1_4542+2delinsGT
2g.227022047C>ACA350836625COL4A4c.4216+1G>T (n.4216+1G>T)
c.3661+1G>T (n.3661+1G>T)
c.4135+1G>T (n.4135+1G>T)
c.4108+1G>T (n.4108+1G>T)
c.2542+1G>T (n.2542+1G>T)
n.4526+1G>T
c.4099+1G>T (n.4099+1G>T)
n.4542+1G>T
2g.227022047C>GCA350836626COL4A4c.4216+1G>C (n.4216+1G>C)
c.3661+1G>C (n.3661+1G>C)
c.4135+1G>C (n.4135+1G>C)
c.4108+1G>C (n.4108+1G>C)
c.2542+1G>C (n.2542+1G>C)
n.4526+1G>C
c.4099+1G>C (n.4099+1G>C)
n.4542+1G>C
2g.227022047C>TCA350836627COL4A4c.4216+1G>A (n.4216+1G>A)
c.3661+1G>A (n.3661+1G>A)
c.4135+1G>A (n.4135+1G>A)
c.4108+1G>A (n.4108+1G>A)
c.2542+1G>A (n.2542+1G>A)
n.4526+1G>A
c.4099+1G>A (n.4099+1G>A)
n.4542+1G>A
 gnomAD v4
2g.227022048delCA16617485COL4A4c.4216+1del
c.3661+1del
c.4135+1del
c.4108+1del
c.2542+1del
n.4526+1del
c.4099+1del
n.4542+1del
 ClinVar dbSNP
2g.227022048C>ACA350836629COL4A4c.4216G>T (p.Gly1406Trp)
c.3661G>T (p.Gly1221Trp)
c.4216G>T (p.Gly1406Cys)
c.4135G>T (p.Gly1379Trp)
c.4108G>T (p.Gly1370Trp)
c.4216G>T (p.Ala1406Ser)
c.2542G>T (p.Gly848Trp)
n.4526G>T
c.4099G>T (p.Gly1367Trp)
n.4542G>T
2g.227022048C=CA1332730249COL4A4c.4216G= (p.Gly1406=)
c.3661G= (p.Gly1221=)
c.4135G= (p.Gly1379=)
c.4108G= (p.Gly1370=)
c.4216G= (p.Ala1406=)
c.2542G= (p.Gly848=)
n.4526G=
c.4099G= (p.Gly1367=)
n.4542G=
2g.227022048C>GCA350836630COL4A4c.4216G>C (p.Gly1406Arg)
c.3661G>C (p.Gly1221Arg)
c.4135G>C (p.Gly1379Arg)
c.4108G>C (p.Gly1370Arg)
c.4216G>C (p.Ala1406Pro)
c.2542G>C (p.Gly848Arg)
n.4526G>C
c.4099G>C (p.Gly1367Arg)
n.4542G>C
2g.227022048C>TCA350836628COL4A4c.4216G>A (p.Gly1406Arg)
c.3661G>A (p.Gly1221Arg)
c.4216G>A (p.Gly1406Ser)
c.4135G>A (p.Gly1379Arg)
c.4108G>A (p.Gly1370Arg)
c.4216G>A (p.Ala1406Thr)
c.2542G>A (p.Gly848Arg)
n.4526G>A
c.4099G>A (p.Gly1367Arg)
n.4542G>A
 dbSNP
2g.227022049T>ACA431494648COL4A4c.4215A>T (p.Pro1405=)
c.3660A>T (p.Pro1220=)
c.4134A>T (p.Pro1378=)
c.4107A>T (p.Pro1369=)
c.2541A>T (p.Pro847=)
n.4525A>T
c.4098A>T (p.Pro1366=)
n.4541A>T
2g.227022049T>CCA431494650COL4A4c.4215A>G (p.Pro1405=)
c.3660A>G (p.Pro1220=)
c.4134A>G (p.Pro1378=)
c.4107A>G (p.Pro1369=)
c.2541A>G (p.Pro847=)
n.4525A>G
c.4098A>G (p.Pro1366=)
n.4541A>G
2g.227022049T>GCA431494652COL4A4c.4215A>C (p.Pro1405=)
c.3660A>C (p.Pro1220=)
c.4134A>C (p.Pro1378=)
c.4107A>C (p.Pro1369=)
c.2541A>C (p.Pro847=)
n.4525A>C
c.4098A>C (p.Pro1366=)
n.4541A>C
2g.227022050G>ACA350836631COL4A4c.4214C>T (p.Pro1405Leu)
c.3659C>T (p.Pro1220Leu)
c.4133C>T (p.Pro1378Leu)
c.4106C>T (p.Pro1369Leu)
c.2540C>T (p.Pro847Leu)
n.4524C>T
c.4097C>T (p.Pro1366Leu)
n.4540C>T
2g.227022050G>CCA350836632COL4A4c.4214C>G (p.Pro1405Arg)
c.3659C>G (p.Pro1220Arg)
c.4133C>G (p.Pro1378Arg)
c.4106C>G (p.Pro1369Arg)
c.2540C>G (p.Pro847Arg)
n.4524C>G
c.4097C>G (p.Pro1366Arg)
n.4540C>G
2g.227022050G>TCA350836633COL4A4c.4214C>A (p.Pro1405Gln)
c.3659C>A (p.Pro1220Gln)
c.4133C>A (p.Pro1378Gln)
c.4106C>A (p.Pro1369Gln)
c.2540C>A (p.Pro847Gln)
n.4524C>A
c.4097C>A (p.Pro1366Gln)
n.4540C>A
2g.227022051dupCA2586971389COL4A4c.4214dup (p.Gly1406ArgfsTer27)
c.3659dup (p.Gly1221ArgfsTer27)
c.4214dup (p.Gly1406ArgfsTer26)
c.4214dup (p.Gly1406ArgfsTer4)
c.4133dup (p.Gly1379ArgfsTer27)
c.4106dup (p.Gly1370ArgfsTer27)
c.4214dup (p.Gly1406ArgfsTer23)
c.4214dup (p.Gly1406ArgfsTer3)
c.4214dup (p.Gly1406ArgfsTer?)
c.4214dup (p.Ala1406SerfsTer12)
c.2540dup (p.Gly848ArgfsTer27)
n.4524dup
c.4097dup (p.Gly1367ArgfsTer27)
n.4540dup
2g.227022051G>ACA350836634COL4A4c.4213C>T (p.Pro1405Ser)
c.3658C>T (p.Pro1220Ser)
c.4132C>T (p.Pro1378Ser)
c.4105C>T (p.Pro1369Ser)
c.2539C>T (p.Pro847Ser)
n.4523C>T
c.4096C>T (p.Pro1366Ser)
n.4539C>T
2g.227022051G>CCA350836635COL4A4c.4213C>G (p.Pro1405Ala)
c.3658C>G (p.Pro1220Ala)
c.4132C>G (p.Pro1378Ala)
c.4105C>G (p.Pro1369Ala)
c.2539C>G (p.Pro847Ala)
n.4523C>G
c.4096C>G (p.Pro1366Ala)
n.4539C>G
2g.227022051G>TCA350836636COL4A4c.4213C>A (p.Pro1405Thr)
c.3658C>A (p.Pro1220Thr)
c.4132C>A (p.Pro1378Thr)
c.4105C>A (p.Pro1369Thr)
c.2539C>A (p.Pro847Thr)
n.4523C>A
c.4096C>A (p.Pro1366Thr)
n.4539C>A
2g.227022052T>ACA431494659COL4A4c.4212A>T (p.Gly1404=)
c.3657A>T (p.Gly1219=)
c.4131A>T (p.Gly1377=)
c.4104A>T (p.Gly1368=)
c.2538A>T (p.Gly846=)
n.4522A>T
c.4095A>T (p.Gly1365=)
n.4538A>T
2g.227022052T>CCA431494660COL4A4c.4212A>G (p.Gly1404=)
c.3657A>G (p.Gly1219=)
c.4131A>G (p.Gly1377=)
c.4104A>G (p.Gly1368=)
c.2538A>G (p.Gly846=)
n.4522A>G
c.4095A>G (p.Gly1365=)
n.4538A>G
2g.227022052T>GCA431494662COL4A4c.4212A>C (p.Gly1404=)
c.3657A>C (p.Gly1219=)
c.4131A>C (p.Gly1377=)
c.4104A>C (p.Gly1368=)
c.2538A>C (p.Gly846=)
n.4522A>C
c.4095A>C (p.Gly1365=)
n.4538A>C
2g.227022053C>ACA350836637COL4A4c.4211G>T (p.Gly1404Val)
c.3656G>T (p.Gly1219Val)
c.4130G>T (p.Gly1377Val)
c.4103G>T (p.Gly1368Val)
c.2537G>T (p.Gly846Val)
n.4521G>T
c.4094G>T (p.Gly1365Val)
n.4537G>T
 COSMIC
2g.227022053C>GCA350836638COL4A4c.4211G>C (p.Gly1404Ala)
c.3656G>C (p.Gly1219Ala)
c.4130G>C (p.Gly1377Ala)
c.4103G>C (p.Gly1368Ala)
c.2537G>C (p.Gly846Ala)
n.4521G>C
c.4094G>C (p.Gly1365Ala)
n.4537G>C
2g.227022053C>TCA350836639COL4A4c.4211G>A (p.Gly1404Glu)
c.3656G>A (p.Gly1219Glu)
c.4130G>A (p.Gly1377Glu)
c.4103G>A (p.Gly1368Glu)
c.2537G>A (p.Gly846Glu)
n.4521G>A
c.4094G>A (p.Gly1365Glu)
n.4537G>A
 gnomAD v4
2g.227022054C>ACA350836640COL4A4c.4210G>T (p.Gly1404Ter)
c.3655G>T (p.Gly1219Ter)
c.4129G>T (p.Gly1377Ter)
c.4102G>T (p.Gly1368Ter)
c.2536G>T (p.Gly846Ter)
n.4520G>T
c.4093G>T (p.Gly1365Ter)
n.4536G>T
2g.227022054C>GCA350836641COL4A4c.4210G>C (p.Gly1404Arg)
c.3655G>C (p.Gly1219Arg)
c.4129G>C (p.Gly1377Arg)
c.4102G>C (p.Gly1368Arg)
c.2536G>C (p.Gly846Arg)
n.4520G>C
c.4093G>C (p.Gly1365Arg)
n.4536G>C
2g.227022054C>TCA350836642COL4A4c.4210G>A (p.Gly1404Arg)
c.3655G>A (p.Gly1219Arg)
c.4129G>A (p.Gly1377Arg)
c.4102G>A (p.Gly1368Arg)
c.2536G>A (p.Gly846Arg)
n.4520G>A
c.4093G>A (p.Gly1365Arg)
n.4536G>A
2g.227022055T>ACA431494672COL4A4c.4209A>T (p.Ser1403=)
c.3654A>T (p.Ser1218=)
c.4128A>T (p.Ser1376=)
c.4101A>T (p.Ser1367=)
c.2535A>T (p.Ser845=)
n.4519A>T
c.4092A>T (p.Ser1364=)
n.4535A>T
2g.227022055T>CCA431494674COL4A4c.4209A>G (p.Ser1403=)
c.3654A>G (p.Ser1218=)
c.4128A>G (p.Ser1376=)
c.4101A>G (p.Ser1367=)
c.2535A>G (p.Ser845=)
n.4519A>G
c.4092A>G (p.Ser1364=)
n.4535A>G
2g.227022055T>GCA431494676COL4A4c.4209A>C (p.Ser1403=)
c.3654A>C (p.Ser1218=)
c.4128A>C (p.Ser1376=)
c.4101A>C (p.Ser1367=)
c.2535A>C (p.Ser845=)
n.4519A>C
c.4092A>C (p.Ser1364=)
n.4535A>C
2g.227022055T=CA1332730250COL4A4c.4209A= (p.Ser1403=)
c.3654A= (p.Ser1218=)
c.4128A= (p.Ser1376=)
c.4101A= (p.Ser1367=)
c.2535A= (p.Ser845=)
n.4519A=
c.4092A= (p.Ser1364=)
n.4535A=
2g.227022056G>ACA350836645COL4A4c.4208C>T (p.Ser1403Leu)
c.3653C>T (p.Ser1218Leu)
c.4127C>T (p.Ser1376Leu)
c.4100C>T (p.Ser1367Leu)
c.2534C>T (p.Ser845Leu)
n.4518C>T
c.4091C>T (p.Ser1364Leu)
n.4534C>T
2g.227022056G>CCA350836643COL4A4c.4208C>G (p.Ser1403Ter)
c.3653C>G (p.Ser1218Ter)
c.4127C>G (p.Ser1376Ter)
c.4100C>G (p.Ser1367Ter)
c.2534C>G (p.Ser845Ter)
n.4518C>G
c.4091C>G (p.Ser1364Ter)
n.4534C>G
 ClinVar COSMIC
2g.227022056G>TCA350836644COL4A4c.4208C>A (p.Ser1403Ter)
c.3653C>A (p.Ser1218Ter)
c.4127C>A (p.Ser1376Ter)
c.4100C>A (p.Ser1367Ter)
c.2534C>A (p.Ser845Ter)
n.4518C>A
c.4091C>A (p.Ser1364Ter)
n.4534C>A
2g.227022056dupCA2144249COL4A4c.4208dup (p.Gly1404ArgfsTer29)
c.3653dup (p.Gly1219ArgfsTer29)
c.4208dup (p.Gly1404ArgfsTer28)
c.4208dup (p.Gly1404ArgfsTer6)
c.4127dup (p.Gly1377ArgfsTer29)
c.4100dup (p.Gly1368ArgfsTer29)
c.4208dup (p.Gly1404ArgfsTer25)
c.4208dup (p.Gly1404ArgfsTer5)
c.4208dup (p.Gly1404ArgfsTer?)
c.4208dup (p.Gly1404ArgfsTer14)
c.2534dup (p.Gly846ArgfsTer29)
n.4518dup
c.4091dup (p.Gly1365ArgfsTer29)
n.4534dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227022057delCA2663405549COL4A4c.4207del (p.Ser1403GlnfsTer?)
c.3652del (p.Ser1218GlnfsTer?)
c.4207del (p.Ser1403GlnfsTer12)
c.4207del (p.Ser1403GlnfsTer13)
c.4126del (p.Ser1376GlnfsTer?)
c.4099del (p.Ser1367GlnfsTer?)
c.4207del (p.Ser1403GlnfsTer9)
c.2533del (p.Ser845GlnfsTer?)
n.4517del
c.4090del (p.Ser1364GlnfsTer?)
n.4533del
 gnomAD v4
2g.227022057A=CA1332730251COL4A4c.4207T= (p.Ser1403=)
c.3652T= (p.Ser1218=)
c.4126T= (p.Ser1376=)
c.4099T= (p.Ser1367=)
c.2533T= (p.Ser845=)
n.4517T=
c.4090T= (p.Ser1364=)
n.4533T=
2g.227022057A>CCA350836646COL4A4c.4207T>G (p.Ser1403Ala)
c.3652T>G (p.Ser1218Ala)
c.4126T>G (p.Ser1376Ala)
c.4099T>G (p.Ser1367Ala)
c.2533T>G (p.Ser845Ala)
n.4517T>G
c.4090T>G (p.Ser1364Ala)
n.4533T>G
 dbSNP
2g.227022057A>GCA2144250COL4A4c.4207T>C (p.Ser1403Pro)
c.3652T>C (p.Ser1218Pro)
c.4126T>C (p.Ser1376Pro)
c.4099T>C (p.Ser1367Pro)
c.2533T>C (p.Ser845Pro)
n.4517T>C
c.4090T>C (p.Ser1364Pro)
n.4533T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227022057A>TCA350836647COL4A4c.4207T>A (p.Ser1403Thr)
c.3652T>A (p.Ser1218Thr)
c.4126T>A (p.Ser1376Thr)
c.4099T>A (p.Ser1367Thr)
c.2533T>A (p.Ser845Thr)
n.4517T>A
c.4090T>A (p.Ser1364Thr)
n.4533T>A
2g.227022057_227022058delinsGACA2573135340COL4A4c.4206_4207delinsTC (p.Ser1403Pro)
c.3651_3652delinsTC (p.Ser1218Pro)
c.4125_4126delinsTC (p.Ser1376Pro)
c.4098_4099delinsTC (p.Ser1367Pro)
c.2532_2533delinsTC (p.Ser845Pro)
n.4516_4517delinsTC
c.4089_4090delinsTC (p.Ser1364Pro)
n.4532_4533delinsTC
 ClinVar dbSNP
2g.227022058G>ACA431494689COL4A4c.4206C>T (p.Pro1402=)
c.3651C>T (p.Pro1217=)
c.4125C>T (p.Pro1375=)
c.4098C>T (p.Pro1366=)
c.2532C>T (p.Pro844=)
n.4516C>T
c.4089C>T (p.Pro1363=)
n.4532C>T
 gnomAD v4
2g.227022058G>CCA431494690COL4A4c.4206C>G (p.Pro1402=)
c.3651C>G (p.Pro1217=)
c.4125C>G (p.Pro1375=)
c.4098C>G (p.Pro1366=)
c.2532C>G (p.Pro844=)
n.4516C>G
c.4089C>G (p.Pro1363=)
n.4532C>G
 gnomAD v4
2g.227022058G>TCA431494693COL4A4c.4206C>A (p.Pro1402=)
c.3651C>A (p.Pro1217=)
c.4125C>A (p.Pro1375=)
c.4098C>A (p.Pro1366=)
c.2532C>A (p.Pro844=)
n.4516C>A
c.4089C>A (p.Pro1363=)
n.4532C>A
2g.227022059G>ACA2144251COL4A4c.4205C>T (p.Pro1402Leu)
c.3650C>T (p.Pro1217Leu)
c.4124C>T (p.Pro1375Leu)
c.4097C>T (p.Pro1366Leu)
c.2531C>T (p.Pro844Leu)
n.4515C>T
c.4088C>T (p.Pro1363Leu)
n.4531C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.227022059G>CCA2144252COL4A4c.4205C>G (p.Pro1402Arg)
c.3650C>G (p.Pro1217Arg)
c.4124C>G (p.Pro1375Arg)
c.4097C>G (p.Pro1366Arg)
c.2531C>G (p.Pro844Arg)
n.4515C>G
c.4088C>G (p.Pro1363Arg)
n.4531C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022059G=CA1332730252COL4A4c.4205C= (p.Pro1402=)
c.3650C= (p.Pro1217=)
c.4124C= (p.Pro1375=)
c.4097C= (p.Pro1366=)
c.2531C= (p.Pro844=)
n.4515C=
c.4088C= (p.Pro1363=)
n.4531C=
2g.227022059G>TCA350836648COL4A4c.4205C>A (p.Pro1402His)
c.3650C>A (p.Pro1217His)
c.4124C>A (p.Pro1375His)
c.4097C>A (p.Pro1366His)
c.2531C>A (p.Pro844His)
n.4515C>A
c.4088C>A (p.Pro1363His)
n.4531C>A
 dbSNP
2g.227022060G>ACA350836649COL4A4c.4204C>T (p.Pro1402Ser)
c.3649C>T (p.Pro1217Ser)
c.4123C>T (p.Pro1375Ser)
c.4096C>T (p.Pro1366Ser)
c.2530C>T (p.Pro844Ser)
n.4514C>T
c.4087C>T (p.Pro1363Ser)
n.4530C>T
2g.227022060G>CCA350836650COL4A4c.4204C>G (p.Pro1402Ala)
c.3649C>G (p.Pro1217Ala)
c.4123C>G (p.Pro1375Ala)
c.4096C>G (p.Pro1366Ala)
c.2530C>G (p.Pro844Ala)
n.4514C>G
c.4087C>G (p.Pro1363Ala)
n.4530C>G
2g.227022060G>TCA350836651COL4A4c.4204C>A (p.Pro1402Thr)
c.3649C>A (p.Pro1217Thr)
c.4123C>A (p.Pro1375Thr)
c.4096C>A (p.Pro1366Thr)
c.2530C>A (p.Pro844Thr)
n.4514C>A
c.4087C>A (p.Pro1363Thr)
n.4530C>A
2g.227022061G>ACA431494703COL4A4c.4203C>T (p.Gly1401=)
c.3648C>T (p.Gly1216=)
c.4122C>T (p.Gly1374=)
c.4095C>T (p.Gly1365=)
c.2529C>T (p.Gly843=)
n.4513C>T
c.4086C>T (p.Gly1362=)
n.4529C>T
 dbSNP gnomAD v4 COSMIC
2g.227022061G>CCA431494705COL4A4c.4203C>G (p.Gly1401=)
c.3648C>G (p.Gly1216=)
c.4122C>G (p.Gly1374=)
c.4095C>G (p.Gly1365=)
c.2529C>G (p.Gly843=)
n.4513C>G
c.4086C>G (p.Gly1362=)
n.4529C>G
2g.227022061G=CA1332730253COL4A4c.4203C= (p.Gly1401=)
c.3648C= (p.Gly1216=)
c.4122C= (p.Gly1374=)
c.4095C= (p.Gly1365=)
c.2529C= (p.Gly843=)
n.4513C=
c.4086C= (p.Gly1362=)
n.4529C=
2g.227022061G>TCA431494707COL4A4c.4203C>A (p.Gly1401=)
c.3648C>A (p.Gly1216=)
c.4122C>A (p.Gly1374=)
c.4095C>A (p.Gly1365=)
c.2529C>A (p.Gly843=)
n.4513C>A
c.4086C>A (p.Gly1362=)
n.4529C>A
 dbSNP gnomAD v3 gnomAD v4
2g.227022062C>ACA350836652COL4A4c.4202G>T (p.Gly1401Val)
c.3647G>T (p.Gly1216Val)
c.4121G>T (p.Gly1374Val)
c.4094G>T (p.Gly1365Val)
c.2528G>T (p.Gly843Val)
n.4512G>T
c.4085G>T (p.Gly1362Val)
n.4528G>T
2g.227022062C>GCA350836653COL4A4c.4202G>C (p.Gly1401Ala)
c.3647G>C (p.Gly1216Ala)
c.4121G>C (p.Gly1374Ala)
c.4094G>C (p.Gly1365Ala)
c.2528G>C (p.Gly843Ala)
n.4512G>C
c.4085G>C (p.Gly1362Ala)
n.4528G>C
2g.227022062C>TCA350836654COL4A4c.4202G>A (p.Gly1401Asp)
c.3647G>A (p.Gly1216Asp)
c.4121G>A (p.Gly1374Asp)
c.4094G>A (p.Gly1365Asp)
c.2528G>A (p.Gly843Asp)
n.4512G>A
c.4085G>A (p.Gly1362Asp)
n.4528G>A
 gnomAD v4
2g.227022063C>ACA350836657COL4A4c.4201G>T (p.Gly1401Cys)
c.3646G>T (p.Gly1216Cys)
c.4120G>T (p.Gly1374Cys)
c.4093G>T (p.Gly1365Cys)
c.2527G>T (p.Gly843Cys)
n.4511G>T
c.4084G>T (p.Gly1362Cys)
n.4527G>T
2g.227022063C>GCA350836656COL4A4c.4201G>C (p.Gly1401Arg)
c.3646G>C (p.Gly1216Arg)
c.4120G>C (p.Gly1374Arg)
c.4093G>C (p.Gly1365Arg)
c.2527G>C (p.Gly843Arg)
n.4511G>C
c.4084G>C (p.Gly1362Arg)
n.4527G>C
2g.227022063C>TCA350836655COL4A4c.4201G>A (p.Gly1401Ser)
c.3646G>A (p.Gly1216Ser)
c.4120G>A (p.Gly1374Ser)
c.4093G>A (p.Gly1365Ser)
c.2527G>A (p.Gly843Ser)
n.4511G>A
c.4084G>A (p.Gly1362Ser)
n.4527G>A
2g.227022066_227022067delCA2586971390COL4A4c.4200_4201del (p.Gly1401ProfsTer?)
c.3645_3646del (p.Gly1216ProfsTer?)
c.4200_4201del (p.Gly1401ProfsTer8)
c.4119_4120del (p.Gly1374ProfsTer?)
c.4092_4093del (p.Gly1365ProfsTer?)
c.4200_4201del (p.Gly1401ProfsTer27)
c.4200_4201del (p.Gly1401ProfsTer7)
c.4200_4201del (p.Gly1401ProfsTer16)
c.2526_2527del (p.Gly843ProfsTer?)
n.4510_4511del
c.4083_4084del (p.Gly1362ProfsTer?)
n.4526_4527del
 gnomAD v4
2g.227022064T>ACA350836658COL4A4c.4200A>T (p.Arg1400Ser)
c.3645A>T (p.Arg1215Ser)
c.4119A>T (p.Arg1373Ser)
c.4092A>T (p.Arg1364Ser)
c.2526A>T (p.Arg842Ser)
n.4510A>T
c.4083A>T (p.Arg1361Ser)
n.4526A>T
2g.227022064T>CCA431494719COL4A4c.4200A>G (p.Arg1400=)
c.3645A>G (p.Arg1215=)
c.4119A>G (p.Arg1373=)
c.4092A>G (p.Arg1364=)
c.2526A>G (p.Arg842=)
n.4510A>G
c.4083A>G (p.Arg1361=)
n.4526A>G
2g.227022064T>GCA350836659COL4A4c.4200A>C (p.Arg1400Ser)
c.3645A>C (p.Arg1215Ser)
c.4119A>C (p.Arg1373Ser)
c.4092A>C (p.Arg1364Ser)
c.2526A>C (p.Arg842Ser)
n.4510A>C
c.4083A>C (p.Arg1361Ser)
n.4526A>C
2g.227022064dupCA2499215711COL4A4c.4200dup (p.Gly1401ArgfsTer?)
c.3645dup (p.Gly1216ArgfsTer?)
c.4200dup (p.Gly1401ArgfsTer9)
c.4119dup (p.Gly1374ArgfsTer?)
c.4092dup (p.Gly1365ArgfsTer?)
c.4200dup (p.Gly1401ArgfsTer28)
c.4200dup (p.Gly1401ArgfsTer8)
c.4200dup (p.Gly1401ArgfsTer17)
c.2526dup (p.Gly843ArgfsTer?)
n.4510dup
c.4083dup (p.Gly1362ArgfsTer?)
n.4526dup
 ClinVar dbSNP
2g.227022065C>ACA350836660COL4A4c.4199G>T (p.Arg1400Ile)
c.3644G>T (p.Arg1215Ile)
c.4118G>T (p.Arg1373Ile)
c.4091G>T (p.Arg1364Ile)
c.2525G>T (p.Arg842Ile)
n.4509G>T
c.4082G>T (p.Arg1361Ile)
n.4525G>T
2g.227022065C=CA1332730254COL4A4c.4199G= (p.Arg1400=)
c.3644G= (p.Arg1215=)
c.4118G= (p.Arg1373=)
c.4091G= (p.Arg1364=)
c.2525G= (p.Arg842=)
n.4509G=
c.4082G= (p.Arg1361=)
n.4525G=
2g.227022065C>GCA350836661COL4A4c.4199G>C (p.Arg1400Thr)
c.3644G>C (p.Arg1215Thr)
c.4118G>C (p.Arg1373Thr)
c.4091G>C (p.Arg1364Thr)
c.2525G>C (p.Arg842Thr)
n.4509G>C
c.4082G>C (p.Arg1361Thr)
n.4525G>C
2g.227022065C>TCA2144253COL4A4c.4199G>A (p.Arg1400Lys)
c.3644G>A (p.Arg1215Lys)
c.4118G>A (p.Arg1373Lys)
c.4091G>A (p.Arg1364Lys)
c.2525G>A (p.Arg842Lys)
n.4509G>A
c.4082G>A (p.Arg1361Lys)
n.4525G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022066T>ACA350836662COL4A4c.4198A>T (p.Arg1400Ter)
c.3643A>T (p.Arg1215Ter)
c.4117A>T (p.Arg1373Ter)
c.4090A>T (p.Arg1364Ter)
c.2524A>T (p.Arg842Ter)
n.4508A>T
c.4081A>T (p.Arg1361Ter)
n.4524A>T
2g.227022066T>CCA2144254COL4A4c.4198A>G (p.Arg1400Gly)
c.3643A>G (p.Arg1215Gly)
c.4117A>G (p.Arg1373Gly)
c.4090A>G (p.Arg1364Gly)
c.2524A>G (p.Arg842Gly)
n.4508A>G
c.4081A>G (p.Arg1361Gly)
n.4524A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227022066T>GCA431494728COL4A4c.4198A>C (p.Arg1400=)
c.3643A>C (p.Arg1215=)
c.4117A>C (p.Arg1373=)
c.4090A>C (p.Arg1364=)
c.2524A>C (p.Arg842=)
n.4508A>C
c.4081A>C (p.Arg1361=)
n.4524A>C
2g.227022066T=CA1332730255COL4A4c.4198A= (p.Arg1400=)
c.3643A= (p.Arg1215=)
c.4117A= (p.Arg1373=)
c.4090A= (p.Arg1364=)
c.2524A= (p.Arg842=)
n.4508A=
c.4081A= (p.Arg1361=)
n.4524A=
2g.227022067C>ACA350836663COL4A4c.4197G>T (p.Met1399Ile)
c.3642G>T (p.Met1214Ile)
c.4116G>T (p.Met1372Ile)
c.4089G>T (p.Met1363Ile)
c.2523G>T (p.Met841Ile)
n.4507G>T
c.4080G>T (p.Met1360Ile)
n.4523G>T
2g.227022067C>GCA350836664COL4A4c.4197G>C (p.Met1399Ile)
c.3642G>C (p.Met1214Ile)
c.4116G>C (p.Met1372Ile)
c.4089G>C (p.Met1363Ile)
c.2523G>C (p.Met841Ile)
n.4507G>C
c.4080G>C (p.Met1360Ile)
n.4523G>C
2g.227022067C>TCA350836665COL4A4c.4197G>A (p.Met1399Ile)
c.3642G>A (p.Met1214Ile)
c.4116G>A (p.Met1372Ile)
c.4089G>A (p.Met1363Ile)
c.2523G>A (p.Met841Ile)
n.4507G>A
c.4080G>A (p.Met1360Ile)
n.4523G>A
 gnomAD v4
2g.227022068A>CCA350836666COL4A4c.4196T>G (p.Met1399Arg)
c.3641T>G (p.Met1214Arg)
c.4115T>G (p.Met1372Arg)
c.4088T>G (p.Met1363Arg)
c.2522T>G (p.Met841Arg)
n.4506T>G
c.4079T>G (p.Met1360Arg)
n.4522T>G
 gnomAD v4
2g.227022068A>GCA350836667COL4A4c.4196T>C (p.Met1399Thr)
c.3641T>C (p.Met1214Thr)
c.4115T>C (p.Met1372Thr)
c.4088T>C (p.Met1363Thr)
c.2522T>C (p.Met841Thr)
n.4506T>C
c.4079T>C (p.Met1360Thr)
n.4522T>C
2g.227022068A>TCA350836668COL4A4c.4196T>A (p.Met1399Lys)
c.3641T>A (p.Met1214Lys)
c.4115T>A (p.Met1372Lys)
c.4088T>A (p.Met1363Lys)
c.2522T>A (p.Met841Lys)
n.4506T>A
c.4079T>A (p.Met1360Lys)
n.4522T>A
2g.227022069T>ACA2144255COL4A4c.4195A>T (p.Met1399Leu)
c.3640A>T (p.Met1214Leu)
c.4114A>T (p.Met1372Leu)
c.4087A>T (p.Met1363Leu)
c.2521A>T (p.Met841Leu)
n.4505A>T
c.4078A>T (p.Met1360Leu)
n.4521A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227022069T>CCA350836669COL4A4c.4195A>G (p.Met1399Val)
c.3640A>G (p.Met1214Val)
c.4114A>G (p.Met1372Val)
c.4087A>G (p.Met1363Val)
c.2521A>G (p.Met841Val)
n.4505A>G
c.4078A>G (p.Met1360Val)
n.4521A>G
 gnomAD v4
2g.227022069T>GCA350836670COL4A4c.4195A>C (p.Met1399Leu)
c.3640A>C (p.Met1214Leu)
c.4114A>C (p.Met1372Leu)
c.4087A>C (p.Met1363Leu)
c.2521A>C (p.Met841Leu)
n.4505A>C
c.4078A>C (p.Met1360Leu)
n.4521A>C
2g.227022069T=CA1332730256COL4A4c.4195A= (p.Met1399=)
c.3640A= (p.Met1214=)
c.4114A= (p.Met1372=)
c.4087A= (p.Met1363=)
c.2521A= (p.Met841=)
n.4505A=
c.4078A= (p.Met1360=)
n.4521A=
2g.227022070T>ACA431494746COL4A4c.4194A>T (p.Gly1398=)
c.3639A>T (p.Gly1213=)
c.4113A>T (p.Gly1371=)
c.4086A>T (p.Gly1362=)
c.2520A>T (p.Gly840=)
n.4504A>T
c.4077A>T (p.Gly1359=)
n.4520A>T
2g.227022070T>CCA431494749COL4A4c.4194A>G (p.Gly1398=)
c.3639A>G (p.Gly1213=)
c.4113A>G (p.Gly1371=)
c.4086A>G (p.Gly1362=)
c.2520A>G (p.Gly840=)
n.4504A>G
c.4077A>G (p.Gly1359=)
n.4520A>G
2g.227022070T>GCA2144256COL4A4c.4194A>C (p.Gly1398=)
c.3639A>C (p.Gly1213=)
c.4113A>C (p.Gly1371=)
c.4086A>C (p.Gly1362=)
c.2520A>C (p.Gly840=)
n.4504A>C
c.4077A>C (p.Gly1359=)
n.4520A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022070T=CA1332730257COL4A4c.4194A= (p.Gly1398=)
c.3639A= (p.Gly1213=)
c.4113A= (p.Gly1371=)
c.4086A= (p.Gly1362=)
c.2520A= (p.Gly840=)
n.4504A=
c.4077A= (p.Gly1359=)
n.4520A=
2g.227022070_227022080delinsTCCAGGGAGCCCA1332730258COL4A4c.4184_4194delinsGGCTCCCTGGA (p.Gly1395=)
c.3629_3639delinsGGCTCCCTGGA (p.Gly1210=)
c.4103_4113delinsGGCTCCCTGGA (p.Gly1368=)
c.4076_4086delinsGGCTCCCTGGA (p.Gly1359=)
c.2510_2520delinsGGCTCCCTGGA (p.Gly837=)
n.4494_4504delinsGGCTCCCTGGA
c.4067_4077delinsGGCTCCCTGGA (p.Gly1356=)
n.4510_4520delinsGGCTCCCTGGA
2g.227022071C>ACA66552358COL4A4c.4193G>T (p.Gly1398Val)
c.3638G>T (p.Gly1213Val)
c.4112G>T (p.Gly1371Val)
c.4085G>T (p.Gly1362Val)
c.2519G>T (p.Gly840Val)
n.4503G>T
c.4076G>T (p.Gly1359Val)
n.4519G>T
 dbSNP gnomAD v3 gnomAD v4
2g.227022071C=CA1332730259COL4A4c.4193G= (p.Gly1398=)
c.3638G= (p.Gly1213=)
c.4112G= (p.Gly1371=)
c.4085G= (p.Gly1362=)
c.2519G= (p.Gly840=)
n.4503G=
c.4076G= (p.Gly1359=)
n.4519G=
2g.227022071C>GCA2144257COL4A4c.4193G>C (p.Gly1398Ala)
c.3638G>C (p.Gly1213Ala)
c.4112G>C (p.Gly1371Ala)
c.4085G>C (p.Gly1362Ala)
c.2519G>C (p.Gly840Ala)
n.4503G>C
c.4076G>C (p.Gly1359Ala)
n.4519G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022071C>TCA350836671COL4A4c.4193G>A (p.Gly1398Glu)
c.3638G>A (p.Gly1213Glu)
c.4112G>A (p.Gly1371Glu)
c.4085G>A (p.Gly1362Glu)
c.2519G>A (p.Gly840Glu)
n.4503G>A
c.4076G>A (p.Gly1359Glu)
n.4519G>A
2g.227022074_227022083delCA1332730260COL4A4c.4184_4193del (p.Gly1395GlufsTer2)
c.3629_3638del (p.Gly1210GlufsTer2)
c.4103_4112del (p.Gly1368GlufsTer2)
c.4076_4085del (p.Gly1359GlufsTer2)
c.2510_2519del (p.Gly837GlufsTer2)
n.4494_4503del
c.4067_4076del (p.Gly1356GlufsTer2)
n.4510_4519del
 dbSNP
2g.227022072C>ACA350836672COL4A4c.4192G>T (p.Gly1398Ter)
c.3637G>T (p.Gly1213Ter)
c.4111G>T (p.Gly1371Ter)
c.4084G>T (p.Gly1362Ter)
c.2518G>T (p.Gly840Ter)
n.4502G>T
c.4075G>T (p.Gly1359Ter)
n.4518G>T
2g.227022072C>GCA350836673COL4A4c.4192G>C (p.Gly1398Arg)
c.3637G>C (p.Gly1213Arg)
c.4111G>C (p.Gly1371Arg)
c.4084G>C (p.Gly1362Arg)
c.2518G>C (p.Gly840Arg)
n.4502G>C
c.4075G>C (p.Gly1359Arg)
n.4518G>C
2g.227022072C>TCA350836674COL4A4c.4192G>A (p.Gly1398Arg)
c.3637G>A (p.Gly1213Arg)
c.4111G>A (p.Gly1371Arg)
c.4084G>A (p.Gly1362Arg)
c.2518G>A (p.Gly840Arg)
n.4502G>A
c.4075G>A (p.Gly1359Arg)
n.4518G>A
2g.227022073A=CA1332730261COL4A4c.4191T= (p.Pro1397=)
c.3636T= (p.Pro1212=)
c.4110T= (p.Pro1370=)
c.4083T= (p.Pro1361=)
c.2517T= (p.Pro839=)
n.4501T=
c.4074T= (p.Pro1358=)
n.4517T=
2g.227022073A>CCA431494760COL4A4c.4191T>G (p.Pro1397=)
c.3636T>G (p.Pro1212=)
c.4110T>G (p.Pro1370=)
c.4083T>G (p.Pro1361=)
c.2517T>G (p.Pro839=)
n.4501T>G
c.4074T>G (p.Pro1358=)
n.4517T>G
2g.227022073A>GCA2144258COL4A4c.4191T>C (p.Pro1397=)
c.3636T>C (p.Pro1212=)
c.4110T>C (p.Pro1370=)
c.4083T>C (p.Pro1361=)
c.2517T>C (p.Pro839=)
n.4501T>C
c.4074T>C (p.Pro1358=)
n.4517T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227022073A>TCA431494764COL4A4c.4191T>A (p.Pro1397=)
c.3636T>A (p.Pro1212=)
c.4110T>A (p.Pro1370=)
c.4083T>A (p.Pro1361=)
c.2517T>A (p.Pro839=)
n.4501T>A
c.4074T>A (p.Pro1358=)
n.4517T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227022074G>ACA350836675COL4A4c.4190C>T (p.Pro1397Leu)
c.3635C>T (p.Pro1212Leu)
c.4109C>T (p.Pro1370Leu)
c.4082C>T (p.Pro1361Leu)
c.2516C>T (p.Pro839Leu)
n.4500C>T
c.4073C>T (p.Pro1358Leu)
n.4516C>T
2g.227022074G>CCA350836676COL4A4c.4190C>G (p.Pro1397Arg)
c.3635C>G (p.Pro1212Arg)
c.4109C>G (p.Pro1370Arg)
c.4082C>G (p.Pro1361Arg)
c.2516C>G (p.Pro839Arg)
n.4500C>G
c.4073C>G (p.Pro1358Arg)
n.4516C>G
2g.227022074G>TCA350836677COL4A4c.4190C>A (p.Pro1397His)
c.3635C>A (p.Pro1212His)
c.4109C>A (p.Pro1370His)
c.4082C>A (p.Pro1361His)
c.2516C>A (p.Pro839His)
n.4500C>A
c.4073C>A (p.Pro1358His)
n.4516C>A
2g.227022075G>ACA350836678COL4A4c.4189C>T (p.Pro1397Ser)
c.3634C>T (p.Pro1212Ser)
c.4108C>T (p.Pro1370Ser)
c.4081C>T (p.Pro1361Ser)
c.2515C>T (p.Pro839Ser)
n.4499C>T
c.4072C>T (p.Pro1358Ser)
n.4515C>T
 dbSNP gnomAD v4
2g.227022075G>CCA350836679COL4A4c.4189C>G (p.Pro1397Ala)
c.3634C>G (p.Pro1212Ala)
c.4108C>G (p.Pro1370Ala)
c.4081C>G (p.Pro1361Ala)
c.2515C>G (p.Pro839Ala)
n.4499C>G
c.4072C>G (p.Pro1358Ala)
n.4515C>G
2g.227022075G=CA1332730262COL4A4c.4189C= (p.Pro1397=)
c.3634C= (p.Pro1212=)
c.4108C= (p.Pro1370=)
c.4081C= (p.Pro1361=)
c.2515C= (p.Pro839=)
n.4499C=
c.4072C= (p.Pro1358=)
n.4515C=
2g.227022075G>TCA350836680COL4A4c.4189C>A (p.Pro1397Thr)
c.3634C>A (p.Pro1212Thr)
c.4108C>A (p.Pro1370Thr)
c.4081C>A (p.Pro1361Thr)
c.2515C>A (p.Pro839Thr)
n.4499C>A
c.4072C>A (p.Pro1358Thr)
n.4515C>A
2g.227022076G>ACA66552375COL4A4c.4188C>T (p.Leu1396=)
c.3633C>T (p.Leu1211=)
c.4107C>T (p.Leu1369=)
c.4080C>T (p.Leu1360=)
c.2514C>T (p.Leu838=)
n.4498C>T
c.4071C>T (p.Leu1357=)
n.4514C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227022076G>CCA431494774COL4A4c.4188C>G (p.Leu1396=)
c.3633C>G (p.Leu1211=)
c.4107C>G (p.Leu1369=)
c.4080C>G (p.Leu1360=)
c.2514C>G (p.Leu838=)
n.4498C>G
c.4071C>G (p.Leu1357=)
n.4514C>G
2g.227022076G=CA1332730263COL4A4c.4188C= (p.Leu1396=)
c.3633C= (p.Leu1211=)
c.4107C= (p.Leu1369=)
c.4080C= (p.Leu1360=)
c.2514C= (p.Leu838=)
n.4498C=
c.4071C= (p.Leu1357=)
n.4514C=
2g.227022076G>TCA431494780COL4A4c.4188C>A (p.Leu1396=)
c.3633C>A (p.Leu1211=)
c.4107C>A (p.Leu1369=)
c.4080C>A (p.Leu1360=)
c.2514C>A (p.Leu838=)
n.4498C>A
c.4071C>A (p.Leu1357=)
n.4514C>A
2g.227022077delCA2573135341COL4A4c.4187del (p.Leu1396ProfsTer4)
c.3632del (p.Leu1211ProfsTer4)
c.4106del (p.Leu1369ProfsTer4)
c.4079del (p.Leu1360ProfsTer4)
c.2513del (p.Leu838ProfsTer4)
n.4497del
c.4070del (p.Leu1357ProfsTer4)
n.4513del
 ClinVar dbSNP
2g.227022077A>CCA350836683COL4A4c.4187T>G (p.Leu1396Arg)
c.3632T>G (p.Leu1211Arg)
c.4106T>G (p.Leu1369Arg)
c.4079T>G (p.Leu1360Arg)
c.2513T>G (p.Leu838Arg)
n.4497T>G
c.4070T>G (p.Leu1357Arg)
n.4513T>G
2g.227022077A>GCA350836681COL4A4c.4187T>C (p.Leu1396Pro)
c.3632T>C (p.Leu1211Pro)
c.4106T>C (p.Leu1369Pro)
c.4079T>C (p.Leu1360Pro)
c.2513T>C (p.Leu838Pro)
n.4497T>C
c.4070T>C (p.Leu1357Pro)
n.4513T>C
2g.227022077A>TCA350836682COL4A4c.4187T>A (p.Leu1396His)
c.3632T>A (p.Leu1211His)
c.4106T>A (p.Leu1369His)
c.4079T>A (p.Leu1360His)
c.2513T>A (p.Leu838His)
n.4497T>A
c.4070T>A (p.Leu1357His)
n.4513T>A
2g.227022078G>ACA350836684COL4A4c.4186C>T (p.Leu1396Phe)
c.3631C>T (p.Leu1211Phe)
c.4105C>T (p.Leu1369Phe)
c.4078C>T (p.Leu1360Phe)
c.2512C>T (p.Leu838Phe)
n.4496C>T
c.4069C>T (p.Leu1357Phe)
n.4512C>T
2g.227022078G>CCA350836685COL4A4c.4186C>G (p.Leu1396Val)
c.3631C>G (p.Leu1211Val)
c.4105C>G (p.Leu1369Val)
c.4078C>G (p.Leu1360Val)
c.2512C>G (p.Leu838Val)
n.4496C>G
c.4069C>G (p.Leu1357Val)
n.4512C>G
2g.227022078G=CA1332730264COL4A4c.4186C= (p.Leu1396=)
c.3631C= (p.Leu1211=)
c.4105C= (p.Leu1369=)
c.4078C= (p.Leu1360=)
c.2512C= (p.Leu838=)
n.4496C=
c.4069C= (p.Leu1357=)
n.4512C=
2g.227022078G>TCA2144259COL4A4c.4186C>A (p.Leu1396Ile)
c.3631C>A (p.Leu1211Ile)
c.4105C>A (p.Leu1369Ile)
c.4078C>A (p.Leu1360Ile)
c.2512C>A (p.Leu838Ile)
n.4496C>A
c.4069C>A (p.Leu1357Ile)
n.4512C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022079C>ACA2144261COL4A4c.4185G>T (p.Gly1395=)
c.3630G>T (p.Gly1210=)
c.4104G>T (p.Gly1368=)
c.4077G>T (p.Gly1359=)
c.2511G>T (p.Gly837=)
n.4495G>T
c.4068G>T (p.Gly1356=)
n.4511G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022079C=CA1332730265COL4A4c.4185G= (p.Gly1395=)
c.3630G= (p.Gly1210=)
c.4104G= (p.Gly1368=)
c.4077G= (p.Gly1359=)
c.2511G= (p.Gly837=)
n.4495G=
c.4068G= (p.Gly1356=)
n.4511G=
2g.227022079C>GCA431494792COL4A4c.4185G>C (p.Gly1395=)
c.3630G>C (p.Gly1210=)
c.4104G>C (p.Gly1368=)
c.4077G>C (p.Gly1359=)
c.2511G>C (p.Gly837=)
n.4495G>C
c.4068G>C (p.Gly1356=)
n.4511G>C
2g.227022079C>TCA2144260COL4A4c.4185G>A (p.Gly1395=)
c.3630G>A (p.Gly1210=)
c.4104G>A (p.Gly1368=)
c.4077G>A (p.Gly1359=)
c.2511G>A (p.Gly837=)
n.4495G>A
c.4068G>A (p.Gly1356=)
n.4511G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227022080C>ACA350836686COL4A4c.4184G>T (p.Gly1395Val)
c.3629G>T (p.Gly1210Val)
c.4103G>T (p.Gly1368Val)
c.4076G>T (p.Gly1359Val)
c.2510G>T (p.Gly837Val)
n.4494G>T
c.4067G>T (p.Gly1356Val)
n.4510G>T
2g.227022080C>GCA350836687COL4A4c.4184G>C (p.Gly1395Ala)
c.3629G>C (p.Gly1210Ala)
c.4103G>C (p.Gly1368Ala)
c.4076G>C (p.Gly1359Ala)
c.2510G>C (p.Gly837Ala)
n.4494G>C
c.4067G>C (p.Gly1356Ala)
n.4510G>C
2g.227022080C>TCA350836688COL4A4c.4184G>A (p.Gly1395Glu)
c.3629G>A (p.Gly1210Glu)
c.4103G>A (p.Gly1368Glu)
c.4076G>A (p.Gly1359Glu)
c.2510G>A (p.Gly837Glu)
n.4494G>A
c.4067G>A (p.Gly1356Glu)
n.4510G>A
2g.227022081C>ACA350836689COL4A4c.4183G>T (p.Gly1395Trp)
c.3628G>T (p.Gly1210Trp)
c.4102G>T (p.Gly1368Trp)
c.4075G>T (p.Gly1359Trp)
c.2509G>T (p.Gly837Trp)
n.4493G>T
c.4066G>T (p.Gly1356Trp)
n.4509G>T
2g.227022081C>GCA350836690COL4A4c.4183G>C (p.Gly1395Arg)
c.3628G>C (p.Gly1210Arg)
c.4102G>C (p.Gly1368Arg)
c.4075G>C (p.Gly1359Arg)
c.2509G>C (p.Gly837Arg)
n.4493G>C
c.4066G>C (p.Gly1356Arg)
n.4509G>C
2g.227022081C>TCA350836691COL4A4c.4183G>A (p.Gly1395Arg)
c.3628G>A (p.Gly1210Arg)
c.4102G>A (p.Gly1368Arg)
c.4075G>A (p.Gly1359Arg)
c.2509G>A (p.Gly837Arg)
n.4493G>A
c.4066G>A (p.Gly1356Arg)
n.4509G>A
2g.227022082C>ACA350836694COL4A4c.4182G>T (p.Met1394Ile)
c.3627G>T (p.Met1209Ile)
c.4101G>T (p.Met1367Ile)
c.4074G>T (p.Met1358Ile)
c.2508G>T (p.Met836Ile)
n.4492G>T
c.4065G>T (p.Met1355Ile)
n.4508G>T
2g.227022082C>GCA350836692COL4A4c.4182G>C (p.Met1394Ile)
c.3627G>C (p.Met1209Ile)
c.4101G>C (p.Met1367Ile)
c.4074G>C (p.Met1358Ile)
c.2508G>C (p.Met836Ile)
n.4492G>C
c.4065G>C (p.Met1355Ile)
n.4508G>C
2g.227022082C>TCA350836693COL4A4c.4182G>A (p.Met1394Ile)
c.3627G>A (p.Met1209Ile)
c.4101G>A (p.Met1367Ile)
c.4074G>A (p.Met1358Ile)
c.2508G>A (p.Met836Ile)
n.4492G>A
c.4065G>A (p.Met1355Ile)
n.4508G>A
 gnomAD v4 COSMIC
2g.227022083A>CCA350836695COL4A4c.4181T>G (p.Met1394Arg)
c.3626T>G (p.Met1209Arg)
c.4100T>G (p.Met1367Arg)
c.4073T>G (p.Met1358Arg)
c.2507T>G (p.Met836Arg)
n.4491T>G
c.4064T>G (p.Met1355Arg)
n.4507T>G
2g.227022083A>GCA350836696COL4A4c.4181T>C (p.Met1394Thr)
c.3626T>C (p.Met1209Thr)
c.4100T>C (p.Met1367Thr)
c.4073T>C (p.Met1358Thr)
c.2507T>C (p.Met836Thr)
n.4491T>C
c.4064T>C (p.Met1355Thr)
n.4507T>C
 dbSNP
2g.227022083A>TCA350836697COL4A4c.4181T>A (p.Met1394Lys)
c.3626T>A (p.Met1209Lys)
c.4100T>A (p.Met1367Lys)
c.4073T>A (p.Met1358Lys)
c.2507T>A (p.Met836Lys)
n.4491T>A
c.4064T>A (p.Met1355Lys)
n.4507T>A
 gnomAD v4
2g.227022084T>ACA350836698COL4A4c.4180A>T (p.Met1394Leu)
c.3625A>T (p.Met1209Leu)
c.4099A>T (p.Met1367Leu)
c.4072A>T (p.Met1358Leu)
c.2506A>T (p.Met836Leu)
n.4490A>T
c.4063A>T (p.Met1355Leu)
n.4506A>T
2g.227022084T>CCA350836699COL4A4c.4180A>G (p.Met1394Val)
c.3625A>G (p.Met1209Val)
c.4099A>G (p.Met1367Val)
c.4072A>G (p.Met1358Val)
c.2506A>G (p.Met836Val)
n.4490A>G
c.4063A>G (p.Met1355Val)
n.4506A>G
2g.227022084T>GCA350836700COL4A4c.4180A>C (p.Met1394Leu)
c.3625A>C (p.Met1209Leu)
c.4099A>C (p.Met1367Leu)
c.4072A>C (p.Met1358Leu)
c.2506A>C (p.Met836Leu)
n.4490A>C
c.4063A>C (p.Met1355Leu)
n.4506A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227022084T=CA1332730266COL4A4c.4180A= (p.Met1394=)
c.3625A= (p.Met1209=)
c.4099A= (p.Met1367=)
c.4072A= (p.Met1358=)
c.2506A= (p.Met836=)
n.4490A=
c.4063A= (p.Met1355=)
n.4506A=
2g.227022085G>ACA431494816COL4A4c.4179C>T (p.Ala1393=)
c.3624C>T (p.Ala1208=)
c.4098C>T (p.Ala1366=)
c.4071C>T (p.Ala1357=)
c.2505C>T (p.Ala835=)
n.4489C>T
c.4062C>T (p.Ala1354=)
n.4505C>T
 ClinVar dbSNP
2g.227022085G>CCA431494821COL4A4c.4179C>G (p.Ala1393=)
c.3624C>G (p.Ala1208=)
c.4098C>G (p.Ala1366=)
c.4071C>G (p.Ala1357=)
c.2505C>G (p.Ala835=)
n.4489C>G
c.4062C>G (p.Ala1354=)
n.4505C>G
2g.227022085G=CA1332730267COL4A4c.4179C= (p.Ala1393=)
c.3624C= (p.Ala1208=)
c.4098C= (p.Ala1366=)
c.4071C= (p.Ala1357=)
c.2505C= (p.Ala835=)
n.4489C=
c.4062C= (p.Ala1354=)
n.4505C=
2g.227022085G>TCA431494818COL4A4c.4179C>A (p.Ala1393=)
c.3624C>A (p.Ala1208=)
c.4098C>A (p.Ala1366=)
c.4071C>A (p.Ala1357=)
c.2505C>A (p.Ala835=)
n.4489C>A
c.4062C>A (p.Ala1354=)
n.4505C>A
 gnomAD v4
2g.227022086G>ACA350836701COL4A4c.4178C>T (p.Ala1393Val)
c.3623C>T (p.Ala1208Val)
c.4097C>T (p.Ala1366Val)
c.4070C>T (p.Ala1357Val)
c.2504C>T (p.Ala835Val)
n.4488C>T
c.4061C>T (p.Ala1354Val)
n.4504C>T
 COSMIC
2g.227022086G>CCA350836702COL4A4c.4178C>G (p.Ala1393Gly)
c.3623C>G (p.Ala1208Gly)
c.4097C>G (p.Ala1366Gly)
c.4070C>G (p.Ala1357Gly)
c.2504C>G (p.Ala835Gly)
n.4488C>G
c.4061C>G (p.Ala1354Gly)
n.4504C>G
 dbSNP
2g.227022086G=CA1332730268COL4A4c.4178C= (p.Ala1393=)
c.3623C= (p.Ala1208=)
c.4097C= (p.Ala1366=)
c.4070C= (p.Ala1357=)
c.2504C= (p.Ala835=)
n.4488C=
c.4061C= (p.Ala1354=)
n.4504C=
2g.227022086G>TCA350836703COL4A4c.4178C>A (p.Ala1393Asp)
c.3623C>A (p.Ala1208Asp)
c.4097C>A (p.Ala1366Asp)
c.4070C>A (p.Ala1357Asp)
c.2504C>A (p.Ala835Asp)
n.4488C>A
c.4061C>A (p.Ala1354Asp)
n.4504C>A
2g.227022087C>ACA350836704COL4A4c.4177G>T (p.Ala1393Ser)
c.3622G>T (p.Ala1208Ser)
c.4096G>T (p.Ala1366Ser)
c.4069G>T (p.Ala1357Ser)
c.2503G>T (p.Ala835Ser)
n.4487G>T
c.4060G>T (p.Ala1354Ser)
n.4503G>T
2g.227022087C>GCA350836705COL4A4c.4177G>C (p.Ala1393Pro)
c.3622G>C (p.Ala1208Pro)
c.4096G>C (p.Ala1366Pro)
c.4069G>C (p.Ala1357Pro)
c.2503G>C (p.Ala835Pro)
n.4487G>C
c.4060G>C (p.Ala1354Pro)
n.4503G>C
2g.227022087C>TCA350836706COL4A4c.4177G>A (p.Ala1393Thr)
c.3622G>A (p.Ala1208Thr)
c.4096G>A (p.Ala1366Thr)
c.4069G>A (p.Ala1357Thr)
c.2503G>A (p.Ala835Thr)
n.4487G>A
c.4060G>A (p.Ala1354Thr)
n.4503G>A
2g.227022088T>ACA431494831COL4A4c.4176A>T (p.Gly1392=)
c.3621A>T (p.Gly1207=)
c.4095A>T (p.Gly1365=)
c.4068A>T (p.Gly1356=)
c.2502A>T (p.Gly834=)
n.4486A>T
c.4059A>T (p.Gly1353=)
n.4502A>T
2g.227022088T>CCA431494833COL4A4c.4176A>G (p.Gly1392=)
c.3621A>G (p.Gly1207=)
c.4095A>G (p.Gly1365=)
c.4068A>G (p.Gly1356=)
c.2502A>G (p.Gly834=)
n.4486A>G
c.4059A>G (p.Gly1353=)
n.4502A>G
2g.227022088T>GCA2144262COL4A4c.4176A>C (p.Gly1392=)
c.3621A>C (p.Gly1207=)
c.4095A>C (p.Gly1365=)
c.4068A>C (p.Gly1356=)
c.2502A>C (p.Gly834=)
n.4486A>C
c.4059A>C (p.Gly1353=)
n.4502A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227022088T=CA1332730269COL4A4c.4176A= (p.Gly1392=)
c.3621A= (p.Gly1207=)
c.4095A= (p.Gly1365=)
c.4068A= (p.Gly1356=)
c.2502A= (p.Gly834=)
n.4486A=
c.4059A= (p.Gly1353=)
n.4502A=
2g.227022089C>ACA350836708COL4A4c.4175G>T (p.Gly1392Val)
c.3620G>T (p.Gly1207Val)
c.4094G>T (p.Gly1365Val)
c.4067G>T (p.Gly1356Val)
c.2501G>T (p.Gly834Val)
n.4485G>T
c.4058G>T (p.Gly1353Val)
n.4501G>T
2g.227022089C=CA1332730270COL4A4c.4175G= (p.Gly1392=)
c.3620G= (p.Gly1207=)
c.4094G= (p.Gly1365=)
c.4067G= (p.Gly1356=)
c.2501G= (p.Gly834=)
n.4485G=
c.4058G= (p.Gly1353=)
n.4501G=
2g.227022089C>GCA350836707COL4A4c.4175G>C (p.Gly1392Ala)
c.3620G>C (p.Gly1207Ala)
c.4094G>C (p.Gly1365Ala)
c.4067G>C (p.Gly1356Ala)
c.2501G>C (p.Gly834Ala)
n.4485G>C
c.4058G>C (p.Gly1353Ala)
n.4501G>C
 ClinVar dbSNP
2g.227022089C>TCA350836709COL4A4c.4175G>A (p.Gly1392Glu)
c.3620G>A (p.Gly1207Glu)
c.4094G>A (p.Gly1365Glu)
c.4067G>A (p.Gly1356Glu)
c.2501G>A (p.Gly834Glu)
n.4485G>A
c.4058G>A (p.Gly1353Glu)
n.4501G>A
2g.227022090delCA2580065819COL4A4c.4175del (p.Gly1392GlufsTer8)
c.3620del (p.Gly1207GlufsTer8)
c.4094del (p.Gly1365GlufsTer8)
c.4067del (p.Gly1356GlufsTer8)
c.2501del (p.Gly834GlufsTer8)
n.4485del
c.4058del (p.Gly1353GlufsTer8)
n.4501del
 ClinVar
2g.227022090C>ACA350836710COL4A4c.4174G>T (p.Gly1392Ter)
c.3619G>T (p.Gly1207Ter)
c.4093G>T (p.Gly1365Ter)
c.4066G>T (p.Gly1356Ter)
c.2500G>T (p.Gly834Ter)
n.4484G>T
c.4057G>T (p.Gly1353Ter)
n.4500G>T
 ClinVar
2g.227022090C>GCA350836712COL4A4c.4174G>C (p.Gly1392Arg)
c.3619G>C (p.Gly1207Arg)
c.4093G>C (p.Gly1365Arg)
c.4066G>C (p.Gly1356Arg)
c.2500G>C (p.Gly834Arg)
n.4484G>C
c.4057G>C (p.Gly1353Arg)
n.4500G>C
2g.227022090C>TCA350836711COL4A4c.4174G>A (p.Gly1392Arg)
c.3619G>A (p.Gly1207Arg)
c.4093G>A (p.Gly1365Arg)
c.4066G>A (p.Gly1356Arg)
c.2500G>A (p.Gly834Arg)
n.4484G>A
c.4057G>A (p.Gly1353Arg)
n.4500G>A

Number of alleles fetched