Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108580911A>GCA2694412949COL4A5c.892-72A>G (n.892-72A>G)
c.568-72A>G (n.568-72A>G)
c.907-72A>G (n.907-72A>G)
 gnomAD v4
Xg.108580911dupCA2694412947COL4A5c.892-72dup (n.892-72dup)
c.568-72dup (n.568-72dup)
c.907-72dup (n.907-72dup)
 gnomAD v4
Xg.108580912T>CCA869794218COL4A5c.892-71T>C (n.892-71T>C)
c.568-71T>C (n.568-71T>C)
c.907-71T>C (n.907-71T>C)
 dbSNP
Xg.108580912T=CA2450683163COL4A5c.892-71T= (n.892-71T=)
c.568-71T= (n.568-71T=)
c.907-71T= (n.907-71T=)
Xg.108580913A>GCA2694412950COL4A5c.892-70A>G (n.892-70A>G)
c.568-70A>G (n.568-70A>G)
c.907-70A>G (n.907-70A>G)
 gnomAD v4
Xg.108580914T>CCA2450683165COL4A5c.892-69T>C (n.892-69T>C)
c.568-69T>C (n.568-69T>C)
c.907-69T>C (n.907-69T>C)
 dbSNP
Xg.108580914T=CA2450683164COL4A5c.892-69T= (n.892-69T=)
c.568-69T= (n.568-69T=)
c.907-69T= (n.907-69T=)
Xg.108580918T>GCA2822895121COL4A5c.892-65T>G (n.892-65T>G)
c.568-65T>G (n.568-65T>G)
c.907-65T>G (n.907-65T>G)
Xg.108580919T>CCA2694412952COL4A5c.892-64T>C (n.892-64T>C)
c.568-64T>C (n.568-64T>C)
c.907-64T>C (n.907-64T>C)
 gnomAD v4
Xg.108580923T>GCA2694412955COL4A5c.892-60T>G (n.892-60T>G)
c.568-60T>G (n.568-60T>G)
c.907-60T>G (n.907-60T>G)
 gnomAD v4
Xg.108580928G>ACA869794228COL4A5c.892-55G>A (n.892-55G>A)
c.568-55G>A (n.568-55G>A)
c.907-55G>A (n.907-55G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580928G=CA2450683166COL4A5c.892-55G= (n.892-55G=)
c.568-55G= (n.568-55G=)
c.907-55G= (n.907-55G=)
Xg.108580930T>CCA2822895123COL4A5c.892-53T>C (n.892-53T>C)
c.568-53T>C (n.568-53T>C)
c.907-53T>C (n.907-53T>C)
Xg.108580931T>CCA2822895127COL4A5c.892-52T>C (n.892-52T>C)
c.568-52T>C (n.568-52T>C)
c.907-52T>C (n.907-52T>C)
Xg.108580932C>ACA2694412962COL4A5c.892-51C>A (n.892-51C>A)
c.568-51C>A (n.568-51C>A)
c.907-51C>A (n.907-51C>A)
 gnomAD v4
Xg.108580933C>ACA2694412967COL4A5c.892-50C>A (n.892-50C>A)
c.568-50C>A (n.568-50C>A)
c.907-50C>A (n.907-50C>A)
 gnomAD v4
Xg.108580938_108580941delCA2694412965COL4A5c.892-45_892-42del (n.892-45_892-42del)
c.568-45_568-42del (n.568-45_568-42del)
c.907-45_907-42del (n.907-45_907-42del)
 gnomAD v4
Xg.108580934T>ACA2579675996COL4A5c.892-49T>A (n.892-49T>A)
c.568-49T>A (n.568-49T>A)
c.907-49T>A (n.907-49T>A)
Xg.108580935A=CA2450683167COL4A5c.892-48A= (n.892-48A=)
c.568-48A= (n.568-48A=)
c.907-48A= (n.907-48A=)
Xg.108580935A>GCA2450683168COL4A5c.892-48A>G (n.892-48A>G)
c.568-48A>G (n.568-48A>G)
c.907-48A>G (n.907-48A>G)
 dbSNP gnomAD v4
Xg.108580937C>ACA2694412969COL4A5c.892-46C>A (n.892-46C>A)
c.568-46C>A (n.568-46C>A)
c.907-46C>A (n.907-46C>A)
 gnomAD v4
Xg.108580938T>CCA10488608COL4A5c.892-45T>C (n.892-45T>C)
c.568-45T>C (n.568-45T>C)
c.907-45T>C (n.907-45T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580938T=CA2450683169COL4A5c.892-45T= (n.892-45T=)
c.568-45T= (n.568-45T=)
c.907-45T= (n.907-45T=)
Xg.108580941C>ACA10488609COL4A5c.892-42C>A (n.892-42C>A)
c.568-42C>A (n.568-42C>A)
c.907-42C>A (n.907-42C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580941C=CA2450683170COL4A5c.892-42C= (n.892-42C=)
c.568-42C= (n.568-42C=)
c.907-42C= (n.907-42C=)
Xg.108580941C>TCA643750294COL4A5c.892-42C>T (n.892-42C>T)
c.568-42C>T (n.568-42C>T)
c.907-42C>T (n.907-42C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580942A=CA2450683171COL4A5c.892-41A= (n.892-41A=)
c.568-41A= (n.568-41A=)
c.907-41A= (n.907-41A=)
Xg.108580942A>GCA643750295COL4A5c.892-41A>G (n.892-41A>G)
c.568-41A>G (n.568-41A>G)
c.907-41A>G (n.907-41A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580943A>GCA2694412979COL4A5c.892-40A>G (n.892-40A>G)
c.568-40A>G (n.568-40A>G)
c.907-40A>G (n.907-40A>G)
 gnomAD v4
Xg.108580947T>CCA2694412982COL4A5c.892-36T>C (n.892-36T>C)
c.568-36T>C (n.568-36T>C)
c.907-36T>C (n.907-36T>C)
 gnomAD v4
Xg.108580948_108580949delCA2694412983COL4A5c.892-35_892-34del (n.892-35_892-34del)
c.568-35_568-34del (n.568-35_568-34del)
c.907-35_907-34del (n.907-35_907-34del)
 gnomAD v4
Xg.108580948A>GCA2694412984COL4A5c.892-35A>G (n.892-35A>G)
c.568-35A>G (n.568-35A>G)
c.907-35A>G (n.907-35A>G)
 gnomAD v4
Xg.108580951T>GCA334180711COL4A5c.892-32T>G (n.892-32T>G)
c.568-32T>G (n.568-32T>G)
c.907-32T>G (n.907-32T>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580951T=CA2450683172COL4A5c.892-32T= (n.892-32T=)
c.568-32T= (n.568-32T=)
c.907-32T= (n.907-32T=)
Xg.108580953G>ACA2694412989COL4A5c.892-30G>A (n.892-30G>A)
c.568-30G>A (n.568-30G>A)
c.907-30G>A (n.907-30G>A)
 gnomAD v4
Xg.108580954T>CCA2694412992COL4A5c.892-29T>C (n.892-29T>C)
c.568-29T>C (n.568-29T>C)
c.907-29T>C (n.907-29T>C)
 gnomAD v4
Xg.108580955T>CCA2694412999COL4A5c.892-28T>C (n.892-28T>C)
c.568-28T>C (n.568-28T>C)
c.907-28T>C (n.907-28T>C)
 gnomAD v4
Xg.108580956G>ACA2579675997COL4A5c.892-27G>A (n.892-27G>A)
c.568-27G>A (n.568-27G>A)
c.907-27G>A (n.907-27G>A)
 gnomAD v4
Xg.108580956G>CCA2694413007COL4A5c.892-27G>C (n.892-27G>C)
c.568-27G>C (n.568-27G>C)
c.907-27G>C (n.907-27G>C)
 gnomAD v4
Xg.108580956G>TCA2532520177COL4A5c.892-27G>T (n.892-27G>T)
c.568-27G>T (n.568-27G>T)
c.907-27G>T (n.907-27G>T)
Xg.108580957C>ACA2579675998COL4A5c.892-26C>A (n.892-26C>A)
c.568-26C>A (n.568-26C>A)
c.907-26C>A (n.907-26C>A)
 gnomAD v4
Xg.108580957C=CA2450683173COL4A5c.892-26C= (n.892-26C=)
c.568-26C= (n.568-26C=)
c.907-26C= (n.907-26C=)
Xg.108580957C>TCA10488610COL4A5c.892-26C>T (n.892-26C>T)
c.568-26C>T (n.568-26C>T)
c.907-26C>T (n.907-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580958C>ACA2694413016COL4A5c.892-25C>A (n.892-25C>A)
c.568-25C>A (n.568-25C>A)
c.907-25C>A (n.907-25C>A)
 gnomAD v4
Xg.108580958C>TCA2579675999COL4A5c.892-25C>T (n.892-25C>T)
c.568-25C>T (n.568-25C>T)
c.907-25C>T (n.907-25C>T)
Xg.108580959C>ACA2694413021COL4A5c.892-24C>A (n.892-24C>A)
c.568-24C>A (n.568-24C>A)
c.907-24C>A (n.907-24C>A)
 gnomAD v4
Xg.108580959C>GCA2694413025COL4A5c.892-24C>G (n.892-24C>G)
c.568-24C>G (n.568-24C>G)
c.907-24C>G (n.907-24C>G)
 gnomAD v4
Xg.108580959C>TCA2694413029COL4A5c.892-24C>T (n.892-24C>T)
c.568-24C>T (n.568-24C>T)
c.907-24C>T (n.907-24C>T)
 gnomAD v4
Xg.108580961A=CA2450683174COL4A5c.892-22A= (n.892-22A=)
c.568-22A= (n.568-22A=)
c.907-22A= (n.907-22A=)
Xg.108580961A>GCA10488611COL4A5c.892-22A>G (n.892-22A>G)
c.568-22A>G (n.568-22A>G)
c.907-22A>G (n.907-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580962T>CCA2694413036COL4A5c.892-21T>C (n.892-21T>C)
c.568-21T>C (n.568-21T>C)
c.907-21T>C (n.907-21T>C)
 gnomAD v4
Xg.108580963_108580969dupCA2579676000COL4A5c.892-20_892-14dup (n.892-20_892-14dup)
c.568-20_568-14dup (n.568-20_568-14dup)
c.907-20_907-14dup (n.907-20_907-14dup)
 gnomAD v4
Xg.108580963C>ACA2694413038COL4A5c.892-20C>A (n.892-20C>A)
c.568-20C>A (n.568-20C>A)
c.907-20C>A (n.907-20C>A)
 gnomAD v4
Xg.108580964A>GCA2694413042COL4A5c.892-19A>G (n.892-19A>G)
c.568-19A>G (n.568-19A>G)
c.907-19A>G (n.907-19A>G)
 gnomAD v4
Xg.108580964_108580965delinsATCA2450683175COL4A5c.892-19_892-18delinsAT (n.892-19_892-18delinsAT)
c.568-19_568-18delinsAT (n.568-19_568-18delinsAT)
c.907-19_907-18delinsAT (n.907-19_907-18delinsAT)
Xg.108580965T>ACA2450683177COL4A5c.892-18T>A (n.892-18T>A)
c.568-18T>A (n.568-18T>A)
c.907-18T>A (n.907-18T>A)
 dbSNP
Xg.108580965T>GCA915940427COL4A5c.892-18T>G (n.892-18T>G)
c.568-18T>G (n.568-18T>G)
c.907-18T>G (n.907-18T>G)
Xg.108580965T=CA2450683176COL4A5c.892-18T= (n.892-18T=)
c.568-18T= (n.568-18T=)
c.907-18T= (n.907-18T=)
Xg.108580967delCA10488612COL4A5c.892-16del (n.892-16del)
c.568-16del (n.568-16del)
c.907-16del (n.907-16del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580967T>ACA2739273687COL4A5c.892-16T>A (n.892-16T>A)
c.568-16T>A (n.568-16T>A)
c.907-16T>A (n.907-16T>A)
 ClinVar
Xg.108580968C=CA2450683178COL4A5c.892-15C= (n.892-15C=)
c.568-15C= (n.568-15C=)
c.907-15C= (n.907-15C=)
Xg.108580968C>TCA643750296COL4A5c.892-15C>T (n.892-15C>T)
c.568-15C>T (n.568-15C>T)
c.907-15C>T (n.907-15C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580969T>CCA869794250COL4A5c.892-14T>C (n.892-14T>C)
c.568-14T>C (n.568-14T>C)
c.907-14T>C (n.907-14T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580969T=CA2450683179COL4A5c.892-14T= (n.892-14T=)
c.568-14T= (n.568-14T=)
c.907-14T= (n.907-14T=)
Xg.108580970_108580973delCA2579676001COL4A5c.892-13_892-10del (n.892-13_892-10del)
c.568-13_568-10del (n.568-13_568-10del)
c.907-13_907-10del (n.907-13_907-10del)
Xg.108580971T>CCA2579676002COL4A5c.892-12T>C (n.892-12T>C)
c.568-12T>C (n.568-12T>C)
c.907-12T>C (n.907-12T>C)
 ClinVar gnomAD v4
Xg.108580973T>ACA869794252COL4A5c.892-10T>A (n.892-10T>A)
c.568-10T>A (n.568-10T>A)
c.907-10T>A (n.907-10T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108580973T>CCA10488613COL4A5c.892-10T>C (n.892-10T>C)
c.568-10T>C (n.568-10T>C)
c.907-10T>C (n.907-10T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580973T=CA2450683180COL4A5c.892-10T= (n.892-10T=)
c.568-10T= (n.568-10T=)
c.907-10T= (n.907-10T=)
Xg.108580974A=CA2450683181COL4A5c.892-9A= (n.892-9A=)
c.568-9A= (n.568-9A=)
c.907-9A= (n.907-9A=)
Xg.108580974A>GCA1136179843COL4A5c.892-9A>G (n.892-9A>G)
c.568-9A>G (n.568-9A>G)
c.907-9A>G (n.907-9A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108580975T>CCA2579676003COL4A5c.892-8T>C (n.892-8T>C)
c.568-8T>C (n.568-8T>C)
c.907-8T>C (n.907-8T>C)
Xg.108580976C>ACA10488614COL4A5c.892-7C>A (n.892-7C>A)
c.568-7C>A (n.568-7C>A)
c.907-7C>A (n.907-7C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580976C=CA2450683182COL4A5c.892-7C= (n.892-7C=)
c.568-7C= (n.568-7C=)
c.907-7C= (n.907-7C=)
Xg.108580979A=CA2450683183COL4A5c.892-4A= (n.892-4A=)
c.568-4A= (n.568-4A=)
c.907-4A= (n.907-4A=)
Xg.108580979A>CCA2499226304COL4A5c.892-4A>C (n.892-4A>C)
c.568-4A>C (n.568-4A>C)
c.907-4A>C (n.907-4A>C)
 ClinVar dbSNP
Xg.108580979A>GCA10488615COL4A5c.892-4A>G (n.892-4A>G)
c.568-4A>G (n.568-4A>G)
c.907-4A>G (n.907-4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580980T>CCA10488616COL4A5c.892-3T>C (n.892-3T>C)
c.568-3T>C (n.568-3T>C)
c.907-3T>C (n.907-3T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580980T=CA2450683184COL4A5c.892-3T= (n.892-3T=)
c.568-3T= (n.568-3T=)
c.907-3T= (n.907-3T=)
Xg.108580981A=CA2450683185COL4A5c.892-2A= (n.892-2A=)
c.568-2A= (n.568-2A=)
c.907-2A= (n.907-2A=)
Xg.108580981A>CCA413926690COL4A5c.892-2A>C (n.892-2A>C)
c.568-2A>C (n.568-2A>C)
c.907-2A>C (n.907-2A>C)
Xg.108580981A>GCA258349COL4A5c.892-2A>G (n.892-2A>G)
c.568-2A>G (n.568-2A>G)
c.907-2A>G (n.907-2A>G)
 ClinVar dbSNP
Xg.108580981A>TCA413926689COL4A5c.892-2A>T (n.892-2A>T)
c.568-2A>T (n.568-2A>T)
c.907-2A>T (n.907-2A>T)
Xg.108580982G>ACA413926693COL4A5c.892-1G>A (n.892-1G>A)
c.568-1G>A (n.568-1G>A)
c.907-1G>A (n.907-1G>A)
Xg.108580982G>CCA258350COL4A5c.892-1G>C (n.892-1G>C)
c.568-1G>C (n.568-1G>C)
c.907-1G>C (n.907-1G>C)
 dbSNP COSMIC COSMIC
Xg.108580982G=CA2450683186COL4A5c.892-1G= (n.892-1G=)
c.568-1G= (n.568-1G=)
c.907-1G= (n.907-1G=)
Xg.108580982G>TCA413926709COL4A5c.892-1G>T (n.892-1G>T)
c.568-1G>T (n.568-1G>T)
c.907-1G>T (n.907-1G>T)
Xg.108580983G>ACA258351COL4A5c.892G>A (p.Gly298Ser)
c.568G>A (p.Gly190Ser)
c.907G>A (p.Gly303Ser)
 dbSNP
Xg.108580983G>CCA413926710COL4A5c.892G>C (p.Gly298Arg)
c.568G>C (p.Gly190Arg)
c.907G>C (p.Gly303Arg)
Xg.108580983G=CA2450683187COL4A5c.892G= (p.Gly298=)
c.568G= (p.Gly190=)
c.907G= (p.Gly303=)
Xg.108580983G>TCA413926711COL4A5c.892G>T (p.Gly298Cys)
c.568G>T (p.Gly190Cys)
c.907G>T (p.Gly303Cys)
Xg.108580984G>ACA413926716COL4A5c.893G>A (p.Gly298Asp)
c.569G>A (p.Gly190Asp)
c.908G>A (p.Gly303Asp)
 ClinVar
Xg.108580984G>CCA413926719COL4A5c.893G>C (p.Gly298Ala)
c.569G>C (p.Gly190Ala)
c.908G>C (p.Gly303Ala)
Xg.108580984G=CA2450683188COL4A5c.893G= (p.Gly298=)
c.569G= (p.Gly190=)
c.908G= (p.Gly303=)
Xg.108580984G>TCA413926723COL4A5c.893G>T (p.Gly298Val)
c.569G>T (p.Gly190Val)
c.908G>T (p.Gly303Val)
Xg.108580985T>ACA517991917COL4A5c.894T>A (p.Gly298=)
c.570T>A (p.Gly190=)
c.909T>A (p.Gly303=)
Xg.108580985T>CCA517991918COL4A5c.894T>C (p.Gly298=)
c.570T>C (p.Gly190=)
c.909T>C (p.Gly303=)
Xg.108580985T>GCA517991919COL4A5c.894T>G (p.Gly298=)
c.570T>G (p.Gly190=)
c.909T>G (p.Gly303=)
Xg.108580986A>CCA413926726COL4A5c.895A>C (p.Lys299Gln)
c.571A>C (p.Lys191Gln)
c.910A>C (p.Lys304Gln)
Xg.108580986A>GCA413926728COL4A5c.895A>G (p.Lys299Glu)
c.571A>G (p.Lys191Glu)
c.910A>G (p.Lys304Glu)
 gnomAD v4
Xg.108580986A>TCA413926730COL4A5c.895A>T (p.Lys299Ter)
c.571A>T (p.Lys191Ter)
c.910A>T (p.Lys304Ter)
Xg.108580988delCA2579676004COL4A5c.897del (p.Lys299AsnfsTer?)
c.573del (p.Lys191AsnfsTer?)
c.912del (p.Lys304AsnfsTer?)
Xg.108580987A>CCA413926737COL4A5c.896A>C (p.Lys299Thr)
c.572A>C (p.Lys191Thr)
c.911A>C (p.Lys304Thr)
Xg.108580987A>GCA413926735COL4A5c.896A>G (p.Lys299Arg)
c.572A>G (p.Lys191Arg)
c.911A>G (p.Lys304Arg)
Xg.108580987A>TCA413926733COL4A5c.896A>T (p.Lys299Ile)
c.572A>T (p.Lys191Ile)
c.911A>T (p.Lys304Ile)
Xg.108580988A>CCA413926741COL4A5c.897A>C (p.Lys299Asn)
c.573A>C (p.Lys191Asn)
c.912A>C (p.Lys304Asn)
Xg.108580988A>GCA517991920COL4A5c.897A>G (p.Lys299=)
c.573A>G (p.Lys191=)
c.912A>G (p.Lys304=)
 gnomAD v4
Xg.108580988A>TCA413926743COL4A5c.897A>T (p.Lys299Asn)
c.573A>T (p.Lys191Asn)
c.912A>T (p.Lys304Asn)
Xg.108580989C>ACA413926754COL4A5c.898C>A (p.Pro300Thr)
c.574C>A (p.Pro192Thr)
c.913C>A (p.Pro305Thr)
Xg.108580989C>GCA413926758COL4A5c.898C>G (p.Pro300Ala)
c.574C>G (p.Pro192Ala)
c.913C>G (p.Pro305Ala)
 gnomAD v4
Xg.108580989C>TCA413926760COL4A5c.898C>T (p.Pro300Ser)
c.574C>T (p.Pro192Ser)
c.913C>T (p.Pro305Ser)
Xg.108580990delCA2694413075COL4A5c.899del (p.Pro300GlnfsTer?)
c.575del (p.Pro192GlnfsTer?)
c.914del (p.Pro305GlnfsTer?)
 gnomAD v4
Xg.108580990C>ACA413926765COL4A5c.899C>A (p.Pro300Gln)
c.575C>A (p.Pro192Gln)
c.914C>A (p.Pro305Gln)
Xg.108580990C=CA2450683189COL4A5c.899C= (p.Pro300=)
c.575C= (p.Pro192=)
c.914C= (p.Pro305=)
Xg.108580990C>GCA413926776COL4A5c.899C>G (p.Pro300Arg)
c.575C>G (p.Pro192Arg)
c.914C>G (p.Pro305Arg)
Xg.108580990C>TCA10488617COL4A5c.899C>T (p.Pro300Leu)
c.575C>T (p.Pro192Leu)
c.914C>T (p.Pro305Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580991A>CCA517991921COL4A5c.900A>C (p.Pro300=)
c.576A>C (p.Pro192=)
c.915A>C (p.Pro305=)
Xg.108580991A>GCA517991922COL4A5c.900A>G (p.Pro300=)
c.576A>G (p.Pro192=)
c.915A>G (p.Pro305=)
Xg.108580991A>TCA517991923COL4A5c.900A>T (p.Pro300=)
c.576A>T (p.Pro192=)
c.915A>T (p.Pro305=)
Xg.108580992G>ACA413926783COL4A5c.901G>A (p.Gly301Ser)
c.577G>A (p.Gly193Ser)
c.916G>A (p.Gly306Ser)
Xg.108580992G>CCA413926787COL4A5c.901G>C (p.Gly301Arg)
c.577G>C (p.Gly193Arg)
c.916G>C (p.Gly306Arg)
Xg.108580992G>TCA413926791COL4A5c.901G>T (p.Gly301Cys)
c.577G>T (p.Gly193Cys)
c.916G>T (p.Gly306Cys)
Xg.108580993G>ACA413926792COL4A5c.902G>A (p.Gly301Asp)
c.578G>A (p.Gly193Asp)
c.917G>A (p.Gly306Asp)
 ClinVar dbSNP
Xg.108580993G>CCA413926795COL4A5c.902G>C (p.Gly301Ala)
c.578G>C (p.Gly193Ala)
c.917G>C (p.Gly306Ala)
Xg.108580993G=CA2450683190COL4A5c.902G= (p.Gly301=)
c.578G= (p.Gly193=)
c.917G= (p.Gly306=)
Xg.108580993G>TCA413926799COL4A5c.902G>T (p.Gly301Val)
c.578G>T (p.Gly193Val)
c.917G>T (p.Gly306Val)
 ClinVar
Xg.108580994C>ACA334180728COL4A5c.903C>A (p.Gly301=)
c.579C>A (p.Gly193=)
c.918C>A (p.Gly306=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580994C=CA2450683191COL4A5c.903C= (p.Gly301=)
c.579C= (p.Gly193=)
c.918C= (p.Gly306=)
Xg.108580994C>GCA517991925COL4A5c.903C>G (p.Gly301=)
c.579C>G (p.Gly193=)
c.918C>G (p.Gly306=)
Xg.108580994C>TCA517991924COL4A5c.903C>T (p.Gly301=)
c.579C>T (p.Gly193=)
c.918C>T (p.Gly306=)
Xg.108580995A>CCA413926806COL4A5c.904A>C (p.Lys302Gln)
c.580A>C (p.Lys194Gln)
c.919A>C (p.Lys307Gln)
Xg.108580995A>GCA413926808COL4A5c.904A>G (p.Lys302Glu)
c.580A>G (p.Lys194Glu)
c.919A>G (p.Lys307Glu)
Xg.108580995A>TCA413926803COL4A5c.904A>T (p.Lys302Ter)
c.580A>T (p.Lys194Ter)
c.919A>T (p.Lys307Ter)
Xg.108580996A>CCA413926812COL4A5c.905A>C (p.Lys302Thr)
c.581A>C (p.Lys194Thr)
c.920A>C (p.Lys307Thr)
Xg.108580996A>GCA413926817COL4A5c.905A>G (p.Lys302Arg)
c.581A>G (p.Lys194Arg)
c.920A>G (p.Lys307Arg)
Xg.108580996A>TCA413926819COL4A5c.905A>T (p.Lys302Ile)
c.581A>T (p.Lys194Ile)
c.920A>T (p.Lys307Ile)
Xg.108580997A>CCA413926822COL4A5c.906A>C (p.Lys302Asn)
c.582A>C (p.Lys194Asn)
c.921A>C (p.Lys307Asn)
Xg.108580997A>GCA517991926COL4A5c.906A>G (p.Lys302=)
c.582A>G (p.Lys194=)
c.921A>G (p.Lys307=)
Xg.108580997A>TCA413926824COL4A5c.906A>T (p.Lys302Asn)
c.582A>T (p.Lys194Asn)
c.921A>T (p.Lys307Asn)
Xg.108580998G>ACA413926830COL4A5c.907G>A (p.Asp303Asn)
c.583G>A (p.Asp195Asn)
c.922G>A (p.Asp308Asn)
Xg.108580998G>CCA10488618COL4A5c.907G>C (p.Asp303His)
c.583G>C (p.Asp195His)
c.922G>C (p.Asp308His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580998G=CA2450683192COL4A5c.907G= (p.Asp303=)
c.583G= (p.Asp195=)
c.922G= (p.Asp308=)
Xg.108580998G>TCA413926826COL4A5c.907G>T (p.Asp303Tyr)
c.583G>T (p.Asp195Tyr)
c.922G>T (p.Asp308Tyr)
Xg.108580999A>CCA413926842COL4A5c.908A>C (p.Asp303Ala)
c.584A>C (p.Asp195Ala)
c.923A>C (p.Asp308Ala)
Xg.108580999A>GCA413926851COL4A5c.908A>G (p.Asp303Gly)
c.584A>G (p.Asp195Gly)
c.923A>G (p.Asp308Gly)
 gnomAD v4
Xg.108580999A>TCA413926854COL4A5c.908A>T (p.Asp303Val)
c.584A>T (p.Asp195Val)
c.923A>T (p.Asp308Val)
 ClinVar
Xg.108581000T>ACA413926859COL4A5c.909T>A (p.Asp303Glu)
c.585T>A (p.Asp195Glu)
c.924T>A (p.Asp308Glu)
Xg.108581000T>CCA10488619COL4A5c.909T>C (p.Asp303=)
c.585T>C (p.Asp195=)
c.924T>C (p.Asp308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108581000T>GCA413926862COL4A5c.909T>G (p.Asp303Glu)
c.585T>G (p.Asp195Glu)
c.924T>G (p.Asp308Glu)
Xg.108581000T=CA2450683193COL4A5c.909T= (p.Asp303=)
c.585T= (p.Asp195=)
c.924T= (p.Asp308=)
Xg.108581001G>ACA413926865COL4A5c.910G>A (p.Gly304Arg)
c.586G>A (p.Gly196Arg)
c.925G>A (p.Gly309Arg)
Xg.108581001G>CCA413926870COL4A5c.910G>C (p.Gly304Arg)
c.586G>C (p.Gly196Arg)
c.925G>C (p.Gly309Arg)
Xg.108581001G>TCA413926867COL4A5c.910G>T (p.Gly304Ter)
c.586G>T (p.Gly196Ter)
c.925G>T (p.Gly309Ter)
Xg.108581002G>ACA413926874COL4A5c.911G>A (p.Gly304Glu)
c.587G>A (p.Gly196Glu)
c.926G>A (p.Gly309Glu)
Xg.108581002G>CCA413926877COL4A5c.911G>C (p.Gly304Ala)
c.587G>C (p.Gly196Ala)
c.926G>C (p.Gly309Ala)
Xg.108581002G>TCA413926879COL4A5c.911G>T (p.Gly304Val)
c.587G>T (p.Gly196Val)
c.926G>T (p.Gly309Val)
Xg.108581003A>CCA517991927COL4A5c.912A>C (p.Gly304=)
c.588A>C (p.Gly196=)
c.927A>C (p.Gly309=)
Xg.108581003A>GCA517991928COL4A5c.912A>G (p.Gly304=)
c.588A>G (p.Gly196=)
c.927A>G (p.Gly309=)
Xg.108581003A>TCA517991929COL4A5c.912A>T (p.Gly304=)
c.588A>T (p.Gly196=)
c.927A>T (p.Gly309=)
Xg.108581004G>ACA413926887COL4A5c.913G>A (p.Glu305Lys)
c.589G>A (p.Glu197Lys)
c.928G>A (p.Glu310Lys)
Xg.108581004G>CCA413926894COL4A5c.913G>C (p.Glu305Gln)
c.589G>C (p.Glu197Gln)
c.928G>C (p.Glu310Gln)
Xg.108581004G=CA2450683194COL4A5c.913G= (p.Glu305=)
c.589G= (p.Glu197=)
c.928G= (p.Glu310=)
Xg.108581004G>TCA258353COL4A5c.913G>T (p.Glu305Ter)
c.589G>T (p.Glu197Ter)
c.928G>T (p.Glu310Ter)
 ClinVar dbSNP
Xg.108581004_108581005delinsGACA2450683195COL4A5c.913_914delinsGA (p.Glu305=)
c.589_590delinsGA (p.Glu197=)
c.928_929delinsGA (p.Glu310=)
Xg.108581005A>CCA413926897COL4A5c.914A>C (p.Glu305Ala)
c.590A>C (p.Glu197Ala)
c.929A>C (p.Glu310Ala)
Xg.108581005A>GCA413926899COL4A5c.914A>G (p.Glu305Gly)
c.590A>G (p.Glu197Gly)
c.929A>G (p.Glu310Gly)
Xg.108581005A>TCA413926900COL4A5c.914A>T (p.Glu305Val)
c.590A>T (p.Glu197Val)
c.929A>T (p.Glu310Val)
Xg.108581008delCA517991930COL4A5c.917del (p.Asn306MetfsTer?)
c.593del (p.Asn198MetfsTer?)
c.932del (p.Asn311MetfsTer?)
 ClinVar dbSNP COSMIC COSMIC
Xg.108581006A>CCA413926903COL4A5c.915A>C (p.Glu305Asp)
c.591A>C (p.Glu197Asp)
c.930A>C (p.Glu310Asp)
Xg.108581006A>GCA517991931COL4A5c.915A>G (p.Glu305=)
c.591A>G (p.Glu197=)
c.930A>G (p.Glu310=)
Xg.108581006A>TCA413926904COL4A5c.915A>T (p.Glu305Asp)
c.591A>T (p.Glu197Asp)
c.930A>T (p.Glu310Asp)
Xg.108581007A>CCA413926909COL4A5c.916A>C (p.Asn306His)
c.592A>C (p.Asn198His)
c.931A>C (p.Asn311His)
Xg.108581007A>GCA413926912COL4A5c.916A>G (p.Asn306Asp)
c.592A>G (p.Asn198Asp)
c.931A>G (p.Asn311Asp)
Xg.108581007A>TCA413926907COL4A5c.916A>T (p.Asn306Tyr)
c.592A>T (p.Asn198Tyr)
c.931A>T (p.Asn311Tyr)
Xg.108581008A>CCA413926929COL4A5c.917A>C (p.Asn306Thr)
c.593A>C (p.Asn198Thr)
c.932A>C (p.Asn311Thr)
Xg.108581008A>GCA413926923COL4A5c.917A>G (p.Asn306Ser)
c.593A>G (p.Asn198Ser)
c.932A>G (p.Asn311Ser)
Xg.108581008A>TCA413926926COL4A5c.917A>T (p.Asn306Ile)
c.593A>T (p.Asn198Ile)
c.932A>T (p.Asn311Ile)
Xg.108581009T>ACA413926943COL4A5c.918T>A (p.Asn306Lys)
c.594T>A (p.Asn198Lys)
c.933T>A (p.Asn311Lys)
Xg.108581009T>CCA517991932COL4A5c.918T>C (p.Asn306=)
c.594T>C (p.Asn198=)
c.933T>C (p.Asn311=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108581009T>GCA413926945COL4A5c.918T>G (p.Asn306Lys)
c.594T>G (p.Asn198Lys)
c.933T>G (p.Asn311Lys)
Xg.108581009T=CA2450683196COL4A5c.918T= (p.Asn306=)
c.594T= (p.Asn198=)
c.933T= (p.Asn311=)
Xg.108581010G>ACA413926949COL4A5c.919G>A (p.Gly307Ser)
c.595G>A (p.Gly199Ser)
c.934G>A (p.Gly312Ser)
 ClinVar dbSNP gnomAD v4
Xg.108581010G>CCA413926951COL4A5c.919G>C (p.Gly307Arg)
c.595G>C (p.Gly199Arg)
c.934G>C (p.Gly312Arg)
 ClinVar
Xg.108581010G>TCA413926955COL4A5c.919G>T (p.Gly307Cys)
c.595G>T (p.Gly199Cys)
c.934G>T (p.Gly312Cys)
 gnomAD v4
Xg.108581011G>ACA258356COL4A5c.920G>A (p.Gly307Asp)
c.596G>A (p.Gly199Asp)
c.935G>A (p.Gly312Asp)
 ClinVar dbSNP COSMIC
Xg.108581011G>CCA413926961COL4A5c.920G>C (p.Gly307Ala)
c.596G>C (p.Gly199Ala)
c.935G>C (p.Gly312Ala)
Xg.108581011G=CA2450683197COL4A5c.920G= (p.Gly307=)
c.596G= (p.Gly199=)
c.935G= (p.Gly312=)
Xg.108581011G>TCA413926963COL4A5c.920G>T (p.Gly307Val)
c.596G>T (p.Gly199Val)
c.935G>T (p.Gly312Val)

Number of alleles fetched