Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108573571delCA2579675875COL4A5c.466-3del (n.466-3del)
c.142-3del (n.142-3del)
c.481-3del (n.481-3del)
 gnomAD v4
Xg.108573571T>ACA2694411162COL4A5c.466-3T>A (n.466-3T>A)
c.142-3T>A (n.142-3T>A)
c.481-3T>A (n.481-3T>A)
 gnomAD v4
Xg.108573571T>CCA2694411163COL4A5c.466-3T>C (n.466-3T>C)
c.142-3T>C (n.142-3T>C)
c.481-3T>C (n.481-3T>C)
 gnomAD v4
Xg.108573572A=CA2450680712COL4A5c.466-2A= (n.466-2A=)
c.142-2A= (n.142-2A=)
c.481-2A= (n.481-2A=)
Xg.108573572A>CCA413920681COL4A5c.466-2A>C (n.466-2A>C)
c.142-2A>C (n.142-2A>C)
c.481-2A>C (n.481-2A>C)
Xg.108573572A>GCA258254COL4A5c.466-2A>G (n.466-2A>G)
c.142-2A>G (n.142-2A>G)
c.481-2A>G (n.481-2A>G)
 dbSNP gnomAD v4
Xg.108573572A>TCA413920685COL4A5c.466-2A>T (n.466-2A>T)
c.142-2A>T (n.142-2A>T)
c.481-2A>T (n.481-2A>T)
Xg.108573573G>ACA413920692COL4A5c.466-1G>A (n.466-1G>A)
c.142-1G>A (n.142-1G>A)
c.481-1G>A (n.481-1G>A)
Xg.108573573G>CCA413920693COL4A5c.466-1G>C (n.466-1G>C)
c.142-1G>C (n.142-1G>C)
c.481-1G>C (n.481-1G>C)
 ClinVar dbSNP
Xg.108573573G>TCA413920689COL4A5c.466-1G>T (n.466-1G>T)
c.142-1G>T (n.142-1G>T)
c.481-1G>T (n.481-1G>T)
Xg.108573574G>ACA413920699COL4A5c.466G>A (p.Gly156Ser)
c.142G>A (p.Gly48Ser)
c.481G>A (p.Gly161Ser)
Xg.108573574G>CCA413920697COL4A5c.466G>C (p.Gly156Arg)
c.142G>C (p.Gly48Arg)
c.481G>C (p.Gly161Arg)
 ClinVar dbSNP
Xg.108573574G>TCA413920702COL4A5c.466G>T (p.Gly156Cys)
c.142G>T (p.Gly48Cys)
c.481G>T (p.Gly161Cys)
Xg.108573575G>ACA413920705COL4A5c.467G>A (p.Gly156Asp)
c.143G>A (p.Gly48Asp)
c.482G>A (p.Gly161Asp)
 ClinVar COSMIC
Xg.108573575G>CCA413920711COL4A5c.467G>C (p.Gly156Ala)
c.143G>C (p.Gly48Ala)
c.482G>C (p.Gly161Ala)
Xg.108573575G=CA2450680713COL4A5c.467G= (p.Gly156=)
c.143G= (p.Gly48=)
c.482G= (p.Gly161=)
Xg.108573575G>TCA413920707COL4A5c.467G>T (p.Gly156Val)
c.143G>T (p.Gly48Val)
c.482G>T (p.Gly161Val)
 ClinVar dbSNP
Xg.108573576T>ACA517991591COL4A5c.468T>A (p.Gly156=)
c.144T>A (p.Gly48=)
c.483T>A (p.Gly161=)
Xg.108573576T>CCA517991592COL4A5c.468T>C (p.Gly156=)
c.144T>C (p.Gly48=)
c.483T>C (p.Gly161=)
Xg.108573576T>GCA517991593COL4A5c.468T>G (p.Gly156=)
c.144T>G (p.Gly48=)
c.483T>G (p.Gly161=)
Xg.108573577G>ACA413920714COL4A5c.469G>A (p.Glu157Lys)
c.145G>A (p.Glu49Lys)
c.484G>A (p.Glu162Lys)
 gnomAD v4
Xg.108573577G>CCA413920716COL4A5c.469G>C (p.Glu157Gln)
c.145G>C (p.Glu49Gln)
c.484G>C (p.Glu162Gln)
Xg.108573577G>TCA413920718COL4A5c.469G>T (p.Glu157Ter)
c.145G>T (p.Glu49Ter)
c.484G>T (p.Glu162Ter)
 ClinVar
Xg.108573578A>CCA413920723COL4A5c.470A>C (p.Glu157Ala)
c.146A>C (p.Glu49Ala)
c.485A>C (p.Glu162Ala)
Xg.108573578A>GCA413920725COL4A5c.470A>G (p.Glu157Gly)
c.146A>G (p.Glu49Gly)
c.485A>G (p.Glu162Gly)
Xg.108573578A>TCA413920728COL4A5c.470A>T (p.Glu157Val)
c.146A>T (p.Glu49Val)
c.485A>T (p.Glu162Val)
Xg.108573579A>CCA413920731COL4A5c.471A>C (p.Glu157Asp)
c.147A>C (p.Glu49Asp)
c.486A>C (p.Glu162Asp)
Xg.108573579A>GCA517991594COL4A5c.471A>G (p.Glu157=)
c.147A>G (p.Glu49=)
c.486A>G (p.Glu162=)
Xg.108573579A>TCA413920732COL4A5c.471A>T (p.Glu157Asp)
c.147A>T (p.Glu49Asp)
c.486A>T (p.Glu162Asp)
Xg.108573580C>ACA413920735COL4A5c.472C>A (p.Pro158Thr)
c.148C>A (p.Pro50Thr)
c.487C>A (p.Pro163Thr)
 gnomAD v4
Xg.108573580C>GCA413920738COL4A5c.472C>G (p.Pro158Ala)
c.148C>G (p.Pro50Ala)
c.487C>G (p.Pro163Ala)
Xg.108573580C>TCA413920740COL4A5c.472C>T (p.Pro158Ser)
c.148C>T (p.Pro50Ser)
c.487C>T (p.Pro163Ser)
Xg.108573581C>ACA413920748COL4A5c.473C>A (p.Pro158Gln)
c.149C>A (p.Pro50Gln)
c.488C>A (p.Pro163Gln)
Xg.108573581C>GCA413920743COL4A5c.473C>G (p.Pro158Arg)
c.149C>G (p.Pro50Arg)
c.488C>G (p.Pro163Arg)
 gnomAD v4
Xg.108573581C>TCA413920744COL4A5c.473C>T (p.Pro158Leu)
c.149C>T (p.Pro50Leu)
c.488C>T (p.Pro163Leu)
Xg.108573582A>CCA517991595COL4A5c.474A>C (p.Pro158=)
c.150A>C (p.Pro50=)
c.489A>C (p.Pro163=)
Xg.108573582A>GCA517991596COL4A5c.474A>G (p.Pro158=)
c.150A>G (p.Pro50=)
c.489A>G (p.Pro163=)
 gnomAD v4
Xg.108573582A>TCA517991597COL4A5c.474A>T (p.Pro158=)
c.150A>T (p.Pro50=)
c.489A>T (p.Pro163=)
Xg.108573582_108573583delinsAGCA2450680714COL4A5c.474_475delinsAG (p.Pro158=)
c.150_151delinsAG (p.Pro50=)
c.489_490delinsAG (p.Pro163=)
Xg.108573583G>ACA413920752COL4A5c.475G>A (p.Gly159Ser)
c.151G>A (p.Gly51Ser)
c.490G>A (p.Gly164Ser)
 gnomAD v4
Xg.108573583G>CCA413920754COL4A5c.475G>C (p.Gly159Arg)
c.151G>C (p.Gly51Arg)
c.490G>C (p.Gly164Arg)
Xg.108573583G>TCA413920756COL4A5c.475G>T (p.Gly159Cys)
c.151G>T (p.Gly51Cys)
c.490G>T (p.Gly164Cys)
Xg.108573584delCA261042COL4A5c.476del (p.Gly159ValfsTer3)
c.152del (p.Gly51ValfsTer3)
c.491del (p.Gly164ValfsTer3)
 dbSNP
Xg.108573583_108573585delinsGGTCA2450680715COL4A5c.475_477delinsGGT (p.Gly159=)
c.151_153delinsGGT (p.Gly51=)
c.490_492delinsGGT (p.Gly164=)
Xg.108573584G>ACA413920761COL4A5c.476G>A (p.Gly159Asp)
c.152G>A (p.Gly51Asp)
c.491G>A (p.Gly164Asp)
 ClinVar dbSNP
Xg.108573584G>CCA413920763COL4A5c.476G>C (p.Gly159Ala)
c.152G>C (p.Gly51Ala)
c.491G>C (p.Gly164Ala)
Xg.108573584G>TCA413920766COL4A5c.476G>T (p.Gly159Val)
c.152G>T (p.Gly51Val)
c.491G>T (p.Gly164Val)
 ClinVar
Xg.108573584_108573585delCA2450680716COL4A5c.476_477del (p.Gly159GlufsTer13)
c.152_153del (p.Gly51GlufsTer13)
c.491_492del (p.Gly164GlufsTer13)
 dbSNP
Xg.108573585T>ACA517991599COL4A5c.477T>A (p.Gly159=)
c.153T>A (p.Gly51=)
c.492T>A (p.Gly164=)
Xg.108573585T>CCA517991598COL4A5c.477T>C (p.Gly159=)
c.153T>C (p.Gly51=)
c.492T>C (p.Gly164=)

Number of alleles fetched