Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108580673T>ACA2580100193COL4A5c.835-9T>A (n.835-9T>A)
c.511-9T>A (n.511-9T>A)
c.850-9T>A (n.850-9T>A)
 ClinVar
Xg.108580673T>CCA869793948COL4A5c.835-9T>C (n.835-9T>C)
c.511-9T>C (n.511-9T>C)
c.850-9T>C (n.850-9T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580673T=CA2450683071COL4A5c.835-9T= (n.835-9T=)
c.511-9T= (n.511-9T=)
c.850-9T= (n.850-9T=)
Xg.108580674G>ACA2572274155COL4A5c.835-8G>A (n.835-8G>A)
c.511-8G>A (n.511-8G>A)
c.850-8G>A (n.850-8G>A)
Xg.108580674G>TCA2580100194COL4A5c.835-8G>T (n.835-8G>T)
c.511-8G>T (n.511-8G>T)
c.850-8G>T (n.850-8G>T)
 ClinVar
Xg.108580675T>CCA2450683073COL4A5c.835-7T>C (n.835-7T>C)
c.511-7T>C (n.511-7T>C)
c.850-7T>C (n.850-7T>C)
 dbSNP
Xg.108580675T>GCA2694412640COL4A5c.835-7T>G (n.835-7T>G)
c.511-7T>G (n.511-7T>G)
c.850-7T>G (n.850-7T>G)
 gnomAD v4
Xg.108580675T=CA2450683072COL4A5c.835-7T= (n.835-7T=)
c.511-7T= (n.511-7T=)
c.850-7T= (n.850-7T=)
Xg.108580676G>TCA2694412642COL4A5c.835-6G>T (n.835-6G>T)
c.511-6G>T (n.511-6G>T)
c.850-6G>T (n.850-6G>T)
 gnomAD v4
Xg.108580677T>GCA2739273685COL4A5c.835-5T>G (n.835-5T>G)
c.511-5T>G (n.511-5T>G)
c.850-5T>G (n.850-5T>G)
 ClinVar
Xg.108580678A=CA2450683074COL4A5c.835-4A= (n.835-4A=)
c.511-4A= (n.511-4A=)
c.850-4A= (n.850-4A=)
Xg.108580678A>GCA869793951COL4A5c.835-4A>G (n.835-4A>G)
c.511-4A>G (n.511-4A>G)
c.850-4A>G (n.850-4A>G)
 dbSNP gnomAD v4
Xg.108580679C>TCA2694412645COL4A5c.835-3C>T (n.835-3C>T)
c.511-3C>T (n.511-3C>T)
c.850-3C>T (n.850-3C>T)
 gnomAD v4
Xg.108580680A=CA2450683075COL4A5c.835-2A= (n.835-2A=)
c.511-2A= (n.511-2A=)
c.850-2A= (n.850-2A=)
Xg.108580680A>CCA413925972COL4A5c.835-2A>C (n.835-2A>C)
c.511-2A>C (n.511-2A>C)
c.850-2A>C (n.850-2A>C)
Xg.108580680A>GCA413925978COL4A5c.835-2A>G (n.835-2A>G)
c.511-2A>G (n.511-2A>G)
c.850-2A>G (n.850-2A>G)
 ClinVar dbSNP
Xg.108580680A>TCA413925975COL4A5c.835-2A>T (n.835-2A>T)
c.511-2A>T (n.511-2A>T)
c.850-2A>T (n.850-2A>T)
Xg.108580681G>ACA413925981COL4A5c.835-1G>A (n.835-1G>A)
c.511-1G>A (n.511-1G>A)
c.850-1G>A (n.850-1G>A)
Xg.108580681G>CCA413925985COL4A5c.835-1G>C (n.835-1G>C)
c.511-1G>C (n.511-1G>C)
c.850-1G>C (n.850-1G>C)
 ClinVar
Xg.108580681G>TCA413925995COL4A5c.835-1G>T (n.835-1G>T)
c.511-1G>T (n.511-1G>T)
c.850-1G>T (n.850-1G>T)
Xg.108580682G>ACA413925999COL4A5c.835G>A (p.Gly279Ser)
c.511G>A (p.Gly171Ser)
c.850G>A (p.Gly284Ser)
 gnomAD v4
Xg.108580682G>CCA10488589COL4A5c.835G>C (p.Gly279Arg)
c.511G>C (p.Gly171Arg)
c.850G>C (p.Gly284Arg)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108580682G=CA2450683076COL4A5c.835G= (p.Gly279=)
c.511G= (p.Gly171=)
c.850G= (p.Gly284=)
Xg.108580682G>TCA413926010COL4A5c.835G>T (p.Gly279Cys)
c.511G>T (p.Gly171Cys)
c.850G>T (p.Gly284Cys)
 COSMIC COSMIC
Xg.108580683G>ACA413926014COL4A5c.836G>A (p.Gly279Asp)
c.512G>A (p.Gly171Asp)
c.851G>A (p.Gly284Asp)
Xg.108580683G>CCA10488590COL4A5c.836G>C (p.Gly279Ala)
c.512G>C (p.Gly171Ala)
c.851G>C (p.Gly284Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580683G=CA2450683077COL4A5c.836G= (p.Gly279=)
c.512G= (p.Gly171=)
c.851G= (p.Gly284=)
Xg.108580683G>TCA413926020COL4A5c.836G>T (p.Gly279Val)
c.512G>T (p.Gly171Val)
c.851G>T (p.Gly284Val)
 dbSNP
Xg.108580684T>ACA517991881COL4A5c.837T>A (p.Gly279=)
c.513T>A (p.Gly171=)
c.852T>A (p.Gly284=)
Xg.108580684T>CCA517991880COL4A5c.837T>C (p.Gly279=)
c.513T>C (p.Gly171=)
c.852T>C (p.Gly284=)
Xg.108580684T>GCA517991879COL4A5c.837T>G (p.Gly279=)
c.513T>G (p.Gly171=)
c.852T>G (p.Gly284=)
Xg.108580685C>ACA413926023COL4A5c.838C>A (p.Pro280Thr)
c.514C>A (p.Pro172Thr)
c.853C>A (p.Pro285Thr)
Xg.108580685C>GCA413926032COL4A5c.838C>G (p.Pro280Ala)
c.514C>G (p.Pro172Ala)
c.853C>G (p.Pro285Ala)
 gnomAD v4
Xg.108580685C>TCA413926034COL4A5c.838C>T (p.Pro280Ser)
c.514C>T (p.Pro172Ser)
c.853C>T (p.Pro285Ser)
Xg.108580686C>ACA413926039COL4A5c.839C>A (p.Pro280His)
c.515C>A (p.Pro172His)
c.854C>A (p.Pro285His)
 gnomAD v4
Xg.108580686C>GCA413926036COL4A5c.839C>G (p.Pro280Arg)
c.515C>G (p.Pro172Arg)
c.854C>G (p.Pro285Arg)
Xg.108580686C>TCA413926037COL4A5c.839C>T (p.Pro280Leu)
c.515C>T (p.Pro172Leu)
c.854C>T (p.Pro285Leu)
Xg.108580687C>ACA517991882COL4A5c.840C>A (p.Pro280=)
c.516C>A (p.Pro172=)
c.855C>A (p.Pro285=)
Xg.108580687C>GCA517991883COL4A5c.840C>G (p.Pro280=)
c.516C>G (p.Pro172=)
c.855C>G (p.Pro285=)
Xg.108580687C>TCA517991884COL4A5c.840C>T (p.Pro280=)
c.516C>T (p.Pro172=)
c.855C>T (p.Pro285=)
 ClinVar
Xg.108580688C>ACA413926050COL4A5c.841C>A (p.Pro281Thr)
c.517C>A (p.Pro173Thr)
c.856C>A (p.Pro286Thr)
Xg.108580688C>GCA413926059COL4A5c.841C>G (p.Pro281Ala)
c.517C>G (p.Pro173Ala)
c.856C>G (p.Pro286Ala)
Xg.108580688C>TCA413926063COL4A5c.841C>T (p.Pro281Ser)
c.517C>T (p.Pro173Ser)
c.856C>T (p.Pro286Ser)
 gnomAD v4
Xg.108580689C>ACA413926072COL4A5c.842C>A (p.Pro281Gln)
c.518C>A (p.Pro173Gln)
c.857C>A (p.Pro286Gln)
Xg.108580689C>GCA413926077COL4A5c.842C>G (p.Pro281Arg)
c.518C>G (p.Pro173Arg)
c.857C>G (p.Pro286Arg)
Xg.108580689C>TCA413926081COL4A5c.842C>T (p.Pro281Leu)
c.518C>T (p.Pro173Leu)
c.857C>T (p.Pro286Leu)
Xg.108580690A>CCA517991885COL4A5c.843A>C (p.Pro281=)
c.519A>C (p.Pro173=)
c.858A>C (p.Pro286=)
Xg.108580690A>GCA517991886COL4A5c.843A>G (p.Pro281=)
c.519A>G (p.Pro173=)
c.858A>G (p.Pro286=)
Xg.108580690A>TCA517991887COL4A5c.843A>T (p.Pro281=)
c.519A>T (p.Pro173=)
c.858A>T (p.Pro286=)
Xg.108580691G>ACA413926101COL4A5c.844G>A (p.Gly282Ser)
c.520G>A (p.Gly174Ser)
c.859G>A (p.Gly287Ser)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched