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
Xg.108580691G>CCA413926093COL4A5c.844G>C (p.Gly282Arg)
c.520G>C (p.Gly174Arg)
c.859G>C (p.Gly287Arg)
Xg.108580691G=CA2450683078COL4A5c.844G= (p.Gly282=)
c.520G= (p.Gly174=)
c.859G= (p.Gly287=)
Xg.108580691G>TCA413926083COL4A5c.844G>T (p.Gly282Cys)
c.520G>T (p.Gly174Cys)
c.859G>T (p.Gly287Cys)
Xg.108580692dupCA2499226301COL4A5c.845dup (p.Gly283TrpfsTer2)
c.521dup (p.Gly175TrpfsTer2)
c.860dup (p.Gly288TrpfsTer2)
 ClinVar dbSNP
Xg.108580692G>ACA334180653COL4A5c.845G>A (p.Gly282Asp)
c.521G>A (p.Gly174Asp)
c.860G>A (p.Gly287Asp)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580692G>CCA413926105COL4A5c.845G>C (p.Gly282Ala)
c.521G>C (p.Gly174Ala)
c.860G>C (p.Gly287Ala)
 gnomAD v4
Xg.108580692G=CA2450683079COL4A5c.845G= (p.Gly282=)
c.521G= (p.Gly174=)
c.860G= (p.Gly287=)
Xg.108580692G>TCA413926106COL4A5c.845G>T (p.Gly282Val)
c.521G>T (p.Gly174Val)
c.860G>T (p.Gly287Val)
Xg.108580693T>ACA517991888COL4A5c.846T>A (p.Gly282=)
c.522T>A (p.Gly174=)
c.861T>A (p.Gly287=)
Xg.108580693T>CCA517991889COL4A5c.846T>C (p.Gly282=)
c.522T>C (p.Gly174=)
c.861T>C (p.Gly287=)
Xg.108580693T>GCA517991890COL4A5c.846T>G (p.Gly282=)
c.522T>G (p.Gly174=)
c.861T>G (p.Gly287=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580693T=CA2450683080COL4A5c.846T= (p.Gly282=)
c.522T= (p.Gly174=)
c.861T= (p.Gly287=)
Xg.108580694G>ACA413926108COL4A5c.847G>A (p.Gly283Ser)
c.523G>A (p.Gly175Ser)
c.862G>A (p.Gly288Ser)
 dbSNP gnomAD v4
Xg.108580694G>CCA413926110COL4A5c.847G>C (p.Gly283Arg)
c.523G>C (p.Gly175Arg)
c.862G>C (p.Gly288Arg)
Xg.108580694G=CA2450683081COL4A5c.847G= (p.Gly283=)
c.523G= (p.Gly175=)
c.862G= (p.Gly288=)
Xg.108580694G>TCA413926111COL4A5c.847G>T (p.Gly283Cys)
c.523G>T (p.Gly175Cys)
c.862G>T (p.Gly288Cys)
Xg.108580695delCA2573159076COL4A5c.848del (p.Gly283ValfsTer?)
c.524del (p.Gly175ValfsTer?)
c.863del (p.Gly288ValfsTer?)
 ClinVar dbSNP
Xg.108580695G>ACA413926112COL4A5c.848G>A (p.Gly283Asp)
c.524G>A (p.Gly175Asp)
c.863G>A (p.Gly288Asp)
 gnomAD v4
Xg.108580695G>CCA413926116COL4A5c.848G>C (p.Gly283Ala)
c.524G>C (p.Gly175Ala)
c.863G>C (p.Gly288Ala)
Xg.108580695G=CA2450683082COL4A5c.848G= (p.Gly283=)
c.524G= (p.Gly175=)
c.863G= (p.Gly288=)
Xg.108580695G>TCA10488591COL4A5c.848G>T (p.Gly283Val)
c.524G>T (p.Gly175Val)
c.863G>T (p.Gly288Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580696T>ACA517991891COL4A5c.849T>A (p.Gly283=)
c.525T>A (p.Gly175=)
c.864T>A (p.Gly288=)
Xg.108580696T>CCA517991892COL4A5c.849T>C (p.Gly283=)
c.525T>C (p.Gly175=)
c.864T>C (p.Gly288=)
Xg.108580696T>GCA517991893COL4A5c.849T>G (p.Gly283=)
c.525T>G (p.Gly175=)
c.864T>G (p.Gly288=)
 gnomAD v4
Xg.108580697G>ACA413926130COL4A5c.850G>A (p.Glu284Lys)
c.526G>A (p.Glu176Lys)
c.865G>A (p.Glu289Lys)
Xg.108580697G>CCA413926133COL4A5c.850G>C (p.Glu284Gln)
c.526G>C (p.Glu176Gln)
c.865G>C (p.Glu289Gln)
Xg.108580697G>TCA413926138COL4A5c.850G>T (p.Glu284Ter)
c.526G>T (p.Glu176Ter)
c.865G>T (p.Glu289Ter)
Xg.108580698A=CA2450683083COL4A5c.851A= (p.Glu284=)
c.527A= (p.Glu176=)
c.866A= (p.Glu289=)
Xg.108580698A>CCA413926141COL4A5c.851A>C (p.Glu284Ala)
c.527A>C (p.Glu176Ala)
c.866A>C (p.Glu289Ala)
Xg.108580698A>GCA413926144COL4A5c.851A>G (p.Glu284Gly)
c.527A>G (p.Glu176Gly)
c.866A>G (p.Glu289Gly)
Xg.108580698A>TCA413926148COL4A5c.851A>T (p.Glu284Val)
c.527A>T (p.Glu176Val)
c.866A>T (p.Glu289Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580699G>ACA517991894COL4A5c.852G>A (p.Glu284=)
c.528G>A (p.Glu176=)
c.867G>A (p.Glu289=)
Xg.108580699G>CCA413926157COL4A5c.852G>C (p.Glu284Asp)
c.528G>C (p.Glu176Asp)
c.867G>C (p.Glu289Asp)
Xg.108580699G>TCA413926161COL4A5c.852G>T (p.Glu284Asp)
c.528G>T (p.Glu176Asp)
c.867G>T (p.Glu289Asp)
Xg.108580700A>CCA413926163COL4A5c.853A>C (p.Lys285Gln)
c.529A>C (p.Lys177Gln)
c.868A>C (p.Lys290Gln)
Xg.108580700A>GCA413926179COL4A5c.853A>G (p.Lys285Glu)
c.529A>G (p.Lys177Glu)
c.868A>G (p.Lys290Glu)
Xg.108580700A>TCA413926186COL4A5c.853A>T (p.Lys285Ter)
c.529A>T (p.Lys177Ter)
c.868A>T (p.Lys290Ter)
Xg.108580701A>CCA413926190COL4A5c.854A>C (p.Lys285Thr)
c.530A>C (p.Lys177Thr)
c.869A>C (p.Lys290Thr)
Xg.108580701A>GCA413926211COL4A5c.854A>G (p.Lys285Arg)
c.530A>G (p.Lys177Arg)
c.869A>G (p.Lys290Arg)
Xg.108580701A>TCA413926204COL4A5c.854A>T (p.Lys285Ile)
c.530A>T (p.Lys177Ile)
c.869A>T (p.Lys290Ile)
Xg.108580702A>CCA413926216COL4A5c.855A>C (p.Lys285Asn)
c.531A>C (p.Lys177Asn)
c.870A>C (p.Lys290Asn)
Xg.108580702A>GCA517991895COL4A5c.855A>G (p.Lys285=)
c.531A>G (p.Lys177=)
c.870A>G (p.Lys290=)
 gnomAD v4
Xg.108580702A>TCA413926220COL4A5c.855A>T (p.Lys285Asn)
c.531A>T (p.Lys177Asn)
c.870A>T (p.Lys290Asn)
Xg.108580703G>ACA413926221COL4A5c.856G>A (p.Gly286Ser)
c.532G>A (p.Gly178Ser)
c.871G>A (p.Gly291Ser)
Xg.108580703G>CCA413926222COL4A5c.856G>C (p.Gly286Arg)
c.532G>C (p.Gly178Arg)
c.871G>C (p.Gly291Arg)
Xg.108580703G=CA2450683084COL4A5c.856G= (p.Gly286=)
c.532G= (p.Gly178=)
c.871G= (p.Gly291=)
Xg.108580703G>TCA10488592COL4A5c.856G>T (p.Gly286Cys)
c.532G>T (p.Gly178Cys)
c.871G>T (p.Gly291Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108580704G>ACA413926223COL4A5c.857G>A (p.Gly286Asp)
c.533G>A (p.Gly178Asp)
c.872G>A (p.Gly291Asp)
Xg.108580704G>CCA413926228COL4A5c.857G>C (p.Gly286Ala)
c.533G>C (p.Gly178Ala)
c.872G>C (p.Gly291Ala)
 ClinVar
Xg.108580704G>TCA413926231COL4A5c.857G>T (p.Gly286Val)
c.533G>T (p.Gly178Val)
c.872G>T (p.Gly291Val)
Xg.108580705_108580706delCA2573159077COL4A5c.858_859del (p.Lys288GlyfsTer2)
c.534_535del (p.Lys180GlyfsTer2)
c.873_874del (p.Lys293GlyfsTer2)
 ClinVar dbSNP
Xg.108580705T>ACA517991896COL4A5c.858T>A (p.Gly286=)
c.534T>A (p.Gly178=)
c.873T>A (p.Gly291=)
Xg.108580705T>CCA10488593COL4A5c.858T>C (p.Gly286=)
c.534T>C (p.Gly178=)
c.873T>C (p.Gly291=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580705T>GCA517991897COL4A5c.858T>G (p.Gly286=)
c.534T>G (p.Gly178=)
c.873T>G (p.Gly291=)
 ClinVar dbSNP
Xg.108580705T=CA2450683085COL4A5c.858T= (p.Gly286=)
c.534T= (p.Gly178=)
c.873T= (p.Gly291=)
Xg.108580706G>ACA413926238COL4A5c.859G>A (p.Glu287Lys)
c.535G>A (p.Glu179Lys)
c.874G>A (p.Glu292Lys)
 gnomAD v4
Xg.108580706G>CCA413926239COL4A5c.859G>C (p.Glu287Gln)
c.535G>C (p.Glu179Gln)
c.874G>C (p.Glu292Gln)
Xg.108580706G=CA2450683086COL4A5c.859G= (p.Glu287=)
c.535G= (p.Glu179=)
c.874G= (p.Glu292=)
Xg.108580706G>TCA258334COL4A5c.859G>T (p.Glu287Ter)
c.535G>T (p.Glu179Ter)
c.874G>T (p.Glu292Ter)
 dbSNP
Xg.108580707A>CCA413926241COL4A5c.860A>C (p.Glu287Ala)
c.536A>C (p.Glu179Ala)
c.875A>C (p.Glu292Ala)
Xg.108580707A>GCA413926244COL4A5c.860A>G (p.Glu287Gly)
c.536A>G (p.Glu179Gly)
c.875A>G (p.Glu292Gly)
Xg.108580707A>TCA413926245COL4A5c.860A>T (p.Glu287Val)
c.536A>T (p.Glu179Val)
c.875A>T (p.Glu292Val)
Xg.108580708G>ACA10488594COL4A5c.861G>A (p.Glu287=)
c.537G>A (p.Glu179=)
c.876G>A (p.Glu292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580708G>CCA413926247COL4A5c.861G>C (p.Glu287Asp)
c.537G>C (p.Glu179Asp)
c.876G>C (p.Glu292Asp)
 dbSNP
Xg.108580708G=CA2450683088COL4A5c.861G= (p.Glu287=)
c.537G= (p.Glu179=)
c.876G= (p.Glu292=)
Xg.108580708G>TCA413926252COL4A5c.861G>T (p.Glu287Asp)
c.537G>T (p.Glu179Asp)
c.876G>T (p.Glu292Asp)
Xg.108580708_108580709delinsGACA2450683087COL4A5c.861_862delinsGA (p.Glu287=)
c.537_538delinsGA (p.Glu179=)
c.876_877delinsGA (p.Glu292=)
Xg.108580709A=CA2450683089COL4A5c.862A= (p.Lys288=)
c.538A= (p.Lys180=)
c.877A= (p.Lys293=)
Xg.108580709A>CCA413926253COL4A5c.862A>C (p.Lys288Gln)
c.538A>C (p.Lys180Gln)
c.877A>C (p.Lys293Gln)
Xg.108580709A>GCA10488595COL4A5c.862A>G (p.Lys288Glu)
c.538A>G (p.Lys180Glu)
c.877A>G (p.Lys293Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580709A>TCA413926254COL4A5c.862A>T (p.Lys288Ter)
c.538A>T (p.Lys180Ter)
c.877A>T (p.Lys293Ter)
Xg.108580710delCA891843915COL4A5c.863del (p.Lys288ArgfsTer?)
c.539del (p.Lys180ArgfsTer?)
c.878del (p.Lys293ArgfsTer?)
Xg.108580710A>CCA413926256COL4A5c.863A>C (p.Lys288Thr)
c.539A>C (p.Lys180Thr)
c.878A>C (p.Lys293Thr)
Xg.108580710A>GCA413926259COL4A5c.863A>G (p.Lys288Arg)
c.539A>G (p.Lys180Arg)
c.878A>G (p.Lys293Arg)
Xg.108580710A>TCA413926262COL4A5c.863A>T (p.Lys288Met)
c.539A>T (p.Lys180Met)
c.878A>T (p.Lys293Met)
Xg.108580710_108580711delinsAGCA2450683090COL4A5c.863_864delinsAG (p.Lys288=)
c.539_540delinsAG (p.Lys180=)
c.878_879delinsAG (p.Lys293=)
Xg.108580711G>ACA517991898COL4A5c.864G>A (p.Lys288=)
c.540G>A (p.Lys180=)
c.879G>A (p.Lys293=)
 ClinVar dbSNP
Xg.108580711G>CCA413926264COL4A5c.864G>C (p.Lys288Asn)
c.540G>C (p.Lys180Asn)
c.879G>C (p.Lys293Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580711G=CA2450683091COL4A5c.864G= (p.Lys288=)
c.540G= (p.Lys180=)
c.879G= (p.Lys293=)
Xg.108580711G>TCA413926266COL4A5c.864G>T (p.Lys288Asn)
c.540G>T (p.Lys180Asn)
c.879G>T (p.Lys293Asn)
Xg.108580713delCA258339COL4A5c.866del (p.Gly289ValfsTer?)
c.542del (p.Gly181ValfsTer?)
c.881del (p.Gly294ValfsTer?)
 dbSNP
Xg.108580712G>ACA413926272COL4A5c.865G>A (p.Gly289Ser)
c.541G>A (p.Gly181Ser)
c.880G>A (p.Gly294Ser)
 ClinVar dbSNP
Xg.108580712G>CCA413926275COL4A5c.865G>C (p.Gly289Arg)
c.541G>C (p.Gly181Arg)
c.880G>C (p.Gly294Arg)
Xg.108580712G=CA2450683092COL4A5c.865G= (p.Gly289=)
c.541G= (p.Gly181=)
c.880G= (p.Gly294=)
Xg.108580712G>TCA413926285COL4A5c.865G>T (p.Gly289Cys)
c.541G>T (p.Gly181Cys)
c.880G>T (p.Gly294Cys)
Xg.108580713G>ACA413926301COL4A5c.866G>A (p.Gly289Asp)
c.542G>A (p.Gly181Asp)
c.881G>A (p.Gly294Asp)
 ClinVar dbSNP
Xg.108580713G>CCA413926297COL4A5c.866G>C (p.Gly289Ala)
c.542G>C (p.Gly181Ala)
c.881G>C (p.Gly294Ala)
Xg.108580713G=CA2450683093COL4A5c.866G= (p.Gly289=)
c.542G= (p.Gly181=)
c.881G= (p.Gly294=)
Xg.108580713G>TCA258337COL4A5c.866G>T (p.Gly289Val)
c.542G>T (p.Gly181Val)
c.881G>T (p.Gly294Val)
 ClinVar dbSNP
Xg.[108580713G>T;108686096C>T]CA033428COL4A5c.[866G>T;4282C>T] (p.[Gly289Val;Arg1428Cys])
c.[866G>T;4264C>T] (p.[Gly289Val;Arg1422Cys])
c.[866G>T;4273C>T] (p.[Gly289Val;Arg1425Cys])
c.[542G>T;3958C>T] (p.[Gly181Val;Arg1320Cys])
c.[881G>T;4297C>T] (p.[Gly294Val;Arg1433Cys])
c.[881G>T;4288C>T] (p.[Gly294Val;Arg1430Cys])
c.[881G>T;4279C>T] (p.[Gly294Val;Arg1427Cys])
 ClinVar
Xg.108580714T>ACA517991899COL4A5c.867T>A (p.Gly289=)
c.543T>A (p.Gly181=)
c.882T>A (p.Gly294=)
 ClinVar
Xg.108580714T>CCA517991900COL4A5c.867T>C (p.Gly289=)
c.543T>C (p.Gly181=)
c.882T>C (p.Gly294=)
 COSMIC
Xg.108580714T>GCA517991901COL4A5c.867T>G (p.Gly289=)
c.543T>G (p.Gly181=)
c.882T>G (p.Gly294=)
Xg.108580715delCA2695235191COL4A5c.868del (p.Glu290SerfsTer?)
c.544del (p.Glu182SerfsTer?)
c.883del (p.Glu295SerfsTer?)
Xg.108580715G>ACA413926306COL4A5c.868G>A (p.Glu290Lys)
c.544G>A (p.Glu182Lys)
c.883G>A (p.Glu295Lys)
Xg.108580715G>CCA413926308COL4A5c.868G>C (p.Glu290Gln)
c.544G>C (p.Glu182Gln)
c.883G>C (p.Glu295Gln)
Xg.108580715G>TCA413926310COL4A5c.868G>T (p.Glu290Ter)
c.544G>T (p.Glu182Ter)
c.883G>T (p.Glu295Ter)
 ClinVar
Xg.108580716A>CCA413926315COL4A5c.869A>C (p.Glu290Ala)
c.545A>C (p.Glu182Ala)
c.884A>C (p.Glu295Ala)
Xg.108580716A>GCA413926322COL4A5c.869A>G (p.Glu290Gly)
c.545A>G (p.Glu182Gly)
c.884A>G (p.Glu295Gly)
Xg.108580716A>TCA413926326COL4A5c.869A>T (p.Glu290Val)
c.545A>T (p.Glu182Val)
c.884A>T (p.Glu295Val)
Xg.108580717G>ACA517991902COL4A5c.870G>A (p.Glu290=)
c.546G>A (p.Glu182=)
c.885G>A (p.Glu295=)
Xg.108580717G>CCA413926328COL4A5c.870G>C (p.Glu290Asp)
c.546G>C (p.Glu182Asp)
c.885G>C (p.Glu295Asp)
Xg.108580717G>TCA413926329COL4A5c.870G>T (p.Glu290Asp)
c.546G>T (p.Glu182Asp)
c.885G>T (p.Glu295Asp)
Xg.108580718C>ACA413926330COL4A5c.871C>A (p.Gln291Lys)
c.547C>A (p.Gln183Lys)
c.886C>A (p.Gln296Lys)
Xg.108580718C=CA2450683094COL4A5c.871C= (p.Gln291=)
c.547C= (p.Gln183=)
c.886C= (p.Gln296=)
Xg.108580718C>GCA413926331COL4A5c.871C>G (p.Gln291Glu)
c.547C>G (p.Gln183Glu)
c.886C>G (p.Gln296Glu)
 dbSNP
Xg.108580718C>TCA413926335COL4A5c.871C>T (p.Gln291Ter)
c.547C>T (p.Gln183Ter)
c.886C>T (p.Gln296Ter)
Xg.108580718_108580719delinsCACA2450683095COL4A5c.871_872delinsCA (p.Gln291=)
c.547_548delinsCA (p.Gln183=)
c.886_887delinsCA (p.Gln296=)
Xg.108580719A=CA2450683096COL4A5c.872A= (p.Gln291=)
c.548A= (p.Gln183=)
c.887A= (p.Gln296=)
Xg.108580719A>CCA10488596COL4A5c.872A>C (p.Gln291Pro)
c.548A>C (p.Gln183Pro)
c.887A>C (p.Gln296Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580719A>GCA413926350COL4A5c.872A>G (p.Gln291Arg)
c.548A>G (p.Gln183Arg)
c.887A>G (p.Gln296Arg)
Xg.108580719A>TCA413926345COL4A5c.872A>T (p.Gln291Leu)
c.548A>T (p.Gln183Leu)
c.887A>T (p.Gln296Leu)
Xg.108580720delCA258340COL4A5c.873del (p.Gly292GlufsTer?)
c.549del (p.Gly184GlufsTer?)
c.888del (p.Gly297GlufsTer?)
 dbSNP
Xg.108580720A>CCA413926377COL4A5c.873A>C (p.Gln291His)
c.549A>C (p.Gln183His)
c.888A>C (p.Gln296His)
Xg.108580720A>GCA517991903COL4A5c.873A>G (p.Gln291=)
c.549A>G (p.Gln183=)
c.888A>G (p.Gln296=)
 gnomAD v4
Xg.108580720A>TCA413926381COL4A5c.873A>T (p.Gln291His)
c.549A>T (p.Gln183His)
c.888A>T (p.Gln296His)
Xg.108580720_108580721delinsAGCA2450683097COL4A5c.873_874delinsAG (p.Gln291=)
c.549_550delinsAG (p.Gln183=)
c.888_889delinsAG (p.Gln296=)
Xg.108580721G>ACA413926389COL4A5c.874G>A (p.Gly292Arg)
c.550G>A (p.Gly184Arg)
c.889G>A (p.Gly297Arg)
 ClinVar dbSNP
Xg.108580721G>CCA258341COL4A5c.874G>C (p.Gly292Arg)
c.550G>C (p.Gly184Arg)
c.889G>C (p.Gly297Arg)
 ClinVar dbSNP
Xg.108580721G=CA2450683098COL4A5c.874G= (p.Gly292=)
c.550G= (p.Gly184=)
c.889G= (p.Gly297=)
Xg.108580721G>TCA413926398COL4A5c.874G>T (p.Gly292Ter)
c.550G>T (p.Gly184Ter)
c.889G>T (p.Gly297Ter)
Xg.108580722delCA258345COL4A5c.875del (p.Gly292GlufsTer?)
c.551del (p.Gly184GlufsTer?)
c.890del (p.Gly297GlufsTer?)
 ClinVar dbSNP
Xg.108580722G>ACA413926404COL4A5c.875G>A (p.Gly292Glu)
c.551G>A (p.Gly184Glu)
c.890G>A (p.Gly297Glu)
 ClinVar dbSNP
Xg.108580722G>CCA413926408COL4A5c.875G>C (p.Gly292Ala)
c.551G>C (p.Gly184Ala)
c.890G>C (p.Gly297Ala)
Xg.108580722G=CA2450683099COL4A5c.875G= (p.Gly292=)
c.551G= (p.Gly184=)
c.890G= (p.Gly297=)
Xg.108580722G>TCA258343COL4A5c.875G>T (p.Gly292Val)
c.551G>T (p.Gly184Val)
c.890G>T (p.Gly297Val)
 dbSNP
Xg.108580723A=CA2450683100COL4A5c.876A= (p.Gly292=)
c.552A= (p.Gly184=)
c.891A= (p.Gly297=)
Xg.108580723A>CCA517991904COL4A5c.876A>C (p.Gly292=)
c.552A>C (p.Gly184=)
c.891A>C (p.Gly297=)
Xg.108580723A>GCA517991905COL4A5c.876A>G (p.Gly292=)
c.552A>G (p.Gly184=)
c.891A>G (p.Gly297=)
Xg.108580723A>TCA517991906COL4A5c.876A>T (p.Gly292=)
c.552A>T (p.Gly184=)
c.891A>T (p.Gly297=)
Xg.108580724G>ACA413926415COL4A5c.877G>A (p.Glu293Lys)
c.553G>A (p.Glu185Lys)
c.892G>A (p.Glu298Lys)
 gnomAD v4
Xg.108580724G>CCA413926419COL4A5c.877G>C (p.Glu293Gln)
c.553G>C (p.Glu185Gln)
c.892G>C (p.Glu298Gln)
 dbSNP gnomAD v4
Xg.108580724G=CA2450683101COL4A5c.877G= (p.Glu293=)
c.553G= (p.Glu185=)
c.892G= (p.Glu298=)
Xg.108580724G>TCA413926427COL4A5c.877G>T (p.Glu293Ter)
c.553G>T (p.Glu185Ter)
c.892G>T (p.Glu298Ter)
Xg.108580725A>CCA413926432COL4A5c.878A>C (p.Glu293Ala)
c.554A>C (p.Glu185Ala)
c.893A>C (p.Glu298Ala)
Xg.108580725A>GCA413926438COL4A5c.878A>G (p.Glu293Gly)
c.554A>G (p.Glu185Gly)
c.893A>G (p.Glu298Gly)
Xg.108580725A>TCA413926430COL4A5c.878A>T (p.Glu293Val)
c.554A>T (p.Glu185Val)
c.893A>T (p.Glu298Val)
Xg.108580726G>ACA517991907COL4A5c.879G>A (p.Glu293=)
c.555G>A (p.Glu185=)
c.894G>A (p.Glu298=)
Xg.108580726G>CCA413926445COL4A5c.879G>C (p.Glu293Asp)
c.555G>C (p.Glu185Asp)
c.894G>C (p.Glu298Asp)
Xg.108580726G>TCA413926442COL4A5c.879G>T (p.Glu293Asp)
c.555G>T (p.Glu185Asp)
c.894G>T (p.Glu298Asp)
Xg.108580727C>ACA413926466COL4A5c.880C>A (p.Pro294Thr)
c.556C>A (p.Pro186Thr)
c.895C>A (p.Pro299Thr)
Xg.108580727C=CA2450683102COL4A5c.880C= (p.Pro294=)
c.556C= (p.Pro186=)
c.895C= (p.Pro299=)
Xg.108580727C>GCA413926463COL4A5c.880C>G (p.Pro294Ala)
c.556C>G (p.Pro186Ala)
c.895C>G (p.Pro299Ala)
Xg.108580727C>TCA10488597COL4A5c.880C>T (p.Pro294Ser)
c.556C>T (p.Pro186Ser)
c.895C>T (p.Pro299Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580728C>ACA413926468COL4A5c.881C>A (p.Pro294Gln)
c.557C>A (p.Pro186Gln)
c.896C>A (p.Pro299Gln)
Xg.108580728C>GCA413926471COL4A5c.881C>G (p.Pro294Arg)
c.557C>G (p.Pro186Arg)
c.896C>G (p.Pro299Arg)
Xg.108580728C>TCA413926469COL4A5c.881C>T (p.Pro294Leu)
c.557C>T (p.Pro186Leu)
c.896C>T (p.Pro299Leu)
Xg.108580729A>CCA517991908COL4A5c.882A>C (p.Pro294=)
c.558A>C (p.Pro186=)
c.897A>C (p.Pro299=)
Xg.108580729A>GCA517991909COL4A5c.882A>G (p.Pro294=)
c.558A>G (p.Pro186=)
c.897A>G (p.Pro299=)
 ClinVar
Xg.108580729A>TCA517991910COL4A5c.882A>T (p.Pro294=)
c.558A>T (p.Pro186=)
c.897A>T (p.Pro299=)
Xg.108580730G>ACA413926474COL4A5c.883G>A (p.Gly295Ser)
c.559G>A (p.Gly187Ser)
c.898G>A (p.Gly300Ser)
 ClinVar dbSNP
Xg.108580730G>CCA413926477COL4A5c.883G>C (p.Gly295Arg)
c.559G>C (p.Gly187Arg)
c.898G>C (p.Gly300Arg)
Xg.108580730G>TCA413926480COL4A5c.883G>T (p.Gly295Cys)
c.559G>T (p.Gly187Cys)
c.898G>T (p.Gly300Cys)
Xg.108580731G>ACA258346COL4A5c.884G>A (p.Gly295Asp)
c.560G>A (p.Gly187Asp)
c.899G>A (p.Gly300Asp)
 ClinVar dbSNP
Xg.108580731G>CCA413926488COL4A5c.884G>C (p.Gly295Ala)
c.560G>C (p.Gly187Ala)
c.899G>C (p.Gly300Ala)
Xg.108580731G=CA2450683103COL4A5c.884G= (p.Gly295=)
c.560G= (p.Gly187=)
c.899G= (p.Gly300=)
Xg.108580731G>TCA413926493COL4A5c.884G>T (p.Gly295Val)
c.560G>T (p.Gly187Val)
c.899G>T (p.Gly300Val)
Xg.108580732delCA2695235192COL4A5c.885del (p.Arg297GlufsTer?)
c.561del (p.Arg189GlufsTer?)
c.900del (p.Arg302GlufsTer?)
Xg.108580732C>ACA517991911COL4A5c.885C>A (p.Gly295=)
c.561C>A (p.Gly187=)
c.900C>A (p.Gly300=)
 COSMIC COSMIC
Xg.108580732C>GCA517991912COL4A5c.885C>G (p.Gly295=)
c.561C>G (p.Gly187=)
c.900C>G (p.Gly300=)
Xg.108580732C>TCA517991913COL4A5c.885C>T (p.Gly295=)
c.561C>T (p.Gly187=)
c.900C>T (p.Gly300=)
Xg.108580733A>CCA413926496COL4A5c.886A>C (p.Lys296Gln)
c.562A>C (p.Lys188Gln)
c.901A>C (p.Lys301Gln)
Xg.108580733A>GCA413926498COL4A5c.886A>G (p.Lys296Glu)
c.562A>G (p.Lys188Glu)
c.901A>G (p.Lys301Glu)
Xg.108580733A>TCA413926504COL4A5c.886A>T (p.Lys296Ter)
c.562A>T (p.Lys188Ter)
c.901A>T (p.Lys301Ter)
Xg.108580735_108580736delCA2695235193COL4A5c.888_889del (p.Gly298Ter)
c.564_565del (p.Gly190Ter)
c.903_904del (p.Gly303Ter)
Xg.108580734A>CCA413926509COL4A5c.887A>C (p.Lys296Thr)
c.563A>C (p.Lys188Thr)
c.902A>C (p.Lys301Thr)
Xg.108580734A>GCA413926518COL4A5c.887A>G (p.Lys296Arg)
c.563A>G (p.Lys188Arg)
c.902A>G (p.Lys301Arg)
 gnomAD v4
Xg.108580734A>TCA413926522COL4A5c.887A>T (p.Lys296Ile)
c.563A>T (p.Lys188Ile)
c.902A>T (p.Lys301Ile)
Xg.108580735A>CCA413926524COL4A5c.888A>C (p.Lys296Asn)
c.564A>C (p.Lys188Asn)
c.903A>C (p.Lys301Asn)
Xg.108580735A>GCA517991914COL4A5c.888A>G (p.Lys296=)
c.564A>G (p.Lys188=)
c.903A>G (p.Lys301=)
Xg.108580735A>TCA413926527COL4A5c.888A>T (p.Lys296Asn)
c.564A>T (p.Lys188Asn)
c.903A>T (p.Lys301Asn)
Xg.108580735_108580736insGATAGGAGGACA2822895071COL4A5c.888_889insGATAGGAGGA (p.Arg297AspfsTer6)
c.564_565insGATAGGAGGA (p.Arg189AspfsTer6)
c.903_904insGATAGGAGGA (p.Arg302AspfsTer6)
Xg.108580736A>CCA517991915COL4A5c.889A>C (p.Arg297=)
c.565A>C (p.Arg189=)
c.904A>C (p.Arg302=)
 gnomAD v4
Xg.108580736A>GCA413926554COL4A5c.889A>G (p.Arg297Gly)
c.565A>G (p.Arg189Gly)
c.904A>G (p.Arg302Gly)
Xg.108580736A>TCA413926557COL4A5c.889A>T (p.Arg297Ter)
c.565A>T (p.Arg189Ter)
c.904A>T (p.Arg302Ter)
Xg.108580738_108580739delCA2580612293COL4A5c.891_891+1del
c.567_567+1del
c.906_906+1del
 ClinVar
Xg.108580737G>ACA413926559COL4A5c.890G>A (p.Arg297Lys)
c.566G>A (p.Arg189Lys)
c.905G>A (p.Arg302Lys)
Xg.108580737G>CCA413926561COL4A5c.890G>C (p.Arg297Thr)
c.566G>C (p.Arg189Thr)
c.905G>C (p.Arg302Thr)
Xg.108580737G>TCA413926564COL4A5c.890G>T (p.Arg297Ile)
c.566G>T (p.Arg189Ile)
c.905G>T (p.Arg302Ile)
Xg.108580738A=CA2450683104COL4A5c.891A= (p.Arg297=)
c.567A= (p.Arg189=)
c.906A= (p.Arg302=)
Xg.108580738A>CCA413926573COL4A5c.891A>C (p.Arg297Ser)
c.567A>C (p.Arg189Ser)
c.906A>C (p.Arg302Ser)
Xg.108580738A>GCA517991916COL4A5c.891A>G (p.Arg297=)
c.567A>G (p.Arg189=)
c.906A>G (p.Arg302=)
Xg.108580738A>TCA413926575COL4A5c.891A>T (p.Arg297Ser)
c.567A>T (p.Arg189Ser)
c.906A>T (p.Arg302Ser)
 dbSNP gnomAD v4
Xg.108580739G>ACA258348COL4A5c.891+1G>A (n.891+1G>A)
c.567+1G>A (n.567+1G>A)
c.906+1G>A (n.906+1G>A)
 ClinVar dbSNP
Xg.108580739G>CCA413926592COL4A5c.891+1G>C (n.891+1G>C)
c.567+1G>C (n.567+1G>C)
c.906+1G>C (n.906+1G>C)
Xg.108580739G=CA2450683105COL4A5c.891+1G= (n.891+1G=)
c.567+1G= (n.567+1G=)
c.906+1G= (n.906+1G=)
Xg.108580739G>TCA413926601COL4A5c.891+1G>T (n.891+1G>T)
c.567+1G>T (n.567+1G>T)
c.906+1G>T (n.906+1G>T)
 ClinVar dbSNP
Xg.108580740delCA2739273686COL4A5c.891+2del (n.891+2del)
c.567+2del (n.567+2del)
c.906+2del (n.906+2del)
 ClinVar
Xg.108580740T>ACA413926608COL4A5c.891+2T>A (n.891+2T>A)
c.567+2T>A (n.567+2T>A)
c.906+2T>A (n.906+2T>A)
 ClinVar dbSNP
Xg.108580740T>CCA413926606COL4A5c.891+2T>C (n.891+2T>C)
c.567+2T>C (n.567+2T>C)
c.906+2T>C (n.906+2T>C)
Xg.108580740T>GCA413926604COL4A5c.891+2T>G (n.891+2T>G)
c.567+2T>G (n.567+2T>G)
c.906+2T>G (n.906+2T>G)
Xg.108580741A>GCA2579675981COL4A5c.891+3A>G (n.891+3A>G)
c.567+3A>G (n.567+3A>G)
c.906+3A>G (n.906+3A>G)
Xg.108580741_108580742insTTAGGCAACA2822895079COL4A5c.891+3_891+4insTTAGGCAA (n.891+3_891+4insTTAGGCAA)
c.567+3_567+4insTTAGGCAA (n.567+3_567+4insTTAGGCAA)
c.906+3_906+4insTTAGGCAA (n.906+3_906+4insTTAGGCAA)
Xg.108580742A=CA2450683106COL4A5c.891+4A= (n.891+4A=)
c.567+4A= (n.567+4A=)
c.906+4A= (n.906+4A=)
Xg.108580742A>CCA2450683107COL4A5c.891+4A>C (n.891+4A>C)
c.567+4A>C (n.567+4A>C)
c.906+4A>C (n.906+4A>C)
 dbSNP
Xg.108580742A>GCA645608363COL4A5c.891+4A>G (n.891+4A>G)
c.567+4A>G (n.567+4A>G)
c.906+4A>G (n.906+4A>G)
 dbSNP COSMIC COSMIC
Xg.108580743G>ACA2499226302COL4A5c.891+5G>A (n.891+5G>A)
c.567+5G>A (n.567+5G>A)
c.906+5G>A (n.906+5G>A)
 ClinVar dbSNP
Xg.108580744T>CCA2579675982COL4A5c.891+6T>C (n.891+6T>C)
c.567+6T>C (n.567+6T>C)
c.906+6T>C (n.906+6T>C)
Xg.108580746_108580754delCA2499226303COL4A5c.891+8_891+16del (n.891+8_891+16del)
c.567+8_567+16del (n.567+8_567+16del)
c.906+8_906+16del (n.906+8_906+16del)
 ClinVar dbSNP
Xg.108580745G>ACA10488598COL4A5c.891+7G>A (n.891+7G>A)
c.567+7G>A (n.567+7G>A)
c.906+7G>A (n.906+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580745G>CCA2573159078COL4A5c.891+7G>C (n.891+7G>C)
c.567+7G>C (n.567+7G>C)
c.906+7G>C (n.906+7G>C)
 ClinVar dbSNP
Xg.108580745G=CA2450683108COL4A5c.891+7G= (n.891+7G=)
c.567+7G= (n.567+7G=)
c.906+7G= (n.906+7G=)
Xg.108580747T>CCA10488599COL4A5c.891+9T>C (n.891+9T>C)
c.567+9T>C (n.567+9T>C)
c.906+9T>C (n.906+9T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580747T>GCA891843916COL4A5c.891+9T>G (n.891+9T>G)
c.567+9T>G (n.567+9T>G)
c.906+9T>G (n.906+9T>G)
 ClinVar dbSNP
Xg.108580747T=CA2450683109COL4A5c.891+9T= (n.891+9T=)
c.567+9T= (n.567+9T=)
c.906+9T= (n.906+9T=)
Xg.108580750A>GCA2694412738COL4A5c.891+12A>G (n.891+12A>G)
c.567+12A>G (n.567+12A>G)
c.906+12A>G (n.906+12A>G)
 gnomAD v4
Xg.108580751A=CA2450683110COL4A5c.891+13A= (n.891+13A=)
c.567+13A= (n.567+13A=)
c.906+13A= (n.906+13A=)
Xg.108580751A>GCA10488600COL4A5c.891+13A>G (n.891+13A>G)
c.567+13A>G (n.567+13A>G)
c.906+13A>G (n.906+13A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580752C>ACA2694412742COL4A5c.891+14C>A (n.891+14C>A)
c.567+14C>A (n.567+14C>A)
c.906+14C>A (n.906+14C>A)
 gnomAD v4
Xg.108580753T>CCA2694412743COL4A5c.891+15T>C (n.891+15T>C)
c.567+15T>C (n.567+15T>C)
c.906+15T>C (n.906+15T>C)
 gnomAD v4
Xg.108580754G>TCA2694412746COL4A5c.891+16G>T (n.891+16G>T)
c.567+16G>T (n.567+16G>T)
c.906+16G>T (n.906+16G>T)
 gnomAD v4
Xg.108580755C>ACA2579675983COL4A5c.891+17C>A (n.891+17C>A)
c.567+17C>A (n.567+17C>A)
c.906+17C>A (n.906+17C>A)
Xg.108580758A=CA2450683111COL4A5c.891+20A= (n.891+20A=)
c.567+20A= (n.567+20A=)
c.906+20A= (n.906+20A=)
Xg.108580758A>CCA2694412750COL4A5c.891+20A>C (n.891+20A>C)
c.567+20A>C (n.567+20A>C)
c.906+20A>C (n.906+20A>C)
 gnomAD v4
Xg.108580758A>GCA643750290COL4A5c.891+20A>G (n.891+20A>G)
c.567+20A>G (n.567+20A>G)
c.906+20A>G (n.906+20A>G)
 ClinVar dbSNP gnomAD v2
Xg.108580759T>CCA2515620985COL4A5c.891+21T>C (n.891+21T>C)
c.567+21T>C (n.567+21T>C)
c.906+21T>C (n.906+21T>C)
Xg.108580761T>CCA2694412752COL4A5c.891+23T>C (n.891+23T>C)
c.567+23T>C (n.567+23T>C)
c.906+23T>C (n.906+23T>C)
 gnomAD v4
Xg.108580763C>ACA2694412753COL4A5c.891+25C>A (n.891+25C>A)
c.567+25C>A (n.567+25C>A)
c.906+25C>A (n.906+25C>A)
 gnomAD v4
Xg.108580764T>CCA2694412756COL4A5c.891+26T>C (n.891+26T>C)
c.567+26T>C (n.567+26T>C)
c.906+26T>C (n.906+26T>C)
 gnomAD v4
Xg.108580766T>CCA2579675984COL4A5c.891+28T>C (n.891+28T>C)
c.567+28T>C (n.567+28T>C)
c.906+28T>C (n.906+28T>C)
 gnomAD v4
Xg.108580767G>ACA2694412761COL4A5c.891+29G>A (n.891+29G>A)
c.567+29G>A (n.567+29G>A)
c.906+29G>A (n.906+29G>A)
 gnomAD v4
Xg.108580767G>TCA2522834211COL4A5c.891+29G>T (n.891+29G>T)
c.567+29G>T (n.567+29G>T)
c.906+29G>T (n.906+29G>T)
Xg.108580768C>ACA2694412763COL4A5c.891+30C>A (n.891+30C>A)
c.567+30C>A (n.567+30C>A)
c.906+30C>A (n.906+30C>A)
 gnomAD v4
Xg.108580775dupCA2694412766COL4A5c.891+37dup (n.891+37dup)
c.567+37dup (n.567+37dup)
c.906+37dup (n.906+37dup)
 gnomAD v4
Xg.108580775delCA2694412768COL4A5c.891+37del (n.891+37del)
c.567+37del (n.567+37del)
c.906+37del (n.906+37del)
 gnomAD v4
Xg.108580770A>GCA2694412769COL4A5c.891+32A>G (n.891+32A>G)
c.567+32A>G (n.567+32A>G)
c.906+32A>G (n.906+32A>G)
 gnomAD v4
Xg.108580771A>GCA2694412770COL4A5c.891+33A>G (n.891+33A>G)
c.567+33A>G (n.567+33A>G)
c.906+33A>G (n.906+33A>G)
 gnomAD v4
Xg.108580772A=CA2450683112COL4A5c.891+34A= (n.891+34A=)
c.567+34A= (n.567+34A=)
c.906+34A= (n.906+34A=)
Xg.108580772A>GCA2450683113COL4A5c.891+34A>G (n.891+34A>G)
c.567+34A>G (n.567+34A>G)
c.906+34A>G (n.906+34A>G)
 dbSNP
Xg.108580773A=CA2450683114COL4A5c.891+35A= (n.891+35A=)
c.567+35A= (n.567+35A=)
c.906+35A= (n.906+35A=)
Xg.108580773A>GCA10488601COL4A5c.891+35A>G (n.891+35A>G)
c.567+35A>G (n.567+35A>G)
c.906+35A>G (n.906+35A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched