Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108580621T>ACA2694412608COL4A5c.834+35T>A (n.834+35T>A)
c.510+35T>A (n.510+35T>A)
c.849+35T>A (n.849+35T>A)
 gnomAD v4
Xg.108580626T>CCA643750285COL4A5c.834+40T>C (n.834+40T>C)
c.510+40T>C (n.510+40T>C)
c.849+40T>C (n.849+40T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580626T=CA2450683051COL4A5c.834+40T= (n.834+40T=)
c.510+40T= (n.510+40T=)
c.849+40T= (n.849+40T=)
Xg.108580627G>TCA2579675977COL4A5c.834+41G>T (n.834+41G>T)
c.510+41G>T (n.510+41G>T)
c.849+41G>T (n.849+41G>T)
Xg.108580628G>ACA10488582COL4A5c.834+42G>A (n.834+42G>A)
c.510+42G>A (n.510+42G>A)
c.849+42G>A (n.849+42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580628G=CA2450683052COL4A5c.834+42G= (n.834+42G=)
c.510+42G= (n.510+42G=)
c.849+42G= (n.849+42G=)
Xg.108580628G>TCA2822895053COL4A5c.834+42G>T (n.834+42G>T)
c.510+42G>T (n.510+42G>T)
c.849+42G>T (n.849+42G>T)
Xg.108580629T>CCA643750286COL4A5c.834+43T>C (n.834+43T>C)
c.510+43T>C (n.510+43T>C)
c.849+43T>C (n.849+43T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580629T=CA2450683053COL4A5c.834+43T= (n.834+43T=)
c.510+43T= (n.510+43T=)
c.849+43T= (n.849+43T=)
Xg.108580630A=CA2450683054COL4A5c.834+44A= (n.834+44A=)
c.510+44A= (n.510+44A=)
c.849+44A= (n.849+44A=)
Xg.108580630A>GCA1136179764COL4A5c.834+44A>G (n.834+44A>G)
c.510+44A>G (n.510+44A>G)
c.849+44A>G (n.849+44A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580632T>CCA2694412610COL4A5c.834+46T>C (n.834+46T>C)
c.510+46T>C (n.510+46T>C)
c.849+46T>C (n.849+46T>C)
 gnomAD v4
Xg.108580632T>GCA2822895055COL4A5c.834+46T>G (n.834+46T>G)
c.510+46T>G (n.510+46T>G)
c.849+46T>G (n.849+46T>G)
Xg.108580633G=CA2450683055COL4A5c.834+47G= (n.834+47G=)
c.510+47G= (n.510+47G=)
c.849+47G= (n.849+47G=)
Xg.108580633G>TCA334180640COL4A5c.834+47G>T (n.834+47G>T)
c.510+47G>T (n.510+47G>T)
c.849+47G>T (n.849+47G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580634G>TCA2694412611COL4A5c.835-48G>T (n.835-48G>T)
c.511-48G>T (n.511-48G>T)
c.850-48G>T (n.850-48G>T)
 gnomAD v4
Xg.108580635T>CCA10488583COL4A5c.835-47T>C (n.835-47T>C)
c.511-47T>C (n.511-47T>C)
c.850-47T>C (n.850-47T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580635T=CA2450683056COL4A5c.835-47T= (n.835-47T=)
c.511-47T= (n.511-47T=)
c.850-47T= (n.850-47T=)
Xg.108580636A=CA2450683057COL4A5c.835-46A= (n.835-46A=)
c.511-46A= (n.511-46A=)
c.850-46A= (n.850-46A=)
Xg.108580636A>GCA10488584COL4A5c.835-46A>G (n.835-46A>G)
c.511-46A>G (n.511-46A>G)
c.850-46A>G (n.850-46A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580637C>TCA2694412616COL4A5c.835-45C>T (n.835-45C>T)
c.511-45C>T (n.511-45C>T)
c.850-45C>T (n.850-45C>T)
 gnomAD v4
Xg.108580638A>TCA2694412618COL4A5c.835-44A>T (n.835-44A>T)
c.511-44A>T (n.511-44A>T)
c.850-44A>T (n.850-44A>T)
 gnomAD v4
Xg.108580639C>ACA2694412619COL4A5c.835-43C>A (n.835-43C>A)
c.511-43C>A (n.511-43C>A)
c.850-43C>A (n.850-43C>A)
 gnomAD v4
Xg.108580640A>GCA2579675978COL4A5c.835-42A>G (n.835-42A>G)
c.511-42A>G (n.511-42A>G)
c.850-42A>G (n.850-42A>G)
Xg.108580641G>ACA2579675979COL4A5c.835-41G>A (n.835-41G>A)
c.511-41G>A (n.511-41G>A)
c.850-41G>A (n.850-41G>A)
Xg.108580646C=CA2450683058COL4A5c.835-36C= (n.835-36C=)
c.511-36C= (n.511-36C=)
c.850-36C= (n.850-36C=)
Xg.108580646C>TCA334180644COL4A5c.835-36C>T (n.835-36C>T)
c.511-36C>T (n.511-36C>T)
c.850-36C>T (n.850-36C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580648A>GCA2579675980COL4A5c.835-34A>G (n.835-34A>G)
c.511-34A>G (n.511-34A>G)
c.850-34A>G (n.850-34A>G)
 gnomAD v4
Xg.108580650G>CCA2450683060COL4A5c.835-32G>C (n.835-32G>C)
c.511-32G>C (n.511-32G>C)
c.850-32G>C (n.850-32G>C)
 dbSNP
Xg.108580650G=CA2450683059COL4A5c.835-32G= (n.835-32G=)
c.511-32G= (n.511-32G=)
c.850-32G= (n.850-32G=)
Xg.108580651A>TCA2822895057COL4A5c.835-31A>T (n.835-31A>T)
c.511-31A>T (n.511-31A>T)
c.850-31A>T (n.850-31A>T)
Xg.108580652A>GCA2694412624COL4A5c.835-30A>G (n.835-30A>G)
c.511-30A>G (n.511-30A>G)
c.850-30A>G (n.850-30A>G)
 gnomAD v4
Xg.108580653C=CA2450683061COL4A5c.835-29C= (n.835-29C=)
c.511-29C= (n.511-29C=)
c.850-29C= (n.850-29C=)
Xg.108580653C>TCA2450683062COL4A5c.835-29C>T (n.835-29C>T)
c.511-29C>T (n.511-29C>T)
c.850-29C>T (n.850-29C>T)
 dbSNP
Xg.108580654C=CA2450683063COL4A5c.835-28C= (n.835-28C=)
c.511-28C= (n.511-28C=)
c.850-28C= (n.850-28C=)
Xg.108580654C>GCA10488585COL4A5c.835-28C>G (n.835-28C>G)
c.511-28C>G (n.511-28C>G)
c.850-28C>G (n.850-28C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580655A=CA2450683064COL4A5c.835-27A= (n.835-27A=)
c.511-27A= (n.511-27A=)
c.850-27A= (n.850-27A=)
Xg.108580655A>GCA10488586COL4A5c.835-27A>G (n.835-27A>G)
c.511-27A>G (n.511-27A>G)
c.850-27A>G (n.850-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580656T>CCA643750287COL4A5c.835-26T>C (n.835-26T>C)
c.511-26T>C (n.511-26T>C)
c.850-26T>C (n.850-26T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580656T=CA2450683065COL4A5c.835-26T= (n.835-26T=)
c.511-26T= (n.511-26T=)
c.850-26T= (n.850-26T=)
Xg.108580658G>ACA643750288COL4A5c.835-24G>A (n.835-24G>A)
c.511-24G>A (n.511-24G>A)
c.850-24G>A (n.850-24G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580658G=CA2450683066COL4A5c.835-24G= (n.835-24G=)
c.511-24G= (n.511-24G=)
c.850-24G= (n.850-24G=)
Xg.108580660G>ACA2694412633COL4A5c.835-22G>A (n.835-22G>A)
c.511-22G>A (n.511-22G>A)
c.850-22G>A (n.850-22G>A)
 gnomAD v4
Xg.108580663A>CCA2694412634COL4A5c.835-19A>C (n.835-19A>C)
c.511-19A>C (n.511-19A>C)
c.850-19A>C (n.850-19A>C)
 gnomAD v4
Xg.108580664C>ACA2450683068COL4A5c.835-18C>A (n.835-18C>A)
c.511-18C>A (n.511-18C>A)
c.850-18C>A (n.850-18C>A)
 dbSNP
Xg.108580664C=CA2450683067COL4A5c.835-18C= (n.835-18C=)
c.511-18C= (n.511-18C=)
c.850-18C= (n.850-18C=)
Xg.108580664C>TCA10488587COL4A5c.835-18C>T (n.835-18C>T)
c.511-18C>T (n.511-18C>T)
c.850-18C>T (n.850-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580668T>CCA10488588COL4A5c.835-14T>C (n.835-14T>C)
c.511-14T>C (n.511-14T>C)
c.850-14T>C (n.850-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580668T=CA2450683069COL4A5c.835-14T= (n.835-14T=)
c.511-14T= (n.511-14T=)
c.850-14T= (n.850-14T=)
Xg.108580671T>CCA643750289COL4A5c.835-11T>C (n.835-11T>C)
c.511-11T>C (n.511-11T>C)
c.850-11T>C (n.850-11T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580671T=CA2450683070COL4A5c.835-11T= (n.835-11T=)
c.511-11T= (n.511-11T=)
c.850-11T= (n.850-11T=)
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)
 ClinVar 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])
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

Number of alleles fetched