Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108575927_108575961delCA2580100156COL4A5c.564_598del (p.Gly189ArgfsTer15)
c.240_274del (p.Gly81ArgfsTer15)
c.579_613del (p.Gly194ArgfsTer15)
 ClinVar
Xg.108575953delCA891843911COL4A5c.590del (p.Pro197GlnfsTer6)
c.266del (p.Pro89GlnfsTer6)
c.605del (p.Pro202GlnfsTer6)
 gnomAD v4
Xg.108575951C>ACA517991693COL4A5c.588C>A (p.Pro196=)
c.264C>A (p.Pro88=)
c.603C>A (p.Pro201=)
 gnomAD v4
Xg.108575951C>GCA517991694COL4A5c.588C>G (p.Pro196=)
c.264C>G (p.Pro88=)
c.603C>G (p.Pro201=)
 gnomAD v4
Xg.108575951C>TCA517991695COL4A5c.588C>T (p.Pro196=)
c.264C>T (p.Pro88=)
c.603C>T (p.Pro201=)
 gnomAD v4
Xg.108575951_108575954delCA2694411599COL4A5c.588_591del (p.Pro197AspfsTer5)
c.264_267del (p.Pro89AspfsTer5)
c.603_606del (p.Pro202AspfsTer5)
 gnomAD v4
Xg.108575952C>ACA413922342COL4A5c.589C>A (p.Pro197Thr)
c.265C>A (p.Pro89Thr)
c.604C>A (p.Pro202Thr)
 gnomAD v4
Xg.108575952C=CA2450681496COL4A5c.589C= (p.Pro197=)
c.265C= (p.Pro89=)
c.604C= (p.Pro202=)
Xg.108575952C>GCA413922343COL4A5c.589C>G (p.Pro197Ala)
c.265C>G (p.Pro89Ala)
c.604C>G (p.Pro202Ala)
Xg.108575952C>TCA10488512COL4A5c.589C>T (p.Pro197Ser)
c.265C>T (p.Pro89Ser)
c.604C>T (p.Pro202Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575953C>ACA413922351COL4A5c.590C>A (p.Pro197Gln)
c.266C>A (p.Pro89Gln)
c.605C>A (p.Pro202Gln)
 gnomAD v4
Xg.108575953C>GCA413922348COL4A5c.590C>G (p.Pro197Arg)
c.266C>G (p.Pro89Arg)
c.605C>G (p.Pro202Arg)
Xg.108575953C>TCA413922345COL4A5c.590C>T (p.Pro197Leu)
c.266C>T (p.Pro89Leu)
c.605C>T (p.Pro202Leu)
 gnomAD v4
Xg.108575954A=CA2450681497COL4A5c.591A= (p.Pro197=)
c.267A= (p.Pro89=)
c.606A= (p.Pro202=)
Xg.108575954A>CCA517991696COL4A5c.591A>C (p.Pro197=)
c.267A>C (p.Pro89=)
c.606A>C (p.Pro202=)
Xg.108575954A>GCA517991697COL4A5c.591A>G (p.Pro197=)
c.267A>G (p.Pro89=)
c.606A>G (p.Pro202=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108575954A>TCA517991698COL4A5c.591A>T (p.Pro197=)
c.267A>T (p.Pro89=)
c.606A>T (p.Pro202=)
 gnomAD v4
Xg.108575955G>ACA413922363COL4A5c.592G>A (p.Gly198Arg)
c.268G>A (p.Gly90Arg)
c.607G>A (p.Gly203Arg)
 gnomAD v4
Xg.108575955G>CCA413922359COL4A5c.592G>C (p.Gly198Arg)
c.268G>C (p.Gly90Arg)
c.607G>C (p.Gly203Arg)
Xg.108575955G>TCA413922372COL4A5c.592G>T (p.Gly198Ter)
c.268G>T (p.Gly90Ter)
c.607G>T (p.Gly203Ter)
Xg.108575956G>ACA258279COL4A5c.593G>A (p.Gly198Glu)
c.269G>A (p.Gly90Glu)
c.608G>A (p.Gly203Glu)
 dbSNP gnomAD v4
Xg.108575956G>CCA413922399COL4A5c.593G>C (p.Gly198Ala)
c.269G>C (p.Gly90Ala)
c.608G>C (p.Gly203Ala)
Xg.108575956G=CA2450681498COL4A5c.593G= (p.Gly198=)
c.269G= (p.Gly90=)
c.608G= (p.Gly203=)
Xg.108575956G>TCA413922386COL4A5c.593G>T (p.Gly198Val)
c.269G>T (p.Gly90Val)
c.608G>T (p.Gly203Val)
 gnomAD v4
Xg.108575957A>CCA517991699COL4A5c.594A>C (p.Gly198=)
c.270A>C (p.Gly90=)
c.609A>C (p.Gly203=)
Xg.108575957A>GCA517991700COL4A5c.594A>G (p.Gly198=)
c.270A>G (p.Gly90=)
c.609A>G (p.Gly203=)
Xg.108575957A>TCA517991701COL4A5c.594A>T (p.Gly198=)
c.270A>T (p.Gly90=)
c.609A>T (p.Gly203=)
Xg.108575957dupCA658823831COL4A5c.594dup (p.Pro199ThrfsTer17)
c.270dup (p.Pro91ThrfsTer17)
c.609dup (p.Pro204ThrfsTer17)
 ClinVar dbSNP
Xg.108575957_108575960dupCA2695235184COL4A5c.594_597dup (p.Pro200ThrfsTer17)
c.270_273dup (p.Pro92ThrfsTer17)
c.609_612dup (p.Pro205ThrfsTer17)
Xg.108575958C>ACA413922412COL4A5c.595C>A (p.Pro199Thr)
c.271C>A (p.Pro91Thr)
c.610C>A (p.Pro204Thr)
 gnomAD v4
Xg.108575958C>GCA413922420COL4A5c.595C>G (p.Pro199Ala)
c.271C>G (p.Pro91Ala)
c.610C>G (p.Pro204Ala)
Xg.108575958C>TCA413922423COL4A5c.595C>T (p.Pro199Ser)
c.271C>T (p.Pro91Ser)
c.610C>T (p.Pro204Ser)
 gnomAD v4
Xg.108575959delCA2694411607COL4A5c.596del (p.Pro199HisfsTer4)
c.272del (p.Pro91HisfsTer4)
c.611del (p.Pro204HisfsTer4)
 gnomAD v4
Xg.108575959C>ACA10488513COL4A5c.596C>A (p.Pro199Gln)
c.272C>A (p.Pro91Gln)
c.611C>A (p.Pro204Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108575959C=CA2450681499COL4A5c.596C= (p.Pro199=)
c.272C= (p.Pro91=)
c.611C= (p.Pro204=)
Xg.108575959C>GCA413922424COL4A5c.596C>G (p.Pro199Arg)
c.272C>G (p.Pro91Arg)
c.611C>G (p.Pro204Arg)
Xg.108575959C>TCA413922425COL4A5c.596C>T (p.Pro199Leu)
c.272C>T (p.Pro91Leu)
c.611C>T (p.Pro204Leu)
 gnomAD v4
Xg.108575960A>CCA517991702COL4A5c.597A>C (p.Pro199=)
c.273A>C (p.Pro91=)
c.612A>C (p.Pro204=)
Xg.108575960A>GCA517991703COL4A5c.597A>G (p.Pro199=)
c.273A>G (p.Pro91=)
c.612A>G (p.Pro204=)
 gnomAD v4
Xg.108575960A>TCA517991704COL4A5c.597A>T (p.Pro199=)
c.273A>T (p.Pro91=)
c.612A>T (p.Pro204=)
 gnomAD v4
Xg.108575961C>ACA413922426COL4A5c.598C>A (p.Pro200Thr)
c.274C>A (p.Pro92Thr)
c.613C>A (p.Pro205Thr)
 gnomAD v4
Xg.108575961C>GCA413922428COL4A5c.598C>G (p.Pro200Ala)
c.274C>G (p.Pro92Ala)
c.613C>G (p.Pro205Ala)
Xg.108575961C>TCA413922429COL4A5c.598C>T (p.Pro200Ser)
c.274C>T (p.Pro92Ser)
c.613C>T (p.Pro205Ser)
 gnomAD v4
Xg.108575961_108575962delCA2694411629COL4A5c.598_599del (p.Pro200ArgfsTer15)
c.274_275del (p.Pro92ArgfsTer15)
c.613_614del (p.Pro205ArgfsTer15)
 gnomAD v4
Xg.108575962delCA2694411628COL4A5c.599del (p.Pro200GlnfsTer3)
c.275del (p.Pro92GlnfsTer3)
c.614del (p.Pro205GlnfsTer3)
 gnomAD v4
Xg.108575962C>ACA413922436COL4A5c.599C>A (p.Pro200Gln)
c.275C>A (p.Pro92Gln)
c.614C>A (p.Pro205Gln)
 gnomAD v4
Xg.108575962C>GCA413922437COL4A5c.599C>G (p.Pro200Arg)
c.275C>G (p.Pro92Arg)
c.614C>G (p.Pro205Arg)
 gnomAD v4
Xg.108575962C>TCA413922439COL4A5c.599C>T (p.Pro200Leu)
c.275C>T (p.Pro92Leu)
c.614C>T (p.Pro205Leu)
 ClinVar gnomAD v4
Xg.108575963delCA2740097814COL4A5c.600del (p.Gly201ValfsTer2)
c.276del (p.Gly93ValfsTer2)
c.615del (p.Gly206ValfsTer2)
Xg.108575963A=CA2450681500COL4A5c.600A= (p.Pro200=)
c.276A= (p.Pro92=)
c.615A= (p.Pro205=)

Number of alleles fetched