Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108578297C>ACA413924044COL4A5c.694C>A (p.Gln232Lys)
c.370C>A (p.Gln124Lys)
c.709C>A (p.Gln237Lys)
gnomAD v4
Xg.108578297C>GCA413924045COL4A5c.694C>G (p.Gln232Glu)
c.370C>G (p.Gln124Glu)
c.709C>G (p.Gln237Glu)
Xg.108578297C>TCA413924048COL4A5c.694C>T (p.Gln232Ter)
c.370C>T (p.Gln124Ter)
c.709C>T (p.Gln237Ter)
ClinVar
Xg.108578298A>CCA413924053COL4A5c.695A>C (p.Gln232Pro)
c.371A>C (p.Gln124Pro)
c.710A>C (p.Gln237Pro)
Xg.108578298A>GCA413924056COL4A5c.695A>G (p.Gln232Arg)
c.371A>G (p.Gln124Arg)
c.710A>G (p.Gln237Arg)
Xg.108578298A>TCA413924051COL4A5c.695A>T (p.Gln232Leu)
c.371A>T (p.Gln124Leu)
c.710A>T (p.Gln237Leu)
Xg.108578299A>CCA413924058COL4A5c.696A>C (p.Gln232His)
c.372A>C (p.Gln124His)
c.711A>C (p.Gln237His)
gnomAD v4
Xg.108578299A>GCA517991773COL4A5c.696A>G (p.Gln232=)
c.372A>G (p.Gln124=)
c.711A>G (p.Gln237=)
Xg.108578299A>TCA413924059COL4A5c.696A>T (p.Gln232His)
c.372A>T (p.Gln124His)
c.711A>T (p.Gln237His)
Xg.108578300G>ACA413924061COL4A5c.697G>A (p.Gly233Ser)
c.373G>A (p.Gly125Ser)
c.712G>A (p.Gly238Ser)
Xg.108578300G>CCA413924064COL4A5c.697G>C (p.Gly233Arg)
c.373G>C (p.Gly125Arg)
c.712G>C (p.Gly238Arg)
Xg.108578300G>TCA413924068COL4A5c.697G>T (p.Gly233Cys)
c.373G>T (p.Gly125Cys)
c.712G>T (p.Gly238Cys)
Xg.108578301delCA2695235189COL4A5c.698del (p.Gly233ValfsTer21)
c.374del (p.Gly125ValfsTer21)
c.713del (p.Gly238ValfsTer21)
Xg.108578301G>ACA413924074COL4A5c.698G>A (p.Gly233Asp)
c.374G>A (p.Gly125Asp)
c.713G>A (p.Gly238Asp)
Xg.108578301G>CCA413924069COL4A5c.698G>C (p.Gly233Ala)
c.374G>C (p.Gly125Ala)
c.713G>C (p.Gly238Ala)
ClinVar dbSNP gnomAD v4
Xg.108578301G=CA2450682317COL4A5c.698G= (p.Gly233=)
c.374G= (p.Gly125=)
c.713G= (p.Gly238=)
Xg.108578301G>TCA413924071COL4A5c.698G>T (p.Gly233Val)
c.374G>T (p.Gly125Val)
c.713G>T (p.Gly238Val)
ClinVar dbSNP
Xg.108578302T>ACA517991774COL4A5c.699T>A (p.Gly233=)
c.375T>A (p.Gly125=)
c.714T>A (p.Gly238=)
Xg.108578302T>CCA517991775COL4A5c.699T>C (p.Gly233=)
c.375T>C (p.Gly125=)
c.714T>C (p.Gly238=)
Xg.108578302T>GCA517991776COL4A5c.699T>G (p.Gly233=)
c.375T>G (p.Gly125=)
c.714T>G (p.Gly238=)
Xg.108578303C>ACA413924077COL4A5c.700C>A (p.Leu234Ile)
c.376C>A (p.Leu126Ile)
c.715C>A (p.Leu239Ile)
Xg.108578303C=CA2450682318COL4A5c.700C= (p.Leu234=)
c.376C= (p.Leu126=)
c.715C= (p.Leu239=)
Xg.108578303C>GCA10488551COL4A5c.700C>G (p.Leu234Val)
c.376C>G (p.Leu126Val)
c.715C>G (p.Leu239Val)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578303C>TCA413924081COL4A5c.700C>T (p.Leu234Phe)
c.376C>T (p.Leu126Phe)
c.715C>T (p.Leu239Phe)
Xg.108578304T>ACA413924085COL4A5c.701T>A (p.Leu234His)
c.377T>A (p.Leu126His)
c.716T>A (p.Leu239His)
Xg.108578304T>CCA413924088COL4A5c.701T>C (p.Leu234Pro)
c.377T>C (p.Leu126Pro)
c.716T>C (p.Leu239Pro)
Xg.108578304T>GCA413924090COL4A5c.701T>G (p.Leu234Arg)
c.377T>G (p.Leu126Arg)
c.716T>G (p.Leu239Arg)
Xg.108578305T>ACA517991777COL4A5c.702T>A (p.Leu234=)
c.378T>A (p.Leu126=)
c.717T>A (p.Leu239=)
Xg.108578305T>CCA517991778COL4A5c.702T>C (p.Leu234=)
c.378T>C (p.Leu126=)
c.717T>C (p.Leu239=)
Xg.108578305T>GCA517991779COL4A5c.702T>G (p.Leu234=)
c.378T>G (p.Leu126=)
c.717T>G (p.Leu239=)
Xg.108578306C>ACA413924095COL4A5c.703C>A (p.Gln235Lys)
c.379C>A (p.Gln127Lys)
c.718C>A (p.Gln240Lys)
Xg.108578306C>GCA413924098COL4A5c.703C>G (p.Gln235Glu)
c.379C>G (p.Gln127Glu)
c.718C>G (p.Gln240Glu)
Xg.108578306C>TCA413924093COL4A5c.703C>T (p.Gln235Ter)
c.379C>T (p.Gln127Ter)
c.718C>T (p.Gln240Ter)
ClinVar
Xg.108578307A>CCA413924110COL4A5c.704A>C (p.Gln235Pro)
c.380A>C (p.Gln127Pro)
c.719A>C (p.Gln240Pro)
Xg.108578307A>GCA413924103COL4A5c.704A>G (p.Gln235Arg)
c.380A>G (p.Gln127Arg)
c.719A>G (p.Gln240Arg)
gnomAD v4
Xg.108578307A>TCA413924113COL4A5c.704A>T (p.Gln235Leu)
c.380A>T (p.Gln127Leu)
c.719A>T (p.Gln240Leu)
Xg.108578308G>ACA517991780COL4A5c.705G>A (p.Gln235=)
c.381G>A (p.Gln127=)
c.720G>A (p.Gln240=)
gnomAD v4
Xg.108578308G>CCA413924116COL4A5c.705G>C (p.Gln235His)
c.381G>C (p.Gln127His)
c.720G>C (p.Gln240His)
Xg.108578308G>TCA413924118COL4A5c.705G>T (p.Gln235His)
c.381G>T (p.Gln127His)
c.720G>T (p.Gln240His)
Xg.108578309G>ACA413924121COL4A5c.706G>A (p.Gly236Ser)
c.382G>A (p.Gly128Ser)
c.721G>A (p.Gly241Ser)
ClinVar
Xg.108578309G>CCA413924124COL4A5c.706G>C (p.Gly236Arg)
c.382G>C (p.Gly128Arg)
c.721G>C (p.Gly241Arg)
Xg.108578309G>TCA413924125COL4A5c.706G>T (p.Gly236Cys)
c.382G>T (p.Gly128Cys)
c.721G>T (p.Gly241Cys)
Xg.108578310G>ACA413924126COL4A5c.707G>A (p.Gly236Asp)
c.383G>A (p.Gly128Asp)
c.722G>A (p.Gly241Asp)
ClinVar dbSNP
Xg.108578310G>CCA413924129COL4A5c.707G>C (p.Gly236Ala)
c.383G>C (p.Gly128Ala)
c.722G>C (p.Gly241Ala)
Xg.108578310G=CA2450682319COL4A5c.707G= (p.Gly236=)
c.383G= (p.Gly128=)
c.722G= (p.Gly241=)
Xg.108578310G>TCA413924131COL4A5c.707G>T (p.Gly236Val)
c.383G>T (p.Gly128Val)
c.722G>T (p.Gly241Val)
Xg.108578311C>ACA517991781COL4A5c.708C>A (p.Gly236=)
c.384C>A (p.Gly128=)
c.723C>A (p.Gly241=)
gnomAD v4
Xg.108578311C>GCA517991782COL4A5c.708C>G (p.Gly236=)
c.384C>G (p.Gly128=)
c.723C>G (p.Gly241=)
Xg.108578311C>TCA517991783COL4A5c.708C>T (p.Gly236=)
c.384C>T (p.Gly128=)
c.723C>T (p.Gly241=)
Xg.108578313delCA2580100185COL4A5c.710del (p.Pro237HisfsTer17)
c.386del (p.Pro129HisfsTer17)
c.725del (p.Pro242HisfsTer17)
ClinVar

Number of alleles fetched