Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108571427T>ACA413919823COL4A5c.399T>A (p.Phe133Leu)
c.75T>A (p.Phe25Leu)
c.414T>A (p.Phe138Leu)
Xg.108571427T>CCA517991539COL4A5c.399T>C (p.Phe133=)
c.75T>C (p.Phe25=)
c.414T>C (p.Phe138=)
 gnomAD v4
Xg.108571427T>GCA413919828COL4A5c.399T>G (p.Phe133Leu)
c.75T>G (p.Phe25Leu)
c.414T>G (p.Phe138Leu)
Xg.108571428C>ACA413919831COL4A5c.400C>A (p.Pro134Thr)
c.76C>A (p.Pro26Thr)
c.415C>A (p.Pro139Thr)
 gnomAD v4
Xg.108571428C>GCA413919835COL4A5c.400C>G (p.Pro134Ala)
c.76C>G (p.Pro26Ala)
c.415C>G (p.Pro139Ala)
Xg.108571428C>TCA413919833COL4A5c.400C>T (p.Pro134Ser)
c.76C>T (p.Pro26Ser)
c.415C>T (p.Pro139Ser)
 COSMIC COSMIC
Xg.108571429delCA2579675822COL4A5c.401del (p.Pro134GlnfsTer21)
c.77del (p.Pro26GlnfsTer21)
c.416del (p.Pro139GlnfsTer21)
Xg.108571429C>ACA413919840COL4A5c.401C>A (p.Pro134Gln)
c.77C>A (p.Pro26Gln)
c.416C>A (p.Pro139Gln)
 gnomAD v4
Xg.108571429C>GCA413919850COL4A5c.401C>G (p.Pro134Arg)
c.77C>G (p.Pro26Arg)
c.416C>G (p.Pro139Arg)
Xg.108571429C>TCA413919843COL4A5c.401C>T (p.Pro134Leu)
c.77C>T (p.Pro26Leu)
c.416C>T (p.Pro139Leu)
 gnomAD v4
Xg.108571430A=CA2450680110COL4A5c.402A= (p.Pro134=)
c.78A= (p.Pro26=)
c.417A= (p.Pro139=)
Xg.108571430A>CCA517991542COL4A5c.402A>C (p.Pro134=)
c.78A>C (p.Pro26=)
c.417A>C (p.Pro139=)
Xg.108571430A>GCA517991540COL4A5c.402A>G (p.Pro134=)
c.78A>G (p.Pro26=)
c.417A>G (p.Pro139=)
 ClinVar
Xg.108571430A>TCA517991541COL4A5c.402A>T (p.Pro134=)
c.78A>T (p.Pro26=)
c.417A>T (p.Pro139=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108571431G>ACA413919854COL4A5c.403G>A (p.Gly135Ser)
c.79G>A (p.Gly27Ser)
c.418G>A (p.Gly140Ser)
Xg.108571431G>CCA413919864COL4A5c.403G>C (p.Gly135Arg)
c.79G>C (p.Gly27Arg)
c.418G>C (p.Gly140Arg)
Xg.108571431G>TCA413919861COL4A5c.403G>T (p.Gly135Cys)
c.79G>T (p.Gly27Cys)
c.418G>T (p.Gly140Cys)
 gnomAD v4
Xg.108571432G>ACA413919868COL4A5c.404G>A (p.Gly135Asp)
c.80G>A (p.Gly27Asp)
c.419G>A (p.Gly140Asp)
 ClinVar dbSNP gnomAD v4
Xg.108571432G>CCA413919901COL4A5c.404G>C (p.Gly135Ala)
c.80G>C (p.Gly27Ala)
c.419G>C (p.Gly140Ala)
 gnomAD v4
Xg.108571432G=CA2450680111COL4A5c.404G= (p.Gly135=)
c.80G= (p.Gly27=)
c.419G= (p.Gly140=)
Xg.108571432G>TCA413919895COL4A5c.404G>T (p.Gly135Val)
c.80G>T (p.Gly27Val)
c.419G>T (p.Gly140Val)
 ClinVar COSMIC COSMIC
Xg.108571433C>ACA517991543COL4A5c.405C>A (p.Gly135=)
c.81C>A (p.Gly27=)
c.420C>A (p.Gly140=)
Xg.108571433C=CA2450680112COL4A5c.405C= (p.Gly135=)
c.81C= (p.Gly27=)
c.420C= (p.Gly140=)
Xg.108571433C>GCA517991544COL4A5c.405C>G (p.Gly135=)
c.81C>G (p.Gly27=)
c.420C>G (p.Gly140=)
Xg.108571433C>TCA10488450COL4A5c.405C>T (p.Gly135=)
c.81C>T (p.Gly27=)
c.420C>T (p.Gly140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571434A=CA2450680113COL4A5c.406A= (p.Ser136=)
c.82A= (p.Ser28=)
c.421A= (p.Ser141=)
Xg.108571434A>CCA413919906COL4A5c.406A>C (p.Ser136Arg)
c.82A>C (p.Ser28Arg)
c.421A>C (p.Ser141Arg)
Xg.108571434A>GCA10488451COL4A5c.406A>G (p.Ser136Gly)
c.82A>G (p.Ser28Gly)
c.421A>G (p.Ser141Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571434A>TCA413919908COL4A5c.406A>T (p.Ser136Cys)
c.82A>T (p.Ser28Cys)
c.421A>T (p.Ser141Cys)
Xg.108571435G>ACA413919917COL4A5c.407G>A (p.Ser136Asn)
c.83G>A (p.Ser28Asn)
c.422G>A (p.Ser141Asn)
Xg.108571435G>CCA413919919COL4A5c.407G>C (p.Ser136Thr)
c.83G>C (p.Ser28Thr)
c.422G>C (p.Ser141Thr)
Xg.108571435G>TCA413919930COL4A5c.407G>T (p.Ser136Ile)
c.83G>T (p.Ser28Ile)
c.422G>T (p.Ser141Ile)
Xg.108571436T>ACA413919941COL4A5c.408T>A (p.Ser136Arg)
c.84T>A (p.Ser28Arg)
c.423T>A (p.Ser141Arg)
Xg.108571436T>CCA517991545COL4A5c.408T>C (p.Ser136=)
c.84T>C (p.Ser28=)
c.423T>C (p.Ser141=)
Xg.108571436T>GCA413919945COL4A5c.408T>G (p.Ser136Arg)
c.84T>G (p.Ser28Arg)
c.423T>G (p.Ser141Arg)
Xg.108571437C>ACA413919982COL4A5c.409C>A (p.Pro137Thr)
c.85C>A (p.Pro29Thr)
c.424C>A (p.Pro142Thr)
 dbSNP gnomAD v4
Xg.108571437C=CA2450680114COL4A5c.409C= (p.Pro137=)
c.85C= (p.Pro29=)
c.424C= (p.Pro142=)
Xg.108571437C>GCA413919981COL4A5c.409C>G (p.Pro137Ala)
c.85C>G (p.Pro29Ala)
c.424C>G (p.Pro142Ala)
Xg.108571437C>TCA413919965COL4A5c.409C>T (p.Pro137Ser)
c.85C>T (p.Pro29Ser)
c.424C>T (p.Pro142Ser)
Xg.108571438C>ACA413919984COL4A5c.410C>A (p.Pro137His)
c.86C>A (p.Pro29His)
c.425C>A (p.Pro142His)
Xg.108571438C>GCA413919985COL4A5c.410C>G (p.Pro137Arg)
c.86C>G (p.Pro29Arg)
c.425C>G (p.Pro142Arg)
Xg.108571438C>TCA413919989COL4A5c.410C>T (p.Pro137Leu)
c.86C>T (p.Pro29Leu)
c.425C>T (p.Pro142Leu)
Xg.108571439C>ACA517991546COL4A5c.411C>A (p.Pro137=)
c.87C>A (p.Pro29=)
c.426C>A (p.Pro142=)
 gnomAD v4
Xg.108571439C=CA2450680115COL4A5c.411C= (p.Pro137=)
c.87C= (p.Pro29=)
c.426C= (p.Pro142=)
Xg.108571439C>GCA517991547COL4A5c.411C>G (p.Pro137=)
c.87C>G (p.Pro29=)
c.426C>G (p.Pro142=)
 COSMIC COSMIC
Xg.108571439C>TCA10488452COL4A5c.411C>T (p.Pro137=)
c.87C>T (p.Pro29=)
c.426C>T (p.Pro142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108571440G>ACA10488453COL4A5c.412G>A (p.Gly138Ser)
c.88G>A (p.Gly30Ser)
c.427G>A (p.Gly143Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108571440G>CCA413920002COL4A5c.412G>C (p.Gly138Arg)
c.88G>C (p.Gly30Arg)
c.427G>C (p.Gly143Arg)
Xg.108571440G=CA2450680116COL4A5c.412G= (p.Gly138=)
c.88G= (p.Gly30=)
c.427G= (p.Gly143=)
Xg.108571440G>TCA413920006COL4A5c.412G>T (p.Gly138Cys)
c.88G>T (p.Gly30Cys)
c.427G>T (p.Gly143Cys)
 ClinVar dbSNP COSMIC COSMIC

Number of alleles fetched