Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108577944C>TCA2822894549COL4A5c.610-8C>T (n.610-8C>T)
c.286-8C>T (n.286-8C>T)
c.625-8C>T (n.625-8C>T)
Xg.108577947C=CA2450682163COL4A5c.610-5C= (n.610-5C=)
c.286-5C= (n.286-5C=)
c.625-5C= (n.625-5C=)
Xg.108577947C>TCA10488527COL4A5c.610-5C>T (n.610-5C>T)
c.286-5C>T (n.286-5C>T)
c.625-5C>T (n.625-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108577949T>CCA643749902COL4A5c.610-3T>C (n.610-3T>C)
c.286-3T>C (n.286-3T>C)
c.625-3T>C (n.625-3T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108577949T=CA2450682165COL4A5c.610-3T= (n.610-3T=)
c.286-3T= (n.286-3T=)
c.625-3T= (n.625-3T=)
Xg.108577949_108577968delinsTAGGGCCCTCCTGGTCCACCCA2450682164COL4A5c.610-3_626delinsTAGGGCCCTCCTGGTCCACC
c.286-3_302delinsTAGGGCCCTCCTGGTCCACC
c.625-3_641delinsTAGGGCCCTCCTGGTCCACC
Xg.108577950delCA2579675930COL4A5c.610-2del (n.610-2del)
c.286-2del (n.286-2del)
c.625-2del (n.625-2del)
Xg.108577950A=CA2450682166COL4A5c.610-2A= (n.610-2A=)
c.286-2A= (n.286-2A=)
c.625-2A= (n.625-2A=)
Xg.108577950A>CCA413922907COL4A5c.610-2A>C (n.610-2A>C)
c.286-2A>C (n.286-2A>C)
c.625-2A>C (n.625-2A>C)
Xg.108577950A>GCA258287COL4A5c.610-2A>G (n.610-2A>G)
c.286-2A>G (n.286-2A>G)
c.625-2A>G (n.625-2A>G)
 dbSNP gnomAD v4
Xg.108577950A>TCA413922909COL4A5c.610-2A>T (n.610-2A>T)
c.286-2A>T (n.286-2A>T)
c.625-2A>T (n.625-2A>T)
Xg.108577953_108577971delCA258288COL4A5c.611_629del
c.287_305del
c.626_644del
 dbSNP
Xg.108577951G>ACA413922921COL4A5c.610-1G>A (n.610-1G>A)
c.286-1G>A (n.286-1G>A)
c.625-1G>A (n.625-1G>A)
Xg.108577951G>CCA413922926COL4A5c.610-1G>C (n.610-1G>C)
c.286-1G>C (n.286-1G>C)
c.625-1G>C (n.625-1G>C)
Xg.108577951G>TCA413922941COL4A5c.610-1G>T (n.610-1G>T)
c.286-1G>T (n.286-1G>T)
c.625-1G>T (n.625-1G>T)
 gnomAD v4
Xg.108577952G>ACA413922945COL4A5c.610G>A (p.Gly204Ser)
c.286G>A (p.Gly96Ser)
c.625G>A (p.Gly209Ser)
Xg.108577952G>CCA413922947COL4A5c.610G>C (p.Gly204Arg)
c.286G>C (p.Gly96Arg)
c.625G>C (p.Gly209Arg)
Xg.108577952G>TCA413922946COL4A5c.610G>T (p.Gly204Cys)
c.286G>T (p.Gly96Cys)
c.625G>T (p.Gly209Cys)
Xg.108577952_108577954delinsGGCCA2450682167COL4A5c.610_612delinsGGC (p.Gly204=)
c.286_288delinsGGC (p.Gly96=)
c.625_627delinsGGC (p.Gly209=)
Xg.108577953G>ACA258289COL4A5c.611G>A (p.Gly204Asp)
c.287G>A (p.Gly96Asp)
c.626G>A (p.Gly209Asp)
 ClinVar dbSNP
Xg.108577953G>CCA413922952COL4A5c.611G>C (p.Gly204Ala)
c.287G>C (p.Gly96Ala)
c.626G>C (p.Gly209Ala)
Xg.108577953G=CA2450682168COL4A5c.611G= (p.Gly204=)
c.287G= (p.Gly96=)
c.626G= (p.Gly209=)
Xg.108577953G>TCA258292COL4A5c.611G>T (p.Gly204Val)
c.287G>T (p.Gly96Val)
c.626G>T (p.Gly209Val)
 dbSNP
Xg.108577953_108577954delCA258294COL4A5c.611_612del (p.Gly204AlafsTer11)
c.287_288del (p.Gly96AlafsTer11)
c.626_627del (p.Gly209AlafsTer11)
 ClinVar dbSNP
Xg.108577954C>ACA517991713COL4A5c.612C>A (p.Gly204=)
c.288C>A (p.Gly96=)
c.627C>A (p.Gly209=)
 gnomAD v4
Xg.108577954C>GCA517991714COL4A5c.612C>G (p.Gly204=)
c.288C>G (p.Gly96=)
c.627C>G (p.Gly209=)
Xg.108577954C>TCA517991715COL4A5c.612C>T (p.Gly204=)
c.288C>T (p.Gly96=)
c.627C>T (p.Gly209=)
 ClinVar dbSNP
Xg.108577955C>ACA413922967COL4A5c.613C>A (p.Pro205Thr)
c.289C>A (p.Pro97Thr)
c.628C>A (p.Pro210Thr)
 gnomAD v4
Xg.108577955C=CA2450682169COL4A5c.613C= (p.Pro205=)
c.289C= (p.Pro97=)
c.628C= (p.Pro210=)
Xg.108577955C>GCA413922970COL4A5c.613C>G (p.Pro205Ala)
c.289C>G (p.Pro97Ala)
c.628C>G (p.Pro210Ala)
Xg.108577955C>TCA413922974COL4A5c.613C>T (p.Pro205Ser)
c.289C>T (p.Pro97Ser)
c.628C>T (p.Pro210Ser)
 dbSNP gnomAD v4
Xg.108577956C>ACA413922978COL4A5c.614C>A (p.Pro205His)
c.290C>A (p.Pro97His)
c.629C>A (p.Pro210His)
 gnomAD v4
Xg.108577956C=CA2450682170COL4A5c.614C= (p.Pro205=)
c.290C= (p.Pro97=)
c.629C= (p.Pro210=)
Xg.108577956C>GCA413922979COL4A5c.614C>G (p.Pro205Arg)
c.290C>G (p.Pro97Arg)
c.629C>G (p.Pro210Arg)
 dbSNP
Xg.108577956C>TCA413922980COL4A5c.614C>T (p.Pro205Leu)
c.290C>T (p.Pro97Leu)
c.629C>T (p.Pro210Leu)
 gnomAD v4
Xg.108577957T>ACA517991716COL4A5c.615T>A (p.Pro205=)
c.291T>A (p.Pro97=)
c.630T>A (p.Pro210=)
Xg.108577957T>CCA517991718COL4A5c.615T>C (p.Pro205=)
c.291T>C (p.Pro97=)
c.630T>C (p.Pro210=)
 gnomAD v4
Xg.108577957T>GCA517991717COL4A5c.615T>G (p.Pro205=)
c.291T>G (p.Pro97=)
c.630T>G (p.Pro210=)
 gnomAD v4
Xg.108577958C>ACA413922985COL4A5c.616C>A (p.Pro206Thr)
c.292C>A (p.Pro98Thr)
c.631C>A (p.Pro211Thr)
Xg.108577958C>GCA413922987COL4A5c.616C>G (p.Pro206Ala)
c.292C>G (p.Pro98Ala)
c.631C>G (p.Pro211Ala)
Xg.108577958C>TCA413922982COL4A5c.616C>T (p.Pro206Ser)
c.292C>T (p.Pro98Ser)
c.631C>T (p.Pro211Ser)
Xg.108577959C>ACA413922994COL4A5c.617C>A (p.Pro206His)
c.293C>A (p.Pro98His)
c.632C>A (p.Pro211His)
Xg.108577959C>GCA413923005COL4A5c.617C>G (p.Pro206Arg)
c.293C>G (p.Pro98Arg)
c.632C>G (p.Pro211Arg)
Xg.108577959C>TCA413923002COL4A5c.617C>T (p.Pro206Leu)
c.293C>T (p.Pro98Leu)
c.632C>T (p.Pro211Leu)
Xg.108577960T>ACA517991719COL4A5c.618T>A (p.Pro206=)
c.294T>A (p.Pro98=)
c.633T>A (p.Pro211=)
Xg.108577960T>CCA517991720COL4A5c.618T>C (p.Pro206=)
c.294T>C (p.Pro98=)
c.633T>C (p.Pro211=)
 ClinVar
Xg.108577960T>GCA517991721COL4A5c.618T>G (p.Pro206=)
c.294T>G (p.Pro98=)
c.633T>G (p.Pro211=)
Xg.108577961G>ACA413923010COL4A5c.619G>A (p.Gly207Ser)
c.295G>A (p.Gly99Ser)
c.634G>A (p.Gly212Ser)
 ClinVar dbSNP
Xg.108577961G>CCA413923015COL4A5c.619G>C (p.Gly207Arg)
c.295G>C (p.Gly99Arg)
c.634G>C (p.Gly212Arg)
 ClinVar dbSNP
Xg.108577961G=CA2450682171COL4A5c.619G= (p.Gly207=)
c.295G= (p.Gly99=)
c.634G= (p.Gly212=)
Xg.108577961G>TCA413923012COL4A5c.619G>T (p.Gly207Cys)
c.295G>T (p.Gly99Cys)
c.634G>T (p.Gly212Cys)
Xg.108577962delCA2579675931COL4A5c.620del (p.Gly207ValfsTer14)
c.296del (p.Gly99ValfsTer14)
c.635del (p.Gly212ValfsTer14)
 gnomAD v4
Xg.108577962G>ACA413923023COL4A5c.620G>A (p.Gly207Asp)
c.296G>A (p.Gly99Asp)
c.635G>A (p.Gly212Asp)
 gnomAD v4
Xg.108577962G>CCA413923033COL4A5c.620G>C (p.Gly207Ala)
c.296G>C (p.Gly99Ala)
c.635G>C (p.Gly212Ala)
Xg.108577962G>TCA413923036COL4A5c.620G>T (p.Gly207Val)
c.296G>T (p.Gly99Val)
c.635G>T (p.Gly212Val)
 ClinVar gnomAD v4
Xg.108577963T>ACA517991722COL4A5c.621T>A (p.Gly207=)
c.297T>A (p.Gly99=)
c.636T>A (p.Gly212=)
Xg.108577963T>CCA517991723COL4A5c.621T>C (p.Gly207=)
c.297T>C (p.Gly99=)
c.636T>C (p.Gly212=)
Xg.108577963T>GCA517991724COL4A5c.621T>G (p.Gly207=)
c.297T>G (p.Gly99=)
c.636T>G (p.Gly212=)
Xg.108577964C>ACA413923039COL4A5c.622C>A (p.Pro208Thr)
c.298C>A (p.Pro100Thr)
c.637C>A (p.Pro213Thr)
Xg.108577964C=CA2450682172COL4A5c.622C= (p.Pro208=)
c.298C= (p.Pro100=)
c.637C= (p.Pro213=)
Xg.108577964C>GCA413923044COL4A5c.622C>G (p.Pro208Ala)
c.298C>G (p.Pro100Ala)
c.637C>G (p.Pro213Ala)
Xg.108577964C>TCA413923053COL4A5c.622C>T (p.Pro208Ser)
c.298C>T (p.Pro100Ser)
c.637C>T (p.Pro213Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.108577965C>ACA413923056COL4A5c.623C>A (p.Pro208Gln)
c.299C>A (p.Pro100Gln)
c.638C>A (p.Pro213Gln)
Xg.108577965C=CA2450682173COL4A5c.623C= (p.Pro208=)
c.299C= (p.Pro100=)
c.638C= (p.Pro213=)
Xg.108577965C>GCA413923057COL4A5c.623C>G (p.Pro208Arg)
c.299C>G (p.Pro100Arg)
c.638C>G (p.Pro213Arg)
Xg.108577965C>TCA413923059COL4A5c.623C>T (p.Pro208Leu)
c.299C>T (p.Pro100Leu)
c.638C>T (p.Pro213Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108577966A>CCA517991725COL4A5c.624A>C (p.Pro208=)
c.300A>C (p.Pro100=)
c.639A>C (p.Pro213=)
Xg.108577966A>GCA517991726COL4A5c.624A>G (p.Pro208=)
c.300A>G (p.Pro100=)
c.639A>G (p.Pro213=)
Xg.108577966A>TCA517991727COL4A5c.624A>T (p.Pro208=)
c.300A>T (p.Pro100=)
c.639A>T (p.Pro213=)
Xg.108577967C>ACA413923062COL4A5c.625C>A (p.Pro209Thr)
c.301C>A (p.Pro101Thr)
c.640C>A (p.Pro214Thr)
 dbSNP
Xg.108577967C=CA2450682174COL4A5c.625C= (p.Pro209=)
c.301C= (p.Pro101=)
c.640C= (p.Pro214=)
Xg.108577967C>GCA413923063COL4A5c.625C>G (p.Pro209Ala)
c.301C>G (p.Pro101Ala)
c.640C>G (p.Pro214Ala)
 dbSNP
Xg.108577967C>TCA413923067COL4A5c.625C>T (p.Pro209Ser)
c.301C>T (p.Pro101Ser)
c.640C>T (p.Pro214Ser)
Xg.108577968C>ACA413923083COL4A5c.626C>A (p.Pro209Gln)
c.302C>A (p.Pro101Gln)
c.641C>A (p.Pro214Gln)
Xg.108577968C>GCA413923097COL4A5c.626C>G (p.Pro209Arg)
c.302C>G (p.Pro101Arg)
c.641C>G (p.Pro214Arg)
Xg.108577968C>TCA413923093COL4A5c.626C>T (p.Pro209Leu)
c.302C>T (p.Pro101Leu)
c.641C>T (p.Pro214Leu)
 gnomAD v4
Xg.108577969A>CCA517991728COL4A5c.627A>C (p.Pro209=)
c.303A>C (p.Pro101=)
c.642A>C (p.Pro214=)
Xg.108577969A>GCA517991729COL4A5c.627A>G (p.Pro209=)
c.303A>G (p.Pro101=)
c.642A>G (p.Pro214=)
 gnomAD v4
Xg.108577969A>TCA517991730COL4A5c.627A>T (p.Pro209=)
c.303A>T (p.Pro101=)
c.642A>T (p.Pro214=)
Xg.108577970G>ACA413923113COL4A5c.628G>A (p.Gly210Arg)
c.304G>A (p.Gly102Arg)
c.643G>A (p.Gly215Arg)
Xg.108577970G>CCA413923116COL4A5c.628G>C (p.Gly210Arg)
c.304G>C (p.Gly102Arg)
c.643G>C (p.Gly215Arg)
Xg.108577970G>TCA413923119COL4A5c.628G>T (p.Gly210Ter)
c.304G>T (p.Gly102Ter)
c.643G>T (p.Gly215Ter)
 COSMIC COSMIC
Xg.108577971G>ACA413923124COL4A5c.629G>A (p.Gly210Glu)
c.305G>A (p.Gly102Glu)
c.644G>A (p.Gly215Glu)
 ClinVar dbSNP
Xg.108577971G>CCA413923128COL4A5c.629G>C (p.Gly210Ala)
c.305G>C (p.Gly102Ala)
c.644G>C (p.Gly215Ala)
Xg.108577971G>TCA413923138COL4A5c.629G>T (p.Gly210Val)
c.305G>T (p.Gly102Val)
c.644G>T (p.Gly215Val)
Xg.108577972A>CCA517991731COL4A5c.630A>C (p.Gly210=)
c.306A>C (p.Gly102=)
c.645A>C (p.Gly215=)
Xg.108577972A>GCA517991732COL4A5c.630A>G (p.Gly210=)
c.306A>G (p.Gly102=)
c.645A>G (p.Gly215=)
Xg.108577972A>TCA517991733COL4A5c.630A>T (p.Gly210=)
c.306A>T (p.Gly102=)
c.645A>T (p.Gly215=)
Xg.108577973C>ACA413923157COL4A5c.631C>A (p.Leu211Ile)
c.307C>A (p.Leu103Ile)
c.646C>A (p.Leu216Ile)
Xg.108577973C>GCA413923172COL4A5c.631C>G (p.Leu211Val)
c.307C>G (p.Leu103Val)
c.646C>G (p.Leu216Val)
Xg.108577973C>TCA413923174COL4A5c.631C>T (p.Leu211Phe)
c.307C>T (p.Leu103Phe)
c.646C>T (p.Leu216Phe)
Xg.108577974T>ACA413923186COL4A5c.632T>A (p.Leu211His)
c.308T>A (p.Leu103His)
c.647T>A (p.Leu216His)
Xg.108577974T>CCA413923189COL4A5c.632T>C (p.Leu211Pro)
c.308T>C (p.Leu103Pro)
c.647T>C (p.Leu216Pro)
 gnomAD v4
Xg.108577974T>GCA413923182COL4A5c.632T>G (p.Leu211Arg)
c.308T>G (p.Leu103Arg)
c.647T>G (p.Leu216Arg)
Xg.108577975T>ACA517991734COL4A5c.633T>A (p.Leu211=)
c.309T>A (p.Leu103=)
c.648T>A (p.Leu216=)
Xg.108577975T>CCA517991735COL4A5c.633T>C (p.Leu211=)
c.309T>C (p.Leu103=)
c.648T>C (p.Leu216=)
Xg.108577975T>GCA517991736COL4A5c.633T>G (p.Leu211=)
c.309T>G (p.Leu103=)
c.648T>G (p.Leu216=)
Xg.108577975_108577976delinsTCCA2450682175COL4A5c.633_634delinsTC (p.Leu211=)
c.309_310delinsTC (p.Leu103=)
c.648_649delinsTC (p.Leu216=)
Xg.108577976C>ACA413923195COL4A5c.634C>A (p.Pro212Thr)
c.310C>A (p.Pro104Thr)
c.649C>A (p.Pro217Thr)
Xg.108577976C>GCA413923202COL4A5c.634C>G (p.Pro212Ala)
c.310C>G (p.Pro104Ala)
c.649C>G (p.Pro217Ala)
Xg.108577976C>TCA413923207COL4A5c.634C>T (p.Pro212Ser)
c.310C>T (p.Pro104Ser)
c.649C>T (p.Pro217Ser)
Xg.108577977delCA258295COL4A5c.635del (p.Pro212GlnfsTer9)
c.311del (p.Pro104GlnfsTer9)
c.650del (p.Pro217GlnfsTer9)
 ClinVar dbSNP
Xg.108577976_108577978delCA2695235186COL4A5c.634_636del (p.Pro212del)
c.310_312del (p.Pro104del)
c.649_651del (p.Pro217del)
Xg.108577977C>ACA413923215COL4A5c.635C>A (p.Pro212Gln)
c.311C>A (p.Pro104Gln)
c.650C>A (p.Pro217Gln)
Xg.108577977C>GCA413923210COL4A5c.635C>G (p.Pro212Arg)
c.311C>G (p.Pro104Arg)
c.650C>G (p.Pro217Arg)
Xg.108577977C>TCA413923209COL4A5c.635C>T (p.Pro212Leu)
c.311C>T (p.Pro104Leu)
c.650C>T (p.Pro217Leu)
Xg.108577978A>CCA517991737COL4A5c.636A>C (p.Pro212=)
c.312A>C (p.Pro104=)
c.651A>C (p.Pro217=)
Xg.108577978A>GCA517991739COL4A5c.636A>G (p.Pro212=)
c.312A>G (p.Pro104=)
c.651A>G (p.Pro217=)
Xg.108577978A>TCA517991738COL4A5c.636A>T (p.Pro212=)
c.312A>T (p.Pro104=)
c.651A>T (p.Pro217=)
Xg.108577979G>ACA334180201COL4A5c.637G>A (p.Gly213Arg)
c.313G>A (p.Gly105Arg)
c.652G>A (p.Gly218Arg)
 dbSNP
Xg.108577979G>CCA413923223COL4A5c.637G>C (p.Gly213Arg)
c.313G>C (p.Gly105Arg)
c.652G>C (p.Gly218Arg)
 ClinVar dbSNP
Xg.108577979G=CA2450682176COL4A5c.637G= (p.Gly213=)
c.313G= (p.Gly105=)
c.652G= (p.Gly218=)
Xg.108577979G>TCA413923227COL4A5c.637G>T (p.Gly213Ter)
c.313G>T (p.Gly105Ter)
c.652G>T (p.Gly218Ter)
Xg.108577980G>ACA258296COL4A5c.638G>A (p.Gly213Glu)
c.314G>A (p.Gly105Glu)
c.653G>A (p.Gly218Glu)
 ClinVar dbSNP
Xg.108577980G>CCA413923234COL4A5c.638G>C (p.Gly213Ala)
c.314G>C (p.Gly105Ala)
c.653G>C (p.Gly218Ala)
Xg.108577980G=CA2450682177COL4A5c.638G= (p.Gly213=)
c.314G= (p.Gly105=)
c.653G= (p.Gly218=)
Xg.108577980G>TCA413923235COL4A5c.638G>T (p.Gly213Val)
c.314G>T (p.Gly105Val)
c.653G>T (p.Gly218Val)
 ClinVar dbSNP
Xg.108577981A>CCA517991740COL4A5c.639A>C (p.Gly213=)
c.315A>C (p.Gly105=)
c.654A>C (p.Gly218=)
Xg.108577981A>GCA517991741COL4A5c.639A>G (p.Gly213=)
c.315A>G (p.Gly105=)
c.654A>G (p.Gly218=)
 ClinVar dbSNP gnomAD v4
Xg.108577981A>TCA517991742COL4A5c.639A>T (p.Gly213=)
c.315A>T (p.Gly105=)
c.654A>T (p.Gly218=)
 COSMIC COSMIC
Xg.108577982C>ACA413923241COL4A5c.640C>A (p.Pro214Thr)
c.316C>A (p.Pro106Thr)
c.655C>A (p.Pro219Thr)
Xg.108577982C>GCA413923245COL4A5c.640C>G (p.Pro214Ala)
c.316C>G (p.Pro106Ala)
c.655C>G (p.Pro219Ala)
Xg.108577982C>TCA413923243COL4A5c.640C>T (p.Pro214Ser)
c.316C>T (p.Pro106Ser)
c.655C>T (p.Pro219Ser)
Xg.108577983C>ACA413923250COL4A5c.641C>A (p.Pro214His)
c.317C>A (p.Pro106His)
c.656C>A (p.Pro219His)
Xg.108577983C>GCA413923252COL4A5c.641C>G (p.Pro214Arg)
c.317C>G (p.Pro106Arg)
c.656C>G (p.Pro219Arg)
Xg.108577983C>TCA413923257COL4A5c.641C>T (p.Pro214Leu)
c.317C>T (p.Pro106Leu)
c.656C>T (p.Pro219Leu)
Xg.108577984T>ACA517991743COL4A5c.642T>A (p.Pro214=)
c.318T>A (p.Pro106=)
c.657T>A (p.Pro219=)
Xg.108577984T>CCA517991744COL4A5c.642T>C (p.Pro214=)
c.318T>C (p.Pro106=)
c.657T>C (p.Pro219=)
 gnomAD v4
Xg.108577984T>GCA517991745COL4A5c.642T>G (p.Pro214=)
c.318T>G (p.Pro106=)
c.657T>G (p.Pro219=)
Xg.108577985A>CCA413923263COL4A5c.643A>C (p.Lys215Gln)
c.319A>C (p.Lys107Gln)
c.658A>C (p.Lys220Gln)
Xg.108577985A>GCA413923273COL4A5c.643A>G (p.Lys215Glu)
c.319A>G (p.Lys107Glu)
c.658A>G (p.Lys220Glu)
Xg.108577985A>TCA413923277COL4A5c.643A>T (p.Lys215Ter)
c.319A>T (p.Lys107Ter)
c.658A>T (p.Lys220Ter)
 ClinVar
Xg.108577986A>CCA413923278COL4A5c.644A>C (p.Lys215Thr)
c.320A>C (p.Lys107Thr)
c.659A>C (p.Lys220Thr)
Xg.108577986A>GCA413923283COL4A5c.644A>G (p.Lys215Arg)
c.320A>G (p.Lys107Arg)
c.659A>G (p.Lys220Arg)
Xg.108577986A>TCA413923286COL4A5c.644A>T (p.Lys215Met)
c.320A>T (p.Lys107Met)
c.659A>T (p.Lys220Met)
Xg.108577987G>ACA10488528COL4A5c.645G>A (p.Lys215=)
c.321G>A (p.Lys107=)
c.660G>A (p.Lys220=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108577987G>CCA413923289COL4A5c.645G>C (p.Lys215Asn)
c.321G>C (p.Lys107Asn)
c.660G>C (p.Lys220Asn)
Xg.108577987G=CA2450682178COL4A5c.645G= (p.Lys215=)
c.321G= (p.Lys107=)
c.660G= (p.Lys220=)
Xg.108577987G>TCA413923290COL4A5c.645G>T (p.Lys215Asn)
c.321G>T (p.Lys107Asn)
c.660G>T (p.Lys220Asn)
Xg.108577988G>ACA413923306COL4A5c.645+1G>A (n.645+1G>A)
c.321+1G>A (n.321+1G>A)
c.660+1G>A (n.660+1G>A)
 gnomAD v4
Xg.108577988G>CCA413923296COL4A5c.645+1G>C (n.645+1G>C)
c.321+1G>C (n.321+1G>C)
c.660+1G>C (n.660+1G>C)
Xg.108577988G=CA2450682179COL4A5c.645+1G= (n.645+1G=)
c.321+1G= (n.321+1G=)
c.660+1G= (n.660+1G=)
Xg.108577988G>TCA413923292COL4A5c.645+1G>T (n.645+1G>T)
c.321+1G>T (n.321+1G>T)
c.660+1G>T (n.660+1G>T)
 ClinVar dbSNP
Xg.108577990_108578023delCA2580100181COL4A5c.645+3_645+36del (n.645+3_645+36del)
c.321+3_321+36del (n.321+3_321+36del)
c.660+3_660+36del (n.660+3_660+36del)
 ClinVar
Xg.108577989T>ACA413923331COL4A5c.645+2T>A (n.645+2T>A)
c.321+2T>A (n.321+2T>A)
c.660+2T>A (n.660+2T>A)
Xg.108577989T>CCA413923312COL4A5c.645+2T>C (n.645+2T>C)
c.321+2T>C (n.321+2T>C)
c.660+2T>C (n.660+2T>C)
 ClinVar dbSNP gnomAD v4
Xg.108577989T>GCA413923325COL4A5c.645+2T>G (n.645+2T>G)
c.321+2T>G (n.321+2T>G)
c.660+2T>G (n.660+2T>G)
Xg.108577989T=CA2450682180COL4A5c.645+2T= (n.645+2T=)
c.321+2T= (n.321+2T=)
c.660+2T= (n.660+2T=)
Xg.108577991A=CA2450682181COL4A5c.645+4A= (n.645+4A=)
c.321+4A= (n.321+4A=)
c.660+4A= (n.660+4A=)
Xg.108577991A>GCA1136179033COL4A5c.645+4A>G (n.645+4A>G)
c.321+4A>G (n.321+4A>G)
c.660+4A>G (n.660+4A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108577995delCA2694412041COL4A5c.645+8del (n.645+8del)
c.321+8del (n.321+8del)
c.660+8del (n.660+8del)
 gnomAD v4
Xg.108577993T>GCA2694412042COL4A5c.645+6T>G (n.645+6T>G)
c.321+6T>G (n.321+6T>G)
c.660+6T>G (n.660+6T>G)
 gnomAD v4
Xg.108577997T>CCA2694412045COL4A5c.645+10T>C (n.645+10T>C)
c.321+10T>C (n.321+10T>C)
c.660+10T>C (n.660+10T>C)
 gnomAD v4
Xg.108578001delCA2694412044COL4A5c.645+14del (n.645+14del)
c.321+14del (n.321+14del)
c.660+14del (n.660+14del)
 gnomAD v4
Xg.108578000T>ACA10488529COL4A5c.645+13T>A (n.645+13T>A)
c.321+13T>A (n.321+13T>A)
c.660+13T>A (n.660+13T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578000T=CA2450682182COL4A5c.645+13T= (n.645+13T=)
c.321+13T= (n.321+13T=)
c.660+13T= (n.660+13T=)
Xg.108578003T>CCA2697544682COL4A5c.645+16T>C (n.645+16T>C)
c.321+16T>C (n.321+16T>C)
c.660+16T>C (n.660+16T>C)
 ClinVar
Xg.108578004T>CCA334180206COL4A5c.645+17T>C (n.645+17T>C)
c.321+17T>C (n.321+17T>C)
c.660+17T>C (n.660+17T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578004T>GCA2694412047COL4A5c.645+17T>G (n.645+17T>G)
c.321+17T>G (n.321+17T>G)
c.660+17T>G (n.660+17T>G)
 gnomAD v4
Xg.108578004T=CA2450682183COL4A5c.645+17T= (n.645+17T=)
c.321+17T= (n.321+17T=)
c.660+17T= (n.660+17T=)
Xg.108578005T>CCA2450682185COL4A5c.645+18T>C (n.645+18T>C)
c.321+18T>C (n.321+18T>C)
c.660+18T>C (n.660+18T>C)
 dbSNP gnomAD v4
Xg.108578005T=CA2450682184COL4A5c.645+18T= (n.645+18T=)
c.321+18T= (n.321+18T=)
c.660+18T= (n.660+18T=)
Xg.108578006A=CA2450682186COL4A5c.645+19A= (n.645+19A=)
c.321+19A= (n.321+19A=)
c.660+19A= (n.660+19A=)
Xg.108578006A>GCA10488530COL4A5c.645+19A>G (n.645+19A>G)
c.321+19A>G (n.321+19A>G)
c.660+19A>G (n.660+19A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578007T>CCA2579675932COL4A5c.645+20T>C (n.645+20T>C)
c.321+20T>C (n.321+20T>C)
c.660+20T>C (n.660+20T>C)
Xg.108578008A=CA2450682187COL4A5c.645+21A= (n.645+21A=)
c.321+21A= (n.321+21A=)
c.660+21A= (n.660+21A=)
Xg.108578008A>GCA2450682188COL4A5c.645+21A>G (n.645+21A>G)
c.321+21A>G (n.321+21A>G)
c.660+21A>G (n.660+21A>G)
 dbSNP gnomAD v4
Xg.108578009T>ACA2694412053COL4A5c.645+22T>A (n.645+22T>A)
c.321+22T>A (n.321+22T>A)
c.660+22T>A (n.660+22T>A)
 gnomAD v4
Xg.108578010C=CA2450682189COL4A5c.645+23C= (n.645+23C=)
c.321+23C= (n.321+23C=)
c.660+23C= (n.660+23C=)
Xg.108578010C>TCA1136179034COL4A5c.645+23C>T (n.645+23C>T)
c.321+23C>T (n.321+23C>T)
c.660+23C>T (n.660+23C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578014delCA2579675933COL4A5c.645+27del (n.645+27del)
c.321+27del (n.321+27del)
c.660+27del (n.660+27del)
Xg.108578012T>CCA1136179035COL4A5c.645+25T>C (n.645+25T>C)
c.321+25T>C (n.321+25T>C)
c.660+25T>C (n.660+25T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578012T=CA2450682190COL4A5c.645+25T= (n.645+25T=)
c.321+25T= (n.321+25T=)
c.660+25T= (n.660+25T=)
Xg.108578015A=CA2450682191COL4A5c.645+28A= (n.645+28A=)
c.321+28A= (n.321+28A=)
c.660+28A= (n.660+28A=)
Xg.108578015A>TCA10488531COL4A5c.645+28A>T (n.645+28A>T)
c.321+28A>T (n.321+28A>T)
c.660+28A>T (n.660+28A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578019G>ACA2738910245COL4A5c.645+32G>A (n.645+32G>A)
c.321+32G>A (n.321+32G>A)
c.660+32G>A (n.660+32G>A)
 dbSNP
Xg.108578020G>ACA10488532COL4A5c.645+33G>A (n.645+33G>A)
c.321+33G>A (n.321+33G>A)
c.660+33G>A (n.660+33G>A)
 dbSNP ExAC gnomAD v2
Xg.108578020G=CA2450682192COL4A5c.645+33G= (n.645+33G=)
c.321+33G= (n.321+33G=)
c.660+33G= (n.660+33G=)
Xg.108578021T>CCA2741783352COL4A5c.645+34T>C (n.645+34T>C)
c.321+34T>C (n.321+34T>C)
c.660+34T>C (n.660+34T>C)
Xg.108578022G>ACA643749906COL4A5c.645+35G>A (n.645+35G>A)
c.321+35G>A (n.321+35G>A)
c.660+35G>A (n.660+35G>A)
 dbSNP gnomAD v2
Xg.108578022G=CA2450682193COL4A5c.645+35G= (n.645+35G=)
c.321+35G= (n.321+35G=)
c.660+35G= (n.660+35G=)
Xg.108578024G>ACA10488533COL4A5c.645+37G>A (n.645+37G>A)
c.321+37G>A (n.321+37G>A)
c.660+37G>A (n.660+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578024G=CA2450682194COL4A5c.645+37G= (n.645+37G=)
c.321+37G= (n.321+37G=)
c.660+37G= (n.660+37G=)
Xg.108578025G=CA2450682195COL4A5c.645+38G= (n.645+38G=)
c.321+38G= (n.321+38G=)
c.660+38G= (n.660+38G=)
Xg.108578025G>TCA643749908COL4A5c.645+38G>T (n.645+38G>T)
c.321+38G>T (n.321+38G>T)
c.660+38G>T (n.660+38G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578026A=CA2450682196COL4A5c.645+39A= (n.645+39A=)
c.321+39A= (n.321+39A=)
c.660+39A= (n.660+39A=)
Xg.108578026A>TCA643749909COL4A5c.645+39A>T (n.645+39A>T)
c.321+39A>T (n.321+39A>T)
c.660+39A>T (n.660+39A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578030C>TCA658421368COL4A5c.645+43C>T (n.645+43C>T)
c.321+43C>T (n.321+43C>T)
c.660+43C>T (n.660+43C>T)
 gnomAD v4 COSMIC
Xg.108578033T>CCA334180213COL4A5c.646-45T>C (n.646-45T>C)
c.322-45T>C (n.322-45T>C)
c.661-45T>C (n.661-45T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578033T=CA2450682197COL4A5c.646-45T= (n.646-45T=)
c.322-45T= (n.322-45T=)
c.661-45T= (n.661-45T=)
Xg.108578036T>CCA643749910COL4A5c.646-42T>C (n.646-42T>C)
c.322-42T>C (n.322-42T>C)
c.661-42T>C (n.661-42T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578036T=CA2450682198COL4A5c.646-42T= (n.646-42T=)
c.322-42T= (n.322-42T=)
c.661-42T= (n.661-42T=)
Xg.108578038A=CA2450682199COL4A5c.646-40A= (n.646-40A=)
c.322-40A= (n.322-40A=)
c.661-40A= (n.661-40A=)
Xg.108578038A>GCA643749911COL4A5c.646-40A>G (n.646-40A>G)
c.322-40A>G (n.322-40A>G)
c.661-40A>G (n.661-40A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578038dupCA2694412069COL4A5c.646-40dup (n.646-40dup)
c.322-40dup (n.322-40dup)
c.661-40dup (n.661-40dup)
 gnomAD v4
Xg.108578039C=CA2450682200COL4A5c.646-39C= (n.646-39C=)
c.322-39C= (n.322-39C=)
c.661-39C= (n.661-39C=)
Xg.108578039C>TCA334180215COL4A5c.646-39C>T (n.646-39C>T)
c.322-39C>T (n.322-39C>T)
c.661-39C>T (n.661-39C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578040T>CCA10488534COL4A5c.646-38T>C (n.646-38T>C)
c.322-38T>C (n.322-38T>C)
c.661-38T>C (n.661-38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578040T=CA2450682201COL4A5c.646-38T= (n.646-38T=)
c.322-38T= (n.322-38T=)
c.661-38T= (n.661-38T=)
Xg.108578042T>CCA2694412072COL4A5c.646-36T>C (n.646-36T>C)
c.322-36T>C (n.322-36T>C)
c.661-36T>C (n.661-36T>C)
 gnomAD v4
Xg.108578043C>TCA2579675934COL4A5c.646-35C>T (n.646-35C>T)
c.322-35C>T (n.322-35C>T)
c.661-35C>T (n.661-35C>T)
Xg.108578044A>TCA2694412074COL4A5c.646-34A>T (n.646-34A>T)
c.322-34A>T (n.322-34A>T)
c.661-34A>T (n.661-34A>T)
 gnomAD v4

Number of alleles fetched