Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108578070C>TCA2579675937COL4A5c.646-8C>T (n.646-8C>T)
c.322-8C>T (n.322-8C>T)
c.661-8C>T (n.661-8C>T)
Xg.108578072C=CA2450682212COL4A5c.646-6C= (n.646-6C=)
c.322-6C= (n.322-6C=)
c.661-6C= (n.661-6C=)
Xg.108578072C>GCA643749921COL4A5c.646-6C>G (n.646-6C>G)
c.322-6C>G (n.322-6C>G)
c.661-6C>G (n.661-6C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108578072C>TCA10488536COL4A5c.646-6C>T (n.646-6C>T)
c.322-6C>T (n.322-6C>T)
c.661-6C>T (n.661-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578074C=CA2450682213COL4A5c.646-4C= (n.646-4C=)
c.322-4C= (n.322-4C=)
c.661-4C= (n.661-4C=)
Xg.108578074C>GCA2450682214COL4A5c.646-4C>G (n.646-4C>G)
c.322-4C>G (n.322-4C>G)
c.661-4C>G (n.661-4C>G)
 dbSNP
Xg.108578074C>TCA2499226299COL4A5c.646-4C>T (n.646-4C>T)
c.322-4C>T (n.322-4C>T)
c.661-4C>T (n.661-4C>T)
 ClinVar dbSNP
Xg.108578075C>ACA258300COL4A5c.646-3C>A (n.646-3C>A)
c.322-3C>A (n.322-3C>A)
c.661-3C>A (n.661-3C>A)
 dbSNP
Xg.108578075C=CA2450682215COL4A5c.646-3C= (n.646-3C=)
c.322-3C= (n.322-3C=)
c.661-3C= (n.661-3C=)
Xg.108578076A=CA2450682216COL4A5c.646-2A= (n.646-2A=)
c.322-2A= (n.322-2A=)
c.661-2A= (n.661-2A=)
Xg.108578076A>CCA413923411COL4A5c.646-2A>C (n.646-2A>C)
c.322-2A>C (n.322-2A>C)
c.661-2A>C (n.661-2A>C)
Xg.108578076A>GCA413923404COL4A5c.646-2A>G (n.646-2A>G)
c.322-2A>G (n.322-2A>G)
c.661-2A>G (n.661-2A>G)
 ClinVar
Xg.108578076A>TCA413923384COL4A5c.646-2A>T (n.646-2A>T)
c.322-2A>T (n.322-2A>T)
c.661-2A>T (n.661-2A>T)
Xg.108578077G>ACA413923419COL4A5c.646-1G>A (n.646-1G>A)
c.322-1G>A (n.322-1G>A)
c.661-1G>A (n.661-1G>A)
Xg.108578077G>CCA413923430COL4A5c.646-1G>C (n.646-1G>C)
c.322-1G>C (n.322-1G>C)
c.661-1G>C (n.661-1G>C)
Xg.108578077G>TCA413923431COL4A5c.646-1G>T (n.646-1G>T)
c.322-1G>T (n.322-1G>T)
c.661-1G>T (n.661-1G>T)
Xg.108578080dupCA258307COL4A5c.648dup
c.324dup
c.663dup
 dbSNP
Xg.108578079_108578080dupCA258306COL4A5c.647_648dup
c.323_324dup
c.662_663dup
 dbSNP
Xg.108578078G>ACA258301COL4A5c.646G>A (p.Gly216Arg)
c.322G>A (p.Gly108Arg)
c.661G>A (p.Gly221Arg)
 ClinVar dbSNP
Xg.108578078G>CCA413923434COL4A5c.646G>C (p.Gly216Arg)
c.322G>C (p.Gly108Arg)
c.661G>C (p.Gly221Arg)
Xg.108578078G=CA2450682217COL4A5c.646G= (p.Gly216=)
c.322G= (p.Gly108=)
c.661G= (p.Gly221=)
Xg.108578078G>TCA413923438COL4A5c.646G>T (p.Gly216Trp)
c.322G>T (p.Gly108Trp)
c.661G>T (p.Gly221Trp)
Xg.108578081_108578088delCA2695235187COL4A5c.649_656del (p.Asn217LeufsTer9)
c.325_332del (p.Asn109LeufsTer9)
c.664_671del (p.Asn222LeufsTer9)
Xg.108578079G>ACA413923445COL4A5c.647G>A (p.Gly216Glu)
c.323G>A (p.Gly108Glu)
c.662G>A (p.Gly221Glu)
 ClinVar dbSNP COSMIC COSMIC
Xg.108578079G>CCA413923455COL4A5c.647G>C (p.Gly216Ala)
c.323G>C (p.Gly108Ala)
c.662G>C (p.Gly221Ala)
Xg.108578079G=CA2450682218COL4A5c.647G= (p.Gly216=)
c.323G= (p.Gly108=)
c.662G= (p.Gly221=)
Xg.108578079G>TCA258303COL4A5c.647G>T (p.Gly216Val)
c.323G>T (p.Gly108Val)
c.662G>T (p.Gly221Val)
 dbSNP
Xg.108578080G>ACA517991746COL4A5c.648G>A (p.Gly216=)
c.324G>A (p.Gly108=)
c.663G>A (p.Gly221=)
Xg.108578080G>CCA10488537COL4A5c.648G>C (p.Gly216=)
c.324G>C (p.Gly108=)
c.663G>C (p.Gly221=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578080G=CA2450682219COL4A5c.648G= (p.Gly216=)
c.324G= (p.Gly108=)
c.663G= (p.Gly221=)
Xg.108578080G>TCA517991747COL4A5c.648G>T (p.Gly216=)
c.324G>T (p.Gly108=)
c.663G>T (p.Gly221=)
Xg.108578081A>CCA413923470COL4A5c.649A>C (p.Asn217His)
c.325A>C (p.Asn109His)
c.664A>C (p.Asn222His)
Xg.108578081A>GCA413923471COL4A5c.649A>G (p.Asn217Asp)
c.325A>G (p.Asn109Asp)
c.664A>G (p.Asn222Asp)
Xg.108578081A>TCA413923472COL4A5c.649A>T (p.Asn217Tyr)
c.325A>T (p.Asn109Tyr)
c.664A>T (p.Asn222Tyr)
 gnomAD v4
Xg.108578082A=CA2450682220COL4A5c.650A= (p.Asn217=)
c.326A= (p.Asn109=)
c.665A= (p.Asn222=)
Xg.108578082A>CCA413923479COL4A5c.650A>C (p.Asn217Thr)
c.326A>C (p.Asn109Thr)
c.665A>C (p.Asn222Thr)
Xg.108578082A>GCA10488538COL4A5c.650A>G (p.Asn217Ser)
c.326A>G (p.Asn109Ser)
c.665A>G (p.Asn222Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578082A>TCA413923475COL4A5c.650A>T (p.Asn217Ile)
c.326A>T (p.Asn109Ile)
c.665A>T (p.Asn222Ile)
 gnomAD v4
Xg.108578083T>ACA413923490COL4A5c.651T>A (p.Asn217Lys)
c.327T>A (p.Asn109Lys)
c.666T>A (p.Asn222Lys)
Xg.108578083T>CCA517991748COL4A5c.651T>C (p.Asn217=)
c.327T>C (p.Asn109=)
c.666T>C (p.Asn222=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578083T>GCA413923491COL4A5c.651T>G (p.Asn217Lys)
c.327T>G (p.Asn109Lys)
c.666T>G (p.Asn222Lys)
Xg.108578083T=CA2450682221COL4A5c.651T= (p.Asn217=)
c.327T= (p.Asn109=)
c.666T= (p.Asn222=)
Xg.108578084A>CCA413923493COL4A5c.652A>C (p.Met218Leu)
c.328A>C (p.Met110Leu)
c.667A>C (p.Met223Leu)
Xg.108578084A>GCA413923495COL4A5c.652A>G (p.Met218Val)
c.328A>G (p.Met110Val)
c.667A>G (p.Met223Val)
Xg.108578084A>TCA413923518COL4A5c.652A>T (p.Met218Leu)
c.328A>T (p.Met110Leu)
c.667A>T (p.Met223Leu)
Xg.108578085T>ACA413923522COL4A5c.653T>A (p.Met218Lys)
c.329T>A (p.Met110Lys)
c.668T>A (p.Met223Lys)
Xg.108578085T>CCA413923523COL4A5c.653T>C (p.Met218Thr)
c.329T>C (p.Met110Thr)
c.668T>C (p.Met223Thr)
Xg.108578085T>GCA413923524COL4A5c.653T>G (p.Met218Arg)
c.329T>G (p.Met110Arg)
c.668T>G (p.Met223Arg)
Xg.108578086G>ACA413923525COL4A5c.654G>A (p.Met218Ile)
c.330G>A (p.Met110Ile)
c.669G>A (p.Met223Ile)
 gnomAD v4
Xg.108578086G>CCA413923528COL4A5c.654G>C (p.Met218Ile)
c.330G>C (p.Met110Ile)
c.669G>C (p.Met223Ile)
Xg.108578086G>TCA413923536COL4A5c.654G>T (p.Met218Ile)
c.330G>T (p.Met110Ile)
c.669G>T (p.Met223Ile)
Xg.108578087G>ACA258308COL4A5c.655G>A (p.Gly219Ser)
c.331G>A (p.Gly111Ser)
c.670G>A (p.Gly224Ser)
 ClinVar dbSNP
Xg.108578087G>CCA413923557COL4A5c.655G>C (p.Gly219Arg)
c.331G>C (p.Gly111Arg)
c.670G>C (p.Gly224Arg)
Xg.108578087G=CA2450682222COL4A5c.655G= (p.Gly219=)
c.331G= (p.Gly111=)
c.670G= (p.Gly224=)
Xg.108578087G>TCA413923540COL4A5c.655G>T (p.Gly219Cys)
c.331G>T (p.Gly111Cys)
c.670G>T (p.Gly224Cys)
Xg.108578088G>ACA413923568COL4A5c.656G>A (p.Gly219Asp)
c.332G>A (p.Gly111Asp)
c.671G>A (p.Gly224Asp)
Xg.108578088G>CCA413923569COL4A5c.656G>C (p.Gly219Ala)
c.332G>C (p.Gly111Ala)
c.671G>C (p.Gly224Ala)
Xg.108578088G>TCA413923570COL4A5c.656G>T (p.Gly219Val)
c.332G>T (p.Gly111Val)
c.671G>T (p.Gly224Val)
Xg.108578089C>ACA517991749COL4A5c.657C>A (p.Gly219=)
c.333C>A (p.Gly111=)
c.672C>A (p.Gly224=)
 gnomAD v4
Xg.108578089C>GCA517991750COL4A5c.657C>G (p.Gly219=)
c.333C>G (p.Gly111=)
c.672C>G (p.Gly224=)
Xg.108578089C>TCA517991751COL4A5c.657C>T (p.Gly219=)
c.333C>T (p.Gly111=)
c.672C>T (p.Gly224=)
Xg.108578090T>ACA413923571COL4A5c.658T>A (p.Leu220Ile)
c.334T>A (p.Leu112Ile)
c.673T>A (p.Leu225Ile)
Xg.108578090T>CCA517991752COL4A5c.658T>C (p.Leu220=)
c.334T>C (p.Leu112=)
c.673T>C (p.Leu225=)
Xg.108578090T>GCA413923572COL4A5c.658T>G (p.Leu220Val)
c.334T>G (p.Leu112Val)
c.673T>G (p.Leu225Val)
Xg.108578091T>ACA413923574COL4A5c.659T>A (p.Leu220Ter)
c.335T>A (p.Leu112Ter)
c.674T>A (p.Leu225Ter)
 ClinVar dbSNP
Xg.108578091T>CCA413923575COL4A5c.659T>C (p.Leu220Ser)
c.335T>C (p.Leu112Ser)
c.674T>C (p.Leu225Ser)
Xg.108578091T>GCA413923576COL4A5c.659T>G (p.Leu220Ter)
c.335T>G (p.Leu112Ter)
c.674T>G (p.Leu225Ter)
 ClinVar dbSNP
Xg.108578091T=CA2450682223COL4A5c.659T= (p.Leu220=)
c.335T= (p.Leu112=)
c.674T= (p.Leu225=)
Xg.108578092A>CCA413923577COL4A5c.660A>C (p.Leu220Phe)
c.336A>C (p.Leu112Phe)
c.675A>C (p.Leu225Phe)
Xg.108578092A>GCA517991753COL4A5c.660A>G (p.Leu220=)
c.336A>G (p.Leu112=)
c.675A>G (p.Leu225=)
Xg.108578092A>TCA413923580COL4A5c.660A>T (p.Leu220Phe)
c.336A>T (p.Leu112Phe)
c.675A>T (p.Leu225Phe)
Xg.108578094delCA2695235188COL4A5c.662del (p.Asn221IlefsTer?)
c.338del (p.Asn113IlefsTer?)
c.677del (p.Asn226IlefsTer?)
Xg.108578093A=CA2450682224COL4A5c.661A= (p.Asn221=)
c.337A= (p.Asn113=)
c.676A= (p.Asn226=)
Xg.108578093A>CCA413923587COL4A5c.661A>C (p.Asn221His)
c.337A>C (p.Asn113His)
c.676A>C (p.Asn226His)
Xg.108578093A>GCA413923591COL4A5c.661A>G (p.Asn221Asp)
c.337A>G (p.Asn113Asp)
c.676A>G (p.Asn226Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578093A>TCA413923598COL4A5c.661A>T (p.Asn221Tyr)
c.337A>T (p.Asn113Tyr)
c.676A>T (p.Asn226Tyr)
Xg.108578094A>CCA413923606COL4A5c.662A>C (p.Asn221Thr)
c.338A>C (p.Asn113Thr)
c.677A>C (p.Asn226Thr)
Xg.108578094A>GCA413923611COL4A5c.662A>G (p.Asn221Ser)
c.338A>G (p.Asn113Ser)
c.677A>G (p.Asn226Ser)
 COSMIC COSMIC
Xg.108578094A>TCA413923601COL4A5c.662A>T (p.Asn221Ile)
c.338A>T (p.Asn113Ile)
c.677A>T (p.Asn226Ile)
Xg.108578095T>ACA413923620COL4A5c.663T>A (p.Asn221Lys)
c.339T>A (p.Asn113Lys)
c.678T>A (p.Asn226Lys)
Xg.108578095T>CCA517991754COL4A5c.663T>C (p.Asn221=)
c.339T>C (p.Asn113=)
c.678T>C (p.Asn226=)
Xg.108578095T>GCA413923622COL4A5c.663T>G (p.Asn221Lys)
c.339T>G (p.Asn113Lys)
c.678T>G (p.Asn226Lys)
Xg.108578096T>ACA413923626COL4A5c.664T>A (p.Phe222Ile)
c.340T>A (p.Phe114Ile)
c.679T>A (p.Phe227Ile)
Xg.108578096T>CCA413923638COL4A5c.664T>C (p.Phe222Leu)
c.340T>C (p.Phe114Leu)
c.679T>C (p.Phe227Leu)
Xg.108578096T>GCA413923631COL4A5c.664T>G (p.Phe222Val)
c.340T>G (p.Phe114Val)
c.679T>G (p.Phe227Val)
Xg.108578097T>ACA413923642COL4A5c.665T>A (p.Phe222Tyr)
c.341T>A (p.Phe114Tyr)
c.680T>A (p.Phe227Tyr)
Xg.108578097T>CCA413923644COL4A5c.665T>C (p.Phe222Ser)
c.341T>C (p.Phe114Ser)
c.680T>C (p.Phe227Ser)
Xg.108578097T>GCA261044COL4A5c.665T>G (p.Phe222Cys)
c.341T>G (p.Phe114Cys)
c.680T>G (p.Phe227Cys)
 ClinVar dbSNP
Xg.108578097T=CA2450682225COL4A5c.665T= (p.Phe222=)
c.341T= (p.Phe114=)
c.680T= (p.Phe227=)
Xg.108578098C>ACA413923646COL4A5c.666C>A (p.Phe222Leu)
c.342C>A (p.Phe114Leu)
c.681C>A (p.Phe227Leu)
Xg.108578098C>GCA413923651COL4A5c.666C>G (p.Phe222Leu)
c.342C>G (p.Phe114Leu)
c.681C>G (p.Phe227Leu)
 gnomAD v4
Xg.108578098C>TCA517991755COL4A5c.666C>T (p.Phe222=)
c.342C>T (p.Phe114=)
c.681C>T (p.Phe227=)
 gnomAD v4 COSMIC COSMIC
Xg.108578099C>ACA413923655COL4A5c.667C>A (p.Gln223Lys)
c.343C>A (p.Gln115Lys)
c.682C>A (p.Gln228Lys)
Xg.108578099C=CA2450682226COL4A5c.667C= (p.Gln223=)
c.343C= (p.Gln115=)
c.682C= (p.Gln228=)
Xg.108578099C>GCA413923663COL4A5c.667C>G (p.Gln223Glu)
c.343C>G (p.Gln115Glu)
c.682C>G (p.Gln228Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578099C>TCA413923669COL4A5c.667C>T (p.Gln223Ter)
c.343C>T (p.Gln115Ter)
c.682C>T (p.Gln228Ter)
Xg.108578100delCA2579675938COL4A5c.668del (p.Gln223ArgfsTer?)
c.344del (p.Gln115ArgfsTer?)
c.683del (p.Gln228ArgfsTer?)
Xg.108578100A>CCA413923671COL4A5c.668A>C (p.Gln223Pro)
c.344A>C (p.Gln115Pro)
c.683A>C (p.Gln228Pro)
Xg.108578100A>GCA413923672COL4A5c.668A>G (p.Gln223Arg)
c.344A>G (p.Gln115Arg)
c.683A>G (p.Gln228Arg)
 gnomAD v4
Xg.108578100A>TCA413923673COL4A5c.668A>T (p.Gln223Leu)
c.344A>T (p.Gln115Leu)
c.683A>T (p.Gln228Leu)
Xg.108578101G>ACA517991756COL4A5c.669G>A (p.Gln223=)
c.345G>A (p.Gln115=)
c.684G>A (p.Gln228=)
Xg.108578101G>CCA413923674COL4A5c.669G>C (p.Gln223His)
c.345G>C (p.Gln115His)
c.684G>C (p.Gln228His)
Xg.108578101G>TCA413923677COL4A5c.669G>T (p.Gln223His)
c.345G>T (p.Gln115His)
c.684G>T (p.Gln228His)
Xg.108578102G>ACA413923680COL4A5c.670G>A (p.Gly224Arg)
c.346G>A (p.Gly116Arg)
c.685G>A (p.Gly229Arg)
 ClinVar dbSNP
Xg.108578102G>CCA413923684COL4A5c.670G>C (p.Gly224Arg)
c.346G>C (p.Gly116Arg)
c.685G>C (p.Gly229Arg)
Xg.108578102G>TCA413923682COL4A5c.670G>T (p.Gly224Ter)
c.346G>T (p.Gly116Ter)
c.685G>T (p.Gly229Ter)
Xg.108578103G>ACA413923691COL4A5c.671G>A (p.Gly224Glu)
c.347G>A (p.Gly116Glu)
c.686G>A (p.Gly229Glu)
Xg.108578103G>CCA413923693COL4A5c.671G>C (p.Gly224Ala)
c.347G>C (p.Gly116Ala)
c.686G>C (p.Gly229Ala)
Xg.108578103G>TCA413923698COL4A5c.671G>T (p.Gly224Val)
c.347G>T (p.Gly116Val)
c.686G>T (p.Gly229Val)
 ClinVar dbSNP
Xg.108578104A>CCA517991758COL4A5c.672A>C (p.Gly224=)
c.348A>C (p.Gly116=)
c.687A>C (p.Gly229=)
Xg.108578104A>GCA517991759COL4A5c.672A>G (p.Gly224=)
c.348A>G (p.Gly116=)
c.687A>G (p.Gly229=)
Xg.108578104A>TCA517991757COL4A5c.672A>T (p.Gly224=)
c.348A>T (p.Gly116=)
c.687A>T (p.Gly229=)
Xg.108578105C>ACA413923710COL4A5c.673C>A (p.Pro225Thr)
c.349C>A (p.Pro117Thr)
c.688C>A (p.Pro230Thr)
Xg.108578105C>GCA413923723COL4A5c.673C>G (p.Pro225Ala)
c.349C>G (p.Pro117Ala)
c.688C>G (p.Pro230Ala)
Xg.108578105C>TCA413923726COL4A5c.673C>T (p.Pro225Ser)
c.349C>T (p.Pro117Ser)
c.688C>T (p.Pro230Ser)
 gnomAD v4
Xg.108578107delCA913184895COL4A5c.675del (p.Gly227ValfsTer27)
c.351del (p.Gly119ValfsTer27)
c.690del (p.Gly232ValfsTer27)
Xg.108578106C>ACA413923729COL4A5c.674C>A (p.Pro225His)
c.350C>A (p.Pro117His)
c.689C>A (p.Pro230His)
Xg.108578106C=CA2450682227COL4A5c.674C= (p.Pro225=)
c.350C= (p.Pro117=)
c.689C= (p.Pro230=)
Xg.108578106C>GCA413923731COL4A5c.674C>G (p.Pro225Arg)
c.350C>G (p.Pro117Arg)
c.689C>G (p.Pro230Arg)
Xg.108578106C>TCA413923740COL4A5c.674C>T (p.Pro225Leu)
c.350C>T (p.Pro117Leu)
c.689C>T (p.Pro230Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108578107C>ACA517991760COL4A5c.675C>A (p.Pro225=)
c.351C>A (p.Pro117=)
c.690C>A (p.Pro230=)
Xg.108578107C>GCA517991761COL4A5c.675C>G (p.Pro225=)
c.351C>G (p.Pro117=)
c.690C>G (p.Pro230=)
Xg.108578107C>TCA517991762COL4A5c.675C>T (p.Pro225=)
c.351C>T (p.Pro117=)
c.690C>T (p.Pro230=)
Xg.108578108A>CCA413923751COL4A5c.676A>C (p.Lys226Gln)
c.352A>C (p.Lys118Gln)
c.691A>C (p.Lys231Gln)
Xg.108578108A>GCA413923748COL4A5c.676A>G (p.Lys226Glu)
c.352A>G (p.Lys118Glu)
c.691A>G (p.Lys231Glu)
Xg.108578108A>TCA413923744COL4A5c.676A>T (p.Lys226Ter)
c.352A>T (p.Lys118Ter)
c.691A>T (p.Lys231Ter)
Xg.108578109A=CA2450682228COL4A5c.677A= (p.Lys226=)
c.353A= (p.Lys118=)
c.692A= (p.Lys231=)
Xg.108578109A>CCA334180231COL4A5c.677A>C (p.Lys226Thr)
c.353A>C (p.Lys118Thr)
c.692A>C (p.Lys231Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108578109A>GCA413923754COL4A5c.677A>G (p.Lys226Arg)
c.353A>G (p.Lys118Arg)
c.692A>G (p.Lys231Arg)
Xg.108578109A>TCA413923760COL4A5c.677A>T (p.Lys226Ile)
c.353A>T (p.Lys118Ile)
c.692A>T (p.Lys231Ile)
Xg.108578110A>CCA413923761COL4A5c.678A>C (p.Lys226Asn)
c.354A>C (p.Lys118Asn)
c.693A>C (p.Lys231Asn)
Xg.108578110A>GCA517991763COL4A5c.678A>G (p.Lys226=)
c.354A>G (p.Lys118=)
c.693A>G (p.Lys231=)
Xg.108578110A>TCA413923766COL4A5c.678A>T (p.Lys226Asn)
c.354A>T (p.Lys118Asn)
c.693A>T (p.Lys231Asn)
Xg.108578111G>ACA413923773COL4A5c.679G>A (p.Gly227Ser)
c.355G>A (p.Gly119Ser)
c.694G>A (p.Gly232Ser)
 ClinVar dbSNP COSMIC
Xg.108578111G>CCA413923770COL4A5c.679G>C (p.Gly227Arg)
c.355G>C (p.Gly119Arg)
c.694G>C (p.Gly232Arg)
Xg.108578111G=CA2450682229COL4A5c.679G= (p.Gly227=)
c.355G= (p.Gly119=)
c.694G= (p.Gly232=)
Xg.108578111G>TCA413923768COL4A5c.679G>T (p.Gly227Cys)
c.355G>T (p.Gly119Cys)
c.694G>T (p.Gly232Cys)
 COSMIC
Xg.108578112G>ACA413923781COL4A5c.680G>A (p.Gly227Asp)
c.356G>A (p.Gly119Asp)
c.695G>A (p.Gly232Asp)
Xg.108578112G>CCA413923795COL4A5c.680G>C (p.Gly227Ala)
c.356G>C (p.Gly119Ala)
c.695G>C (p.Gly232Ala)
Xg.108578112G=CA2450682230COL4A5c.680G= (p.Gly227=)
c.356G= (p.Gly119=)
c.695G= (p.Gly232=)
Xg.108578112G>TCA413923815COL4A5c.680G>T (p.Gly227Val)
c.356G>T (p.Gly119Val)
c.695G>T (p.Gly232Val)
Xg.108578113_108578114delCA2580100184COL4A5c.681_682del (p.Glu228LysfsTer3)
c.357_358del (p.Glu120LysfsTer3)
c.696_697del (p.Glu233LysfsTer3)
 ClinVar
Xg.108578113T>ACA517991764COL4A5c.681T>A (p.Gly227=)
c.357T>A (p.Gly119=)
c.696T>A (p.Gly232=)
 COSMIC COSMIC
Xg.108578113T>CCA517991765COL4A5c.681T>C (p.Gly227=)
c.357T>C (p.Gly119=)
c.696T>C (p.Gly232=)
Xg.108578113T>GCA517991766COL4A5c.681T>G (p.Gly227=)
c.357T>G (p.Gly119=)
c.696T>G (p.Gly232=)
Xg.108578114G>ACA10488539COL4A5c.682G>A (p.Glu228Lys)
c.358G>A (p.Glu120Lys)
c.697G>A (p.Glu233Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578114G>CCA413923825COL4A5c.682G>C (p.Glu228Gln)
c.358G>C (p.Glu120Gln)
c.697G>C (p.Glu233Gln)
Xg.108578114G=CA2450682231COL4A5c.682G= (p.Glu228=)
c.358G= (p.Glu120=)
c.697G= (p.Glu233=)
Xg.108578114G>TCA261047COL4A5c.682G>T (p.Glu228Ter)
c.358G>T (p.Glu120Ter)
c.697G>T (p.Glu233Ter)
 dbSNP
Xg.108578114_108578115delinsGACA2450682232COL4A5c.682_683delinsGA (p.Glu228=)
c.358_359delinsGA (p.Glu120=)
c.697_698delinsGA (p.Glu233=)
Xg.108578115A>CCA413923848COL4A5c.683A>C (p.Glu228Ala)
c.359A>C (p.Glu120Ala)
c.698A>C (p.Glu233Ala)
Xg.108578115A>GCA413923854COL4A5c.683A>G (p.Glu228Gly)
c.359A>G (p.Glu120Gly)
c.698A>G (p.Glu233Gly)
 gnomAD v4
Xg.108578115A>TCA413923851COL4A5c.683A>T (p.Glu228Val)
c.359A>T (p.Glu120Val)
c.698A>T (p.Glu233Val)
Xg.108578119delCA658799835COL4A5c.687del (p.Gly230ValfsTer24)
c.363del (p.Gly122ValfsTer24)
c.702del (p.Gly235ValfsTer24)
 ClinVar dbSNP gnomAD v4
Xg.108578116A>CCA413923875COL4A5c.684A>C (p.Glu228Asp)
c.360A>C (p.Glu120Asp)
c.699A>C (p.Glu233Asp)
Xg.108578116A>GCA517991767COL4A5c.684A>G (p.Glu228=)
c.360A>G (p.Glu120=)
c.699A>G (p.Glu233=)
Xg.108578116A>TCA413923879COL4A5c.684A>T (p.Glu228Asp)
c.360A>T (p.Glu120Asp)
c.699A>T (p.Glu233Asp)
Xg.108578117A>CCA413923883COL4A5c.685A>C (p.Lys229Gln)
c.361A>C (p.Lys121Gln)
c.700A>C (p.Lys234Gln)
Xg.108578117A>GCA413923890COL4A5c.685A>G (p.Lys229Glu)
c.361A>G (p.Lys121Glu)
c.700A>G (p.Lys234Glu)
Xg.108578117A>TCA413923892COL4A5c.685A>T (p.Lys229Ter)
c.361A>T (p.Lys121Ter)
c.700A>T (p.Lys234Ter)
Xg.108578118A>CCA413923901COL4A5c.686A>C (p.Lys229Thr)
c.362A>C (p.Lys121Thr)
c.701A>C (p.Lys234Thr)
Xg.108578118A>GCA413923905COL4A5c.686A>G (p.Lys229Arg)
c.362A>G (p.Lys121Arg)
c.701A>G (p.Lys234Arg)
Xg.108578118A>TCA413923913COL4A5c.686A>T (p.Lys229Ile)
c.362A>T (p.Lys121Ile)
c.701A>T (p.Lys234Ile)
Xg.108578119A>CCA413923917COL4A5c.687A>C (p.Lys229Asn)
c.363A>C (p.Lys121Asn)
c.702A>C (p.Lys234Asn)
Xg.108578119A>GCA517991768COL4A5c.687A>G (p.Lys229=)
c.363A>G (p.Lys121=)
c.702A>G (p.Lys234=)
Xg.108578119A>TCA413923919COL4A5c.687A>T (p.Lys229Asn)
c.363A>T (p.Lys121Asn)
c.702A>T (p.Lys234Asn)
Xg.108578120G>ACA258310COL4A5c.687+1G>A (n.687+1G>A)
c.363+1G>A (n.363+1G>A)
c.702+1G>A (n.702+1G>A)
 ClinVar dbSNP
Xg.108578120G>CCA413923925COL4A5c.687+1G>C (n.687+1G>C)
c.363+1G>C (n.363+1G>C)
c.702+1G>C (n.702+1G>C)
 ClinVar dbSNP
Xg.108578120G=CA2450682233COL4A5c.687+1G= (n.687+1G=)
c.363+1G= (n.363+1G=)
c.702+1G= (n.702+1G=)
Xg.108578120G>TCA413923922COL4A5c.687+1G>T (n.687+1G>T)
c.363+1G>T (n.363+1G>T)
c.702+1G>T (n.702+1G>T)
Xg.108578121T>ACA413923926COL4A5c.687+2T>A (n.687+2T>A)
c.363+2T>A (n.363+2T>A)
c.702+2T>A (n.702+2T>A)
Xg.108578121T>CCA413923928COL4A5c.687+2T>C (n.687+2T>C)
c.363+2T>C (n.363+2T>C)
c.702+2T>C (n.702+2T>C)
Xg.108578121T>GCA413923927COL4A5c.687+2T>G (n.687+2T>G)
c.363+2T>G (n.363+2T>G)
c.702+2T>G (n.702+2T>G)
Xg.108578121T=CA2450682234COL4A5c.687+2T= (n.687+2T=)
c.363+2T= (n.363+2T=)
c.702+2T= (n.702+2T=)
Xg.108578122G>ACA10488540COL4A5c.687+3G>A (n.687+3G>A)
c.363+3G>A (n.363+3G>A)
c.702+3G>A (n.702+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578122G=CA2450682235COL4A5c.687+3G= (n.687+3G=)
c.363+3G= (n.363+3G=)
c.702+3G= (n.702+3G=)
Xg.108578122G>TCA2580650485COL4A5c.687+3G>T (n.687+3G>T)
c.363+3G>T (n.363+3G>T)
c.702+3G>T (n.702+3G>T)
Xg.108578123A>TCA2582342928COL4A5c.687+4A>T (n.687+4A>T)
c.363+4A>T (n.363+4A>T)
c.702+4A>T (n.702+4A>T)
 ClinVar
Xg.108578124G>ACA645372689COL4A5c.687+5G>A (n.687+5G>A)
c.363+5G>A (n.363+5G>A)
c.702+5G>A (n.702+5G>A)
 ClinVar dbSNP
Xg.108578124G=CA2450682236COL4A5c.687+5G= (n.687+5G=)
c.363+5G= (n.363+5G=)
c.702+5G= (n.702+5G=)
Xg.108578127A=CA2450682237COL4A5c.687+8A= (n.687+8A=)
c.363+8A= (n.363+8A=)
c.702+8A= (n.702+8A=)
Xg.108578127A>CCA2450682238COL4A5c.687+8A>C (n.687+8A>C)
c.363+8A>C (n.363+8A>C)
c.702+8A>C (n.702+8A>C)
 dbSNP gnomAD v4
Xg.108578129G>ACA2450682239COL4A5c.687+10G>A (n.687+10G>A)
c.363+10G>A (n.363+10G>A)
c.702+10G>A (n.702+10G>A)
 ClinVar dbSNP
Xg.108578129G=CA2450682240COL4A5c.687+10G= (n.687+10G=)
c.363+10G= (n.363+10G=)
c.702+10G= (n.702+10G=)
Xg.108578130A=CA2450682241COL4A5c.687+11A= (n.687+11A=)
c.363+11A= (n.363+11A=)
c.702+11A= (n.702+11A=)
Xg.108578130A>GCA869820406COL4A5c.687+11A>G (n.687+11A>G)
c.363+11A>G (n.363+11A>G)
c.702+11A>G (n.702+11A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578132A=CA2450682242COL4A5c.687+13A= (n.687+13A=)
c.363+13A= (n.363+13A=)
c.702+13A= (n.702+13A=)
Xg.108578132A>GCA334180235COL4A5c.687+13A>G (n.687+13A>G)
c.363+13A>G (n.363+13A>G)
c.702+13A>G (n.702+13A>G)
 ClinVar dbSNP gnomAD v4
Xg.108578136_108578137delCA2694412169COL4A5c.687+17_687+18del (n.687+17_687+18del)
c.363+17_363+18del (n.363+17_363+18del)
c.702+17_702+18del (n.702+17_702+18del)
 gnomAD v4
Xg.108578134A=CA2450682243COL4A5c.687+15A= (n.687+15A=)
c.363+15A= (n.363+15A=)
c.702+15A= (n.702+15A=)
Xg.108578134A>GCA643749928COL4A5c.687+15A>G (n.687+15A>G)
c.363+15A>G (n.363+15A>G)
c.702+15A>G (n.702+15A>G)
 dbSNP gnomAD v2
Xg.108578135G>ACA2694412174COL4A5c.687+16G>A (n.687+16G>A)
c.363+16G>A (n.363+16G>A)
c.702+16G>A (n.702+16G>A)
 gnomAD v4
Xg.108578135G>CCA10488541COL4A5c.687+16G>C (n.687+16G>C)
c.363+16G>C (n.363+16G>C)
c.702+16G>C (n.702+16G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578135G=CA2450682244COL4A5c.687+16G= (n.687+16G=)
c.363+16G= (n.363+16G=)
c.702+16G= (n.702+16G=)
Xg.108578136A>GCA2694412178COL4A5c.687+17A>G (n.687+17A>G)
c.363+17A>G (n.363+17A>G)
c.702+17A>G (n.702+17A>G)
 gnomAD v4
Xg.108578136_108578137insAACA2450682245COL4A5c.687+17_687+18insAA (n.687+17_687+18insAA)
c.363+17_363+18insAA (n.363+17_363+18insAA)
c.702+17_702+18insAA (n.702+17_702+18insAA)
 dbSNP
Xg.108578138delCA2694412179COL4A5c.687+19del (n.687+19del)
c.363+19del (n.363+19del)
c.702+19del (n.702+19del)
 ClinVar gnomAD v4
Xg.108578138C>ACA10488542COL4A5c.687+19C>A (n.687+19C>A)
c.363+19C>A (n.363+19C>A)
c.702+19C>A (n.702+19C>A)
 dbSNP ExAC gnomAD v2
Xg.108578138C=CA2450682246COL4A5c.687+19C= (n.687+19C=)
c.363+19C= (n.363+19C=)
c.702+19C= (n.702+19C=)
Xg.108578138C>TCA2694412180COL4A5c.687+19C>T (n.687+19C>T)
c.363+19C>T (n.363+19C>T)
c.702+19C>T (n.702+19C>T)
 gnomAD v4
Xg.108578140_108578147delinsGGTTATTCCA2450682247COL4A5c.687+21_687+28delinsGGTTATTC (n.687+21_687+28delinsGGTTATTC)
c.363+21_363+28delinsGGTTATTC (n.363+21_363+28delinsGGTTATTC)
c.702+21_702+28delinsGGTTATTC (n.702+21_702+28delinsGGTTATTC)
Xg.108578141G>ACA2694412181COL4A5c.687+22G>A (n.687+22G>A)
c.363+22G>A (n.363+22G>A)
c.702+22G>A (n.702+22G>A)
 gnomAD v4
Xg.108578141_108578147delCA2450682248COL4A5c.687+22_687+28del (n.687+22_687+28del)
c.363+22_363+28del (n.363+22_363+28del)
c.702+22_702+28del (n.702+22_702+28del)
 dbSNP
Xg.108578142T>CCA2450682250COL4A5c.687+23T>C (n.687+23T>C)
c.363+23T>C (n.363+23T>C)
c.702+23T>C (n.702+23T>C)
 dbSNP
Xg.108578142T=CA2450682249COL4A5c.687+23T= (n.687+23T=)
c.363+23T= (n.363+23T=)
c.702+23T= (n.702+23T=)
Xg.108578146T>CCA2694412182COL4A5c.687+27T>C (n.687+27T>C)
c.363+27T>C (n.363+27T>C)
c.702+27T>C (n.702+27T>C)
 gnomAD v4
Xg.108578148A>TCA2822894574COL4A5c.687+29A>T (n.687+29A>T)
c.363+29A>T (n.363+29A>T)
c.702+29A>T (n.702+29A>T)
Xg.108578149G>ACA2694412185COL4A5c.687+30G>A (n.687+30G>A)
c.363+30G>A (n.363+30G>A)
c.702+30G>A (n.702+30G>A)
 gnomAD v4
Xg.108578149G=CA2450682251COL4A5c.687+30G= (n.687+30G=)
c.363+30G= (n.363+30G=)
c.702+30G= (n.702+30G=)
Xg.108578149G>TCA10488543COL4A5c.687+30G>T (n.687+30G>T)
c.363+30G>T (n.363+30G>T)
c.702+30G>T (n.702+30G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578150C=CA2450682252COL4A5c.687+31C= (n.687+31C=)
c.363+31C= (n.363+31C=)
c.702+31C= (n.702+31C=)
Xg.108578150C>GCA2450682253COL4A5c.687+31C>G (n.687+31C>G)
c.363+31C>G (n.363+31C>G)
c.702+31C>G (n.702+31C>G)
 dbSNP
Xg.108578150C>TCA1136179042COL4A5c.687+31C>T (n.687+31C>T)
c.363+31C>T (n.363+31C>T)
c.702+31C>T (n.702+31C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578151C=CA2450682254COL4A5c.687+32C= (n.687+32C=)
c.363+32C= (n.363+32C=)
c.702+32C= (n.702+32C=)
Xg.108578151C>GCA2450682255COL4A5c.687+32C>G (n.687+32C>G)
c.363+32C>G (n.363+32C>G)
c.702+32C>G (n.702+32C>G)
 dbSNP
Xg.108578152C>ACA2694412186COL4A5c.687+33C>A (n.687+33C>A)
c.363+33C>A (n.363+33C>A)
c.702+33C>A (n.702+33C>A)
 gnomAD v4
Xg.108578153T=CA2450682256COL4A5c.687+34T= (n.687+34T=)
c.363+34T= (n.363+34T=)
c.702+34T= (n.702+34T=)
Xg.108578153_108578154insGAATAACCA2450682257COL4A5c.687+34_687+35insGAATAAC (n.687+34_687+35insGAATAAC)
c.363+34_363+35insGAATAAC (n.363+34_363+35insGAATAAC)
c.702+34_702+35insGAATAAC (n.702+34_702+35insGAATAAC)
 dbSNP
Xg.108578154C>ACA2568588791COL4A5c.687+35C>A (n.687+35C>A)
c.363+35C>A (n.363+35C>A)
c.702+35C>A (n.702+35C>A)
Xg.108578154C=CA2450682258COL4A5c.687+35C= (n.687+35C=)
c.363+35C= (n.363+35C=)
c.702+35C= (n.702+35C=)
Xg.108578154C>TCA643749931COL4A5c.687+35C>T (n.687+35C>T)
c.363+35C>T (n.363+35C>T)
c.702+35C>T (n.702+35C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578156G>TCA2694412187COL4A5c.687+37G>T (n.687+37G>T)
c.363+37G>T (n.363+37G>T)
c.702+37G>T (n.702+37G>T)
 gnomAD v4
Xg.108578157_108578159delinsCTTCA2450682259COL4A5c.687+38_687+40delinsCTT (n.687+38_687+40delinsCTT)
c.363+38_363+40delinsCTT (n.363+38_363+40delinsCTT)
c.702+38_702+40delinsCTT (n.702+38_702+40delinsCTT)
Xg.108578158T>CCA643749932COL4A5c.687+39T>C (n.687+39T>C)
c.363+39T>C (n.363+39T>C)
c.702+39T>C (n.702+39T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578158T=CA2450682261COL4A5c.687+39T= (n.687+39T=)
c.363+39T= (n.363+39T=)
c.702+39T= (n.702+39T=)
Xg.108578159_108578160delCA2450682260COL4A5c.687+40_687+41del (n.687+40_687+41del)
c.363+40_363+41del (n.363+40_363+41del)
c.702+40_702+41del (n.702+40_702+41del)
 dbSNP
Xg.108578159T>CCA2579675939COL4A5c.687+40T>C (n.687+40T>C)
c.363+40T>C (n.363+40T>C)
c.702+40T>C (n.702+40T>C)
Xg.108578159T>GCA334180239COL4A5c.687+40T>G (n.687+40T>G)
c.363+40T>G (n.363+40T>G)
c.702+40T>G (n.702+40T>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578159T=CA2450682262COL4A5c.687+40T= (n.687+40T=)
c.363+40T= (n.363+40T=)
c.702+40T= (n.702+40T=)
Xg.108578160T>CCA2694412189COL4A5c.687+41T>C (n.687+41T>C)
c.363+41T>C (n.363+41T>C)
c.702+41T>C (n.702+41T>C)
 gnomAD v4
Xg.108578161C>GCA2694412190COL4A5c.687+42C>G (n.687+42C>G)
c.363+42C>G (n.363+42C>G)
c.702+42C>G (n.702+42C>G)
 gnomAD v4
Xg.108578162T>CCA2450682264COL4A5c.687+43T>C (n.687+43T>C)
c.363+43T>C (n.363+43T>C)
c.702+43T>C (n.702+43T>C)
 dbSNP gnomAD v4
Xg.108578162T=CA2450682263COL4A5c.687+43T= (n.687+43T=)
c.363+43T= (n.363+43T=)
c.702+43T= (n.702+43T=)
Xg.108578164T>ACA2694412191COL4A5c.687+45T>A (n.687+45T>A)
c.363+45T>A (n.363+45T>A)
c.702+45T>A (n.702+45T>A)
 gnomAD v4
Xg.108578166T>CCA2534022964COL4A5c.687+47T>C (n.687+47T>C)
c.363+47T>C (n.363+47T>C)
c.702+47T>C (n.702+47T>C)
Xg.108578167T>CCA2450682266COL4A5c.687+48T>C (n.687+48T>C)
c.363+48T>C (n.363+48T>C)
c.702+48T>C (n.702+48T>C)
 dbSNP gnomAD v4
Xg.108578167T=CA2450682265COL4A5c.687+48T= (n.687+48T=)
c.363+48T= (n.363+48T=)
c.702+48T= (n.702+48T=)
Xg.108578168T>ACA2579675940COL4A5c.687+49T>A (n.687+49T>A)
c.363+49T>A (n.363+49T>A)
c.702+49T>A (n.702+49T>A)
Xg.108578168T>GCA10488544COL4A5c.687+49T>G (n.687+49T>G)
c.363+49T>G (n.363+49T>G)
c.702+49T>G (n.702+49T>G)
 dbSNP ExAC gnomAD v2
Xg.108578168T=CA2450682267COL4A5c.687+49T= (n.687+49T=)
c.363+49T= (n.363+49T=)
c.702+49T= (n.702+49T=)
Xg.108578169G>ACA10488545COL4A5c.687+50G>A (n.687+50G>A)
c.363+50G>A (n.363+50G>A)
c.702+50G>A (n.702+50G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578169G=CA2450682268COL4A5c.687+50G= (n.687+50G=)
c.363+50G= (n.363+50G=)
c.702+50G= (n.702+50G=)
Xg.108578169G>TCA2450682269COL4A5c.687+50G>T (n.687+50G>T)
c.363+50G>T (n.363+50G>T)
c.702+50G>T (n.702+50G>T)
 dbSNP

Number of alleles fetched