Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108580551_108580552insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAGCA2822895011COL4A5c.799_800insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG
c.475_476insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG
c.814_815insTGCCTCCTGGACCTCTAGTGCTTAGAATGAAAATGCATGTTCCAGTATTAACATTGATTTCCTTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAG
Xg.108580515delCA2579675970COL4A5c.781-18del (n.781-18del)
c.457-18del (n.457-18del)
c.796-18del (n.796-18del)
 gnomAD v4
Xg.108580515T>CCA2694412565COL4A5c.781-18T>C (n.781-18T>C)
c.457-18T>C (n.457-18T>C)
c.796-18T>C (n.796-18T>C)
 gnomAD v4
Xg.108580516C>ACA2579675971COL4A5c.781-17C>A (n.781-17C>A)
c.457-17C>A (n.457-17C>A)
c.796-17C>A (n.796-17C>A)
 gnomAD v4
Xg.108580516C>TCA2697544683COL4A5c.781-17C>T (n.781-17C>T)
c.457-17C>T (n.457-17C>T)
c.796-17C>T (n.796-17C>T)
 ClinVar
Xg.108580517C>ACA2694412566COL4A5c.781-16C>A (n.781-16C>A)
c.457-16C>A (n.457-16C>A)
c.796-16C>A (n.796-16C>A)
 gnomAD v4
Xg.108580518C>TCA2694412567COL4A5c.781-15C>T (n.781-15C>T)
c.457-15C>T (n.457-15C>T)
c.796-15C>T (n.796-15C>T)
 gnomAD v4
Xg.108580519C>ACA334180608COL4A5c.781-14C>A (n.781-14C>A)
c.457-14C>A (n.457-14C>A)
c.796-14C>A (n.796-14C>A)
 ClinVar dbSNP
Xg.108580519C=CA2450683007COL4A5c.781-14C= (n.781-14C=)
c.457-14C= (n.457-14C=)
c.796-14C= (n.796-14C=)
Xg.108580522C>ACA334180610COL4A5c.781-11C>A (n.781-11C>A)
c.457-11C>A (n.457-11C>A)
c.796-11C>A (n.796-11C>A)
 dbSNP gnomAD v4
Xg.108580522C=CA2450683008COL4A5c.781-11C= (n.781-11C=)
c.457-11C= (n.457-11C=)
c.796-11C= (n.796-11C=)
Xg.108580524A>TCA2694412568COL4A5c.781-9A>T (n.781-9A>T)
c.457-9A>T (n.457-9A>T)
c.796-9A>T (n.796-9A>T)
 gnomAD v4
Xg.108580525C>GCA2580100188COL4A5c.781-8C>G (n.781-8C>G)
c.457-8C>G (n.457-8C>G)
c.796-8C>G (n.796-8C>G)
 ClinVar
Xg.108580526T>ACA2695235190COL4A5c.781-7T>A (n.781-7T>A)
c.457-7T>A (n.457-7T>A)
c.796-7T>A (n.796-7T>A)
Xg.108580527G>ACA2694412569COL4A5c.781-6G>A (n.781-6G>A)
c.457-6G>A (n.457-6G>A)
c.796-6G>A (n.796-6G>A)
 ClinVar gnomAD v4
Xg.108580528C>ACA2694412570COL4A5c.781-5C>A (n.781-5C>A)
c.457-5C>A (n.457-5C>A)
c.796-5C>A (n.796-5C>A)
 gnomAD v4
Xg.108580529A=CA2450683009COL4A5c.781-4A= (n.781-4A=)
c.457-4A= (n.457-4A=)
c.796-4A= (n.796-4A=)
Xg.108580529A>GCA2697544684COL4A5c.781-4A>G (n.781-4A>G)
c.457-4A>G (n.457-4A>G)
c.796-4A>G (n.796-4A>G)
 ClinVar
Xg.108580529A>TCA2450683010COL4A5c.781-4A>T (n.781-4A>T)
c.457-4A>T (n.457-4A>T)
c.796-4A>T (n.796-4A>T)
 dbSNP
Xg.108580530T>CCA2694412571COL4A5c.781-3T>C (n.781-3T>C)
c.457-3T>C (n.457-3T>C)
c.796-3T>C (n.796-3T>C)
 gnomAD v4
Xg.108580531A=CA2450683012COL4A5c.781-2A= (n.781-2A=)
c.457-2A= (n.457-2A=)
c.796-2A= (n.796-2A=)
Xg.108580531A>CCA413925466COL4A5c.781-2A>C (n.781-2A>C)
c.457-2A>C (n.457-2A>C)
c.796-2A>C (n.796-2A>C)
Xg.108580531A>GCA413925486COL4A5c.781-2A>G (n.781-2A>G)
c.457-2A>G (n.457-2A>G)
c.796-2A>G (n.796-2A>G)
 ClinVar dbSNP
Xg.108580531A>TCA413925471COL4A5c.781-2A>T (n.781-2A>T)
c.457-2A>T (n.457-2A>T)
c.796-2A>T (n.796-2A>T)
 dbSNP gnomAD v4
Xg.108580531_108580532delinsAGCA2450683013COL4A5c.781-2_781-1delinsAG (n.781-2_781-1delinsAG)
c.457-2_457-1delinsAG (n.457-2_457-1delinsAG)
c.796-2_796-1delinsAG (n.796-2_796-1delinsAG)
Xg.108580531_108580538delinsAGGGACTTCA2450683011COL4A5c.781-2_786delinsAGGGACTT
c.457-2_462delinsAGGGACTT
c.796-2_801delinsAGGGACTT
Xg.108580532G>ACA413925490COL4A5c.781-1G>A (n.781-1G>A)
c.457-1G>A (n.457-1G>A)
c.796-1G>A (n.796-1G>A)
 ClinVar dbSNP
Xg.108580532G>CCA413925509COL4A5c.781-1G>C (n.781-1G>C)
c.457-1G>C (n.457-1G>C)
c.796-1G>C (n.796-1G>C)
Xg.108580532G=CA2450683014COL4A5c.781-1G= (n.781-1G=)
c.457-1G= (n.457-1G=)
c.796-1G= (n.796-1G=)
Xg.108580532G>TCA413925514COL4A5c.781-1G>T (n.781-1G>T)
c.457-1G>T (n.457-1G>T)
c.796-1G>T (n.796-1G>T)
Xg.108580534delCA334180613COL4A5c.782del
c.458del
c.797del
 dbSNP
Xg.108580532_108580538delCA258322COL4A5c.781-1_786del
c.457-1_462del
c.796-1_801del
 dbSNP
Xg.108580533G>ACA413925526COL4A5c.781G>A (p.Gly261Arg)
c.457G>A (p.Gly153Arg)
c.796G>A (p.Gly266Arg)
Xg.108580533G>CCA413925517COL4A5c.781G>C (p.Gly261Arg)
c.457G>C (p.Gly153Arg)
c.796G>C (p.Gly266Arg)
 dbSNP
Xg.108580533G=CA2450683015COL4A5c.781G= (p.Gly261=)
c.457G= (p.Gly153=)
c.796G= (p.Gly266=)
Xg.108580533G>TCA413925521COL4A5c.781G>T (p.Gly261Ter)
c.457G>T (p.Gly153Ter)
c.796G>T (p.Gly266Ter)
Xg.108580534G>ACA413925528COL4A5c.782G>A (p.Gly261Glu)
c.458G>A (p.Gly153Glu)
c.797G>A (p.Gly266Glu)
 ClinVar dbSNP
Xg.108580534G>CCA413925530COL4A5c.782G>C (p.Gly261Ala)
c.458G>C (p.Gly153Ala)
c.797G>C (p.Gly266Ala)
Xg.108580534G>TCA413925534COL4A5c.782G>T (p.Gly261Val)
c.458G>T (p.Gly153Val)
c.797G>T (p.Gly266Val)
Xg.108580535A>CCA517991826COL4A5c.783A>C (p.Gly261=)
c.459A>C (p.Gly153=)
c.798A>C (p.Gly266=)
Xg.108580535A>GCA517991827COL4A5c.783A>G (p.Gly261=)
c.459A>G (p.Gly153=)
c.798A>G (p.Gly266=)
Xg.108580535A>TCA517991828COL4A5c.783A>T (p.Gly261=)
c.459A>T (p.Gly153=)
c.798A>T (p.Gly266=)
Xg.108580536C>ACA413925538COL4A5c.784C>A (p.Leu262Ile)
c.460C>A (p.Leu154Ile)
c.799C>A (p.Leu267Ile)
Xg.108580536C>GCA413925549COL4A5c.784C>G (p.Leu262Val)
c.460C>G (p.Leu154Val)
c.799C>G (p.Leu267Val)
Xg.108580536C>TCA413925554COL4A5c.784C>T (p.Leu262Phe)
c.460C>T (p.Leu154Phe)
c.799C>T (p.Leu267Phe)
Xg.108580537T>ACA413925557COL4A5c.785T>A (p.Leu262His)
c.461T>A (p.Leu154His)
c.800T>A (p.Leu267His)
 COSMIC COSMIC
Xg.108580537T>CCA413925558COL4A5c.785T>C (p.Leu262Pro)
c.461T>C (p.Leu154Pro)
c.800T>C (p.Leu267Pro)
Xg.108580537T>GCA413925559COL4A5c.785T>G (p.Leu262Arg)
c.461T>G (p.Leu154Arg)
c.800T>G (p.Leu267Arg)
Xg.108580538T>ACA517991829COL4A5c.786T>A (p.Leu262=)
c.462T>A (p.Leu154=)
c.801T>A (p.Leu267=)
Xg.108580538T>CCA517991830COL4A5c.786T>C (p.Leu262=)
c.462T>C (p.Leu154=)
c.801T>C (p.Leu267=)
Xg.108580538T>GCA517991831COL4A5c.786T>G (p.Leu262=)
c.462T>G (p.Leu154=)
c.801T>G (p.Leu267=)
Xg.108580538T=CA2450683017COL4A5c.786T= (p.Leu262=)
c.462T= (p.Leu154=)
c.801T= (p.Leu267=)
Xg.108580538_108580539delinsTCCA2450683016COL4A5c.786_787delinsTC (p.Leu262=)
c.462_463delinsTC (p.Leu154=)
c.801_802delinsTC (p.Leu267=)
Xg.108580538_108580539insACA334180615COL4A5c.786_787insA (p.Pro263ThrfsTer3)
c.462_463insA (p.Pro155ThrfsTer3)
c.801_802insA (p.Pro268ThrfsTer3)
 dbSNP
Xg.108580539C>ACA413925566COL4A5c.787C>A (p.Pro263Thr)
c.463C>A (p.Pro155Thr)
c.802C>A (p.Pro268Thr)
Xg.108580539C>GCA413925562COL4A5c.787C>G (p.Pro263Ala)
c.463C>G (p.Pro155Ala)
c.802C>G (p.Pro268Ala)
Xg.108580539C>TCA413925565COL4A5c.787C>T (p.Pro263Ser)
c.463C>T (p.Pro155Ser)
c.802C>T (p.Pro268Ser)
 gnomAD v3 gnomAD v4
Xg.108580540delCA261050COL4A5c.788del (p.Pro263LeufsTer?)
c.464del (p.Pro155LeufsTer?)
c.803del (p.Pro268LeufsTer?)
 dbSNP
Xg.108580540C>ACA413925568COL4A5c.788C>A (p.Pro263His)
c.464C>A (p.Pro155His)
c.803C>A (p.Pro268His)
Xg.108580540C>GCA413925570COL4A5c.788C>G (p.Pro263Arg)
c.464C>G (p.Pro155Arg)
c.803C>G (p.Pro268Arg)
Xg.108580540C>TCA413925574COL4A5c.788C>T (p.Pro263Leu)
c.464C>T (p.Pro155Leu)
c.803C>T (p.Pro268Leu)
Xg.108580541T>ACA517991832COL4A5c.789T>A (p.Pro263=)
c.465T>A (p.Pro155=)
c.804T>A (p.Pro268=)
Xg.108580541T>CCA517991833COL4A5c.789T>C (p.Pro263=)
c.465T>C (p.Pro155=)
c.804T>C (p.Pro268=)
Xg.108580541T>GCA517991834COL4A5c.789T>G (p.Pro263=)
c.465T>G (p.Pro155=)
c.804T>G (p.Pro268=)
Xg.108580542G>ACA413925582COL4A5c.790G>A (p.Gly264Ser)
c.466G>A (p.Gly156Ser)
c.805G>A (p.Gly269Ser)
Xg.108580542G>CCA258323COL4A5c.790G>C (p.Gly264Arg)
c.466G>C (p.Gly156Arg)
c.805G>C (p.Gly269Arg)
 dbSNP
Xg.108580542G=CA2450683018COL4A5c.790G= (p.Gly264=)
c.466G= (p.Gly156=)
c.805G= (p.Gly269=)
Xg.108580542G>TCA413925597COL4A5c.790G>T (p.Gly264Cys)
c.466G>T (p.Gly156Cys)
c.805G>T (p.Gly269Cys)
Xg.108580543G>ACA258325COL4A5c.791G>A (p.Gly264Asp)
c.467G>A (p.Gly156Asp)
c.806G>A (p.Gly269Asp)
 dbSNP
Xg.108580543G>CCA413925601COL4A5c.791G>C (p.Gly264Ala)
c.467G>C (p.Gly156Ala)
c.806G>C (p.Gly269Ala)
Xg.108580543G=CA2450683019COL4A5c.791G= (p.Gly264=)
c.467G= (p.Gly156=)
c.806G= (p.Gly269=)
Xg.108580543G>TCA413925603COL4A5c.791G>T (p.Gly264Val)
c.467G>T (p.Gly156Val)
c.806G>T (p.Gly269Val)
 COSMIC COSMIC
Xg.108580544T>ACA517991835COL4A5c.792T>A (p.Gly264=)
c.468T>A (p.Gly156=)
c.807T>A (p.Gly269=)
Xg.108580544T>CCA517991837COL4A5c.792T>C (p.Gly264=)
c.468T>C (p.Gly156=)
c.807T>C (p.Gly269=)
Xg.108580544T>GCA517991836COL4A5c.792T>G (p.Gly264=)
c.468T>G (p.Gly156=)
c.807T>G (p.Gly269=)
Xg.108580545G>ACA413925611COL4A5c.793G>A (p.Asp265Asn)
c.469G>A (p.Asp157Asn)
c.808G>A (p.Asp270Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580545G>CCA413925609COL4A5c.793G>C (p.Asp265His)
c.469G>C (p.Asp157His)
c.808G>C (p.Asp270His)
Xg.108580545G=CA2450683020COL4A5c.793G= (p.Asp265=)
c.469G= (p.Asp157=)
c.808G= (p.Asp270=)
Xg.108580545G>TCA413925607COL4A5c.793G>T (p.Asp265Tyr)
c.469G>T (p.Asp157Tyr)
c.808G>T (p.Asp270Tyr)
 gnomAD v4
Xg.108580546A>CCA413925613COL4A5c.794A>C (p.Asp265Ala)
c.470A>C (p.Asp157Ala)
c.809A>C (p.Asp270Ala)
Xg.108580546A>GCA413925615COL4A5c.794A>G (p.Asp265Gly)
c.470A>G (p.Asp157Gly)
c.809A>G (p.Asp270Gly)
Xg.108580546A>TCA413925620COL4A5c.794A>T (p.Asp265Val)
c.470A>T (p.Asp157Val)
c.809A>T (p.Asp270Val)
Xg.108580547C>ACA413925623COL4A5c.795C>A (p.Asp265Glu)
c.471C>A (p.Asp157Glu)
c.810C>A (p.Asp270Glu)
Xg.108580547C>GCA413925625COL4A5c.795C>G (p.Asp265Glu)
c.471C>G (p.Asp157Glu)
c.810C>G (p.Asp270Glu)
Xg.108580547C>TCA517991838COL4A5c.795C>T (p.Asp265=)
c.471C>T (p.Asp157=)
c.810C>T (p.Asp270=)
Xg.108580548C>ACA517991839COL4A5c.796C>A (p.Arg266=)
c.472C>A (p.Arg158=)
c.811C>A (p.Arg271=)
Xg.108580548C=CA2450683021COL4A5c.796C= (p.Arg266=)
c.472C= (p.Arg158=)
c.811C= (p.Arg271=)
Xg.108580548C>GCA10488571COL4A5c.796C>G (p.Arg266Gly)
c.472C>G (p.Arg158Gly)
c.811C>G (p.Arg271Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580548C>TCA258328COL4A5c.796C>T (p.Arg266Ter)
c.472C>T (p.Arg158Ter)
c.811C>T (p.Arg271Ter)
 ClinVar dbSNP
Xg.108580549G>ACA10488572COL4A5c.797G>A (p.Arg266Gln)
c.473G>A (p.Arg158Gln)
c.812G>A (p.Arg271Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580549G>CCA413925640COL4A5c.797G>C (p.Arg266Pro)
c.473G>C (p.Arg158Pro)
c.812G>C (p.Arg271Pro)
Xg.108580549G=CA2450683022COL4A5c.797G= (p.Arg266=)
c.473G= (p.Arg158=)
c.812G= (p.Arg271=)
Xg.108580549G>TCA413925642COL4A5c.797G>T (p.Arg266Leu)
c.473G>T (p.Arg158Leu)
c.812G>T (p.Arg271Leu)
Xg.108580550A=CA2450683023COL4A5c.798A= (p.Arg266=)
c.474A= (p.Arg158=)
c.813A= (p.Arg271=)
Xg.108580550A>CCA517991840COL4A5c.798A>C (p.Arg266=)
c.474A>C (p.Arg158=)
c.813A>C (p.Arg271=)
Xg.108580550A>GCA517991842COL4A5c.798A>G (p.Arg266=)
c.474A>G (p.Arg158=)
c.813A>G (p.Arg271=)
Xg.108580550A>TCA517991841COL4A5c.798A>T (p.Arg266=)
c.474A>T (p.Arg158=)
c.813A>T (p.Arg271=)
Xg.108580551G>ACA413925644COL4A5c.799G>A (p.Gly267Arg)
c.475G>A (p.Gly159Arg)
c.814G>A (p.Gly272Arg)
 ClinVar dbSNP
Xg.108580551G>CCA413925646COL4A5c.799G>C (p.Gly267Arg)
c.475G>C (p.Gly159Arg)
c.814G>C (p.Gly272Arg)
 ClinVar dbSNP
Xg.108580551G=CA2450683024COL4A5c.799G= (p.Gly267=)
c.475G= (p.Gly159=)
c.814G= (p.Gly272=)
Xg.108580551G>TCA413925650COL4A5c.799G>T (p.Gly267Trp)
c.475G>T (p.Gly159Trp)
c.814G>T (p.Gly272Trp)
Xg.108580553dupCA891843913COL4A5c.801dup (p.Pro268AlafsTer17)
c.477dup (p.Pro160AlafsTer17)
c.816dup (p.Pro273AlafsTer17)
Xg.108580552G>ACA413925657COL4A5c.800G>A (p.Gly267Glu)
c.476G>A (p.Gly159Glu)
c.815G>A (p.Gly272Glu)
Xg.108580552G>CCA413925665COL4A5c.800G>C (p.Gly267Ala)
c.476G>C (p.Gly159Ala)
c.815G>C (p.Gly272Ala)
Xg.108580552G=CA2450683025COL4A5c.800G= (p.Gly267=)
c.476G= (p.Gly159=)
c.815G= (p.Gly272=)
Xg.108580552G>TCA413925659COL4A5c.800G>T (p.Gly267Val)
c.476G>T (p.Gly159Val)
c.815G>T (p.Gly272Val)
 ClinVar dbSNP
Xg.108580553G>ACA517991843COL4A5c.801G>A (p.Gly267=)
c.477G>A (p.Gly159=)
c.816G>A (p.Gly272=)
 gnomAD v4
Xg.108580553G>CCA517991844COL4A5c.801G>C (p.Gly267=)
c.477G>C (p.Gly159=)
c.816G>C (p.Gly272=)
Xg.108580553G>TCA517991845COL4A5c.801G>T (p.Gly267=)
c.477G>T (p.Gly159=)
c.816G>T (p.Gly272=)
Xg.108580554C>ACA413925669COL4A5c.802C>A (p.Pro268Thr)
c.478C>A (p.Pro160Thr)
c.817C>A (p.Pro273Thr)
Xg.108580554C>GCA413925671COL4A5c.802C>G (p.Pro268Ala)
c.478C>G (p.Pro160Ala)
c.817C>G (p.Pro273Ala)
Xg.108580554C>TCA413925672COL4A5c.802C>T (p.Pro268Ser)
c.478C>T (p.Pro160Ser)
c.817C>T (p.Pro273Ser)
Xg.108580555C>ACA413925673COL4A5c.803C>A (p.Pro268His)
c.479C>A (p.Pro160His)
c.818C>A (p.Pro273His)
Xg.108580555C>GCA413925676COL4A5c.803C>G (p.Pro268Arg)
c.479C>G (p.Pro160Arg)
c.818C>G (p.Pro273Arg)
Xg.108580555C>TCA413925682COL4A5c.803C>T (p.Pro268Leu)
c.479C>T (p.Pro160Leu)
c.818C>T (p.Pro273Leu)
Xg.108580556T>ACA517991846COL4A5c.804T>A (p.Pro268=)
c.480T>A (p.Pro160=)
c.819T>A (p.Pro273=)
Xg.108580556T>CCA517991847COL4A5c.804T>C (p.Pro268=)
c.480T>C (p.Pro160=)
c.819T>C (p.Pro273=)
Xg.108580556T>GCA517991848COL4A5c.804T>G (p.Pro268=)
c.480T>G (p.Pro160=)
c.819T>G (p.Pro273=)
Xg.108580557C>ACA413925689COL4A5c.805C>A (p.Pro269Thr)
c.481C>A (p.Pro161Thr)
c.820C>A (p.Pro274Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108580557C=CA2450683026COL4A5c.805C= (p.Pro269=)
c.481C= (p.Pro161=)
c.820C= (p.Pro274=)
Xg.108580557C>GCA413925693COL4A5c.805C>G (p.Pro269Ala)
c.481C>G (p.Pro161Ala)
c.820C>G (p.Pro274Ala)
 gnomAD v4
Xg.108580557C>TCA413925698COL4A5c.805C>T (p.Pro269Ser)
c.481C>T (p.Pro161Ser)
c.820C>T (p.Pro274Ser)
Xg.108580558C>ACA413925710COL4A5c.806C>A (p.Pro269His)
c.482C>A (p.Pro161His)
c.821C>A (p.Pro274His)
Xg.108580558C>GCA413925709COL4A5c.806C>G (p.Pro269Arg)
c.482C>G (p.Pro161Arg)
c.821C>G (p.Pro274Arg)
Xg.108580558C>TCA413925705COL4A5c.806C>T (p.Pro269Leu)
c.482C>T (p.Pro161Leu)
c.821C>T (p.Pro274Leu)
Xg.108580559T>ACA517991851COL4A5c.807T>A (p.Pro269=)
c.483T>A (p.Pro161=)
c.822T>A (p.Pro274=)
Xg.108580559T>CCA517991850COL4A5c.807T>C (p.Pro269=)
c.483T>C (p.Pro161=)
c.822T>C (p.Pro274=)
Xg.108580559T>GCA517991849COL4A5c.807T>G (p.Pro269=)
c.483T>G (p.Pro161=)
c.822T>G (p.Pro274=)
Xg.108580560G>ACA413925713COL4A5c.808G>A (p.Gly270Arg)
c.484G>A (p.Gly162Arg)
c.823G>A (p.Gly275Arg)
 ClinVar dbSNP
Xg.108580560G>CCA413925717COL4A5c.808G>C (p.Gly270Arg)
c.484G>C (p.Gly162Arg)
c.823G>C (p.Gly275Arg)
Xg.108580560G=CA2450683027COL4A5c.808G= (p.Gly270=)
c.484G= (p.Gly162=)
c.823G= (p.Gly275=)
Xg.108580560G>TCA413925714COL4A5c.808G>T (p.Gly270Ter)
c.484G>T (p.Gly162Ter)
c.823G>T (p.Gly275Ter)
Xg.108580561G>ACA413925720COL4A5c.809G>A (p.Gly270Glu)
c.485G>A (p.Gly162Glu)
c.824G>A (p.Gly275Glu)
Xg.108580561G>CCA413925724COL4A5c.809G>C (p.Gly270Ala)
c.485G>C (p.Gly162Ala)
c.824G>C (p.Gly275Ala)
Xg.108580561G>TCA413925729COL4A5c.809G>T (p.Gly270Val)
c.485G>T (p.Gly162Val)
c.824G>T (p.Gly275Val)
Xg.108580562A>CCA517991852COL4A5c.810A>C (p.Gly270=)
c.486A>C (p.Gly162=)
c.825A>C (p.Gly275=)
Xg.108580562A>GCA517991853COL4A5c.810A>G (p.Gly270=)
c.486A>G (p.Gly162=)
c.825A>G (p.Gly275=)
Xg.108580562A>TCA517991854COL4A5c.810A>T (p.Gly270=)
c.486A>T (p.Gly162=)
c.825A>T (p.Gly275=)
 gnomAD v4
Xg.108580562_108580563delinsACCA2450683028COL4A5c.810_811delinsAC (p.Gly270=)
c.486_487delinsAC (p.Gly162=)
c.825_826delinsAC (p.Gly275=)
Xg.108580563C>ACA413925736COL4A5c.811C>A (p.Pro271Thr)
c.487C>A (p.Pro163Thr)
c.826C>A (p.Pro276Thr)
Xg.108580563C>GCA413925740COL4A5c.811C>G (p.Pro271Ala)
c.487C>G (p.Pro163Ala)
c.826C>G (p.Pro276Ala)
Xg.108580563C>TCA413925745COL4A5c.811C>T (p.Pro271Ser)
c.487C>T (p.Pro163Ser)
c.826C>T (p.Pro276Ser)
 gnomAD v4
Xg.108580564delCA258331COL4A5c.812del (p.Pro271LeufsTer?)
c.488del (p.Pro163LeufsTer?)
c.827del (p.Pro276LeufsTer?)
 dbSNP
Xg.108580564C>ACA413925750COL4A5c.812C>A (p.Pro271His)
c.488C>A (p.Pro163His)
c.827C>A (p.Pro276His)
 gnomAD v4
Xg.108580564C>GCA413925754COL4A5c.812C>G (p.Pro271Arg)
c.488C>G (p.Pro163Arg)
c.827C>G (p.Pro276Arg)
 ClinVar dbSNP gnomAD v4
Xg.108580564C>TCA413925756COL4A5c.812C>T (p.Pro271Leu)
c.488C>T (p.Pro163Leu)
c.827C>T (p.Pro276Leu)
Xg.108580565T>ACA517991855COL4A5c.813T>A (p.Pro271=)
c.489T>A (p.Pro163=)
c.828T>A (p.Pro276=)
Xg.108580565T>CCA517991856COL4A5c.813T>C (p.Pro271=)
c.489T>C (p.Pro163=)
c.828T>C (p.Pro276=)
Xg.108580565T>GCA517991857COL4A5c.813T>G (p.Pro271=)
c.489T>G (p.Pro163=)
c.828T>G (p.Pro276=)
Xg.108580566C>ACA413925769COL4A5c.814C>A (p.Pro272Thr)
c.490C>A (p.Pro164Thr)
c.829C>A (p.Pro277Thr)
Xg.108580566C>GCA413925773COL4A5c.814C>G (p.Pro272Ala)
c.490C>G (p.Pro164Ala)
c.829C>G (p.Pro277Ala)
Xg.108580566C>TCA413925775COL4A5c.814C>T (p.Pro272Ser)
c.490C>T (p.Pro164Ser)
c.829C>T (p.Pro277Ser)
 gnomAD v4
Xg.108580567C>ACA413925788COL4A5c.815C>A (p.Pro272Gln)
c.491C>A (p.Pro164Gln)
c.830C>A (p.Pro277Gln)
Xg.108580567C>GCA413925805COL4A5c.815C>G (p.Pro272Arg)
c.491C>G (p.Pro164Arg)
c.830C>G (p.Pro277Arg)
Xg.108580567C>TCA413925802COL4A5c.815C>T (p.Pro272Leu)
c.491C>T (p.Pro164Leu)
c.830C>T (p.Pro277Leu)
Xg.108580568A>CCA517991860COL4A5c.816A>C (p.Pro272=)
c.492A>C (p.Pro164=)
c.831A>C (p.Pro277=)
Xg.108580568A>GCA517991859COL4A5c.816A>G (p.Pro272=)
c.492A>G (p.Pro164=)
c.831A>G (p.Pro277=)
 ClinVar
Xg.108580568A>TCA517991858COL4A5c.816A>T (p.Pro272=)
c.492A>T (p.Pro164=)
c.831A>T (p.Pro277=)
Xg.108580569G>ACA413925811COL4A5c.817G>A (p.Gly273Arg)
c.493G>A (p.Gly165Arg)
c.832G>A (p.Gly278Arg)
 ClinVar
Xg.108580569G>CCA413925813COL4A5c.817G>C (p.Gly273Arg)
c.493G>C (p.Gly165Arg)
c.832G>C (p.Gly278Arg)
Xg.108580569G>TCA413925816COL4A5c.817G>T (p.Gly273Trp)
c.493G>T (p.Gly165Trp)
c.832G>T (p.Gly278Trp)
Xg.108580570G>ACA413925819COL4A5c.818G>A (p.Gly273Glu)
c.494G>A (p.Gly165Glu)
c.833G>A (p.Gly278Glu)
 ClinVar dbSNP gnomAD v4
Xg.108580570G>CCA413925820COL4A5c.818G>C (p.Gly273Ala)
c.494G>C (p.Gly165Ala)
c.833G>C (p.Gly278Ala)
Xg.108580570G>TCA413925825COL4A5c.818G>T (p.Gly273Val)
c.494G>T (p.Gly165Val)
c.833G>T (p.Gly278Val)
Xg.108580571G>ACA334180624COL4A5c.819G>A (p.Gly273=)
c.495G>A (p.Gly165=)
c.834G>A (p.Gly278=)
 dbSNP
Xg.108580571G>CCA517991861COL4A5c.819G>C (p.Gly273=)
c.495G>C (p.Gly165=)
c.834G>C (p.Gly278=)
Xg.108580571G=CA2450683029COL4A5c.819G= (p.Gly273=)
c.495G= (p.Gly165=)
c.834G= (p.Gly278=)
Xg.108580571G>TCA517991862COL4A5c.819G>T (p.Gly273=)
c.495G>T (p.Gly165=)
c.834G>T (p.Gly278=)
 ClinVar
Xg.108580572A>CCA413925826COL4A5c.820A>C (p.Ile274Leu)
c.496A>C (p.Ile166Leu)
c.835A>C (p.Ile279Leu)
Xg.108580572A>GCA413925828COL4A5c.820A>G (p.Ile274Val)
c.496A>G (p.Ile166Val)
c.835A>G (p.Ile279Val)
 COSMIC COSMIC
Xg.108580572A>TCA413925831COL4A5c.820A>T (p.Ile274Leu)
c.496A>T (p.Ile166Leu)
c.835A>T (p.Ile279Leu)
Xg.108580573T>ACA413925843COL4A5c.821T>A (p.Ile274Lys)
c.497T>A (p.Ile166Lys)
c.836T>A (p.Ile279Lys)
Xg.108580573T>CCA413925836COL4A5c.821T>C (p.Ile274Thr)
c.497T>C (p.Ile166Thr)
c.836T>C (p.Ile279Thr)
Xg.108580573T>GCA413925834COL4A5c.821T>G (p.Ile274Arg)
c.497T>G (p.Ile166Arg)
c.836T>G (p.Ile279Arg)
Xg.108580574A>CCA517991863COL4A5c.822A>C (p.Ile274=)
c.498A>C (p.Ile166=)
c.837A>C (p.Ile279=)
Xg.108580574A>GCA413925846COL4A5c.822A>G (p.Ile274Met)
c.498A>G (p.Ile166Met)
c.837A>G (p.Ile279Met)
Xg.108580574A>TCA517991864COL4A5c.822A>T (p.Ile274=)
c.498A>T (p.Ile166=)
c.837A>T (p.Ile279=)
Xg.108580575C>ACA413925849COL4A5c.823C>A (p.Arg275Ser)
c.499C>A (p.Arg167Ser)
c.838C>A (p.Arg280Ser)
Xg.108580575C=CA2450683030COL4A5c.823C= (p.Arg275=)
c.499C= (p.Arg167=)
c.838C= (p.Arg280=)
Xg.108580575C>GCA413925852COL4A5c.823C>G (p.Arg275Gly)
c.499C>G (p.Arg167Gly)
c.838C>G (p.Arg280Gly)
Xg.108580575C>TCA10488573COL4A5c.823C>T (p.Arg275Cys)
c.499C>T (p.Arg167Cys)
c.838C>T (p.Arg280Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108580576G>ACA10488574COL4A5c.824G>A (p.Arg275His)
c.500G>A (p.Arg167His)
c.839G>A (p.Arg280His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580576G>CCA413925858COL4A5c.824G>C (p.Arg275Pro)
c.500G>C (p.Arg167Pro)
c.839G>C (p.Arg280Pro)
Xg.108580576G=CA2450683031COL4A5c.824G= (p.Arg275=)
c.500G= (p.Arg167=)
c.839G= (p.Arg280=)
Xg.108580576G>TCA413925860COL4A5c.824G>T (p.Arg275Leu)
c.500G>T (p.Arg167Leu)
c.839G>T (p.Arg280Leu)
 gnomAD v4
Xg.108580577T>ACA517991865COL4A5c.825T>A (p.Arg275=)
c.501T>A (p.Arg167=)
c.840T>A (p.Arg280=)
Xg.108580577T>CCA517991866COL4A5c.825T>C (p.Arg275=)
c.501T>C (p.Arg167=)
c.840T>C (p.Arg280=)
Xg.108580577T>GCA517991867COL4A5c.825T>G (p.Arg275=)
c.501T>G (p.Arg167=)
c.840T>G (p.Arg280=)
Xg.108580578G>ACA413925864COL4A5c.826G>A (p.Gly276Ser)
c.502G>A (p.Gly168Ser)
c.841G>A (p.Gly281Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108580578G>CCA413925865COL4A5c.826G>C (p.Gly276Arg)
c.502G>C (p.Gly168Arg)
c.841G>C (p.Gly281Arg)
Xg.108580578G=CA2450683032COL4A5c.826G= (p.Gly276=)
c.502G= (p.Gly168=)
c.841G= (p.Gly281=)
Xg.108580578G>TCA413925866COL4A5c.826G>T (p.Gly276Cys)
c.502G>T (p.Gly168Cys)
c.841G>T (p.Gly281Cys)
Xg.108580579delCA2579675972COL4A5c.827del (p.Gly276ValfsTer?)
c.503del (p.Gly168ValfsTer?)
c.842del (p.Gly281ValfsTer?)
Xg.108580579G>ACA413925867COL4A5c.827G>A (p.Gly276Asp)
c.503G>A (p.Gly168Asp)
c.842G>A (p.Gly281Asp)
Xg.108580579G>CCA413925869COL4A5c.827G>C (p.Gly276Ala)
c.503G>C (p.Gly168Ala)
c.842G>C (p.Gly281Ala)
Xg.108580579G>TCA413925870COL4A5c.827G>T (p.Gly276Val)
c.503G>T (p.Gly168Val)
c.842G>T (p.Gly281Val)
 ClinVar
Xg.108580580T>ACA517991868COL4A5c.828T>A (p.Gly276=)
c.504T>A (p.Gly168=)
c.843T>A (p.Gly281=)
Xg.108580580T>CCA517991869COL4A5c.828T>C (p.Gly276=)
c.504T>C (p.Gly168=)
c.843T>C (p.Gly281=)
Xg.108580580T>GCA517991870COL4A5c.828T>G (p.Gly276=)
c.504T>G (p.Gly168=)
c.843T>G (p.Gly281=)
Xg.108580581C>ACA413925877COL4A5c.829C>A (p.Pro277Thr)
c.505C>A (p.Pro169Thr)
c.844C>A (p.Pro282Thr)
Xg.108580581C=CA2450683033COL4A5c.829C= (p.Pro277=)
c.505C= (p.Pro169=)
c.844C= (p.Pro282=)
Xg.108580581C>GCA413925872COL4A5c.829C>G (p.Pro277Ala)
c.505C>G (p.Pro169Ala)
c.844C>G (p.Pro282Ala)
Xg.108580581C>TCA10488575COL4A5c.829C>T (p.Pro277Ser)
c.505C>T (p.Pro169Ser)
c.844C>T (p.Pro282Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580582C>ACA413925881COL4A5c.830C>A (p.Pro277His)
c.506C>A (p.Pro169His)
c.845C>A (p.Pro282His)
Xg.108580582C=CA2450683034COL4A5c.830C= (p.Pro277=)
c.506C= (p.Pro169=)
c.845C= (p.Pro282=)
Xg.108580582C>GCA413925885COL4A5c.830C>G (p.Pro277Arg)
c.506C>G (p.Pro169Arg)
c.845C>G (p.Pro282Arg)
Xg.108580582C>TCA334180629COL4A5c.830C>T (p.Pro277Leu)
c.506C>T (p.Pro169Leu)
c.845C>T (p.Pro282Leu)
 ClinVar dbSNP gnomAD v4
Xg.108580583T>ACA517991873COL4A5c.831T>A (p.Pro277=)
c.507T>A (p.Pro169=)
c.846T>A (p.Pro282=)
Xg.108580583T>CCA517991871COL4A5c.831T>C (p.Pro277=)
c.507T>C (p.Pro169=)
c.846T>C (p.Pro282=)
 gnomAD v4
Xg.108580583T>GCA517991872COL4A5c.831T>G (p.Pro277=)
c.507T>G (p.Pro169=)
c.846T>G (p.Pro282=)
Xg.108580584C>ACA413925890COL4A5c.832C>A (p.Pro278Thr)
c.508C>A (p.Pro170Thr)
c.847C>A (p.Pro283Thr)
Xg.108580584C>GCA413925891COL4A5c.832C>G (p.Pro278Ala)
c.508C>G (p.Pro170Ala)
c.847C>G (p.Pro283Ala)
Xg.108580584C>TCA413925893COL4A5c.832C>T (p.Pro278Ser)
c.508C>T (p.Pro170Ser)
c.847C>T (p.Pro283Ser)
Xg.108580585C>ACA413925895COL4A5c.833C>A (p.Pro278Gln)
c.509C>A (p.Pro170Gln)
c.848C>A (p.Pro283Gln)
Xg.108580585C=CA2450683035COL4A5c.833C= (p.Pro278=)
c.509C= (p.Pro170=)
c.848C= (p.Pro283=)
Xg.108580585C>GCA413925897COL4A5c.833C>G (p.Pro278Arg)
c.509C>G (p.Pro170Arg)
c.848C>G (p.Pro283Arg)
Xg.108580585C>TCA10488576COL4A5c.833C>T (p.Pro278Leu)
c.509C>T (p.Pro170Leu)
c.848C>T (p.Pro283Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580585_108580586delinsCACA2450683036COL4A5c.833_834delinsCA (p.Pro278=)
c.509_510delinsCA (p.Pro170=)
c.848_849delinsCA (p.Pro283=)
Xg.108580586delCA1139667752COL4A5c.834del (p.Gly279ValfsTer?)
c.510del (p.Gly171ValfsTer?)
c.849del (p.Gly284ValfsTer?)
 ClinVar dbSNP
Xg.108580586A>CCA517991874COL4A5c.834A>C (p.Pro278=)
c.510A>C (p.Pro170=)
c.849A>C (p.Pro283=)
Xg.108580586A>GCA517991875COL4A5c.834A>G (p.Pro278=)
c.510A>G (p.Pro170=)
c.849A>G (p.Pro283=)
Xg.108580586A>TCA517991876COL4A5c.834A>T (p.Pro278=)
c.510A>T (p.Pro170=)
c.849A>T (p.Pro283=)
Xg.108580587G>ACA258332COL4A5c.834+1G>A (n.834+1G>A)
c.510+1G>A (n.510+1G>A)
c.849+1G>A (n.849+1G>A)
 ClinVar dbSNP
Xg.108580587G>CCA413925899COL4A5c.834+1G>C (n.834+1G>C)
c.510+1G>C (n.510+1G>C)
c.849+1G>C (n.849+1G>C)
 ClinVar dbSNP
Xg.108580587G=CA2450683037COL4A5c.834+1G= (n.834+1G=)
c.510+1G= (n.510+1G=)
c.849+1G= (n.849+1G=)
Xg.108580587G>TCA413925901COL4A5c.834+1G>T (n.834+1G>T)
c.510+1G>T (n.510+1G>T)
c.849+1G>T (n.849+1G>T)
 ClinVar
Xg.108580588T>ACA413925909COL4A5c.834+2T>A (n.834+2T>A)
c.510+2T>A (n.510+2T>A)
c.849+2T>A (n.849+2T>A)
Xg.108580588T>CCA413925911COL4A5c.834+2T>C (n.834+2T>C)
c.510+2T>C (n.510+2T>C)
c.849+2T>C (n.849+2T>C)
Xg.108580588T>GCA413925906COL4A5c.834+2T>G (n.834+2T>G)
c.510+2T>G (n.510+2T>G)
c.849+2T>G (n.849+2T>G)
 ClinVar dbSNP
Xg.108580588T=CA2450683038COL4A5c.834+2T= (n.834+2T=)
c.510+2T= (n.510+2T=)
c.849+2T= (n.849+2T=)
Xg.108580589A=CA2450683039COL4A5c.834+3A= (n.834+3A=)
c.510+3A= (n.510+3A=)
c.849+3A= (n.849+3A=)
Xg.108580589A>GCA869793884COL4A5c.834+3A>G (n.834+3A>G)
c.510+3A>G (n.510+3A>G)
c.849+3A>G (n.849+3A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108580591G>ACA891843914COL4A5c.834+5G>A (n.834+5G>A)
c.510+5G>A (n.510+5G>A)
c.849+5G>A (n.849+5G>A)
Xg.108580591G=CA2450683040COL4A5c.834+5G= (n.834+5G=)
c.510+5G= (n.510+5G=)
c.849+5G= (n.849+5G=)
Xg.108580591G>TCA258333COL4A5c.834+5G>T (n.834+5G>T)
c.510+5G>T (n.510+5G>T)
c.849+5G>T (n.849+5G>T)
 dbSNP
Xg.108580592T=CA2450683041COL4A5c.834+6T= (n.834+6T=)
c.510+6T= (n.510+6T=)
c.849+6T= (n.849+6T=)
Xg.108580593dupCA2450683042COL4A5c.834+7dup (n.834+7dup)
c.510+7dup (n.510+7dup)
c.849+7dup (n.849+7dup)
 dbSNP
Xg.108580594C>ACA10488577COL4A5c.834+8C>A (n.834+8C>A)
c.510+8C>A (n.510+8C>A)
c.849+8C>A (n.849+8C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580594C=CA2450683043COL4A5c.834+8C= (n.834+8C=)
c.510+8C= (n.510+8C=)
c.849+8C= (n.849+8C=)
Xg.108580594C>GCA2694412581COL4A5c.834+8C>G (n.834+8C>G)
c.510+8C>G (n.510+8C>G)
c.849+8C>G (n.849+8C>G)
 gnomAD v4
Xg.108580595C>TCA517991877COL4A5c.834+9C>T (n.834+9C>T)
c.510+9C>T (n.510+9C>T)
c.849+9C>T (n.849+9C>T)
 COSMIC
Xg.108580597A=CA2450683044COL4A5c.834+11A= (n.834+11A=)
c.510+11A= (n.510+11A=)
c.849+11A= (n.849+11A=)
Xg.108580597A>GCA10488578COL4A5c.834+11A>G (n.834+11A>G)
c.510+11A>G (n.510+11A>G)
c.849+11A>G (n.849+11A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108580599A=CA2450683045COL4A5c.834+13A= (n.834+13A=)
c.510+13A= (n.510+13A=)
c.849+13A= (n.849+13A=)
Xg.108580599A>GCA517991878COL4A5c.834+13A>G (n.834+13A>G)
c.510+13A>G (n.510+13A>G)
c.849+13A>G (n.849+13A>G)
 ClinVar dbSNP gnomAD v4
Xg.108580600G>ACA10488579COL4A5c.834+14G>A (n.834+14G>A)
c.510+14G>A (n.510+14G>A)
c.849+14G>A (n.849+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580600G=CA2450683046COL4A5c.834+14G= (n.834+14G=)
c.510+14G= (n.510+14G=)
c.849+14G= (n.849+14G=)
Xg.108580602G>TCA2694412591COL4A5c.834+16G>T (n.834+16G>T)
c.510+16G>T (n.510+16G>T)
c.849+16G>T (n.849+16G>T)
 gnomAD v4
Xg.108580603C>ACA2579675973COL4A5c.834+17C>A (n.834+17C>A)
c.510+17C>A (n.510+17C>A)
c.849+17C>A (n.849+17C>A)
Xg.108580604T>CCA2694412593COL4A5c.834+18T>C (n.834+18T>C)
c.510+18T>C (n.510+18T>C)
c.849+18T>C (n.849+18T>C)
 gnomAD v4
Xg.108580606delCA2579675974COL4A5c.834+20del (n.834+20del)
c.510+20del (n.510+20del)
c.849+20del (n.849+20del)
Xg.108580606T>CCA2579675975COL4A5c.834+20T>C (n.834+20T>C)
c.510+20T>C (n.510+20T>C)
c.849+20T>C (n.849+20T>C)
 gnomAD v4
Xg.108580607A>GCA2694412596COL4A5c.834+21A>G (n.834+21A>G)
c.510+21A>G (n.510+21A>G)
c.849+21A>G (n.849+21A>G)
 gnomAD v4
Xg.108580613A>CCA2694412598COL4A5c.834+27A>C (n.834+27A>C)
c.510+27A>C (n.510+27A>C)
c.849+27A>C (n.849+27A>C)
 gnomAD v4
Xg.108580616delCA2579675976COL4A5c.834+30del (n.834+30del)
c.510+30del (n.510+30del)
c.849+30del (n.849+30del)
Xg.108580615T>GCA2694412600COL4A5c.834+29T>G (n.834+29T>G)
c.510+29T>G (n.510+29T>G)
c.849+29T>G (n.849+29T>G)
 gnomAD v4

Number of alleles fetched