Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108578364_108578365delCA258320COL4A5c.761_762del (p.Glu254ValfsTer11)
c.437_438del (p.Glu146ValfsTer11)
c.776_777del (p.Glu259ValfsTer11)
 ClinVar dbSNP
Xg.108578365G>ACA517991817COL4A5c.762G>A (p.Glu254=)
c.438G>A (p.Glu146=)
c.777G>A (p.Glu259=)
Xg.108578365G>CCA413924498COL4A5c.762G>C (p.Glu254Asp)
c.438G>C (p.Glu146Asp)
c.777G>C (p.Glu259Asp)
Xg.108578365G>TCA413924499COL4A5c.762G>T (p.Glu254Asp)
c.438G>T (p.Glu146Asp)
c.777G>T (p.Glu259Asp)
Xg.108578366T>ACA413924503COL4A5c.763T>A (p.Phe255Ile)
c.439T>A (p.Phe147Ile)
c.778T>A (p.Phe260Ile)
Xg.108578366T>CCA413924505COL4A5c.763T>C (p.Phe255Leu)
c.439T>C (p.Phe147Leu)
c.778T>C (p.Phe260Leu)
Xg.108578366T>GCA413924508COL4A5c.763T>G (p.Phe255Val)
c.439T>G (p.Phe147Val)
c.778T>G (p.Phe260Val)
Xg.108578367T>ACA413924511COL4A5c.764T>A (p.Phe255Tyr)
c.440T>A (p.Phe147Tyr)
c.779T>A (p.Phe260Tyr)
Xg.108578367T>CCA413924516COL4A5c.764T>C (p.Phe255Ser)
c.440T>C (p.Phe147Ser)
c.779T>C (p.Phe260Ser)
Xg.108578367T>GCA413924521COL4A5c.764T>G (p.Phe255Cys)
c.440T>G (p.Phe147Cys)
c.779T>G (p.Phe260Cys)
Xg.108578368T>ACA413924524COL4A5c.765T>A (p.Phe255Leu)
c.441T>A (p.Phe147Leu)
c.780T>A (p.Phe260Leu)
Xg.108578368T>CCA517991818COL4A5c.765T>C (p.Phe255=)
c.441T>C (p.Phe147=)
c.780T>C (p.Phe260=)
Xg.108578368T>GCA413924526COL4A5c.765T>G (p.Phe255Leu)
c.441T>G (p.Phe147Leu)
c.780T>G (p.Phe260Leu)
Xg.108578369C>ACA413924545COL4A5c.766C>A (p.Gln256Lys)
c.442C>A (p.Gln148Lys)
c.781C>A (p.Gln261Lys)
Xg.108578369C>GCA413924539COL4A5c.766C>G (p.Gln256Glu)
c.442C>G (p.Gln148Glu)
c.781C>G (p.Gln261Glu)
Xg.108578369C>TCA413924543COL4A5c.766C>T (p.Gln256Ter)
c.442C>T (p.Gln148Ter)
c.781C>T (p.Gln261Ter)
Xg.108578370A>CCA413924550COL4A5c.767A>C (p.Gln256Pro)
c.443A>C (p.Gln148Pro)
c.782A>C (p.Gln261Pro)
Xg.108578370A>GCA413924552COL4A5c.767A>G (p.Gln256Arg)
c.443A>G (p.Gln148Arg)
c.782A>G (p.Gln261Arg)
 gnomAD v4
Xg.108578370A>TCA413924556COL4A5c.767A>T (p.Gln256Leu)
c.443A>T (p.Gln148Leu)
c.782A>T (p.Gln261Leu)
Xg.108578373_108578379delCA2580612288COL4A5c.770_776del (p.Lys257IlefsTer?)
c.446_452del (p.Lys149IlefsTer?)
c.785_791del (p.Lys262IlefsTer?)
 ClinVar
Xg.108578371G>ACA517991819COL4A5c.768G>A (p.Gln256=)
c.444G>A (p.Gln148=)
c.783G>A (p.Gln261=)
 COSMIC
Xg.108578371G>CCA413924559COL4A5c.768G>C (p.Gln256His)
c.444G>C (p.Gln148His)
c.783G>C (p.Gln261His)
 ClinVar dbSNP
Xg.108578371G>TCA413924563COL4A5c.768G>T (p.Gln256His)
c.444G>T (p.Gln148His)
c.783G>T (p.Gln261His)
 COSMIC COSMIC
Xg.108578372A>CCA413924566COL4A5c.769A>C (p.Lys257Gln)
c.445A>C (p.Lys149Gln)
c.784A>C (p.Lys262Gln)
Xg.108578372A>GCA413924570COL4A5c.769A>G (p.Lys257Glu)
c.445A>G (p.Lys149Glu)
c.784A>G (p.Lys262Glu)
Xg.108578372A>TCA413924573COL4A5c.769A>T (p.Lys257Ter)
c.445A>T (p.Lys149Ter)
c.784A>T (p.Lys262Ter)
Xg.108578373A>CCA413924575COL4A5c.770A>C (p.Lys257Thr)
c.446A>C (p.Lys149Thr)
c.785A>C (p.Lys262Thr)
Xg.108578373A>GCA413924576COL4A5c.770A>G (p.Lys257Arg)
c.446A>G (p.Lys149Arg)
c.785A>G (p.Lys262Arg)
Xg.108578373A>TCA413924580COL4A5c.770A>T (p.Lys257Ile)
c.446A>T (p.Lys149Ile)
c.785A>T (p.Lys262Ile)
Xg.108578374A=CA2450682343COL4A5c.771A= (p.Lys257=)
c.447A= (p.Lys149=)
c.786A= (p.Lys262=)
Xg.108578374A>CCA413924585COL4A5c.771A>C (p.Lys257Asn)
c.447A>C (p.Lys149Asn)
c.786A>C (p.Lys262Asn)
Xg.108578374A>GCA517991820COL4A5c.771A>G (p.Lys257=)
c.447A>G (p.Lys149=)
c.786A>G (p.Lys262=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578374A>TCA413924584COL4A5c.771A>T (p.Lys257Asn)
c.447A>T (p.Lys149Asn)
c.786A>T (p.Lys262Asn)
Xg.108578375G>ACA413924589COL4A5c.772G>A (p.Gly258Arg)
c.448G>A (p.Gly150Arg)
c.787G>A (p.Gly263Arg)
Xg.108578375G>CCA413924591COL4A5c.772G>C (p.Gly258Arg)
c.448G>C (p.Gly150Arg)
c.787G>C (p.Gly263Arg)
Xg.108578375G>TCA413924593COL4A5c.772G>T (p.Gly258Ter)
c.448G>T (p.Gly150Ter)
c.787G>T (p.Gly263Ter)
 COSMIC COSMIC
Xg.108578376G>ACA334180282COL4A5c.773G>A (p.Gly258Glu)
c.449G>A (p.Gly150Glu)
c.788G>A (p.Gly263Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.108578376G>CCA413924599COL4A5c.773G>C (p.Gly258Ala)
c.449G>C (p.Gly150Ala)
c.788G>C (p.Gly263Ala)
Xg.108578376G=CA2450682344COL4A5c.773G= (p.Gly258=)
c.449G= (p.Gly150=)
c.788G= (p.Gly263=)
Xg.108578376G>TCA413924601COL4A5c.773G>T (p.Gly258Val)
c.449G>T (p.Gly150Val)
c.788G>T (p.Gly263Val)
Xg.108578377A>CCA517991821COL4A5c.774A>C (p.Gly258=)
c.450A>C (p.Gly150=)
c.789A>C (p.Gly263=)
Xg.108578377A>GCA517991822COL4A5c.774A>G (p.Gly258=)
c.450A>G (p.Gly150=)
c.789A>G (p.Gly263=)
Xg.108578377A>TCA517991823COL4A5c.774A>T (p.Gly258=)
c.450A>T (p.Gly150=)
c.789A>T (p.Gly263=)
Xg.108578378G>ACA10488560COL4A5c.775G>A (p.Asp259Asn)
c.451G>A (p.Asp151Asn)
c.790G>A (p.Asp264Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578378G>CCA413924603COL4A5c.775G>C (p.Asp259His)
c.451G>C (p.Asp151His)
c.790G>C (p.Asp264His)
 dbSNP gnomAD v2
Xg.108578378G=CA2450682345COL4A5c.775G= (p.Asp259=)
c.451G= (p.Asp151=)
c.790G= (p.Asp264=)
Xg.108578378G>TCA413924606COL4A5c.775G>T (p.Asp259Tyr)
c.451G>T (p.Asp151Tyr)
c.790G>T (p.Asp264Tyr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578379A>CCA413924611COL4A5c.776A>C (p.Asp259Ala)
c.452A>C (p.Asp151Ala)
c.791A>C (p.Asp264Ala)
Xg.108578379A>GCA413924615COL4A5c.776A>G (p.Asp259Gly)
c.452A>G (p.Asp151Gly)
c.791A>G (p.Asp264Gly)
Xg.108578379A>TCA413924617COL4A5c.776A>T (p.Asp259Val)
c.452A>T (p.Asp151Val)
c.791A>T (p.Asp264Val)
Xg.108578380T>ACA413924620COL4A5c.777T>A (p.Asp259Glu)
c.453T>A (p.Asp151Glu)
c.792T>A (p.Asp264Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578380T>CCA517991824COL4A5c.777T>C (p.Asp259=)
c.453T>C (p.Asp151=)
c.792T>C (p.Asp264=)
Xg.108578380T>GCA413924623COL4A5c.777T>G (p.Asp259Glu)
c.453T>G (p.Asp151Glu)
c.792T>G (p.Asp264Glu)
Xg.108578380T=CA2450682346COL4A5c.777T= (p.Asp259=)
c.453T= (p.Asp151=)
c.792T= (p.Asp264=)
Xg.108578381C>ACA413924626COL4A5c.778C>A (p.Gln260Lys)
c.454C>A (p.Gln152Lys)
c.793C>A (p.Gln265Lys)
Xg.108578381C>GCA413924632COL4A5c.778C>G (p.Gln260Glu)
c.454C>G (p.Gln152Glu)
c.793C>G (p.Gln265Glu)
Xg.108578381C>TCA413924630COL4A5c.778C>T (p.Gln260Ter)
c.454C>T (p.Gln152Ter)
c.793C>T (p.Gln265Ter)
 COSMIC
Xg.108578382A=CA2450682347COL4A5c.779A= (p.Gln260=)
c.455A= (p.Gln152=)
c.794A= (p.Gln265=)
Xg.108578382A>CCA413924635COL4A5c.779A>C (p.Gln260Pro)
c.455A>C (p.Gln152Pro)
c.794A>C (p.Gln265Pro)
 ClinVar
Xg.108578382A>GCA10488561COL4A5c.779A>G (p.Gln260Arg)
c.455A>G (p.Gln152Arg)
c.794A>G (p.Gln265Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578382A>TCA413924648COL4A5c.779A>T (p.Gln260Leu)
c.455A>T (p.Gln152Leu)
c.794A>T (p.Gln265Leu)
Xg.108578383G>ACA517991825COL4A5c.780G>A (p.Gln260=)
c.456G>A (p.Gln152=)
c.795G>A (p.Gln265=)
 gnomAD v4
Xg.108578383G>CCA413924651COL4A5c.780G>C (p.Gln260His)
c.456G>C (p.Gln152His)
c.795G>C (p.Gln265His)
Xg.108578383G>TCA413924655COL4A5c.780G>T (p.Gln260His)
c.456G>T (p.Gln152His)
c.795G>T (p.Gln265His)
Xg.108578384G>ACA413924659COL4A5c.780+1G>A (n.780+1G>A)
c.456+1G>A (n.456+1G>A)
c.795+1G>A (n.795+1G>A)
 ClinVar
Xg.108578384G>CCA413924662COL4A5c.780+1G>C (n.780+1G>C)
c.456+1G>C (n.456+1G>C)
c.795+1G>C (n.795+1G>C)
Xg.108578384G=CA2450682348COL4A5c.780+1G= (n.780+1G=)
c.456+1G= (n.456+1G=)
c.795+1G= (n.795+1G=)
Xg.108578384G>TCA10488562COL4A5c.780+1G>T (n.780+1G>T)
c.456+1G>T (n.456+1G>T)
c.795+1G>T (n.795+1G>T)
 dbSNP ExAC gnomAD v2
Xg.108578385T>ACA413924671COL4A5c.780+2T>A (n.780+2T>A)
c.456+2T>A (n.456+2T>A)
c.795+2T>A (n.795+2T>A)
 dbSNP
Xg.108578385T>CCA413924674COL4A5c.780+2T>C (n.780+2T>C)
c.456+2T>C (n.456+2T>C)
c.795+2T>C (n.795+2T>C)
Xg.108578385T>GCA258321COL4A5c.780+2T>G (n.780+2T>G)
c.456+2T>G (n.456+2T>G)
c.795+2T>G (n.795+2T>G)
 dbSNP
Xg.108578385T=CA2450682349COL4A5c.780+2T= (n.780+2T=)
c.456+2T= (n.456+2T=)
c.795+2T= (n.795+2T=)
Xg.108578386G>ACA2694412355COL4A5c.780+3G>A (n.780+3G>A)
c.456+3G>A (n.456+3G>A)
c.795+3G>A (n.795+3G>A)
 gnomAD v4
Xg.108578387A>GCA2694412357COL4A5c.780+4A>G (n.780+4A>G)
c.456+4A>G (n.456+4A>G)
c.795+4A>G (n.795+4A>G)
 gnomAD v4
Xg.108578388G>ACA645608362COL4A5c.780+5G>A (n.780+5G>A)
c.456+5G>A (n.456+5G>A)
c.795+5G>A (n.795+5G>A)
 COSMIC COSMIC
Xg.108578388G=CA2450682350COL4A5c.780+5G= (n.780+5G=)
c.456+5G= (n.456+5G=)
c.795+5G= (n.795+5G=)
Xg.108578389T>ACA2694412358COL4A5c.780+6T>A (n.780+6T>A)
c.456+6T>A (n.456+6T>A)
c.795+6T>A (n.795+6T>A)
 gnomAD v4
Xg.108578390A=CA2450682351COL4A5c.780+7A= (n.780+7A=)
c.456+7A= (n.456+7A=)
c.795+7A= (n.795+7A=)
Xg.108578390A>CCA2579675951COL4A5c.780+7A>C (n.780+7A>C)
c.456+7A>C (n.456+7A>C)
c.795+7A>C (n.795+7A>C)
Xg.108578390A>GCA10488563COL4A5c.780+7A>G (n.780+7A>G)
c.456+7A>G (n.456+7A>G)
c.795+7A>G (n.795+7A>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108578391delCA2694412361COL4A5c.780+8del (n.780+8del)
c.456+8del (n.456+8del)
c.795+8del (n.795+8del)
 gnomAD v4
Xg.108578391A>TCA2694412362COL4A5c.780+8A>T (n.780+8A>T)
c.456+8A>T (n.456+8A>T)
c.795+8A>T (n.795+8A>T)
 gnomAD v4
Xg.108578393T>GCA2499226300COL4A5c.780+10T>G (n.780+10T>G)
c.456+10T>G (n.456+10T>G)
c.795+10T>G (n.795+10T>G)
 ClinVar dbSNP
Xg.108578394A>GCA2694412363COL4A5c.780+11A>G (n.780+11A>G)
c.456+11A>G (n.456+11A>G)
c.795+11A>G (n.795+11A>G)
 gnomAD v4
Xg.108578394A>TCA2694412364COL4A5c.780+11A>T (n.780+11A>T)
c.456+11A>T (n.456+11A>T)
c.795+11A>T (n.795+11A>T)
 gnomAD v4
Xg.108578394_108578395insTCA2579675952COL4A5c.780+11_780+12insT (n.780+11_780+12insT)
c.456+11_456+12insT (n.456+11_456+12insT)
c.795+11_795+12insT (n.795+11_795+12insT)
Xg.108578395G>ACA2694412366COL4A5c.780+12G>A (n.780+12G>A)
c.456+12G>A (n.456+12G>A)
c.795+12G>A (n.795+12G>A)
 gnomAD v4
Xg.108578395G>TCA2579675953COL4A5c.780+12G>T (n.780+12G>T)
c.456+12G>T (n.456+12G>T)
c.795+12G>T (n.795+12G>T)
Xg.108578397G>CCA10488564COL4A5c.780+14G>C (n.780+14G>C)
c.456+14G>C (n.456+14G>C)
c.795+14G>C (n.795+14G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578397G=CA2450682352COL4A5c.780+14G= (n.780+14G=)
c.456+14G= (n.456+14G=)
c.795+14G= (n.795+14G=)
Xg.108578398A>GCA2694412373COL4A5c.780+15A>G (n.780+15A>G)
c.456+15A>G (n.456+15A>G)
c.795+15A>G (n.795+15A>G)
 gnomAD v4
Xg.108578399G>ACA1136179094COL4A5c.780+16G>A (n.780+16G>A)
c.456+16G>A (n.456+16G>A)
c.795+16G>A (n.795+16G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578399G=CA2450682353COL4A5c.780+16G= (n.780+16G=)
c.456+16G= (n.456+16G=)
c.795+16G= (n.795+16G=)
Xg.108578402A>GCA2822894633COL4A5c.780+19A>G (n.780+19A>G)
c.456+19A>G (n.456+19A>G)
c.795+19A>G (n.795+19A>G)
Xg.108578402A>TCA2739273683COL4A5c.780+19A>T (n.780+19A>T)
c.456+19A>T (n.456+19A>T)
c.795+19A>T (n.795+19A>T)
 ClinVar
Xg.108578404T>ACA2579675954COL4A5c.780+21T>A (n.780+21T>A)
c.456+21T>A (n.456+21T>A)
c.795+21T>A (n.795+21T>A)
Xg.108578404T>CCA2694412375COL4A5c.780+21T>C (n.780+21T>C)
c.456+21T>C (n.456+21T>C)
c.795+21T>C (n.795+21T>C)
 gnomAD v4
Xg.108578405C>ACA2579675955COL4A5c.780+22C>A (n.780+22C>A)
c.456+22C>A (n.456+22C>A)
c.795+22C>A (n.795+22C>A)
 gnomAD v4
Xg.108578406A=CA2450682354COL4A5c.780+23A= (n.780+23A=)
c.456+23A= (n.456+23A=)
c.795+23A= (n.795+23A=)
Xg.108578406A>GCA869820412COL4A5c.780+23A>G (n.780+23A>G)
c.456+23A>G (n.456+23A>G)
c.795+23A>G (n.795+23A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578407A=CA2450682355COL4A5c.780+24A= (n.780+24A=)
c.456+24A= (n.456+24A=)
c.795+24A= (n.795+24A=)
Xg.108578407A>GCA10488565COL4A5c.780+24A>G (n.780+24A>G)
c.456+24A>G (n.456+24A>G)
c.795+24A>G (n.795+24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578408T>CCA2694412382COL4A5c.780+25T>C (n.780+25T>C)
c.456+25T>C (n.456+25T>C)
c.795+25T>C (n.795+25T>C)
 gnomAD v4
Xg.108578409G>ACA643749963COL4A5c.780+26G>A (n.780+26G>A)
c.456+26G>A (n.456+26G>A)
c.795+26G>A (n.795+26G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578409G=CA2450682356COL4A5c.780+26G= (n.780+26G=)
c.456+26G= (n.456+26G=)
c.795+26G= (n.795+26G=)
Xg.108578409G>TCA10488566COL4A5c.780+26G>T (n.780+26G>T)
c.456+26G>T (n.456+26G>T)
c.795+26G>T (n.795+26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578413A=CA2450682357COL4A5c.780+30A= (n.780+30A=)
c.456+30A= (n.456+30A=)
c.795+30A= (n.795+30A=)
Xg.108578413A>TCA869820413COL4A5c.780+30A>T (n.780+30A>T)
c.456+30A>T (n.456+30A>T)
c.795+30A>T (n.795+30A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578414T>CCA1136179105COL4A5c.780+31T>C (n.780+31T>C)
c.456+31T>C (n.456+31T>C)
c.795+31T>C (n.795+31T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578414T=CA2450682358COL4A5c.780+31T= (n.780+31T=)
c.456+31T= (n.456+31T=)
c.795+31T= (n.795+31T=)
Xg.108578415C>ACA2694412390COL4A5c.780+32C>A (n.780+32C>A)
c.456+32C>A (n.456+32C>A)
c.795+32C>A (n.795+32C>A)
 gnomAD v4
Xg.108578416T>CCA2579675956COL4A5c.780+33T>C (n.780+33T>C)
c.456+33T>C (n.456+33T>C)
c.795+33T>C (n.795+33T>C)
Xg.108578417T>CCA2694412393COL4A5c.780+34T>C (n.780+34T>C)
c.456+34T>C (n.456+34T>C)
c.795+34T>C (n.795+34T>C)
 gnomAD v4
Xg.108578419_108578429delCA2694412392COL4A5c.780+36_780+46del (n.780+36_780+46del)
c.456+36_456+46del (n.456+36_456+46del)
c.795+36_795+46del (n.795+36_795+46del)
 gnomAD v4
Xg.108578418G>ACA10488567COL4A5c.780+35G>A (n.780+35G>A)
c.456+35G>A (n.456+35G>A)
c.795+35G>A (n.795+35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578418G=CA2450682359COL4A5c.780+35G= (n.780+35G=)
c.456+35G= (n.456+35G=)
c.795+35G= (n.795+35G=)
Xg.108578418G>TCA2694412399COL4A5c.780+35G>T (n.780+35G>T)
c.456+35G>T (n.456+35G>T)
c.795+35G>T (n.795+35G>T)
 gnomAD v4
Xg.108578419C>TCA658421371COL4A5c.780+36C>T (n.780+36C>T)
c.456+36C>T (n.456+36C>T)
c.795+36C>T (n.795+36C>T)
 COSMIC COSMIC
Xg.108578421A=CA2450682360COL4A5c.780+38A= (n.780+38A=)
c.456+38A= (n.456+38A=)
c.795+38A= (n.795+38A=)
Xg.108578421A>CCA2579675957COL4A5c.780+38A>C (n.780+38A>C)
c.456+38A>C (n.456+38A>C)
c.795+38A>C (n.795+38A>C)
Xg.108578421A>GCA1136179110COL4A5c.780+38A>G (n.780+38A>G)
c.456+38A>G (n.456+38A>G)
c.795+38A>G (n.795+38A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578423G>ACA2510454402COL4A5c.780+40G>A (n.780+40G>A)
c.456+40G>A (n.456+40G>A)
c.795+40G>A (n.795+40G>A)
Xg.108578425A>CCA2694412404COL4A5c.780+42A>C (n.780+42A>C)
c.456+42A>C (n.456+42A>C)
c.795+42A>C (n.795+42A>C)
 gnomAD v4
Xg.108578425A>GCA2579675958COL4A5c.780+42A>G (n.780+42A>G)
c.456+42A>G (n.456+42A>G)
c.795+42A>G (n.795+42A>G)
Xg.108578427A>GCA2694412408COL4A5c.780+44A>G (n.780+44A>G)
c.456+44A>G (n.456+44A>G)
c.795+44A>G (n.795+44A>G)
 gnomAD v4
Xg.108578427A>TCA2572270623COL4A5c.780+44A>T (n.780+44A>T)
c.456+44A>T (n.456+44A>T)
c.795+44A>T (n.795+44A>T)
Xg.108578428T>CCA643749964COL4A5c.780+45T>C (n.780+45T>C)
c.456+45T>C (n.456+45T>C)
c.795+45T>C (n.795+45T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578428T=CA2450682361COL4A5c.780+45T= (n.780+45T=)
c.456+45T= (n.456+45T=)
c.795+45T= (n.795+45T=)
Xg.108578429G>ACA2450682364COL4A5c.780+46G>A (n.780+46G>A)
c.456+46G>A (n.456+46G>A)
c.795+46G>A (n.795+46G>A)
 dbSNP
Xg.108578429G=CA2450682363COL4A5c.780+46G= (n.780+46G=)
c.456+46G= (n.456+46G=)
c.795+46G= (n.795+46G=)
Xg.108578429_108578433delinsGTTAACA2450682362COL4A5c.780+46_780+50delinsGTTAA (n.780+46_780+50delinsGTTAA)
c.456+46_456+50delinsGTTAA (n.456+46_456+50delinsGTTAA)
c.795+46_795+50delinsGTTAA (n.795+46_795+50delinsGTTAA)
Xg.108578430T>CCA2738910320COL4A5c.780+47T>C (n.780+47T>C)
c.456+47T>C (n.456+47T>C)
c.795+47T>C (n.795+47T>C)
 dbSNP
Xg.108578433_108578436delCA869820414COL4A5c.780+50_780+53del (n.780+50_780+53del)
c.456+50_456+53del (n.456+50_456+53del)
c.795+50_795+53del (n.795+50_795+53del)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578432A>CCA915909711COL4A5c.780+49A>C (n.780+49A>C)
c.456+49A>C (n.456+49A>C)
c.795+49A>C (n.795+49A>C)
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.108578433delCA2694412414COL4A5c.780+50del (n.780+50del)
c.456+50del (n.456+50del)
c.795+50del (n.795+50del)
 gnomAD v4
Xg.108578435T>ACA2694412416COL4A5c.780+52T>A (n.780+52T>A)
c.456+52T>A (n.456+52T>A)
c.795+52T>A (n.795+52T>A)
 gnomAD v4
Xg.108578447_108578449delCA2694412418COL4A5c.780+64_780+66del (n.780+64_780+66del)
c.456+64_456+66del (n.456+64_456+66del)
c.795+64_795+66del (n.795+64_795+66del)
 gnomAD v4
Xg.108578445G>ACA869820415COL4A5c.780+62G>A (n.780+62G>A)
c.456+62G>A (n.456+62G>A)
c.795+62G>A (n.795+62G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578445G=CA2450682365COL4A5c.780+62G= (n.780+62G=)
c.456+62G= (n.456+62G=)
c.795+62G= (n.795+62G=)
Xg.108578446T>ACA2579675960COL4A5c.780+63T>A (n.780+63T>A)
c.456+63T>A (n.456+63T>A)
c.795+63T>A (n.795+63T>A)
Xg.108578446T>GCA2579675959COL4A5c.780+63T>G (n.780+63T>G)
c.456+63T>G (n.456+63T>G)
c.795+63T>G (n.795+63T>G)
Xg.108578447G>ACA334180292COL4A5c.780+64G>A (n.780+64G>A)
c.456+64G>A (n.456+64G>A)
c.795+64G>A (n.795+64G>A)
 dbSNP gnomAD v4
Xg.108578447G=CA2450682366COL4A5c.780+64G= (n.780+64G=)
c.456+64G= (n.456+64G=)
c.795+64G= (n.795+64G=)
Xg.108578448G>ACA2450682368COL4A5c.780+65G>A (n.780+65G>A)
c.456+65G>A (n.456+65G>A)
c.795+65G>A (n.795+65G>A)
 dbSNP
Xg.108578448G=CA2450682367COL4A5c.780+65G= (n.780+65G=)
c.456+65G= (n.456+65G=)
c.795+65G= (n.795+65G=)
Xg.108578448G>TCA2694412423COL4A5c.780+65G>T (n.780+65G>T)
c.456+65G>T (n.456+65G>T)
c.795+65G>T (n.795+65G>T)
 gnomAD v4
Xg.108578451A>GCA2694412424COL4A5c.780+68A>G (n.780+68A>G)
c.456+68A>G (n.456+68A>G)
c.795+68A>G (n.795+68A>G)
 gnomAD v4
Xg.108578453C>ACA2694412425COL4A5c.780+70C>A (n.780+70C>A)
c.456+70C>A (n.456+70C>A)
c.795+70C>A (n.795+70C>A)
 gnomAD v4
Xg.108578455C=CA2450682369COL4A5c.780+72C= (n.780+72C=)
c.456+72C= (n.456+72C=)
c.795+72C= (n.795+72C=)
Xg.108578455C>TCA2450682370COL4A5c.780+72C>T (n.780+72C>T)
c.456+72C>T (n.456+72C>T)
c.795+72C>T (n.795+72C>T)
 dbSNP
Xg.108578455_108578456insCAACCAAACACACCCCA2822894640COL4A5c.780+72_780+73insCAACCAAACACACCC (n.780+72_780+73insCAACCAAACACACCC)
c.456+72_456+73insCAACCAAACACACCC (n.456+72_456+73insCAACCAAACACACCC)
c.795+72_795+73insCAACCAAACACACCC (n.795+72_795+73insCAACCAAACACACCC)
Xg.108578457T>ACA2822894643COL4A5c.780+74T>A (n.780+74T>A)
c.456+74T>A (n.456+74T>A)
c.795+74T>A (n.795+74T>A)
Xg.108578457T>CCA2822894645COL4A5c.780+74T>C (n.780+74T>C)
c.456+74T>C (n.456+74T>C)
c.795+74T>C (n.795+74T>C)
Xg.108578458C>ACA2579675961COL4A5c.780+75C>A (n.780+75C>A)
c.456+75C>A (n.456+75C>A)
c.795+75C>A (n.795+75C>A)
 gnomAD v4
Xg.108578458C=CA2450682371COL4A5c.780+75C= (n.780+75C=)
c.456+75C= (n.456+75C=)
c.795+75C= (n.795+75C=)
Xg.108578458C>TCA1136179133COL4A5c.780+75C>T (n.780+75C>T)
c.456+75C>T (n.456+75C>T)
c.795+75C>T (n.795+75C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578459A>TCA2694412430COL4A5c.780+76A>T (n.780+76A>T)
c.456+76A>T (n.456+76A>T)
c.795+76A>T (n.795+76A>T)
 gnomAD v4
Xg.108578460C>ACA2694412431COL4A5c.780+77C>A (n.780+77C>A)
c.456+77C>A (n.456+77C>A)
c.795+77C>A (n.795+77C>A)
 gnomAD v4
Xg.108578463T>CCA869820416COL4A5c.780+80T>C (n.780+80T>C)
c.456+80T>C (n.456+80T>C)
c.795+80T>C (n.795+80T>C)
 dbSNP gnomAD v4
Xg.108578463T=CA2450682372COL4A5c.780+80T= (n.780+80T=)
c.456+80T= (n.456+80T=)
c.795+80T= (n.795+80T=)
Xg.108578465T>CCA334180294COL4A5c.780+82T>C (n.780+82T>C)
c.456+82T>C (n.456+82T>C)
c.795+82T>C (n.795+82T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.108578465T=CA2450682373COL4A5c.780+82T= (n.780+82T=)
c.456+82T= (n.456+82T=)
c.795+82T= (n.795+82T=)
Xg.108578468_108578475delCA2694412434COL4A5c.780+85_780+92del (n.780+85_780+92del)
c.456+85_456+92del (n.456+85_456+92del)
c.795+85_795+92del (n.795+85_795+92del)
 gnomAD v4

Number of alleles fetched