Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108620257_108620303delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTGCA2450695923COL4A5c.2510-2_2554delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG
n.1966-2_2010delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG
c.2186-2_2230delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG
c.83-2_127delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG
c.2525-2_2569delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG
c.845-2_889delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG
Xg.108620259_108620304delCA891843941COL4A5c.2510_2555del
n.1966_2011del
c.2186_2231del
c.83_128del
c.2525_2570del
c.845_890del
Xg.108620280A>CCA413851291COL4A5c.2531A>C (p.Glu844Ala)
n.1987A>C
c.2207A>C (p.Glu736Ala)
c.104A>C (p.Glu35Ala)
c.2546A>C (p.Glu849Ala)
c.866A>C (p.Glu289Ala)
Xg.108620280A>GCA413851289COL4A5c.2531A>G (p.Glu844Gly)
n.1987A>G
c.2207A>G (p.Glu736Gly)
c.104A>G (p.Glu35Gly)
c.2546A>G (p.Glu849Gly)
c.866A>G (p.Glu289Gly)
Xg.108620280A>TCA413851290COL4A5c.2531A>T (p.Glu844Val)
n.1987A>T
c.2207A>T (p.Glu736Val)
c.104A>T (p.Glu35Val)
c.2546A>T (p.Glu849Val)
c.866A>T (p.Glu289Val)
Xg.108620281G>ACA517923961COL4A5c.2532G>A (p.Glu844=)
n.1988G>A
c.2208G>A (p.Glu736=)
c.105G>A (p.Glu35=)
c.2547G>A (p.Glu849=)
c.867G>A (p.Glu289=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108620281G>CCA413851292COL4A5c.2532G>C (p.Glu844Asp)
n.1988G>C
c.2208G>C (p.Glu736Asp)
c.105G>C (p.Glu35Asp)
c.2547G>C (p.Glu849Asp)
c.867G>C (p.Glu289Asp)
Xg.108620281G=CA2450695931COL4A5c.2532G= (p.Glu844=)
n.1988G=
c.2208G= (p.Glu736=)
c.105G= (p.Glu35=)
c.2547G= (p.Glu849=)
c.867G= (p.Glu289=)
Xg.108620281G>TCA413851293COL4A5c.2532G>T (p.Glu844Asp)
n.1988G>T
c.2208G>T (p.Glu736Asp)
c.105G>T (p.Glu35Asp)
c.2547G>T (p.Glu849Asp)
c.867G>T (p.Glu289Asp)
Xg.108620282A=CA2450695932COL4A5c.2533A= (p.Lys845=)
n.1989A=
c.2209A= (p.Lys737=)
c.106A= (p.Lys36=)
c.2548A= (p.Lys850=)
c.868A= (p.Lys290=)
Xg.108620282A>CCA413851294COL4A5c.2533A>C (p.Lys845Gln)
n.1989A>C
c.2209A>C (p.Lys737Gln)
c.106A>C (p.Lys36Gln)
c.2548A>C (p.Lys850Gln)
c.868A>C (p.Lys290Gln)
Xg.108620282A>GCA334048940COL4A5c.2533A>G (p.Lys845Glu)
n.1989A>G
c.2209A>G (p.Lys737Glu)
c.106A>G (p.Lys36Glu)
c.2548A>G (p.Lys850Glu)
c.868A>G (p.Lys290Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108620282A>TCA413851295COL4A5c.2533A>T (p.Lys845Ter)
n.1989A>T
c.2209A>T (p.Lys737Ter)
c.106A>T (p.Lys36Ter)
c.2548A>T (p.Lys850Ter)
c.868A>T (p.Lys290Ter)
Xg.108620283delCA2579676514COL4A5c.2534del (p.Lys845ArgfsTer30)
n.1990del
c.2210del (p.Lys737ArgfsTer30)
c.107del (p.Lys36ArgfsTer30)
c.2549del (p.Lys850ArgfsTer30)
c.869del (p.Lys290ArgfsTer30)
 gnomAD v4
Xg.108620283A=CA2450695933COL4A5c.2534A= (p.Lys845=)
n.1990A=
c.2210A= (p.Lys737=)
c.107A= (p.Lys36=)
c.2549A= (p.Lys850=)
c.869A= (p.Lys290=)
Xg.108620283A>CCA413851296COL4A5c.2534A>C (p.Lys845Thr)
n.1990A>C
c.2210A>C (p.Lys737Thr)
c.107A>C (p.Lys36Thr)
c.2549A>C (p.Lys850Thr)
c.869A>C (p.Lys290Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108620283A>GCA413851297COL4A5c.2534A>G (p.Lys845Arg)
n.1990A>G
c.2210A>G (p.Lys737Arg)
c.107A>G (p.Lys36Arg)
c.2549A>G (p.Lys850Arg)
c.869A>G (p.Lys290Arg)
Xg.108620283A>TCA413851298COL4A5c.2534A>T (p.Lys845Met)
n.1990A>T
c.2210A>T (p.Lys737Met)
c.107A>T (p.Lys36Met)
c.2549A>T (p.Lys850Met)
c.869A>T (p.Lys290Met)
Xg.108620284G>ACA517923968COL4A5c.2535G>A (p.Lys845=)
n.1991G>A
c.2211G>A (p.Lys737=)
c.108G>A (p.Lys36=)
c.2550G>A (p.Lys850=)
c.870G>A (p.Lys290=)
 ClinVar dbSNP gnomAD v4
Xg.108620284G>CCA413851299COL4A5c.2535G>C (p.Lys845Asn)
n.1991G>C
c.2211G>C (p.Lys737Asn)
c.108G>C (p.Lys36Asn)
c.2550G>C (p.Lys850Asn)
c.870G>C (p.Lys290Asn)
Xg.108620284G>TCA413851300COL4A5c.2535G>T (p.Lys845Asn)
n.1991G>T
c.2211G>T (p.Lys737Asn)
c.108G>T (p.Lys36Asn)
c.2550G>T (p.Lys850Asn)
c.870G>T (p.Lys290Asn)
Xg.108620287_108620288dupCA658656865COL4A5c.2538_2539dup (p.Asp847GlyfsTer29)
n.1994_1995dup
c.2214_2215dup (p.Asp739GlyfsTer29)
c.111_112dup (p.Asp38GlyfsTer29)
c.2553_2554dup (p.Asp852GlyfsTer29)
c.873_874dup (p.Asp292GlyfsTer29)
 ClinVar dbSNP
Xg.108620285G>ACA413851302COL4A5c.2536G>A (p.Gly846Arg)
n.1992G>A
c.2212G>A (p.Gly738Arg)
c.109G>A (p.Gly37Arg)
c.2551G>A (p.Gly851Arg)
c.871G>A (p.Gly291Arg)
Xg.108620285G>CCA413851303COL4A5c.2536G>C (p.Gly846Arg)
n.1992G>C
c.2212G>C (p.Gly738Arg)
c.109G>C (p.Gly37Arg)
c.2551G>C (p.Gly851Arg)
c.871G>C (p.Gly291Arg)
Xg.108620285G>TCA413851301COL4A5c.2536G>T (p.Gly846Trp)
n.1992G>T
c.2212G>T (p.Gly738Trp)
c.109G>T (p.Gly37Trp)
c.2551G>T (p.Gly851Trp)
c.871G>T (p.Gly291Trp)
Xg.108620286G>ACA413851304COL4A5c.2537G>A (p.Gly846Glu)
n.1993G>A
c.2213G>A (p.Gly738Glu)
c.110G>A (p.Gly37Glu)
c.2552G>A (p.Gly851Glu)
c.872G>A (p.Gly291Glu)
 ClinVar dbSNP
Xg.108620286G>CCA413851305COL4A5c.2537G>C (p.Gly846Ala)
n.1993G>C
c.2213G>C (p.Gly738Ala)
c.110G>C (p.Gly37Ala)
c.2552G>C (p.Gly851Ala)
c.872G>C (p.Gly291Ala)
Xg.108620286G=CA2450695934COL4A5c.2537G= (p.Gly846=)
n.1993G=
c.2213G= (p.Gly738=)
c.110G= (p.Gly37=)
c.2552G= (p.Gly851=)
c.872G= (p.Gly291=)
Xg.108620286G>TCA413851306COL4A5c.2537G>T (p.Gly846Val)
n.1993G>T
c.2213G>T (p.Gly738Val)
c.110G>T (p.Gly37Val)
c.2552G>T (p.Gly851Val)
c.872G>T (p.Gly291Val)
Xg.108620287G>ACA517923973COL4A5c.2538G>A (p.Gly846=)
n.1994G>A
c.2214G>A (p.Gly738=)
c.111G>A (p.Gly37=)
c.2553G>A (p.Gly851=)
c.873G>A (p.Gly291=)
 ClinVar
Xg.108620287G>CCA517923975COL4A5c.2538G>C (p.Gly846=)
n.1994G>C
c.2214G>C (p.Gly738=)
c.111G>C (p.Gly37=)
c.2553G>C (p.Gly851=)
c.873G>C (p.Gly291=)
Xg.108620287G>TCA517923977COL4A5c.2538G>T (p.Gly846=)
n.1994G>T
c.2214G>T (p.Gly738=)
c.111G>T (p.Gly37=)
c.2553G>T (p.Gly851=)
c.873G>T (p.Gly291=)
Xg.108620288G>ACA413851307COL4A5c.2539G>A (p.Asp847Asn)
n.1995G>A
c.2215G>A (p.Asp739Asn)
c.112G>A (p.Asp38Asn)
c.2554G>A (p.Asp852Asn)
c.874G>A (p.Asp292Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.108620288G>CCA413851308COL4A5c.2539G>C (p.Asp847His)
n.1995G>C
c.2215G>C (p.Asp739His)
c.112G>C (p.Asp38His)
c.2554G>C (p.Asp852His)
c.874G>C (p.Asp292His)
Xg.108620288G=CA2450695935COL4A5c.2539G= (p.Asp847=)
n.1995G=
c.2215G= (p.Asp739=)
c.112G= (p.Asp38=)
c.2554G= (p.Asp852=)
c.874G= (p.Asp292=)
Xg.108620288G>TCA413851309COL4A5c.2539G>T (p.Asp847Tyr)
n.1995G>T
c.2215G>T (p.Asp739Tyr)
c.112G>T (p.Asp38Tyr)
c.2554G>T (p.Asp852Tyr)
c.874G>T (p.Asp292Tyr)
Xg.108620289_108620312delCA2580100187COL4A5c.2540_2563del (p.Asp847_Asp854del)
n.1996_2019del
c.2216_2239del (p.Asp739_Asp746del)
c.113_136del (p.Asp38_Asp45del)
c.2555_2578del (p.Asp852_Asp859del)
c.875_898del (p.Asp292_Asp299del)
 ClinVar
Xg.108620289A>CCA413851310COL4A5c.2540A>C (p.Asp847Ala)
n.1996A>C
c.2216A>C (p.Asp739Ala)
c.113A>C (p.Asp38Ala)
c.2555A>C (p.Asp852Ala)
c.875A>C (p.Asp292Ala)
Xg.108620289A>GCA413851311COL4A5c.2540A>G (p.Asp847Gly)
n.1996A>G
c.2216A>G (p.Asp739Gly)
c.113A>G (p.Asp38Gly)
c.2555A>G (p.Asp852Gly)
c.875A>G (p.Asp292Gly)
Xg.108620289A>TCA413851312COL4A5c.2540A>T (p.Asp847Val)
n.1996A>T
c.2216A>T (p.Asp739Val)
c.113A>T (p.Asp38Val)
c.2555A>T (p.Asp852Val)
c.875A>T (p.Asp292Val)
Xg.108620289dupCA2695235215COL4A5c.2540dup (p.Asp847GlufsTer8)
n.1996dup
c.2216dup (p.Asp739GlufsTer8)
c.113dup (p.Asp38GlufsTer8)
c.2555dup (p.Asp852GlufsTer8)
c.875dup (p.Asp292GlufsTer8)
Xg.108620289_108620313delinsATCCAGGACCTCCTGGACTTGATGTCA2450695936COL4A5c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp847=)
n.1996_2020delinsATCCAGGACCTCCTGGACTTGATGT
c.2216_2240delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp739=)
c.113_137delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp38=)
c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp852=)
c.875_899delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp292=)
Xg.108620290T>ACA413851313COL4A5c.2541T>A (p.Asp847Glu)
n.1997T>A
c.2217T>A (p.Asp739Glu)
c.114T>A (p.Asp38Glu)
c.2556T>A (p.Asp852Glu)
c.876T>A (p.Asp292Glu)
Xg.108620290T>CCA517923984COL4A5c.2541T>C (p.Asp847=)
n.1997T>C
c.2217T>C (p.Asp739=)
c.114T>C (p.Asp38=)
c.2556T>C (p.Asp852=)
c.876T>C (p.Asp292=)
Xg.108620290T>GCA413851314COL4A5c.2541T>G (p.Asp847Glu)
n.1997T>G
c.2217T>G (p.Asp739Glu)
c.114T>G (p.Asp38Glu)
c.2556T>G (p.Asp852Glu)
c.876T>G (p.Asp292Glu)
Xg.108620299_108620322delCA258704COL4A5c.2550_2573del (p.Pro851_Pro858del)
n.2006_2029del
c.2226_2249del (p.Pro743_Pro750del)
c.123_146del (p.Pro42_Pro49del)
c.2565_2588del (p.Pro856_Pro863del)
c.885_908del (p.Pro296_Pro303del)
 dbSNP
Xg.108620291C>ACA413851317COL4A5c.2542C>A (p.Pro848Thr)
n.1998C>A
c.2218C>A (p.Pro740Thr)
c.115C>A (p.Pro39Thr)
c.2557C>A (p.Pro853Thr)
c.877C>A (p.Pro293Thr)
Xg.108620291C>GCA413851316COL4A5c.2542C>G (p.Pro848Ala)
n.1998C>G
c.2218C>G (p.Pro740Ala)
c.115C>G (p.Pro39Ala)
c.2557C>G (p.Pro853Ala)
c.877C>G (p.Pro293Ala)
Xg.108620291C>TCA413851315COL4A5c.2542C>T (p.Pro848Ser)
n.1998C>T
c.2218C>T (p.Pro740Ser)
c.115C>T (p.Pro39Ser)
c.2557C>T (p.Pro853Ser)
c.877C>T (p.Pro293Ser)
 COSMIC COSMIC
Xg.108620292C>ACA413851318COL4A5c.2543C>A (p.Pro848Gln)
n.1999C>A
c.2219C>A (p.Pro740Gln)
c.116C>A (p.Pro39Gln)
c.2558C>A (p.Pro853Gln)
c.878C>A (p.Pro293Gln)
 COSMIC
Xg.108620292C>GCA413851319COL4A5c.2543C>G (p.Pro848Arg)
n.1999C>G
c.2219C>G (p.Pro740Arg)
c.116C>G (p.Pro39Arg)
c.2558C>G (p.Pro853Arg)
c.878C>G (p.Pro293Arg)
Xg.108620292C>TCA413851320COL4A5c.2543C>T (p.Pro848Leu)
n.1999C>T
c.2219C>T (p.Pro740Leu)
c.116C>T (p.Pro39Leu)
c.2558C>T (p.Pro853Leu)
c.878C>T (p.Pro293Leu)
 ClinVar
Xg.108620293A=CA2450695937COL4A5c.2544A= (p.Pro848=)
n.2000A=
c.2220A= (p.Pro740=)
c.117A= (p.Pro39=)
c.2559A= (p.Pro853=)
c.879A= (p.Pro293=)
Xg.108620293A>CCA517923986COL4A5c.2544A>C (p.Pro848=)
n.2000A>C
c.2220A>C (p.Pro740=)
c.117A>C (p.Pro39=)
c.2559A>C (p.Pro853=)
c.879A>C (p.Pro293=)
Xg.108620293A>GCA10488942COL4A5c.2544A>G (p.Pro848=)
n.2000A>G
c.2220A>G (p.Pro740=)
c.117A>G (p.Pro39=)
c.2559A>G (p.Pro853=)
c.879A>G (p.Pro293=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620293A>TCA517923988COL4A5c.2544A>T (p.Pro848=)
n.2000A>T
c.2220A>T (p.Pro740=)
c.117A>T (p.Pro39=)
c.2559A>T (p.Pro853=)
c.879A>T (p.Pro293=)
Xg.108620294G>ACA413851321COL4A5c.2545G>A (p.Gly849Arg)
n.2001G>A
c.2221G>A (p.Gly741Arg)
c.118G>A (p.Gly40Arg)
c.2560G>A (p.Gly854Arg)
c.880G>A (p.Gly294Arg)
Xg.108620294G>CCA413851322COL4A5c.2545G>C (p.Gly849Arg)
n.2001G>C
c.2221G>C (p.Gly741Arg)
c.118G>C (p.Gly40Arg)
c.2560G>C (p.Gly854Arg)
c.880G>C (p.Gly294Arg)
Xg.108620294G>TCA413851323COL4A5c.2545G>T (p.Gly849Ter)
n.2001G>T
c.2221G>T (p.Gly741Ter)
c.118G>T (p.Gly40Ter)
c.2560G>T (p.Gly854Ter)
c.880G>T (p.Gly294Ter)
Xg.108620295G>ACA413851325COL4A5c.2546G>A (p.Gly849Glu)
n.2002G>A
c.2222G>A (p.Gly741Glu)
c.119G>A (p.Gly40Glu)
c.2561G>A (p.Gly854Glu)
c.881G>A (p.Gly294Glu)
Xg.108620295G>CCA413851326COL4A5c.2546G>C (p.Gly849Ala)
n.2002G>C
c.2222G>C (p.Gly741Ala)
c.119G>C (p.Gly40Ala)
c.2561G>C (p.Gly854Ala)
c.881G>C (p.Gly294Ala)
Xg.108620295G=CA2450695938COL4A5c.2546G= (p.Gly849=)
n.2002G=
c.2222G= (p.Gly741=)
c.119G= (p.Gly40=)
c.2561G= (p.Gly854=)
c.881G= (p.Gly294=)
Xg.108620295G>TCA413851327COL4A5c.2546G>T (p.Gly849Val)
n.2002G>T
c.2222G>T (p.Gly741Val)
c.119G>T (p.Gly40Val)
c.2561G>T (p.Gly854Val)
c.881G>T (p.Gly294Val)
Xg.108620296A=CA2450695939COL4A5c.2547A= (p.Gly849=)
n.2003A=
c.2223A= (p.Gly741=)
c.120A= (p.Gly40=)
c.2562A= (p.Gly854=)
c.882A= (p.Gly294=)
Xg.108620296A>CCA517923990COL4A5c.2547A>C (p.Gly849=)
n.2003A>C
c.2223A>C (p.Gly741=)
c.120A>C (p.Gly40=)
c.2562A>C (p.Gly854=)
c.882A>C (p.Gly294=)
Xg.108620296A>GCA517923991COL4A5c.2547A>G (p.Gly849=)
n.2003A>G
c.2223A>G (p.Gly741=)
c.120A>G (p.Gly40=)
c.2562A>G (p.Gly854=)
c.882A>G (p.Gly294=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108620296A>TCA517923994COL4A5c.2547A>T (p.Gly849=)
n.2003A>T
c.2223A>T (p.Gly741=)
c.120A>T (p.Gly40=)
c.2562A>T (p.Gly854=)
c.882A>T (p.Gly294=)
 ClinVar
Xg.108620297C>ACA413851328COL4A5c.2548C>A (p.Pro850Thr)
n.2004C>A
c.2224C>A (p.Pro742Thr)
c.121C>A (p.Pro41Thr)
c.2563C>A (p.Pro855Thr)
c.883C>A (p.Pro295Thr)
Xg.108620297C=CA2450695940COL4A5c.2548C= (p.Pro850=)
n.2004C=
c.2224C= (p.Pro742=)
c.121C= (p.Pro41=)
c.2563C= (p.Pro855=)
c.883C= (p.Pro295=)
Xg.108620297C>GCA413851329COL4A5c.2548C>G (p.Pro850Ala)
n.2004C>G
c.2224C>G (p.Pro742Ala)
c.121C>G (p.Pro41Ala)
c.2563C>G (p.Pro855Ala)
c.883C>G (p.Pro295Ala)
Xg.108620297C>TCA413851330COL4A5c.2548C>T (p.Pro850Ser)
n.2004C>T
c.2224C>T (p.Pro742Ser)
c.121C>T (p.Pro41Ser)
c.2563C>T (p.Pro855Ser)
c.883C>T (p.Pro295Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620298C>ACA413851332COL4A5c.2549C>A (p.Pro850His)
n.2005C>A
c.2225C>A (p.Pro742His)
c.122C>A (p.Pro41His)
c.2564C>A (p.Pro855His)
c.884C>A (p.Pro295His)
Xg.108620298C>GCA413851333COL4A5c.2549C>G (p.Pro850Arg)
n.2005C>G
c.2225C>G (p.Pro742Arg)
c.122C>G (p.Pro41Arg)
c.2564C>G (p.Pro855Arg)
c.884C>G (p.Pro295Arg)
Xg.108620298C>TCA413851331COL4A5c.2549C>T (p.Pro850Leu)
n.2005C>T
c.2225C>T (p.Pro742Leu)
c.122C>T (p.Pro41Leu)
c.2564C>T (p.Pro855Leu)
c.884C>T (p.Pro295Leu)
Xg.108620299T>ACA517923997COL4A5c.2550T>A (p.Pro850=)
n.2006T>A
c.2226T>A (p.Pro742=)
c.123T>A (p.Pro41=)
c.2565T>A (p.Pro855=)
c.885T>A (p.Pro295=)
Xg.108620299T>CCA517923998COL4A5c.2550T>C (p.Pro850=)
n.2006T>C
c.2226T>C (p.Pro742=)
c.123T>C (p.Pro41=)
c.2565T>C (p.Pro855=)
c.885T>C (p.Pro295=)
Xg.108620299T>GCA517924000COL4A5c.2550T>G (p.Pro850=)
n.2006T>G
c.2226T>G (p.Pro742=)
c.123T>G (p.Pro41=)
c.2565T>G (p.Pro855=)
c.885T>G (p.Pro295=)
Xg.108620300C>ACA413851336COL4A5c.2551C>A (p.Pro851Thr)
n.2007C>A
c.2227C>A (p.Pro743Thr)
c.124C>A (p.Pro42Thr)
c.2566C>A (p.Pro856Thr)
c.886C>A (p.Pro296Thr)
Xg.108620300C>GCA413851334COL4A5c.2551C>G (p.Pro851Ala)
n.2007C>G
c.2227C>G (p.Pro743Ala)
c.124C>G (p.Pro42Ala)
c.2566C>G (p.Pro856Ala)
c.886C>G (p.Pro296Ala)
Xg.108620300C>TCA413851335COL4A5c.2551C>T (p.Pro851Ser)
n.2007C>T
c.2227C>T (p.Pro743Ser)
c.124C>T (p.Pro42Ser)
c.2566C>T (p.Pro856Ser)
c.886C>T (p.Pro296Ser)
 COSMIC COSMIC
Xg.108620301C>ACA413851337COL4A5c.2552C>A (p.Pro851His)
n.2008C>A
c.2228C>A (p.Pro743His)
c.125C>A (p.Pro42His)
c.2567C>A (p.Pro856His)
c.887C>A (p.Pro296His)
Xg.108620301C=CA2450695941COL4A5c.2552C= (p.Pro851=)
n.2008C=
c.2228C= (p.Pro743=)
c.125C= (p.Pro42=)
c.2567C= (p.Pro856=)
c.887C= (p.Pro296=)
Xg.108620301C>GCA413851338COL4A5c.2552C>G (p.Pro851Arg)
n.2008C>G
c.2228C>G (p.Pro743Arg)
c.125C>G (p.Pro42Arg)
c.2567C>G (p.Pro856Arg)
c.887C>G (p.Pro296Arg)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.108620301C>TCA413851339COL4A5c.2552C>T (p.Pro851Leu)
n.2008C>T
c.2228C>T (p.Pro743Leu)
c.125C>T (p.Pro42Leu)
c.2567C>T (p.Pro856Leu)
c.887C>T (p.Pro296Leu)
Xg.108620302T>ACA517924007COL4A5c.2553T>A (p.Pro851=)
n.2009T>A
c.2229T>A (p.Pro743=)
c.126T>A (p.Pro42=)
c.2568T>A (p.Pro856=)
c.888T>A (p.Pro296=)
Xg.108620302T>CCA517924011COL4A5c.2553T>C (p.Pro851=)
n.2009T>C
c.2229T>C (p.Pro743=)
c.126T>C (p.Pro42=)
c.2568T>C (p.Pro856=)
c.888T>C (p.Pro296=)
Xg.108620302T>GCA517924009COL4A5c.2553T>G (p.Pro851=)
n.2009T>G
c.2229T>G (p.Pro743=)
c.126T>G (p.Pro42=)
c.2568T>G (p.Pro856=)
c.888T>G (p.Pro296=)
Xg.108620303G>ACA258707COL4A5c.2554G>A (p.Gly852Arg)
n.2010G>A
c.2230G>A (p.Gly744Arg)
c.127G>A (p.Gly43Arg)
c.2569G>A (p.Gly857Arg)
c.889G>A (p.Gly297Arg)
 ClinVar dbSNP
Xg.108620303G>CCA413851341COL4A5c.2554G>C (p.Gly852Arg)
n.2010G>C
c.2230G>C (p.Gly744Arg)
c.127G>C (p.Gly43Arg)
c.2569G>C (p.Gly857Arg)
c.889G>C (p.Gly297Arg)
Xg.108620303G=CA2450695942COL4A5c.2554G= (p.Gly852=)
n.2010G=
c.2230G= (p.Gly744=)
c.127G= (p.Gly43=)
c.2569G= (p.Gly857=)
c.889G= (p.Gly297=)
Xg.108620303G>TCA413851340COL4A5c.2554G>T (p.Gly852Ter)
n.2010G>T
c.2230G>T (p.Gly744Ter)
c.127G>T (p.Gly43Ter)
c.2569G>T (p.Gly857Ter)
c.889G>T (p.Gly297Ter)
Xg.108620304G>ACA258709COL4A5c.2555G>A (p.Gly852Glu)
n.2011G>A
c.2231G>A (p.Gly744Glu)
c.128G>A (p.Gly43Glu)
c.2570G>A (p.Gly857Glu)
c.890G>A (p.Gly297Glu)
 ClinVar dbSNP
Xg.108620304G>CCA413851342COL4A5c.2555G>C (p.Gly852Ala)
n.2011G>C
c.2231G>C (p.Gly744Ala)
c.128G>C (p.Gly43Ala)
c.2570G>C (p.Gly857Ala)
c.890G>C (p.Gly297Ala)
Xg.108620304G=CA2450695943COL4A5c.2555G= (p.Gly852=)
n.2011G=
c.2231G= (p.Gly744=)
c.128G= (p.Gly43=)
c.2570G= (p.Gly857=)
c.890G= (p.Gly297=)
Xg.108620304G>TCA413851343COL4A5c.2555G>T (p.Gly852Val)
n.2011G>T
c.2231G>T (p.Gly744Val)
c.128G>T (p.Gly43Val)
c.2570G>T (p.Gly857Val)
c.890G>T (p.Gly297Val)
Xg.108620305A>CCA517924019COL4A5c.2556A>C (p.Gly852=)
n.2012A>C
c.2232A>C (p.Gly744=)
c.129A>C (p.Gly43=)
c.2571A>C (p.Gly857=)
c.891A>C (p.Gly297=)
Xg.108620305A>GCA517924020COL4A5c.2556A>G (p.Gly852=)
n.2012A>G
c.2232A>G (p.Gly744=)
c.129A>G (p.Gly43=)
c.2571A>G (p.Gly857=)
c.891A>G (p.Gly297=)
Xg.108620305A>TCA517924021COL4A5c.2556A>T (p.Gly852=)
n.2012A>T
c.2232A>T (p.Gly744=)
c.129A>T (p.Gly43=)
c.2571A>T (p.Gly857=)
c.891A>T (p.Gly297=)
Xg.108620306C>ACA413851344COL4A5c.2557C>A (p.Leu853Ile)
n.2013C>A
c.2233C>A (p.Leu745Ile)
c.130C>A (p.Leu44Ile)
c.2572C>A (p.Leu858Ile)
c.892C>A (p.Leu298Ile)
Xg.108620306C>GCA413851345COL4A5c.2557C>G (p.Leu853Val)
n.2013C>G
c.2233C>G (p.Leu745Val)
c.130C>G (p.Leu44Val)
c.2572C>G (p.Leu858Val)
c.892C>G (p.Leu298Val)
Xg.108620306C>TCA413851346COL4A5c.2557C>T (p.Leu853Phe)
n.2013C>T
c.2233C>T (p.Leu745Phe)
c.130C>T (p.Leu44Phe)
c.2572C>T (p.Leu858Phe)
c.892C>T (p.Leu298Phe)
 gnomAD v4
Xg.108620307T>ACA413851349COL4A5c.2558T>A (p.Leu853His)
n.2014T>A
c.2234T>A (p.Leu745His)
c.131T>A (p.Leu44His)
c.2573T>A (p.Leu858His)
c.893T>A (p.Leu298His)
 COSMIC COSMIC
Xg.108620307T>CCA413851347COL4A5c.2558T>C (p.Leu853Pro)
n.2014T>C
c.2234T>C (p.Leu745Pro)
c.131T>C (p.Leu44Pro)
c.2573T>C (p.Leu858Pro)
c.893T>C (p.Leu298Pro)
Xg.108620307T>GCA413851348COL4A5c.2558T>G (p.Leu853Arg)
n.2014T>G
c.2234T>G (p.Leu745Arg)
c.131T>G (p.Leu44Arg)
c.2573T>G (p.Leu858Arg)
c.893T>G (p.Leu298Arg)
 dbSNP
Xg.108620307T=CA2450695944COL4A5c.2558T= (p.Leu853=)
n.2014T=
c.2234T= (p.Leu745=)
c.131T= (p.Leu44=)
c.2573T= (p.Leu858=)
c.893T= (p.Leu298=)
Xg.108620308T>ACA517924029COL4A5c.2559T>A (p.Leu853=)
n.2015T>A
c.2235T>A (p.Leu745=)
c.132T>A (p.Leu44=)
c.2574T>A (p.Leu858=)
c.894T>A (p.Leu298=)
Xg.108620308T>CCA517924033COL4A5c.2559T>C (p.Leu853=)
n.2015T>C
c.2235T>C (p.Leu745=)
c.132T>C (p.Leu44=)
c.2574T>C (p.Leu858=)
c.894T>C (p.Leu298=)
 ClinVar
Xg.108620308T>GCA517924031COL4A5c.2559T>G (p.Leu853=)
n.2015T>G
c.2235T>G (p.Leu745=)
c.132T>G (p.Leu44=)
c.2574T>G (p.Leu858=)
c.894T>G (p.Leu298=)
Xg.108620309G>ACA413851350COL4A5c.2560G>A (p.Asp854Asn)
n.2016G>A
c.2236G>A (p.Asp746Asn)
c.133G>A (p.Asp45Asn)
c.2575G>A (p.Asp859Asn)
c.895G>A (p.Asp299Asn)
Xg.108620309G>CCA413851351COL4A5c.2560G>C (p.Asp854His)
n.2016G>C
c.2236G>C (p.Asp746His)
c.133G>C (p.Asp45His)
c.2575G>C (p.Asp859His)
c.895G>C (p.Asp299His)
Xg.108620309G>TCA413851352COL4A5c.2560G>T (p.Asp854Tyr)
n.2016G>T
c.2236G>T (p.Asp746Tyr)
c.133G>T (p.Asp45Tyr)
c.2575G>T (p.Asp859Tyr)
c.895G>T (p.Asp299Tyr)
Xg.108620310A=CA2450695945COL4A5c.2561A= (p.Asp854=)
n.2017A=
c.2237A= (p.Asp746=)
c.134A= (p.Asp45=)
c.2576A= (p.Asp859=)
c.896A= (p.Asp299=)
Xg.108620310A>CCA413851353COL4A5c.2561A>C (p.Asp854Ala)
n.2017A>C
c.2237A>C (p.Asp746Ala)
c.134A>C (p.Asp45Ala)
c.2576A>C (p.Asp859Ala)
c.896A>C (p.Asp299Ala)
Xg.108620310A>GCA10488943COL4A5c.2561A>G (p.Asp854Gly)
n.2017A>G
c.2237A>G (p.Asp746Gly)
c.134A>G (p.Asp45Gly)
c.2576A>G (p.Asp859Gly)
c.896A>G (p.Asp299Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108620310A>TCA413851354COL4A5c.2561A>T (p.Asp854Val)
n.2017A>T
c.2237A>T (p.Asp746Val)
c.134A>T (p.Asp45Val)
c.2576A>T (p.Asp859Val)
c.896A>T (p.Asp299Val)
Xg.108620311T>ACA413851355COL4A5c.2562T>A (p.Asp854Glu)
n.2018T>A
c.2238T>A (p.Asp746Glu)
c.135T>A (p.Asp45Glu)
c.2577T>A (p.Asp859Glu)
c.897T>A (p.Asp299Glu)
Xg.108620311T>CCA10488944COL4A5c.2562T>C (p.Asp854=)
n.2018T>C
c.2238T>C (p.Asp746=)
c.135T>C (p.Asp45=)
c.2577T>C (p.Asp859=)
c.897T>C (p.Asp299=)
 dbSNP ExAC gnomAD v4
Xg.108620311T>GCA413851356COL4A5c.2562T>G (p.Asp854Glu)
n.2018T>G
c.2238T>G (p.Asp746Glu)
c.135T>G (p.Asp45Glu)
c.2577T>G (p.Asp859Glu)
c.897T>G (p.Asp299Glu)
Xg.108620311T=CA2450695946COL4A5c.2562T= (p.Asp854=)
n.2018T=
c.2238T= (p.Asp746=)
c.135T= (p.Asp45=)
c.2577T= (p.Asp859=)
c.897T= (p.Asp299=)
Xg.108620312G>ACA413851357COL4A5c.2563G>A (p.Val855Ile)
n.2019G>A
c.2239G>A (p.Val747Ile)
c.136G>A (p.Val46Ile)
c.2578G>A (p.Val860Ile)
c.898G>A (p.Val300Ile)
Xg.108620312G>CCA413851358COL4A5c.2563G>C (p.Val855Leu)
n.2019G>C
c.2239G>C (p.Val747Leu)
c.136G>C (p.Val46Leu)
c.2578G>C (p.Val860Leu)
c.898G>C (p.Val300Leu)
Xg.108620312G>TCA413851359COL4A5c.2563G>T (p.Val855Phe)
n.2019G>T
c.2239G>T (p.Val747Phe)
c.136G>T (p.Val46Phe)
c.2578G>T (p.Val860Phe)
c.898G>T (p.Val300Phe)
Xg.108620313T>ACA413851360COL4A5c.2564T>A (p.Val855Asp)
n.2020T>A
c.2240T>A (p.Val747Asp)
c.137T>A (p.Val46Asp)
c.2579T>A (p.Val860Asp)
c.899T>A (p.Val300Asp)
Xg.108620313T>CCA413851362COL4A5c.2564T>C (p.Val855Ala)
n.2020T>C
c.2240T>C (p.Val747Ala)
c.137T>C (p.Val46Ala)
c.2579T>C (p.Val860Ala)
c.899T>C (p.Val300Ala)
Xg.108620313T>GCA413851361COL4A5c.2564T>G (p.Val855Gly)
n.2020T>G
c.2240T>G (p.Val747Gly)
c.137T>G (p.Val46Gly)
c.2579T>G (p.Val860Gly)
c.899T>G (p.Val300Gly)
Xg.108620314T>ACA517924042COL4A5c.2565T>A (p.Val855=)
n.2021T>A
c.2241T>A (p.Val747=)
c.138T>A (p.Val46=)
c.2580T>A (p.Val860=)
c.900T>A (p.Val300=)
Xg.108620314T>CCA517924044COL4A5c.2565T>C (p.Val855=)
n.2021T>C
c.2241T>C (p.Val747=)
c.138T>C (p.Val46=)
c.2580T>C (p.Val860=)
c.900T>C (p.Val300=)
Xg.108620314T>GCA517924045COL4A5c.2565T>G (p.Val855=)
n.2021T>G
c.2241T>G (p.Val747=)
c.138T>G (p.Val46=)
c.2580T>G (p.Val860=)
c.900T>G (p.Val300=)
Xg.108620315C>ACA413851363COL4A5c.2566C>A (p.Pro856Thr)
n.2022C>A
c.2242C>A (p.Pro748Thr)
c.139C>A (p.Pro47Thr)
c.2581C>A (p.Pro861Thr)
c.901C>A (p.Pro301Thr)
Xg.108620315C>GCA413851364COL4A5c.2566C>G (p.Pro856Ala)
n.2022C>G
c.2242C>G (p.Pro748Ala)
c.139C>G (p.Pro47Ala)
c.2581C>G (p.Pro861Ala)
c.901C>G (p.Pro301Ala)
Xg.108620315C>TCA413851365COL4A5c.2566C>T (p.Pro856Ser)
n.2022C>T
c.2242C>T (p.Pro748Ser)
c.139C>T (p.Pro47Ser)
c.2581C>T (p.Pro861Ser)
c.901C>T (p.Pro301Ser)
Xg.108620316delCA2695235216COL4A5c.2567del (p.Pro856GlnfsTer19)
n.2023del
c.2243del (p.Pro748GlnfsTer19)
c.140del (p.Pro47GlnfsTer19)
c.2582del (p.Pro861GlnfsTer19)
c.902del (p.Pro301GlnfsTer19)
Xg.108620316C>ACA413851366COL4A5c.2567C>A (p.Pro856Gln)
n.2023C>A
c.2243C>A (p.Pro748Gln)
c.140C>A (p.Pro47Gln)
c.2582C>A (p.Pro861Gln)
c.902C>A (p.Pro301Gln)
Xg.108620316C=CA2450695947COL4A5c.2567C= (p.Pro856=)
n.2023C=
c.2243C= (p.Pro748=)
c.140C= (p.Pro47=)
c.2582C= (p.Pro861=)
c.902C= (p.Pro301=)
Xg.108620316C>GCA413851367COL4A5c.2567C>G (p.Pro856Arg)
n.2023C>G
c.2243C>G (p.Pro748Arg)
c.140C>G (p.Pro47Arg)
c.2582C>G (p.Pro861Arg)
c.902C>G (p.Pro301Arg)
Xg.108620316C>TCA413851368COL4A5c.2567C>T (p.Pro856Leu)
n.2023C>T
c.2243C>T (p.Pro748Leu)
c.140C>T (p.Pro47Leu)
c.2582C>T (p.Pro861Leu)
c.902C>T (p.Pro301Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108620317A>CCA517924056COL4A5c.2568A>C (p.Pro856=)
n.2024A>C
c.2244A>C (p.Pro748=)
c.141A>C (p.Pro47=)
c.2583A>C (p.Pro861=)
c.903A>C (p.Pro301=)
Xg.108620317A>GCA517924052COL4A5c.2568A>G (p.Pro856=)
n.2024A>G
c.2244A>G (p.Pro748=)
c.141A>G (p.Pro47=)
c.2583A>G (p.Pro861=)
c.903A>G (p.Pro301=)
 gnomAD v4
Xg.108620317A>TCA517924053COL4A5c.2568A>T (p.Pro856=)
n.2024A>T
c.2244A>T (p.Pro748=)
c.141A>T (p.Pro47=)
c.2583A>T (p.Pro861=)
c.903A>T (p.Pro301=)
Xg.108620318G>ACA413851369COL4A5c.2569G>A (p.Gly857Arg)
n.2025G>A
c.2245G>A (p.Gly749Arg)
c.142G>A (p.Gly48Arg)
c.2584G>A (p.Gly862Arg)
c.904G>A (p.Gly302Arg)
Xg.108620318G>CCA413851370COL4A5c.2569G>C (p.Gly857Arg)
n.2025G>C
c.2245G>C (p.Gly749Arg)
c.142G>C (p.Gly48Arg)
c.2584G>C (p.Gly862Arg)
c.904G>C (p.Gly302Arg)
Xg.108620318G>TCA413851371COL4A5c.2569G>T (p.Gly857Ter)
n.2025G>T
c.2245G>T (p.Gly749Ter)
c.142G>T (p.Gly48Ter)
c.2584G>T (p.Gly862Ter)
c.904G>T (p.Gly302Ter)
Xg.108620319G>ACA413851372COL4A5c.2570G>A (p.Gly857Glu)
n.2026G>A
c.2246G>A (p.Gly749Glu)
c.143G>A (p.Gly48Glu)
c.2585G>A (p.Gly862Glu)
c.905G>A (p.Gly302Glu)
Xg.108620319G>CCA413851373COL4A5c.2570G>C (p.Gly857Ala)
n.2026G>C
c.2246G>C (p.Gly749Ala)
c.143G>C (p.Gly48Ala)
c.2585G>C (p.Gly862Ala)
c.905G>C (p.Gly302Ala)
Xg.108620319G>TCA413851374COL4A5c.2570G>T (p.Gly857Val)
n.2026G>T
c.2246G>T (p.Gly749Val)
c.143G>T (p.Gly48Val)
c.2585G>T (p.Gly862Val)
c.905G>T (p.Gly302Val)
Xg.108620320A=CA2450695948COL4A5c.2571A= (p.Gly857=)
n.2027A=
c.2247A= (p.Gly749=)
c.144A= (p.Gly48=)
c.2586A= (p.Gly862=)
c.906A= (p.Gly302=)
Xg.108620320A>CCA517924060COL4A5c.2571A>C (p.Gly857=)
n.2027A>C
c.2247A>C (p.Gly749=)
c.144A>C (p.Gly48=)
c.2586A>C (p.Gly862=)
c.906A>C (p.Gly302=)
Xg.108620320A>GCA10488945COL4A5c.2571A>G (p.Gly857=)
n.2027A>G
c.2247A>G (p.Gly749=)
c.144A>G (p.Gly48=)
c.2586A>G (p.Gly862=)
c.906A>G (p.Gly302=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620320A>TCA517924061COL4A5c.2571A>T (p.Gly857=)
n.2027A>T
c.2247A>T (p.Gly749=)
c.144A>T (p.Gly48=)
c.2586A>T (p.Gly862=)
c.906A>T (p.Gly302=)
Xg.108620321C>ACA10488946COL4A5c.2572C>A (p.Pro858Thr)
n.2028C>A
c.2248C>A (p.Pro750Thr)
c.145C>A (p.Pro49Thr)
c.2587C>A (p.Pro863Thr)
c.907C>A (p.Pro303Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620321C=CA2450695949COL4A5c.2572C= (p.Pro858=)
n.2028C=
c.2248C= (p.Pro750=)
c.145C= (p.Pro49=)
c.2587C= (p.Pro863=)
c.907C= (p.Pro303=)
Xg.108620321C>GCA413851376COL4A5c.2572C>G (p.Pro858Ala)
n.2028C>G
c.2248C>G (p.Pro750Ala)
c.145C>G (p.Pro49Ala)
c.2587C>G (p.Pro863Ala)
c.907C>G (p.Pro303Ala)
Xg.108620321C>TCA413851375COL4A5c.2572C>T (p.Pro858Ser)
n.2028C>T
c.2248C>T (p.Pro750Ser)
c.145C>T (p.Pro49Ser)
c.2587C>T (p.Pro863Ser)
c.907C>T (p.Pro303Ser)
Xg.108620325delCA2579676515COL4A5c.2576del (p.Pro859GlnfsTer16)
n.2032del
c.2252del (p.Pro751GlnfsTer16)
c.149del (p.Pro50GlnfsTer16)
c.2591del (p.Pro864GlnfsTer16)
c.911del (p.Pro304GlnfsTer16)
 ClinVar
Xg.108620322C>ACA413851377COL4A5c.2573C>A (p.Pro858His)
n.2029C>A
c.2249C>A (p.Pro750His)
c.146C>A (p.Pro49His)
c.2588C>A (p.Pro863His)
c.908C>A (p.Pro303His)
Xg.108620322C=CA2450695950COL4A5c.2573C= (p.Pro858=)
n.2029C=
c.2249C= (p.Pro750=)
c.146C= (p.Pro49=)
c.2588C= (p.Pro863=)
c.908C= (p.Pro303=)
Xg.108620322C>GCA10488947COL4A5c.2573C>G (p.Pro858Arg)
n.2029C>G
c.2249C>G (p.Pro750Arg)
c.146C>G (p.Pro49Arg)
c.2588C>G (p.Pro863Arg)
c.908C>G (p.Pro303Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620322C>TCA413851378COL4A5c.2573C>T (p.Pro858Leu)
n.2029C>T
c.2249C>T (p.Pro750Leu)
c.146C>T (p.Pro49Leu)
c.2588C>T (p.Pro863Leu)
c.908C>T (p.Pro303Leu)
Xg.108620323C>ACA517924069COL4A5c.2574C>A (p.Pro858=)
n.2030C>A
c.2250C>A (p.Pro750=)
c.147C>A (p.Pro49=)
c.2589C>A (p.Pro863=)
c.909C>A (p.Pro303=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108620323C=CA2450695951COL4A5c.2574C= (p.Pro858=)
n.2030C=
c.2250C= (p.Pro750=)
c.147C= (p.Pro49=)
c.2589C= (p.Pro863=)
c.909C= (p.Pro303=)
Xg.108620323C>GCA10488948COL4A5c.2574C>G (p.Pro858=)
n.2030C>G
c.2250C>G (p.Pro750=)
c.147C>G (p.Pro49=)
c.2589C>G (p.Pro863=)
c.909C>G (p.Pro303=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108620323C>TCA517924070COL4A5c.2574C>T (p.Pro858=)
n.2030C>T
c.2250C>T (p.Pro750=)
c.147C>T (p.Pro49=)
c.2589C>T (p.Pro863=)
c.909C>T (p.Pro303=)
Xg.108620324C>ACA413851379COL4A5c.2575C>A (p.Pro859Thr)
n.2031C>A
c.2251C>A (p.Pro751Thr)
c.148C>A (p.Pro50Thr)
c.2590C>A (p.Pro864Thr)
c.910C>A (p.Pro304Thr)
Xg.108620324C>GCA413851380COL4A5c.2575C>G (p.Pro859Ala)
n.2031C>G
c.2251C>G (p.Pro751Ala)
c.148C>G (p.Pro50Ala)
c.2590C>G (p.Pro864Ala)
c.910C>G (p.Pro304Ala)
 gnomAD v4
Xg.108620324C>TCA413851381COL4A5c.2575C>T (p.Pro859Ser)
n.2031C>T
c.2251C>T (p.Pro751Ser)
c.148C>T (p.Pro50Ser)
c.2590C>T (p.Pro864Ser)
c.910C>T (p.Pro304Ser)
 gnomAD v4
Xg.108620325C>ACA413851382COL4A5c.2576C>A (p.Pro859Gln)
n.2032C>A
c.2252C>A (p.Pro751Gln)
c.149C>A (p.Pro50Gln)
c.2591C>A (p.Pro864Gln)
c.911C>A (p.Pro304Gln)
Xg.108620325C>GCA413851383COL4A5c.2576C>G (p.Pro859Arg)
n.2032C>G
c.2252C>G (p.Pro751Arg)
c.149C>G (p.Pro50Arg)
c.2591C>G (p.Pro864Arg)
c.911C>G (p.Pro304Arg)
Xg.108620325C>TCA413851384COL4A5c.2576C>T (p.Pro859Leu)
n.2032C>T
c.2252C>T (p.Pro751Leu)
c.149C>T (p.Pro50Leu)
c.2591C>T (p.Pro864Leu)
c.911C>T (p.Pro304Leu)
Xg.108620326A>CCA517924074COL4A5c.2577A>C (p.Pro859=)
n.2033A>C
c.2253A>C (p.Pro751=)
c.150A>C (p.Pro50=)
c.2592A>C (p.Pro864=)
c.912A>C (p.Pro304=)
Xg.108620326A>GCA517924075COL4A5c.2577A>G (p.Pro859=)
n.2033A>G
c.2253A>G (p.Pro751=)
c.150A>G (p.Pro50=)
c.2592A>G (p.Pro864=)
c.912A>G (p.Pro304=)
 ClinVar gnomAD v4
Xg.108620326A>TCA517924076COL4A5c.2577A>T (p.Pro859=)
n.2033A>T
c.2253A>T (p.Pro751=)
c.150A>T (p.Pro50=)
c.2592A>T (p.Pro864=)
c.912A>T (p.Pro304=)
Xg.108620327G>ACA413851386COL4A5c.2578G>A (p.Gly860Ser)
n.2034G>A
c.2254G>A (p.Gly752Ser)
c.151G>A (p.Gly51Ser)
c.2593G>A (p.Gly865Ser)
c.913G>A (p.Gly305Ser)
Xg.108620327G>CCA258711COL4A5c.2578G>C (p.Gly860Arg)
n.2034G>C
c.2254G>C (p.Gly752Arg)
c.151G>C (p.Gly51Arg)
c.2593G>C (p.Gly865Arg)
c.913G>C (p.Gly305Arg)
 dbSNP
Xg.108620327G=CA2450695952COL4A5c.2578G= (p.Gly860=)
n.2034G=
c.2254G= (p.Gly752=)
c.151G= (p.Gly51=)
c.2593G= (p.Gly865=)
c.913G= (p.Gly305=)
Xg.108620327G>TCA413851385COL4A5c.2578G>T (p.Gly860Cys)
n.2034G>T
c.2254G>T (p.Gly752Cys)
c.151G>T (p.Gly51Cys)
c.2593G>T (p.Gly865Cys)
c.913G>T (p.Gly305Cys)
Xg.108620328G>ACA413851389COL4A5c.2579G>A (p.Gly860Asp)
n.2035G>A
c.2255G>A (p.Gly752Asp)
c.152G>A (p.Gly51Asp)
c.2594G>A (p.Gly865Asp)
c.914G>A (p.Gly305Asp)
 ClinVar dbSNP
Xg.108620328G>CCA413851387COL4A5c.2579G>C (p.Gly860Ala)
n.2035G>C
c.2255G>C (p.Gly752Ala)
c.152G>C (p.Gly51Ala)
c.2594G>C (p.Gly865Ala)
c.914G>C (p.Gly305Ala)
Xg.108620328G=CA2450695953COL4A5c.2579G= (p.Gly860=)
n.2035G=
c.2255G= (p.Gly752=)
c.152G= (p.Gly51=)
c.2594G= (p.Gly865=)
c.914G= (p.Gly305=)
Xg.108620328G>TCA413851388COL4A5c.2579G>T (p.Gly860Val)
n.2035G>T
c.2255G>T (p.Gly752Val)
c.152G>T (p.Gly51Val)
c.2594G>T (p.Gly865Val)
c.914G>T (p.Gly305Val)
Xg.108620329T>ACA517924083COL4A5c.2580T>A (p.Gly860=)
n.2036T>A
c.2256T>A (p.Gly752=)
c.153T>A (p.Gly51=)
c.2595T>A (p.Gly865=)
c.915T>A (p.Gly305=)
Xg.108620329T>CCA517924084COL4A5c.2580T>C (p.Gly860=)
n.2036T>C
c.2256T>C (p.Gly752=)
c.153T>C (p.Gly51=)
c.2595T>C (p.Gly865=)
c.915T>C (p.Gly305=)
 ClinVar dbSNP
Xg.108620329T>GCA334048993COL4A5c.2580T>G (p.Gly860=)
n.2036T>G
c.2256T>G (p.Gly752=)
c.153T>G (p.Gly51=)
c.2595T>G (p.Gly865=)
c.915T>G (p.Gly305=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620329T=CA2450695954COL4A5c.2580T= (p.Gly860=)
n.2036T=
c.2256T= (p.Gly752=)
c.153T= (p.Gly51=)
c.2595T= (p.Gly865=)
c.915T= (p.Gly305=)
Xg.108620330G>ACA413851390COL4A5c.2581G>A (p.Glu861Lys)
n.2037G>A
c.2257G>A (p.Glu753Lys)
c.154G>A (p.Glu52Lys)
c.2596G>A (p.Glu866Lys)
c.916G>A (p.Glu306Lys)
Xg.108620330G>CCA413851391COL4A5c.2581G>C (p.Glu861Gln)
n.2037G>C
c.2257G>C (p.Glu753Gln)
c.154G>C (p.Glu52Gln)
c.2596G>C (p.Glu866Gln)
c.916G>C (p.Glu306Gln)
Xg.108620330G>TCA413851392COL4A5c.2581G>T (p.Glu861Ter)
n.2037G>T
c.2257G>T (p.Glu753Ter)
c.154G>T (p.Glu52Ter)
c.2596G>T (p.Glu866Ter)
c.916G>T (p.Glu306Ter)
Xg.108620331A>CCA413851393COL4A5c.2582A>C (p.Glu861Ala)
n.2038A>C
c.2258A>C (p.Glu753Ala)
c.155A>C (p.Glu52Ala)
c.2597A>C (p.Glu866Ala)
c.917A>C (p.Glu306Ala)
Xg.108620331A>GCA413851394COL4A5c.2582A>G (p.Glu861Gly)
n.2038A>G
c.2258A>G (p.Glu753Gly)
c.155A>G (p.Glu52Gly)
c.2597A>G (p.Glu866Gly)
c.917A>G (p.Glu306Gly)
 gnomAD v4
Xg.108620331A>TCA413851395COL4A5c.2582A>T (p.Glu861Val)
n.2038A>T
c.2258A>T (p.Glu753Val)
c.155A>T (p.Glu52Val)
c.2597A>T (p.Glu866Val)
c.917A>T (p.Glu306Val)
Xg.108620332A>CCA413851396COL4A5c.2583A>C (p.Glu861Asp)
n.2039A>C
c.2259A>C (p.Glu753Asp)
c.156A>C (p.Glu52Asp)
c.2598A>C (p.Glu866Asp)
c.918A>C (p.Glu306Asp)
Xg.108620332A>GCA517924092COL4A5c.2583A>G (p.Glu861=)
n.2039A>G
c.2259A>G (p.Glu753=)
c.156A>G (p.Glu52=)
c.2598A>G (p.Glu866=)
c.918A>G (p.Glu306=)
 dbSNP COSMIC COSMIC
Xg.108620332A>TCA413851397COL4A5c.2583A>T (p.Glu861Asp)
n.2039A>T
c.2259A>T (p.Glu753Asp)
c.156A>T (p.Glu52Asp)
c.2598A>T (p.Glu866Asp)
c.918A>T (p.Glu306Asp)
Xg.108620333A=CA2450695955COL4A5c.2584A= (p.Arg862=)
n.2040A=
c.2260A= (p.Arg754=)
c.157A= (p.Arg53=)
c.2599A= (p.Arg867=)
c.919A= (p.Arg307=)
Xg.108620333A>CCA517924093COL4A5c.2584A>C (p.Arg862=)
n.2040A>C
c.2260A>C (p.Arg754=)
c.157A>C (p.Arg53=)
c.2599A>C (p.Arg867=)
c.919A>C (p.Arg307=)
Xg.108620333A>GCA413851398COL4A5c.2584A>G (p.Arg862Gly)
n.2040A>G
c.2260A>G (p.Arg754Gly)
c.157A>G (p.Arg53Gly)
c.2599A>G (p.Arg867Gly)
c.919A>G (p.Arg307Gly)
 dbSNP gnomAD v4
Xg.108620333A>TCA413851399COL4A5c.2584A>T (p.Arg862Ter)
n.2040A>T
c.2260A>T (p.Arg754Ter)
c.157A>T (p.Arg53Ter)
c.2599A>T (p.Arg867Ter)
c.919A>T (p.Arg307Ter)
Xg.108620334G>ACA413851402COL4A5c.2585G>A (p.Arg862Lys)
n.2041G>A
c.2261G>A (p.Arg754Lys)
c.158G>A (p.Arg53Lys)
c.2600G>A (p.Arg867Lys)
c.920G>A (p.Arg307Lys)
Xg.108620334G>CCA413851400COL4A5c.2585G>C (p.Arg862Thr)
n.2041G>C
c.2261G>C (p.Arg754Thr)
c.158G>C (p.Arg53Thr)
c.2600G>C (p.Arg867Thr)
c.920G>C (p.Arg307Thr)
Xg.108620334G>TCA413851401COL4A5c.2585G>T (p.Arg862Ile)
n.2041G>T
c.2261G>T (p.Arg754Ile)
c.158G>T (p.Arg53Ile)
c.2600G>T (p.Arg867Ile)
c.920G>T (p.Arg307Ile)
Xg.108620334_108620406delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGCCA2450695956COL4A5c.2585_2657delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg862=)
n.2041_2113delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC
c.2261_2333delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg754=)
c.158_230delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg53=)
c.2600_2672delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg867=)
c.920_992delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg307=)
Xg.108620335A>CCA413851403COL4A5c.2586A>C (p.Arg862Ser)
n.2042A>C
c.2262A>C (p.Arg754Ser)
c.159A>C (p.Arg53Ser)
c.2601A>C (p.Arg867Ser)
c.921A>C (p.Arg307Ser)
Xg.108620335A>GCA517924100COL4A5c.2586A>G (p.Arg862=)
n.2042A>G
c.2262A>G (p.Arg754=)
c.159A>G (p.Arg53=)
c.2601A>G (p.Arg867=)
c.921A>G (p.Arg307=)
Xg.108620335A>TCA413851404COL4A5c.2586A>T (p.Arg862Ser)
n.2042A>T
c.2262A>T (p.Arg754Ser)
c.159A>T (p.Arg53Ser)
c.2601A>T (p.Arg867Ser)
c.921A>T (p.Arg307Ser)
Xg.108620338_108620373delCA2695235217COL4A5c.2589_2624del (p.Ser864_Gly875del)
n.2045_2080del
c.2265_2300del (p.Ser756_Gly767del)
c.162_197del (p.Ser55_Gly66del)
c.2604_2639del (p.Ser869_Gly880del)
c.924_959del (p.Ser309_Gly320del)
Xg.108620338_108620409delCA891843942COL4A5c.2589_2660del (p.Ser864_Gly887del)
n.2045_2116del
c.2265_2336del (p.Ser756_Gly779del)
c.162_233del (p.Ser55_Gly78del)
c.2604_2675del (p.Ser869_Gly892del)
c.924_995del (p.Ser309_Gly332del)
Xg.108620336G>ACA413851405COL4A5c.2587G>A (p.Gly863Ser)
n.2043G>A
c.2263G>A (p.Gly755Ser)
c.160G>A (p.Gly54Ser)
c.2602G>A (p.Gly868Ser)
c.922G>A (p.Gly308Ser)
 ClinVar dbSNP
Xg.108620336G>CCA413851406COL4A5c.2587G>C (p.Gly863Arg)
n.2043G>C
c.2263G>C (p.Gly755Arg)
c.160G>C (p.Gly54Arg)
c.2602G>C (p.Gly868Arg)
c.922G>C (p.Gly308Arg)
Xg.108620336G=CA2450695957COL4A5c.2587G= (p.Gly863=)
n.2043G=
c.2263G= (p.Gly755=)
c.160G= (p.Gly54=)
c.2602G= (p.Gly868=)
c.922G= (p.Gly308=)
Xg.108620336G>TCA413851407COL4A5c.2587G>T (p.Gly863Cys)
n.2043G>T
c.2263G>T (p.Gly755Cys)
c.160G>T (p.Gly54Cys)
c.2602G>T (p.Gly868Cys)
c.922G>T (p.Gly308Cys)
Xg.108620337G>ACA413851408COL4A5c.2588G>A (p.Gly863Asp)
n.2044G>A
c.2264G>A (p.Gly755Asp)
c.161G>A (p.Gly54Asp)
c.2603G>A (p.Gly868Asp)
c.923G>A (p.Gly308Asp)
Xg.108620337G>CCA413851409COL4A5c.2588G>C (p.Gly863Ala)
n.2044G>C
c.2264G>C (p.Gly755Ala)
c.161G>C (p.Gly54Ala)
c.2603G>C (p.Gly868Ala)
c.923G>C (p.Gly308Ala)
Xg.108620337G>TCA413851410COL4A5c.2588G>T (p.Gly863Val)
n.2044G>T
c.2264G>T (p.Gly755Val)
c.161G>T (p.Gly54Val)
c.2603G>T (p.Gly868Val)
c.923G>T (p.Gly308Val)
Xg.108620337_108620338delinsGCCA2450695958COL4A5c.2588_2589delinsGC (p.Gly863=)
n.2044_2045delinsGC
c.2264_2265delinsGC (p.Gly755=)
c.161_162delinsGC (p.Gly54=)
c.2603_2604delinsGC (p.Gly868=)
c.923_924delinsGC (p.Gly308=)
Xg.108620338delCA891843943COL4A5c.2589del (p.Ser864ValfsTer11)
n.2045del
c.2265del (p.Ser756ValfsTer11)
c.162del (p.Ser55ValfsTer11)
c.2604del (p.Ser869ValfsTer11)
c.924del (p.Ser309ValfsTer11)
Xg.108620338C>ACA517924105COL4A5c.2589C>A (p.Gly863=)
n.2045C>A
c.2265C>A (p.Gly755=)
c.162C>A (p.Gly54=)
c.2604C>A (p.Gly868=)
c.924C>A (p.Gly308=)
Xg.108620338C>GCA517924106COL4A5c.2589C>G (p.Gly863=)
n.2045C>G
c.2265C>G (p.Gly755=)
c.162C>G (p.Gly54=)
c.2604C>G (p.Gly868=)
c.924C>G (p.Gly308=)
Xg.108620338C>TCA517924107COL4A5c.2589C>T (p.Gly863=)
n.2045C>T
c.2265C>T (p.Gly755=)
c.162C>T (p.Gly54=)
c.2604C>T (p.Gly868=)
c.924C>T (p.Gly308=)
 gnomAD v4
Xg.108620338_108620374delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACA2450695959COL4A5c.2589_2625delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly863=)
n.2045_2081delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA
c.2265_2301delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly755=)
c.162_198delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly54=)
c.2604_2640delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly868=)
c.924_960delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly308=)
Xg.108620339A>CCA413851411COL4A5c.2590A>C (p.Ser864Arg)
n.2046A>C
c.2266A>C (p.Ser756Arg)
c.163A>C (p.Ser55Arg)
c.2605A>C (p.Ser869Arg)
c.925A>C (p.Ser309Arg)
Xg.108620339A>GCA413851412COL4A5c.2590A>G (p.Ser864Gly)
n.2046A>G
c.2266A>G (p.Ser756Gly)
c.163A>G (p.Ser55Gly)
c.2605A>G (p.Ser869Gly)
c.925A>G (p.Ser309Gly)
Xg.108620339A>TCA413851413COL4A5c.2590A>T (p.Ser864Cys)
n.2046A>T
c.2266A>T (p.Ser756Cys)
c.163A>T (p.Ser55Cys)
c.2605A>T (p.Ser869Cys)
c.925A>T (p.Ser309Cys)
Xg.108620339_108620374delCA334048999COL4A5c.2590_2625del (p.Ser864_Gly875del)
n.2046_2081del
c.2266_2301del (p.Ser756_Gly767del)
c.163_198del (p.Ser55_Gly66del)
c.2605_2640del (p.Ser869_Gly880del)
c.925_960del (p.Ser309_Gly320del)
 dbSNP
Xg.108620340G>ACA413851414COL4A5c.2591G>A (p.Ser864Asn)
n.2047G>A
c.2267G>A (p.Ser756Asn)
c.164G>A (p.Ser55Asn)
c.2606G>A (p.Ser869Asn)
c.926G>A (p.Ser309Asn)
Xg.108620340G>CCA413851415COL4A5c.2591G>C (p.Ser864Thr)
n.2047G>C
c.2267G>C (p.Ser756Thr)
c.164G>C (p.Ser55Thr)
c.2606G>C (p.Ser869Thr)
c.926G>C (p.Ser309Thr)
Xg.108620340G=CA2450695960COL4A5c.2591G= (p.Ser864=)
n.2047G=
c.2267G= (p.Ser756=)
c.164G= (p.Ser55=)
c.2606G= (p.Ser869=)
c.926G= (p.Ser309=)
Xg.108620340G>TCA334049006COL4A5c.2591G>T (p.Ser864Ile)
n.2047G>T
c.2267G>T (p.Ser756Ile)
c.164G>T (p.Ser55Ile)
c.2606G>T (p.Ser869Ile)
c.926G>T (p.Ser309Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.108620341T>ACA413851416COL4A5c.2592T>A (p.Ser864Arg)
n.2048T>A
c.2268T>A (p.Ser756Arg)
c.165T>A (p.Ser55Arg)
c.2607T>A (p.Ser869Arg)
c.927T>A (p.Ser309Arg)
Xg.108620341T>CCA517924116COL4A5c.2592T>C (p.Ser864=)
n.2048T>C
c.2268T>C (p.Ser756=)
c.165T>C (p.Ser55=)
c.2607T>C (p.Ser869=)
c.927T>C (p.Ser309=)
 gnomAD v4
Xg.108620341T>GCA413851417COL4A5c.2592T>G (p.Ser864Arg)
n.2048T>G
c.2268T>G (p.Ser756Arg)
c.165T>G (p.Ser55Arg)
c.2607T>G (p.Ser869Arg)
c.927T>G (p.Ser309Arg)
Xg.108620341_108620359delinsTCCAGGGATCCCCGGAGCACA2450695961COL4A5c.2592_2610delinsTCCAGGGATCCCCGGAGCA (p.Ser864=)
n.2048_2066delinsTCCAGGGATCCCCGGAGCA
c.2268_2286delinsTCCAGGGATCCCCGGAGCA (p.Ser756=)
c.165_183delinsTCCAGGGATCCCCGGAGCA (p.Ser55=)
c.2607_2625delinsTCCAGGGATCCCCGGAGCA (p.Ser869=)
c.927_945delinsTCCAGGGATCCCCGGAGCA (p.Ser309=)
Xg.108620342C>ACA413851418COL4A5c.2593C>A (p.Pro865Thr)
n.2049C>A
c.2269C>A (p.Pro757Thr)
c.166C>A (p.Pro56Thr)
c.2608C>A (p.Pro870Thr)
c.928C>A (p.Pro310Thr)
Xg.108620342C=CA2450695962COL4A5c.2593C= (p.Pro865=)
n.2049C=
c.2269C= (p.Pro757=)
c.166C= (p.Pro56=)
c.2608C= (p.Pro870=)
c.928C= (p.Pro310=)
Xg.108620342C>GCA10488949COL4A5c.2593C>G (p.Pro865Ala)
n.2049C>G
c.2269C>G (p.Pro757Ala)
c.166C>G (p.Pro56Ala)
c.2608C>G (p.Pro870Ala)
c.928C>G (p.Pro310Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620342C>TCA413851419COL4A5c.2593C>T (p.Pro865Ser)
n.2049C>T
c.2269C>T (p.Pro757Ser)
c.166C>T (p.Pro56Ser)
c.2608C>T (p.Pro870Ser)
c.928C>T (p.Pro310Ser)
Xg.108620344_108620361delCA258714COL4A5c.2595_2612del (p.Gly866_Pro871del)
n.2051_2068del
c.2271_2288del (p.Gly758_Pro763del)
c.168_185del (p.Gly57_Pro62del)
c.2610_2627del (p.Gly871_Pro876del)
c.930_947del (p.Gly311_Pro316del)
 dbSNP
Xg.108620343C>ACA413851423COL4A5c.2594C>A (p.Pro865Gln)
n.2050C>A
c.2270C>A (p.Pro757Gln)
c.167C>A (p.Pro56Gln)
c.2609C>A (p.Pro870Gln)
c.929C>A (p.Pro310Gln)
Xg.108620343C>GCA413851424COL4A5c.2594C>G (p.Pro865Arg)
n.2050C>G
c.2270C>G (p.Pro757Arg)
c.167C>G (p.Pro56Arg)
c.2609C>G (p.Pro870Arg)
c.929C>G (p.Pro310Arg)
Xg.108620343C>TCA413851426COL4A5c.2594C>T (p.Pro865Leu)
n.2050C>T
c.2270C>T (p.Pro757Leu)
c.167C>T (p.Pro56Leu)
c.2609C>T (p.Pro870Leu)
c.929C>T (p.Pro310Leu)
Xg.108620344A=CA2450695963COL4A5c.2595A= (p.Pro865=)
n.2051A=
c.2271A= (p.Pro757=)
c.168A= (p.Pro56=)
c.2610A= (p.Pro870=)
c.930A= (p.Pro310=)
Xg.108620344A>CCA517924120COL4A5c.2595A>C (p.Pro865=)
n.2051A>C
c.2271A>C (p.Pro757=)
c.168A>C (p.Pro56=)
c.2610A>C (p.Pro870=)
c.930A>C (p.Pro310=)
Xg.108620344A>GCA517924121COL4A5c.2595A>G (p.Pro865=)
n.2051A>G
c.2271A>G (p.Pro757=)
c.168A>G (p.Pro56=)
c.2610A>G (p.Pro870=)
c.930A>G (p.Pro310=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620344A>TCA517924122COL4A5c.2595A>T (p.Pro865=)
n.2051A>T
c.2271A>T (p.Pro757=)
c.168A>T (p.Pro56=)
c.2610A>T (p.Pro870=)
c.930A>T (p.Pro310=)
Xg.108620345G>ACA413851429COL4A5c.2596G>A (p.Gly866Arg)
n.2052G>A
c.2272G>A (p.Gly758Arg)
c.169G>A (p.Gly57Arg)
c.2611G>A (p.Gly871Arg)
c.931G>A (p.Gly311Arg)
Xg.108620345G>CCA413851430COL4A5c.2596G>C (p.Gly866Arg)
n.2052G>C
c.2272G>C (p.Gly758Arg)
c.169G>C (p.Gly57Arg)
c.2611G>C (p.Gly871Arg)
c.931G>C (p.Gly311Arg)
Xg.108620345G>TCA413851432COL4A5c.2596G>T (p.Gly866Trp)
n.2052G>T
c.2272G>T (p.Gly758Trp)
c.169G>T (p.Gly57Trp)
c.2611G>T (p.Gly871Trp)
c.931G>T (p.Gly311Trp)
 COSMIC
Xg.108620346G>ACA258717COL4A5c.2597G>A (p.Gly866Glu)
n.2053G>A
c.2273G>A (p.Gly758Glu)
c.170G>A (p.Gly57Glu)
c.2612G>A (p.Gly871Glu)
c.932G>A (p.Gly311Glu)
 ClinVar dbSNP
Xg.108620346G>CCA413851438COL4A5c.2597G>C (p.Gly866Ala)
n.2053G>C
c.2273G>C (p.Gly758Ala)
c.170G>C (p.Gly57Ala)
c.2612G>C (p.Gly871Ala)
c.932G>C (p.Gly311Ala)
Xg.108620346G=CA2450695964COL4A5c.2597G= (p.Gly866=)
n.2053G=
c.2273G= (p.Gly758=)
c.170G= (p.Gly57=)
c.2612G= (p.Gly871=)
c.932G= (p.Gly311=)
Xg.108620346G>TCA413851435COL4A5c.2597G>T (p.Gly866Val)
n.2053G>T
c.2273G>T (p.Gly758Val)
c.170G>T (p.Gly57Val)
c.2612G>T (p.Gly871Val)
c.932G>T (p.Gly311Val)
 COSMIC COSMIC
Xg.108620347G>ACA517924127COL4A5c.2598G>A (p.Gly866=)
n.2054G>A
c.2274G>A (p.Gly758=)
c.171G>A (p.Gly57=)
c.2613G>A (p.Gly871=)
c.933G>A (p.Gly311=)
Xg.108620347G>CCA10488950COL4A5c.2598G>C (p.Gly866=)
n.2054G>C
c.2274G>C (p.Gly758=)
c.171G>C (p.Gly57=)
c.2613G>C (p.Gly871=)
c.933G>C (p.Gly311=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620347G=CA2450695965COL4A5c.2598G= (p.Gly866=)
n.2054G=
c.2274G= (p.Gly758=)
c.171G= (p.Gly57=)
c.2613G= (p.Gly871=)
c.933G= (p.Gly311=)
Xg.108620347G>TCA517924128COL4A5c.2598G>T (p.Gly866=)
n.2054G>T
c.2274G>T (p.Gly758=)
c.171G>T (p.Gly57=)
c.2613G>T (p.Gly871=)
c.933G>T (p.Gly311=)
Xg.108620348A>CCA413851439COL4A5c.2599A>C (p.Ile867Leu)
n.2055A>C
c.2275A>C (p.Ile759Leu)
c.172A>C (p.Ile58Leu)
c.2614A>C (p.Ile872Leu)
c.934A>C (p.Ile312Leu)
Xg.108620348A>GCA413851440COL4A5c.2599A>G (p.Ile867Val)
n.2055A>G
c.2275A>G (p.Ile759Val)
c.172A>G (p.Ile58Val)
c.2614A>G (p.Ile872Val)
c.934A>G (p.Ile312Val)
Xg.108620348A>TCA413851442COL4A5c.2599A>T (p.Ile867Phe)
n.2055A>T
c.2275A>T (p.Ile759Phe)
c.172A>T (p.Ile58Phe)
c.2614A>T (p.Ile872Phe)
c.934A>T (p.Ile312Phe)
Xg.108620349T>ACA413851443COL4A5c.2600T>A (p.Ile867Asn)
n.2056T>A
c.2276T>A (p.Ile759Asn)
c.173T>A (p.Ile58Asn)
c.2615T>A (p.Ile872Asn)
c.935T>A (p.Ile312Asn)
Xg.108620349T>CCA10488951COL4A5c.2600T>C (p.Ile867Thr)
n.2056T>C
c.2276T>C (p.Ile759Thr)
c.173T>C (p.Ile58Thr)
c.2615T>C (p.Ile872Thr)
c.935T>C (p.Ile312Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108620349T>GCA413851446COL4A5c.2600T>G (p.Ile867Ser)
n.2056T>G
c.2276T>G (p.Ile759Ser)
c.173T>G (p.Ile58Ser)
c.2615T>G (p.Ile872Ser)
c.935T>G (p.Ile312Ser)
Xg.108620349T=CA2450695966COL4A5c.2600T= (p.Ile867=)
n.2056T=
c.2276T= (p.Ile759=)
c.173T= (p.Ile58=)
c.2615T= (p.Ile872=)
c.935T= (p.Ile312=)
Xg.108620349dupCA2739290539COL4A5c.2600dup (p.Gly869ArgfsTer29)
n.2056dup
c.2276dup (p.Gly761ArgfsTer29)
c.173dup (p.Gly60ArgfsTer29)
c.2615dup (p.Gly874ArgfsTer29)
c.935dup (p.Gly314ArgfsTer29)
Xg.108620349_108620350delinsTCCA2450695967COL4A5c.2600_2601delinsTC (p.Ile867=)
n.2056_2057delinsTC
c.2276_2277delinsTC (p.Ile759=)
c.173_174delinsTC (p.Ile58=)
c.2615_2616delinsTC (p.Ile872=)
c.935_936delinsTC (p.Ile312=)
Xg.108620350C>ACA517924135COL4A5c.2601C>A (p.Ile867=)
n.2057C>A
c.2277C>A (p.Ile759=)
c.174C>A (p.Ile58=)
c.2616C>A (p.Ile872=)
c.936C>A (p.Ile312=)
Xg.108620350C>GCA413851448COL4A5c.2601C>G (p.Ile867Met)
n.2057C>G
c.2277C>G (p.Ile759Met)
c.174C>G (p.Ile58Met)
c.2616C>G (p.Ile872Met)
c.936C>G (p.Ile312Met)
 gnomAD v4
Xg.108620350C>TCA517924136COL4A5c.2601C>T (p.Ile867=)
n.2057C>T
c.2277C>T (p.Ile759=)
c.174C>T (p.Ile58=)
c.2616C>T (p.Ile872=)
c.936C>T (p.Ile312=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108620353delCA658656866COL4A5c.2604del (p.Gly869GlufsTer6)
n.2060del
c.2280del (p.Gly761GlufsTer6)
c.177del (p.Gly60GlufsTer6)
c.2619del (p.Gly874GlufsTer6)
c.939del (p.Gly314GlufsTer6)
 ClinVar dbSNP
Xg.108620351C>ACA413851451COL4A5c.2602C>A (p.Pro868Thr)
n.2058C>A
c.2278C>A (p.Pro760Thr)
c.175C>A (p.Pro59Thr)
c.2617C>A (p.Pro873Thr)
c.937C>A (p.Pro313Thr)
Xg.108620351C>GCA413851452COL4A5c.2602C>G (p.Pro868Ala)
n.2058C>G
c.2278C>G (p.Pro760Ala)
c.175C>G (p.Pro59Ala)
c.2617C>G (p.Pro873Ala)
c.937C>G (p.Pro313Ala)
 dbSNP
Xg.108620351C>TCA413851455COL4A5c.2602C>T (p.Pro868Ser)
n.2058C>T
c.2278C>T (p.Pro760Ser)
c.175C>T (p.Pro59Ser)
c.2617C>T (p.Pro873Ser)
c.937C>T (p.Pro313Ser)
Xg.108620352C>ACA413851457COL4A5c.2603C>A (p.Pro868His)
n.2059C>A
c.2279C>A (p.Pro760His)
c.176C>A (p.Pro59His)
c.2618C>A (p.Pro873His)
c.938C>A (p.Pro313His)
Xg.108620352C>GCA413851458COL4A5c.2603C>G (p.Pro868Arg)
n.2059C>G
c.2279C>G (p.Pro760Arg)
c.176C>G (p.Pro59Arg)
c.2618C>G (p.Pro873Arg)
c.938C>G (p.Pro313Arg)
Xg.108620352C>TCA413851459COL4A5c.2603C>T (p.Pro868Leu)
n.2059C>T
c.2279C>T (p.Pro760Leu)
c.176C>T (p.Pro59Leu)
c.2618C>T (p.Pro873Leu)
c.938C>T (p.Pro313Leu)
Xg.108620353C>ACA517924144COL4A5c.2604C>A (p.Pro868=)
n.2060C>A
c.2280C>A (p.Pro760=)
c.177C>A (p.Pro59=)
c.2619C>A (p.Pro873=)
c.939C>A (p.Pro313=)
Xg.108620353C=CA2450695968COL4A5c.2604C= (p.Pro868=)
n.2060C=
c.2280C= (p.Pro760=)
c.177C= (p.Pro59=)
c.2619C= (p.Pro873=)
c.939C= (p.Pro313=)
Xg.108620353C>GCA334049054COL4A5c.2604C>G (p.Pro868=)
n.2060C>G
c.2280C>G (p.Pro760=)
c.177C>G (p.Pro59=)
c.2619C>G (p.Pro873=)
c.939C>G (p.Pro313=)
 ClinVar dbSNP gnomAD v4
Xg.108620353C>TCA334049071COL4A5c.2604C>T (p.Pro868=)
n.2060C>T
c.2280C>T (p.Pro760=)
c.177C>T (p.Pro59=)
c.2619C>T (p.Pro873=)
c.939C>T (p.Pro313=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620354G>ACA258720COL4A5c.2605G>A (p.Gly869Arg)
n.2061G>A
c.2281G>A (p.Gly761Arg)
c.178G>A (p.Gly60Arg)
c.2620G>A (p.Gly874Arg)
c.940G>A (p.Gly314Arg)
 ClinVar dbSNP gnomAD v4
Xg.108620354G>CCA413851463COL4A5c.2605G>C (p.Gly869Arg)
n.2061G>C
c.2281G>C (p.Gly761Arg)
c.178G>C (p.Gly60Arg)
c.2620G>C (p.Gly874Arg)
c.940G>C (p.Gly314Arg)
Xg.108620354G=CA2450695969COL4A5c.2605G= (p.Gly869=)
n.2061G=
c.2281G= (p.Gly761=)
c.178G= (p.Gly60=)
c.2620G= (p.Gly874=)
c.940G= (p.Gly314=)
Xg.108620354G>TCA413851461COL4A5c.2605G>T (p.Gly869Ter)
n.2061G>T
c.2281G>T (p.Gly761Ter)
c.178G>T (p.Gly60Ter)
c.2620G>T (p.Gly874Ter)
c.940G>T (p.Gly314Ter)
Xg.108620355_108620357dupCA2695235218COL4A5c.2606_2608dup (p.Gly869_Ala870insGly)
n.2062_2064dup
c.2282_2284dup (p.Gly761_Ala762insGly)
c.179_181dup (p.Gly60_Ala61insGly)
c.2621_2623dup (p.Gly874_Ala875insGly)
c.941_943dup (p.Gly314_Ala315insGly)
Xg.108620355G>ACA413851468COL4A5c.2606G>A (p.Gly869Glu)
n.2062G>A
c.2282G>A (p.Gly761Glu)
c.179G>A (p.Gly60Glu)
c.2621G>A (p.Gly874Glu)
c.941G>A (p.Gly314Glu)
Xg.108620355G>CCA413851465COL4A5c.2606G>C (p.Gly869Ala)
n.2062G>C
c.2282G>C (p.Gly761Ala)
c.179G>C (p.Gly60Ala)
c.2621G>C (p.Gly874Ala)
c.941G>C (p.Gly314Ala)
Xg.108620355G=CA2450695970COL4A5c.2606G= (p.Gly869=)
n.2062G=
c.2282G= (p.Gly761=)
c.179G= (p.Gly60=)
c.2621G= (p.Gly874=)
c.941G= (p.Gly314=)
Xg.108620355G>TCA413851469COL4A5c.2606G>T (p.Gly869Val)
n.2062G>T
c.2282G>T (p.Gly761Val)
c.179G>T (p.Gly60Val)
c.2621G>T (p.Gly874Val)
c.941G>T (p.Gly314Val)
 ClinVar dbSNP
Xg.108620356A=CA2450695971COL4A5c.2607A= (p.Gly869=)
n.2063A=
c.2283A= (p.Gly761=)
c.180A= (p.Gly60=)
c.2622A= (p.Gly874=)
c.942A= (p.Gly314=)
Xg.108620356A>CCA517924150COL4A5c.2607A>C (p.Gly869=)
n.2063A>C
c.2283A>C (p.Gly761=)
c.180A>C (p.Gly60=)
c.2622A>C (p.Gly874=)
c.942A>C (p.Gly314=)
Xg.108620356A>GCA10488952COL4A5c.2607A>G (p.Gly869=)
n.2063A>G
c.2283A>G (p.Gly761=)
c.180A>G (p.Gly60=)
c.2622A>G (p.Gly874=)
c.942A>G (p.Gly314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108620356A>TCA517924151COL4A5c.2607A>T (p.Gly869=)
n.2063A>T
c.2283A>T (p.Gly761=)
c.180A>T (p.Gly60=)
c.2622A>T (p.Gly874=)
c.942A>T (p.Gly314=)
Xg.108620357G>ACA413851477COL4A5c.2608G>A (p.Ala870Thr)
n.2064G>A
c.2284G>A (p.Ala762Thr)
c.181G>A (p.Ala61Thr)
c.2623G>A (p.Ala875Thr)
c.943G>A (p.Ala315Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.108620357G>CCA413851474COL4A5c.2608G>C (p.Ala870Pro)
n.2064G>C
c.2284G>C (p.Ala762Pro)
c.181G>C (p.Ala61Pro)
c.2623G>C (p.Ala875Pro)
c.943G>C (p.Ala315Pro)
Xg.108620357G=CA2450695972COL4A5c.2608G= (p.Ala870=)
n.2064G=
c.2284G= (p.Ala762=)
c.181G= (p.Ala61=)
c.2623G= (p.Ala875=)
c.943G= (p.Ala315=)
Xg.108620357G>TCA413851476COL4A5c.2608G>T (p.Ala870Ser)
n.2064G>T
c.2284G>T (p.Ala762Ser)
c.181G>T (p.Ala61Ser)
c.2623G>T (p.Ala875Ser)
c.943G>T (p.Ala315Ser)
Xg.108620358C>ACA413851478COL4A5c.2609C>A (p.Ala870Glu)
n.2065C>A
c.2285C>A (p.Ala762Glu)
c.182C>A (p.Ala61Glu)
c.2624C>A (p.Ala875Glu)
c.944C>A (p.Ala315Glu)
Xg.108620358C>GCA413851480COL4A5c.2609C>G (p.Ala870Gly)
n.2065C>G
c.2285C>G (p.Ala762Gly)
c.182C>G (p.Ala61Gly)
c.2624C>G (p.Ala875Gly)
c.944C>G (p.Ala315Gly)
Xg.108620358C>TCA413851482COL4A5c.2609C>T (p.Ala870Val)
n.2065C>T
c.2285C>T (p.Ala762Val)
c.182C>T (p.Ala61Val)
c.2624C>T (p.Ala875Val)
c.944C>T (p.Ala315Val)
 gnomAD v4
Xg.108620359A>CCA517924157COL4A5c.2610A>C (p.Ala870=)
n.2066A>C
c.2286A>C (p.Ala762=)
c.183A>C (p.Ala61=)
c.2625A>C (p.Ala875=)
c.945A>C (p.Ala315=)
Xg.108620359A>GCA517924158COL4A5c.2610A>G (p.Ala870=)
n.2066A>G
c.2286A>G (p.Ala762=)
c.183A>G (p.Ala61=)
c.2625A>G (p.Ala875=)
c.945A>G (p.Ala315=)
 ClinVar
Xg.108620359A>TCA517924159COL4A5c.2610A>T (p.Ala870=)
n.2066A>T
c.2286A>T (p.Ala762=)
c.183A>T (p.Ala61=)
c.2625A>T (p.Ala875=)
c.945A>T (p.Ala315=)
Xg.108620360C>ACA413851484COL4A5c.2611C>A (p.Pro871Thr)
n.2067C>A
c.2287C>A (p.Pro763Thr)
c.184C>A (p.Pro62Thr)
c.2626C>A (p.Pro876Thr)
c.946C>A (p.Pro316Thr)
Xg.108620360C>GCA413851486COL4A5c.2611C>G (p.Pro871Ala)
n.2067C>G
c.2287C>G (p.Pro763Ala)
c.184C>G (p.Pro62Ala)
c.2626C>G (p.Pro876Ala)
c.946C>G (p.Pro316Ala)
Xg.108620360C>TCA413851488COL4A5c.2611C>T (p.Pro871Ser)
n.2067C>T
c.2287C>T (p.Pro763Ser)
c.184C>T (p.Pro62Ser)
c.2626C>T (p.Pro876Ser)
c.946C>T (p.Pro316Ser)
Xg.108620361C>ACA413851490COL4A5c.2612C>A (p.Pro871His)
n.2068C>A
c.2288C>A (p.Pro763His)
c.185C>A (p.Pro62His)
c.2627C>A (p.Pro876His)
c.947C>A (p.Pro316His)
Xg.108620361C>GCA413851492COL4A5c.2612C>G (p.Pro871Arg)
n.2068C>G
c.2288C>G (p.Pro763Arg)
c.185C>G (p.Pro62Arg)
c.2627C>G (p.Pro876Arg)
c.947C>G (p.Pro316Arg)
 gnomAD v4
Xg.108620361C>TCA413851494COL4A5c.2612C>T (p.Pro871Leu)
n.2068C>T
c.2288C>T (p.Pro763Leu)
c.185C>T (p.Pro62Leu)
c.2627C>T (p.Pro876Leu)
c.947C>T (p.Pro316Leu)
Xg.108620362T>ACA517924165COL4A5c.2613T>A (p.Pro871=)
n.2069T>A
c.2289T>A (p.Pro763=)
c.186T>A (p.Pro62=)
c.2628T>A (p.Pro876=)
c.948T>A (p.Pro316=)
Xg.108620362T>CCA517924167COL4A5c.2613T>C (p.Pro871=)
n.2069T>C
c.2289T>C (p.Pro763=)
c.186T>C (p.Pro62=)
c.2628T>C (p.Pro876=)
c.948T>C (p.Pro316=)
 ClinVar
Xg.108620362T>GCA517924169COL4A5c.2613T>G (p.Pro871=)
n.2069T>G
c.2289T>G (p.Pro763=)
c.186T>G (p.Pro62=)
c.2628T>G (p.Pro876=)
c.948T>G (p.Pro316=)
Xg.108620363G>ACA413851499COL4A5c.2614G>A (p.Gly872Ser)
n.2070G>A
c.2290G>A (p.Gly764Ser)
c.187G>A (p.Gly63Ser)
c.2629G>A (p.Gly877Ser)
c.949G>A (p.Gly317Ser)
Xg.108620363G>CCA258722COL4A5c.2614G>C (p.Gly872Arg)
n.2070G>C
c.2290G>C (p.Gly764Arg)
c.187G>C (p.Gly63Arg)
c.2629G>C (p.Gly877Arg)
c.949G>C (p.Gly317Arg)
 dbSNP
Xg.108620363G=CA2450695973COL4A5c.2614G= (p.Gly872=)
n.2070G=
c.2290G= (p.Gly764=)
c.187G= (p.Gly63=)
c.2629G= (p.Gly877=)
c.949G= (p.Gly317=)
Xg.108620363G>TCA413851496COL4A5c.2614G>T (p.Gly872Cys)
n.2070G>T
c.2290G>T (p.Gly764Cys)
c.187G>T (p.Gly63Cys)
c.2629G>T (p.Gly877Cys)
c.949G>T (p.Gly317Cys)
 ClinVar dbSNP
Xg.108620364G>ACA413851501COL4A5c.2615G>A (p.Gly872Asp)
n.2071G>A
c.2291G>A (p.Gly764Asp)
c.188G>A (p.Gly63Asp)
c.2630G>A (p.Gly877Asp)
c.950G>A (p.Gly317Asp)
 ClinVar dbSNP
Xg.108620364G>CCA413851503COL4A5c.2615G>C (p.Gly872Ala)
n.2071G>C
c.2291G>C (p.Gly764Ala)
c.188G>C (p.Gly63Ala)
c.2630G>C (p.Gly877Ala)
c.950G>C (p.Gly317Ala)
 ClinVar dbSNP
Xg.108620364G=CA2450695974COL4A5c.2615G= (p.Gly872=)
n.2071G=
c.2291G= (p.Gly764=)
c.188G= (p.Gly63=)
c.2630G= (p.Gly877=)
c.950G= (p.Gly317=)
Xg.108620364G>TCA413851505COL4A5c.2615G>T (p.Gly872Val)
n.2071G>T
c.2291G>T (p.Gly764Val)
c.188G>T (p.Gly63Val)
c.2630G>T (p.Gly877Val)
c.950G>T (p.Gly317Val)
 dbSNP COSMIC COSMIC
Xg.108620365T>ACA517924171COL4A5c.2616T>A (p.Gly872=)
n.2072T>A
c.2292T>A (p.Gly764=)
c.189T>A (p.Gly63=)
c.2631T>A (p.Gly877=)
c.951T>A (p.Gly317=)
Xg.108620365T>CCA517924172COL4A5c.2616T>C (p.Gly872=)
n.2072T>C
c.2292T>C (p.Gly764=)
c.189T>C (p.Gly63=)
c.2631T>C (p.Gly877=)
c.951T>C (p.Gly317=)
Xg.108620365T>GCA517924173COL4A5c.2616T>G (p.Gly872=)
n.2072T>G
c.2292T>G (p.Gly764=)
c.189T>G (p.Gly63=)
c.2631T>G (p.Gly877=)
c.951T>G (p.Gly317=)
Xg.108620366C>ACA413851507COL4A5c.2617C>A (p.Pro873Thr)
n.2073C>A
c.2293C>A (p.Pro765Thr)
c.190C>A (p.Pro64Thr)
c.2632C>A (p.Pro878Thr)
c.952C>A (p.Pro318Thr)
Xg.108620366C>GCA413851509COL4A5c.2617C>G (p.Pro873Ala)
n.2073C>G
c.2293C>G (p.Pro765Ala)
c.190C>G (p.Pro64Ala)
c.2632C>G (p.Pro878Ala)
c.952C>G (p.Pro318Ala)
Xg.108620366C>TCA413851511COL4A5c.2617C>T (p.Pro873Ser)
n.2073C>T
c.2293C>T (p.Pro765Ser)
c.190C>T (p.Pro64Ser)
c.2632C>T (p.Pro878Ser)
c.952C>T (p.Pro318Ser)
 COSMIC
Xg.108620367C>ACA413851514COL4A5c.2618C>A (p.Pro873His)
n.2074C>A
c.2294C>A (p.Pro765His)
c.191C>A (p.Pro64His)
c.2633C>A (p.Pro878His)
c.953C>A (p.Pro318His)
Xg.108620367C>GCA413851515COL4A5c.2618C>G (p.Pro873Arg)
n.2074C>G
c.2294C>G (p.Pro765Arg)
c.191C>G (p.Pro64Arg)
c.2633C>G (p.Pro878Arg)
c.953C>G (p.Pro318Arg)
Xg.108620367C>TCA413851517COL4A5c.2618C>T (p.Pro873Leu)
n.2074C>T
c.2294C>T (p.Pro765Leu)
c.191C>T (p.Pro64Leu)
c.2633C>T (p.Pro878Leu)
c.953C>T (p.Pro318Leu)
Xg.108620368T>ACA517924178COL4A5c.2619T>A (p.Pro873=)
n.2075T>A
c.2295T>A (p.Pro765=)
c.192T>A (p.Pro64=)
c.2634T>A (p.Pro878=)
c.954T>A (p.Pro318=)
Xg.108620368T>CCA517924179COL4A5c.2619T>C (p.Pro873=)
n.2075T>C
c.2295T>C (p.Pro765=)
c.192T>C (p.Pro64=)
c.2634T>C (p.Pro878=)
c.954T>C (p.Pro318=)
Xg.108620368T>GCA517924180COL4A5c.2619T>G (p.Pro873=)
n.2075T>G
c.2295T>G (p.Pro765=)
c.192T>G (p.Pro64=)
c.2634T>G (p.Pro878=)
c.954T>G (p.Pro318=)
Xg.108620369A=CA2450695975COL4A5c.2620A= (p.Ile874=)
n.2076A=
c.2296A= (p.Ile766=)
c.193A= (p.Ile65=)
c.2635A= (p.Ile879=)
c.955A= (p.Ile319=)
Xg.108620369A>CCA413851520COL4A5c.2620A>C (p.Ile874Leu)
n.2076A>C
c.2296A>C (p.Ile766Leu)
c.193A>C (p.Ile65Leu)
c.2635A>C (p.Ile879Leu)
c.955A>C (p.Ile319Leu)
Xg.108620369A>GCA413851521COL4A5c.2620A>G (p.Ile874Val)
n.2076A>G
c.2296A>G (p.Ile766Val)
c.193A>G (p.Ile65Val)
c.2635A>G (p.Ile879Val)
c.955A>G (p.Ile319Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.108620369A>TCA413851523COL4A5c.2620A>T (p.Ile874Leu)
n.2076A>T
c.2296A>T (p.Ile766Leu)
c.193A>T (p.Ile65Leu)
c.2635A>T (p.Ile879Leu)
c.955A>T (p.Ile319Leu)
Xg.108620370T>ACA413851529COL4A5c.2621T>A (p.Ile874Lys)
n.2077T>A
c.2297T>A (p.Ile766Lys)
c.194T>A (p.Ile65Lys)
c.2636T>A (p.Ile879Lys)
c.956T>A (p.Ile319Lys)
Xg.108620370T>CCA413851527COL4A5c.2621T>C (p.Ile874Thr)
n.2077T>C
c.2297T>C (p.Ile766Thr)
c.194T>C (p.Ile65Thr)
c.2636T>C (p.Ile879Thr)
c.956T>C (p.Ile319Thr)
Xg.108620370T>GCA413851526COL4A5c.2621T>G (p.Ile874Arg)
n.2077T>G
c.2297T>G (p.Ile766Arg)
c.194T>G (p.Ile65Arg)
c.2636T>G (p.Ile879Arg)
c.956T>G (p.Ile319Arg)
Xg.108620371A>CCA517924181COL4A5c.2622A>C (p.Ile874=)
n.2078A>C
c.2298A>C (p.Ile766=)
c.195A>C (p.Ile65=)
c.2637A>C (p.Ile879=)
c.957A>C (p.Ile319=)
Xg.108620371A>GCA413851531COL4A5c.2622A>G (p.Ile874Met)
n.2078A>G
c.2298A>G (p.Ile766Met)
c.195A>G (p.Ile65Met)
c.2637A>G (p.Ile879Met)
c.957A>G (p.Ile319Met)
Xg.108620371A>TCA517924182COL4A5c.2622A>T (p.Ile874=)
n.2078A>T
c.2298A>T (p.Ile766=)
c.195A>T (p.Ile65=)
c.2637A>T (p.Ile879=)
c.957A>T (p.Ile319=)
Xg.108620372G>ACA413851534COL4A5c.2623G>A (p.Gly875Arg)
n.2079G>A
c.2299G>A (p.Gly767Arg)
c.196G>A (p.Gly66Arg)
c.2638G>A (p.Gly880Arg)
c.958G>A (p.Gly320Arg)
Xg.108620372G>CCA261079COL4A5c.2623G>C (p.Gly875Arg)
n.2079G>C
c.2299G>C (p.Gly767Arg)
c.196G>C (p.Gly66Arg)
c.2638G>C (p.Gly880Arg)
c.958G>C (p.Gly320Arg)
 dbSNP
Xg.108620372G=CA2450695976COL4A5c.2623G= (p.Gly875=)
n.2079G=
c.2299G= (p.Gly767=)
c.196G= (p.Gly66=)
c.2638G= (p.Gly880=)
c.958G= (p.Gly320=)
Xg.108620372G>TCA413851536COL4A5c.2623G>T (p.Gly875Ter)
n.2079G>T
c.2299G>T (p.Gly767Ter)
c.196G>T (p.Gly66Ter)
c.2638G>T (p.Gly880Ter)
c.958G>T (p.Gly320Ter)
Xg.108620373G>ACA258724COL4A5c.2624G>A (p.Gly875Glu)
n.2080G>A
c.2300G>A (p.Gly767Glu)
c.197G>A (p.Gly66Glu)
c.2639G>A (p.Gly880Glu)
c.959G>A (p.Gly320Glu)
 ClinVar dbSNP
Xg.108620373G>CCA413851539COL4A5c.2624G>C (p.Gly875Ala)
n.2080G>C
c.2300G>C (p.Gly767Ala)
c.197G>C (p.Gly66Ala)
c.2639G>C (p.Gly880Ala)
c.959G>C (p.Gly320Ala)
Xg.108620373G=CA2450695977COL4A5c.2624G= (p.Gly875=)
n.2080G=
c.2300G= (p.Gly767=)
c.197G= (p.Gly66=)
c.2639G= (p.Gly880=)
c.959G= (p.Gly320=)
Xg.108620373G>TCA413851541COL4A5c.2624G>T (p.Gly875Val)
n.2080G>T
c.2300G>T (p.Gly767Val)
c.197G>T (p.Gly66Val)
c.2639G>T (p.Gly880Val)
c.959G>T (p.Gly320Val)
Xg.108620373_108620374delinsGACA2450695978COL4A5c.2624_2625delinsGA (p.Gly875=)
n.2080_2081delinsGA
c.2300_2301delinsGA (p.Gly767=)
c.197_198delinsGA (p.Gly66=)
c.2639_2640delinsGA (p.Gly880=)
c.959_960delinsGA (p.Gly320=)
Xg.108620374delCA258727COL4A5c.2625del (p.Pro876LeufsTer25)
n.2081del
c.2301del (p.Pro768LeufsTer25)
c.198del (p.Pro67LeufsTer25)
c.2640del (p.Pro881LeufsTer25)
c.960del (p.Pro321LeufsTer25)
 dbSNP
Xg.108620374A=CA2580701031COL4A5c.2625A= (p.Gly875=)
n.2081A=
c.2301A= (p.Gly767=)
c.198A= (p.Gly66=)
c.2640A= (p.Gly880=)
c.960A= (p.Gly320=)
Xg.108620374A>CCA517924186COL4A5c.2625A>C (p.Gly875=)
n.2081A>C
c.2301A>C (p.Gly767=)
c.198A>C (p.Gly66=)
c.2640A>C (p.Gly880=)
c.960A>C (p.Gly320=)
Xg.108620374A>GCA517924187COL4A5c.2625A>G (p.Gly875=)
n.2081A>G
c.2301A>G (p.Gly767=)
c.198A>G (p.Gly66=)
c.2640A>G (p.Gly880=)
c.960A>G (p.Gly320=)
Xg.108620374A>TCA517924188COL4A5c.2625A>T (p.Gly875=)
n.2081A>T
c.2301A>T (p.Gly767=)
c.198A>T (p.Gly66=)
c.2640A>T (p.Gly880=)
c.960A>T (p.Gly320=)
Xg.108620375C>ACA413851545COL4A5c.2626C>A (p.Pro876Thr)
n.2082C>A
c.2302C>A (p.Pro768Thr)
c.199C>A (p.Pro67Thr)
c.2641C>A (p.Pro881Thr)
c.961C>A (p.Pro321Thr)
Xg.108620375C=CA2450695979COL4A5c.2626C= (p.Pro876=)
n.2082C=
c.2302C= (p.Pro768=)
c.199C= (p.Pro67=)
c.2641C= (p.Pro881=)
c.961C= (p.Pro321=)
Xg.108620375C>GCA413851547COL4A5c.2626C>G (p.Pro876Ala)
n.2082C>G
c.2302C>G (p.Pro768Ala)
c.199C>G (p.Pro67Ala)
c.2641C>G (p.Pro881Ala)
c.961C>G (p.Pro321Ala)
Xg.108620375C>TCA413851549COL4A5c.2626C>T (p.Pro876Ser)
n.2082C>T
c.2302C>T (p.Pro768Ser)
c.199C>T (p.Pro67Ser)
c.2641C>T (p.Pro881Ser)
c.961C>T (p.Pro321Ser)
 dbSNP
Xg.108620376C>ACA413851555COL4A5c.2627C>A (p.Pro876His)
n.2083C>A
c.2303C>A (p.Pro768His)
c.200C>A (p.Pro67His)
c.2642C>A (p.Pro881His)
c.962C>A (p.Pro321His)
 dbSNP
Xg.108620376C=CA2450695980COL4A5c.2627C= (p.Pro876=)
n.2083C=
c.2303C= (p.Pro768=)
c.200C= (p.Pro67=)
c.2642C= (p.Pro881=)
c.962C= (p.Pro321=)
Xg.108620376C>GCA413851553COL4A5c.2627C>G (p.Pro876Arg)
n.2083C>G
c.2303C>G (p.Pro768Arg)
c.200C>G (p.Pro67Arg)
c.2642C>G (p.Pro881Arg)
c.962C>G (p.Pro321Arg)
Xg.108620376C>TCA413851551COL4A5c.2627C>T (p.Pro876Leu)
n.2083C>T
c.2303C>T (p.Pro768Leu)
c.200C>T (p.Pro67Leu)
c.2642C>T (p.Pro881Leu)
c.962C>T (p.Pro321Leu)
 gnomAD v4
Xg.108620377T>ACA517924193COL4A5c.2628T>A (p.Pro876=)
n.2084T>A
c.2304T>A (p.Pro768=)
c.201T>A (p.Pro67=)
c.2643T>A (p.Pro881=)
c.963T>A (p.Pro321=)
Xg.108620377T>CCA517924194COL4A5c.2628T>C (p.Pro876=)
n.2084T>C
c.2304T>C (p.Pro768=)
c.201T>C (p.Pro67=)
c.2643T>C (p.Pro881=)
c.963T>C (p.Pro321=)
 gnomAD v4
Xg.108620377T>GCA517924195COL4A5c.2628T>G (p.Pro876=)
n.2084T>G
c.2304T>G (p.Pro768=)
c.201T>G (p.Pro67=)
c.2643T>G (p.Pro881=)
c.963T>G (p.Pro321=)
Xg.108620378C>ACA413851557COL4A5c.2629C>A (p.Pro877Thr)
n.2085C>A
c.2305C>A (p.Pro769Thr)
c.202C>A (p.Pro68Thr)
c.2644C>A (p.Pro882Thr)
c.964C>A (p.Pro322Thr)
Xg.108620378C>GCA413851559COL4A5c.2629C>G (p.Pro877Ala)
n.2085C>G
c.2305C>G (p.Pro769Ala)
c.202C>G (p.Pro68Ala)
c.2644C>G (p.Pro882Ala)
c.964C>G (p.Pro322Ala)
Xg.108620378C>TCA413851561COL4A5c.2629C>T (p.Pro877Ser)
n.2085C>T
c.2305C>T (p.Pro769Ser)
c.202C>T (p.Pro68Ser)
c.2644C>T (p.Pro882Ser)
c.964C>T (p.Pro322Ser)
Xg.108620378_108620379delCA2579676516COL4A5c.2629_2630del (p.Pro877ArgfsTer20)
n.2085_2086del
c.2305_2306del (p.Pro769ArgfsTer20)
c.202_203del (p.Pro68ArgfsTer20)
c.2644_2645del (p.Pro882ArgfsTer20)
c.964_965del (p.Pro322ArgfsTer20)
Xg.108620379delCA2572030320COL4A5c.2630del (p.Pro877GlnfsTer24)
n.2086del
c.2306del (p.Pro769GlnfsTer24)
c.203del (p.Pro68GlnfsTer24)
c.2645del (p.Pro882GlnfsTer24)
c.965del (p.Pro322GlnfsTer24)
 gnomAD v4
Xg.108620379C>ACA413851563COL4A5c.2630C>A (p.Pro877Gln)
n.2086C>A
c.2306C>A (p.Pro769Gln)
c.203C>A (p.Pro68Gln)
c.2645C>A (p.Pro882Gln)
c.965C>A (p.Pro322Gln)
Xg.108620379C>GCA413851566COL4A5c.2630C>G (p.Pro877Arg)
n.2086C>G
c.2306C>G (p.Pro769Arg)
c.203C>G (p.Pro68Arg)
c.2645C>G (p.Pro882Arg)
c.965C>G (p.Pro322Arg)
Xg.108620379C>TCA413851567COL4A5c.2630C>T (p.Pro877Leu)
n.2086C>T
c.2306C>T (p.Pro769Leu)
c.203C>T (p.Pro68Leu)
c.2645C>T (p.Pro882Leu)
c.965C>T (p.Pro322Leu)
Xg.108620380A=CA2450695981COL4A5c.2631A= (p.Pro877=)
n.2087A=
c.2307A= (p.Pro769=)
c.204A= (p.Pro68=)
c.2646A= (p.Pro882=)
c.966A= (p.Pro322=)
Xg.108620380A>CCA517924199COL4A5c.2631A>C (p.Pro877=)
n.2087A>C
c.2307A>C (p.Pro769=)
c.204A>C (p.Pro68=)
c.2646A>C (p.Pro882=)
c.966A>C (p.Pro322=)
Xg.108620380A>GCA10488953COL4A5c.2631A>G (p.Pro877=)
n.2087A>G
c.2307A>G (p.Pro769=)
c.204A>G (p.Pro68=)
c.2646A>G (p.Pro882=)
c.966A>G (p.Pro322=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108620380A>TCA517924201COL4A5c.2631A>T (p.Pro877=)
n.2087A>T
c.2307A>T (p.Pro769=)
c.204A>T (p.Pro68=)
c.2646A>T (p.Pro882=)
c.966A>T (p.Pro322=)

Number of alleles fetched