Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227055933delCA647524483COL4A4c.2716+16del (n.2716+16del)
c.2161+16del (n.2161+16del)
c.2608+16del (n.2608+16del)
c.1042+16del (n.1042+16del)
n.3026+16del
n.3042+16del
 gnomAD v4 COSMIC
2g.227055932A=CA1332746311COL4A4c.2716+13T= (n.2716+13T=)
c.2161+13T= (n.2161+13T=)
c.2608+13T= (n.2608+13T=)
c.1042+13T= (n.1042+13T=)
n.3026+13T=
n.3042+13T=
2g.227055932A>GCA765669473COL4A4c.2716+13T>C (n.2716+13T>C)
c.2161+13T>C (n.2161+13T>C)
c.2608+13T>C (n.2608+13T>C)
c.1042+13T>C (n.1042+13T>C)
n.3026+13T>C
n.3042+13T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227055933A=CA1332746312COL4A4c.2716+12T= (n.2716+12T=)
c.2161+12T= (n.2161+12T=)
c.2608+12T= (n.2608+12T=)
c.1042+12T= (n.1042+12T=)
n.3026+12T=
n.3042+12T=
2g.227055933A>TCA66585009COL4A4c.2716+12T>A (n.2716+12T>A)
c.2161+12T>A (n.2161+12T>A)
c.2608+12T>A (n.2608+12T>A)
c.1042+12T>A (n.1042+12T>A)
n.3026+12T>A
n.3042+12T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227055934G>TCA2663408039COL4A4c.2716+11C>A (n.2716+11C>A)
c.2161+11C>A (n.2161+11C>A)
c.2608+11C>A (n.2608+11C>A)
c.1042+11C>A (n.1042+11C>A)
n.3026+11C>A
n.3042+11C>A
 ClinVar gnomAD v4
2g.227055935C=CA1332746313COL4A4c.2716+10G= (n.2716+10G=)
c.2161+10G= (n.2161+10G=)
c.2608+10G= (n.2608+10G=)
c.1042+10G= (n.1042+10G=)
n.3026+10G=
n.3042+10G=
2g.227055935C>TCA765669475COL4A4c.2716+10G>A (n.2716+10G>A)
c.2161+10G>A (n.2161+10G>A)
c.2608+10G>A (n.2608+10G>A)
c.1042+10G>A (n.1042+10G>A)
n.3026+10G>A
n.3042+10G>A
 ClinVar dbSNP gnomAD v4
2g.227055936A=CA1332746314COL4A4c.2716+9T= (n.2716+9T=)
c.2161+9T= (n.2161+9T=)
c.2608+9T= (n.2608+9T=)
c.1042+9T= (n.1042+9T=)
n.3026+9T=
n.3042+9T=
2g.227055936A>CCA539875195COL4A4c.2716+9T>G (n.2716+9T>G)
c.2161+9T>G (n.2161+9T>G)
c.2608+9T>G (n.2608+9T>G)
c.1042+9T>G (n.1042+9T>G)
n.3026+9T>G
n.3042+9T>G
 dbSNP gnomAD v2 gnomAD v4
2g.227055937C>TCA2663408040COL4A4c.2716+8G>A (n.2716+8G>A)
c.2161+8G>A (n.2161+8G>A)
c.2608+8G>A (n.2608+8G>A)
c.1042+8G>A (n.1042+8G>A)
n.3026+8G>A
n.3042+8G>A
 gnomAD v4
2g.227055938T>ACA2663408041COL4A4c.2716+7A>T (n.2716+7A>T)
c.2161+7A>T (n.2161+7A>T)
c.2608+7A>T (n.2608+7A>T)
c.1042+7A>T (n.1042+7A>T)
n.3026+7A>T
n.3042+7A>T
 gnomAD v4
2g.227055938T>CCA1043062238COL4A4c.2716+7A>G (n.2716+7A>G)
c.2161+7A>G (n.2161+7A>G)
c.2608+7A>G (n.2608+7A>G)
c.1042+7A>G (n.1042+7A>G)
n.3026+7A>G
n.3042+7A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227055938T=CA1332746315COL4A4c.2716+7A= (n.2716+7A=)
c.2161+7A= (n.2161+7A=)
c.2608+7A= (n.2608+7A=)
c.1042+7A= (n.1042+7A=)
n.3026+7A=
n.3042+7A=
2g.227055939A=CA1332746316COL4A4c.2716+6T= (n.2716+6T=)
c.2161+6T= (n.2161+6T=)
c.2608+6T= (n.2608+6T=)
c.1042+6T= (n.1042+6T=)
n.3026+6T=
n.3042+6T=
2g.227055939A>GCA539875197COL4A4c.2716+6T>C (n.2716+6T>C)
c.2161+6T>C (n.2161+6T>C)
c.2608+6T>C (n.2608+6T>C)
c.1042+6T>C (n.1042+6T>C)
n.3026+6T>C
n.3042+6T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227055940C=CA1332746317COL4A4c.2716+5G= (n.2716+5G=)
c.2161+5G= (n.2161+5G=)
c.2608+5G= (n.2608+5G=)
c.1042+5G= (n.1042+5G=)
n.3026+5G=
n.3042+5G=
2g.227055940C>TCA539875199COL4A4c.2716+5G>A (n.2716+5G>A)
c.2161+5G>A (n.2161+5G>A)
c.2608+5G>A (n.2608+5G>A)
c.1042+5G>A (n.1042+5G>A)
n.3026+5G>A
n.3042+5G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227055941C>ACA2577263537COL4A4c.2716+4G>T (n.2716+4G>T)
c.2161+4G>T (n.2161+4G>T)
c.2608+4G>T (n.2608+4G>T)
c.1042+4G>T (n.1042+4G>T)
n.3026+4G>T
n.3042+4G>T
 gnomAD v4
2g.227055941C>GCA2663408042COL4A4c.2716+4G>C (n.2716+4G>C)
c.2161+4G>C (n.2161+4G>C)
c.2608+4G>C (n.2608+4G>C)
c.1042+4G>C (n.1042+4G>C)
n.3026+4G>C
n.3042+4G>C
 gnomAD v4
2g.227055942T>CCA2663408043COL4A4c.2716+3A>G (n.2716+3A>G)
c.2161+3A>G (n.2161+3A>G)
c.2608+3A>G (n.2608+3A>G)
c.1042+3A>G (n.1042+3A>G)
n.3026+3A>G
n.3042+3A>G
 gnomAD v4
2g.227055943A>CCA350840734COL4A4c.2716+2T>G (n.2716+2T>G)
c.2161+2T>G (n.2161+2T>G)
c.2608+2T>G (n.2608+2T>G)
c.1042+2T>G (n.1042+2T>G)
n.3026+2T>G
n.3042+2T>G
2g.227055943A>GCA350840738COL4A4c.2716+2T>C (n.2716+2T>C)
c.2161+2T>C (n.2161+2T>C)
c.2608+2T>C (n.2608+2T>C)
c.1042+2T>C (n.1042+2T>C)
n.3026+2T>C
n.3042+2T>C
2g.227055943A>TCA350840736COL4A4c.2716+2T>A (n.2716+2T>A)
c.2161+2T>A (n.2161+2T>A)
c.2608+2T>A (n.2608+2T>A)
c.1042+2T>A (n.1042+2T>A)
n.3026+2T>A
n.3042+2T>A
 ClinVar
2g.227055944C>ACA350840740COL4A4c.2716+1G>T (n.2716+1G>T)
c.2161+1G>T (n.2161+1G>T)
c.2608+1G>T (n.2608+1G>T)
c.1042+1G>T (n.1042+1G>T)
n.3026+1G>T
n.3042+1G>T
2g.227055944C>GCA350840742COL4A4c.2716+1G>C (n.2716+1G>C)
c.2161+1G>C (n.2161+1G>C)
c.2608+1G>C (n.2608+1G>C)
c.1042+1G>C (n.1042+1G>C)
n.3026+1G>C
n.3042+1G>C
2g.227055944C>TCA350840744COL4A4c.2716+1G>A (n.2716+1G>A)
c.2161+1G>A (n.2161+1G>A)
c.2608+1G>A (n.2608+1G>A)
c.1042+1G>A (n.1042+1G>A)
n.3026+1G>A
n.3042+1G>A
 gnomAD v4 COSMIC
2g.227055944_227055946dupCA2663408044COL4A4c.2715_2716+1dup
c.2160_2161+1dup
c.2607_2608+1dup
c.1041_1042+1dup
n.3025_3026+1dup
n.3041_3042+1dup
 gnomAD v4
2g.227055945C>ACA350840746COL4A4c.2716G>T (p.Gly906Ter)
c.2161G>T (p.Gly721Ter)
c.2608G>T (p.Gly870Ter)
c.1042G>T (p.Gly348Ter)
n.3026G>T
n.3042G>T
2g.227055945C=CA1332746318COL4A4c.2716G= (p.Gly906=)
c.2161G= (p.Gly721=)
c.2608G= (p.Gly870=)
c.1042G= (p.Gly348=)
n.3026G=
n.3042G=
2g.227055945C>GCA350840747COL4A4c.2716G>C (p.Gly906Arg)
c.2161G>C (p.Gly721Arg)
c.2608G>C (p.Gly870Arg)
c.1042G>C (p.Gly348Arg)
n.3026G>C
n.3042G>C
2g.227055945C>TCA350840749COL4A4c.2716G>A (p.Gly906Arg)
c.2161G>A (p.Gly721Arg)
c.2608G>A (p.Gly870Arg)
c.1042G>A (p.Gly348Arg)
n.3026G>A
n.3042G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.227055946C>ACA350840750COL4A4c.2715G>T (p.Lys905Asn)
c.2160G>T (p.Lys720Asn)
c.2607G>T (p.Lys869Asn)
c.1041G>T (p.Lys347Asn)
n.3025G>T
n.3041G>T
2g.227055946C>GCA350840752COL4A4c.2715G>C (p.Lys905Asn)
c.2160G>C (p.Lys720Asn)
c.2607G>C (p.Lys869Asn)
c.1041G>C (p.Lys347Asn)
n.3025G>C
n.3041G>C
2g.227055946C>TCA431499345COL4A4c.2715G>A (p.Lys905=)
c.2160G>A (p.Lys720=)
c.2607G>A (p.Lys869=)
c.1041G>A (p.Lys347=)
n.3025G>A
n.3041G>A
2g.227055946_227055947dupCA2586971462COL4A4c.2714_2715dup (p.Gly906ArgfsTer?)
c.2159_2160dup (p.Gly721ArgfsTer?)
c.2606_2607dup (p.Gly870ArgfsTer?)
c.1040_1041dup (p.Gly348ArgfsTer?)
n.3024_3025dup
n.3040_3041dup
2g.227055947T>ACA350840753COL4A4c.2714A>T (p.Lys905Met)
c.2159A>T (p.Lys720Met)
c.2606A>T (p.Lys869Met)
c.1040A>T (p.Lys347Met)
n.3024A>T
n.3040A>T
2g.227055947T>CCA350840755COL4A4c.2714A>G (p.Lys905Arg)
c.2159A>G (p.Lys720Arg)
c.2606A>G (p.Lys869Arg)
c.1040A>G (p.Lys347Arg)
n.3024A>G
n.3040A>G
2g.227055947T>GCA350840756COL4A4c.2714A>C (p.Lys905Thr)
c.2159A>C (p.Lys720Thr)
c.2606A>C (p.Lys869Thr)
c.1040A>C (p.Lys347Thr)
n.3024A>C
n.3040A>C
2g.227055948T>ACA350840758COL4A4c.2713A>T (p.Lys905Ter)
c.2158A>T (p.Lys720Ter)
c.2605A>T (p.Lys869Ter)
c.1039A>T (p.Lys347Ter)
n.3023A>T
n.3039A>T
2g.227055948T>CCA350840761COL4A4c.2713A>G (p.Lys905Glu)
c.2158A>G (p.Lys720Glu)
c.2605A>G (p.Lys869Glu)
c.1039A>G (p.Lys347Glu)
n.3023A>G
n.3039A>G
2g.227055948T>GCA350840760COL4A4c.2713A>C (p.Lys905Gln)
c.2158A>C (p.Lys720Gln)
c.2605A>C (p.Lys869Gln)
c.1039A>C (p.Lys347Gln)
n.3023A>C
n.3039A>C
2g.227055949T>ACA431499346COL4A4c.2712A>T (p.Pro904=)
c.2157A>T (p.Pro719=)
c.2604A>T (p.Pro868=)
c.1038A>T (p.Pro346=)
n.3022A>T
n.3038A>T
2g.227055949T>CCA431499347COL4A4c.2712A>G (p.Pro904=)
c.2157A>G (p.Pro719=)
c.2604A>G (p.Pro868=)
c.1038A>G (p.Pro346=)
n.3022A>G
n.3038A>G
 ClinVar dbSNP
2g.227055949T>GCA431499348COL4A4c.2712A>C (p.Pro904=)
c.2157A>C (p.Pro719=)
c.2604A>C (p.Pro868=)
c.1038A>C (p.Pro346=)
n.3022A>C
n.3038A>C
 dbSNP
2g.227055949T=CA1332746319COL4A4c.2712A= (p.Pro904=)
c.2157A= (p.Pro719=)
c.2604A= (p.Pro868=)
c.1038A= (p.Pro346=)
n.3022A=
n.3038A=
2g.227055950G>ACA350840763COL4A4c.2711C>T (p.Pro904Leu)
c.2156C>T (p.Pro719Leu)
c.2603C>T (p.Pro868Leu)
c.1037C>T (p.Pro346Leu)
n.3021C>T
n.3037C>T
 dbSNP gnomAD v3 gnomAD v4
2g.227055950G>CCA350840765COL4A4c.2711C>G (p.Pro904Arg)
c.2156C>G (p.Pro719Arg)
c.2603C>G (p.Pro868Arg)
c.1037C>G (p.Pro346Arg)
n.3021C>G
n.3037C>G
2g.227055950G=CA1332746320COL4A4c.2711C= (p.Pro904=)
c.2156C= (p.Pro719=)
c.2603C= (p.Pro868=)
c.1037C= (p.Pro346=)
n.3021C=
n.3037C=
2g.227055950G>TCA350840766COL4A4c.2711C>A (p.Pro904Gln)
c.2156C>A (p.Pro719Gln)
c.2603C>A (p.Pro868Gln)
c.1037C>A (p.Pro346Gln)
n.3021C>A
n.3037C>A
2g.227055951G>ACA350840768COL4A4c.2710C>T (p.Pro904Ser)
c.2155C>T (p.Pro719Ser)
c.2602C>T (p.Pro868Ser)
c.1036C>T (p.Pro346Ser)
n.3020C>T
n.3036C>T
2g.227055951G>CCA2144742COL4A4c.2710C>G (p.Pro904Ala)
c.2155C>G (p.Pro719Ala)
c.2602C>G (p.Pro868Ala)
c.1036C>G (p.Pro346Ala)
n.3020C>G
n.3036C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227055951G=CA1332746321COL4A4c.2710C= (p.Pro904=)
c.2155C= (p.Pro719=)
c.2602C= (p.Pro868=)
c.1036C= (p.Pro346=)
n.3020C=
n.3036C=
2g.227055951G>TCA350840770COL4A4c.2710C>A (p.Pro904Thr)
c.2155C>A (p.Pro719Thr)
c.2602C>A (p.Pro868Thr)
c.1036C>A (p.Pro346Thr)
n.3020C>A
n.3036C>A
2g.227055952A>CCA431499349COL4A4c.2709T>G (p.Gly903=)
c.2154T>G (p.Gly718=)
c.2601T>G (p.Gly867=)
c.1035T>G (p.Gly345=)
n.3019T>G
n.3035T>G
2g.227055952A>GCA431499350COL4A4c.2709T>C (p.Gly903=)
c.2154T>C (p.Gly718=)
c.2601T>C (p.Gly867=)
c.1035T>C (p.Gly345=)
n.3019T>C
n.3035T>C
2g.227055952A>TCA431499351COL4A4c.2709T>A (p.Gly903=)
c.2154T>A (p.Gly718=)
c.2601T>A (p.Gly867=)
c.1035T>A (p.Gly345=)
n.3019T>A
n.3035T>A
 ClinVar dbSNP gnomAD v4
2g.227055953C>ACA350840775COL4A4c.2708G>T (p.Gly903Val)
c.2153G>T (p.Gly718Val)
c.2600G>T (p.Gly867Val)
c.1034G>T (p.Gly345Val)
n.3018G>T
n.3034G>T
 gnomAD v4
2g.227055953C>GCA350840773COL4A4c.2708G>C (p.Gly903Ala)
c.2153G>C (p.Gly718Ala)
c.2600G>C (p.Gly867Ala)
c.1034G>C (p.Gly345Ala)
n.3018G>C
n.3034G>C
2g.227055953C>TCA350840772COL4A4c.2708G>A (p.Gly903Asp)
c.2153G>A (p.Gly718Asp)
c.2600G>A (p.Gly867Asp)
c.1034G>A (p.Gly345Asp)
n.3018G>A
n.3034G>A
2g.227055954C>ACA350840777COL4A4c.2707G>T (p.Gly903Cys)
c.2152G>T (p.Gly718Cys)
c.2599G>T (p.Gly867Cys)
c.1033G>T (p.Gly345Cys)
n.3017G>T
n.3033G>T
2g.227055954C>GCA350840778COL4A4c.2707G>C (p.Gly903Arg)
c.2152G>C (p.Gly718Arg)
c.2599G>C (p.Gly867Arg)
c.1033G>C (p.Gly345Arg)
n.3017G>C
n.3033G>C
2g.227055954C>TCA350840779COL4A4c.2707G>A (p.Gly903Ser)
c.2152G>A (p.Gly718Ser)
c.2599G>A (p.Gly867Ser)
c.1033G>A (p.Gly345Ser)
n.3017G>A
n.3033G>A
2g.227055955T>ACA431499352COL4A4c.2706A>T (p.Pro902=)
c.2151A>T (p.Pro717=)
c.2598A>T (p.Pro866=)
c.1032A>T (p.Pro344=)
n.3016A>T
n.3032A>T
2g.227055955T>CCA431499353COL4A4c.2706A>G (p.Pro902=)
c.2151A>G (p.Pro717=)
c.2598A>G (p.Pro866=)
c.1032A>G (p.Pro344=)
n.3016A>G
n.3032A>G
2g.227055955T>GCA431499354COL4A4c.2706A>C (p.Pro902=)
c.2151A>C (p.Pro717=)
c.2598A>C (p.Pro866=)
c.1032A>C (p.Pro344=)
n.3016A>C
n.3032A>C
2g.227055956G>ACA350840782COL4A4c.2705C>T (p.Pro902Leu)
c.2150C>T (p.Pro717Leu)
c.2597C>T (p.Pro866Leu)
c.1031C>T (p.Pro344Leu)
n.3015C>T
n.3031C>T
2g.227055956G>CCA350840783COL4A4c.2705C>G (p.Pro902Arg)
c.2150C>G (p.Pro717Arg)
c.2597C>G (p.Pro866Arg)
c.1031C>G (p.Pro344Arg)
n.3015C>G
n.3031C>G
2g.227055956G>TCA350840784COL4A4c.2705C>A (p.Pro902Gln)
c.2150C>A (p.Pro717Gln)
c.2597C>A (p.Pro866Gln)
c.1031C>A (p.Pro344Gln)
n.3015C>A
n.3031C>A
2g.227055957G>ACA350840785COL4A4c.2704C>T (p.Pro902Ser)
c.2149C>T (p.Pro717Ser)
c.2596C>T (p.Pro866Ser)
c.1030C>T (p.Pro344Ser)
n.3014C>T
n.3030C>T
2g.227055957G>CCA350840787COL4A4c.2704C>G (p.Pro902Ala)
c.2149C>G (p.Pro717Ala)
c.2596C>G (p.Pro866Ala)
c.1030C>G (p.Pro344Ala)
n.3014C>G
n.3030C>G
2g.227055957G>TCA350840786COL4A4c.2704C>A (p.Pro902Thr)
c.2149C>A (p.Pro717Thr)
c.2596C>A (p.Pro866Thr)
c.1030C>A (p.Pro344Thr)
n.3014C>A
n.3030C>A
2g.227055958A>CCA431499355COL4A4c.2703T>G (p.Pro901=)
c.2148T>G (p.Pro716=)
c.2595T>G (p.Pro865=)
c.1029T>G (p.Pro343=)
n.3013T>G
n.3029T>G
2g.227055958A>GCA431499356COL4A4c.2703T>C (p.Pro901=)
c.2148T>C (p.Pro716=)
c.2595T>C (p.Pro865=)
c.1029T>C (p.Pro343=)
n.3013T>C
n.3029T>C
2g.227055958A>TCA431499357COL4A4c.2703T>A (p.Pro901=)
c.2148T>A (p.Pro716=)
c.2595T>A (p.Pro865=)
c.1029T>A (p.Pro343=)
n.3013T>A
n.3029T>A
2g.227055959G>ACA350840788COL4A4c.2702C>T (p.Pro901Leu)
c.2147C>T (p.Pro716Leu)
c.2594C>T (p.Pro865Leu)
c.1028C>T (p.Pro343Leu)
n.3012C>T
n.3028C>T
2g.227055959G>CCA350840789COL4A4c.2702C>G (p.Pro901Arg)
c.2147C>G (p.Pro716Arg)
c.2594C>G (p.Pro865Arg)
c.1028C>G (p.Pro343Arg)
n.3012C>G
n.3028C>G
2g.227055959G>TCA350840791COL4A4c.2702C>A (p.Pro901His)
c.2147C>A (p.Pro716His)
c.2594C>A (p.Pro865His)
c.1028C>A (p.Pro343His)
n.3012C>A
n.3028C>A
2g.227055960G>ACA66585022COL4A4c.2701C>T (p.Pro901Ser)
c.2146C>T (p.Pro716Ser)
c.2593C>T (p.Pro865Ser)
c.1027C>T (p.Pro343Ser)
n.3011C>T
n.3027C>T
 dbSNP gnomAD v4
2g.227055960G>CCA66585029COL4A4c.2701C>G (p.Pro901Ala)
c.2146C>G (p.Pro716Ala)
c.2593C>G (p.Pro865Ala)
c.1027C>G (p.Pro343Ala)
n.3011C>G
n.3027C>G
 dbSNP gnomAD v3 gnomAD v4
2g.227055960G=CA1332746322COL4A4c.2701C= (p.Pro901=)
c.2146C= (p.Pro716=)
c.2593C= (p.Pro865=)
c.1027C= (p.Pro343=)
n.3011C=
n.3027C=
2g.227055960G>TCA350840793COL4A4c.2701C>A (p.Pro901Thr)
c.2146C>A (p.Pro716Thr)
c.2593C>A (p.Pro865Thr)
c.1027C>A (p.Pro343Thr)
n.3011C>A
n.3027C>A
2g.227055961A>CCA431499358COL4A4c.2700T>G (p.Gly900=)
c.2145T>G (p.Gly715=)
c.2592T>G (p.Gly864=)
c.1026T>G (p.Gly342=)
n.3010T>G
n.3026T>G
2g.227055961A>GCA431499359COL4A4c.2700T>C (p.Gly900=)
c.2145T>C (p.Gly715=)
c.2592T>C (p.Gly864=)
c.1026T>C (p.Gly342=)
n.3010T>C
n.3026T>C
 gnomAD v4
2g.227055961A>TCA431499360COL4A4c.2700T>A (p.Gly900=)
c.2145T>A (p.Gly715=)
c.2592T>A (p.Gly864=)
c.1026T>A (p.Gly342=)
n.3010T>A
n.3026T>A
2g.227055962C>ACA350840796COL4A4c.2699G>T (p.Gly900Val)
c.2144G>T (p.Gly715Val)
c.2591G>T (p.Gly864Val)
c.1025G>T (p.Gly342Val)
n.3009G>T
n.3025G>T
2g.227055962C=CA1332746323COL4A4c.2699G= (p.Gly900=)
c.2144G= (p.Gly715=)
c.2591G= (p.Gly864=)
c.1025G= (p.Gly342=)
n.3009G=
n.3025G=
2g.227055962C>GCA350840797COL4A4c.2699G>C (p.Gly900Ala)
c.2144G>C (p.Gly715Ala)
c.2591G>C (p.Gly864Ala)
c.1025G>C (p.Gly342Ala)
n.3009G>C
n.3025G>C
 dbSNP gnomAD v3 gnomAD v4
2g.227055962C>TCA350840798COL4A4c.2699G>A (p.Gly900Asp)
c.2144G>A (p.Gly715Asp)
c.2591G>A (p.Gly864Asp)
c.1025G>A (p.Gly342Asp)
n.3009G>A
n.3025G>A
2g.227055963delCA2580065876COL4A4c.2699del (p.Gly900ValfsTer?)
c.2144del (p.Gly715ValfsTer?)
c.2591del (p.Gly864ValfsTer?)
c.1025del (p.Gly342ValfsTer?)
n.3009del
n.3025del
 ClinVar
2g.227055963C>ACA350840800COL4A4c.2698G>T (p.Gly900Cys)
c.2143G>T (p.Gly715Cys)
c.2590G>T (p.Gly864Cys)
c.1024G>T (p.Gly342Cys)
n.3008G>T
n.3024G>T
 ClinVar gnomAD v4
2g.227055963C>GCA350840801COL4A4c.2698G>C (p.Gly900Arg)
c.2143G>C (p.Gly715Arg)
c.2590G>C (p.Gly864Arg)
c.1024G>C (p.Gly342Arg)
n.3008G>C
n.3024G>C
2g.227055963C>TCA350840803COL4A4c.2698G>A (p.Gly900Ser)
c.2143G>A (p.Gly715Ser)
c.2590G>A (p.Gly864Ser)
c.1024G>A (p.Gly342Ser)
n.3008G>A
n.3024G>A
2g.227055964A>CCA431499361COL4A4c.2697T>G (p.Pro899=)
c.2142T>G (p.Pro714=)
c.2589T>G (p.Pro863=)
c.1023T>G (p.Pro341=)
n.3007T>G
n.3023T>G
2g.227055964A>GCA431499362COL4A4c.2697T>C (p.Pro899=)
c.2142T>C (p.Pro714=)
c.2589T>C (p.Pro863=)
c.1023T>C (p.Pro341=)
n.3007T>C
n.3023T>C
2g.227055964A>TCA431499363COL4A4c.2697T>A (p.Pro899=)
c.2142T>A (p.Pro714=)
c.2589T>A (p.Pro863=)
c.1023T>A (p.Pro341=)
n.3007T>A
n.3023T>A
 gnomAD v4
2g.227055965G>ACA350840807COL4A4c.2696C>T (p.Pro899Leu)
c.2141C>T (p.Pro714Leu)
c.2588C>T (p.Pro863Leu)
c.1022C>T (p.Pro341Leu)
n.3006C>T
n.3022C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227055965G>CCA66585030COL4A4c.2696C>G (p.Pro899Arg)
c.2141C>G (p.Pro714Arg)
c.2588C>G (p.Pro863Arg)
c.1022C>G (p.Pro341Arg)
n.3006C>G
n.3022C>G
 dbSNP
2g.227055965G=CA1332746324COL4A4c.2696C= (p.Pro899=)
c.2141C= (p.Pro714=)
c.2588C= (p.Pro863=)
c.1022C= (p.Pro341=)
n.3006C=
n.3022C=
2g.227055965G>TCA350840805COL4A4c.2696C>A (p.Pro899His)
c.2141C>A (p.Pro714His)
c.2588C>A (p.Pro863His)
c.1022C>A (p.Pro341His)
n.3006C>A
n.3022C>A
2g.227055966G>ACA66585031COL4A4c.2695C>T (p.Pro899Ser)
c.2140C>T (p.Pro714Ser)
c.2587C>T (p.Pro863Ser)
c.1021C>T (p.Pro341Ser)
n.3005C>T
n.3021C>T
 dbSNP
2g.227055966G>CCA350840809COL4A4c.2695C>G (p.Pro899Ala)
c.2140C>G (p.Pro714Ala)
c.2587C>G (p.Pro863Ala)
c.1021C>G (p.Pro341Ala)
n.3005C>G
n.3021C>G
2g.227055966G=CA1332746325COL4A4c.2695C= (p.Pro899=)
c.2140C= (p.Pro714=)
c.2587C= (p.Pro863=)
c.1021C= (p.Pro341=)
n.3005C=
n.3021C=
2g.227055966G>TCA350840811COL4A4c.2695C>A (p.Pro899Thr)
c.2140C>A (p.Pro714Thr)
c.2587C>A (p.Pro863Thr)
c.1021C>A (p.Pro341Thr)
n.3005C>A
n.3021C>A
2g.227055967T>ACA2144743COL4A4c.2694A>T (p.Leu898=)
c.2139A>T (p.Leu713=)
c.2586A>T (p.Leu862=)
c.1020A>T (p.Leu340=)
n.3004A>T
n.3020A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227055967T>CCA431499364COL4A4c.2694A>G (p.Leu898=)
c.2139A>G (p.Leu713=)
c.2586A>G (p.Leu862=)
c.1020A>G (p.Leu340=)
n.3004A>G
n.3020A>G
 gnomAD v4
2g.227055967T>GCA431499365COL4A4c.2694A>C (p.Leu898=)
c.2139A>C (p.Leu713=)
c.2586A>C (p.Leu862=)
c.1020A>C (p.Leu340=)
n.3004A>C
n.3020A>C
2g.227055967T=CA1332746326COL4A4c.2694A= (p.Leu898=)
c.2139A= (p.Leu713=)
c.2586A= (p.Leu862=)
c.1020A= (p.Leu340=)
n.3004A=
n.3020A=
2g.227055968A>CCA350840816COL4A4c.2693T>G (p.Leu898Arg)
c.2138T>G (p.Leu713Arg)
c.2585T>G (p.Leu862Arg)
c.1019T>G (p.Leu340Arg)
n.3003T>G
n.3019T>G
2g.227055968A>GCA350840818COL4A4c.2693T>C (p.Leu898Pro)
c.2138T>C (p.Leu713Pro)
c.2585T>C (p.Leu862Pro)
c.1019T>C (p.Leu340Pro)
n.3003T>C
n.3019T>C
2g.227055968A>TCA350840820COL4A4c.2693T>A (p.Leu898Gln)
c.2138T>A (p.Leu713Gln)
c.2585T>A (p.Leu862Gln)
c.1019T>A (p.Leu340Gln)
n.3003T>A
n.3019T>A
2g.227055969G>ACA431499366COL4A4c.2692C>T (p.Leu898=)
c.2137C>T (p.Leu713=)
c.2584C>T (p.Leu862=)
c.1018C>T (p.Leu340=)
n.3002C>T
n.3018C>T
 dbSNP
2g.227055969G>CCA350840822COL4A4c.2692C>G (p.Leu898Val)
c.2137C>G (p.Leu713Val)
c.2584C>G (p.Leu862Val)
c.1018C>G (p.Leu340Val)
n.3002C>G
n.3018C>G
2g.227055969G=CA1332746327COL4A4c.2692C= (p.Leu898=)
c.2137C= (p.Leu713=)
c.2584C= (p.Leu862=)
c.1018C= (p.Leu340=)
n.3002C=
n.3018C=
2g.227055969G>TCA350840823COL4A4c.2692C>A (p.Leu898Ile)
c.2137C>A (p.Leu713Ile)
c.2584C>A (p.Leu862Ile)
c.1018C>A (p.Leu340Ile)
n.3002C>A
n.3018C>A
 COSMIC
2g.227055970C>ACA431499367COL4A4c.2691G>T (p.Gly897=)
c.2136G>T (p.Gly712=)
c.2583G>T (p.Gly861=)
c.1017G>T (p.Gly339=)
n.3001G>T
n.3017G>T
2g.227055970C>GCA431499368COL4A4c.2691G>C (p.Gly897=)
c.2136G>C (p.Gly712=)
c.2583G>C (p.Gly861=)
c.1017G>C (p.Gly339=)
n.3001G>C
n.3017G>C
2g.227055970C>TCA431499369COL4A4c.2691G>A (p.Gly897=)
c.2136G>A (p.Gly712=)
c.2583G>A (p.Gly861=)
c.1017G>A (p.Gly339=)
n.3001G>A
n.3017G>A
 ClinVar
2g.227055971C>ACA350840825COL4A4c.2690G>T (p.Gly897Val)
c.2135G>T (p.Gly712Val)
c.2582G>T (p.Gly861Val)
c.1016G>T (p.Gly339Val)
n.3000G>T
n.3016G>T
2g.227055971C=CA1332746328COL4A4c.2690G= (p.Gly897=)
c.2135G= (p.Gly712=)
c.2582G= (p.Gly861=)
c.1016G= (p.Gly339=)
n.3000G=
n.3016G=
2g.227055971C>GCA350840827COL4A4c.2690G>C (p.Gly897Ala)
c.2135G>C (p.Gly712Ala)
c.2582G>C (p.Gly861Ala)
c.1016G>C (p.Gly339Ala)
n.3000G>C
n.3016G>C
2g.227055971C>TCA127186COL4A4c.2690G>A (p.Gly897Glu)
c.2135G>A (p.Gly712Glu)
c.2582G>A (p.Gly861Glu)
c.1016G>A (p.Gly339Glu)
n.3000G>A
n.3016G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227055972C>ACA350840832COL4A4c.2689G>T (p.Gly897Trp)
c.2134G>T (p.Gly712Trp)
c.2581G>T (p.Gly861Trp)
c.1015G>T (p.Gly339Trp)
n.2999G>T
n.3015G>T
2g.227055972C>GCA350840830COL4A4c.2689G>C (p.Gly897Arg)
c.2134G>C (p.Gly712Arg)
c.2581G>C (p.Gly861Arg)
c.1015G>C (p.Gly339Arg)
n.2999G>C
n.3015G>C
2g.227055972C>TCA350840829COL4A4c.2689G>A (p.Gly897Arg)
c.2134G>A (p.Gly712Arg)
c.2581G>A (p.Gly861Arg)
c.1015G>A (p.Gly339Arg)
n.2999G>A
n.3015G>A
2g.227055973A>CCA350840833COL4A4c.2688T>G (p.Asp896Glu)
c.2133T>G (p.Asp711Glu)
c.2580T>G (p.Asp860Glu)
c.1014T>G (p.Asp338Glu)
n.2998T>G
n.3014T>G
2g.227055973A>GCA431499370COL4A4c.2688T>C (p.Asp896=)
c.2133T>C (p.Asp711=)
c.2580T>C (p.Asp860=)
c.1014T>C (p.Asp338=)
n.2998T>C
n.3014T>C
2g.227055973A>TCA350840834COL4A4c.2688T>A (p.Asp896Glu)
c.2133T>A (p.Asp711Glu)
c.2580T>A (p.Asp860Glu)
c.1014T>A (p.Asp338Glu)
n.2998T>A
n.3014T>A
2g.227055974_227055984delCA2586971463COL4A4c.2678_2688del (p.Phe893TrpfsTer?)
c.2123_2133del (p.Phe708TrpfsTer?)
c.2570_2580del (p.Phe857TrpfsTer?)
c.1004_1014del (p.Phe335TrpfsTer?)
n.2988_2998del
n.3004_3014del
2g.227055974T>ACA350840836COL4A4c.2687A>T (p.Asp896Val)
c.2132A>T (p.Asp711Val)
c.2579A>T (p.Asp860Val)
c.1013A>T (p.Asp338Val)
n.2997A>T
n.3013A>T
2g.227055974T>CCA350840838COL4A4c.2687A>G (p.Asp896Gly)
c.2132A>G (p.Asp711Gly)
c.2579A>G (p.Asp860Gly)
c.1013A>G (p.Asp338Gly)
n.2997A>G
n.3013A>G
2g.227055974T>GCA350840840COL4A4c.2687A>C (p.Asp896Ala)
c.2132A>C (p.Asp711Ala)
c.2579A>C (p.Asp860Ala)
c.1013A>C (p.Asp338Ala)
n.2997A>C
n.3013A>C
2g.227055975C>ACA350840842COL4A4c.2686G>T (p.Asp896Tyr)
c.2131G>T (p.Asp711Tyr)
c.2578G>T (p.Asp860Tyr)
c.1012G>T (p.Asp338Tyr)
n.2996G>T
n.3012G>T
2g.227055975C>GCA350840844COL4A4c.2686G>C (p.Asp896His)
c.2131G>C (p.Asp711His)
c.2578G>C (p.Asp860His)
c.1012G>C (p.Asp338His)
n.2996G>C
n.3012G>C
2g.227055975C>TCA350840845COL4A4c.2686G>A (p.Asp896Asn)
c.2131G>A (p.Asp711Asn)
c.2578G>A (p.Asp860Asn)
c.1012G>A (p.Asp338Asn)
n.2996G>A
n.3012G>A
 gnomAD v4
2g.227055976A>CCA350840847COL4A4c.2685T>G (p.Asp895Glu)
c.2130T>G (p.Asp710Glu)
c.2577T>G (p.Asp859Glu)
c.1011T>G (p.Asp337Glu)
n.2995T>G
n.3011T>G
2g.227055976A>GCA431499371COL4A4c.2685T>C (p.Asp895=)
c.2130T>C (p.Asp710=)
c.2577T>C (p.Asp859=)
c.1011T>C (p.Asp337=)
n.2995T>C
n.3011T>C
 ClinVar
2g.227055976A>TCA350840849COL4A4c.2685T>A (p.Asp895Glu)
c.2130T>A (p.Asp710Glu)
c.2577T>A (p.Asp859Glu)
c.1011T>A (p.Asp337Glu)
n.2995T>A
n.3011T>A
 gnomAD v4 COSMIC
2g.227055977T>ACA350840851COL4A4c.2684A>T (p.Asp895Val)
c.2129A>T (p.Asp710Val)
c.2576A>T (p.Asp859Val)
c.1010A>T (p.Asp337Val)
n.2994A>T
n.3010A>T
2g.227055977T>CCA350840853COL4A4c.2684A>G (p.Asp895Gly)
c.2129A>G (p.Asp710Gly)
c.2576A>G (p.Asp859Gly)
c.1010A>G (p.Asp337Gly)
n.2994A>G
n.3010A>G
2g.227055977T>GCA350840854COL4A4c.2684A>C (p.Asp895Ala)
c.2129A>C (p.Asp710Ala)
c.2576A>C (p.Asp859Ala)
c.1010A>C (p.Asp337Ala)
n.2994A>C
n.3010A>C
2g.227055978C>ACA350840858COL4A4c.2683G>T (p.Asp895Tyr)
c.2128G>T (p.Asp710Tyr)
c.2575G>T (p.Asp859Tyr)
c.1009G>T (p.Asp337Tyr)
n.2993G>T
n.3009G>T
2g.227055978C>GCA350840860COL4A4c.2683G>C (p.Asp895His)
c.2128G>C (p.Asp710His)
c.2575G>C (p.Asp859His)
c.1009G>C (p.Asp337His)
n.2993G>C
n.3009G>C
2g.227055978C>TCA350840856COL4A4c.2683G>A (p.Asp895Asn)
c.2128G>A (p.Asp710Asn)
c.2575G>A (p.Asp859Asn)
c.1009G>A (p.Asp337Asn)
n.2993G>A
n.3009G>A
2g.227055979T>ACA431499372COL4A4c.2682A>T (p.Gly894=)
c.2127A>T (p.Gly709=)
c.2574A>T (p.Gly858=)
c.1008A>T (p.Gly336=)
n.2992A>T
n.3008A>T
2g.227055979T>CCA431499373COL4A4c.2682A>G (p.Gly894=)
c.2127A>G (p.Gly709=)
c.2574A>G (p.Gly858=)
c.1008A>G (p.Gly336=)
n.2992A>G
n.3008A>G
2g.227055979T>GCA431499374COL4A4c.2682A>C (p.Gly894=)
c.2127A>C (p.Gly709=)
c.2574A>C (p.Gly858=)
c.1008A>C (p.Gly336=)
n.2992A>C
n.3008A>C
 ClinVar dbSNP gnomAD v4
2g.227055979T=CA1332746329COL4A4c.2682A= (p.Gly894=)
c.2127A= (p.Gly709=)
c.2574A= (p.Gly858=)
c.1008A= (p.Gly336=)
n.2992A=
n.3008A=
2g.227055980C>ACA350840861COL4A4c.2681G>T (p.Gly894Val)
c.2126G>T (p.Gly709Val)
c.2573G>T (p.Gly858Val)
c.1007G>T (p.Gly336Val)
n.2991G>T
n.3007G>T
2g.227055980C>GCA350840862COL4A4c.2681G>C (p.Gly894Ala)
c.2126G>C (p.Gly709Ala)
c.2573G>C (p.Gly858Ala)
c.1007G>C (p.Gly336Ala)
n.2991G>C
n.3007G>C
2g.227055980C>TCA350840864COL4A4c.2681G>A (p.Gly894Glu)
c.2126G>A (p.Gly709Glu)
c.2573G>A (p.Gly858Glu)
c.1007G>A (p.Gly336Glu)
n.2991G>A
n.3007G>A
 COSMIC
2g.227055981C>ACA350840866COL4A4c.2680G>T (p.Gly894Ter)
c.2125G>T (p.Gly709Ter)
c.2572G>T (p.Gly858Ter)
c.1006G>T (p.Gly336Ter)
n.2990G>T
n.3006G>T
2g.227055981C>GCA350840868COL4A4c.2680G>C (p.Gly894Arg)
c.2125G>C (p.Gly709Arg)
c.2572G>C (p.Gly858Arg)
c.1006G>C (p.Gly336Arg)
n.2990G>C
n.3006G>C
2g.227055981C>TCA350840870COL4A4c.2680G>A (p.Gly894Arg)
c.2125G>A (p.Gly709Arg)
c.2572G>A (p.Gly858Arg)
c.1006G>A (p.Gly336Arg)
n.2990G>A
n.3006G>A
2g.227055981_227055989delinsACA2580065879COL4A4c.2672_2680delinsT (p.Gly891ValfsTer3)
c.2117_2125delinsT (p.Gly706ValfsTer3)
c.2564_2572delinsT (p.Gly855ValfsTer3)
c.998_1006delinsT (p.Gly333ValfsTer3)
n.2982_2990delinsT
n.2998_3006delinsT
 ClinVar
2g.227055982A>CCA350840873COL4A4c.2679T>G (p.Phe893Leu)
c.2124T>G (p.Phe708Leu)
c.2571T>G (p.Phe857Leu)
c.1005T>G (p.Phe335Leu)
n.2989T>G
n.3005T>G
2g.227055982A>GCA431499375COL4A4c.2679T>C (p.Phe893=)
c.2124T>C (p.Phe708=)
c.2571T>C (p.Phe857=)
c.1005T>C (p.Phe335=)
n.2989T>C
n.3005T>C
2g.227055982A>TCA350840871COL4A4c.2679T>A (p.Phe893Leu)
c.2124T>A (p.Phe708Leu)
c.2571T>A (p.Phe857Leu)
c.1005T>A (p.Phe335Leu)
n.2989T>A
n.3005T>A
2g.227055983A>CCA350840875COL4A4c.2678T>G (p.Phe893Cys)
c.2123T>G (p.Phe708Cys)
c.2570T>G (p.Phe857Cys)
c.1004T>G (p.Phe335Cys)
n.2988T>G
n.3004T>G
2g.227055983A>GCA350840876COL4A4c.2678T>C (p.Phe893Ser)
c.2123T>C (p.Phe708Ser)
c.2570T>C (p.Phe857Ser)
c.1004T>C (p.Phe335Ser)
n.2988T>C
n.3004T>C
2g.227055983A>TCA350840878COL4A4c.2678T>A (p.Phe893Tyr)
c.2123T>A (p.Phe708Tyr)
c.2570T>A (p.Phe857Tyr)
c.1004T>A (p.Phe335Tyr)
n.2988T>A
n.3004T>A
2g.227055984A>CCA350840879COL4A4c.2677T>G (p.Phe893Val)
c.2122T>G (p.Phe708Val)
c.2569T>G (p.Phe857Val)
c.1003T>G (p.Phe335Val)
n.2987T>G
n.3003T>G
2g.227055984A>GCA350840881COL4A4c.2677T>C (p.Phe893Leu)
c.2122T>C (p.Phe708Leu)
c.2569T>C (p.Phe857Leu)
c.1003T>C (p.Phe335Leu)
n.2987T>C
n.3003T>C
2g.227055984A>TCA350840882COL4A4c.2677T>A (p.Phe893Ile)
c.2122T>A (p.Phe708Ile)
c.2569T>A (p.Phe857Ile)
c.1003T>A (p.Phe335Ile)
n.2987T>A
n.3003T>A
2g.227055985G>ACA431499376COL4A4c.2676C>T (p.Pro892=)
c.2121C>T (p.Pro707=)
c.2568C>T (p.Pro856=)
c.1002C>T (p.Pro334=)
n.2986C>T
n.3002C>T
2g.227055985G>CCA431499378COL4A4c.2676C>G (p.Pro892=)
c.2121C>G (p.Pro707=)
c.2568C>G (p.Pro856=)
c.1002C>G (p.Pro334=)
n.2986C>G
n.3002C>G
2g.227055985G>TCA431499377COL4A4c.2676C>A (p.Pro892=)
c.2121C>A (p.Pro707=)
c.2568C>A (p.Pro856=)
c.1002C>A (p.Pro334=)
n.2986C>A
n.3002C>A
2g.227055986G>ACA350840885COL4A4c.2675C>T (p.Pro892Leu)
c.2120C>T (p.Pro707Leu)
c.2567C>T (p.Pro856Leu)
c.1001C>T (p.Pro334Leu)
n.2985C>T
n.3001C>T
 COSMIC
2g.227055986G>CCA350840884COL4A4c.2675C>G (p.Pro892Arg)
c.2120C>G (p.Pro707Arg)
c.2567C>G (p.Pro856Arg)
c.1001C>G (p.Pro334Arg)
n.2985C>G
n.3001C>G
2g.227055986G=CA1332746330COL4A4c.2675C= (p.Pro892=)
c.2120C= (p.Pro707=)
c.2567C= (p.Pro856=)
c.1001C= (p.Pro334=)
n.2985C=
n.3001C=
2g.227055986G>TCA2144744COL4A4c.2675C>A (p.Pro892His)
c.2120C>A (p.Pro707His)
c.2567C>A (p.Pro856His)
c.1001C>A (p.Pro334His)
n.2985C>A
n.3001C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227055987G>ACA350840886COL4A4c.2674C>T (p.Pro892Ser)
c.2119C>T (p.Pro707Ser)
c.2566C>T (p.Pro856Ser)
c.1000C>T (p.Pro334Ser)
n.2984C>T
n.3000C>T
 COSMIC
2g.227055987G>CCA350840888COL4A4c.2674C>G (p.Pro892Ala)
c.2119C>G (p.Pro707Ala)
c.2566C>G (p.Pro856Ala)
c.1000C>G (p.Pro334Ala)
n.2984C>G
n.3000C>G
2g.227055987G>TCA350840889COL4A4c.2674C>A (p.Pro892Thr)
c.2119C>A (p.Pro707Thr)
c.2566C>A (p.Pro856Thr)
c.1000C>A (p.Pro334Thr)
n.2984C>A
n.3000C>A
2g.227055988A>CCA431499379COL4A4c.2673T>G (p.Gly891=)
c.2118T>G (p.Gly706=)
c.2565T>G (p.Gly855=)
c.999T>G (p.Gly333=)
n.2983T>G
n.2999T>G
2g.227055988A>GCA431499380COL4A4c.2673T>C (p.Gly891=)
c.2118T>C (p.Gly706=)
c.2565T>C (p.Gly855=)
c.999T>C (p.Gly333=)
n.2983T>C
n.2999T>C
2g.227055988A>TCA431499381COL4A4c.2673T>A (p.Gly891=)
c.2118T>A (p.Gly706=)
c.2565T>A (p.Gly855=)
c.999T>A (p.Gly333=)
n.2983T>A
n.2999T>A
2g.227055988_227055989insGATGATGCA2580065881COL4A4c.2672_2673insCATCATC (p.Pro892IlefsTer7)
c.2117_2118insCATCATC (p.Pro707IlefsTer7)
c.2564_2565insCATCATC (p.Pro856IlefsTer7)
c.998_999insCATCATC (p.Pro334IlefsTer7)
n.2982_2983insCATCATC
n.2998_2999insCATCATC
 ClinVar
2g.227055989C>ACA350840891COL4A4c.2672G>T (p.Gly891Val)
c.2117G>T (p.Gly706Val)
c.2564G>T (p.Gly855Val)
c.998G>T (p.Gly333Val)
n.2982G>T
n.2998G>T
2g.227055989C>GCA350840893COL4A4c.2672G>C (p.Gly891Ala)
c.2117G>C (p.Gly706Ala)
c.2564G>C (p.Gly855Ala)
c.998G>C (p.Gly333Ala)
n.2982G>C
n.2998G>C
2g.227055989C>TCA350840894COL4A4c.2672G>A (p.Gly891Asp)
c.2117G>A (p.Gly706Asp)
c.2564G>A (p.Gly855Asp)
c.998G>A (p.Gly333Asp)
n.2982G>A
n.2998G>A
2g.227055990C>ACA350840896COL4A4c.2671G>T (p.Gly891Cys)
c.2116G>T (p.Gly706Cys)
c.2563G>T (p.Gly855Cys)
c.997G>T (p.Gly333Cys)
n.2981G>T
n.2997G>T
2g.227055990C>GCA350840898COL4A4c.2671G>C (p.Gly891Arg)
c.2116G>C (p.Gly706Arg)
c.2563G>C (p.Gly855Arg)
c.997G>C (p.Gly333Arg)
n.2981G>C
n.2997G>C
2g.227055990C>TCA350840900COL4A4c.2671G>A (p.Gly891Ser)
c.2116G>A (p.Gly706Ser)
c.2563G>A (p.Gly855Ser)
c.997G>A (p.Gly333Ser)
n.2981G>A
n.2997G>A
2g.227055991T>ACA431499382COL4A4c.2670A>T (p.Pro890=)
c.2115A>T (p.Pro705=)
c.2562A>T (p.Pro854=)
c.996A>T (p.Pro332=)
n.2980A>T
n.2996A>T
2g.227055991T>CCA431499383COL4A4c.2670A>G (p.Pro890=)
c.2115A>G (p.Pro705=)
c.2562A>G (p.Pro854=)
c.996A>G (p.Pro332=)
n.2980A>G
n.2996A>G
2g.227055991T>GCA431499384COL4A4c.2670A>C (p.Pro890=)
c.2115A>C (p.Pro705=)
c.2562A>C (p.Pro854=)
c.996A>C (p.Pro332=)
n.2980A>C
n.2996A>C
2g.227055992G>ACA350840901COL4A4c.2669C>T (p.Pro890Leu)
c.2114C>T (p.Pro705Leu)
c.2561C>T (p.Pro854Leu)
c.995C>T (p.Pro332Leu)
n.2979C>T
n.2995C>T
2g.227055992G>CCA350840902COL4A4c.2669C>G (p.Pro890Arg)
c.2114C>G (p.Pro705Arg)
c.2561C>G (p.Pro854Arg)
c.995C>G (p.Pro332Arg)
n.2979C>G
n.2995C>G
2g.227055992G>TCA350840904COL4A4c.2669C>A (p.Pro890Gln)
c.2114C>A (p.Pro705Gln)
c.2561C>A (p.Pro854Gln)
c.995C>A (p.Pro332Gln)
n.2979C>A
n.2995C>A
2g.227055993G>ACA2144745COL4A4c.2668C>T (p.Pro890Ser)
c.2113C>T (p.Pro705Ser)
c.2560C>T (p.Pro854Ser)
c.994C>T (p.Pro332Ser)
n.2978C>T
n.2994C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227055993G>CCA2144746COL4A4c.2668C>G (p.Pro890Ala)
c.2113C>G (p.Pro705Ala)
c.2560C>G (p.Pro854Ala)
c.994C>G (p.Pro332Ala)
n.2978C>G
n.2994C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227055993G=CA1332746331COL4A4c.2668C= (p.Pro890=)
c.2113C= (p.Pro705=)
c.2560C= (p.Pro854=)
c.994C= (p.Pro332=)
n.2978C=
n.2994C=
2g.227055993G>TCA350840907COL4A4c.2668C>A (p.Pro890Thr)
c.2113C>A (p.Pro705Thr)
c.2560C>A (p.Pro854Thr)
c.994C>A (p.Pro332Thr)
n.2978C>A
n.2994C>A
2g.227055994G>ACA431499386COL4A4c.2667C>T (p.Ile889=)
c.2112C>T (p.Ile704=)
c.2559C>T (p.Ile853=)
c.993C>T (p.Ile331=)
n.2977C>T
n.2993C>T
2g.227055994G>CCA350840908COL4A4c.2667C>G (p.Ile889Met)
c.2112C>G (p.Ile704Met)
c.2559C>G (p.Ile853Met)
c.993C>G (p.Ile331Met)
n.2977C>G
n.2993C>G
2g.227055994G>TCA431499385COL4A4c.2667C>A (p.Ile889=)
c.2112C>A (p.Ile704=)
c.2559C>A (p.Ile853=)
c.993C>A (p.Ile331=)
n.2977C>A
n.2993C>A
2g.227055995A>CCA350840909COL4A4c.2666T>G (p.Ile889Ser)
c.2111T>G (p.Ile704Ser)
c.2558T>G (p.Ile853Ser)
c.992T>G (p.Ile331Ser)
n.2976T>G
n.2992T>G
2g.227055995A>GCA350840910COL4A4c.2666T>C (p.Ile889Thr)
c.2111T>C (p.Ile704Thr)
c.2558T>C (p.Ile853Thr)
c.992T>C (p.Ile331Thr)
n.2976T>C
n.2992T>C
2g.227055995A>TCA350840911COL4A4c.2666T>A (p.Ile889Asn)
c.2111T>A (p.Ile704Asn)
c.2558T>A (p.Ile853Asn)
c.992T>A (p.Ile331Asn)
n.2976T>A
n.2992T>A
2g.227055996T>ACA350840912COL4A4c.2665A>T (p.Ile889Phe)
c.2110A>T (p.Ile704Phe)
c.2557A>T (p.Ile853Phe)
c.991A>T (p.Ile331Phe)
n.2975A>T
n.2991A>T
2g.227055996T>CCA350840913COL4A4c.2665A>G (p.Ile889Val)
c.2110A>G (p.Ile704Val)
c.2557A>G (p.Ile853Val)
c.991A>G (p.Ile331Val)
n.2975A>G
n.2991A>G
2g.227055996T>GCA350840914COL4A4c.2665A>C (p.Ile889Leu)
c.2110A>C (p.Ile704Leu)
c.2557A>C (p.Ile853Leu)
c.991A>C (p.Ile331Leu)
n.2975A>C
n.2991A>C
2g.227055997dupCA645520943COL4A4c.2665dup (p.Ile889AsnfsTer8)
c.2110dup (p.Ile704AsnfsTer8)
c.2557dup (p.Ile853AsnfsTer8)
c.991dup (p.Ile331AsnfsTer8)
n.2975dup
n.2991dup
 COSMIC
2g.227055997T>ACA431499387COL4A4c.2664A>T (p.Gly888=)
c.2109A>T (p.Gly703=)
c.2556A>T (p.Gly852=)
c.990A>T (p.Gly330=)
n.2974A>T
n.2990A>T
2g.227055997T>CCA431499388COL4A4c.2664A>G (p.Gly888=)
c.2109A>G (p.Gly703=)
c.2556A>G (p.Gly852=)
c.990A>G (p.Gly330=)
n.2974A>G
n.2990A>G
 dbSNP gnomAD v4
2g.227055997T>GCA431499389COL4A4c.2664A>C (p.Gly888=)
c.2109A>C (p.Gly703=)
c.2556A>C (p.Gly852=)
c.990A>C (p.Gly330=)
n.2974A>C
n.2990A>C
2g.227055997T=CA1332746332COL4A4c.2664A= (p.Gly888=)
c.2109A= (p.Gly703=)
c.2556A= (p.Gly852=)
c.990A= (p.Gly330=)
n.2974A=
n.2990A=
2g.227056006_227056041dupCA2739278761COL4A4c.2629_2664dup (p.Gly888_Ile889insArgProGlyAlaHisGlyProProGlyLeuProGly)
c.2074_2109dup (p.Gly703_Ile704insArgProGlyAlaHisGlyProProGlyLeuProGly)
c.2521_2556dup (p.Gly852_Ile853insArgProGlyAlaHisGlyProProGlyLeuProGly)
c.955_990dup (p.Gly330_Ile331insArgProGlyAlaHisGlyProProGlyLeuProGly)
n.2939_2974dup
n.2955_2990dup
 ClinVar
2g.227056006_227056041delCA915940414COL4A4c.2629_2664del (p.Arg877_Gly888del)
c.2074_2109del (p.Arg692_Gly703del)
c.2521_2556del (p.Arg841_Gly852del)
c.955_990del (p.Arg319_Gly330del)
n.2939_2974del
n.2955_2990del
 ClinVar dbSNP
2g.227055998C>ACA350840915COL4A4c.2663G>T (p.Gly888Val)
c.2108G>T (p.Gly703Val)
c.2555G>T (p.Gly852Val)
c.989G>T (p.Gly330Val)
n.2973G>T
n.2989G>T
 dbSNP
2g.227055998C=CA1332746333COL4A4c.2663G= (p.Gly888=)
c.2108G= (p.Gly703=)
c.2555G= (p.Gly852=)
c.989G= (p.Gly330=)
n.2973G=
n.2989G=
2g.227055998C>GCA350840916COL4A4c.2663G>C (p.Gly888Ala)
c.2108G>C (p.Gly703Ala)
c.2555G>C (p.Gly852Ala)
c.989G>C (p.Gly330Ala)
n.2973G>C
n.2989G>C
2g.227055998C>TCA350840917COL4A4c.2663G>A (p.Gly888Glu)
c.2108G>A (p.Gly703Glu)
c.2555G>A (p.Gly852Glu)
c.989G>A (p.Gly330Glu)
n.2973G>A
n.2989G>A
2g.227056004_227056012delCA2663408045COL4A4c.2655_2663del (p.Leu886_Gly888del)
c.2100_2108del (p.Leu701_Gly703del)
c.2547_2555del (p.Leu850_Gly852del)
c.981_989del (p.Leu328_Gly330del)
n.2965_2973del
n.2981_2989del
 gnomAD v4
2g.227055999C>ACA350840918COL4A4c.2662G>T (p.Gly888Ter)
c.2107G>T (p.Gly703Ter)
c.2554G>T (p.Gly852Ter)
c.988G>T (p.Gly330Ter)
n.2972G>T
n.2988G>T
2g.227055999C=CA1332746334COL4A4c.2662G= (p.Gly888=)
c.2107G= (p.Gly703=)
c.2554G= (p.Gly852=)
c.988G= (p.Gly330=)
n.2972G=
n.2988G=
2g.227055999C>GCA350840919COL4A4c.2662G>C (p.Gly888Arg)
c.2107G>C (p.Gly703Arg)
c.2554G>C (p.Gly852Arg)
c.988G>C (p.Gly330Arg)
n.2972G>C
n.2988G>C
2g.227055999C>TCA350840920COL4A4c.2662G>A (p.Gly888Arg)
c.2107G>A (p.Gly703Arg)
c.2554G>A (p.Gly852Arg)
c.988G>A (p.Gly330Arg)
n.2972G>A
n.2988G>A
 ClinVar dbSNP COSMIC
2g.227056000T>ACA431499390COL4A4c.2661A>T (p.Pro887=)
c.2106A>T (p.Pro702=)
c.2553A>T (p.Pro851=)
c.987A>T (p.Pro329=)
n.2971A>T
n.2987A>T
 gnomAD v4
2g.227056000T>CCA431499391COL4A4c.2661A>G (p.Pro887=)
c.2106A>G (p.Pro702=)
c.2553A>G (p.Pro851=)
c.987A>G (p.Pro329=)
n.2971A>G
n.2987A>G
2g.227056000T>GCA431499392COL4A4c.2661A>C (p.Pro887=)
c.2106A>C (p.Pro702=)
c.2553A>C (p.Pro851=)
c.987A>C (p.Pro329=)
n.2971A>C
n.2987A>C
2g.227056001G>ACA350840921COL4A4c.2660C>T (p.Pro887Leu)
c.2105C>T (p.Pro702Leu)
c.2552C>T (p.Pro851Leu)
c.986C>T (p.Pro329Leu)
n.2970C>T
n.2986C>T
 dbSNP gnomAD v4
2g.227056001G>CCA350840923COL4A4c.2660C>G (p.Pro887Arg)
c.2105C>G (p.Pro702Arg)
c.2552C>G (p.Pro851Arg)
c.986C>G (p.Pro329Arg)
n.2970C>G
n.2986C>G
2g.227056001G=CA1332746335COL4A4c.2660C= (p.Pro887=)
c.2105C= (p.Pro702=)
c.2552C= (p.Pro851=)
c.986C= (p.Pro329=)
n.2970C=
n.2986C=
2g.227056001G>TCA350840922COL4A4c.2660C>A (p.Pro887Gln)
c.2105C>A (p.Pro702Gln)
c.2552C>A (p.Pro851Gln)
c.986C>A (p.Pro329Gln)
n.2970C>A
n.2986C>A
2g.227056003_227056029delCA2740096481COL4A4c.2634_2660del (p.Gly879_Pro887del)
c.2079_2105del (p.Gly694_Pro702del)
c.2526_2552del (p.Gly843_Pro851del)
c.960_986del (p.Gly321_Pro329del)
n.2944_2970del
n.2960_2986del
 ClinVar
2g.227056002G>ACA350840924COL4A4c.2659C>T (p.Pro887Ser)
c.2104C>T (p.Pro702Ser)
c.2551C>T (p.Pro851Ser)
c.985C>T (p.Pro329Ser)
n.2969C>T
n.2985C>T
2g.227056002G>CCA350840925COL4A4c.2659C>G (p.Pro887Ala)
c.2104C>G (p.Pro702Ala)
c.2551C>G (p.Pro851Ala)
c.985C>G (p.Pro329Ala)
n.2969C>G
n.2985C>G
2g.227056002G>TCA350840926COL4A4c.2659C>A (p.Pro887Thr)
c.2104C>A (p.Pro702Thr)
c.2551C>A (p.Pro851Thr)
c.985C>A (p.Pro329Thr)
n.2969C>A
n.2985C>A
2g.227056003G>ACA431499393COL4A4c.2658C>T (p.Leu886=)
c.2103C>T (p.Leu701=)
c.2550C>T (p.Leu850=)
c.984C>T (p.Leu328=)
n.2968C>T
n.2984C>T
2g.227056003G>CCA431499394COL4A4c.2658C>G (p.Leu886=)
c.2103C>G (p.Leu701=)
c.2550C>G (p.Leu850=)
c.984C>G (p.Leu328=)
n.2968C>G
n.2984C>G
2g.227056003G=CA1332746336COL4A4c.2658C= (p.Leu886=)
c.2103C= (p.Leu701=)
c.2550C= (p.Leu850=)
c.984C= (p.Leu328=)
n.2968C=
n.2984C=
2g.227056003G>TCA2144747COL4A4c.2658C>A (p.Leu886=)
c.2103C>A (p.Leu701=)
c.2550C>A (p.Leu850=)
c.984C>A (p.Leu328=)
n.2968C>A
n.2984C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227056004A=CA1332746337COL4A4c.2657T= (p.Leu886=)
c.2102T= (p.Leu701=)
c.2549T= (p.Leu850=)
c.983T= (p.Leu328=)
n.2967T=
n.2983T=
2g.227056004A>CCA350840927COL4A4c.2657T>G (p.Leu886Arg)
c.2102T>G (p.Leu701Arg)
c.2549T>G (p.Leu850Arg)
c.983T>G (p.Leu328Arg)
n.2967T>G
n.2983T>G
 dbSNP
2g.227056004A>GCA350840928COL4A4c.2657T>C (p.Leu886Pro)
c.2102T>C (p.Leu701Pro)
c.2549T>C (p.Leu850Pro)
c.983T>C (p.Leu328Pro)
n.2967T>C
n.2983T>C
2g.227056004A>TCA350840929COL4A4c.2657T>A (p.Leu886His)
c.2102T>A (p.Leu701His)
c.2549T>A (p.Leu850His)
c.983T>A (p.Leu328His)
n.2967T>A
n.2983T>A
2g.227056005G>ACA66585076COL4A4c.2656C>T (p.Leu886Phe)
c.2101C>T (p.Leu701Phe)
c.2548C>T (p.Leu850Phe)
c.982C>T (p.Leu328Phe)
n.2966C>T
n.2982C>T
 dbSNP gnomAD v4
2g.227056005G>CCA350840930COL4A4c.2656C>G (p.Leu886Val)
c.2101C>G (p.Leu701Val)
c.2548C>G (p.Leu850Val)
c.982C>G (p.Leu328Val)
n.2966C>G
n.2982C>G
2g.227056005G=CA1332746338COL4A4c.2656C= (p.Leu886=)
c.2101C= (p.Leu701=)
c.2548C= (p.Leu850=)
c.982C= (p.Leu328=)
n.2966C=
n.2982C=
2g.227056005G>TCA350840931COL4A4c.2656C>A (p.Leu886Ile)
c.2101C>A (p.Leu701Ile)
c.2548C>A (p.Leu850Ile)
c.982C>A (p.Leu328Ile)
n.2966C>A
n.2982C>A
2g.227056006dupCA765669586COL4A4c.2656dup (p.Leu886ProfsTer11)
c.2101dup (p.Leu701ProfsTer11)
c.2548dup (p.Leu850ProfsTer11)
c.982dup (p.Leu328ProfsTer11)
n.2966dup
n.2982dup
 ClinVar dbSNP
2g.227056006G>ACA431499395COL4A4c.2655C>T (p.Gly885=)
c.2100C>T (p.Gly700=)
c.2547C>T (p.Gly849=)
c.981C>T (p.Gly327=)
n.2965C>T
n.2981C>T
2g.227056006G>CCA431499396COL4A4c.2655C>G (p.Gly885=)
c.2100C>G (p.Gly700=)
c.2547C>G (p.Gly849=)
c.981C>G (p.Gly327=)
n.2965C>G
n.2981C>G
2g.227056006G=CA1332746339COL4A4c.2655C= (p.Gly885=)
c.2100C= (p.Gly700=)
c.2547C= (p.Gly849=)
c.981C= (p.Gly327=)
n.2965C=
n.2981C=
2g.227056006G>TCA2144748COL4A4c.2655C>A (p.Gly885=)
c.2100C>A (p.Gly700=)
c.2547C>A (p.Gly849=)
c.981C>A (p.Gly327=)
n.2965C>A
n.2981C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227056007C>ACA350840933COL4A4c.2654G>T (p.Gly885Val)
c.2099G>T (p.Gly700Val)
c.2546G>T (p.Gly849Val)
c.980G>T (p.Gly327Val)
n.2964G>T
n.2980G>T
2g.227056007C=CA1332746340COL4A4c.2654G= (p.Gly885=)
c.2099G= (p.Gly700=)
c.2546G= (p.Gly849=)
c.980G= (p.Gly327=)
n.2964G=
n.2980G=
2g.227056007C>GCA350840934COL4A4c.2654G>C (p.Gly885Ala)
c.2099G>C (p.Gly700Ala)
c.2546G>C (p.Gly849Ala)
c.980G>C (p.Gly327Ala)
n.2964G>C
n.2980G>C
2g.227056007C>TCA350840932COL4A4c.2654G>A (p.Gly885Asp)
c.2099G>A (p.Gly700Asp)
c.2546G>A (p.Gly849Asp)
c.980G>A (p.Gly327Asp)
n.2964G>A
n.2980G>A
 ClinVar dbSNP gnomAD v4
2g.227056013_227056039dupCA16617486COL4A4c.2628_2654dup (p.Gly885_Leu886insArgProGlyAlaHisGlyProProGly)
c.2073_2099dup (p.Gly700_Leu701insArgProGlyAlaHisGlyProProGly)
c.2520_2546dup (p.Gly849_Leu850insArgProGlyAlaHisGlyProProGly)
c.954_980dup (p.Gly327_Leu328insArgProGlyAlaHisGlyProProGly)
n.2938_2964dup
n.2954_2980dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227056008C>ACA350840936COL4A4c.2653G>T (p.Gly885Cys)
c.2098G>T (p.Gly700Cys)
c.2545G>T (p.Gly849Cys)
c.979G>T (p.Gly327Cys)
n.2963G>T
n.2979G>T
2g.227056008C>GCA350840935COL4A4c.2653G>C (p.Gly885Arg)
c.2098G>C (p.Gly700Arg)
c.2545G>C (p.Gly849Arg)
c.979G>C (p.Gly327Arg)
n.2963G>C
n.2979G>C
2g.227056008C>TCA350840937COL4A4c.2653G>A (p.Gly885Ser)
c.2098G>A (p.Gly700Ser)
c.2545G>A (p.Gly849Ser)
c.979G>A (p.Gly327Ser)
n.2963G>A
n.2979G>A
2g.227056009T>ACA431499399COL4A4c.2652A>T (p.Pro884=)
c.2097A>T (p.Pro699=)
c.2544A>T (p.Pro848=)
c.978A>T (p.Pro326=)
n.2962A>T
n.2978A>T
2g.227056009T>CCA431499397COL4A4c.2652A>G (p.Pro884=)
c.2097A>G (p.Pro699=)
c.2544A>G (p.Pro848=)
c.978A>G (p.Pro326=)
n.2962A>G
n.2978A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227056009T>GCA431499398COL4A4c.2652A>C (p.Pro884=)
c.2097A>C (p.Pro699=)
c.2544A>C (p.Pro848=)
c.978A>C (p.Pro326=)
n.2962A>C
n.2978A>C
2g.227056009T=CA1332746341COL4A4c.2652A= (p.Pro884=)
c.2097A= (p.Pro699=)
c.2544A= (p.Pro848=)
c.978A= (p.Pro326=)
n.2962A=
n.2978A=
2g.227056010G>ACA350840938COL4A4c.2651C>T (p.Pro884Leu)
c.2096C>T (p.Pro699Leu)
c.2543C>T (p.Pro848Leu)
c.977C>T (p.Pro326Leu)
n.2961C>T
n.2977C>T
 ClinVar
2g.227056010G>CCA350840939COL4A4c.2651C>G (p.Pro884Arg)
c.2096C>G (p.Pro699Arg)
c.2543C>G (p.Pro848Arg)
c.977C>G (p.Pro326Arg)
n.2961C>G
n.2977C>G
2g.227056010G>TCA350840940COL4A4c.2651C>A (p.Pro884Gln)
c.2096C>A (p.Pro699Gln)
c.2543C>A (p.Pro848Gln)
c.977C>A (p.Pro326Gln)
n.2961C>A
n.2977C>A
2g.227056011G>ACA350840941COL4A4c.2650C>T (p.Pro884Ser)
c.2095C>T (p.Pro699Ser)
c.2542C>T (p.Pro848Ser)
c.976C>T (p.Pro326Ser)
n.2960C>T
n.2976C>T
 gnomAD v4
2g.227056011G>CCA350840942COL4A4c.2650C>G (p.Pro884Ala)
c.2095C>G (p.Pro699Ala)
c.2542C>G (p.Pro848Ala)
c.976C>G (p.Pro326Ala)
n.2960C>G
n.2976C>G
2g.227056011G>TCA350840943COL4A4c.2650C>A (p.Pro884Thr)
c.2095C>A (p.Pro699Thr)
c.2542C>A (p.Pro848Thr)
c.976C>A (p.Pro326Thr)
n.2960C>A
n.2976C>A
 gnomAD v4
2g.227056012G>ACA431499400COL4A4c.2649C>T (p.Pro883=)
c.2094C>T (p.Pro698=)
c.2541C>T (p.Pro847=)
c.975C>T (p.Pro325=)
n.2959C>T
n.2975C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227056012G>CCA431499401COL4A4c.2649C>G (p.Pro883=)
c.2094C>G (p.Pro698=)
c.2541C>G (p.Pro847=)
c.975C>G (p.Pro325=)
n.2959C>G
n.2975C>G
2g.227056012G=CA1332746342COL4A4c.2649C= (p.Pro883=)
c.2094C= (p.Pro698=)
c.2541C= (p.Pro847=)
c.975C= (p.Pro325=)
n.2959C=
n.2975C=
2g.227056012G>TCA431499402COL4A4c.2649C>A (p.Pro883=)
c.2094C>A (p.Pro698=)
c.2541C>A (p.Pro847=)
c.975C>A (p.Pro325=)
n.2959C>A
n.2975C>A
 gnomAD v4
2g.227056013G>ACA66585083COL4A4c.2648C>T (p.Pro883Leu)
c.2093C>T (p.Pro698Leu)
c.2540C>T (p.Pro847Leu)
c.974C>T (p.Pro325Leu)
n.2958C>T
n.2974C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227056013G>CCA350840944COL4A4c.2648C>G (p.Pro883Arg)
c.2093C>G (p.Pro698Arg)
c.2540C>G (p.Pro847Arg)
c.974C>G (p.Pro325Arg)
n.2958C>G
n.2974C>G
2g.227056013G=CA1332746343COL4A4c.2648C= (p.Pro883=)
c.2093C= (p.Pro698=)
c.2540C= (p.Pro847=)
c.974C= (p.Pro325=)
n.2958C=
n.2974C=
2g.227056013G>TCA350840945COL4A4c.2648C>A (p.Pro883His)
c.2093C>A (p.Pro698His)
c.2540C>A (p.Pro847His)
c.974C>A (p.Pro325His)
n.2958C>A
n.2974C>A
2g.227056013_227056014insACA2663408046COL4A4c.2647_2648insT (p.Pro883LeufsTer14)
c.2092_2093insT (p.Pro698LeufsTer14)
c.2539_2540insT (p.Pro847LeufsTer14)
c.973_974insT (p.Pro325LeufsTer14)
n.2957_2958insT
n.2973_2974insT
 gnomAD v4
2g.227056014G>ACA2144751COL4A4c.2647C>T (p.Pro883Ser)
c.2092C>T (p.Pro698Ser)
c.2539C>T (p.Pro847Ser)
c.973C>T (p.Pro325Ser)
n.2957C>T
n.2973C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227056014G>CCA350840946COL4A4c.2647C>G (p.Pro883Ala)
c.2092C>G (p.Pro698Ala)
c.2539C>G (p.Pro847Ala)
c.973C>G (p.Pro325Ala)
n.2957C>G
n.2973C>G
 ClinVar
2g.227056014G=CA1332746344COL4A4c.2647C= (p.Pro883=)
c.2092C= (p.Pro698=)
c.2539C= (p.Pro847=)
c.973C= (p.Pro325=)
n.2957C=
n.2973C=
2g.227056014G>TCA2144750COL4A4c.2647C>A (p.Pro883Thr)
c.2092C>A (p.Pro698Thr)
c.2539C>A (p.Pro847Thr)
c.973C>A (p.Pro325Thr)
n.2957C>A
n.2973C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227056015_227056041dupCA2144749COL4A4c.2621_2647dup (p.Gly882_Pro883insLeuProGlyArgProGlyAlaHisGly)
c.2066_2092dup (p.Gly697_Pro698insLeuProGlyArgProGlyAlaHisGly)
c.2513_2539dup (p.Gly846_Pro847insLeuProGlyArgProGlyAlaHisGly)
c.947_973dup (p.Gly324_Pro325insLeuProGlyArgProGlyAlaHisGly)
n.2931_2957dup
n.2947_2973dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227056015A>CCA431499403COL4A4c.2646T>G (p.Gly882=)
c.2091T>G (p.Gly697=)
c.2538T>G (p.Gly846=)
c.972T>G (p.Gly324=)
n.2956T>G
n.2972T>G
 gnomAD v4
2g.227056015A>GCA431499404COL4A4c.2646T>C (p.Gly882=)
c.2091T>C (p.Gly697=)
c.2538T>C (p.Gly846=)
c.972T>C (p.Gly324=)
n.2956T>C
n.2972T>C
 gnomAD v4
2g.227056015A>TCA431499405COL4A4c.2646T>A (p.Gly882=)
c.2091T>A (p.Gly697=)
c.2538T>A (p.Gly846=)
c.972T>A (p.Gly324=)
n.2956T>A
n.2972T>A
2g.227056016C>ACA350840947COL4A4c.2645G>T (p.Gly882Val)
c.2090G>T (p.Gly697Val)
c.2537G>T (p.Gly846Val)
c.971G>T (p.Gly324Val)
n.2955G>T
n.2971G>T
2g.227056016C>GCA350840949COL4A4c.2645G>C (p.Gly882Ala)
c.2090G>C (p.Gly697Ala)
c.2537G>C (p.Gly846Ala)
c.971G>C (p.Gly324Ala)
n.2955G>C
n.2971G>C
2g.227056016C>TCA350840948COL4A4c.2645G>A (p.Gly882Asp)
c.2090G>A (p.Gly697Asp)
c.2537G>A (p.Gly846Asp)
c.971G>A (p.Gly324Asp)
n.2955G>A
n.2971G>A
 COSMIC
2g.227056017delCA2565681532COL4A4c.2645del (p.Gly882ValfsTer?)
c.2090del (p.Gly697ValfsTer?)
c.2537del (p.Gly846ValfsTer?)
c.971del (p.Gly324ValfsTer?)
n.2955del
n.2971del
2g.227056017C>ACA350840950COL4A4c.2644G>T (p.Gly882Cys)
c.2089G>T (p.Gly697Cys)
c.2536G>T (p.Gly846Cys)
c.970G>T (p.Gly324Cys)
n.2954G>T
n.2970G>T
2g.227056017C>GCA350840951COL4A4c.2644G>C (p.Gly882Arg)
c.2089G>C (p.Gly697Arg)
c.2536G>C (p.Gly846Arg)
c.970G>C (p.Gly324Arg)
n.2954G>C
n.2970G>C
2g.227056017C>TCA350840952COL4A4c.2644G>A (p.Gly882Ser)
c.2089G>A (p.Gly697Ser)
c.2536G>A (p.Gly846Ser)
c.970G>A (p.Gly324Ser)
n.2954G>A
n.2970G>A
2g.227056017_227056018insTCCTGGACA2573135644COL4A4c.2643_2644insTCCAGGA (p.Gly882SerfsTer17)
c.2088_2089insTCCAGGA (p.Gly697SerfsTer17)
c.2535_2536insTCCAGGA (p.Gly846SerfsTer17)
c.969_970insTCCAGGA (p.Gly324SerfsTer17)
n.2953_2954insTCCAGGA
n.2969_2970insTCCAGGA
 dbSNP gnomAD v4
2g.227056018A>CCA350840953COL4A4c.2643T>G (p.His881Gln)
c.2088T>G (p.His696Gln)
c.2535T>G (p.His845Gln)
c.969T>G (p.His323Gln)
n.2953T>G
n.2969T>G
2g.227056018A>GCA431499406COL4A4c.2643T>C (p.His881=)
c.2088T>C (p.His696=)
c.2535T>C (p.His845=)
c.969T>C (p.His323=)
n.2953T>C
n.2969T>C
2g.227056018A>TCA350840954COL4A4c.2643T>A (p.His881Gln)
c.2088T>A (p.His696Gln)
c.2535T>A (p.His845Gln)
c.969T>A (p.His323Gln)
n.2953T>A
n.2969T>A
2g.227056019T>ACA350840955COL4A4c.2642A>T (p.His881Leu)
c.2087A>T (p.His696Leu)
c.2534A>T (p.His845Leu)
c.968A>T (p.His323Leu)
n.2952A>T
n.2968A>T
2g.227056019T>CCA350840956COL4A4c.2642A>G (p.His881Arg)
c.2087A>G (p.His696Arg)
c.2534A>G (p.His845Arg)
c.968A>G (p.His323Arg)
n.2952A>G
n.2968A>G
 gnomAD v4
2g.227056019T>GCA350840957COL4A4c.2642A>C (p.His881Pro)
c.2087A>C (p.His696Pro)
c.2534A>C (p.His845Pro)
c.968A>C (p.His323Pro)
n.2952A>C
n.2968A>C
2g.227056020delCA2586971464COL4A4c.2641del (p.His881MetfsTer?)
c.2086del (p.His696MetfsTer?)
c.2533del (p.His845MetfsTer?)
c.967del (p.His323MetfsTer?)
n.2951del
n.2967del
2g.227056020G>ACA350840958COL4A4c.2641C>T (p.His881Tyr)
c.2086C>T (p.His696Tyr)
c.2533C>T (p.His845Tyr)
c.967C>T (p.His323Tyr)
n.2951C>T
n.2967C>T
 gnomAD v4
2g.227056020G>CCA350840959COL4A4c.2641C>G (p.His881Asp)
c.2086C>G (p.His696Asp)
c.2533C>G (p.His845Asp)
c.967C>G (p.His323Asp)
n.2951C>G
n.2967C>G
2g.227056020G>TCA350840960COL4A4c.2641C>A (p.His881Asn)
c.2086C>A (p.His696Asn)
c.2533C>A (p.His845Asn)
c.967C>A (p.His323Asn)
n.2951C>A
n.2967C>A
2g.227056021T>ACA431499407COL4A4c.2640A>T (p.Ala880=)
c.2085A>T (p.Ala695=)
c.2532A>T (p.Ala844=)
c.966A>T (p.Ala322=)
n.2950A>T
n.2966A>T
2g.227056021T>CCA431499408COL4A4c.2640A>G (p.Ala880=)
c.2085A>G (p.Ala695=)
c.2532A>G (p.Ala844=)
c.966A>G (p.Ala322=)
n.2950A>G
n.2966A>G
2g.227056021T>GCA431499409COL4A4c.2640A>C (p.Ala880=)
c.2085A>C (p.Ala695=)
c.2532A>C (p.Ala844=)
c.966A>C (p.Ala322=)
n.2950A>C
n.2966A>C
2g.227056021_227056023delinsTGCCA1332746345COL4A4c.2638_2640delinsGCA (p.Ala880=)
c.2083_2085delinsGCA (p.Ala695=)
c.2530_2532delinsGCA (p.Ala844=)
c.964_966delinsGCA (p.Ala322=)
n.2948_2950delinsGCA
n.2964_2966delinsGCA
2g.227056022G>ACA350840962COL4A4c.2639C>T (p.Ala880Val)
c.2084C>T (p.Ala695Val)
c.2531C>T (p.Ala844Val)
c.965C>T (p.Ala322Val)
n.2949C>T
n.2965C>T
 gnomAD v4
2g.227056022G>CCA350840961COL4A4c.2639C>G (p.Ala880Gly)
c.2084C>G (p.Ala695Gly)
c.2531C>G (p.Ala844Gly)
c.965C>G (p.Ala322Gly)
n.2949C>G
n.2965C>G
 ClinVar
2g.227056022G=CA1332746346COL4A4c.2639C= (p.Ala880=)
c.2084C= (p.Ala695=)
c.2531C= (p.Ala844=)
c.965C= (p.Ala322=)
n.2949C=
n.2965C=
2g.227056022G>TCA2144753COL4A4c.2639C>A (p.Ala880Glu)
c.2084C>A (p.Ala695Glu)
c.2531C>A (p.Ala844Glu)
c.965C>A (p.Ala322Glu)
n.2949C>A
n.2965C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227056022_227056023delCA658653763COL4A4c.2638_2639del (p.Ala880ThrfsTer16)
c.2083_2084del (p.Ala695ThrfsTer16)
c.2530_2531del (p.Ala844ThrfsTer16)
c.964_965del (p.Ala322ThrfsTer16)
n.2948_2949del
n.2964_2965del
 ClinVar dbSNP
2g.227056022_227056023delinsGCCA1332746347COL4A4c.2638_2639delinsGC (p.Ala880=)
c.2083_2084delinsGC (p.Ala695=)
c.2530_2531delinsGC (p.Ala844=)
c.964_965delinsGC (p.Ala322=)
n.2948_2949delinsGC
n.2964_2965delinsGC
2g.227056023C>ACA350840964COL4A4c.2638G>T (p.Ala880Ser)
c.2083G>T (p.Ala695Ser)
c.2530G>T (p.Ala844Ser)
c.964G>T (p.Ala322Ser)
n.2948G>T
n.2964G>T
2g.227056023C=CA1332746348COL4A4c.2638G= (p.Ala880=)
c.2083G= (p.Ala695=)
c.2530G= (p.Ala844=)
c.964G= (p.Ala322=)
n.2948G=
n.2964G=
2g.227056023C>GCA350840963COL4A4c.2638G>C (p.Ala880Pro)
c.2083G>C (p.Ala695Pro)
c.2530G>C (p.Ala844Pro)
c.964G>C (p.Ala322Pro)
n.2948G>C
n.2964G>C
2g.227056023C>TCA66585125COL4A4c.2638G>A (p.Ala880Thr)
c.2083G>A (p.Ala695Thr)
c.2530G>A (p.Ala844Thr)
c.964G>A (p.Ala322Thr)
n.2948G>A
n.2964G>A
 dbSNP gnomAD v4
2g.227056026delCA2144752COL4A4c.2638del (p.Ala880HisfsTer?)
c.2083del (p.Ala695HisfsTer?)
c.2530del (p.Ala844HisfsTer?)
c.964del (p.Ala322HisfsTer?)
n.2948del
n.2964del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227056024C>ACA431499410COL4A4c.2637G>T (p.Gly879=)
c.2082G>T (p.Gly694=)
c.2529G>T (p.Gly843=)
c.963G>T (p.Gly321=)
n.2947G>T
n.2963G>T
2g.227056024C=CA1332746349COL4A4c.2637G= (p.Gly879=)
c.2082G= (p.Gly694=)
c.2529G= (p.Gly843=)
c.963G= (p.Gly321=)
n.2947G=
n.2963G=
2g.227056024C>GCA431499412COL4A4c.2637G>C (p.Gly879=)
c.2082G>C (p.Gly694=)
c.2529G>C (p.Gly843=)
c.963G>C (p.Gly321=)
n.2947G>C
n.2963G>C
2g.227056024C>TCA431499411COL4A4c.2637G>A (p.Gly879=)
c.2082G>A (p.Gly694=)
c.2529G>A (p.Gly843=)
c.963G>A (p.Gly321=)
n.2947G>A
n.2963G>A
 dbSNP gnomAD v2 gnomAD v4
2g.227056025C>ACA350840965COL4A4c.2636G>T (p.Gly879Val)
c.2081G>T (p.Gly694Val)
c.2528G>T (p.Gly843Val)
c.962G>T (p.Gly321Val)
n.2946G>T
n.2962G>T
2g.227056025C>GCA350840966COL4A4c.2636G>C (p.Gly879Ala)
c.2081G>C (p.Gly694Ala)
c.2528G>C (p.Gly843Ala)
c.962G>C (p.Gly321Ala)
n.2946G>C
n.2962G>C
2g.227056025C>TCA350840967COL4A4c.2636G>A (p.Gly879Glu)
c.2081G>A (p.Gly694Glu)
c.2528G>A (p.Gly843Glu)
c.962G>A (p.Gly321Glu)
n.2946G>A
n.2962G>A
2g.227056026C>ACA350840968COL4A4c.2635G>T (p.Gly879Trp)
c.2080G>T (p.Gly694Trp)
c.2527G>T (p.Gly843Trp)
c.961G>T (p.Gly321Trp)
n.2945G>T
n.2961G>T
2g.227056026C>GCA350840969COL4A4c.2635G>C (p.Gly879Arg)
c.2080G>C (p.Gly694Arg)
c.2527G>C (p.Gly843Arg)
c.961G>C (p.Gly321Arg)
n.2945G>C
n.2961G>C
2g.227056026C>TCA350840970COL4A4c.2635G>A (p.Gly879Arg)
c.2080G>A (p.Gly694Arg)
c.2527G>A (p.Gly843Arg)
c.961G>A (p.Gly321Arg)
n.2945G>A
n.2961G>A
 ClinVar
2g.227056027delCA2586971465COL4A4c.2634del (p.Ala880HisfsTer?)
c.2079del (p.Ala695HisfsTer?)
c.2526del (p.Ala844HisfsTer?)
c.960del (p.Ala322HisfsTer?)
n.2944del
n.2960del
2g.227056027A=CA1332746350COL4A4c.2634T= (p.Pro878=)
c.2079T= (p.Pro693=)
c.2526T= (p.Pro842=)
c.960T= (p.Pro320=)
n.2944T=
n.2960T=
2g.227056027A>CCA431499413COL4A4c.2634T>G (p.Pro878=)
c.2079T>G (p.Pro693=)
c.2526T>G (p.Pro842=)
c.960T>G (p.Pro320=)
n.2944T>G
n.2960T>G
 ClinVar dbSNP
2g.227056027A>GCA2144754COL4A4c.2634T>C (p.Pro878=)
c.2079T>C (p.Pro693=)
c.2526T>C (p.Pro842=)
c.960T>C (p.Pro320=)
n.2944T>C
n.2960T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227056027A>TCA431499414COL4A4c.2634T>A (p.Pro878=)
c.2079T>A (p.Pro693=)
c.2526T>A (p.Pro842=)
c.960T>A (p.Pro320=)
n.2944T>A
n.2960T>A
2g.227056028G>ACA350840971COL4A4c.2633C>T (p.Pro878Leu)
c.2078C>T (p.Pro693Leu)
c.2525C>T (p.Pro842Leu)
c.959C>T (p.Pro320Leu)
n.2943C>T
n.2959C>T
 gnomAD v4
2g.227056028G>CCA350840972COL4A4c.2633C>G (p.Pro878Arg)
c.2078C>G (p.Pro693Arg)
c.2525C>G (p.Pro842Arg)
c.959C>G (p.Pro320Arg)
n.2943C>G
n.2959C>G
2g.227056028G>TCA350840973COL4A4c.2633C>A (p.Pro878His)
c.2078C>A (p.Pro693His)
c.2525C>A (p.Pro842His)
c.959C>A (p.Pro320His)
n.2943C>A
n.2959C>A
2g.227056029G>ACA350840976COL4A4c.2632C>T (p.Pro878Ser)
c.2077C>T (p.Pro693Ser)
c.2524C>T (p.Pro842Ser)
c.958C>T (p.Pro320Ser)
n.2942C>T
n.2958C>T
2g.227056029G>CCA350840974COL4A4c.2632C>G (p.Pro878Ala)
c.2077C>G (p.Pro693Ala)
c.2524C>G (p.Pro842Ala)
c.958C>G (p.Pro320Ala)
n.2942C>G
n.2958C>G
 dbSNP
2g.227056029G>TCA350840975COL4A4c.2632C>A (p.Pro878Thr)
c.2077C>A (p.Pro693Thr)
c.2524C>A (p.Pro842Thr)
c.958C>A (p.Pro320Thr)
n.2942C>A
n.2958C>A
2g.227056030C>ACA431499415COL4A4c.2631G>T (p.Arg877=)
c.2076G>T (p.Arg692=)
c.2523G>T (p.Arg841=)
c.957G>T (p.Arg319=)
n.2941G>T
n.2957G>T
 ClinVar
2g.227056030C>GCA431499416COL4A4c.2631G>C (p.Arg877=)
c.2076G>C (p.Arg692=)
c.2523G>C (p.Arg841=)
c.957G>C (p.Arg319=)
n.2941G>C
n.2957G>C
 gnomAD v4
2g.227056030C>TCA431499417COL4A4c.2631G>A (p.Arg877=)
c.2076G>A (p.Arg692=)
c.2523G>A (p.Arg841=)
c.957G>A (p.Arg319=)
n.2941G>A
n.2957G>A
 COSMIC
2g.227056031C>ACA350840977COL4A4c.2630G>T (p.Arg877Leu)
c.2075G>T (p.Arg692Leu)
c.2522G>T (p.Arg841Leu)
c.956G>T (p.Arg319Leu)
n.2940G>T
n.2956G>T
2g.227056031C=CA1332746351COL4A4c.2630G= (p.Arg877=)
c.2075G= (p.Arg692=)
c.2522G= (p.Arg841=)
c.956G= (p.Arg319=)
n.2940G=
n.2956G=
2g.227056031C>GCA350840978COL4A4c.2630G>C (p.Arg877Pro)
c.2075G>C (p.Arg692Pro)
c.2522G>C (p.Arg841Pro)
c.956G>C (p.Arg319Pro)
n.2940G>C
n.2956G>C
2g.227056031C>TCA2144755COL4A4c.2630G>A (p.Arg877Gln)
c.2075G>A (p.Arg692Gln)
c.2522G>A (p.Arg841Gln)
c.956G>A (p.Arg319Gln)
n.2940G>A
n.2956G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched