Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227031959G>ACA350837520COL4A4c.3803C>T (p.Pro1268Leu)
c.3248C>T (p.Pro1083Leu)
c.3722C>T (p.Pro1241Leu)
c.3695C>T (p.Pro1232Leu)
c.2129C>T (p.Pro710Leu)
n.4113C>T
c.3686C>T (p.Pro1229Leu)
n.4129C>T
2g.227031959G>CCA350837519COL4A4c.3803C>G (p.Pro1268Arg)
c.3248C>G (p.Pro1083Arg)
c.3722C>G (p.Pro1241Arg)
c.3695C>G (p.Pro1232Arg)
c.2129C>G (p.Pro710Arg)
n.4113C>G
c.3686C>G (p.Pro1229Arg)
n.4129C>G
2g.227031959G>TCA350837518COL4A4c.3803C>A (p.Pro1268His)
c.3248C>A (p.Pro1083His)
c.3722C>A (p.Pro1241His)
c.3695C>A (p.Pro1232His)
c.2129C>A (p.Pro710His)
n.4113C>A
c.3686C>A (p.Pro1229His)
n.4129C>A
 COSMIC
2g.227031960G>ACA350837521COL4A4c.3802C>T (p.Pro1268Ser)
c.3247C>T (p.Pro1083Ser)
c.3721C>T (p.Pro1241Ser)
c.3694C>T (p.Pro1232Ser)
c.2128C>T (p.Pro710Ser)
n.4112C>T
c.3685C>T (p.Pro1229Ser)
n.4128C>T
 ClinVar gnomAD v4
2g.227031960G>CCA350837522COL4A4c.3802C>G (p.Pro1268Ala)
c.3247C>G (p.Pro1083Ala)
c.3721C>G (p.Pro1241Ala)
c.3694C>G (p.Pro1232Ala)
c.2128C>G (p.Pro710Ala)
n.4112C>G
c.3685C>G (p.Pro1229Ala)
n.4128C>G
2g.227031960G>TCA350837523COL4A4c.3802C>A (p.Pro1268Thr)
c.3247C>A (p.Pro1083Thr)
c.3721C>A (p.Pro1241Thr)
c.3694C>A (p.Pro1232Thr)
c.2128C>A (p.Pro710Thr)
n.4112C>A
c.3685C>A (p.Pro1229Thr)
n.4128C>A
 gnomAD v4
2g.227031961A>CCA431663417COL4A4c.3801T>G (p.Gly1267=)
c.3246T>G (p.Gly1082=)
c.3720T>G (p.Gly1240=)
c.3693T>G (p.Gly1231=)
c.2127T>G (p.Gly709=)
n.4111T>G
c.3684T>G (p.Gly1228=)
n.4127T>G
2g.227031961A>GCA431663418COL4A4c.3801T>C (p.Gly1267=)
c.3246T>C (p.Gly1082=)
c.3720T>C (p.Gly1240=)
c.3693T>C (p.Gly1231=)
c.2127T>C (p.Gly709=)
n.4111T>C
c.3684T>C (p.Gly1228=)
n.4127T>C
2g.227031961A>TCA431663420COL4A4c.3801T>A (p.Gly1267=)
c.3246T>A (p.Gly1082=)
c.3720T>A (p.Gly1240=)
c.3693T>A (p.Gly1231=)
c.2127T>A (p.Gly709=)
n.4111T>A
c.3684T>A (p.Gly1228=)
n.4127T>A
 gnomAD v4
2g.227031962C>ACA350837524COL4A4c.3800G>T (p.Gly1267Val)
c.3245G>T (p.Gly1082Val)
c.3719G>T (p.Gly1240Val)
c.3692G>T (p.Gly1231Val)
c.2126G>T (p.Gly709Val)
n.4110G>T
c.3683G>T (p.Gly1228Val)
n.4126G>T
2g.227031962C>GCA350837525COL4A4c.3800G>C (p.Gly1267Ala)
c.3245G>C (p.Gly1082Ala)
c.3719G>C (p.Gly1240Ala)
c.3692G>C (p.Gly1231Ala)
c.2126G>C (p.Gly709Ala)
n.4110G>C
c.3683G>C (p.Gly1228Ala)
n.4126G>C
 gnomAD v4
2g.227031962C>TCA350837526COL4A4c.3800G>A (p.Gly1267Asp)
c.3245G>A (p.Gly1082Asp)
c.3719G>A (p.Gly1240Asp)
c.3692G>A (p.Gly1231Asp)
c.2126G>A (p.Gly709Asp)
n.4110G>A
c.3683G>A (p.Gly1228Asp)
n.4126G>A
2g.227031963delCA2577263251COL4A4c.3800del (p.Gly1267ValfsTer21)
c.3245del (p.Gly1082ValfsTer21)
c.3719del (p.Gly1240ValfsTer21)
c.3692del (p.Gly1231ValfsTer21)
c.2126del (p.Gly709ValfsTer21)
n.4110del
c.3683del (p.Gly1228ValfsTer21)
n.4126del
2g.227031963C>ACA350837527COL4A4c.3799G>T (p.Gly1267Cys)
c.3244G>T (p.Gly1082Cys)
c.3718G>T (p.Gly1240Cys)
c.3691G>T (p.Gly1231Cys)
c.2125G>T (p.Gly709Cys)
n.4109G>T
c.3682G>T (p.Gly1228Cys)
n.4125G>T
2g.227031963C>GCA350837529COL4A4c.3799G>C (p.Gly1267Arg)
c.3244G>C (p.Gly1082Arg)
c.3718G>C (p.Gly1240Arg)
c.3691G>C (p.Gly1231Arg)
c.2125G>C (p.Gly709Arg)
n.4109G>C
c.3682G>C (p.Gly1228Arg)
n.4125G>C
2g.227031963C>TCA350837528COL4A4c.3799G>A (p.Gly1267Ser)
c.3244G>A (p.Gly1082Ser)
c.3718G>A (p.Gly1240Ser)
c.3691G>A (p.Gly1231Ser)
c.2125G>A (p.Gly709Ser)
n.4109G>A
c.3682G>A (p.Gly1228Ser)
n.4125G>A
2g.227031964A=CA1332734722COL4A4c.3798T= (p.Pro1266=)
c.3243T= (p.Pro1081=)
c.3717T= (p.Pro1239=)
c.3690T= (p.Pro1230=)
c.2124T= (p.Pro708=)
n.4108T=
c.3681T= (p.Pro1227=)
n.4124T=
2g.227031964A>CCA431663423COL4A4c.3798T>G (p.Pro1266=)
c.3243T>G (p.Pro1081=)
c.3717T>G (p.Pro1239=)
c.3690T>G (p.Pro1230=)
c.2124T>G (p.Pro708=)
n.4108T>G
c.3681T>G (p.Pro1227=)
n.4124T>G
2g.227031964A>GCA431663424COL4A4c.3798T>C (p.Pro1266=)
c.3243T>C (p.Pro1081=)
c.3717T>C (p.Pro1239=)
c.3690T>C (p.Pro1230=)
c.2124T>C (p.Pro708=)
n.4108T>C
c.3681T>C (p.Pro1227=)
n.4124T>C
2g.227031964A>TCA431663425COL4A4c.3798T>A (p.Pro1266=)
c.3243T>A (p.Pro1081=)
c.3717T>A (p.Pro1239=)
c.3690T>A (p.Pro1230=)
c.2124T>A (p.Pro708=)
n.4108T>A
c.3681T>A (p.Pro1227=)
n.4124T>A
2g.227031965G>ACA350837530COL4A4c.3797C>T (p.Pro1266Leu)
c.3242C>T (p.Pro1081Leu)
c.3716C>T (p.Pro1239Leu)
c.3689C>T (p.Pro1230Leu)
c.2123C>T (p.Pro708Leu)
n.4107C>T
c.3680C>T (p.Pro1227Leu)
n.4123C>T
2g.227031965G>CCA350837531COL4A4c.3797C>G (p.Pro1266Arg)
c.3242C>G (p.Pro1081Arg)
c.3716C>G (p.Pro1239Arg)
c.3689C>G (p.Pro1230Arg)
c.2123C>G (p.Pro708Arg)
n.4107C>G
c.3680C>G (p.Pro1227Arg)
n.4123C>G
2g.227031965G>TCA350837532COL4A4c.3797C>A (p.Pro1266His)
c.3242C>A (p.Pro1081His)
c.3716C>A (p.Pro1239His)
c.3689C>A (p.Pro1230His)
c.2123C>A (p.Pro708His)
n.4107C>A
c.3680C>A (p.Pro1227His)
n.4123C>A
2g.227031966dupCA540306466COL4A4c.3797dup (p.Gly1267TrpfsTer3)
c.3242dup (p.Gly1082TrpfsTer3)
c.3716dup (p.Gly1240TrpfsTer3)
c.3689dup (p.Gly1231TrpfsTer3)
c.2123dup (p.Gly709TrpfsTer3)
n.4107dup
c.3680dup (p.Gly1228TrpfsTer3)
n.4123dup
 dbSNP gnomAD v2 gnomAD v4
2g.227031966G>ACA66561516COL4A4c.3796C>T (p.Pro1266Ser)
c.3241C>T (p.Pro1081Ser)
c.3715C>T (p.Pro1239Ser)
c.3688C>T (p.Pro1230Ser)
c.2122C>T (p.Pro708Ser)
n.4106C>T
c.3679C>T (p.Pro1227Ser)
n.4122C>T
 ClinVar dbSNP gnomAD v4
2g.227031966G>CCA350837533COL4A4c.3796C>G (p.Pro1266Ala)
c.3241C>G (p.Pro1081Ala)
c.3715C>G (p.Pro1239Ala)
c.3688C>G (p.Pro1230Ala)
c.2122C>G (p.Pro708Ala)
n.4106C>G
c.3679C>G (p.Pro1227Ala)
n.4122C>G
2g.227031966G=CA1332734723COL4A4c.3796C= (p.Pro1266=)
c.3241C= (p.Pro1081=)
c.3715C= (p.Pro1239=)
c.3688C= (p.Pro1230=)
c.2122C= (p.Pro708=)
n.4106C=
c.3679C= (p.Pro1227=)
n.4122C=
2g.227031966G>TCA350837534COL4A4c.3796C>A (p.Pro1266Thr)
c.3241C>A (p.Pro1081Thr)
c.3715C>A (p.Pro1239Thr)
c.3688C>A (p.Pro1230Thr)
c.2122C>A (p.Pro708Thr)
n.4106C>A
c.3679C>A (p.Pro1227Thr)
n.4122C>A
2g.227031967A>CCA431663429COL4A4c.3795T>G (p.Pro1265=)
c.3240T>G (p.Pro1080=)
c.3714T>G (p.Pro1238=)
c.3687T>G (p.Pro1229=)
c.2121T>G (p.Pro707=)
n.4105T>G
c.3678T>G (p.Pro1226=)
n.4121T>G
2g.227031967A>GCA431663430COL4A4c.3795T>C (p.Pro1265=)
c.3240T>C (p.Pro1080=)
c.3714T>C (p.Pro1238=)
c.3687T>C (p.Pro1229=)
c.2121T>C (p.Pro707=)
n.4105T>C
c.3678T>C (p.Pro1226=)
n.4121T>C
2g.227031967A>TCA431663431COL4A4c.3795T>A (p.Pro1265=)
c.3240T>A (p.Pro1080=)
c.3714T>A (p.Pro1238=)
c.3687T>A (p.Pro1229=)
c.2121T>A (p.Pro707=)
n.4105T>A
c.3678T>A (p.Pro1226=)
n.4121T>A
2g.227031968G>ACA350837535COL4A4c.3794C>T (p.Pro1265Leu)
c.3239C>T (p.Pro1080Leu)
c.3713C>T (p.Pro1238Leu)
c.3686C>T (p.Pro1229Leu)
c.2120C>T (p.Pro707Leu)
n.4104C>T
c.3677C>T (p.Pro1226Leu)
n.4120C>T
 dbSNP gnomAD v4
2g.227031968G>CCA350837536COL4A4c.3794C>G (p.Pro1265Arg)
c.3239C>G (p.Pro1080Arg)
c.3713C>G (p.Pro1238Arg)
c.3686C>G (p.Pro1229Arg)
c.2120C>G (p.Pro707Arg)
n.4104C>G
c.3677C>G (p.Pro1226Arg)
n.4120C>G
2g.227031968G=CA1332734724COL4A4c.3794C= (p.Pro1265=)
c.3239C= (p.Pro1080=)
c.3713C= (p.Pro1238=)
c.3686C= (p.Pro1229=)
c.2120C= (p.Pro707=)
n.4104C=
c.3677C= (p.Pro1226=)
n.4120C=
2g.227031968G>TCA350837537COL4A4c.3794C>A (p.Pro1265His)
c.3239C>A (p.Pro1080His)
c.3713C>A (p.Pro1238His)
c.3686C>A (p.Pro1229His)
c.2120C>A (p.Pro707His)
n.4104C>A
c.3677C>A (p.Pro1226His)
n.4120C>A
2g.227031969G>ACA2144420COL4A4c.3793C>T (p.Pro1265Ser)
c.3238C>T (p.Pro1080Ser)
c.3712C>T (p.Pro1238Ser)
c.3685C>T (p.Pro1229Ser)
c.2119C>T (p.Pro707Ser)
n.4103C>T
c.3676C>T (p.Pro1226Ser)
n.4119C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227031969G>CCA350837538COL4A4c.3793C>G (p.Pro1265Ala)
c.3238C>G (p.Pro1080Ala)
c.3712C>G (p.Pro1238Ala)
c.3685C>G (p.Pro1229Ala)
c.2119C>G (p.Pro707Ala)
n.4103C>G
c.3676C>G (p.Pro1226Ala)
n.4119C>G
2g.227031969G=CA1332734725COL4A4c.3793C= (p.Pro1265=)
c.3238C= (p.Pro1080=)
c.3712C= (p.Pro1238=)
c.3685C= (p.Pro1229=)
c.2119C= (p.Pro707=)
n.4103C=
c.3676C= (p.Pro1226=)
n.4119C=
2g.227031969G>TCA350837539COL4A4c.3793C>A (p.Pro1265Thr)
c.3238C>A (p.Pro1080Thr)
c.3712C>A (p.Pro1238Thr)
c.3685C>A (p.Pro1229Thr)
c.2119C>A (p.Pro707Thr)
n.4103C>A
c.3676C>A (p.Pro1226Thr)
n.4119C>A
 gnomAD v4
2g.227031970T>ACA431663434COL4A4c.3792A>T (p.Gly1264=)
c.3237A>T (p.Gly1079=)
c.3711A>T (p.Gly1237=)
c.3684A>T (p.Gly1228=)
c.2118A>T (p.Gly706=)
n.4102A>T
c.3675A>T (p.Gly1225=)
n.4118A>T
2g.227031970T>CCA431663435COL4A4c.3792A>G (p.Gly1264=)
c.3237A>G (p.Gly1079=)
c.3711A>G (p.Gly1237=)
c.3684A>G (p.Gly1228=)
c.2118A>G (p.Gly706=)
n.4102A>G
c.3675A>G (p.Gly1225=)
n.4118A>G
2g.227031970T>GCA431663436COL4A4c.3792A>C (p.Gly1264=)
c.3237A>C (p.Gly1079=)
c.3711A>C (p.Gly1237=)
c.3684A>C (p.Gly1228=)
c.2118A>C (p.Gly706=)
n.4102A>C
c.3675A>C (p.Gly1225=)
n.4118A>C
2g.227031971C>ACA2144421COL4A4c.3791G>T (p.Gly1264Val)
c.3236G>T (p.Gly1079Val)
c.3710G>T (p.Gly1237Val)
c.3683G>T (p.Gly1228Val)
c.2117G>T (p.Gly706Val)
n.4101G>T
c.3674G>T (p.Gly1225Val)
n.4117G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227031971C=CA1332734726COL4A4c.3791G= (p.Gly1264=)
c.3236G= (p.Gly1079=)
c.3710G= (p.Gly1237=)
c.3683G= (p.Gly1228=)
c.2117G= (p.Gly706=)
n.4101G=
c.3674G= (p.Gly1225=)
n.4117G=
2g.227031971C>GCA350837541COL4A4c.3791G>C (p.Gly1264Ala)
c.3236G>C (p.Gly1079Ala)
c.3710G>C (p.Gly1237Ala)
c.3683G>C (p.Gly1228Ala)
c.2117G>C (p.Gly706Ala)
n.4101G>C
c.3674G>C (p.Gly1225Ala)
n.4117G>C
2g.227031971C>TCA350837540COL4A4c.3791G>A (p.Gly1264Glu)
c.3236G>A (p.Gly1079Glu)
c.3710G>A (p.Gly1237Glu)
c.3683G>A (p.Gly1228Glu)
c.2117G>A (p.Gly706Glu)
n.4101G>A
c.3674G>A (p.Gly1225Glu)
n.4117G>A
2g.227031972C>ACA350837542COL4A4c.3790G>T (p.Gly1264Ter)
c.3235G>T (p.Gly1079Ter)
c.3709G>T (p.Gly1237Ter)
c.3682G>T (p.Gly1228Ter)
c.2116G>T (p.Gly706Ter)
n.4100G>T
c.3673G>T (p.Gly1225Ter)
n.4116G>T
2g.227031972C=CA1332734727COL4A4c.3790G= (p.Gly1264=)
c.3235G= (p.Gly1079=)
c.3709G= (p.Gly1237=)
c.3682G= (p.Gly1228=)
c.2116G= (p.Gly706=)
n.4100G=
c.3673G= (p.Gly1225=)
n.4116G=
2g.227031972C>GCA350837543COL4A4c.3790G>C (p.Gly1264Arg)
c.3235G>C (p.Gly1079Arg)
c.3709G>C (p.Gly1237Arg)
c.3682G>C (p.Gly1228Arg)
c.2116G>C (p.Gly706Arg)
n.4100G>C
c.3673G>C (p.Gly1225Arg)
n.4116G>C
2g.227031972C>TCA66561552COL4A4c.3790G>A (p.Gly1264Arg)
c.3235G>A (p.Gly1079Arg)
c.3709G>A (p.Gly1237Arg)
c.3682G>A (p.Gly1228Arg)
c.2116G>A (p.Gly706Arg)
n.4100G>A
c.3673G>A (p.Gly1225Arg)
n.4116G>A
 dbSNP gnomAD v4 COSMIC
2g.227031973C>ACA350837544COL4A4c.3789G>T (p.Gln1263His)
c.3234G>T (p.Gln1078His)
c.3708G>T (p.Gln1236His)
c.3681G>T (p.Gln1227His)
c.2115G>T (p.Gln705His)
n.4099G>T
c.3672G>T (p.Gln1224His)
n.4115G>T
2g.227031973C>GCA350837545COL4A4c.3789G>C (p.Gln1263His)
c.3234G>C (p.Gln1078His)
c.3708G>C (p.Gln1236His)
c.3681G>C (p.Gln1227His)
c.2115G>C (p.Gln705His)
n.4099G>C
c.3672G>C (p.Gln1224His)
n.4115G>C
2g.227031973C>TCA431663438COL4A4c.3789G>A (p.Gln1263=)
c.3234G>A (p.Gln1078=)
c.3708G>A (p.Gln1236=)
c.3681G>A (p.Gln1227=)
c.2115G>A (p.Gln705=)
n.4099G>A
c.3672G>A (p.Gln1224=)
n.4115G>A
2g.227031974T>ACA350837546COL4A4c.3788A>T (p.Gln1263Leu)
c.3233A>T (p.Gln1078Leu)
c.3707A>T (p.Gln1236Leu)
c.3680A>T (p.Gln1227Leu)
c.2114A>T (p.Gln705Leu)
n.4098A>T
c.3671A>T (p.Gln1224Leu)
n.4114A>T
 dbSNP
2g.227031974T>CCA350837547COL4A4c.3788A>G (p.Gln1263Arg)
c.3233A>G (p.Gln1078Arg)
c.3707A>G (p.Gln1236Arg)
c.3680A>G (p.Gln1227Arg)
c.2114A>G (p.Gln705Arg)
n.4098A>G
c.3671A>G (p.Gln1224Arg)
n.4114A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227031974T>GCA350837548COL4A4c.3788A>C (p.Gln1263Pro)
c.3233A>C (p.Gln1078Pro)
c.3707A>C (p.Gln1236Pro)
c.3680A>C (p.Gln1227Pro)
c.2114A>C (p.Gln705Pro)
n.4098A>C
c.3671A>C (p.Gln1224Pro)
n.4114A>C
2g.227031974T=CA1332734728COL4A4c.3788A= (p.Gln1263=)
c.3233A= (p.Gln1078=)
c.3707A= (p.Gln1236=)
c.3680A= (p.Gln1227=)
c.2114A= (p.Gln705=)
n.4098A=
c.3671A= (p.Gln1224=)
n.4114A=
2g.227031975G>ACA350837549COL4A4c.3787C>T (p.Gln1263Ter)
c.3232C>T (p.Gln1078Ter)
c.3706C>T (p.Gln1236Ter)
c.3679C>T (p.Gln1227Ter)
c.2113C>T (p.Gln705Ter)
n.4097C>T
c.3670C>T (p.Gln1224Ter)
n.4113C>T
 COSMIC
2g.227031975G>CCA350837550COL4A4c.3787C>G (p.Gln1263Glu)
c.3232C>G (p.Gln1078Glu)
c.3706C>G (p.Gln1236Glu)
c.3679C>G (p.Gln1227Glu)
c.2113C>G (p.Gln705Glu)
n.4097C>G
c.3670C>G (p.Gln1224Glu)
n.4113C>G
 dbSNP
2g.227031975G>TCA350837551COL4A4c.3787C>A (p.Gln1263Lys)
c.3232C>A (p.Gln1078Lys)
c.3706C>A (p.Gln1236Lys)
c.3679C>A (p.Gln1227Lys)
c.2113C>A (p.Gln705Lys)
n.4097C>A
c.3670C>A (p.Gln1224Lys)
n.4113C>A
2g.227031976A>CCA350837552COL4A4c.3786T>G (p.Asp1262Glu)
c.3231T>G (p.Asp1077Glu)
c.3705T>G (p.Asp1235Glu)
c.3678T>G (p.Asp1226Glu)
c.2112T>G (p.Asp704Glu)
n.4096T>G
c.3669T>G (p.Asp1223Glu)
n.4112T>G
2g.227031976A>GCA431663441COL4A4c.3786T>C (p.Asp1262=)
c.3231T>C (p.Asp1077=)
c.3705T>C (p.Asp1235=)
c.3678T>C (p.Asp1226=)
c.2112T>C (p.Asp704=)
n.4096T>C
c.3669T>C (p.Asp1223=)
n.4112T>C
 gnomAD v4
2g.227031976A>TCA350837553COL4A4c.3786T>A (p.Asp1262Glu)
c.3231T>A (p.Asp1077Glu)
c.3705T>A (p.Asp1235Glu)
c.3678T>A (p.Asp1226Glu)
c.2112T>A (p.Asp704Glu)
n.4096T>A
c.3669T>A (p.Asp1223Glu)
n.4112T>A
 gnomAD v4
2g.227031977T>ACA350837554COL4A4c.3785A>T (p.Asp1262Val)
c.3230A>T (p.Asp1077Val)
c.3704A>T (p.Asp1235Val)
c.3677A>T (p.Asp1226Val)
c.2111A>T (p.Asp704Val)
n.4095A>T
c.3668A>T (p.Asp1223Val)
n.4111A>T
2g.227031977T>CCA350837556COL4A4c.3785A>G (p.Asp1262Gly)
c.3230A>G (p.Asp1077Gly)
c.3704A>G (p.Asp1235Gly)
c.3677A>G (p.Asp1226Gly)
c.2111A>G (p.Asp704Gly)
n.4095A>G
c.3668A>G (p.Asp1223Gly)
n.4111A>G
2g.227031977T>GCA350837555COL4A4c.3785A>C (p.Asp1262Ala)
c.3230A>C (p.Asp1077Ala)
c.3704A>C (p.Asp1235Ala)
c.3677A>C (p.Asp1226Ala)
c.2111A>C (p.Asp704Ala)
n.4095A>C
c.3668A>C (p.Asp1223Ala)
n.4111A>C
2g.227031978C>ACA350837557COL4A4c.3784G>T (p.Asp1262Tyr)
c.3229G>T (p.Asp1077Tyr)
c.3703G>T (p.Asp1235Tyr)
c.3676G>T (p.Asp1226Tyr)
c.2110G>T (p.Asp704Tyr)
n.4094G>T
c.3667G>T (p.Asp1223Tyr)
n.4110G>T
2g.227031978C=CA1332734729COL4A4c.3784G= (p.Asp1262=)
c.3229G= (p.Asp1077=)
c.3703G= (p.Asp1235=)
c.3676G= (p.Asp1226=)
c.2110G= (p.Asp704=)
n.4094G=
c.3667G= (p.Asp1223=)
n.4110G=
2g.227031978C>GCA350837558COL4A4c.3784G>C (p.Asp1262His)
c.3229G>C (p.Asp1077His)
c.3703G>C (p.Asp1235His)
c.3676G>C (p.Asp1226His)
c.2110G>C (p.Asp704His)
n.4094G>C
c.3667G>C (p.Asp1223His)
n.4110G>C
 dbSNP gnomAD v2
2g.227031978C>TCA350837559COL4A4c.3784G>A (p.Asp1262Asn)
c.3229G>A (p.Asp1077Asn)
c.3703G>A (p.Asp1235Asn)
c.3676G>A (p.Asp1226Asn)
c.2110G>A (p.Asp704Asn)
n.4094G>A
c.3667G>A (p.Asp1223Asn)
n.4110G>A
2g.227031979T>ACA431663443COL4A4c.3783A>T (p.Gly1261=)
c.3228A>T (p.Gly1076=)
c.3702A>T (p.Gly1234=)
c.3675A>T (p.Gly1225=)
c.2109A>T (p.Gly703=)
n.4093A>T
c.3666A>T (p.Gly1222=)
n.4109A>T
2g.227031979T>CCA431663444COL4A4c.3783A>G (p.Gly1261=)
c.3228A>G (p.Gly1076=)
c.3702A>G (p.Gly1234=)
c.3675A>G (p.Gly1225=)
c.2109A>G (p.Gly703=)
n.4093A>G
c.3666A>G (p.Gly1222=)
n.4109A>G
2g.227031979T>GCA431663445COL4A4c.3783A>C (p.Gly1261=)
c.3228A>C (p.Gly1076=)
c.3702A>C (p.Gly1234=)
c.3675A>C (p.Gly1225=)
c.2109A>C (p.Gly703=)
n.4093A>C
c.3666A>C (p.Gly1222=)
n.4109A>C
2g.227031980C>ACA350837560COL4A4c.3782G>T (p.Gly1261Val)
c.3227G>T (p.Gly1076Val)
c.3701G>T (p.Gly1234Val)
c.3674G>T (p.Gly1225Val)
c.2108G>T (p.Gly703Val)
n.4092G>T
c.3665G>T (p.Gly1222Val)
n.4108G>T
2g.227031980C>GCA350837561COL4A4c.3782G>C (p.Gly1261Ala)
c.3227G>C (p.Gly1076Ala)
c.3701G>C (p.Gly1234Ala)
c.3674G>C (p.Gly1225Ala)
c.2108G>C (p.Gly703Ala)
n.4092G>C
c.3665G>C (p.Gly1222Ala)
n.4108G>C
2g.227031980C>TCA350837562COL4A4c.3782G>A (p.Gly1261Glu)
c.3227G>A (p.Gly1076Glu)
c.3701G>A (p.Gly1234Glu)
c.3674G>A (p.Gly1225Glu)
c.2108G>A (p.Gly703Glu)
n.4092G>A
c.3665G>A (p.Gly1222Glu)
n.4108G>A
2g.227031981C>ACA350837563COL4A4c.3781G>T (p.Gly1261Ter)
c.3226G>T (p.Gly1076Ter)
c.3700G>T (p.Gly1234Ter)
c.3673G>T (p.Gly1225Ter)
c.2107G>T (p.Gly703Ter)
n.4091G>T
c.3664G>T (p.Gly1222Ter)
n.4107G>T
2g.227031981C>GCA350837564COL4A4c.3781G>C (p.Gly1261Arg)
c.3226G>C (p.Gly1076Arg)
c.3700G>C (p.Gly1234Arg)
c.3673G>C (p.Gly1225Arg)
c.2107G>C (p.Gly703Arg)
n.4091G>C
c.3664G>C (p.Gly1222Arg)
n.4107G>C
 COSMIC
2g.227031981C>TCA350837565COL4A4c.3781G>A (p.Gly1261Arg)
c.3226G>A (p.Gly1076Arg)
c.3700G>A (p.Gly1234Arg)
c.3673G>A (p.Gly1225Arg)
c.2107G>A (p.Gly703Arg)
n.4091G>A
c.3664G>A (p.Gly1222Arg)
n.4107G>A
 ClinVar COSMIC
2g.227031982A=CA1332734730COL4A4c.3780T= (p.Pro1260=)
c.3225T= (p.Pro1075=)
c.3699T= (p.Pro1233=)
c.3672T= (p.Pro1224=)
c.2106T= (p.Pro702=)
n.4090T=
c.3663T= (p.Pro1221=)
n.4106T=
2g.227031982A>CCA2144422COL4A4c.3780T>G (p.Pro1260=)
c.3225T>G (p.Pro1075=)
c.3699T>G (p.Pro1233=)
c.3672T>G (p.Pro1224=)
c.2106T>G (p.Pro702=)
n.4090T>G
c.3663T>G (p.Pro1221=)
n.4106T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227031982A>GCA431663448COL4A4c.3780T>C (p.Pro1260=)
c.3225T>C (p.Pro1075=)
c.3699T>C (p.Pro1233=)
c.3672T>C (p.Pro1224=)
c.2106T>C (p.Pro702=)
n.4090T>C
c.3663T>C (p.Pro1221=)
n.4106T>C
2g.227031982A>TCA431663449COL4A4c.3780T>A (p.Pro1260=)
c.3225T>A (p.Pro1075=)
c.3699T>A (p.Pro1233=)
c.3672T>A (p.Pro1224=)
c.2106T>A (p.Pro702=)
n.4090T>A
c.3663T>A (p.Pro1221=)
n.4106T>A
2g.227031983G>ACA350837568COL4A4c.3779C>T (p.Pro1260Leu)
c.3224C>T (p.Pro1075Leu)
c.3698C>T (p.Pro1233Leu)
c.3671C>T (p.Pro1224Leu)
c.2105C>T (p.Pro702Leu)
n.4089C>T
c.3662C>T (p.Pro1221Leu)
n.4105C>T
2g.227031983G>CCA350837567COL4A4c.3779C>G (p.Pro1260Arg)
c.3224C>G (p.Pro1075Arg)
c.3698C>G (p.Pro1233Arg)
c.3671C>G (p.Pro1224Arg)
c.2105C>G (p.Pro702Arg)
n.4089C>G
c.3662C>G (p.Pro1221Arg)
n.4105C>G
2g.227031983G>TCA350837566COL4A4c.3779C>A (p.Pro1260His)
c.3224C>A (p.Pro1075His)
c.3698C>A (p.Pro1233His)
c.3671C>A (p.Pro1224His)
c.2105C>A (p.Pro702His)
n.4089C>A
c.3662C>A (p.Pro1221His)
n.4105C>A
2g.227031984G>ACA350837569COL4A4c.3778C>T (p.Pro1260Ser)
c.3223C>T (p.Pro1075Ser)
c.3697C>T (p.Pro1233Ser)
c.3670C>T (p.Pro1224Ser)
c.2104C>T (p.Pro702Ser)
n.4088C>T
c.3661C>T (p.Pro1221Ser)
n.4104C>T
 COSMIC
2g.227031984G>CCA350837571COL4A4c.3778C>G (p.Pro1260Ala)
c.3223C>G (p.Pro1075Ala)
c.3697C>G (p.Pro1233Ala)
c.3670C>G (p.Pro1224Ala)
c.2104C>G (p.Pro702Ala)
n.4088C>G
c.3661C>G (p.Pro1221Ala)
n.4104C>G
2g.227031984G>TCA350837570COL4A4c.3778C>A (p.Pro1260Thr)
c.3223C>A (p.Pro1075Thr)
c.3697C>A (p.Pro1233Thr)
c.3670C>A (p.Pro1224Thr)
c.2104C>A (p.Pro702Thr)
n.4088C>A
c.3661C>A (p.Pro1221Thr)
n.4104C>A
2g.227031985T>ACA431663450COL4A4c.3777A>T (p.Pro1259=)
c.3222A>T (p.Pro1074=)
c.3696A>T (p.Pro1232=)
c.3669A>T (p.Pro1223=)
c.2103A>T (p.Pro701=)
n.4087A>T
c.3660A>T (p.Pro1220=)
n.4103A>T
 COSMIC
2g.227031985T>CCA431663451COL4A4c.3777A>G (p.Pro1259=)
c.3222A>G (p.Pro1074=)
c.3696A>G (p.Pro1232=)
c.3669A>G (p.Pro1223=)
c.2103A>G (p.Pro701=)
n.4087A>G
c.3660A>G (p.Pro1220=)
n.4103A>G
2g.227031985T>GCA431663452COL4A4c.3777A>C (p.Pro1259=)
c.3222A>C (p.Pro1074=)
c.3696A>C (p.Pro1232=)
c.3669A>C (p.Pro1223=)
c.2103A>C (p.Pro701=)
n.4087A>C
c.3660A>C (p.Pro1220=)
n.4103A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227031986G>ACA350837572COL4A4c.3776C>T (p.Pro1259Leu)
c.3221C>T (p.Pro1074Leu)
c.3695C>T (p.Pro1232Leu)
c.3668C>T (p.Pro1223Leu)
c.2102C>T (p.Pro701Leu)
n.4086C>T
c.3659C>T (p.Pro1220Leu)
n.4102C>T
2g.227031986G>CCA350837573COL4A4c.3776C>G (p.Pro1259Arg)
c.3221C>G (p.Pro1074Arg)
c.3695C>G (p.Pro1232Arg)
c.3668C>G (p.Pro1223Arg)
c.2102C>G (p.Pro701Arg)
n.4086C>G
c.3659C>G (p.Pro1220Arg)
n.4102C>G
2g.227031986G>TCA350837574COL4A4c.3776C>A (p.Pro1259Gln)
c.3221C>A (p.Pro1074Gln)
c.3695C>A (p.Pro1232Gln)
c.3668C>A (p.Pro1223Gln)
c.2102C>A (p.Pro701Gln)
n.4086C>A
c.3659C>A (p.Pro1220Gln)
n.4102C>A
2g.227031987G>ACA350837575COL4A4c.3775C>T (p.Pro1259Ser)
c.3220C>T (p.Pro1074Ser)
c.3694C>T (p.Pro1232Ser)
c.3667C>T (p.Pro1223Ser)
c.2101C>T (p.Pro701Ser)
n.4085C>T
c.3658C>T (p.Pro1220Ser)
n.4101C>T
 dbSNP
2g.227031987G>CCA350837576COL4A4c.3775C>G (p.Pro1259Ala)
c.3220C>G (p.Pro1074Ala)
c.3694C>G (p.Pro1232Ala)
c.3667C>G (p.Pro1223Ala)
c.2101C>G (p.Pro701Ala)
n.4085C>G
c.3658C>G (p.Pro1220Ala)
n.4101C>G
2g.227031987G=CA1332734731COL4A4c.3775C= (p.Pro1259=)
c.3220C= (p.Pro1074=)
c.3694C= (p.Pro1232=)
c.3667C= (p.Pro1223=)
c.2101C= (p.Pro701=)
n.4085C=
c.3658C= (p.Pro1220=)
n.4101C=
2g.227031987G>TCA350837577COL4A4c.3775C>A (p.Pro1259Thr)
c.3220C>A (p.Pro1074Thr)
c.3694C>A (p.Pro1232Thr)
c.3667C>A (p.Pro1223Thr)
c.2101C>A (p.Pro701Thr)
n.4085C>A
c.3658C>A (p.Pro1220Thr)
n.4101C>A
2g.227031988A>CCA431663454COL4A4c.3774T>G (p.Gly1258=)
c.3219T>G (p.Gly1073=)
c.3693T>G (p.Gly1231=)
c.3666T>G (p.Gly1222=)
c.2100T>G (p.Gly700=)
n.4084T>G
c.3657T>G (p.Gly1219=)
n.4100T>G
2g.227031988A>GCA431663456COL4A4c.3774T>C (p.Gly1258=)
c.3219T>C (p.Gly1073=)
c.3693T>C (p.Gly1231=)
c.3666T>C (p.Gly1222=)
c.2100T>C (p.Gly700=)
n.4084T>C
c.3657T>C (p.Gly1219=)
n.4100T>C
2g.227031988A>TCA431663458COL4A4c.3774T>A (p.Gly1258=)
c.3219T>A (p.Gly1073=)
c.3693T>A (p.Gly1231=)
c.3666T>A (p.Gly1222=)
c.2100T>A (p.Gly700=)
n.4084T>A
c.3657T>A (p.Gly1219=)
n.4100T>A
2g.227031989C>ACA350837578COL4A4c.3773G>T (p.Gly1258Val)
c.3218G>T (p.Gly1073Val)
c.3692G>T (p.Gly1231Val)
c.3665G>T (p.Gly1222Val)
c.2099G>T (p.Gly700Val)
n.4083G>T
c.3656G>T (p.Gly1219Val)
n.4099G>T
 gnomAD v4
2g.227031989C=CA1332734732COL4A4c.3773G= (p.Gly1258=)
c.3218G= (p.Gly1073=)
c.3692G= (p.Gly1231=)
c.3665G= (p.Gly1222=)
c.2099G= (p.Gly700=)
n.4083G=
c.3656G= (p.Gly1219=)
n.4099G=
2g.227031989C>GCA350837579COL4A4c.3773G>C (p.Gly1258Ala)
c.3218G>C (p.Gly1073Ala)
c.3692G>C (p.Gly1231Ala)
c.3665G>C (p.Gly1222Ala)
c.2099G>C (p.Gly700Ala)
n.4083G>C
c.3656G>C (p.Gly1219Ala)
n.4099G>C
2g.227031989C>TCA350837580COL4A4c.3773G>A (p.Gly1258Asp)
c.3218G>A (p.Gly1073Asp)
c.3692G>A (p.Gly1231Asp)
c.3665G>A (p.Gly1222Asp)
c.2099G>A (p.Gly700Asp)
n.4083G>A
c.3656G>A (p.Gly1219Asp)
n.4099G>A
 ClinVar dbSNP gnomAD v4
2g.227031990C>ACA350837581COL4A4c.3772G>T (p.Gly1258Cys)
c.3217G>T (p.Gly1073Cys)
c.3691G>T (p.Gly1231Cys)
c.3664G>T (p.Gly1222Cys)
c.2098G>T (p.Gly700Cys)
n.4082G>T
c.3655G>T (p.Gly1219Cys)
n.4098G>T
2g.227031990C=CA1332734733COL4A4c.3772G= (p.Gly1258=)
c.3217G= (p.Gly1073=)
c.3691G= (p.Gly1231=)
c.3664G= (p.Gly1222=)
c.2098G= (p.Gly700=)
n.4082G=
c.3655G= (p.Gly1219=)
n.4098G=
2g.227031990C>GCA2144423COL4A4c.3772G>C (p.Gly1258Arg)
c.3217G>C (p.Gly1073Arg)
c.3691G>C (p.Gly1231Arg)
c.3664G>C (p.Gly1222Arg)
c.2098G>C (p.Gly700Arg)
n.4082G>C
c.3655G>C (p.Gly1219Arg)
n.4098G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227031990C>TCA350837582COL4A4c.3772G>A (p.Gly1258Ser)
c.3217G>A (p.Gly1073Ser)
c.3691G>A (p.Gly1231Ser)
c.3664G>A (p.Gly1222Ser)
c.2098G>A (p.Gly700Ser)
n.4082G>A
c.3655G>A (p.Gly1219Ser)
n.4098G>A
2g.227031991C>ACA431663461COL4A4c.3771G>T (p.Pro1257=)
c.3216G>T (p.Pro1072=)
c.3690G>T (p.Pro1230=)
c.3663G>T (p.Pro1221=)
c.2097G>T (p.Pro699=)
n.4081G>T
c.3654G>T (p.Pro1218=)
n.4097G>T
2g.227031991C=CA1332734734COL4A4c.3771G= (p.Pro1257=)
c.3216G= (p.Pro1072=)
c.3690G= (p.Pro1230=)
c.3663G= (p.Pro1221=)
c.2097G= (p.Pro699=)
n.4081G=
c.3654G= (p.Pro1218=)
n.4097G=
2g.227031991C>GCA431663462COL4A4c.3771G>C (p.Pro1257=)
c.3216G>C (p.Pro1072=)
c.3690G>C (p.Pro1230=)
c.3663G>C (p.Pro1221=)
c.2097G>C (p.Pro699=)
n.4081G>C
c.3654G>C (p.Pro1218=)
n.4097G>C
2g.227031991C>TCA431663464COL4A4c.3771G>A (p.Pro1257=)
c.3216G>A (p.Pro1072=)
c.3690G>A (p.Pro1230=)
c.3663G>A (p.Pro1221=)
c.2097G>A (p.Pro699=)
n.4081G>A
c.3654G>A (p.Pro1218=)
n.4097G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227031992G>ACA2144424COL4A4c.3770C>T (p.Pro1257Leu)
c.3215C>T (p.Pro1072Leu)
c.3689C>T (p.Pro1230Leu)
c.3662C>T (p.Pro1221Leu)
c.2096C>T (p.Pro699Leu)
n.4080C>T
c.3653C>T (p.Pro1218Leu)
n.4096C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227031992G>CCA2144425COL4A4c.3770C>G (p.Pro1257Arg)
c.3215C>G (p.Pro1072Arg)
c.3689C>G (p.Pro1230Arg)
c.3662C>G (p.Pro1221Arg)
c.2096C>G (p.Pro699Arg)
n.4080C>G
c.3653C>G (p.Pro1218Arg)
n.4096C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227031992G=CA1332734735COL4A4c.3770C= (p.Pro1257=)
c.3215C= (p.Pro1072=)
c.3689C= (p.Pro1230=)
c.3662C= (p.Pro1221=)
c.2096C= (p.Pro699=)
n.4080C=
c.3653C= (p.Pro1218=)
n.4096C=
2g.227031992G>TCA350837583COL4A4c.3770C>A (p.Pro1257Gln)
c.3215C>A (p.Pro1072Gln)
c.3689C>A (p.Pro1230Gln)
c.3662C>A (p.Pro1221Gln)
c.2096C>A (p.Pro699Gln)
n.4080C>A
c.3653C>A (p.Pro1218Gln)
n.4096C>A
2g.227031993G>ACA2144427COL4A4c.3769C>T (p.Pro1257Ser)
c.3214C>T (p.Pro1072Ser)
c.3688C>T (p.Pro1230Ser)
c.3661C>T (p.Pro1221Ser)
c.2095C>T (p.Pro699Ser)
n.4079C>T
c.3652C>T (p.Pro1218Ser)
n.4095C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227031993G>CCA66561579COL4A4c.3769C>G (p.Pro1257Ala)
c.3214C>G (p.Pro1072Ala)
c.3688C>G (p.Pro1230Ala)
c.3661C>G (p.Pro1221Ala)
c.2095C>G (p.Pro699Ala)
n.4079C>G
c.3652C>G (p.Pro1218Ala)
n.4095C>G
 dbSNP gnomAD v2 gnomAD v4
2g.227031993G=CA1332734736COL4A4c.3769C= (p.Pro1257=)
c.3214C= (p.Pro1072=)
c.3688C= (p.Pro1230=)
c.3661C= (p.Pro1221=)
c.2095C= (p.Pro699=)
n.4079C=
c.3652C= (p.Pro1218=)
n.4095C=
2g.227031993G>TCA2144426COL4A4c.3769C>A (p.Pro1257Thr)
c.3214C>A (p.Pro1072Thr)
c.3688C>A (p.Pro1230Thr)
c.3661C>A (p.Pro1221Thr)
c.2095C>A (p.Pro699Thr)
n.4079C>A
c.3652C>A (p.Pro1218Thr)
n.4095C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227031994G>ACA431663465COL4A4c.3768C>T (p.Asp1256=)
c.3213C>T (p.Asp1071=)
c.3687C>T (p.Asp1229=)
c.3660C>T (p.Asp1220=)
c.2094C>T (p.Asp698=)
n.4078C>T
c.3651C>T (p.Asp1217=)
n.4094C>T
2g.227031994G>CCA350837584COL4A4c.3768C>G (p.Asp1256Glu)
c.3213C>G (p.Asp1071Glu)
c.3687C>G (p.Asp1229Glu)
c.3660C>G (p.Asp1220Glu)
c.2094C>G (p.Asp698Glu)
n.4078C>G
c.3651C>G (p.Asp1217Glu)
n.4094C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227031994G=CA1332734737COL4A4c.3768C= (p.Asp1256=)
c.3213C= (p.Asp1071=)
c.3687C= (p.Asp1229=)
c.3660C= (p.Asp1220=)
c.2094C= (p.Asp698=)
n.4078C=
c.3651C= (p.Asp1217=)
n.4094C=
2g.227031994G>TCA350837585COL4A4c.3768C>A (p.Asp1256Glu)
c.3213C>A (p.Asp1071Glu)
c.3687C>A (p.Asp1229Glu)
c.3660C>A (p.Asp1220Glu)
c.2094C>A (p.Asp698Glu)
n.4078C>A
c.3651C>A (p.Asp1217Glu)
n.4094C>A
2g.227031995T>ACA350837586COL4A4c.3767A>T (p.Asp1256Val)
c.3212A>T (p.Asp1071Val)
c.3686A>T (p.Asp1229Val)
c.3659A>T (p.Asp1220Val)
c.2093A>T (p.Asp698Val)
n.4077A>T
c.3650A>T (p.Asp1217Val)
n.4093A>T
2g.227031995T>CCA350837587COL4A4c.3767A>G (p.Asp1256Gly)
c.3212A>G (p.Asp1071Gly)
c.3686A>G (p.Asp1229Gly)
c.3659A>G (p.Asp1220Gly)
c.2093A>G (p.Asp698Gly)
n.4077A>G
c.3650A>G (p.Asp1217Gly)
n.4093A>G
2g.227031995T>GCA350837588COL4A4c.3767A>C (p.Asp1256Ala)
c.3212A>C (p.Asp1071Ala)
c.3686A>C (p.Asp1229Ala)
c.3659A>C (p.Asp1220Ala)
c.2093A>C (p.Asp698Ala)
n.4077A>C
c.3650A>C (p.Asp1217Ala)
n.4093A>C
 gnomAD v4
2g.227031996C>ACA350837589COL4A4c.3766G>T (p.Asp1256Tyr)
c.3211G>T (p.Asp1071Tyr)
c.3685G>T (p.Asp1229Tyr)
c.3658G>T (p.Asp1220Tyr)
c.2092G>T (p.Asp698Tyr)
n.4076G>T
c.3649G>T (p.Asp1217Tyr)
n.4092G>T
2g.227031996C=CA1332734738COL4A4c.3766G= (p.Asp1256=)
c.3211G= (p.Asp1071=)
c.3685G= (p.Asp1229=)
c.3658G= (p.Asp1220=)
c.2092G= (p.Asp698=)
n.4076G=
c.3649G= (p.Asp1217=)
n.4092G=
2g.227031996C>GCA350837590COL4A4c.3766G>C (p.Asp1256His)
c.3211G>C (p.Asp1071His)
c.3685G>C (p.Asp1229His)
c.3658G>C (p.Asp1220His)
c.2092G>C (p.Asp698His)
n.4076G>C
c.3649G>C (p.Asp1217His)
n.4092G>C
2g.227031996C>TCA350837591COL4A4c.3766G>A (p.Asp1256Asn)
c.3211G>A (p.Asp1071Asn)
c.3685G>A (p.Asp1229Asn)
c.3658G>A (p.Asp1220Asn)
c.2092G>A (p.Asp698Asn)
n.4076G>A
c.3649G>A (p.Asp1217Asn)
n.4092G>A
 dbSNP gnomAD v2 gnomAD v4
2g.227031997A=CA1332734739COL4A4c.3765T= (p.Pro1255=)
c.3210T= (p.Pro1070=)
c.3684T= (p.Pro1228=)
c.3657T= (p.Pro1219=)
c.2091T= (p.Pro697=)
n.4075T=
c.3648T= (p.Pro1216=)
n.4091T=
2g.227031997A>CCA431663466COL4A4c.3765T>G (p.Pro1255=)
c.3210T>G (p.Pro1070=)
c.3684T>G (p.Pro1228=)
c.3657T>G (p.Pro1219=)
c.2091T>G (p.Pro697=)
n.4075T>G
c.3648T>G (p.Pro1216=)
n.4091T>G
2g.227031997A>GCA431663467COL4A4c.3765T>C (p.Pro1255=)
c.3210T>C (p.Pro1070=)
c.3684T>C (p.Pro1228=)
c.3657T>C (p.Pro1219=)
c.2091T>C (p.Pro697=)
n.4075T>C
c.3648T>C (p.Pro1216=)
n.4091T>C
 dbSNP
2g.227031997A>TCA431663468COL4A4c.3765T>A (p.Pro1255=)
c.3210T>A (p.Pro1070=)
c.3684T>A (p.Pro1228=)
c.3657T>A (p.Pro1219=)
c.2091T>A (p.Pro697=)
n.4075T>A
c.3648T>A (p.Pro1216=)
n.4091T>A
2g.227031998G>ACA350837594COL4A4c.3764C>T (p.Pro1255Leu)
c.3209C>T (p.Pro1070Leu)
c.3683C>T (p.Pro1228Leu)
c.3656C>T (p.Pro1219Leu)
c.2090C>T (p.Pro697Leu)
n.4074C>T
c.3647C>T (p.Pro1216Leu)
n.4090C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227031998G>CCA350837593COL4A4c.3764C>G (p.Pro1255Arg)
c.3209C>G (p.Pro1070Arg)
c.3683C>G (p.Pro1228Arg)
c.3656C>G (p.Pro1219Arg)
c.2090C>G (p.Pro697Arg)
n.4074C>G
c.3647C>G (p.Pro1216Arg)
n.4090C>G
2g.227031998G=CA1332734740COL4A4c.3764C= (p.Pro1255=)
c.3209C= (p.Pro1070=)
c.3683C= (p.Pro1228=)
c.3656C= (p.Pro1219=)
c.2090C= (p.Pro697=)
n.4074C=
c.3647C= (p.Pro1216=)
n.4090C=
2g.227031998G>TCA350837592COL4A4c.3764C>A (p.Pro1255His)
c.3209C>A (p.Pro1070His)
c.3683C>A (p.Pro1228His)
c.3656C>A (p.Pro1219His)
c.2090C>A (p.Pro697His)
n.4074C>A
c.3647C>A (p.Pro1216His)
n.4090C>A
2g.227031999G>ACA350837595COL4A4c.3763C>T (p.Pro1255Ser)
c.3208C>T (p.Pro1070Ser)
c.3682C>T (p.Pro1228Ser)
c.3655C>T (p.Pro1219Ser)
c.2089C>T (p.Pro697Ser)
n.4073C>T
c.3646C>T (p.Pro1216Ser)
n.4089C>T
 gnomAD v4 COSMIC
2g.227031999G>CCA350837596COL4A4c.3763C>G (p.Pro1255Ala)
c.3208C>G (p.Pro1070Ala)
c.3682C>G (p.Pro1228Ala)
c.3655C>G (p.Pro1219Ala)
c.2089C>G (p.Pro697Ala)
n.4073C>G
c.3646C>G (p.Pro1216Ala)
n.4089C>G
2g.227031999G>TCA350837597COL4A4c.3763C>A (p.Pro1255Thr)
c.3208C>A (p.Pro1070Thr)
c.3682C>A (p.Pro1228Thr)
c.3655C>A (p.Pro1219Thr)
c.2089C>A (p.Pro697Thr)
n.4073C>A
c.3646C>A (p.Pro1216Thr)
n.4089C>A
2g.227032000A>CCA350837598COL4A4c.3762T>G (p.Ile1254Met)
c.3207T>G (p.Ile1069Met)
c.3681T>G (p.Ile1227Met)
c.3654T>G (p.Ile1218Met)
c.2088T>G (p.Ile696Met)
n.4072T>G
c.3645T>G (p.Ile1215Met)
n.4088T>G
2g.227032000A>GCA431663469COL4A4c.3762T>C (p.Ile1254=)
c.3207T>C (p.Ile1069=)
c.3681T>C (p.Ile1227=)
c.3654T>C (p.Ile1218=)
c.2088T>C (p.Ile696=)
n.4072T>C
c.3645T>C (p.Ile1215=)
n.4088T>C
2g.227032000A>TCA431663470COL4A4c.3762T>A (p.Ile1254=)
c.3207T>A (p.Ile1069=)
c.3681T>A (p.Ile1227=)
c.3654T>A (p.Ile1218=)
c.2088T>A (p.Ile696=)
n.4072T>A
c.3645T>A (p.Ile1215=)
n.4088T>A
2g.227032001A=CA1332734741COL4A4c.3761T= (p.Ile1254=)
c.3206T= (p.Ile1069=)
c.3680T= (p.Ile1227=)
c.3653T= (p.Ile1218=)
c.2087T= (p.Ile696=)
n.4071T=
c.3644T= (p.Ile1215=)
n.4087T=
2g.227032001A>CCA350837599COL4A4c.3761T>G (p.Ile1254Ser)
c.3206T>G (p.Ile1069Ser)
c.3680T>G (p.Ile1227Ser)
c.3653T>G (p.Ile1218Ser)
c.2087T>G (p.Ile696Ser)
n.4071T>G
c.3644T>G (p.Ile1215Ser)
n.4087T>G
2g.227032001A>GCA350837600COL4A4c.3761T>C (p.Ile1254Thr)
c.3206T>C (p.Ile1069Thr)
c.3680T>C (p.Ile1227Thr)
c.3653T>C (p.Ile1218Thr)
c.2087T>C (p.Ile696Thr)
n.4071T>C
c.3644T>C (p.Ile1215Thr)
n.4087T>C
 ClinVar dbSNP
2g.227032001A>TCA350837601COL4A4c.3761T>A (p.Ile1254Asn)
c.3206T>A (p.Ile1069Asn)
c.3680T>A (p.Ile1227Asn)
c.3653T>A (p.Ile1218Asn)
c.2087T>A (p.Ile696Asn)
n.4071T>A
c.3644T>A (p.Ile1215Asn)
n.4087T>A
2g.227032002T>ACA350837602COL4A4c.3760A>T (p.Ile1254Phe)
c.3205A>T (p.Ile1069Phe)
c.3679A>T (p.Ile1227Phe)
c.3652A>T (p.Ile1218Phe)
c.2086A>T (p.Ile696Phe)
n.4070A>T
c.3643A>T (p.Ile1215Phe)
n.4086A>T
2g.227032002T>CCA350837603COL4A4c.3760A>G (p.Ile1254Val)
c.3205A>G (p.Ile1069Val)
c.3679A>G (p.Ile1227Val)
c.3652A>G (p.Ile1218Val)
c.2086A>G (p.Ile696Val)
n.4070A>G
c.3643A>G (p.Ile1215Val)
n.4086A>G
 gnomAD v4
2g.227032002T>GCA350837604COL4A4c.3760A>C (p.Ile1254Leu)
c.3205A>C (p.Ile1069Leu)
c.3679A>C (p.Ile1227Leu)
c.3652A>C (p.Ile1218Leu)
c.2086A>C (p.Ile696Leu)
n.4070A>C
c.3643A>C (p.Ile1215Leu)
n.4086A>C
2g.227032003G>ACA431663471COL4A4c.3759C>T (p.Asp1253=)
c.3204C>T (p.Asp1068=)
c.3678C>T (p.Asp1226=)
c.3651C>T (p.Asp1217=)
c.2085C>T (p.Asp695=)
n.4069C>T
c.3642C>T (p.Asp1214=)
n.4085C>T
2g.227032003G>CCA350837605COL4A4c.3759C>G (p.Asp1253Glu)
c.3204C>G (p.Asp1068Glu)
c.3678C>G (p.Asp1226Glu)
c.3651C>G (p.Asp1217Glu)
c.2085C>G (p.Asp695Glu)
n.4069C>G
c.3642C>G (p.Asp1214Glu)
n.4085C>G
2g.227032003G>TCA350837606COL4A4c.3759C>A (p.Asp1253Glu)
c.3204C>A (p.Asp1068Glu)
c.3678C>A (p.Asp1226Glu)
c.3651C>A (p.Asp1217Glu)
c.2085C>A (p.Asp695Glu)
n.4069C>A
c.3642C>A (p.Asp1214Glu)
n.4085C>A
2g.227032004T>ACA350837608COL4A4c.3758A>T (p.Asp1253Val)
c.3203A>T (p.Asp1068Val)
c.3677A>T (p.Asp1226Val)
c.3650A>T (p.Asp1217Val)
c.2084A>T (p.Asp695Val)
n.4068A>T
c.3641A>T (p.Asp1214Val)
n.4084A>T
2g.227032004T>CCA66561600COL4A4c.3758A>G (p.Asp1253Gly)
c.3203A>G (p.Asp1068Gly)
c.3677A>G (p.Asp1226Gly)
c.3650A>G (p.Asp1217Gly)
c.2084A>G (p.Asp695Gly)
n.4068A>G
c.3641A>G (p.Asp1214Gly)
n.4084A>G
 dbSNP
2g.227032004T>GCA350837607COL4A4c.3758A>C (p.Asp1253Ala)
c.3203A>C (p.Asp1068Ala)
c.3677A>C (p.Asp1226Ala)
c.3650A>C (p.Asp1217Ala)
c.2084A>C (p.Asp695Ala)
n.4068A>C
c.3641A>C (p.Asp1214Ala)
n.4084A>C
2g.227032004T=CA1332734742COL4A4c.3758A= (p.Asp1253=)
c.3203A= (p.Asp1068=)
c.3677A= (p.Asp1226=)
c.3650A= (p.Asp1217=)
c.2084A= (p.Asp695=)
n.4068A=
c.3641A= (p.Asp1214=)
n.4084A=
2g.227032005C>ACA350837609COL4A4c.3757G>T (p.Asp1253Tyr)
c.3202G>T (p.Asp1068Tyr)
c.3676G>T (p.Asp1226Tyr)
c.3649G>T (p.Asp1217Tyr)
c.2083G>T (p.Asp695Tyr)
n.4067G>T
c.3640G>T (p.Asp1214Tyr)
n.4083G>T
2g.227032005C>GCA350837610COL4A4c.3757G>C (p.Asp1253His)
c.3202G>C (p.Asp1068His)
c.3676G>C (p.Asp1226His)
c.3649G>C (p.Asp1217His)
c.2083G>C (p.Asp695His)
n.4067G>C
c.3640G>C (p.Asp1214His)
n.4083G>C
2g.227032005C>TCA350837611COL4A4c.3757G>A (p.Asp1253Asn)
c.3202G>A (p.Asp1068Asn)
c.3676G>A (p.Asp1226Asn)
c.3649G>A (p.Asp1217Asn)
c.2083G>A (p.Asp695Asn)
n.4067G>A
c.3640G>A (p.Asp1214Asn)
n.4083G>A
 COSMIC
2g.227032006C>ACA350837612COL4A4c.3756G>T (p.Lys1252Asn)
c.3201G>T (p.Lys1067Asn)
c.3675G>T (p.Lys1225Asn)
c.3648G>T (p.Lys1216Asn)
c.2082G>T (p.Lys694Asn)
n.4066G>T
c.3639G>T (p.Lys1213Asn)
n.4082G>T
2g.227032006C>GCA350837613COL4A4c.3756G>C (p.Lys1252Asn)
c.3201G>C (p.Lys1067Asn)
c.3675G>C (p.Lys1225Asn)
c.3648G>C (p.Lys1216Asn)
c.2082G>C (p.Lys694Asn)
n.4066G>C
c.3639G>C (p.Lys1213Asn)
n.4082G>C
2g.227032006C>TCA431663475COL4A4c.3756G>A (p.Lys1252=)
c.3201G>A (p.Lys1067=)
c.3675G>A (p.Lys1225=)
c.3648G>A (p.Lys1216=)
c.2082G>A (p.Lys694=)
n.4066G>A
c.3639G>A (p.Lys1213=)
n.4082G>A
2g.227032007T>ACA350837616COL4A4c.3755A>T (p.Lys1252Met)
c.3200A>T (p.Lys1067Met)
c.3674A>T (p.Lys1225Met)
c.3647A>T (p.Lys1216Met)
c.2081A>T (p.Lys694Met)
n.4065A>T
c.3638A>T (p.Lys1213Met)
n.4081A>T
2g.227032007T>CCA350837614COL4A4c.3755A>G (p.Lys1252Arg)
c.3200A>G (p.Lys1067Arg)
c.3674A>G (p.Lys1225Arg)
c.3647A>G (p.Lys1216Arg)
c.2081A>G (p.Lys694Arg)
n.4065A>G
c.3638A>G (p.Lys1213Arg)
n.4081A>G
2g.227032007T>GCA350837615COL4A4c.3755A>C (p.Lys1252Thr)
c.3200A>C (p.Lys1067Thr)
c.3674A>C (p.Lys1225Thr)
c.3647A>C (p.Lys1216Thr)
c.2081A>C (p.Lys694Thr)
n.4065A>C
c.3638A>C (p.Lys1213Thr)
n.4081A>C
2g.227032008delCA2580065868COL4A4c.3755del (p.Lys1252ArgfsTer?)
c.3200del (p.Lys1067ArgfsTer?)
c.3674del (p.Lys1225ArgfsTer?)
c.3647del (p.Lys1216ArgfsTer?)
c.2081del (p.Lys694ArgfsTer?)
n.4065del
c.3638del (p.Lys1213ArgfsTer?)
n.4081del
 ClinVar
2g.227032008T>ACA350837617COL4A4c.3754A>T (p.Lys1252Ter)
c.3199A>T (p.Lys1067Ter)
c.3673A>T (p.Lys1225Ter)
c.3646A>T (p.Lys1216Ter)
c.2080A>T (p.Lys694Ter)
n.4064A>T
c.3637A>T (p.Lys1213Ter)
n.4080A>T
2g.227032008T>CCA350837618COL4A4c.3754A>G (p.Lys1252Glu)
c.3199A>G (p.Lys1067Glu)
c.3673A>G (p.Lys1225Glu)
c.3646A>G (p.Lys1216Glu)
c.2080A>G (p.Lys694Glu)
n.4064A>G
c.3637A>G (p.Lys1213Glu)
n.4080A>G
 ClinVar dbSNP gnomAD v4
2g.227032008T>GCA350837619COL4A4c.3754A>C (p.Lys1252Gln)
c.3199A>C (p.Lys1067Gln)
c.3673A>C (p.Lys1225Gln)
c.3646A>C (p.Lys1216Gln)
c.2080A>C (p.Lys694Gln)
n.4064A>C
c.3637A>C (p.Lys1213Gln)
n.4080A>C
2g.227032008T=CA1332734743COL4A4c.3754A= (p.Lys1252=)
c.3199A= (p.Lys1067=)
c.3673A= (p.Lys1225=)
c.3646A= (p.Lys1216=)
c.2080A= (p.Lys694=)
n.4064A=
c.3637A= (p.Lys1213=)
n.4080A=
2g.227032009A=CA1332734744COL4A4c.3753T= (p.Pro1251=)
c.3198T= (p.Pro1066=)
c.3672T= (p.Pro1224=)
c.3645T= (p.Pro1215=)
c.2079T= (p.Pro693=)
n.4063T=
c.3636T= (p.Pro1212=)
n.4079T=
2g.227032009A>CCA431663478COL4A4c.3753T>G (p.Pro1251=)
c.3198T>G (p.Pro1066=)
c.3672T>G (p.Pro1224=)
c.3645T>G (p.Pro1215=)
c.2079T>G (p.Pro693=)
n.4063T>G
c.3636T>G (p.Pro1212=)
n.4079T>G
 dbSNP gnomAD v3 gnomAD v4
2g.227032009A>GCA431663479COL4A4c.3753T>C (p.Pro1251=)
c.3198T>C (p.Pro1066=)
c.3672T>C (p.Pro1224=)
c.3645T>C (p.Pro1215=)
c.2079T>C (p.Pro693=)
n.4063T>C
c.3636T>C (p.Pro1212=)
n.4079T>C
2g.227032009A>TCA431663480COL4A4c.3753T>A (p.Pro1251=)
c.3198T>A (p.Pro1066=)
c.3672T>A (p.Pro1224=)
c.3645T>A (p.Pro1215=)
c.2079T>A (p.Pro693=)
n.4063T>A
c.3636T>A (p.Pro1212=)
n.4079T>A
2g.227032010G>ACA350837620COL4A4c.3752C>T (p.Pro1251Leu)
c.3197C>T (p.Pro1066Leu)
c.3671C>T (p.Pro1224Leu)
c.3644C>T (p.Pro1215Leu)
c.2078C>T (p.Pro693Leu)
n.4062C>T
c.3635C>T (p.Pro1212Leu)
n.4078C>T
2g.227032010G>CCA350837621COL4A4c.3752C>G (p.Pro1251Arg)
c.3197C>G (p.Pro1066Arg)
c.3671C>G (p.Pro1224Arg)
c.3644C>G (p.Pro1215Arg)
c.2078C>G (p.Pro693Arg)
n.4062C>G
c.3635C>G (p.Pro1212Arg)
n.4078C>G
2g.227032010G>TCA350837622COL4A4c.3752C>A (p.Pro1251His)
c.3197C>A (p.Pro1066His)
c.3671C>A (p.Pro1224His)
c.3644C>A (p.Pro1215His)
c.2078C>A (p.Pro693His)
n.4062C>A
c.3635C>A (p.Pro1212His)
n.4078C>A
 gnomAD v4
2g.227032011G>ACA350837624COL4A4c.3751C>T (p.Pro1251Ser)
c.3196C>T (p.Pro1066Ser)
c.3670C>T (p.Pro1224Ser)
c.3643C>T (p.Pro1215Ser)
c.2077C>T (p.Pro693Ser)
n.4061C>T
c.3634C>T (p.Pro1212Ser)
n.4077C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227032011G>CCA350837625COL4A4c.3751C>G (p.Pro1251Ala)
c.3196C>G (p.Pro1066Ala)
c.3670C>G (p.Pro1224Ala)
c.3643C>G (p.Pro1215Ala)
c.2077C>G (p.Pro693Ala)
n.4061C>G
c.3634C>G (p.Pro1212Ala)
n.4077C>G
2g.227032011G=CA1332734745COL4A4c.3751C= (p.Pro1251=)
c.3196C= (p.Pro1066=)
c.3670C= (p.Pro1224=)
c.3643C= (p.Pro1215=)
c.2077C= (p.Pro693=)
n.4061C=
c.3634C= (p.Pro1212=)
n.4077C=
2g.227032011G>TCA350837623COL4A4c.3751C>A (p.Pro1251Thr)
c.3196C>A (p.Pro1066Thr)
c.3670C>A (p.Pro1224Thr)
c.3643C>A (p.Pro1215Thr)
c.2077C>A (p.Pro693Thr)
n.4061C>A
c.3634C>A (p.Pro1212Thr)
n.4077C>A
 ClinVar dbSNP gnomAD v4
2g.227032012A>CCA431663482COL4A4c.3750T>G (p.Ala1250=)
c.3195T>G (p.Ala1065=)
c.3669T>G (p.Ala1223=)
c.3642T>G (p.Ala1214=)
c.2076T>G (p.Ala692=)
n.4060T>G
c.3633T>G (p.Ala1211=)
n.4076T>G
2g.227032012A>GCA431663483COL4A4c.3750T>C (p.Ala1250=)
c.3195T>C (p.Ala1065=)
c.3669T>C (p.Ala1223=)
c.3642T>C (p.Ala1214=)
c.2076T>C (p.Ala692=)
n.4060T>C
c.3633T>C (p.Ala1211=)
n.4076T>C
2g.227032012A>TCA431663484COL4A4c.3750T>A (p.Ala1250=)
c.3195T>A (p.Ala1065=)
c.3669T>A (p.Ala1223=)
c.3642T>A (p.Ala1214=)
c.2076T>A (p.Ala692=)
n.4060T>A
c.3633T>A (p.Ala1211=)
n.4076T>A
2g.227032013G>ACA350837627COL4A4c.3749C>T (p.Ala1250Val)
c.3194C>T (p.Ala1065Val)
c.3668C>T (p.Ala1223Val)
c.3641C>T (p.Ala1214Val)
c.2075C>T (p.Ala692Val)
n.4059C>T
c.3632C>T (p.Ala1211Val)
n.4075C>T
2g.227032013G>CCA350837626COL4A4c.3749C>G (p.Ala1250Gly)
c.3194C>G (p.Ala1065Gly)
c.3668C>G (p.Ala1223Gly)
c.3641C>G (p.Ala1214Gly)
c.2075C>G (p.Ala692Gly)
n.4059C>G
c.3632C>G (p.Ala1211Gly)
n.4075C>G
2g.227032013G>TCA350837628COL4A4c.3749C>A (p.Ala1250Asp)
c.3194C>A (p.Ala1065Asp)
c.3668C>A (p.Ala1223Asp)
c.3641C>A (p.Ala1214Asp)
c.2075C>A (p.Ala692Asp)
n.4059C>A
c.3632C>A (p.Ala1211Asp)
n.4075C>A
2g.227032014C>ACA350837629COL4A4c.3748G>T (p.Ala1250Ser)
c.3193G>T (p.Ala1065Ser)
c.3667G>T (p.Ala1223Ser)
c.3640G>T (p.Ala1214Ser)
c.2074G>T (p.Ala692Ser)
n.4058G>T
c.3631G>T (p.Ala1211Ser)
n.4074G>T
2g.227032014C>GCA350837631COL4A4c.3748G>C (p.Ala1250Pro)
c.3193G>C (p.Ala1065Pro)
c.3667G>C (p.Ala1223Pro)
c.3640G>C (p.Ala1214Pro)
c.2074G>C (p.Ala692Pro)
n.4058G>C
c.3631G>C (p.Ala1211Pro)
n.4074G>C
2g.227032014C>TCA350837630COL4A4c.3748G>A (p.Ala1250Thr)
c.3193G>A (p.Ala1065Thr)
c.3667G>A (p.Ala1223Thr)
c.3640G>A (p.Ala1214Thr)
c.2074G>A (p.Ala692Thr)
n.4058G>A
c.3631G>A (p.Ala1211Thr)
n.4074G>A
 gnomAD v4
2g.227032015T>ACA350837632COL4A4c.3747A>T (p.Arg1249Ser)
c.3192A>T (p.Arg1064Ser)
c.3666A>T (p.Arg1222Ser)
c.3639A>T (p.Arg1213Ser)
c.2073A>T (p.Arg691Ser)
n.4057A>T
c.3630A>T (p.Arg1210Ser)
n.4073A>T
2g.227032015T>CCA431663487COL4A4c.3747A>G (p.Arg1249=)
c.3192A>G (p.Arg1064=)
c.3666A>G (p.Arg1222=)
c.3639A>G (p.Arg1213=)
c.2073A>G (p.Arg691=)
n.4057A>G
c.3630A>G (p.Arg1210=)
n.4073A>G
 dbSNP
2g.227032015T>GCA2144428COL4A4c.3747A>C (p.Arg1249Ser)
c.3192A>C (p.Arg1064Ser)
c.3666A>C (p.Arg1222Ser)
c.3639A>C (p.Arg1213Ser)
c.2073A>C (p.Arg691Ser)
n.4057A>C
c.3630A>C (p.Arg1210Ser)
n.4073A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227032015T=CA1332734746COL4A4c.3747A= (p.Arg1249=)
c.3192A= (p.Arg1064=)
c.3666A= (p.Arg1222=)
c.3639A= (p.Arg1213=)
c.2073A= (p.Arg691=)
n.4057A=
c.3630A= (p.Arg1210=)
n.4073A=
2g.227032016C>ACA350837633COL4A4c.3746G>T (p.Arg1249Ile)
c.3191G>T (p.Arg1064Ile)
c.3665G>T (p.Arg1222Ile)
c.3638G>T (p.Arg1213Ile)
c.2072G>T (p.Arg691Ile)
n.4056G>T
c.3629G>T (p.Arg1210Ile)
n.4072G>T
2g.227032016C>GCA350837634COL4A4c.3746G>C (p.Arg1249Thr)
c.3191G>C (p.Arg1064Thr)
c.3665G>C (p.Arg1222Thr)
c.3638G>C (p.Arg1213Thr)
c.2072G>C (p.Arg691Thr)
n.4056G>C
c.3629G>C (p.Arg1210Thr)
n.4072G>C
2g.227032016C>TCA350837635COL4A4c.3746G>A (p.Arg1249Lys)
c.3191G>A (p.Arg1064Lys)
c.3665G>A (p.Arg1222Lys)
c.3638G>A (p.Arg1213Lys)
c.2072G>A (p.Arg691Lys)
n.4056G>A
c.3629G>A (p.Arg1210Lys)
n.4072G>A
2g.227032017T>ACA350837636COL4A4c.3745A>T (p.Arg1249Ter)
c.3190A>T (p.Arg1064Ter)
c.3664A>T (p.Arg1222Ter)
c.3637A>T (p.Arg1213Ter)
c.2071A>T (p.Arg691Ter)
n.4055A>T
c.3628A>T (p.Arg1210Ter)
n.4071A>T
2g.227032017T>CCA350837637COL4A4c.3745A>G (p.Arg1249Gly)
c.3190A>G (p.Arg1064Gly)
c.3664A>G (p.Arg1222Gly)
c.3637A>G (p.Arg1213Gly)
c.2071A>G (p.Arg691Gly)
n.4055A>G
c.3628A>G (p.Arg1210Gly)
n.4071A>G
2g.227032017T>GCA431663490COL4A4c.3745A>C (p.Arg1249=)
c.3190A>C (p.Arg1064=)
c.3664A>C (p.Arg1222=)
c.3637A>C (p.Arg1213=)
c.2071A>C (p.Arg691=)
n.4055A>C
c.3628A>C (p.Arg1210=)
n.4071A>C
2g.227032018T>ACA431663492COL4A4c.3744A>T (p.Gly1248=)
c.3189A>T (p.Gly1063=)
c.3663A>T (p.Gly1221=)
c.3636A>T (p.Gly1212=)
c.2070A>T (p.Gly690=)
n.4054A>T
c.3627A>T (p.Gly1209=)
n.4070A>T
2g.227032018T>CCA431663493COL4A4c.3744A>G (p.Gly1248=)
c.3189A>G (p.Gly1063=)
c.3663A>G (p.Gly1221=)
c.3636A>G (p.Gly1212=)
c.2070A>G (p.Gly690=)
n.4054A>G
c.3627A>G (p.Gly1209=)
n.4070A>G
2g.227032018T>GCA431663494COL4A4c.3744A>C (p.Gly1248=)
c.3189A>C (p.Gly1063=)
c.3663A>C (p.Gly1221=)
c.3636A>C (p.Gly1212=)
c.2070A>C (p.Gly690=)
n.4054A>C
c.3627A>C (p.Gly1209=)
n.4070A>C
2g.227032019C>ACA350837638COL4A4c.3743G>T (p.Gly1248Val)
c.3188G>T (p.Gly1063Val)
c.3662G>T (p.Gly1221Val)
c.3635G>T (p.Gly1212Val)
c.2069G>T (p.Gly690Val)
n.4053G>T
c.3626G>T (p.Gly1209Val)
n.4069G>T
2g.227032019C=CA1332734747COL4A4c.3743G= (p.Gly1248=)
c.3188G= (p.Gly1063=)
c.3662G= (p.Gly1221=)
c.3635G= (p.Gly1212=)
c.2069G= (p.Gly690=)
n.4053G=
c.3626G= (p.Gly1209=)
n.4069G=
2g.227032019C>GCA350837639COL4A4c.3743G>C (p.Gly1248Ala)
c.3188G>C (p.Gly1063Ala)
c.3662G>C (p.Gly1221Ala)
c.3635G>C (p.Gly1212Ala)
c.2069G>C (p.Gly690Ala)
n.4053G>C
c.3626G>C (p.Gly1209Ala)
n.4069G>C
2g.227032019C>TCA2144429COL4A4c.3743G>A (p.Gly1248Glu)
c.3188G>A (p.Gly1063Glu)
c.3662G>A (p.Gly1221Glu)
c.3635G>A (p.Gly1212Glu)
c.2069G>A (p.Gly690Glu)
n.4053G>A
c.3626G>A (p.Gly1209Glu)
n.4069G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227032020C>ACA350837640COL4A4c.3742G>T (p.Gly1248Ter)
c.3187G>T (p.Gly1063Ter)
c.3661G>T (p.Gly1221Ter)
c.3634G>T (p.Gly1212Ter)
c.2068G>T (p.Gly690Ter)
n.4052G>T
c.3625G>T (p.Gly1209Ter)
n.4068G>T
2g.227032020C=CA1332734748COL4A4c.3742G= (p.Gly1248=)
c.3187G= (p.Gly1063=)
c.3661G= (p.Gly1221=)
c.3634G= (p.Gly1212=)
c.2068G= (p.Gly690=)
n.4052G=
c.3625G= (p.Gly1209=)
n.4068G=
2g.227032020C>GCA350837641COL4A4c.3742G>C (p.Gly1248Arg)
c.3187G>C (p.Gly1063Arg)
c.3661G>C (p.Gly1221Arg)
c.3634G>C (p.Gly1212Arg)
c.2068G>C (p.Gly690Arg)
n.4052G>C
c.3625G>C (p.Gly1209Arg)
n.4068G>C
2g.227032020C>TCA66561616COL4A4c.3742G>A (p.Gly1248Arg)
c.3187G>A (p.Gly1063Arg)
c.3661G>A (p.Gly1221Arg)
c.3634G>A (p.Gly1212Arg)
c.2068G>A (p.Gly690Arg)
n.4052G>A
c.3625G>A (p.Gly1209Arg)
n.4068G>A
 dbSNP gnomAD v4 COSMIC
2g.227032021T>ACA431663496COL4A4c.3741A>T (p.Thr1247=)
c.3186A>T (p.Thr1062=)
c.3660A>T (p.Thr1220=)
c.3633A>T (p.Thr1211=)
c.2067A>T (p.Thr689=)
n.4051A>T
c.3624A>T (p.Thr1208=)
n.4067A>T
2g.227032021T>CCA431663497COL4A4c.3741A>G (p.Thr1247=)
c.3186A>G (p.Thr1062=)
c.3660A>G (p.Thr1220=)
c.3633A>G (p.Thr1211=)
c.2067A>G (p.Thr689=)
n.4051A>G
c.3624A>G (p.Thr1208=)
n.4067A>G
2g.227032021T>GCA66561618COL4A4c.3741A>C (p.Thr1247=)
c.3186A>C (p.Thr1062=)
c.3660A>C (p.Thr1220=)
c.3633A>C (p.Thr1211=)
c.2067A>C (p.Thr689=)
n.4051A>C
c.3624A>C (p.Thr1208=)
n.4067A>C
 dbSNP
2g.227032021T=CA1332734749COL4A4c.3741A= (p.Thr1247=)
c.3186A= (p.Thr1062=)
c.3660A= (p.Thr1220=)
c.3633A= (p.Thr1211=)
c.2067A= (p.Thr689=)
n.4051A=
c.3624A= (p.Thr1208=)
n.4067A=
2g.227032022G>ACA350837644COL4A4c.3740C>T (p.Thr1247Ile)
c.3185C>T (p.Thr1062Ile)
c.3659C>T (p.Thr1220Ile)
c.3632C>T (p.Thr1211Ile)
c.2066C>T (p.Thr689Ile)
n.4050C>T
c.3623C>T (p.Thr1208Ile)
n.4066C>T
2g.227032022G>CCA350837642COL4A4c.3740C>G (p.Thr1247Arg)
c.3185C>G (p.Thr1062Arg)
c.3659C>G (p.Thr1220Arg)
c.3632C>G (p.Thr1211Arg)
c.2066C>G (p.Thr689Arg)
n.4050C>G
c.3623C>G (p.Thr1208Arg)
n.4066C>G
2g.227032022G>TCA350837643COL4A4c.3740C>A (p.Thr1247Lys)
c.3185C>A (p.Thr1062Lys)
c.3659C>A (p.Thr1220Lys)
c.3632C>A (p.Thr1211Lys)
c.2066C>A (p.Thr689Lys)
n.4050C>A
c.3623C>A (p.Thr1208Lys)
n.4066C>A
 gnomAD v4
2g.227032023T>ACA350837645COL4A4c.3739A>T (p.Thr1247Ser)
c.3184A>T (p.Thr1062Ser)
c.3658A>T (p.Thr1220Ser)
c.3631A>T (p.Thr1211Ser)
c.2065A>T (p.Thr689Ser)
n.4049A>T
c.3622A>T (p.Thr1208Ser)
n.4065A>T
2g.227032023T>CCA350837646COL4A4c.3739A>G (p.Thr1247Ala)
c.3184A>G (p.Thr1062Ala)
c.3658A>G (p.Thr1220Ala)
c.3631A>G (p.Thr1211Ala)
c.2065A>G (p.Thr689Ala)
n.4049A>G
c.3622A>G (p.Thr1208Ala)
n.4065A>G
2g.227032023T>GCA350837647COL4A4c.3739A>C (p.Thr1247Pro)
c.3184A>C (p.Thr1062Pro)
c.3658A>C (p.Thr1220Pro)
c.3631A>C (p.Thr1211Pro)
c.2065A>C (p.Thr689Pro)
n.4049A>C
c.3622A>C (p.Thr1208Pro)
n.4065A>C
 gnomAD v4
2g.227032024G>ACA431663502COL4A4c.3738C>T (p.Ala1246=)
c.3183C>T (p.Ala1061=)
c.3657C>T (p.Ala1219=)
c.3630C>T (p.Ala1210=)
c.2064C>T (p.Ala688=)
n.4048C>T
c.3621C>T (p.Ala1207=)
n.4064C>T
 ClinVar dbSNP
2g.227032024G>CCA431663501COL4A4c.3738C>G (p.Ala1246=)
c.3183C>G (p.Ala1061=)
c.3657C>G (p.Ala1219=)
c.3630C>G (p.Ala1210=)
c.2064C>G (p.Ala688=)
n.4048C>G
c.3621C>G (p.Ala1207=)
n.4064C>G
2g.227032024G>TCA431663500COL4A4c.3738C>A (p.Ala1246=)
c.3183C>A (p.Ala1061=)
c.3657C>A (p.Ala1219=)
c.3630C>A (p.Ala1210=)
c.2064C>A (p.Ala688=)
n.4048C>A
c.3621C>A (p.Ala1207=)
n.4064C>A
2g.227032025G>ACA350837650COL4A4c.3737C>T (p.Ala1246Val)
c.3182C>T (p.Ala1061Val)
c.3656C>T (p.Ala1219Val)
c.3629C>T (p.Ala1210Val)
c.2063C>T (p.Ala688Val)
n.4047C>T
c.3620C>T (p.Ala1207Val)
n.4063C>T
2g.227032025G>CCA350837649COL4A4c.3737C>G (p.Ala1246Gly)
c.3182C>G (p.Ala1061Gly)
c.3656C>G (p.Ala1219Gly)
c.3629C>G (p.Ala1210Gly)
c.2063C>G (p.Ala688Gly)
n.4047C>G
c.3620C>G (p.Ala1207Gly)
n.4063C>G
2g.227032025G>TCA350837648COL4A4c.3737C>A (p.Ala1246Asp)
c.3182C>A (p.Ala1061Asp)
c.3656C>A (p.Ala1219Asp)
c.3629C>A (p.Ala1210Asp)
c.2063C>A (p.Ala688Asp)
n.4047C>A
c.3620C>A (p.Ala1207Asp)
n.4063C>A
2g.227032026C>ACA350837651COL4A4c.3736G>T (p.Ala1246Ser)
c.3181G>T (p.Ala1061Ser)
c.3655G>T (p.Ala1219Ser)
c.3628G>T (p.Ala1210Ser)
c.2062G>T (p.Ala688Ser)
n.4046G>T
c.3619G>T (p.Ala1207Ser)
n.4062G>T
2g.227032026C>GCA350837652COL4A4c.3736G>C (p.Ala1246Pro)
c.3181G>C (p.Ala1061Pro)
c.3655G>C (p.Ala1219Pro)
c.3628G>C (p.Ala1210Pro)
c.2062G>C (p.Ala688Pro)
n.4046G>C
c.3619G>C (p.Ala1207Pro)
n.4062G>C
2g.227032026C>TCA350837653COL4A4c.3736G>A (p.Ala1246Thr)
c.3181G>A (p.Ala1061Thr)
c.3655G>A (p.Ala1219Thr)
c.3628G>A (p.Ala1210Thr)
c.2062G>A (p.Ala688Thr)
n.4046G>A
c.3619G>A (p.Ala1207Thr)
n.4062G>A
 ClinVar dbSNP
2g.227032027A>CCA431663504COL4A4c.3735T>G (p.Gly1245=)
c.3180T>G (p.Gly1060=)
c.3654T>G (p.Gly1218=)
c.3627T>G (p.Gly1209=)
c.2061T>G (p.Gly687=)
n.4045T>G
c.3618T>G (p.Gly1206=)
n.4061T>G
2g.227032027A>GCA431663505COL4A4c.3735T>C (p.Gly1245=)
c.3180T>C (p.Gly1060=)
c.3654T>C (p.Gly1218=)
c.3627T>C (p.Gly1209=)
c.2061T>C (p.Gly687=)
n.4045T>C
c.3618T>C (p.Gly1206=)
n.4061T>C
2g.227032027A>TCA431663506COL4A4c.3735T>A (p.Gly1245=)
c.3180T>A (p.Gly1060=)
c.3654T>A (p.Gly1218=)
c.3627T>A (p.Gly1209=)
c.2061T>A (p.Gly687=)
n.4045T>A
c.3618T>A (p.Gly1206=)
n.4061T>A
2g.227032028C>ACA350837654COL4A4c.3734G>T (p.Gly1245Val)
c.3179G>T (p.Gly1060Val)
c.3653G>T (p.Gly1218Val)
c.3626G>T (p.Gly1209Val)
c.2060G>T (p.Gly687Val)
n.4044G>T
c.3617G>T (p.Gly1206Val)
n.4060G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227032028C=CA1332734750COL4A4c.3734G= (p.Gly1245=)
c.3179G= (p.Gly1060=)
c.3653G= (p.Gly1218=)
c.3626G= (p.Gly1209=)
c.2060G= (p.Gly687=)
n.4044G=
c.3617G= (p.Gly1206=)
n.4060G=
2g.227032028C>GCA350837655COL4A4c.3734G>C (p.Gly1245Ala)
c.3179G>C (p.Gly1060Ala)
c.3653G>C (p.Gly1218Ala)
c.3626G>C (p.Gly1209Ala)
c.2060G>C (p.Gly687Ala)
n.4044G>C
c.3617G>C (p.Gly1206Ala)
n.4060G>C
2g.227032028C>TCA350837656COL4A4c.3734G>A (p.Gly1245Asp)
c.3179G>A (p.Gly1060Asp)
c.3653G>A (p.Gly1218Asp)
c.3626G>A (p.Gly1209Asp)
c.2060G>A (p.Gly687Asp)
n.4044G>A
c.3617G>A (p.Gly1206Asp)
n.4060G>A
 gnomAD v4
2g.227032029C>ACA350837657COL4A4c.3733G>T (p.Gly1245Cys)
c.3178G>T (p.Gly1060Cys)
c.3652G>T (p.Gly1218Cys)
c.3625G>T (p.Gly1209Cys)
c.2059G>T (p.Gly687Cys)
n.4043G>T
c.3616G>T (p.Gly1206Cys)
n.4059G>T
2g.227032029C>GCA350837659COL4A4c.3733G>C (p.Gly1245Arg)
c.3178G>C (p.Gly1060Arg)
c.3652G>C (p.Gly1218Arg)
c.3625G>C (p.Gly1209Arg)
c.2059G>C (p.Gly687Arg)
n.4043G>C
c.3616G>C (p.Gly1206Arg)
n.4059G>C
2g.227032029C>TCA350837658COL4A4c.3733G>A (p.Gly1245Ser)
c.3178G>A (p.Gly1060Ser)
c.3652G>A (p.Gly1218Ser)
c.3625G>A (p.Gly1209Ser)
c.2059G>A (p.Gly687Ser)
n.4043G>A
c.3616G>A (p.Gly1206Ser)
n.4059G>A
2g.227032030T>ACA431663508COL4A4c.3732A>T (p.Ala1244=)
c.3177A>T (p.Ala1059=)
c.3651A>T (p.Ala1217=)
c.3624A>T (p.Ala1208=)
c.2058A>T (p.Ala686=)
n.4042A>T
c.3615A>T (p.Ala1205=)
n.4058A>T
2g.227032030T>CCA431663510COL4A4c.3732A>G (p.Ala1244=)
c.3177A>G (p.Ala1059=)
c.3651A>G (p.Ala1217=)
c.3624A>G (p.Ala1208=)
c.2058A>G (p.Ala686=)
n.4042A>G
c.3615A>G (p.Ala1205=)
n.4058A>G
2g.227032030T>GCA2144430COL4A4c.3732A>C (p.Ala1244=)
c.3177A>C (p.Ala1059=)
c.3651A>C (p.Ala1217=)
c.3624A>C (p.Ala1208=)
c.2058A>C (p.Ala686=)
n.4042A>C
c.3615A>C (p.Ala1205=)
n.4058A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227032030T=CA1332734751COL4A4c.3732A= (p.Ala1244=)
c.3177A= (p.Ala1059=)
c.3651A= (p.Ala1217=)
c.3624A= (p.Ala1208=)
c.2058A= (p.Ala686=)
n.4042A=
c.3615A= (p.Ala1205=)
n.4058A=
2g.227032031G>ACA350837660COL4A4c.3731C>T (p.Ala1244Val)
c.3176C>T (p.Ala1059Val)
c.3650C>T (p.Ala1217Val)
c.3623C>T (p.Ala1208Val)
c.2057C>T (p.Ala686Val)
n.4041C>T
c.3614C>T (p.Ala1205Val)
n.4057C>T
2g.227032031G>CCA350837661COL4A4c.3731C>G (p.Ala1244Gly)
c.3176C>G (p.Ala1059Gly)
c.3650C>G (p.Ala1217Gly)
c.3623C>G (p.Ala1208Gly)
c.2057C>G (p.Ala686Gly)
n.4041C>G
c.3614C>G (p.Ala1205Gly)
n.4057C>G
2g.227032031G=CA1332734752COL4A4c.3731C= (p.Ala1244=)
c.3176C= (p.Ala1059=)
c.3650C= (p.Ala1217=)
c.3623C= (p.Ala1208=)
c.2057C= (p.Ala686=)
n.4041C=
c.3614C= (p.Ala1205=)
n.4057C=
2g.227032031G>TCA350837662COL4A4c.3731C>A (p.Ala1244Glu)
c.3176C>A (p.Ala1059Glu)
c.3650C>A (p.Ala1217Glu)
c.3623C>A (p.Ala1208Glu)
c.2057C>A (p.Ala686Glu)
n.4041C>A
c.3614C>A (p.Ala1205Glu)
n.4057C>A
 dbSNP
2g.227032032C>ACA350837663COL4A4c.3730G>T (p.Ala1244Ser)
c.3175G>T (p.Ala1059Ser)
c.3649G>T (p.Ala1217Ser)
c.3622G>T (p.Ala1208Ser)
c.2056G>T (p.Ala686Ser)
n.4040G>T
c.3613G>T (p.Ala1205Ser)
n.4056G>T
2g.227032032C=CA1332734753COL4A4c.3730G= (p.Ala1244=)
c.3175G= (p.Ala1059=)
c.3649G= (p.Ala1217=)
c.3622G= (p.Ala1208=)
c.2056G= (p.Ala686=)
n.4040G=
c.3613G= (p.Ala1205=)
n.4056G=
2g.227032032C>GCA350837664COL4A4c.3730G>C (p.Ala1244Pro)
c.3175G>C (p.Ala1059Pro)
c.3649G>C (p.Ala1217Pro)
c.3622G>C (p.Ala1208Pro)
c.2056G>C (p.Ala686Pro)
n.4040G>C
c.3613G>C (p.Ala1205Pro)
n.4056G>C
2g.227032032C>TCA66561639COL4A4c.3730G>A (p.Ala1244Thr)
c.3175G>A (p.Ala1059Thr)
c.3649G>A (p.Ala1217Thr)
c.3622G>A (p.Ala1208Thr)
c.2056G>A (p.Ala686Thr)
n.4040G>A
c.3613G>A (p.Ala1205Thr)
n.4056G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227032033A>CCA431663511COL4A4c.3729T>G (p.Pro1243=)
c.3174T>G (p.Pro1058=)
c.3648T>G (p.Pro1216=)
c.3621T>G (p.Pro1207=)
c.2055T>G (p.Pro685=)
n.4039T>G
c.3612T>G (p.Pro1204=)
n.4055T>G
2g.227032033A>GCA431663513COL4A4c.3729T>C (p.Pro1243=)
c.3174T>C (p.Pro1058=)
c.3648T>C (p.Pro1216=)
c.3621T>C (p.Pro1207=)
c.2055T>C (p.Pro685=)
n.4039T>C
c.3612T>C (p.Pro1204=)
n.4055T>C
 ClinVar dbSNP
2g.227032033A>TCA431663514COL4A4c.3729T>A (p.Pro1243=)
c.3174T>A (p.Pro1058=)
c.3648T>A (p.Pro1216=)
c.3621T>A (p.Pro1207=)
c.2055T>A (p.Pro685=)
n.4039T>A
c.3612T>A (p.Pro1204=)
n.4055T>A
2g.227032034G>ACA350837665COL4A4c.3728C>T (p.Pro1243Leu)
c.3173C>T (p.Pro1058Leu)
c.3647C>T (p.Pro1216Leu)
c.3620C>T (p.Pro1207Leu)
c.2054C>T (p.Pro685Leu)
n.4038C>T
c.3611C>T (p.Pro1204Leu)
n.4054C>T
 dbSNP gnomAD v4
2g.227032034G>CCA350837666COL4A4c.3728C>G (p.Pro1243Arg)
c.3173C>G (p.Pro1058Arg)
c.3647C>G (p.Pro1216Arg)
c.3620C>G (p.Pro1207Arg)
c.2054C>G (p.Pro685Arg)
n.4038C>G
c.3611C>G (p.Pro1204Arg)
n.4054C>G
2g.227032034G=CA1332734754COL4A4c.3728C= (p.Pro1243=)
c.3173C= (p.Pro1058=)
c.3647C= (p.Pro1216=)
c.3620C= (p.Pro1207=)
c.2054C= (p.Pro685=)
n.4038C=
c.3611C= (p.Pro1204=)
n.4054C=
2g.227032034G>TCA350837667COL4A4c.3728C>A (p.Pro1243His)
c.3173C>A (p.Pro1058His)
c.3647C>A (p.Pro1216His)
c.3620C>A (p.Pro1207His)
c.2054C>A (p.Pro685His)
n.4038C>A
c.3611C>A (p.Pro1204His)
n.4054C>A
2g.227032035G>ACA350837668COL4A4c.3727C>T (p.Pro1243Ser)
c.3172C>T (p.Pro1058Ser)
c.3646C>T (p.Pro1216Ser)
c.3619C>T (p.Pro1207Ser)
c.2053C>T (p.Pro685Ser)
n.4037C>T
c.3610C>T (p.Pro1204Ser)
n.4053C>T
2g.227032035G>CCA350837669COL4A4c.3727C>G (p.Pro1243Ala)
c.3172C>G (p.Pro1058Ala)
c.3646C>G (p.Pro1216Ala)
c.3619C>G (p.Pro1207Ala)
c.2053C>G (p.Pro685Ala)
n.4037C>G
c.3610C>G (p.Pro1204Ala)
n.4053C>G
2g.227032035G>TCA350837670COL4A4c.3727C>A (p.Pro1243Thr)
c.3172C>A (p.Pro1058Thr)
c.3646C>A (p.Pro1216Thr)
c.3619C>A (p.Pro1207Thr)
c.2053C>A (p.Pro685Thr)
n.4037C>A
c.3610C>A (p.Pro1204Thr)
n.4053C>A
2g.227032036A>CCA431663515COL4A4c.3726T>G (p.Gly1242=)
c.3171T>G (p.Gly1057=)
c.3645T>G (p.Gly1215=)
c.3618T>G (p.Gly1206=)
c.2052T>G (p.Gly684=)
n.4036T>G
c.3609T>G (p.Gly1203=)
n.4052T>G
2g.227032036A>GCA431663516COL4A4c.3726T>C (p.Gly1242=)
c.3171T>C (p.Gly1057=)
c.3645T>C (p.Gly1215=)
c.3618T>C (p.Gly1206=)
c.2052T>C (p.Gly684=)
n.4036T>C
c.3609T>C (p.Gly1203=)
n.4052T>C
2g.227032036A>TCA431663517COL4A4c.3726T>A (p.Gly1242=)
c.3171T>A (p.Gly1057=)
c.3645T>A (p.Gly1215=)
c.3618T>A (p.Gly1206=)
c.2052T>A (p.Gly684=)
n.4036T>A
c.3609T>A (p.Gly1203=)
n.4052T>A
2g.227032037C>ACA350837673COL4A4c.3725G>T (p.Gly1242Val)
c.3170G>T (p.Gly1057Val)
c.3644G>T (p.Gly1215Val)
c.3617G>T (p.Gly1206Val)
c.2051G>T (p.Gly684Val)
n.4035G>T
c.3608G>T (p.Gly1203Val)
n.4051G>T
2g.227032037C>GCA350837671COL4A4c.3725G>C (p.Gly1242Ala)
c.3170G>C (p.Gly1057Ala)
c.3644G>C (p.Gly1215Ala)
c.3617G>C (p.Gly1206Ala)
c.2051G>C (p.Gly684Ala)
n.4035G>C
c.3608G>C (p.Gly1203Ala)
n.4051G>C
2g.227032037C>TCA350837672COL4A4c.3725G>A (p.Gly1242Asp)
c.3170G>A (p.Gly1057Asp)
c.3644G>A (p.Gly1215Asp)
c.3617G>A (p.Gly1206Asp)
c.2051G>A (p.Gly684Asp)
n.4035G>A
c.3608G>A (p.Gly1203Asp)
n.4051G>A
2g.227032038C>ACA350837674COL4A4c.3724G>T (p.Gly1242Cys)
c.3169G>T (p.Gly1057Cys)
c.3643G>T (p.Gly1215Cys)
c.3616G>T (p.Gly1206Cys)
c.2050G>T (p.Gly684Cys)
n.4034G>T
c.3607G>T (p.Gly1203Cys)
n.4050G>T
2g.227032038C>GCA350837675COL4A4c.3724G>C (p.Gly1242Arg)
c.3169G>C (p.Gly1057Arg)
c.3643G>C (p.Gly1215Arg)
c.3616G>C (p.Gly1206Arg)
c.2050G>C (p.Gly684Arg)
n.4034G>C
c.3607G>C (p.Gly1203Arg)
n.4050G>C
2g.227032038C>TCA350837676COL4A4c.3724G>A (p.Gly1242Ser)
c.3169G>A (p.Gly1057Ser)
c.3643G>A (p.Gly1215Ser)
c.3616G>A (p.Gly1206Ser)
c.2050G>A (p.Gly684Ser)
n.4034G>A
c.3607G>A (p.Gly1203Ser)
n.4050G>A
2g.227032039A>CCA431663519COL4A4c.3723T>G (p.Pro1241=)
c.3168T>G (p.Pro1056=)
c.3642T>G (p.Pro1214=)
c.3615T>G (p.Pro1205=)
c.2049T>G (p.Pro683=)
n.4033T>G
c.3606T>G (p.Pro1202=)
n.4049T>G
2g.227032039A>GCA431663520COL4A4c.3723T>C (p.Pro1241=)
c.3168T>C (p.Pro1056=)
c.3642T>C (p.Pro1214=)
c.3615T>C (p.Pro1205=)
c.2049T>C (p.Pro683=)
n.4033T>C
c.3606T>C (p.Pro1202=)
n.4049T>C
2g.227032039A>TCA431663522COL4A4c.3723T>A (p.Pro1241=)
c.3168T>A (p.Pro1056=)
c.3642T>A (p.Pro1214=)
c.3615T>A (p.Pro1205=)
c.2049T>A (p.Pro683=)
n.4033T>A
c.3606T>A (p.Pro1202=)
n.4049T>A
2g.227032040G>ACA2144431COL4A4c.3722C>T (p.Pro1241Leu)
c.3167C>T (p.Pro1056Leu)
c.3641C>T (p.Pro1214Leu)
c.3614C>T (p.Pro1205Leu)
c.2048C>T (p.Pro683Leu)
n.4032C>T
c.3605C>T (p.Pro1202Leu)
n.4048C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227032040G>CCA350837677COL4A4c.3722C>G (p.Pro1241Arg)
c.3167C>G (p.Pro1056Arg)
c.3641C>G (p.Pro1214Arg)
c.3614C>G (p.Pro1205Arg)
c.2048C>G (p.Pro683Arg)
n.4032C>G
c.3605C>G (p.Pro1202Arg)
n.4048C>G
 gnomAD v4
2g.227032040G=CA1332734755COL4A4c.3722C= (p.Pro1241=)
c.3167C= (p.Pro1056=)
c.3641C= (p.Pro1214=)
c.3614C= (p.Pro1205=)
c.2048C= (p.Pro683=)
n.4032C=
c.3605C= (p.Pro1202=)
n.4048C=
2g.227032040G>TCA350837678COL4A4c.3722C>A (p.Pro1241His)
c.3167C>A (p.Pro1056His)
c.3641C>A (p.Pro1214His)
c.3614C>A (p.Pro1205His)
c.2048C>A (p.Pro683His)
n.4032C>A
c.3605C>A (p.Pro1202His)
n.4048C>A
2g.227032041G>ACA2144432COL4A4c.3721C>T (p.Pro1241Ser)
c.3166C>T (p.Pro1056Ser)
c.3640C>T (p.Pro1214Ser)
c.3613C>T (p.Pro1205Ser)
c.2047C>T (p.Pro683Ser)
n.4031C>T
c.3604C>T (p.Pro1202Ser)
n.4047C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227032041G>CCA350837679COL4A4c.3721C>G (p.Pro1241Ala)
c.3166C>G (p.Pro1056Ala)
c.3640C>G (p.Pro1214Ala)
c.3613C>G (p.Pro1205Ala)
c.2047C>G (p.Pro683Ala)
n.4031C>G
c.3604C>G (p.Pro1202Ala)
n.4047C>G
2g.227032041G=CA1332734756COL4A4c.3721C= (p.Pro1241=)
c.3166C= (p.Pro1056=)
c.3640C= (p.Pro1214=)
c.3613C= (p.Pro1205=)
c.2047C= (p.Pro683=)
n.4031C=
c.3604C= (p.Pro1202=)
n.4047C=
2g.227032041G>TCA350837680COL4A4c.3721C>A (p.Pro1241Thr)
c.3166C>A (p.Pro1056Thr)
c.3640C>A (p.Pro1214Thr)
c.3613C>A (p.Pro1205Thr)
c.2047C>A (p.Pro683Thr)
n.4031C>A
c.3604C>A (p.Pro1202Thr)
n.4047C>A
2g.227032042T>ACA431663526COL4A4c.3720A>T (p.Pro1240=)
c.3165A>T (p.Pro1055=)
c.3639A>T (p.Pro1213=)
c.3612A>T (p.Pro1204=)
c.2046A>T (p.Pro682=)
n.4030A>T
c.3603A>T (p.Pro1201=)
n.4046A>T
2g.227032042T>CCA431663528COL4A4c.3720A>G (p.Pro1240=)
c.3165A>G (p.Pro1055=)
c.3639A>G (p.Pro1213=)
c.3612A>G (p.Pro1204=)
c.2046A>G (p.Pro682=)
n.4030A>G
c.3603A>G (p.Pro1201=)
n.4046A>G
2g.227032042T>GCA431663530COL4A4c.3720A>C (p.Pro1240=)
c.3165A>C (p.Pro1055=)
c.3639A>C (p.Pro1213=)
c.3612A>C (p.Pro1204=)
c.2046A>C (p.Pro682=)
n.4030A>C
c.3603A>C (p.Pro1201=)
n.4046A>C
2g.227032043G>ACA350837681COL4A4c.3719C>T (p.Pro1240Leu)
c.3164C>T (p.Pro1055Leu)
c.3638C>T (p.Pro1213Leu)
c.3611C>T (p.Pro1204Leu)
c.2045C>T (p.Pro682Leu)
n.4029C>T
c.3602C>T (p.Pro1201Leu)
n.4045C>T
2g.227032043G>CCA350837682COL4A4c.3719C>G (p.Pro1240Arg)
c.3164C>G (p.Pro1055Arg)
c.3638C>G (p.Pro1213Arg)
c.3611C>G (p.Pro1204Arg)
c.2045C>G (p.Pro682Arg)
n.4029C>G
c.3602C>G (p.Pro1201Arg)
n.4045C>G
2g.227032043G>TCA350837683COL4A4c.3719C>A (p.Pro1240Gln)
c.3164C>A (p.Pro1055Gln)
c.3638C>A (p.Pro1213Gln)
c.3611C>A (p.Pro1204Gln)
c.2045C>A (p.Pro682Gln)
n.4029C>A
c.3602C>A (p.Pro1201Gln)
n.4045C>A
2g.227032044delCA2580065870COL4A4c.3719del (p.Pro1240HisfsTer?)
c.3164del (p.Pro1055HisfsTer?)
c.3638del (p.Pro1213HisfsTer?)
c.3611del (p.Pro1204HisfsTer?)
c.2045del (p.Pro682HisfsTer?)
n.4029del
c.3602del (p.Pro1201HisfsTer?)
n.4045del
 ClinVar
2g.227032044G>ACA350837684COL4A4c.3718C>T (p.Pro1240Ser)
c.3163C>T (p.Pro1055Ser)
c.3637C>T (p.Pro1213Ser)
c.3610C>T (p.Pro1204Ser)
c.2044C>T (p.Pro682Ser)
n.4028C>T
c.3601C>T (p.Pro1201Ser)
n.4044C>T
 dbSNP gnomAD v4
2g.227032044G>CCA350837686COL4A4c.3718C>G (p.Pro1240Ala)
c.3163C>G (p.Pro1055Ala)
c.3637C>G (p.Pro1213Ala)
c.3610C>G (p.Pro1204Ala)
c.2044C>G (p.Pro682Ala)
n.4028C>G
c.3601C>G (p.Pro1201Ala)
n.4044C>G
2g.227032044G=CA1332734757COL4A4c.3718C= (p.Pro1240=)
c.3163C= (p.Pro1055=)
c.3637C= (p.Pro1213=)
c.3610C= (p.Pro1204=)
c.2044C= (p.Pro682=)
n.4028C=
c.3601C= (p.Pro1201=)
n.4044C=
2g.227032044G>TCA350837685COL4A4c.3718C>A (p.Pro1240Thr)
c.3163C>A (p.Pro1055Thr)
c.3637C>A (p.Pro1213Thr)
c.3610C>A (p.Pro1204Thr)
c.2044C>A (p.Pro682Thr)
n.4028C>A
c.3601C>A (p.Pro1201Thr)
n.4044C>A
 dbSNP gnomAD v4
2g.227032045T>ACA431663532COL4A4c.3717A>T (p.Gly1239=)
c.3162A>T (p.Gly1054=)
c.3636A>T (p.Gly1212=)
c.3609A>T (p.Gly1203=)
c.2043A>T (p.Gly681=)
n.4027A>T
c.3600A>T (p.Gly1200=)
n.4043A>T
2g.227032045T>CCA431663533COL4A4c.3717A>G (p.Gly1239=)
c.3162A>G (p.Gly1054=)
c.3636A>G (p.Gly1212=)
c.3609A>G (p.Gly1203=)
c.2043A>G (p.Gly681=)
n.4027A>G
c.3600A>G (p.Gly1200=)
n.4043A>G
2g.227032045T>GCA431663535COL4A4c.3717A>C (p.Gly1239=)
c.3162A>C (p.Gly1054=)
c.3636A>C (p.Gly1212=)
c.3609A>C (p.Gly1203=)
c.2043A>C (p.Gly681=)
n.4027A>C
c.3600A>C (p.Gly1200=)
n.4043A>C
2g.227032046C>ACA350837687COL4A4c.3716G>T (p.Gly1239Val)
c.3161G>T (p.Gly1054Val)
c.3635G>T (p.Gly1212Val)
c.3608G>T (p.Gly1203Val)
c.2042G>T (p.Gly681Val)
n.4026G>T
c.3599G>T (p.Gly1200Val)
n.4042G>T
 ClinVar dbSNP
2g.227032046C=CA1332734758COL4A4c.3716G= (p.Gly1239=)
c.3161G= (p.Gly1054=)
c.3635G= (p.Gly1212=)
c.3608G= (p.Gly1203=)
c.2042G= (p.Gly681=)
n.4026G=
c.3599G= (p.Gly1200=)
n.4042G=
2g.227032046C>GCA350837689COL4A4c.3716G>C (p.Gly1239Ala)
c.3161G>C (p.Gly1054Ala)
c.3635G>C (p.Gly1212Ala)
c.3608G>C (p.Gly1203Ala)
c.2042G>C (p.Gly681Ala)
n.4026G>C
c.3599G>C (p.Gly1200Ala)
n.4042G>C
 ClinVar dbSNP
2g.227032046C>TCA350837688COL4A4c.3716G>A (p.Gly1239Glu)
c.3161G>A (p.Gly1054Glu)
c.3635G>A (p.Gly1212Glu)
c.3608G>A (p.Gly1203Glu)
c.2042G>A (p.Gly681Glu)
n.4026G>A
c.3599G>A (p.Gly1200Glu)
n.4042G>A
2g.227032047C>ACA350837690COL4A4c.3715G>T (p.Gly1239Ter)
c.3160G>T (p.Gly1054Ter)
c.3634G>T (p.Gly1212Ter)
c.3607G>T (p.Gly1203Ter)
c.2041G>T (p.Gly681Ter)
n.4025G>T
c.3598G>T (p.Gly1200Ter)
n.4041G>T
2g.227032047C>GCA350837691COL4A4c.3715G>C (p.Gly1239Arg)
c.3160G>C (p.Gly1054Arg)
c.3634G>C (p.Gly1212Arg)
c.3607G>C (p.Gly1203Arg)
c.2041G>C (p.Gly681Arg)
n.4025G>C
c.3598G>C (p.Gly1200Arg)
n.4041G>C
2g.227032047C>TCA350837692COL4A4c.3715G>A (p.Gly1239Arg)
c.3160G>A (p.Gly1054Arg)
c.3634G>A (p.Gly1212Arg)
c.3607G>A (p.Gly1203Arg)
c.2041G>A (p.Gly681Arg)
n.4025G>A
c.3598G>A (p.Gly1200Arg)
n.4041G>A
2g.227032048T>ACA431663537COL4A4c.3714A>T (p.Ser1238=)
c.3159A>T (p.Ser1053=)
c.3633A>T (p.Ser1211=)
c.3606A>T (p.Ser1202=)
c.2040A>T (p.Ser680=)
n.4024A>T
c.3597A>T (p.Ser1199=)
n.4040A>T
2g.227032048T>CCA431663538COL4A4c.3714A>G (p.Ser1238=)
c.3159A>G (p.Ser1053=)
c.3633A>G (p.Ser1211=)
c.3606A>G (p.Ser1202=)
c.2040A>G (p.Ser680=)
n.4024A>G
c.3597A>G (p.Ser1199=)
n.4040A>G
2g.227032048T>GCA431663540COL4A4c.3714A>C (p.Ser1238=)
c.3159A>C (p.Ser1053=)
c.3633A>C (p.Ser1211=)
c.3606A>C (p.Ser1202=)
c.2040A>C (p.Ser680=)
n.4024A>C
c.3597A>C (p.Ser1199=)
n.4040A>C
2g.227032049G>ACA350837693COL4A4c.3713C>T (p.Ser1238Leu)
c.3158C>T (p.Ser1053Leu)
c.3632C>T (p.Ser1211Leu)
c.3605C>T (p.Ser1202Leu)
c.2039C>T (p.Ser680Leu)
n.4023C>T
c.3596C>T (p.Ser1199Leu)
n.4039C>T
2g.227032049G>CCA350837694COL4A4c.3713C>G (p.Ser1238Ter)
c.3158C>G (p.Ser1053Ter)
c.3632C>G (p.Ser1211Ter)
c.3605C>G (p.Ser1202Ter)
c.2039C>G (p.Ser680Ter)
n.4023C>G
c.3596C>G (p.Ser1199Ter)
n.4039C>G
2g.227032049G=CA1332734759COL4A4c.3713C= (p.Ser1238=)
c.3158C= (p.Ser1053=)
c.3632C= (p.Ser1211=)
c.3605C= (p.Ser1202=)
c.2039C= (p.Ser680=)
n.4023C=
c.3596C= (p.Ser1199=)
n.4039C=
2g.227032049G>TCA257916COL4A4c.3713C>A (p.Ser1238Ter)
c.3158C>A (p.Ser1053Ter)
c.3632C>A (p.Ser1211Ter)
c.3605C>A (p.Ser1202Ter)
c.2039C>A (p.Ser680Ter)
n.4023C>A
c.3596C>A (p.Ser1199Ter)
n.4039C>A
 ClinVar dbSNP
2g.227032050A>CCA350837695COL4A4c.3712T>G (p.Ser1238Ala)
c.3157T>G (p.Ser1053Ala)
c.3631T>G (p.Ser1211Ala)
c.3604T>G (p.Ser1202Ala)
c.2038T>G (p.Ser680Ala)
n.4022T>G
c.3595T>G (p.Ser1199Ala)
n.4038T>G
2g.227032050A>GCA350837696COL4A4c.3712T>C (p.Ser1238Pro)
c.3157T>C (p.Ser1053Pro)
c.3631T>C (p.Ser1211Pro)
c.3604T>C (p.Ser1202Pro)
c.2038T>C (p.Ser680Pro)
n.4022T>C
c.3595T>C (p.Ser1199Pro)
n.4038T>C
2g.227032050A>TCA350837697COL4A4c.3712T>A (p.Ser1238Thr)
c.3157T>A (p.Ser1053Thr)
c.3631T>A (p.Ser1211Thr)
c.3604T>A (p.Ser1202Thr)
c.2038T>A (p.Ser680Thr)
n.4022T>A
c.3595T>A (p.Ser1199Thr)
n.4038T>A
2g.227032051A>CCA350837698COL4A4c.3711T>G (p.Ser1237Arg)
c.3156T>G (p.Ser1052Arg)
c.3630T>G (p.Ser1210Arg)
c.3603T>G (p.Ser1201Arg)
c.2037T>G (p.Ser679Arg)
n.4021T>G
c.3594T>G (p.Ser1198Arg)
n.4037T>G
2g.227032051A>GCA431663544COL4A4c.3711T>C (p.Ser1237=)
c.3156T>C (p.Ser1052=)
c.3630T>C (p.Ser1210=)
c.3603T>C (p.Ser1201=)
c.2037T>C (p.Ser679=)
n.4021T>C
c.3594T>C (p.Ser1198=)
n.4037T>C
2g.227032051A>TCA350837699COL4A4c.3711T>A (p.Ser1237Arg)
c.3156T>A (p.Ser1052Arg)
c.3630T>A (p.Ser1210Arg)
c.3603T>A (p.Ser1201Arg)
c.2037T>A (p.Ser679Arg)
n.4021T>A
c.3594T>A (p.Ser1198Arg)
n.4037T>A
2g.227032052C>ACA350837702COL4A4c.3710G>T (p.Ser1237Ile)
c.3155G>T (p.Ser1052Ile)
c.3629G>T (p.Ser1210Ile)
c.3602G>T (p.Ser1201Ile)
c.2036G>T (p.Ser679Ile)
n.4020G>T
c.3593G>T (p.Ser1198Ile)
n.4036G>T
2g.227032052C>GCA350837701COL4A4c.3710G>C (p.Ser1237Thr)
c.3155G>C (p.Ser1052Thr)
c.3629G>C (p.Ser1210Thr)
c.3602G>C (p.Ser1201Thr)
c.2036G>C (p.Ser679Thr)
n.4020G>C
c.3593G>C (p.Ser1198Thr)
n.4036G>C
2g.227032052C>TCA350837700COL4A4c.3710G>A (p.Ser1237Asn)
c.3155G>A (p.Ser1052Asn)
c.3629G>A (p.Ser1210Asn)
c.3602G>A (p.Ser1201Asn)
c.2036G>A (p.Ser679Asn)
n.4020G>A
c.3593G>A (p.Ser1198Asn)
n.4036G>A
2g.227032053T>ACA350837703COL4A4c.3709A>T (p.Ser1237Cys)
c.3154A>T (p.Ser1052Cys)
c.3628A>T (p.Ser1210Cys)
c.3601A>T (p.Ser1201Cys)
c.2035A>T (p.Ser679Cys)
n.4019A>T
c.3592A>T (p.Ser1198Cys)
n.4035A>T
 gnomAD v4
2g.227032053T>CCA350837704COL4A4c.3709A>G (p.Ser1237Gly)
c.3154A>G (p.Ser1052Gly)
c.3628A>G (p.Ser1210Gly)
c.3601A>G (p.Ser1201Gly)
c.2035A>G (p.Ser679Gly)
n.4019A>G
c.3592A>G (p.Ser1198Gly)
n.4035A>G
2g.227032053T>GCA350837705COL4A4c.3709A>C (p.Ser1237Arg)
c.3154A>C (p.Ser1052Arg)
c.3628A>C (p.Ser1210Arg)
c.3601A>C (p.Ser1201Arg)
c.2035A>C (p.Ser679Arg)
n.4019A>C
c.3592A>C (p.Ser1198Arg)
n.4035A>C
2g.227032054C>ACA431663546COL4A4c.3708G>T (p.Gly1236=)
c.3153G>T (p.Gly1051=)
c.3627G>T (p.Gly1209=)
c.3600G>T (p.Gly1200=)
c.2034G>T (p.Gly678=)
n.4018G>T
c.3591G>T (p.Gly1197=)
n.4034G>T
2g.227032054C>GCA431663547COL4A4c.3708G>C (p.Gly1236=)
c.3153G>C (p.Gly1051=)
c.3627G>C (p.Gly1209=)
c.3600G>C (p.Gly1200=)
c.2034G>C (p.Gly678=)
n.4018G>C
c.3591G>C (p.Gly1197=)
n.4034G>C
2g.227032054C>TCA431663548COL4A4c.3708G>A (p.Gly1236=)
c.3153G>A (p.Gly1051=)
c.3627G>A (p.Gly1209=)
c.3600G>A (p.Gly1200=)
c.2034G>A (p.Gly678=)
n.4018G>A
c.3591G>A (p.Gly1197=)
n.4034G>A
2g.227032055C>ACA350837706COL4A4c.3707G>T (p.Gly1236Val)
c.3152G>T (p.Gly1051Val)
c.3626G>T (p.Gly1209Val)
c.3599G>T (p.Gly1200Val)
c.2033G>T (p.Gly678Val)
n.4017G>T
c.3590G>T (p.Gly1197Val)
n.4033G>T
2g.227032055C>GCA350837707COL4A4c.3707G>C (p.Gly1236Ala)
c.3152G>C (p.Gly1051Ala)
c.3626G>C (p.Gly1209Ala)
c.3599G>C (p.Gly1200Ala)
c.2033G>C (p.Gly678Ala)
n.4017G>C
c.3590G>C (p.Gly1197Ala)
n.4033G>C
2g.227032055C>TCA350837708COL4A4c.3707G>A (p.Gly1236Glu)
c.3152G>A (p.Gly1051Glu)
c.3626G>A (p.Gly1209Glu)
c.3599G>A (p.Gly1200Glu)
c.2033G>A (p.Gly678Glu)
n.4017G>A
c.3590G>A (p.Gly1197Glu)
n.4033G>A
 gnomAD v4
2g.227032056C>ACA350837709COL4A4c.3707-1G>T (n.3707-1G>T)
c.3152-1G>T (n.3152-1G>T)
c.3626-1G>T (n.3626-1G>T)
c.3599-1G>T (n.3599-1G>T)
c.2033-1G>T (n.2033-1G>T)
n.4017-1G>T
c.3590-1G>T (n.3590-1G>T)
n.4033-1G>T
2g.227032056C=CA1332734760COL4A4c.3707-1G= (n.3707-1G=)
c.3152-1G= (n.3152-1G=)
c.3626-1G= (n.3626-1G=)
c.3599-1G= (n.3599-1G=)
c.2033-1G= (n.2033-1G=)
n.4017-1G=
c.3590-1G= (n.3590-1G=)
n.4033-1G=
2g.227032056C>GCA350837710COL4A4c.3707-1G>C (n.3707-1G>C)
c.3152-1G>C (n.3152-1G>C)
c.3626-1G>C (n.3626-1G>C)
c.3599-1G>C (n.3599-1G>C)
c.2033-1G>C (n.2033-1G>C)
n.4017-1G>C
c.3590-1G>C (n.3590-1G>C)
n.4033-1G>C
2g.227032056C>TCA350837711COL4A4c.3707-1G>A (n.3707-1G>A)
c.3152-1G>A (n.3152-1G>A)
c.3626-1G>A (n.3626-1G>A)
c.3599-1G>A (n.3599-1G>A)
c.2033-1G>A (n.2033-1G>A)
n.4017-1G>A
c.3590-1G>A (n.3590-1G>A)
n.4033-1G>A
 dbSNP
2g.227032057T>ACA2144433COL4A4c.3707-2A>T (n.3707-2A>T)
c.3152-2A>T (n.3152-2A>T)
c.3626-2A>T (n.3626-2A>T)
c.3599-2A>T (n.3599-2A>T)
c.2033-2A>T (n.2033-2A>T)
n.4017-2A>T
c.3590-2A>T (n.3590-2A>T)
n.4033-2A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227032057T>CCA350837712COL4A4c.3707-2A>G (n.3707-2A>G)
c.3152-2A>G (n.3152-2A>G)
c.3626-2A>G (n.3626-2A>G)
c.3599-2A>G (n.3599-2A>G)
c.2033-2A>G (n.2033-2A>G)
n.4017-2A>G
c.3590-2A>G (n.3590-2A>G)
n.4033-2A>G
2g.227032057T>GCA350837713COL4A4c.3707-2A>C (n.3707-2A>C)
c.3152-2A>C (n.3152-2A>C)
c.3626-2A>C (n.3626-2A>C)
c.3599-2A>C (n.3599-2A>C)
c.2033-2A>C (n.2033-2A>C)
n.4017-2A>C
c.3590-2A>C (n.3590-2A>C)
n.4033-2A>C
2g.227032057T=CA1332734761COL4A4c.3707-2A= (n.3707-2A=)
c.3152-2A= (n.3152-2A=)
c.3626-2A= (n.3626-2A=)
c.3599-2A= (n.3599-2A=)
c.2033-2A= (n.2033-2A=)
n.4017-2A=
c.3590-2A= (n.3590-2A=)
n.4033-2A=
2g.227032057_227032060delinsTAAGCA1332734762COL4A4c.3707-5_3707-2delinsCTTA (n.3707-5_3707-2delinsCTTA)
c.3152-5_3152-2delinsCTTA (n.3152-5_3152-2delinsCTTA)
c.3626-5_3626-2delinsCTTA (n.3626-5_3626-2delinsCTTA)
c.3599-5_3599-2delinsCTTA (n.3599-5_3599-2delinsCTTA)
c.2033-5_2033-2delinsCTTA (n.2033-5_2033-2delinsCTTA)
n.4017-5_4017-2delinsCTTA
c.3590-5_3590-2delinsCTTA (n.3590-5_3590-2delinsCTTA)
n.4033-5_4033-2delinsCTTA
2g.227032058A>GCA2663406355COL4A4c.3707-3T>C (n.3707-3T>C)
c.3152-3T>C (n.3152-3T>C)
c.3626-3T>C (n.3626-3T>C)
c.3599-3T>C (n.3599-3T>C)
c.2033-3T>C (n.2033-3T>C)
n.4017-3T>C
c.3590-3T>C (n.3590-3T>C)
n.4033-3T>C
 gnomAD v4
2g.227032062_227032064delCA765651572COL4A4c.3707-5_3707-3del (n.3707-5_3707-3del)
c.3152-5_3152-3del (n.3152-5_3152-3del)
c.3626-5_3626-3del (n.3626-5_3626-3del)
c.3599-5_3599-3del (n.3599-5_3599-3del)
c.2033-5_2033-3del (n.2033-5_2033-3del)
n.4017-5_4017-3del
c.3590-5_3590-3del (n.3590-5_3590-3del)
n.4033-5_4033-3del
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched