Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108626254G>ACA413854928COL4A5c.3151G>A (p.Gly1051Arg)
n.2607G>A
c.384G>A
c.2827G>A (p.Gly943Arg)
c.724G>A (p.Gly242Arg)
c.3166G>A (p.Gly1056Arg)
c.1486G>A (p.Gly496Arg)
Xg.108626254G>CCA413854929COL4A5c.3151G>C (p.Gly1051Arg)
n.2607G>C
c.384G>C
c.2827G>C (p.Gly943Arg)
c.724G>C (p.Gly242Arg)
c.3166G>C (p.Gly1056Arg)
c.1486G>C (p.Gly496Arg)
Xg.108626254G=CA2450698074COL4A5c.3151G= (p.Gly1051=)
n.2607G=
c.384G=
c.2827G= (p.Gly943=)
c.724G= (p.Gly242=)
c.3166G= (p.Gly1056=)
c.1486G= (p.Gly496=)
Xg.108626254G>TCA413854930COL4A5c.3151G>T (p.Gly1051Ter)
n.2607G>T
c.384G>T
c.2827G>T (p.Gly943Ter)
c.724G>T (p.Gly242Ter)
c.3166G>T (p.Gly1056Ter)
c.1486G>T (p.Gly496Ter)
 ClinVar dbSNP
Xg.108626255G>ACA413854933COL4A5c.3152G>A (p.Gly1051Glu)
n.2608G>A
c.385G>A
c.2828G>A (p.Gly943Glu)
c.725G>A (p.Gly242Glu)
c.3167G>A (p.Gly1056Glu)
c.1487G>A (p.Gly496Glu)
 ClinVar dbSNP
Xg.108626255G>CCA413854931COL4A5c.3152G>C (p.Gly1051Ala)
n.2608G>C
c.385G>C
c.2828G>C (p.Gly943Ala)
c.725G>C (p.Gly242Ala)
c.3167G>C (p.Gly1056Ala)
c.1487G>C (p.Gly496Ala)
Xg.108626255G=CA2450698075COL4A5c.3152G= (p.Gly1051=)
n.2608G=
c.385G=
c.2828G= (p.Gly943=)
c.725G= (p.Gly242=)
c.3167G= (p.Gly1056=)
c.1487G= (p.Gly496=)
Xg.108626255G>TCA413854932COL4A5c.3152G>T (p.Gly1051Val)
n.2608G>T
c.385G>T
c.2828G>T (p.Gly943Val)
c.725G>T (p.Gly242Val)
c.3167G>T (p.Gly1056Val)
c.1487G>T (p.Gly496Val)
 ClinVar dbSNP
Xg.108626256A>CCA517925793COL4A5c.3153A>C (p.Gly1051=)
n.2609A>C
c.386A>C
c.2829A>C (p.Gly943=)
c.726A>C (p.Gly242=)
c.3168A>C (p.Gly1056=)
c.1488A>C (p.Gly496=)
Xg.108626256A>GCA517925796COL4A5c.3153A>G (p.Gly1051=)
n.2609A>G
c.386A>G
c.2829A>G (p.Gly943=)
c.726A>G (p.Gly242=)
c.3168A>G (p.Gly1056=)
c.1488A>G (p.Gly496=)
Xg.108626256A>TCA517925795COL4A5c.3153A>T (p.Gly1051=)
n.2609A>T
c.386A>T
c.2829A>T (p.Gly943=)
c.726A>T (p.Gly242=)
c.3168A>T (p.Gly1056=)
c.1488A>T (p.Gly496=)
Xg.108626257C>ACA413854934COL4A5c.3154C>A (p.Gln1052Lys)
n.2610C>A
c.387C>A
c.2830C>A (p.Gln944Lys)
c.727C>A (p.Gln243Lys)
c.3169C>A (p.Gln1057Lys)
c.1489C>A (p.Gln497Lys)
Xg.108626257C=CA2450698076COL4A5c.3154C= (p.Gln1052=)
n.2610C=
c.387C=
c.2830C= (p.Gln944=)
c.727C= (p.Gln243=)
c.3169C= (p.Gln1057=)
c.1489C= (p.Gln497=)
Xg.108626257C>GCA413854935COL4A5c.3154C>G (p.Gln1052Glu)
n.2610C>G
c.387C>G
c.2830C>G (p.Gln944Glu)
c.727C>G (p.Gln243Glu)
c.3169C>G (p.Gln1057Glu)
c.1489C>G (p.Gln497Glu)
Xg.108626257C>TCA413854936COL4A5c.3154C>T (p.Gln1052Ter)
n.2610C>T
c.387C>T
c.2830C>T (p.Gln944Ter)
c.727C>T (p.Gln243Ter)
c.3169C>T (p.Gln1057Ter)
c.1489C>T (p.Gln497Ter)
Xg.108626258A=CA2450698077COL4A5c.3155A= (p.Gln1052=)
n.2611A=
c.388A=
c.2831A= (p.Gln944=)
c.728A= (p.Gln243=)
c.3170A= (p.Gln1057=)
c.1490A= (p.Gln497=)
Xg.108626258A>CCA413854937COL4A5c.3155A>C (p.Gln1052Pro)
n.2611A>C
c.388A>C
c.2831A>C (p.Gln944Pro)
c.728A>C (p.Gln243Pro)
c.3170A>C (p.Gln1057Pro)
c.1490A>C (p.Gln497Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108626258A>GCA413854938COL4A5c.3155A>G (p.Gln1052Arg)
n.2611A>G
c.388A>G
c.2831A>G (p.Gln944Arg)
c.728A>G (p.Gln243Arg)
c.3170A>G (p.Gln1057Arg)
c.1490A>G (p.Gln497Arg)
Xg.108626258A>TCA413854939COL4A5c.3155A>T (p.Gln1052Leu)
n.2611A>T
c.388A>T
c.2831A>T (p.Gln944Leu)
c.728A>T (p.Gln243Leu)
c.3170A>T (p.Gln1057Leu)
c.1490A>T (p.Gln497Leu)
Xg.108626259A>CCA413854940COL4A5c.3156A>C (p.Gln1052His)
n.2612A>C
c.389A>C
c.2832A>C (p.Gln944His)
c.729A>C (p.Gln243His)
c.3171A>C (p.Gln1057His)
c.1491A>C (p.Gln497His)
 COSMIC COSMIC
Xg.108626259A>GCA517925810COL4A5c.3156A>G (p.Gln1052=)
n.2612A>G
c.389A>G
c.2832A>G (p.Gln944=)
c.729A>G (p.Gln243=)
c.3171A>G (p.Gln1057=)
c.1491A>G (p.Gln497=)
 ClinVar gnomAD v4
Xg.108626259A>TCA413854941COL4A5c.3156A>T (p.Gln1052His)
n.2612A>T
c.389A>T
c.2832A>T (p.Gln944His)
c.729A>T (p.Gln243His)
c.3171A>T (p.Gln1057His)
c.1491A>T (p.Gln497His)
Xg.108626260C>ACA413854942COL4A5c.3157C>A (p.Pro1053Thr)
n.2613C>A
c.390C>A
c.2833C>A (p.Pro945Thr)
c.730C>A (p.Pro244Thr)
c.3172C>A (p.Pro1058Thr)
c.1492C>A (p.Pro498Thr)
Xg.108626260C=CA2450698078COL4A5c.3157C= (p.Pro1053=)
n.2613C=
c.390C=
c.2833C= (p.Pro945=)
c.730C= (p.Pro244=)
c.3172C= (p.Pro1058=)
c.1492C= (p.Pro498=)
Xg.108626260C>GCA413854943COL4A5c.3157C>G (p.Pro1053Ala)
n.2613C>G
c.390C>G
c.2833C>G (p.Pro945Ala)
c.730C>G (p.Pro244Ala)
c.3172C>G (p.Pro1058Ala)
c.1492C>G (p.Pro498Ala)
Xg.108626260C>TCA413854944COL4A5c.3157C>T (p.Pro1053Ser)
n.2613C>T
c.390C>T
c.2833C>T (p.Pro945Ser)
c.730C>T (p.Pro244Ser)
c.3172C>T (p.Pro1058Ser)
c.1492C>T (p.Pro498Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626261C>ACA413854947COL4A5c.3158C>A (p.Pro1053His)
n.2614C>A
c.391C>A
c.2834C>A (p.Pro945His)
c.731C>A (p.Pro244His)
c.3173C>A (p.Pro1058His)
c.1493C>A (p.Pro498His)
Xg.108626261C>GCA413854946COL4A5c.3158C>G (p.Pro1053Arg)
n.2614C>G
c.391C>G
c.2834C>G (p.Pro945Arg)
c.731C>G (p.Pro244Arg)
c.3173C>G (p.Pro1058Arg)
c.1493C>G (p.Pro498Arg)
Xg.108626261C>TCA413854945COL4A5c.3158C>T (p.Pro1053Leu)
n.2614C>T
c.391C>T
c.2834C>T (p.Pro945Leu)
c.731C>T (p.Pro244Leu)
c.3173C>T (p.Pro1058Leu)
c.1493C>T (p.Pro498Leu)
 gnomAD v4
Xg.108626262T>ACA517925823COL4A5c.3159T>A (p.Pro1053=)
n.2615T>A
c.392T>A
c.2835T>A (p.Pro945=)
c.732T>A (p.Pro244=)
c.3174T>A (p.Pro1058=)
c.1494T>A (p.Pro498=)
Xg.108626262T>CCA517925828COL4A5c.3159T>C (p.Pro1053=)
n.2615T>C
c.392T>C
c.2835T>C (p.Pro945=)
c.732T>C (p.Pro244=)
c.3174T>C (p.Pro1058=)
c.1494T>C (p.Pro498=)
Xg.108626262T>GCA517925825COL4A5c.3159T>G (p.Pro1053=)
n.2615T>G
c.392T>G
c.2835T>G (p.Pro945=)
c.732T>G (p.Pro244=)
c.3174T>G (p.Pro1058=)
c.1494T>G (p.Pro498=)
Xg.108626263G>ACA413854948COL4A5c.3160G>A (p.Gly1054Ser)
n.2616G>A
c.393G>A
c.2836G>A (p.Gly946Ser)
c.733G>A (p.Gly245Ser)
c.3175G>A (p.Gly1059Ser)
c.1495G>A (p.Gly499Ser)
Xg.108626263G>CCA413854949COL4A5c.3160G>C (p.Gly1054Arg)
n.2616G>C
c.393G>C
c.2836G>C (p.Gly946Arg)
c.733G>C (p.Gly245Arg)
c.3175G>C (p.Gly1059Arg)
c.1495G>C (p.Gly499Arg)
Xg.108626263G>TCA413854950COL4A5c.3160G>T (p.Gly1054Cys)
n.2616G>T
c.393G>T
c.2836G>T (p.Gly946Cys)
c.733G>T (p.Gly245Cys)
c.3175G>T (p.Gly1059Cys)
c.1495G>T (p.Gly499Cys)
Xg.108626264G>ACA413854951COL4A5c.3161G>A (p.Gly1054Asp)
n.2617G>A
c.394G>A
c.2837G>A (p.Gly946Asp)
c.734G>A (p.Gly245Asp)
c.3176G>A (p.Gly1059Asp)
c.1496G>A (p.Gly499Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626264G>CCA413854952COL4A5c.3161G>C (p.Gly1054Ala)
n.2617G>C
c.394G>C
c.2837G>C (p.Gly946Ala)
c.734G>C (p.Gly245Ala)
c.3176G>C (p.Gly1059Ala)
c.1496G>C (p.Gly499Ala)
Xg.108626264G=CA2450698079COL4A5c.3161G= (p.Gly1054=)
n.2617G=
c.394G=
c.2837G= (p.Gly946=)
c.734G= (p.Gly245=)
c.3176G= (p.Gly1059=)
c.1496G= (p.Gly499=)
Xg.108626264G>TCA413854953COL4A5c.3161G>T (p.Gly1054Val)
n.2617G>T
c.394G>T
c.2837G>T (p.Gly946Val)
c.734G>T (p.Gly245Val)
c.3176G>T (p.Gly1059Val)
c.1496G>T (p.Gly499Val)
Xg.108626265C>ACA517925832COL4A5c.3162C>A (p.Gly1054=)
n.2618C>A
c.395C>A
c.2838C>A (p.Gly946=)
c.735C>A (p.Gly245=)
c.3177C>A (p.Gly1059=)
c.1497C>A (p.Gly499=)
Xg.108626265C=CA2450698080COL4A5c.3162C= (p.Gly1054=)
n.2618C=
c.395C=
c.2838C= (p.Gly946=)
c.735C= (p.Gly245=)
c.3177C= (p.Gly1059=)
c.1497C= (p.Gly499=)
Xg.108626265C>GCA517925834COL4A5c.3162C>G (p.Gly1054=)
n.2618C>G
c.395C>G
c.2838C>G (p.Gly946=)
c.735C>G (p.Gly245=)
c.3177C>G (p.Gly1059=)
c.1497C>G (p.Gly499=)
 gnomAD v4
Xg.108626265C>TCA517925836COL4A5c.3162C>T (p.Gly1054=)
n.2618C>T
c.395C>T
c.2838C>T (p.Gly946=)
c.735C>T (p.Gly245=)
c.3177C>T (p.Gly1059=)
c.1497C>T (p.Gly499=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108626266T>ACA413854954COL4A5c.3163T>A (p.Ser1055Thr)
n.2619T>A
c.396T>A
c.2839T>A (p.Ser947Thr)
c.736T>A (p.Ser246Thr)
c.3178T>A (p.Ser1060Thr)
c.1498T>A (p.Ser500Thr)
Xg.108626266T>CCA413854955COL4A5c.3163T>C (p.Ser1055Pro)
n.2619T>C
c.396T>C
c.2839T>C (p.Ser947Pro)
c.736T>C (p.Ser246Pro)
c.3178T>C (p.Ser1060Pro)
c.1498T>C (p.Ser500Pro)
Xg.108626266T>GCA413854956COL4A5c.3163T>G (p.Ser1055Ala)
n.2619T>G
c.396T>G
c.2839T>G (p.Ser947Ala)
c.736T>G (p.Ser246Ala)
c.3178T>G (p.Ser1060Ala)
c.1498T>G (p.Ser500Ala)
Xg.108626266_108626267delinsTCCA2450698081COL4A5c.3163_3164delinsTC (p.Ser1055=)
n.2619_2620delinsTC
c.396_397delinsTC
c.2839_2840delinsTC (p.Ser947=)
c.736_737delinsTC (p.Ser246=)
c.3178_3179delinsTC (p.Ser1060=)
c.1498_1499delinsTC (p.Ser500=)
Xg.108626267C>ACA413854957COL4A5c.3164C>A (p.Ser1055Tyr)
n.2620C>A
c.397C>A
c.2840C>A (p.Ser947Tyr)
c.737C>A (p.Ser246Tyr)
c.3179C>A (p.Ser1060Tyr)
c.1499C>A (p.Ser500Tyr)
Xg.108626267C>GCA413854958COL4A5c.3164C>G (p.Ser1055Cys)
n.2620C>G
c.397C>G
c.2840C>G (p.Ser947Cys)
c.737C>G (p.Ser246Cys)
c.3179C>G (p.Ser1060Cys)
c.1499C>G (p.Ser500Cys)
Xg.108626267C>TCA413854959COL4A5c.3164C>T (p.Ser1055Phe)
n.2620C>T
c.397C>T
c.2840C>T (p.Ser947Phe)
c.737C>T (p.Ser246Phe)
c.3179C>T (p.Ser1060Phe)
c.1499C>T (p.Ser500Phe)
 gnomAD v4 COSMIC COSMIC
Xg.108626270delCA258812COL4A5c.3167del (p.Pro1056GlnfsTer?)
n.2623del
c.400del
c.3167del (p.Pro1056GlnfsTer28)
c.2843del (p.Pro948GlnfsTer?)
c.740del (p.Pro247GlnfsTer?)
c.3182del (p.Pro1061GlnfsTer?)
c.1502del (p.Pro501GlnfsTer?)
 dbSNP
Xg.108626268C>ACA517925847COL4A5c.3165C>A (p.Ser1055=)
n.2621C>A
c.398C>A
c.2841C>A (p.Ser947=)
c.738C>A (p.Ser246=)
c.3180C>A (p.Ser1060=)
c.1500C>A (p.Ser500=)
Xg.108626268C>GCA517925848COL4A5c.3165C>G (p.Ser1055=)
n.2621C>G
c.398C>G
c.2841C>G (p.Ser947=)
c.738C>G (p.Ser246=)
c.3180C>G (p.Ser1060=)
c.1500C>G (p.Ser500=)
 gnomAD v4 COSMIC COSMIC
Xg.108626268C>TCA517925850COL4A5c.3165C>T (p.Ser1055=)
n.2621C>T
c.398C>T
c.2841C>T (p.Ser947=)
c.738C>T (p.Ser246=)
c.3180C>T (p.Ser1060=)
c.1500C>T (p.Ser500=)
 COSMIC
Xg.108626269C>ACA413854962COL4A5c.3166C>A (p.Pro1056Thr)
n.2622C>A
c.399C>A
c.2842C>A (p.Pro948Thr)
c.739C>A (p.Pro247Thr)
c.3181C>A (p.Pro1061Thr)
c.1501C>A (p.Pro501Thr)
Xg.108626269C>GCA413854961COL4A5c.3166C>G (p.Pro1056Ala)
n.2622C>G
c.399C>G
c.2842C>G (p.Pro948Ala)
c.739C>G (p.Pro247Ala)
c.3181C>G (p.Pro1061Ala)
c.1501C>G (p.Pro501Ala)
Xg.108626269C>TCA413854960COL4A5c.3166C>T (p.Pro1056Ser)
n.2622C>T
c.399C>T
c.2842C>T (p.Pro948Ser)
c.739C>T (p.Pro247Ser)
c.3181C>T (p.Pro1061Ser)
c.1501C>T (p.Pro501Ser)
 dbSNP gnomAD v4
Xg.108626270C>ACA413854963COL4A5c.3167C>A (p.Pro1056Gln)
n.2623C>A
c.400C>A
c.2843C>A (p.Pro948Gln)
c.740C>A (p.Pro247Gln)
c.3182C>A (p.Pro1061Gln)
c.1502C>A (p.Pro501Gln)
Xg.108626270C>GCA413854964COL4A5c.3167C>G (p.Pro1056Arg)
n.2623C>G
c.400C>G
c.2843C>G (p.Pro948Arg)
c.740C>G (p.Pro247Arg)
c.3182C>G (p.Pro1061Arg)
c.1502C>G (p.Pro501Arg)
Xg.108626270C>TCA413854965COL4A5c.3167C>T (p.Pro1056Leu)
n.2623C>T
c.400C>T
c.2843C>T (p.Pro948Leu)
c.740C>T (p.Pro247Leu)
c.3182C>T (p.Pro1061Leu)
c.1502C>T (p.Pro501Leu)
 gnomAD v4
Xg.108626271A>CCA517925855COL4A5c.3168A>C (p.Pro1056=)
n.2624A>C
c.401A>C
c.2844A>C (p.Pro948=)
c.741A>C (p.Pro247=)
c.3183A>C (p.Pro1061=)
c.1503A>C (p.Pro501=)
Xg.108626271A>GCA517925857COL4A5c.3168A>G (p.Pro1056=)
n.2624A>G
c.401A>G
c.2844A>G (p.Pro948=)
c.741A>G (p.Pro247=)
c.3183A>G (p.Pro1061=)
c.1503A>G (p.Pro501=)
Xg.108626271A>TCA517925856COL4A5c.3168A>T (p.Pro1056=)
n.2624A>T
c.401A>T
c.2844A>T (p.Pro948=)
c.741A>T (p.Pro247=)
c.3183A>T (p.Pro1061=)
c.1503A>T (p.Pro501=)
Xg.108626274_108626291dupCA2695235759COL4A5c.3171_3188dup (p.Gly1063_Asp1064insLeuProGlyGlnLysGly)
n.2627_2644dup
c.404_421dup
c.2847_2864dup (p.Gly955_Asp956insLeuProGlyGlnLysGly)
c.744_761dup (p.Gly254_Asp255insLeuProGlyGlnLysGly)
c.3186_3203dup (p.Gly1068_Asp1069insLeuProGlyGlnLysGly)
c.1506_1523dup (p.Gly508_Asp509insLeuProGlyGlnLysGly)
Xg.108626272G>ACA413854966COL4A5c.3169G>A (p.Gly1057Arg)
n.2625G>A
c.402G>A
c.2845G>A (p.Gly949Arg)
c.742G>A (p.Gly248Arg)
c.3184G>A (p.Gly1062Arg)
c.1504G>A (p.Gly502Arg)
 COSMIC COSMIC
Xg.108626272G>CCA413854967COL4A5c.3169G>C (p.Gly1057Arg)
n.2625G>C
c.402G>C
c.2845G>C (p.Gly949Arg)
c.742G>C (p.Gly248Arg)
c.3184G>C (p.Gly1062Arg)
c.1504G>C (p.Gly502Arg)
 ClinVar
Xg.108626272G=CA2450698082COL4A5c.3169G= (p.Gly1057=)
n.2625G=
c.402G=
c.2845G= (p.Gly949=)
c.742G= (p.Gly248=)
c.3184G= (p.Gly1062=)
c.1504G= (p.Gly502=)
Xg.108626272G>TCA258813COL4A5c.3169G>T (p.Gly1057Ter)
n.2625G>T
c.402G>T
c.2845G>T (p.Gly949Ter)
c.742G>T (p.Gly248Ter)
c.3184G>T (p.Gly1062Ter)
c.1504G>T (p.Gly502Ter)
 dbSNP
Xg.108626273G>ACA413854968COL4A5c.3170G>A (p.Gly1057Glu)
n.2626G>A
c.403G>A
c.2846G>A (p.Gly949Glu)
c.743G>A (p.Gly248Glu)
c.3185G>A (p.Gly1062Glu)
c.1505G>A (p.Gly502Glu)
 ClinVar
Xg.108626273G>CCA413854969COL4A5c.3170G>C (p.Gly1057Ala)
n.2626G>C
c.403G>C
c.2846G>C (p.Gly949Ala)
c.743G>C (p.Gly248Ala)
c.3185G>C (p.Gly1062Ala)
c.1505G>C (p.Gly502Ala)
Xg.108626273G=CA2450698083COL4A5c.3170G= (p.Gly1057=)
n.2626G=
c.403G=
c.2846G= (p.Gly949=)
c.743G= (p.Gly248=)
c.3185G= (p.Gly1062=)
c.1505G= (p.Gly502=)
Xg.108626273G>TCA413854970COL4A5c.3170G>T (p.Gly1057Val)
n.2626G>T
c.403G>T
c.2846G>T (p.Gly949Val)
c.743G>T (p.Gly248Val)
c.3185G>T (p.Gly1062Val)
c.1505G>T (p.Gly502Val)
 ClinVar dbSNP
Xg.108626274A>CCA517925870COL4A5c.3171A>C (p.Gly1057=)
n.2627A>C
c.404A>C
c.2847A>C (p.Gly949=)
c.744A>C (p.Gly248=)
c.3186A>C (p.Gly1062=)
c.1506A>C (p.Gly502=)
Xg.108626274A>GCA517925872COL4A5c.3171A>G (p.Gly1057=)
n.2627A>G
c.404A>G
c.2847A>G (p.Gly949=)
c.744A>G (p.Gly248=)
c.3186A>G (p.Gly1062=)
c.1506A>G (p.Gly502=)
Xg.108626274A>TCA517925876COL4A5c.3171A>T (p.Gly1057=)
n.2627A>T
c.404A>T
c.2847A>T (p.Gly949=)
c.744A>T (p.Gly248=)
c.3186A>T (p.Gly1062=)
c.1506A>T (p.Gly502=)
 ClinVar
Xg.108626275T>ACA10489040COL4A5c.3172T>A (p.Leu1058Ile)
n.2628T>A
c.405T>A
c.2848T>A (p.Leu950Ile)
c.745T>A (p.Leu249Ile)
c.3187T>A (p.Leu1063Ile)
c.1507T>A (p.Leu503Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108626275T>CCA517925878COL4A5c.3172T>C (p.Leu1058=)
n.2628T>C
c.405T>C
c.2848T>C (p.Leu950=)
c.745T>C (p.Leu249=)
c.3187T>C (p.Leu1063=)
c.1507T>C (p.Leu503=)
Xg.108626275T>GCA413854971COL4A5c.3172T>G (p.Leu1058Val)
n.2628T>G
c.405T>G
c.2848T>G (p.Leu950Val)
c.745T>G (p.Leu249Val)
c.3187T>G (p.Leu1063Val)
c.1507T>G (p.Leu503Val)
Xg.108626275T=CA2450698084COL4A5c.3172T= (p.Leu1058=)
n.2628T=
c.405T=
c.2848T= (p.Leu950=)
c.745T= (p.Leu249=)
c.3187T= (p.Leu1063=)
c.1507T= (p.Leu503=)
Xg.108626276T>ACA413854974COL4A5c.3173T>A (p.Leu1058Ter)
n.2629T>A
c.406T>A
c.2849T>A (p.Leu950Ter)
c.746T>A (p.Leu249Ter)
c.3188T>A (p.Leu1063Ter)
c.1508T>A (p.Leu503Ter)
Xg.108626276T>CCA413854973COL4A5c.3173T>C (p.Leu1058Ser)
n.2629T>C
c.406T>C
c.2849T>C (p.Leu950Ser)
c.746T>C (p.Leu249Ser)
c.3188T>C (p.Leu1063Ser)
c.1508T>C (p.Leu503Ser)
Xg.108626276T>GCA413854972COL4A5c.3173T>G (p.Leu1058Ter)
n.2629T>G
c.406T>G
c.2849T>G (p.Leu950Ter)
c.746T>G (p.Leu249Ter)
c.3188T>G (p.Leu1063Ter)
c.1508T>G (p.Leu503Ter)
Xg.108626277A>CCA413854975COL4A5c.3174A>C (p.Leu1058Phe)
n.2630A>C
c.407A>C
c.2850A>C (p.Leu950Phe)
c.747A>C (p.Leu249Phe)
c.3189A>C (p.Leu1063Phe)
c.1509A>C (p.Leu503Phe)
Xg.108626277A>GCA517925885COL4A5c.3174A>G (p.Leu1058=)
n.2630A>G
c.407A>G
c.2850A>G (p.Leu950=)
c.747A>G (p.Leu249=)
c.3189A>G (p.Leu1063=)
c.1509A>G (p.Leu503=)
Xg.108626277A>TCA413854976COL4A5c.3174A>T (p.Leu1058Phe)
n.2630A>T
c.407A>T
c.2850A>T (p.Leu950Phe)
c.747A>T (p.Leu249Phe)
c.3189A>T (p.Leu1063Phe)
c.1509A>T (p.Leu503Phe)
Xg.108626278C>ACA413854977COL4A5c.3175C>A (p.Pro1059Thr)
n.2631C>A
c.408C>A
c.2851C>A (p.Pro951Thr)
c.748C>A (p.Pro250Thr)
c.3190C>A (p.Pro1064Thr)
c.1510C>A (p.Pro504Thr)
 gnomAD v4
Xg.108626278C>GCA413854979COL4A5c.3175C>G (p.Pro1059Ala)
n.2631C>G
c.408C>G
c.2851C>G (p.Pro951Ala)
c.748C>G (p.Pro250Ala)
c.3190C>G (p.Pro1064Ala)
c.1510C>G (p.Pro504Ala)
Xg.108626278C>TCA413854978COL4A5c.3175C>T (p.Pro1059Ser)
n.2631C>T
c.408C>T
c.2851C>T (p.Pro951Ser)
c.748C>T (p.Pro250Ser)
c.3190C>T (p.Pro1064Ser)
c.1510C>T (p.Pro504Ser)
 gnomAD v4
Xg.108626279C>ACA413854980COL4A5c.3176C>A (p.Pro1059His)
n.2632C>A
c.409C>A
c.2852C>A (p.Pro951His)
c.749C>A (p.Pro250His)
c.3191C>A (p.Pro1064His)
c.1511C>A (p.Pro504His)
Xg.108626279C=CA2450698085COL4A5c.3176C= (p.Pro1059=)
n.2632C=
c.409C=
c.2852C= (p.Pro951=)
c.749C= (p.Pro250=)
c.3191C= (p.Pro1064=)
c.1511C= (p.Pro504=)
Xg.108626279C>GCA413854981COL4A5c.3176C>G (p.Pro1059Arg)
n.2632C>G
c.409C>G
c.2852C>G (p.Pro951Arg)
c.749C>G (p.Pro250Arg)
c.3191C>G (p.Pro1064Arg)
c.1511C>G (p.Pro504Arg)
Xg.108626279C>TCA413854982COL4A5c.3176C>T (p.Pro1059Leu)
n.2632C>T
c.409C>T
c.2852C>T (p.Pro951Leu)
c.749C>T (p.Pro250Leu)
c.3191C>T (p.Pro1064Leu)
c.1511C>T (p.Pro504Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108626279_108626280delinsCTCA2450698086COL4A5c.3176_3177delinsCT (p.Pro1059=)
n.2632_2633delinsCT
c.409_410delinsCT
c.2852_2853delinsCT (p.Pro951=)
c.749_750delinsCT (p.Pro250=)
c.3191_3192delinsCT (p.Pro1064=)
c.1511_1512delinsCT (p.Pro504=)
Xg.108626280delCA913190614COL4A5c.3177del (p.Gly1060AspfsTer?)
n.2633del
c.410del
c.3177del (p.Gly1060AspfsTer24)
c.2853del (p.Gly952AspfsTer?)
c.750del (p.Gly251AspfsTer?)
c.3192del (p.Gly1065AspfsTer?)
c.1512del (p.Gly505AspfsTer?)
 ClinVar dbSNP
Xg.108626280T>ACA517925897COL4A5c.3177T>A (p.Pro1059=)
n.2633T>A
c.410T>A
c.2853T>A (p.Pro951=)
c.750T>A (p.Pro250=)
c.3192T>A (p.Pro1064=)
c.1512T>A (p.Pro504=)
Xg.108626280T>CCA517925900COL4A5c.3177T>C (p.Pro1059=)
n.2633T>C
c.410T>C
c.2853T>C (p.Pro951=)
c.750T>C (p.Pro250=)
c.3192T>C (p.Pro1064=)
c.1512T>C (p.Pro504=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626280T>GCA517925901COL4A5c.3177T>G (p.Pro1059=)
n.2633T>G
c.410T>G
c.2853T>G (p.Pro951=)
c.750T>G (p.Pro250=)
c.3192T>G (p.Pro1064=)
c.1512T>G (p.Pro504=)
Xg.108626280T=CA2450698087COL4A5c.3177T= (p.Pro1059=)
n.2633T=
c.410T=
c.2853T= (p.Pro951=)
c.750T= (p.Pro250=)
c.3192T= (p.Pro1064=)
c.1512T= (p.Pro504=)
Xg.108626281G>ACA413854983COL4A5c.3178G>A (p.Gly1060Arg)
n.2634G>A
c.411G>A
c.2854G>A (p.Gly952Arg)
c.751G>A (p.Gly251Arg)
c.3193G>A (p.Gly1065Arg)
c.1513G>A (p.Gly505Arg)
Xg.108626281G>CCA413854984COL4A5c.3178G>C (p.Gly1060Arg)
n.2634G>C
c.411G>C
c.2854G>C (p.Gly952Arg)
c.751G>C (p.Gly251Arg)
c.3193G>C (p.Gly1065Arg)
c.1513G>C (p.Gly505Arg)
Xg.108626281G=CA2450698088COL4A5c.3178G= (p.Gly1060=)
n.2634G=
c.411G=
c.2854G= (p.Gly952=)
c.751G= (p.Gly251=)
c.3193G= (p.Gly1065=)
c.1513G= (p.Gly505=)
Xg.108626281G>TCA258816COL4A5c.3178G>T (p.Gly1060Ter)
n.2634G>T
c.411G>T
c.2854G>T (p.Gly952Ter)
c.751G>T (p.Gly251Ter)
c.3193G>T (p.Gly1065Ter)
c.1513G>T (p.Gly505Ter)
 ClinVar dbSNP
Xg.108626282delCA2580100148COL4A5c.3179del (p.Gly1060AspfsTer?)
n.2635del
c.412del
c.3179del (p.Gly1060AspfsTer24)
c.2855del (p.Gly952AspfsTer?)
c.752del (p.Gly251AspfsTer?)
c.3194del (p.Gly1065AspfsTer?)
c.1514del (p.Gly505AspfsTer?)
 ClinVar
Xg.108626282G>ACA413854985COL4A5c.3179G>A (p.Gly1060Glu)
n.2635G>A
c.412G>A
c.2855G>A (p.Gly952Glu)
c.752G>A (p.Gly251Glu)
c.3194G>A (p.Gly1065Glu)
c.1514G>A (p.Gly505Glu)
Xg.108626282G>CCA413854986COL4A5c.3179G>C (p.Gly1060Ala)
n.2635G>C
c.412G>C
c.2855G>C (p.Gly952Ala)
c.752G>C (p.Gly251Ala)
c.3194G>C (p.Gly1065Ala)
c.1514G>C (p.Gly505Ala)
Xg.108626282G>TCA413854987COL4A5c.3179G>T (p.Gly1060Val)
n.2635G>T
c.412G>T
c.2855G>T (p.Gly952Val)
c.752G>T (p.Gly251Val)
c.3194G>T (p.Gly1065Val)
c.1514G>T (p.Gly505Val)
Xg.108626283A>CCA517925909COL4A5c.3180A>C (p.Gly1060=)
n.2636A>C
c.413A>C
c.2856A>C (p.Gly952=)
c.753A>C (p.Gly251=)
c.3195A>C (p.Gly1065=)
c.1515A>C (p.Gly505=)
Xg.108626283A>GCA517925915COL4A5c.3180A>G (p.Gly1060=)
n.2636A>G
c.413A>G
c.2856A>G (p.Gly952=)
c.753A>G (p.Gly251=)
c.3195A>G (p.Gly1065=)
c.1515A>G (p.Gly505=)
Xg.108626283A>TCA517925919COL4A5c.3180A>T (p.Gly1060=)
n.2636A>T
c.413A>T
c.2856A>T (p.Gly952=)
c.753A>T (p.Gly251=)
c.3195A>T (p.Gly1065=)
c.1515A>T (p.Gly505=)
Xg.108626284C>ACA413854988COL4A5c.3181C>A (p.Gln1061Lys)
n.2637C>A
c.414C>A
c.2857C>A (p.Gln953Lys)
c.754C>A (p.Gln252Lys)
c.3196C>A (p.Gln1066Lys)
c.1516C>A (p.Gln506Lys)
Xg.108626284C=CA2450698089COL4A5c.3181C= (p.Gln1061=)
n.2637C=
c.414C=
c.2857C= (p.Gln953=)
c.754C= (p.Gln252=)
c.3196C= (p.Gln1066=)
c.1516C= (p.Gln506=)
Xg.108626284C>GCA413854989COL4A5c.3181C>G (p.Gln1061Glu)
n.2637C>G
c.414C>G
c.2857C>G (p.Gln953Glu)
c.754C>G (p.Gln252Glu)
c.3196C>G (p.Gln1066Glu)
c.1516C>G (p.Gln506Glu)
 gnomAD v4
Xg.108626284C>TCA258819COL4A5c.3181C>T (p.Gln1061Ter)
n.2637C>T
c.414C>T
c.2857C>T (p.Gln953Ter)
c.754C>T (p.Gln252Ter)
c.3196C>T (p.Gln1066Ter)
c.1516C>T (p.Gln506Ter)
 ClinVar dbSNP
Xg.108626285A=CA2450698090COL4A5c.3182A= (p.Gln1061=)
n.2638A=
c.415A=
c.2858A= (p.Gln953=)
c.755A= (p.Gln252=)
c.3197A= (p.Gln1066=)
c.1517A= (p.Gln506=)
Xg.108626285A>CCA413854990COL4A5c.3182A>C (p.Gln1061Pro)
n.2638A>C
c.415A>C
c.2858A>C (p.Gln953Pro)
c.755A>C (p.Gln252Pro)
c.3197A>C (p.Gln1066Pro)
c.1517A>C (p.Gln506Pro)
Xg.108626285A>GCA413854992COL4A5c.3182A>G (p.Gln1061Arg)
n.2638A>G
c.415A>G
c.2858A>G (p.Gln953Arg)
c.755A>G (p.Gln252Arg)
c.3197A>G (p.Gln1066Arg)
c.1517A>G (p.Gln506Arg)
 dbSNP gnomAD v4
Xg.108626285A>TCA413854991COL4A5c.3182A>T (p.Gln1061Leu)
n.2638A>T
c.415A>T
c.2858A>T (p.Gln953Leu)
c.755A>T (p.Gln252Leu)
c.3197A>T (p.Gln1066Leu)
c.1517A>T (p.Gln506Leu)
Xg.108626286G>ACA517925926COL4A5c.3183G>A (p.Gln1061=)
n.2639G>A
c.416G>A
c.2859G>A (p.Gln953=)
c.756G>A (p.Gln252=)
c.3198G>A (p.Gln1066=)
c.1518G>A (p.Gln506=)
 dbSNP gnomAD v4
Xg.108626286G>CCA413854993COL4A5c.3183G>C (p.Gln1061His)
n.2639G>C
c.416G>C
c.2859G>C (p.Gln953His)
c.756G>C (p.Gln252His)
c.3198G>C (p.Gln1066His)
c.1518G>C (p.Gln506His)
Xg.108626286G=CA2450698091COL4A5c.3183G= (p.Gln1061=)
n.2639G=
c.416G=
c.2859G= (p.Gln953=)
c.756G= (p.Gln252=)
c.3198G= (p.Gln1066=)
c.1518G= (p.Gln506=)
Xg.108626286G>TCA413854994COL4A5c.3183G>T (p.Gln1061His)
n.2639G>T
c.416G>T
c.2859G>T (p.Gln953His)
c.756G>T (p.Gln252His)
c.3198G>T (p.Gln1066His)
c.1518G>T (p.Gln506His)
Xg.108626287A>CCA413854995COL4A5c.3184A>C (p.Lys1062Gln)
n.2640A>C
c.417A>C
c.2860A>C (p.Lys954Gln)
c.757A>C (p.Lys253Gln)
c.3199A>C (p.Lys1067Gln)
c.1519A>C (p.Lys507Gln)
Xg.108626287A>GCA413854996COL4A5c.3184A>G (p.Lys1062Glu)
n.2640A>G
c.417A>G
c.2860A>G (p.Lys954Glu)
c.757A>G (p.Lys253Glu)
c.3199A>G (p.Lys1067Glu)
c.1519A>G (p.Lys507Glu)
Xg.108626287A>TCA413854997COL4A5c.3184A>T (p.Lys1062Ter)
n.2640A>T
c.417A>T
c.2860A>T (p.Lys954Ter)
c.757A>T (p.Lys253Ter)
c.3199A>T (p.Lys1067Ter)
c.1519A>T (p.Lys507Ter)
Xg.108626294_108626295insACAAGGTCAAAAAGGCGACA2741783363COL4A5c.3191_3192insACAAGGTCAAAAAGGCGA (p.Gly1063_Asp1064insGluGlnGlyGlnLysGly)
n.2647_2648insACAAGGTCAAAAAGGCGA
c.424_425insACAAGGTCAAAAAGGCGA
c.2867_2868insACAAGGTCAAAAAGGCGA (p.Gly955_Asp956insGluGlnGlyGlnLysGly)
c.764_765insACAAGGTCAAAAAGGCGA (p.Gly254_Asp255insGluGlnGlyGlnLysGly)
c.3206_3207insACAAGGTCAAAAAGGCGA (p.Gly1068_Asp1069insGluGlnGlyGlnLysGly)
c.1526_1527insACAAGGTCAAAAAGGCGA (p.Gly508_Asp509insGluGlnGlyGlnLysGly)
Xg.108626288A=CA2450698092COL4A5c.3185A= (p.Lys1062=)
n.2641A=
c.418A=
c.2861A= (p.Lys954=)
c.758A= (p.Lys253=)
c.3200A= (p.Lys1067=)
c.1520A= (p.Lys507=)
Xg.108626288A>CCA413854998COL4A5c.3185A>C (p.Lys1062Thr)
n.2641A>C
c.418A>C
c.2861A>C (p.Lys954Thr)
c.758A>C (p.Lys253Thr)
c.3200A>C (p.Lys1067Thr)
c.1520A>C (p.Lys507Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.108626288A>GCA413854999COL4A5c.3185A>G (p.Lys1062Arg)
n.2641A>G
c.418A>G
c.2861A>G (p.Lys954Arg)
c.758A>G (p.Lys253Arg)
c.3200A>G (p.Lys1067Arg)
c.1520A>G (p.Lys507Arg)
Xg.108626288A>TCA413855000COL4A5c.3185A>T (p.Lys1062Ile)
n.2641A>T
c.418A>T
c.2861A>T (p.Lys954Ile)
c.758A>T (p.Lys253Ile)
c.3200A>T (p.Lys1067Ile)
c.1520A>T (p.Lys507Ile)
 COSMIC COSMIC
Xg.108626289A>CCA413855001COL4A5c.3186A>C (p.Lys1062Asn)
n.2642A>C
c.419A>C
c.2862A>C (p.Lys954Asn)
c.759A>C (p.Lys253Asn)
c.3201A>C (p.Lys1067Asn)
c.1521A>C (p.Lys507Asn)
Xg.108626289A>GCA517925937COL4A5c.3186A>G (p.Lys1062=)
n.2642A>G
c.419A>G
c.2862A>G (p.Lys954=)
c.759A>G (p.Lys253=)
c.3201A>G (p.Lys1067=)
c.1521A>G (p.Lys507=)
Xg.108626289A>TCA413855002COL4A5c.3186A>T (p.Lys1062Asn)
n.2642A>T
c.419A>T
c.2862A>T (p.Lys954Asn)
c.759A>T (p.Lys253Asn)
c.3201A>T (p.Lys1067Asn)
c.1521A>T (p.Lys507Asn)
Xg.108626290G>ACA413855005COL4A5c.3187G>A (p.Gly1063Ser)
n.2643G>A
c.420G>A
c.2863G>A (p.Gly955Ser)
c.760G>A (p.Gly254Ser)
c.3202G>A (p.Gly1068Ser)
c.1522G>A (p.Gly508Ser)
Xg.108626290G>CCA413855004COL4A5c.3187G>C (p.Gly1063Arg)
n.2643G>C
c.420G>C
c.2863G>C (p.Gly955Arg)
c.760G>C (p.Gly254Arg)
c.3202G>C (p.Gly1068Arg)
c.1522G>C (p.Gly508Arg)
Xg.108626290G>TCA413855003COL4A5c.3187G>T (p.Gly1063Cys)
n.2643G>T
c.420G>T
c.2863G>T (p.Gly955Cys)
c.760G>T (p.Gly254Cys)
c.3202G>T (p.Gly1068Cys)
c.1522G>T (p.Gly508Cys)
Xg.108626291G>ACA413855007COL4A5c.3188G>A (p.Gly1063Asp)
n.2644G>A
c.421G>A
c.2864G>A (p.Gly955Asp)
c.761G>A (p.Gly254Asp)
c.3203G>A (p.Gly1068Asp)
c.1523G>A (p.Gly508Asp)
Xg.108626291G>CCA413855006COL4A5c.3188G>C (p.Gly1063Ala)
n.2644G>C
c.421G>C
c.2864G>C (p.Gly955Ala)
c.761G>C (p.Gly254Ala)
c.3203G>C (p.Gly1068Ala)
c.1523G>C (p.Gly508Ala)
Xg.108626291G=CA2450698093COL4A5c.3188G= (p.Gly1063=)
n.2644G=
c.421G=
c.2864G= (p.Gly955=)
c.761G= (p.Gly254=)
c.3203G= (p.Gly1068=)
c.1523G= (p.Gly508=)
Xg.108626291G>TCA258822COL4A5c.3188G>T (p.Gly1063Val)
n.2644G>T
c.421G>T
c.2864G>T (p.Gly955Val)
c.761G>T (p.Gly254Val)
c.3203G>T (p.Gly1068Val)
c.1523G>T (p.Gly508Val)
 dbSNP
Xg.108626292C>ACA517925946COL4A5c.3189C>A (p.Gly1063=)
n.2645C>A
c.422C>A
c.2865C>A (p.Gly955=)
c.762C>A (p.Gly254=)
c.3204C>A (p.Gly1068=)
c.1524C>A (p.Gly508=)
 ClinVar dbSNP gnomAD v4
Xg.108626292C=CA2450698094COL4A5c.3189C= (p.Gly1063=)
n.2645C=
c.422C=
c.2865C= (p.Gly955=)
c.762C= (p.Gly254=)
c.3204C= (p.Gly1068=)
c.1524C= (p.Gly508=)
Xg.108626292C>GCA517925945COL4A5c.3189C>G (p.Gly1063=)
n.2645C>G
c.422C>G
c.2865C>G (p.Gly955=)
c.762C>G (p.Gly254=)
c.3204C>G (p.Gly1068=)
c.1524C>G (p.Gly508=)
 ClinVar dbSNP
Xg.108626292C>TCA10489041COL4A5c.3189C>T (p.Gly1063=)
n.2645C>T
c.422C>T
c.2865C>T (p.Gly955=)
c.762C>T (p.Gly254=)
c.3204C>T (p.Gly1068=)
c.1524C>T (p.Gly508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108626293G>ACA10489042COL4A5c.3190G>A (p.Asp1064Asn)
n.2646G>A
c.423G>A
c.2866G>A (p.Asp956Asn)
c.763G>A (p.Asp255Asn)
c.3205G>A (p.Asp1069Asn)
c.1525G>A (p.Asp509Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108626293G>CCA413855008COL4A5c.3190G>C (p.Asp1064His)
n.2646G>C
c.423G>C
c.2866G>C (p.Asp956His)
c.763G>C (p.Asp255His)
c.3205G>C (p.Asp1069His)
c.1525G>C (p.Asp509His)
Xg.108626293G=CA2450698095COL4A5c.3190G= (p.Asp1064=)
n.2646G=
c.423G=
c.2866G= (p.Asp956=)
c.763G= (p.Asp255=)
c.3205G= (p.Asp1069=)
c.1525G= (p.Asp509=)
Xg.108626293G>TCA413855009COL4A5c.3190G>T (p.Asp1064Tyr)
n.2646G>T
c.423G>T
c.2866G>T (p.Asp956Tyr)
c.763G>T (p.Asp255Tyr)
c.3205G>T (p.Asp1069Tyr)
c.1525G>T (p.Asp509Tyr)
Xg.108626294A>CCA413855012COL4A5c.3191A>C (p.Asp1064Ala)
n.2647A>C
c.424A>C
c.2867A>C (p.Asp956Ala)
c.764A>C (p.Asp255Ala)
c.3206A>C (p.Asp1069Ala)
c.1526A>C (p.Asp509Ala)
Xg.108626294A>GCA413855010COL4A5c.3191A>G (p.Asp1064Gly)
n.2647A>G
c.424A>G
c.2867A>G (p.Asp956Gly)
c.764A>G (p.Asp255Gly)
c.3206A>G (p.Asp1069Gly)
c.1526A>G (p.Asp509Gly)
Xg.108626294A>TCA413855011COL4A5c.3191A>T (p.Asp1064Val)
n.2647A>T
c.424A>T
c.2867A>T (p.Asp956Val)
c.764A>T (p.Asp255Val)
c.3206A>T (p.Asp1069Val)
c.1526A>T (p.Asp509Val)
Xg.108626295C>ACA413855013COL4A5c.3192C>A (p.Asp1064Glu)
n.2648C>A
c.425C>A
c.2868C>A (p.Asp956Glu)
c.765C>A (p.Asp255Glu)
c.3207C>A (p.Asp1069Glu)
c.1527C>A (p.Asp509Glu)
Xg.108626295C>GCA413855014COL4A5c.3192C>G (p.Asp1064Glu)
n.2648C>G
c.425C>G
c.2868C>G (p.Asp956Glu)
c.765C>G (p.Asp255Glu)
c.3207C>G (p.Asp1069Glu)
c.1527C>G (p.Asp509Glu)
Xg.108626295C>TCA517925956COL4A5c.3192C>T (p.Asp1064=)
n.2648C>T
c.425C>T
c.2868C>T (p.Asp956=)
c.765C>T (p.Asp255=)
c.3207C>T (p.Asp1069=)
c.1527C>T (p.Asp509=)
 gnomAD v4
Xg.108626296A>CCA413855015COL4A5c.3193A>C (p.Lys1065Gln)
n.2649A>C
c.426A>C
c.2869A>C (p.Lys957Gln)
c.766A>C (p.Lys256Gln)
c.3208A>C (p.Lys1070Gln)
c.1528A>C (p.Lys510Gln)
Xg.108626296A>GCA413855016COL4A5c.3193A>G (p.Lys1065Glu)
n.2649A>G
c.426A>G
c.2869A>G (p.Lys957Glu)
c.766A>G (p.Lys256Glu)
c.3208A>G (p.Lys1070Glu)
c.1528A>G (p.Lys510Glu)
Xg.108626296A>TCA413855017COL4A5c.3193A>T (p.Lys1065Ter)
n.2649A>T
c.426A>T
c.2869A>T (p.Lys957Ter)
c.766A>T (p.Lys256Ter)
c.3208A>T (p.Lys1070Ter)
c.1528A>T (p.Lys510Ter)
Xg.108626297A>CCA413855018COL4A5c.3194A>C (p.Lys1065Thr)
n.2650A>C
c.427A>C
c.2870A>C (p.Lys957Thr)
c.767A>C (p.Lys256Thr)
c.3209A>C (p.Lys1070Thr)
c.1529A>C (p.Lys510Thr)
Xg.108626297A>GCA413855020COL4A5c.3194A>G (p.Lys1065Arg)
n.2650A>G
c.427A>G
c.2870A>G (p.Lys957Arg)
c.767A>G (p.Lys256Arg)
c.3209A>G (p.Lys1070Arg)
c.1529A>G (p.Lys510Arg)
 ClinVar
Xg.108626297A>TCA413855019COL4A5c.3194A>T (p.Lys1065Ile)
n.2650A>T
c.427A>T
c.2870A>T (p.Lys957Ile)
c.767A>T (p.Lys256Ile)
c.3209A>T (p.Lys1070Ile)
c.1529A>T (p.Lys510Ile)
Xg.108626298A>CCA413855021COL4A5c.3195A>C (p.Lys1065Asn)
n.2651A>C
c.428A>C
c.2871A>C (p.Lys957Asn)
c.768A>C (p.Lys256Asn)
c.3210A>C (p.Lys1070Asn)
c.1530A>C (p.Lys510Asn)
Xg.108626298A>GCA517925970COL4A5c.3195A>G (p.Lys1065=)
n.2651A>G
c.428A>G
c.2871A>G (p.Lys957=)
c.768A>G (p.Lys256=)
c.3210A>G (p.Lys1070=)
c.1530A>G (p.Lys510=)
 gnomAD v4
Xg.108626298A>TCA413855022COL4A5c.3195A>T (p.Lys1065Asn)
n.2651A>T
c.428A>T
c.2871A>T (p.Lys957Asn)
c.768A>T (p.Lys256Asn)
c.3210A>T (p.Lys1070Asn)
c.1530A>T (p.Lys510Asn)
Xg.108626299G>ACA258827COL4A5c.3196G>A (p.Gly1066Ser)
n.2652G>A
c.429G>A
c.2872G>A (p.Gly958Ser)
c.769G>A (p.Gly257Ser)
c.3211G>A (p.Gly1071Ser)
c.1531G>A (p.Gly511Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108626299G>CCA258825COL4A5c.3196G>C (p.Gly1066Arg)
n.2652G>C
c.429G>C
c.2872G>C (p.Gly958Arg)
c.769G>C (p.Gly257Arg)
c.3211G>C (p.Gly1071Arg)
c.1531G>C (p.Gly511Arg)
 dbSNP
Xg.108626299G=CA2450698096COL4A5c.3196G= (p.Gly1066=)
n.2652G=
c.429G=
c.2872G= (p.Gly958=)
c.769G= (p.Gly257=)
c.3211G= (p.Gly1071=)
c.1531G= (p.Gly511=)
Xg.108626299G>TCA10489043COL4A5c.3196G>T (p.Gly1066Cys)
n.2652G>T
c.429G>T
c.2872G>T (p.Gly958Cys)
c.769G>T (p.Gly257Cys)
c.3211G>T (p.Gly1071Cys)
c.1531G>T (p.Gly511Cys)
 dbSNP ExAC
Xg.108626300G>ACA413855023COL4A5c.3197G>A (p.Gly1066Asp)
n.2653G>A
c.430G>A
c.2873G>A (p.Gly958Asp)
c.770G>A (p.Gly257Asp)
c.3212G>A (p.Gly1071Asp)
c.1532G>A (p.Gly511Asp)
 ClinVar dbSNP
Xg.108626300G>CCA258829COL4A5c.3197G>C (p.Gly1066Ala)
n.2653G>C
c.430G>C
c.2873G>C (p.Gly958Ala)
c.770G>C (p.Gly257Ala)
c.3212G>C (p.Gly1071Ala)
c.1532G>C (p.Gly511Ala)
 dbSNP
Xg.108626300G=CA2450698097COL4A5c.3197G= (p.Gly1066=)
n.2653G=
c.430G=
c.2873G= (p.Gly958=)
c.770G= (p.Gly257=)
c.3212G= (p.Gly1071=)
c.1532G= (p.Gly511=)
Xg.108626300G>TCA413855024COL4A5c.3197G>T (p.Gly1066Val)
n.2653G>T
c.430G>T
c.2873G>T (p.Gly958Val)
c.770G>T (p.Gly257Val)
c.3212G>T (p.Gly1071Val)
c.1532G>T (p.Gly511Val)
 ClinVar dbSNP
Xg.108626301T>ACA517925979COL4A5c.3198T>A (p.Gly1066=)
n.2654T>A
c.431T>A
c.2874T>A (p.Gly958=)
c.771T>A (p.Gly257=)
c.3213T>A (p.Gly1071=)
c.1533T>A (p.Gly511=)
Xg.108626301T>CCA517925980COL4A5c.3198T>C (p.Gly1066=)
n.2654T>C
c.431T>C
c.2874T>C (p.Gly958=)
c.771T>C (p.Gly257=)
c.3213T>C (p.Gly1071=)
c.1533T>C (p.Gly511=)
Xg.108626301T>GCA517925982COL4A5c.3198T>G (p.Gly1066=)
n.2654T>G
c.431T>G
c.2874T>G (p.Gly958=)
c.771T>G (p.Gly257=)
c.3213T>G (p.Gly1071=)
c.1533T>G (p.Gly511=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626301T=CA2450697562COL4A5c.3198T= (p.Gly1066=)
n.2654T=
c.431T=
c.2874T= (p.Gly958=)
c.771T= (p.Gly257=)
c.3213T= (p.Gly1071=)
c.1533T= (p.Gly511=)
Xg.108626302delCA2579676667COL4A5c.3199del (p.Asp1067IlefsTer?)
n.2655del
c.432del
c.3199del (p.Asp1067IlefsTer17)
c.2875del (p.Asp959IlefsTer?)
c.772del (p.Asp258IlefsTer?)
c.3214del (p.Asp1072IlefsTer?)
c.1534del (p.Asp512IlefsTer?)
Xg.108626302G>ACA413855025COL4A5c.3199G>A (p.Asp1067Asn)
n.2655G>A
c.432G>A
c.2875G>A (p.Asp959Asn)
c.772G>A (p.Asp258Asn)
c.3214G>A (p.Asp1072Asn)
c.1534G>A (p.Asp512Asn)
Xg.108626302G>CCA413855026COL4A5c.3199G>C (p.Asp1067His)
n.2655G>C
c.432G>C
c.2875G>C (p.Asp959His)
c.772G>C (p.Asp258His)
c.3214G>C (p.Asp1072His)
c.1534G>C (p.Asp512His)
Xg.108626302G>TCA413855027COL4A5c.3199G>T (p.Asp1067Tyr)
n.2655G>T
c.432G>T
c.2875G>T (p.Asp959Tyr)
c.772G>T (p.Asp258Tyr)
c.3214G>T (p.Asp1072Tyr)
c.1534G>T (p.Asp512Tyr)
Xg.108626303A>CCA413855029COL4A5c.3200A>C (p.Asp1067Ala)
n.2656A>C
c.433A>C
c.2876A>C (p.Asp959Ala)
c.773A>C (p.Asp258Ala)
c.3215A>C (p.Asp1072Ala)
c.1535A>C (p.Asp512Ala)
Xg.108626303A>GCA413855030COL4A5c.3200A>G (p.Asp1067Gly)
n.2656A>G
c.433A>G
c.2876A>G (p.Asp959Gly)
c.773A>G (p.Asp258Gly)
c.3215A>G (p.Asp1072Gly)
c.1535A>G (p.Asp512Gly)
Xg.108626303A>TCA413855028COL4A5c.3200A>T (p.Asp1067Val)
n.2656A>T
c.433A>T
c.2876A>T (p.Asp959Val)
c.773A>T (p.Asp258Val)
c.3215A>T (p.Asp1072Val)
c.1535A>T (p.Asp512Val)
Xg.108626304T>ACA413855031COL4A5c.3201T>A (p.Asp1067Glu)
n.2657T>A
c.434T>A
c.2877T>A (p.Asp959Glu)
c.774T>A (p.Asp258Glu)
c.3216T>A (p.Asp1072Glu)
c.1536T>A (p.Asp512Glu)
 gnomAD v4
Xg.108626304T>CCA517925984COL4A5c.3201T>C (p.Asp1067=)
n.2657T>C
c.434T>C
c.2877T>C (p.Asp959=)
c.774T>C (p.Asp258=)
c.3216T>C (p.Asp1072=)
c.1536T>C (p.Asp512=)
Xg.108626304T>GCA413855032COL4A5c.3201T>G (p.Asp1067Glu)
n.2657T>G
c.434T>G
c.2877T>G (p.Asp959Glu)
c.774T>G (p.Asp258Glu)
c.3216T>G (p.Asp1072Glu)
c.1536T>G (p.Asp512Glu)
Xg.108626305C>ACA413855033COL4A5c.3202C>A (p.Pro1068Thr)
n.2658C>A
c.435C>A
c.2878C>A (p.Pro960Thr)
c.775C>A (p.Pro259Thr)
c.3217C>A (p.Pro1073Thr)
c.1537C>A (p.Pro513Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.108626305C=CA2450697564COL4A5c.3202C= (p.Pro1068=)
n.2658C=
c.435C=
c.2878C= (p.Pro960=)
c.775C= (p.Pro259=)
c.3217C= (p.Pro1073=)
c.1537C= (p.Pro513=)
Xg.108626305C>GCA413855034COL4A5c.3202C>G (p.Pro1068Ala)
n.2658C>G
c.435C>G
c.2878C>G (p.Pro960Ala)
c.775C>G (p.Pro259Ala)
c.3217C>G (p.Pro1073Ala)
c.1537C>G (p.Pro513Ala)
Xg.108626305C>TCA413855035COL4A5c.3202C>T (p.Pro1068Ser)
n.2658C>T
c.435C>T
c.2878C>T (p.Pro960Ser)
c.775C>T (p.Pro259Ser)
c.3217C>T (p.Pro1073Ser)
c.1537C>T (p.Pro513Ser)
Xg.108626306C>ACA413855036COL4A5c.3203C>A (p.Pro1068His)
n.2659C>A
c.436C>A
c.2879C>A (p.Pro960His)
c.776C>A (p.Pro259His)
c.3218C>A (p.Pro1073His)
c.1538C>A (p.Pro513His)
Xg.108626306C>GCA413855037COL4A5c.3203C>G (p.Pro1068Arg)
n.2659C>G
c.436C>G
c.2879C>G (p.Pro960Arg)
c.776C>G (p.Pro259Arg)
c.3218C>G (p.Pro1073Arg)
c.1538C>G (p.Pro513Arg)
Xg.108626306C>TCA413855038COL4A5c.3203C>T (p.Pro1068Leu)
n.2659C>T
c.436C>T
c.2879C>T (p.Pro960Leu)
c.776C>T (p.Pro259Leu)
c.3218C>T (p.Pro1073Leu)
c.1538C>T (p.Pro513Leu)
Xg.108626307T>ACA517925986COL4A5c.3204T>A (p.Pro1068=)
n.2660T>A
c.437T>A
c.2880T>A (p.Pro960=)
c.777T>A (p.Pro259=)
c.3219T>A (p.Pro1073=)
c.1539T>A (p.Pro513=)
 gnomAD v4
Xg.108626307T>CCA517925988COL4A5c.3204T>C (p.Pro1068=)
n.2660T>C
c.437T>C
c.2880T>C (p.Pro960=)
c.777T>C (p.Pro259=)
c.3219T>C (p.Pro1073=)
c.1539T>C (p.Pro513=)
Xg.108626307T>GCA517925990COL4A5c.3204T>G (p.Pro1068=)
n.2660T>G
c.437T>G
c.2880T>G (p.Pro960=)
c.777T>G (p.Pro259=)
c.3219T>G (p.Pro1073=)
c.1539T>G (p.Pro513=)
Xg.108626308G>ACA413855039COL4A5c.3205G>A (p.Gly1069Ser)
n.2661G>A
c.438G>A
c.2881G>A (p.Gly961Ser)
c.778G>A (p.Gly260Ser)
c.3220G>A (p.Gly1074Ser)
c.1540G>A (p.Gly514Ser)
Xg.108626308G>CCA413855040COL4A5c.3205G>C (p.Gly1069Arg)
n.2661G>C
c.438G>C
c.2881G>C (p.Gly961Arg)
c.778G>C (p.Gly260Arg)
c.3220G>C (p.Gly1074Arg)
c.1540G>C (p.Gly514Arg)
Xg.108626308G>TCA413855041COL4A5c.3205G>T (p.Gly1069Cys)
n.2661G>T
c.438G>T
c.2881G>T (p.Gly961Cys)
c.778G>T (p.Gly260Cys)
c.3220G>T (p.Gly1074Cys)
c.1540G>T (p.Gly514Cys)
Xg.108626309G>ACA413855042COL4A5c.3206G>A (p.Gly1069Asp)
n.2662G>A
c.439G>A
c.2882G>A (p.Gly961Asp)
c.779G>A (p.Gly260Asp)
c.3221G>A (p.Gly1074Asp)
c.1541G>A (p.Gly514Asp)
 gnomAD v4
Xg.108626309G>CCA413855043COL4A5c.3206G>C (p.Gly1069Ala)
n.2662G>C
c.439G>C
c.2882G>C (p.Gly961Ala)
c.779G>C (p.Gly260Ala)
c.3221G>C (p.Gly1074Ala)
c.1541G>C (p.Gly514Ala)
Xg.108626309G=CA2450697572COL4A5c.3206G= (p.Gly1069=)
n.2662G=
c.439G=
c.2882G= (p.Gly961=)
c.779G= (p.Gly260=)
c.3221G= (p.Gly1074=)
c.1541G= (p.Gly514=)
Xg.108626309G>TCA258832COL4A5c.3206G>T (p.Gly1069Val)
n.2662G>T
c.439G>T
c.2882G>T (p.Gly961Val)
c.779G>T (p.Gly260Val)
c.3221G>T (p.Gly1074Val)
c.1541G>T (p.Gly514Val)
 ClinVar dbSNP
Xg.108626310T>ACA517925992COL4A5c.3207T>A (p.Gly1069=)
n.2663T>A
c.440T>A
c.2883T>A (p.Gly961=)
c.780T>A (p.Gly260=)
c.3222T>A (p.Gly1074=)
c.1542T>A (p.Gly514=)
Xg.108626310T>CCA517925993COL4A5c.3207T>C (p.Gly1069=)
n.2663T>C
c.440T>C
c.2883T>C (p.Gly961=)
c.780T>C (p.Gly260=)
c.3222T>C (p.Gly1074=)
c.1542T>C (p.Gly514=)
Xg.108626310T>GCA517925997COL4A5c.3207T>G (p.Gly1069=)
n.2663T>G
c.440T>G
c.2883T>G (p.Gly961=)
c.780T>G (p.Gly260=)
c.3222T>G (p.Gly1074=)
c.1542T>G (p.Gly514=)
Xg.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATCA2553195623COL4A5c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly1069_Ile1070insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp)
n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT
c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT
c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly961_Ile962insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp)
c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly260_Ile261insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp)
c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly1074_Ile1075insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp)
c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGAT (p.Gly514_Ile515insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAsp)
Xg.108626310_108626311insGCTACTGGCA2531327324COL4A5c.3207_3208insGCTACTGG (p.Ile1070AlafsTer?)
n.2663_2664insGCTACTGG
c.440_441insGCTACTGG
c.3207_3208insGCTACTGG (p.Ile1070AlafsTer17)
c.2883_2884insGCTACTGG (p.Ile962AlafsTer?)
c.780_781insGCTACTGG (p.Ile261AlafsTer?)
c.3222_3223insGCTACTGG (p.Ile1075AlafsTer?)
c.1542_1543insGCTACTGG (p.Ile515AlafsTer?)
Xg.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGCA2525388363COL4A5c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile1070AlafsTer27)
n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG
c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG
c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile1070AlafsTer?)
c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile962AlafsTer27)
c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile261AlafsTer27)
c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile1075AlafsTer27)
c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTG (p.Ile515AlafsTer27)
Xg.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACCA2550565175COL4A5c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly1069_Ile1070insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp)
n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC
c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC
c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly961_Ile962insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp)
c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly260_Ile261insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp)
c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly1074_Ile1075insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp)
c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGAC (p.Gly514_Ile515insAlaThrGlyGlnLysGlyGluLysGlyAsnLysGlyAspThrGlyAsp)
Xg.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAACA2512878891COL4A5c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile1070AlafsTer?)
n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA
c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA
c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile1070AlafsTer40)
c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile962AlafsTer?)
c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile261AlafsTer?)
c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile1075AlafsTer?)
c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAA (p.Ile515AlafsTer?)
Xg.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGACA2543819090COL4A5c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile1070AlafsTer46)
n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA
c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA
c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile1070AlafsTer?)
c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile962AlafsTer46)
c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile261AlafsTer46)
c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile1075AlafsTer46)
c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAAACAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGA (p.Ile515AlafsTer46)
Xg.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAGCA2573017368COL4A5c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly1069_Ile1070insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln)
n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG
c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG
c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly961_Ile962insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln)
c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly260_Ile261insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln)
c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly1074_Ile1075insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln)
c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGACACTGGGCAG (p.Gly514_Ile515insAlaThrGlyGlnLysGlyGluLysGlyAspLysGlyAspThrGlyAspThrGlyGlnLysGlyAspLysGlyAspLysGlyAspThrGlyAspThrGlyGln)
Xg.108626310_108626311insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGGCA2538531135COL4A5c.3207_3208insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile1070AlafsTer?)
n.2663_2664insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG
c.440_441insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG
c.3207_3208insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile1070AlafsTer53)
c.2883_2884insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile962AlafsTer?)
c.780_781insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile261AlafsTer?)
c.3222_3223insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile1075AlafsTer?)
c.1542_1543insGCCACTGGGCAAAAAGGTGAAAAAGGAGACAAAGGTGATACTGGTGCTACTGGACAAAAAGGAGATAAAGGAGAGCAAGGAGTGCCAGGTCAAAACGGTTCCAAAATTTATATAGG (p.Ile515AlafsTer?)
Xg.108626310_108626311insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGGCA2533710919COL4A5c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile1070AlafsTer?)
n.2663_2664insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG
c.440_441insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG
c.3207_3208insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile1070AlafsTer56)
c.2883_2884insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile962AlafsTer?)
c.780_781insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile261AlafsTer?)
c.3222_3223insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile1075AlafsTer?)
c.1542_1543insGCTACTGGACAAAAAGGTGAAAAAGGAGATAAGGGTGATACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGTGCCACTGGGCAGAAAGGCGATAAAGGGGAACAAGG (p.Ile515AlafsTer?)
Xg.108626311A=CA2450697576COL4A5c.3208A= (p.Ile1070=)
n.2664A=
c.441A=
c.2884A= (p.Ile962=)
c.781A= (p.Ile261=)
c.3223A= (p.Ile1075=)
c.1543A= (p.Ile515=)
Xg.108626311A>CCA413855044COL4A5c.3208A>C (p.Ile1070Leu)
n.2664A>C
c.441A>C
c.2884A>C (p.Ile962Leu)
c.781A>C (p.Ile261Leu)
c.3223A>C (p.Ile1075Leu)
c.1543A>C (p.Ile515Leu)
Xg.108626311A>GCA10489044COL4A5c.3208A>G (p.Ile1070Val)
n.2664A>G
c.441A>G
c.2884A>G (p.Ile962Val)
c.781A>G (p.Ile261Val)
c.3223A>G (p.Ile1075Val)
c.1543A>G (p.Ile515Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108626311A>TCA413855045COL4A5c.3208A>T (p.Ile1070Phe)
n.2664A>T
c.441A>T
c.2884A>T (p.Ile962Phe)
c.781A>T (p.Ile261Phe)
c.3223A>T (p.Ile1075Phe)
c.1543A>T (p.Ile515Phe)
Xg.108626312T>ACA413855046COL4A5c.3209T>A (p.Ile1070Asn)
n.2665T>A
c.442T>A
c.2885T>A (p.Ile962Asn)
c.782T>A (p.Ile261Asn)
c.3224T>A (p.Ile1075Asn)
c.1544T>A (p.Ile515Asn)
Xg.108626312T>CCA413855047COL4A5c.3209T>C (p.Ile1070Thr)
n.2665T>C
c.442T>C
c.2885T>C (p.Ile962Thr)
c.782T>C (p.Ile261Thr)
c.3224T>C (p.Ile1075Thr)
c.1544T>C (p.Ile515Thr)
Xg.108626312T>GCA413855048COL4A5c.3209T>G (p.Ile1070Ser)
n.2665T>G
c.442T>G
c.2885T>G (p.Ile962Ser)
c.782T>G (p.Ile261Ser)
c.3224T>G (p.Ile1075Ser)
c.1544T>G (p.Ile515Ser)
Xg.108626312_108626313insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACCA2822894985COL4A5c.3209_3210insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser1071LeufsTer?)
n.2665_2666insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC
c.442_443insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC
c.3209_3210insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser1071LeufsTer29)
c.2885_2886insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser963LeufsTer?)
c.782_783insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser262LeufsTer?)
c.3224_3225insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser1076LeufsTer?)
c.1544_1545insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATAC (p.Ser516LeufsTer?)
Xg.108626312_108626313insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAGCA2524496902COL4A5c.3209_3210insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser1071LeufsTer40)
n.2665_2666insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG
c.442_443insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG
c.3209_3210insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser1071LeufsTer?)
c.2885_2886insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser963LeufsTer40)
c.782_783insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser262LeufsTer40)
c.3224_3225insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser1076LeufsTer40)
c.1544_1545insACTGGTGACACTGGGCAAAAAGGAGACAAGGGCGACAAAGGCGATACTGGGCAGAAAGGCGATAAAGGGGAACAAGGAG (p.Ser516LeufsTer40)
Xg.108626313T>ACA517925999COL4A5c.3210T>A (p.Ile1070=)
n.2666T>A
c.443T>A
c.2886T>A (p.Ile962=)
c.783T>A (p.Ile261=)
c.3225T>A (p.Ile1075=)
c.1545T>A (p.Ile515=)
 ClinVar dbSNP
Xg.108626313T>CCA517926000COL4A5c.3210T>C (p.Ile1070=)
n.2666T>C
c.443T>C
c.2886T>C (p.Ile962=)
c.783T>C (p.Ile261=)
c.3225T>C (p.Ile1075=)
c.1545T>C (p.Ile515=)
Xg.108626313T>GCA413855049COL4A5c.3210T>G (p.Ile1070Met)
n.2666T>G
c.443T>G
c.2886T>G (p.Ile962Met)
c.783T>G (p.Ile261Met)
c.3225T>G (p.Ile1075Met)
c.1545T>G (p.Ile515Met)
Xg.108626314T>ACA413855050COL4A5c.3211T>A (p.Ser1071Thr)
n.2667T>A
c.444T>A
c.2887T>A (p.Ser963Thr)
c.784T>A (p.Ser262Thr)
c.3226T>A (p.Ser1076Thr)
c.1546T>A (p.Ser516Thr)
Xg.108626314T>CCA413855051COL4A5c.3211T>C (p.Ser1071Pro)
n.2667T>C
c.444T>C
c.2887T>C (p.Ser963Pro)
c.784T>C (p.Ser262Pro)
c.3226T>C (p.Ser1076Pro)
c.1546T>C (p.Ser516Pro)
Xg.108626314T>GCA413855052COL4A5c.3211T>G (p.Ser1071Ala)
n.2667T>G
c.444T>G
c.2887T>G (p.Ser963Ala)
c.784T>G (p.Ser262Ala)
c.3226T>G (p.Ser1076Ala)
c.1546T>G (p.Ser516Ala)
Xg.108626315C>ACA413855053COL4A5c.3212C>A (p.Ser1071Ter)
n.2668C>A
c.445C>A
c.2888C>A (p.Ser963Ter)
c.785C>A (p.Ser262Ter)
c.3227C>A (p.Ser1076Ter)
c.1547C>A (p.Ser516Ter)
Xg.108626315C=CA2450697580COL4A5c.3212C= (p.Ser1071=)
n.2668C=
c.445C=
c.2888C= (p.Ser963=)
c.785C= (p.Ser262=)
c.3227C= (p.Ser1076=)
c.1547C= (p.Ser516=)
Xg.108626315C>GCA258835COL4A5c.3212C>G (p.Ser1071Ter)
n.2668C>G
c.445C>G
c.2888C>G (p.Ser963Ter)
c.785C>G (p.Ser262Ter)
c.3227C>G (p.Ser1076Ter)
c.1547C>G (p.Ser516Ter)
 dbSNP
Xg.108626315C>TCA413855054COL4A5c.3212C>T (p.Ser1071Leu)
n.2668C>T
c.445C>T
c.2888C>T (p.Ser963Leu)
c.785C>T (p.Ser262Leu)
c.3227C>T (p.Ser1076Leu)
c.1547C>T (p.Ser516Leu)
Xg.108626316A>CCA517926002COL4A5c.3213A>C (p.Ser1071=)
n.2669A>C
c.446A>C
c.2889A>C (p.Ser963=)
c.786A>C (p.Ser262=)
c.3228A>C (p.Ser1076=)
c.1548A>C (p.Ser516=)
Xg.108626316A>GCA517926004COL4A5c.3213A>G (p.Ser1071=)
n.2669A>G
c.446A>G
c.2889A>G (p.Ser963=)
c.786A>G (p.Ser262=)
c.3228A>G (p.Ser1076=)
c.1548A>G (p.Ser516=)
Xg.108626316A>TCA517926005COL4A5c.3213A>T (p.Ser1071=)
n.2669A>T
c.446A>T
c.2889A>T (p.Ser963=)
c.786A>T (p.Ser262=)
c.3228A>T (p.Ser1076=)
c.1548A>T (p.Ser516=)
Xg.108626317A>CCA413855056COL4A5c.3214A>C (p.Ser1072Arg)
n.2670A>C
c.447A>C
c.2890A>C (p.Ser964Arg)
c.787A>C (p.Ser263Arg)
c.3229A>C (p.Ser1077Arg)
c.1549A>C (p.Ser517Arg)
Xg.108626317A>GCA413855057COL4A5c.3214A>G (p.Ser1072Gly)
n.2670A>G
c.447A>G
c.2890A>G (p.Ser964Gly)
c.787A>G (p.Ser263Gly)
c.3229A>G (p.Ser1077Gly)
c.1549A>G (p.Ser517Gly)
Xg.108626317A>TCA413855055COL4A5c.3214A>T (p.Ser1072Cys)
n.2670A>T
c.447A>T
c.2890A>T (p.Ser964Cys)
c.787A>T (p.Ser263Cys)
c.3229A>T (p.Ser1077Cys)
c.1549A>T (p.Ser517Cys)
Xg.108626319_108626332delCA2697544691COL4A5c.3216_3229del (p.Ser1072ArgfsTer8)
n.2672_2685del
c.449_462del
c.3216_3229del (p.Ser1072ArgfsTer?)
c.2892_2905del (p.Ser964ArgfsTer8)
c.789_802del (p.Ser263ArgfsTer8)
c.3231_3244del (p.Ser1077ArgfsTer8)
c.1551_1564del (p.Ser517ArgfsTer8)
 ClinVar
Xg.108626318G>ACA413855059COL4A5c.3215G>A (p.Ser1072Asn)
n.2671G>A
c.448G>A
c.2891G>A (p.Ser964Asn)
c.788G>A (p.Ser263Asn)
c.3230G>A (p.Ser1077Asn)
c.1550G>A (p.Ser517Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.108626318G>CCA413855060COL4A5c.3215G>C (p.Ser1072Thr)
n.2671G>C
c.448G>C
c.2891G>C (p.Ser964Thr)
c.788G>C (p.Ser263Thr)
c.3230G>C (p.Ser1077Thr)
c.1550G>C (p.Ser517Thr)
Xg.108626318G=CA2450697584COL4A5c.3215G= (p.Ser1072=)
n.2671G=
c.448G=
c.2891G= (p.Ser964=)
c.788G= (p.Ser263=)
c.3230G= (p.Ser1077=)
c.1550G= (p.Ser517=)
Xg.108626318G>TCA413855061COL4A5c.3215G>T (p.Ser1072Ile)
n.2671G>T
c.448G>T
c.2891G>T (p.Ser964Ile)
c.788G>T (p.Ser263Ile)
c.3230G>T (p.Ser1077Ile)
c.1550G>T (p.Ser517Ile)
Xg.108626319C>ACA413855062COL4A5c.3216C>A (p.Ser1072Arg)
n.2672C>A
c.449C>A
c.2892C>A (p.Ser964Arg)
c.789C>A (p.Ser263Arg)
c.3231C>A (p.Ser1077Arg)
c.1551C>A (p.Ser517Arg)
 gnomAD v4
Xg.108626319C>GCA413855063COL4A5c.3216C>G (p.Ser1072Arg)
n.2672C>G
c.449C>G
c.2892C>G (p.Ser964Arg)
c.789C>G (p.Ser263Arg)
c.3231C>G (p.Ser1077Arg)
c.1551C>G (p.Ser517Arg)
Xg.108626319C>TCA517926006COL4A5c.3216C>T (p.Ser1072=)
n.2672C>T
c.449C>T
c.2892C>T (p.Ser964=)
c.789C>T (p.Ser263=)
c.3231C>T (p.Ser1077=)
c.1551C>T (p.Ser517=)
Xg.108626320A=CA2450697587COL4A5c.3217A= (p.Ile1073=)
n.2673A=
c.450A=
c.2893A= (p.Ile965=)
c.790A= (p.Ile264=)
c.3232A= (p.Ile1078=)
c.1552A= (p.Ile518=)
Xg.108626320A>CCA413855064COL4A5c.3217A>C (p.Ile1073Leu)
n.2673A>C
c.450A>C
c.2893A>C (p.Ile965Leu)
c.790A>C (p.Ile264Leu)
c.3232A>C (p.Ile1078Leu)
c.1552A>C (p.Ile518Leu)
Xg.108626320A>GCA413855065COL4A5c.3217A>G (p.Ile1073Val)
n.2673A>G
c.450A>G
c.2893A>G (p.Ile965Val)
c.790A>G (p.Ile264Val)
c.3232A>G (p.Ile1078Val)
c.1552A>G (p.Ile518Val)
 dbSNP
Xg.108626320A>TCA413855066COL4A5c.3217A>T (p.Ile1073Phe)
n.2673A>T
c.450A>T
c.2893A>T (p.Ile965Phe)
c.790A>T (p.Ile264Phe)
c.3232A>T (p.Ile1078Phe)
c.1552A>T (p.Ile518Phe)
Xg.108626321T>ACA413855067COL4A5c.3218T>A (p.Ile1073Asn)
n.2674T>A
c.451T>A
c.2894T>A (p.Ile965Asn)
c.791T>A (p.Ile264Asn)
c.3233T>A (p.Ile1078Asn)
c.1553T>A (p.Ile518Asn)
Xg.108626321T>CCA413855068COL4A5c.3218T>C (p.Ile1073Thr)
n.2674T>C
c.451T>C
c.2894T>C (p.Ile965Thr)
c.791T>C (p.Ile264Thr)
c.3233T>C (p.Ile1078Thr)
c.1553T>C (p.Ile518Thr)
 dbSNP gnomAD v2
Xg.108626321T>GCA413855069COL4A5c.3218T>G (p.Ile1073Ser)
n.2674T>G
c.451T>G
c.2894T>G (p.Ile965Ser)
c.791T>G (p.Ile264Ser)
c.3233T>G (p.Ile1078Ser)
c.1553T>G (p.Ile518Ser)
Xg.108626321T=CA2450697590COL4A5c.3218T= (p.Ile1073=)
n.2674T=
c.451T=
c.2894T= (p.Ile965=)
c.791T= (p.Ile264=)
c.3233T= (p.Ile1078=)
c.1553T= (p.Ile518=)
Xg.108626322T>ACA517926008COL4A5c.3219T>A (p.Ile1073=)
n.2675T>A
c.452T>A
c.2895T>A (p.Ile965=)
c.792T>A (p.Ile264=)
c.3234T>A (p.Ile1078=)
c.1554T>A (p.Ile518=)
Xg.108626322T>CCA517926009COL4A5c.3219T>C (p.Ile1073=)
n.2675T>C
c.452T>C
c.2895T>C (p.Ile965=)
c.792T>C (p.Ile264=)
c.3234T>C (p.Ile1078=)
c.1554T>C (p.Ile518=)
Xg.108626322T>GCA413855070COL4A5c.3219T>G (p.Ile1073Met)
n.2675T>G
c.452T>G
c.2895T>G (p.Ile965Met)
c.792T>G (p.Ile264Met)
c.3234T>G (p.Ile1078Met)
c.1554T>G (p.Ile518Met)
Xg.108626323G>ACA10489045COL4A5c.3220G>A (p.Gly1074Ser)
n.2676G>A
c.453G>A
c.2896G>A (p.Gly966Ser)
c.793G>A (p.Gly265Ser)
c.3235G>A (p.Gly1079Ser)
c.1555G>A (p.Gly519Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108626323G>CCA10489046COL4A5c.3220G>C (p.Gly1074Arg)
n.2676G>C
c.453G>C
c.2896G>C (p.Gly966Arg)
c.793G>C (p.Gly265Arg)
c.3235G>C (p.Gly1079Arg)
c.1555G>C (p.Gly519Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108626323G=CA2450697596COL4A5c.3220G= (p.Gly1074=)
n.2676G=
c.453G=
c.2896G= (p.Gly966=)
c.793G= (p.Gly265=)
c.3235G= (p.Gly1079=)
c.1555G= (p.Gly519=)
Xg.108626323G>TCA413855071COL4A5c.3220G>T (p.Gly1074Cys)
n.2676G>T
c.453G>T
c.2896G>T (p.Gly966Cys)
c.793G>T (p.Gly265Cys)
c.3235G>T (p.Gly1079Cys)
c.1555G>T (p.Gly519Cys)
 gnomAD v4
Xg.108626324G>ACA413855072COL4A5c.3221G>A (p.Gly1074Asp)
n.2677G>A
c.454G>A
c.2897G>A (p.Gly966Asp)
c.794G>A (p.Gly265Asp)
c.3236G>A (p.Gly1079Asp)
c.1556G>A (p.Gly519Asp)
Xg.108626324G>CCA413855073COL4A5c.3221G>C (p.Gly1074Ala)
n.2677G>C
c.454G>C
c.2897G>C (p.Gly966Ala)
c.794G>C (p.Gly265Ala)
c.3236G>C (p.Gly1079Ala)
c.1556G>C (p.Gly519Ala)
Xg.108626324G>TCA413855074COL4A5c.3221G>T (p.Gly1074Val)
n.2677G>T
c.454G>T
c.2897G>T (p.Gly966Val)
c.794G>T (p.Gly265Val)
c.3236G>T (p.Gly1079Val)
c.1556G>T (p.Gly519Val)
Xg.108626325T>ACA517926012COL4A5c.3222T>A (p.Gly1074=)
n.2678T>A
c.455T>A
c.2898T>A (p.Gly966=)
c.795T>A (p.Gly265=)
c.3237T>A (p.Gly1079=)
c.1557T>A (p.Gly519=)
Xg.108626325T>CCA517926013COL4A5c.3222T>C (p.Gly1074=)
n.2678T>C
c.455T>C
c.2898T>C (p.Gly966=)
c.795T>C (p.Gly265=)
c.3237T>C (p.Gly1079=)
c.1557T>C (p.Gly519=)
Xg.108626325T>GCA10489047COL4A5c.3222T>G (p.Gly1074=)
n.2678T>G
c.455T>G
c.2898T>G (p.Gly966=)
c.795T>G (p.Gly265=)
c.3237T>G (p.Gly1079=)
c.1557T>G (p.Gly519=)
 dbSNP ExAC gnomAD v2
Xg.108626325T=CA2450697600COL4A5c.3222T= (p.Gly1074=)
n.2678T=
c.455T=
c.2898T= (p.Gly966=)
c.795T= (p.Gly265=)
c.3237T= (p.Gly1079=)
c.1557T= (p.Gly519=)
Xg.108626326C>ACA413855075COL4A5c.3223C>A (p.Leu1075Ile)
n.2679C>A
c.456C>A
c.2899C>A (p.Leu967Ile)
c.796C>A (p.Leu266Ile)
c.3238C>A (p.Leu1080Ile)
c.1558C>A (p.Leu520Ile)
Xg.108626326C=CA2450697603COL4A5c.3223C= (p.Leu1075=)
n.2679C=
c.456C=
c.2899C= (p.Leu967=)
c.796C= (p.Leu266=)
c.3238C= (p.Leu1080=)
c.1558C= (p.Leu520=)
Xg.108626326C>GCA413855076COL4A5c.3223C>G (p.Leu1075Val)
n.2679C>G
c.456C>G
c.2899C>G (p.Leu967Val)
c.796C>G (p.Leu266Val)
c.3238C>G (p.Leu1080Val)
c.1558C>G (p.Leu520Val)
Xg.108626326C>TCA334052658COL4A5c.3223C>T (p.Leu1075Phe)
n.2679C>T
c.456C>T
c.2899C>T (p.Leu967Phe)
c.796C>T (p.Leu266Phe)
c.3238C>T (p.Leu1080Phe)
c.1558C>T (p.Leu520Phe)
 dbSNP
Xg.108626327T>ACA413855077COL4A5c.3224T>A (p.Leu1075His)
n.2680T>A
c.457T>A
c.2900T>A (p.Leu967His)
c.797T>A (p.Leu266His)
c.3239T>A (p.Leu1080His)
c.1559T>A (p.Leu520His)
Xg.108626327T>CCA413855078COL4A5c.3224T>C (p.Leu1075Pro)
n.2680T>C
c.457T>C
c.2900T>C (p.Leu967Pro)
c.797T>C (p.Leu266Pro)
c.3239T>C (p.Leu1080Pro)
c.1559T>C (p.Leu520Pro)
Xg.108626327T>GCA413855079COL4A5c.3224T>G (p.Leu1075Arg)
n.2680T>G
c.457T>G
c.2900T>G (p.Leu967Arg)
c.797T>G (p.Leu266Arg)
c.3239T>G (p.Leu1080Arg)
c.1559T>G (p.Leu520Arg)
 dbSNP gnomAD v2
Xg.108626327T=CA2450697604COL4A5c.3224T= (p.Leu1075=)
n.2680T=
c.457T=
c.2900T= (p.Leu967=)
c.797T= (p.Leu266=)
c.3239T= (p.Leu1080=)
c.1559T= (p.Leu520=)
Xg.108626328T>ACA517926015COL4A5c.3225T>A (p.Leu1075=)
n.2681T>A
c.458T>A
c.2901T>A (p.Leu967=)
c.798T>A (p.Leu266=)
c.3240T>A (p.Leu1080=)
c.1560T>A (p.Leu520=)
Xg.108626328T>CCA517926017COL4A5c.3225T>C (p.Leu1075=)
n.2681T>C
c.458T>C
c.2901T>C (p.Leu967=)
c.798T>C (p.Leu266=)
c.3240T>C (p.Leu1080=)
c.1560T>C (p.Leu520=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108626328T>GCA517926016COL4A5c.3225T>G (p.Leu1075=)
n.2681T>G
c.458T>G
c.2901T>G (p.Leu967=)
c.798T>G (p.Leu266=)
c.3240T>G (p.Leu1080=)
c.1560T>G (p.Leu520=)
Xg.108626328T=CA2450697608COL4A5c.3225T= (p.Leu1075=)
n.2681T=
c.458T=
c.2901T= (p.Leu967=)
c.798T= (p.Leu266=)
c.3240T= (p.Leu1080=)
c.1560T= (p.Leu520=)
Xg.108626328_108626329delinsTCCA2450697606COL4A5c.3225_3226delinsTC (p.Leu1075=)
n.2681_2682delinsTC
c.458_459delinsTC
c.2901_2902delinsTC (p.Leu967=)
c.798_799delinsTC (p.Leu266=)
c.3240_3241delinsTC (p.Leu1080=)
c.1560_1561delinsTC (p.Leu520=)
Xg.108626329C>ACA413855080COL4A5c.3226C>A (p.Pro1076Thr)
n.2682C>A
c.459C>A
c.2902C>A (p.Pro968Thr)
c.799C>A (p.Pro267Thr)
c.3241C>A (p.Pro1081Thr)
c.1561C>A (p.Pro521Thr)
Xg.108626329C=CA2450697613COL4A5c.3226C= (p.Pro1076=)
n.2682C=
c.459C=
c.2902C= (p.Pro968=)
c.799C= (p.Pro267=)
c.3241C= (p.Pro1081=)
c.1561C= (p.Pro521=)
Xg.108626329C>GCA413855081COL4A5c.3226C>G (p.Pro1076Ala)
n.2682C>G
c.459C>G
c.2902C>G (p.Pro968Ala)
c.799C>G (p.Pro267Ala)
c.3241C>G (p.Pro1081Ala)
c.1561C>G (p.Pro521Ala)
Xg.108626329C>TCA10489048COL4A5c.3226C>T (p.Pro1076Ser)
n.2682C>T
c.459C>T
c.2902C>T (p.Pro968Ser)
c.799C>T (p.Pro267Ser)
c.3241C>T (p.Pro1081Ser)
c.1561C>T (p.Pro521Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108626330delCA891843949COL4A5c.3227del (p.Pro1076GlnfsTer?)
n.2683del
c.460del
c.3227del (p.Pro1076GlnfsTer8)
c.2903del (p.Pro968GlnfsTer?)
c.800del (p.Pro267GlnfsTer?)
c.3242del (p.Pro1081GlnfsTer?)
c.1562del (p.Pro521GlnfsTer?)
Xg.108626330C>ACA413855083COL4A5c.3227C>A (p.Pro1076Gln)
n.2683C>A
c.460C>A
c.2903C>A (p.Pro968Gln)
c.800C>A (p.Pro267Gln)
c.3242C>A (p.Pro1081Gln)
c.1562C>A (p.Pro521Gln)
Xg.108626330C>GCA413855084COL4A5c.3227C>G (p.Pro1076Arg)
n.2683C>G
c.460C>G
c.2903C>G (p.Pro968Arg)
c.800C>G (p.Pro267Arg)
c.3242C>G (p.Pro1081Arg)
c.1562C>G (p.Pro521Arg)
Xg.108626330C>TCA413855082COL4A5c.3227C>T (p.Pro1076Leu)
n.2683C>T
c.460C>T
c.2903C>T (p.Pro968Leu)
c.800C>T (p.Pro267Leu)
c.3242C>T (p.Pro1081Leu)
c.1562C>T (p.Pro521Leu)
 COSMIC COSMIC
Xg.108626331A=CA2450697621COL4A5c.3228A= (p.Pro1076=)
n.2684A=
c.461A=
c.2904A= (p.Pro968=)
c.801A= (p.Pro267=)
c.3243A= (p.Pro1081=)
c.1563A= (p.Pro521=)
Xg.108626331A>CCA517926019COL4A5c.3228A>C (p.Pro1076=)
n.2684A>C
c.461A>C
c.2904A>C (p.Pro968=)
c.801A>C (p.Pro267=)
c.3243A>C (p.Pro1081=)
c.1563A>C (p.Pro521=)
Xg.108626331A>GCA517926020COL4A5c.3228A>G (p.Pro1076=)
n.2684A>G
c.461A>G
c.2904A>G (p.Pro968=)
c.801A>G (p.Pro267=)
c.3243A>G (p.Pro1081=)
c.1563A>G (p.Pro521=)
Xg.108626331A>TCA334052664COL4A5c.3228A>T (p.Pro1076=)
n.2684A>T
c.461A>T
c.2904A>T (p.Pro968=)
c.801A>T (p.Pro267=)
c.3243A>T (p.Pro1081=)
c.1563A>T (p.Pro521=)
 dbSNP
Xg.108626332G>ACA413855085COL4A5c.3229G>A (p.Gly1077Ser)
n.2685G>A
c.462G>A
c.2905G>A (p.Gly969Ser)
c.802G>A (p.Gly268Ser)
c.3244G>A (p.Gly1082Ser)
c.1564G>A (p.Gly522Ser)
Xg.108626332G>CCA413855087COL4A5c.3229G>C (p.Gly1077Arg)
n.2685G>C
c.462G>C
c.2905G>C (p.Gly969Arg)
c.802G>C (p.Gly268Arg)
c.3244G>C (p.Gly1082Arg)
c.1564G>C (p.Gly522Arg)
Xg.108626332G>TCA413855086COL4A5c.3229G>T (p.Gly1077Cys)
n.2685G>T
c.462G>T
c.2905G>T (p.Gly969Cys)
c.802G>T (p.Gly268Cys)
c.3244G>T (p.Gly1082Cys)
c.1564G>T (p.Gly522Cys)
Xg.108626333delCA2573159106COL4A5c.3230del (p.Gly1077ValfsTer?)
n.2686del
c.463del
c.3230del (p.Gly1077ValfsTer7)
c.2906del (p.Gly969ValfsTer?)
c.803del (p.Gly268ValfsTer?)
c.3245del (p.Gly1082ValfsTer?)
c.1565del (p.Gly522ValfsTer?)
 ClinVar dbSNP
Xg.108626333G>ACA413855088COL4A5c.3230G>A (p.Gly1077Asp)
n.2686G>A
c.463G>A
c.2906G>A (p.Gly969Asp)
c.803G>A (p.Gly268Asp)
c.3245G>A (p.Gly1082Asp)
c.1565G>A (p.Gly522Asp)
Xg.108626333G>CCA413855089COL4A5c.3230G>C (p.Gly1077Ala)
n.2686G>C
c.463G>C
c.2906G>C (p.Gly969Ala)
c.803G>C (p.Gly268Ala)
c.3245G>C (p.Gly1082Ala)
c.1565G>C (p.Gly522Ala)
Xg.108626333G>TCA413855090COL4A5c.3230G>T (p.Gly1077Val)
n.2686G>T
c.463G>T
c.2906G>T (p.Gly969Val)
c.803G>T (p.Gly268Val)
c.3245G>T (p.Gly1082Val)
c.1565G>T (p.Gly522Val)
Xg.108626334T>ACA517926022COL4A5c.3231T>A (p.Gly1077=)
n.2687T>A
c.464T>A
c.2907T>A (p.Gly969=)
c.804T>A (p.Gly268=)
c.3246T>A (p.Gly1082=)
c.1566T>A (p.Gly522=)
Xg.108626334T>CCA517926023COL4A5c.3231T>C (p.Gly1077=)
n.2687T>C
c.464T>C
c.2907T>C (p.Gly969=)
c.804T>C (p.Gly268=)
c.3246T>C (p.Gly1082=)
c.1566T>C (p.Gly522=)
Xg.108626334T>GCA517926025COL4A5c.3231T>G (p.Gly1077=)
n.2687T>G
c.464T>G
c.2907T>G (p.Gly969=)
c.804T>G (p.Gly268=)
c.3246T>G (p.Gly1082=)
c.1566T>G (p.Gly522=)
Xg.108626335C>ACA413855091COL4A5c.3232C>A (p.Leu1078Ile)
n.2688C>A
c.465C>A
c.2908C>A (p.Leu970Ile)
c.805C>A (p.Leu269Ile)
c.3247C>A (p.Leu1083Ile)
c.1567C>A (p.Leu523Ile)
Xg.108626335C=CA2450697624COL4A5c.3232C= (p.Leu1078=)
n.2688C=
c.465C=
c.2908C= (p.Leu970=)
c.805C= (p.Leu269=)
c.3247C= (p.Leu1083=)
c.1567C= (p.Leu523=)
Xg.108626335C>GCA413855092COL4A5c.3232C>G (p.Leu1078Val)
n.2688C>G
c.465C>G
c.2908C>G (p.Leu970Val)
c.805C>G (p.Leu269Val)
c.3247C>G (p.Leu1083Val)
c.1567C>G (p.Leu523Val)
Xg.108626335C>TCA10489049COL4A5c.3232C>T (p.Leu1078Phe)
n.2688C>T
c.465C>T
c.2908C>T (p.Leu970Phe)
c.805C>T (p.Leu269Phe)
c.3247C>T (p.Leu1083Phe)
c.1567C>T (p.Leu523Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108626336T>ACA413855093COL4A5c.3233T>A (p.Leu1078His)
n.2689T>A
c.466T>A
c.2909T>A (p.Leu970His)
c.806T>A (p.Leu269His)
c.3248T>A (p.Leu1083His)
c.1568T>A (p.Leu523His)
Xg.108626336T>CCA413855094COL4A5c.3233T>C (p.Leu1078Pro)
n.2689T>C
c.466T>C
c.2909T>C (p.Leu970Pro)
c.806T>C (p.Leu269Pro)
c.3248T>C (p.Leu1083Pro)
c.1568T>C (p.Leu523Pro)
Xg.108626336T>GCA413855095COL4A5c.3233T>G (p.Leu1078Arg)
n.2689T>G
c.466T>G
c.2909T>G (p.Leu970Arg)
c.806T>G (p.Leu269Arg)
c.3248T>G (p.Leu1083Arg)
c.1568T>G (p.Leu523Arg)
Xg.108626337T>ACA517926028COL4A5c.3234T>A (p.Leu1078=)
n.2690T>A
c.467T>A
c.2910T>A (p.Leu970=)
c.807T>A (p.Leu269=)
c.3249T>A (p.Leu1083=)
c.1569T>A (p.Leu523=)
Xg.108626337T>CCA517926026COL4A5c.3234T>C (p.Leu1078=)
n.2690T>C
c.467T>C
c.2910T>C (p.Leu970=)
c.807T>C (p.Leu269=)
c.3249T>C (p.Leu1083=)
c.1569T>C (p.Leu523=)
Xg.108626337T>GCA517926027COL4A5c.3234T>G (p.Leu1078=)
n.2690T>G
c.467T>G
c.2910T>G (p.Leu970=)
c.807T>G (p.Leu269=)
c.3249T>G (p.Leu1083=)
c.1569T>G (p.Leu523=)
Xg.108626338C>ACA413855096COL4A5c.3235C>A (p.Pro1079Thr)
n.2691C>A
c.468C>A
c.2911C>A (p.Pro971Thr)
c.808C>A (p.Pro270Thr)
c.3250C>A (p.Pro1084Thr)
c.1570C>A (p.Pro524Thr)
Xg.108626338C>GCA413855097COL4A5c.3235C>G (p.Pro1079Ala)
n.2691C>G
c.468C>G
c.2911C>G (p.Pro971Ala)
c.808C>G (p.Pro270Ala)
c.3250C>G (p.Pro1084Ala)
c.1570C>G (p.Pro524Ala)
Xg.108626338C>TCA413855098COL4A5c.3235C>T (p.Pro1079Ser)
n.2691C>T
c.468C>T
c.2911C>T (p.Pro971Ser)
c.808C>T (p.Pro270Ser)
c.3250C>T (p.Pro1084Ser)
c.1570C>T (p.Pro524Ser)
 gnomAD v4
Xg.108626339C>ACA413855099COL4A5c.3236C>A (p.Pro1079His)
n.2692C>A
c.469C>A
c.2912C>A (p.Pro971His)
c.809C>A (p.Pro270His)
c.3251C>A (p.Pro1084His)
c.1571C>A (p.Pro524His)
Xg.108626339C>GCA413855101COL4A5c.3236C>G (p.Pro1079Arg)
n.2692C>G
c.469C>G
c.2912C>G (p.Pro971Arg)
c.809C>G (p.Pro270Arg)
c.3251C>G (p.Pro1084Arg)
c.1571C>G (p.Pro524Arg)
Xg.108626339C>TCA413855100COL4A5c.3236C>T (p.Pro1079Leu)
n.2692C>T
c.469C>T
c.2912C>T (p.Pro971Leu)
c.809C>T (p.Pro270Leu)
c.3251C>T (p.Pro1084Leu)
c.1571C>T (p.Pro524Leu)
Xg.108626340T>ACA517926030COL4A5c.3237T>A (p.Pro1079=)
n.2693T>A
c.470T>A
c.2913T>A (p.Pro971=)
c.810T>A (p.Pro270=)
c.3252T>A (p.Pro1084=)
c.1572T>A (p.Pro524=)
Xg.108626340T>CCA517926031COL4A5c.3237T>C (p.Pro1079=)
n.2693T>C
c.470T>C
c.2913T>C (p.Pro971=)
c.810T>C (p.Pro270=)
c.3252T>C (p.Pro1084=)
c.1572T>C (p.Pro524=)
Xg.108626340T>GCA517926032COL4A5c.3237T>G (p.Pro1079=)
n.2693T>G
c.470T>G
c.2913T>G (p.Pro971=)
c.810T>G (p.Pro270=)
c.3252T>G (p.Pro1084=)
c.1572T>G (p.Pro524=)
 ClinVar dbSNP gnomAD v4
Xg.108626341G>ACA413855102COL4A5c.3238G>A (p.Gly1080Ser)
n.2694G>A
c.471G>A
c.2914G>A (p.Gly972Ser)
c.811G>A (p.Gly271Ser)
c.3253G>A (p.Gly1085Ser)
c.1573G>A (p.Gly525Ser)
Xg.108626341G>CCA413855103COL4A5c.3238G>C (p.Gly1080Arg)
n.2694G>C
c.471G>C
c.2914G>C (p.Gly972Arg)
c.811G>C (p.Gly271Arg)
c.3253G>C (p.Gly1085Arg)
c.1573G>C (p.Gly525Arg)
 ClinVar dbSNP
Xg.108626341G=CA2450697628COL4A5c.3238G= (p.Gly1080=)
n.2694G=
c.471G=
c.2914G= (p.Gly972=)
c.811G= (p.Gly271=)
c.3253G= (p.Gly1085=)
c.1573G= (p.Gly525=)
Xg.108626341G>TCA413855104COL4A5c.3238G>T (p.Gly1080Cys)
n.2694G>T
c.471G>T
c.2914G>T (p.Gly972Cys)
c.811G>T (p.Gly271Cys)
c.3253G>T (p.Gly1085Cys)
c.1573G>T (p.Gly525Cys)
Xg.108626342G>ACA413855105COL4A5c.3239G>A (p.Gly1080Asp)
n.2695G>A
c.472G>A
c.2915G>A (p.Gly972Asp)
c.812G>A (p.Gly271Asp)
c.3254G>A (p.Gly1085Asp)
c.1574G>A (p.Gly525Asp)
Xg.108626342G>CCA413855106COL4A5c.3239G>C (p.Gly1080Ala)
n.2695G>C
c.472G>C
c.2915G>C (p.Gly972Ala)
c.812G>C (p.Gly271Ala)
c.3254G>C (p.Gly1085Ala)
c.1574G>C (p.Gly525Ala)
Xg.108626342G>TCA413855107COL4A5c.3239G>T (p.Gly1080Val)
n.2695G>T
c.472G>T
c.2915G>T (p.Gly972Val)
c.812G>T (p.Gly271Val)
c.3254G>T (p.Gly1085Val)
c.1574G>T (p.Gly525Val)
Xg.108626343T>ACA10489050COL4A5c.3240T>A (p.Gly1080=)
n.2696T>A
c.473T>A
c.2916T>A (p.Gly972=)
c.813T>A (p.Gly271=)
c.3255T>A (p.Gly1085=)
c.1575T>A (p.Gly525=)
 dbSNP ExAC gnomAD v4
Xg.108626343T>CCA517926034COL4A5c.3240T>C (p.Gly1080=)
n.2696T>C
c.473T>C
c.2916T>C (p.Gly972=)
c.813T>C (p.Gly271=)
c.3255T>C (p.Gly1085=)
c.1575T>C (p.Gly525=)
Xg.108626343T>GCA517926033COL4A5c.3240T>G (p.Gly1080=)
n.2696T>G
c.473T>G
c.2916T>G (p.Gly972=)
c.813T>G (p.Gly271=)
c.3255T>G (p.Gly1085=)
c.1575T>G (p.Gly525=)
Xg.108626343T=CA2450697632COL4A5c.3240T= (p.Gly1080=)
n.2696T=
c.473T=
c.2916T= (p.Gly972=)
c.813T= (p.Gly271=)
c.3255T= (p.Gly1085=)
c.1575T= (p.Gly525=)
Xg.108626344C>ACA413855108COL4A5c.3241C>A (p.Pro1081Thr)
n.2697C>A
c.474C>A
c.2917C>A (p.Pro973Thr)
c.814C>A (p.Pro272Thr)
c.3256C>A (p.Pro1086Thr)
c.1576C>A (p.Pro526Thr)
 gnomAD v4
Xg.108626344C>GCA413855109COL4A5c.3241C>G (p.Pro1081Ala)
n.2697C>G
c.474C>G
c.2917C>G (p.Pro973Ala)
c.814C>G (p.Pro272Ala)
c.3256C>G (p.Pro1086Ala)
c.1576C>G (p.Pro526Ala)
 ClinVar
Xg.108626344C>TCA413855110COL4A5c.3241C>T (p.Pro1081Ser)
n.2697C>T
c.474C>T
c.2917C>T (p.Pro973Ser)
c.814C>T (p.Pro272Ser)
c.3256C>T (p.Pro1086Ser)
c.1576C>T (p.Pro526Ser)
Xg.108626345C>ACA413855112COL4A5c.3242C>A (p.Pro1081Gln)
n.2698C>A
c.475C>A
c.2918C>A (p.Pro973Gln)
c.815C>A (p.Pro272Gln)
c.3257C>A (p.Pro1086Gln)
c.1577C>A (p.Pro526Gln)
Xg.108626345C>GCA413855113COL4A5c.3242C>G (p.Pro1081Arg)
n.2698C>G
c.475C>G
c.2918C>G (p.Pro973Arg)
c.815C>G (p.Pro272Arg)
c.3257C>G (p.Pro1086Arg)
c.1577C>G (p.Pro526Arg)
Xg.108626345C>TCA413855111COL4A5c.3242C>T (p.Pro1081Leu)
n.2698C>T
c.475C>T
c.2918C>T (p.Pro973Leu)
c.815C>T (p.Pro272Leu)
c.3257C>T (p.Pro1086Leu)
c.1577C>T (p.Pro526Leu)
 COSMIC COSMIC
Xg.108626346A>CCA517926038COL4A5c.3243A>C (p.Pro1081=)
n.2699A>C
c.476A>C
c.2919A>C (p.Pro973=)
c.816A>C (p.Pro272=)
c.3258A>C (p.Pro1086=)
c.1578A>C (p.Pro526=)
Xg.108626346A>GCA517926039COL4A5c.3243A>G (p.Pro1081=)
n.2699A>G
c.476A>G
c.2919A>G (p.Pro973=)
c.816A>G (p.Pro272=)
c.3258A>G (p.Pro1086=)
c.1578A>G (p.Pro526=)
 ClinVar
Xg.108626346A>TCA517926040COL4A5c.3243A>T (p.Pro1081=)
n.2699A>T
c.476A>T
c.2919A>T (p.Pro973=)
c.816A>T (p.Pro272=)
c.3258A>T (p.Pro1086=)
c.1578A>T (p.Pro526=)
Xg.108626347A=CA2450697636COL4A5c.3244A= (p.Lys1082=)
n.2700A=
c.477A=
c.2920A= (p.Lys974=)
c.817A= (p.Lys273=)
c.3259A= (p.Lys1087=)
c.1579A= (p.Lys527=)
Xg.108626347A>CCA413855114COL4A5c.3244A>C (p.Lys1082Gln)
n.2700A>C
c.477A>C
c.2920A>C (p.Lys974Gln)
c.817A>C (p.Lys273Gln)
c.3259A>C (p.Lys1087Gln)
c.1579A>C (p.Lys527Gln)
Xg.108626347A>GCA413855115COL4A5c.3244A>G (p.Lys1082Glu)
n.2700A>G
c.477A>G
c.2920A>G (p.Lys974Glu)
c.817A>G (p.Lys273Glu)
c.3259A>G (p.Lys1087Glu)
c.1579A>G (p.Lys527Glu)
Xg.108626347A>TCA413855116COL4A5c.3244A>T (p.Lys1082Ter)
n.2700A>T
c.477A>T
c.2920A>T (p.Lys974Ter)
c.817A>T (p.Lys273Ter)
c.3259A>T (p.Lys1087Ter)
c.1579A>T (p.Lys527Ter)
 ClinVar dbSNP
Xg.108626348A>CCA413855117COL4A5c.3245A>C (p.Lys1082Thr)
n.2701A>C
c.478A>C
c.2921A>C (p.Lys974Thr)
c.818A>C (p.Lys273Thr)
c.3260A>C (p.Lys1087Thr)
c.1580A>C (p.Lys527Thr)
Xg.108626348A>GCA413855118COL4A5c.3245A>G (p.Lys1082Arg)
n.2701A>G
c.478A>G
c.2921A>G (p.Lys974Arg)
c.818A>G (p.Lys273Arg)
c.3260A>G (p.Lys1087Arg)
c.1580A>G (p.Lys527Arg)
Xg.108626348A>TCA413855119COL4A5c.3245A>T (p.Lys1082Met)
n.2701A>T
c.478A>T
c.2921A>T (p.Lys974Met)
c.818A>T (p.Lys273Met)
c.3260A>T (p.Lys1087Met)
c.1580A>T (p.Lys527Met)
Xg.108626349G>ACA517926042COL4A5c.3246G>A (p.Lys1082=)
n.2702G>A
c.479G>A
c.2922G>A (p.Lys974=)
c.819G>A (p.Lys273=)
c.3261G>A (p.Lys1087=)
c.1581G>A (p.Lys527=)
Xg.108626349G>CCA413855120COL4A5c.3246G>C (p.Lys1082Asn)
n.2702G>C
c.479G>C
c.2922G>C (p.Lys974Asn)
c.819G>C (p.Lys273Asn)
c.3261G>C (p.Lys1087Asn)
c.1581G>C (p.Lys527Asn)
Xg.108626349G>TCA413855121COL4A5c.3246G>T (p.Lys1082Asn)
n.2702G>T
c.479G>T
c.2922G>T (p.Lys974Asn)
c.819G>T (p.Lys273Asn)
c.3261G>T (p.Lys1087Asn)
c.1581G>T (p.Lys527Asn)
Xg.108626350G>ACA413855122COL4A5c.3246+1G>A (n.3246+1G>A)
n.2703G>A
c.479+1G>A
c.2922+1G>A (n.2922+1G>A)
c.819+1G>A (n.819+1G>A)
c.3261+1G>A (n.3261+1G>A)
c.1581+1G>A (n.1581+1G>A)
 ClinVar dbSNP
Xg.108626350G>CCA413855123COL4A5c.3246+1G>C (n.3246+1G>C)
n.2703G>C
c.479+1G>C
c.2922+1G>C (n.2922+1G>C)
c.819+1G>C (n.819+1G>C)
c.3261+1G>C (n.3261+1G>C)
c.1581+1G>C (n.1581+1G>C)
Xg.108626350G=CA2450697641COL4A5c.3246+1G= (n.3246+1G=)
n.2703G=
c.479+1G=
c.2922+1G= (n.2922+1G=)
c.819+1G= (n.819+1G=)
c.3261+1G= (n.3261+1G=)
c.1581+1G= (n.1581+1G=)
Xg.108626350G>TCA413855124COL4A5c.3246+1G>T (n.3246+1G>T)
n.2703G>T
c.479+1G>T
c.2922+1G>T (n.2922+1G>T)
c.819+1G>T (n.819+1G>T)
c.3261+1G>T (n.3261+1G>T)
c.1581+1G>T (n.1581+1G>T)
Xg.108626351T>ACA413855125COL4A5c.3246+2T>A (n.3246+2T>A)
n.2704T>A
c.479+2T>A
c.2922+2T>A (n.2922+2T>A)
c.819+2T>A (n.819+2T>A)
c.3261+2T>A (n.3261+2T>A)
c.1581+2T>A (n.1581+2T>A)
Xg.108626351T>CCA413855126COL4A5c.3246+2T>C (n.3246+2T>C)
n.2704T>C
c.479+2T>C
c.2922+2T>C (n.2922+2T>C)
c.819+2T>C (n.819+2T>C)
c.3261+2T>C (n.3261+2T>C)
c.1581+2T>C (n.1581+2T>C)
Xg.108626351T>GCA413855127COL4A5c.3246+2T>G (n.3246+2T>G)
n.2704T>G
c.479+2T>G
c.2922+2T>G (n.2922+2T>G)
c.819+2T>G (n.819+2T>G)
c.3261+2T>G (n.3261+2T>G)
c.1581+2T>G (n.1581+2T>G)
Xg.108626352A>CCA2573159108COL4A5c.3246+3A>C (n.3246+3A>C)
n.2705A>C
c.479+3A>C
c.2922+3A>C (n.2922+3A>C)
c.819+3A>C (n.819+3A>C)
c.3261+3A>C (n.3261+3A>C)
c.1581+3A>C (n.1581+3A>C)
 ClinVar dbSNP
Xg.108626354T>ACA2694440645COL4A5c.3246+5T>A (n.3246+5T>A)
n.2707T>A
c.479+5T>A
c.2922+5T>A (n.2922+5T>A)
c.819+5T>A (n.819+5T>A)
c.3261+5T>A (n.3261+5T>A)
c.1581+5T>A (n.1581+5T>A)
 gnomAD v4

Number of alleles fetched