Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108687510_108687545dupCA259023COL4A5c.4344_4379dup (p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4326_4361dup (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly)
n.838_873dup
c.140_175dup
c.4335_4370dup (p.Gly1457_Thr1458insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4020_4055dup (p.Gly1352_Thr1353insProAspGlyLeuGlnGlyProProGlyProProGly)
c.1917_1952dup (p.Gly651_Thr652insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4359_4394dup (p.Gly1465_Thr1466insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4350_4385dup (p.Gly1462_Thr1463insProAspGlyLeuGlnGlyProProGlyProProGly)
c.4341_4376dup (p.Gly1459_Thr1460insProAspGlyLeuGlnGlyProProGlyProProGly)
c.2679_2714dup (p.Gly905_Thr906insProAspGlyLeuGlnGlyProProGlyProProGly)
 dbSNP
Xg.108687507_108687534delinsTGGTCCAGATGGATTGCAAGGTCCCCCACA2450719217COL4A5c.4341_4368delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1447=)
c.4323_4350delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1441=)
n.835_862delinsTGGTCCAGATGGATTGCAAGGTCCCCCA
c.137_164delinsTGGTCCAGATGGATTGCAAGGTCCCCCA
c.4332_4359delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1444=)
c.4017_4044delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1339=)
c.1914_1941delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro638=)
c.4356_4383delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1452=)
c.4347_4374delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1449=)
c.4338_4365delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro1446=)
c.2676_2703delinsTGGTCCAGATGGATTGCAAGGTCCCCCA (p.Pro892=)
Xg.108687513_108687539delCA259030COL4A5c.4347_4373del (p.Asp1450_Pro1458del)
c.4329_4355del (p.Asp1444_Pro1452del)
n.841_867del
c.143_169del
c.4338_4364del (p.Asp1447_Pro1455del)
c.4023_4049del (p.Asp1342_Pro1350del)
c.1920_1946del (p.Asp641_Pro649del)
c.4362_4388del (p.Asp1455_Pro1463del)
c.4353_4379del (p.Asp1452_Pro1460del)
c.4344_4370del (p.Asp1449_Pro1457del)
c.2682_2708del (p.Asp895_Pro903del)
 dbSNP
Xg.108687526G>ACA259040COL4A5c.4360G>A (p.Gly1454Ser)
c.4342G>A (p.Gly1448Ser)
n.854G>A
c.156G>A
c.4351G>A (p.Gly1451Ser)
c.4036G>A (p.Gly1346Ser)
c.1933G>A (p.Gly645Ser)
c.4375G>A (p.Gly1459Ser)
c.4366G>A (p.Gly1456Ser)
c.4357G>A (p.Gly1453Ser)
c.2695G>A (p.Gly899Ser)
 ClinVar dbSNP
Xg.108687526G>CCA413854059COL4A5c.4360G>C (p.Gly1454Arg)
c.4342G>C (p.Gly1448Arg)
n.854G>C
c.156G>C
c.4351G>C (p.Gly1451Arg)
c.4036G>C (p.Gly1346Arg)
c.1933G>C (p.Gly645Arg)
c.4375G>C (p.Gly1459Arg)
c.4366G>C (p.Gly1456Arg)
c.4357G>C (p.Gly1453Arg)
c.2695G>C (p.Gly899Arg)
 ClinVar gnomAD v4
Xg.108687526G=CA2450719238COL4A5c.4360G= (p.Gly1454=)
c.4342G= (p.Gly1448=)
n.854G=
c.156G=
c.4351G= (p.Gly1451=)
c.4036G= (p.Gly1346=)
c.1933G= (p.Gly645=)
c.4375G= (p.Gly1459=)
c.4366G= (p.Gly1456=)
c.4357G= (p.Gly1453=)
c.2695G= (p.Gly899=)
Xg.108687526G>TCA413854062COL4A5c.4360G>T (p.Gly1454Cys)
c.4342G>T (p.Gly1448Cys)
n.854G>T
c.156G>T
c.4351G>T (p.Gly1451Cys)
c.4036G>T (p.Gly1346Cys)
c.1933G>T (p.Gly645Cys)
c.4375G>T (p.Gly1459Cys)
c.4366G>T (p.Gly1456Cys)
c.4357G>T (p.Gly1453Cys)
c.2695G>T (p.Gly899Cys)
Xg.108687526_108687527delinsAACA645617759COL4A5c.4360_4361delinsAA (p.Gly1454Asn)
c.4342_4343delinsAA (p.Gly1448Asn)
n.854_855delinsAA
c.156_157delinsAA
c.4351_4352delinsAA (p.Gly1451Asn)
c.4036_4037delinsAA (p.Gly1346Asn)
c.1933_1934delinsAA (p.Gly645Asn)
c.4375_4376delinsAA (p.Gly1459Asn)
c.4366_4367delinsAA (p.Gly1456Asn)
c.4357_4358delinsAA (p.Gly1453Asn)
c.2695_2696delinsAA (p.Gly899Asn)
 COSMIC COSMIC
Xg.108687527G>ACA413854063COL4A5c.4361G>A (p.Gly1454Asp)
c.4343G>A (p.Gly1448Asp)
n.855G>A
c.157G>A
c.4352G>A (p.Gly1451Asp)
c.4037G>A (p.Gly1346Asp)
c.1934G>A (p.Gly645Asp)
c.4376G>A (p.Gly1459Asp)
c.4367G>A (p.Gly1456Asp)
c.4358G>A (p.Gly1453Asp)
c.2696G>A (p.Gly899Asp)
Xg.108687527G>CCA413854065COL4A5c.4361G>C (p.Gly1454Ala)
c.4343G>C (p.Gly1448Ala)
n.855G>C
c.157G>C
c.4352G>C (p.Gly1451Ala)
c.4037G>C (p.Gly1346Ala)
c.1934G>C (p.Gly645Ala)
c.4376G>C (p.Gly1459Ala)
c.4367G>C (p.Gly1456Ala)
c.4358G>C (p.Gly1453Ala)
c.2696G>C (p.Gly899Ala)
Xg.108687527G=CA2450719241COL4A5c.4361G= (p.Gly1454=)
c.4343G= (p.Gly1448=)
n.855G=
c.157G=
c.4352G= (p.Gly1451=)
c.4037G= (p.Gly1346=)
c.1934G= (p.Gly645=)
c.4376G= (p.Gly1459=)
c.4367G= (p.Gly1456=)
c.4358G= (p.Gly1453=)
c.2696G= (p.Gly899=)
Xg.108687527G>TCA413854067COL4A5c.4361G>T (p.Gly1454Val)
c.4343G>T (p.Gly1448Val)
n.855G>T
c.157G>T
c.4352G>T (p.Gly1451Val)
c.4037G>T (p.Gly1346Val)
c.1934G>T (p.Gly645Val)
c.4376G>T (p.Gly1459Val)
c.4367G>T (p.Gly1456Val)
c.4358G>T (p.Gly1453Val)
c.2696G>T (p.Gly899Val)
Xg.108687528T>ACA517924470COL4A5c.4362T>A (p.Gly1454=)
c.4344T>A (p.Gly1448=)
n.856T>A
c.158T>A
c.4353T>A (p.Gly1451=)
c.4038T>A (p.Gly1346=)
c.1935T>A (p.Gly645=)
c.4377T>A (p.Gly1459=)
c.4368T>A (p.Gly1456=)
c.4359T>A (p.Gly1453=)
c.2697T>A (p.Gly899=)
Xg.108687528T>CCA517924472COL4A5c.4362T>C (p.Gly1454=)
c.4344T>C (p.Gly1448=)
n.856T>C
c.158T>C
c.4353T>C (p.Gly1451=)
c.4038T>C (p.Gly1346=)
c.1935T>C (p.Gly645=)
c.4377T>C (p.Gly1459=)
c.4368T>C (p.Gly1456=)
c.4359T>C (p.Gly1453=)
c.2697T>C (p.Gly899=)
Xg.108687528T>GCA517924471COL4A5c.4362T>G (p.Gly1454=)
c.4344T>G (p.Gly1448=)
n.856T>G
c.158T>G
c.4353T>G (p.Gly1451=)
c.4038T>G (p.Gly1346=)
c.1935T>G (p.Gly645=)
c.4377T>G (p.Gly1459=)
c.4368T>G (p.Gly1456=)
c.4359T>G (p.Gly1453=)
c.2697T>G (p.Gly899=)
Xg.108687528dupCA259044COL4A5c.4362dup (p.Pro1455SerfsTer?)
c.4344dup (p.Pro1449SerfsTer?)
n.856dup
c.158dup
c.4353dup (p.Pro1452SerfsTer?)
c.4038dup (p.Pro1347SerfsTer?)
c.1935dup (p.Pro646SerfsTer?)
c.4377dup (p.Pro1460SerfsTer?)
c.4368dup (p.Pro1457SerfsTer?)
c.4359dup (p.Pro1454SerfsTer?)
c.2697dup (p.Pro900SerfsTer?)
 dbSNP
Xg.108687528_108687529delinsTCCA2450719242COL4A5c.4362_4363delinsTC (p.Gly1454=)
c.4344_4345delinsTC (p.Gly1448=)
n.856_857delinsTC
c.158_159delinsTC
c.4353_4354delinsTC (p.Gly1451=)
c.4038_4039delinsTC (p.Gly1346=)
c.1935_1936delinsTC (p.Gly645=)
c.4377_4378delinsTC (p.Gly1459=)
c.4368_4369delinsTC (p.Gly1456=)
c.4359_4360delinsTC (p.Gly1453=)
c.2697_2698delinsTC (p.Gly899=)
Xg.108687529C>ACA413854074COL4A5c.4363C>A (p.Pro1455Thr)
c.4345C>A (p.Pro1449Thr)
n.857C>A
c.159C>A
c.4354C>A (p.Pro1452Thr)
c.4039C>A (p.Pro1347Thr)
c.1936C>A (p.Pro646Thr)
c.4378C>A (p.Pro1460Thr)
c.4369C>A (p.Pro1457Thr)
c.4360C>A (p.Pro1454Thr)
c.2698C>A (p.Pro900Thr)
Xg.108687529C>GCA413854070COL4A5c.4363C>G (p.Pro1455Ala)
c.4345C>G (p.Pro1449Ala)
n.857C>G
c.159C>G
c.4354C>G (p.Pro1452Ala)
c.4039C>G (p.Pro1347Ala)
c.1936C>G (p.Pro646Ala)
c.4378C>G (p.Pro1460Ala)
c.4369C>G (p.Pro1457Ala)
c.4360C>G (p.Pro1454Ala)
c.2698C>G (p.Pro900Ala)
Xg.108687529C>TCA413854072COL4A5c.4363C>T (p.Pro1455Ser)
c.4345C>T (p.Pro1449Ser)
n.857C>T
c.159C>T
c.4354C>T (p.Pro1452Ser)
c.4039C>T (p.Pro1347Ser)
c.1936C>T (p.Pro646Ser)
c.4378C>T (p.Pro1460Ser)
c.4369C>T (p.Pro1457Ser)
c.4360C>T (p.Pro1454Ser)
c.2698C>T (p.Pro900Ser)
 gnomAD v4
Xg.108687533delCA259045COL4A5c.4367del (p.Pro1456GlnfsTer?)
c.4349del (p.Pro1450GlnfsTer?)
n.861del
c.163del
c.4358del (p.Pro1453GlnfsTer?)
c.4043del (p.Pro1348GlnfsTer?)
c.1940del (p.Pro647GlnfsTer?)
c.4382del (p.Pro1461GlnfsTer?)
c.4373del (p.Pro1458GlnfsTer?)
c.4364del (p.Pro1455GlnfsTer?)
c.2702del (p.Pro901GlnfsTer?)
 dbSNP
Xg.108687530C>ACA413854076COL4A5c.4364C>A (p.Pro1455His)
c.4346C>A (p.Pro1449His)
n.858C>A
c.160C>A
c.4355C>A (p.Pro1452His)
c.4040C>A (p.Pro1347His)
c.1937C>A (p.Pro646His)
c.4379C>A (p.Pro1460His)
c.4370C>A (p.Pro1457His)
c.4361C>A (p.Pro1454His)
c.2699C>A (p.Pro900His)
Xg.108687530C=CA2450719244COL4A5c.4364C= (p.Pro1455=)
c.4346C= (p.Pro1449=)
n.858C=
c.160C=
c.4355C= (p.Pro1452=)
c.4040C= (p.Pro1347=)
c.1937C= (p.Pro646=)
c.4379C= (p.Pro1460=)
c.4370C= (p.Pro1457=)
c.4361C= (p.Pro1454=)
c.2699C= (p.Pro900=)
Xg.108687530C>GCA413854078COL4A5c.4364C>G (p.Pro1455Arg)
c.4346C>G (p.Pro1449Arg)
n.858C>G
c.160C>G
c.4355C>G (p.Pro1452Arg)
c.4040C>G (p.Pro1347Arg)
c.1937C>G (p.Pro646Arg)
c.4379C>G (p.Pro1460Arg)
c.4370C>G (p.Pro1457Arg)
c.4361C>G (p.Pro1454Arg)
c.2699C>G (p.Pro900Arg)
Xg.108687530C>TCA413854080COL4A5c.4364C>T (p.Pro1455Leu)
c.4346C>T (p.Pro1449Leu)
n.858C>T
c.160C>T
c.4355C>T (p.Pro1452Leu)
c.4040C>T (p.Pro1347Leu)
c.1937C>T (p.Pro646Leu)
c.4379C>T (p.Pro1460Leu)
c.4370C>T (p.Pro1457Leu)
c.4361C>T (p.Pro1454Leu)
c.2699C>T (p.Pro900Leu)
 ClinVar dbSNP gnomAD v2
Xg.108687531C>ACA517924478COL4A5c.4365C>A (p.Pro1455=)
c.4347C>A (p.Pro1449=)
n.859C>A
c.161C>A
c.4356C>A (p.Pro1452=)
c.4041C>A (p.Pro1347=)
c.1938C>A (p.Pro646=)
c.4380C>A (p.Pro1460=)
c.4371C>A (p.Pro1457=)
c.4362C>A (p.Pro1454=)
c.2700C>A (p.Pro900=)
Xg.108687531C>GCA517924479COL4A5c.4365C>G (p.Pro1455=)
c.4347C>G (p.Pro1449=)
n.859C>G
c.161C>G
c.4356C>G (p.Pro1452=)
c.4041C>G (p.Pro1347=)
c.1938C>G (p.Pro646=)
c.4380C>G (p.Pro1460=)
c.4371C>G (p.Pro1457=)
c.4362C>G (p.Pro1454=)
c.2700C>G (p.Pro900=)
Xg.108687531C>TCA517924480COL4A5c.4365C>T (p.Pro1455=)
c.4347C>T (p.Pro1449=)
n.859C>T
c.161C>T
c.4356C>T (p.Pro1452=)
c.4041C>T (p.Pro1347=)
c.1938C>T (p.Pro646=)
c.4380C>T (p.Pro1460=)
c.4371C>T (p.Pro1457=)
c.4362C>T (p.Pro1454=)
c.2700C>T (p.Pro900=)
Xg.108687532C>ACA413854081COL4A5c.4366C>A (p.Pro1456Thr)
c.4348C>A (p.Pro1450Thr)
n.860C>A
c.162C>A
c.4357C>A (p.Pro1453Thr)
c.4042C>A (p.Pro1348Thr)
c.1939C>A (p.Pro647Thr)
c.4381C>A (p.Pro1461Thr)
c.4372C>A (p.Pro1458Thr)
c.4363C>A (p.Pro1455Thr)
c.2701C>A (p.Pro901Thr)
Xg.108687532C>GCA413854083COL4A5c.4366C>G (p.Pro1456Ala)
c.4348C>G (p.Pro1450Ala)
n.860C>G
c.162C>G
c.4357C>G (p.Pro1453Ala)
c.4042C>G (p.Pro1348Ala)
c.1939C>G (p.Pro647Ala)
c.4381C>G (p.Pro1461Ala)
c.4372C>G (p.Pro1458Ala)
c.4363C>G (p.Pro1455Ala)
c.2701C>G (p.Pro901Ala)
 COSMIC COSMIC
Xg.108687532C>TCA413854085COL4A5c.4366C>T (p.Pro1456Ser)
c.4348C>T (p.Pro1450Ser)
n.860C>T
c.162C>T
c.4357C>T (p.Pro1453Ser)
c.4042C>T (p.Pro1348Ser)
c.1939C>T (p.Pro647Ser)
c.4381C>T (p.Pro1461Ser)
c.4372C>T (p.Pro1458Ser)
c.4363C>T (p.Pro1455Ser)
c.2701C>T (p.Pro901Ser)
Xg.108687533C>ACA413854090COL4A5c.4367C>A (p.Pro1456Gln)
c.4349C>A (p.Pro1450Gln)
n.861C>A
c.163C>A
c.4358C>A (p.Pro1453Gln)
c.4043C>A (p.Pro1348Gln)
c.1940C>A (p.Pro647Gln)
c.4382C>A (p.Pro1461Gln)
c.4373C>A (p.Pro1458Gln)
c.4364C>A (p.Pro1455Gln)
c.2702C>A (p.Pro901Gln)
Xg.108687533C>GCA413854089COL4A5c.4367C>G (p.Pro1456Arg)
c.4349C>G (p.Pro1450Arg)
n.861C>G
c.163C>G
c.4358C>G (p.Pro1453Arg)
c.4043C>G (p.Pro1348Arg)
c.1940C>G (p.Pro647Arg)
c.4382C>G (p.Pro1461Arg)
c.4373C>G (p.Pro1458Arg)
c.4364C>G (p.Pro1455Arg)
c.2702C>G (p.Pro901Arg)
 gnomAD v4
Xg.108687533C>TCA413854087COL4A5c.4367C>T (p.Pro1456Leu)
c.4349C>T (p.Pro1450Leu)
n.861C>T
c.163C>T
c.4358C>T (p.Pro1453Leu)
c.4043C>T (p.Pro1348Leu)
c.1940C>T (p.Pro647Leu)
c.4382C>T (p.Pro1461Leu)
c.4373C>T (p.Pro1458Leu)
c.4364C>T (p.Pro1455Leu)
c.2702C>T (p.Pro901Leu)
Xg.108687534A>CCA517924486COL4A5c.4368A>C (p.Pro1456=)
c.4350A>C (p.Pro1450=)
n.862A>C
c.164A>C
c.4359A>C (p.Pro1453=)
c.4044A>C (p.Pro1348=)
c.1941A>C (p.Pro647=)
c.4383A>C (p.Pro1461=)
c.4374A>C (p.Pro1458=)
c.4365A>C (p.Pro1455=)
c.2703A>C (p.Pro901=)
 ClinVar dbSNP
Xg.108687534A>GCA517924487COL4A5c.4368A>G (p.Pro1456=)
c.4350A>G (p.Pro1450=)
n.862A>G
c.164A>G
c.4359A>G (p.Pro1453=)
c.4044A>G (p.Pro1348=)
c.1941A>G (p.Pro647=)
c.4383A>G (p.Pro1461=)
c.4374A>G (p.Pro1458=)
c.4365A>G (p.Pro1455=)
c.2703A>G (p.Pro901=)
Xg.108687534A>TCA517924488COL4A5c.4368A>T (p.Pro1456=)
c.4350A>T (p.Pro1450=)
n.862A>T
c.164A>T
c.4359A>T (p.Pro1453=)
c.4044A>T (p.Pro1348=)
c.1941A>T (p.Pro647=)
c.4383A>T (p.Pro1461=)
c.4374A>T (p.Pro1458=)
c.4365A>T (p.Pro1455=)
c.2703A>T (p.Pro901=)
 gnomAD v4
Xg.108687535G>ACA259033COL4A5c.4369G>A (p.Gly1457Ser)
c.4351G>A (p.Gly1451Ser)
n.863G>A
c.165G>A
c.4360G>A (p.Gly1454Ser)
c.4045G>A (p.Gly1349Ser)
c.1942G>A (p.Gly648Ser)
c.4384G>A (p.Gly1462Ser)
c.4375G>A (p.Gly1459Ser)
c.4366G>A (p.Gly1456Ser)
c.2704G>A (p.Gly902Ser)
 ClinVar dbSNP
Xg.108687535G>CCA413854092COL4A5c.4369G>C (p.Gly1457Arg)
c.4351G>C (p.Gly1451Arg)
n.863G>C
c.165G>C
c.4360G>C (p.Gly1454Arg)
c.4045G>C (p.Gly1349Arg)
c.1942G>C (p.Gly648Arg)
c.4384G>C (p.Gly1462Arg)
c.4375G>C (p.Gly1459Arg)
c.4366G>C (p.Gly1456Arg)
c.2704G>C (p.Gly902Arg)
Xg.108687535G=CA2450719245COL4A5c.4369G= (p.Gly1457=)
c.4351G= (p.Gly1451=)
n.863G=
c.165G=
c.4360G= (p.Gly1454=)
c.4045G= (p.Gly1349=)
c.1942G= (p.Gly648=)
c.4384G= (p.Gly1462=)
c.4375G= (p.Gly1459=)
c.4366G= (p.Gly1456=)
c.2704G= (p.Gly902=)
Xg.108687535G>TCA413854094COL4A5c.4369G>T (p.Gly1457Cys)
c.4351G>T (p.Gly1451Cys)
n.863G>T
c.165G>T
c.4360G>T (p.Gly1454Cys)
c.4045G>T (p.Gly1349Cys)
c.1942G>T (p.Gly648Cys)
c.4384G>T (p.Gly1462Cys)
c.4375G>T (p.Gly1459Cys)
c.4366G>T (p.Gly1456Cys)
c.2704G>T (p.Gly902Cys)
Xg.108687536G>ACA413854096COL4A5c.4370G>A (p.Gly1457Asp)
c.4352G>A (p.Gly1451Asp)
n.864G>A
c.166G>A
c.4361G>A (p.Gly1454Asp)
c.4046G>A (p.Gly1349Asp)
c.1943G>A (p.Gly648Asp)
c.4385G>A (p.Gly1462Asp)
c.4376G>A (p.Gly1459Asp)
c.4367G>A (p.Gly1456Asp)
c.2705G>A (p.Gly902Asp)
 gnomAD v4
Xg.108687536G>CCA413854097COL4A5c.4370G>C (p.Gly1457Ala)
c.4352G>C (p.Gly1451Ala)
n.864G>C
c.166G>C
c.4361G>C (p.Gly1454Ala)
c.4046G>C (p.Gly1349Ala)
c.1943G>C (p.Gly648Ala)
c.4385G>C (p.Gly1462Ala)
c.4376G>C (p.Gly1459Ala)
c.4367G>C (p.Gly1456Ala)
c.2705G>C (p.Gly902Ala)
Xg.108687536G=CA2450719248COL4A5c.4370G= (p.Gly1457=)
c.4352G= (p.Gly1451=)
n.864G=
c.166G=
c.4361G= (p.Gly1454=)
c.4046G= (p.Gly1349=)
c.1943G= (p.Gly648=)
c.4385G= (p.Gly1462=)
c.4376G= (p.Gly1459=)
c.4367G= (p.Gly1456=)
c.2705G= (p.Gly902=)
Xg.108687536G>TCA413854099COL4A5c.4370G>T (p.Gly1457Val)
c.4352G>T (p.Gly1451Val)
n.864G>T
c.166G>T
c.4361G>T (p.Gly1454Val)
c.4046G>T (p.Gly1349Val)
c.1943G>T (p.Gly648Val)
c.4385G>T (p.Gly1462Val)
c.4376G>T (p.Gly1459Val)
c.4367G>T (p.Gly1456Val)
c.2705G>T (p.Gly902Val)
Xg.108687537T>ACA517924495COL4A5c.4371T>A (p.Gly1457=)
c.4353T>A (p.Gly1451=)
n.865T>A
c.167T>A
c.4362T>A (p.Gly1454=)
c.4047T>A (p.Gly1349=)
c.1944T>A (p.Gly648=)
c.4386T>A (p.Gly1462=)
c.4377T>A (p.Gly1459=)
c.4368T>A (p.Gly1456=)
c.2706T>A (p.Gly902=)
Xg.108687537T>CCA517924496COL4A5c.4371T>C (p.Gly1457=)
c.4353T>C (p.Gly1451=)
n.865T>C
c.167T>C
c.4362T>C (p.Gly1454=)
c.4047T>C (p.Gly1349=)
c.1944T>C (p.Gly648=)
c.4386T>C (p.Gly1462=)
c.4377T>C (p.Gly1459=)
c.4368T>C (p.Gly1456=)
c.2706T>C (p.Gly902=)
 gnomAD v4
Xg.108687537T>GCA517924497COL4A5c.4371T>G (p.Gly1457=)
c.4353T>G (p.Gly1451=)
n.865T>G
c.167T>G
c.4362T>G (p.Gly1454=)
c.4047T>G (p.Gly1349=)
c.1944T>G (p.Gly648=)
c.4386T>G (p.Gly1462=)
c.4377T>G (p.Gly1459=)
c.4368T>G (p.Gly1456=)
c.2706T>G (p.Gly902=)
 ClinVar gnomAD v4
Xg.108687537T=CA2450719249COL4A5c.4371T= (p.Gly1457=)
c.4353T= (p.Gly1451=)
n.865T=
c.167T=
c.4362T= (p.Gly1454=)
c.4047T= (p.Gly1349=)
c.1944T= (p.Gly648=)
c.4386T= (p.Gly1462=)
c.4377T= (p.Gly1459=)
c.4368T= (p.Gly1456=)
c.2706T= (p.Gly902=)
Xg.108687538C>ACA413854101COL4A5c.4372C>A (p.Pro1458Thr)
c.4354C>A (p.Pro1452Thr)
n.866C>A
c.168C>A
c.4363C>A (p.Pro1455Thr)
c.4048C>A (p.Pro1350Thr)
c.1945C>A (p.Pro649Thr)
c.4387C>A (p.Pro1463Thr)
c.4378C>A (p.Pro1460Thr)
c.4369C>A (p.Pro1457Thr)
c.2707C>A (p.Pro903Thr)
Xg.108687538C=CA2450719252COL4A5c.4372C= (p.Pro1458=)
c.4354C= (p.Pro1452=)
n.866C=
c.168C=
c.4363C= (p.Pro1455=)
c.4048C= (p.Pro1350=)
c.1945C= (p.Pro649=)
c.4387C= (p.Pro1463=)
c.4378C= (p.Pro1460=)
c.4369C= (p.Pro1457=)
c.2707C= (p.Pro903=)
Xg.108687538C>GCA413854103COL4A5c.4372C>G (p.Pro1458Ala)
c.4354C>G (p.Pro1452Ala)
n.866C>G
c.168C>G
c.4363C>G (p.Pro1455Ala)
c.4048C>G (p.Pro1350Ala)
c.1945C>G (p.Pro649Ala)
c.4387C>G (p.Pro1463Ala)
c.4378C>G (p.Pro1460Ala)
c.4369C>G (p.Pro1457Ala)
c.2707C>G (p.Pro903Ala)
Xg.108687538C>TCA413854102COL4A5c.4372C>T (p.Pro1458Ser)
c.4354C>T (p.Pro1452Ser)
n.866C>T
c.168C>T
c.4363C>T (p.Pro1455Ser)
c.4048C>T (p.Pro1350Ser)
c.1945C>T (p.Pro649Ser)
c.4387C>T (p.Pro1463Ser)
c.4378C>T (p.Pro1460Ser)
c.4369C>T (p.Pro1457Ser)
c.2707C>T (p.Pro903Ser)
 ClinVar dbSNP gnomAD v4
Xg.108687542dupCA2450719251COL4A5c.4376dup (p.Gly1460TrpfsTer?)
c.4358dup (p.Gly1454TrpfsTer?)
n.870dup
c.172dup
c.4367dup (p.Gly1457TrpfsTer?)
c.4052dup (p.Gly1352TrpfsTer?)
c.1949dup (p.Gly651TrpfsTer?)
c.4391dup (p.Gly1465TrpfsTer?)
c.4382dup (p.Gly1462TrpfsTer?)
c.4373dup (p.Gly1459TrpfsTer?)
c.2711dup (p.Gly905TrpfsTer?)
 ClinVar dbSNP
Xg.108687542delCA2579677161COL4A5c.4376del (p.Pro1459LeufsTer?)
c.4358del (p.Pro1453LeufsTer?)
n.870del
c.172del
c.4367del (p.Pro1456LeufsTer?)
c.4052del (p.Pro1351LeufsTer?)
c.1949del (p.Pro650LeufsTer?)
c.4391del (p.Pro1464LeufsTer?)
c.4382del (p.Pro1461LeufsTer?)
c.4373del (p.Pro1458LeufsTer?)
c.2711del (p.Pro904LeufsTer?)
Xg.108687539C>ACA413854104COL4A5c.4373C>A (p.Pro1458His)
c.4355C>A (p.Pro1452His)
n.867C>A
c.169C>A
c.4364C>A (p.Pro1455His)
c.4049C>A (p.Pro1350His)
c.1946C>A (p.Pro649His)
c.4388C>A (p.Pro1463His)
c.4379C>A (p.Pro1460His)
c.4370C>A (p.Pro1457His)
c.2708C>A (p.Pro903His)
Xg.108687539C>GCA413854105COL4A5c.4373C>G (p.Pro1458Arg)
c.4355C>G (p.Pro1452Arg)
n.867C>G
c.169C>G
c.4364C>G (p.Pro1455Arg)
c.4049C>G (p.Pro1350Arg)
c.1946C>G (p.Pro649Arg)
c.4388C>G (p.Pro1463Arg)
c.4379C>G (p.Pro1460Arg)
c.4370C>G (p.Pro1457Arg)
c.2708C>G (p.Pro903Arg)
Xg.108687539C>TCA413854106COL4A5c.4373C>T (p.Pro1458Leu)
c.4355C>T (p.Pro1452Leu)
n.867C>T
c.169C>T
c.4364C>T (p.Pro1455Leu)
c.4049C>T (p.Pro1350Leu)
c.1946C>T (p.Pro649Leu)
c.4388C>T (p.Pro1463Leu)
c.4379C>T (p.Pro1460Leu)
c.4370C>T (p.Pro1457Leu)
c.2708C>T (p.Pro903Leu)
 gnomAD v4
Xg.108687540C>ACA517924504COL4A5c.4374C>A (p.Pro1458=)
c.4356C>A (p.Pro1452=)
n.868C>A
c.170C>A
c.4365C>A (p.Pro1455=)
c.4050C>A (p.Pro1350=)
c.1947C>A (p.Pro649=)
c.4389C>A (p.Pro1463=)
c.4380C>A (p.Pro1460=)
c.4371C>A (p.Pro1457=)
c.2709C>A (p.Pro903=)
Xg.108687540C>GCA517924508COL4A5c.4374C>G (p.Pro1458=)
c.4356C>G (p.Pro1452=)
n.868C>G
c.170C>G
c.4365C>G (p.Pro1455=)
c.4050C>G (p.Pro1350=)
c.1947C>G (p.Pro649=)
c.4389C>G (p.Pro1463=)
c.4380C>G (p.Pro1460=)
c.4371C>G (p.Pro1457=)
c.2709C>G (p.Pro903=)
Xg.108687540C>TCA517924505COL4A5c.4374C>T (p.Pro1458=)
c.4356C>T (p.Pro1452=)
n.868C>T
c.170C>T
c.4365C>T (p.Pro1455=)
c.4050C>T (p.Pro1350=)
c.1947C>T (p.Pro649=)
c.4389C>T (p.Pro1463=)
c.4380C>T (p.Pro1460=)
c.4371C>T (p.Pro1457=)
c.2709C>T (p.Pro903=)
 ClinVar dbSNP
Xg.108687541C>ACA413854107COL4A5c.4375C>A (p.Pro1459Thr)
c.4357C>A (p.Pro1453Thr)
n.869C>A
c.171C>A
c.4366C>A (p.Pro1456Thr)
c.4051C>A (p.Pro1351Thr)
c.1948C>A (p.Pro650Thr)
c.4390C>A (p.Pro1464Thr)
c.4381C>A (p.Pro1461Thr)
c.4372C>A (p.Pro1458Thr)
c.2710C>A (p.Pro904Thr)
 COSMIC COSMIC
Xg.108687541C>GCA413854108COL4A5c.4375C>G (p.Pro1459Ala)
c.4357C>G (p.Pro1453Ala)
n.869C>G
c.171C>G
c.4366C>G (p.Pro1456Ala)
c.4051C>G (p.Pro1351Ala)
c.1948C>G (p.Pro650Ala)
c.4390C>G (p.Pro1464Ala)
c.4381C>G (p.Pro1461Ala)
c.4372C>G (p.Pro1458Ala)
c.2710C>G (p.Pro904Ala)
Xg.108687541C>TCA413854109COL4A5c.4375C>T (p.Pro1459Ser)
c.4357C>T (p.Pro1453Ser)
n.869C>T
c.171C>T
c.4366C>T (p.Pro1456Ser)
c.4051C>T (p.Pro1351Ser)
c.1948C>T (p.Pro650Ser)
c.4390C>T (p.Pro1464Ser)
c.4381C>T (p.Pro1461Ser)
c.4372C>T (p.Pro1458Ser)
c.2710C>T (p.Pro904Ser)
Xg.108687542C>ACA413854111COL4A5c.4376C>A (p.Pro1459His)
c.4358C>A (p.Pro1453His)
n.870C>A
c.172C>A
c.4367C>A (p.Pro1456His)
c.4052C>A (p.Pro1351His)
c.1949C>A (p.Pro650His)
c.4391C>A (p.Pro1464His)
c.4382C>A (p.Pro1461His)
c.4373C>A (p.Pro1458His)
c.2711C>A (p.Pro904His)
Xg.108687542C>GCA413854112COL4A5c.4376C>G (p.Pro1459Arg)
c.4358C>G (p.Pro1453Arg)
n.870C>G
c.172C>G
c.4367C>G (p.Pro1456Arg)
c.4052C>G (p.Pro1351Arg)
c.1949C>G (p.Pro650Arg)
c.4391C>G (p.Pro1464Arg)
c.4382C>G (p.Pro1461Arg)
c.4373C>G (p.Pro1458Arg)
c.2711C>G (p.Pro904Arg)
Xg.108687542C>TCA413854115COL4A5c.4376C>T (p.Pro1459Leu)
c.4358C>T (p.Pro1453Leu)
n.870C>T
c.172C>T
c.4367C>T (p.Pro1456Leu)
c.4052C>T (p.Pro1351Leu)
c.1949C>T (p.Pro650Leu)
c.4391C>T (p.Pro1464Leu)
c.4382C>T (p.Pro1461Leu)
c.4373C>T (p.Pro1458Leu)
c.2711C>T (p.Pro904Leu)
Xg.108687542_108687543delinsCTCA2450719253COL4A5c.4376_4377delinsCT (p.Pro1459=)
c.4358_4359delinsCT (p.Pro1453=)
n.870_871delinsCT
c.172_173delinsCT
c.4367_4368delinsCT (p.Pro1456=)
c.4052_4053delinsCT (p.Pro1351=)
c.1949_1950delinsCT (p.Pro650=)
c.4391_4392delinsCT (p.Pro1464=)
c.4382_4383delinsCT (p.Pro1461=)
c.4373_4374delinsCT (p.Pro1458=)
c.2711_2712delinsCT (p.Pro904=)
Xg.108687543delCA915951311COL4A5c.4377del (p.Gly1460GlufsTer?)
c.4359del (p.Gly1454GlufsTer?)
n.871del
c.173del
c.4368del (p.Gly1457GlufsTer?)
c.4053del (p.Gly1352GlufsTer?)
c.1950del (p.Gly651GlufsTer?)
c.4392del (p.Gly1465GlufsTer?)
c.4383del (p.Gly1462GlufsTer?)
c.4374del (p.Gly1459GlufsTer?)
c.2712del (p.Gly905GlufsTer?)
 ClinVar dbSNP
Xg.108687543T>ACA517924513COL4A5c.4377T>A (p.Pro1459=)
c.4359T>A (p.Pro1453=)
n.871T>A
c.173T>A
c.4368T>A (p.Pro1456=)
c.4053T>A (p.Pro1351=)
c.1950T>A (p.Pro650=)
c.4392T>A (p.Pro1464=)
c.4383T>A (p.Pro1461=)
c.4374T>A (p.Pro1458=)
c.2712T>A (p.Pro904=)
 COSMIC COSMIC
Xg.108687543T>CCA517924515COL4A5c.4377T>C (p.Pro1459=)
c.4359T>C (p.Pro1453=)
n.871T>C
c.173T>C
c.4368T>C (p.Pro1456=)
c.4053T>C (p.Pro1351=)
c.1950T>C (p.Pro650=)
c.4392T>C (p.Pro1464=)
c.4383T>C (p.Pro1461=)
c.4374T>C (p.Pro1458=)
c.2712T>C (p.Pro904=)
Xg.108687543T>GCA517924516COL4A5c.4377T>G (p.Pro1459=)
c.4359T>G (p.Pro1453=)
n.871T>G
c.173T>G
c.4368T>G (p.Pro1456=)
c.4053T>G (p.Pro1351=)
c.1950T>G (p.Pro650=)
c.4392T>G (p.Pro1464=)
c.4383T>G (p.Pro1461=)
c.4374T>G (p.Pro1458=)
c.2712T>G (p.Pro904=)
Xg.108687544G>ACA413854117COL4A5c.4378G>A (p.Gly1460Arg)
c.4360G>A (p.Gly1454Arg)
n.872G>A
c.174G>A
c.4369G>A (p.Gly1457Arg)
c.4054G>A (p.Gly1352Arg)
c.1951G>A (p.Gly651Arg)
c.4393G>A (p.Gly1465Arg)
c.4384G>A (p.Gly1462Arg)
c.4375G>A (p.Gly1459Arg)
c.2713G>A (p.Gly905Arg)
Xg.108687544G>CCA413854118COL4A5c.4378G>C (p.Gly1460Arg)
c.4360G>C (p.Gly1454Arg)
n.872G>C
c.174G>C
c.4369G>C (p.Gly1457Arg)
c.4054G>C (p.Gly1352Arg)
c.1951G>C (p.Gly651Arg)
c.4393G>C (p.Gly1465Arg)
c.4384G>C (p.Gly1462Arg)
c.4375G>C (p.Gly1459Arg)
c.2713G>C (p.Gly905Arg)
Xg.108687544G>TCA413854119COL4A5c.4378G>T (p.Gly1460Ter)
c.4360G>T (p.Gly1454Ter)
n.872G>T
c.174G>T
c.4369G>T (p.Gly1457Ter)
c.4054G>T (p.Gly1352Ter)
c.1951G>T (p.Gly651Ter)
c.4393G>T (p.Gly1465Ter)
c.4384G>T (p.Gly1462Ter)
c.4375G>T (p.Gly1459Ter)
c.2713G>T (p.Gly905Ter)
Xg.108687544_108687545insACA2580100168COL4A5c.4378_4379insA (p.Gly1460GlufsTer?)
c.4360_4361insA (p.Gly1454GlufsTer?)
n.872_873insA
c.174_175insA
c.4369_4370insA (p.Gly1457GlufsTer?)
c.4054_4055insA (p.Gly1352GlufsTer?)
c.1951_1952insA (p.Gly651GlufsTer?)
c.4393_4394insA (p.Gly1465GlufsTer?)
c.4384_4385insA (p.Gly1462GlufsTer?)
c.4375_4376insA (p.Gly1459GlufsTer?)
c.2713_2714insA (p.Gly905GlufsTer?)
 ClinVar
Xg.108687545G>ACA413854120COL4A5c.4379G>A (p.Gly1460Glu)
c.4361G>A (p.Gly1454Glu)
n.873G>A
c.175G>A
c.4370G>A (p.Gly1457Glu)
c.4055G>A (p.Gly1352Glu)
c.1952G>A (p.Gly651Glu)
c.4394G>A (p.Gly1465Glu)
c.4385G>A (p.Gly1462Glu)
c.4376G>A (p.Gly1459Glu)
c.2714G>A (p.Gly905Glu)
 gnomAD v4
Xg.108687545G>CCA413854122COL4A5c.4379G>C (p.Gly1460Ala)
c.4361G>C (p.Gly1454Ala)
n.873G>C
c.175G>C
c.4370G>C (p.Gly1457Ala)
c.4055G>C (p.Gly1352Ala)
c.1952G>C (p.Gly651Ala)
c.4394G>C (p.Gly1465Ala)
c.4385G>C (p.Gly1462Ala)
c.4376G>C (p.Gly1459Ala)
c.2714G>C (p.Gly905Ala)
Xg.108687545G>TCA413854121COL4A5c.4379G>T (p.Gly1460Val)
c.4361G>T (p.Gly1454Val)
n.873G>T
c.175G>T
c.4370G>T (p.Gly1457Val)
c.4055G>T (p.Gly1352Val)
c.1952G>T (p.Gly651Val)
c.4394G>T (p.Gly1465Val)
c.4385G>T (p.Gly1462Val)
c.4376G>T (p.Gly1459Val)
c.2714G>T (p.Gly905Val)
Xg.108687546A>CCA517924521COL4A5c.4380A>C (p.Gly1460=)
c.4362A>C (p.Gly1454=)
n.874A>C
c.176A>C
c.4371A>C (p.Gly1457=)
c.4056A>C (p.Gly1352=)
c.1953A>C (p.Gly651=)
c.4395A>C (p.Gly1465=)
c.4386A>C (p.Gly1462=)
c.4377A>C (p.Gly1459=)
c.2715A>C (p.Gly905=)
 gnomAD v4
Xg.108687546A>GCA517924522COL4A5c.4380A>G (p.Gly1460=)
c.4362A>G (p.Gly1454=)
n.874A>G
c.176A>G
c.4371A>G (p.Gly1457=)
c.4056A>G (p.Gly1352=)
c.1953A>G (p.Gly651=)
c.4395A>G (p.Gly1465=)
c.4386A>G (p.Gly1462=)
c.4377A>G (p.Gly1459=)
c.2715A>G (p.Gly905=)
Xg.108687546A>TCA517924523COL4A5c.4380A>T (p.Gly1460=)
c.4362A>T (p.Gly1454=)
n.874A>T
c.176A>T
c.4371A>T (p.Gly1457=)
c.4056A>T (p.Gly1352=)
c.1953A>T (p.Gly651=)
c.4395A>T (p.Gly1465=)
c.4386A>T (p.Gly1462=)
c.4377A>T (p.Gly1459=)
c.2715A>T (p.Gly905=)
Xg.108687547A>CCA413854124COL4A5c.4381A>C (p.Thr1461Pro)
c.4363A>C (p.Thr1455Pro)
n.875A>C
c.177A>C
c.4372A>C (p.Thr1458Pro)
c.4057A>C (p.Thr1353Pro)
c.1954A>C (p.Thr652Pro)
c.4396A>C (p.Thr1466Pro)
c.4387A>C (p.Thr1463Pro)
c.4378A>C (p.Thr1460Pro)
c.2716A>C (p.Thr906Pro)
Xg.108687547A>GCA413854129COL4A5c.4381A>G (p.Thr1461Ala)
c.4363A>G (p.Thr1455Ala)
n.875A>G
c.177A>G
c.4372A>G (p.Thr1458Ala)
c.4057A>G (p.Thr1353Ala)
c.1954A>G (p.Thr652Ala)
c.4396A>G (p.Thr1466Ala)
c.4387A>G (p.Thr1463Ala)
c.4378A>G (p.Thr1460Ala)
c.2716A>G (p.Thr906Ala)
Xg.108687547A>TCA413854131COL4A5c.4381A>T (p.Thr1461Ser)
c.4363A>T (p.Thr1455Ser)
n.875A>T
c.177A>T
c.4372A>T (p.Thr1458Ser)
c.4057A>T (p.Thr1353Ser)
c.1954A>T (p.Thr652Ser)
c.4396A>T (p.Thr1466Ser)
c.4387A>T (p.Thr1463Ser)
c.4378A>T (p.Thr1460Ser)
c.2716A>T (p.Thr906Ser)
Xg.108687548C>ACA413854133COL4A5c.4382C>A (p.Thr1461Asn)
c.4364C>A (p.Thr1455Asn)
n.876C>A
c.178C>A
c.4373C>A (p.Thr1458Asn)
c.4058C>A (p.Thr1353Asn)
c.1955C>A (p.Thr652Asn)
c.4397C>A (p.Thr1466Asn)
c.4388C>A (p.Thr1463Asn)
c.4379C>A (p.Thr1460Asn)
c.2717C>A (p.Thr906Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687548C=CA2450719255COL4A5c.4382C= (p.Thr1461=)
c.4364C= (p.Thr1455=)
n.876C=
c.178C=
c.4373C= (p.Thr1458=)
c.4058C= (p.Thr1353=)
c.1955C= (p.Thr652=)
c.4397C= (p.Thr1466=)
c.4388C= (p.Thr1463=)
c.4379C= (p.Thr1460=)
c.2717C= (p.Thr906=)
Xg.108687548C>GCA413854135COL4A5c.4382C>G (p.Thr1461Ser)
c.4364C>G (p.Thr1455Ser)
n.876C>G
c.178C>G
c.4373C>G (p.Thr1458Ser)
c.4058C>G (p.Thr1353Ser)
c.1955C>G (p.Thr652Ser)
c.4397C>G (p.Thr1466Ser)
c.4388C>G (p.Thr1463Ser)
c.4379C>G (p.Thr1460Ser)
c.2717C>G (p.Thr906Ser)
Xg.108687548C>TCA413854138COL4A5c.4382C>T (p.Thr1461Ile)
c.4364C>T (p.Thr1455Ile)
n.876C>T
c.178C>T
c.4373C>T (p.Thr1458Ile)
c.4058C>T (p.Thr1353Ile)
c.1955C>T (p.Thr652Ile)
c.4397C>T (p.Thr1466Ile)
c.4388C>T (p.Thr1463Ile)
c.4379C>T (p.Thr1460Ile)
c.2717C>T (p.Thr906Ile)
Xg.108687549C>ACA517924525COL4A5c.4383C>A (p.Thr1461=)
c.4365C>A (p.Thr1455=)
n.877C>A
c.179C>A
c.4374C>A (p.Thr1458=)
c.4059C>A (p.Thr1353=)
c.1956C>A (p.Thr652=)
c.4398C>A (p.Thr1466=)
c.4389C>A (p.Thr1463=)
c.4380C>A (p.Thr1460=)
c.2718C>A (p.Thr906=)
Xg.108687549C>GCA517924526COL4A5c.4383C>G (p.Thr1461=)
c.4365C>G (p.Thr1455=)
n.877C>G
c.179C>G
c.4374C>G (p.Thr1458=)
c.4059C>G (p.Thr1353=)
c.1956C>G (p.Thr652=)
c.4398C>G (p.Thr1466=)
c.4389C>G (p.Thr1463=)
c.4380C>G (p.Thr1460=)
c.2718C>G (p.Thr906=)
Xg.108687549C>TCA517924527COL4A5c.4383C>T (p.Thr1461=)
c.4365C>T (p.Thr1455=)
n.877C>T
c.179C>T
c.4374C>T (p.Thr1458=)
c.4059C>T (p.Thr1353=)
c.1956C>T (p.Thr652=)
c.4398C>T (p.Thr1466=)
c.4389C>T (p.Thr1463=)
c.4380C>T (p.Thr1460=)
c.2718C>T (p.Thr906=)
 ClinVar
Xg.108687550T>ACA413854141COL4A5c.4384T>A (p.Ser1462Thr)
c.4366T>A (p.Ser1456Thr)
n.878T>A
c.180T>A
c.4375T>A (p.Ser1459Thr)
c.4060T>A (p.Ser1354Thr)
c.1957T>A (p.Ser653Thr)
c.4399T>A (p.Ser1467Thr)
c.4390T>A (p.Ser1464Thr)
c.4381T>A (p.Ser1461Thr)
c.2719T>A (p.Ser907Thr)
 dbSNP
Xg.108687550T>CCA413854144COL4A5c.4384T>C (p.Ser1462Pro)
c.4366T>C (p.Ser1456Pro)
n.878T>C
c.180T>C
c.4375T>C (p.Ser1459Pro)
c.4060T>C (p.Ser1354Pro)
c.1957T>C (p.Ser653Pro)
c.4399T>C (p.Ser1467Pro)
c.4390T>C (p.Ser1464Pro)
c.4381T>C (p.Ser1461Pro)
c.2719T>C (p.Ser907Pro)
Xg.108687550T>GCA413854147COL4A5c.4384T>G (p.Ser1462Ala)
c.4366T>G (p.Ser1456Ala)
n.878T>G
c.180T>G
c.4375T>G (p.Ser1459Ala)
c.4060T>G (p.Ser1354Ala)
c.1957T>G (p.Ser653Ala)
c.4399T>G (p.Ser1467Ala)
c.4390T>G (p.Ser1464Ala)
c.4381T>G (p.Ser1461Ala)
c.2719T>G (p.Ser907Ala)
Xg.108687550T=CA2450719257COL4A5c.4384T= (p.Ser1462=)
c.4366T= (p.Ser1456=)
n.878T=
c.180T=
c.4375T= (p.Ser1459=)
c.4060T= (p.Ser1354=)
c.1957T= (p.Ser653=)
c.4399T= (p.Ser1467=)
c.4390T= (p.Ser1464=)
c.4381T= (p.Ser1461=)
c.2719T= (p.Ser907=)
Xg.108687551C>ACA413854148COL4A5c.4385C>A (p.Ser1462Tyr)
c.4367C>A (p.Ser1456Tyr)
n.879C>A
c.181C>A
c.4376C>A (p.Ser1459Tyr)
c.4061C>A (p.Ser1354Tyr)
c.1958C>A (p.Ser653Tyr)
c.4400C>A (p.Ser1467Tyr)
c.4391C>A (p.Ser1464Tyr)
c.4382C>A (p.Ser1461Tyr)
c.2720C>A (p.Ser907Tyr)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687551C=CA2450719258COL4A5c.4385C= (p.Ser1462=)
c.4367C= (p.Ser1456=)
n.879C=
c.181C=
c.4376C= (p.Ser1459=)
c.4061C= (p.Ser1354=)
c.1958C= (p.Ser653=)
c.4400C= (p.Ser1467=)
c.4391C= (p.Ser1464=)
c.4382C= (p.Ser1461=)
c.2720C= (p.Ser907=)
Xg.108687551C>GCA413854149COL4A5c.4385C>G (p.Ser1462Cys)
c.4367C>G (p.Ser1456Cys)
n.879C>G
c.181C>G
c.4376C>G (p.Ser1459Cys)
c.4061C>G (p.Ser1354Cys)
c.1958C>G (p.Ser653Cys)
c.4400C>G (p.Ser1467Cys)
c.4391C>G (p.Ser1464Cys)
c.4382C>G (p.Ser1461Cys)
c.2720C>G (p.Ser907Cys)
Xg.108687551C>TCA413854151COL4A5c.4385C>T (p.Ser1462Phe)
c.4367C>T (p.Ser1456Phe)
n.879C>T
c.181C>T
c.4376C>T (p.Ser1459Phe)
c.4061C>T (p.Ser1354Phe)
c.1958C>T (p.Ser653Phe)
c.4400C>T (p.Ser1467Phe)
c.4391C>T (p.Ser1464Phe)
c.4382C>T (p.Ser1461Phe)
c.2720C>T (p.Ser907Phe)
 gnomAD v4
Xg.108687552C>ACA517924530COL4A5c.4386C>A (p.Ser1462=)
c.4368C>A (p.Ser1456=)
n.880C>A
c.182C>A
c.4377C>A (p.Ser1459=)
c.4062C>A (p.Ser1354=)
c.1959C>A (p.Ser653=)
c.4401C>A (p.Ser1467=)
c.4392C>A (p.Ser1464=)
c.4383C>A (p.Ser1461=)
c.2721C>A (p.Ser907=)
Xg.108687552C>GCA517924533COL4A5c.4386C>G (p.Ser1462=)
c.4368C>G (p.Ser1456=)
n.880C>G
c.182C>G
c.4377C>G (p.Ser1459=)
c.4062C>G (p.Ser1354=)
c.1959C>G (p.Ser653=)
c.4401C>G (p.Ser1467=)
c.4392C>G (p.Ser1464=)
c.4383C>G (p.Ser1461=)
c.2721C>G (p.Ser907=)
Xg.108687552C>TCA517924532COL4A5c.4386C>T (p.Ser1462=)
c.4368C>T (p.Ser1456=)
n.880C>T
c.182C>T
c.4377C>T (p.Ser1459=)
c.4062C>T (p.Ser1354=)
c.1959C>T (p.Ser653=)
c.4401C>T (p.Ser1467=)
c.4392C>T (p.Ser1464=)
c.4383C>T (p.Ser1461=)
c.2721C>T (p.Ser907=)
 ClinVar
Xg.108687553T>ACA413854156COL4A5c.4387T>A (p.Ser1463Thr)
c.4369T>A (p.Ser1457Thr)
n.881T>A
c.183T>A
c.4378T>A (p.Ser1460Thr)
c.4063T>A (p.Ser1355Thr)
c.1960T>A (p.Ser654Thr)
c.4402T>A (p.Ser1468Thr)
c.4393T>A (p.Ser1465Thr)
c.4384T>A (p.Ser1462Thr)
c.2722T>A (p.Ser908Thr)
Xg.108687553T>CCA413854155COL4A5c.4387T>C (p.Ser1463Pro)
c.4369T>C (p.Ser1457Pro)
n.881T>C
c.183T>C
c.4378T>C (p.Ser1460Pro)
c.4063T>C (p.Ser1355Pro)
c.1960T>C (p.Ser654Pro)
c.4402T>C (p.Ser1468Pro)
c.4393T>C (p.Ser1465Pro)
c.4384T>C (p.Ser1462Pro)
c.2722T>C (p.Ser908Pro)
Xg.108687553T>GCA413854153COL4A5c.4387T>G (p.Ser1463Ala)
c.4369T>G (p.Ser1457Ala)
n.881T>G
c.183T>G
c.4378T>G (p.Ser1460Ala)
c.4063T>G (p.Ser1355Ala)
c.1960T>G (p.Ser654Ala)
c.4402T>G (p.Ser1468Ala)
c.4393T>G (p.Ser1465Ala)
c.4384T>G (p.Ser1462Ala)
c.2722T>G (p.Ser908Ala)
Xg.108687554C>ACA413854159COL4A5c.4388C>A (p.Ser1463Tyr)
c.4370C>A (p.Ser1457Tyr)
n.882C>A
c.184C>A
c.4379C>A (p.Ser1460Tyr)
c.4064C>A (p.Ser1355Tyr)
c.1961C>A (p.Ser654Tyr)
c.4403C>A (p.Ser1468Tyr)
c.4394C>A (p.Ser1465Tyr)
c.4385C>A (p.Ser1462Tyr)
c.2723C>A (p.Ser908Tyr)
Xg.108687554C=CA2450719260COL4A5c.4388C= (p.Ser1463=)
c.4370C= (p.Ser1457=)
n.882C=
c.184C=
c.4379C= (p.Ser1460=)
c.4064C= (p.Ser1355=)
c.1961C= (p.Ser654=)
c.4403C= (p.Ser1468=)
c.4394C= (p.Ser1465=)
c.4385C= (p.Ser1462=)
c.2723C= (p.Ser908=)
Xg.108687554C>GCA413854160COL4A5c.4388C>G (p.Ser1463Cys)
c.4370C>G (p.Ser1457Cys)
n.882C>G
c.184C>G
c.4379C>G (p.Ser1460Cys)
c.4064C>G (p.Ser1355Cys)
c.1961C>G (p.Ser654Cys)
c.4403C>G (p.Ser1468Cys)
c.4394C>G (p.Ser1465Cys)
c.4385C>G (p.Ser1462Cys)
c.2723C>G (p.Ser908Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108687554C>TCA413854164COL4A5c.4388C>T (p.Ser1463Phe)
c.4370C>T (p.Ser1457Phe)
n.882C>T
c.184C>T
c.4379C>T (p.Ser1460Phe)
c.4064C>T (p.Ser1355Phe)
c.1961C>T (p.Ser654Phe)
c.4403C>T (p.Ser1468Phe)
c.4394C>T (p.Ser1465Phe)
c.4385C>T (p.Ser1462Phe)
c.2723C>T (p.Ser908Phe)
 gnomAD v4
Xg.108687555T>ACA517924534COL4A5c.4389T>A (p.Ser1463=)
c.4371T>A (p.Ser1457=)
n.883T>A
c.185T>A
c.4380T>A (p.Ser1460=)
c.4065T>A (p.Ser1355=)
c.1962T>A (p.Ser654=)
c.4404T>A (p.Ser1468=)
c.4395T>A (p.Ser1465=)
c.4386T>A (p.Ser1462=)
c.2724T>A (p.Ser908=)
Xg.108687555T>CCA334059118COL4A5c.4389T>C (p.Ser1463=)
c.4371T>C (p.Ser1457=)
n.883T>C
c.185T>C
c.4380T>C (p.Ser1460=)
c.4065T>C (p.Ser1355=)
c.1962T>C (p.Ser654=)
c.4404T>C (p.Ser1468=)
c.4395T>C (p.Ser1465=)
c.4386T>C (p.Ser1462=)
c.2724T>C (p.Ser908=)
 ClinVar dbSNP
Xg.108687555T>GCA517924536COL4A5c.4389T>G (p.Ser1463=)
c.4371T>G (p.Ser1457=)
n.883T>G
c.185T>G
c.4380T>G (p.Ser1460=)
c.4065T>G (p.Ser1355=)
c.1962T>G (p.Ser654=)
c.4404T>G (p.Ser1468=)
c.4395T>G (p.Ser1465=)
c.4386T>G (p.Ser1462=)
c.2724T>G (p.Ser908=)
Xg.108687555T=CA2450719262COL4A5c.4389T= (p.Ser1463=)
c.4371T= (p.Ser1457=)
n.883T=
c.185T=
c.4380T= (p.Ser1460=)
c.4065T= (p.Ser1355=)
c.1962T= (p.Ser654=)
c.4404T= (p.Ser1468=)
c.4395T= (p.Ser1465=)
c.4386T= (p.Ser1462=)
c.2724T= (p.Ser908=)
Xg.108687555dupCA913190509COL4A5c.4389dup (p.Val1464CysfsTer28)
c.4371dup (p.Val1458CysfsTer28)
n.883dup
c.185dup
c.4380dup (p.Val1461CysfsTer28)
c.4065dup (p.Val1356CysfsTer28)
c.1962dup (p.Val655CysfsTer28)
c.4404dup (p.Val1469CysfsTer28)
c.4395dup (p.Val1466CysfsTer28)
c.4386dup (p.Val1463CysfsTer28)
c.2724dup (p.Val909CysfsTer28)
 ClinVar dbSNP gnomAD v4
Xg.108687556_108687557delCA2579677162COL4A5c.4390_4391del (p.Val1464CysfsTer27)
c.4372_4373del (p.Val1458CysfsTer27)
n.884_885del
c.186_187del
c.4381_4382del (p.Val1461CysfsTer27)
c.4066_4067del (p.Val1356CysfsTer27)
c.1963_1964del (p.Val655CysfsTer27)
c.4405_4406del (p.Val1469CysfsTer27)
c.4396_4397del (p.Val1466CysfsTer27)
c.4387_4388del (p.Val1463CysfsTer27)
c.2725_2726del (p.Val909CysfsTer27)
Xg.108687556G>ACA413854165COL4A5c.4390G>A (p.Val1464Ile)
c.4372G>A (p.Val1458Ile)
n.884G>A
c.186G>A
c.4381G>A (p.Val1461Ile)
c.4066G>A (p.Val1356Ile)
c.1963G>A (p.Val655Ile)
c.4405G>A (p.Val1469Ile)
c.4396G>A (p.Val1466Ile)
c.4387G>A (p.Val1463Ile)
c.2725G>A (p.Val909Ile)
Xg.108687556G>CCA413854166COL4A5c.4390G>C (p.Val1464Leu)
c.4372G>C (p.Val1458Leu)
n.884G>C
c.186G>C
c.4381G>C (p.Val1461Leu)
c.4066G>C (p.Val1356Leu)
c.1963G>C (p.Val655Leu)
c.4405G>C (p.Val1469Leu)
c.4396G>C (p.Val1466Leu)
c.4387G>C (p.Val1463Leu)
c.2725G>C (p.Val909Leu)
Xg.108687556G>TCA413854167COL4A5c.4390G>T (p.Val1464Phe)
c.4372G>T (p.Val1458Phe)
n.884G>T
c.186G>T
c.4381G>T (p.Val1461Phe)
c.4066G>T (p.Val1356Phe)
c.1963G>T (p.Val655Phe)
c.4405G>T (p.Val1469Phe)
c.4396G>T (p.Val1466Phe)
c.4387G>T (p.Val1463Phe)
c.2725G>T (p.Val909Phe)
Xg.108687556dupCA2695235235COL4A5c.4390dup (p.Val1464GlyfsTer28)
c.4372dup (p.Val1458GlyfsTer28)
n.884dup
c.186dup
c.4381dup (p.Val1461GlyfsTer28)
c.4066dup (p.Val1356GlyfsTer28)
c.1963dup (p.Val655GlyfsTer28)
c.4405dup (p.Val1469GlyfsTer28)
c.4396dup (p.Val1466GlyfsTer28)
c.4387dup (p.Val1463GlyfsTer28)
c.2725dup (p.Val909GlyfsTer28)
Xg.108687557T>ACA413854168COL4A5c.4391T>A (p.Val1464Asp)
c.4373T>A (p.Val1458Asp)
n.885T>A
c.187T>A
c.4382T>A (p.Val1461Asp)
c.4067T>A (p.Val1356Asp)
c.1964T>A (p.Val655Asp)
c.4406T>A (p.Val1469Asp)
c.4397T>A (p.Val1466Asp)
c.4388T>A (p.Val1463Asp)
c.2726T>A (p.Val909Asp)
Xg.108687557T>CCA413854169COL4A5c.4391T>C (p.Val1464Ala)
c.4373T>C (p.Val1458Ala)
n.885T>C
c.187T>C
c.4382T>C (p.Val1461Ala)
c.4067T>C (p.Val1356Ala)
c.1964T>C (p.Val655Ala)
c.4406T>C (p.Val1469Ala)
c.4397T>C (p.Val1466Ala)
c.4388T>C (p.Val1463Ala)
c.2726T>C (p.Val909Ala)
 gnomAD v4
Xg.108687557T>GCA413854170COL4A5c.4391T>G (p.Val1464Gly)
c.4373T>G (p.Val1458Gly)
n.885T>G
c.187T>G
c.4382T>G (p.Val1461Gly)
c.4067T>G (p.Val1356Gly)
c.1964T>G (p.Val655Gly)
c.4406T>G (p.Val1469Gly)
c.4397T>G (p.Val1466Gly)
c.4388T>G (p.Val1463Gly)
c.2726T>G (p.Val909Gly)
Xg.108687558T>ACA517924538COL4A5c.4392T>A (p.Val1464=)
c.4374T>A (p.Val1458=)
n.886T>A
c.188T>A
c.4383T>A (p.Val1461=)
c.4068T>A (p.Val1356=)
c.1965T>A (p.Val655=)
c.4407T>A (p.Val1469=)
c.4398T>A (p.Val1466=)
c.4389T>A (p.Val1463=)
c.2727T>A (p.Val909=)
Xg.108687558T>CCA517924540COL4A5c.4392T>C (p.Val1464=)
c.4374T>C (p.Val1458=)
n.886T>C
c.188T>C
c.4383T>C (p.Val1461=)
c.4068T>C (p.Val1356=)
c.1965T>C (p.Val655=)
c.4407T>C (p.Val1469=)
c.4398T>C (p.Val1466=)
c.4389T>C (p.Val1463=)
c.2727T>C (p.Val909=)
 ClinVar gnomAD v4
Xg.108687558T>GCA517924542COL4A5c.4392T>G (p.Val1464=)
c.4374T>G (p.Val1458=)
n.886T>G
c.188T>G
c.4383T>G (p.Val1461=)
c.4068T>G (p.Val1356=)
c.1965T>G (p.Val655=)
c.4407T>G (p.Val1469=)
c.4398T>G (p.Val1466=)
c.4389T>G (p.Val1463=)
c.2727T>G (p.Val909=)
Xg.108687559G>ACA413854171COL4A5c.4393G>A (p.Ala1465Thr)
c.4375G>A (p.Ala1459Thr)
n.887G>A
c.189G>A
c.4384G>A (p.Ala1462Thr)
c.4069G>A (p.Ala1357Thr)
c.1966G>A (p.Ala656Thr)
c.4408G>A (p.Ala1470Thr)
c.4399G>A (p.Ala1467Thr)
c.4390G>A (p.Ala1464Thr)
c.2728G>A (p.Ala910Thr)
 ClinVar dbSNP
Xg.108687559G>CCA413854172COL4A5c.4393G>C (p.Ala1465Pro)
c.4375G>C (p.Ala1459Pro)
n.887G>C
c.189G>C
c.4384G>C (p.Ala1462Pro)
c.4069G>C (p.Ala1357Pro)
c.1966G>C (p.Ala656Pro)
c.4408G>C (p.Ala1470Pro)
c.4399G>C (p.Ala1467Pro)
c.4390G>C (p.Ala1464Pro)
c.2728G>C (p.Ala910Pro)
Xg.108687559G>TCA413854173COL4A5c.4393G>T (p.Ala1465Ser)
c.4375G>T (p.Ala1459Ser)
n.887G>T
c.189G>T
c.4384G>T (p.Ala1462Ser)
c.4069G>T (p.Ala1357Ser)
c.1966G>T (p.Ala656Ser)
c.4408G>T (p.Ala1470Ser)
c.4399G>T (p.Ala1467Ser)
c.4390G>T (p.Ala1464Ser)
c.2728G>T (p.Ala910Ser)
Xg.108687560C>ACA413854175COL4A5c.4394C>A (p.Ala1465Glu)
c.4376C>A (p.Ala1459Glu)
n.888C>A
c.190C>A
c.4385C>A (p.Ala1462Glu)
c.4070C>A (p.Ala1357Glu)
c.1967C>A (p.Ala656Glu)
c.4409C>A (p.Ala1470Glu)
c.4400C>A (p.Ala1467Glu)
c.4391C>A (p.Ala1464Glu)
c.2729C>A (p.Ala910Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108687560C=CA2450719063COL4A5c.4394C= (p.Ala1465=)
c.4376C= (p.Ala1459=)
n.888C=
c.190C=
c.4385C= (p.Ala1462=)
c.4070C= (p.Ala1357=)
c.1967C= (p.Ala656=)
c.4409C= (p.Ala1470=)
c.4400C= (p.Ala1467=)
c.4391C= (p.Ala1464=)
c.2729C= (p.Ala910=)
Xg.108687560C>GCA413854179COL4A5c.4394C>G (p.Ala1465Gly)
c.4376C>G (p.Ala1459Gly)
n.888C>G
c.190C>G
c.4385C>G (p.Ala1462Gly)
c.4070C>G (p.Ala1357Gly)
c.1967C>G (p.Ala656Gly)
c.4409C>G (p.Ala1470Gly)
c.4400C>G (p.Ala1467Gly)
c.4391C>G (p.Ala1464Gly)
c.2729C>G (p.Ala910Gly)
Xg.108687560C>TCA413854177COL4A5c.4394C>T (p.Ala1465Val)
c.4376C>T (p.Ala1459Val)
n.888C>T
c.190C>T
c.4385C>T (p.Ala1462Val)
c.4070C>T (p.Ala1357Val)
c.1967C>T (p.Ala656Val)
c.4409C>T (p.Ala1470Val)
c.4400C>T (p.Ala1467Val)
c.4391C>T (p.Ala1464Val)
c.2729C>T (p.Ala910Val)
Xg.108687561A>CCA517924543COL4A5c.4395A>C (p.Ala1465=)
c.4377A>C (p.Ala1459=)
n.889A>C
c.191A>C
c.4386A>C (p.Ala1462=)
c.4071A>C (p.Ala1357=)
c.1968A>C (p.Ala656=)
c.4410A>C (p.Ala1470=)
c.4401A>C (p.Ala1467=)
c.4392A>C (p.Ala1464=)
c.2730A>C (p.Ala910=)
Xg.108687561A>GCA517924544COL4A5c.4395A>G (p.Ala1465=)
c.4377A>G (p.Ala1459=)
n.889A>G
c.191A>G
c.4386A>G (p.Ala1462=)
c.4071A>G (p.Ala1357=)
c.1968A>G (p.Ala656=)
c.4410A>G (p.Ala1470=)
c.4401A>G (p.Ala1467=)
c.4392A>G (p.Ala1464=)
c.2730A>G (p.Ala910=)
Xg.108687561A>TCA517924545COL4A5c.4395A>T (p.Ala1465=)
c.4377A>T (p.Ala1459=)
n.889A>T
c.191A>T
c.4386A>T (p.Ala1462=)
c.4071A>T (p.Ala1357=)
c.1968A>T (p.Ala656=)
c.4410A>T (p.Ala1470=)
c.4401A>T (p.Ala1467=)
c.4392A>T (p.Ala1464=)
c.2730A>T (p.Ala910=)
Xg.108687562C>ACA413854181COL4A5c.4396C>A (p.His1466Asn)
c.4378C>A (p.His1460Asn)
n.890C>A
c.192C>A
c.4387C>A (p.His1463Asn)
c.4072C>A (p.His1358Asn)
c.1969C>A (p.His657Asn)
c.4411C>A (p.His1471Asn)
c.4402C>A (p.His1468Asn)
c.4393C>A (p.His1465Asn)
c.2731C>A (p.His911Asn)
Xg.108687562C>GCA413854183COL4A5c.4396C>G (p.His1466Asp)
c.4378C>G (p.His1460Asp)
n.890C>G
c.192C>G
c.4387C>G (p.His1463Asp)
c.4072C>G (p.His1358Asp)
c.1969C>G (p.His657Asp)
c.4411C>G (p.His1471Asp)
c.4402C>G (p.His1468Asp)
c.4393C>G (p.His1465Asp)
c.2731C>G (p.His911Asp)
Xg.108687562C>TCA413854182COL4A5c.4396C>T (p.His1466Tyr)
c.4378C>T (p.His1460Tyr)
n.890C>T
c.192C>T
c.4387C>T (p.His1463Tyr)
c.4072C>T (p.His1358Tyr)
c.1969C>T (p.His657Tyr)
c.4411C>T (p.His1471Tyr)
c.4402C>T (p.His1468Tyr)
c.4393C>T (p.His1465Tyr)
c.2731C>T (p.His911Tyr)
 COSMIC
Xg.108687562_108687566dupCA2695235236COL4A5c.4396_4400dup (p.Phe1468MetfsTer?)
c.4378_4382dup (p.Phe1462MetfsTer?)
n.890_894dup
c.192_196dup
c.4387_4391dup (p.Phe1465MetfsTer?)
c.4072_4076dup (p.Phe1360MetfsTer?)
c.1969_1973dup (p.Phe659MetfsTer?)
c.4411_4415dup (p.Phe1473MetfsTer?)
c.4402_4406dup (p.Phe1470MetfsTer?)
c.4393_4397dup (p.Phe1467MetfsTer?)
c.2731_2735dup (p.Phe913MetfsTer?)
Xg.108687563A=CA2450719068COL4A5c.4397A= (p.His1466=)
c.4379A= (p.His1460=)
n.891A=
c.193A=
c.4388A= (p.His1463=)
c.4073A= (p.His1358=)
c.1970A= (p.His657=)
c.4412A= (p.His1471=)
c.4403A= (p.His1468=)
c.4394A= (p.His1465=)
c.2732A= (p.His911=)
Xg.108687563A>CCA413854185COL4A5c.4397A>C (p.His1466Pro)
c.4379A>C (p.His1460Pro)
n.891A>C
c.193A>C
c.4388A>C (p.His1463Pro)
c.4073A>C (p.His1358Pro)
c.1970A>C (p.His657Pro)
c.4412A>C (p.His1471Pro)
c.4403A>C (p.His1468Pro)
c.4394A>C (p.His1465Pro)
c.2732A>C (p.His911Pro)
Xg.108687563A>GCA413854188COL4A5c.4397A>G (p.His1466Arg)
c.4379A>G (p.His1460Arg)
n.891A>G
c.193A>G
c.4388A>G (p.His1463Arg)
c.4073A>G (p.His1358Arg)
c.1970A>G (p.His657Arg)
c.4412A>G (p.His1471Arg)
c.4403A>G (p.His1468Arg)
c.4394A>G (p.His1465Arg)
c.2732A>G (p.His911Arg)
 gnomAD v4
Xg.108687563A>TCA413854186COL4A5c.4397A>T (p.His1466Leu)
c.4379A>T (p.His1460Leu)
n.891A>T
c.193A>T
c.4388A>T (p.His1463Leu)
c.4073A>T (p.His1358Leu)
c.1970A>T (p.His657Leu)
c.4412A>T (p.His1471Leu)
c.4403A>T (p.His1468Leu)
c.4394A>T (p.His1465Leu)
c.2732A>T (p.His911Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687564T>ACA413854189COL4A5c.4398T>A (p.His1466Gln)
c.4380T>A (p.His1460Gln)
n.892T>A
c.194T>A
c.4389T>A (p.His1463Gln)
c.4074T>A (p.His1358Gln)
c.1971T>A (p.His657Gln)
c.4413T>A (p.His1471Gln)
c.4404T>A (p.His1468Gln)
c.4395T>A (p.His1465Gln)
c.2733T>A (p.His911Gln)
Xg.108687564T>CCA517924546COL4A5c.4398T>C (p.His1466=)
c.4380T>C (p.His1460=)
n.892T>C
c.194T>C
c.4389T>C (p.His1463=)
c.4074T>C (p.His1358=)
c.1971T>C (p.His657=)
c.4413T>C (p.His1471=)
c.4404T>C (p.His1468=)
c.4395T>C (p.His1465=)
c.2733T>C (p.His911=)
Xg.108687564T>GCA413854190COL4A5c.4398T>G (p.His1466Gln)
c.4380T>G (p.His1460Gln)
n.892T>G
c.194T>G
c.4389T>G (p.His1463Gln)
c.4074T>G (p.His1358Gln)
c.1971T>G (p.His657Gln)
c.4413T>G (p.His1471Gln)
c.4404T>G (p.His1468Gln)
c.4395T>G (p.His1465Gln)
c.2733T>G (p.His911Gln)
 COSMIC COSMIC
Xg.108687565G>ACA413854198COL4A5c.4399G>A (p.Gly1467Arg)
c.4381G>A (p.Gly1461Arg)
n.893G>A
c.195G>A
c.4390G>A (p.Gly1464Arg)
c.4075G>A (p.Gly1359Arg)
c.1972G>A (p.Gly658Arg)
c.4414G>A (p.Gly1472Arg)
c.4405G>A (p.Gly1469Arg)
c.4396G>A (p.Gly1466Arg)
c.2734G>A (p.Gly912Arg)
Xg.108687565G>CCA413854200COL4A5c.4399G>C (p.Gly1467Arg)
c.4381G>C (p.Gly1461Arg)
n.893G>C
c.195G>C
c.4390G>C (p.Gly1464Arg)
c.4075G>C (p.Gly1359Arg)
c.1972G>C (p.Gly658Arg)
c.4414G>C (p.Gly1472Arg)
c.4405G>C (p.Gly1469Arg)
c.4396G>C (p.Gly1466Arg)
c.2734G>C (p.Gly912Arg)
Xg.108687565G>TCA413854202COL4A5c.4399G>T (p.Gly1467Ter)
c.4381G>T (p.Gly1461Ter)
n.893G>T
c.195G>T
c.4390G>T (p.Gly1464Ter)
c.4075G>T (p.Gly1359Ter)
c.1972G>T (p.Gly658Ter)
c.4414G>T (p.Gly1472Ter)
c.4405G>T (p.Gly1469Ter)
c.4396G>T (p.Gly1466Ter)
c.2734G>T (p.Gly912Ter)
Xg.108687566G>ACA413854204COL4A5c.4400G>A (p.Gly1467Glu)
c.4382G>A (p.Gly1461Glu)
n.894G>A
c.196G>A
c.4391G>A (p.Gly1464Glu)
c.4076G>A (p.Gly1359Glu)
c.1973G>A (p.Gly658Glu)
c.4415G>A (p.Gly1472Glu)
c.4406G>A (p.Gly1469Glu)
c.4397G>A (p.Gly1466Glu)
c.2735G>A (p.Gly912Glu)
Xg.108687566G>CCA413854205COL4A5c.4400G>C (p.Gly1467Ala)
c.4382G>C (p.Gly1461Ala)
n.894G>C
c.196G>C
c.4391G>C (p.Gly1464Ala)
c.4076G>C (p.Gly1359Ala)
c.1973G>C (p.Gly658Ala)
c.4415G>C (p.Gly1472Ala)
c.4406G>C (p.Gly1469Ala)
c.4397G>C (p.Gly1466Ala)
c.2735G>C (p.Gly912Ala)
Xg.108687566G>TCA413854206COL4A5c.4400G>T (p.Gly1467Val)
c.4382G>T (p.Gly1461Val)
n.894G>T
c.196G>T
c.4391G>T (p.Gly1464Val)
c.4076G>T (p.Gly1359Val)
c.1973G>T (p.Gly658Val)
c.4415G>T (p.Gly1472Val)
c.4406G>T (p.Gly1469Val)
c.4397G>T (p.Gly1466Val)
c.2735G>T (p.Gly912Val)
Xg.108687567A=CA2450719070COL4A5c.4401A= (p.Gly1467=)
c.4383A= (p.Gly1461=)
n.895A=
c.197A=
c.4392A= (p.Gly1464=)
c.4077A= (p.Gly1359=)
c.1974A= (p.Gly658=)
c.4416A= (p.Gly1472=)
c.4407A= (p.Gly1469=)
c.4398A= (p.Gly1466=)
c.2736A= (p.Gly912=)
Xg.108687567A>CCA517924548COL4A5c.4401A>C (p.Gly1467=)
c.4383A>C (p.Gly1461=)
n.895A>C
c.197A>C
c.4392A>C (p.Gly1464=)
c.4077A>C (p.Gly1359=)
c.1974A>C (p.Gly658=)
c.4416A>C (p.Gly1472=)
c.4407A>C (p.Gly1469=)
c.4398A>C (p.Gly1466=)
c.2736A>C (p.Gly912=)
Xg.108687567A>GCA517924549COL4A5c.4401A>G (p.Gly1467=)
c.4383A>G (p.Gly1461=)
n.895A>G
c.197A>G
c.4392A>G (p.Gly1464=)
c.4077A>G (p.Gly1359=)
c.1974A>G (p.Gly658=)
c.4416A>G (p.Gly1472=)
c.4407A>G (p.Gly1469=)
c.4398A>G (p.Gly1466=)
c.2736A>G (p.Gly912=)
 ClinVar
Xg.108687567A>TCA517924550COL4A5c.4401A>T (p.Gly1467=)
c.4383A>T (p.Gly1461=)
n.895A>T
c.197A>T
c.4392A>T (p.Gly1464=)
c.4077A>T (p.Gly1359=)
c.1974A>T (p.Gly658=)
c.4416A>T (p.Gly1472=)
c.4407A>T (p.Gly1469=)
c.4398A>T (p.Gly1466=)
c.2736A>T (p.Gly912=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687568T>ACA413854207COL4A5c.4402T>A (p.Phe1468Ile)
c.4384T>A (p.Phe1462Ile)
n.896T>A
c.198T>A
c.4393T>A (p.Phe1465Ile)
c.4078T>A (p.Phe1360Ile)
c.1975T>A (p.Phe659Ile)
c.4417T>A (p.Phe1473Ile)
c.4408T>A (p.Phe1470Ile)
c.4399T>A (p.Phe1467Ile)
c.2737T>A (p.Phe913Ile)
Xg.108687568T>CCA413854209COL4A5c.4402T>C (p.Phe1468Leu)
c.4384T>C (p.Phe1462Leu)
n.896T>C
c.198T>C
c.4393T>C (p.Phe1465Leu)
c.4078T>C (p.Phe1360Leu)
c.1975T>C (p.Phe659Leu)
c.4417T>C (p.Phe1473Leu)
c.4408T>C (p.Phe1470Leu)
c.4399T>C (p.Phe1467Leu)
c.2737T>C (p.Phe913Leu)
Xg.108687568T>GCA413854211COL4A5c.4402T>G (p.Phe1468Val)
c.4384T>G (p.Phe1462Val)
n.896T>G
c.198T>G
c.4393T>G (p.Phe1465Val)
c.4078T>G (p.Phe1360Val)
c.1975T>G (p.Phe659Val)
c.4417T>G (p.Phe1473Val)
c.4408T>G (p.Phe1470Val)
c.4399T>G (p.Phe1467Val)
c.2737T>G (p.Phe913Val)
Xg.108687569T>ACA413854216COL4A5c.4403T>A (p.Phe1468Tyr)
c.4385T>A (p.Phe1462Tyr)
n.897T>A
c.199T>A
c.4394T>A (p.Phe1465Tyr)
c.4079T>A (p.Phe1360Tyr)
c.1976T>A (p.Phe659Tyr)
c.4418T>A (p.Phe1473Tyr)
c.4409T>A (p.Phe1470Tyr)
c.4400T>A (p.Phe1467Tyr)
c.2738T>A (p.Phe913Tyr)
Xg.108687569T>CCA413854214COL4A5c.4403T>C (p.Phe1468Ser)
c.4385T>C (p.Phe1462Ser)
n.897T>C
c.199T>C
c.4394T>C (p.Phe1465Ser)
c.4079T>C (p.Phe1360Ser)
c.1976T>C (p.Phe659Ser)
c.4418T>C (p.Phe1473Ser)
c.4409T>C (p.Phe1470Ser)
c.4400T>C (p.Phe1467Ser)
c.2738T>C (p.Phe913Ser)
Xg.108687569T>GCA413854212COL4A5c.4403T>G (p.Phe1468Cys)
c.4385T>G (p.Phe1462Cys)
n.897T>G
c.199T>G
c.4394T>G (p.Phe1465Cys)
c.4079T>G (p.Phe1360Cys)
c.1976T>G (p.Phe659Cys)
c.4418T>G (p.Phe1473Cys)
c.4409T>G (p.Phe1470Cys)
c.4400T>G (p.Phe1467Cys)
c.2738T>G (p.Phe913Cys)
Xg.108687570T>ACA413854218COL4A5c.4404T>A (p.Phe1468Leu)
c.4386T>A (p.Phe1462Leu)
n.898T>A
c.200T>A
c.4395T>A (p.Phe1465Leu)
c.4080T>A (p.Phe1360Leu)
c.1977T>A (p.Phe659Leu)
c.4419T>A (p.Phe1473Leu)
c.4410T>A (p.Phe1470Leu)
c.4401T>A (p.Phe1467Leu)
c.2739T>A (p.Phe913Leu)
Xg.108687570T>CCA517924553COL4A5c.4404T>C (p.Phe1468=)
c.4386T>C (p.Phe1462=)
n.898T>C
c.200T>C
c.4395T>C (p.Phe1465=)
c.4080T>C (p.Phe1360=)
c.1977T>C (p.Phe659=)
c.4419T>C (p.Phe1473=)
c.4410T>C (p.Phe1470=)
c.4401T>C (p.Phe1467=)
c.2739T>C (p.Phe913=)
Xg.108687570T>GCA413854219COL4A5c.4404T>G (p.Phe1468Leu)
c.4386T>G (p.Phe1462Leu)
n.898T>G
c.200T>G
c.4395T>G (p.Phe1465Leu)
c.4080T>G (p.Phe1360Leu)
c.1977T>G (p.Phe659Leu)
c.4419T>G (p.Phe1473Leu)
c.4410T>G (p.Phe1470Leu)
c.4401T>G (p.Phe1467Leu)
c.2739T>G (p.Phe913Leu)
Xg.108687571C>ACA413854220COL4A5c.4405C>A (p.Leu1469Ile)
c.4387C>A (p.Leu1463Ile)
n.899C>A
c.201C>A
c.4396C>A (p.Leu1466Ile)
c.4081C>A (p.Leu1361Ile)
c.1978C>A (p.Leu660Ile)
c.4420C>A (p.Leu1474Ile)
c.4411C>A (p.Leu1471Ile)
c.4402C>A (p.Leu1468Ile)
c.2740C>A (p.Leu914Ile)
Xg.108687571C=CA2450719075COL4A5c.4405C= (p.Leu1469=)
c.4387C= (p.Leu1463=)
n.899C=
c.201C=
c.4396C= (p.Leu1466=)
c.4081C= (p.Leu1361=)
c.1978C= (p.Leu660=)
c.4420C= (p.Leu1474=)
c.4411C= (p.Leu1471=)
c.4402C= (p.Leu1468=)
c.2740C= (p.Leu914=)
Xg.108687571C>GCA413854221COL4A5c.4405C>G (p.Leu1469Val)
c.4387C>G (p.Leu1463Val)
n.899C>G
c.201C>G
c.4396C>G (p.Leu1466Val)
c.4081C>G (p.Leu1361Val)
c.1978C>G (p.Leu660Val)
c.4420C>G (p.Leu1474Val)
c.4411C>G (p.Leu1471Val)
c.4402C>G (p.Leu1468Val)
c.2740C>G (p.Leu914Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108687571C>TCA413854222COL4A5c.4405C>T (p.Leu1469Phe)
c.4387C>T (p.Leu1463Phe)
n.899C>T
c.201C>T
c.4396C>T (p.Leu1466Phe)
c.4081C>T (p.Leu1361Phe)
c.1978C>T (p.Leu660Phe)
c.4420C>T (p.Leu1474Phe)
c.4411C>T (p.Leu1471Phe)
c.4402C>T (p.Leu1468Phe)
c.2740C>T (p.Leu914Phe)
 ClinVar
Xg.108687572T>ACA413854225COL4A5c.4406T>A (p.Leu1469His)
c.4388T>A (p.Leu1463His)
n.900T>A
c.202T>A
c.4397T>A (p.Leu1466His)
c.4082T>A (p.Leu1361His)
c.1979T>A (p.Leu660His)
c.4421T>A (p.Leu1474His)
c.4412T>A (p.Leu1471His)
c.4403T>A (p.Leu1468His)
c.2741T>A (p.Leu914His)
Xg.108687572T>CCA413854227COL4A5c.4406T>C (p.Leu1469Pro)
c.4388T>C (p.Leu1463Pro)
n.900T>C
c.202T>C
c.4397T>C (p.Leu1466Pro)
c.4082T>C (p.Leu1361Pro)
c.1979T>C (p.Leu660Pro)
c.4421T>C (p.Leu1474Pro)
c.4412T>C (p.Leu1471Pro)
c.4403T>C (p.Leu1468Pro)
c.2741T>C (p.Leu914Pro)
Xg.108687572T>GCA413854228COL4A5c.4406T>G (p.Leu1469Arg)
c.4388T>G (p.Leu1463Arg)
n.900T>G
c.202T>G
c.4397T>G (p.Leu1466Arg)
c.4082T>G (p.Leu1361Arg)
c.1979T>G (p.Leu660Arg)
c.4421T>G (p.Leu1474Arg)
c.4412T>G (p.Leu1471Arg)
c.4403T>G (p.Leu1468Arg)
c.2741T>G (p.Leu914Arg)
Xg.108687573T>ACA517924555COL4A5c.4407T>A (p.Leu1469=)
c.4389T>A (p.Leu1463=)
n.901T>A
c.203T>A
c.4398T>A (p.Leu1466=)
c.4083T>A (p.Leu1361=)
c.1980T>A (p.Leu660=)
c.4422T>A (p.Leu1474=)
c.4413T>A (p.Leu1471=)
c.4404T>A (p.Leu1468=)
c.2742T>A (p.Leu914=)
Xg.108687573T>CCA517924556COL4A5c.4407T>C (p.Leu1469=)
c.4389T>C (p.Leu1463=)
n.901T>C
c.203T>C
c.4398T>C (p.Leu1466=)
c.4083T>C (p.Leu1361=)
c.1980T>C (p.Leu660=)
c.4422T>C (p.Leu1474=)
c.4413T>C (p.Leu1471=)
c.4404T>C (p.Leu1468=)
c.2742T>C (p.Leu914=)
Xg.108687573T>GCA517924557COL4A5c.4407T>G (p.Leu1469=)
c.4389T>G (p.Leu1463=)
n.901T>G
c.203T>G
c.4398T>G (p.Leu1466=)
c.4083T>G (p.Leu1361=)
c.1980T>G (p.Leu660=)
c.4422T>G (p.Leu1474=)
c.4413T>G (p.Leu1471=)
c.4404T>G (p.Leu1468=)
c.2742T>G (p.Leu914=)
Xg.108687574A=CA2450719081COL4A5c.4408A= (p.Ile1470=)
c.4390A= (p.Ile1464=)
n.902A=
c.204A=
c.4399A= (p.Ile1467=)
c.4084A= (p.Ile1362=)
c.1981A= (p.Ile661=)
c.4423A= (p.Ile1475=)
c.4414A= (p.Ile1472=)
c.4405A= (p.Ile1469=)
c.2743A= (p.Ile915=)
Xg.108687574A>CCA413854230COL4A5c.4408A>C (p.Ile1470Leu)
c.4390A>C (p.Ile1464Leu)
n.902A>C
c.204A>C
c.4399A>C (p.Ile1467Leu)
c.4084A>C (p.Ile1362Leu)
c.1981A>C (p.Ile661Leu)
c.4423A>C (p.Ile1475Leu)
c.4414A>C (p.Ile1472Leu)
c.4405A>C (p.Ile1469Leu)
c.2743A>C (p.Ile915Leu)
Xg.108687574A>GCA413854231COL4A5c.4408A>G (p.Ile1470Val)
c.4390A>G (p.Ile1464Val)
n.902A>G
c.204A>G
c.4399A>G (p.Ile1467Val)
c.4084A>G (p.Ile1362Val)
c.1981A>G (p.Ile661Val)
c.4423A>G (p.Ile1475Val)
c.4414A>G (p.Ile1472Val)
c.4405A>G (p.Ile1469Val)
c.2743A>G (p.Ile915Val)
Xg.108687574A>TCA413854232COL4A5c.4408A>T (p.Ile1470Phe)
c.4390A>T (p.Ile1464Phe)
n.902A>T
c.204A>T
c.4399A>T (p.Ile1467Phe)
c.4084A>T (p.Ile1362Phe)
c.1981A>T (p.Ile661Phe)
c.4423A>T (p.Ile1475Phe)
c.4414A>T (p.Ile1472Phe)
c.4405A>T (p.Ile1469Phe)
c.2743A>T (p.Ile915Phe)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687575T>ACA413854236COL4A5c.4409T>A (p.Ile1470Asn)
c.4391T>A (p.Ile1464Asn)
n.903T>A
c.205T>A
c.4400T>A (p.Ile1467Asn)
c.4085T>A (p.Ile1362Asn)
c.1982T>A (p.Ile661Asn)
c.4424T>A (p.Ile1475Asn)
c.4415T>A (p.Ile1472Asn)
c.4406T>A (p.Ile1469Asn)
c.2744T>A (p.Ile915Asn)
Xg.108687575T>CCA413854234COL4A5c.4409T>C (p.Ile1470Thr)
c.4391T>C (p.Ile1464Thr)
n.903T>C
c.205T>C
c.4400T>C (p.Ile1467Thr)
c.4085T>C (p.Ile1362Thr)
c.1982T>C (p.Ile661Thr)
c.4424T>C (p.Ile1475Thr)
c.4415T>C (p.Ile1472Thr)
c.4406T>C (p.Ile1469Thr)
c.2744T>C (p.Ile915Thr)
Xg.108687575T>GCA413854233COL4A5c.4409T>G (p.Ile1470Ser)
c.4391T>G (p.Ile1464Ser)
n.903T>G
c.205T>G
c.4400T>G (p.Ile1467Ser)
c.4085T>G (p.Ile1362Ser)
c.1982T>G (p.Ile661Ser)
c.4424T>G (p.Ile1475Ser)
c.4415T>G (p.Ile1472Ser)
c.4406T>G (p.Ile1469Ser)
c.2744T>G (p.Ile915Ser)
Xg.108687576delCA2580100171COL4A5c.4410del (p.Thr1471HisfsTer?)
c.4392del (p.Thr1465HisfsTer?)
n.904del
c.206del
c.4401del (p.Thr1468HisfsTer?)
c.4086del (p.Thr1363HisfsTer?)
c.1983del (p.Thr662HisfsTer?)
c.4425del (p.Thr1476HisfsTer?)
c.4416del (p.Thr1473HisfsTer?)
c.4407del (p.Thr1470HisfsTer?)
c.2745del (p.Thr916HisfsTer?)
 ClinVar
Xg.108687576T>ACA517924559COL4A5c.4410T>A (p.Ile1470=)
c.4392T>A (p.Ile1464=)
n.904T>A
c.206T>A
c.4401T>A (p.Ile1467=)
c.4086T>A (p.Ile1362=)
c.1983T>A (p.Ile661=)
c.4425T>A (p.Ile1475=)
c.4416T>A (p.Ile1472=)
c.4407T>A (p.Ile1469=)
c.2745T>A (p.Ile915=)
Xg.108687576T>CCA517924560COL4A5c.4410T>C (p.Ile1470=)
c.4392T>C (p.Ile1464=)
n.904T>C
c.206T>C
c.4401T>C (p.Ile1467=)
c.4086T>C (p.Ile1362=)
c.1983T>C (p.Ile661=)
c.4425T>C (p.Ile1475=)
c.4416T>C (p.Ile1472=)
c.4407T>C (p.Ile1469=)
c.2745T>C (p.Ile915=)
Xg.108687576T>GCA413854237COL4A5c.4410T>G (p.Ile1470Met)
c.4392T>G (p.Ile1464Met)
n.904T>G
c.206T>G
c.4401T>G (p.Ile1467Met)
c.4086T>G (p.Ile1362Met)
c.1983T>G (p.Ile661Met)
c.4425T>G (p.Ile1475Met)
c.4416T>G (p.Ile1472Met)
c.4407T>G (p.Ile1469Met)
c.2745T>G (p.Ile915Met)
Xg.108687577A>CCA413854239COL4A5c.4411A>C (p.Thr1471Pro)
c.4393A>C (p.Thr1465Pro)
n.905A>C
c.207A>C
c.4402A>C (p.Thr1468Pro)
c.4087A>C (p.Thr1363Pro)
c.1984A>C (p.Thr662Pro)
c.4426A>C (p.Thr1476Pro)
c.4417A>C (p.Thr1473Pro)
c.4408A>C (p.Thr1470Pro)
c.2746A>C (p.Thr916Pro)
Xg.108687577A>GCA413854240COL4A5c.4411A>G (p.Thr1471Ala)
c.4393A>G (p.Thr1465Ala)
n.905A>G
c.207A>G
c.4402A>G (p.Thr1468Ala)
c.4087A>G (p.Thr1363Ala)
c.1984A>G (p.Thr662Ala)
c.4426A>G (p.Thr1476Ala)
c.4417A>G (p.Thr1473Ala)
c.4408A>G (p.Thr1470Ala)
c.2746A>G (p.Thr916Ala)
Xg.108687577A>TCA413854241COL4A5c.4411A>T (p.Thr1471Ser)
c.4393A>T (p.Thr1465Ser)
n.905A>T
c.207A>T
c.4402A>T (p.Thr1468Ser)
c.4087A>T (p.Thr1363Ser)
c.1984A>T (p.Thr662Ser)
c.4426A>T (p.Thr1476Ser)
c.4417A>T (p.Thr1473Ser)
c.4408A>T (p.Thr1470Ser)
c.2746A>T (p.Thr916Ser)
Xg.108687578C>ACA413854242COL4A5c.4412C>A (p.Thr1471Lys)
c.4394C>A (p.Thr1465Lys)
n.906C>A
c.208C>A
c.4403C>A (p.Thr1468Lys)
c.4088C>A (p.Thr1363Lys)
c.1985C>A (p.Thr662Lys)
c.4427C>A (p.Thr1476Lys)
c.4418C>A (p.Thr1473Lys)
c.4409C>A (p.Thr1470Lys)
c.2747C>A (p.Thr916Lys)
Xg.108687578C>GCA413854243COL4A5c.4412C>G (p.Thr1471Arg)
c.4394C>G (p.Thr1465Arg)
n.906C>G
c.208C>G
c.4403C>G (p.Thr1468Arg)
c.4088C>G (p.Thr1363Arg)
c.1985C>G (p.Thr662Arg)
c.4427C>G (p.Thr1476Arg)
c.4418C>G (p.Thr1473Arg)
c.4409C>G (p.Thr1470Arg)
c.2747C>G (p.Thr916Arg)
Xg.108687578C>TCA413854244COL4A5c.4412C>T (p.Thr1471Ile)
c.4394C>T (p.Thr1465Ile)
n.906C>T
c.208C>T
c.4403C>T (p.Thr1468Ile)
c.4088C>T (p.Thr1363Ile)
c.1985C>T (p.Thr662Ile)
c.4427C>T (p.Thr1476Ile)
c.4418C>T (p.Thr1473Ile)
c.4409C>T (p.Thr1470Ile)
c.2747C>T (p.Thr916Ile)
Xg.108687579A>CCA517924562COL4A5c.4413A>C (p.Thr1471=)
c.4395A>C (p.Thr1465=)
n.907A>C
c.209A>C
c.4404A>C (p.Thr1468=)
c.4089A>C (p.Thr1363=)
c.1986A>C (p.Thr662=)
c.4428A>C (p.Thr1476=)
c.4419A>C (p.Thr1473=)
c.4410A>C (p.Thr1470=)
c.2748A>C (p.Thr916=)
 gnomAD v4
Xg.108687579A>GCA517924563COL4A5c.4413A>G (p.Thr1471=)
c.4395A>G (p.Thr1465=)
n.907A>G
c.209A>G
c.4404A>G (p.Thr1468=)
c.4089A>G (p.Thr1363=)
c.1986A>G (p.Thr662=)
c.4428A>G (p.Thr1476=)
c.4419A>G (p.Thr1473=)
c.4410A>G (p.Thr1470=)
c.2748A>G (p.Thr916=)
 gnomAD v4
Xg.108687579A>TCA517924564COL4A5c.4413A>T (p.Thr1471=)
c.4395A>T (p.Thr1465=)
n.907A>T
c.209A>T
c.4404A>T (p.Thr1468=)
c.4089A>T (p.Thr1363=)
c.1986A>T (p.Thr662=)
c.4428A>T (p.Thr1476=)
c.4419A>T (p.Thr1473=)
c.4410A>T (p.Thr1470=)
c.2748A>T (p.Thr916=)
Xg.108687580C>ACA413854247COL4A5c.4414C>A (p.Arg1472Ser)
c.4396C>A (p.Arg1466Ser)
n.908C>A
c.210C>A
c.4405C>A (p.Arg1469Ser)
c.4090C>A (p.Arg1364Ser)
c.1987C>A (p.Arg663Ser)
c.4429C>A (p.Arg1477Ser)
c.4420C>A (p.Arg1474Ser)
c.4411C>A (p.Arg1471Ser)
c.2749C>A (p.Arg917Ser)
Xg.108687580C=CA2450719086COL4A5c.4414C= (p.Arg1472=)
c.4396C= (p.Arg1466=)
n.908C=
c.210C=
c.4405C= (p.Arg1469=)
c.4090C= (p.Arg1364=)
c.1987C= (p.Arg663=)
c.4429C= (p.Arg1477=)
c.4420C= (p.Arg1474=)
c.4411C= (p.Arg1471=)
c.2749C= (p.Arg917=)
Xg.108687580C>GCA413854249COL4A5c.4414C>G (p.Arg1472Gly)
c.4396C>G (p.Arg1466Gly)
n.908C>G
c.210C>G
c.4405C>G (p.Arg1469Gly)
c.4090C>G (p.Arg1364Gly)
c.1987C>G (p.Arg663Gly)
c.4429C>G (p.Arg1477Gly)
c.4420C>G (p.Arg1474Gly)
c.4411C>G (p.Arg1471Gly)
c.2749C>G (p.Arg917Gly)
Xg.108687580C>TCA10489349COL4A5c.4414C>T (p.Arg1472Cys)
c.4396C>T (p.Arg1466Cys)
n.908C>T
c.210C>T
c.4405C>T (p.Arg1469Cys)
c.4090C>T (p.Arg1364Cys)
c.1987C>T (p.Arg663Cys)
c.4429C>T (p.Arg1477Cys)
c.4420C>T (p.Arg1474Cys)
c.4411C>T (p.Arg1471Cys)
c.2749C>T (p.Arg917Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108687581G>ACA413854253COL4A5c.4415G>A (p.Arg1472His)
c.4397G>A (p.Arg1466His)
n.909G>A
c.211G>A
c.4406G>A (p.Arg1469His)
c.4091G>A (p.Arg1364His)
c.1988G>A (p.Arg663His)
c.4430G>A (p.Arg1477His)
c.4421G>A (p.Arg1474His)
c.4412G>A (p.Arg1471His)
c.2750G>A (p.Arg917His)
 dbSNP gnomAD v4
Xg.108687581G>CCA413854255COL4A5c.4415G>C (p.Arg1472Pro)
c.4397G>C (p.Arg1466Pro)
n.909G>C
c.211G>C
c.4406G>C (p.Arg1469Pro)
c.4091G>C (p.Arg1364Pro)
c.1988G>C (p.Arg663Pro)
c.4430G>C (p.Arg1477Pro)
c.4421G>C (p.Arg1474Pro)
c.4412G>C (p.Arg1471Pro)
c.2750G>C (p.Arg917Pro)
Xg.108687581G=CA2450719091COL4A5c.4415G= (p.Arg1472=)
c.4397G= (p.Arg1466=)
n.909G=
c.211G=
c.4406G= (p.Arg1469=)
c.4091G= (p.Arg1364=)
c.1988G= (p.Arg663=)
c.4430G= (p.Arg1477=)
c.4421G= (p.Arg1474=)
c.4412G= (p.Arg1471=)
c.2750G= (p.Arg917=)
Xg.108687581G>TCA413854257COL4A5c.4415G>T (p.Arg1472Leu)
c.4397G>T (p.Arg1466Leu)
n.909G>T
c.211G>T
c.4406G>T (p.Arg1469Leu)
c.4091G>T (p.Arg1364Leu)
c.1988G>T (p.Arg663Leu)
c.4430G>T (p.Arg1477Leu)
c.4421G>T (p.Arg1474Leu)
c.4412G>T (p.Arg1471Leu)
c.2750G>T (p.Arg917Leu)
Xg.108687581_108687582delinsCTCA2573159110COL4A5c.4415_4416delinsCT (p.Arg1472Pro)
c.4397_4398delinsCT (p.Arg1466Pro)
n.909_910delinsCT
c.211_212delinsCT
c.4406_4407delinsCT (p.Arg1469Pro)
c.4091_4092delinsCT (p.Arg1364Pro)
c.1988_1989delinsCT (p.Arg663Pro)
c.4430_4431delinsCT (p.Arg1477Pro)
c.4421_4422delinsCT (p.Arg1474Pro)
c.4412_4413delinsCT (p.Arg1471Pro)
c.2750_2751delinsCT (p.Arg917Pro)
 ClinVar dbSNP
Xg.108687582C>ACA517924569COL4A5c.4416C>A (p.Arg1472=)
c.4398C>A (p.Arg1466=)
n.910C>A
c.212C>A
c.4407C>A (p.Arg1469=)
c.4092C>A (p.Arg1364=)
c.1989C>A (p.Arg663=)
c.4431C>A (p.Arg1477=)
c.4422C>A (p.Arg1474=)
c.4413C>A (p.Arg1471=)
c.2751C>A (p.Arg917=)
 gnomAD v4
Xg.108687582C=CA2450719104COL4A5c.4416C= (p.Arg1472=)
c.4398C= (p.Arg1466=)
n.910C=
c.212C=
c.4407C= (p.Arg1469=)
c.4092C= (p.Arg1364=)
c.1989C= (p.Arg663=)
c.4431C= (p.Arg1477=)
c.4422C= (p.Arg1474=)
c.4413C= (p.Arg1471=)
c.2751C= (p.Arg917=)
Xg.108687582C>GCA517924570COL4A5c.4416C>G (p.Arg1472=)
c.4398C>G (p.Arg1466=)
n.910C>G
c.212C>G
c.4407C>G (p.Arg1469=)
c.4092C>G (p.Arg1364=)
c.1989C>G (p.Arg663=)
c.4431C>G (p.Arg1477=)
c.4422C>G (p.Arg1474=)
c.4413C>G (p.Arg1471=)
c.2751C>G (p.Arg917=)
Xg.108687582C>TCA517924568COL4A5c.4416C>T (p.Arg1472=)
c.4398C>T (p.Arg1466=)
n.910C>T
c.212C>T
c.4407C>T (p.Arg1469=)
c.4092C>T (p.Arg1364=)
c.1989C>T (p.Arg663=)
c.4431C>T (p.Arg1477=)
c.4422C>T (p.Arg1474=)
c.4413C>T (p.Arg1471=)
c.2751C>T (p.Arg917=)
Xg.108687583C>ACA413854259COL4A5c.4417C>A (p.His1473Asn)
c.4399C>A (p.His1467Asn)
n.911C>A
c.213C>A
c.4408C>A (p.His1470Asn)
c.4093C>A (p.His1365Asn)
c.1990C>A (p.His664Asn)
c.4432C>A (p.His1478Asn)
c.4423C>A (p.His1475Asn)
c.4414C>A (p.His1472Asn)
c.2752C>A (p.His918Asn)
Xg.108687583C>GCA413854269COL4A5c.4417C>G (p.His1473Asp)
c.4399C>G (p.His1467Asp)
n.911C>G
c.213C>G
c.4408C>G (p.His1470Asp)
c.4093C>G (p.His1365Asp)
c.1990C>G (p.His664Asp)
c.4432C>G (p.His1478Asp)
c.4423C>G (p.His1475Asp)
c.4414C>G (p.His1472Asp)
c.2752C>G (p.His918Asp)
Xg.108687583C>TCA413854265COL4A5c.4417C>T (p.His1473Tyr)
c.4399C>T (p.His1467Tyr)
n.911C>T
c.213C>T
c.4408C>T (p.His1470Tyr)
c.4093C>T (p.His1365Tyr)
c.1990C>T (p.His664Tyr)
c.4432C>T (p.His1478Tyr)
c.4423C>T (p.His1475Tyr)
c.4414C>T (p.His1472Tyr)
c.2752C>T (p.His918Tyr)
 ClinVar
Xg.108687585_108687586dupCA891843689COL4A5c.4419_4420dup (p.Ser1474ThrfsTer?)
c.4401_4402dup (p.Ser1468ThrfsTer?)
n.913_914dup
c.215_216dup
c.4410_4411dup (p.Ser1471ThrfsTer?)
c.4095_4096dup (p.Ser1366ThrfsTer?)
c.1992_1993dup (p.Ser665ThrfsTer?)
c.4434_4435dup (p.Ser1479ThrfsTer?)
c.4425_4426dup (p.Ser1476ThrfsTer?)
c.4416_4417dup (p.Ser1473ThrfsTer?)
c.2754_2755dup (p.Ser919ThrfsTer?)
Xg.108687584A>CCA413854271COL4A5c.4418A>C (p.His1473Pro)
c.4400A>C (p.His1467Pro)
n.912A>C
c.214A>C
c.4409A>C (p.His1470Pro)
c.4094A>C (p.His1365Pro)
c.1991A>C (p.His664Pro)
c.4433A>C (p.His1478Pro)
c.4424A>C (p.His1475Pro)
c.4415A>C (p.His1472Pro)
c.2753A>C (p.His918Pro)
Xg.108687584A>GCA413854273COL4A5c.4418A>G (p.His1473Arg)
c.4400A>G (p.His1467Arg)
n.912A>G
c.214A>G
c.4409A>G (p.His1470Arg)
c.4094A>G (p.His1365Arg)
c.1991A>G (p.His664Arg)
c.4433A>G (p.His1478Arg)
c.4424A>G (p.His1475Arg)
c.4415A>G (p.His1472Arg)
c.2753A>G (p.His918Arg)
Xg.108687584A>TCA413854274COL4A5c.4418A>T (p.His1473Leu)
c.4400A>T (p.His1467Leu)
n.912A>T
c.214A>T
c.4409A>T (p.His1470Leu)
c.4094A>T (p.His1365Leu)
c.1991A>T (p.His664Leu)
c.4433A>T (p.His1478Leu)
c.4424A>T (p.His1475Leu)
c.4415A>T (p.His1472Leu)
c.2753A>T (p.His918Leu)
Xg.108687585C>ACA413854275COL4A5c.4419C>A (p.His1473Gln)
c.4401C>A (p.His1467Gln)
n.913C>A
c.215C>A
c.4410C>A (p.His1470Gln)
c.4095C>A (p.His1365Gln)
c.1992C>A (p.His664Gln)
c.4434C>A (p.His1478Gln)
c.4425C>A (p.His1475Gln)
c.4416C>A (p.His1472Gln)
c.2754C>A (p.His918Gln)
Xg.108687585C>GCA413854276COL4A5c.4419C>G (p.His1473Gln)
c.4401C>G (p.His1467Gln)
n.913C>G
c.215C>G
c.4410C>G (p.His1470Gln)
c.4095C>G (p.His1365Gln)
c.1992C>G (p.His664Gln)
c.4434C>G (p.His1478Gln)
c.4425C>G (p.His1475Gln)
c.4416C>G (p.His1472Gln)
c.2754C>G (p.His918Gln)
Xg.108687585C>TCA517924573COL4A5c.4419C>T (p.His1473=)
c.4401C>T (p.His1467=)
n.913C>T
c.215C>T
c.4410C>T (p.His1470=)
c.4095C>T (p.His1365=)
c.1992C>T (p.His664=)
c.4434C>T (p.His1478=)
c.4425C>T (p.His1475=)
c.4416C>T (p.His1472=)
c.2754C>T (p.His918=)
Xg.108687586A>CCA413854278COL4A5c.4420A>C (p.Ser1474Arg)
c.4402A>C (p.Ser1468Arg)
n.914A>C
c.216A>C
c.4411A>C (p.Ser1471Arg)
c.4096A>C (p.Ser1366Arg)
c.1993A>C (p.Ser665Arg)
c.4435A>C (p.Ser1479Arg)
c.4426A>C (p.Ser1476Arg)
c.4417A>C (p.Ser1473Arg)
c.2755A>C (p.Ser919Arg)
Xg.108687586A>GCA413854279COL4A5c.4420A>G (p.Ser1474Gly)
c.4402A>G (p.Ser1468Gly)
n.914A>G
c.216A>G
c.4411A>G (p.Ser1471Gly)
c.4096A>G (p.Ser1366Gly)
c.1993A>G (p.Ser665Gly)
c.4435A>G (p.Ser1479Gly)
c.4426A>G (p.Ser1476Gly)
c.4417A>G (p.Ser1473Gly)
c.2755A>G (p.Ser919Gly)
Xg.108687586A>TCA413854280COL4A5c.4420A>T (p.Ser1474Cys)
c.4402A>T (p.Ser1468Cys)
n.914A>T
c.216A>T
c.4411A>T (p.Ser1471Cys)
c.4096A>T (p.Ser1366Cys)
c.1993A>T (p.Ser665Cys)
c.4435A>T (p.Ser1479Cys)
c.4426A>T (p.Ser1476Cys)
c.4417A>T (p.Ser1473Cys)
c.2755A>T (p.Ser919Cys)
Xg.108687587G>ACA413854281COL4A5c.4421G>A (p.Ser1474Asn)
c.4403G>A (p.Ser1468Asn)
n.915G>A
c.217G>A
c.4412G>A (p.Ser1471Asn)
c.4097G>A (p.Ser1366Asn)
c.1994G>A (p.Ser665Asn)
c.4436G>A (p.Ser1479Asn)
c.4427G>A (p.Ser1476Asn)
c.4418G>A (p.Ser1473Asn)
c.2756G>A (p.Ser919Asn)
Xg.108687587G>CCA413854282COL4A5c.4421G>C (p.Ser1474Thr)
c.4403G>C (p.Ser1468Thr)
n.915G>C
c.217G>C
c.4412G>C (p.Ser1471Thr)
c.4097G>C (p.Ser1366Thr)
c.1994G>C (p.Ser665Thr)
c.4436G>C (p.Ser1479Thr)
c.4427G>C (p.Ser1476Thr)
c.4418G>C (p.Ser1473Thr)
c.2756G>C (p.Ser919Thr)
Xg.108687587G>TCA413854283COL4A5c.4421G>T (p.Ser1474Ile)
c.4403G>T (p.Ser1468Ile)
n.915G>T
c.217G>T
c.4412G>T (p.Ser1471Ile)
c.4097G>T (p.Ser1366Ile)
c.1994G>T (p.Ser665Ile)
c.4436G>T (p.Ser1479Ile)
c.4427G>T (p.Ser1476Ile)
c.4418G>T (p.Ser1473Ile)
c.2756G>T (p.Ser919Ile)
Xg.108687588C>ACA413854285COL4A5c.4422C>A (p.Ser1474Arg)
c.4404C>A (p.Ser1468Arg)
n.916C>A
c.218C>A
c.4413C>A (p.Ser1471Arg)
c.4098C>A (p.Ser1366Arg)
c.1995C>A (p.Ser665Arg)
c.4437C>A (p.Ser1479Arg)
c.4428C>A (p.Ser1476Arg)
c.4419C>A (p.Ser1473Arg)
c.2757C>A (p.Ser919Arg)
Xg.108687588C>GCA413854287COL4A5c.4422C>G (p.Ser1474Arg)
c.4404C>G (p.Ser1468Arg)
n.916C>G
c.218C>G
c.4413C>G (p.Ser1471Arg)
c.4098C>G (p.Ser1366Arg)
c.1995C>G (p.Ser665Arg)
c.4437C>G (p.Ser1479Arg)
c.4428C>G (p.Ser1476Arg)
c.4419C>G (p.Ser1473Arg)
c.2757C>G (p.Ser919Arg)
Xg.108687588C>TCA517924575COL4A5c.4422C>T (p.Ser1474=)
c.4404C>T (p.Ser1468=)
n.916C>T
c.218C>T
c.4413C>T (p.Ser1471=)
c.4098C>T (p.Ser1366=)
c.1995C>T (p.Ser665=)
c.4437C>T (p.Ser1479=)
c.4428C>T (p.Ser1476=)
c.4419C>T (p.Ser1473=)
c.2757C>T (p.Ser919=)
Xg.108687589C>ACA413854290COL4A5c.4423C>A (p.Gln1475Lys)
c.4405C>A (p.Gln1469Lys)
n.917C>A
c.219C>A
c.4414C>A (p.Gln1472Lys)
c.4099C>A (p.Gln1367Lys)
c.1996C>A (p.Gln666Lys)
c.4438C>A (p.Gln1480Lys)
c.4429C>A (p.Gln1477Lys)
c.4420C>A (p.Gln1474Lys)
c.2758C>A (p.Gln920Lys)
Xg.108687589C>GCA413854291COL4A5c.4423C>G (p.Gln1475Glu)
c.4405C>G (p.Gln1469Glu)
n.917C>G
c.219C>G
c.4414C>G (p.Gln1472Glu)
c.4099C>G (p.Gln1367Glu)
c.1996C>G (p.Gln666Glu)
c.4438C>G (p.Gln1480Glu)
c.4429C>G (p.Gln1477Glu)
c.4420C>G (p.Gln1474Glu)
c.2758C>G (p.Gln920Glu)
Xg.108687589C>TCA413854293COL4A5c.4423C>T (p.Gln1475Ter)
c.4405C>T (p.Gln1469Ter)
n.917C>T
c.219C>T
c.4414C>T (p.Gln1472Ter)
c.4099C>T (p.Gln1367Ter)
c.1996C>T (p.Gln666Ter)
c.4438C>T (p.Gln1480Ter)
c.4429C>T (p.Gln1477Ter)
c.4420C>T (p.Gln1474Ter)
c.2758C>T (p.Gln920Ter)
Xg.108687591_108687594delCA2825002923COL4A5c.4425_4428del (p.Thr1476ArgfsTer?)
c.4407_4410del (p.Thr1470ArgfsTer?)
n.919_922del
c.221_224del
c.4416_4419del (p.Thr1473ArgfsTer?)
c.4101_4104del (p.Thr1368ArgfsTer?)
c.1998_2001del (p.Thr667ArgfsTer?)
c.4440_4443del (p.Thr1481ArgfsTer?)
c.4431_4434del (p.Thr1478ArgfsTer?)
c.4422_4425del (p.Thr1475ArgfsTer?)
c.2760_2763del (p.Thr921ArgfsTer?)
 ClinVar
Xg.108687590A>CCA413854299COL4A5c.4424A>C (p.Gln1475Pro)
c.4406A>C (p.Gln1469Pro)
n.918A>C
c.220A>C
c.4415A>C (p.Gln1472Pro)
c.4100A>C (p.Gln1367Pro)
c.1997A>C (p.Gln666Pro)
c.4439A>C (p.Gln1480Pro)
c.4430A>C (p.Gln1477Pro)
c.4421A>C (p.Gln1474Pro)
c.2759A>C (p.Gln920Pro)
Xg.108687590A>GCA413854300COL4A5c.4424A>G (p.Gln1475Arg)
c.4406A>G (p.Gln1469Arg)
n.918A>G
c.220A>G
c.4415A>G (p.Gln1472Arg)
c.4100A>G (p.Gln1367Arg)
c.1997A>G (p.Gln666Arg)
c.4439A>G (p.Gln1480Arg)
c.4430A>G (p.Gln1477Arg)
c.4421A>G (p.Gln1474Arg)
c.2759A>G (p.Gln920Arg)
Xg.108687590A>TCA413854306COL4A5c.4424A>T (p.Gln1475Leu)
c.4406A>T (p.Gln1469Leu)
n.918A>T
c.220A>T
c.4415A>T (p.Gln1472Leu)
c.4100A>T (p.Gln1367Leu)
c.1997A>T (p.Gln666Leu)
c.4439A>T (p.Gln1480Leu)
c.4430A>T (p.Gln1477Leu)
c.4421A>T (p.Gln1474Leu)
c.2759A>T (p.Gln920Leu)
 gnomAD v4
Xg.108687591G>ACA517924579COL4A5c.4425G>A (p.Gln1475=)
c.4407G>A (p.Gln1469=)
n.919G>A
c.221G>A
c.4416G>A (p.Gln1472=)
c.4101G>A (p.Gln1367=)
c.1998G>A (p.Gln666=)
c.4440G>A (p.Gln1480=)
c.4431G>A (p.Gln1477=)
c.4422G>A (p.Gln1474=)
c.2760G>A (p.Gln920=)
Xg.108687591G>CCA413854314COL4A5c.4425G>C (p.Gln1475His)
c.4407G>C (p.Gln1469His)
n.919G>C
c.221G>C
c.4416G>C (p.Gln1472His)
c.4101G>C (p.Gln1367His)
c.1998G>C (p.Gln666His)
c.4440G>C (p.Gln1480His)
c.4431G>C (p.Gln1477His)
c.4422G>C (p.Gln1474His)
c.2760G>C (p.Gln920His)
Xg.108687591G>TCA413854308COL4A5c.4425G>T (p.Gln1475His)
c.4407G>T (p.Gln1469His)
n.919G>T
c.221G>T
c.4416G>T (p.Gln1472His)
c.4101G>T (p.Gln1367His)
c.1998G>T (p.Gln666His)
c.4440G>T (p.Gln1480His)
c.4431G>T (p.Gln1477His)
c.4422G>T (p.Gln1474His)
c.2760G>T (p.Gln920His)
Xg.108687592A>CCA413854316COL4A5c.4426A>C (p.Thr1476Pro)
c.4408A>C (p.Thr1470Pro)
n.920A>C
c.222A>C
c.4417A>C (p.Thr1473Pro)
c.4102A>C (p.Thr1368Pro)
c.1999A>C (p.Thr667Pro)
c.4441A>C (p.Thr1481Pro)
c.4432A>C (p.Thr1478Pro)
c.4423A>C (p.Thr1475Pro)
c.2761A>C (p.Thr921Pro)
 gnomAD v4
Xg.108687592A>GCA413854318COL4A5c.4426A>G (p.Thr1476Ala)
c.4408A>G (p.Thr1470Ala)
n.920A>G
c.222A>G
c.4417A>G (p.Thr1473Ala)
c.4102A>G (p.Thr1368Ala)
c.1999A>G (p.Thr667Ala)
c.4441A>G (p.Thr1481Ala)
c.4432A>G (p.Thr1478Ala)
c.4423A>G (p.Thr1475Ala)
c.2761A>G (p.Thr921Ala)
Xg.108687592A>TCA413854321COL4A5c.4426A>T (p.Thr1476Ser)
c.4408A>T (p.Thr1470Ser)
n.920A>T
c.222A>T
c.4417A>T (p.Thr1473Ser)
c.4102A>T (p.Thr1368Ser)
c.1999A>T (p.Thr667Ser)
c.4441A>T (p.Thr1481Ser)
c.4432A>T (p.Thr1478Ser)
c.4423A>T (p.Thr1475Ser)
c.2761A>T (p.Thr921Ser)
Xg.108687593C>ACA413854323COL4A5c.4427C>A (p.Thr1476Lys)
c.4409C>A (p.Thr1470Lys)
n.921C>A
c.223C>A
c.4418C>A (p.Thr1473Lys)
c.4103C>A (p.Thr1368Lys)
c.2000C>A (p.Thr667Lys)
c.4442C>A (p.Thr1481Lys)
c.4433C>A (p.Thr1478Lys)
c.4424C>A (p.Thr1475Lys)
c.2762C>A (p.Thr921Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687593C=CA2450719114COL4A5c.4427C= (p.Thr1476=)
c.4409C= (p.Thr1470=)
n.921C=
c.223C=
c.4418C= (p.Thr1473=)
c.4103C= (p.Thr1368=)
c.2000C= (p.Thr667=)
c.4442C= (p.Thr1481=)
c.4433C= (p.Thr1478=)
c.4424C= (p.Thr1475=)
c.2762C= (p.Thr921=)
Xg.108687593C>GCA413854324COL4A5c.4427C>G (p.Thr1476Arg)
c.4409C>G (p.Thr1470Arg)
n.921C>G
c.223C>G
c.4418C>G (p.Thr1473Arg)
c.4103C>G (p.Thr1368Arg)
c.2000C>G (p.Thr667Arg)
c.4442C>G (p.Thr1481Arg)
c.4433C>G (p.Thr1478Arg)
c.4424C>G (p.Thr1475Arg)
c.2762C>G (p.Thr921Arg)
 COSMIC
Xg.108687593C>TCA413854330COL4A5c.4427C>T (p.Thr1476Ile)
c.4409C>T (p.Thr1470Ile)
n.921C>T
c.223C>T
c.4418C>T (p.Thr1473Ile)
c.4103C>T (p.Thr1368Ile)
c.2000C>T (p.Thr667Ile)
c.4442C>T (p.Thr1481Ile)
c.4433C>T (p.Thr1478Ile)
c.4424C>T (p.Thr1475Ile)
c.2762C>T (p.Thr921Ile)
 gnomAD v4
Xg.108687594A>CCA517924583COL4A5c.4428A>C (p.Thr1476=)
c.4410A>C (p.Thr1470=)
n.922A>C
c.224A>C
c.4419A>C (p.Thr1473=)
c.4104A>C (p.Thr1368=)
c.2001A>C (p.Thr667=)
c.4443A>C (p.Thr1481=)
c.4434A>C (p.Thr1478=)
c.4425A>C (p.Thr1475=)
c.2763A>C (p.Thr921=)
Xg.108687594A>GCA517924584COL4A5c.4428A>G (p.Thr1476=)
c.4410A>G (p.Thr1470=)
n.922A>G
c.224A>G
c.4419A>G (p.Thr1473=)
c.4104A>G (p.Thr1368=)
c.2001A>G (p.Thr667=)
c.4443A>G (p.Thr1481=)
c.4434A>G (p.Thr1478=)
c.4425A>G (p.Thr1475=)
c.2763A>G (p.Thr921=)
Xg.108687594A>TCA517924585COL4A5c.4428A>T (p.Thr1476=)
c.4410A>T (p.Thr1470=)
n.922A>T
c.224A>T
c.4419A>T (p.Thr1473=)
c.4104A>T (p.Thr1368=)
c.2001A>T (p.Thr667=)
c.4443A>T (p.Thr1481=)
c.4434A>T (p.Thr1478=)
c.4425A>T (p.Thr1475=)
c.2763A>T (p.Thr921=)
Xg.108687595A>CCA413854335COL4A5c.4429A>C (p.Thr1477Pro)
c.4411A>C (p.Thr1471Pro)
n.923A>C
c.225A>C
c.4420A>C (p.Thr1474Pro)
c.4105A>C (p.Thr1369Pro)
c.2002A>C (p.Thr668Pro)
c.4444A>C (p.Thr1482Pro)
c.4435A>C (p.Thr1479Pro)
c.4426A>C (p.Thr1476Pro)
c.2764A>C (p.Thr922Pro)
Xg.108687595A>GCA413854333COL4A5c.4429A>G (p.Thr1477Ala)
c.4411A>G (p.Thr1471Ala)
n.923A>G
c.225A>G
c.4420A>G (p.Thr1474Ala)
c.4105A>G (p.Thr1369Ala)
c.2002A>G (p.Thr668Ala)
c.4444A>G (p.Thr1482Ala)
c.4435A>G (p.Thr1479Ala)
c.4426A>G (p.Thr1476Ala)
c.2764A>G (p.Thr922Ala)
Xg.108687595A>TCA413854334COL4A5c.4429A>T (p.Thr1477Ser)
c.4411A>T (p.Thr1471Ser)
n.923A>T
c.225A>T
c.4420A>T (p.Thr1474Ser)
c.4105A>T (p.Thr1369Ser)
c.2002A>T (p.Thr668Ser)
c.4444A>T (p.Thr1482Ser)
c.4435A>T (p.Thr1479Ser)
c.4426A>T (p.Thr1476Ser)
c.2764A>T (p.Thr922Ser)
Xg.108687596C>ACA413854336COL4A5c.4430C>A (p.Thr1477Lys)
c.4412C>A (p.Thr1471Lys)
n.924C>A
c.226C>A
c.4421C>A (p.Thr1474Lys)
c.4106C>A (p.Thr1369Lys)
c.2003C>A (p.Thr668Lys)
c.4445C>A (p.Thr1482Lys)
c.4436C>A (p.Thr1479Lys)
c.4427C>A (p.Thr1476Lys)
c.2765C>A (p.Thr922Lys)
 gnomAD v4
Xg.108687596C=CA2450719117COL4A5c.4430C= (p.Thr1477=)
c.4412C= (p.Thr1471=)
n.924C=
c.226C=
c.4421C= (p.Thr1474=)
c.4106C= (p.Thr1369=)
c.2003C= (p.Thr668=)
c.4445C= (p.Thr1482=)
c.4436C= (p.Thr1479=)
c.4427C= (p.Thr1476=)
c.2765C= (p.Thr922=)
Xg.108687596C>GCA334059132COL4A5c.4430C>G (p.Thr1477Arg)
c.4412C>G (p.Thr1471Arg)
n.924C>G
c.226C>G
c.4421C>G (p.Thr1474Arg)
c.4106C>G (p.Thr1369Arg)
c.2003C>G (p.Thr668Arg)
c.4445C>G (p.Thr1482Arg)
c.4436C>G (p.Thr1479Arg)
c.4427C>G (p.Thr1476Arg)
c.2765C>G (p.Thr922Arg)
 dbSNP gnomAD v4
Xg.108687596C>TCA10489350COL4A5c.4430C>T (p.Thr1477Met)
c.4412C>T (p.Thr1471Met)
n.924C>T
c.226C>T
c.4421C>T (p.Thr1474Met)
c.4106C>T (p.Thr1369Met)
c.2003C>T (p.Thr668Met)
c.4445C>T (p.Thr1482Met)
c.4436C>T (p.Thr1479Met)
c.4427C>T (p.Thr1476Met)
c.2765C>T (p.Thr922Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687597G>ACA10489352COL4A5c.4431G>A (p.Thr1477=)
c.4413G>A (p.Thr1471=)
n.925G>A
c.227G>A
c.4422G>A (p.Thr1474=)
c.4107G>A (p.Thr1369=)
c.2004G>A (p.Thr668=)
c.4446G>A (p.Thr1482=)
c.4437G>A (p.Thr1479=)
c.4428G>A (p.Thr1476=)
c.2766G>A (p.Thr922=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687597G>CCA10489351COL4A5c.4431G>C (p.Thr1477=)
c.4413G>C (p.Thr1471=)
n.925G>C
c.227G>C
c.4422G>C (p.Thr1474=)
c.4107G>C (p.Thr1369=)
c.2004G>C (p.Thr668=)
c.4446G>C (p.Thr1482=)
c.4437G>C (p.Thr1479=)
c.4428G>C (p.Thr1476=)
c.2766G>C (p.Thr922=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108687597G=CA2450719125COL4A5c.4431G= (p.Thr1477=)
c.4413G= (p.Thr1471=)
n.925G=
c.227G=
c.4422G= (p.Thr1474=)
c.4107G= (p.Thr1369=)
c.2004G= (p.Thr668=)
c.4446G= (p.Thr1482=)
c.4437G= (p.Thr1479=)
c.4428G= (p.Thr1476=)
c.2766G= (p.Thr922=)
Xg.108687597G>TCA517924587COL4A5c.4431G>T (p.Thr1477=)
c.4413G>T (p.Thr1471=)
n.925G>T
c.227G>T
c.4422G>T (p.Thr1474=)
c.4107G>T (p.Thr1369=)
c.2004G>T (p.Thr668=)
c.4446G>T (p.Thr1482=)
c.4437G>T (p.Thr1479=)
c.4428G>T (p.Thr1476=)
c.2766G>T (p.Thr922=)
Xg.108687598delCA2580100172COL4A5c.4432del (p.Asp1478MetfsTer?)
c.4414del (p.Asp1472MetfsTer?)
n.926del
c.228del
c.4423del (p.Asp1475MetfsTer?)
c.4108del (p.Asp1370MetfsTer?)
c.2005del (p.Asp669MetfsTer?)
c.4447del (p.Asp1483MetfsTer?)
c.4438del (p.Asp1480MetfsTer?)
c.4429del (p.Asp1477MetfsTer?)
c.2767del (p.Asp923MetfsTer?)
 ClinVar
Xg.108687598G>ACA413854342COL4A5c.4432G>A (p.Asp1478Asn)
c.4414G>A (p.Asp1472Asn)
n.926G>A
c.228G>A
c.4423G>A (p.Asp1475Asn)
c.4108G>A (p.Asp1370Asn)
c.2005G>A (p.Asp669Asn)
c.4447G>A (p.Asp1483Asn)
c.4438G>A (p.Asp1480Asn)
c.4429G>A (p.Asp1477Asn)
c.2767G>A (p.Asp923Asn)
 dbSNP gnomAD v4
Xg.108687598G>CCA413854343COL4A5c.4432G>C (p.Asp1478His)
c.4414G>C (p.Asp1472His)
n.926G>C
c.228G>C
c.4423G>C (p.Asp1475His)
c.4108G>C (p.Asp1370His)
c.2005G>C (p.Asp669His)
c.4447G>C (p.Asp1483His)
c.4438G>C (p.Asp1480His)
c.4429G>C (p.Asp1477His)
c.2767G>C (p.Asp923His)
Xg.108687598G=CA2450719130COL4A5c.4432G= (p.Asp1478=)
c.4414G= (p.Asp1472=)
n.926G=
c.228G=
c.4423G= (p.Asp1475=)
c.4108G= (p.Asp1370=)
c.2005G= (p.Asp669=)
c.4447G= (p.Asp1483=)
c.4438G= (p.Asp1480=)
c.4429G= (p.Asp1477=)
c.2767G= (p.Asp923=)
Xg.108687598G>TCA413854344COL4A5c.4432G>T (p.Asp1478Tyr)
c.4414G>T (p.Asp1472Tyr)
n.926G>T
c.228G>T
c.4423G>T (p.Asp1475Tyr)
c.4108G>T (p.Asp1370Tyr)
c.2005G>T (p.Asp669Tyr)
c.4447G>T (p.Asp1483Tyr)
c.4438G>T (p.Asp1480Tyr)
c.4429G>T (p.Asp1477Tyr)
c.2767G>T (p.Asp923Tyr)
Xg.108687599A>CCA413854345COL4A5c.4433A>C (p.Asp1478Ala)
c.4415A>C (p.Asp1472Ala)
n.927A>C
c.229A>C
c.4424A>C (p.Asp1475Ala)
c.4109A>C (p.Asp1370Ala)
c.2006A>C (p.Asp669Ala)
c.4448A>C (p.Asp1483Ala)
c.4439A>C (p.Asp1480Ala)
c.4430A>C (p.Asp1477Ala)
c.2768A>C (p.Asp923Ala)
Xg.108687599A>GCA413854346COL4A5c.4433A>G (p.Asp1478Gly)
c.4415A>G (p.Asp1472Gly)
n.927A>G
c.229A>G
c.4424A>G (p.Asp1475Gly)
c.4109A>G (p.Asp1370Gly)
c.2006A>G (p.Asp669Gly)
c.4448A>G (p.Asp1483Gly)
c.4439A>G (p.Asp1480Gly)
c.4430A>G (p.Asp1477Gly)
c.2768A>G (p.Asp923Gly)
 gnomAD v4
Xg.108687599A>TCA413854347COL4A5c.4433A>T (p.Asp1478Val)
c.4415A>T (p.Asp1472Val)
n.927A>T
c.229A>T
c.4424A>T (p.Asp1475Val)
c.4109A>T (p.Asp1370Val)
c.2006A>T (p.Asp669Val)
c.4448A>T (p.Asp1483Val)
c.4439A>T (p.Asp1480Val)
c.4430A>T (p.Asp1477Val)
c.2768A>T (p.Asp923Val)
Xg.108687600T>ACA413854348COL4A5c.4434T>A (p.Asp1478Glu)
c.4416T>A (p.Asp1472Glu)
n.928T>A
c.230T>A
c.4425T>A (p.Asp1475Glu)
c.4110T>A (p.Asp1370Glu)
c.2007T>A (p.Asp669Glu)
c.4449T>A (p.Asp1483Glu)
c.4440T>A (p.Asp1480Glu)
c.4431T>A (p.Asp1477Glu)
c.2769T>A (p.Asp923Glu)
Xg.108687600T>CCA517924591COL4A5c.4434T>C (p.Asp1478=)
c.4416T>C (p.Asp1472=)
n.928T>C
c.230T>C
c.4425T>C (p.Asp1475=)
c.4110T>C (p.Asp1370=)
c.2007T>C (p.Asp669=)
c.4449T>C (p.Asp1483=)
c.4440T>C (p.Asp1480=)
c.4431T>C (p.Asp1477=)
c.2769T>C (p.Asp923=)
Xg.108687600T>GCA413854349COL4A5c.4434T>G (p.Asp1478Glu)
c.4416T>G (p.Asp1472Glu)
n.928T>G
c.230T>G
c.4425T>G (p.Asp1475Glu)
c.4110T>G (p.Asp1370Glu)
c.2007T>G (p.Asp669Glu)
c.4449T>G (p.Asp1483Glu)
c.4440T>G (p.Asp1480Glu)
c.4431T>G (p.Asp1477Glu)
c.2769T>G (p.Asp923Glu)
Xg.108687601G>ACA413854351COL4A5c.4435G>A (p.Ala1479Thr)
c.4417G>A (p.Ala1473Thr)
n.929G>A
c.231G>A
c.4426G>A (p.Ala1476Thr)
c.4111G>A (p.Ala1371Thr)
c.2008G>A (p.Ala670Thr)
c.4450G>A (p.Ala1484Thr)
c.4441G>A (p.Ala1481Thr)
c.4432G>A (p.Ala1478Thr)
c.2770G>A (p.Ala924Thr)
Xg.108687601G>CCA413854357COL4A5c.4435G>C (p.Ala1479Pro)
c.4417G>C (p.Ala1473Pro)
n.929G>C
c.231G>C
c.4426G>C (p.Ala1476Pro)
c.4111G>C (p.Ala1371Pro)
c.2008G>C (p.Ala670Pro)
c.4450G>C (p.Ala1484Pro)
c.4441G>C (p.Ala1481Pro)
c.4432G>C (p.Ala1478Pro)
c.2770G>C (p.Ala924Pro)
Xg.108687601G>TCA413854352COL4A5c.4435G>T (p.Ala1479Ser)
c.4417G>T (p.Ala1473Ser)
n.929G>T
c.231G>T
c.4426G>T (p.Ala1476Ser)
c.4111G>T (p.Ala1371Ser)
c.2008G>T (p.Ala670Ser)
c.4450G>T (p.Ala1484Ser)
c.4441G>T (p.Ala1481Ser)
c.4432G>T (p.Ala1478Ser)
c.2770G>T (p.Ala924Ser)
Xg.108687602C>ACA413854359COL4A5c.4436C>A (p.Ala1479Glu)
c.4418C>A (p.Ala1473Glu)
n.930C>A
c.232C>A
c.4427C>A (p.Ala1476Glu)
c.4112C>A (p.Ala1371Glu)
c.2009C>A (p.Ala670Glu)
c.4451C>A (p.Ala1484Glu)
c.4442C>A (p.Ala1481Glu)
c.4433C>A (p.Ala1478Glu)
c.2771C>A (p.Ala924Glu)
 gnomAD v4
Xg.108687602C=CA2450719133COL4A5c.4436C= (p.Ala1479=)
c.4418C= (p.Ala1473=)
n.930C=
c.232C=
c.4427C= (p.Ala1476=)
c.4112C= (p.Ala1371=)
c.2009C= (p.Ala670=)
c.4451C= (p.Ala1484=)
c.4442C= (p.Ala1481=)
c.4433C= (p.Ala1478=)
c.2771C= (p.Ala924=)
Xg.108687602C>GCA413854370COL4A5c.4436C>G (p.Ala1479Gly)
c.4418C>G (p.Ala1473Gly)
n.930C>G
c.232C>G
c.4427C>G (p.Ala1476Gly)
c.4112C>G (p.Ala1371Gly)
c.2009C>G (p.Ala670Gly)
c.4451C>G (p.Ala1484Gly)
c.4442C>G (p.Ala1481Gly)
c.4433C>G (p.Ala1478Gly)
c.2771C>G (p.Ala924Gly)
Xg.108687602C>TCA413854377COL4A5c.4436C>T (p.Ala1479Val)
c.4418C>T (p.Ala1473Val)
n.930C>T
c.232C>T
c.4427C>T (p.Ala1476Val)
c.4112C>T (p.Ala1371Val)
c.2009C>T (p.Ala670Val)
c.4451C>T (p.Ala1484Val)
c.4442C>T (p.Ala1481Val)
c.4433C>T (p.Ala1478Val)
c.2771C>T (p.Ala924Val)
 dbSNP gnomAD v4
Xg.108687603A>CCA517924597COL4A5c.4437A>C (p.Ala1479=)
c.4419A>C (p.Ala1473=)
n.931A>C
c.233A>C
c.4428A>C (p.Ala1476=)
c.4113A>C (p.Ala1371=)
c.2010A>C (p.Ala670=)
c.4452A>C (p.Ala1484=)
c.4443A>C (p.Ala1481=)
c.4434A>C (p.Ala1478=)
c.2772A>C (p.Ala924=)
Xg.108687603A>GCA517924596COL4A5c.4437A>G (p.Ala1479=)
c.4419A>G (p.Ala1473=)
n.931A>G
c.233A>G
c.4428A>G (p.Ala1476=)
c.4113A>G (p.Ala1371=)
c.2010A>G (p.Ala670=)
c.4452A>G (p.Ala1484=)
c.4443A>G (p.Ala1481=)
c.4434A>G (p.Ala1478=)
c.2772A>G (p.Ala924=)
Xg.108687603A>TCA517924595COL4A5c.4437A>T (p.Ala1479=)
c.4419A>T (p.Ala1473=)
n.931A>T
c.233A>T
c.4428A>T (p.Ala1476=)
c.4113A>T (p.Ala1371=)
c.2010A>T (p.Ala670=)
c.4452A>T (p.Ala1484=)
c.4443A>T (p.Ala1481=)
c.4434A>T (p.Ala1478=)
c.2772A>T (p.Ala924=)
Xg.108687604C>ACA413854380COL4A5c.4438C>A (p.Pro1480Thr)
c.4420C>A (p.Pro1474Thr)
n.932C>A
c.234C>A
c.4429C>A (p.Pro1477Thr)
c.4114C>A (p.Pro1372Thr)
c.2011C>A (p.Pro671Thr)
c.4453C>A (p.Pro1485Thr)
c.4444C>A (p.Pro1482Thr)
c.4435C>A (p.Pro1479Thr)
c.2773C>A (p.Pro925Thr)
Xg.108687604C=CA2450719138COL4A5c.4438C= (p.Pro1480=)
c.4420C= (p.Pro1474=)
n.932C=
c.234C=
c.4429C= (p.Pro1477=)
c.4114C= (p.Pro1372=)
c.2011C= (p.Pro671=)
c.4453C= (p.Pro1485=)
c.4444C= (p.Pro1482=)
c.4435C= (p.Pro1479=)
c.2773C= (p.Pro925=)
Xg.108687604C>GCA413854383COL4A5c.4438C>G (p.Pro1480Ala)
c.4420C>G (p.Pro1474Ala)
n.932C>G
c.234C>G
c.4429C>G (p.Pro1477Ala)
c.4114C>G (p.Pro1372Ala)
c.2011C>G (p.Pro671Ala)
c.4453C>G (p.Pro1485Ala)
c.4444C>G (p.Pro1482Ala)
c.4435C>G (p.Pro1479Ala)
c.2773C>G (p.Pro925Ala)
 dbSNP
Xg.108687604C>TCA413854384COL4A5c.4438C>T (p.Pro1480Ser)
c.4420C>T (p.Pro1474Ser)
n.932C>T
c.234C>T
c.4429C>T (p.Pro1477Ser)
c.4114C>T (p.Pro1372Ser)
c.2011C>T (p.Pro671Ser)
c.4453C>T (p.Pro1485Ser)
c.4444C>T (p.Pro1482Ser)
c.4435C>T (p.Pro1479Ser)
c.2773C>T (p.Pro925Ser)
Xg.108687605delCA2695235237COL4A5c.4439del (p.Pro1480HisfsTer?)
c.4421del (p.Pro1474HisfsTer?)
n.933del
c.235del
c.4430del (p.Pro1477HisfsTer?)
c.4115del (p.Pro1372HisfsTer?)
c.2012del (p.Pro671HisfsTer?)
c.4454del (p.Pro1485HisfsTer?)
c.4445del (p.Pro1482HisfsTer?)
c.4436del (p.Pro1479HisfsTer?)
c.2774del (p.Pro925HisfsTer?)
Xg.108687605C>ACA413854387COL4A5c.4439C>A (p.Pro1480Gln)
c.4421C>A (p.Pro1474Gln)
n.933C>A
c.235C>A
c.4430C>A (p.Pro1477Gln)
c.4115C>A (p.Pro1372Gln)
c.2012C>A (p.Pro671Gln)
c.4454C>A (p.Pro1485Gln)
c.4445C>A (p.Pro1482Gln)
c.4436C>A (p.Pro1479Gln)
c.2774C>A (p.Pro925Gln)
 gnomAD v4
Xg.108687605C=CA2450719142COL4A5c.4439C= (p.Pro1480=)
c.4421C= (p.Pro1474=)
n.933C=
c.235C=
c.4430C= (p.Pro1477=)
c.4115C= (p.Pro1372=)
c.2012C= (p.Pro671=)
c.4454C= (p.Pro1485=)
c.4445C= (p.Pro1482=)
c.4436C= (p.Pro1479=)
c.2774C= (p.Pro925=)
Xg.108687605C>GCA413854388COL4A5c.4439C>G (p.Pro1480Arg)
c.4421C>G (p.Pro1474Arg)
n.933C>G
c.235C>G
c.4430C>G (p.Pro1477Arg)
c.4115C>G (p.Pro1372Arg)
c.2012C>G (p.Pro671Arg)
c.4454C>G (p.Pro1485Arg)
c.4445C>G (p.Pro1482Arg)
c.4436C>G (p.Pro1479Arg)
c.2774C>G (p.Pro925Arg)
Xg.108687605C>TCA413854389COL4A5c.4439C>T (p.Pro1480Leu)
c.4421C>T (p.Pro1474Leu)
n.933C>T
c.235C>T
c.4430C>T (p.Pro1477Leu)
c.4115C>T (p.Pro1372Leu)
c.2012C>T (p.Pro671Leu)
c.4454C>T (p.Pro1485Leu)
c.4445C>T (p.Pro1482Leu)
c.4436C>T (p.Pro1479Leu)
c.2774C>T (p.Pro925Leu)
 dbSNP
Xg.108687606A>CCA517924601COL4A5c.4440A>C (p.Pro1480=)
c.4422A>C (p.Pro1474=)
n.934A>C
c.236A>C
c.4431A>C (p.Pro1477=)
c.4116A>C (p.Pro1372=)
c.2013A>C (p.Pro671=)
c.4455A>C (p.Pro1485=)
c.4446A>C (p.Pro1482=)
c.4437A>C (p.Pro1479=)
c.2775A>C (p.Pro925=)
Xg.108687606A>GCA517924600COL4A5c.4440A>G (p.Pro1480=)
c.4422A>G (p.Pro1474=)
n.934A>G
c.236A>G
c.4431A>G (p.Pro1477=)
c.4116A>G (p.Pro1372=)
c.2013A>G (p.Pro671=)
c.4455A>G (p.Pro1485=)
c.4446A>G (p.Pro1482=)
c.4437A>G (p.Pro1479=)
c.2775A>G (p.Pro925=)
Xg.108687606A>TCA517924599COL4A5c.4440A>T (p.Pro1480=)
c.4422A>T (p.Pro1474=)
n.934A>T
c.236A>T
c.4431A>T (p.Pro1477=)
c.4116A>T (p.Pro1372=)
c.2013A>T (p.Pro671=)
c.4455A>T (p.Pro1485=)
c.4446A>T (p.Pro1482=)
c.4437A>T (p.Pro1479=)
c.2775A>T (p.Pro925=)
Xg.108687607delCA2499226311COL4A5c.4441del (p.Gln1481AsnfsTer?)
c.4423del (p.Gln1475AsnfsTer?)
n.935del
c.237del
c.4432del (p.Gln1478AsnfsTer?)
c.4117del (p.Gln1373AsnfsTer?)
c.2014del (p.Gln672AsnfsTer?)
c.4456del (p.Gln1486AsnfsTer?)
c.4447del (p.Gln1483AsnfsTer?)
c.4438del (p.Gln1480AsnfsTer?)
c.2776del (p.Gln926AsnfsTer?)
 ClinVar dbSNP
Xg.108687607C>ACA413854393COL4A5c.4441C>A (p.Gln1481Lys)
c.4423C>A (p.Gln1475Lys)
n.935C>A
c.237C>A
c.4432C>A (p.Gln1478Lys)
c.4117C>A (p.Gln1373Lys)
c.2014C>A (p.Gln672Lys)
c.4456C>A (p.Gln1486Lys)
c.4447C>A (p.Gln1483Lys)
c.4438C>A (p.Gln1480Lys)
c.2776C>A (p.Gln926Lys)
Xg.108687607C=CA2450719151COL4A5c.4441C= (p.Gln1481=)
c.4423C= (p.Gln1475=)
n.935C=
c.237C=
c.4432C= (p.Gln1478=)
c.4117C= (p.Gln1373=)
c.2014C= (p.Gln672=)
c.4456C= (p.Gln1486=)
c.4447C= (p.Gln1483=)
c.4438C= (p.Gln1480=)
c.2776C= (p.Gln926=)
Xg.108687607C>GCA413854395COL4A5c.4441C>G (p.Gln1481Glu)
c.4423C>G (p.Gln1475Glu)
n.935C>G
c.237C>G
c.4432C>G (p.Gln1478Glu)
c.4117C>G (p.Gln1373Glu)
c.2014C>G (p.Gln672Glu)
c.4456C>G (p.Gln1486Glu)
c.4447C>G (p.Gln1483Glu)
c.4438C>G (p.Gln1480Glu)
c.2776C>G (p.Gln926Glu)
Xg.108687607C>TCA413854399COL4A5c.4441C>T (p.Gln1481Ter)
c.4423C>T (p.Gln1475Ter)
n.935C>T
c.237C>T
c.4432C>T (p.Gln1478Ter)
c.4117C>T (p.Gln1373Ter)
c.2014C>T (p.Gln672Ter)
c.4456C>T (p.Gln1486Ter)
c.4447C>T (p.Gln1483Ter)
c.4438C>T (p.Gln1480Ter)
c.2776C>T (p.Gln926Ter)
 ClinVar dbSNP
Xg.108687608A>CCA413854413COL4A5c.4442A>C (p.Gln1481Pro)
c.4424A>C (p.Gln1475Pro)
n.936A>C
c.238A>C
c.4433A>C (p.Gln1478Pro)
c.4118A>C (p.Gln1373Pro)
c.2015A>C (p.Gln672Pro)
c.4457A>C (p.Gln1486Pro)
c.4448A>C (p.Gln1483Pro)
c.4439A>C (p.Gln1480Pro)
c.2777A>C (p.Gln926Pro)
Xg.108687608A>GCA413854401COL4A5c.4442A>G (p.Gln1481Arg)
c.4424A>G (p.Gln1475Arg)
n.936A>G
c.238A>G
c.4433A>G (p.Gln1478Arg)
c.4118A>G (p.Gln1373Arg)
c.2015A>G (p.Gln672Arg)
c.4457A>G (p.Gln1486Arg)
c.4448A>G (p.Gln1483Arg)
c.4439A>G (p.Gln1480Arg)
c.2777A>G (p.Gln926Arg)
Xg.108687608A>TCA413854404COL4A5c.4442A>T (p.Gln1481Leu)
c.4424A>T (p.Gln1475Leu)
n.936A>T
c.238A>T
c.4433A>T (p.Gln1478Leu)
c.4118A>T (p.Gln1373Leu)
c.2015A>T (p.Gln672Leu)
c.4457A>T (p.Gln1486Leu)
c.4448A>T (p.Gln1483Leu)
c.4439A>T (p.Gln1480Leu)
c.2777A>T (p.Gln926Leu)
Xg.108687609A=CA2450719158COL4A5c.4443A= (p.Gln1481=)
c.4425A= (p.Gln1475=)
n.937A=
c.239A=
c.4434A= (p.Gln1478=)
c.4119A= (p.Gln1373=)
c.2016A= (p.Gln672=)
c.4458A= (p.Gln1486=)
c.4449A= (p.Gln1483=)
c.4440A= (p.Gln1480=)
c.2778A= (p.Gln926=)
Xg.108687609A>CCA413854417COL4A5c.4443A>C (p.Gln1481His)
c.4425A>C (p.Gln1475His)
n.937A>C
c.239A>C
c.4434A>C (p.Gln1478His)
c.4119A>C (p.Gln1373His)
c.2016A>C (p.Gln672His)
c.4458A>C (p.Gln1486His)
c.4449A>C (p.Gln1483His)
c.4440A>C (p.Gln1480His)
c.2778A>C (p.Gln926His)
Xg.108687609A>GCA10489353COL4A5c.4443A>G (p.Gln1481=)
c.4425A>G (p.Gln1475=)
n.937A>G
c.239A>G
c.4434A>G (p.Gln1478=)
c.4119A>G (p.Gln1373=)
c.2016A>G (p.Gln672=)
c.4458A>G (p.Gln1486=)
c.4449A>G (p.Gln1483=)
c.4440A>G (p.Gln1480=)
c.2778A>G (p.Gln926=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108687609A>TCA413854424COL4A5c.4443A>T (p.Gln1481His)
c.4425A>T (p.Gln1475His)
n.937A>T
c.239A>T
c.4434A>T (p.Gln1478His)
c.4119A>T (p.Gln1373His)
c.2016A>T (p.Gln672His)
c.4458A>T (p.Gln1486His)
c.4449A>T (p.Gln1483His)
c.4440A>T (p.Gln1480His)
c.2778A>T (p.Gln926His)
Xg.108687610T>ACA413854428COL4A5c.4444T>A (p.Cys1482Ser)
c.4426T>A (p.Cys1476Ser)
n.938T>A
c.240T>A
c.4435T>A (p.Cys1479Ser)
c.4120T>A (p.Cys1374Ser)
c.2017T>A (p.Cys673Ser)
c.4459T>A (p.Cys1487Ser)
c.4450T>A (p.Cys1484Ser)
c.4441T>A (p.Cys1481Ser)
c.2779T>A (p.Cys927Ser)
Xg.108687610T>CCA413854431COL4A5c.4444T>C (p.Cys1482Arg)
c.4426T>C (p.Cys1476Arg)
n.938T>C
c.240T>C
c.4435T>C (p.Cys1479Arg)
c.4120T>C (p.Cys1374Arg)
c.2017T>C (p.Cys673Arg)
c.4459T>C (p.Cys1487Arg)
c.4450T>C (p.Cys1484Arg)
c.4441T>C (p.Cys1481Arg)
c.2779T>C (p.Cys927Arg)
Xg.108687610T>GCA413854434COL4A5c.4444T>G (p.Cys1482Gly)
c.4426T>G (p.Cys1476Gly)
n.938T>G
c.240T>G
c.4435T>G (p.Cys1479Gly)
c.4120T>G (p.Cys1374Gly)
c.2017T>G (p.Cys673Gly)
c.4459T>G (p.Cys1487Gly)
c.4450T>G (p.Cys1484Gly)
c.4441T>G (p.Cys1481Gly)
c.2779T>G (p.Cys927Gly)
Xg.108687611G>ACA413854437COL4A5c.4445G>A (p.Cys1482Tyr)
c.4427G>A (p.Cys1476Tyr)
n.939G>A
c.241G>A
c.4436G>A (p.Cys1479Tyr)
c.4121G>A (p.Cys1374Tyr)
c.2018G>A (p.Cys673Tyr)
c.4460G>A (p.Cys1487Tyr)
c.4451G>A (p.Cys1484Tyr)
c.4442G>A (p.Cys1481Tyr)
c.2780G>A (p.Cys927Tyr)
 ClinVar dbSNP COSMIC COSMIC
Xg.108687611G>CCA413854438COL4A5c.4445G>C (p.Cys1482Ser)
c.4427G>C (p.Cys1476Ser)
n.939G>C
c.241G>C
c.4436G>C (p.Cys1479Ser)
c.4121G>C (p.Cys1374Ser)
c.2018G>C (p.Cys673Ser)
c.4460G>C (p.Cys1487Ser)
c.4451G>C (p.Cys1484Ser)
c.4442G>C (p.Cys1481Ser)
c.2780G>C (p.Cys927Ser)
Xg.108687611G=CA2450719163COL4A5c.4445G= (p.Cys1482=)
c.4427G= (p.Cys1476=)
n.939G=
c.241G=
c.4436G= (p.Cys1479=)
c.4121G= (p.Cys1374=)
c.2018G= (p.Cys673=)
c.4460G= (p.Cys1487=)
c.4451G= (p.Cys1484=)
c.4442G= (p.Cys1481=)
c.2780G= (p.Cys927=)
Xg.108687611G>TCA413854439COL4A5c.4445G>T (p.Cys1482Phe)
c.4427G>T (p.Cys1476Phe)
n.939G>T
c.241G>T
c.4436G>T (p.Cys1479Phe)
c.4121G>T (p.Cys1374Phe)
c.2018G>T (p.Cys673Phe)
c.4460G>T (p.Cys1487Phe)
c.4451G>T (p.Cys1484Phe)
c.4442G>T (p.Cys1481Phe)
c.2780G>T (p.Cys927Phe)
Xg.108687612C>ACA413854440COL4A5c.4446C>A (p.Cys1482Ter)
c.4428C>A (p.Cys1476Ter)
n.940C>A
c.242C>A
c.4437C>A (p.Cys1479Ter)
c.4122C>A (p.Cys1374Ter)
c.2019C>A (p.Cys673Ter)
c.4461C>A (p.Cys1487Ter)
c.4452C>A (p.Cys1484Ter)
c.4443C>A (p.Cys1481Ter)
c.2781C>A (p.Cys927Ter)
 ClinVar
Xg.108687612C>GCA413854441COL4A5c.4446C>G (p.Cys1482Trp)
c.4428C>G (p.Cys1476Trp)
n.940C>G
c.242C>G
c.4437C>G (p.Cys1479Trp)
c.4122C>G (p.Cys1374Trp)
c.2019C>G (p.Cys673Trp)
c.4461C>G (p.Cys1487Trp)
c.4452C>G (p.Cys1484Trp)
c.4443C>G (p.Cys1481Trp)
c.2781C>G (p.Cys927Trp)
 ClinVar dbSNP
Xg.108687612C>TCA517924607COL4A5c.4446C>T (p.Cys1482=)
c.4428C>T (p.Cys1476=)
n.940C>T
c.242C>T
c.4437C>T (p.Cys1479=)
c.4122C>T (p.Cys1374=)
c.2019C>T (p.Cys673=)
c.4461C>T (p.Cys1487=)
c.4452C>T (p.Cys1484=)
c.4443C>T (p.Cys1481=)
c.2781C>T (p.Cys927=)
 gnomAD v4
Xg.108687613C>ACA413854448COL4A5c.4447C>A (p.Pro1483Thr)
c.4429C>A (p.Pro1477Thr)
n.941C>A
c.243C>A
c.4438C>A (p.Pro1480Thr)
c.4123C>A (p.Pro1375Thr)
c.2020C>A (p.Pro674Thr)
c.4462C>A (p.Pro1488Thr)
c.4453C>A (p.Pro1485Thr)
c.4444C>A (p.Pro1482Thr)
c.2782C>A (p.Pro928Thr)
Xg.108687613C>GCA413854445COL4A5c.4447C>G (p.Pro1483Ala)
c.4429C>G (p.Pro1477Ala)
n.941C>G
c.243C>G
c.4438C>G (p.Pro1480Ala)
c.4123C>G (p.Pro1375Ala)
c.2020C>G (p.Pro674Ala)
c.4462C>G (p.Pro1488Ala)
c.4453C>G (p.Pro1485Ala)
c.4444C>G (p.Pro1482Ala)
c.2782C>G (p.Pro928Ala)
Xg.108687613C>TCA413854443COL4A5c.4447C>T (p.Pro1483Ser)
c.4429C>T (p.Pro1477Ser)
n.941C>T
c.243C>T
c.4438C>T (p.Pro1480Ser)
c.4123C>T (p.Pro1375Ser)
c.2020C>T (p.Pro674Ser)
c.4462C>T (p.Pro1488Ser)
c.4453C>T (p.Pro1485Ser)
c.4444C>T (p.Pro1482Ser)
c.2782C>T (p.Pro928Ser)
Xg.108687614C>ACA413854451COL4A5c.4448C>A (p.Pro1483Gln)
c.4430C>A (p.Pro1477Gln)
n.942C>A
c.244C>A
c.4439C>A (p.Pro1480Gln)
c.4124C>A (p.Pro1375Gln)
c.2021C>A (p.Pro674Gln)
c.4463C>A (p.Pro1488Gln)
c.4454C>A (p.Pro1485Gln)
c.4445C>A (p.Pro1482Gln)
c.2783C>A (p.Pro928Gln)
Xg.108687614C>GCA413854456COL4A5c.4448C>G (p.Pro1483Arg)
c.4430C>G (p.Pro1477Arg)
n.942C>G
c.244C>G
c.4439C>G (p.Pro1480Arg)
c.4124C>G (p.Pro1375Arg)
c.2021C>G (p.Pro674Arg)
c.4463C>G (p.Pro1488Arg)
c.4454C>G (p.Pro1485Arg)
c.4445C>G (p.Pro1482Arg)
c.2783C>G (p.Pro928Arg)
Xg.108687614C>TCA413854453COL4A5c.4448C>T (p.Pro1483Leu)
c.4430C>T (p.Pro1477Leu)
n.942C>T
c.244C>T
c.4439C>T (p.Pro1480Leu)
c.4124C>T (p.Pro1375Leu)
c.2021C>T (p.Pro674Leu)
c.4463C>T (p.Pro1488Leu)
c.4454C>T (p.Pro1485Leu)
c.4445C>T (p.Pro1482Leu)
c.2783C>T (p.Pro928Leu)
Xg.108687614_108687615insCCAAACACACCCAACCA2822894484COL4A5c.4448_4449insCCAAACACACCCAAC (p.Pro1483_Gln1484insGlnThrHisProThr)
c.4430_4431insCCAAACACACCCAAC (p.Pro1477_Gln1478insGlnThrHisProThr)
n.942_943insCCAAACACACCCAAC
c.244_245insCCAAACACACCCAAC
c.4439_4440insCCAAACACACCCAAC (p.Pro1480_Gln1481insGlnThrHisProThr)
c.4124_4125insCCAAACACACCCAAC (p.Pro1375_Gln1376insGlnThrHisProThr)
c.2021_2022insCCAAACACACCCAAC (p.Pro674_Gln675insGlnThrHisProThr)
c.4463_4464insCCAAACACACCCAAC (p.Pro1488_Gln1489insGlnThrHisProThr)
c.4454_4455insCCAAACACACCCAAC (p.Pro1485_Gln1486insGlnThrHisProThr)
c.4445_4446insCCAAACACACCCAAC (p.Pro1482_Gln1483insGlnThrHisProThr)
c.2783_2784insCCAAACACACCCAAC (p.Pro928_Gln929insGlnThrHisProThr)
Xg.108687615A=CA2450719167COL4A5c.4449A= (p.Pro1483=)
c.4431A= (p.Pro1477=)
n.943A=
c.245A=
c.4440A= (p.Pro1480=)
c.4125A= (p.Pro1375=)
c.2022A= (p.Pro674=)
c.4464A= (p.Pro1488=)
c.4455A= (p.Pro1485=)
c.4446A= (p.Pro1482=)
c.2784A= (p.Pro928=)
Xg.108687615A>CCA517924608COL4A5c.4449A>C (p.Pro1483=)
c.4431A>C (p.Pro1477=)
n.943A>C
c.245A>C
c.4440A>C (p.Pro1480=)
c.4125A>C (p.Pro1375=)
c.2022A>C (p.Pro674=)
c.4464A>C (p.Pro1488=)
c.4455A>C (p.Pro1485=)
c.4446A>C (p.Pro1482=)
c.2784A>C (p.Pro928=)
 ClinVar
Xg.108687615A>GCA517924609COL4A5c.4449A>G (p.Pro1483=)
c.4431A>G (p.Pro1477=)
n.943A>G
c.245A>G
c.4440A>G (p.Pro1480=)
c.4125A>G (p.Pro1375=)
c.2022A>G (p.Pro674=)
c.4464A>G (p.Pro1488=)
c.4455A>G (p.Pro1485=)
c.4446A>G (p.Pro1482=)
c.2784A>G (p.Pro928=)
 ClinVar dbSNP gnomAD v4
Xg.108687615A>TCA517924610COL4A5c.4449A>T (p.Pro1483=)
c.4431A>T (p.Pro1477=)
n.943A>T
c.245A>T
c.4440A>T (p.Pro1480=)
c.4125A>T (p.Pro1375=)
c.2022A>T (p.Pro674=)
c.4464A>T (p.Pro1488=)
c.4455A>T (p.Pro1485=)
c.4446A>T (p.Pro1482=)
c.2784A>T (p.Pro928=)
Xg.108687616C>ACA413854459COL4A5c.4450C>A (p.Gln1484Lys)
c.4432C>A (p.Gln1478Lys)
n.944C>A
c.246C>A
c.4441C>A (p.Gln1481Lys)
c.4126C>A (p.Gln1376Lys)
c.2023C>A (p.Gln675Lys)
c.4465C>A (p.Gln1489Lys)
c.4456C>A (p.Gln1486Lys)
c.4447C>A (p.Gln1483Lys)
c.2785C>A (p.Gln929Lys)
Xg.108687616C>GCA413854463COL4A5c.4450C>G (p.Gln1484Glu)
c.4432C>G (p.Gln1478Glu)
n.944C>G
c.246C>G
c.4441C>G (p.Gln1481Glu)
c.4126C>G (p.Gln1376Glu)
c.2023C>G (p.Gln675Glu)
c.4465C>G (p.Gln1489Glu)
c.4456C>G (p.Gln1486Glu)
c.4447C>G (p.Gln1483Glu)
c.2785C>G (p.Gln929Glu)
Xg.108687616C>TCA413854462COL4A5c.4450C>T (p.Gln1484Ter)
c.4432C>T (p.Gln1478Ter)
n.944C>T
c.246C>T
c.4441C>T (p.Gln1481Ter)
c.4126C>T (p.Gln1376Ter)
c.2023C>T (p.Gln675Ter)
c.4465C>T (p.Gln1489Ter)
c.4456C>T (p.Gln1486Ter)
c.4447C>T (p.Gln1483Ter)
c.2785C>T (p.Gln929Ter)
Xg.108687617A=CA2450719172COL4A5c.4451A= (p.Gln1484=)
c.4433A= (p.Gln1478=)
n.945A=
c.247A=
c.4442A= (p.Gln1481=)
c.4127A= (p.Gln1376=)
c.2024A= (p.Gln675=)
c.4466A= (p.Gln1489=)
c.4457A= (p.Gln1486=)
c.4448A= (p.Gln1483=)
c.2786A= (p.Gln929=)
Xg.108687617A>CCA10489354COL4A5c.4451A>C (p.Gln1484Pro)
c.4433A>C (p.Gln1478Pro)
n.945A>C
c.247A>C
c.4442A>C (p.Gln1481Pro)
c.4127A>C (p.Gln1376Pro)
c.2024A>C (p.Gln675Pro)
c.4466A>C (p.Gln1489Pro)
c.4457A>C (p.Gln1486Pro)
c.4448A>C (p.Gln1483Pro)
c.2786A>C (p.Gln929Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108687617A>GCA413854470COL4A5c.4451A>G (p.Gln1484Arg)
c.4433A>G (p.Gln1478Arg)
n.945A>G
c.247A>G
c.4442A>G (p.Gln1481Arg)
c.4127A>G (p.Gln1376Arg)
c.2024A>G (p.Gln675Arg)
c.4466A>G (p.Gln1489Arg)
c.4457A>G (p.Gln1486Arg)
c.4448A>G (p.Gln1483Arg)
c.2786A>G (p.Gln929Arg)
Xg.108687617A>TCA413854467COL4A5c.4451A>T (p.Gln1484Leu)
c.4433A>T (p.Gln1478Leu)
n.945A>T
c.247A>T
c.4442A>T (p.Gln1481Leu)
c.4127A>T (p.Gln1376Leu)
c.2024A>T (p.Gln675Leu)
c.4466A>T (p.Gln1489Leu)
c.4457A>T (p.Gln1486Leu)
c.4448A>T (p.Gln1483Leu)
c.2786A>T (p.Gln929Leu)
Xg.108687618G>ACA517924611COL4A5c.4452G>A (p.Gln1484=)
c.4434G>A (p.Gln1478=)
n.946G>A
c.248G>A
c.4443G>A (p.Gln1481=)
c.4128G>A (p.Gln1376=)
c.2025G>A (p.Gln675=)
c.4467G>A (p.Gln1489=)
c.4458G>A (p.Gln1486=)
c.4449G>A (p.Gln1483=)
c.2787G>A (p.Gln929=)
 gnomAD v4
Xg.108687618G>CCA413854473COL4A5c.4452G>C (p.Gln1484His)
c.4434G>C (p.Gln1478His)
n.946G>C
c.248G>C
c.4443G>C (p.Gln1481His)
c.4128G>C (p.Gln1376His)
c.2025G>C (p.Gln675His)
c.4467G>C (p.Gln1489His)
c.4458G>C (p.Gln1486His)
c.4449G>C (p.Gln1483His)
c.2787G>C (p.Gln929His)
Xg.108687618G>TCA413854476COL4A5c.4452G>T (p.Gln1484His)
c.4434G>T (p.Gln1478His)
n.946G>T
c.248G>T
c.4443G>T (p.Gln1481His)
c.4128G>T (p.Gln1376His)
c.2025G>T (p.Gln675His)
c.4467G>T (p.Gln1489His)
c.4458G>T (p.Gln1486His)
c.4449G>T (p.Gln1483His)
c.2787G>T (p.Gln929His)
Xg.108687620dupCA334059151COL4A5c.4454dup (p.Thr1486AsnfsTer6)
c.4436dup (p.Thr1480AsnfsTer6)
n.948dup
c.250dup
c.4445dup (p.Thr1483AsnfsTer6)
c.4130dup (p.Thr1378AsnfsTer6)
c.2027dup (p.Thr677AsnfsTer6)
c.4469dup (p.Thr1491AsnfsTer6)
c.4460dup (p.Thr1488AsnfsTer6)
c.4451dup (p.Thr1485AsnfsTer6)
c.2789dup (p.Thr931AsnfsTer6)
 dbSNP
Xg.108687620delCA2580100174COL4A5c.4454del (p.Gly1485GlufsTer?)
c.4436del (p.Gly1479GlufsTer?)
n.948del
c.250del
c.4445del (p.Gly1482GlufsTer?)
c.4130del (p.Gly1377GlufsTer?)
c.2027del (p.Gly676GlufsTer?)
c.4469del (p.Gly1490GlufsTer?)
c.4460del (p.Gly1487GlufsTer?)
c.4451del (p.Gly1484GlufsTer?)
c.2789del (p.Gly930GlufsTer?)
 ClinVar
Xg.108687619G>ACA413854479COL4A5c.4453G>A (p.Gly1485Arg)
c.4435G>A (p.Gly1479Arg)
n.947G>A
c.249G>A
c.4444G>A (p.Gly1482Arg)
c.4129G>A (p.Gly1377Arg)
c.2026G>A (p.Gly676Arg)
c.4468G>A (p.Gly1490Arg)
c.4459G>A (p.Gly1487Arg)
c.4450G>A (p.Gly1484Arg)
c.2788G>A (p.Gly930Arg)
 gnomAD v4
Xg.108687619G>CCA413854482COL4A5c.4453G>C (p.Gly1485Arg)
c.4435G>C (p.Gly1479Arg)
n.947G>C
c.249G>C
c.4444G>C (p.Gly1482Arg)
c.4129G>C (p.Gly1377Arg)
c.2026G>C (p.Gly676Arg)
c.4468G>C (p.Gly1490Arg)
c.4459G>C (p.Gly1487Arg)
c.4450G>C (p.Gly1484Arg)
c.2788G>C (p.Gly930Arg)
Xg.108687619G>TCA413854485COL4A5c.4453G>T (p.Gly1485Ter)
c.4435G>T (p.Gly1479Ter)
n.947G>T
c.249G>T
c.4444G>T (p.Gly1482Ter)
c.4129G>T (p.Gly1377Ter)
c.2026G>T (p.Gly676Ter)
c.4468G>T (p.Gly1490Ter)
c.4459G>T (p.Gly1487Ter)
c.4450G>T (p.Gly1484Ter)
c.2788G>T (p.Gly930Ter)
Xg.108687619_108687621delinsGGACA2450719178COL4A5c.4453_4455delinsGGA (p.Gly1485=)
c.4435_4437delinsGGA (p.Gly1479=)
n.947_949delinsGGA
c.249_251delinsGGA
c.4444_4446delinsGGA (p.Gly1482=)
c.4129_4131delinsGGA (p.Gly1377=)
c.2026_2028delinsGGA (p.Gly676=)
c.4468_4470delinsGGA (p.Gly1490=)
c.4459_4461delinsGGA (p.Gly1487=)
c.4450_4452delinsGGA (p.Gly1484=)
c.2788_2790delinsGGA (p.Gly930=)
Xg.108687621_108687631delCA2740092259COL4A5c.4455_4465del (p.Thr1486LeufsTer2)
c.4437_4447del (p.Thr1480LeufsTer2)
n.949_959del
c.251_261del
c.4446_4456del (p.Thr1483LeufsTer2)
c.4131_4141del (p.Thr1378LeufsTer2)
c.2028_2038del (p.Thr677LeufsTer2)
c.4470_4480del (p.Thr1491LeufsTer2)
c.4461_4471del (p.Thr1488LeufsTer2)
c.4452_4462del (p.Thr1485LeufsTer2)
c.2790_2800del (p.Thr931LeufsTer2)
 ClinVar
Xg.108687620G>ACA413854488COL4A5c.4454G>A (p.Gly1485Glu)
c.4436G>A (p.Gly1479Glu)
n.948G>A
c.250G>A
c.4445G>A (p.Gly1482Glu)
c.4130G>A (p.Gly1377Glu)
c.2027G>A (p.Gly676Glu)
c.4469G>A (p.Gly1490Glu)
c.4460G>A (p.Gly1487Glu)
c.4451G>A (p.Gly1484Glu)
c.2789G>A (p.Gly930Glu)
 ClinVar dbSNP COSMIC COSMIC
Xg.108687620G>CCA413854493COL4A5c.4454G>C (p.Gly1485Ala)
c.4436G>C (p.Gly1479Ala)
n.948G>C
c.250G>C
c.4445G>C (p.Gly1482Ala)
c.4130G>C (p.Gly1377Ala)
c.2027G>C (p.Gly676Ala)
c.4469G>C (p.Gly1490Ala)
c.4460G>C (p.Gly1487Ala)
c.4451G>C (p.Gly1484Ala)
c.2789G>C (p.Gly930Ala)
Xg.108687620G=CA2450719186COL4A5c.4454G= (p.Gly1485=)
c.4436G= (p.Gly1479=)
n.948G=
c.250G=
c.4445G= (p.Gly1482=)
c.4130G= (p.Gly1377=)
c.2027G= (p.Gly676=)
c.4469G= (p.Gly1490=)
c.4460G= (p.Gly1487=)
c.4451G= (p.Gly1484=)
c.2789G= (p.Gly930=)
Xg.108687620G>TCA413854496COL4A5c.4454G>T (p.Gly1485Val)
c.4436G>T (p.Gly1479Val)
n.948G>T
c.250G>T
c.4445G>T (p.Gly1482Val)
c.4130G>T (p.Gly1377Val)
c.2027G>T (p.Gly676Val)
c.4469G>T (p.Gly1490Val)
c.4460G>T (p.Gly1487Val)
c.4451G>T (p.Gly1484Val)
c.2789G>T (p.Gly930Val)
Xg.108687620_108687621delCA259046COL4A5c.4454_4455del (p.Gly1485AspfsTer6)
c.4436_4437del (p.Gly1479AspfsTer6)
n.948_949del
c.250_251del
c.4445_4446del (p.Gly1482AspfsTer6)
c.4130_4131del (p.Gly1377AspfsTer6)
c.2027_2028del (p.Gly676AspfsTer6)
c.4469_4470del (p.Gly1490AspfsTer6)
c.4460_4461del (p.Gly1487AspfsTer6)
c.4451_4452del (p.Gly1484AspfsTer6)
c.2789_2790del (p.Gly930AspfsTer6)
 dbSNP
Xg.108687620_108687621delinsGACA2450719187COL4A5c.4454_4455delinsGA (p.Gly1485=)
c.4436_4437delinsGA (p.Gly1479=)
n.948_949delinsGA
c.250_251delinsGA
c.4445_4446delinsGA (p.Gly1482=)
c.4130_4131delinsGA (p.Gly1377=)
c.2027_2028delinsGA (p.Gly676=)
c.4469_4470delinsGA (p.Gly1490=)
c.4460_4461delinsGA (p.Gly1487=)
c.4451_4452delinsGA (p.Gly1484=)
c.2789_2790delinsGA (p.Gly930=)
Xg.108687621A>CCA517924615COL4A5c.4455A>C (p.Gly1485=)
c.4437A>C (p.Gly1479=)
n.949A>C
c.251A>C
c.4446A>C (p.Gly1482=)
c.4131A>C (p.Gly1377=)
c.2028A>C (p.Gly676=)
c.4470A>C (p.Gly1490=)
c.4461A>C (p.Gly1487=)
c.4452A>C (p.Gly1484=)
c.2790A>C (p.Gly930=)
Xg.108687621A>GCA517924616COL4A5c.4455A>G (p.Gly1485=)
c.4437A>G (p.Gly1479=)
n.949A>G
c.251A>G
c.4446A>G (p.Gly1482=)
c.4131A>G (p.Gly1377=)
c.2028A>G (p.Gly676=)
c.4470A>G (p.Gly1490=)
c.4461A>G (p.Gly1487=)
c.4452A>G (p.Gly1484=)
c.2790A>G (p.Gly930=)
Xg.108687621A>TCA517924617COL4A5c.4455A>T (p.Gly1485=)
c.4437A>T (p.Gly1479=)
n.949A>T
c.251A>T
c.4446A>T (p.Gly1482=)
c.4131A>T (p.Gly1377=)
c.2028A>T (p.Gly676=)
c.4470A>T (p.Gly1490=)
c.4461A>T (p.Gly1487=)
c.4452A>T (p.Gly1484=)
c.2790A>T (p.Gly930=)
Xg.108687622delCA259047COL4A5c.4456del (p.Thr1486HisfsTer?)
c.4438del (p.Thr1480HisfsTer?)
n.950del
c.252del
c.4447del (p.Thr1483HisfsTer?)
c.4132del (p.Thr1378HisfsTer?)
c.2029del (p.Thr677HisfsTer?)
c.4471del (p.Thr1491HisfsTer?)
c.4462del (p.Thr1488HisfsTer?)
c.4453del (p.Thr1485HisfsTer?)
c.2791del (p.Thr931HisfsTer?)
 dbSNP
Xg.108687622A=CA2450719195COL4A5c.4456A= (p.Thr1486=)
c.4438A= (p.Thr1480=)
n.950A=
c.252A=
c.4447A= (p.Thr1483=)
c.4132A= (p.Thr1378=)
c.2029A= (p.Thr677=)
c.4471A= (p.Thr1491=)
c.4462A= (p.Thr1488=)
c.4453A= (p.Thr1485=)
c.2791A= (p.Thr931=)
Xg.108687622A>CCA413854509COL4A5c.4456A>C (p.Thr1486Pro)
c.4438A>C (p.Thr1480Pro)
n.950A>C
c.252A>C
c.4447A>C (p.Thr1483Pro)
c.4132A>C (p.Thr1378Pro)
c.2029A>C (p.Thr677Pro)
c.4471A>C (p.Thr1491Pro)
c.4462A>C (p.Thr1488Pro)
c.4453A>C (p.Thr1485Pro)
c.2791A>C (p.Thr931Pro)
Xg.108687622A>GCA413854503COL4A5c.4456A>G (p.Thr1486Ala)
c.4438A>G (p.Thr1480Ala)
n.950A>G
c.252A>G
c.4447A>G (p.Thr1483Ala)
c.4132A>G (p.Thr1378Ala)
c.2029A>G (p.Thr677Ala)
c.4471A>G (p.Thr1491Ala)
c.4462A>G (p.Thr1488Ala)
c.4453A>G (p.Thr1485Ala)
c.2791A>G (p.Thr931Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687622A>TCA413854506COL4A5c.4456A>T (p.Thr1486Ser)
c.4438A>T (p.Thr1480Ser)
n.950A>T
c.252A>T
c.4447A>T (p.Thr1483Ser)
c.4132A>T (p.Thr1378Ser)
c.2029A>T (p.Thr677Ser)
c.4471A>T (p.Thr1491Ser)
c.4462A>T (p.Thr1488Ser)
c.4453A>T (p.Thr1485Ser)
c.2791A>T (p.Thr931Ser)
Xg.108687623C>ACA413854512COL4A5c.4457C>A (p.Thr1486Lys)
c.4439C>A (p.Thr1480Lys)
n.951C>A
c.253C>A
c.4448C>A (p.Thr1483Lys)
c.4133C>A (p.Thr1378Lys)
c.2030C>A (p.Thr677Lys)
c.4472C>A (p.Thr1491Lys)
c.4463C>A (p.Thr1488Lys)
c.4454C>A (p.Thr1485Lys)
c.2792C>A (p.Thr931Lys)
Xg.108687623C=CA2450719197COL4A5c.4457C= (p.Thr1486=)
c.4439C= (p.Thr1480=)
n.951C=
c.253C=
c.4448C= (p.Thr1483=)
c.4133C= (p.Thr1378=)
c.2030C= (p.Thr677=)
c.4472C= (p.Thr1491=)
c.4463C= (p.Thr1488=)
c.4454C= (p.Thr1485=)
c.2792C= (p.Thr931=)
Xg.108687623C>GCA261102COL4A5c.4457C>G (p.Thr1486Arg)
c.4439C>G (p.Thr1480Arg)
n.951C>G
c.253C>G
c.4448C>G (p.Thr1483Arg)
c.4133C>G (p.Thr1378Arg)
c.2030C>G (p.Thr677Arg)
c.4472C>G (p.Thr1491Arg)
c.4463C>G (p.Thr1488Arg)
c.4454C>G (p.Thr1485Arg)
c.2792C>G (p.Thr931Arg)
 dbSNP
Xg.108687623C>TCA413854516COL4A5c.4457C>T (p.Thr1486Ile)
c.4439C>T (p.Thr1480Ile)
n.951C>T
c.253C>T
c.4448C>T (p.Thr1483Ile)
c.4133C>T (p.Thr1378Ile)
c.2030C>T (p.Thr677Ile)
c.4472C>T (p.Thr1491Ile)
c.4463C>T (p.Thr1488Ile)
c.4454C>T (p.Thr1485Ile)
c.2792C>T (p.Thr931Ile)
Xg.108687624A=CA2450719199COL4A5c.4458A= (p.Thr1486=)
c.4440A= (p.Thr1480=)
n.952A=
c.254A=
c.4449A= (p.Thr1483=)
c.4134A= (p.Thr1378=)
c.2031A= (p.Thr677=)
c.4473A= (p.Thr1491=)
c.4464A= (p.Thr1488=)
c.4455A= (p.Thr1485=)
c.2793A= (p.Thr931=)
Xg.108687624A>CCA517924620COL4A5c.4458A>C (p.Thr1486=)
c.4440A>C (p.Thr1480=)
n.952A>C
c.254A>C
c.4449A>C (p.Thr1483=)
c.4134A>C (p.Thr1378=)
c.2031A>C (p.Thr677=)
c.4473A>C (p.Thr1491=)
c.4464A>C (p.Thr1488=)
c.4455A>C (p.Thr1485=)
c.2793A>C (p.Thr931=)
Xg.108687624A>GCA517924622COL4A5c.4458A>G (p.Thr1486=)
c.4440A>G (p.Thr1480=)
n.952A>G
c.254A>G
c.4449A>G (p.Thr1483=)
c.4134A>G (p.Thr1378=)
c.2031A>G (p.Thr677=)
c.4473A>G (p.Thr1491=)
c.4464A>G (p.Thr1488=)
c.4455A>G (p.Thr1485=)
c.2793A>G (p.Thr931=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108687624A>TCA517924621COL4A5c.4458A>T (p.Thr1486=)
c.4440A>T (p.Thr1480=)
n.952A>T
c.254A>T
c.4449A>T (p.Thr1483=)
c.4134A>T (p.Thr1378=)
c.2031A>T (p.Thr677=)
c.4473A>T (p.Thr1491=)
c.4464A>T (p.Thr1488=)
c.4455A>T (p.Thr1485=)
c.2793A>T (p.Thr931=)
Xg.108687625C>ACA413854521COL4A5c.4459C>A (p.Leu1487Ile)
c.4441C>A (p.Leu1481Ile)
n.953C>A
c.255C>A
c.4450C>A (p.Leu1484Ile)
c.4135C>A (p.Leu1379Ile)
c.2032C>A (p.Leu678Ile)
c.4474C>A (p.Leu1492Ile)
c.4465C>A (p.Leu1489Ile)
c.4456C>A (p.Leu1486Ile)
c.2794C>A (p.Leu932Ile)
Xg.108687625C>GCA413854523COL4A5c.4459C>G (p.Leu1487Val)
c.4441C>G (p.Leu1481Val)
n.953C>G
c.255C>G
c.4450C>G (p.Leu1484Val)
c.4135C>G (p.Leu1379Val)
c.2032C>G (p.Leu678Val)
c.4474C>G (p.Leu1492Val)
c.4465C>G (p.Leu1489Val)
c.4456C>G (p.Leu1486Val)
c.2794C>G (p.Leu932Val)
Xg.108687625C>TCA413854527COL4A5c.4459C>T (p.Leu1487Phe)
c.4441C>T (p.Leu1481Phe)
n.953C>T
c.255C>T
c.4450C>T (p.Leu1484Phe)
c.4135C>T (p.Leu1379Phe)
c.2032C>T (p.Leu678Phe)
c.4474C>T (p.Leu1492Phe)
c.4465C>T (p.Leu1489Phe)
c.4456C>T (p.Leu1486Phe)
c.2794C>T (p.Leu932Phe)
 ClinVar
Xg.108687626T>ACA413854531COL4A5c.4460T>A (p.Leu1487His)
c.4442T>A (p.Leu1481His)
n.954T>A
c.256T>A
c.4451T>A (p.Leu1484His)
c.4136T>A (p.Leu1379His)
c.2033T>A (p.Leu678His)
c.4475T>A (p.Leu1492His)
c.4466T>A (p.Leu1489His)
c.4457T>A (p.Leu1486His)
c.2795T>A (p.Leu932His)
Xg.108687626T>CCA413854534COL4A5c.4460T>C (p.Leu1487Pro)
c.4442T>C (p.Leu1481Pro)
n.954T>C
c.256T>C
c.4451T>C (p.Leu1484Pro)
c.4136T>C (p.Leu1379Pro)
c.2033T>C (p.Leu678Pro)
c.4475T>C (p.Leu1492Pro)
c.4466T>C (p.Leu1489Pro)
c.4457T>C (p.Leu1486Pro)
c.2795T>C (p.Leu932Pro)
 gnomAD v4
Xg.108687626T>GCA413854537COL4A5c.4460T>G (p.Leu1487Arg)
c.4442T>G (p.Leu1481Arg)
n.954T>G
c.256T>G
c.4451T>G (p.Leu1484Arg)
c.4136T>G (p.Leu1379Arg)
c.2033T>G (p.Leu678Arg)
c.4475T>G (p.Leu1492Arg)
c.4466T>G (p.Leu1489Arg)
c.4457T>G (p.Leu1486Arg)
c.2795T>G (p.Leu932Arg)

Number of alleles fetched