Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108687648T>ACA517924647COL4A5c.4482T>A (p.Ser1494=)
c.4464T>A (p.Ser1488=)
n.976T>A
c.278T>A
c.4473T>A (p.Ser1491=)
c.4158T>A (p.Ser1386=)
c.2055T>A (p.Ser685=)
c.4497T>A (p.Ser1499=)
c.4488T>A (p.Ser1496=)
c.4479T>A (p.Ser1493=)
c.2817T>A (p.Ser939=)
 COSMIC COSMIC
Xg.108687648T>CCA517924648COL4A5c.4482T>C (p.Ser1494=)
c.4464T>C (p.Ser1488=)
n.976T>C
c.278T>C
c.4473T>C (p.Ser1491=)
c.4158T>C (p.Ser1386=)
c.2055T>C (p.Ser685=)
c.4497T>C (p.Ser1499=)
c.4488T>C (p.Ser1496=)
c.4479T>C (p.Ser1493=)
c.2817T>C (p.Ser939=)
Xg.108687648T>GCA517924649COL4A5c.4482T>G (p.Ser1494=)
c.4464T>G (p.Ser1488=)
n.976T>G
c.278T>G
c.4473T>G (p.Ser1491=)
c.4158T>G (p.Ser1386=)
c.2055T>G (p.Ser685=)
c.4497T>G (p.Ser1499=)
c.4488T>G (p.Ser1496=)
c.4479T>G (p.Ser1493=)
c.2817T>G (p.Ser939=)
Xg.108687649C>ACA413854639COL4A5c.4483C>A (p.Leu1495Ile)
c.4465C>A (p.Leu1489Ile)
n.977C>A
c.279C>A
c.4474C>A (p.Leu1492Ile)
c.4159C>A (p.Leu1387Ile)
c.2056C>A (p.Leu686Ile)
c.4498C>A (p.Leu1500Ile)
c.4489C>A (p.Leu1497Ile)
c.4480C>A (p.Leu1494Ile)
c.2818C>A (p.Leu940Ile)
Xg.108687649C=CA2450719229COL4A5c.4483C= (p.Leu1495=)
c.4465C= (p.Leu1489=)
n.977C=
c.279C=
c.4474C= (p.Leu1492=)
c.4159C= (p.Leu1387=)
c.2056C= (p.Leu686=)
c.4498C= (p.Leu1500=)
c.4489C= (p.Leu1497=)
c.4480C= (p.Leu1494=)
c.2818C= (p.Leu940=)
Xg.108687649C>GCA413854641COL4A5c.4483C>G (p.Leu1495Val)
c.4465C>G (p.Leu1489Val)
n.977C>G
c.279C>G
c.4474C>G (p.Leu1492Val)
c.4159C>G (p.Leu1387Val)
c.2056C>G (p.Leu686Val)
c.4498C>G (p.Leu1500Val)
c.4489C>G (p.Leu1497Val)
c.4480C>G (p.Leu1494Val)
c.2818C>G (p.Leu940Val)
Xg.108687649C>TCA413854643COL4A5c.4483C>T (p.Leu1495Phe)
c.4465C>T (p.Leu1489Phe)
n.977C>T
c.279C>T
c.4474C>T (p.Leu1492Phe)
c.4159C>T (p.Leu1387Phe)
c.2056C>T (p.Leu686Phe)
c.4498C>T (p.Leu1500Phe)
c.4489C>T (p.Leu1497Phe)
c.4480C>T (p.Leu1494Phe)
c.2818C>T (p.Leu940Phe)
 dbSNP
Xg.108687650T>ACA413854645COL4A5c.4484T>A (p.Leu1495His)
c.4466T>A (p.Leu1489His)
n.978T>A
c.280T>A
c.4475T>A (p.Leu1492His)
c.4160T>A (p.Leu1387His)
c.2057T>A (p.Leu686His)
c.4499T>A (p.Leu1500His)
c.4490T>A (p.Leu1497His)
c.4481T>A (p.Leu1494His)
c.2819T>A (p.Leu940His)
Xg.108687650T>CCA413854647COL4A5c.4484T>C (p.Leu1495Pro)
c.4466T>C (p.Leu1489Pro)
n.978T>C
c.280T>C
c.4475T>C (p.Leu1492Pro)
c.4160T>C (p.Leu1387Pro)
c.2057T>C (p.Leu686Pro)
c.4499T>C (p.Leu1500Pro)
c.4490T>C (p.Leu1497Pro)
c.4481T>C (p.Leu1494Pro)
c.2819T>C (p.Leu940Pro)
Xg.108687650T>GCA413854649COL4A5c.4484T>G (p.Leu1495Arg)
c.4466T>G (p.Leu1489Arg)
n.978T>G
c.280T>G
c.4475T>G (p.Leu1492Arg)
c.4160T>G (p.Leu1387Arg)
c.2057T>G (p.Leu686Arg)
c.4499T>G (p.Leu1500Arg)
c.4490T>G (p.Leu1497Arg)
c.4481T>G (p.Leu1494Arg)
c.2819T>G (p.Leu940Arg)
Xg.108687651C>ACA10489359COL4A5c.4485C>A (p.Leu1495=)
c.4467C>A (p.Leu1489=)
n.979C>A
c.281C>A
c.4476C>A (p.Leu1492=)
c.4161C>A (p.Leu1387=)
c.2058C>A (p.Leu686=)
c.4500C>A (p.Leu1500=)
c.4491C>A (p.Leu1497=)
c.4482C>A (p.Leu1494=)
c.2820C>A (p.Leu940=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108687651C=CA2450719230COL4A5c.4485C= (p.Leu1495=)
c.4467C= (p.Leu1489=)
n.979C=
c.281C=
c.4476C= (p.Leu1492=)
c.4161C= (p.Leu1387=)
c.2058C= (p.Leu686=)
c.4500C= (p.Leu1500=)
c.4491C= (p.Leu1497=)
c.4482C= (p.Leu1494=)
c.2820C= (p.Leu940=)
Xg.108687651C>GCA517924652COL4A5c.4485C>G (p.Leu1495=)
c.4467C>G (p.Leu1489=)
n.979C>G
c.281C>G
c.4476C>G (p.Leu1492=)
c.4161C>G (p.Leu1387=)
c.2058C>G (p.Leu686=)
c.4500C>G (p.Leu1500=)
c.4491C>G (p.Leu1497=)
c.4482C>G (p.Leu1494=)
c.2820C>G (p.Leu940=)
Xg.108687651C>TCA517924651COL4A5c.4485C>T (p.Leu1495=)
c.4467C>T (p.Leu1489=)
n.979C>T
c.281C>T
c.4476C>T (p.Leu1492=)
c.4161C>T (p.Leu1387=)
c.2058C>T (p.Leu686=)
c.4500C>T (p.Leu1500=)
c.4491C>T (p.Leu1497=)
c.4482C>T (p.Leu1494=)
c.2820C>T (p.Leu940=)
 gnomAD v4
Xg.108687652C>ACA413854652COL4A5c.4486C>A (p.Leu1496Met)
c.4468C>A (p.Leu1490Met)
n.980C>A
c.282C>A
c.4477C>A (p.Leu1493Met)
c.4162C>A (p.Leu1388Met)
c.2059C>A (p.Leu687Met)
c.4501C>A (p.Leu1501Met)
c.4492C>A (p.Leu1498Met)
c.4483C>A (p.Leu1495Met)
c.2821C>A (p.Leu941Met)
Xg.108687652C>GCA413854654COL4A5c.4486C>G (p.Leu1496Val)
c.4468C>G (p.Leu1490Val)
n.980C>G
c.282C>G
c.4477C>G (p.Leu1493Val)
c.4162C>G (p.Leu1388Val)
c.2059C>G (p.Leu687Val)
c.4501C>G (p.Leu1501Val)
c.4492C>G (p.Leu1498Val)
c.4483C>G (p.Leu1495Val)
c.2821C>G (p.Leu941Val)
Xg.108687652C>TCA517924654COL4A5c.4486C>T (p.Leu1496=)
c.4468C>T (p.Leu1490=)
n.980C>T
c.282C>T
c.4477C>T (p.Leu1493=)
c.4162C>T (p.Leu1388=)
c.2059C>T (p.Leu687=)
c.4501C>T (p.Leu1501=)
c.4492C>T (p.Leu1498=)
c.4483C>T (p.Leu1495=)
c.2821C>T (p.Leu941=)
 ClinVar
Xg.108687653T>ACA413854657COL4A5c.4487T>A (p.Leu1496Gln)
c.4469T>A (p.Leu1490Gln)
n.981T>A
c.283T>A
c.4478T>A (p.Leu1493Gln)
c.4163T>A (p.Leu1388Gln)
c.2060T>A (p.Leu687Gln)
c.4502T>A (p.Leu1501Gln)
c.4493T>A (p.Leu1498Gln)
c.4484T>A (p.Leu1495Gln)
c.2822T>A (p.Leu941Gln)
Xg.108687653T>CCA413854658COL4A5c.4487T>C (p.Leu1496Pro)
c.4469T>C (p.Leu1490Pro)
n.981T>C
c.283T>C
c.4478T>C (p.Leu1493Pro)
c.4163T>C (p.Leu1388Pro)
c.2060T>C (p.Leu687Pro)
c.4502T>C (p.Leu1501Pro)
c.4493T>C (p.Leu1498Pro)
c.4484T>C (p.Leu1495Pro)
c.2822T>C (p.Leu941Pro)
Xg.108687653T>GCA413854660COL4A5c.4487T>G (p.Leu1496Arg)
c.4469T>G (p.Leu1490Arg)
n.981T>G
c.283T>G
c.4478T>G (p.Leu1493Arg)
c.4163T>G (p.Leu1388Arg)
c.2060T>G (p.Leu687Arg)
c.4502T>G (p.Leu1501Arg)
c.4493T>G (p.Leu1498Arg)
c.4484T>G (p.Leu1495Arg)
c.2822T>G (p.Leu941Arg)
Xg.108687654G>ACA517924655COL4A5c.4488G>A (p.Leu1496=)
c.4470G>A (p.Leu1490=)
n.982G>A
c.284G>A
c.4479G>A (p.Leu1493=)
c.4164G>A (p.Leu1388=)
c.2061G>A (p.Leu687=)
c.4503G>A (p.Leu1501=)
c.4494G>A (p.Leu1498=)
c.4485G>A (p.Leu1495=)
c.2823G>A (p.Leu941=)
 ClinVar gnomAD v4
Xg.108687654G>CCA517924657COL4A5c.4488G>C (p.Leu1496=)
c.4470G>C (p.Leu1490=)
n.982G>C
c.284G>C
c.4479G>C (p.Leu1493=)
c.4164G>C (p.Leu1388=)
c.2061G>C (p.Leu687=)
c.4503G>C (p.Leu1501=)
c.4494G>C (p.Leu1498=)
c.4485G>C (p.Leu1495=)
c.2823G>C (p.Leu941=)
Xg.108687654G>TCA517924658COL4A5c.4488G>T (p.Leu1496=)
c.4470G>T (p.Leu1490=)
n.982G>T
c.284G>T
c.4479G>T (p.Leu1493=)
c.4164G>T (p.Leu1388=)
c.2061G>T (p.Leu687=)
c.4503G>T (p.Leu1501=)
c.4494G>T (p.Leu1498=)
c.4485G>T (p.Leu1495=)
c.2823G>T (p.Leu941=)
Xg.108687655T>ACA413854663COL4A5c.4489T>A (p.Tyr1497Asn)
c.4471T>A (p.Tyr1491Asn)
n.983T>A
c.285T>A
c.4480T>A (p.Tyr1494Asn)
c.4165T>A (p.Tyr1389Asn)
c.2062T>A (p.Tyr688Asn)
c.4504T>A (p.Tyr1502Asn)
c.4495T>A (p.Tyr1499Asn)
c.4486T>A (p.Tyr1496Asn)
c.2824T>A (p.Tyr942Asn)
Xg.108687655T>CCA413854667COL4A5c.4489T>C (p.Tyr1497His)
c.4471T>C (p.Tyr1491His)
n.983T>C
c.285T>C
c.4480T>C (p.Tyr1494His)
c.4165T>C (p.Tyr1389His)
c.2062T>C (p.Tyr688His)
c.4504T>C (p.Tyr1502His)
c.4495T>C (p.Tyr1499His)
c.4486T>C (p.Tyr1496His)
c.2824T>C (p.Tyr942His)
 gnomAD v4 COSMIC COSMIC
Xg.108687655T>GCA413854664COL4A5c.4489T>G (p.Tyr1497Asp)
c.4471T>G (p.Tyr1491Asp)
n.983T>G
c.285T>G
c.4480T>G (p.Tyr1494Asp)
c.4165T>G (p.Tyr1389Asp)
c.2062T>G (p.Tyr688Asp)
c.4504T>G (p.Tyr1502Asp)
c.4495T>G (p.Tyr1499Asp)
c.4486T>G (p.Tyr1496Asp)
c.2824T>G (p.Tyr942Asp)
Xg.108687656A>CCA413854669COL4A5c.4490A>C (p.Tyr1497Ser)
c.4472A>C (p.Tyr1491Ser)
n.984A>C
c.286A>C
c.4481A>C (p.Tyr1494Ser)
c.4166A>C (p.Tyr1389Ser)
c.2063A>C (p.Tyr688Ser)
c.4505A>C (p.Tyr1502Ser)
c.4496A>C (p.Tyr1499Ser)
c.4487A>C (p.Tyr1496Ser)
c.2825A>C (p.Tyr942Ser)
Xg.108687656A>GCA413854671COL4A5c.4490A>G (p.Tyr1497Cys)
c.4472A>G (p.Tyr1491Cys)
n.984A>G
c.286A>G
c.4481A>G (p.Tyr1494Cys)
c.4166A>G (p.Tyr1389Cys)
c.2063A>G (p.Tyr688Cys)
c.4505A>G (p.Tyr1502Cys)
c.4496A>G (p.Tyr1499Cys)
c.4487A>G (p.Tyr1496Cys)
c.2825A>G (p.Tyr942Cys)
 gnomAD v4
Xg.108687656A>TCA413854673COL4A5c.4490A>T (p.Tyr1497Phe)
c.4472A>T (p.Tyr1491Phe)
n.984A>T
c.286A>T
c.4481A>T (p.Tyr1494Phe)
c.4166A>T (p.Tyr1389Phe)
c.2063A>T (p.Tyr688Phe)
c.4505A>T (p.Tyr1502Phe)
c.4496A>T (p.Tyr1499Phe)
c.4487A>T (p.Tyr1496Phe)
c.2825A>T (p.Tyr942Phe)
Xg.108687657T>ACA413854675COL4A5c.4491T>A (p.Tyr1497Ter)
c.4473T>A (p.Tyr1491Ter)
n.985T>A
c.287T>A
c.4482T>A (p.Tyr1494Ter)
c.4167T>A (p.Tyr1389Ter)
c.2064T>A (p.Tyr688Ter)
c.4506T>A (p.Tyr1502Ter)
c.4497T>A (p.Tyr1499Ter)
c.4488T>A (p.Tyr1496Ter)
c.2826T>A (p.Tyr942Ter)
Xg.108687657T>CCA517924660COL4A5c.4491T>C (p.Tyr1497=)
c.4473T>C (p.Tyr1491=)
n.985T>C
c.287T>C
c.4482T>C (p.Tyr1494=)
c.4167T>C (p.Tyr1389=)
c.2064T>C (p.Tyr688=)
c.4506T>C (p.Tyr1502=)
c.4497T>C (p.Tyr1499=)
c.4488T>C (p.Tyr1496=)
c.2826T>C (p.Tyr942=)
 ClinVar
Xg.108687657T>GCA413854677COL4A5c.4491T>G (p.Tyr1497Ter)
c.4473T>G (p.Tyr1491Ter)
n.985T>G
c.287T>G
c.4482T>G (p.Tyr1494Ter)
c.4167T>G (p.Tyr1389Ter)
c.2064T>G (p.Tyr688Ter)
c.4506T>G (p.Tyr1502Ter)
c.4497T>G (p.Tyr1499Ter)
c.4488T>G (p.Tyr1496Ter)
c.2826T>G (p.Tyr942Ter)
Xg.108687658G>ACA413854680COL4A5c.4492G>A (p.Val1498Ile)
c.4474G>A (p.Val1492Ile)
n.986G>A
c.288G>A
c.4483G>A (p.Val1495Ile)
c.4168G>A (p.Val1390Ile)
c.2065G>A (p.Val689Ile)
c.4507G>A (p.Val1503Ile)
c.4498G>A (p.Val1500Ile)
c.4489G>A (p.Val1497Ile)
c.2827G>A (p.Val943Ile)
Xg.108687658G>CCA413854682COL4A5c.4492G>C (p.Val1498Leu)
c.4474G>C (p.Val1492Leu)
n.986G>C
c.288G>C
c.4483G>C (p.Val1495Leu)
c.4168G>C (p.Val1390Leu)
c.2065G>C (p.Val689Leu)
c.4507G>C (p.Val1503Leu)
c.4498G>C (p.Val1500Leu)
c.4489G>C (p.Val1497Leu)
c.2827G>C (p.Val943Leu)
Xg.108687658G>TCA413854684COL4A5c.4492G>T (p.Val1498Leu)
c.4474G>T (p.Val1492Leu)
n.986G>T
c.288G>T
c.4483G>T (p.Val1495Leu)
c.4168G>T (p.Val1390Leu)
c.2065G>T (p.Val689Leu)
c.4507G>T (p.Val1503Leu)
c.4498G>T (p.Val1500Leu)
c.4489G>T (p.Val1497Leu)
c.2827G>T (p.Val943Leu)
Xg.108687659T>ACA413854686COL4A5c.4493T>A (p.Val1498Glu)
c.4475T>A (p.Val1492Glu)
n.987T>A
c.289T>A
c.4484T>A (p.Val1495Glu)
c.4169T>A (p.Val1390Glu)
c.2066T>A (p.Val689Glu)
c.4508T>A (p.Val1503Glu)
c.4499T>A (p.Val1500Glu)
c.4490T>A (p.Val1497Glu)
c.2828T>A (p.Val943Glu)
Xg.108687659T>CCA413854689COL4A5c.4493T>C (p.Val1498Ala)
c.4475T>C (p.Val1492Ala)
n.987T>C
c.289T>C
c.4484T>C (p.Val1495Ala)
c.4169T>C (p.Val1390Ala)
c.2066T>C (p.Val689Ala)
c.4508T>C (p.Val1503Ala)
c.4499T>C (p.Val1500Ala)
c.4490T>C (p.Val1497Ala)
c.2828T>C (p.Val943Ala)
Xg.108687659T>GCA413854691COL4A5c.4493T>G (p.Val1498Gly)
c.4475T>G (p.Val1492Gly)
n.987T>G
c.289T>G
c.4484T>G (p.Val1495Gly)
c.4169T>G (p.Val1390Gly)
c.2066T>G (p.Val689Gly)
c.4508T>G (p.Val1503Gly)
c.4499T>G (p.Val1500Gly)
c.4490T>G (p.Val1497Gly)
c.2828T>G (p.Val943Gly)
Xg.108687660A>CCA517924666COL4A5c.4494A>C (p.Val1498=)
c.4476A>C (p.Val1492=)
n.988A>C
c.290A>C
c.4485A>C (p.Val1495=)
c.4170A>C (p.Val1390=)
c.2067A>C (p.Val689=)
c.4509A>C (p.Val1503=)
c.4500A>C (p.Val1500=)
c.4491A>C (p.Val1497=)
c.2829A>C (p.Val943=)
Xg.108687660A>GCA517924664COL4A5c.4494A>G (p.Val1498=)
c.4476A>G (p.Val1492=)
n.988A>G
c.290A>G
c.4485A>G (p.Val1495=)
c.4170A>G (p.Val1390=)
c.2067A>G (p.Val689=)
c.4509A>G (p.Val1503=)
c.4500A>G (p.Val1500=)
c.4491A>G (p.Val1497=)
c.2829A>G (p.Val943=)
Xg.108687660A>TCA517924665COL4A5c.4494A>T (p.Val1498=)
c.4476A>T (p.Val1492=)
n.988A>T
c.290A>T
c.4485A>T (p.Val1495=)
c.4170A>T (p.Val1390=)
c.2067A>T (p.Val689=)
c.4509A>T (p.Val1503=)
c.4500A>T (p.Val1500=)
c.4491A>T (p.Val1497=)
c.2829A>T (p.Val943=)
Xg.108687661C>ACA413854697COL4A5c.4495C>A (p.Gln1499Lys)
c.4477C>A (p.Gln1493Lys)
n.989C>A
c.291C>A
c.4486C>A (p.Gln1496Lys)
c.4171C>A (p.Gln1391Lys)
c.2068C>A (p.Gln690Lys)
c.4510C>A (p.Gln1504Lys)
c.4501C>A (p.Gln1501Lys)
c.4492C>A (p.Gln1498Lys)
c.2830C>A (p.Gln944Lys)
Xg.108687661C>GCA413854695COL4A5c.4495C>G (p.Gln1499Glu)
c.4477C>G (p.Gln1493Glu)
n.989C>G
c.291C>G
c.4486C>G (p.Gln1496Glu)
c.4171C>G (p.Gln1391Glu)
c.2068C>G (p.Gln690Glu)
c.4510C>G (p.Gln1504Glu)
c.4501C>G (p.Gln1501Glu)
c.4492C>G (p.Gln1498Glu)
c.2830C>G (p.Gln944Glu)
Xg.108687661C>TCA413854693COL4A5c.4495C>T (p.Gln1499Ter)
c.4477C>T (p.Gln1493Ter)
n.989C>T
c.291C>T
c.4486C>T (p.Gln1496Ter)
c.4171C>T (p.Gln1391Ter)
c.2068C>T (p.Gln690Ter)
c.4510C>T (p.Gln1504Ter)
c.4501C>T (p.Gln1501Ter)
c.4492C>T (p.Gln1498Ter)
c.2830C>T (p.Gln944Ter)
Xg.108687662A=CA2450719231COL4A5c.4496A= (p.Gln1499=)
c.4478A= (p.Gln1493=)
n.990A=
c.292A=
c.4487A= (p.Gln1496=)
c.4172A= (p.Gln1391=)
c.2069A= (p.Gln690=)
c.4511A= (p.Gln1504=)
c.4502A= (p.Gln1501=)
c.4493A= (p.Gln1498=)
c.2831A= (p.Gln944=)
Xg.108687662A>CCA413854699COL4A5c.4496A>C (p.Gln1499Pro)
c.4478A>C (p.Gln1493Pro)
n.990A>C
c.292A>C
c.4487A>C (p.Gln1496Pro)
c.4172A>C (p.Gln1391Pro)
c.2069A>C (p.Gln690Pro)
c.4511A>C (p.Gln1504Pro)
c.4502A>C (p.Gln1501Pro)
c.4493A>C (p.Gln1498Pro)
c.2831A>C (p.Gln944Pro)
Xg.108687662A>GCA413854701COL4A5c.4496A>G (p.Gln1499Arg)
c.4478A>G (p.Gln1493Arg)
n.990A>G
c.292A>G
c.4487A>G (p.Gln1496Arg)
c.4172A>G (p.Gln1391Arg)
c.2069A>G (p.Gln690Arg)
c.4511A>G (p.Gln1504Arg)
c.4502A>G (p.Gln1501Arg)
c.4493A>G (p.Gln1498Arg)
c.2831A>G (p.Gln944Arg)
 gnomAD v4
Xg.108687662A>TCA10489360COL4A5c.4496A>T (p.Gln1499Leu)
c.4478A>T (p.Gln1493Leu)
n.990A>T
c.292A>T
c.4487A>T (p.Gln1496Leu)
c.4172A>T (p.Gln1391Leu)
c.2069A>T (p.Gln690Leu)
c.4511A>T (p.Gln1504Leu)
c.4502A>T (p.Gln1501Leu)
c.4493A>T (p.Gln1498Leu)
c.2831A>T (p.Gln944Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108687663A>CCA413854704COL4A5c.4497A>C (p.Gln1499His)
c.4479A>C (p.Gln1493His)
n.991A>C
c.293A>C
c.4488A>C (p.Gln1496His)
c.4173A>C (p.Gln1391His)
c.2070A>C (p.Gln690His)
c.4512A>C (p.Gln1504His)
c.4503A>C (p.Gln1501His)
c.4494A>C (p.Gln1498His)
c.2832A>C (p.Gln944His)
 gnomAD v4
Xg.108687663A>GCA517924669COL4A5c.4497A>G (p.Gln1499=)
c.4479A>G (p.Gln1493=)
n.991A>G
c.293A>G
c.4488A>G (p.Gln1496=)
c.4173A>G (p.Gln1391=)
c.2070A>G (p.Gln690=)
c.4512A>G (p.Gln1504=)
c.4503A>G (p.Gln1501=)
c.4494A>G (p.Gln1498=)
c.2832A>G (p.Gln944=)
Xg.108687663A>TCA413854705COL4A5c.4497A>T (p.Gln1499His)
c.4479A>T (p.Gln1493His)
n.991A>T
c.293A>T
c.4488A>T (p.Gln1496His)
c.4173A>T (p.Gln1391His)
c.2070A>T (p.Gln690His)
c.4512A>T (p.Gln1504His)
c.4503A>T (p.Gln1501His)
c.4494A>T (p.Gln1498His)
c.2832A>T (p.Gln944His)
Xg.108687664G>ACA413854707COL4A5c.4498G>A (p.Gly1500Arg)
c.4480G>A (p.Gly1494Arg)
n.992G>A
c.294G>A
c.4489G>A (p.Gly1497Arg)
c.4174G>A (p.Gly1392Arg)
c.2071G>A (p.Gly691Arg)
c.4513G>A (p.Gly1505Arg)
c.4504G>A (p.Gly1502Arg)
c.4495G>A (p.Gly1499Arg)
c.2833G>A (p.Gly945Arg)
Xg.108687664G>CCA413854709COL4A5c.4498G>C (p.Gly1500Arg)
c.4480G>C (p.Gly1494Arg)
n.992G>C
c.294G>C
c.4489G>C (p.Gly1497Arg)
c.4174G>C (p.Gly1392Arg)
c.2071G>C (p.Gly691Arg)
c.4513G>C (p.Gly1505Arg)
c.4504G>C (p.Gly1502Arg)
c.4495G>C (p.Gly1499Arg)
c.2833G>C (p.Gly945Arg)
Xg.108687664G>TCA413854711COL4A5c.4498G>T (p.Gly1500Ter)
c.4480G>T (p.Gly1494Ter)
n.992G>T
c.294G>T
c.4489G>T (p.Gly1497Ter)
c.4174G>T (p.Gly1392Ter)
c.2071G>T (p.Gly691Ter)
c.4513G>T (p.Gly1505Ter)
c.4504G>T (p.Gly1502Ter)
c.4495G>T (p.Gly1499Ter)
c.2833G>T (p.Gly945Ter)
Xg.108687665G>ACA334059231COL4A5c.4499G>A (p.Gly1500Glu)
c.4481G>A (p.Gly1494Glu)
n.993G>A
c.295G>A
c.4490G>A (p.Gly1497Glu)
c.4175G>A (p.Gly1392Glu)
c.2072G>A (p.Gly691Glu)
c.4514G>A (p.Gly1505Glu)
c.4505G>A (p.Gly1502Glu)
c.4496G>A (p.Gly1499Glu)
c.2834G>A (p.Gly945Glu)
 dbSNP
Xg.108687665G>CCA413854714COL4A5c.4499G>C (p.Gly1500Ala)
c.4481G>C (p.Gly1494Ala)
n.993G>C
c.295G>C
c.4490G>C (p.Gly1497Ala)
c.4175G>C (p.Gly1392Ala)
c.2072G>C (p.Gly691Ala)
c.4514G>C (p.Gly1505Ala)
c.4505G>C (p.Gly1502Ala)
c.4496G>C (p.Gly1499Ala)
c.2834G>C (p.Gly945Ala)
Xg.108687665G=CA2450719232COL4A5c.4499G= (p.Gly1500=)
c.4481G= (p.Gly1494=)
n.993G=
c.295G=
c.4490G= (p.Gly1497=)
c.4175G= (p.Gly1392=)
c.2072G= (p.Gly691=)
c.4514G= (p.Gly1505=)
c.4505G= (p.Gly1502=)
c.4496G= (p.Gly1499=)
c.2834G= (p.Gly945=)
Xg.108687665G>TCA413854716COL4A5c.4499G>T (p.Gly1500Val)
c.4481G>T (p.Gly1494Val)
n.993G>T
c.295G>T
c.4490G>T (p.Gly1497Val)
c.4175G>T (p.Gly1392Val)
c.2072G>T (p.Gly691Val)
c.4514G>T (p.Gly1505Val)
c.4505G>T (p.Gly1502Val)
c.4496G>T (p.Gly1499Val)
c.2834G>T (p.Gly945Val)
Xg.108687666A=CA2450719233COL4A5c.4500A= (p.Gly1500=)
c.4482A= (p.Gly1494=)
n.994A=
c.296A=
c.4491A= (p.Gly1497=)
c.4176A= (p.Gly1392=)
c.2073A= (p.Gly691=)
c.4515A= (p.Gly1505=)
c.4506A= (p.Gly1502=)
c.4497A= (p.Gly1499=)
c.2835A= (p.Gly945=)
Xg.108687666A>CCA517924674COL4A5c.4500A>C (p.Gly1500=)
c.4482A>C (p.Gly1494=)
n.994A>C
c.296A>C
c.4491A>C (p.Gly1497=)
c.4176A>C (p.Gly1392=)
c.2073A>C (p.Gly691=)
c.4515A>C (p.Gly1505=)
c.4506A>C (p.Gly1502=)
c.4497A>C (p.Gly1499=)
c.2835A>C (p.Gly945=)
Xg.108687666A>GCA10489361COL4A5c.4500A>G (p.Gly1500=)
c.4482A>G (p.Gly1494=)
n.994A>G
c.296A>G
c.4491A>G (p.Gly1497=)
c.4176A>G (p.Gly1392=)
c.2073A>G (p.Gly691=)
c.4515A>G (p.Gly1505=)
c.4506A>G (p.Gly1502=)
c.4497A>G (p.Gly1499=)
c.2835A>G (p.Gly945=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687666A>TCA517924673COL4A5c.4500A>T (p.Gly1500=)
c.4482A>T (p.Gly1494=)
n.994A>T
c.296A>T
c.4491A>T (p.Gly1497=)
c.4176A>T (p.Gly1392=)
c.2073A>T (p.Gly691=)
c.4515A>T (p.Gly1505=)
c.4506A>T (p.Gly1502=)
c.4497A>T (p.Gly1499=)
c.2835A>T (p.Gly945=)
Xg.108687667A>CCA413854722COL4A5c.4501A>C (p.Asn1501His)
c.4483A>C (p.Asn1495His)
n.995A>C
c.297A>C
c.4492A>C (p.Asn1498His)
c.4177A>C (p.Asn1393His)
c.2074A>C (p.Asn692His)
c.4516A>C (p.Asn1506His)
c.4507A>C (p.Asn1503His)
c.4498A>C (p.Asn1500His)
c.2836A>C (p.Asn946His)
Xg.108687667A>GCA413854720COL4A5c.4501A>G (p.Asn1501Asp)
c.4483A>G (p.Asn1495Asp)
n.995A>G
c.297A>G
c.4492A>G (p.Asn1498Asp)
c.4177A>G (p.Asn1393Asp)
c.2074A>G (p.Asn692Asp)
c.4516A>G (p.Asn1506Asp)
c.4507A>G (p.Asn1503Asp)
c.4498A>G (p.Asn1500Asp)
c.2836A>G (p.Asn946Asp)
Xg.108687667A>TCA413854718COL4A5c.4501A>T (p.Asn1501Tyr)
c.4483A>T (p.Asn1495Tyr)
n.995A>T
c.297A>T
c.4492A>T (p.Asn1498Tyr)
c.4177A>T (p.Asn1393Tyr)
c.2074A>T (p.Asn692Tyr)
c.4516A>T (p.Asn1506Tyr)
c.4507A>T (p.Asn1503Tyr)
c.4498A>T (p.Asn1500Tyr)
c.2836A>T (p.Asn946Tyr)
Xg.108687668A>CCA413854723COL4A5c.4502A>C (p.Asn1501Thr)
c.4484A>C (p.Asn1495Thr)
n.996A>C
c.298A>C
c.4493A>C (p.Asn1498Thr)
c.4178A>C (p.Asn1393Thr)
c.2075A>C (p.Asn692Thr)
c.4517A>C (p.Asn1506Thr)
c.4508A>C (p.Asn1503Thr)
c.4499A>C (p.Asn1500Thr)
c.2837A>C (p.Asn946Thr)
Xg.108687668A>GCA413854728COL4A5c.4502A>G (p.Asn1501Ser)
c.4484A>G (p.Asn1495Ser)
n.996A>G
c.298A>G
c.4493A>G (p.Asn1498Ser)
c.4178A>G (p.Asn1393Ser)
c.2075A>G (p.Asn692Ser)
c.4517A>G (p.Asn1506Ser)
c.4508A>G (p.Asn1503Ser)
c.4499A>G (p.Asn1500Ser)
c.2837A>G (p.Asn946Ser)
Xg.108687668A>TCA413854726COL4A5c.4502A>T (p.Asn1501Ile)
c.4484A>T (p.Asn1495Ile)
n.996A>T
c.298A>T
c.4493A>T (p.Asn1498Ile)
c.4178A>T (p.Asn1393Ile)
c.2075A>T (p.Asn692Ile)
c.4517A>T (p.Asn1506Ile)
c.4508A>T (p.Asn1503Ile)
c.4499A>T (p.Asn1500Ile)
c.2837A>T (p.Asn946Ile)
Xg.108687669T>ACA413854731COL4A5c.4503T>A (p.Asn1501Lys)
c.4485T>A (p.Asn1495Lys)
n.997T>A
c.299T>A
c.4494T>A (p.Asn1498Lys)
c.4179T>A (p.Asn1393Lys)
c.2076T>A (p.Asn692Lys)
c.4518T>A (p.Asn1506Lys)
c.4509T>A (p.Asn1503Lys)
c.4500T>A (p.Asn1500Lys)
c.2838T>A (p.Asn946Lys)
Xg.108687669T>CCA517924678COL4A5c.4503T>C (p.Asn1501=)
c.4485T>C (p.Asn1495=)
n.997T>C
c.299T>C
c.4494T>C (p.Asn1498=)
c.4179T>C (p.Asn1393=)
c.2076T>C (p.Asn692=)
c.4518T>C (p.Asn1506=)
c.4509T>C (p.Asn1503=)
c.4500T>C (p.Asn1500=)
c.2838T>C (p.Asn946=)
 COSMIC COSMIC
Xg.108687669T>GCA413854733COL4A5c.4503T>G (p.Asn1501Lys)
c.4485T>G (p.Asn1495Lys)
n.997T>G
c.299T>G
c.4494T>G (p.Asn1498Lys)
c.4179T>G (p.Asn1393Lys)
c.2076T>G (p.Asn692Lys)
c.4518T>G (p.Asn1506Lys)
c.4509T>G (p.Asn1503Lys)
c.4500T>G (p.Asn1500Lys)
c.2838T>G (p.Asn946Lys)
Xg.108687669_108687671delinsTAACA2450719236COL4A5c.4503_4505delinsTAA (p.Asn1501=)
c.4485_4487delinsTAA (p.Asn1495=)
n.997_999delinsTAA
c.299_301delinsTAA
c.4494_4496delinsTAA (p.Asn1498=)
c.4179_4181delinsTAA (p.Asn1393=)
c.2076_2078delinsTAA (p.Asn692=)
c.4518_4520delinsTAA (p.Asn1506=)
c.4509_4511delinsTAA (p.Asn1503=)
c.4500_4502delinsTAA (p.Asn1500=)
c.2838_2840delinsTAA (p.Asn946=)
Xg.108687670A>CCA413854736COL4A5c.4504A>C (p.Lys1502Gln)
c.4486A>C (p.Lys1496Gln)
n.998A>C
c.300A>C
c.4495A>C (p.Lys1499Gln)
c.4180A>C (p.Lys1394Gln)
c.2077A>C (p.Lys693Gln)
c.4519A>C (p.Lys1507Gln)
c.4510A>C (p.Lys1504Gln)
c.4501A>C (p.Lys1501Gln)
c.2839A>C (p.Lys947Gln)
Xg.108687670A>GCA413854737COL4A5c.4504A>G (p.Lys1502Glu)
c.4486A>G (p.Lys1496Glu)
n.998A>G
c.300A>G
c.4495A>G (p.Lys1499Glu)
c.4180A>G (p.Lys1394Glu)
c.2077A>G (p.Lys693Glu)
c.4519A>G (p.Lys1507Glu)
c.4510A>G (p.Lys1504Glu)
c.4501A>G (p.Lys1501Glu)
c.2839A>G (p.Lys947Glu)
 COSMIC COSMIC
Xg.108687670A>TCA413854739COL4A5c.4504A>T (p.Lys1502Ter)
c.4486A>T (p.Lys1496Ter)
n.998A>T
c.300A>T
c.4495A>T (p.Lys1499Ter)
c.4180A>T (p.Lys1394Ter)
c.2077A>T (p.Lys693Ter)
c.4519A>T (p.Lys1507Ter)
c.4510A>T (p.Lys1504Ter)
c.4501A>T (p.Lys1501Ter)
c.2839A>T (p.Lys947Ter)
 ClinVar
Xg.108687673delCA2580100177COL4A5c.4507del (p.Arg1503GlufsTer?)
c.4489del (p.Arg1497GlufsTer?)
n.1001del
c.303del
c.4498del (p.Arg1500GlufsTer?)
c.4183del (p.Arg1395GlufsTer?)
c.2080del (p.Arg694GlufsTer?)
c.4522del (p.Arg1508GlufsTer?)
c.4513del (p.Arg1505GlufsTer?)
c.4504del (p.Arg1502GlufsTer?)
c.2842del (p.Arg948GlufsTer?)
 ClinVar
Xg.108687672_108687673delCA915951312COL4A5c.4506_4507del (p.Arg1503SerfsTer17)
c.4488_4489del (p.Arg1497SerfsTer17)
n.1000_1001del
c.302_303del
c.4497_4498del (p.Arg1500SerfsTer17)
c.4182_4183del (p.Arg1395SerfsTer17)
c.2079_2080del (p.Arg694SerfsTer17)
c.4521_4522del (p.Arg1508SerfsTer17)
c.4512_4513del (p.Arg1505SerfsTer17)
c.4503_4504del (p.Arg1502SerfsTer17)
c.2841_2842del (p.Arg948SerfsTer17)
 ClinVar dbSNP
Xg.108687671A=CA2450719239COL4A5c.4505A= (p.Lys1502=)
c.4487A= (p.Lys1496=)
n.999A=
c.301A=
c.4496A= (p.Lys1499=)
c.4181A= (p.Lys1394=)
c.2078A= (p.Lys693=)
c.4520A= (p.Lys1507=)
c.4511A= (p.Lys1504=)
c.4502A= (p.Lys1501=)
c.2840A= (p.Lys947=)
Xg.108687671A>CCA413854741COL4A5c.4505A>C (p.Lys1502Thr)
c.4487A>C (p.Lys1496Thr)
n.999A>C
c.301A>C
c.4496A>C (p.Lys1499Thr)
c.4181A>C (p.Lys1394Thr)
c.2078A>C (p.Lys693Thr)
c.4520A>C (p.Lys1507Thr)
c.4511A>C (p.Lys1504Thr)
c.4502A>C (p.Lys1501Thr)
c.2840A>C (p.Lys947Thr)
Xg.108687671A>GCA413854742COL4A5c.4505A>G (p.Lys1502Arg)
c.4487A>G (p.Lys1496Arg)
n.999A>G
c.301A>G
c.4496A>G (p.Lys1499Arg)
c.4181A>G (p.Lys1394Arg)
c.2078A>G (p.Lys693Arg)
c.4520A>G (p.Lys1507Arg)
c.4511A>G (p.Lys1504Arg)
c.4502A>G (p.Lys1501Arg)
c.2840A>G (p.Lys947Arg)
 dbSNP gnomAD v4
Xg.108687671A>TCA413854744COL4A5c.4505A>T (p.Lys1502Ile)
c.4487A>T (p.Lys1496Ile)
n.999A>T
c.301A>T
c.4496A>T (p.Lys1499Ile)
c.4181A>T (p.Lys1394Ile)
c.2078A>T (p.Lys693Ile)
c.4520A>T (p.Lys1507Ile)
c.4511A>T (p.Lys1504Ile)
c.4502A>T (p.Lys1501Ile)
c.2840A>T (p.Lys947Ile)
Xg.108687672A>CCA413854746COL4A5c.4506A>C (p.Lys1502Asn)
c.4488A>C (p.Lys1496Asn)
n.1000A>C
c.302A>C
c.4497A>C (p.Lys1499Asn)
c.4182A>C (p.Lys1394Asn)
c.2079A>C (p.Lys693Asn)
c.4521A>C (p.Lys1507Asn)
c.4512A>C (p.Lys1504Asn)
c.4503A>C (p.Lys1501Asn)
c.2841A>C (p.Lys947Asn)
Xg.108687672A>GCA517924682COL4A5c.4506A>G (p.Lys1502=)
c.4488A>G (p.Lys1496=)
n.1000A>G
c.302A>G
c.4497A>G (p.Lys1499=)
c.4182A>G (p.Lys1394=)
c.2079A>G (p.Lys693=)
c.4521A>G (p.Lys1507=)
c.4512A>G (p.Lys1504=)
c.4503A>G (p.Lys1501=)
c.2841A>G (p.Lys947=)
Xg.108687672A>TCA413854748COL4A5c.4506A>T (p.Lys1502Asn)
c.4488A>T (p.Lys1496Asn)
n.1000A>T
c.302A>T
c.4497A>T (p.Lys1499Asn)
c.4182A>T (p.Lys1394Asn)
c.2079A>T (p.Lys693Asn)
c.4521A>T (p.Lys1507Asn)
c.4512A>T (p.Lys1504Asn)
c.4503A>T (p.Lys1501Asn)
c.2841A>T (p.Lys947Asn)
Xg.108687672_108687674delinsAAGCA2450719240COL4A5c.4506_4508delinsAAG (p.Lys1502=)
c.4488_4490delinsAAG (p.Lys1496=)
n.1000_1002delinsAAG
c.302_304delinsAAG
c.4497_4499delinsAAG (p.Lys1499=)
c.4182_4184delinsAAG (p.Lys1394=)
c.2079_2081delinsAAG (p.Lys693=)
c.4521_4523delinsAAG (p.Lys1507=)
c.4512_4514delinsAAG (p.Lys1504=)
c.4503_4505delinsAAG (p.Lys1501=)
c.2841_2843delinsAAG (p.Lys947=)
Xg.108687676_108687689delCA2695235239COL4A5c.4510_4523del (p.Ala1504LeufsTer12)
c.4492_4505del (p.Ala1498LeufsTer12)
n.1004_1017del
c.306_319del
c.4501_4514del (p.Ala1501LeufsTer12)
c.4186_4199del (p.Ala1396LeufsTer12)
c.2083_2096del (p.Ala695LeufsTer12)
c.4525_4538del (p.Ala1509LeufsTer12)
c.4516_4529del (p.Ala1506LeufsTer12)
c.4507_4520del (p.Ala1503LeufsTer12)
c.2845_2858del (p.Ala949LeufsTer12)
Xg.108687673A>CCA517924683COL4A5c.4507A>C (p.Arg1503=)
c.4489A>C (p.Arg1497=)
n.1001A>C
c.303A>C
c.4498A>C (p.Arg1500=)
c.4183A>C (p.Arg1395=)
c.2080A>C (p.Arg694=)
c.4522A>C (p.Arg1508=)
c.4513A>C (p.Arg1505=)
c.4504A>C (p.Arg1502=)
c.2842A>C (p.Arg948=)
Xg.108687673A>GCA413854750COL4A5c.4507A>G (p.Arg1503Gly)
c.4489A>G (p.Arg1497Gly)
n.1001A>G
c.303A>G
c.4498A>G (p.Arg1500Gly)
c.4183A>G (p.Arg1395Gly)
c.2080A>G (p.Arg694Gly)
c.4522A>G (p.Arg1508Gly)
c.4513A>G (p.Arg1505Gly)
c.4504A>G (p.Arg1502Gly)
c.2842A>G (p.Arg948Gly)
Xg.108687673A>TCA413854752COL4A5c.4507A>T (p.Arg1503Ter)
c.4489A>T (p.Arg1497Ter)
n.1001A>T
c.303A>T
c.4498A>T (p.Arg1500Ter)
c.4183A>T (p.Arg1395Ter)
c.2080A>T (p.Arg694Ter)
c.4522A>T (p.Arg1508Ter)
c.4513A>T (p.Arg1505Ter)
c.4504A>T (p.Arg1502Ter)
c.2842A>T (p.Arg948Ter)
Xg.108687675_108687676delCA259052COL4A5c.4509_4510del (p.Arg1503SerfsTer17)
c.4491_4492del (p.Arg1497SerfsTer17)
n.1003_1004del
c.305_306del
c.4500_4501del (p.Arg1500SerfsTer17)
c.4185_4186del (p.Arg1395SerfsTer17)
c.2082_2083del (p.Arg694SerfsTer17)
c.4524_4525del (p.Arg1508SerfsTer17)
c.4515_4516del (p.Arg1505SerfsTer17)
c.4506_4507del (p.Arg1502SerfsTer17)
c.2844_2845del (p.Arg948SerfsTer17)
 dbSNP
Xg.108687674delCA2739290547COL4A5c.4508del (p.Arg1503LysfsTer?)
c.4490del (p.Arg1497LysfsTer?)
n.1002del
c.304del
c.4499del (p.Arg1500LysfsTer?)
c.4184del (p.Arg1395LysfsTer?)
c.2081del (p.Arg694LysfsTer?)
c.4523del (p.Arg1508LysfsTer?)
c.4514del (p.Arg1505LysfsTer?)
c.4505del (p.Arg1502LysfsTer?)
c.2843del (p.Arg948LysfsTer?)
Xg.108687674G>ACA413854754COL4A5c.4508G>A (p.Arg1503Lys)
c.4490G>A (p.Arg1497Lys)
n.1002G>A
c.304G>A
c.4499G>A (p.Arg1500Lys)
c.4184G>A (p.Arg1395Lys)
c.2081G>A (p.Arg694Lys)
c.4523G>A (p.Arg1508Lys)
c.4514G>A (p.Arg1505Lys)
c.4505G>A (p.Arg1502Lys)
c.2843G>A (p.Arg948Lys)
Xg.108687674G>CCA413854756COL4A5c.4508G>C (p.Arg1503Thr)
c.4490G>C (p.Arg1497Thr)
n.1002G>C
c.304G>C
c.4499G>C (p.Arg1500Thr)
c.4184G>C (p.Arg1395Thr)
c.2081G>C (p.Arg694Thr)
c.4523G>C (p.Arg1508Thr)
c.4514G>C (p.Arg1505Thr)
c.4505G>C (p.Arg1502Thr)
c.2843G>C (p.Arg948Thr)
 ClinVar dbSNP
Xg.108687674G>TCA413854758COL4A5c.4508G>T (p.Arg1503Ile)
c.4490G>T (p.Arg1497Ile)
n.1002G>T
c.304G>T
c.4499G>T (p.Arg1500Ile)
c.4184G>T (p.Arg1395Ile)
c.2081G>T (p.Arg694Ile)
c.4523G>T (p.Arg1508Ile)
c.4514G>T (p.Arg1505Ile)
c.4505G>T (p.Arg1502Ile)
c.2843G>T (p.Arg948Ile)
Xg.108687675A>CCA413854760COL4A5c.4509A>C (p.Arg1503Ser)
c.4491A>C (p.Arg1497Ser)
n.1003A>C
c.305A>C
c.4500A>C (p.Arg1500Ser)
c.4185A>C (p.Arg1395Ser)
c.2082A>C (p.Arg694Ser)
c.4524A>C (p.Arg1508Ser)
c.4515A>C (p.Arg1505Ser)
c.4506A>C (p.Arg1502Ser)
c.2844A>C (p.Arg948Ser)
Xg.108687675A>GCA517924687COL4A5c.4509A>G (p.Arg1503=)
c.4491A>G (p.Arg1497=)
n.1003A>G
c.305A>G
c.4500A>G (p.Arg1500=)
c.4185A>G (p.Arg1395=)
c.2082A>G (p.Arg694=)
c.4524A>G (p.Arg1508=)
c.4515A>G (p.Arg1505=)
c.4506A>G (p.Arg1502=)
c.2844A>G (p.Arg948=)
Xg.108687675A>TCA413854762COL4A5c.4509A>T (p.Arg1503Ser)
c.4491A>T (p.Arg1497Ser)
n.1003A>T
c.305A>T
c.4500A>T (p.Arg1500Ser)
c.4185A>T (p.Arg1395Ser)
c.2082A>T (p.Arg694Ser)
c.4524A>T (p.Arg1508Ser)
c.4515A>T (p.Arg1505Ser)
c.4506A>T (p.Arg1502Ser)
c.2844A>T (p.Arg948Ser)
Xg.108687676delCA2695235240COL4A5c.4510del (p.Ala1504ProfsTer?)
c.4492del (p.Ala1498ProfsTer?)
n.1004del
c.306del
c.4501del (p.Ala1501ProfsTer?)
c.4186del (p.Ala1396ProfsTer?)
c.2083del (p.Ala695ProfsTer?)
c.4525del (p.Ala1509ProfsTer?)
c.4516del (p.Ala1506ProfsTer?)
c.4507del (p.Ala1503ProfsTer?)
c.2845del (p.Ala949ProfsTer?)
Xg.108687676G>ACA413854764COL4A5c.4510G>A (p.Ala1504Thr)
c.4492G>A (p.Ala1498Thr)
n.1004G>A
c.306G>A
c.4501G>A (p.Ala1501Thr)
c.4186G>A (p.Ala1396Thr)
c.2083G>A (p.Ala695Thr)
c.4525G>A (p.Ala1509Thr)
c.4516G>A (p.Ala1506Thr)
c.4507G>A (p.Ala1503Thr)
c.2845G>A (p.Ala949Thr)
Xg.108687676G>CCA413854766COL4A5c.4510G>C (p.Ala1504Pro)
c.4492G>C (p.Ala1498Pro)
n.1004G>C
c.306G>C
c.4501G>C (p.Ala1501Pro)
c.4186G>C (p.Ala1396Pro)
c.2083G>C (p.Ala695Pro)
c.4525G>C (p.Ala1509Pro)
c.4516G>C (p.Ala1506Pro)
c.4507G>C (p.Ala1503Pro)
c.2845G>C (p.Ala949Pro)
Xg.108687676G>TCA413854768COL4A5c.4510G>T (p.Ala1504Ser)
c.4492G>T (p.Ala1498Ser)
n.1004G>T
c.306G>T
c.4501G>T (p.Ala1501Ser)
c.4186G>T (p.Ala1396Ser)
c.2083G>T (p.Ala695Ser)
c.4525G>T (p.Ala1509Ser)
c.4516G>T (p.Ala1506Ser)
c.4507G>T (p.Ala1503Ser)
c.2845G>T (p.Ala949Ser)
Xg.108687677C>ACA259055COL4A5c.4511C>A (p.Ala1504Asp)
c.4493C>A (p.Ala1498Asp)
n.1005C>A
c.307C>A
c.4502C>A (p.Ala1501Asp)
c.4187C>A (p.Ala1396Asp)
c.2084C>A (p.Ala695Asp)
c.4526C>A (p.Ala1509Asp)
c.4517C>A (p.Ala1506Asp)
c.4508C>A (p.Ala1503Asp)
c.2846C>A (p.Ala949Asp)
 dbSNP
Xg.108687677C=CA2450719243COL4A5c.4511C= (p.Ala1504=)
c.4493C= (p.Ala1498=)
n.1005C=
c.307C=
c.4502C= (p.Ala1501=)
c.4187C= (p.Ala1396=)
c.2084C= (p.Ala695=)
c.4526C= (p.Ala1509=)
c.4517C= (p.Ala1506=)
c.4508C= (p.Ala1503=)
c.2846C= (p.Ala949=)
Xg.108687677C>GCA413854772COL4A5c.4511C>G (p.Ala1504Gly)
c.4493C>G (p.Ala1498Gly)
n.1005C>G
c.307C>G
c.4502C>G (p.Ala1501Gly)
c.4187C>G (p.Ala1396Gly)
c.2084C>G (p.Ala695Gly)
c.4526C>G (p.Ala1509Gly)
c.4517C>G (p.Ala1506Gly)
c.4508C>G (p.Ala1503Gly)
c.2846C>G (p.Ala949Gly)
Xg.108687677C>TCA413854774COL4A5c.4511C>T (p.Ala1504Val)
c.4493C>T (p.Ala1498Val)
n.1005C>T
c.307C>T
c.4502C>T (p.Ala1501Val)
c.4187C>T (p.Ala1396Val)
c.2084C>T (p.Ala695Val)
c.4526C>T (p.Ala1509Val)
c.4517C>T (p.Ala1506Val)
c.4508C>T (p.Ala1503Val)
c.2846C>T (p.Ala949Val)
Xg.108687678C>ACA517924688COL4A5c.4512C>A (p.Ala1504=)
c.4494C>A (p.Ala1498=)
n.1006C>A
c.308C>A
c.4503C>A (p.Ala1501=)
c.4188C>A (p.Ala1396=)
c.2085C>A (p.Ala695=)
c.4527C>A (p.Ala1509=)
c.4518C>A (p.Ala1506=)
c.4509C>A (p.Ala1503=)
c.2847C>A (p.Ala949=)
Xg.108687678C=CA2450719246COL4A5c.4512C= (p.Ala1504=)
c.4494C= (p.Ala1498=)
n.1006C=
c.308C=
c.4503C= (p.Ala1501=)
c.4188C= (p.Ala1396=)
c.2085C= (p.Ala695=)
c.4527C= (p.Ala1509=)
c.4518C= (p.Ala1506=)
c.4509C= (p.Ala1503=)
c.2847C= (p.Ala949=)
Xg.108687678C>GCA517924689COL4A5c.4512C>G (p.Ala1504=)
c.4494C>G (p.Ala1498=)
n.1006C>G
c.308C>G
c.4503C>G (p.Ala1501=)
c.4188C>G (p.Ala1396=)
c.2085C>G (p.Ala695=)
c.4527C>G (p.Ala1509=)
c.4518C>G (p.Ala1506=)
c.4509C>G (p.Ala1503=)
c.2847C>G (p.Ala949=)
Xg.108687678C>TCA517924690COL4A5c.4512C>T (p.Ala1504=)
c.4494C>T (p.Ala1498=)
n.1006C>T
c.308C>T
c.4503C>T (p.Ala1501=)
c.4188C>T (p.Ala1396=)
c.2085C>T (p.Ala695=)
c.4527C>T (p.Ala1509=)
c.4518C>T (p.Ala1506=)
c.4509C>T (p.Ala1503=)
c.2847C>T (p.Ala949=)
 ClinVar dbSNP gnomAD v4
Xg.108687679C>ACA413854776COL4A5c.4513C>A (p.His1505Asn)
c.4495C>A (p.His1499Asn)
n.1007C>A
c.309C>A
c.4504C>A (p.His1502Asn)
c.4189C>A (p.His1397Asn)
c.2086C>A (p.His696Asn)
c.4528C>A (p.His1510Asn)
c.4519C>A (p.His1507Asn)
c.4510C>A (p.His1504Asn)
c.2848C>A (p.His950Asn)
Xg.108687679C>GCA413854778COL4A5c.4513C>G (p.His1505Asp)
c.4495C>G (p.His1499Asp)
n.1007C>G
c.309C>G
c.4504C>G (p.His1502Asp)
c.4189C>G (p.His1397Asp)
c.2086C>G (p.His696Asp)
c.4528C>G (p.His1510Asp)
c.4519C>G (p.His1507Asp)
c.4510C>G (p.His1504Asp)
c.2848C>G (p.His950Asp)
Xg.108687679C>TCA413854781COL4A5c.4513C>T (p.His1505Tyr)
c.4495C>T (p.His1499Tyr)
n.1007C>T
c.309C>T
c.4504C>T (p.His1502Tyr)
c.4189C>T (p.His1397Tyr)
c.2086C>T (p.His696Tyr)
c.4528C>T (p.His1510Tyr)
c.4519C>T (p.His1507Tyr)
c.4510C>T (p.His1504Tyr)
c.2848C>T (p.His950Tyr)
Xg.108687680A>CCA413854788COL4A5c.4514A>C (p.His1505Pro)
c.4496A>C (p.His1499Pro)
n.1008A>C
c.310A>C
c.4505A>C (p.His1502Pro)
c.4190A>C (p.His1397Pro)
c.2087A>C (p.His696Pro)
c.4529A>C (p.His1510Pro)
c.4520A>C (p.His1507Pro)
c.4511A>C (p.His1504Pro)
c.2849A>C (p.His950Pro)
Xg.108687680A>GCA413854786COL4A5c.4514A>G (p.His1505Arg)
c.4496A>G (p.His1499Arg)
n.1008A>G
c.310A>G
c.4505A>G (p.His1502Arg)
c.4190A>G (p.His1397Arg)
c.2087A>G (p.His696Arg)
c.4529A>G (p.His1510Arg)
c.4520A>G (p.His1507Arg)
c.4511A>G (p.His1504Arg)
c.2849A>G (p.His950Arg)
Xg.108687680A>TCA413854783COL4A5c.4514A>T (p.His1505Leu)
c.4496A>T (p.His1499Leu)
n.1008A>T
c.310A>T
c.4505A>T (p.His1502Leu)
c.4190A>T (p.His1397Leu)
c.2087A>T (p.His696Leu)
c.4529A>T (p.His1510Leu)
c.4520A>T (p.His1507Leu)
c.4511A>T (p.His1504Leu)
c.2849A>T (p.His950Leu)
Xg.108687681C>ACA413854790COL4A5c.4515C>A (p.His1505Gln)
c.4497C>A (p.His1499Gln)
n.1009C>A
c.311C>A
c.4506C>A (p.His1502Gln)
c.4191C>A (p.His1397Gln)
c.2088C>A (p.His696Gln)
c.4530C>A (p.His1510Gln)
c.4521C>A (p.His1507Gln)
c.4512C>A (p.His1504Gln)
c.2850C>A (p.His950Gln)
Xg.108687681C=CA2450719247COL4A5c.4515C= (p.His1505=)
c.4497C= (p.His1499=)
n.1009C=
c.311C=
c.4506C= (p.His1502=)
c.4191C= (p.His1397=)
c.2088C= (p.His696=)
c.4530C= (p.His1510=)
c.4521C= (p.His1507=)
c.4512C= (p.His1504=)
c.2850C= (p.His950=)
Xg.108687681C>GCA413854792COL4A5c.4515C>G (p.His1505Gln)
c.4497C>G (p.His1499Gln)
n.1009C>G
c.311C>G
c.4506C>G (p.His1502Gln)
c.4191C>G (p.His1397Gln)
c.2088C>G (p.His696Gln)
c.4530C>G (p.His1510Gln)
c.4521C>G (p.His1507Gln)
c.4512C>G (p.His1504Gln)
c.2850C>G (p.His950Gln)
Xg.108687681C>TCA10489362COL4A5c.4515C>T (p.His1505=)
c.4497C>T (p.His1499=)
n.1009C>T
c.311C>T
c.4506C>T (p.His1502=)
c.4191C>T (p.His1397=)
c.2088C>T (p.His696=)
c.4530C>T (p.His1510=)
c.4521C>T (p.His1507=)
c.4512C>T (p.His1504=)
c.2850C>T (p.His950=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687682G>ACA10489363COL4A5c.4516G>A (p.Gly1506Ser)
c.4498G>A (p.Gly1500Ser)
n.1010G>A
c.312G>A
c.4507G>A (p.Gly1503Ser)
c.4192G>A (p.Gly1398Ser)
c.2089G>A (p.Gly697Ser)
c.4531G>A (p.Gly1511Ser)
c.4522G>A (p.Gly1508Ser)
c.4513G>A (p.Gly1505Ser)
c.2851G>A (p.Gly951Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687682G>CCA413854796COL4A5c.4516G>C (p.Gly1506Arg)
c.4498G>C (p.Gly1500Arg)
n.1010G>C
c.312G>C
c.4507G>C (p.Gly1503Arg)
c.4192G>C (p.Gly1398Arg)
c.2089G>C (p.Gly697Arg)
c.4531G>C (p.Gly1511Arg)
c.4522G>C (p.Gly1508Arg)
c.4513G>C (p.Gly1505Arg)
c.2851G>C (p.Gly951Arg)
Xg.108687682G=CA2450719250COL4A5c.4516G= (p.Gly1506=)
c.4498G= (p.Gly1500=)
n.1010G=
c.312G=
c.4507G= (p.Gly1503=)
c.4192G= (p.Gly1398=)
c.2089G= (p.Gly697=)
c.4531G= (p.Gly1511=)
c.4522G= (p.Gly1508=)
c.4513G= (p.Gly1505=)
c.2851G= (p.Gly951=)
Xg.108687682G>TCA10489364COL4A5c.4516G>T (p.Gly1506Cys)
c.4498G>T (p.Gly1500Cys)
n.1010G>T
c.312G>T
c.4507G>T (p.Gly1503Cys)
c.4192G>T (p.Gly1398Cys)
c.2089G>T (p.Gly697Cys)
c.4531G>T (p.Gly1511Cys)
c.4522G>T (p.Gly1508Cys)
c.4513G>T (p.Gly1505Cys)
c.2851G>T (p.Gly951Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687683G>ACA413854799COL4A5c.4517G>A (p.Gly1506Asp)
c.4499G>A (p.Gly1500Asp)
n.1011G>A
c.313G>A
c.4508G>A (p.Gly1503Asp)
c.4193G>A (p.Gly1398Asp)
c.2090G>A (p.Gly697Asp)
c.4532G>A (p.Gly1511Asp)
c.4523G>A (p.Gly1508Asp)
c.4514G>A (p.Gly1505Asp)
c.2852G>A (p.Gly951Asp)
Xg.108687683G>CCA413854801COL4A5c.4517G>C (p.Gly1506Ala)
c.4499G>C (p.Gly1500Ala)
n.1011G>C
c.313G>C
c.4508G>C (p.Gly1503Ala)
c.4193G>C (p.Gly1398Ala)
c.2090G>C (p.Gly697Ala)
c.4532G>C (p.Gly1511Ala)
c.4523G>C (p.Gly1508Ala)
c.4514G>C (p.Gly1505Ala)
c.2852G>C (p.Gly951Ala)
Xg.108687683G=CA2450719254COL4A5c.4517G= (p.Gly1506=)
c.4499G= (p.Gly1500=)
n.1011G=
c.313G=
c.4508G= (p.Gly1503=)
c.4193G= (p.Gly1398=)
c.2090G= (p.Gly697=)
c.4532G= (p.Gly1511=)
c.4523G= (p.Gly1508=)
c.4514G= (p.Gly1505=)
c.2852G= (p.Gly951=)
Xg.108687683G>TCA10489365COL4A5c.4517G>T (p.Gly1506Val)
c.4499G>T (p.Gly1500Val)
n.1011G>T
c.313G>T
c.4508G>T (p.Gly1503Val)
c.4193G>T (p.Gly1398Val)
c.2090G>T (p.Gly697Val)
c.4532G>T (p.Gly1511Val)
c.4523G>T (p.Gly1508Val)
c.4514G>T (p.Gly1505Val)
c.2852G>T (p.Gly951Val)
 dbSNP ExAC gnomAD v2
Xg.108687684T>ACA517924695COL4A5c.4518T>A (p.Gly1506=)
c.4500T>A (p.Gly1500=)
n.1012T>A
c.314T>A
c.4509T>A (p.Gly1503=)
c.4194T>A (p.Gly1398=)
c.2091T>A (p.Gly697=)
c.4533T>A (p.Gly1511=)
c.4524T>A (p.Gly1508=)
c.4515T>A (p.Gly1505=)
c.2853T>A (p.Gly951=)
Xg.108687684T>CCA517924696COL4A5c.4518T>C (p.Gly1506=)
c.4500T>C (p.Gly1500=)
n.1012T>C
c.314T>C
c.4509T>C (p.Gly1503=)
c.4194T>C (p.Gly1398=)
c.2091T>C (p.Gly697=)
c.4533T>C (p.Gly1511=)
c.4524T>C (p.Gly1508=)
c.4515T>C (p.Gly1505=)
c.2853T>C (p.Gly951=)
Xg.108687684T>GCA517924697COL4A5c.4518T>G (p.Gly1506=)
c.4500T>G (p.Gly1500=)
n.1012T>G
c.314T>G
c.4509T>G (p.Gly1503=)
c.4194T>G (p.Gly1398=)
c.2091T>G (p.Gly697=)
c.4533T>G (p.Gly1511=)
c.4524T>G (p.Gly1508=)
c.4515T>G (p.Gly1505=)
c.2853T>G (p.Gly951=)
Xg.108687685C>ACA413854804COL4A5c.4519C>A (p.Gln1507Lys)
c.4501C>A (p.Gln1501Lys)
n.1013C>A
c.315C>A
c.4510C>A (p.Gln1504Lys)
c.4195C>A (p.Gln1399Lys)
c.2092C>A (p.Gln698Lys)
c.4534C>A (p.Gln1512Lys)
c.4525C>A (p.Gln1509Lys)
c.4516C>A (p.Gln1506Lys)
c.2854C>A (p.Gln952Lys)
 gnomAD v4
Xg.108687685C=CA2450719256COL4A5c.4519C= (p.Gln1507=)
c.4501C= (p.Gln1501=)
n.1013C=
c.315C=
c.4510C= (p.Gln1504=)
c.4195C= (p.Gln1399=)
c.2092C= (p.Gln698=)
c.4534C= (p.Gln1512=)
c.4525C= (p.Gln1509=)
c.4516C= (p.Gln1506=)
c.2854C= (p.Gln952=)
Xg.108687685C>GCA413854806COL4A5c.4519C>G (p.Gln1507Glu)
c.4501C>G (p.Gln1501Glu)
n.1013C>G
c.315C>G
c.4510C>G (p.Gln1504Glu)
c.4195C>G (p.Gln1399Glu)
c.2092C>G (p.Gln698Glu)
c.4534C>G (p.Gln1512Glu)
c.4525C>G (p.Gln1509Glu)
c.4516C>G (p.Gln1506Glu)
c.2854C>G (p.Gln952Glu)
 gnomAD v4
Xg.108687685C>TCA259057COL4A5c.4519C>T (p.Gln1507Ter)
c.4501C>T (p.Gln1501Ter)
n.1013C>T
c.315C>T
c.4510C>T (p.Gln1504Ter)
c.4195C>T (p.Gln1399Ter)
c.2092C>T (p.Gln698Ter)
c.4534C>T (p.Gln1512Ter)
c.4525C>T (p.Gln1509Ter)
c.4516C>T (p.Gln1506Ter)
c.2854C>T (p.Gln952Ter)
 dbSNP
Xg.108687686A>CCA413854811COL4A5c.4520A>C (p.Gln1507Pro)
c.4502A>C (p.Gln1501Pro)
n.1014A>C
c.316A>C
c.4511A>C (p.Gln1504Pro)
c.4196A>C (p.Gln1399Pro)
c.2093A>C (p.Gln698Pro)
c.4535A>C (p.Gln1512Pro)
c.4526A>C (p.Gln1509Pro)
c.4517A>C (p.Gln1506Pro)
c.2855A>C (p.Gln952Pro)
Xg.108687686A>GCA413854809COL4A5c.4520A>G (p.Gln1507Arg)
c.4502A>G (p.Gln1501Arg)
n.1014A>G
c.316A>G
c.4511A>G (p.Gln1504Arg)
c.4196A>G (p.Gln1399Arg)
c.2093A>G (p.Gln698Arg)
c.4535A>G (p.Gln1512Arg)
c.4526A>G (p.Gln1509Arg)
c.4517A>G (p.Gln1506Arg)
c.2855A>G (p.Gln952Arg)
Xg.108687686A>TCA413854810COL4A5c.4520A>T (p.Gln1507Leu)
c.4502A>T (p.Gln1501Leu)
n.1014A>T
c.316A>T
c.4511A>T (p.Gln1504Leu)
c.4196A>T (p.Gln1399Leu)
c.2093A>T (p.Gln698Leu)
c.4535A>T (p.Gln1512Leu)
c.4526A>T (p.Gln1509Leu)
c.4517A>T (p.Gln1506Leu)
c.2855A>T (p.Gln952Leu)
Xg.108687687A>CCA413854812COL4A5c.4521A>C (p.Gln1507His)
c.4503A>C (p.Gln1501His)
n.1015A>C
c.317A>C
c.4512A>C (p.Gln1504His)
c.4197A>C (p.Gln1399His)
c.2094A>C (p.Gln698His)
c.4536A>C (p.Gln1512His)
c.4527A>C (p.Gln1509His)
c.4518A>C (p.Gln1506His)
c.2856A>C (p.Gln952His)
Xg.108687687A>GCA517924699COL4A5c.4521A>G (p.Gln1507=)
c.4503A>G (p.Gln1501=)
n.1015A>G
c.317A>G
c.4512A>G (p.Gln1504=)
c.4197A>G (p.Gln1399=)
c.2094A>G (p.Gln698=)
c.4536A>G (p.Gln1512=)
c.4527A>G (p.Gln1509=)
c.4518A>G (p.Gln1506=)
c.2856A>G (p.Gln952=)
Xg.108687687A>TCA413854813COL4A5c.4521A>T (p.Gln1507His)
c.4503A>T (p.Gln1501His)
n.1015A>T
c.317A>T
c.4512A>T (p.Gln1504His)
c.4197A>T (p.Gln1399His)
c.2094A>T (p.Gln698His)
c.4536A>T (p.Gln1512His)
c.4527A>T (p.Gln1509His)
c.4518A>T (p.Gln1506His)
c.2856A>T (p.Gln952His)
Xg.108687688G>ACA413854814COL4A5c.4522G>A (p.Asp1508Asn)
c.4504G>A (p.Asp1502Asn)
n.1016G>A
c.318G>A
c.4513G>A (p.Asp1505Asn)
c.4198G>A (p.Asp1400Asn)
c.2095G>A (p.Asp699Asn)
c.4537G>A (p.Asp1513Asn)
c.4528G>A (p.Asp1510Asn)
c.4519G>A (p.Asp1507Asn)
c.2857G>A (p.Asp953Asn)
 gnomAD v4
Xg.108687688G>CCA413854815COL4A5c.4522G>C (p.Asp1508His)
c.4504G>C (p.Asp1502His)
n.1016G>C
c.318G>C
c.4513G>C (p.Asp1505His)
c.4198G>C (p.Asp1400His)
c.2095G>C (p.Asp699His)
c.4537G>C (p.Asp1513His)
c.4528G>C (p.Asp1510His)
c.4519G>C (p.Asp1507His)
c.2857G>C (p.Asp953His)
Xg.108687688G>TCA413854816COL4A5c.4522G>T (p.Asp1508Tyr)
c.4504G>T (p.Asp1502Tyr)
n.1016G>T
c.318G>T
c.4513G>T (p.Asp1505Tyr)
c.4198G>T (p.Asp1400Tyr)
c.2095G>T (p.Asp699Tyr)
c.4537G>T (p.Asp1513Tyr)
c.4528G>T (p.Asp1510Tyr)
c.4519G>T (p.Asp1507Tyr)
c.2857G>T (p.Asp953Tyr)
Xg.108687689A=CA2450719259COL4A5c.4523A= (p.Asp1508=)
c.4505A= (p.Asp1502=)
n.1017A=
c.319A=
c.4514A= (p.Asp1505=)
c.4199A= (p.Asp1400=)
c.2096A= (p.Asp699=)
c.4538A= (p.Asp1513=)
c.4529A= (p.Asp1510=)
c.4520A= (p.Asp1507=)
c.2858A= (p.Asp953=)
Xg.108687689A>CCA413854817COL4A5c.4523A>C (p.Asp1508Ala)
c.4505A>C (p.Asp1502Ala)
n.1017A>C
c.319A>C
c.4514A>C (p.Asp1505Ala)
c.4199A>C (p.Asp1400Ala)
c.2096A>C (p.Asp699Ala)
c.4538A>C (p.Asp1513Ala)
c.4529A>C (p.Asp1510Ala)
c.4520A>C (p.Asp1507Ala)
c.2858A>C (p.Asp953Ala)
Xg.108687689A>GCA413854818COL4A5c.4523A>G (p.Asp1508Gly)
c.4505A>G (p.Asp1502Gly)
n.1017A>G
c.319A>G
c.4514A>G (p.Asp1505Gly)
c.4199A>G (p.Asp1400Gly)
c.2096A>G (p.Asp699Gly)
c.4538A>G (p.Asp1513Gly)
c.4529A>G (p.Asp1510Gly)
c.4520A>G (p.Asp1507Gly)
c.2858A>G (p.Asp953Gly)
Xg.108687689A>TCA413854819COL4A5c.4523A>T (p.Asp1508Val)
c.4505A>T (p.Asp1502Val)
n.1017A>T
c.319A>T
c.4514A>T (p.Asp1505Val)
c.4199A>T (p.Asp1400Val)
c.2096A>T (p.Asp699Val)
c.4538A>T (p.Asp1513Val)
c.4529A>T (p.Asp1510Val)
c.4520A>T (p.Asp1507Val)
c.2858A>T (p.Asp953Val)
 dbSNP
Xg.108687690C>ACA413854820COL4A5c.4524C>A (p.Asp1508Glu)
c.4506C>A (p.Asp1502Glu)
n.1018C>A
c.320C>A
c.4515C>A (p.Asp1505Glu)
c.4200C>A (p.Asp1400Glu)
c.2097C>A (p.Asp699Glu)
c.4539C>A (p.Asp1513Glu)
c.4530C>A (p.Asp1510Glu)
c.4521C>A (p.Asp1507Glu)
c.2859C>A (p.Asp953Glu)
Xg.108687690C>GCA413854821COL4A5c.4524C>G (p.Asp1508Glu)
c.4506C>G (p.Asp1502Glu)
n.1018C>G
c.320C>G
c.4515C>G (p.Asp1505Glu)
c.4200C>G (p.Asp1400Glu)
c.2097C>G (p.Asp699Glu)
c.4539C>G (p.Asp1513Glu)
c.4530C>G (p.Asp1510Glu)
c.4521C>G (p.Asp1507Glu)
c.2859C>G (p.Asp953Glu)
Xg.108687690C>TCA517924706COL4A5c.4524C>T (p.Asp1508=)
c.4506C>T (p.Asp1502=)
n.1018C>T
c.320C>T
c.4515C>T (p.Asp1505=)
c.4200C>T (p.Asp1400=)
c.2097C>T (p.Asp699=)
c.4539C>T (p.Asp1513=)
c.4530C>T (p.Asp1510=)
c.4521C>T (p.Asp1507=)
c.2859C>T (p.Asp953=)
 ClinVar gnomAD v4
Xg.108687691T>ACA413854822COL4A5c.4525T>A (p.Leu1509Met)
c.4507T>A (p.Leu1503Met)
n.1019T>A
c.321T>A
c.4516T>A (p.Leu1506Met)
c.4201T>A (p.Leu1401Met)
c.2098T>A (p.Leu700Met)
c.4540T>A (p.Leu1514Met)
c.4531T>A (p.Leu1511Met)
c.4522T>A (p.Leu1508Met)
c.2860T>A (p.Leu954Met)
Xg.108687691T>CCA517924707COL4A5c.4525T>C (p.Leu1509=)
c.4507T>C (p.Leu1503=)
n.1019T>C
c.321T>C
c.4516T>C (p.Leu1506=)
c.4201T>C (p.Leu1401=)
c.2098T>C (p.Leu700=)
c.4540T>C (p.Leu1514=)
c.4531T>C (p.Leu1511=)
c.4522T>C (p.Leu1508=)
c.2860T>C (p.Leu954=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108687691T>GCA413854823COL4A5c.4525T>G (p.Leu1509Val)
c.4507T>G (p.Leu1503Val)
n.1019T>G
c.321T>G
c.4516T>G (p.Leu1506Val)
c.4201T>G (p.Leu1401Val)
c.2098T>G (p.Leu700Val)
c.4540T>G (p.Leu1514Val)
c.4531T>G (p.Leu1511Val)
c.4522T>G (p.Leu1508Val)
c.2860T>G (p.Leu954Val)
Xg.108687691T=CA2450719261COL4A5c.4525T= (p.Leu1509=)
c.4507T= (p.Leu1503=)
n.1019T=
c.321T=
c.4516T= (p.Leu1506=)
c.4201T= (p.Leu1401=)
c.2098T= (p.Leu700=)
c.4540T= (p.Leu1514=)
c.4531T= (p.Leu1511=)
c.4522T= (p.Leu1508=)
c.2860T= (p.Leu954=)
Xg.108687692T>ACA413854825COL4A5c.4526T>A (p.Leu1509Ter)
c.4508T>A (p.Leu1503Ter)
n.1020T>A
c.322T>A
c.4517T>A (p.Leu1506Ter)
c.4202T>A (p.Leu1401Ter)
c.2099T>A (p.Leu700Ter)
c.4541T>A (p.Leu1514Ter)
c.4532T>A (p.Leu1511Ter)
c.4523T>A (p.Leu1508Ter)
c.2861T>A (p.Leu954Ter)
Xg.108687692T>CCA413854826COL4A5c.4526T>C (p.Leu1509Ser)
c.4508T>C (p.Leu1503Ser)
n.1020T>C
c.322T>C
c.4517T>C (p.Leu1506Ser)
c.4202T>C (p.Leu1401Ser)
c.2099T>C (p.Leu700Ser)
c.4541T>C (p.Leu1514Ser)
c.4532T>C (p.Leu1511Ser)
c.4523T>C (p.Leu1508Ser)
c.2861T>C (p.Leu954Ser)
Xg.108687692T>GCA413854824COL4A5c.4526T>G (p.Leu1509Trp)
c.4508T>G (p.Leu1503Trp)
n.1020T>G
c.322T>G
c.4517T>G (p.Leu1506Trp)
c.4202T>G (p.Leu1401Trp)
c.2099T>G (p.Leu700Trp)
c.4541T>G (p.Leu1514Trp)
c.4532T>G (p.Leu1511Trp)
c.4523T>G (p.Leu1508Trp)
c.2861T>G (p.Leu954Trp)
Xg.108687693G>ACA517924709COL4A5c.4527G>A (p.Leu1509=)
c.4509G>A (p.Leu1503=)
n.1021G>A
c.323G>A
c.4518G>A (p.Leu1506=)
c.4203G>A (p.Leu1401=)
c.2100G>A (p.Leu700=)
c.4542G>A (p.Leu1514=)
c.4533G>A (p.Leu1511=)
c.4524G>A (p.Leu1508=)
c.2862G>A (p.Leu954=)
Xg.108687693G>CCA413854828COL4A5c.4527G>C (p.Leu1509Phe)
c.4509G>C (p.Leu1503Phe)
n.1021G>C
c.323G>C
c.4518G>C (p.Leu1506Phe)
c.4203G>C (p.Leu1401Phe)
c.2100G>C (p.Leu700Phe)
c.4542G>C (p.Leu1514Phe)
c.4533G>C (p.Leu1511Phe)
c.4524G>C (p.Leu1508Phe)
c.2862G>C (p.Leu954Phe)
Xg.108687693G>TCA413854827COL4A5c.4527G>T (p.Leu1509Phe)
c.4509G>T (p.Leu1503Phe)
n.1021G>T
c.323G>T
c.4518G>T (p.Leu1506Phe)
c.4203G>T (p.Leu1401Phe)
c.2100G>T (p.Leu700Phe)
c.4542G>T (p.Leu1514Phe)
c.4533G>T (p.Leu1511Phe)
c.4524G>T (p.Leu1508Phe)
c.2862G>T (p.Leu954Phe)
Xg.108687694G>ACA413854829COL4A5c.4528G>A (p.Gly1510Arg)
c.4510G>A (p.Gly1504Arg)
n.1022G>A
c.324G>A
c.4519G>A (p.Gly1507Arg)
c.4204G>A (p.Gly1402Arg)
c.2101G>A (p.Gly701Arg)
c.4543G>A (p.Gly1515Arg)
c.4534G>A (p.Gly1512Arg)
c.4525G>A (p.Gly1509Arg)
c.2863G>A (p.Gly955Arg)
Xg.108687694G>CCA413854830COL4A5c.4528G>C (p.Gly1510Arg)
c.4510G>C (p.Gly1504Arg)
n.1022G>C
c.324G>C
c.4519G>C (p.Gly1507Arg)
c.4204G>C (p.Gly1402Arg)
c.2101G>C (p.Gly701Arg)
c.4543G>C (p.Gly1515Arg)
c.4534G>C (p.Gly1512Arg)
c.4525G>C (p.Gly1509Arg)
c.2863G>C (p.Gly955Arg)
 ClinVar dbSNP
Xg.108687694G>TCA413854831COL4A5c.4528G>T (p.Gly1510Trp)
c.4510G>T (p.Gly1504Trp)
n.1022G>T
c.324G>T
c.4519G>T (p.Gly1507Trp)
c.4204G>T (p.Gly1402Trp)
c.2101G>T (p.Gly701Trp)
c.4543G>T (p.Gly1515Trp)
c.4534G>T (p.Gly1512Trp)
c.4525G>T (p.Gly1509Trp)
c.2863G>T (p.Gly955Trp)
Xg.108687695G>ACA413854833COL4A5c.4528+1G>A (n.4528+1G>A)
c.4510+1G>A (n.4510+1G>A)
n.1022+1G>A
c.324+1G>A
c.4519+1G>A (n.4519+1G>A)
c.4204+1G>A (n.4204+1G>A)
c.2101+1G>A (n.2101+1G>A)
c.4543+1G>A (n.4543+1G>A)
c.4534+1G>A (n.4534+1G>A)
c.4525+1G>A (n.4525+1G>A)
c.2863+1G>A (n.2863+1G>A)
 ClinVar dbSNP
Xg.108687695G>CCA259061COL4A5c.4528+1G>C (n.4528+1G>C)
c.4510+1G>C (n.4510+1G>C)
n.1022+1G>C
c.324+1G>C
c.4519+1G>C (n.4519+1G>C)
c.4204+1G>C (n.4204+1G>C)
c.2101+1G>C (n.2101+1G>C)
c.4543+1G>C (n.4543+1G>C)
c.4534+1G>C (n.4534+1G>C)
c.4525+1G>C (n.4525+1G>C)
c.2863+1G>C (n.2863+1G>C)
 dbSNP
Xg.108687695G=CA2450719263COL4A5c.4528+1G= (n.4528+1G=)
c.4510+1G= (n.4510+1G=)
n.1022+1G=
c.324+1G=
c.4519+1G= (n.4519+1G=)
c.4204+1G= (n.4204+1G=)
c.2101+1G= (n.2101+1G=)
c.4543+1G= (n.4543+1G=)
c.4534+1G= (n.4534+1G=)
c.4525+1G= (n.4525+1G=)
c.2863+1G= (n.2863+1G=)
Xg.108687695G>TCA413854835COL4A5c.4528+1G>T (n.4528+1G>T)
c.4510+1G>T (n.4510+1G>T)
n.1022+1G>T
c.324+1G>T
c.4519+1G>T (n.4519+1G>T)
c.4204+1G>T (n.4204+1G>T)
c.2101+1G>T (n.2101+1G>T)
c.4543+1G>T (n.4543+1G>T)
c.4534+1G>T (n.4534+1G>T)
c.4525+1G>T (n.4525+1G>T)
c.2863+1G>T (n.2863+1G>T)
Xg.108687696T>ACA413854838COL4A5c.4528+2T>A (n.4528+2T>A)
c.4510+2T>A (n.4510+2T>A)
n.1022+2T>A
c.324+2T>A
c.4519+2T>A (n.4519+2T>A)
c.4204+2T>A (n.4204+2T>A)
c.2101+2T>A (n.2101+2T>A)
c.4543+2T>A (n.4543+2T>A)
c.4534+2T>A (n.4534+2T>A)
c.4525+2T>A (n.4525+2T>A)
c.2863+2T>A (n.2863+2T>A)
Xg.108687696T>CCA413854840COL4A5c.4528+2T>C (n.4528+2T>C)
c.4510+2T>C (n.4510+2T>C)
n.1022+2T>C
c.324+2T>C
c.4519+2T>C (n.4519+2T>C)
c.4204+2T>C (n.4204+2T>C)
c.2101+2T>C (n.2101+2T>C)
c.4543+2T>C (n.4543+2T>C)
c.4534+2T>C (n.4534+2T>C)
c.4525+2T>C (n.4525+2T>C)
c.2863+2T>C (n.2863+2T>C)
 ClinVar dbSNP
Xg.108687696T>GCA413854842COL4A5c.4528+2T>G (n.4528+2T>G)
c.4510+2T>G (n.4510+2T>G)
n.1022+2T>G
c.324+2T>G
c.4519+2T>G (n.4519+2T>G)
c.4204+2T>G (n.4204+2T>G)
c.2101+2T>G (n.2101+2T>G)
c.4543+2T>G (n.4543+2T>G)
c.4534+2T>G (n.4534+2T>G)
c.4525+2T>G (n.4525+2T>G)
c.2863+2T>G (n.2863+2T>G)
Xg.108687698A>TCA2579677163COL4A5c.4528+4A>T (n.4528+4A>T)
c.4510+4A>T (n.4510+4A>T)
n.1022+4A>T
c.324+4A>T
c.4519+4A>T (n.4519+4A>T)
c.4204+4A>T (n.4204+4A>T)
c.2101+4A>T (n.2101+4A>T)
c.4543+4A>T (n.4543+4A>T)
c.4534+4A>T (n.4534+4A>T)
c.4525+4A>T (n.4525+4A>T)
c.2863+4A>T (n.2863+4A>T)
Xg.108687699G>ACA2740097971COL4A5c.4528+5G>A (n.4528+5G>A)
c.4510+5G>A (n.4510+5G>A)
n.1022+5G>A
c.324+5G>A
c.4519+5G>A (n.4519+5G>A)
c.4204+5G>A (n.4204+5G>A)
c.2101+5G>A (n.2101+5G>A)
c.4543+5G>A (n.4543+5G>A)
c.4534+5G>A (n.4534+5G>A)
c.4525+5G>A (n.4525+5G>A)
c.2863+5G>A (n.2863+5G>A)
 ClinVar
Xg.108687702A>CCA2579677164COL4A5c.4528+8A>C (n.4528+8A>C)
c.4510+8A>C (n.4510+8A>C)
n.1022+8A>C
c.324+8A>C
c.4519+8A>C (n.4519+8A>C)
c.4204+8A>C (n.4204+8A>C)
c.2101+8A>C (n.2101+8A>C)
c.4543+8A>C (n.4543+8A>C)
c.4534+8A>C (n.4534+8A>C)
c.4525+8A>C (n.4525+8A>C)
c.2863+8A>C (n.2863+8A>C)
 gnomAD v4
Xg.108687706A>GCA2694414841COL4A5c.4528+12A>G (n.4528+12A>G)
c.4510+12A>G (n.4510+12A>G)
n.1022+12A>G
c.324+12A>G
c.4519+12A>G (n.4519+12A>G)
c.4204+12A>G (n.4204+12A>G)
c.2101+12A>G (n.2101+12A>G)
c.4543+12A>G (n.4543+12A>G)
c.4534+12A>G (n.4534+12A>G)
c.4525+12A>G (n.4525+12A>G)
c.2863+12A>G (n.2863+12A>G)
 gnomAD v4
Xg.108687707delCA2694414840COL4A5c.4528+13del (n.4528+13del)
c.4510+13del (n.4510+13del)
n.1022+13del
c.324+13del
c.4519+13del (n.4519+13del)
c.4204+13del (n.4204+13del)
c.2101+13del (n.2101+13del)
c.4543+13del (n.4543+13del)
c.4534+13del (n.4534+13del)
c.4525+13del (n.4525+13del)
c.2863+13del (n.2863+13del)
 gnomAD v4
Xg.108687707A=CA2450719264COL4A5c.4528+13A= (n.4528+13A=)
c.4510+13A= (n.4510+13A=)
n.1022+13A=
c.324+13A=
c.4519+13A= (n.4519+13A=)
c.4204+13A= (n.4204+13A=)
c.2101+13A= (n.2101+13A=)
c.4543+13A= (n.4543+13A=)
c.4534+13A= (n.4534+13A=)
c.4525+13A= (n.4525+13A=)
c.2863+13A= (n.2863+13A=)
Xg.108687707A>GCA644063537COL4A5c.4528+13A>G (n.4528+13A>G)
c.4510+13A>G (n.4510+13A>G)
n.1022+13A>G
c.324+13A>G
c.4519+13A>G (n.4519+13A>G)
c.4204+13A>G (n.4204+13A>G)
c.2101+13A>G (n.2101+13A>G)
c.4543+13A>G (n.4543+13A>G)
c.4534+13A>G (n.4534+13A>G)
c.4525+13A>G (n.4525+13A>G)
c.2863+13A>G (n.2863+13A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687708T>ACA2450719265COL4A5c.4528+14T>A (n.4528+14T>A)
c.4510+14T>A (n.4510+14T>A)
n.1022+14T>A
c.324+14T>A
c.4519+14T>A (n.4519+14T>A)
c.4204+14T>A (n.4204+14T>A)
c.2101+14T>A (n.2101+14T>A)
c.4543+14T>A (n.4543+14T>A)
c.4534+14T>A (n.4534+14T>A)
c.4525+14T>A (n.4525+14T>A)
c.2863+14T>A (n.2863+14T>A)
 dbSNP
Xg.108687708T=CA2450719266COL4A5c.4528+14T= (n.4528+14T=)
c.4510+14T= (n.4510+14T=)
n.1022+14T=
c.324+14T=
c.4519+14T= (n.4519+14T=)
c.4204+14T= (n.4204+14T=)
c.2101+14T= (n.2101+14T=)
c.4543+14T= (n.4543+14T=)
c.4534+14T= (n.4534+14T=)
c.4525+14T= (n.4525+14T=)
c.2863+14T= (n.2863+14T=)
Xg.108687709A=CA2450719267COL4A5c.4528+15A= (n.4528+15A=)
c.4510+15A= (n.4510+15A=)
n.1022+15A=
c.324+15A=
c.4519+15A= (n.4519+15A=)
c.4204+15A= (n.4204+15A=)
c.2101+15A= (n.2101+15A=)
c.4543+15A= (n.4543+15A=)
c.4534+15A= (n.4534+15A=)
c.4525+15A= (n.4525+15A=)
c.2863+15A= (n.2863+15A=)
Xg.108687709A>GCA334059283COL4A5c.4528+15A>G (n.4528+15A>G)
c.4510+15A>G (n.4510+15A>G)
n.1022+15A>G
c.324+15A>G
c.4519+15A>G (n.4519+15A>G)
c.4204+15A>G (n.4204+15A>G)
c.2101+15A>G (n.2101+15A>G)
c.4543+15A>G (n.4543+15A>G)
c.4534+15A>G (n.4534+15A>G)
c.4525+15A>G (n.4525+15A>G)
c.2863+15A>G (n.2863+15A>G)
 ClinVar dbSNP gnomAD v4
Xg.108687710T>ACA2822894517COL4A5c.4528+16T>A (n.4528+16T>A)
c.4510+16T>A (n.4510+16T>A)
n.1022+16T>A
c.324+16T>A
c.4519+16T>A (n.4519+16T>A)
c.4204+16T>A (n.4204+16T>A)
c.2101+16T>A (n.2101+16T>A)
c.4543+16T>A (n.4543+16T>A)
c.4534+16T>A (n.4534+16T>A)
c.4525+16T>A (n.4525+16T>A)
c.2863+16T>A (n.2863+16T>A)
Xg.108687710T>CCA2740092260COL4A5c.4528+16T>C (n.4528+16T>C)
c.4510+16T>C (n.4510+16T>C)
n.1022+16T>C
c.324+16T>C
c.4519+16T>C (n.4519+16T>C)
c.4204+16T>C (n.4204+16T>C)
c.2101+16T>C (n.2101+16T>C)
c.4543+16T>C (n.4543+16T>C)
c.4534+16T>C (n.4534+16T>C)
c.4525+16T>C (n.4525+16T>C)
c.2863+16T>C (n.2863+16T>C)
 ClinVar
Xg.108687711C>ACA644063538COL4A5c.4528+17C>A (n.4528+17C>A)
c.4510+17C>A (n.4510+17C>A)
n.1022+17C>A
c.324+17C>A
c.4519+17C>A (n.4519+17C>A)
c.4204+17C>A (n.4204+17C>A)
c.2101+17C>A (n.2101+17C>A)
c.4543+17C>A (n.4543+17C>A)
c.4534+17C>A (n.4534+17C>A)
c.4525+17C>A (n.4525+17C>A)
c.2863+17C>A (n.2863+17C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.108687711C=CA2450719268COL4A5c.4528+17C= (n.4528+17C=)
c.4510+17C= (n.4510+17C=)
n.1022+17C=
c.324+17C=
c.4519+17C= (n.4519+17C=)
c.4204+17C= (n.4204+17C=)
c.2101+17C= (n.2101+17C=)
c.4543+17C= (n.4543+17C=)
c.4534+17C= (n.4534+17C=)
c.4525+17C= (n.4525+17C=)
c.2863+17C= (n.2863+17C=)
Xg.108687711C>GCA869825233COL4A5c.4528+17C>G (n.4528+17C>G)
c.4510+17C>G (n.4510+17C>G)
n.1022+17C>G
c.324+17C>G
c.4519+17C>G (n.4519+17C>G)
c.4204+17C>G (n.4204+17C>G)
c.2101+17C>G (n.2101+17C>G)
c.4543+17C>G (n.4543+17C>G)
c.4534+17C>G (n.4534+17C>G)
c.4525+17C>G (n.4525+17C>G)
c.2863+17C>G (n.2863+17C>G)
 dbSNP
Xg.108687711C>TCA869825237COL4A5c.4528+17C>T (n.4528+17C>T)
c.4510+17C>T (n.4510+17C>T)
n.1022+17C>T
c.324+17C>T
c.4519+17C>T (n.4519+17C>T)
c.4204+17C>T (n.4204+17C>T)
c.2101+17C>T (n.2101+17C>T)
c.4543+17C>T (n.4543+17C>T)
c.4534+17C>T (n.4534+17C>T)
c.4525+17C>T (n.4525+17C>T)
c.2863+17C>T (n.2863+17C>T)
 dbSNP gnomAD v4
Xg.108687714A=CA2450719269COL4A5c.4528+20A= (n.4528+20A=)
c.4510+20A= (n.4510+20A=)
n.1022+20A=
c.324+20A=
c.4519+20A= (n.4519+20A=)
c.4204+20A= (n.4204+20A=)
c.2101+20A= (n.2101+20A=)
c.4543+20A= (n.4543+20A=)
c.4534+20A= (n.4534+20A=)
c.4525+20A= (n.4525+20A=)
c.2863+20A= (n.2863+20A=)
Xg.108687714A>GCA10489366COL4A5c.4528+20A>G (n.4528+20A>G)
c.4510+20A>G (n.4510+20A>G)
n.1022+20A>G
c.324+20A>G
c.4519+20A>G (n.4519+20A>G)
c.4204+20A>G (n.4204+20A>G)
c.2101+20A>G (n.2101+20A>G)
c.4543+20A>G (n.4543+20A>G)
c.4534+20A>G (n.4534+20A>G)
c.4525+20A>G (n.4525+20A>G)
c.2863+20A>G (n.2863+20A>G)
 dbSNP ExAC gnomAD v2
Xg.108687715T>CCA2525203443COL4A5c.4528+21T>C (n.4528+21T>C)
c.4510+21T>C (n.4510+21T>C)
n.1022+21T>C
c.324+21T>C
c.4519+21T>C (n.4519+21T>C)
c.4204+21T>C (n.4204+21T>C)
c.2101+21T>C (n.2101+21T>C)
c.4543+21T>C (n.4543+21T>C)
c.4534+21T>C (n.4534+21T>C)
c.4525+21T>C (n.4525+21T>C)
c.2863+21T>C (n.2863+21T>C)
Xg.108687716T>GCA2694414842COL4A5c.4528+22T>G (n.4528+22T>G)
c.4510+22T>G (n.4510+22T>G)
n.1022+22T>G
c.324+22T>G
c.4519+22T>G (n.4519+22T>G)
c.4204+22T>G (n.4204+22T>G)
c.2101+22T>G (n.2101+22T>G)
c.4543+22T>G (n.4543+22T>G)
c.4534+22T>G (n.4534+22T>G)
c.4525+22T>G (n.4525+22T>G)
c.2863+22T>G (n.2863+22T>G)
 gnomAD v4
Xg.108687719C>ACA869825241COL4A5c.4528+25C>A (n.4528+25C>A)
c.4510+25C>A (n.4510+25C>A)
n.1022+25C>A
c.324+25C>A
c.4519+25C>A (n.4519+25C>A)
c.4204+25C>A (n.4204+25C>A)
c.2101+25C>A (n.2101+25C>A)
c.4543+25C>A (n.4543+25C>A)
c.4534+25C>A (n.4534+25C>A)
c.4525+25C>A (n.4525+25C>A)
c.2863+25C>A (n.2863+25C>A)
 dbSNP
Xg.108687719C=CA2450719270COL4A5c.4528+25C= (n.4528+25C=)
c.4510+25C= (n.4510+25C=)
n.1022+25C=
c.324+25C=
c.4519+25C= (n.4519+25C=)
c.4204+25C= (n.4204+25C=)
c.2101+25C= (n.2101+25C=)
c.4543+25C= (n.4543+25C=)
c.4534+25C= (n.4534+25C=)
c.4525+25C= (n.4525+25C=)
c.2863+25C= (n.2863+25C=)
Xg.108687719C>TCA2534911641COL4A5c.4528+25C>T (n.4528+25C>T)
c.4510+25C>T (n.4510+25C>T)
n.1022+25C>T
c.324+25C>T
c.4519+25C>T (n.4519+25C>T)
c.4204+25C>T (n.4204+25C>T)
c.2101+25C>T (n.2101+25C>T)
c.4543+25C>T (n.4543+25C>T)
c.4534+25C>T (n.4534+25C>T)
c.4525+25C>T (n.4525+25C>T)
c.2863+25C>T (n.2863+25C>T)
 gnomAD v4
Xg.108687720T>CCA10489367COL4A5c.4528+26T>C (n.4528+26T>C)
c.4510+26T>C (n.4510+26T>C)
n.1022+26T>C
c.324+26T>C
c.4519+26T>C (n.4519+26T>C)
c.4204+26T>C (n.4204+26T>C)
c.2101+26T>C (n.2101+26T>C)
c.4543+26T>C (n.4543+26T>C)
c.4534+26T>C (n.4534+26T>C)
c.4525+26T>C (n.4525+26T>C)
c.2863+26T>C (n.2863+26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687720T=CA2450719271COL4A5c.4528+26T= (n.4528+26T=)
c.4510+26T= (n.4510+26T=)
n.1022+26T=
c.324+26T=
c.4519+26T= (n.4519+26T=)
c.4204+26T= (n.4204+26T=)
c.2101+26T= (n.2101+26T=)
c.4543+26T= (n.4543+26T=)
c.4534+26T= (n.4534+26T=)
c.4525+26T= (n.4525+26T=)
c.2863+26T= (n.2863+26T=)
Xg.108687722C>ACA2694414843COL4A5c.4528+28C>A (n.4528+28C>A)
c.4510+28C>A (n.4510+28C>A)
n.1022+28C>A
c.324+28C>A
c.4519+28C>A (n.4519+28C>A)
c.4204+28C>A (n.4204+28C>A)
c.2101+28C>A (n.2101+28C>A)
c.4543+28C>A (n.4543+28C>A)
c.4534+28C>A (n.4534+28C>A)
c.4525+28C>A (n.4525+28C>A)
c.2863+28C>A (n.2863+28C>A)
 gnomAD v4
Xg.108687722C=CA2450719272COL4A5c.4528+28C= (n.4528+28C=)
c.4510+28C= (n.4510+28C=)
n.1022+28C=
c.324+28C=
c.4519+28C= (n.4519+28C=)
c.4204+28C= (n.4204+28C=)
c.2101+28C= (n.2101+28C=)
c.4543+28C= (n.4543+28C=)
c.4534+28C= (n.4534+28C=)
c.4525+28C= (n.4525+28C=)
c.2863+28C= (n.2863+28C=)
Xg.108687722C>TCA10489368COL4A5c.4528+28C>T (n.4528+28C>T)
c.4510+28C>T (n.4510+28C>T)
n.1022+28C>T
c.324+28C>T
c.4519+28C>T (n.4519+28C>T)
c.4204+28C>T (n.4204+28C>T)
c.2101+28C>T (n.2101+28C>T)
c.4543+28C>T (n.4543+28C>T)
c.4534+28C>T (n.4534+28C>T)
c.4525+28C>T (n.4525+28C>T)
c.2863+28C>T (n.2863+28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687724G>CCA869825247COL4A5c.4528+30G>C (n.4528+30G>C)
c.4510+30G>C (n.4510+30G>C)
n.1022+30G>C
c.324+30G>C
c.4519+30G>C (n.4519+30G>C)
c.4204+30G>C (n.4204+30G>C)
c.2101+30G>C (n.2101+30G>C)
c.4543+30G>C (n.4543+30G>C)
c.4534+30G>C (n.4534+30G>C)
c.4525+30G>C (n.4525+30G>C)
c.2863+30G>C (n.2863+30G>C)
 dbSNP gnomAD v4
Xg.108687724G=CA2450719273COL4A5c.4528+30G= (n.4528+30G=)
c.4510+30G= (n.4510+30G=)
n.1022+30G=
c.324+30G=
c.4519+30G= (n.4519+30G=)
c.4204+30G= (n.4204+30G=)
c.2101+30G= (n.2101+30G=)
c.4543+30G= (n.4543+30G=)
c.4534+30G= (n.4534+30G=)
c.4525+30G= (n.4525+30G=)
c.2863+30G= (n.2863+30G=)
Xg.108687725_108687726delinsTGCA2450719274COL4A5c.4528+31_4528+32delinsTG (n.4528+31_4528+32delinsTG)
c.4510+31_4510+32delinsTG (n.4510+31_4510+32delinsTG)
n.1022+31_1022+32delinsTG
c.324+31_324+32delinsTG
c.4519+31_4519+32delinsTG (n.4519+31_4519+32delinsTG)
c.4204+31_4204+32delinsTG (n.4204+31_4204+32delinsTG)
c.2101+31_2101+32delinsTG (n.2101+31_2101+32delinsTG)
c.4543+31_4543+32delinsTG (n.4543+31_4543+32delinsTG)
c.4534+31_4534+32delinsTG (n.4534+31_4534+32delinsTG)
c.4525+31_4525+32delinsTG (n.4525+31_4525+32delinsTG)
c.2863+31_2863+32delinsTG (n.2863+31_2863+32delinsTG)
Xg.108687726delCA10489369COL4A5c.4528+32del (n.4528+32del)
c.4510+32del (n.4510+32del)
n.1022+32del
c.324+32del
c.4519+32del (n.4519+32del)
c.4204+32del (n.4204+32del)
c.2101+32del (n.2101+32del)
c.4543+32del (n.4543+32del)
c.4534+32del (n.4534+32del)
c.4525+32del (n.4525+32del)
c.2863+32del (n.2863+32del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687726G>ACA2579677165COL4A5c.4528+32G>A (n.4528+32G>A)
c.4510+32G>A (n.4510+32G>A)
n.1022+32G>A
c.324+32G>A
c.4519+32G>A (n.4519+32G>A)
c.4204+32G>A (n.4204+32G>A)
c.2101+32G>A (n.2101+32G>A)
c.4543+32G>A (n.4543+32G>A)
c.4534+32G>A (n.4534+32G>A)
c.4525+32G>A (n.4525+32G>A)
c.2863+32G>A (n.2863+32G>A)
Xg.108687727C>ACA10489370COL4A5c.4528+33C>A (n.4528+33C>A)
c.4510+33C>A (n.4510+33C>A)
n.1022+33C>A
c.324+33C>A
c.4519+33C>A (n.4519+33C>A)
c.4204+33C>A (n.4204+33C>A)
c.2101+33C>A (n.2101+33C>A)
c.4543+33C>A (n.4543+33C>A)
c.4534+33C>A (n.4534+33C>A)
c.4525+33C>A (n.4525+33C>A)
c.2863+33C>A (n.2863+33C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108687727C=CA2450719275COL4A5c.4528+33C= (n.4528+33C=)
c.4510+33C= (n.4510+33C=)
n.1022+33C=
c.324+33C=
c.4519+33C= (n.4519+33C=)
c.4204+33C= (n.4204+33C=)
c.2101+33C= (n.2101+33C=)
c.4543+33C= (n.4543+33C=)
c.4534+33C= (n.4534+33C=)
c.4525+33C= (n.4525+33C=)
c.2863+33C= (n.2863+33C=)
Xg.108687728C>TCA2694414844COL4A5c.4528+34C>T (n.4528+34C>T)
c.4510+34C>T (n.4510+34C>T)
n.1022+34C>T
c.324+34C>T
c.4519+34C>T (n.4519+34C>T)
c.4204+34C>T (n.4204+34C>T)
c.2101+34C>T (n.2101+34C>T)
c.4543+34C>T (n.4543+34C>T)
c.4534+34C>T (n.4534+34C>T)
c.4525+34C>T (n.4525+34C>T)
c.2863+34C>T (n.2863+34C>T)
 gnomAD v4
Xg.108687732delCA2539622741COL4A5c.4528+38del (n.4528+38del)
c.4510+38del (n.4510+38del)
n.1022+38del
c.324+38del
c.4519+38del (n.4519+38del)
c.4204+38del (n.4204+38del)
c.2101+38del (n.2101+38del)
c.4543+38del (n.4543+38del)
c.4534+38del (n.4534+38del)
c.4525+38del (n.4525+38del)
c.2863+38del (n.2863+38del)
 gnomAD v4
Xg.108687731T>CCA2579677166COL4A5c.4528+37T>C (n.4528+37T>C)
c.4510+37T>C (n.4510+37T>C)
n.1022+37T>C
c.324+37T>C
c.4519+37T>C (n.4519+37T>C)
c.4204+37T>C (n.4204+37T>C)
c.2101+37T>C (n.2101+37T>C)
c.4543+37T>C (n.4543+37T>C)
c.4534+37T>C (n.4534+37T>C)
c.4525+37T>C (n.4525+37T>C)
c.2863+37T>C (n.2863+37T>C)
Xg.108687733G>ACA869825250COL4A5c.4528+39G>A (n.4528+39G>A)
c.4510+39G>A (n.4510+39G>A)
n.1022+39G>A
c.324+39G>A
c.4519+39G>A (n.4519+39G>A)
c.4204+39G>A (n.4204+39G>A)
c.2101+39G>A (n.2101+39G>A)
c.4543+39G>A (n.4543+39G>A)
c.4534+39G>A (n.4534+39G>A)
c.4525+39G>A (n.4525+39G>A)
c.2863+39G>A (n.2863+39G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.108687733G=CA2450719276COL4A5c.4528+39G= (n.4528+39G=)
c.4510+39G= (n.4510+39G=)
n.1022+39G=
c.324+39G=
c.4519+39G= (n.4519+39G=)
c.4204+39G= (n.4204+39G=)
c.2101+39G= (n.2101+39G=)
c.4543+39G= (n.4543+39G=)
c.4534+39G= (n.4534+39G=)
c.4525+39G= (n.4525+39G=)
c.2863+39G= (n.2863+39G=)
Xg.108687733G>TCA2694414845COL4A5c.4528+39G>T (n.4528+39G>T)
c.4510+39G>T (n.4510+39G>T)
n.1022+39G>T
c.324+39G>T
c.4519+39G>T (n.4519+39G>T)
c.4204+39G>T (n.4204+39G>T)
c.2101+39G>T (n.2101+39G>T)
c.4543+39G>T (n.4543+39G>T)
c.4534+39G>T (n.4534+39G>T)
c.4525+39G>T (n.4525+39G>T)
c.2863+39G>T (n.2863+39G>T)
 gnomAD v4
Xg.108687738T>CCA10489371COL4A5c.4528+44T>C (n.4528+44T>C)
c.4510+44T>C (n.4510+44T>C)
n.1022+44T>C
c.324+44T>C
c.4519+44T>C (n.4519+44T>C)
c.4204+44T>C (n.4204+44T>C)
c.2101+44T>C (n.2101+44T>C)
c.4543+44T>C (n.4543+44T>C)
c.4534+44T>C (n.4534+44T>C)
c.4525+44T>C (n.4525+44T>C)
c.2863+44T>C (n.2863+44T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108687738T=CA2450719277COL4A5c.4528+44T= (n.4528+44T=)
c.4510+44T= (n.4510+44T=)
n.1022+44T=
c.324+44T=
c.4519+44T= (n.4519+44T=)
c.4204+44T= (n.4204+44T=)
c.2101+44T= (n.2101+44T=)
c.4543+44T= (n.4543+44T=)
c.4534+44T= (n.4534+44T=)
c.4525+44T= (n.4525+44T=)
c.2863+44T= (n.2863+44T=)
Xg.108687740T>GCA2579677167COL4A5c.4528+46T>G (n.4528+46T>G)
c.4510+46T>G (n.4510+46T>G)
n.1022+46T>G
c.324+46T>G
c.4519+46T>G (n.4519+46T>G)
c.4204+46T>G (n.4204+46T>G)
c.2101+46T>G (n.2101+46T>G)
c.4543+46T>G (n.4543+46T>G)
c.4534+46T>G (n.4534+46T>G)
c.4525+46T>G (n.4525+46T>G)
c.2863+46T>G (n.2863+46T>G)
Xg.108687742T>CCA517924719COL4A5c.4528+48T>C (n.4528+48T>C)
c.4510+48T>C (n.4510+48T>C)
n.1022+48T>C
c.324+48T>C
c.4519+48T>C (n.4519+48T>C)
c.4204+48T>C (n.4204+48T>C)
c.2101+48T>C (n.2101+48T>C)
c.4543+48T>C (n.4543+48T>C)
c.4534+48T>C (n.4534+48T>C)
c.4525+48T>C (n.4525+48T>C)
c.2863+48T>C (n.2863+48T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.108687742T=CA2450719278COL4A5c.4528+48T= (n.4528+48T=)
c.4510+48T= (n.4510+48T=)
n.1022+48T=
c.324+48T=
c.4519+48T= (n.4519+48T=)
c.4204+48T= (n.4204+48T=)
c.2101+48T= (n.2101+48T=)
c.4543+48T= (n.4543+48T=)
c.4534+48T= (n.4534+48T=)
c.4525+48T= (n.4525+48T=)
c.2863+48T= (n.2863+48T=)
Xg.108687743C>ACA2694414846COL4A5c.4528+49C>A (n.4528+49C>A)
c.4510+49C>A (n.4510+49C>A)
n.1022+49C>A
c.324+49C>A
c.4519+49C>A (n.4519+49C>A)
c.4204+49C>A (n.4204+49C>A)
c.2101+49C>A (n.2101+49C>A)
c.4543+49C>A (n.4543+49C>A)
c.4534+49C>A (n.4534+49C>A)
c.4525+49C>A (n.4525+49C>A)
c.2863+49C>A (n.2863+49C>A)
 gnomAD v4
Xg.108687744A=CA2450719280COL4A5c.4528+50A= (n.4528+50A=)
c.4510+50A= (n.4510+50A=)
n.1022+50A=
c.324+50A=
c.4519+50A= (n.4519+50A=)
c.4204+50A= (n.4204+50A=)
c.2101+50A= (n.2101+50A=)
c.4543+50A= (n.4543+50A=)
c.4534+50A= (n.4534+50A=)
c.4525+50A= (n.4525+50A=)
c.2863+50A= (n.2863+50A=)
Xg.108687744A>GCA2450719279COL4A5c.4528+50A>G (n.4528+50A>G)
c.4510+50A>G (n.4510+50A>G)
n.1022+50A>G
c.324+50A>G
c.4519+50A>G (n.4519+50A>G)
c.4204+50A>G (n.4204+50A>G)
c.2101+50A>G (n.2101+50A>G)
c.4543+50A>G (n.4543+50A>G)
c.4534+50A>G (n.4534+50A>G)
c.4525+50A>G (n.4525+50A>G)
c.2863+50A>G (n.2863+50A>G)
 dbSNP

Number of alleles fetched