Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108695252C>TCA2697544695COL4A5c.4822-15C>T (n.4822-15C>T)
c.4804-15C>T (n.4804-15C>T)
n.1316-15C>T
n.1638C>T
c.219+331C>T (n.219+331C>T)
c.325-1045C>T
c.4813-15C>T (n.4813-15C>T)
c.4498-15C>T (n.4498-15C>T)
c.2395-15C>T (n.2395-15C>T)
c.4837-15C>T (n.4837-15C>T)
c.4828-15C>T (n.4828-15C>T)
c.4819-15C>T (n.4819-15C>T)
c.3157-15C>T (n.3157-15C>T)
 ClinVar
Xg.108695257delCA2580100248COL4A5c.4822-10del (n.4822-10del)
c.4804-10del (n.4804-10del)
n.1316-10del
n.1643del
c.219+336del (n.219+336del)
c.325-1040del
c.4813-10del (n.4813-10del)
c.4498-10del (n.4498-10del)
c.2395-10del (n.2395-10del)
c.4837-10del (n.4837-10del)
c.4828-10del (n.4828-10del)
c.4819-10del (n.4819-10del)
c.3157-10del (n.3157-10del)
 ClinVar
Xg.108695257T>CCA2580100249COL4A5c.4822-10T>C (n.4822-10T>C)
c.4804-10T>C (n.4804-10T>C)
n.1316-10T>C
n.1643T>C
c.219+336T>C (n.219+336T>C)
c.325-1040T>C
c.4813-10T>C (n.4813-10T>C)
c.4498-10T>C (n.4498-10T>C)
c.2395-10T>C (n.2395-10T>C)
c.4837-10T>C (n.4837-10T>C)
c.4828-10T>C (n.4828-10T>C)
c.4819-10T>C (n.4819-10T>C)
c.3157-10T>C (n.3157-10T>C)
 ClinVar
Xg.108695263A=CA2450721718COL4A5c.4822-4A= (n.4822-4A=)
c.4804-4A= (n.4804-4A=)
n.1316-4A=
n.1649A=
c.219+342A= (n.219+342A=)
c.325-1034A=
c.4813-4A= (n.4813-4A=)
c.4498-4A= (n.4498-4A=)
c.2395-4A= (n.2395-4A=)
c.4837-4A= (n.4837-4A=)
c.4828-4A= (n.4828-4A=)
c.4819-4A= (n.4819-4A=)
c.3157-4A= (n.3157-4A=)
Xg.108695263A>GCA644063542COL4A5c.4822-4A>G (n.4822-4A>G)
c.4804-4A>G (n.4804-4A>G)
n.1316-4A>G
n.1649A>G
c.219+342A>G (n.219+342A>G)
c.325-1034A>G
c.4813-4A>G (n.4813-4A>G)
c.4498-4A>G (n.4498-4A>G)
c.2395-4A>G (n.2395-4A>G)
c.4837-4A>G (n.4837-4A>G)
c.4828-4A>G (n.4828-4A>G)
c.4819-4A>G (n.4819-4A>G)
c.3157-4A>G (n.3157-4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695265A=CA2450721719COL4A5c.4822-2A= (n.4822-2A=)
c.4804-2A= (n.4804-2A=)
n.1316-2A=
n.1651A=
c.219+344A= (n.219+344A=)
c.325-1032A=
c.4813-2A= (n.4813-2A=)
c.4498-2A= (n.4498-2A=)
c.2395-2A= (n.2395-2A=)
c.4837-2A= (n.4837-2A=)
c.4828-2A= (n.4828-2A=)
c.4819-2A= (n.4819-2A=)
c.3157-2A= (n.3157-2A=)
Xg.108695265A>CCA414132635COL4A5c.4822-2A>C (n.4822-2A>C)
c.4804-2A>C (n.4804-2A>C)
n.1316-2A>C
n.1651A>C
c.219+344A>C (n.219+344A>C)
c.325-1032A>C
c.4813-2A>C (n.4813-2A>C)
c.4498-2A>C (n.4498-2A>C)
c.2395-2A>C (n.2395-2A>C)
c.4837-2A>C (n.4837-2A>C)
c.4828-2A>C (n.4828-2A>C)
c.4819-2A>C (n.4819-2A>C)
c.3157-2A>C (n.3157-2A>C)
Xg.108695265A>GCA414132634COL4A5c.4822-2A>G (n.4822-2A>G)
c.4804-2A>G (n.4804-2A>G)
n.1316-2A>G
n.1651A>G
c.219+344A>G (n.219+344A>G)
c.325-1032A>G
c.4813-2A>G (n.4813-2A>G)
c.4498-2A>G (n.4498-2A>G)
c.2395-2A>G (n.2395-2A>G)
c.4837-2A>G (n.4837-2A>G)
c.4828-2A>G (n.4828-2A>G)
c.4819-2A>G (n.4819-2A>G)
c.3157-2A>G (n.3157-2A>G)
Xg.108695265A>TCA414132633COL4A5c.4822-2A>T (n.4822-2A>T)
c.4804-2A>T (n.4804-2A>T)
n.1316-2A>T
n.1651A>T
c.219+344A>T (n.219+344A>T)
c.325-1032A>T
c.4813-2A>T (n.4813-2A>T)
c.4498-2A>T (n.4498-2A>T)
c.2395-2A>T (n.2395-2A>T)
c.4837-2A>T (n.4837-2A>T)
c.4828-2A>T (n.4828-2A>T)
c.4819-2A>T (n.4819-2A>T)
c.3157-2A>T (n.3157-2A>T)
Xg.108695266G>ACA414132636COL4A5c.4822-1G>A (n.4822-1G>A)
c.4804-1G>A (n.4804-1G>A)
n.1316-1G>A
n.1652G>A
c.219+345G>A (n.219+345G>A)
c.325-1031G>A
c.4813-1G>A (n.4813-1G>A)
c.4498-1G>A (n.4498-1G>A)
c.2395-1G>A (n.2395-1G>A)
c.4837-1G>A (n.4837-1G>A)
c.4828-1G>A (n.4828-1G>A)
c.4819-1G>A (n.4819-1G>A)
c.3157-1G>A (n.3157-1G>A)
Xg.108695266G>CCA414132637COL4A5c.4822-1G>C (n.4822-1G>C)
c.4804-1G>C (n.4804-1G>C)
n.1316-1G>C
n.1652G>C
c.219+345G>C (n.219+345G>C)
c.325-1031G>C
c.4813-1G>C (n.4813-1G>C)
c.4498-1G>C (n.4498-1G>C)
c.2395-1G>C (n.2395-1G>C)
c.4837-1G>C (n.4837-1G>C)
c.4828-1G>C (n.4828-1G>C)
c.4819-1G>C (n.4819-1G>C)
c.3157-1G>C (n.3157-1G>C)
Xg.108695266G=CA2450721720COL4A5c.4822-1G= (n.4822-1G=)
c.4804-1G= (n.4804-1G=)
n.1316-1G=
n.1652G=
c.219+345G= (n.219+345G=)
c.325-1031G=
c.4813-1G= (n.4813-1G=)
c.4498-1G= (n.4498-1G=)
c.2395-1G= (n.2395-1G=)
c.4837-1G= (n.4837-1G=)
c.4828-1G= (n.4828-1G=)
c.4819-1G= (n.4819-1G=)
c.3157-1G= (n.3157-1G=)
Xg.108695266G>TCA414132638COL4A5c.4822-1G>T (n.4822-1G>T)
c.4804-1G>T (n.4804-1G>T)
n.1316-1G>T
n.1652G>T
c.219+345G>T (n.219+345G>T)
c.325-1031G>T
c.4813-1G>T (n.4813-1G>T)
c.4498-1G>T (n.4498-1G>T)
c.2395-1G>T (n.2395-1G>T)
c.4837-1G>T (n.4837-1G>T)
c.4828-1G>T (n.4828-1G>T)
c.4819-1G>T (n.4819-1G>T)
c.3157-1G>T (n.3157-1G>T)
 ClinVar dbSNP
Xg.108695267C>ACA414132639COL4A5c.4822C>A (p.His1608Asn)
c.4804C>A (p.His1602Asn)
n.1316C>A
n.1653C>A
c.219+346C>A (n.219+346C>A)
c.325-1030C>A
c.4813C>A (p.His1605Asn)
c.4498C>A (p.His1500Asn)
c.2395C>A (p.His799Asn)
c.4837C>A (p.His1613Asn)
c.4828C>A (p.His1610Asn)
c.4819C>A (p.His1607Asn)
c.3157C>A (p.His1053Asn)
Xg.108695267C>GCA414132640COL4A5c.4822C>G (p.His1608Asp)
c.4804C>G (p.His1602Asp)
n.1316C>G
n.1653C>G
c.219+346C>G (n.219+346C>G)
c.325-1030C>G
c.4813C>G (p.His1605Asp)
c.4498C>G (p.His1500Asp)
c.2395C>G (p.His799Asp)
c.4837C>G (p.His1613Asp)
c.4828C>G (p.His1610Asp)
c.4819C>G (p.His1607Asp)
c.3157C>G (p.His1053Asp)
Xg.108695267C>TCA414132641COL4A5c.4822C>T (p.His1608Tyr)
c.4804C>T (p.His1602Tyr)
n.1316C>T
n.1653C>T
c.219+346C>T (n.219+346C>T)
c.325-1030C>T
c.4813C>T (p.His1605Tyr)
c.4498C>T (p.His1500Tyr)
c.2395C>T (p.His799Tyr)
c.4837C>T (p.His1613Tyr)
c.4828C>T (p.His1610Tyr)
c.4819C>T (p.His1607Tyr)
c.3157C>T (p.His1053Tyr)
Xg.108695268A=CA2450721721COL4A5c.4823A= (p.His1608=)
c.4805A= (p.His1602=)
n.1317A=
n.1654A=
c.219+347A= (n.219+347A=)
c.325-1029A=
c.4814A= (p.His1605=)
c.4499A= (p.His1500=)
c.2396A= (p.His799=)
c.4838A= (p.His1613=)
c.4829A= (p.His1610=)
c.4820A= (p.His1607=)
c.3158A= (p.His1053=)
Xg.108695268A>CCA414132643COL4A5c.4823A>C (p.His1608Pro)
c.4805A>C (p.His1602Pro)
n.1317A>C
n.1654A>C
c.219+347A>C (n.219+347A>C)
c.325-1029A>C
c.4814A>C (p.His1605Pro)
c.4499A>C (p.His1500Pro)
c.2396A>C (p.His799Pro)
c.4838A>C (p.His1613Pro)
c.4829A>C (p.His1610Pro)
c.4820A>C (p.His1607Pro)
c.3158A>C (p.His1053Pro)
Xg.108695268A>GCA10489435COL4A5c.4823A>G (p.His1608Arg)
c.4805A>G (p.His1602Arg)
n.1317A>G
n.1654A>G
c.219+347A>G (n.219+347A>G)
c.325-1029A>G
c.4814A>G (p.His1605Arg)
c.4499A>G (p.His1500Arg)
c.2396A>G (p.His799Arg)
c.4838A>G (p.His1613Arg)
c.4829A>G (p.His1610Arg)
c.4820A>G (p.His1607Arg)
c.3158A>G (p.His1053Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695268A>TCA414132642COL4A5c.4823A>T (p.His1608Leu)
c.4805A>T (p.His1602Leu)
n.1317A>T
n.1654A>T
c.219+347A>T (n.219+347A>T)
c.325-1029A>T
c.4814A>T (p.His1605Leu)
c.4499A>T (p.His1500Leu)
c.2396A>T (p.His799Leu)
c.4838A>T (p.His1613Leu)
c.4829A>T (p.His1610Leu)
c.4820A>T (p.His1607Leu)
c.3158A>T (p.His1053Leu)
Xg.108695269T>ACA414132644COL4A5c.4824T>A (p.His1608Gln)
c.4806T>A (p.His1602Gln)
n.1318T>A
n.1655T>A
c.219+348T>A (n.219+348T>A)
c.325-1028T>A
c.4815T>A (p.His1605Gln)
c.4500T>A (p.His1500Gln)
c.2397T>A (p.His799Gln)
c.4839T>A (p.His1613Gln)
c.4830T>A (p.His1610Gln)
c.4821T>A (p.His1607Gln)
c.3159T>A (p.His1053Gln)
Xg.108695269T>CCA517926053COL4A5c.4824T>C (p.His1608=)
c.4806T>C (p.His1602=)
n.1318T>C
n.1655T>C
c.219+348T>C (n.219+348T>C)
c.325-1028T>C
c.4815T>C (p.His1605=)
c.4500T>C (p.His1500=)
c.2397T>C (p.His799=)
c.4839T>C (p.His1613=)
c.4830T>C (p.His1610=)
c.4821T>C (p.His1607=)
c.3159T>C (p.His1053=)
Xg.108695269T>GCA414132645COL4A5c.4824T>G (p.His1608Gln)
c.4806T>G (p.His1602Gln)
n.1318T>G
n.1655T>G
c.219+348T>G (n.219+348T>G)
c.325-1028T>G
c.4815T>G (p.His1605Gln)
c.4500T>G (p.His1500Gln)
c.2397T>G (p.His799Gln)
c.4839T>G (p.His1613Gln)
c.4830T>G (p.His1610Gln)
c.4821T>G (p.His1607Gln)
c.3159T>G (p.His1053Gln)
Xg.108695270A=CA2450721722COL4A5c.4825A= (p.Thr1609=)
c.4807A= (p.Thr1603=)
n.1319A=
n.1656A=
c.219+349A= (n.219+349A=)
c.325-1027A=
c.4816A= (p.Thr1606=)
c.4501A= (p.Thr1501=)
c.2398A= (p.Thr800=)
c.4840A= (p.Thr1614=)
c.4831A= (p.Thr1611=)
c.4822A= (p.Thr1608=)
c.3160A= (p.Thr1054=)
Xg.108695270A>CCA414132646COL4A5c.4825A>C (p.Thr1609Pro)
c.4807A>C (p.Thr1603Pro)
n.1319A>C
n.1656A>C
c.219+349A>C (n.219+349A>C)
c.325-1027A>C
c.4816A>C (p.Thr1606Pro)
c.4501A>C (p.Thr1501Pro)
c.2398A>C (p.Thr800Pro)
c.4840A>C (p.Thr1614Pro)
c.4831A>C (p.Thr1611Pro)
c.4822A>C (p.Thr1608Pro)
c.3160A>C (p.Thr1054Pro)
Xg.108695270A>GCA10489436COL4A5c.4825A>G (p.Thr1609Ala)
c.4807A>G (p.Thr1603Ala)
n.1319A>G
n.1656A>G
c.219+349A>G (n.219+349A>G)
c.325-1027A>G
c.4816A>G (p.Thr1606Ala)
c.4501A>G (p.Thr1501Ala)
c.2398A>G (p.Thr800Ala)
c.4840A>G (p.Thr1614Ala)
c.4831A>G (p.Thr1611Ala)
c.4822A>G (p.Thr1608Ala)
c.3160A>G (p.Thr1054Ala)
 dbSNP ExAC gnomAD v4
Xg.108695270A>TCA414132647COL4A5c.4825A>T (p.Thr1609Ser)
c.4807A>T (p.Thr1603Ser)
n.1319A>T
n.1656A>T
c.219+349A>T (n.219+349A>T)
c.325-1027A>T
c.4816A>T (p.Thr1606Ser)
c.4501A>T (p.Thr1501Ser)
c.2398A>T (p.Thr800Ser)
c.4840A>T (p.Thr1614Ser)
c.4831A>T (p.Thr1611Ser)
c.4822A>T (p.Thr1608Ser)
c.3160A>T (p.Thr1054Ser)
 COSMIC COSMIC
Xg.108695271C>ACA414132648COL4A5c.4826C>A (p.Thr1609Lys)
c.4808C>A (p.Thr1603Lys)
n.1320C>A
n.1657C>A
c.219+350C>A (n.219+350C>A)
c.325-1026C>A
c.4817C>A (p.Thr1606Lys)
c.4502C>A (p.Thr1501Lys)
c.2399C>A (p.Thr800Lys)
c.4841C>A (p.Thr1614Lys)
c.4832C>A (p.Thr1611Lys)
c.4823C>A (p.Thr1608Lys)
c.3161C>A (p.Thr1054Lys)
Xg.108695271C>GCA414132650COL4A5c.4826C>G (p.Thr1609Arg)
c.4808C>G (p.Thr1603Arg)
n.1320C>G
n.1657C>G
c.219+350C>G (n.219+350C>G)
c.325-1026C>G
c.4817C>G (p.Thr1606Arg)
c.4502C>G (p.Thr1501Arg)
c.2399C>G (p.Thr800Arg)
c.4841C>G (p.Thr1614Arg)
c.4832C>G (p.Thr1611Arg)
c.4823C>G (p.Thr1608Arg)
c.3161C>G (p.Thr1054Arg)
Xg.108695271C>TCA414132649COL4A5c.4826C>T (p.Thr1609Ile)
c.4808C>T (p.Thr1603Ile)
n.1320C>T
n.1657C>T
c.219+350C>T (n.219+350C>T)
c.325-1026C>T
c.4817C>T (p.Thr1606Ile)
c.4502C>T (p.Thr1501Ile)
c.2399C>T (p.Thr800Ile)
c.4841C>T (p.Thr1614Ile)
c.4832C>T (p.Thr1611Ile)
c.4823C>T (p.Thr1608Ile)
c.3161C>T (p.Thr1054Ile)
Xg.108695272A>CCA517926054COL4A5c.4827A>C (p.Thr1609=)
c.4809A>C (p.Thr1603=)
n.1321A>C
n.1658A>C
c.219+351A>C (n.219+351A>C)
c.325-1025A>C
c.4818A>C (p.Thr1606=)
c.4503A>C (p.Thr1501=)
c.2400A>C (p.Thr800=)
c.4842A>C (p.Thr1614=)
c.4833A>C (p.Thr1611=)
c.4824A>C (p.Thr1608=)
c.3162A>C (p.Thr1054=)
Xg.108695272A>GCA517926055COL4A5c.4827A>G (p.Thr1609=)
c.4809A>G (p.Thr1603=)
n.1321A>G
n.1658A>G
c.219+351A>G (n.219+351A>G)
c.325-1025A>G
c.4818A>G (p.Thr1606=)
c.4503A>G (p.Thr1501=)
c.2400A>G (p.Thr800=)
c.4842A>G (p.Thr1614=)
c.4833A>G (p.Thr1611=)
c.4824A>G (p.Thr1608=)
c.3162A>G (p.Thr1054=)
Xg.108695272A>TCA517926056COL4A5c.4827A>T (p.Thr1609=)
c.4809A>T (p.Thr1603=)
n.1321A>T
n.1658A>T
c.219+351A>T (n.219+351A>T)
c.325-1025A>T
c.4818A>T (p.Thr1606=)
c.4503A>T (p.Thr1501=)
c.2400A>T (p.Thr800=)
c.4842A>T (p.Thr1614=)
c.4833A>T (p.Thr1611=)
c.4824A>T (p.Thr1608=)
c.3162A>T (p.Thr1054=)
Xg.108695273A=CA2450721723COL4A5c.4828A= (p.Ser1610=)
c.4810A= (p.Ser1604=)
n.1322A=
n.1659A=
c.219+352A= (n.219+352A=)
c.325-1024A=
c.4819A= (p.Ser1607=)
c.4504A= (p.Ser1502=)
c.2401A= (p.Ser801=)
c.4843A= (p.Ser1615=)
c.4834A= (p.Ser1612=)
c.4825A= (p.Ser1609=)
c.3163A= (p.Ser1055=)
Xg.108695273A>CCA414132651COL4A5c.4828A>C (p.Ser1610Arg)
c.4810A>C (p.Ser1604Arg)
n.1322A>C
n.1659A>C
c.219+352A>C (n.219+352A>C)
c.325-1024A>C
c.4819A>C (p.Ser1607Arg)
c.4504A>C (p.Ser1502Arg)
c.2401A>C (p.Ser801Arg)
c.4843A>C (p.Ser1615Arg)
c.4834A>C (p.Ser1612Arg)
c.4825A>C (p.Ser1609Arg)
c.3163A>C (p.Ser1055Arg)
 gnomAD v4
Xg.108695273A>GCA10489437COL4A5c.4828A>G (p.Ser1610Gly)
c.4810A>G (p.Ser1604Gly)
n.1322A>G
n.1659A>G
c.219+352A>G (n.219+352A>G)
c.325-1024A>G
c.4819A>G (p.Ser1607Gly)
c.4504A>G (p.Ser1502Gly)
c.2401A>G (p.Ser801Gly)
c.4843A>G (p.Ser1615Gly)
c.4834A>G (p.Ser1612Gly)
c.4825A>G (p.Ser1609Gly)
c.3163A>G (p.Ser1055Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108695273A>TCA414132652COL4A5c.4828A>T (p.Ser1610Cys)
c.4810A>T (p.Ser1604Cys)
n.1322A>T
n.1659A>T
c.219+352A>T (n.219+352A>T)
c.325-1024A>T
c.4819A>T (p.Ser1607Cys)
c.4504A>T (p.Ser1502Cys)
c.2401A>T (p.Ser801Cys)
c.4843A>T (p.Ser1615Cys)
c.4834A>T (p.Ser1612Cys)
c.4825A>T (p.Ser1609Cys)
c.3163A>T (p.Ser1055Cys)
Xg.108695274G>ACA414132653COL4A5c.4829G>A (p.Ser1610Asn)
c.4811G>A (p.Ser1604Asn)
n.1323G>A
n.1660G>A
c.219+353G>A (n.219+353G>A)
c.325-1023G>A
c.4820G>A (p.Ser1607Asn)
c.4505G>A (p.Ser1502Asn)
c.2402G>A (p.Ser801Asn)
c.4844G>A (p.Ser1615Asn)
c.4835G>A (p.Ser1612Asn)
c.4826G>A (p.Ser1609Asn)
c.3164G>A (p.Ser1055Asn)
 dbSNP
Xg.108695274G>CCA414132654COL4A5c.4829G>C (p.Ser1610Thr)
c.4811G>C (p.Ser1604Thr)
n.1323G>C
n.1660G>C
c.219+353G>C (n.219+353G>C)
c.325-1023G>C
c.4820G>C (p.Ser1607Thr)
c.4505G>C (p.Ser1502Thr)
c.2402G>C (p.Ser801Thr)
c.4844G>C (p.Ser1615Thr)
c.4835G>C (p.Ser1612Thr)
c.4826G>C (p.Ser1609Thr)
c.3164G>C (p.Ser1055Thr)
 dbSNP
Xg.108695274G=CA2450721724COL4A5c.4829G= (p.Ser1610=)
c.4811G= (p.Ser1604=)
n.1323G=
n.1660G=
c.219+353G= (n.219+353G=)
c.325-1023G=
c.4820G= (p.Ser1607=)
c.4505G= (p.Ser1502=)
c.2402G= (p.Ser801=)
c.4844G= (p.Ser1615=)
c.4835G= (p.Ser1612=)
c.4826G= (p.Ser1609=)
c.3164G= (p.Ser1055=)
Xg.108695274G>TCA414132655COL4A5c.4829G>T (p.Ser1610Ile)
c.4811G>T (p.Ser1604Ile)
n.1323G>T
n.1660G>T
c.219+353G>T (n.219+353G>T)
c.325-1023G>T
c.4820G>T (p.Ser1607Ile)
c.4505G>T (p.Ser1502Ile)
c.2402G>T (p.Ser801Ile)
c.4844G>T (p.Ser1615Ile)
c.4835G>T (p.Ser1612Ile)
c.4826G>T (p.Ser1609Ile)
c.3164G>T (p.Ser1055Ile)
Xg.108695275T>ACA414132656COL4A5c.4830T>A (p.Ser1610Arg)
c.4812T>A (p.Ser1604Arg)
n.1324T>A
n.1661T>A
c.219+354T>A (n.219+354T>A)
c.325-1022T>A
c.4821T>A (p.Ser1607Arg)
c.4506T>A (p.Ser1502Arg)
c.2403T>A (p.Ser801Arg)
c.4845T>A (p.Ser1615Arg)
c.4836T>A (p.Ser1612Arg)
c.4827T>A (p.Ser1609Arg)
c.3165T>A (p.Ser1055Arg)
Xg.108695275T>CCA517926057COL4A5c.4830T>C (p.Ser1610=)
c.4812T>C (p.Ser1604=)
n.1324T>C
n.1661T>C
c.219+354T>C (n.219+354T>C)
c.325-1022T>C
c.4821T>C (p.Ser1607=)
c.4506T>C (p.Ser1502=)
c.2403T>C (p.Ser801=)
c.4845T>C (p.Ser1615=)
c.4836T>C (p.Ser1612=)
c.4827T>C (p.Ser1609=)
c.3165T>C (p.Ser1055=)
Xg.108695275T>GCA414132657COL4A5c.4830T>G (p.Ser1610Arg)
c.4812T>G (p.Ser1604Arg)
n.1324T>G
n.1661T>G
c.219+354T>G (n.219+354T>G)
c.325-1022T>G
c.4821T>G (p.Ser1607Arg)
c.4506T>G (p.Ser1502Arg)
c.2403T>G (p.Ser801Arg)
c.4845T>G (p.Ser1615Arg)
c.4836T>G (p.Ser1612Arg)
c.4827T>G (p.Ser1609Arg)
c.3165T>G (p.Ser1055Arg)
Xg.108695276G>ACA414132658COL4A5c.4831G>A (p.Ala1611Thr)
c.4813G>A (p.Ala1605Thr)
n.1325G>A
n.1662G>A
c.219+355G>A (n.219+355G>A)
c.325-1021G>A
c.4822G>A (p.Ala1608Thr)
c.4507G>A (p.Ala1503Thr)
c.2404G>A (p.Ala802Thr)
c.4846G>A (p.Ala1616Thr)
c.4837G>A (p.Ala1613Thr)
c.4828G>A (p.Ala1610Thr)
c.3166G>A (p.Ala1056Thr)
 ClinVar dbSNP
Xg.108695276G>CCA414132659COL4A5c.4831G>C (p.Ala1611Pro)
c.4813G>C (p.Ala1605Pro)
n.1325G>C
n.1662G>C
c.219+355G>C (n.219+355G>C)
c.325-1021G>C
c.4822G>C (p.Ala1608Pro)
c.4507G>C (p.Ala1503Pro)
c.2404G>C (p.Ala802Pro)
c.4846G>C (p.Ala1616Pro)
c.4837G>C (p.Ala1613Pro)
c.4828G>C (p.Ala1610Pro)
c.3166G>C (p.Ala1056Pro)
Xg.108695276G=CA2450721725COL4A5c.4831G= (p.Ala1611=)
c.4813G= (p.Ala1605=)
n.1325G=
n.1662G=
c.219+355G= (n.219+355G=)
c.325-1021G=
c.4822G= (p.Ala1608=)
c.4507G= (p.Ala1503=)
c.2404G= (p.Ala802=)
c.4846G= (p.Ala1616=)
c.4837G= (p.Ala1613=)
c.4828G= (p.Ala1610=)
c.3166G= (p.Ala1056=)
Xg.108695276G>TCA414132660COL4A5c.4831G>T (p.Ala1611Ser)
c.4813G>T (p.Ala1605Ser)
n.1325G>T
n.1662G>T
c.219+355G>T (n.219+355G>T)
c.325-1021G>T
c.4822G>T (p.Ala1608Ser)
c.4507G>T (p.Ala1503Ser)
c.2404G>T (p.Ala802Ser)
c.4846G>T (p.Ala1616Ser)
c.4837G>T (p.Ala1613Ser)
c.4828G>T (p.Ala1610Ser)
c.3166G>T (p.Ala1056Ser)
Xg.108695277C>ACA414132663COL4A5c.4832C>A (p.Ala1611Glu)
c.4814C>A (p.Ala1605Glu)
n.1326C>A
n.1663C>A
c.219+356C>A (n.219+356C>A)
c.325-1020C>A
c.4823C>A (p.Ala1608Glu)
c.4508C>A (p.Ala1503Glu)
c.2405C>A (p.Ala802Glu)
c.4847C>A (p.Ala1616Glu)
c.4838C>A (p.Ala1613Glu)
c.4829C>A (p.Ala1610Glu)
c.3167C>A (p.Ala1056Glu)
Xg.108695277C>GCA414132662COL4A5c.4832C>G (p.Ala1611Gly)
c.4814C>G (p.Ala1605Gly)
n.1326C>G
n.1663C>G
c.219+356C>G (n.219+356C>G)
c.325-1020C>G
c.4823C>G (p.Ala1608Gly)
c.4508C>G (p.Ala1503Gly)
c.2405C>G (p.Ala802Gly)
c.4847C>G (p.Ala1616Gly)
c.4838C>G (p.Ala1613Gly)
c.4829C>G (p.Ala1610Gly)
c.3167C>G (p.Ala1056Gly)
 gnomAD v4
Xg.108695277C>TCA414132661COL4A5c.4832C>T (p.Ala1611Val)
c.4814C>T (p.Ala1605Val)
n.1326C>T
n.1663C>T
c.219+356C>T (n.219+356C>T)
c.325-1020C>T
c.4823C>T (p.Ala1608Val)
c.4508C>T (p.Ala1503Val)
c.2405C>T (p.Ala802Val)
c.4847C>T (p.Ala1616Val)
c.4838C>T (p.Ala1613Val)
c.4829C>T (p.Ala1610Val)
c.3167C>T (p.Ala1056Val)
Xg.108695278A=CA2450721726COL4A5c.4833A= (p.Ala1611=)
c.4815A= (p.Ala1605=)
n.1327A=
n.1664A=
c.219+357A= (n.219+357A=)
c.325-1019A=
c.4824A= (p.Ala1608=)
c.4509A= (p.Ala1503=)
c.2406A= (p.Ala802=)
c.4848A= (p.Ala1616=)
c.4839A= (p.Ala1613=)
c.4830A= (p.Ala1610=)
c.3168A= (p.Ala1056=)
Xg.108695278A>CCA517926058COL4A5c.4833A>C (p.Ala1611=)
c.4815A>C (p.Ala1605=)
n.1327A>C
n.1664A>C
c.219+357A>C (n.219+357A>C)
c.325-1019A>C
c.4824A>C (p.Ala1608=)
c.4509A>C (p.Ala1503=)
c.2406A>C (p.Ala802=)
c.4848A>C (p.Ala1616=)
c.4839A>C (p.Ala1613=)
c.4830A>C (p.Ala1610=)
c.3168A>C (p.Ala1056=)
Xg.108695278A>GCA517926059COL4A5c.4833A>G (p.Ala1611=)
c.4815A>G (p.Ala1605=)
n.1327A>G
n.1664A>G
c.219+357A>G (n.219+357A>G)
c.325-1019A>G
c.4824A>G (p.Ala1608=)
c.4509A>G (p.Ala1503=)
c.2406A>G (p.Ala802=)
c.4848A>G (p.Ala1616=)
c.4839A>G (p.Ala1613=)
c.4830A>G (p.Ala1610=)
c.3168A>G (p.Ala1056=)
Xg.108695278A>TCA517926060COL4A5c.4833A>T (p.Ala1611=)
c.4815A>T (p.Ala1605=)
n.1327A>T
n.1664A>T
c.219+357A>T (n.219+357A>T)
c.325-1019A>T
c.4824A>T (p.Ala1608=)
c.4509A>T (p.Ala1503=)
c.2406A>T (p.Ala802=)
c.4848A>T (p.Ala1616=)
c.4839A>T (p.Ala1613=)
c.4830A>T (p.Ala1610=)
c.3168A>T (p.Ala1056=)
 COSMIC COSMIC
Xg.108695279G>ACA414132664COL4A5c.4834G>A (p.Gly1612Arg)
c.4816G>A (p.Gly1606Arg)
n.1328G>A
n.1665G>A
c.219+358G>A (n.219+358G>A)
c.325-1018G>A
c.4825G>A (p.Gly1609Arg)
c.4510G>A (p.Gly1504Arg)
c.2407G>A (p.Gly803Arg)
c.4849G>A (p.Gly1617Arg)
c.4840G>A (p.Gly1614Arg)
c.4831G>A (p.Gly1611Arg)
c.3169G>A (p.Gly1057Arg)
 dbSNP
Xg.108695279G>CCA414132666COL4A5c.4834G>C (p.Gly1612Arg)
c.4816G>C (p.Gly1606Arg)
n.1328G>C
n.1665G>C
c.219+358G>C (n.219+358G>C)
c.325-1018G>C
c.4825G>C (p.Gly1609Arg)
c.4510G>C (p.Gly1504Arg)
c.2407G>C (p.Gly803Arg)
c.4849G>C (p.Gly1617Arg)
c.4840G>C (p.Gly1614Arg)
c.4831G>C (p.Gly1611Arg)
c.3169G>C (p.Gly1057Arg)
Xg.108695279G=CA2450721727COL4A5c.4834G= (p.Gly1612=)
c.4816G= (p.Gly1606=)
n.1328G=
n.1665G=
c.219+358G= (n.219+358G=)
c.325-1018G=
c.4825G= (p.Gly1609=)
c.4510G= (p.Gly1504=)
c.2407G= (p.Gly803=)
c.4849G= (p.Gly1617=)
c.4840G= (p.Gly1614=)
c.4831G= (p.Gly1611=)
c.3169G= (p.Gly1057=)
Xg.108695279G>TCA414132665COL4A5c.4834G>T (p.Gly1612Trp)
c.4816G>T (p.Gly1606Trp)
n.1328G>T
n.1665G>T
c.219+358G>T (n.219+358G>T)
c.325-1018G>T
c.4825G>T (p.Gly1609Trp)
c.4510G>T (p.Gly1504Trp)
c.2407G>T (p.Gly803Trp)
c.4849G>T (p.Gly1617Trp)
c.4840G>T (p.Gly1614Trp)
c.4831G>T (p.Gly1611Trp)
c.3169G>T (p.Gly1057Trp)
Xg.108695282dupCA891843704COL4A5c.4837dup (p.Ala1613GlyfsTer?)
c.4819dup (p.Ala1607GlyfsTer?)
n.1331dup
n.1668dup
c.219+361dup (n.219+361dup)
c.325-1015dup
c.4828dup (p.Ala1610GlyfsTer?)
c.4513dup (p.Ala1505GlyfsTer?)
c.2410dup (p.Ala804GlyfsTer?)
c.4852dup (p.Ala1618GlyfsTer?)
c.4843dup (p.Ala1615GlyfsTer?)
c.4834dup (p.Ala1612GlyfsTer?)
c.3172dup (p.Ala1058GlyfsTer?)
Xg.108695282delCA2543447048COL4A5c.4837del (p.Ala1613GlnfsTer8)
c.4819del (p.Ala1607GlnfsTer8)
n.1331del
n.1668del
c.219+361del (n.219+361del)
c.325-1015del
c.4828del (p.Ala1610GlnfsTer8)
c.4513del (p.Ala1505GlnfsTer8)
c.2410del (p.Ala804GlnfsTer8)
c.4852del (p.Ala1618GlnfsTer8)
c.4843del (p.Ala1615GlnfsTer8)
c.4834del (p.Ala1612GlnfsTer8)
c.3172del (p.Ala1058GlnfsTer8)
Xg.108695280G>ACA414132667COL4A5c.4835G>A (p.Gly1612Glu)
c.4817G>A (p.Gly1606Glu)
n.1329G>A
n.1666G>A
c.219+359G>A (n.219+359G>A)
c.325-1017G>A
c.4826G>A (p.Gly1609Glu)
c.4511G>A (p.Gly1504Glu)
c.2408G>A (p.Gly803Glu)
c.4850G>A (p.Gly1617Glu)
c.4841G>A (p.Gly1614Glu)
c.4832G>A (p.Gly1611Glu)
c.3170G>A (p.Gly1057Glu)
Xg.108695280G>CCA414132668COL4A5c.4835G>C (p.Gly1612Ala)
c.4817G>C (p.Gly1606Ala)
n.1329G>C
n.1666G>C
c.219+359G>C (n.219+359G>C)
c.325-1017G>C
c.4826G>C (p.Gly1609Ala)
c.4511G>C (p.Gly1504Ala)
c.2408G>C (p.Gly803Ala)
c.4850G>C (p.Gly1617Ala)
c.4841G>C (p.Gly1614Ala)
c.4832G>C (p.Gly1611Ala)
c.3170G>C (p.Gly1057Ala)
 COSMIC COSMIC
Xg.108695280G>TCA414132669COL4A5c.4835G>T (p.Gly1612Val)
c.4817G>T (p.Gly1606Val)
n.1329G>T
n.1666G>T
c.219+359G>T (n.219+359G>T)
c.325-1017G>T
c.4826G>T (p.Gly1609Val)
c.4511G>T (p.Gly1504Val)
c.2408G>T (p.Gly803Val)
c.4850G>T (p.Gly1617Val)
c.4841G>T (p.Gly1614Val)
c.4832G>T (p.Gly1611Val)
c.3170G>T (p.Gly1057Val)
Xg.108695281G>ACA517926061COL4A5c.4836G>A (p.Gly1612=)
c.4818G>A (p.Gly1606=)
n.1330G>A
n.1667G>A
c.219+360G>A (n.219+360G>A)
c.325-1016G>A
c.4827G>A (p.Gly1609=)
c.4512G>A (p.Gly1504=)
c.2409G>A (p.Gly803=)
c.4851G>A (p.Gly1617=)
c.4842G>A (p.Gly1614=)
c.4833G>A (p.Gly1611=)
c.3171G>A (p.Gly1057=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108695281G>CCA517926062COL4A5c.4836G>C (p.Gly1612=)
c.4818G>C (p.Gly1606=)
n.1330G>C
n.1667G>C
c.219+360G>C (n.219+360G>C)
c.325-1016G>C
c.4827G>C (p.Gly1609=)
c.4512G>C (p.Gly1504=)
c.2409G>C (p.Gly803=)
c.4851G>C (p.Gly1617=)
c.4842G>C (p.Gly1614=)
c.4833G>C (p.Gly1611=)
c.3171G>C (p.Gly1057=)
Xg.108695281G>TCA517926063COL4A5c.4836G>T (p.Gly1612=)
c.4818G>T (p.Gly1606=)
n.1330G>T
n.1667G>T
c.219+360G>T (n.219+360G>T)
c.325-1016G>T
c.4827G>T (p.Gly1609=)
c.4512G>T (p.Gly1504=)
c.2409G>T (p.Gly803=)
c.4851G>T (p.Gly1617=)
c.4842G>T (p.Gly1614=)
c.4833G>T (p.Gly1611=)
c.3171G>T (p.Gly1057=)
Xg.108695282G>ACA414132670COL4A5c.4837G>A (p.Ala1613Thr)
c.4819G>A (p.Ala1607Thr)
n.1331G>A
n.1668G>A
c.219+361G>A (n.219+361G>A)
c.325-1015G>A
c.4828G>A (p.Ala1610Thr)
c.4513G>A (p.Ala1505Thr)
c.2410G>A (p.Ala804Thr)
c.4852G>A (p.Ala1618Thr)
c.4843G>A (p.Ala1615Thr)
c.4834G>A (p.Ala1612Thr)
c.3172G>A (p.Ala1058Thr)
 gnomAD v4 COSMIC COSMIC
Xg.108695282G>CCA414132671COL4A5c.4837G>C (p.Ala1613Pro)
c.4819G>C (p.Ala1607Pro)
n.1331G>C
n.1668G>C
c.219+361G>C (n.219+361G>C)
c.325-1015G>C
c.4828G>C (p.Ala1610Pro)
c.4513G>C (p.Ala1505Pro)
c.2410G>C (p.Ala804Pro)
c.4852G>C (p.Ala1618Pro)
c.4843G>C (p.Ala1615Pro)
c.4834G>C (p.Ala1612Pro)
c.3172G>C (p.Ala1058Pro)
Xg.108695282G>TCA414132672COL4A5c.4837G>T (p.Ala1613Ser)
c.4819G>T (p.Ala1607Ser)
n.1331G>T
n.1668G>T
c.219+361G>T (n.219+361G>T)
c.325-1015G>T
c.4828G>T (p.Ala1610Ser)
c.4513G>T (p.Ala1505Ser)
c.2410G>T (p.Ala804Ser)
c.4852G>T (p.Ala1618Ser)
c.4843G>T (p.Ala1615Ser)
c.4834G>T (p.Ala1612Ser)
c.3172G>T (p.Ala1058Ser)
Xg.108695283C>ACA414132673COL4A5c.4838C>A (p.Ala1613Glu)
c.4820C>A (p.Ala1607Glu)
n.1332C>A
n.1669C>A
c.219+362C>A (n.219+362C>A)
c.325-1014C>A
c.4829C>A (p.Ala1610Glu)
c.4514C>A (p.Ala1505Glu)
c.2411C>A (p.Ala804Glu)
c.4853C>A (p.Ala1618Glu)
c.4844C>A (p.Ala1615Glu)
c.4835C>A (p.Ala1612Glu)
c.3173C>A (p.Ala1058Glu)
 gnomAD v4
Xg.108695283C>GCA414132674COL4A5c.4838C>G (p.Ala1613Gly)
c.4820C>G (p.Ala1607Gly)
n.1332C>G
n.1669C>G
c.219+362C>G (n.219+362C>G)
c.325-1014C>G
c.4829C>G (p.Ala1610Gly)
c.4514C>G (p.Ala1505Gly)
c.2411C>G (p.Ala804Gly)
c.4853C>G (p.Ala1618Gly)
c.4844C>G (p.Ala1615Gly)
c.4835C>G (p.Ala1612Gly)
c.3173C>G (p.Ala1058Gly)
Xg.108695283C>TCA414132675COL4A5c.4838C>T (p.Ala1613Val)
c.4820C>T (p.Ala1607Val)
n.1332C>T
n.1669C>T
c.219+362C>T (n.219+362C>T)
c.325-1014C>T
c.4829C>T (p.Ala1610Val)
c.4514C>T (p.Ala1505Val)
c.2411C>T (p.Ala804Val)
c.4853C>T (p.Ala1618Val)
c.4844C>T (p.Ala1615Val)
c.4835C>T (p.Ala1612Val)
c.3173C>T (p.Ala1058Val)
Xg.108695284A=CA2450721728COL4A5c.4839A= (p.Ala1613=)
c.4821A= (p.Ala1607=)
n.1333A=
n.1670A=
c.219+363A= (n.219+363A=)
c.325-1013A=
c.4830A= (p.Ala1610=)
c.4515A= (p.Ala1505=)
c.2412A= (p.Ala804=)
c.4854A= (p.Ala1618=)
c.4845A= (p.Ala1615=)
c.4836A= (p.Ala1612=)
c.3174A= (p.Ala1058=)
Xg.108695284A>CCA517926064COL4A5c.4839A>C (p.Ala1613=)
c.4821A>C (p.Ala1607=)
n.1333A>C
n.1670A>C
c.219+363A>C (n.219+363A>C)
c.325-1013A>C
c.4830A>C (p.Ala1610=)
c.4515A>C (p.Ala1505=)
c.2412A>C (p.Ala804=)
c.4854A>C (p.Ala1618=)
c.4845A>C (p.Ala1615=)
c.4836A>C (p.Ala1612=)
c.3174A>C (p.Ala1058=)
Xg.108695284A>GCA517926065COL4A5c.4839A>G (p.Ala1613=)
c.4821A>G (p.Ala1607=)
n.1333A>G
n.1670A>G
c.219+363A>G (n.219+363A>G)
c.325-1013A>G
c.4830A>G (p.Ala1610=)
c.4515A>G (p.Ala1505=)
c.2412A>G (p.Ala804=)
c.4854A>G (p.Ala1618=)
c.4845A>G (p.Ala1615=)
c.4836A>G (p.Ala1612=)
c.3174A>G (p.Ala1058=)
 ClinVar dbSNP
Xg.108695284A>TCA517926066COL4A5c.4839A>T (p.Ala1613=)
c.4821A>T (p.Ala1607=)
n.1333A>T
n.1670A>T
c.219+363A>T (n.219+363A>T)
c.325-1013A>T
c.4830A>T (p.Ala1610=)
c.4515A>T (p.Ala1505=)
c.2412A>T (p.Ala804=)
c.4854A>T (p.Ala1618=)
c.4845A>T (p.Ala1615=)
c.4836A>T (p.Ala1612=)
c.3174A>T (p.Ala1058=)
Xg.108695285G>ACA414132676COL4A5c.4840G>A (p.Glu1614Lys)
c.4822G>A (p.Glu1608Lys)
n.1334G>A
n.1671G>A
c.219+364G>A (n.219+364G>A)
c.325-1012G>A
c.4831G>A (p.Glu1611Lys)
c.4516G>A (p.Glu1506Lys)
c.2413G>A (p.Glu805Lys)
c.4855G>A (p.Glu1619Lys)
c.4846G>A (p.Glu1616Lys)
c.4837G>A (p.Glu1613Lys)
c.3175G>A (p.Glu1059Lys)
Xg.108695285G>CCA414132677COL4A5c.4840G>C (p.Glu1614Gln)
c.4822G>C (p.Glu1608Gln)
n.1334G>C
n.1671G>C
c.219+364G>C (n.219+364G>C)
c.325-1012G>C
c.4831G>C (p.Glu1611Gln)
c.4516G>C (p.Glu1506Gln)
c.2413G>C (p.Glu805Gln)
c.4855G>C (p.Glu1619Gln)
c.4846G>C (p.Glu1616Gln)
c.4837G>C (p.Glu1613Gln)
c.3175G>C (p.Glu1059Gln)
Xg.108695285G>TCA414132678COL4A5c.4840G>T (p.Glu1614Ter)
c.4822G>T (p.Glu1608Ter)
n.1334G>T
n.1671G>T
c.219+364G>T (n.219+364G>T)
c.325-1012G>T
c.4831G>T (p.Glu1611Ter)
c.4516G>T (p.Glu1506Ter)
c.2413G>T (p.Glu805Ter)
c.4855G>T (p.Glu1619Ter)
c.4846G>T (p.Glu1616Ter)
c.4837G>T (p.Glu1613Ter)
c.3175G>T (p.Glu1059Ter)
Xg.108695286A>CCA414132681COL4A5c.4841A>C (p.Glu1614Ala)
c.4823A>C (p.Glu1608Ala)
n.1335A>C
n.1672A>C
c.219+365A>C (n.219+365A>C)
c.325-1011A>C
c.4832A>C (p.Glu1611Ala)
c.4517A>C (p.Glu1506Ala)
c.2414A>C (p.Glu805Ala)
c.4856A>C (p.Glu1619Ala)
c.4847A>C (p.Glu1616Ala)
c.4838A>C (p.Glu1613Ala)
c.3176A>C (p.Glu1059Ala)
Xg.108695286A>GCA414132679COL4A5c.4841A>G (p.Glu1614Gly)
c.4823A>G (p.Glu1608Gly)
n.1335A>G
n.1672A>G
c.219+365A>G (n.219+365A>G)
c.325-1011A>G
c.4832A>G (p.Glu1611Gly)
c.4517A>G (p.Glu1506Gly)
c.2414A>G (p.Glu805Gly)
c.4856A>G (p.Glu1619Gly)
c.4847A>G (p.Glu1616Gly)
c.4838A>G (p.Glu1613Gly)
c.3176A>G (p.Glu1059Gly)
Xg.108695286A>TCA414132680COL4A5c.4841A>T (p.Glu1614Val)
c.4823A>T (p.Glu1608Val)
n.1335A>T
n.1672A>T
c.219+365A>T (n.219+365A>T)
c.325-1011A>T
c.4832A>T (p.Glu1611Val)
c.4517A>T (p.Glu1506Val)
c.2414A>T (p.Glu805Val)
c.4856A>T (p.Glu1619Val)
c.4847A>T (p.Glu1616Val)
c.4838A>T (p.Glu1613Val)
c.3176A>T (p.Glu1059Val)
Xg.108695287A>CCA414132682COL4A5c.4842A>C (p.Glu1614Asp)
c.4824A>C (p.Glu1608Asp)
n.1336A>C
n.1673A>C
c.219+366A>C (n.219+366A>C)
c.325-1010A>C
c.4833A>C (p.Glu1611Asp)
c.4518A>C (p.Glu1506Asp)
c.2415A>C (p.Glu805Asp)
c.4857A>C (p.Glu1619Asp)
c.4848A>C (p.Glu1616Asp)
c.4839A>C (p.Glu1613Asp)
c.3177A>C (p.Glu1059Asp)
 gnomAD v3 gnomAD v4
Xg.108695287A>GCA517926067COL4A5c.4842A>G (p.Glu1614=)
c.4824A>G (p.Glu1608=)
n.1336A>G
n.1673A>G
c.219+366A>G (n.219+366A>G)
c.325-1010A>G
c.4833A>G (p.Glu1611=)
c.4518A>G (p.Glu1506=)
c.2415A>G (p.Glu805=)
c.4857A>G (p.Glu1619=)
c.4848A>G (p.Glu1616=)
c.4839A>G (p.Glu1613=)
c.3177A>G (p.Glu1059=)
Xg.108695287A>TCA414132683COL4A5c.4842A>T (p.Glu1614Asp)
c.4824A>T (p.Glu1608Asp)
n.1336A>T
n.1673A>T
c.219+366A>T (n.219+366A>T)
c.325-1010A>T
c.4833A>T (p.Glu1611Asp)
c.4518A>T (p.Glu1506Asp)
c.2415A>T (p.Glu805Asp)
c.4857A>T (p.Glu1619Asp)
c.4848A>T (p.Glu1616Asp)
c.4839A>T (p.Glu1613Asp)
c.3177A>T (p.Glu1059Asp)
Xg.108695288G>ACA414132684COL4A5c.4843G>A (p.Gly1615Ser)
c.4825G>A (p.Gly1609Ser)
n.1337G>A
n.1674G>A
c.219+367G>A (n.219+367G>A)
c.325-1009G>A
c.4834G>A (p.Gly1612Ser)
c.4519G>A (p.Gly1507Ser)
c.2416G>A (p.Gly806Ser)
c.4858G>A (p.Gly1620Ser)
c.4849G>A (p.Gly1617Ser)
c.4840G>A (p.Gly1614Ser)
c.3178G>A (p.Gly1060Ser)
Xg.108695288G>CCA414132685COL4A5c.4843G>C (p.Gly1615Arg)
c.4825G>C (p.Gly1609Arg)
n.1337G>C
n.1674G>C
c.219+367G>C (n.219+367G>C)
c.325-1009G>C
c.4834G>C (p.Gly1612Arg)
c.4519G>C (p.Gly1507Arg)
c.2416G>C (p.Gly806Arg)
c.4858G>C (p.Gly1620Arg)
c.4849G>C (p.Gly1617Arg)
c.4840G>C (p.Gly1614Arg)
c.3178G>C (p.Gly1060Arg)
Xg.108695288G>TCA414132686COL4A5c.4843G>T (p.Gly1615Cys)
c.4825G>T (p.Gly1609Cys)
n.1337G>T
n.1674G>T
c.219+367G>T (n.219+367G>T)
c.325-1009G>T
c.4834G>T (p.Gly1612Cys)
c.4519G>T (p.Gly1507Cys)
c.2416G>T (p.Gly806Cys)
c.4858G>T (p.Gly1620Cys)
c.4849G>T (p.Gly1617Cys)
c.4840G>T (p.Gly1614Cys)
c.3178G>T (p.Gly1060Cys)
Xg.108695289G>ACA414132687COL4A5c.4844G>A (p.Gly1615Asp)
c.4826G>A (p.Gly1609Asp)
n.1338G>A
n.1675G>A
c.219+368G>A (n.219+368G>A)
c.325-1008G>A
c.4835G>A (p.Gly1612Asp)
c.4520G>A (p.Gly1507Asp)
c.2417G>A (p.Gly806Asp)
c.4859G>A (p.Gly1620Asp)
c.4850G>A (p.Gly1617Asp)
c.4841G>A (p.Gly1614Asp)
c.3179G>A (p.Gly1060Asp)
Xg.108695289G>CCA414132688COL4A5c.4844G>C (p.Gly1615Ala)
c.4826G>C (p.Gly1609Ala)
n.1338G>C
n.1675G>C
c.219+368G>C (n.219+368G>C)
c.325-1008G>C
c.4835G>C (p.Gly1612Ala)
c.4520G>C (p.Gly1507Ala)
c.2417G>C (p.Gly806Ala)
c.4859G>C (p.Gly1620Ala)
c.4850G>C (p.Gly1617Ala)
c.4841G>C (p.Gly1614Ala)
c.3179G>C (p.Gly1060Ala)
Xg.108695289G>TCA414132689COL4A5c.4844G>T (p.Gly1615Val)
c.4826G>T (p.Gly1609Val)
n.1338G>T
n.1675G>T
c.219+368G>T (n.219+368G>T)
c.325-1008G>T
c.4835G>T (p.Gly1612Val)
c.4520G>T (p.Gly1507Val)
c.2417G>T (p.Gly806Val)
c.4859G>T (p.Gly1620Val)
c.4850G>T (p.Gly1617Val)
c.4841G>T (p.Gly1614Val)
c.3179G>T (p.Gly1060Val)
Xg.108695290C>ACA517926070COL4A5c.4845C>A (p.Gly1615=)
c.4827C>A (p.Gly1609=)
n.1339C>A
n.1676C>A
c.219+369C>A (n.219+369C>A)
c.325-1007C>A
c.4836C>A (p.Gly1612=)
c.4521C>A (p.Gly1507=)
c.2418C>A (p.Gly806=)
c.4860C>A (p.Gly1620=)
c.4851C>A (p.Gly1617=)
c.4842C>A (p.Gly1614=)
c.3180C>A (p.Gly1060=)
Xg.108695290C=CA2450721729COL4A5c.4845C= (p.Gly1615=)
c.4827C= (p.Gly1609=)
n.1339C=
n.1676C=
c.219+369C= (n.219+369C=)
c.325-1007C=
c.4836C= (p.Gly1612=)
c.4521C= (p.Gly1507=)
c.2418C= (p.Gly806=)
c.4860C= (p.Gly1620=)
c.4851C= (p.Gly1617=)
c.4842C= (p.Gly1614=)
c.3180C= (p.Gly1060=)
Xg.108695290C>GCA517926069COL4A5c.4845C>G (p.Gly1615=)
c.4827C>G (p.Gly1609=)
n.1339C>G
n.1676C>G
c.219+369C>G (n.219+369C>G)
c.325-1007C>G
c.4836C>G (p.Gly1612=)
c.4521C>G (p.Gly1507=)
c.2418C>G (p.Gly806=)
c.4860C>G (p.Gly1620=)
c.4851C>G (p.Gly1617=)
c.4842C>G (p.Gly1614=)
c.3180C>G (p.Gly1060=)
Xg.108695290C>TCA517926068COL4A5c.4845C>T (p.Gly1615=)
c.4827C>T (p.Gly1609=)
n.1339C>T
n.1676C>T
c.219+369C>T (n.219+369C>T)
c.325-1007C>T
c.4836C>T (p.Gly1612=)
c.4521C>T (p.Gly1507=)
c.2418C>T (p.Gly806=)
c.4860C>T (p.Gly1620=)
c.4851C>T (p.Gly1617=)
c.4842C>T (p.Gly1614=)
c.3180C>T (p.Gly1060=)
 ClinVar dbSNP
Xg.108695291T>ACA414132690COL4A5c.4846T>A (p.Ser1616Thr)
c.4828T>A (p.Ser1610Thr)
n.1340T>A
n.1677T>A
c.219+370T>A (n.219+370T>A)
c.325-1006T>A
c.4837T>A (p.Ser1613Thr)
c.4522T>A (p.Ser1508Thr)
c.2419T>A (p.Ser807Thr)
c.4861T>A (p.Ser1621Thr)
c.4852T>A (p.Ser1618Thr)
c.4843T>A (p.Ser1615Thr)
c.3181T>A (p.Ser1061Thr)
Xg.108695291T>CCA334063250COL4A5c.4846T>C (p.Ser1616Pro)
c.4828T>C (p.Ser1610Pro)
n.1340T>C
n.1677T>C
c.219+370T>C (n.219+370T>C)
c.325-1006T>C
c.4837T>C (p.Ser1613Pro)
c.4522T>C (p.Ser1508Pro)
c.2419T>C (p.Ser807Pro)
c.4861T>C (p.Ser1621Pro)
c.4852T>C (p.Ser1618Pro)
c.4843T>C (p.Ser1615Pro)
c.3181T>C (p.Ser1061Pro)
 dbSNP
Xg.108695291T>GCA414132691COL4A5c.4846T>G (p.Ser1616Ala)
c.4828T>G (p.Ser1610Ala)
n.1340T>G
n.1677T>G
c.219+370T>G (n.219+370T>G)
c.325-1006T>G
c.4837T>G (p.Ser1613Ala)
c.4522T>G (p.Ser1508Ala)
c.2419T>G (p.Ser807Ala)
c.4861T>G (p.Ser1621Ala)
c.4852T>G (p.Ser1618Ala)
c.4843T>G (p.Ser1615Ala)
c.3181T>G (p.Ser1061Ala)
Xg.108695291T=CA2450721730COL4A5c.4846T= (p.Ser1616=)
c.4828T= (p.Ser1610=)
n.1340T=
n.1677T=
c.219+370T= (n.219+370T=)
c.325-1006T=
c.4837T= (p.Ser1613=)
c.4522T= (p.Ser1508=)
c.2419T= (p.Ser807=)
c.4861T= (p.Ser1621=)
c.4852T= (p.Ser1618=)
c.4843T= (p.Ser1615=)
c.3181T= (p.Ser1061=)
Xg.108695292delCA2579677323COL4A5c.4847del (p.Ser1616Ter)
c.4829del (p.Ser1610Ter)
n.1341del
n.1678del
c.219+371del (n.219+371del)
c.325-1005del
c.4838del (p.Ser1613Ter)
c.4523del (p.Ser1508Ter)
c.2420del (p.Ser807Ter)
c.4862del (p.Ser1621Ter)
c.4853del (p.Ser1618Ter)
c.4844del (p.Ser1615Ter)
c.3182del (p.Ser1061Ter)
Xg.108695292C>ACA414132693COL4A5c.4847C>A (p.Ser1616Ter)
c.4829C>A (p.Ser1610Ter)
n.1341C>A
n.1678C>A
c.219+371C>A (n.219+371C>A)
c.325-1005C>A
c.4838C>A (p.Ser1613Ter)
c.4523C>A (p.Ser1508Ter)
c.2420C>A (p.Ser807Ter)
c.4862C>A (p.Ser1621Ter)
c.4853C>A (p.Ser1618Ter)
c.4844C>A (p.Ser1615Ter)
c.3182C>A (p.Ser1061Ter)
 ClinVar dbSNP
Xg.108695292C=CA2450721731COL4A5c.4847C= (p.Ser1616=)
c.4829C= (p.Ser1610=)
n.1341C=
n.1678C=
c.219+371C= (n.219+371C=)
c.325-1005C=
c.4838C= (p.Ser1613=)
c.4523C= (p.Ser1508=)
c.2420C= (p.Ser807=)
c.4862C= (p.Ser1621=)
c.4853C= (p.Ser1618=)
c.4844C= (p.Ser1615=)
c.3182C= (p.Ser1061=)
Xg.108695292C>GCA414132692COL4A5c.4847C>G (p.Ser1616Ter)
c.4829C>G (p.Ser1610Ter)
n.1341C>G
n.1678C>G
c.219+371C>G (n.219+371C>G)
c.325-1005C>G
c.4838C>G (p.Ser1613Ter)
c.4523C>G (p.Ser1508Ter)
c.2420C>G (p.Ser807Ter)
c.4862C>G (p.Ser1621Ter)
c.4853C>G (p.Ser1618Ter)
c.4844C>G (p.Ser1615Ter)
c.3182C>G (p.Ser1061Ter)
 ClinVar
Xg.108695292C>TCA10489438COL4A5c.4847C>T (p.Ser1616Leu)
c.4829C>T (p.Ser1610Leu)
n.1341C>T
n.1678C>T
c.219+371C>T (n.219+371C>T)
c.325-1005C>T
c.4838C>T (p.Ser1613Leu)
c.4523C>T (p.Ser1508Leu)
c.2420C>T (p.Ser807Leu)
c.4862C>T (p.Ser1621Leu)
c.4853C>T (p.Ser1618Leu)
c.4844C>T (p.Ser1615Leu)
c.3182C>T (p.Ser1061Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695293A=CA2450721733COL4A5c.4848A= (p.Ser1616=)
c.4830A= (p.Ser1610=)
n.1342A=
n.1679A=
c.219+372A= (n.219+372A=)
c.325-1004A=
c.4839A= (p.Ser1613=)
c.4524A= (p.Ser1508=)
c.2421A= (p.Ser807=)
c.4863A= (p.Ser1621=)
c.4854A= (p.Ser1618=)
c.4845A= (p.Ser1615=)
c.3183A= (p.Ser1061=)
Xg.108695293A>CCA517926071COL4A5c.4848A>C (p.Ser1616=)
c.4830A>C (p.Ser1610=)
n.1342A>C
n.1679A>C
c.219+372A>C (n.219+372A>C)
c.325-1004A>C
c.4839A>C (p.Ser1613=)
c.4524A>C (p.Ser1508=)
c.2421A>C (p.Ser807=)
c.4863A>C (p.Ser1621=)
c.4854A>C (p.Ser1618=)
c.4845A>C (p.Ser1615=)
c.3183A>C (p.Ser1061=)
Xg.108695293A>GCA517926072COL4A5c.4848A>G (p.Ser1616=)
c.4830A>G (p.Ser1610=)
n.1342A>G
n.1679A>G
c.219+372A>G (n.219+372A>G)
c.325-1004A>G
c.4839A>G (p.Ser1613=)
c.4524A>G (p.Ser1508=)
c.2421A>G (p.Ser807=)
c.4863A>G (p.Ser1621=)
c.4854A>G (p.Ser1618=)
c.4845A>G (p.Ser1615=)
c.3183A>G (p.Ser1061=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695293A>TCA517926073COL4A5c.4848A>T (p.Ser1616=)
c.4830A>T (p.Ser1610=)
n.1342A>T
n.1679A>T
c.219+372A>T (n.219+372A>T)
c.325-1004A>T
c.4839A>T (p.Ser1613=)
c.4524A>T (p.Ser1508=)
c.2421A>T (p.Ser807=)
c.4863A>T (p.Ser1621=)
c.4854A>T (p.Ser1618=)
c.4845A>T (p.Ser1615=)
c.3183A>T (p.Ser1061=)
Xg.108695293_108695294delinsAGCA2450721732COL4A5c.4848_4849delinsAG (p.Ser1616=)
c.4830_4831delinsAG (p.Ser1610=)
n.1342_1343delinsAG
n.1679_1680delinsAG
c.219+372_219+373delinsAG (n.219+372_219+373delinsAG)
c.325-1004_325-1003delinsAG
c.4839_4840delinsAG (p.Ser1613=)
c.4524_4525delinsAG (p.Ser1508=)
c.2421_2422delinsAG (p.Ser807=)
c.4863_4864delinsAG (p.Ser1621=)
c.4854_4855delinsAG (p.Ser1618=)
c.4845_4846delinsAG (p.Ser1615=)
c.3183_3184delinsAG (p.Ser1061=)
Xg.108695294G>ACA414132694COL4A5c.4849G>A (p.Gly1617Ser)
c.4831G>A (p.Gly1611Ser)
n.1343G>A
n.1680G>A
c.219+373G>A (n.219+373G>A)
c.325-1003G>A
c.4840G>A (p.Gly1614Ser)
c.4525G>A (p.Gly1509Ser)
c.2422G>A (p.Gly808Ser)
c.4864G>A (p.Gly1622Ser)
c.4855G>A (p.Gly1619Ser)
c.4846G>A (p.Gly1616Ser)
c.3184G>A (p.Gly1062Ser)
Xg.108695294G>CCA414132695COL4A5c.4849G>C (p.Gly1617Arg)
c.4831G>C (p.Gly1611Arg)
n.1343G>C
n.1680G>C
c.219+373G>C (n.219+373G>C)
c.325-1003G>C
c.4840G>C (p.Gly1614Arg)
c.4525G>C (p.Gly1509Arg)
c.2422G>C (p.Gly808Arg)
c.4864G>C (p.Gly1622Arg)
c.4855G>C (p.Gly1619Arg)
c.4846G>C (p.Gly1616Arg)
c.3184G>C (p.Gly1062Arg)
Xg.108695294G>TCA414132696COL4A5c.4849G>T (p.Gly1617Cys)
c.4831G>T (p.Gly1611Cys)
n.1343G>T
n.1680G>T
c.219+373G>T (n.219+373G>T)
c.325-1003G>T
c.4840G>T (p.Gly1614Cys)
c.4525G>T (p.Gly1509Cys)
c.2422G>T (p.Gly808Cys)
c.4864G>T (p.Gly1622Cys)
c.4855G>T (p.Gly1619Cys)
c.4846G>T (p.Gly1616Cys)
c.3184G>T (p.Gly1062Cys)
Xg.108695295delCA259129COL4A5c.4850del (p.Gly1617ValfsTer4)
c.4832del (p.Gly1611ValfsTer4)
n.1344del
n.1681del
c.219+374del (n.219+374del)
c.325-1002del
c.4841del (p.Gly1614ValfsTer4)
c.4526del (p.Gly1509ValfsTer4)
c.2423del (p.Gly808ValfsTer4)
c.4865del (p.Gly1622ValfsTer4)
c.4856del (p.Gly1619ValfsTer4)
c.4847del (p.Gly1616ValfsTer4)
c.3185del (p.Gly1062ValfsTer4)
 dbSNP
Xg.108695295G>ACA414132697COL4A5c.4850G>A (p.Gly1617Asp)
c.4832G>A (p.Gly1611Asp)
n.1344G>A
n.1681G>A
c.219+374G>A (n.219+374G>A)
c.325-1002G>A
c.4841G>A (p.Gly1614Asp)
c.4526G>A (p.Gly1509Asp)
c.2423G>A (p.Gly808Asp)
c.4865G>A (p.Gly1622Asp)
c.4856G>A (p.Gly1619Asp)
c.4847G>A (p.Gly1616Asp)
c.3185G>A (p.Gly1062Asp)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695295G>CCA414132698COL4A5c.4850G>C (p.Gly1617Ala)
c.4832G>C (p.Gly1611Ala)
n.1344G>C
n.1681G>C
c.219+374G>C (n.219+374G>C)
c.325-1002G>C
c.4841G>C (p.Gly1614Ala)
c.4526G>C (p.Gly1509Ala)
c.2423G>C (p.Gly808Ala)
c.4865G>C (p.Gly1622Ala)
c.4856G>C (p.Gly1619Ala)
c.4847G>C (p.Gly1616Ala)
c.3185G>C (p.Gly1062Ala)
Xg.108695295G=CA2450721734COL4A5c.4850G= (p.Gly1617=)
c.4832G= (p.Gly1611=)
n.1344G=
n.1681G=
c.219+374G= (n.219+374G=)
c.325-1002G=
c.4841G= (p.Gly1614=)
c.4526G= (p.Gly1509=)
c.2423G= (p.Gly808=)
c.4865G= (p.Gly1622=)
c.4856G= (p.Gly1619=)
c.4847G= (p.Gly1616=)
c.3185G= (p.Gly1062=)
Xg.108695295G>TCA414132699COL4A5c.4850G>T (p.Gly1617Val)
c.4832G>T (p.Gly1611Val)
n.1344G>T
n.1681G>T
c.219+374G>T (n.219+374G>T)
c.325-1002G>T
c.4841G>T (p.Gly1614Val)
c.4526G>T (p.Gly1509Val)
c.2423G>T (p.Gly808Val)
c.4865G>T (p.Gly1622Val)
c.4856G>T (p.Gly1619Val)
c.4847G>T (p.Gly1616Val)
c.3185G>T (p.Gly1062Val)
Xg.108695296T>ACA517926074COL4A5c.4851T>A (p.Gly1617=)
c.4833T>A (p.Gly1611=)
n.1345T>A
n.1682T>A
c.219+375T>A (n.219+375T>A)
c.325-1001T>A
c.4842T>A (p.Gly1614=)
c.4527T>A (p.Gly1509=)
c.2424T>A (p.Gly808=)
c.4866T>A (p.Gly1622=)
c.4857T>A (p.Gly1619=)
c.4848T>A (p.Gly1616=)
c.3186T>A (p.Gly1062=)
Xg.108695296T>CCA517926076COL4A5c.4851T>C (p.Gly1617=)
c.4833T>C (p.Gly1611=)
n.1345T>C
n.1682T>C
c.219+375T>C (n.219+375T>C)
c.325-1001T>C
c.4842T>C (p.Gly1614=)
c.4527T>C (p.Gly1509=)
c.2424T>C (p.Gly808=)
c.4866T>C (p.Gly1622=)
c.4857T>C (p.Gly1619=)
c.4848T>C (p.Gly1616=)
c.3186T>C (p.Gly1062=)
Xg.108695296T>GCA517926075COL4A5c.4851T>G (p.Gly1617=)
c.4833T>G (p.Gly1611=)
n.1345T>G
n.1682T>G
c.219+375T>G (n.219+375T>G)
c.325-1001T>G
c.4842T>G (p.Gly1614=)
c.4527T>G (p.Gly1509=)
c.2424T>G (p.Gly808=)
c.4866T>G (p.Gly1622=)
c.4857T>G (p.Gly1619=)
c.4848T>G (p.Gly1616=)
c.3186T>G (p.Gly1062=)
Xg.108695297C>ACA414132700COL4A5c.4852C>A (p.Gln1618Lys)
c.4834C>A (p.Gln1612Lys)
n.1346C>A
n.1683C>A
c.219+376C>A (n.219+376C>A)
c.325-1000C>A
c.4843C>A (p.Gln1615Lys)
c.4528C>A (p.Gln1510Lys)
c.2425C>A (p.Gln809Lys)
c.4867C>A (p.Gln1623Lys)
c.4858C>A (p.Gln1620Lys)
c.4849C>A (p.Gln1617Lys)
c.3187C>A (p.Gln1063Lys)
 gnomAD v4
Xg.108695297C>GCA414132701COL4A5c.4852C>G (p.Gln1618Glu)
c.4834C>G (p.Gln1612Glu)
n.1346C>G
n.1683C>G
c.219+376C>G (n.219+376C>G)
c.325-1000C>G
c.4843C>G (p.Gln1615Glu)
c.4528C>G (p.Gln1510Glu)
c.2425C>G (p.Gln809Glu)
c.4867C>G (p.Gln1623Glu)
c.4858C>G (p.Gln1620Glu)
c.4849C>G (p.Gln1617Glu)
c.3187C>G (p.Gln1063Glu)
Xg.108695297C>TCA414132702COL4A5c.4852C>T (p.Gln1618Ter)
c.4834C>T (p.Gln1612Ter)
n.1346C>T
n.1683C>T
c.219+376C>T (n.219+376C>T)
c.325-1000C>T
c.4843C>T (p.Gln1615Ter)
c.4528C>T (p.Gln1510Ter)
c.2425C>T (p.Gln809Ter)
c.4867C>T (p.Gln1623Ter)
c.4858C>T (p.Gln1620Ter)
c.4849C>T (p.Gln1617Ter)
c.3187C>T (p.Gln1063Ter)
Xg.108695298A>CCA414132703COL4A5c.4853A>C (p.Gln1618Pro)
c.4835A>C (p.Gln1612Pro)
n.1347A>C
n.1684A>C
c.219+377A>C (n.219+377A>C)
c.325-999A>C
c.4844A>C (p.Gln1615Pro)
c.4529A>C (p.Gln1510Pro)
c.2426A>C (p.Gln809Pro)
c.4868A>C (p.Gln1623Pro)
c.4859A>C (p.Gln1620Pro)
c.4850A>C (p.Gln1617Pro)
c.3188A>C (p.Gln1063Pro)
Xg.108695298A>GCA414132704COL4A5c.4853A>G (p.Gln1618Arg)
c.4835A>G (p.Gln1612Arg)
n.1347A>G
n.1684A>G
c.219+377A>G (n.219+377A>G)
c.325-999A>G
c.4844A>G (p.Gln1615Arg)
c.4529A>G (p.Gln1510Arg)
c.2426A>G (p.Gln809Arg)
c.4868A>G (p.Gln1623Arg)
c.4859A>G (p.Gln1620Arg)
c.4850A>G (p.Gln1617Arg)
c.3188A>G (p.Gln1063Arg)
Xg.108695298A>TCA414132705COL4A5c.4853A>T (p.Gln1618Leu)
c.4835A>T (p.Gln1612Leu)
n.1347A>T
n.1684A>T
c.219+377A>T (n.219+377A>T)
c.325-999A>T
c.4844A>T (p.Gln1615Leu)
c.4529A>T (p.Gln1510Leu)
c.2426A>T (p.Gln809Leu)
c.4868A>T (p.Gln1623Leu)
c.4859A>T (p.Gln1620Leu)
c.4850A>T (p.Gln1617Leu)
c.3188A>T (p.Gln1063Leu)
Xg.108695299A>CCA414132707COL4A5c.4854A>C (p.Gln1618His)
c.4836A>C (p.Gln1612His)
n.1348A>C
n.1685A>C
c.219+378A>C (n.219+378A>C)
c.325-998A>C
c.4845A>C (p.Gln1615His)
c.4530A>C (p.Gln1510His)
c.2427A>C (p.Gln809His)
c.4869A>C (p.Gln1623His)
c.4860A>C (p.Gln1620His)
c.4851A>C (p.Gln1617His)
c.3189A>C (p.Gln1063His)
Xg.108695299A>GCA517926077COL4A5c.4854A>G (p.Gln1618=)
c.4836A>G (p.Gln1612=)
n.1348A>G
n.1685A>G
c.219+378A>G (n.219+378A>G)
c.325-998A>G
c.4845A>G (p.Gln1615=)
c.4530A>G (p.Gln1510=)
c.2427A>G (p.Gln809=)
c.4869A>G (p.Gln1623=)
c.4860A>G (p.Gln1620=)
c.4851A>G (p.Gln1617=)
c.3189A>G (p.Gln1063=)
Xg.108695299A>TCA414132706COL4A5c.4854A>T (p.Gln1618His)
c.4836A>T (p.Gln1612His)
n.1348A>T
n.1685A>T
c.219+378A>T (n.219+378A>T)
c.325-998A>T
c.4845A>T (p.Gln1615His)
c.4530A>T (p.Gln1510His)
c.2427A>T (p.Gln809His)
c.4869A>T (p.Gln1623His)
c.4860A>T (p.Gln1620His)
c.4851A>T (p.Gln1617His)
c.3189A>T (p.Gln1063His)
Xg.108695300G>ACA414132708COL4A5c.4855G>A (p.Ala1619Thr)
c.4837G>A (p.Ala1613Thr)
n.1349G>A
n.1686G>A
c.219+379G>A (n.219+379G>A)
c.325-997G>A
c.4846G>A (p.Ala1616Thr)
c.4531G>A (p.Ala1511Thr)
c.2428G>A (p.Ala810Thr)
c.4870G>A (p.Ala1624Thr)
c.4861G>A (p.Ala1621Thr)
c.4852G>A (p.Ala1618Thr)
c.3190G>A (p.Ala1064Thr)
Xg.108695300G>CCA414132709COL4A5c.4855G>C (p.Ala1619Pro)
c.4837G>C (p.Ala1613Pro)
n.1349G>C
n.1686G>C
c.219+379G>C (n.219+379G>C)
c.325-997G>C
c.4846G>C (p.Ala1616Pro)
c.4531G>C (p.Ala1511Pro)
c.2428G>C (p.Ala810Pro)
c.4870G>C (p.Ala1624Pro)
c.4861G>C (p.Ala1621Pro)
c.4852G>C (p.Ala1618Pro)
c.3190G>C (p.Ala1064Pro)
Xg.108695300G>TCA414132710COL4A5c.4855G>T (p.Ala1619Ser)
c.4837G>T (p.Ala1613Ser)
n.1349G>T
n.1686G>T
c.219+379G>T (n.219+379G>T)
c.325-997G>T
c.4846G>T (p.Ala1616Ser)
c.4531G>T (p.Ala1511Ser)
c.2428G>T (p.Ala810Ser)
c.4870G>T (p.Ala1624Ser)
c.4861G>T (p.Ala1621Ser)
c.4852G>T (p.Ala1618Ser)
c.3190G>T (p.Ala1064Ser)
 COSMIC COSMIC
Xg.108695301C>ACA414132711COL4A5c.4856C>A (p.Ala1619Asp)
c.4838C>A (p.Ala1613Asp)
n.1350C>A
n.1687C>A
c.219+380C>A (n.219+380C>A)
c.325-996C>A
c.4847C>A (p.Ala1616Asp)
c.4532C>A (p.Ala1511Asp)
c.2429C>A (p.Ala810Asp)
c.4871C>A (p.Ala1624Asp)
c.4862C>A (p.Ala1621Asp)
c.4853C>A (p.Ala1618Asp)
c.3191C>A (p.Ala1064Asp)
Xg.108695301C>GCA414132712COL4A5c.4856C>G (p.Ala1619Gly)
c.4838C>G (p.Ala1613Gly)
n.1350C>G
n.1687C>G
c.219+380C>G (n.219+380C>G)
c.325-996C>G
c.4847C>G (p.Ala1616Gly)
c.4532C>G (p.Ala1511Gly)
c.2429C>G (p.Ala810Gly)
c.4871C>G (p.Ala1624Gly)
c.4862C>G (p.Ala1621Gly)
c.4853C>G (p.Ala1618Gly)
c.3191C>G (p.Ala1064Gly)
Xg.108695301C>TCA414132713COL4A5c.4856C>T (p.Ala1619Val)
c.4838C>T (p.Ala1613Val)
n.1350C>T
n.1687C>T
c.219+380C>T (n.219+380C>T)
c.325-996C>T
c.4847C>T (p.Ala1616Val)
c.4532C>T (p.Ala1511Val)
c.2429C>T (p.Ala810Val)
c.4871C>T (p.Ala1624Val)
c.4862C>T (p.Ala1621Val)
c.4853C>T (p.Ala1618Val)
c.3191C>T (p.Ala1064Val)
 ClinVar
Xg.108695302C>ACA517926078COL4A5c.4857C>A (p.Ala1619=)
c.4839C>A (p.Ala1613=)
n.1351C>A
n.1688C>A
c.219+381C>A (n.219+381C>A)
c.325-995C>A
c.4848C>A (p.Ala1616=)
c.4533C>A (p.Ala1511=)
c.2430C>A (p.Ala810=)
c.4872C>A (p.Ala1624=)
c.4863C>A (p.Ala1621=)
c.4854C>A (p.Ala1618=)
c.3192C>A (p.Ala1064=)
Xg.108695302C>GCA517926079COL4A5c.4857C>G (p.Ala1619=)
c.4839C>G (p.Ala1613=)
n.1351C>G
n.1688C>G
c.219+381C>G (n.219+381C>G)
c.325-995C>G
c.4848C>G (p.Ala1616=)
c.4533C>G (p.Ala1511=)
c.2430C>G (p.Ala810=)
c.4872C>G (p.Ala1624=)
c.4863C>G (p.Ala1621=)
c.4854C>G (p.Ala1618=)
c.3192C>G (p.Ala1064=)
Xg.108695302C>TCA517926080COL4A5c.4857C>T (p.Ala1619=)
c.4839C>T (p.Ala1613=)
n.1351C>T
n.1688C>T
c.219+381C>T (n.219+381C>T)
c.325-995C>T
c.4848C>T (p.Ala1616=)
c.4533C>T (p.Ala1511=)
c.2430C>T (p.Ala810=)
c.4872C>T (p.Ala1624=)
c.4863C>T (p.Ala1621=)
c.4854C>T (p.Ala1618=)
c.3192C>T (p.Ala1064=)
 COSMIC COSMIC
Xg.108695303C>ACA414132714COL4A5c.4858C>A (p.Leu1620Ile)
c.4840C>A (p.Leu1614Ile)
n.1352C>A
n.1689C>A
c.219+382C>A (n.219+382C>A)
c.325-994C>A
c.4849C>A (p.Leu1617Ile)
c.4534C>A (p.Leu1512Ile)
c.2431C>A (p.Leu811Ile)
c.4873C>A (p.Leu1625Ile)
c.4864C>A (p.Leu1622Ile)
c.4855C>A (p.Leu1619Ile)
c.3193C>A (p.Leu1065Ile)
Xg.108695303C>GCA414132715COL4A5c.4858C>G (p.Leu1620Val)
c.4840C>G (p.Leu1614Val)
n.1352C>G
n.1689C>G
c.219+382C>G (n.219+382C>G)
c.325-994C>G
c.4849C>G (p.Leu1617Val)
c.4534C>G (p.Leu1512Val)
c.2431C>G (p.Leu811Val)
c.4873C>G (p.Leu1625Val)
c.4864C>G (p.Leu1622Val)
c.4855C>G (p.Leu1619Val)
c.3193C>G (p.Leu1065Val)
Xg.108695303C>TCA517926081COL4A5c.4858C>T (p.Leu1620=)
c.4840C>T (p.Leu1614=)
n.1352C>T
n.1689C>T
c.219+382C>T (n.219+382C>T)
c.325-994C>T
c.4849C>T (p.Leu1617=)
c.4534C>T (p.Leu1512=)
c.2431C>T (p.Leu811=)
c.4873C>T (p.Leu1625=)
c.4864C>T (p.Leu1622=)
c.4855C>T (p.Leu1619=)
c.3193C>T (p.Leu1065=)
Xg.108695304T>ACA414132716COL4A5c.4859T>A (p.Leu1620Gln)
c.4841T>A (p.Leu1614Gln)
n.1353T>A
n.1690T>A
c.219+383T>A (n.219+383T>A)
c.325-993T>A
c.4850T>A (p.Leu1617Gln)
c.4535T>A (p.Leu1512Gln)
c.2432T>A (p.Leu811Gln)
c.4874T>A (p.Leu1625Gln)
c.4865T>A (p.Leu1622Gln)
c.4856T>A (p.Leu1619Gln)
c.3194T>A (p.Leu1065Gln)
Xg.108695304T>CCA414132717COL4A5c.4859T>C (p.Leu1620Pro)
c.4841T>C (p.Leu1614Pro)
n.1353T>C
n.1690T>C
c.219+383T>C (n.219+383T>C)
c.325-993T>C
c.4850T>C (p.Leu1617Pro)
c.4535T>C (p.Leu1512Pro)
c.2432T>C (p.Leu811Pro)
c.4874T>C (p.Leu1625Pro)
c.4865T>C (p.Leu1622Pro)
c.4856T>C (p.Leu1619Pro)
c.3194T>C (p.Leu1065Pro)
Xg.108695304T>GCA414132718COL4A5c.4859T>G (p.Leu1620Arg)
c.4841T>G (p.Leu1614Arg)
n.1353T>G
n.1690T>G
c.219+383T>G (n.219+383T>G)
c.325-993T>G
c.4850T>G (p.Leu1617Arg)
c.4535T>G (p.Leu1512Arg)
c.2432T>G (p.Leu811Arg)
c.4874T>G (p.Leu1625Arg)
c.4865T>G (p.Leu1622Arg)
c.4856T>G (p.Leu1619Arg)
c.3194T>G (p.Leu1065Arg)
Xg.108695305A>CCA517926084COL4A5c.4860A>C (p.Leu1620=)
c.4842A>C (p.Leu1614=)
n.1354A>C
n.1691A>C
c.219+384A>C (n.219+384A>C)
c.325-992A>C
c.4851A>C (p.Leu1617=)
c.4536A>C (p.Leu1512=)
c.2433A>C (p.Leu811=)
c.4875A>C (p.Leu1625=)
c.4866A>C (p.Leu1622=)
c.4857A>C (p.Leu1619=)
c.3195A>C (p.Leu1065=)
Xg.108695305A>GCA517926083COL4A5c.4860A>G (p.Leu1620=)
c.4842A>G (p.Leu1614=)
n.1354A>G
n.1691A>G
c.219+384A>G (n.219+384A>G)
c.325-992A>G
c.4851A>G (p.Leu1617=)
c.4536A>G (p.Leu1512=)
c.2433A>G (p.Leu811=)
c.4875A>G (p.Leu1625=)
c.4866A>G (p.Leu1622=)
c.4857A>G (p.Leu1619=)
c.3195A>G (p.Leu1065=)
Xg.108695305A>TCA517926082COL4A5c.4860A>T (p.Leu1620=)
c.4842A>T (p.Leu1614=)
n.1354A>T
n.1691A>T
c.219+384A>T (n.219+384A>T)
c.325-992A>T
c.4851A>T (p.Leu1617=)
c.4536A>T (p.Leu1512=)
c.2433A>T (p.Leu811=)
c.4875A>T (p.Leu1625=)
c.4866A>T (p.Leu1622=)
c.4857A>T (p.Leu1619=)
c.3195A>T (p.Leu1065=)
Xg.108695306G>ACA414132719COL4A5c.4861G>A (p.Ala1621Thr)
c.4843G>A (p.Ala1615Thr)
n.1355G>A
n.1692G>A
c.219+385G>A (n.219+385G>A)
c.325-991G>A
c.4852G>A (p.Ala1618Thr)
c.4537G>A (p.Ala1513Thr)
c.2434G>A (p.Ala812Thr)
c.4876G>A (p.Ala1626Thr)
c.4867G>A (p.Ala1623Thr)
c.4858G>A (p.Ala1620Thr)
c.3196G>A (p.Ala1066Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108695306G>CCA414132720COL4A5c.4861G>C (p.Ala1621Pro)
c.4843G>C (p.Ala1615Pro)
n.1355G>C
n.1692G>C
c.219+385G>C (n.219+385G>C)
c.325-991G>C
c.4852G>C (p.Ala1618Pro)
c.4537G>C (p.Ala1513Pro)
c.2434G>C (p.Ala812Pro)
c.4876G>C (p.Ala1626Pro)
c.4867G>C (p.Ala1623Pro)
c.4858G>C (p.Ala1620Pro)
c.3196G>C (p.Ala1066Pro)
Xg.108695306G=CA2450721735COL4A5c.4861G= (p.Ala1621=)
c.4843G= (p.Ala1615=)
n.1355G=
n.1692G=
c.219+385G= (n.219+385G=)
c.325-991G=
c.4852G= (p.Ala1618=)
c.4537G= (p.Ala1513=)
c.2434G= (p.Ala812=)
c.4876G= (p.Ala1626=)
c.4867G= (p.Ala1623=)
c.4858G= (p.Ala1620=)
c.3196G= (p.Ala1066=)
Xg.108695306G>TCA414132721COL4A5c.4861G>T (p.Ala1621Ser)
c.4843G>T (p.Ala1615Ser)
n.1355G>T
n.1692G>T
c.219+385G>T (n.219+385G>T)
c.325-991G>T
c.4852G>T (p.Ala1618Ser)
c.4537G>T (p.Ala1513Ser)
c.2434G>T (p.Ala812Ser)
c.4876G>T (p.Ala1626Ser)
c.4867G>T (p.Ala1623Ser)
c.4858G>T (p.Ala1620Ser)
c.3196G>T (p.Ala1066Ser)
Xg.108695307C>ACA414132723COL4A5c.4862C>A (p.Ala1621Asp)
c.4844C>A (p.Ala1615Asp)
n.1356C>A
n.1693C>A
c.219+386C>A (n.219+386C>A)
c.325-990C>A
c.4853C>A (p.Ala1618Asp)
c.4538C>A (p.Ala1513Asp)
c.2435C>A (p.Ala812Asp)
c.4877C>A (p.Ala1626Asp)
c.4868C>A (p.Ala1623Asp)
c.4859C>A (p.Ala1620Asp)
c.3197C>A (p.Ala1066Asp)
Xg.108695307C=CA2450721736COL4A5c.4862C= (p.Ala1621=)
c.4844C= (p.Ala1615=)
n.1356C=
n.1693C=
c.219+386C= (n.219+386C=)
c.325-990C=
c.4853C= (p.Ala1618=)
c.4538C= (p.Ala1513=)
c.2435C= (p.Ala812=)
c.4877C= (p.Ala1626=)
c.4868C= (p.Ala1623=)
c.4859C= (p.Ala1620=)
c.3197C= (p.Ala1066=)
Xg.108695307C>GCA414132722COL4A5c.4862C>G (p.Ala1621Gly)
c.4844C>G (p.Ala1615Gly)
n.1356C>G
n.1693C>G
c.219+386C>G (n.219+386C>G)
c.325-990C>G
c.4853C>G (p.Ala1618Gly)
c.4538C>G (p.Ala1513Gly)
c.2435C>G (p.Ala812Gly)
c.4877C>G (p.Ala1626Gly)
c.4868C>G (p.Ala1623Gly)
c.4859C>G (p.Ala1620Gly)
c.3197C>G (p.Ala1066Gly)
Xg.108695307C>TCA10489439COL4A5c.4862C>T (p.Ala1621Val)
c.4844C>T (p.Ala1615Val)
n.1356C>T
n.1693C>T
c.219+386C>T (n.219+386C>T)
c.325-990C>T
c.4853C>T (p.Ala1618Val)
c.4538C>T (p.Ala1513Val)
c.2435C>T (p.Ala812Val)
c.4877C>T (p.Ala1626Val)
c.4868C>T (p.Ala1623Val)
c.4859C>T (p.Ala1620Val)
c.3197C>T (p.Ala1066Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695308C>ACA517926085COL4A5c.4863C>A (p.Ala1621=)
c.4845C>A (p.Ala1615=)
n.1357C>A
n.1694C>A
c.219+387C>A (n.219+387C>A)
c.325-989C>A
c.4854C>A (p.Ala1618=)
c.4539C>A (p.Ala1513=)
c.2436C>A (p.Ala812=)
c.4878C>A (p.Ala1626=)
c.4869C>A (p.Ala1623=)
c.4860C>A (p.Ala1620=)
c.3198C>A (p.Ala1066=)
Xg.108695308C>GCA517926086COL4A5c.4863C>G (p.Ala1621=)
c.4845C>G (p.Ala1615=)
n.1357C>G
n.1694C>G
c.219+387C>G (n.219+387C>G)
c.325-989C>G
c.4854C>G (p.Ala1618=)
c.4539C>G (p.Ala1513=)
c.2436C>G (p.Ala812=)
c.4878C>G (p.Ala1626=)
c.4869C>G (p.Ala1623=)
c.4860C>G (p.Ala1620=)
c.3198C>G (p.Ala1066=)
Xg.108695308C>TCA517926087COL4A5c.4863C>T (p.Ala1621=)
c.4845C>T (p.Ala1615=)
n.1357C>T
n.1694C>T
c.219+387C>T (n.219+387C>T)
c.325-989C>T
c.4854C>T (p.Ala1618=)
c.4539C>T (p.Ala1513=)
c.2436C>T (p.Ala812=)
c.4878C>T (p.Ala1626=)
c.4869C>T (p.Ala1623=)
c.4860C>T (p.Ala1620=)
c.3198C>T (p.Ala1066=)
Xg.108695309T>ACA414132725COL4A5c.4864T>A (p.Ser1622Thr)
c.4846T>A (p.Ser1616Thr)
n.1358T>A
n.1695T>A
c.219+388T>A (n.219+388T>A)
c.325-988T>A
c.4855T>A (p.Ser1619Thr)
c.4540T>A (p.Ser1514Thr)
c.2437T>A (p.Ser813Thr)
c.4879T>A (p.Ser1627Thr)
c.4870T>A (p.Ser1624Thr)
c.4861T>A (p.Ser1621Thr)
c.3199T>A (p.Ser1067Thr)
Xg.108695309T>CCA414132724COL4A5c.4864T>C (p.Ser1622Pro)
c.4846T>C (p.Ser1616Pro)
n.1358T>C
n.1695T>C
c.219+388T>C (n.219+388T>C)
c.325-988T>C
c.4855T>C (p.Ser1619Pro)
c.4540T>C (p.Ser1514Pro)
c.2437T>C (p.Ser813Pro)
c.4879T>C (p.Ser1627Pro)
c.4870T>C (p.Ser1624Pro)
c.4861T>C (p.Ser1621Pro)
c.3199T>C (p.Ser1067Pro)
Xg.108695309T>GCA414132726COL4A5c.4864T>G (p.Ser1622Ala)
c.4846T>G (p.Ser1616Ala)
n.1358T>G
n.1695T>G
c.219+388T>G (n.219+388T>G)
c.325-988T>G
c.4855T>G (p.Ser1619Ala)
c.4540T>G (p.Ser1514Ala)
c.2437T>G (p.Ser813Ala)
c.4879T>G (p.Ser1627Ala)
c.4870T>G (p.Ser1624Ala)
c.4861T>G (p.Ser1621Ala)
c.3199T>G (p.Ser1067Ala)
Xg.108695310C>ACA414132727COL4A5c.4865C>A (p.Ser1622Tyr)
c.4847C>A (p.Ser1616Tyr)
n.1359C>A
n.1696C>A
c.219+389C>A (n.219+389C>A)
c.325-987C>A
c.4856C>A (p.Ser1619Tyr)
c.4541C>A (p.Ser1514Tyr)
c.2438C>A (p.Ser813Tyr)
c.4880C>A (p.Ser1627Tyr)
c.4871C>A (p.Ser1624Tyr)
c.4862C>A (p.Ser1621Tyr)
c.3200C>A (p.Ser1067Tyr)
Xg.108695310C=CA2450721737COL4A5c.4865C= (p.Ser1622=)
c.4847C= (p.Ser1616=)
n.1359C=
n.1696C=
c.219+389C= (n.219+389C=)
c.325-987C=
c.4856C= (p.Ser1619=)
c.4541C= (p.Ser1514=)
c.2438C= (p.Ser813=)
c.4880C= (p.Ser1627=)
c.4871C= (p.Ser1624=)
c.4862C= (p.Ser1621=)
c.3200C= (p.Ser1067=)
Xg.108695310C>GCA414132728COL4A5c.4865C>G (p.Ser1622Cys)
c.4847C>G (p.Ser1616Cys)
n.1359C>G
n.1696C>G
c.219+389C>G (n.219+389C>G)
c.325-987C>G
c.4856C>G (p.Ser1619Cys)
c.4541C>G (p.Ser1514Cys)
c.2438C>G (p.Ser813Cys)
c.4880C>G (p.Ser1627Cys)
c.4871C>G (p.Ser1624Cys)
c.4862C>G (p.Ser1621Cys)
c.3200C>G (p.Ser1067Cys)
Xg.108695310C>TCA10489440COL4A5c.4865C>T (p.Ser1622Phe)
c.4847C>T (p.Ser1616Phe)
n.1359C>T
n.1696C>T
c.219+389C>T (n.219+389C>T)
c.325-987C>T
c.4856C>T (p.Ser1619Phe)
c.4541C>T (p.Ser1514Phe)
c.2438C>T (p.Ser813Phe)
c.4880C>T (p.Ser1627Phe)
c.4871C>T (p.Ser1624Phe)
c.4862C>T (p.Ser1621Phe)
c.3200C>T (p.Ser1067Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695311C>ACA517926088COL4A5c.4866C>A (p.Ser1622=)
c.4848C>A (p.Ser1616=)
n.1360C>A
n.1697C>A
c.219+390C>A (n.219+390C>A)
c.325-986C>A
c.4857C>A (p.Ser1619=)
c.4542C>A (p.Ser1514=)
c.2439C>A (p.Ser813=)
c.4881C>A (p.Ser1627=)
c.4872C>A (p.Ser1624=)
c.4863C>A (p.Ser1621=)
c.3201C>A (p.Ser1067=)
Xg.108695311C=CA2450721738COL4A5c.4866C= (p.Ser1622=)
c.4848C= (p.Ser1616=)
n.1360C=
n.1697C=
c.219+390C= (n.219+390C=)
c.325-986C=
c.4857C= (p.Ser1619=)
c.4542C= (p.Ser1514=)
c.2439C= (p.Ser813=)
c.4881C= (p.Ser1627=)
c.4872C= (p.Ser1624=)
c.4863C= (p.Ser1621=)
c.3201C= (p.Ser1067=)
Xg.108695311C>GCA517926089COL4A5c.4866C>G (p.Ser1622=)
c.4848C>G (p.Ser1616=)
n.1360C>G
n.1697C>G
c.219+390C>G (n.219+390C>G)
c.325-986C>G
c.4857C>G (p.Ser1619=)
c.4542C>G (p.Ser1514=)
c.2439C>G (p.Ser813=)
c.4881C>G (p.Ser1627=)
c.4872C>G (p.Ser1624=)
c.4863C>G (p.Ser1621=)
c.3201C>G (p.Ser1067=)
Xg.108695311C>TCA334063292COL4A5c.4866C>T (p.Ser1622=)
c.4848C>T (p.Ser1616=)
n.1360C>T
n.1697C>T
c.219+390C>T (n.219+390C>T)
c.325-986C>T
c.4857C>T (p.Ser1619=)
c.4542C>T (p.Ser1514=)
c.2439C>T (p.Ser813=)
c.4881C>T (p.Ser1627=)
c.4872C>T (p.Ser1624=)
c.4863C>T (p.Ser1621=)
c.3201C>T (p.Ser1067=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695312C>ACA414132730COL4A5c.4867C>A (p.Pro1623Thr)
c.4849C>A (p.Pro1617Thr)
n.1361C>A
n.1698C>A
c.219+391C>A (n.219+391C>A)
c.325-985C>A
c.4858C>A (p.Pro1620Thr)
c.4543C>A (p.Pro1515Thr)
c.2440C>A (p.Pro814Thr)
c.4882C>A (p.Pro1628Thr)
c.4873C>A (p.Pro1625Thr)
c.4864C>A (p.Pro1622Thr)
c.3202C>A (p.Pro1068Thr)
Xg.108695312C=CA2450721739COL4A5c.4867C= (p.Pro1623=)
c.4849C= (p.Pro1617=)
n.1361C=
n.1698C=
c.219+391C= (n.219+391C=)
c.325-985C=
c.4858C= (p.Pro1620=)
c.4543C= (p.Pro1515=)
c.2440C= (p.Pro814=)
c.4882C= (p.Pro1628=)
c.4873C= (p.Pro1625=)
c.4864C= (p.Pro1622=)
c.3202C= (p.Pro1068=)
Xg.108695312C>GCA414132729COL4A5c.4867C>G (p.Pro1623Ala)
c.4849C>G (p.Pro1617Ala)
n.1361C>G
n.1698C>G
c.219+391C>G (n.219+391C>G)
c.325-985C>G
c.4858C>G (p.Pro1620Ala)
c.4543C>G (p.Pro1515Ala)
c.2440C>G (p.Pro814Ala)
c.4882C>G (p.Pro1628Ala)
c.4873C>G (p.Pro1625Ala)
c.4864C>G (p.Pro1622Ala)
c.3202C>G (p.Pro1068Ala)
Xg.108695312C>TCA10489441COL4A5c.4867C>T (p.Pro1623Ser)
c.4849C>T (p.Pro1617Ser)
n.1361C>T
n.1698C>T
c.219+391C>T (n.219+391C>T)
c.325-985C>T
c.4858C>T (p.Pro1620Ser)
c.4543C>T (p.Pro1515Ser)
c.2440C>T (p.Pro814Ser)
c.4882C>T (p.Pro1628Ser)
c.4873C>T (p.Pro1625Ser)
c.4864C>T (p.Pro1622Ser)
c.3202C>T (p.Pro1068Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695313C>ACA414132731COL4A5c.4868C>A (p.Pro1623His)
c.4850C>A (p.Pro1617His)
n.1362C>A
n.1699C>A
c.219+392C>A (n.219+392C>A)
c.325-984C>A
c.4859C>A (p.Pro1620His)
c.4544C>A (p.Pro1515His)
c.2441C>A (p.Pro814His)
c.4883C>A (p.Pro1628His)
c.4874C>A (p.Pro1625His)
c.4865C>A (p.Pro1622His)
c.3203C>A (p.Pro1068His)
Xg.108695313C>GCA414132732COL4A5c.4868C>G (p.Pro1623Arg)
c.4850C>G (p.Pro1617Arg)
n.1362C>G
n.1699C>G
c.219+392C>G (n.219+392C>G)
c.325-984C>G
c.4859C>G (p.Pro1620Arg)
c.4544C>G (p.Pro1515Arg)
c.2441C>G (p.Pro814Arg)
c.4883C>G (p.Pro1628Arg)
c.4874C>G (p.Pro1625Arg)
c.4865C>G (p.Pro1622Arg)
c.3203C>G (p.Pro1068Arg)
Xg.108695313C>TCA414132733COL4A5c.4868C>T (p.Pro1623Leu)
c.4850C>T (p.Pro1617Leu)
n.1362C>T
n.1699C>T
c.219+392C>T (n.219+392C>T)
c.325-984C>T
c.4859C>T (p.Pro1620Leu)
c.4544C>T (p.Pro1515Leu)
c.2441C>T (p.Pro814Leu)
c.4883C>T (p.Pro1628Leu)
c.4874C>T (p.Pro1625Leu)
c.4865C>T (p.Pro1622Leu)
c.3203C>T (p.Pro1068Leu)
Xg.108695314T>ACA517926090COL4A5c.4869T>A (p.Pro1623=)
c.4851T>A (p.Pro1617=)
n.1363T>A
n.1700T>A
c.219+393T>A (n.219+393T>A)
c.325-983T>A
c.4860T>A (p.Pro1620=)
c.4545T>A (p.Pro1515=)
c.2442T>A (p.Pro814=)
c.4884T>A (p.Pro1628=)
c.4875T>A (p.Pro1625=)
c.4866T>A (p.Pro1622=)
c.3204T>A (p.Pro1068=)
Xg.108695314T>CCA517926091COL4A5c.4869T>C (p.Pro1623=)
c.4851T>C (p.Pro1617=)
n.1363T>C
n.1700T>C
c.219+393T>C (n.219+393T>C)
c.325-983T>C
c.4860T>C (p.Pro1620=)
c.4545T>C (p.Pro1515=)
c.2442T>C (p.Pro814=)
c.4884T>C (p.Pro1628=)
c.4875T>C (p.Pro1625=)
c.4866T>C (p.Pro1622=)
c.3204T>C (p.Pro1068=)
 dbSNP
Xg.108695314T>GCA517926092COL4A5c.4869T>G (p.Pro1623=)
c.4851T>G (p.Pro1617=)
n.1363T>G
n.1700T>G
c.219+393T>G (n.219+393T>G)
c.325-983T>G
c.4860T>G (p.Pro1620=)
c.4545T>G (p.Pro1515=)
c.2442T>G (p.Pro814=)
c.4884T>G (p.Pro1628=)
c.4875T>G (p.Pro1625=)
c.4866T>G (p.Pro1622=)
c.3204T>G (p.Pro1068=)
Xg.108695314T=CA2450721740COL4A5c.4869T= (p.Pro1623=)
c.4851T= (p.Pro1617=)
n.1363T=
n.1700T=
c.219+393T= (n.219+393T=)
c.325-983T=
c.4860T= (p.Pro1620=)
c.4545T= (p.Pro1515=)
c.2442T= (p.Pro814=)
c.4884T= (p.Pro1628=)
c.4875T= (p.Pro1625=)
c.4866T= (p.Pro1622=)
c.3204T= (p.Pro1068=)
Xg.108695315G>ACA414132734COL4A5c.4870G>A (p.Gly1624Ser)
c.4852G>A (p.Gly1618Ser)
n.1364G>A
n.1701G>A
c.219+394G>A (n.219+394G>A)
c.325-982G>A
c.4861G>A (p.Gly1621Ser)
c.4546G>A (p.Gly1516Ser)
c.2443G>A (p.Gly815Ser)
c.4885G>A (p.Gly1629Ser)
c.4876G>A (p.Gly1626Ser)
c.4867G>A (p.Gly1623Ser)
c.3205G>A (p.Gly1069Ser)
Xg.108695315G>CCA414132735COL4A5c.4870G>C (p.Gly1624Arg)
c.4852G>C (p.Gly1618Arg)
n.1364G>C
n.1701G>C
c.219+394G>C (n.219+394G>C)
c.325-982G>C
c.4861G>C (p.Gly1621Arg)
c.4546G>C (p.Gly1516Arg)
c.2443G>C (p.Gly815Arg)
c.4885G>C (p.Gly1629Arg)
c.4876G>C (p.Gly1626Arg)
c.4867G>C (p.Gly1623Arg)
c.3205G>C (p.Gly1069Arg)
Xg.108695315G>TCA414132736COL4A5c.4870G>T (p.Gly1624Cys)
c.4852G>T (p.Gly1618Cys)
n.1364G>T
n.1701G>T
c.219+394G>T (n.219+394G>T)
c.325-982G>T
c.4861G>T (p.Gly1621Cys)
c.4546G>T (p.Gly1516Cys)
c.2443G>T (p.Gly815Cys)
c.4885G>T (p.Gly1629Cys)
c.4876G>T (p.Gly1626Cys)
c.4867G>T (p.Gly1623Cys)
c.3205G>T (p.Gly1069Cys)
Xg.108695316delCA2580100250COL4A5c.4871del (p.Gly1624ValfsTer?)
c.4853del (p.Gly1618ValfsTer?)
n.1365del
n.1702del
c.219+395del (n.219+395del)
c.325-981del
c.4862del (p.Gly1621ValfsTer?)
c.4547del (p.Gly1516ValfsTer?)
c.2444del (p.Gly815ValfsTer?)
c.4886del (p.Gly1629ValfsTer?)
c.4877del (p.Gly1626ValfsTer?)
c.4868del (p.Gly1623ValfsTer?)
c.3206del (p.Gly1069ValfsTer?)
 ClinVar
Xg.108695316G>ACA414132737COL4A5c.4871G>A (p.Gly1624Asp)
c.4853G>A (p.Gly1618Asp)
n.1365G>A
n.1702G>A
c.219+395G>A (n.219+395G>A)
c.325-981G>A
c.4862G>A (p.Gly1621Asp)
c.4547G>A (p.Gly1516Asp)
c.2444G>A (p.Gly815Asp)
c.4886G>A (p.Gly1629Asp)
c.4877G>A (p.Gly1626Asp)
c.4868G>A (p.Gly1623Asp)
c.3206G>A (p.Gly1069Asp)
Xg.108695316G>CCA414132738COL4A5c.4871G>C (p.Gly1624Ala)
c.4853G>C (p.Gly1618Ala)
n.1365G>C
n.1702G>C
c.219+395G>C (n.219+395G>C)
c.325-981G>C
c.4862G>C (p.Gly1621Ala)
c.4547G>C (p.Gly1516Ala)
c.2444G>C (p.Gly815Ala)
c.4886G>C (p.Gly1629Ala)
c.4877G>C (p.Gly1626Ala)
c.4868G>C (p.Gly1623Ala)
c.3206G>C (p.Gly1069Ala)
 dbSNP gnomAD v4
Xg.108695316G=CA2450721741COL4A5c.4871G= (p.Gly1624=)
c.4853G= (p.Gly1618=)
n.1365G=
n.1702G=
c.219+395G= (n.219+395G=)
c.325-981G=
c.4862G= (p.Gly1621=)
c.4547G= (p.Gly1516=)
c.2444G= (p.Gly815=)
c.4886G= (p.Gly1629=)
c.4877G= (p.Gly1626=)
c.4868G= (p.Gly1623=)
c.3206G= (p.Gly1069=)
Xg.108695316G>TCA414132739COL4A5c.4871G>T (p.Gly1624Val)
c.4853G>T (p.Gly1618Val)
n.1365G>T
n.1702G>T
c.219+395G>T (n.219+395G>T)
c.325-981G>T
c.4862G>T (p.Gly1621Val)
c.4547G>T (p.Gly1516Val)
c.2444G>T (p.Gly815Val)
c.4886G>T (p.Gly1629Val)
c.4877G>T (p.Gly1626Val)
c.4868G>T (p.Gly1623Val)
c.3206G>T (p.Gly1069Val)
 gnomAD v4
Xg.108695317T>ACA517926093COL4A5c.4872T>A (p.Gly1624=)
c.4854T>A (p.Gly1618=)
n.1366T>A
n.1703T>A
c.219+396T>A (n.219+396T>A)
c.325-980T>A
c.4863T>A (p.Gly1621=)
c.4548T>A (p.Gly1516=)
c.2445T>A (p.Gly815=)
c.4887T>A (p.Gly1629=)
c.4878T>A (p.Gly1626=)
c.4869T>A (p.Gly1623=)
c.3207T>A (p.Gly1069=)
Xg.108695317T>CCA517926094COL4A5c.4872T>C (p.Gly1624=)
c.4854T>C (p.Gly1618=)
n.1366T>C
n.1703T>C
c.219+396T>C (n.219+396T>C)
c.325-980T>C
c.4863T>C (p.Gly1621=)
c.4548T>C (p.Gly1516=)
c.2445T>C (p.Gly815=)
c.4887T>C (p.Gly1629=)
c.4878T>C (p.Gly1626=)
c.4869T>C (p.Gly1623=)
c.3207T>C (p.Gly1069=)
Xg.108695317T>GCA517926095COL4A5c.4872T>G (p.Gly1624=)
c.4854T>G (p.Gly1618=)
n.1366T>G
n.1703T>G
c.219+396T>G (n.219+396T>G)
c.325-980T>G
c.4863T>G (p.Gly1621=)
c.4548T>G (p.Gly1516=)
c.2445T>G (p.Gly815=)
c.4887T>G (p.Gly1629=)
c.4878T>G (p.Gly1626=)
c.4869T>G (p.Gly1623=)
c.3207T>G (p.Gly1069=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695317T=CA2450721742COL4A5c.4872T= (p.Gly1624=)
c.4854T= (p.Gly1618=)
n.1366T=
n.1703T=
c.219+396T= (n.219+396T=)
c.325-980T=
c.4863T= (p.Gly1621=)
c.4548T= (p.Gly1516=)
c.2445T= (p.Gly815=)
c.4887T= (p.Gly1629=)
c.4878T= (p.Gly1626=)
c.4869T= (p.Gly1623=)
c.3207T= (p.Gly1069=)
Xg.108695318T>ACA414132740COL4A5c.4873T>A (p.Ser1625Thr)
c.4855T>A (p.Ser1619Thr)
n.1367T>A
n.1704T>A
c.219+397T>A (n.219+397T>A)
c.325-979T>A
c.4864T>A (p.Ser1622Thr)
c.4549T>A (p.Ser1517Thr)
c.2446T>A (p.Ser816Thr)
c.4888T>A (p.Ser1630Thr)
c.4879T>A (p.Ser1627Thr)
c.4870T>A (p.Ser1624Thr)
c.3208T>A (p.Ser1070Thr)
Xg.108695318T>CCA414132741COL4A5c.4873T>C (p.Ser1625Pro)
c.4855T>C (p.Ser1619Pro)
n.1367T>C
n.1704T>C
c.219+397T>C (n.219+397T>C)
c.325-979T>C
c.4864T>C (p.Ser1622Pro)
c.4549T>C (p.Ser1517Pro)
c.2446T>C (p.Ser816Pro)
c.4888T>C (p.Ser1630Pro)
c.4879T>C (p.Ser1627Pro)
c.4870T>C (p.Ser1624Pro)
c.3208T>C (p.Ser1070Pro)
Xg.108695318T>GCA414132742COL4A5c.4873T>G (p.Ser1625Ala)
c.4855T>G (p.Ser1619Ala)
n.1367T>G
n.1704T>G
c.219+397T>G (n.219+397T>G)
c.325-979T>G
c.4864T>G (p.Ser1622Ala)
c.4549T>G (p.Ser1517Ala)
c.2446T>G (p.Ser816Ala)
c.4888T>G (p.Ser1630Ala)
c.4879T>G (p.Ser1627Ala)
c.4870T>G (p.Ser1624Ala)
c.3208T>G (p.Ser1070Ala)
Xg.108695319C>ACA414132745COL4A5c.4874C>A (p.Ser1625Tyr)
c.4856C>A (p.Ser1619Tyr)
n.1368C>A
n.1705C>A
c.219+398C>A (n.219+398C>A)
c.325-978C>A
c.4865C>A (p.Ser1622Tyr)
c.4550C>A (p.Ser1517Tyr)
c.2447C>A (p.Ser816Tyr)
c.4889C>A (p.Ser1630Tyr)
c.4880C>A (p.Ser1627Tyr)
c.4871C>A (p.Ser1624Tyr)
c.3209C>A (p.Ser1070Tyr)
Xg.108695319C>GCA414132743COL4A5c.4874C>G (p.Ser1625Cys)
c.4856C>G (p.Ser1619Cys)
n.1368C>G
n.1705C>G
c.219+398C>G (n.219+398C>G)
c.325-978C>G
c.4865C>G (p.Ser1622Cys)
c.4550C>G (p.Ser1517Cys)
c.2447C>G (p.Ser816Cys)
c.4889C>G (p.Ser1630Cys)
c.4880C>G (p.Ser1627Cys)
c.4871C>G (p.Ser1624Cys)
c.3209C>G (p.Ser1070Cys)
Xg.108695319C>TCA414132744COL4A5c.4874C>T (p.Ser1625Phe)
c.4856C>T (p.Ser1619Phe)
n.1368C>T
n.1705C>T
c.219+398C>T (n.219+398C>T)
c.325-978C>T
c.4865C>T (p.Ser1622Phe)
c.4550C>T (p.Ser1517Phe)
c.2447C>T (p.Ser816Phe)
c.4889C>T (p.Ser1630Phe)
c.4880C>T (p.Ser1627Phe)
c.4871C>T (p.Ser1624Phe)
c.3209C>T (p.Ser1070Phe)
Xg.108695320C>ACA517926096COL4A5c.4875C>A (p.Ser1625=)
c.4857C>A (p.Ser1619=)
n.1369C>A
n.1706C>A
c.219+399C>A (n.219+399C>A)
c.325-977C>A
c.4866C>A (p.Ser1622=)
c.4551C>A (p.Ser1517=)
c.2448C>A (p.Ser816=)
c.4890C>A (p.Ser1630=)
c.4881C>A (p.Ser1627=)
c.4872C>A (p.Ser1624=)
c.3210C>A (p.Ser1070=)
Xg.108695320C>GCA517926097COL4A5c.4875C>G (p.Ser1625=)
c.4857C>G (p.Ser1619=)
n.1369C>G
n.1706C>G
c.219+399C>G (n.219+399C>G)
c.325-977C>G
c.4866C>G (p.Ser1622=)
c.4551C>G (p.Ser1517=)
c.2448C>G (p.Ser816=)
c.4890C>G (p.Ser1630=)
c.4881C>G (p.Ser1627=)
c.4872C>G (p.Ser1624=)
c.3210C>G (p.Ser1070=)
Xg.108695320C>TCA517926098COL4A5c.4875C>T (p.Ser1625=)
c.4857C>T (p.Ser1619=)
n.1369C>T
n.1706C>T
c.219+399C>T (n.219+399C>T)
c.325-977C>T
c.4866C>T (p.Ser1622=)
c.4551C>T (p.Ser1517=)
c.2448C>T (p.Ser816=)
c.4890C>T (p.Ser1630=)
c.4881C>T (p.Ser1627=)
c.4872C>T (p.Ser1624=)
c.3210C>T (p.Ser1070=)
 ClinVar dbSNP
Xg.108695321T>ACA414132746COL4A5c.4876T>A (p.Cys1626Ser)
c.4858T>A (p.Cys1620Ser)
n.1370T>A
n.1707T>A
c.219+400T>A (n.219+400T>A)
c.325-976T>A
c.4867T>A (p.Cys1623Ser)
c.4552T>A (p.Cys1518Ser)
c.2449T>A (p.Cys817Ser)
c.4891T>A (p.Cys1631Ser)
c.4882T>A (p.Cys1628Ser)
c.4873T>A (p.Cys1625Ser)
c.3211T>A (p.Cys1071Ser)
 ClinVar dbSNP
Xg.108695321T>CCA414132747COL4A5c.4876T>C (p.Cys1626Arg)
c.4858T>C (p.Cys1620Arg)
n.1370T>C
n.1707T>C
c.219+400T>C (n.219+400T>C)
c.325-976T>C
c.4867T>C (p.Cys1623Arg)
c.4552T>C (p.Cys1518Arg)
c.2449T>C (p.Cys817Arg)
c.4891T>C (p.Cys1631Arg)
c.4882T>C (p.Cys1628Arg)
c.4873T>C (p.Cys1625Arg)
c.3211T>C (p.Cys1071Arg)
Xg.108695321T>GCA414132748COL4A5c.4876T>G (p.Cys1626Gly)
c.4858T>G (p.Cys1620Gly)
n.1370T>G
n.1707T>G
c.219+400T>G (n.219+400T>G)
c.325-976T>G
c.4867T>G (p.Cys1623Gly)
c.4552T>G (p.Cys1518Gly)
c.2449T>G (p.Cys817Gly)
c.4891T>G (p.Cys1631Gly)
c.4882T>G (p.Cys1628Gly)
c.4873T>G (p.Cys1625Gly)
c.3211T>G (p.Cys1071Gly)
Xg.108695321T=CA2450721743COL4A5c.4876T= (p.Cys1626=)
c.4858T= (p.Cys1620=)
n.1370T=
n.1707T=
c.219+400T= (n.219+400T=)
c.325-976T=
c.4867T= (p.Cys1623=)
c.4552T= (p.Cys1518=)
c.2449T= (p.Cys817=)
c.4891T= (p.Cys1631=)
c.4882T= (p.Cys1628=)
c.4873T= (p.Cys1625=)
c.3211T= (p.Cys1071=)
Xg.108695322G>ACA414132749COL4A5c.4877G>A (p.Cys1626Tyr)
c.4859G>A (p.Cys1620Tyr)
n.1371G>A
n.1708G>A
c.219+401G>A (n.219+401G>A)
c.325-975G>A
c.4868G>A (p.Cys1623Tyr)
c.4553G>A (p.Cys1518Tyr)
c.2450G>A (p.Cys817Tyr)
c.4892G>A (p.Cys1631Tyr)
c.4883G>A (p.Cys1628Tyr)
c.4874G>A (p.Cys1625Tyr)
c.3212G>A (p.Cys1071Tyr)
 ClinVar
Xg.108695322G>CCA414132750COL4A5c.4877G>C (p.Cys1626Ser)
c.4859G>C (p.Cys1620Ser)
n.1371G>C
n.1708G>C
c.219+401G>C (n.219+401G>C)
c.325-975G>C
c.4868G>C (p.Cys1623Ser)
c.4553G>C (p.Cys1518Ser)
c.2450G>C (p.Cys817Ser)
c.4892G>C (p.Cys1631Ser)
c.4883G>C (p.Cys1628Ser)
c.4874G>C (p.Cys1625Ser)
c.3212G>C (p.Cys1071Ser)
Xg.108695322G>TCA414132751COL4A5c.4877G>T (p.Cys1626Phe)
c.4859G>T (p.Cys1620Phe)
n.1371G>T
n.1708G>T
c.219+401G>T (n.219+401G>T)
c.325-975G>T
c.4868G>T (p.Cys1623Phe)
c.4553G>T (p.Cys1518Phe)
c.2450G>T (p.Cys817Phe)
c.4892G>T (p.Cys1631Phe)
c.4883G>T (p.Cys1628Phe)
c.4874G>T (p.Cys1625Phe)
c.3212G>T (p.Cys1071Phe)
Xg.108695323C>ACA414132752COL4A5c.4878C>A (p.Cys1626Ter)
c.4860C>A (p.Cys1620Ter)
n.1372C>A
n.1709C>A
c.219+402C>A (n.219+402C>A)
c.325-974C>A
c.4869C>A (p.Cys1623Ter)
c.4554C>A (p.Cys1518Ter)
c.2451C>A (p.Cys817Ter)
c.4893C>A (p.Cys1631Ter)
c.4884C>A (p.Cys1628Ter)
c.4875C>A (p.Cys1625Ter)
c.3213C>A (p.Cys1071Ter)
Xg.108695323C>GCA414132753COL4A5c.4878C>G (p.Cys1626Trp)
c.4860C>G (p.Cys1620Trp)
n.1372C>G
n.1709C>G
c.219+402C>G (n.219+402C>G)
c.325-974C>G
c.4869C>G (p.Cys1623Trp)
c.4554C>G (p.Cys1518Trp)
c.2451C>G (p.Cys817Trp)
c.4893C>G (p.Cys1631Trp)
c.4884C>G (p.Cys1628Trp)
c.4875C>G (p.Cys1625Trp)
c.3213C>G (p.Cys1071Trp)
Xg.108695323C>TCA517926099COL4A5c.4878C>T (p.Cys1626=)
c.4860C>T (p.Cys1620=)
n.1372C>T
n.1709C>T
c.219+402C>T (n.219+402C>T)
c.325-974C>T
c.4869C>T (p.Cys1623=)
c.4554C>T (p.Cys1518=)
c.2451C>T (p.Cys817=)
c.4893C>T (p.Cys1631=)
c.4884C>T (p.Cys1628=)
c.4875C>T (p.Cys1625=)
c.3213C>T (p.Cys1071=)
Xg.108695324T>ACA414132754COL4A5c.4879T>A (p.Leu1627Met)
c.4861T>A (p.Leu1621Met)
n.1373T>A
n.1710T>A
c.219+403T>A (n.219+403T>A)
c.325-973T>A
c.4870T>A (p.Leu1624Met)
c.4555T>A (p.Leu1519Met)
c.2452T>A (p.Leu818Met)
c.4894T>A (p.Leu1632Met)
c.4885T>A (p.Leu1629Met)
c.4876T>A (p.Leu1626Met)
c.3214T>A (p.Leu1072Met)
Xg.108695324T>CCA517926100COL4A5c.4879T>C (p.Leu1627=)
c.4861T>C (p.Leu1621=)
n.1373T>C
n.1710T>C
c.219+403T>C (n.219+403T>C)
c.325-973T>C
c.4870T>C (p.Leu1624=)
c.4555T>C (p.Leu1519=)
c.2452T>C (p.Leu818=)
c.4894T>C (p.Leu1632=)
c.4885T>C (p.Leu1629=)
c.4876T>C (p.Leu1626=)
c.3214T>C (p.Leu1072=)
Xg.108695324T>GCA414132755COL4A5c.4879T>G (p.Leu1627Val)
c.4861T>G (p.Leu1621Val)
n.1373T>G
n.1710T>G
c.219+403T>G (n.219+403T>G)
c.325-973T>G
c.4870T>G (p.Leu1624Val)
c.4555T>G (p.Leu1519Val)
c.2452T>G (p.Leu818Val)
c.4894T>G (p.Leu1632Val)
c.4885T>G (p.Leu1629Val)
c.4876T>G (p.Leu1626Val)
c.3214T>G (p.Leu1072Val)
Xg.108695325T>ACA414132758COL4A5c.4880T>A (p.Leu1627Ter)
c.4862T>A (p.Leu1621Ter)
n.1374T>A
n.1711T>A
c.219+404T>A (n.219+404T>A)
c.325-972T>A
c.4871T>A (p.Leu1624Ter)
c.4556T>A (p.Leu1519Ter)
c.2453T>A (p.Leu818Ter)
c.4895T>A (p.Leu1632Ter)
c.4886T>A (p.Leu1629Ter)
c.4877T>A (p.Leu1626Ter)
c.3215T>A (p.Leu1072Ter)
Xg.108695325T>CCA414132757COL4A5c.4880T>C (p.Leu1627Ser)
c.4862T>C (p.Leu1621Ser)
n.1374T>C
n.1711T>C
c.219+404T>C (n.219+404T>C)
c.325-972T>C
c.4871T>C (p.Leu1624Ser)
c.4556T>C (p.Leu1519Ser)
c.2453T>C (p.Leu818Ser)
c.4895T>C (p.Leu1632Ser)
c.4886T>C (p.Leu1629Ser)
c.4877T>C (p.Leu1626Ser)
c.3215T>C (p.Leu1072Ser)
Xg.108695325T>GCA414132756COL4A5c.4880T>G (p.Leu1627Trp)
c.4862T>G (p.Leu1621Trp)
n.1374T>G
n.1711T>G
c.219+404T>G (n.219+404T>G)
c.325-972T>G
c.4871T>G (p.Leu1624Trp)
c.4556T>G (p.Leu1519Trp)
c.2453T>G (p.Leu818Trp)
c.4895T>G (p.Leu1632Trp)
c.4886T>G (p.Leu1629Trp)
c.4877T>G (p.Leu1626Trp)
c.3215T>G (p.Leu1072Trp)
Xg.108695325T=CA2450721744COL4A5c.4880T= (p.Leu1627=)
c.4862T= (p.Leu1621=)
n.1374T=
n.1711T=
c.219+404T= (n.219+404T=)
c.325-972T=
c.4871T= (p.Leu1624=)
c.4556T= (p.Leu1519=)
c.2453T= (p.Leu818=)
c.4895T= (p.Leu1632=)
c.4886T= (p.Leu1629=)
c.4877T= (p.Leu1626=)
c.3215T= (p.Leu1072=)
Xg.108695326G>ACA517926101COL4A5c.4881G>A (p.Leu1627=)
c.4863G>A (p.Leu1621=)
n.1375G>A
n.1712G>A
c.219+405G>A (n.219+405G>A)
c.325-971G>A
c.4872G>A (p.Leu1624=)
c.4557G>A (p.Leu1519=)
c.2454G>A (p.Leu818=)
c.4896G>A (p.Leu1632=)
c.4887G>A (p.Leu1629=)
c.4878G>A (p.Leu1626=)
c.3216G>A (p.Leu1072=)
Xg.108695326G>CCA414132759COL4A5c.4881G>C (p.Leu1627Phe)
c.4863G>C (p.Leu1621Phe)
n.1375G>C
n.1712G>C
c.219+405G>C (n.219+405G>C)
c.325-971G>C
c.4872G>C (p.Leu1624Phe)
c.4557G>C (p.Leu1519Phe)
c.2454G>C (p.Leu818Phe)
c.4896G>C (p.Leu1632Phe)
c.4887G>C (p.Leu1629Phe)
c.4878G>C (p.Leu1626Phe)
c.3216G>C (p.Leu1072Phe)
Xg.108695326G>TCA414132760COL4A5c.4881G>T (p.Leu1627Phe)
c.4863G>T (p.Leu1621Phe)
n.1375G>T
n.1712G>T
c.219+405G>T (n.219+405G>T)
c.325-971G>T
c.4872G>T (p.Leu1624Phe)
c.4557G>T (p.Leu1519Phe)
c.2454G>T (p.Leu818Phe)
c.4896G>T (p.Leu1632Phe)
c.4887G>T (p.Leu1629Phe)
c.4878G>T (p.Leu1626Phe)
c.3216G>T (p.Leu1072Phe)
Xg.108695327G>ACA414132761COL4A5c.4882G>A (p.Glu1628Lys)
c.4864G>A (p.Glu1622Lys)
n.1376G>A
n.1713G>A
c.219+406G>A (n.219+406G>A)
c.325-970G>A
c.4873G>A (p.Glu1625Lys)
c.4558G>A (p.Glu1520Lys)
c.2455G>A (p.Glu819Lys)
c.4897G>A (p.Glu1633Lys)
c.4888G>A (p.Glu1630Lys)
c.4879G>A (p.Glu1627Lys)
c.3217G>A (p.Glu1073Lys)
 COSMIC
Xg.108695327G>CCA414132762COL4A5c.4882G>C (p.Glu1628Gln)
c.4864G>C (p.Glu1622Gln)
n.1376G>C
n.1713G>C
c.219+406G>C (n.219+406G>C)
c.325-970G>C
c.4873G>C (p.Glu1625Gln)
c.4558G>C (p.Glu1520Gln)
c.2455G>C (p.Glu819Gln)
c.4897G>C (p.Glu1633Gln)
c.4888G>C (p.Glu1630Gln)
c.4879G>C (p.Glu1627Gln)
c.3217G>C (p.Glu1073Gln)
Xg.108695327G>TCA414132763COL4A5c.4882G>T (p.Glu1628Ter)
c.4864G>T (p.Glu1622Ter)
n.1376G>T
n.1713G>T
c.219+406G>T (n.219+406G>T)
c.325-970G>T
c.4873G>T (p.Glu1625Ter)
c.4558G>T (p.Glu1520Ter)
c.2455G>T (p.Glu819Ter)
c.4897G>T (p.Glu1633Ter)
c.4888G>T (p.Glu1630Ter)
c.4879G>T (p.Glu1627Ter)
c.3217G>T (p.Glu1073Ter)
Xg.108695328A>CCA414132764COL4A5c.4883A>C (p.Glu1628Ala)
c.4865A>C (p.Glu1622Ala)
n.1377A>C
n.1714A>C
c.219+407A>C (n.219+407A>C)
c.325-969A>C
c.4874A>C (p.Glu1625Ala)
c.4559A>C (p.Glu1520Ala)
c.2456A>C (p.Glu819Ala)
c.4898A>C (p.Glu1633Ala)
c.4889A>C (p.Glu1630Ala)
c.4880A>C (p.Glu1627Ala)
c.3218A>C (p.Glu1073Ala)
Xg.108695328A>GCA414132765COL4A5c.4883A>G (p.Glu1628Gly)
c.4865A>G (p.Glu1622Gly)
n.1377A>G
n.1714A>G
c.219+407A>G (n.219+407A>G)
c.325-969A>G
c.4874A>G (p.Glu1625Gly)
c.4559A>G (p.Glu1520Gly)
c.2456A>G (p.Glu819Gly)
c.4898A>G (p.Glu1633Gly)
c.4889A>G (p.Glu1630Gly)
c.4880A>G (p.Glu1627Gly)
c.3218A>G (p.Glu1073Gly)
Xg.108695328A>TCA414132766COL4A5c.4883A>T (p.Glu1628Val)
c.4865A>T (p.Glu1622Val)
n.1377A>T
n.1714A>T
c.219+407A>T (n.219+407A>T)
c.325-969A>T
c.4874A>T (p.Glu1625Val)
c.4559A>T (p.Glu1520Val)
c.2456A>T (p.Glu819Val)
c.4898A>T (p.Glu1633Val)
c.4889A>T (p.Glu1630Val)
c.4880A>T (p.Glu1627Val)
c.3218A>T (p.Glu1073Val)
Xg.108695329A>CCA414132767COL4A5c.4884A>C (p.Glu1628Asp)
c.4866A>C (p.Glu1622Asp)
n.1378A>C
n.1715A>C
c.219+408A>C (n.219+408A>C)
c.325-968A>C
c.4875A>C (p.Glu1625Asp)
c.4560A>C (p.Glu1520Asp)
c.2457A>C (p.Glu819Asp)
c.4899A>C (p.Glu1633Asp)
c.4890A>C (p.Glu1630Asp)
c.4881A>C (p.Glu1627Asp)
c.3219A>C (p.Glu1073Asp)
Xg.108695329A>GCA517926102COL4A5c.4884A>G (p.Glu1628=)
c.4866A>G (p.Glu1622=)
n.1378A>G
n.1715A>G
c.219+408A>G (n.219+408A>G)
c.325-968A>G
c.4875A>G (p.Glu1625=)
c.4560A>G (p.Glu1520=)
c.2457A>G (p.Glu819=)
c.4899A>G (p.Glu1633=)
c.4890A>G (p.Glu1630=)
c.4881A>G (p.Glu1627=)
c.3219A>G (p.Glu1073=)
Xg.108695329A>TCA414132768COL4A5c.4884A>T (p.Glu1628Asp)
c.4866A>T (p.Glu1622Asp)
n.1378A>T
n.1715A>T
c.219+408A>T (n.219+408A>T)
c.325-968A>T
c.4875A>T (p.Glu1625Asp)
c.4560A>T (p.Glu1520Asp)
c.2457A>T (p.Glu819Asp)
c.4899A>T (p.Glu1633Asp)
c.4890A>T (p.Glu1630Asp)
c.4881A>T (p.Glu1627Asp)
c.3219A>T (p.Glu1073Asp)
Xg.108695330G>ACA414132769COL4A5c.4885G>A (p.Glu1629Lys)
c.4867G>A (p.Glu1623Lys)
n.1379G>A
n.1716G>A
c.219+409G>A (n.219+409G>A)
c.325-967G>A
c.4876G>A (p.Glu1626Lys)
c.4561G>A (p.Glu1521Lys)
c.2458G>A (p.Glu820Lys)
c.4900G>A (p.Glu1634Lys)
c.4891G>A (p.Glu1631Lys)
c.4882G>A (p.Glu1628Lys)
c.3220G>A (p.Glu1074Lys)
 gnomAD v4
Xg.108695330G>CCA414132770COL4A5c.4885G>C (p.Glu1629Gln)
c.4867G>C (p.Glu1623Gln)
n.1379G>C
n.1716G>C
c.219+409G>C (n.219+409G>C)
c.325-967G>C
c.4876G>C (p.Glu1626Gln)
c.4561G>C (p.Glu1521Gln)
c.2458G>C (p.Glu820Gln)
c.4900G>C (p.Glu1634Gln)
c.4891G>C (p.Glu1631Gln)
c.4882G>C (p.Glu1628Gln)
c.3220G>C (p.Glu1074Gln)
Xg.108695330G>TCA414132771COL4A5c.4885G>T (p.Glu1629Ter)
c.4867G>T (p.Glu1623Ter)
n.1379G>T
n.1716G>T
c.219+409G>T (n.219+409G>T)
c.325-967G>T
c.4876G>T (p.Glu1626Ter)
c.4561G>T (p.Glu1521Ter)
c.2458G>T (p.Glu820Ter)
c.4900G>T (p.Glu1634Ter)
c.4891G>T (p.Glu1631Ter)
c.4882G>T (p.Glu1628Ter)
c.3220G>T (p.Glu1074Ter)
Xg.108695330_108695343dupCA2695235251COL4A5c.4885_4898dup (p.Pro1634SerfsTer30)
c.4867_4880dup (p.Pro1628SerfsTer30)
n.1379_1392dup
n.1716_1729dup
c.219+409_219+422dup (n.219+409_219+422dup)
c.325-967_325-954dup
c.4876_4889dup (p.Pro1631SerfsTer30)
c.4561_4574dup (p.Pro1526SerfsTer30)
c.2458_2471dup (p.Pro825SerfsTer30)
c.4900_4913dup (p.Pro1639SerfsTer30)
c.4891_4904dup (p.Pro1636SerfsTer30)
c.4882_4895dup (p.Pro1633SerfsTer30)
c.3220_3233dup (p.Pro1079SerfsTer30)
Xg.108695331A>CCA414132772COL4A5c.4886A>C (p.Glu1629Ala)
c.4868A>C (p.Glu1623Ala)
n.1380A>C
n.1717A>C
c.219+410A>C (n.219+410A>C)
c.325-966A>C
c.4877A>C (p.Glu1626Ala)
c.4562A>C (p.Glu1521Ala)
c.2459A>C (p.Glu820Ala)
c.4901A>C (p.Glu1634Ala)
c.4892A>C (p.Glu1631Ala)
c.4883A>C (p.Glu1628Ala)
c.3221A>C (p.Glu1074Ala)
Xg.108695331A>GCA414132774COL4A5c.4886A>G (p.Glu1629Gly)
c.4868A>G (p.Glu1623Gly)
n.1380A>G
n.1717A>G
c.219+410A>G (n.219+410A>G)
c.325-966A>G
c.4877A>G (p.Glu1626Gly)
c.4562A>G (p.Glu1521Gly)
c.2459A>G (p.Glu820Gly)
c.4901A>G (p.Glu1634Gly)
c.4892A>G (p.Glu1631Gly)
c.4883A>G (p.Glu1628Gly)
c.3221A>G (p.Glu1074Gly)
Xg.108695331A>TCA414132773COL4A5c.4886A>T (p.Glu1629Val)
c.4868A>T (p.Glu1623Val)
n.1380A>T
n.1717A>T
c.219+410A>T (n.219+410A>T)
c.325-966A>T
c.4877A>T (p.Glu1626Val)
c.4562A>T (p.Glu1521Val)
c.2459A>T (p.Glu820Val)
c.4901A>T (p.Glu1634Val)
c.4892A>T (p.Glu1631Val)
c.4883A>T (p.Glu1628Val)
c.3221A>T (p.Glu1074Val)
Xg.108695332G>ACA517926103COL4A5c.4887G>A (p.Glu1629=)
c.4869G>A (p.Glu1623=)
n.1381G>A
n.1718G>A
c.219+411G>A (n.219+411G>A)
c.325-965G>A
c.4878G>A (p.Glu1626=)
c.4563G>A (p.Glu1521=)
c.2460G>A (p.Glu820=)
c.4902G>A (p.Glu1634=)
c.4893G>A (p.Glu1631=)
c.4884G>A (p.Glu1628=)
c.3222G>A (p.Glu1074=)
 ClinVar dbSNP gnomAD v4
Xg.108695332G>CCA414132775COL4A5c.4887G>C (p.Glu1629Asp)
c.4869G>C (p.Glu1623Asp)
n.1381G>C
n.1718G>C
c.219+411G>C (n.219+411G>C)
c.325-965G>C
c.4878G>C (p.Glu1626Asp)
c.4563G>C (p.Glu1521Asp)
c.2460G>C (p.Glu820Asp)
c.4902G>C (p.Glu1634Asp)
c.4893G>C (p.Glu1631Asp)
c.4884G>C (p.Glu1628Asp)
c.3222G>C (p.Glu1074Asp)
Xg.108695332G=CA2450721745COL4A5c.4887G= (p.Glu1629=)
c.4869G= (p.Glu1623=)
n.1381G=
n.1718G=
c.219+411G= (n.219+411G=)
c.325-965G=
c.4878G= (p.Glu1626=)
c.4563G= (p.Glu1521=)
c.2460G= (p.Glu820=)
c.4902G= (p.Glu1634=)
c.4893G= (p.Glu1631=)
c.4884G= (p.Glu1628=)
c.3222G= (p.Glu1074=)
Xg.108695332G>TCA414132776COL4A5c.4887G>T (p.Glu1629Asp)
c.4869G>T (p.Glu1623Asp)
n.1381G>T
n.1718G>T
c.219+411G>T (n.219+411G>T)
c.325-965G>T
c.4878G>T (p.Glu1626Asp)
c.4563G>T (p.Glu1521Asp)
c.2460G>T (p.Glu820Asp)
c.4902G>T (p.Glu1634Asp)
c.4893G>T (p.Glu1631Asp)
c.4884G>T (p.Glu1628Asp)
c.3222G>T (p.Glu1074Asp)
Xg.108695333T>ACA414132777COL4A5c.4888T>A (p.Phe1630Ile)
c.4870T>A (p.Phe1624Ile)
n.1382T>A
n.1719T>A
c.219+412T>A (n.219+412T>A)
c.325-964T>A
c.4879T>A (p.Phe1627Ile)
c.4564T>A (p.Phe1522Ile)
c.2461T>A (p.Phe821Ile)
c.4903T>A (p.Phe1635Ile)
c.4894T>A (p.Phe1632Ile)
c.4885T>A (p.Phe1629Ile)
c.3223T>A (p.Phe1075Ile)
Xg.108695333T>CCA414132778COL4A5c.4888T>C (p.Phe1630Leu)
c.4870T>C (p.Phe1624Leu)
n.1382T>C
n.1719T>C
c.219+412T>C (n.219+412T>C)
c.325-964T>C
c.4879T>C (p.Phe1627Leu)
c.4564T>C (p.Phe1522Leu)
c.2461T>C (p.Phe821Leu)
c.4903T>C (p.Phe1635Leu)
c.4894T>C (p.Phe1632Leu)
c.4885T>C (p.Phe1629Leu)
c.3223T>C (p.Phe1075Leu)
Xg.108695333T>GCA414132779COL4A5c.4888T>G (p.Phe1630Val)
c.4870T>G (p.Phe1624Val)
n.1382T>G
n.1719T>G
c.219+412T>G (n.219+412T>G)
c.325-964T>G
c.4879T>G (p.Phe1627Val)
c.4564T>G (p.Phe1522Val)
c.2461T>G (p.Phe821Val)
c.4903T>G (p.Phe1635Val)
c.4894T>G (p.Phe1632Val)
c.4885T>G (p.Phe1629Val)
c.3223T>G (p.Phe1075Val)
Xg.108695334T>ACA414132780COL4A5c.4889T>A (p.Phe1630Tyr)
c.4871T>A (p.Phe1624Tyr)
n.1383T>A
n.1720T>A
c.219+413T>A (n.219+413T>A)
c.325-963T>A
c.4880T>A (p.Phe1627Tyr)
c.4565T>A (p.Phe1522Tyr)
c.2462T>A (p.Phe821Tyr)
c.4904T>A (p.Phe1635Tyr)
c.4895T>A (p.Phe1632Tyr)
c.4886T>A (p.Phe1629Tyr)
c.3224T>A (p.Phe1075Tyr)
Xg.108695334T>CCA414132781COL4A5c.4889T>C (p.Phe1630Ser)
c.4871T>C (p.Phe1624Ser)
n.1383T>C
n.1720T>C
c.219+413T>C (n.219+413T>C)
c.325-963T>C
c.4880T>C (p.Phe1627Ser)
c.4565T>C (p.Phe1522Ser)
c.2462T>C (p.Phe821Ser)
c.4904T>C (p.Phe1635Ser)
c.4895T>C (p.Phe1632Ser)
c.4886T>C (p.Phe1629Ser)
c.3224T>C (p.Phe1075Ser)
Xg.108695334T>GCA414132782COL4A5c.4889T>G (p.Phe1630Cys)
c.4871T>G (p.Phe1624Cys)
n.1383T>G
n.1720T>G
c.219+413T>G (n.219+413T>G)
c.325-963T>G
c.4880T>G (p.Phe1627Cys)
c.4565T>G (p.Phe1522Cys)
c.2462T>G (p.Phe821Cys)
c.4904T>G (p.Phe1635Cys)
c.4895T>G (p.Phe1632Cys)
c.4886T>G (p.Phe1629Cys)
c.3224T>G (p.Phe1075Cys)
Xg.108695337_108695340delCA2739273724COL4A5c.4892_4895del (p.Arg1631GlnfsTer27)
c.4874_4877del (p.Arg1625GlnfsTer27)
n.1386_1389del
n.1723_1726del
c.219+416_219+419del (n.219+416_219+419del)
c.325-960_325-957del
c.4883_4886del (p.Arg1628GlnfsTer27)
c.4568_4571del (p.Arg1523GlnfsTer27)
c.2465_2468del (p.Arg822GlnfsTer27)
c.4907_4910del (p.Arg1636GlnfsTer27)
c.4898_4901del (p.Arg1633GlnfsTer27)
c.4889_4892del (p.Arg1630GlnfsTer27)
c.3227_3230del (p.Arg1076GlnfsTer27)
 ClinVar
Xg.108695335T>ACA414132783COL4A5c.4890T>A (p.Phe1630Leu)
c.4872T>A (p.Phe1624Leu)
n.1384T>A
n.1721T>A
c.219+414T>A (n.219+414T>A)
c.325-962T>A
c.4881T>A (p.Phe1627Leu)
c.4566T>A (p.Phe1522Leu)
c.2463T>A (p.Phe821Leu)
c.4905T>A (p.Phe1635Leu)
c.4896T>A (p.Phe1632Leu)
c.4887T>A (p.Phe1629Leu)
c.3225T>A (p.Phe1075Leu)
Xg.108695335T>CCA10489442COL4A5c.4890T>C (p.Phe1630=)
c.4872T>C (p.Phe1624=)
n.1384T>C
n.1721T>C
c.219+414T>C (n.219+414T>C)
c.325-962T>C
c.4881T>C (p.Phe1627=)
c.4566T>C (p.Phe1522=)
c.2463T>C (p.Phe821=)
c.4905T>C (p.Phe1635=)
c.4896T>C (p.Phe1632=)
c.4887T>C (p.Phe1629=)
c.3225T>C (p.Phe1075=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695335T>GCA414132784COL4A5c.4890T>G (p.Phe1630Leu)
c.4872T>G (p.Phe1624Leu)
n.1384T>G
n.1721T>G
c.219+414T>G (n.219+414T>G)
c.325-962T>G
c.4881T>G (p.Phe1627Leu)
c.4566T>G (p.Phe1522Leu)
c.2463T>G (p.Phe821Leu)
c.4905T>G (p.Phe1635Leu)
c.4896T>G (p.Phe1632Leu)
c.4887T>G (p.Phe1629Leu)
c.3225T>G (p.Phe1075Leu)
 gnomAD v4
Xg.108695335T=CA2450721746COL4A5c.4890T= (p.Phe1630=)
c.4872T= (p.Phe1624=)
n.1384T=
n.1721T=
c.219+414T= (n.219+414T=)
c.325-962T=
c.4881T= (p.Phe1627=)
c.4566T= (p.Phe1522=)
c.2463T= (p.Phe821=)
c.4905T= (p.Phe1635=)
c.4896T= (p.Phe1632=)
c.4887T= (p.Phe1629=)
c.3225T= (p.Phe1075=)
Xg.108695336C>ACA414132785COL4A5c.4891C>A (p.Arg1631Ser)
c.4873C>A (p.Arg1625Ser)
n.1385C>A
n.1722C>A
c.219+415C>A (n.219+415C>A)
c.325-961C>A
c.4882C>A (p.Arg1628Ser)
c.4567C>A (p.Arg1523Ser)
c.2464C>A (p.Arg822Ser)
c.4906C>A (p.Arg1636Ser)
c.4897C>A (p.Arg1633Ser)
c.4888C>A (p.Arg1630Ser)
c.3226C>A (p.Arg1076Ser)
Xg.108695336C=CA2450721747COL4A5c.4891C= (p.Arg1631=)
c.4873C= (p.Arg1625=)
n.1385C=
n.1722C=
c.219+415C= (n.219+415C=)
c.325-961C=
c.4882C= (p.Arg1628=)
c.4567C= (p.Arg1523=)
c.2464C= (p.Arg822=)
c.4906C= (p.Arg1636=)
c.4897C= (p.Arg1633=)
c.4888C= (p.Arg1630=)
c.3226C= (p.Arg1076=)
Xg.108695336C>GCA414132786COL4A5c.4891C>G (p.Arg1631Gly)
c.4873C>G (p.Arg1625Gly)
n.1385C>G
n.1722C>G
c.219+415C>G (n.219+415C>G)
c.325-961C>G
c.4882C>G (p.Arg1628Gly)
c.4567C>G (p.Arg1523Gly)
c.2464C>G (p.Arg822Gly)
c.4906C>G (p.Arg1636Gly)
c.4897C>G (p.Arg1633Gly)
c.4888C>G (p.Arg1630Gly)
c.3226C>G (p.Arg1076Gly)
Xg.108695336C>TCA334063315COL4A5c.4891C>T (p.Arg1631Cys)
c.4873C>T (p.Arg1625Cys)
n.1385C>T
n.1722C>T
c.219+415C>T (n.219+415C>T)
c.325-961C>T
c.4882C>T (p.Arg1628Cys)
c.4567C>T (p.Arg1523Cys)
c.2464C>T (p.Arg822Cys)
c.4906C>T (p.Arg1636Cys)
c.4897C>T (p.Arg1633Cys)
c.4888C>T (p.Arg1630Cys)
c.3226C>T (p.Arg1076Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108695337G>ACA10489443COL4A5c.4892G>A (p.Arg1631His)
c.4874G>A (p.Arg1625His)
n.1386G>A
n.1723G>A
c.219+416G>A (n.219+416G>A)
c.325-960G>A
c.4883G>A (p.Arg1628His)
c.4568G>A (p.Arg1523His)
c.2465G>A (p.Arg822His)
c.4907G>A (p.Arg1636His)
c.4898G>A (p.Arg1633His)
c.4889G>A (p.Arg1630His)
c.3227G>A (p.Arg1076His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.108695337G>CCA414132787COL4A5c.4892G>C (p.Arg1631Pro)
c.4874G>C (p.Arg1625Pro)
n.1386G>C
n.1723G>C
c.219+416G>C (n.219+416G>C)
c.325-960G>C
c.4883G>C (p.Arg1628Pro)
c.4568G>C (p.Arg1523Pro)
c.2465G>C (p.Arg822Pro)
c.4907G>C (p.Arg1636Pro)
c.4898G>C (p.Arg1633Pro)
c.4889G>C (p.Arg1630Pro)
c.3227G>C (p.Arg1076Pro)
Xg.108695337G=CA2450721748COL4A5c.4892G= (p.Arg1631=)
c.4874G= (p.Arg1625=)
n.1386G=
n.1723G=
c.219+416G= (n.219+416G=)
c.325-960G=
c.4883G= (p.Arg1628=)
c.4568G= (p.Arg1523=)
c.2465G= (p.Arg822=)
c.4907G= (p.Arg1636=)
c.4898G= (p.Arg1633=)
c.4889G= (p.Arg1630=)
c.3227G= (p.Arg1076=)
Xg.108695337G>TCA414132788COL4A5c.4892G>T (p.Arg1631Leu)
c.4874G>T (p.Arg1625Leu)
n.1386G>T
n.1723G>T
c.219+416G>T (n.219+416G>T)
c.325-960G>T
c.4883G>T (p.Arg1628Leu)
c.4568G>T (p.Arg1523Leu)
c.2465G>T (p.Arg822Leu)
c.4907G>T (p.Arg1636Leu)
c.4898G>T (p.Arg1633Leu)
c.4889G>T (p.Arg1630Leu)
c.3227G>T (p.Arg1076Leu)
 dbSNP
Xg.108695338T>ACA517926104COL4A5c.4893T>A (p.Arg1631=)
c.4875T>A (p.Arg1625=)
n.1387T>A
n.1724T>A
c.219+417T>A (n.219+417T>A)
c.325-959T>A
c.4884T>A (p.Arg1628=)
c.4569T>A (p.Arg1523=)
c.2466T>A (p.Arg822=)
c.4908T>A (p.Arg1636=)
c.4899T>A (p.Arg1633=)
c.4890T>A (p.Arg1630=)
c.3228T>A (p.Arg1076=)
Xg.108695338T>CCA517926106COL4A5c.4893T>C (p.Arg1631=)
c.4875T>C (p.Arg1625=)
n.1387T>C
n.1724T>C
c.219+417T>C (n.219+417T>C)
c.325-959T>C
c.4884T>C (p.Arg1628=)
c.4569T>C (p.Arg1523=)
c.2466T>C (p.Arg822=)
c.4908T>C (p.Arg1636=)
c.4899T>C (p.Arg1633=)
c.4890T>C (p.Arg1630=)
c.3228T>C (p.Arg1076=)
 COSMIC COSMIC
Xg.108695338T>GCA517926105COL4A5c.4893T>G (p.Arg1631=)
c.4875T>G (p.Arg1625=)
n.1387T>G
n.1724T>G
c.219+417T>G (n.219+417T>G)
c.325-959T>G
c.4884T>G (p.Arg1628=)
c.4569T>G (p.Arg1523=)
c.2466T>G (p.Arg822=)
c.4908T>G (p.Arg1636=)
c.4899T>G (p.Arg1633=)
c.4890T>G (p.Arg1630=)
c.3228T>G (p.Arg1076=)
Xg.108695339T>ACA414132789COL4A5c.4894T>A (p.Ser1632Thr)
c.4876T>A (p.Ser1626Thr)
n.1388T>A
n.1725T>A
c.219+418T>A (n.219+418T>A)
c.325-958T>A
c.4885T>A (p.Ser1629Thr)
c.4570T>A (p.Ser1524Thr)
c.2467T>A (p.Ser823Thr)
c.4909T>A (p.Ser1637Thr)
c.4900T>A (p.Ser1634Thr)
c.4891T>A (p.Ser1631Thr)
c.3229T>A (p.Ser1077Thr)
Xg.108695339T>CCA414132790COL4A5c.4894T>C (p.Ser1632Pro)
c.4876T>C (p.Ser1626Pro)
n.1388T>C
n.1725T>C
c.219+418T>C (n.219+418T>C)
c.325-958T>C
c.4885T>C (p.Ser1629Pro)
c.4570T>C (p.Ser1524Pro)
c.2467T>C (p.Ser823Pro)
c.4909T>C (p.Ser1637Pro)
c.4900T>C (p.Ser1634Pro)
c.4891T>C (p.Ser1631Pro)
c.3229T>C (p.Ser1077Pro)
 gnomAD v4
Xg.108695339T>GCA414132791COL4A5c.4894T>G (p.Ser1632Ala)
c.4876T>G (p.Ser1626Ala)
n.1388T>G
n.1725T>G
c.219+418T>G (n.219+418T>G)
c.325-958T>G
c.4885T>G (p.Ser1629Ala)
c.4570T>G (p.Ser1524Ala)
c.2467T>G (p.Ser823Ala)
c.4909T>G (p.Ser1637Ala)
c.4900T>G (p.Ser1634Ala)
c.4891T>G (p.Ser1631Ala)
c.3229T>G (p.Ser1077Ala)
Xg.108695340C>ACA414132792COL4A5c.4895C>A (p.Ser1632Ter)
c.4877C>A (p.Ser1626Ter)
n.1389C>A
n.1726C>A
c.219+419C>A (n.219+419C>A)
c.325-957C>A
c.4886C>A (p.Ser1629Ter)
c.4571C>A (p.Ser1524Ter)
c.2468C>A (p.Ser823Ter)
c.4910C>A (p.Ser1637Ter)
c.4901C>A (p.Ser1634Ter)
c.4892C>A (p.Ser1631Ter)
c.3230C>A (p.Ser1077Ter)
Xg.108695340C=CA2450721749COL4A5c.4895C= (p.Ser1632=)
c.4877C= (p.Ser1626=)
n.1389C=
n.1726C=
c.219+419C= (n.219+419C=)
c.325-957C=
c.4886C= (p.Ser1629=)
c.4571C= (p.Ser1524=)
c.2468C= (p.Ser823=)
c.4910C= (p.Ser1637=)
c.4901C= (p.Ser1634=)
c.4892C= (p.Ser1631=)
c.3230C= (p.Ser1077=)
Xg.108695340C>GCA414132793COL4A5c.4895C>G (p.Ser1632Ter)
c.4877C>G (p.Ser1626Ter)
n.1389C>G
n.1726C>G
c.219+419C>G (n.219+419C>G)
c.325-957C>G
c.4886C>G (p.Ser1629Ter)
c.4571C>G (p.Ser1524Ter)
c.2468C>G (p.Ser823Ter)
c.4910C>G (p.Ser1637Ter)
c.4901C>G (p.Ser1634Ter)
c.4892C>G (p.Ser1631Ter)
c.3230C>G (p.Ser1077Ter)
Xg.108695340C>TCA414132794COL4A5c.4895C>T (p.Ser1632Leu)
c.4877C>T (p.Ser1626Leu)
n.1389C>T
n.1726C>T
c.219+419C>T (n.219+419C>T)
c.325-957C>T
c.4886C>T (p.Ser1629Leu)
c.4571C>T (p.Ser1524Leu)
c.2468C>T (p.Ser823Leu)
c.4910C>T (p.Ser1637Leu)
c.4901C>T (p.Ser1634Leu)
c.4892C>T (p.Ser1631Leu)
c.3230C>T (p.Ser1077Leu)
 ClinVar dbSNP
Xg.108695341A>CCA517926107COL4A5c.4896A>C (p.Ser1632=)
c.4878A>C (p.Ser1626=)
n.1390A>C
n.1727A>C
c.219+420A>C (n.219+420A>C)
c.325-956A>C
c.4887A>C (p.Ser1629=)
c.4572A>C (p.Ser1524=)
c.2469A>C (p.Ser823=)
c.4911A>C (p.Ser1637=)
c.4902A>C (p.Ser1634=)
c.4893A>C (p.Ser1631=)
c.3231A>C (p.Ser1077=)
Xg.108695341A>GCA517926108COL4A5c.4896A>G (p.Ser1632=)
c.4878A>G (p.Ser1626=)
n.1390A>G
n.1727A>G
c.219+420A>G (n.219+420A>G)
c.325-956A>G
c.4887A>G (p.Ser1629=)
c.4572A>G (p.Ser1524=)
c.2469A>G (p.Ser823=)
c.4911A>G (p.Ser1637=)
c.4902A>G (p.Ser1634=)
c.4893A>G (p.Ser1631=)
c.3231A>G (p.Ser1077=)
 ClinVar dbSNP
Xg.108695341A>TCA517926109COL4A5c.4896A>T (p.Ser1632=)
c.4878A>T (p.Ser1626=)
n.1390A>T
n.1727A>T
c.219+420A>T (n.219+420A>T)
c.325-956A>T
c.4887A>T (p.Ser1629=)
c.4572A>T (p.Ser1524=)
c.2469A>T (p.Ser823=)
c.4911A>T (p.Ser1637=)
c.4902A>T (p.Ser1634=)
c.4893A>T (p.Ser1631=)
c.3231A>T (p.Ser1077=)
Xg.108695342G>ACA414132795COL4A5c.4897G>A (p.Ala1633Thr)
c.4879G>A (p.Ala1627Thr)
n.1391G>A
n.1728G>A
c.219+421G>A (n.219+421G>A)
c.325-955G>A
c.4888G>A (p.Ala1630Thr)
c.4573G>A (p.Ala1525Thr)
c.2470G>A (p.Ala824Thr)
c.4912G>A (p.Ala1638Thr)
c.4903G>A (p.Ala1635Thr)
c.4894G>A (p.Ala1632Thr)
c.3232G>A (p.Ala1078Thr)
Xg.108695342G>CCA414132796COL4A5c.4897G>C (p.Ala1633Pro)
c.4879G>C (p.Ala1627Pro)
n.1391G>C
n.1728G>C
c.219+421G>C (n.219+421G>C)
c.325-955G>C
c.4888G>C (p.Ala1630Pro)
c.4573G>C (p.Ala1525Pro)
c.2470G>C (p.Ala824Pro)
c.4912G>C (p.Ala1638Pro)
c.4903G>C (p.Ala1635Pro)
c.4894G>C (p.Ala1632Pro)
c.3232G>C (p.Ala1078Pro)
Xg.108695342G>TCA414132797COL4A5c.4897G>T (p.Ala1633Ser)
c.4879G>T (p.Ala1627Ser)
n.1391G>T
n.1728G>T
c.219+421G>T (n.219+421G>T)
c.325-955G>T
c.4888G>T (p.Ala1630Ser)
c.4573G>T (p.Ala1525Ser)
c.2470G>T (p.Ala824Ser)
c.4912G>T (p.Ala1638Ser)
c.4903G>T (p.Ala1635Ser)
c.4894G>T (p.Ala1632Ser)
c.3232G>T (p.Ala1078Ser)
Xg.108695342_108695346delinsGCTCCCA2450721750COL4A5c.4897_4901delinsGCTCC (p.Ala1633=)
c.4879_4883delinsGCTCC (p.Ala1627=)
n.1391_1395delinsGCTCC
n.1728_1732delinsGCTCC
c.219+421_219+425delinsGCTCC (n.219+421_219+425delinsGCTCC)
c.325-955_325-951delinsGCTCC
c.4888_4892delinsGCTCC (p.Ala1630=)
c.4573_4577delinsGCTCC (p.Ala1525=)
c.2470_2474delinsGCTCC (p.Ala824=)
c.4912_4916delinsGCTCC (p.Ala1638=)
c.4903_4907delinsGCTCC (p.Ala1635=)
c.4894_4898delinsGCTCC (p.Ala1632=)
c.3232_3236delinsGCTCC (p.Ala1078=)
Xg.108695343C>ACA414132799COL4A5c.4898C>A (p.Ala1633Asp)
c.4880C>A (p.Ala1627Asp)
n.1392C>A
n.1729C>A
c.219+422C>A (n.219+422C>A)
c.325-954C>A
c.4889C>A (p.Ala1630Asp)
c.4574C>A (p.Ala1525Asp)
c.2471C>A (p.Ala824Asp)
c.4913C>A (p.Ala1638Asp)
c.4904C>A (p.Ala1635Asp)
c.4895C>A (p.Ala1632Asp)
c.3233C>A (p.Ala1078Asp)
Xg.108695343C=CA2450721751COL4A5c.4898C= (p.Ala1633=)
c.4880C= (p.Ala1627=)
n.1392C=
n.1729C=
c.219+422C= (n.219+422C=)
c.325-954C=
c.4889C= (p.Ala1630=)
c.4574C= (p.Ala1525=)
c.2471C= (p.Ala824=)
c.4913C= (p.Ala1638=)
c.4904C= (p.Ala1635=)
c.4895C= (p.Ala1632=)
c.3233C= (p.Ala1078=)
Xg.108695343C>GCA414132798COL4A5c.4898C>G (p.Ala1633Gly)
c.4880C>G (p.Ala1627Gly)
n.1392C>G
n.1729C>G
c.219+422C>G (n.219+422C>G)
c.325-954C>G
c.4889C>G (p.Ala1630Gly)
c.4574C>G (p.Ala1525Gly)
c.2471C>G (p.Ala824Gly)
c.4913C>G (p.Ala1638Gly)
c.4904C>G (p.Ala1635Gly)
c.4895C>G (p.Ala1632Gly)
c.3233C>G (p.Ala1078Gly)
Xg.108695343C>TCA334063356COL4A5c.4898C>T (p.Ala1633Val)
c.4880C>T (p.Ala1627Val)
n.1392C>T
n.1729C>T
c.219+422C>T (n.219+422C>T)
c.325-954C>T
c.4889C>T (p.Ala1630Val)
c.4574C>T (p.Ala1525Val)
c.2471C>T (p.Ala824Val)
c.4913C>T (p.Ala1638Val)
c.4904C>T (p.Ala1635Val)
c.4895C>T (p.Ala1632Val)
c.3233C>T (p.Ala1078Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108695345_108695348delCA10588942COL4A5c.4900_4903del (p.Pro1634SerfsTer24)
c.4882_4885del (p.Pro1628SerfsTer24)
n.1394_1397del
n.1731_1734del
c.219+424_219+427del (n.219+424_219+427del)
c.325-952_325-949del
c.4891_4894del (p.Pro1631SerfsTer24)
c.4576_4579del (p.Pro1526SerfsTer24)
c.2473_2476del (p.Pro825SerfsTer24)
c.4915_4918del (p.Pro1639SerfsTer24)
c.4906_4909del (p.Pro1636SerfsTer24)
c.4897_4900del (p.Pro1633SerfsTer24)
c.3235_3238del (p.Pro1079SerfsTer24)
 ClinVar dbSNP
Xg.108695344T>ACA517926110COL4A5c.4899T>A (p.Ala1633=)
c.4881T>A (p.Ala1627=)
n.1393T>A
n.1730T>A
c.219+423T>A (n.219+423T>A)
c.325-953T>A
c.4890T>A (p.Ala1630=)
c.4575T>A (p.Ala1525=)
c.2472T>A (p.Ala824=)
c.4914T>A (p.Ala1638=)
c.4905T>A (p.Ala1635=)
c.4896T>A (p.Ala1632=)
c.3234T>A (p.Ala1078=)
Xg.108695344T>CCA517926111COL4A5c.4899T>C (p.Ala1633=)
c.4881T>C (p.Ala1627=)
n.1393T>C
n.1730T>C
c.219+423T>C (n.219+423T>C)
c.325-953T>C
c.4890T>C (p.Ala1630=)
c.4575T>C (p.Ala1525=)
c.2472T>C (p.Ala824=)
c.4914T>C (p.Ala1638=)
c.4905T>C (p.Ala1635=)
c.4896T>C (p.Ala1632=)
c.3234T>C (p.Ala1078=)
Xg.108695344T>GCA517926112COL4A5c.4899T>G (p.Ala1633=)
c.4881T>G (p.Ala1627=)
n.1393T>G
n.1730T>G
c.219+423T>G (n.219+423T>G)
c.325-953T>G
c.4890T>G (p.Ala1630=)
c.4575T>G (p.Ala1525=)
c.2472T>G (p.Ala824=)
c.4914T>G (p.Ala1638=)
c.4905T>G (p.Ala1635=)
c.4896T>G (p.Ala1632=)
c.3234T>G (p.Ala1078=)
Xg.108695345C>ACA414132800COL4A5c.4900C>A (p.Pro1634Thr)
c.4882C>A (p.Pro1628Thr)
n.1394C>A
n.1731C>A
c.219+424C>A (n.219+424C>A)
c.325-952C>A
c.4891C>A (p.Pro1631Thr)
c.4576C>A (p.Pro1526Thr)
c.2473C>A (p.Pro825Thr)
c.4915C>A (p.Pro1639Thr)
c.4906C>A (p.Pro1636Thr)
c.4897C>A (p.Pro1633Thr)
c.3235C>A (p.Pro1079Thr)
Xg.108695345C>GCA414132801COL4A5c.4900C>G (p.Pro1634Ala)
c.4882C>G (p.Pro1628Ala)
n.1394C>G
n.1731C>G
c.219+424C>G (n.219+424C>G)
c.325-952C>G
c.4891C>G (p.Pro1631Ala)
c.4576C>G (p.Pro1526Ala)
c.2473C>G (p.Pro825Ala)
c.4915C>G (p.Pro1639Ala)
c.4906C>G (p.Pro1636Ala)
c.4897C>G (p.Pro1633Ala)
c.3235C>G (p.Pro1079Ala)
Xg.108695345C>TCA414132802COL4A5c.4900C>T (p.Pro1634Ser)
c.4882C>T (p.Pro1628Ser)
n.1394C>T
n.1731C>T
c.219+424C>T (n.219+424C>T)
c.325-952C>T
c.4891C>T (p.Pro1631Ser)
c.4576C>T (p.Pro1526Ser)
c.2473C>T (p.Pro825Ser)
c.4915C>T (p.Pro1639Ser)
c.4906C>T (p.Pro1636Ser)
c.4897C>T (p.Pro1633Ser)
c.3235C>T (p.Pro1079Ser)
 COSMIC COSMIC
Xg.108695346C>ACA414132803COL4A5c.4901C>A (p.Pro1634His)
c.4883C>A (p.Pro1628His)
n.1395C>A
n.1732C>A
c.219+425C>A (n.219+425C>A)
c.325-951C>A
c.4892C>A (p.Pro1631His)
c.4577C>A (p.Pro1526His)
c.2474C>A (p.Pro825His)
c.4916C>A (p.Pro1639His)
c.4907C>A (p.Pro1636His)
c.4898C>A (p.Pro1633His)
c.3236C>A (p.Pro1079His)
Xg.108695346C>GCA414132804COL4A5c.4901C>G (p.Pro1634Arg)
c.4883C>G (p.Pro1628Arg)
n.1395C>G
n.1732C>G
c.219+425C>G (n.219+425C>G)
c.325-951C>G
c.4892C>G (p.Pro1631Arg)
c.4577C>G (p.Pro1526Arg)
c.2474C>G (p.Pro825Arg)
c.4916C>G (p.Pro1639Arg)
c.4907C>G (p.Pro1636Arg)
c.4898C>G (p.Pro1633Arg)
c.3236C>G (p.Pro1079Arg)
Xg.108695346C>TCA414132805COL4A5c.4901C>T (p.Pro1634Leu)
c.4883C>T (p.Pro1628Leu)
n.1395C>T
n.1732C>T
c.219+425C>T (n.219+425C>T)
c.325-951C>T
c.4892C>T (p.Pro1631Leu)
c.4577C>T (p.Pro1526Leu)
c.2474C>T (p.Pro825Leu)
c.4916C>T (p.Pro1639Leu)
c.4907C>T (p.Pro1636Leu)
c.4898C>T (p.Pro1633Leu)
c.3236C>T (p.Pro1079Leu)
 COSMIC COSMIC
Xg.108695347C>ACA517926115COL4A5c.4902C>A (p.Pro1634=)
c.4884C>A (p.Pro1628=)
n.1396C>A
n.1733C>A
c.219+426C>A (n.219+426C>A)
c.325-950C>A
c.4893C>A (p.Pro1631=)
c.4578C>A (p.Pro1526=)
c.2475C>A (p.Pro825=)
c.4917C>A (p.Pro1639=)
c.4908C>A (p.Pro1636=)
c.4899C>A (p.Pro1633=)
c.3237C>A (p.Pro1079=)
Xg.108695347C=CA2450721752COL4A5c.4902C= (p.Pro1634=)
c.4884C= (p.Pro1628=)
n.1396C=
n.1733C=
c.219+426C= (n.219+426C=)
c.325-950C=
c.4893C= (p.Pro1631=)
c.4578C= (p.Pro1526=)
c.2475C= (p.Pro825=)
c.4917C= (p.Pro1639=)
c.4908C= (p.Pro1636=)
c.4899C= (p.Pro1633=)
c.3237C= (p.Pro1079=)
Xg.108695347C>GCA517926114COL4A5c.4902C>G (p.Pro1634=)
c.4884C>G (p.Pro1628=)
n.1396C>G
n.1733C>G
c.219+426C>G (n.219+426C>G)
c.325-950C>G
c.4893C>G (p.Pro1631=)
c.4578C>G (p.Pro1526=)
c.2475C>G (p.Pro825=)
c.4917C>G (p.Pro1639=)
c.4908C>G (p.Pro1636=)
c.4899C>G (p.Pro1633=)
c.3237C>G (p.Pro1079=)
Xg.108695347C>TCA517926113COL4A5c.4902C>T (p.Pro1634=)
c.4884C>T (p.Pro1628=)
n.1396C>T
n.1733C>T
c.219+426C>T (n.219+426C>T)
c.325-950C>T
c.4893C>T (p.Pro1631=)
c.4578C>T (p.Pro1526=)
c.2475C>T (p.Pro825=)
c.4917C>T (p.Pro1639=)
c.4908C>T (p.Pro1636=)
c.4899C>T (p.Pro1633=)
c.3237C>T (p.Pro1079=)
 ClinVar dbSNP gnomAD v4
Xg.108695348T>ACA414132806COL4A5c.4903T>A (p.Phe1635Ile)
c.4885T>A (p.Phe1629Ile)
n.1397T>A
n.1734T>A
c.219+427T>A (n.219+427T>A)
c.325-949T>A
c.4894T>A (p.Phe1632Ile)
c.4579T>A (p.Phe1527Ile)
c.2476T>A (p.Phe826Ile)
c.4918T>A (p.Phe1640Ile)
c.4909T>A (p.Phe1637Ile)
c.4900T>A (p.Phe1634Ile)
c.3238T>A (p.Phe1080Ile)
Xg.108695348T>CCA414132807COL4A5c.4903T>C (p.Phe1635Leu)
c.4885T>C (p.Phe1629Leu)
n.1397T>C
n.1734T>C
c.219+427T>C (n.219+427T>C)
c.325-949T>C
c.4894T>C (p.Phe1632Leu)
c.4579T>C (p.Phe1527Leu)
c.2476T>C (p.Phe826Leu)
c.4918T>C (p.Phe1640Leu)
c.4909T>C (p.Phe1637Leu)
c.4900T>C (p.Phe1634Leu)
c.3238T>C (p.Phe1080Leu)
Xg.108695348T>GCA414132808COL4A5c.4903T>G (p.Phe1635Val)
c.4885T>G (p.Phe1629Val)
n.1397T>G
n.1734T>G
c.219+427T>G (n.219+427T>G)
c.325-949T>G
c.4894T>G (p.Phe1632Val)
c.4579T>G (p.Phe1527Val)
c.2476T>G (p.Phe826Val)
c.4918T>G (p.Phe1640Val)
c.4909T>G (p.Phe1637Val)
c.4900T>G (p.Phe1634Val)
c.3238T>G (p.Phe1080Val)
Xg.108695349T>ACA414132809COL4A5c.4904T>A (p.Phe1635Tyr)
c.4886T>A (p.Phe1629Tyr)
n.1398T>A
n.1735T>A
c.219+428T>A (n.219+428T>A)
c.325-948T>A
c.4895T>A (p.Phe1632Tyr)
c.4580T>A (p.Phe1527Tyr)
c.2477T>A (p.Phe826Tyr)
c.4919T>A (p.Phe1640Tyr)
c.4910T>A (p.Phe1637Tyr)
c.4901T>A (p.Phe1634Tyr)
c.3239T>A (p.Phe1080Tyr)
Xg.108695349T>CCA414132810COL4A5c.4904T>C (p.Phe1635Ser)
c.4886T>C (p.Phe1629Ser)
n.1398T>C
n.1735T>C
c.219+428T>C (n.219+428T>C)
c.325-948T>C
c.4895T>C (p.Phe1632Ser)
c.4580T>C (p.Phe1527Ser)
c.2477T>C (p.Phe826Ser)
c.4919T>C (p.Phe1640Ser)
c.4910T>C (p.Phe1637Ser)
c.4901T>C (p.Phe1634Ser)
c.3239T>C (p.Phe1080Ser)
Xg.108695349T>GCA414132811COL4A5c.4904T>G (p.Phe1635Cys)
c.4886T>G (p.Phe1629Cys)
n.1398T>G
n.1735T>G
c.219+428T>G (n.219+428T>G)
c.325-948T>G
c.4895T>G (p.Phe1632Cys)
c.4580T>G (p.Phe1527Cys)
c.2477T>G (p.Phe826Cys)
c.4919T>G (p.Phe1640Cys)
c.4910T>G (p.Phe1637Cys)
c.4901T>G (p.Phe1634Cys)
c.3239T>G (p.Phe1080Cys)
Xg.108695350C>ACA414132813COL4A5c.4905C>A (p.Phe1635Leu)
c.4887C>A (p.Phe1629Leu)
n.1399C>A
n.1736C>A
c.219+429C>A (n.219+429C>A)
c.325-947C>A
c.4896C>A (p.Phe1632Leu)
c.4581C>A (p.Phe1527Leu)
c.2478C>A (p.Phe826Leu)
c.4920C>A (p.Phe1640Leu)
c.4911C>A (p.Phe1637Leu)
c.4902C>A (p.Phe1634Leu)
c.3240C>A (p.Phe1080Leu)
Xg.108695350C=CA2450721753COL4A5c.4905C= (p.Phe1635=)
c.4887C= (p.Phe1629=)
n.1399C=
n.1736C=
c.219+429C= (n.219+429C=)
c.325-947C=
c.4896C= (p.Phe1632=)
c.4581C= (p.Phe1527=)
c.2478C= (p.Phe826=)
c.4920C= (p.Phe1640=)
c.4911C= (p.Phe1637=)
c.4902C= (p.Phe1634=)
c.3240C= (p.Phe1080=)
Xg.108695350C>GCA414132812COL4A5c.4905C>G (p.Phe1635Leu)
c.4887C>G (p.Phe1629Leu)
n.1399C>G
n.1736C>G
c.219+429C>G (n.219+429C>G)
c.325-947C>G
c.4896C>G (p.Phe1632Leu)
c.4581C>G (p.Phe1527Leu)
c.2478C>G (p.Phe826Leu)
c.4920C>G (p.Phe1640Leu)
c.4911C>G (p.Phe1637Leu)
c.4902C>G (p.Phe1634Leu)
c.3240C>G (p.Phe1080Leu)
Xg.108695350C>TCA517926116COL4A5c.4905C>T (p.Phe1635=)
c.4887C>T (p.Phe1629=)
n.1399C>T
n.1736C>T
c.219+429C>T (n.219+429C>T)
c.325-947C>T
c.4896C>T (p.Phe1632=)
c.4581C>T (p.Phe1527=)
c.2478C>T (p.Phe826=)
c.4920C>T (p.Phe1640=)
c.4911C>T (p.Phe1637=)
c.4902C>T (p.Phe1634=)
c.3240C>T (p.Phe1080=)
Xg.108695352_108695413delCA2695235252COL4A5c.4907_4968del (p.Ile1636AsnfsTer10)
c.4889_4950del (p.Ile1630AsnfsTer10)
n.1401_1462del
n.1738_1799del
c.219+431_219+492del (n.219+431_219+492del)
c.325-945_325-884del
c.4898_4959del (p.Ile1633AsnfsTer10)
c.4583_4644del (p.Ile1528AsnfsTer10)
c.2480_2541del (p.Ile827AsnfsTer10)
c.4922_4983del (p.Ile1641AsnfsTer10)
c.4913_4974del (p.Ile1638AsnfsTer10)
c.4904_4965del (p.Ile1635AsnfsTer10)
c.3242_3303del (p.Ile1081AsnfsTer10)
Xg.108695351A>CCA414132814COL4A5c.4906A>C (p.Ile1636Leu)
c.4888A>C (p.Ile1630Leu)
n.1400A>C
n.1737A>C
c.219+430A>C (n.219+430A>C)
c.325-946A>C
c.4897A>C (p.Ile1633Leu)
c.4582A>C (p.Ile1528Leu)
c.2479A>C (p.Ile827Leu)
c.4921A>C (p.Ile1641Leu)
c.4912A>C (p.Ile1638Leu)
c.4903A>C (p.Ile1635Leu)
c.3241A>C (p.Ile1081Leu)
Xg.108695351A>GCA414132815COL4A5c.4906A>G (p.Ile1636Val)
c.4888A>G (p.Ile1630Val)
n.1400A>G
n.1737A>G
c.219+430A>G (n.219+430A>G)
c.325-946A>G
c.4897A>G (p.Ile1633Val)
c.4582A>G (p.Ile1528Val)
c.2479A>G (p.Ile827Val)
c.4921A>G (p.Ile1641Val)
c.4912A>G (p.Ile1638Val)
c.4903A>G (p.Ile1635Val)
c.3241A>G (p.Ile1081Val)
Xg.108695351A>TCA414132816COL4A5c.4906A>T (p.Ile1636Phe)
c.4888A>T (p.Ile1630Phe)
n.1400A>T
n.1737A>T
c.219+430A>T (n.219+430A>T)
c.325-946A>T
c.4897A>T (p.Ile1633Phe)
c.4582A>T (p.Ile1528Phe)
c.2479A>T (p.Ile827Phe)
c.4921A>T (p.Ile1641Phe)
c.4912A>T (p.Ile1638Phe)
c.4903A>T (p.Ile1635Phe)
c.3241A>T (p.Ile1081Phe)
Xg.108695351dupCA658799837COL4A5c.4906dup (p.Ile1636AsnfsTer10)
c.4888dup (p.Ile1630AsnfsTer10)
n.1400dup
n.1737dup
c.219+430dup (n.219+430dup)
c.325-946dup
c.4897dup (p.Ile1633AsnfsTer10)
c.4582dup (p.Ile1528AsnfsTer10)
c.2479dup (p.Ile827AsnfsTer10)
c.4921dup (p.Ile1641AsnfsTer10)
c.4912dup (p.Ile1638AsnfsTer10)
c.4903dup (p.Ile1635AsnfsTer10)
c.3241dup (p.Ile1081AsnfsTer10)
 ClinVar dbSNP
Xg.108695352T>ACA414132817COL4A5c.4907T>A (p.Ile1636Asn)
c.4889T>A (p.Ile1630Asn)
n.1401T>A
n.1738T>A
c.219+431T>A (n.219+431T>A)
c.325-945T>A
c.4898T>A (p.Ile1633Asn)
c.4583T>A (p.Ile1528Asn)
c.2480T>A (p.Ile827Asn)
c.4922T>A (p.Ile1641Asn)
c.4913T>A (p.Ile1638Asn)
c.4904T>A (p.Ile1635Asn)
c.3242T>A (p.Ile1081Asn)
Xg.108695352T>CCA414132818COL4A5c.4907T>C (p.Ile1636Thr)
c.4889T>C (p.Ile1630Thr)
n.1401T>C
n.1738T>C
c.219+431T>C (n.219+431T>C)
c.325-945T>C
c.4898T>C (p.Ile1633Thr)
c.4583T>C (p.Ile1528Thr)
c.2480T>C (p.Ile827Thr)
c.4922T>C (p.Ile1641Thr)
c.4913T>C (p.Ile1638Thr)
c.4904T>C (p.Ile1635Thr)
c.3242T>C (p.Ile1081Thr)
Xg.108695352T>GCA414132819COL4A5c.4907T>G (p.Ile1636Ser)
c.4889T>G (p.Ile1630Ser)
n.1401T>G
n.1738T>G
c.219+431T>G (n.219+431T>G)
c.325-945T>G
c.4898T>G (p.Ile1633Ser)
c.4583T>G (p.Ile1528Ser)
c.2480T>G (p.Ile827Ser)
c.4922T>G (p.Ile1641Ser)
c.4913T>G (p.Ile1638Ser)
c.4904T>G (p.Ile1635Ser)
c.3242T>G (p.Ile1081Ser)

Number of alleles fetched