Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227007384_227007388delCA2586965581COL4A4c.615_619del (p.Glu206ProfsTer17)
c.5013_5017del (p.Glu1672ProfsTer17)
c.4458_4462del (p.Glu1487ProfsTer17)
c.4824_4828del (p.Glu1609ProfsTer17)
c.4809+633_4809+637del (n.4809+633_4809+637del)
c.4216+14663_4216+14667del (n.4216+14663_4216+14667del)
c.4932_4936del (p.Glu1645ProfsTer17)
c.4905_4909del (p.Glu1636ProfsTer17)
c.3339_3343del (p.Glu1114ProfsTer17)
n.5119+633_5119+637del
n.4526+14663_4526+14667del
c.4896_4900del (p.Glu1633ProfsTer17)
n.5135+633_5135+637del
n.5085_5089del
n.4542+14663_4542+14667del
 gnomAD v4
2g.227007386T>ACA351139984COL4A4c.614A>T (p.Lys205Ile)
c.5012A>T (p.Lys1671Ile)
c.4457A>T (p.Lys1486Ile)
c.4823A>T (p.Lys1608Ile)
c.4809+632A>T (n.4809+632A>T)
c.4216+14662A>T (n.4216+14662A>T)
c.4931A>T (p.Lys1644Ile)
c.4904A>T (p.Lys1635Ile)
c.3338A>T (p.Lys1113Ile)
n.5119+632A>T
n.4526+14662A>T
c.4895A>T (p.Lys1632Ile)
n.5135+632A>T
n.5084A>T
n.4542+14662A>T
2g.227007386T>CCA351139985COL4A4c.614A>G (p.Lys205Arg)
c.5012A>G (p.Lys1671Arg)
c.4457A>G (p.Lys1486Arg)
c.4823A>G (p.Lys1608Arg)
c.4809+632A>G (n.4809+632A>G)
c.4216+14662A>G (n.4216+14662A>G)
c.4931A>G (p.Lys1644Arg)
c.4904A>G (p.Lys1635Arg)
c.3338A>G (p.Lys1113Arg)
n.5119+632A>G
n.4526+14662A>G
c.4895A>G (p.Lys1632Arg)
n.5135+632A>G
n.5084A>G
n.4542+14662A>G
2g.227007386T>GCA351139986COL4A4c.614A>C (p.Lys205Thr)
c.5012A>C (p.Lys1671Thr)
c.4457A>C (p.Lys1486Thr)
c.4823A>C (p.Lys1608Thr)
c.4809+632A>C (n.4809+632A>C)
c.4216+14662A>C (n.4216+14662A>C)
c.4931A>C (p.Lys1644Thr)
c.4904A>C (p.Lys1635Thr)
c.3338A>C (p.Lys1113Thr)
n.5119+632A>C
n.4526+14662A>C
c.4895A>C (p.Lys1632Thr)
n.5135+632A>C
n.5084A>C
n.4542+14662A>C
2g.227007387T>ACA351139987COL4A4c.613A>T (p.Lys205Ter)
c.5011A>T (p.Lys1671Ter)
c.4456A>T (p.Lys1486Ter)
c.4822A>T (p.Lys1608Ter)
c.4809+631A>T (n.4809+631A>T)
c.4216+14661A>T (n.4216+14661A>T)
c.4930A>T (p.Lys1644Ter)
c.4903A>T (p.Lys1635Ter)
c.3337A>T (p.Lys1113Ter)
n.5119+631A>T
n.4526+14661A>T
c.4894A>T (p.Lys1632Ter)
n.5135+631A>T
n.5083A>T
n.4542+14661A>T
2g.227007387T>CCA351139988COL4A4c.613A>G (p.Lys205Glu)
c.5011A>G (p.Lys1671Glu)
c.4456A>G (p.Lys1486Glu)
c.4822A>G (p.Lys1608Glu)
c.4809+631A>G (n.4809+631A>G)
c.4216+14661A>G (n.4216+14661A>G)
c.4930A>G (p.Lys1644Glu)
c.4903A>G (p.Lys1635Glu)
c.3337A>G (p.Lys1113Glu)
n.5119+631A>G
n.4526+14661A>G
c.4894A>G (p.Lys1632Glu)
n.5135+631A>G
n.5083A>G
n.4542+14661A>G
2g.227007387T>GCA351139989COL4A4c.613A>C (p.Lys205Gln)
c.5011A>C (p.Lys1671Gln)
c.4456A>C (p.Lys1486Gln)
c.4822A>C (p.Lys1608Gln)
c.4809+631A>C (n.4809+631A>C)
c.4216+14661A>C (n.4216+14661A>C)
c.4930A>C (p.Lys1644Gln)
c.4903A>C (p.Lys1635Gln)
c.3337A>C (p.Lys1113Gln)
n.5119+631A>C
n.4526+14661A>C
c.4894A>C (p.Lys1632Gln)
n.5135+631A>C
n.5083A>C
n.4542+14661A>C
2g.227007388T>ACA351139990COL4A4c.612A>T (p.Leu204Phe)
c.5010A>T (p.Leu1670Phe)
c.4455A>T (p.Leu1485Phe)
c.4821A>T (p.Leu1607Phe)
c.4809+630A>T (n.4809+630A>T)
c.4216+14660A>T (n.4216+14660A>T)
c.4929A>T (p.Leu1643Phe)
c.4902A>T (p.Leu1634Phe)
c.3336A>T (p.Leu1112Phe)
n.5119+630A>T
n.4526+14660A>T
c.4893A>T (p.Leu1631Phe)
n.5135+630A>T
n.5082A>T
n.4542+14660A>T
2g.227007388T>CCA431671725COL4A4c.612A>G (p.Leu204=)
c.5010A>G (p.Leu1670=)
c.4455A>G (p.Leu1485=)
c.4821A>G (p.Leu1607=)
c.4809+630A>G (n.4809+630A>G)
c.4216+14660A>G (n.4216+14660A>G)
c.4929A>G (p.Leu1643=)
c.4902A>G (p.Leu1634=)
c.3336A>G (p.Leu1112=)
n.5119+630A>G
n.4526+14660A>G
c.4893A>G (p.Leu1631=)
n.5135+630A>G
n.5082A>G
n.4542+14660A>G
2g.227007388T>GCA351139991COL4A4c.612A>C (p.Leu204Phe)
c.5010A>C (p.Leu1670Phe)
c.4455A>C (p.Leu1485Phe)
c.4821A>C (p.Leu1607Phe)
c.4809+630A>C (n.4809+630A>C)
c.4216+14660A>C (n.4216+14660A>C)
c.4929A>C (p.Leu1643Phe)
c.4902A>C (p.Leu1634Phe)
c.3336A>C (p.Leu1112Phe)
n.5119+630A>C
n.4526+14660A>C
c.4893A>C (p.Leu1631Phe)
n.5135+630A>C
n.5082A>C
n.4542+14660A>C
2g.227007389A>CCA351139994COL4A4c.611T>G (p.Leu204Ter)
c.5009T>G (p.Leu1670Ter)
c.4454T>G (p.Leu1485Ter)
c.4820T>G (p.Leu1607Ter)
c.4809+629T>G (n.4809+629T>G)
c.4216+14659T>G (n.4216+14659T>G)
c.4928T>G (p.Leu1643Ter)
c.4901T>G (p.Leu1634Ter)
c.3335T>G (p.Leu1112Ter)
n.5119+629T>G
n.4526+14659T>G
c.4892T>G (p.Leu1631Ter)
n.5135+629T>G
n.5081T>G
n.4542+14659T>G
2g.227007389A>GCA351139993COL4A4c.611T>C (p.Leu204Ser)
c.5009T>C (p.Leu1670Ser)
c.4454T>C (p.Leu1485Ser)
c.4820T>C (p.Leu1607Ser)
c.4809+629T>C (n.4809+629T>C)
c.4216+14659T>C (n.4216+14659T>C)
c.4928T>C (p.Leu1643Ser)
c.4901T>C (p.Leu1634Ser)
c.3335T>C (p.Leu1112Ser)
n.5119+629T>C
n.4526+14659T>C
c.4892T>C (p.Leu1631Ser)
n.5135+629T>C
n.5081T>C
n.4542+14659T>C
2g.227007389A>TCA351139992COL4A4c.611T>A (p.Leu204Ter)
c.5009T>A (p.Leu1670Ter)
c.4454T>A (p.Leu1485Ter)
c.4820T>A (p.Leu1607Ter)
c.4809+629T>A (n.4809+629T>A)
c.4216+14659T>A (n.4216+14659T>A)
c.4928T>A (p.Leu1643Ter)
c.4901T>A (p.Leu1634Ter)
c.3335T>A (p.Leu1112Ter)
n.5119+629T>A
n.4526+14659T>A
c.4892T>A (p.Leu1631Ter)
n.5135+629T>A
n.5081T>A
n.4542+14659T>A
2g.227007390A>CCA351139995COL4A4c.610T>G (p.Leu204Val)
c.5008T>G (p.Leu1670Val)
c.4453T>G (p.Leu1485Val)
c.4819T>G (p.Leu1607Val)
c.4809+628T>G (n.4809+628T>G)
c.4216+14658T>G (n.4216+14658T>G)
c.4927T>G (p.Leu1643Val)
c.4900T>G (p.Leu1634Val)
c.3334T>G (p.Leu1112Val)
n.5119+628T>G
n.4526+14658T>G
c.4891T>G (p.Leu1631Val)
n.5135+628T>G
n.5080T>G
n.4542+14658T>G
2g.227007390A>GCA431671728COL4A4c.610T>C (p.Leu204=)
c.5008T>C (p.Leu1670=)
c.4453T>C (p.Leu1485=)
c.4819T>C (p.Leu1607=)
c.4809+628T>C (n.4809+628T>C)
c.4216+14658T>C (n.4216+14658T>C)
c.4927T>C (p.Leu1643=)
c.4900T>C (p.Leu1634=)
c.3334T>C (p.Leu1112=)
n.5119+628T>C
n.4526+14658T>C
c.4891T>C (p.Leu1631=)
n.5135+628T>C
n.5080T>C
n.4542+14658T>C
2g.227007390A>TCA351139996COL4A4c.610T>A (p.Leu204Ile)
c.5008T>A (p.Leu1670Ile)
c.4453T>A (p.Leu1485Ile)
c.4819T>A (p.Leu1607Ile)
c.4809+628T>A (n.4809+628T>A)
c.4216+14658T>A (n.4216+14658T>A)
c.4927T>A (p.Leu1643Ile)
c.4900T>A (p.Leu1634Ile)
c.3334T>A (p.Leu1112Ile)
n.5119+628T>A
n.4526+14658T>A
c.4891T>A (p.Leu1631Ile)
n.5135+628T>A
n.5080T>A
n.4542+14658T>A
2g.227007390_227007391delinsAGCA1332723565COL4A4c.609_610delinsCT (p.Thr203=)
c.5007_5008delinsCT (p.Thr1669=)
c.4452_4453delinsCT (p.Thr1484=)
c.4818_4819delinsCT (p.Thr1606=)
c.4809+627_4809+628delinsCT (n.4809+627_4809+628delinsCT)
c.4216+14657_4216+14658delinsCT (n.4216+14657_4216+14658delinsCT)
c.4926_4927delinsCT (p.Thr1642=)
c.4899_4900delinsCT (p.Thr1633=)
c.3333_3334delinsCT (p.Thr1111=)
n.5119+627_5119+628delinsCT
n.4526+14657_4526+14658delinsCT
c.4890_4891delinsCT (p.Thr1630=)
n.5135+627_5135+628delinsCT
n.5079_5080delinsCT
n.4542+14657_4542+14658delinsCT
2g.227007391G>ACA431671731COL4A4c.609C>T (p.Thr203=)
c.5007C>T (p.Thr1669=)
c.4452C>T (p.Thr1484=)
c.4818C>T (p.Thr1606=)
c.4809+627C>T (n.4809+627C>T)
c.4216+14657C>T (n.4216+14657C>T)
c.4926C>T (p.Thr1642=)
c.4899C>T (p.Thr1633=)
c.3333C>T (p.Thr1111=)
n.5119+627C>T
n.4526+14657C>T
c.4890C>T (p.Thr1630=)
n.5135+627C>T
n.5079C>T
n.4542+14657C>T
2g.227007391G>CCA431671730COL4A4c.609C>G (p.Thr203=)
c.5007C>G (p.Thr1669=)
c.4452C>G (p.Thr1484=)
c.4818C>G (p.Thr1606=)
c.4809+627C>G (n.4809+627C>G)
c.4216+14657C>G (n.4216+14657C>G)
c.4926C>G (p.Thr1642=)
c.4899C>G (p.Thr1633=)
c.3333C>G (p.Thr1111=)
n.5119+627C>G
n.4526+14657C>G
c.4890C>G (p.Thr1630=)
n.5135+627C>G
n.5079C>G
n.4542+14657C>G
2g.227007391G>TCA431671729COL4A4c.609C>A (p.Thr203=)
c.5007C>A (p.Thr1669=)
c.4452C>A (p.Thr1484=)
c.4818C>A (p.Thr1606=)
c.4809+627C>A (n.4809+627C>A)
c.4216+14657C>A (n.4216+14657C>A)
c.4926C>A (p.Thr1642=)
c.4899C>A (p.Thr1633=)
c.3333C>A (p.Thr1111=)
n.5119+627C>A
n.4526+14657C>A
c.4890C>A (p.Thr1630=)
n.5135+627C>A
n.5079C>A
n.4542+14657C>A
2g.227007392delCA540312172COL4A4c.609del (p.Leu204Ter)
c.5007del (p.Leu1670Ter)
c.4452del (p.Leu1485Ter)
c.4818del (p.Leu1607Ter)
c.4809+627del (n.4809+627del)
c.4216+14657del (n.4216+14657del)
c.4926del (p.Leu1643Ter)
c.4899del (p.Leu1634Ter)
c.3333del (p.Leu1112Ter)
n.5119+627del
n.4526+14657del
c.4890del (p.Leu1631Ter)
n.5135+627del
n.5079del
n.4542+14657del
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227007392G>ACA351139997COL4A4c.608C>T (p.Thr203Ile)
c.5006C>T (p.Thr1669Ile)
c.4451C>T (p.Thr1484Ile)
c.4817C>T (p.Thr1606Ile)
c.4809+626C>T (n.4809+626C>T)
c.4216+14656C>T (n.4216+14656C>T)
c.4925C>T (p.Thr1642Ile)
c.4898C>T (p.Thr1633Ile)
c.3332C>T (p.Thr1111Ile)
n.5119+626C>T
n.4526+14656C>T
c.4889C>T (p.Thr1630Ile)
n.5135+626C>T
n.5078C>T
n.4542+14656C>T
 dbSNP
2g.227007392G>CCA351139998COL4A4c.608C>G (p.Thr203Ser)
c.5006C>G (p.Thr1669Ser)
c.4451C>G (p.Thr1484Ser)
c.4817C>G (p.Thr1606Ser)
c.4809+626C>G (n.4809+626C>G)
c.4216+14656C>G (n.4216+14656C>G)
c.4925C>G (p.Thr1642Ser)
c.4898C>G (p.Thr1633Ser)
c.3332C>G (p.Thr1111Ser)
n.5119+626C>G
n.4526+14656C>G
c.4889C>G (p.Thr1630Ser)
n.5135+626C>G
n.5078C>G
n.4542+14656C>G
 dbSNP
2g.227007392G=CA1332723566COL4A4c.608C= (p.Thr203=)
c.5006C= (p.Thr1669=)
c.4451C= (p.Thr1484=)
c.4817C= (p.Thr1606=)
c.4809+626C= (n.4809+626C=)
c.4216+14656C= (n.4216+14656C=)
c.4925C= (p.Thr1642=)
c.4898C= (p.Thr1633=)
c.3332C= (p.Thr1111=)
n.5119+626C=
n.4526+14656C=
c.4889C= (p.Thr1630=)
n.5135+626C=
n.5078C=
n.4542+14656C=
2g.227007392G>TCA351139999COL4A4c.608C>A (p.Thr203Asn)
c.5006C>A (p.Thr1669Asn)
c.4451C>A (p.Thr1484Asn)
c.4817C>A (p.Thr1606Asn)
c.4809+626C>A (n.4809+626C>A)
c.4216+14656C>A (n.4216+14656C>A)
c.4925C>A (p.Thr1642Asn)
c.4898C>A (p.Thr1633Asn)
c.3332C>A (p.Thr1111Asn)
n.5119+626C>A
n.4526+14656C>A
c.4889C>A (p.Thr1630Asn)
n.5135+626C>A
n.5078C>A
n.4542+14656C>A
 gnomAD v4
2g.227007393T>ACA351140000COL4A4c.607A>T (p.Thr203Ser)
c.5005A>T (p.Thr1669Ser)
c.4450A>T (p.Thr1484Ser)
c.4816A>T (p.Thr1606Ser)
c.4809+625A>T (n.4809+625A>T)
c.4216+14655A>T (n.4216+14655A>T)
c.4924A>T (p.Thr1642Ser)
c.4897A>T (p.Thr1633Ser)
c.3331A>T (p.Thr1111Ser)
n.5119+625A>T
n.4526+14655A>T
c.4888A>T (p.Thr1630Ser)
n.5135+625A>T
n.5077A>T
n.4542+14655A>T
 dbSNP
2g.227007393T>CCA67238234COL4A4c.607A>G (p.Thr203Ala)
c.5005A>G (p.Thr1669Ala)
c.4450A>G (p.Thr1484Ala)
c.4816A>G (p.Thr1606Ala)
c.4809+625A>G (n.4809+625A>G)
c.4216+14655A>G (n.4216+14655A>G)
c.4924A>G (p.Thr1642Ala)
c.4897A>G (p.Thr1633Ala)
c.3331A>G (p.Thr1111Ala)
n.5119+625A>G
n.4526+14655A>G
c.4888A>G (p.Thr1630Ala)
n.5135+625A>G
n.5077A>G
n.4542+14655A>G
 dbSNP gnomAD v4
2g.227007393T>GCA351140001COL4A4c.607A>C (p.Thr203Pro)
c.5005A>C (p.Thr1669Pro)
c.4450A>C (p.Thr1484Pro)
c.4816A>C (p.Thr1606Pro)
c.4809+625A>C (n.4809+625A>C)
c.4216+14655A>C (n.4216+14655A>C)
c.4924A>C (p.Thr1642Pro)
c.4897A>C (p.Thr1633Pro)
c.3331A>C (p.Thr1111Pro)
n.5119+625A>C
n.4526+14655A>C
c.4888A>C (p.Thr1630Pro)
n.5135+625A>C
n.5077A>C
n.4542+14655A>C
2g.227007393T=CA1332723567COL4A4c.607A= (p.Thr203=)
c.5005A= (p.Thr1669=)
c.4450A= (p.Thr1484=)
c.4816A= (p.Thr1606=)
c.4809+625A= (n.4809+625A=)
c.4216+14655A= (n.4216+14655A=)
c.4924A= (p.Thr1642=)
c.4897A= (p.Thr1633=)
c.3331A= (p.Thr1111=)
n.5119+625A=
n.4526+14655A=
c.4888A= (p.Thr1630=)
n.5135+625A=
n.5077A=
n.4542+14655A=
2g.227007394G>ACA431671732COL4A4c.606C>T (p.Asp202=)
c.5004C>T (p.Asp1668=)
c.4449C>T (p.Asp1483=)
c.4815C>T (p.Asp1605=)
c.4809+624C>T (n.4809+624C>T)
c.4216+14654C>T (n.4216+14654C>T)
c.4923C>T (p.Asp1641=)
c.4896C>T (p.Asp1632=)
c.3330C>T (p.Asp1110=)
n.5119+624C>T
n.4526+14654C>T
c.4887C>T (p.Asp1629=)
n.5135+624C>T
n.5076C>T
n.4542+14654C>T
 ClinVar dbSNP gnomAD v4
2g.227007394G>CCA351140002COL4A4c.606C>G (p.Asp202Glu)
c.5004C>G (p.Asp1668Glu)
c.4449C>G (p.Asp1483Glu)
c.4815C>G (p.Asp1605Glu)
c.4809+624C>G (n.4809+624C>G)
c.4216+14654C>G (n.4216+14654C>G)
c.4923C>G (p.Asp1641Glu)
c.4896C>G (p.Asp1632Glu)
c.3330C>G (p.Asp1110Glu)
n.5119+624C>G
n.4526+14654C>G
c.4887C>G (p.Asp1629Glu)
n.5135+624C>G
n.5076C>G
n.4542+14654C>G
2g.227007394G>TCA351140003COL4A4c.606C>A (p.Asp202Glu)
c.5004C>A (p.Asp1668Glu)
c.4449C>A (p.Asp1483Glu)
c.4815C>A (p.Asp1605Glu)
c.4809+624C>A (n.4809+624C>A)
c.4216+14654C>A (n.4216+14654C>A)
c.4923C>A (p.Asp1641Glu)
c.4896C>A (p.Asp1632Glu)
c.3330C>A (p.Asp1110Glu)
n.5119+624C>A
n.4526+14654C>A
c.4887C>A (p.Asp1629Glu)
n.5135+624C>A
n.5076C>A
n.4542+14654C>A
2g.227007395T>ACA351140004COL4A4c.605A>T (p.Asp202Val)
c.5003A>T (p.Asp1668Val)
c.4448A>T (p.Asp1483Val)
c.4814A>T (p.Asp1605Val)
c.4809+623A>T (n.4809+623A>T)
c.4216+14653A>T (n.4216+14653A>T)
c.4922A>T (p.Asp1641Val)
c.4895A>T (p.Asp1632Val)
c.3329A>T (p.Asp1110Val)
n.5119+623A>T
n.4526+14653A>T
c.4886A>T (p.Asp1629Val)
n.5135+623A>T
n.5075A>T
n.4542+14653A>T
2g.227007395T>CCA351140005COL4A4c.605A>G (p.Asp202Gly)
c.5003A>G (p.Asp1668Gly)
c.4448A>G (p.Asp1483Gly)
c.4814A>G (p.Asp1605Gly)
c.4809+623A>G (n.4809+623A>G)
c.4216+14653A>G (n.4216+14653A>G)
c.4922A>G (p.Asp1641Gly)
c.4895A>G (p.Asp1632Gly)
c.3329A>G (p.Asp1110Gly)
n.5119+623A>G
n.4526+14653A>G
c.4886A>G (p.Asp1629Gly)
n.5135+623A>G
n.5075A>G
n.4542+14653A>G
2g.227007395T>GCA351140006COL4A4c.605A>C (p.Asp202Ala)
c.5003A>C (p.Asp1668Ala)
c.4448A>C (p.Asp1483Ala)
c.4814A>C (p.Asp1605Ala)
c.4809+623A>C (n.4809+623A>C)
c.4216+14653A>C (n.4216+14653A>C)
c.4922A>C (p.Asp1641Ala)
c.4895A>C (p.Asp1632Ala)
c.3329A>C (p.Asp1110Ala)
n.5119+623A>C
n.4526+14653A>C
c.4886A>C (p.Asp1629Ala)
n.5135+623A>C
n.5075A>C
n.4542+14653A>C
2g.227007396C>ACA351140008COL4A4c.604G>T (p.Asp202Tyr)
c.5002G>T (p.Asp1668Tyr)
c.4447G>T (p.Asp1483Tyr)
c.4813G>T (p.Asp1605Tyr)
c.4809+622G>T (n.4809+622G>T)
c.4216+14652G>T (n.4216+14652G>T)
c.4921G>T (p.Asp1641Tyr)
c.4894G>T (p.Asp1632Tyr)
c.3328G>T (p.Asp1110Tyr)
n.5119+622G>T
n.4526+14652G>T
c.4885G>T (p.Asp1629Tyr)
n.5135+622G>T
n.5074G>T
n.4542+14652G>T
2g.227007396C=CA1332723568COL4A4c.604G= (p.Asp202=)
c.5002G= (p.Asp1668=)
c.4447G= (p.Asp1483=)
c.4813G= (p.Asp1605=)
c.4809+622G= (n.4809+622G=)
c.4216+14652G= (n.4216+14652G=)
c.4921G= (p.Asp1641=)
c.4894G= (p.Asp1632=)
c.3328G= (p.Asp1110=)
n.5119+622G=
n.4526+14652G=
c.4885G= (p.Asp1629=)
n.5135+622G=
n.5074G=
n.4542+14652G=
2g.227007396C>GCA2143999COL4A4c.604G>C (p.Asp202His)
c.5002G>C (p.Asp1668His)
c.4447G>C (p.Asp1483His)
c.4813G>C (p.Asp1605His)
c.4809+622G>C (n.4809+622G>C)
c.4216+14652G>C (n.4216+14652G>C)
c.4921G>C (p.Asp1641His)
c.4894G>C (p.Asp1632His)
c.3328G>C (p.Asp1110His)
n.5119+622G>C
n.4526+14652G>C
c.4885G>C (p.Asp1629His)
n.5135+622G>C
n.5074G>C
n.4542+14652G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227007396C>TCA351140007COL4A4c.604G>A (p.Asp202Asn)
c.5002G>A (p.Asp1668Asn)
c.4447G>A (p.Asp1483Asn)
c.4813G>A (p.Asp1605Asn)
c.4809+622G>A (n.4809+622G>A)
c.4216+14652G>A (n.4216+14652G>A)
c.4921G>A (p.Asp1641Asn)
c.4894G>A (p.Asp1632Asn)
c.3328G>A (p.Asp1110Asn)
n.5119+622G>A
n.4526+14652G>A
c.4885G>A (p.Asp1629Asn)
n.5135+622G>A
n.5074G>A
n.4542+14652G>A
2g.227007397T>ACA431671736COL4A4c.603A>T (p.Pro201=)
c.5001A>T (p.Pro1667=)
c.4446A>T (p.Pro1482=)
c.4812A>T (p.Pro1604=)
c.4809+621A>T (n.4809+621A>T)
c.4216+14651A>T (n.4216+14651A>T)
c.4920A>T (p.Pro1640=)
c.4893A>T (p.Pro1631=)
c.3327A>T (p.Pro1109=)
n.5119+621A>T
n.4526+14651A>T
c.4884A>T (p.Pro1628=)
n.5135+621A>T
n.5073A>T
n.4542+14651A>T
2g.227007397T>CCA431671737COL4A4c.603A>G (p.Pro201=)
c.5001A>G (p.Pro1667=)
c.4446A>G (p.Pro1482=)
c.4812A>G (p.Pro1604=)
c.4809+621A>G (n.4809+621A>G)
c.4216+14651A>G (n.4216+14651A>G)
c.4920A>G (p.Pro1640=)
c.4893A>G (p.Pro1631=)
c.3327A>G (p.Pro1109=)
n.5119+621A>G
n.4526+14651A>G
c.4884A>G (p.Pro1628=)
n.5135+621A>G
n.5073A>G
n.4542+14651A>G
2g.227007397T>GCA431671738COL4A4c.603A>C (p.Pro201=)
c.5001A>C (p.Pro1667=)
c.4446A>C (p.Pro1482=)
c.4812A>C (p.Pro1604=)
c.4809+621A>C (n.4809+621A>C)
c.4216+14651A>C (n.4216+14651A>C)
c.4920A>C (p.Pro1640=)
c.4893A>C (p.Pro1631=)
c.3327A>C (p.Pro1109=)
n.5119+621A>C
n.4526+14651A>C
c.4884A>C (p.Pro1628=)
n.5135+621A>C
n.5073A>C
n.4542+14651A>C
2g.227007397_227007398insACCA2663399169COL4A4c.602_603insGT (p.Asp202Ter)
c.5000_5001insGT (p.Asp1668Ter)
c.4445_4446insGT (p.Asp1483Ter)
c.4811_4812insGT (p.Asp1605Ter)
c.4809+620_4809+621insGT (n.4809+620_4809+621insGT)
c.4216+14650_4216+14651insGT (n.4216+14650_4216+14651insGT)
c.4919_4920insGT (p.Asp1641Ter)
c.4892_4893insGT (p.Asp1632Ter)
c.3326_3327insGT (p.Asp1110Ter)
n.5119+620_5119+621insGT
n.4526+14650_4526+14651insGT
c.4883_4884insGT (p.Asp1629Ter)
n.5135+620_5135+621insGT
n.5072_5073insGT
n.4542+14650_4542+14651insGT
 gnomAD v4
2g.227007398G>ACA351140009COL4A4c.602C>T (p.Pro201Leu)
c.5000C>T (p.Pro1667Leu)
c.4445C>T (p.Pro1482Leu)
c.4811C>T (p.Pro1604Leu)
c.4809+620C>T (n.4809+620C>T)
c.4216+14650C>T (n.4216+14650C>T)
c.4919C>T (p.Pro1640Leu)
c.4892C>T (p.Pro1631Leu)
c.3326C>T (p.Pro1109Leu)
n.5119+620C>T
n.4526+14650C>T
c.4883C>T (p.Pro1628Leu)
n.5135+620C>T
n.5072C>T
n.4542+14650C>T
2g.227007398G>CCA351140011COL4A4c.602C>G (p.Pro201Arg)
c.5000C>G (p.Pro1667Arg)
c.4445C>G (p.Pro1482Arg)
c.4811C>G (p.Pro1604Arg)
c.4809+620C>G (n.4809+620C>G)
c.4216+14650C>G (n.4216+14650C>G)
c.4919C>G (p.Pro1640Arg)
c.4892C>G (p.Pro1631Arg)
c.3326C>G (p.Pro1109Arg)
n.5119+620C>G
n.4526+14650C>G
c.4883C>G (p.Pro1628Arg)
n.5135+620C>G
n.5072C>G
n.4542+14650C>G
2g.227007398G>TCA351140010COL4A4c.602C>A (p.Pro201Gln)
c.5000C>A (p.Pro1667Gln)
c.4445C>A (p.Pro1482Gln)
c.4811C>A (p.Pro1604Gln)
c.4809+620C>A (n.4809+620C>A)
c.4216+14650C>A (n.4216+14650C>A)
c.4919C>A (p.Pro1640Gln)
c.4892C>A (p.Pro1631Gln)
c.3326C>A (p.Pro1109Gln)
n.5119+620C>A
n.4526+14650C>A
c.4883C>A (p.Pro1628Gln)
n.5135+620C>A
n.5072C>A
n.4542+14650C>A
2g.227007399G>ACA351140012COL4A4c.601C>T (p.Pro201Ser)
c.4999C>T (p.Pro1667Ser)
c.4444C>T (p.Pro1482Ser)
c.4810C>T (p.Pro1604Ser)
c.4809+619C>T (n.4809+619C>T)
c.4216+14649C>T (n.4216+14649C>T)
c.4918C>T (p.Pro1640Ser)
c.4891C>T (p.Pro1631Ser)
c.3325C>T (p.Pro1109Ser)
n.5119+619C>T
n.4526+14649C>T
c.4882C>T (p.Pro1628Ser)
n.5135+619C>T
n.5071C>T
n.4542+14649C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227007399G>CCA351140014COL4A4c.601C>G (p.Pro201Ala)
c.4999C>G (p.Pro1667Ala)
c.4444C>G (p.Pro1482Ala)
c.4810C>G (p.Pro1604Ala)
c.4809+619C>G (n.4809+619C>G)
c.4216+14649C>G (n.4216+14649C>G)
c.4918C>G (p.Pro1640Ala)
c.4891C>G (p.Pro1631Ala)
c.3325C>G (p.Pro1109Ala)
n.5119+619C>G
n.4526+14649C>G
c.4882C>G (p.Pro1628Ala)
n.5135+619C>G
n.5071C>G
n.4542+14649C>G
2g.227007399G=CA1332723569COL4A4c.601C= (p.Pro201=)
c.4999C= (p.Pro1667=)
c.4444C= (p.Pro1482=)
c.4810C= (p.Pro1604=)
c.4809+619C= (n.4809+619C=)
c.4216+14649C= (n.4216+14649C=)
c.4918C= (p.Pro1640=)
c.4891C= (p.Pro1631=)
c.3325C= (p.Pro1109=)
n.5119+619C=
n.4526+14649C=
c.4882C= (p.Pro1628=)
n.5135+619C=
n.5071C=
n.4542+14649C=
2g.227007399G>TCA351140013COL4A4c.601C>A (p.Pro201Thr)
c.4999C>A (p.Pro1667Thr)
c.4444C>A (p.Pro1482Thr)
c.4810C>A (p.Pro1604Thr)
c.4809+619C>A (n.4809+619C>A)
c.4216+14649C>A (n.4216+14649C>A)
c.4918C>A (p.Pro1640Thr)
c.4891C>A (p.Pro1631Thr)
c.3325C>A (p.Pro1109Thr)
n.5119+619C>A
n.4526+14649C>A
c.4882C>A (p.Pro1628Thr)
n.5135+619C>A
n.5071C>A
n.4542+14649C>A
 gnomAD v4
2g.227007400T>ACA2144000COL4A4c.600A>T (p.Ala200=)
c.4998A>T (p.Ala1666=)
c.4443A>T (p.Ala1481=)
c.4809A>T (p.Ala1603=)
c.4809+618A>T (n.4809+618A>T)
c.4216+14648A>T (n.4216+14648A>T)
c.4917A>T (p.Ala1639=)
c.4890A>T (p.Ala1630=)
c.3324A>T (p.Ala1108=)
n.5119+618A>T
n.4526+14648A>T
c.4881A>T (p.Ala1627=)
n.5135+618A>T
n.5070A>T
n.4542+14648A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227007400T>CCA431671741COL4A4c.600A>G (p.Ala200=)
c.4998A>G (p.Ala1666=)
c.4443A>G (p.Ala1481=)
c.4809A>G (p.Ala1603=)
c.4809+618A>G (n.4809+618A>G)
c.4216+14648A>G (n.4216+14648A>G)
c.4917A>G (p.Ala1639=)
c.4890A>G (p.Ala1630=)
c.3324A>G (p.Ala1108=)
n.5119+618A>G
n.4526+14648A>G
c.4881A>G (p.Ala1627=)
n.5135+618A>G
n.5070A>G
n.4542+14648A>G
2g.227007400T>GCA431671742COL4A4c.600A>C (p.Ala200=)
c.4998A>C (p.Ala1666=)
c.4443A>C (p.Ala1481=)
c.4809A>C (p.Ala1603=)
c.4809+618A>C (n.4809+618A>C)
c.4216+14648A>C (n.4216+14648A>C)
c.4917A>C (p.Ala1639=)
c.4890A>C (p.Ala1630=)
c.3324A>C (p.Ala1108=)
n.5119+618A>C
n.4526+14648A>C
c.4881A>C (p.Ala1627=)
n.5135+618A>C
n.5070A>C
n.4542+14648A>C
2g.227007400T=CA1332723570COL4A4c.600A= (p.Ala200=)
c.4998A= (p.Ala1666=)
c.4443A= (p.Ala1481=)
c.4809A= (p.Ala1603=)
c.4809+618A= (n.4809+618A=)
c.4216+14648A= (n.4216+14648A=)
c.4917A= (p.Ala1639=)
c.4890A= (p.Ala1630=)
c.3324A= (p.Ala1108=)
n.5119+618A=
n.4526+14648A=
c.4881A= (p.Ala1627=)
n.5135+618A=
n.5070A=
n.4542+14648A=
2g.227007401G>ACA351140015COL4A4c.599C>T (p.Ala200Val)
c.4997C>T (p.Ala1666Val)
c.4442C>T (p.Ala1481Val)
c.4808C>T (p.Ala1603Val)
c.4809+617C>T (n.4809+617C>T)
c.4216+14647C>T (n.4216+14647C>T)
c.4916C>T (p.Ala1639Val)
c.4889C>T (p.Ala1630Val)
c.3323C>T (p.Ala1108Val)
n.5119+617C>T
n.4526+14647C>T
c.4880C>T (p.Ala1627Val)
n.5135+617C>T
n.5069C>T
n.4542+14647C>T
2g.227007401G>CCA351140016COL4A4c.599C>G (p.Ala200Gly)
c.4997C>G (p.Ala1666Gly)
c.4442C>G (p.Ala1481Gly)
c.4808C>G (p.Ala1603Gly)
c.4809+617C>G (n.4809+617C>G)
c.4216+14647C>G (n.4216+14647C>G)
c.4916C>G (p.Ala1639Gly)
c.4889C>G (p.Ala1630Gly)
c.3323C>G (p.Ala1108Gly)
n.5119+617C>G
n.4526+14647C>G
c.4880C>G (p.Ala1627Gly)
n.5135+617C>G
n.5069C>G
n.4542+14647C>G
2g.227007401G>TCA351140017COL4A4c.599C>A (p.Ala200Glu)
c.4997C>A (p.Ala1666Glu)
c.4442C>A (p.Ala1481Glu)
c.4808C>A (p.Ala1603Glu)
c.4809+617C>A (n.4809+617C>A)
c.4216+14647C>A (n.4216+14647C>A)
c.4916C>A (p.Ala1639Glu)
c.4889C>A (p.Ala1630Glu)
c.3323C>A (p.Ala1108Glu)
n.5119+617C>A
n.4526+14647C>A
c.4880C>A (p.Ala1627Glu)
n.5135+617C>A
n.5069C>A
n.4542+14647C>A
2g.227007402C>ACA351140018COL4A4c.598G>T (p.Ala200Ser)
c.4996G>T (p.Ala1666Ser)
c.4441G>T (p.Ala1481Ser)
c.4807G>T (p.Ala1603Ser)
c.4809+616G>T (n.4809+616G>T)
c.4216+14646G>T (n.4216+14646G>T)
c.4915G>T (p.Ala1639Ser)
c.4888G>T (p.Ala1630Ser)
c.3322G>T (p.Ala1108Ser)
n.5119+616G>T
n.4526+14646G>T
c.4879G>T (p.Ala1627Ser)
n.5135+616G>T
n.5068G>T
n.4542+14646G>T
2g.227007402C>GCA351140019COL4A4c.598G>C (p.Ala200Pro)
c.4996G>C (p.Ala1666Pro)
c.4441G>C (p.Ala1481Pro)
c.4807G>C (p.Ala1603Pro)
c.4809+616G>C (n.4809+616G>C)
c.4216+14646G>C (n.4216+14646G>C)
c.4915G>C (p.Ala1639Pro)
c.4888G>C (p.Ala1630Pro)
c.3322G>C (p.Ala1108Pro)
n.5119+616G>C
n.4526+14646G>C
c.4879G>C (p.Ala1627Pro)
n.5135+616G>C
n.5068G>C
n.4542+14646G>C
2g.227007402C>TCA351140020COL4A4c.598G>A (p.Ala200Thr)
c.4996G>A (p.Ala1666Thr)
c.4441G>A (p.Ala1481Thr)
c.4807G>A (p.Ala1603Thr)
c.4809+616G>A (n.4809+616G>A)
c.4216+14646G>A (n.4216+14646G>A)
c.4915G>A (p.Ala1639Thr)
c.4888G>A (p.Ala1630Thr)
c.3322G>A (p.Ala1108Thr)
n.5119+616G>A
n.4526+14646G>A
c.4879G>A (p.Ala1627Thr)
n.5135+616G>A
n.5068G>A
n.4542+14646G>A
2g.227007403T>ACA431671745COL4A4c.597A>T (p.Pro199=)
c.4995A>T (p.Pro1665=)
c.4440A>T (p.Pro1480=)
c.4806A>T (p.Pro1602=)
c.4809+615A>T (n.4809+615A>T)
c.4216+14645A>T (n.4216+14645A>T)
c.4914A>T (p.Pro1638=)
c.4887A>T (p.Pro1629=)
c.3321A>T (p.Pro1107=)
n.5119+615A>T
n.4526+14645A>T
c.4878A>T (p.Pro1626=)
n.5135+615A>T
n.5067A>T
n.4542+14645A>T
 ClinVar dbSNP
2g.227007403T>CCA431671746COL4A4c.597A>G (p.Pro199=)
c.4995A>G (p.Pro1665=)
c.4440A>G (p.Pro1480=)
c.4806A>G (p.Pro1602=)
c.4809+615A>G (n.4809+615A>G)
c.4216+14645A>G (n.4216+14645A>G)
c.4914A>G (p.Pro1638=)
c.4887A>G (p.Pro1629=)
c.3321A>G (p.Pro1107=)
n.5119+615A>G
n.4526+14645A>G
c.4878A>G (p.Pro1626=)
n.5135+615A>G
n.5067A>G
n.4542+14645A>G
2g.227007403T>GCA431671747COL4A4c.597A>C (p.Pro199=)
c.4995A>C (p.Pro1665=)
c.4440A>C (p.Pro1480=)
c.4806A>C (p.Pro1602=)
c.4809+615A>C (n.4809+615A>C)
c.4216+14645A>C (n.4216+14645A>C)
c.4914A>C (p.Pro1638=)
c.4887A>C (p.Pro1629=)
c.3321A>C (p.Pro1107=)
n.5119+615A>C
n.4526+14645A>C
c.4878A>C (p.Pro1626=)
n.5135+615A>C
n.5067A>C
n.4542+14645A>C
2g.227007403T=CA1332723571COL4A4c.597A= (p.Pro199=)
c.4995A= (p.Pro1665=)
c.4440A= (p.Pro1480=)
c.4806A= (p.Pro1602=)
c.4809+615A= (n.4809+615A=)
c.4216+14645A= (n.4216+14645A=)
c.4914A= (p.Pro1638=)
c.4887A= (p.Pro1629=)
c.3321A= (p.Pro1107=)
n.5119+615A=
n.4526+14645A=
c.4878A= (p.Pro1626=)
n.5135+615A=
n.5067A=
n.4542+14645A=
2g.227007404G>ACA351140021COL4A4c.596C>T (p.Pro199Leu)
c.4994C>T (p.Pro1665Leu)
c.4439C>T (p.Pro1480Leu)
c.4805C>T (p.Pro1602Leu)
c.4809+614C>T (n.4809+614C>T)
c.4216+14644C>T (n.4216+14644C>T)
c.4913C>T (p.Pro1638Leu)
c.4886C>T (p.Pro1629Leu)
c.3320C>T (p.Pro1107Leu)
n.5119+614C>T
n.4526+14644C>T
c.4877C>T (p.Pro1626Leu)
n.5135+614C>T
n.5066C>T
n.4542+14644C>T
2g.227007404G>CCA351140022COL4A4c.596C>G (p.Pro199Arg)
c.4994C>G (p.Pro1665Arg)
c.4439C>G (p.Pro1480Arg)
c.4805C>G (p.Pro1602Arg)
c.4809+614C>G (n.4809+614C>G)
c.4216+14644C>G (n.4216+14644C>G)
c.4913C>G (p.Pro1638Arg)
c.4886C>G (p.Pro1629Arg)
c.3320C>G (p.Pro1107Arg)
n.5119+614C>G
n.4526+14644C>G
c.4877C>G (p.Pro1626Arg)
n.5135+614C>G
n.5066C>G
n.4542+14644C>G
2g.227007404G>TCA351140023COL4A4c.596C>A (p.Pro199Gln)
c.4994C>A (p.Pro1665Gln)
c.4439C>A (p.Pro1480Gln)
c.4805C>A (p.Pro1602Gln)
c.4809+614C>A (n.4809+614C>A)
c.4216+14644C>A (n.4216+14644C>A)
c.4913C>A (p.Pro1638Gln)
c.4886C>A (p.Pro1629Gln)
c.3320C>A (p.Pro1107Gln)
n.5119+614C>A
n.4526+14644C>A
c.4877C>A (p.Pro1626Gln)
n.5135+614C>A
n.5066C>A
n.4542+14644C>A
2g.227007405G>ACA351140025COL4A4c.595C>T (p.Pro199Ser)
c.4993C>T (p.Pro1665Ser)
c.4438C>T (p.Pro1480Ser)
c.4804C>T (p.Pro1602Ser)
c.4809+613C>T (n.4809+613C>T)
c.4216+14643C>T (n.4216+14643C>T)
c.4912C>T (p.Pro1638Ser)
c.4885C>T (p.Pro1629Ser)
c.3319C>T (p.Pro1107Ser)
n.5119+613C>T
n.4526+14643C>T
c.4876C>T (p.Pro1626Ser)
n.5135+613C>T
n.5065C>T
n.4542+14643C>T
2g.227007405G>CCA351140024COL4A4c.595C>G (p.Pro199Ala)
c.4993C>G (p.Pro1665Ala)
c.4438C>G (p.Pro1480Ala)
c.4804C>G (p.Pro1602Ala)
c.4809+613C>G (n.4809+613C>G)
c.4216+14643C>G (n.4216+14643C>G)
c.4912C>G (p.Pro1638Ala)
c.4885C>G (p.Pro1629Ala)
c.3319C>G (p.Pro1107Ala)
n.5119+613C>G
n.4526+14643C>G
c.4876C>G (p.Pro1626Ala)
n.5135+613C>G
n.5065C>G
n.4542+14643C>G
 gnomAD v4
2g.227007405G=CA1332723572COL4A4c.595C= (p.Pro199=)
c.4993C= (p.Pro1665=)
c.4438C= (p.Pro1480=)
c.4804C= (p.Pro1602=)
c.4809+613C= (n.4809+613C=)
c.4216+14643C= (n.4216+14643C=)
c.4912C= (p.Pro1638=)
c.4885C= (p.Pro1629=)
c.3319C= (p.Pro1107=)
n.5119+613C=
n.4526+14643C=
c.4876C= (p.Pro1626=)
n.5135+613C=
n.5065C=
n.4542+14643C=
2g.227007405G>TCA2144001COL4A4c.595C>A (p.Pro199Thr)
c.4993C>A (p.Pro1665Thr)
c.4438C>A (p.Pro1480Thr)
c.4804C>A (p.Pro1602Thr)
c.4809+613C>A (n.4809+613C>A)
c.4216+14643C>A (n.4216+14643C>A)
c.4912C>A (p.Pro1638Thr)
c.4885C>A (p.Pro1629Thr)
c.3319C>A (p.Pro1107Thr)
n.5119+613C>A
n.4526+14643C>A
c.4876C>A (p.Pro1626Thr)
n.5135+613C>A
n.5065C>A
n.4542+14643C>A
 dbSNP ExAC gnomAD v2
2g.227007406A>CCA431671752COL4A4c.594T>G (p.Ala198=)
c.4992T>G (p.Ala1664=)
c.4437T>G (p.Ala1479=)
c.4803T>G (p.Ala1601=)
c.4809+612T>G (n.4809+612T>G)
c.4216+14642T>G (n.4216+14642T>G)
c.4911T>G (p.Ala1637=)
c.4884T>G (p.Ala1628=)
c.3318T>G (p.Ala1106=)
n.5119+612T>G
n.4526+14642T>G
c.4875T>G (p.Ala1625=)
n.5135+612T>G
n.5064T>G
n.4542+14642T>G
2g.227007406A>GCA431671753COL4A4c.594T>C (p.Ala198=)
c.4992T>C (p.Ala1664=)
c.4437T>C (p.Ala1479=)
c.4803T>C (p.Ala1601=)
c.4809+612T>C (n.4809+612T>C)
c.4216+14642T>C (n.4216+14642T>C)
c.4911T>C (p.Ala1637=)
c.4884T>C (p.Ala1628=)
c.3318T>C (p.Ala1106=)
n.5119+612T>C
n.4526+14642T>C
c.4875T>C (p.Ala1625=)
n.5135+612T>C
n.5064T>C
n.4542+14642T>C
2g.227007406A>TCA431671754COL4A4c.594T>A (p.Ala198=)
c.4992T>A (p.Ala1664=)
c.4437T>A (p.Ala1479=)
c.4803T>A (p.Ala1601=)
c.4809+612T>A (n.4809+612T>A)
c.4216+14642T>A (n.4216+14642T>A)
c.4911T>A (p.Ala1637=)
c.4884T>A (p.Ala1628=)
c.3318T>A (p.Ala1106=)
n.5119+612T>A
n.4526+14642T>A
c.4875T>A (p.Ala1625=)
n.5135+612T>A
n.5064T>A
n.4542+14642T>A
2g.227007407G>ACA351140026COL4A4c.593C>T (p.Ala198Val)
c.4991C>T (p.Ala1664Val)
c.4436C>T (p.Ala1479Val)
c.4802C>T (p.Ala1601Val)
c.4809+611C>T (n.4809+611C>T)
c.4216+14641C>T (n.4216+14641C>T)
c.4910C>T (p.Ala1637Val)
c.4883C>T (p.Ala1628Val)
c.3317C>T (p.Ala1106Val)
n.5119+611C>T
n.4526+14641C>T
c.4874C>T (p.Ala1625Val)
n.5135+611C>T
n.5063C>T
n.4542+14641C>T
2g.227007407G>CCA351140027COL4A4c.593C>G (p.Ala198Gly)
c.4991C>G (p.Ala1664Gly)
c.4436C>G (p.Ala1479Gly)
c.4802C>G (p.Ala1601Gly)
c.4809+611C>G (n.4809+611C>G)
c.4216+14641C>G (n.4216+14641C>G)
c.4910C>G (p.Ala1637Gly)
c.4883C>G (p.Ala1628Gly)
c.3317C>G (p.Ala1106Gly)
n.5119+611C>G
n.4526+14641C>G
c.4874C>G (p.Ala1625Gly)
n.5135+611C>G
n.5063C>G
n.4542+14641C>G
2g.227007407G>TCA351140028COL4A4c.593C>A (p.Ala198Asp)
c.4991C>A (p.Ala1664Asp)
c.4436C>A (p.Ala1479Asp)
c.4802C>A (p.Ala1601Asp)
c.4809+611C>A (n.4809+611C>A)
c.4216+14641C>A (n.4216+14641C>A)
c.4910C>A (p.Ala1637Asp)
c.4883C>A (p.Ala1628Asp)
c.3317C>A (p.Ala1106Asp)
n.5119+611C>A
n.4526+14641C>A
c.4874C>A (p.Ala1625Asp)
n.5135+611C>A
n.5063C>A
n.4542+14641C>A
2g.227007408C>ACA351140029COL4A4c.592G>T (p.Ala198Ser)
c.4990G>T (p.Ala1664Ser)
c.4435G>T (p.Ala1479Ser)
c.4801G>T (p.Ala1601Ser)
c.4809+610G>T (n.4809+610G>T)
c.4216+14640G>T (n.4216+14640G>T)
c.4909G>T (p.Ala1637Ser)
c.4882G>T (p.Ala1628Ser)
c.3316G>T (p.Ala1106Ser)
n.5119+610G>T
n.4526+14640G>T
c.4873G>T (p.Ala1625Ser)
n.5135+610G>T
n.5062G>T
n.4542+14640G>T
2g.227007408C=CA1332723573COL4A4c.592G= (p.Ala198=)
c.4990G= (p.Ala1664=)
c.4435G= (p.Ala1479=)
c.4801G= (p.Ala1601=)
c.4809+610G= (n.4809+610G=)
c.4216+14640G= (n.4216+14640G=)
c.4909G= (p.Ala1637=)
c.4882G= (p.Ala1628=)
c.3316G= (p.Ala1106=)
n.5119+610G=
n.4526+14640G=
c.4873G= (p.Ala1625=)
n.5135+610G=
n.5062G=
n.4542+14640G=
2g.227007408C>GCA351140030COL4A4c.592G>C (p.Ala198Pro)
c.4990G>C (p.Ala1664Pro)
c.4435G>C (p.Ala1479Pro)
c.4801G>C (p.Ala1601Pro)
c.4809+610G>C (n.4809+610G>C)
c.4216+14640G>C (n.4216+14640G>C)
c.4909G>C (p.Ala1637Pro)
c.4882G>C (p.Ala1628Pro)
c.3316G>C (p.Ala1106Pro)
n.5119+610G>C
n.4526+14640G>C
c.4873G>C (p.Ala1625Pro)
n.5135+610G>C
n.5062G>C
n.4542+14640G>C
 dbSNP gnomAD v2 gnomAD v4
2g.227007408C>TCA351140031COL4A4c.592G>A (p.Ala198Thr)
c.4990G>A (p.Ala1664Thr)
c.4435G>A (p.Ala1479Thr)
c.4801G>A (p.Ala1601Thr)
c.4809+610G>A (n.4809+610G>A)
c.4216+14640G>A (n.4216+14640G>A)
c.4909G>A (p.Ala1637Thr)
c.4882G>A (p.Ala1628Thr)
c.3316G>A (p.Ala1106Thr)
n.5119+610G>A
n.4526+14640G>A
c.4873G>A (p.Ala1625Thr)
n.5135+610G>A
n.5062G>A
n.4542+14640G>A
2g.227007409A>CCA431671758COL4A4c.591T>G (p.Ser197=)
c.4989T>G (p.Ser1663=)
c.4434T>G (p.Ser1478=)
c.4800T>G (p.Ser1600=)
c.4809+609T>G (n.4809+609T>G)
c.4216+14639T>G (n.4216+14639T>G)
c.4908T>G (p.Ser1636=)
c.4881T>G (p.Ser1627=)
c.3315T>G (p.Ser1105=)
n.5119+609T>G
n.4526+14639T>G
c.4872T>G (p.Ser1624=)
n.5135+609T>G
n.5061T>G
n.4542+14639T>G
2g.227007409A>GCA431671759COL4A4c.591T>C (p.Ser197=)
c.4989T>C (p.Ser1663=)
c.4434T>C (p.Ser1478=)
c.4800T>C (p.Ser1600=)
c.4809+609T>C (n.4809+609T>C)
c.4216+14639T>C (n.4216+14639T>C)
c.4908T>C (p.Ser1636=)
c.4881T>C (p.Ser1627=)
c.3315T>C (p.Ser1105=)
n.5119+609T>C
n.4526+14639T>C
c.4872T>C (p.Ser1624=)
n.5135+609T>C
n.5061T>C
n.4542+14639T>C
2g.227007409A>TCA431671760COL4A4c.591T>A (p.Ser197=)
c.4989T>A (p.Ser1663=)
c.4434T>A (p.Ser1478=)
c.4800T>A (p.Ser1600=)
c.4809+609T>A (n.4809+609T>A)
c.4216+14639T>A (n.4216+14639T>A)
c.4908T>A (p.Ser1636=)
c.4881T>A (p.Ser1627=)
c.3315T>A (p.Ser1105=)
n.5119+609T>A
n.4526+14639T>A
c.4872T>A (p.Ser1624=)
n.5135+609T>A
n.5061T>A
n.4542+14639T>A
2g.227007410G>ACA351140032COL4A4c.590C>T (p.Ser197Phe)
c.4988C>T (p.Ser1663Phe)
c.4433C>T (p.Ser1478Phe)
c.4799C>T (p.Ser1600Phe)
c.4809+608C>T (n.4809+608C>T)
c.4216+14638C>T (n.4216+14638C>T)
c.4907C>T (p.Ser1636Phe)
c.4880C>T (p.Ser1627Phe)
c.3314C>T (p.Ser1105Phe)
n.5119+608C>T
n.4526+14638C>T
c.4871C>T (p.Ser1624Phe)
n.5135+608C>T
n.5060C>T
n.4542+14638C>T
2g.227007410G>CCA2144002COL4A4c.590C>G (p.Ser197Cys)
c.4988C>G (p.Ser1663Cys)
c.4433C>G (p.Ser1478Cys)
c.4799C>G (p.Ser1600Cys)
c.4809+608C>G (n.4809+608C>G)
c.4216+14638C>G (n.4216+14638C>G)
c.4907C>G (p.Ser1636Cys)
c.4880C>G (p.Ser1627Cys)
c.3314C>G (p.Ser1105Cys)
n.5119+608C>G
n.4526+14638C>G
c.4871C>G (p.Ser1624Cys)
n.5135+608C>G
n.5060C>G
n.4542+14638C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007410G=CA1332723574COL4A4c.590C= (p.Ser197=)
c.4988C= (p.Ser1663=)
c.4433C= (p.Ser1478=)
c.4799C= (p.Ser1600=)
c.4809+608C= (n.4809+608C=)
c.4216+14638C= (n.4216+14638C=)
c.4907C= (p.Ser1636=)
c.4880C= (p.Ser1627=)
c.3314C= (p.Ser1105=)
n.5119+608C=
n.4526+14638C=
c.4871C= (p.Ser1624=)
n.5135+608C=
n.5060C=
n.4542+14638C=
2g.227007410G>TCA351140033COL4A4c.590C>A (p.Ser197Tyr)
c.4988C>A (p.Ser1663Tyr)
c.4433C>A (p.Ser1478Tyr)
c.4799C>A (p.Ser1600Tyr)
c.4809+608C>A (n.4809+608C>A)
c.4216+14638C>A (n.4216+14638C>A)
c.4907C>A (p.Ser1636Tyr)
c.4880C>A (p.Ser1627Tyr)
c.3314C>A (p.Ser1105Tyr)
n.5119+608C>A
n.4526+14638C>A
c.4871C>A (p.Ser1624Tyr)
n.5135+608C>A
n.5060C>A
n.4542+14638C>A
2g.227007411A>CCA351140034COL4A4c.589T>G (p.Ser197Ala)
c.4987T>G (p.Ser1663Ala)
c.4432T>G (p.Ser1478Ala)
c.4798T>G (p.Ser1600Ala)
c.4809+607T>G (n.4809+607T>G)
c.4216+14637T>G (n.4216+14637T>G)
c.4906T>G (p.Ser1636Ala)
c.4879T>G (p.Ser1627Ala)
c.3313T>G (p.Ser1105Ala)
n.5119+607T>G
n.4526+14637T>G
c.4870T>G (p.Ser1624Ala)
n.5135+607T>G
n.5059T>G
n.4542+14637T>G
2g.227007411A>GCA351140035COL4A4c.589T>C (p.Ser197Pro)
c.4987T>C (p.Ser1663Pro)
c.4432T>C (p.Ser1478Pro)
c.4798T>C (p.Ser1600Pro)
c.4809+607T>C (n.4809+607T>C)
c.4216+14637T>C (n.4216+14637T>C)
c.4906T>C (p.Ser1636Pro)
c.4879T>C (p.Ser1627Pro)
c.3313T>C (p.Ser1105Pro)
n.5119+607T>C
n.4526+14637T>C
c.4870T>C (p.Ser1624Pro)
n.5135+607T>C
n.5059T>C
n.4542+14637T>C
2g.227007411A>TCA351140036COL4A4c.589T>A (p.Ser197Thr)
c.4987T>A (p.Ser1663Thr)
c.4432T>A (p.Ser1478Thr)
c.4798T>A (p.Ser1600Thr)
c.4809+607T>A (n.4809+607T>A)
c.4216+14637T>A (n.4216+14637T>A)
c.4906T>A (p.Ser1636Thr)
c.4879T>A (p.Ser1627Thr)
c.3313T>A (p.Ser1105Thr)
n.5119+607T>A
n.4526+14637T>A
c.4870T>A (p.Ser1624Thr)
n.5135+607T>A
n.5059T>A
n.4542+14637T>A
2g.227007412G>ACA431671764COL4A4c.588C>T (p.Ser196=)
c.4986C>T (p.Ser1662=)
c.4431C>T (p.Ser1477=)
c.4797C>T (p.Ser1599=)
c.4809+606C>T (n.4809+606C>T)
c.4216+14636C>T (n.4216+14636C>T)
c.4905C>T (p.Ser1635=)
c.4878C>T (p.Ser1626=)
c.3312C>T (p.Ser1104=)
n.5119+606C>T
n.4526+14636C>T
c.4869C>T (p.Ser1623=)
n.5135+606C>T
n.5058C>T
n.4542+14636C>T
 gnomAD v4
2g.227007412G>CCA431671766COL4A4c.588C>G (p.Ser196=)
c.4986C>G (p.Ser1662=)
c.4431C>G (p.Ser1477=)
c.4797C>G (p.Ser1599=)
c.4809+606C>G (n.4809+606C>G)
c.4216+14636C>G (n.4216+14636C>G)
c.4905C>G (p.Ser1635=)
c.4878C>G (p.Ser1626=)
c.3312C>G (p.Ser1104=)
n.5119+606C>G
n.4526+14636C>G
c.4869C>G (p.Ser1623=)
n.5135+606C>G
n.5058C>G
n.4542+14636C>G
2g.227007412G>TCA431671767COL4A4c.588C>A (p.Ser196=)
c.4986C>A (p.Ser1662=)
c.4431C>A (p.Ser1477=)
c.4797C>A (p.Ser1599=)
c.4809+606C>A (n.4809+606C>A)
c.4216+14636C>A (n.4216+14636C>A)
c.4905C>A (p.Ser1635=)
c.4878C>A (p.Ser1626=)
c.3312C>A (p.Ser1104=)
n.5119+606C>A
n.4526+14636C>A
c.4869C>A (p.Ser1623=)
n.5135+606C>A
n.5058C>A
n.4542+14636C>A
2g.227007413G>ACA351140039COL4A4c.587C>T (p.Ser196Phe)
c.4985C>T (p.Ser1662Phe)
c.4430C>T (p.Ser1477Phe)
c.4796C>T (p.Ser1599Phe)
c.4809+605C>T (n.4809+605C>T)
c.4216+14635C>T (n.4216+14635C>T)
c.4904C>T (p.Ser1635Phe)
c.4877C>T (p.Ser1626Phe)
c.3311C>T (p.Ser1104Phe)
n.5119+605C>T
n.4526+14635C>T
c.4868C>T (p.Ser1623Phe)
n.5135+605C>T
n.5057C>T
n.4542+14635C>T
2g.227007413G>CCA351140038COL4A4c.587C>G (p.Ser196Cys)
c.4985C>G (p.Ser1662Cys)
c.4430C>G (p.Ser1477Cys)
c.4796C>G (p.Ser1599Cys)
c.4809+605C>G (n.4809+605C>G)
c.4216+14635C>G (n.4216+14635C>G)
c.4904C>G (p.Ser1635Cys)
c.4877C>G (p.Ser1626Cys)
c.3311C>G (p.Ser1104Cys)
n.5119+605C>G
n.4526+14635C>G
c.4868C>G (p.Ser1623Cys)
n.5135+605C>G
n.5057C>G
n.4542+14635C>G
2g.227007413G>TCA351140037COL4A4c.587C>A (p.Ser196Tyr)
c.4985C>A (p.Ser1662Tyr)
c.4430C>A (p.Ser1477Tyr)
c.4796C>A (p.Ser1599Tyr)
c.4809+605C>A (n.4809+605C>A)
c.4216+14635C>A (n.4216+14635C>A)
c.4904C>A (p.Ser1635Tyr)
c.4877C>A (p.Ser1626Tyr)
c.3311C>A (p.Ser1104Tyr)
n.5119+605C>A
n.4526+14635C>A
c.4868C>A (p.Ser1623Tyr)
n.5135+605C>A
n.5057C>A
n.4542+14635C>A
2g.227007414A>CCA351140042COL4A4c.586T>G (p.Ser196Ala)
c.4984T>G (p.Ser1662Ala)
c.4429T>G (p.Ser1477Ala)
c.4795T>G (p.Ser1599Ala)
c.4809+604T>G (n.4809+604T>G)
c.4216+14634T>G (n.4216+14634T>G)
c.4903T>G (p.Ser1635Ala)
c.4876T>G (p.Ser1626Ala)
c.3310T>G (p.Ser1104Ala)
n.5119+604T>G
n.4526+14634T>G
c.4867T>G (p.Ser1623Ala)
n.5135+604T>G
n.5056T>G
n.4542+14634T>G
 gnomAD v4
2g.227007414A>GCA351140040COL4A4c.586T>C (p.Ser196Pro)
c.4984T>C (p.Ser1662Pro)
c.4429T>C (p.Ser1477Pro)
c.4795T>C (p.Ser1599Pro)
c.4809+604T>C (n.4809+604T>C)
c.4216+14634T>C (n.4216+14634T>C)
c.4903T>C (p.Ser1635Pro)
c.4876T>C (p.Ser1626Pro)
c.3310T>C (p.Ser1104Pro)
n.5119+604T>C
n.4526+14634T>C
c.4867T>C (p.Ser1623Pro)
n.5135+604T>C
n.5056T>C
n.4542+14634T>C
 gnomAD v4
2g.227007414A>TCA351140041COL4A4c.586T>A (p.Ser196Thr)
c.4984T>A (p.Ser1662Thr)
c.4429T>A (p.Ser1477Thr)
c.4795T>A (p.Ser1599Thr)
c.4809+604T>A (n.4809+604T>A)
c.4216+14634T>A (n.4216+14634T>A)
c.4903T>A (p.Ser1635Thr)
c.4876T>A (p.Ser1626Thr)
c.3310T>A (p.Ser1104Thr)
n.5119+604T>A
n.4526+14634T>A
c.4867T>A (p.Ser1623Thr)
n.5135+604T>A
n.5056T>A
n.4542+14634T>A
2g.227007415A>CCA351140043COL4A4c.585T>G (p.Phe195Leu)
c.4983T>G (p.Phe1661Leu)
c.4428T>G (p.Phe1476Leu)
c.4794T>G (p.Phe1598Leu)
c.4809+603T>G (n.4809+603T>G)
c.4216+14633T>G (n.4216+14633T>G)
c.4902T>G (p.Phe1634Leu)
c.4875T>G (p.Phe1625Leu)
c.3309T>G (p.Phe1103Leu)
n.5119+603T>G
n.4526+14633T>G
c.4866T>G (p.Phe1622Leu)
n.5135+603T>G
n.5055T>G
n.4542+14633T>G
2g.227007415A>GCA431671771COL4A4c.585T>C (p.Phe195=)
c.4983T>C (p.Phe1661=)
c.4428T>C (p.Phe1476=)
c.4794T>C (p.Phe1598=)
c.4809+603T>C (n.4809+603T>C)
c.4216+14633T>C (n.4216+14633T>C)
c.4902T>C (p.Phe1634=)
c.4875T>C (p.Phe1625=)
c.3309T>C (p.Phe1103=)
n.5119+603T>C
n.4526+14633T>C
c.4866T>C (p.Phe1622=)
n.5135+603T>C
n.5055T>C
n.4542+14633T>C
2g.227007415A>TCA351140044COL4A4c.585T>A (p.Phe195Leu)
c.4983T>A (p.Phe1661Leu)
c.4428T>A (p.Phe1476Leu)
c.4794T>A (p.Phe1598Leu)
c.4809+603T>A (n.4809+603T>A)
c.4216+14633T>A (n.4216+14633T>A)
c.4902T>A (p.Phe1634Leu)
c.4875T>A (p.Phe1625Leu)
c.3309T>A (p.Phe1103Leu)
n.5119+603T>A
n.4526+14633T>A
c.4866T>A (p.Phe1622Leu)
n.5135+603T>A
n.5055T>A
n.4542+14633T>A
2g.227007416A=CA1332723575COL4A4c.584T= (p.Phe195=)
c.4982T= (p.Phe1661=)
c.4427T= (p.Phe1476=)
c.4793T= (p.Phe1598=)
c.4809+602T= (n.4809+602T=)
c.4216+14632T= (n.4216+14632T=)
c.4901T= (p.Phe1634=)
c.4874T= (p.Phe1625=)
c.3308T= (p.Phe1103=)
n.5119+602T=
n.4526+14632T=
c.4865T= (p.Phe1622=)
n.5135+602T=
n.5054T=
n.4542+14632T=
2g.227007416A>CCA351140045COL4A4c.584T>G (p.Phe195Cys)
c.4982T>G (p.Phe1661Cys)
c.4427T>G (p.Phe1476Cys)
c.4793T>G (p.Phe1598Cys)
c.4809+602T>G (n.4809+602T>G)
c.4216+14632T>G (n.4216+14632T>G)
c.4901T>G (p.Phe1634Cys)
c.4874T>G (p.Phe1625Cys)
c.3308T>G (p.Phe1103Cys)
n.5119+602T>G
n.4526+14632T>G
c.4865T>G (p.Phe1622Cys)
n.5135+602T>G
n.5054T>G
n.4542+14632T>G
2g.227007416A>GCA351140046COL4A4c.584T>C (p.Phe195Ser)
c.4982T>C (p.Phe1661Ser)
c.4427T>C (p.Phe1476Ser)
c.4793T>C (p.Phe1598Ser)
c.4809+602T>C (n.4809+602T>C)
c.4216+14632T>C (n.4216+14632T>C)
c.4901T>C (p.Phe1634Ser)
c.4874T>C (p.Phe1625Ser)
c.3308T>C (p.Phe1103Ser)
n.5119+602T>C
n.4526+14632T>C
c.4865T>C (p.Phe1622Ser)
n.5135+602T>C
n.5054T>C
n.4542+14632T>C
 dbSNP
2g.227007416A>TCA2144003COL4A4c.584T>A (p.Phe195Tyr)
c.4982T>A (p.Phe1661Tyr)
c.4427T>A (p.Phe1476Tyr)
c.4793T>A (p.Phe1598Tyr)
c.4809+602T>A (n.4809+602T>A)
c.4216+14632T>A (n.4216+14632T>A)
c.4901T>A (p.Phe1634Tyr)
c.4874T>A (p.Phe1625Tyr)
c.3308T>A (p.Phe1103Tyr)
n.5119+602T>A
n.4526+14632T>A
c.4865T>A (p.Phe1622Tyr)
n.5135+602T>A
n.5054T>A
n.4542+14632T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007417A>CCA351140047COL4A4c.583T>G (p.Phe195Val)
c.4981T>G (p.Phe1661Val)
c.4426T>G (p.Phe1476Val)
c.4792T>G (p.Phe1598Val)
c.4809+601T>G (n.4809+601T>G)
c.4216+14631T>G (n.4216+14631T>G)
c.4900T>G (p.Phe1634Val)
c.4873T>G (p.Phe1625Val)
c.3307T>G (p.Phe1103Val)
n.5119+601T>G
n.4526+14631T>G
c.4864T>G (p.Phe1622Val)
n.5135+601T>G
n.5053T>G
n.4542+14631T>G
2g.227007417A>GCA351140048COL4A4c.583T>C (p.Phe195Leu)
c.4981T>C (p.Phe1661Leu)
c.4426T>C (p.Phe1476Leu)
c.4792T>C (p.Phe1598Leu)
c.4809+601T>C (n.4809+601T>C)
c.4216+14631T>C (n.4216+14631T>C)
c.4900T>C (p.Phe1634Leu)
c.4873T>C (p.Phe1625Leu)
c.3307T>C (p.Phe1103Leu)
n.5119+601T>C
n.4526+14631T>C
c.4864T>C (p.Phe1622Leu)
n.5135+601T>C
n.5053T>C
n.4542+14631T>C
2g.227007417A>TCA351140049COL4A4c.583T>A (p.Phe195Ile)
c.4981T>A (p.Phe1661Ile)
c.4426T>A (p.Phe1476Ile)
c.4792T>A (p.Phe1598Ile)
c.4809+601T>A (n.4809+601T>A)
c.4216+14631T>A (n.4216+14631T>A)
c.4900T>A (p.Phe1634Ile)
c.4873T>A (p.Phe1625Ile)
c.3307T>A (p.Phe1103Ile)
n.5119+601T>A
n.4526+14631T>A
c.4864T>A (p.Phe1622Ile)
n.5135+601T>A
n.5053T>A
n.4542+14631T>A
2g.227007418C>ACA351140050COL4A4c.582G>T (p.Gln194His)
c.4980G>T (p.Gln1660His)
c.4425G>T (p.Gln1475His)
c.4791G>T (p.Gln1597His)
c.4809+600G>T (n.4809+600G>T)
c.4216+14630G>T (n.4216+14630G>T)
c.4899G>T (p.Gln1633His)
c.4872G>T (p.Gln1624His)
c.3306G>T (p.Gln1102His)
n.5119+600G>T
n.4526+14630G>T
c.4863G>T (p.Gln1621His)
n.5135+600G>T
n.5052G>T
n.4542+14630G>T
2g.227007418C>GCA351140051COL4A4c.582G>C (p.Gln194His)
c.4980G>C (p.Gln1660His)
c.4425G>C (p.Gln1475His)
c.4791G>C (p.Gln1597His)
c.4809+600G>C (n.4809+600G>C)
c.4216+14630G>C (n.4216+14630G>C)
c.4899G>C (p.Gln1633His)
c.4872G>C (p.Gln1624His)
c.3306G>C (p.Gln1102His)
n.5119+600G>C
n.4526+14630G>C
c.4863G>C (p.Gln1621His)
n.5135+600G>C
n.5052G>C
n.4542+14630G>C
2g.227007418C>TCA431671776COL4A4c.582G>A (p.Gln194=)
c.4980G>A (p.Gln1660=)
c.4425G>A (p.Gln1475=)
c.4791G>A (p.Gln1597=)
c.4809+600G>A (n.4809+600G>A)
c.4216+14630G>A (n.4216+14630G>A)
c.4899G>A (p.Gln1633=)
c.4872G>A (p.Gln1624=)
c.3306G>A (p.Gln1102=)
n.5119+600G>A
n.4526+14630G>A
c.4863G>A (p.Gln1621=)
n.5135+600G>A
n.5052G>A
n.4542+14630G>A
 COSMIC
2g.227007419T>ACA351140054COL4A4c.581A>T (p.Gln194Leu)
c.4979A>T (p.Gln1660Leu)
c.4424A>T (p.Gln1475Leu)
c.4790A>T (p.Gln1597Leu)
c.4809+599A>T (n.4809+599A>T)
c.4216+14629A>T (n.4216+14629A>T)
c.4898A>T (p.Gln1633Leu)
c.4871A>T (p.Gln1624Leu)
c.3305A>T (p.Gln1102Leu)
n.5119+599A>T
n.4526+14629A>T
c.4862A>T (p.Gln1621Leu)
n.5135+599A>T
n.5051A>T
n.4542+14629A>T
2g.227007419T>CCA351140053COL4A4c.581A>G (p.Gln194Arg)
c.4979A>G (p.Gln1660Arg)
c.4424A>G (p.Gln1475Arg)
c.4790A>G (p.Gln1597Arg)
c.4809+599A>G (n.4809+599A>G)
c.4216+14629A>G (n.4216+14629A>G)
c.4898A>G (p.Gln1633Arg)
c.4871A>G (p.Gln1624Arg)
c.3305A>G (p.Gln1102Arg)
n.5119+599A>G
n.4526+14629A>G
c.4862A>G (p.Gln1621Arg)
n.5135+599A>G
n.5051A>G
n.4542+14629A>G
2g.227007419T>GCA351140052COL4A4c.581A>C (p.Gln194Pro)
c.4979A>C (p.Gln1660Pro)
c.4424A>C (p.Gln1475Pro)
c.4790A>C (p.Gln1597Pro)
c.4809+599A>C (n.4809+599A>C)
c.4216+14629A>C (n.4216+14629A>C)
c.4898A>C (p.Gln1633Pro)
c.4871A>C (p.Gln1624Pro)
c.3305A>C (p.Gln1102Pro)
n.5119+599A>C
n.4526+14629A>C
c.4862A>C (p.Gln1621Pro)
n.5135+599A>C
n.5051A>C
n.4542+14629A>C
 gnomAD v4
2g.227007420G>ACA351140055COL4A4c.580C>T (p.Gln194Ter)
c.4978C>T (p.Gln1660Ter)
c.4423C>T (p.Gln1475Ter)
c.4789C>T (p.Gln1597Ter)
c.4809+598C>T (n.4809+598C>T)
c.4216+14628C>T (n.4216+14628C>T)
c.4897C>T (p.Gln1633Ter)
c.4870C>T (p.Gln1624Ter)
c.3304C>T (p.Gln1102Ter)
n.5119+598C>T
n.4526+14628C>T
c.4861C>T (p.Gln1621Ter)
n.5135+598C>T
n.5050C>T
n.4542+14628C>T
2g.227007420G>CCA351140056COL4A4c.580C>G (p.Gln194Glu)
c.4978C>G (p.Gln1660Glu)
c.4423C>G (p.Gln1475Glu)
c.4789C>G (p.Gln1597Glu)
c.4809+598C>G (n.4809+598C>G)
c.4216+14628C>G (n.4216+14628C>G)
c.4897C>G (p.Gln1633Glu)
c.4870C>G (p.Gln1624Glu)
c.3304C>G (p.Gln1102Glu)
n.5119+598C>G
n.4526+14628C>G
c.4861C>G (p.Gln1621Glu)
n.5135+598C>G
n.5050C>G
n.4542+14628C>G
 gnomAD v4
2g.227007420G=CA1332723576COL4A4c.580C= (p.Gln194=)
c.4978C= (p.Gln1660=)
c.4423C= (p.Gln1475=)
c.4789C= (p.Gln1597=)
c.4809+598C= (n.4809+598C=)
c.4216+14628C= (n.4216+14628C=)
c.4897C= (p.Gln1633=)
c.4870C= (p.Gln1624=)
c.3304C= (p.Gln1102=)
n.5119+598C=
n.4526+14628C=
c.4861C= (p.Gln1621=)
n.5135+598C=
n.5050C=
n.4542+14628C=
2g.227007420G>TCA2144004COL4A4c.580C>A (p.Gln194Lys)
c.4978C>A (p.Gln1660Lys)
c.4423C>A (p.Gln1475Lys)
c.4789C>A (p.Gln1597Lys)
c.4809+598C>A (n.4809+598C>A)
c.4216+14628C>A (n.4216+14628C>A)
c.4897C>A (p.Gln1633Lys)
c.4870C>A (p.Gln1624Lys)
c.3304C>A (p.Gln1102Lys)
n.5119+598C>A
n.4526+14628C>A
c.4861C>A (p.Gln1621Lys)
n.5135+598C>A
n.5050C>A
n.4542+14628C>A
 dbSNP ExAC gnomAD v2
2g.227007421C>ACA351140057COL4A4c.579G>T (p.Leu193Phe)
c.4977G>T (p.Leu1659Phe)
c.4422G>T (p.Leu1474Phe)
c.4788G>T (p.Leu1596Phe)
c.4809+597G>T (n.4809+597G>T)
c.4216+14627G>T (n.4216+14627G>T)
c.4896G>T (p.Leu1632Phe)
c.4869G>T (p.Leu1623Phe)
c.3303G>T (p.Leu1101Phe)
n.5119+597G>T
n.4526+14627G>T
c.4860G>T (p.Leu1620Phe)
n.5135+597G>T
n.5049G>T
n.4542+14627G>T
 dbSNP
2g.227007421C=CA1332723577COL4A4c.579G= (p.Leu193=)
c.4977G= (p.Leu1659=)
c.4422G= (p.Leu1474=)
c.4788G= (p.Leu1596=)
c.4809+597G= (n.4809+597G=)
c.4216+14627G= (n.4216+14627G=)
c.4896G= (p.Leu1632=)
c.4869G= (p.Leu1623=)
c.3303G= (p.Leu1101=)
n.5119+597G=
n.4526+14627G=
c.4860G= (p.Leu1620=)
n.5135+597G=
n.5049G=
n.4542+14627G=
2g.227007421C>GCA351140058COL4A4c.579G>C (p.Leu193Phe)
c.4977G>C (p.Leu1659Phe)
c.4422G>C (p.Leu1474Phe)
c.4788G>C (p.Leu1596Phe)
c.4809+597G>C (n.4809+597G>C)
c.4216+14627G>C (n.4216+14627G>C)
c.4896G>C (p.Leu1632Phe)
c.4869G>C (p.Leu1623Phe)
c.3303G>C (p.Leu1101Phe)
n.5119+597G>C
n.4526+14627G>C
c.4860G>C (p.Leu1620Phe)
n.5135+597G>C
n.5049G>C
n.4542+14627G>C
2g.227007421C>TCA431671780COL4A4c.579G>A (p.Leu193=)
c.4977G>A (p.Leu1659=)
c.4422G>A (p.Leu1474=)
c.4788G>A (p.Leu1596=)
c.4809+597G>A (n.4809+597G>A)
c.4216+14627G>A (n.4216+14627G>A)
c.4896G>A (p.Leu1632=)
c.4869G>A (p.Leu1623=)
c.3303G>A (p.Leu1101=)
n.5119+597G>A
n.4526+14627G>A
c.4860G>A (p.Leu1620=)
n.5135+597G>A
n.5049G>A
n.4542+14627G>A
2g.227007422A=CA1332723578COL4A4c.578T= (p.Leu193=)
c.4976T= (p.Leu1659=)
c.4421T= (p.Leu1474=)
c.4787T= (p.Leu1596=)
c.4809+596T= (n.4809+596T=)
c.4216+14626T= (n.4216+14626T=)
c.4895T= (p.Leu1632=)
c.4868T= (p.Leu1623=)
c.3302T= (p.Leu1101=)
n.5119+596T=
n.4526+14626T=
c.4859T= (p.Leu1620=)
n.5135+596T=
n.5048T=
n.4542+14626T=
2g.227007422A>CCA351140059COL4A4c.578T>G (p.Leu193Trp)
c.4976T>G (p.Leu1659Trp)
c.4421T>G (p.Leu1474Trp)
c.4787T>G (p.Leu1596Trp)
c.4809+596T>G (n.4809+596T>G)
c.4216+14626T>G (n.4216+14626T>G)
c.4895T>G (p.Leu1632Trp)
c.4868T>G (p.Leu1623Trp)
c.3302T>G (p.Leu1101Trp)
n.5119+596T>G
n.4526+14626T>G
c.4859T>G (p.Leu1620Trp)
n.5135+596T>G
n.5048T>G
n.4542+14626T>G
 dbSNP
2g.227007422A>GCA351140060COL4A4c.578T>C (p.Leu193Ser)
c.4976T>C (p.Leu1659Ser)
c.4421T>C (p.Leu1474Ser)
c.4787T>C (p.Leu1596Ser)
c.4809+596T>C (n.4809+596T>C)
c.4216+14626T>C (n.4216+14626T>C)
c.4895T>C (p.Leu1632Ser)
c.4868T>C (p.Leu1623Ser)
c.3302T>C (p.Leu1101Ser)
n.5119+596T>C
n.4526+14626T>C
c.4859T>C (p.Leu1620Ser)
n.5135+596T>C
n.5048T>C
n.4542+14626T>C
2g.227007422A>TCA351140061COL4A4c.578T>A (p.Leu193Ter)
c.4976T>A (p.Leu1659Ter)
c.4421T>A (p.Leu1474Ter)
c.4787T>A (p.Leu1596Ter)
c.4809+596T>A (n.4809+596T>A)
c.4216+14626T>A (n.4216+14626T>A)
c.4895T>A (p.Leu1632Ter)
c.4868T>A (p.Leu1623Ter)
c.3302T>A (p.Leu1101Ter)
n.5119+596T>A
n.4526+14626T>A
c.4859T>A (p.Leu1620Ter)
n.5135+596T>A
n.5048T>A
n.4542+14626T>A
2g.227007422_227007423delCA2739278232COL4A4c.577_578del (p.Leu193AlafsTer?)
c.4975_4976del (p.Leu1659AlafsTer?)
c.4420_4421del (p.Leu1474AlafsTer?)
c.4786_4787del (p.Leu1596AlafsTer?)
c.4809+595_4809+596del (n.4809+595_4809+596del)
c.4216+14625_4216+14626del (n.4216+14625_4216+14626del)
c.4894_4895del (p.Leu1632AlafsTer?)
c.4867_4868del (p.Leu1623AlafsTer?)
c.3301_3302del (p.Leu1101AlafsTer?)
n.5119+595_5119+596del
n.4526+14625_4526+14626del
c.4858_4859del (p.Leu1620AlafsTer?)
n.5135+595_5135+596del
n.5047_5048del
n.4542+14625_4542+14626del
 ClinVar
2g.227007423A=CA1332723579COL4A4c.577T= (p.Leu193=)
c.4975T= (p.Leu1659=)
c.4420T= (p.Leu1474=)
c.4786T= (p.Leu1596=)
c.4809+595T= (n.4809+595T=)
c.4216+14625T= (n.4216+14625T=)
c.4894T= (p.Leu1632=)
c.4867T= (p.Leu1623=)
c.3301T= (p.Leu1101=)
n.5119+595T=
n.4526+14625T=
c.4858T= (p.Leu1620=)
n.5135+595T=
n.5047T=
n.4542+14625T=
2g.227007423A>CCA351140062COL4A4c.577T>G (p.Leu193Val)
c.4975T>G (p.Leu1659Val)
c.4420T>G (p.Leu1474Val)
c.4786T>G (p.Leu1596Val)
c.4809+595T>G (n.4809+595T>G)
c.4216+14625T>G (n.4216+14625T>G)
c.4894T>G (p.Leu1632Val)
c.4867T>G (p.Leu1623Val)
c.3301T>G (p.Leu1101Val)
n.5119+595T>G
n.4526+14625T>G
c.4858T>G (p.Leu1620Val)
n.5135+595T>G
n.5047T>G
n.4542+14625T>G
2g.227007423A>GCA2144005COL4A4c.577T>C (p.Leu193=)
c.4975T>C (p.Leu1659=)
c.4420T>C (p.Leu1474=)
c.4786T>C (p.Leu1596=)
c.4809+595T>C (n.4809+595T>C)
c.4216+14625T>C (n.4216+14625T>C)
c.4894T>C (p.Leu1632=)
c.4867T>C (p.Leu1623=)
c.3301T>C (p.Leu1101=)
n.5119+595T>C
n.4526+14625T>C
c.4858T>C (p.Leu1620=)
n.5135+595T>C
n.5047T>C
n.4542+14625T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007423A>TCA351140063COL4A4c.577T>A (p.Leu193Met)
c.4975T>A (p.Leu1659Met)
c.4420T>A (p.Leu1474Met)
c.4786T>A (p.Leu1596Met)
c.4809+595T>A (n.4809+595T>A)
c.4216+14625T>A (n.4216+14625T>A)
c.4894T>A (p.Leu1632Met)
c.4867T>A (p.Leu1623Met)
c.3301T>A (p.Leu1101Met)
n.5119+595T>A
n.4526+14625T>A
c.4858T>A (p.Leu1620Met)
n.5135+595T>A
n.5047T>A
n.4542+14625T>A
2g.227007424G>ACA431671783COL4A4c.576C>T (p.Asp192=)
c.4974C>T (p.Asp1658=)
c.4419C>T (p.Asp1473=)
c.4785C>T (p.Asp1595=)
c.4809+594C>T (n.4809+594C>T)
c.4216+14624C>T (n.4216+14624C>T)
c.4893C>T (p.Asp1631=)
c.4866C>T (p.Asp1622=)
c.3300C>T (p.Asp1100=)
n.5119+594C>T
n.4526+14624C>T
c.4857C>T (p.Asp1619=)
n.5135+594C>T
n.5046C>T
n.4542+14624C>T
2g.227007424G>CCA351140064COL4A4c.576C>G (p.Asp192Glu)
c.4974C>G (p.Asp1658Glu)
c.4419C>G (p.Asp1473Glu)
c.4785C>G (p.Asp1595Glu)
c.4809+594C>G (n.4809+594C>G)
c.4216+14624C>G (n.4216+14624C>G)
c.4893C>G (p.Asp1631Glu)
c.4866C>G (p.Asp1622Glu)
c.3300C>G (p.Asp1100Glu)
n.5119+594C>G
n.4526+14624C>G
c.4857C>G (p.Asp1619Glu)
n.5135+594C>G
n.5046C>G
n.4542+14624C>G
2g.227007424G>TCA351140065COL4A4c.576C>A (p.Asp192Glu)
c.4974C>A (p.Asp1658Glu)
c.4419C>A (p.Asp1473Glu)
c.4785C>A (p.Asp1595Glu)
c.4809+594C>A (n.4809+594C>A)
c.4216+14624C>A (n.4216+14624C>A)
c.4893C>A (p.Asp1631Glu)
c.4866C>A (p.Asp1622Glu)
c.3300C>A (p.Asp1100Glu)
n.5119+594C>A
n.4526+14624C>A
c.4857C>A (p.Asp1619Glu)
n.5135+594C>A
n.5046C>A
n.4542+14624C>A
2g.227007425T>ACA351140067COL4A4c.575A>T (p.Asp192Val)
c.4973A>T (p.Asp1658Val)
c.4418A>T (p.Asp1473Val)
c.4784A>T (p.Asp1595Val)
c.4809+593A>T (n.4809+593A>T)
c.4216+14623A>T (n.4216+14623A>T)
c.4892A>T (p.Asp1631Val)
c.4865A>T (p.Asp1622Val)
c.3299A>T (p.Asp1100Val)
n.5119+593A>T
n.4526+14623A>T
c.4856A>T (p.Asp1619Val)
n.5135+593A>T
n.5045A>T
n.4542+14623A>T
2g.227007425T>CCA351140068COL4A4c.575A>G (p.Asp192Gly)
c.4973A>G (p.Asp1658Gly)
c.4418A>G (p.Asp1473Gly)
c.4784A>G (p.Asp1595Gly)
c.4809+593A>G (n.4809+593A>G)
c.4216+14623A>G (n.4216+14623A>G)
c.4892A>G (p.Asp1631Gly)
c.4865A>G (p.Asp1622Gly)
c.3299A>G (p.Asp1100Gly)
n.5119+593A>G
n.4526+14623A>G
c.4856A>G (p.Asp1619Gly)
n.5135+593A>G
n.5045A>G
n.4542+14623A>G
2g.227007425T>GCA351140066COL4A4c.575A>C (p.Asp192Ala)
c.4973A>C (p.Asp1658Ala)
c.4418A>C (p.Asp1473Ala)
c.4784A>C (p.Asp1595Ala)
c.4809+593A>C (n.4809+593A>C)
c.4216+14623A>C (n.4216+14623A>C)
c.4892A>C (p.Asp1631Ala)
c.4865A>C (p.Asp1622Ala)
c.3299A>C (p.Asp1100Ala)
n.5119+593A>C
n.4526+14623A>C
c.4856A>C (p.Asp1619Ala)
n.5135+593A>C
n.5045A>C
n.4542+14623A>C
2g.227007426C>ACA351140069COL4A4c.574G>T (p.Asp192Tyr)
c.4972G>T (p.Asp1658Tyr)
c.4417G>T (p.Asp1473Tyr)
c.4783G>T (p.Asp1595Tyr)
c.4809+592G>T (n.4809+592G>T)
c.4216+14622G>T (n.4216+14622G>T)
c.4891G>T (p.Asp1631Tyr)
c.4864G>T (p.Asp1622Tyr)
c.3298G>T (p.Asp1100Tyr)
n.5119+592G>T
n.4526+14622G>T
c.4855G>T (p.Asp1619Tyr)
n.5135+592G>T
n.5044G>T
n.4542+14622G>T
2g.227007426C=CA1332723580COL4A4c.574G= (p.Asp192=)
c.4972G= (p.Asp1658=)
c.4417G= (p.Asp1473=)
c.4783G= (p.Asp1595=)
c.4809+592G= (n.4809+592G=)
c.4216+14622G= (n.4216+14622G=)
c.4891G= (p.Asp1631=)
c.4864G= (p.Asp1622=)
c.3298G= (p.Asp1100=)
n.5119+592G=
n.4526+14622G=
c.4855G= (p.Asp1619=)
n.5135+592G=
n.5044G=
n.4542+14622G=
2g.227007426C>GCA2144006COL4A4c.574G>C (p.Asp192His)
c.4972G>C (p.Asp1658His)
c.4417G>C (p.Asp1473His)
c.4783G>C (p.Asp1595His)
c.4809+592G>C (n.4809+592G>C)
c.4216+14622G>C (n.4216+14622G>C)
c.4891G>C (p.Asp1631His)
c.4864G>C (p.Asp1622His)
c.3298G>C (p.Asp1100His)
n.5119+592G>C
n.4526+14622G>C
c.4855G>C (p.Asp1619His)
n.5135+592G>C
n.5044G>C
n.4542+14622G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007426C>TCA351140070COL4A4c.574G>A (p.Asp192Asn)
c.4972G>A (p.Asp1658Asn)
c.4417G>A (p.Asp1473Asn)
c.4783G>A (p.Asp1595Asn)
c.4809+592G>A (n.4809+592G>A)
c.4216+14622G>A (n.4216+14622G>A)
c.4891G>A (p.Asp1631Asn)
c.4864G>A (p.Asp1622Asn)
c.3298G>A (p.Asp1100Asn)
n.5119+592G>A
n.4526+14622G>A
c.4855G>A (p.Asp1619Asn)
n.5135+592G>A
n.5044G>A
n.4542+14622G>A
2g.227007427T>ACA431671790COL4A4c.573A>T (p.Ala191=)
c.4971A>T (p.Ala1657=)
c.4416A>T (p.Ala1472=)
c.4782A>T (p.Ala1594=)
c.4809+591A>T (n.4809+591A>T)
c.4216+14621A>T (n.4216+14621A>T)
c.4890A>T (p.Ala1630=)
c.4863A>T (p.Ala1621=)
c.3297A>T (p.Ala1099=)
n.5119+591A>T
n.4526+14621A>T
c.4854A>T (p.Ala1618=)
n.5135+591A>T
n.5043A>T
n.4542+14621A>T
2g.227007427T>CCA67238235COL4A4c.573A>G (p.Ala191=)
c.4971A>G (p.Ala1657=)
c.4416A>G (p.Ala1472=)
c.4782A>G (p.Ala1594=)
c.4809+591A>G (n.4809+591A>G)
c.4216+14621A>G (n.4216+14621A>G)
c.4890A>G (p.Ala1630=)
c.4863A>G (p.Ala1621=)
c.3297A>G (p.Ala1099=)
n.5119+591A>G
n.4526+14621A>G
c.4854A>G (p.Ala1618=)
n.5135+591A>G
n.5043A>G
n.4542+14621A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227007427T>GCA431671791COL4A4c.573A>C (p.Ala191=)
c.4971A>C (p.Ala1657=)
c.4416A>C (p.Ala1472=)
c.4782A>C (p.Ala1594=)
c.4809+591A>C (n.4809+591A>C)
c.4216+14621A>C (n.4216+14621A>C)
c.4890A>C (p.Ala1630=)
c.4863A>C (p.Ala1621=)
c.3297A>C (p.Ala1099=)
n.5119+591A>C
n.4526+14621A>C
c.4854A>C (p.Ala1618=)
n.5135+591A>C
n.5043A>C
n.4542+14621A>C
2g.227007427T=CA1332723581COL4A4c.573A= (p.Ala191=)
c.4971A= (p.Ala1657=)
c.4416A= (p.Ala1472=)
c.4782A= (p.Ala1594=)
c.4809+591A= (n.4809+591A=)
c.4216+14621A= (n.4216+14621A=)
c.4890A= (p.Ala1630=)
c.4863A= (p.Ala1621=)
c.3297A= (p.Ala1099=)
n.5119+591A=
n.4526+14621A=
c.4854A= (p.Ala1618=)
n.5135+591A=
n.5043A=
n.4542+14621A=
2g.227007428G>ACA351140071COL4A4c.572C>T (p.Ala191Val)
c.4970C>T (p.Ala1657Val)
c.4415C>T (p.Ala1472Val)
c.4781C>T (p.Ala1594Val)
c.4809+590C>T (n.4809+590C>T)
c.4216+14620C>T (n.4216+14620C>T)
c.4889C>T (p.Ala1630Val)
c.4862C>T (p.Ala1621Val)
c.3296C>T (p.Ala1099Val)
n.5119+590C>T
n.4526+14620C>T
c.4853C>T (p.Ala1618Val)
n.5135+590C>T
n.5042C>T
n.4542+14620C>T
2g.227007428G>CCA67238236COL4A4c.572C>G (p.Ala191Gly)
c.4970C>G (p.Ala1657Gly)
c.4415C>G (p.Ala1472Gly)
c.4781C>G (p.Ala1594Gly)
c.4809+590C>G (n.4809+590C>G)
c.4216+14620C>G (n.4216+14620C>G)
c.4889C>G (p.Ala1630Gly)
c.4862C>G (p.Ala1621Gly)
c.3296C>G (p.Ala1099Gly)
n.5119+590C>G
n.4526+14620C>G
c.4853C>G (p.Ala1618Gly)
n.5135+590C>G
n.5042C>G
n.4542+14620C>G
 dbSNP gnomAD v4
2g.227007428G=CA1332723582COL4A4c.572C= (p.Ala191=)
c.4970C= (p.Ala1657=)
c.4415C= (p.Ala1472=)
c.4781C= (p.Ala1594=)
c.4809+590C= (n.4809+590C=)
c.4216+14620C= (n.4216+14620C=)
c.4889C= (p.Ala1630=)
c.4862C= (p.Ala1621=)
c.3296C= (p.Ala1099=)
n.5119+590C=
n.4526+14620C=
c.4853C= (p.Ala1618=)
n.5135+590C=
n.5042C=
n.4542+14620C=
2g.227007428G>TCA351140072COL4A4c.572C>A (p.Ala191Glu)
c.4970C>A (p.Ala1657Glu)
c.4415C>A (p.Ala1472Glu)
c.4781C>A (p.Ala1594Glu)
c.4809+590C>A (n.4809+590C>A)
c.4216+14620C>A (n.4216+14620C>A)
c.4889C>A (p.Ala1630Glu)
c.4862C>A (p.Ala1621Glu)
c.3296C>A (p.Ala1099Glu)
n.5119+590C>A
n.4526+14620C>A
c.4853C>A (p.Ala1618Glu)
n.5135+590C>A
n.5042C>A
n.4542+14620C>A
2g.227007429C>ACA351140073COL4A4c.571G>T (p.Ala191Ser)
c.4969G>T (p.Ala1657Ser)
c.4414G>T (p.Ala1472Ser)
c.4780G>T (p.Ala1594Ser)
c.4809+589G>T (n.4809+589G>T)
c.4216+14619G>T (n.4216+14619G>T)
c.4888G>T (p.Ala1630Ser)
c.4861G>T (p.Ala1621Ser)
c.3295G>T (p.Ala1099Ser)
n.5119+589G>T
n.4526+14619G>T
c.4852G>T (p.Ala1618Ser)
n.5135+589G>T
n.5041G>T
n.4542+14619G>T
2g.227007429C=CA1332723583COL4A4c.571G= (p.Ala191=)
c.4969G= (p.Ala1657=)
c.4414G= (p.Ala1472=)
c.4780G= (p.Ala1594=)
c.4809+589G= (n.4809+589G=)
c.4216+14619G= (n.4216+14619G=)
c.4888G= (p.Ala1630=)
c.4861G= (p.Ala1621=)
c.3295G= (p.Ala1099=)
n.5119+589G=
n.4526+14619G=
c.4852G= (p.Ala1618=)
n.5135+589G=
n.5041G=
n.4542+14619G=
2g.227007429C>GCA351140074COL4A4c.571G>C (p.Ala191Pro)
c.4969G>C (p.Ala1657Pro)
c.4414G>C (p.Ala1472Pro)
c.4780G>C (p.Ala1594Pro)
c.4809+589G>C (n.4809+589G>C)
c.4216+14619G>C (n.4216+14619G>C)
c.4888G>C (p.Ala1630Pro)
c.4861G>C (p.Ala1621Pro)
c.3295G>C (p.Ala1099Pro)
n.5119+589G>C
n.4526+14619G>C
c.4852G>C (p.Ala1618Pro)
n.5135+589G>C
n.5041G>C
n.4542+14619G>C
2g.227007429C>TCA2144007COL4A4c.571G>A (p.Ala191Thr)
c.4969G>A (p.Ala1657Thr)
c.4414G>A (p.Ala1472Thr)
c.4780G>A (p.Ala1594Thr)
c.4809+589G>A (n.4809+589G>A)
c.4216+14619G>A (n.4216+14619G>A)
c.4888G>A (p.Ala1630Thr)
c.4861G>A (p.Ala1621Thr)
c.3295G>A (p.Ala1099Thr)
n.5119+589G>A
n.4526+14619G>A
c.4852G>A (p.Ala1618Thr)
n.5135+589G>A
n.5041G>A
n.4542+14619G>A
 dbSNP ExAC gnomAD v4
2g.227007429_227007436dupCA2499215708COL4A4c.564_571dup (p.Ala191GlyfsTer2)
c.4962_4969dup (p.Ala1657GlyfsTer2)
c.4407_4414dup (p.Ala1472GlyfsTer2)
c.4773_4780dup (p.Ala1594GlyfsTer2)
c.4809+582_4809+589dup (n.4809+582_4809+589dup)
c.4216+14612_4216+14619dup (n.4216+14612_4216+14619dup)
c.4881_4888dup (p.Ala1630GlyfsTer2)
c.4854_4861dup (p.Ala1621GlyfsTer2)
c.3288_3295dup (p.Ala1099GlyfsTer2)
n.5119+582_5119+589dup
n.4526+14612_4526+14619dup
c.4845_4852dup (p.Ala1618GlyfsTer2)
n.5135+582_5135+589dup
n.5034_5041dup
n.4542+14612_4542+14619dup
 ClinVar dbSNP
2g.227007430T>ACA351140075COL4A4c.570A>T (p.Lys190Asn)
c.4968A>T (p.Lys1656Asn)
c.4413A>T (p.Lys1471Asn)
c.4779A>T (p.Lys1593Asn)
c.4809+588A>T (n.4809+588A>T)
c.4216+14618A>T (n.4216+14618A>T)
c.4887A>T (p.Lys1629Asn)
c.4860A>T (p.Lys1620Asn)
c.3294A>T (p.Lys1098Asn)
n.5119+588A>T
n.4526+14618A>T
c.4851A>T (p.Lys1617Asn)
n.5135+588A>T
n.5040A>T
n.4542+14618A>T
2g.227007430T>CCA431671799COL4A4c.570A>G (p.Lys190=)
c.4968A>G (p.Lys1656=)
c.4413A>G (p.Lys1471=)
c.4779A>G (p.Lys1593=)
c.4809+588A>G (n.4809+588A>G)
c.4216+14618A>G (n.4216+14618A>G)
c.4887A>G (p.Lys1629=)
c.4860A>G (p.Lys1620=)
c.3294A>G (p.Lys1098=)
n.5119+588A>G
n.4526+14618A>G
c.4851A>G (p.Lys1617=)
n.5135+588A>G
n.5040A>G
n.4542+14618A>G
 gnomAD v4
2g.227007430T>GCA351140076COL4A4c.570A>C (p.Lys190Asn)
c.4968A>C (p.Lys1656Asn)
c.4413A>C (p.Lys1471Asn)
c.4779A>C (p.Lys1593Asn)
c.4809+588A>C (n.4809+588A>C)
c.4216+14618A>C (n.4216+14618A>C)
c.4887A>C (p.Lys1629Asn)
c.4860A>C (p.Lys1620Asn)
c.3294A>C (p.Lys1098Asn)
n.5119+588A>C
n.4526+14618A>C
c.4851A>C (p.Lys1617Asn)
n.5135+588A>C
n.5040A>C
n.4542+14618A>C
2g.227007431T>ACA351140079COL4A4c.569A>T (p.Lys190Ile)
c.4967A>T (p.Lys1656Ile)
c.4412A>T (p.Lys1471Ile)
c.4778A>T (p.Lys1593Ile)
c.4809+587A>T (n.4809+587A>T)
c.4216+14617A>T (n.4216+14617A>T)
c.4886A>T (p.Lys1629Ile)
c.4859A>T (p.Lys1620Ile)
c.3293A>T (p.Lys1098Ile)
n.5119+587A>T
n.4526+14617A>T
c.4850A>T (p.Lys1617Ile)
n.5135+587A>T
n.5039A>T
n.4542+14617A>T
2g.227007431T>CCA351140078COL4A4c.569A>G (p.Lys190Arg)
c.4967A>G (p.Lys1656Arg)
c.4412A>G (p.Lys1471Arg)
c.4778A>G (p.Lys1593Arg)
c.4809+587A>G (n.4809+587A>G)
c.4216+14617A>G (n.4216+14617A>G)
c.4886A>G (p.Lys1629Arg)
c.4859A>G (p.Lys1620Arg)
c.3293A>G (p.Lys1098Arg)
n.5119+587A>G
n.4526+14617A>G
c.4850A>G (p.Lys1617Arg)
n.5135+587A>G
n.5039A>G
n.4542+14617A>G
2g.227007431T>GCA351140077COL4A4c.569A>C (p.Lys190Thr)
c.4967A>C (p.Lys1656Thr)
c.4412A>C (p.Lys1471Thr)
c.4778A>C (p.Lys1593Thr)
c.4809+587A>C (n.4809+587A>C)
c.4216+14617A>C (n.4216+14617A>C)
c.4886A>C (p.Lys1629Thr)
c.4859A>C (p.Lys1620Thr)
c.3293A>C (p.Lys1098Thr)
n.5119+587A>C
n.4526+14617A>C
c.4850A>C (p.Lys1617Thr)
n.5135+587A>C
n.5039A>C
n.4542+14617A>C
2g.227007432T>ACA351140080COL4A4c.568A>T (p.Lys190Ter)
c.4966A>T (p.Lys1656Ter)
c.4411A>T (p.Lys1471Ter)
c.4777A>T (p.Lys1593Ter)
c.4809+586A>T (n.4809+586A>T)
c.4216+14616A>T (n.4216+14616A>T)
c.4885A>T (p.Lys1629Ter)
c.4858A>T (p.Lys1620Ter)
c.3292A>T (p.Lys1098Ter)
n.5119+586A>T
n.4526+14616A>T
c.4849A>T (p.Lys1617Ter)
n.5135+586A>T
n.5038A>T
n.4542+14616A>T
2g.227007432T>CCA351140081COL4A4c.568A>G (p.Lys190Glu)
c.4966A>G (p.Lys1656Glu)
c.4411A>G (p.Lys1471Glu)
c.4777A>G (p.Lys1593Glu)
c.4809+586A>G (n.4809+586A>G)
c.4216+14616A>G (n.4216+14616A>G)
c.4885A>G (p.Lys1629Glu)
c.4858A>G (p.Lys1620Glu)
c.3292A>G (p.Lys1098Glu)
n.5119+586A>G
n.4526+14616A>G
c.4849A>G (p.Lys1617Glu)
n.5135+586A>G
n.5038A>G
n.4542+14616A>G
2g.227007432T>GCA351140082COL4A4c.568A>C (p.Lys190Gln)
c.4966A>C (p.Lys1656Gln)
c.4411A>C (p.Lys1471Gln)
c.4777A>C (p.Lys1593Gln)
c.4809+586A>C (n.4809+586A>C)
c.4216+14616A>C (n.4216+14616A>C)
c.4885A>C (p.Lys1629Gln)
c.4858A>C (p.Lys1620Gln)
c.3292A>C (p.Lys1098Gln)
n.5119+586A>C
n.4526+14616A>C
c.4849A>C (p.Lys1617Gln)
n.5135+586A>C
n.5038A>C
n.4542+14616A>C
2g.227007433C>ACA431671802COL4A4c.567G>T (p.Val189=)
c.4965G>T (p.Val1655=)
c.4410G>T (p.Val1470=)
c.4776G>T (p.Val1592=)
c.4809+585G>T (n.4809+585G>T)
c.4216+14615G>T (n.4216+14615G>T)
c.4884G>T (p.Val1628=)
c.4857G>T (p.Val1619=)
c.3291G>T (p.Val1097=)
n.5119+585G>T
n.4526+14615G>T
c.4848G>T (p.Val1616=)
n.5135+585G>T
n.5037G>T
n.4542+14615G>T
2g.227007433C>GCA431671803COL4A4c.567G>C (p.Val189=)
c.4965G>C (p.Val1655=)
c.4410G>C (p.Val1470=)
c.4776G>C (p.Val1592=)
c.4809+585G>C (n.4809+585G>C)
c.4216+14615G>C (n.4216+14615G>C)
c.4884G>C (p.Val1628=)
c.4857G>C (p.Val1619=)
c.3291G>C (p.Val1097=)
n.5119+585G>C
n.4526+14615G>C
c.4848G>C (p.Val1616=)
n.5135+585G>C
n.5037G>C
n.4542+14615G>C
2g.227007433C>TCA431671804COL4A4c.567G>A (p.Val189=)
c.4965G>A (p.Val1655=)
c.4410G>A (p.Val1470=)
c.4776G>A (p.Val1592=)
c.4809+585G>A (n.4809+585G>A)
c.4216+14615G>A (n.4216+14615G>A)
c.4884G>A (p.Val1628=)
c.4857G>A (p.Val1619=)
c.3291G>A (p.Val1097=)
n.5119+585G>A
n.4526+14615G>A
c.4848G>A (p.Val1616=)
n.5135+585G>A
n.5037G>A
n.4542+14615G>A
 ClinVar dbSNP gnomAD v4
2g.227007434A>CCA351140083COL4A4c.566T>G (p.Val189Gly)
c.4964T>G (p.Val1655Gly)
c.4409T>G (p.Val1470Gly)
c.4775T>G (p.Val1592Gly)
c.4809+584T>G (n.4809+584T>G)
c.4216+14614T>G (n.4216+14614T>G)
c.4883T>G (p.Val1628Gly)
c.4856T>G (p.Val1619Gly)
c.3290T>G (p.Val1097Gly)
n.5119+584T>G
n.4526+14614T>G
c.4847T>G (p.Val1616Gly)
n.5135+584T>G
n.5036T>G
n.4542+14614T>G
2g.227007434A>GCA351140084COL4A4c.566T>C (p.Val189Ala)
c.4964T>C (p.Val1655Ala)
c.4409T>C (p.Val1470Ala)
c.4775T>C (p.Val1592Ala)
c.4809+584T>C (n.4809+584T>C)
c.4216+14614T>C (n.4216+14614T>C)
c.4883T>C (p.Val1628Ala)
c.4856T>C (p.Val1619Ala)
c.3290T>C (p.Val1097Ala)
n.5119+584T>C
n.4526+14614T>C
c.4847T>C (p.Val1616Ala)
n.5135+584T>C
n.5036T>C
n.4542+14614T>C
2g.227007434A>TCA351140085COL4A4c.566T>A (p.Val189Glu)
c.4964T>A (p.Val1655Glu)
c.4409T>A (p.Val1470Glu)
c.4775T>A (p.Val1592Glu)
c.4809+584T>A (n.4809+584T>A)
c.4216+14614T>A (n.4216+14614T>A)
c.4883T>A (p.Val1628Glu)
c.4856T>A (p.Val1619Glu)
c.3290T>A (p.Val1097Glu)
n.5119+584T>A
n.4526+14614T>A
c.4847T>A (p.Val1616Glu)
n.5135+584T>A
n.5036T>A
n.4542+14614T>A
2g.227007435C>ACA351140086COL4A4c.565G>T (p.Val189Leu)
c.4963G>T (p.Val1655Leu)
c.4408G>T (p.Val1470Leu)
c.4774G>T (p.Val1592Leu)
c.4809+583G>T (n.4809+583G>T)
c.4216+14613G>T (n.4216+14613G>T)
c.4882G>T (p.Val1628Leu)
c.4855G>T (p.Val1619Leu)
c.3289G>T (p.Val1097Leu)
n.5119+583G>T
n.4526+14613G>T
c.4846G>T (p.Val1616Leu)
n.5135+583G>T
n.5035G>T
n.4542+14613G>T
 dbSNP
2g.227007435C=CA1332723584COL4A4c.565G= (p.Val189=)
c.4963G= (p.Val1655=)
c.4408G= (p.Val1470=)
c.4774G= (p.Val1592=)
c.4809+583G= (n.4809+583G=)
c.4216+14613G= (n.4216+14613G=)
c.4882G= (p.Val1628=)
c.4855G= (p.Val1619=)
c.3289G= (p.Val1097=)
n.5119+583G=
n.4526+14613G=
c.4846G= (p.Val1616=)
n.5135+583G=
n.5035G=
n.4542+14613G=
2g.227007435C>GCA351140087COL4A4c.565G>C (p.Val189Leu)
c.4963G>C (p.Val1655Leu)
c.4408G>C (p.Val1470Leu)
c.4774G>C (p.Val1592Leu)
c.4809+583G>C (n.4809+583G>C)
c.4216+14613G>C (n.4216+14613G>C)
c.4882G>C (p.Val1628Leu)
c.4855G>C (p.Val1619Leu)
c.3289G>C (p.Val1097Leu)
n.5119+583G>C
n.4526+14613G>C
c.4846G>C (p.Val1616Leu)
n.5135+583G>C
n.5035G>C
n.4542+14613G>C
2g.227007435C>TCA351140088COL4A4c.565G>A (p.Val189Met)
c.4963G>A (p.Val1655Met)
c.4408G>A (p.Val1470Met)
c.4774G>A (p.Val1592Met)
c.4809+583G>A (n.4809+583G>A)
c.4216+14613G>A (n.4216+14613G>A)
c.4882G>A (p.Val1628Met)
c.4855G>A (p.Val1619Met)
c.3289G>A (p.Val1097Met)
n.5119+583G>A
n.4526+14613G>A
c.4846G>A (p.Val1616Met)
n.5135+583G>A
n.5035G>A
n.4542+14613G>A
 COSMIC
2g.227007436C>ACA431671810COL4A4c.564G>T (p.Thr188=)
c.4962G>T (p.Thr1654=)
c.4407G>T (p.Thr1469=)
c.4773G>T (p.Thr1591=)
c.4809+582G>T (n.4809+582G>T)
c.4216+14612G>T (n.4216+14612G>T)
c.4881G>T (p.Thr1627=)
c.4854G>T (p.Thr1618=)
c.3288G>T (p.Thr1096=)
n.5119+582G>T
n.4526+14612G>T
c.4845G>T (p.Thr1615=)
n.5135+582G>T
n.5034G>T
n.4542+14612G>T
2g.227007436C=CA1332723585COL4A4c.564G= (p.Thr188=)
c.4962G= (p.Thr1654=)
c.4407G= (p.Thr1469=)
c.4773G= (p.Thr1591=)
c.4809+582G= (n.4809+582G=)
c.4216+14612G= (n.4216+14612G=)
c.4881G= (p.Thr1627=)
c.4854G= (p.Thr1618=)
c.3288G= (p.Thr1096=)
n.5119+582G=
n.4526+14612G=
c.4845G= (p.Thr1615=)
n.5135+582G=
n.5034G=
n.4542+14612G=
2g.227007436C>GCA2144009COL4A4c.564G>C (p.Thr188=)
c.4962G>C (p.Thr1654=)
c.4407G>C (p.Thr1469=)
c.4773G>C (p.Thr1591=)
c.4809+582G>C (n.4809+582G>C)
c.4216+14612G>C (n.4216+14612G>C)
c.4881G>C (p.Thr1627=)
c.4854G>C (p.Thr1618=)
c.3288G>C (p.Thr1096=)
n.5119+582G>C
n.4526+14612G>C
c.4845G>C (p.Thr1615=)
n.5135+582G>C
n.5034G>C
n.4542+14612G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007436C>TCA2144008COL4A4c.564G>A (p.Thr188=)
c.4962G>A (p.Thr1654=)
c.4407G>A (p.Thr1469=)
c.4773G>A (p.Thr1591=)
c.4809+582G>A (n.4809+582G>A)
c.4216+14612G>A (n.4216+14612G>A)
c.4881G>A (p.Thr1627=)
c.4854G>A (p.Thr1618=)
c.3288G>A (p.Thr1096=)
n.5119+582G>A
n.4526+14612G>A
c.4845G>A (p.Thr1615=)
n.5135+582G>A
n.5034G>A
n.4542+14612G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007437G>ACA2144010COL4A4c.563C>T (p.Thr188Met)
c.4961C>T (p.Thr1654Met)
c.4406C>T (p.Thr1469Met)
c.4772C>T (p.Thr1591Met)
c.4809+581C>T (n.4809+581C>T)
c.4216+14611C>T (n.4216+14611C>T)
c.4880C>T (p.Thr1627Met)
c.4853C>T (p.Thr1618Met)
c.3287C>T (p.Thr1096Met)
n.5119+581C>T
n.4526+14611C>T
c.4844C>T (p.Thr1615Met)
n.5135+581C>T
n.5033C>T
n.4542+14611C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227007437G>CCA351140090COL4A4c.563C>G (p.Thr188Arg)
c.4961C>G (p.Thr1654Arg)
c.4406C>G (p.Thr1469Arg)
c.4772C>G (p.Thr1591Arg)
c.4809+581C>G (n.4809+581C>G)
c.4216+14611C>G (n.4216+14611C>G)
c.4880C>G (p.Thr1627Arg)
c.4853C>G (p.Thr1618Arg)
c.3287C>G (p.Thr1096Arg)
n.5119+581C>G
n.4526+14611C>G
c.4844C>G (p.Thr1615Arg)
n.5135+581C>G
n.5033C>G
n.4542+14611C>G
2g.227007437G=CA1332723586COL4A4c.563C= (p.Thr188=)
c.4961C= (p.Thr1654=)
c.4406C= (p.Thr1469=)
c.4772C= (p.Thr1591=)
c.4809+581C= (n.4809+581C=)
c.4216+14611C= (n.4216+14611C=)
c.4880C= (p.Thr1627=)
c.4853C= (p.Thr1618=)
c.3287C= (p.Thr1096=)
n.5119+581C=
n.4526+14611C=
c.4844C= (p.Thr1615=)
n.5135+581C=
n.5033C=
n.4542+14611C=
2g.227007437G>TCA351140089COL4A4c.563C>A (p.Thr188Lys)
c.4961C>A (p.Thr1654Lys)
c.4406C>A (p.Thr1469Lys)
c.4772C>A (p.Thr1591Lys)
c.4809+581C>A (n.4809+581C>A)
c.4216+14611C>A (n.4216+14611C>A)
c.4880C>A (p.Thr1627Lys)
c.4853C>A (p.Thr1618Lys)
c.3287C>A (p.Thr1096Lys)
n.5119+581C>A
n.4526+14611C>A
c.4844C>A (p.Thr1615Lys)
n.5135+581C>A
n.5033C>A
n.4542+14611C>A
2g.227007438T>ACA351140091COL4A4c.562A>T (p.Thr188Ser)
c.4960A>T (p.Thr1654Ser)
c.4405A>T (p.Thr1469Ser)
c.4771A>T (p.Thr1591Ser)
c.4809+580A>T (n.4809+580A>T)
c.4216+14610A>T (n.4216+14610A>T)
c.4879A>T (p.Thr1627Ser)
c.4852A>T (p.Thr1618Ser)
c.3286A>T (p.Thr1096Ser)
n.5119+580A>T
n.4526+14610A>T
c.4843A>T (p.Thr1615Ser)
n.5135+580A>T
n.5032A>T
n.4542+14610A>T
2g.227007438T>CCA351140092COL4A4c.562A>G (p.Thr188Ala)
c.4960A>G (p.Thr1654Ala)
c.4405A>G (p.Thr1469Ala)
c.4771A>G (p.Thr1591Ala)
c.4809+580A>G (n.4809+580A>G)
c.4216+14610A>G (n.4216+14610A>G)
c.4879A>G (p.Thr1627Ala)
c.4852A>G (p.Thr1618Ala)
c.3286A>G (p.Thr1096Ala)
n.5119+580A>G
n.4526+14610A>G
c.4843A>G (p.Thr1615Ala)
n.5135+580A>G
n.5032A>G
n.4542+14610A>G
2g.227007438T>GCA351140093COL4A4c.562A>C (p.Thr188Pro)
c.4960A>C (p.Thr1654Pro)
c.4405A>C (p.Thr1469Pro)
c.4771A>C (p.Thr1591Pro)
c.4809+580A>C (n.4809+580A>C)
c.4216+14610A>C (n.4216+14610A>C)
c.4879A>C (p.Thr1627Pro)
c.4852A>C (p.Thr1618Pro)
c.3286A>C (p.Thr1096Pro)
n.5119+580A>C
n.4526+14610A>C
c.4843A>C (p.Thr1615Pro)
n.5135+580A>C
n.5032A>C
n.4542+14610A>C
2g.227007439T>ACA431671812COL4A4c.561A>T (p.Thr187=)
c.4959A>T (p.Thr1653=)
c.4404A>T (p.Thr1468=)
c.4770A>T (p.Thr1590=)
c.4809+579A>T (n.4809+579A>T)
c.4216+14609A>T (n.4216+14609A>T)
c.4878A>T (p.Thr1626=)
c.4851A>T (p.Thr1617=)
c.3285A>T (p.Thr1095=)
n.5119+579A>T
n.4526+14609A>T
c.4842A>T (p.Thr1614=)
n.5135+579A>T
n.5031A>T
n.4542+14609A>T
 gnomAD v4
2g.227007439T>CCA2144011COL4A4c.561A>G (p.Thr187=)
c.4959A>G (p.Thr1653=)
c.4404A>G (p.Thr1468=)
c.4770A>G (p.Thr1590=)
c.4809+579A>G (n.4809+579A>G)
c.4216+14609A>G (n.4216+14609A>G)
c.4878A>G (p.Thr1626=)
c.4851A>G (p.Thr1617=)
c.3285A>G (p.Thr1095=)
n.5119+579A>G
n.4526+14609A>G
c.4842A>G (p.Thr1614=)
n.5135+579A>G
n.5031A>G
n.4542+14609A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007439T>GCA431671813COL4A4c.561A>C (p.Thr187=)
c.4959A>C (p.Thr1653=)
c.4404A>C (p.Thr1468=)
c.4770A>C (p.Thr1590=)
c.4809+579A>C (n.4809+579A>C)
c.4216+14609A>C (n.4216+14609A>C)
c.4878A>C (p.Thr1626=)
c.4851A>C (p.Thr1617=)
c.3285A>C (p.Thr1095=)
n.5119+579A>C
n.4526+14609A>C
c.4842A>C (p.Thr1614=)
n.5135+579A>C
n.5031A>C
n.4542+14609A>C
2g.227007439T=CA1332723587COL4A4c.561A= (p.Thr187=)
c.4959A= (p.Thr1653=)
c.4404A= (p.Thr1468=)
c.4770A= (p.Thr1590=)
c.4809+579A= (n.4809+579A=)
c.4216+14609A= (n.4216+14609A=)
c.4878A= (p.Thr1626=)
c.4851A= (p.Thr1617=)
c.3285A= (p.Thr1095=)
n.5119+579A=
n.4526+14609A=
c.4842A= (p.Thr1614=)
n.5135+579A=
n.5031A=
n.4542+14609A=
2g.227007440G>ACA351140094COL4A4c.560C>T (p.Thr187Ile)
c.4958C>T (p.Thr1653Ile)
c.4403C>T (p.Thr1468Ile)
c.4769C>T (p.Thr1590Ile)
c.4809+578C>T (n.4809+578C>T)
c.4216+14608C>T (n.4216+14608C>T)
c.4877C>T (p.Thr1626Ile)
c.4850C>T (p.Thr1617Ile)
c.3284C>T (p.Thr1095Ile)
n.5119+578C>T
n.4526+14608C>T
c.4841C>T (p.Thr1614Ile)
n.5135+578C>T
n.5030C>T
n.4542+14608C>T
 ClinVar
2g.227007440G>CCA351140095COL4A4c.560C>G (p.Thr187Arg)
c.4958C>G (p.Thr1653Arg)
c.4403C>G (p.Thr1468Arg)
c.4769C>G (p.Thr1590Arg)
c.4809+578C>G (n.4809+578C>G)
c.4216+14608C>G (n.4216+14608C>G)
c.4877C>G (p.Thr1626Arg)
c.4850C>G (p.Thr1617Arg)
c.3284C>G (p.Thr1095Arg)
n.5119+578C>G
n.4526+14608C>G
c.4841C>G (p.Thr1614Arg)
n.5135+578C>G
n.5030C>G
n.4542+14608C>G
2g.227007440G>TCA351140096COL4A4c.560C>A (p.Thr187Lys)
c.4958C>A (p.Thr1653Lys)
c.4403C>A (p.Thr1468Lys)
c.4769C>A (p.Thr1590Lys)
c.4809+578C>A (n.4809+578C>A)
c.4216+14608C>A (n.4216+14608C>A)
c.4877C>A (p.Thr1626Lys)
c.4850C>A (p.Thr1617Lys)
c.3284C>A (p.Thr1095Lys)
n.5119+578C>A
n.4526+14608C>A
c.4841C>A (p.Thr1614Lys)
n.5135+578C>A
n.5030C>A
n.4542+14608C>A
2g.227007441T>ACA351140097COL4A4c.559A>T (p.Thr187Ser)
c.4957A>T (p.Thr1653Ser)
c.4402A>T (p.Thr1468Ser)
c.4768A>T (p.Thr1590Ser)
c.4809+577A>T (n.4809+577A>T)
c.4216+14607A>T (n.4216+14607A>T)
c.4876A>T (p.Thr1626Ser)
c.4849A>T (p.Thr1617Ser)
c.3283A>T (p.Thr1095Ser)
n.5119+577A>T
n.4526+14607A>T
c.4840A>T (p.Thr1614Ser)
n.5135+577A>T
n.5029A>T
n.4542+14607A>T
2g.227007441T>CCA351140098COL4A4c.559A>G (p.Thr187Ala)
c.4957A>G (p.Thr1653Ala)
c.4402A>G (p.Thr1468Ala)
c.4768A>G (p.Thr1590Ala)
c.4809+577A>G (n.4809+577A>G)
c.4216+14607A>G (n.4216+14607A>G)
c.4876A>G (p.Thr1626Ala)
c.4849A>G (p.Thr1617Ala)
c.3283A>G (p.Thr1095Ala)
n.5119+577A>G
n.4526+14607A>G
c.4840A>G (p.Thr1614Ala)
n.5135+577A>G
n.5029A>G
n.4542+14607A>G
2g.227007441T>GCA351140099COL4A4c.559A>C (p.Thr187Pro)
c.4957A>C (p.Thr1653Pro)
c.4402A>C (p.Thr1468Pro)
c.4768A>C (p.Thr1590Pro)
c.4809+577A>C (n.4809+577A>C)
c.4216+14607A>C (n.4216+14607A>C)
c.4876A>C (p.Thr1626Pro)
c.4849A>C (p.Thr1617Pro)
c.3283A>C (p.Thr1095Pro)
n.5119+577A>C
n.4526+14607A>C
c.4840A>C (p.Thr1614Pro)
n.5135+577A>C
n.5029A>C
n.4542+14607A>C
2g.227007442G>ACA2144012COL4A4c.558C>T (p.Leu186=)
c.4956C>T (p.Leu1652=)
c.4401C>T (p.Leu1467=)
c.4767C>T (p.Leu1589=)
c.4809+576C>T (n.4809+576C>T)
c.4216+14606C>T (n.4216+14606C>T)
c.4875C>T (p.Leu1625=)
c.4848C>T (p.Leu1616=)
c.3282C>T (p.Leu1094=)
n.5119+576C>T
n.4526+14606C>T
c.4839C>T (p.Leu1613=)
n.5135+576C>T
n.5028C>T
n.4542+14606C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227007442G>CCA431671821COL4A4c.558C>G (p.Leu186=)
c.4956C>G (p.Leu1652=)
c.4401C>G (p.Leu1467=)
c.4767C>G (p.Leu1589=)
c.4809+576C>G (n.4809+576C>G)
c.4216+14606C>G (n.4216+14606C>G)
c.4875C>G (p.Leu1625=)
c.4848C>G (p.Leu1616=)
c.3282C>G (p.Leu1094=)
n.5119+576C>G
n.4526+14606C>G
c.4839C>G (p.Leu1613=)
n.5135+576C>G
n.5028C>G
n.4542+14606C>G
2g.227007442G=CA1332723588COL4A4c.558C= (p.Leu186=)
c.4956C= (p.Leu1652=)
c.4401C= (p.Leu1467=)
c.4767C= (p.Leu1589=)
c.4809+576C= (n.4809+576C=)
c.4216+14606C= (n.4216+14606C=)
c.4875C= (p.Leu1625=)
c.4848C= (p.Leu1616=)
c.3282C= (p.Leu1094=)
n.5119+576C=
n.4526+14606C=
c.4839C= (p.Leu1613=)
n.5135+576C=
n.5028C=
n.4542+14606C=
2g.227007442G>TCA431671819COL4A4c.558C>A (p.Leu186=)
c.4956C>A (p.Leu1652=)
c.4401C>A (p.Leu1467=)
c.4767C>A (p.Leu1589=)
c.4809+576C>A (n.4809+576C>A)
c.4216+14606C>A (n.4216+14606C>A)
c.4875C>A (p.Leu1625=)
c.4848C>A (p.Leu1616=)
c.3282C>A (p.Leu1094=)
n.5119+576C>A
n.4526+14606C>A
c.4839C>A (p.Leu1613=)
n.5135+576C>A
n.5028C>A
n.4542+14606C>A
2g.227007443A>CCA351140101COL4A4c.557T>G (p.Leu186Arg)
c.4955T>G (p.Leu1652Arg)
c.4400T>G (p.Leu1467Arg)
c.4766T>G (p.Leu1589Arg)
c.4809+575T>G (n.4809+575T>G)
c.4216+14605T>G (n.4216+14605T>G)
c.4874T>G (p.Leu1625Arg)
c.4847T>G (p.Leu1616Arg)
c.3281T>G (p.Leu1094Arg)
n.5119+575T>G
n.4526+14605T>G
c.4838T>G (p.Leu1613Arg)
n.5135+575T>G
n.5027T>G
n.4542+14605T>G
2g.227007443A>GCA351140102COL4A4c.557T>C (p.Leu186Pro)
c.4955T>C (p.Leu1652Pro)
c.4400T>C (p.Leu1467Pro)
c.4766T>C (p.Leu1589Pro)
c.4809+575T>C (n.4809+575T>C)
c.4216+14605T>C (n.4216+14605T>C)
c.4874T>C (p.Leu1625Pro)
c.4847T>C (p.Leu1616Pro)
c.3281T>C (p.Leu1094Pro)
n.5119+575T>C
n.4526+14605T>C
c.4838T>C (p.Leu1613Pro)
n.5135+575T>C
n.5027T>C
n.4542+14605T>C
2g.227007443A>TCA351140100COL4A4c.557T>A (p.Leu186His)
c.4955T>A (p.Leu1652His)
c.4400T>A (p.Leu1467His)
c.4766T>A (p.Leu1589His)
c.4809+575T>A (n.4809+575T>A)
c.4216+14605T>A (n.4216+14605T>A)
c.4874T>A (p.Leu1625His)
c.4847T>A (p.Leu1616His)
c.3281T>A (p.Leu1094His)
n.5119+575T>A
n.4526+14605T>A
c.4838T>A (p.Leu1613His)
n.5135+575T>A
n.5027T>A
n.4542+14605T>A
2g.227007444G>ACA351140103COL4A4c.556C>T (p.Leu186Phe)
c.4954C>T (p.Leu1652Phe)
c.4399C>T (p.Leu1467Phe)
c.4765C>T (p.Leu1589Phe)
c.4809+574C>T (n.4809+574C>T)
c.4216+14604C>T (n.4216+14604C>T)
c.4873C>T (p.Leu1625Phe)
c.4846C>T (p.Leu1616Phe)
c.3280C>T (p.Leu1094Phe)
n.5119+574C>T
n.4526+14604C>T
c.4837C>T (p.Leu1613Phe)
n.5135+574C>T
n.5026C>T
n.4542+14604C>T
2g.227007444G>CCA351140104COL4A4c.556C>G (p.Leu186Val)
c.4954C>G (p.Leu1652Val)
c.4399C>G (p.Leu1467Val)
c.4765C>G (p.Leu1589Val)
c.4809+574C>G (n.4809+574C>G)
c.4216+14604C>G (n.4216+14604C>G)
c.4873C>G (p.Leu1625Val)
c.4846C>G (p.Leu1616Val)
c.3280C>G (p.Leu1094Val)
n.5119+574C>G
n.4526+14604C>G
c.4837C>G (p.Leu1613Val)
n.5135+574C>G
n.5026C>G
n.4542+14604C>G
2g.227007444G>TCA351140105COL4A4c.556C>A (p.Leu186Ile)
c.4954C>A (p.Leu1652Ile)
c.4399C>A (p.Leu1467Ile)
c.4765C>A (p.Leu1589Ile)
c.4809+574C>A (n.4809+574C>A)
c.4216+14604C>A (n.4216+14604C>A)
c.4873C>A (p.Leu1625Ile)
c.4846C>A (p.Leu1616Ile)
c.3280C>A (p.Leu1094Ile)
n.5119+574C>A
n.4526+14604C>A
c.4837C>A (p.Leu1613Ile)
n.5135+574C>A
n.5026C>A
n.4542+14604C>A
 dbSNP gnomAD v4
2g.227007445C>ACA351140106COL4A4c.555G>T (p.Trp185Cys)
c.4953G>T (p.Trp1651Cys)
c.4398G>T (p.Trp1466Cys)
c.4764G>T (p.Trp1588Cys)
c.4809+573G>T (n.4809+573G>T)
c.4216+14603G>T (n.4216+14603G>T)
c.4872G>T (p.Trp1624Cys)
c.4845G>T (p.Trp1615Cys)
c.3279G>T (p.Trp1093Cys)
n.5119+573G>T
n.4526+14603G>T
c.4836G>T (p.Trp1612Cys)
n.5135+573G>T
n.5025G>T
n.4542+14603G>T
2g.227007445C=CA1332723589COL4A4c.555G= (p.Trp185=)
c.4953G= (p.Trp1651=)
c.4398G= (p.Trp1466=)
c.4764G= (p.Trp1588=)
c.4809+573G= (n.4809+573G=)
c.4216+14603G= (n.4216+14603G=)
c.4872G= (p.Trp1624=)
c.4845G= (p.Trp1615=)
c.3279G= (p.Trp1093=)
n.5119+573G=
n.4526+14603G=
c.4836G= (p.Trp1612=)
n.5135+573G=
n.5025G=
n.4542+14603G=
2g.227007445C>GCA351140107COL4A4c.555G>C (p.Trp185Cys)
c.4953G>C (p.Trp1651Cys)
c.4398G>C (p.Trp1466Cys)
c.4764G>C (p.Trp1588Cys)
c.4809+573G>C (n.4809+573G>C)
c.4216+14603G>C (n.4216+14603G>C)
c.4872G>C (p.Trp1624Cys)
c.4845G>C (p.Trp1615Cys)
c.3279G>C (p.Trp1093Cys)
n.5119+573G>C
n.4526+14603G>C
c.4836G>C (p.Trp1612Cys)
n.5135+573G>C
n.5025G>C
n.4542+14603G>C
2g.227007445C>TCA351140108COL4A4c.555G>A (p.Trp185Ter)
c.4953G>A (p.Trp1651Ter)
c.4398G>A (p.Trp1466Ter)
c.4764G>A (p.Trp1588Ter)
c.4809+573G>A (n.4809+573G>A)
c.4216+14603G>A (n.4216+14603G>A)
c.4872G>A (p.Trp1624Ter)
c.4845G>A (p.Trp1615Ter)
c.3279G>A (p.Trp1093Ter)
n.5119+573G>A
n.4526+14603G>A
c.4836G>A (p.Trp1612Ter)
n.5135+573G>A
n.5025G>A
n.4542+14603G>A
 ClinVar dbSNP gnomAD v2
2g.227007446C>ACA351140109COL4A4c.554G>T (p.Trp185Leu)
c.4952G>T (p.Trp1651Leu)
c.4397G>T (p.Trp1466Leu)
c.4763G>T (p.Trp1588Leu)
c.4809+572G>T (n.4809+572G>T)
c.4216+14602G>T (n.4216+14602G>T)
c.4871G>T (p.Trp1624Leu)
c.4844G>T (p.Trp1615Leu)
c.3278G>T (p.Trp1093Leu)
n.5119+572G>T
n.4526+14602G>T
c.4835G>T (p.Trp1612Leu)
n.5135+572G>T
n.5024G>T
n.4542+14602G>T
2g.227007446C>GCA351140111COL4A4c.554G>C (p.Trp185Ser)
c.4952G>C (p.Trp1651Ser)
c.4397G>C (p.Trp1466Ser)
c.4763G>C (p.Trp1588Ser)
c.4809+572G>C (n.4809+572G>C)
c.4216+14602G>C (n.4216+14602G>C)
c.4871G>C (p.Trp1624Ser)
c.4844G>C (p.Trp1615Ser)
c.3278G>C (p.Trp1093Ser)
n.5119+572G>C
n.4526+14602G>C
c.4835G>C (p.Trp1612Ser)
n.5135+572G>C
n.5024G>C
n.4542+14602G>C
2g.227007446C>TCA351140110COL4A4c.554G>A (p.Trp185Ter)
c.4952G>A (p.Trp1651Ter)
c.4397G>A (p.Trp1466Ter)
c.4763G>A (p.Trp1588Ter)
c.4809+572G>A (n.4809+572G>A)
c.4216+14602G>A (n.4216+14602G>A)
c.4871G>A (p.Trp1624Ter)
c.4844G>A (p.Trp1615Ter)
c.3278G>A (p.Trp1093Ter)
n.5119+572G>A
n.4526+14602G>A
c.4835G>A (p.Trp1612Ter)
n.5135+572G>A
n.5024G>A
n.4542+14602G>A
2g.227007447A=CA1332723590COL4A4c.553T= (p.Trp185=)
c.4951T= (p.Trp1651=)
c.4396T= (p.Trp1466=)
c.4762T= (p.Trp1588=)
c.4809+571T= (n.4809+571T=)
c.4216+14601T= (n.4216+14601T=)
c.4870T= (p.Trp1624=)
c.4843T= (p.Trp1615=)
c.3277T= (p.Trp1093=)
n.5119+571T=
n.4526+14601T=
c.4834T= (p.Trp1612=)
n.5135+571T=
n.5023T=
n.4542+14601T=
2g.227007447A>CCA351140112COL4A4c.553T>G (p.Trp185Gly)
c.4951T>G (p.Trp1651Gly)
c.4396T>G (p.Trp1466Gly)
c.4762T>G (p.Trp1588Gly)
c.4809+571T>G (n.4809+571T>G)
c.4216+14601T>G (n.4216+14601T>G)
c.4870T>G (p.Trp1624Gly)
c.4843T>G (p.Trp1615Gly)
c.3277T>G (p.Trp1093Gly)
n.5119+571T>G
n.4526+14601T>G
c.4834T>G (p.Trp1612Gly)
n.5135+571T>G
n.5023T>G
n.4542+14601T>G
2g.227007447A>GCA351140113COL4A4c.553T>C (p.Trp185Arg)
c.4951T>C (p.Trp1651Arg)
c.4396T>C (p.Trp1466Arg)
c.4762T>C (p.Trp1588Arg)
c.4809+571T>C (n.4809+571T>C)
c.4216+14601T>C (n.4216+14601T>C)
c.4870T>C (p.Trp1624Arg)
c.4843T>C (p.Trp1615Arg)
c.3277T>C (p.Trp1093Arg)
n.5119+571T>C
n.4526+14601T>C
c.4834T>C (p.Trp1612Arg)
n.5135+571T>C
n.5023T>C
n.4542+14601T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227007447A>TCA351140114COL4A4c.553T>A (p.Trp185Arg)
c.4951T>A (p.Trp1651Arg)
c.4396T>A (p.Trp1466Arg)
c.4762T>A (p.Trp1588Arg)
c.4809+571T>A (n.4809+571T>A)
c.4216+14601T>A (n.4216+14601T>A)
c.4870T>A (p.Trp1624Arg)
c.4843T>A (p.Trp1615Arg)
c.3277T>A (p.Trp1093Arg)
n.5119+571T>A
n.4526+14601T>A
c.4834T>A (p.Trp1612Arg)
n.5135+571T>A
n.5023T>A
n.4542+14601T>A
2g.227007448G>ACA431671827COL4A4c.552C>T (p.Phe184=)
c.4950C>T (p.Phe1650=)
c.4395C>T (p.Phe1465=)
c.4761C>T (p.Phe1587=)
c.4809+570C>T (n.4809+570C>T)
c.4216+14600C>T (n.4216+14600C>T)
c.4869C>T (p.Phe1623=)
c.4842C>T (p.Phe1614=)
c.3276C>T (p.Phe1092=)
n.5119+570C>T
n.4526+14600C>T
c.4833C>T (p.Phe1611=)
n.5135+570C>T
n.5022C>T
n.4542+14600C>T
 dbSNP
2g.227007448G>CCA2144013COL4A4c.552C>G (p.Phe184Leu)
c.4950C>G (p.Phe1650Leu)
c.4395C>G (p.Phe1465Leu)
c.4761C>G (p.Phe1587Leu)
c.4809+570C>G (n.4809+570C>G)
c.4216+14600C>G (n.4216+14600C>G)
c.4869C>G (p.Phe1623Leu)
c.4842C>G (p.Phe1614Leu)
c.3276C>G (p.Phe1092Leu)
n.5119+570C>G
n.4526+14600C>G
c.4833C>G (p.Phe1611Leu)
n.5135+570C>G
n.5022C>G
n.4542+14600C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007448G=CA1332723591COL4A4c.552C= (p.Phe184=)
c.4950C= (p.Phe1650=)
c.4395C= (p.Phe1465=)
c.4761C= (p.Phe1587=)
c.4809+570C= (n.4809+570C=)
c.4216+14600C= (n.4216+14600C=)
c.4869C= (p.Phe1623=)
c.4842C= (p.Phe1614=)
c.3276C= (p.Phe1092=)
n.5119+570C=
n.4526+14600C=
c.4833C= (p.Phe1611=)
n.5135+570C=
n.5022C=
n.4542+14600C=
2g.227007448G>TCA351140115COL4A4c.552C>A (p.Phe184Leu)
c.4950C>A (p.Phe1650Leu)
c.4395C>A (p.Phe1465Leu)
c.4761C>A (p.Phe1587Leu)
c.4809+570C>A (n.4809+570C>A)
c.4216+14600C>A (n.4216+14600C>A)
c.4869C>A (p.Phe1623Leu)
c.4842C>A (p.Phe1614Leu)
c.3276C>A (p.Phe1092Leu)
n.5119+570C>A
n.4526+14600C>A
c.4833C>A (p.Phe1611Leu)
n.5135+570C>A
n.5022C>A
n.4542+14600C>A
2g.227007449A=CA1332723592COL4A4c.551T= (p.Phe184=)
c.4949T= (p.Phe1650=)
c.4394T= (p.Phe1465=)
c.4760T= (p.Phe1587=)
c.4809+569T= (n.4809+569T=)
c.4216+14599T= (n.4216+14599T=)
c.4868T= (p.Phe1623=)
c.4841T= (p.Phe1614=)
c.3275T= (p.Phe1092=)
n.5119+569T=
n.4526+14599T=
c.4832T= (p.Phe1611=)
n.5135+569T=
n.5021T=
n.4542+14599T=
2g.227007449A>CCA351140117COL4A4c.551T>G (p.Phe184Cys)
c.4949T>G (p.Phe1650Cys)
c.4394T>G (p.Phe1465Cys)
c.4760T>G (p.Phe1587Cys)
c.4809+569T>G (n.4809+569T>G)
c.4216+14599T>G (n.4216+14599T>G)
c.4868T>G (p.Phe1623Cys)
c.4841T>G (p.Phe1614Cys)
c.3275T>G (p.Phe1092Cys)
n.5119+569T>G
n.4526+14599T>G
c.4832T>G (p.Phe1611Cys)
n.5135+569T>G
n.5021T>G
n.4542+14599T>G
2g.227007449A>GCA351140118COL4A4c.551T>C (p.Phe184Ser)
c.4949T>C (p.Phe1650Ser)
c.4394T>C (p.Phe1465Ser)
c.4760T>C (p.Phe1587Ser)
c.4809+569T>C (n.4809+569T>C)
c.4216+14599T>C (n.4216+14599T>C)
c.4868T>C (p.Phe1623Ser)
c.4841T>C (p.Phe1614Ser)
c.3275T>C (p.Phe1092Ser)
n.5119+569T>C
n.4526+14599T>C
c.4832T>C (p.Phe1611Ser)
n.5135+569T>C
n.5021T>C
n.4542+14599T>C
 dbSNP
2g.227007449A>TCA351140116COL4A4c.551T>A (p.Phe184Tyr)
c.4949T>A (p.Phe1650Tyr)
c.4394T>A (p.Phe1465Tyr)
c.4760T>A (p.Phe1587Tyr)
c.4809+569T>A (n.4809+569T>A)
c.4216+14599T>A (n.4216+14599T>A)
c.4868T>A (p.Phe1623Tyr)
c.4841T>A (p.Phe1614Tyr)
c.3275T>A (p.Phe1092Tyr)
n.5119+569T>A
n.4526+14599T>A
c.4832T>A (p.Phe1611Tyr)
n.5135+569T>A
n.5021T>A
n.4542+14599T>A
2g.227007450A=CA1332723593COL4A4c.550T= (p.Phe184=)
c.4948T= (p.Phe1650=)
c.4393T= (p.Phe1465=)
c.4759T= (p.Phe1587=)
c.4809+568T= (n.4809+568T=)
c.4216+14598T= (n.4216+14598T=)
c.4867T= (p.Phe1623=)
c.4840T= (p.Phe1614=)
c.3274T= (p.Phe1092=)
n.5119+568T=
n.4526+14598T=
c.4831T= (p.Phe1611=)
n.5135+568T=
n.5020T=
n.4542+14598T=
2g.227007450A>CCA351140120COL4A4c.550T>G (p.Phe184Val)
c.4948T>G (p.Phe1650Val)
c.4393T>G (p.Phe1465Val)
c.4759T>G (p.Phe1587Val)
c.4809+568T>G (n.4809+568T>G)
c.4216+14598T>G (n.4216+14598T>G)
c.4867T>G (p.Phe1623Val)
c.4840T>G (p.Phe1614Val)
c.3274T>G (p.Phe1092Val)
n.5119+568T>G
n.4526+14598T>G
c.4831T>G (p.Phe1611Val)
n.5135+568T>G
n.5020T>G
n.4542+14598T>G
2g.227007450A>GCA351140119COL4A4c.550T>C (p.Phe184Leu)
c.4948T>C (p.Phe1650Leu)
c.4393T>C (p.Phe1465Leu)
c.4759T>C (p.Phe1587Leu)
c.4809+568T>C (n.4809+568T>C)
c.4216+14598T>C (n.4216+14598T>C)
c.4867T>C (p.Phe1623Leu)
c.4840T>C (p.Phe1614Leu)
c.3274T>C (p.Phe1092Leu)
n.5119+568T>C
n.4526+14598T>C
c.4831T>C (p.Phe1611Leu)
n.5135+568T>C
n.5020T>C
n.4542+14598T>C
 ClinVar dbSNP
2g.227007450A>TCA351140121COL4A4c.550T>A (p.Phe184Ile)
c.4948T>A (p.Phe1650Ile)
c.4393T>A (p.Phe1465Ile)
c.4759T>A (p.Phe1587Ile)
c.4809+568T>A (n.4809+568T>A)
c.4216+14598T>A (n.4216+14598T>A)
c.4867T>A (p.Phe1623Ile)
c.4840T>A (p.Phe1614Ile)
c.3274T>A (p.Phe1092Ile)
n.5119+568T>A
n.4526+14598T>A
c.4831T>A (p.Phe1611Ile)
n.5135+568T>A
n.5020T>A
n.4542+14598T>A
2g.227007451G>ACA67238237COL4A4c.549C>T (p.Ser183=)
c.4947C>T (p.Ser1649=)
c.4392C>T (p.Ser1464=)
c.4758C>T (p.Ser1586=)
c.4809+567C>T (n.4809+567C>T)
c.4216+14597C>T (n.4216+14597C>T)
c.4866C>T (p.Ser1622=)
c.4839C>T (p.Ser1613=)
c.3273C>T (p.Ser1091=)
n.5119+567C>T
n.4526+14597C>T
c.4830C>T (p.Ser1610=)
n.5135+567C>T
n.5019C>T
n.4542+14597C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227007451G>CCA351140122COL4A4c.549C>G (p.Ser183Arg)
c.4947C>G (p.Ser1649Arg)
c.4392C>G (p.Ser1464Arg)
c.4758C>G (p.Ser1586Arg)
c.4809+567C>G (n.4809+567C>G)
c.4216+14597C>G (n.4216+14597C>G)
c.4866C>G (p.Ser1622Arg)
c.4839C>G (p.Ser1613Arg)
c.3273C>G (p.Ser1091Arg)
n.5119+567C>G
n.4526+14597C>G
c.4830C>G (p.Ser1610Arg)
n.5135+567C>G
n.5019C>G
n.4542+14597C>G
2g.227007451G=CA1332723594COL4A4c.549C= (p.Ser183=)
c.4947C= (p.Ser1649=)
c.4392C= (p.Ser1464=)
c.4758C= (p.Ser1586=)
c.4809+567C= (n.4809+567C=)
c.4216+14597C= (n.4216+14597C=)
c.4866C= (p.Ser1622=)
c.4839C= (p.Ser1613=)
c.3273C= (p.Ser1091=)
n.5119+567C=
n.4526+14597C=
c.4830C= (p.Ser1610=)
n.5135+567C=
n.5019C=
n.4542+14597C=
2g.227007451G>TCA351140123COL4A4c.549C>A (p.Ser183Arg)
c.4947C>A (p.Ser1649Arg)
c.4392C>A (p.Ser1464Arg)
c.4758C>A (p.Ser1586Arg)
c.4809+567C>A (n.4809+567C>A)
c.4216+14597C>A (n.4216+14597C>A)
c.4866C>A (p.Ser1622Arg)
c.4839C>A (p.Ser1613Arg)
c.3273C>A (p.Ser1091Arg)
n.5119+567C>A
n.4526+14597C>A
c.4830C>A (p.Ser1610Arg)
n.5135+567C>A
n.5019C>A
n.4542+14597C>A
2g.227007452C>ACA351140124COL4A4c.548G>T (p.Ser183Ile)
c.4946G>T (p.Ser1649Ile)
c.4391G>T (p.Ser1464Ile)
c.4757G>T (p.Ser1586Ile)
c.4809+566G>T (n.4809+566G>T)
c.4216+14596G>T (n.4216+14596G>T)
c.4865G>T (p.Ser1622Ile)
c.4838G>T (p.Ser1613Ile)
c.3272G>T (p.Ser1091Ile)
n.5119+566G>T
n.4526+14596G>T
c.4829G>T (p.Ser1610Ile)
n.5135+566G>T
n.5018G>T
n.4542+14596G>T
 dbSNP gnomAD v2 gnomAD v4
2g.227007452C=CA1332723595COL4A4c.548G= (p.Ser183=)
c.4946G= (p.Ser1649=)
c.4391G= (p.Ser1464=)
c.4757G= (p.Ser1586=)
c.4809+566G= (n.4809+566G=)
c.4216+14596G= (n.4216+14596G=)
c.4865G= (p.Ser1622=)
c.4838G= (p.Ser1613=)
c.3272G= (p.Ser1091=)
n.5119+566G=
n.4526+14596G=
c.4829G= (p.Ser1610=)
n.5135+566G=
n.5018G=
n.4542+14596G=
2g.227007452C>GCA351140125COL4A4c.548G>C (p.Ser183Thr)
c.4946G>C (p.Ser1649Thr)
c.4391G>C (p.Ser1464Thr)
c.4757G>C (p.Ser1586Thr)
c.4809+566G>C (n.4809+566G>C)
c.4216+14596G>C (n.4216+14596G>C)
c.4865G>C (p.Ser1622Thr)
c.4838G>C (p.Ser1613Thr)
c.3272G>C (p.Ser1091Thr)
n.5119+566G>C
n.4526+14596G>C
c.4829G>C (p.Ser1610Thr)
n.5135+566G>C
n.5018G>C
n.4542+14596G>C
2g.227007452C>TCA351140126COL4A4c.548G>A (p.Ser183Asn)
c.4946G>A (p.Ser1649Asn)
c.4391G>A (p.Ser1464Asn)
c.4757G>A (p.Ser1586Asn)
c.4809+566G>A (n.4809+566G>A)
c.4216+14596G>A (n.4216+14596G>A)
c.4865G>A (p.Ser1622Asn)
c.4838G>A (p.Ser1613Asn)
c.3272G>A (p.Ser1091Asn)
n.5119+566G>A
n.4526+14596G>A
c.4829G>A (p.Ser1610Asn)
n.5135+566G>A
n.5018G>A
n.4542+14596G>A
 gnomAD v4
2g.227007453T>ACA351140127COL4A4c.547A>T (p.Ser183Cys)
c.4945A>T (p.Ser1649Cys)
c.4390A>T (p.Ser1464Cys)
c.4756A>T (p.Ser1586Cys)
c.4809+565A>T (n.4809+565A>T)
c.4216+14595A>T (n.4216+14595A>T)
c.4864A>T (p.Ser1622Cys)
c.4837A>T (p.Ser1613Cys)
c.3271A>T (p.Ser1091Cys)
n.5119+565A>T
n.4526+14595A>T
c.4828A>T (p.Ser1610Cys)
n.5135+565A>T
n.5017A>T
n.4542+14595A>T
2g.227007453T>CCA2144014COL4A4c.547A>G (p.Ser183Gly)
c.4945A>G (p.Ser1649Gly)
c.4390A>G (p.Ser1464Gly)
c.4756A>G (p.Ser1586Gly)
c.4809+565A>G (n.4809+565A>G)
c.4216+14595A>G (n.4216+14595A>G)
c.4864A>G (p.Ser1622Gly)
c.4837A>G (p.Ser1613Gly)
c.3271A>G (p.Ser1091Gly)
n.5119+565A>G
n.4526+14595A>G
c.4828A>G (p.Ser1610Gly)
n.5135+565A>G
n.5017A>G
n.4542+14595A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007453T>GCA351140128COL4A4c.547A>C (p.Ser183Arg)
c.4945A>C (p.Ser1649Arg)
c.4390A>C (p.Ser1464Arg)
c.4756A>C (p.Ser1586Arg)
c.4809+565A>C (n.4809+565A>C)
c.4216+14595A>C (n.4216+14595A>C)
c.4864A>C (p.Ser1622Arg)
c.4837A>C (p.Ser1613Arg)
c.3271A>C (p.Ser1091Arg)
n.5119+565A>C
n.4526+14595A>C
c.4828A>C (p.Ser1610Arg)
n.5135+565A>C
n.5017A>C
n.4542+14595A>C
2g.227007453T=CA1332723596COL4A4c.547A= (p.Ser183=)
c.4945A= (p.Ser1649=)
c.4390A= (p.Ser1464=)
c.4756A= (p.Ser1586=)
c.4809+565A= (n.4809+565A=)
c.4216+14595A= (n.4216+14595A=)
c.4864A= (p.Ser1622=)
c.4837A= (p.Ser1613=)
c.3271A= (p.Ser1091=)
n.5119+565A=
n.4526+14595A=
c.4828A= (p.Ser1610=)
n.5135+565A=
n.5017A=
n.4542+14595A=
2g.227007454A>CCA351140129COL4A4c.546T>G (p.Tyr182Ter)
c.4944T>G (p.Tyr1648Ter)
c.4389T>G (p.Tyr1463Ter)
c.4755T>G (p.Tyr1585Ter)
c.4809+564T>G (n.4809+564T>G)
c.4216+14594T>G (n.4216+14594T>G)
c.4863T>G (p.Tyr1621Ter)
c.4836T>G (p.Tyr1612Ter)
c.3270T>G (p.Tyr1090Ter)
n.5119+564T>G
n.4526+14594T>G
c.4827T>G (p.Tyr1609Ter)
n.5135+564T>G
n.5016T>G
n.4542+14594T>G
2g.227007454A>GCA431671835COL4A4c.546T>C (p.Tyr182=)
c.4944T>C (p.Tyr1648=)
c.4389T>C (p.Tyr1463=)
c.4755T>C (p.Tyr1585=)
c.4809+564T>C (n.4809+564T>C)
c.4216+14594T>C (n.4216+14594T>C)
c.4863T>C (p.Tyr1621=)
c.4836T>C (p.Tyr1612=)
c.3270T>C (p.Tyr1090=)
n.5119+564T>C
n.4526+14594T>C
c.4827T>C (p.Tyr1609=)
n.5135+564T>C
n.5016T>C
n.4542+14594T>C
 ClinVar
2g.227007454A>TCA351140130COL4A4c.546T>A (p.Tyr182Ter)
c.4944T>A (p.Tyr1648Ter)
c.4389T>A (p.Tyr1463Ter)
c.4755T>A (p.Tyr1585Ter)
c.4809+564T>A (n.4809+564T>A)
c.4216+14594T>A (n.4216+14594T>A)
c.4863T>A (p.Tyr1621Ter)
c.4836T>A (p.Tyr1612Ter)
c.3270T>A (p.Tyr1090Ter)
n.5119+564T>A
n.4526+14594T>A
c.4827T>A (p.Tyr1609Ter)
n.5135+564T>A
n.5016T>A
n.4542+14594T>A
2g.227007455T>ACA351140131COL4A4c.545A>T (p.Tyr182Phe)
c.4943A>T (p.Tyr1648Phe)
c.4388A>T (p.Tyr1463Phe)
c.4754A>T (p.Tyr1585Phe)
c.4809+563A>T (n.4809+563A>T)
c.4216+14593A>T (n.4216+14593A>T)
c.4862A>T (p.Tyr1621Phe)
c.4835A>T (p.Tyr1612Phe)
c.3269A>T (p.Tyr1090Phe)
n.5119+563A>T
n.4526+14593A>T
c.4826A>T (p.Tyr1609Phe)
n.5135+563A>T
n.5015A>T
n.4542+14593A>T
2g.227007455T>CCA2144015COL4A4c.545A>G (p.Tyr182Cys)
c.4943A>G (p.Tyr1648Cys)
c.4388A>G (p.Tyr1463Cys)
c.4754A>G (p.Tyr1585Cys)
c.4809+563A>G (n.4809+563A>G)
c.4216+14593A>G (n.4216+14593A>G)
c.4862A>G (p.Tyr1621Cys)
c.4835A>G (p.Tyr1612Cys)
c.3269A>G (p.Tyr1090Cys)
n.5119+563A>G
n.4526+14593A>G
c.4826A>G (p.Tyr1609Cys)
n.5135+563A>G
n.5015A>G
n.4542+14593A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227007455T>GCA351140132COL4A4c.545A>C (p.Tyr182Ser)
c.4943A>C (p.Tyr1648Ser)
c.4388A>C (p.Tyr1463Ser)
c.4754A>C (p.Tyr1585Ser)
c.4809+563A>C (n.4809+563A>C)
c.4216+14593A>C (n.4216+14593A>C)
c.4862A>C (p.Tyr1621Ser)
c.4835A>C (p.Tyr1612Ser)
c.3269A>C (p.Tyr1090Ser)
n.5119+563A>C
n.4526+14593A>C
c.4826A>C (p.Tyr1609Ser)
n.5135+563A>C
n.5015A>C
n.4542+14593A>C
2g.227007455T=CA1332723597COL4A4c.545A= (p.Tyr182=)
c.4943A= (p.Tyr1648=)
c.4388A= (p.Tyr1463=)
c.4754A= (p.Tyr1585=)
c.4809+563A= (n.4809+563A=)
c.4216+14593A= (n.4216+14593A=)
c.4862A= (p.Tyr1621=)
c.4835A= (p.Tyr1612=)
c.3269A= (p.Tyr1090=)
n.5119+563A=
n.4526+14593A=
c.4826A= (p.Tyr1609=)
n.5135+563A=
n.5015A=
n.4542+14593A=
2g.227007456A>CCA351140133COL4A4c.544T>G (p.Tyr182Asp)
c.4942T>G (p.Tyr1648Asp)
c.4387T>G (p.Tyr1463Asp)
c.4753T>G (p.Tyr1585Asp)
c.4809+562T>G (n.4809+562T>G)
c.4216+14592T>G (n.4216+14592T>G)
c.4861T>G (p.Tyr1621Asp)
c.4834T>G (p.Tyr1612Asp)
c.3268T>G (p.Tyr1090Asp)
n.5119+562T>G
n.4526+14592T>G
c.4825T>G (p.Tyr1609Asp)
n.5135+562T>G
n.5014T>G
n.4542+14592T>G
2g.227007456A>GCA351140135COL4A4c.544T>C (p.Tyr182His)
c.4942T>C (p.Tyr1648His)
c.4387T>C (p.Tyr1463His)
c.4753T>C (p.Tyr1585His)
c.4809+562T>C (n.4809+562T>C)
c.4216+14592T>C (n.4216+14592T>C)
c.4861T>C (p.Tyr1621His)
c.4834T>C (p.Tyr1612His)
c.3268T>C (p.Tyr1090His)
n.5119+562T>C
n.4526+14592T>C
c.4825T>C (p.Tyr1609His)
n.5135+562T>C
n.5014T>C
n.4542+14592T>C
2g.227007456A>TCA351140134COL4A4c.544T>A (p.Tyr182Asn)
c.4942T>A (p.Tyr1648Asn)
c.4387T>A (p.Tyr1463Asn)
c.4753T>A (p.Tyr1585Asn)
c.4809+562T>A (n.4809+562T>A)
c.4216+14592T>A (n.4216+14592T>A)
c.4861T>A (p.Tyr1621Asn)
c.4834T>A (p.Tyr1612Asn)
c.3268T>A (p.Tyr1090Asn)
n.5119+562T>A
n.4526+14592T>A
c.4825T>A (p.Tyr1609Asn)
n.5135+562T>A
n.5014T>A
n.4542+14592T>A
2g.227007457C>ACA351140136COL4A4c.543G>T (p.Lys181Asn)
c.4941G>T (p.Lys1647Asn)
c.4386G>T (p.Lys1462Asn)
c.4752G>T (p.Lys1584Asn)
c.4809+561G>T (n.4809+561G>T)
c.4216+14591G>T (n.4216+14591G>T)
c.4860G>T (p.Lys1620Asn)
c.4833G>T (p.Lys1611Asn)
c.3267G>T (p.Lys1089Asn)
n.5119+561G>T
n.4526+14591G>T
c.4824G>T (p.Lys1608Asn)
n.5135+561G>T
n.5013G>T
n.4542+14591G>T
2g.227007457C=CA1332723598COL4A4c.543G= (p.Lys181=)
c.4941G= (p.Lys1647=)
c.4386G= (p.Lys1462=)
c.4752G= (p.Lys1584=)
c.4809+561G= (n.4809+561G=)
c.4216+14591G= (n.4216+14591G=)
c.4860G= (p.Lys1620=)
c.4833G= (p.Lys1611=)
c.3267G= (p.Lys1089=)
n.5119+561G=
n.4526+14591G=
c.4824G= (p.Lys1608=)
n.5135+561G=
n.5013G=
n.4542+14591G=
2g.227007457C>GCA351140137COL4A4c.543G>C (p.Lys181Asn)
c.4941G>C (p.Lys1647Asn)
c.4386G>C (p.Lys1462Asn)
c.4752G>C (p.Lys1584Asn)
c.4809+561G>C (n.4809+561G>C)
c.4216+14591G>C (n.4216+14591G>C)
c.4860G>C (p.Lys1620Asn)
c.4833G>C (p.Lys1611Asn)
c.3267G>C (p.Lys1089Asn)
n.5119+561G>C
n.4526+14591G>C
c.4824G>C (p.Lys1608Asn)
n.5135+561G>C
n.5013G>C
n.4542+14591G>C
2g.227007457C>TCA431671840COL4A4c.543G>A (p.Lys181=)
c.4941G>A (p.Lys1647=)
c.4386G>A (p.Lys1462=)
c.4752G>A (p.Lys1584=)
c.4809+561G>A (n.4809+561G>A)
c.4216+14591G>A (n.4216+14591G>A)
c.4860G>A (p.Lys1620=)
c.4833G>A (p.Lys1611=)
c.3267G>A (p.Lys1089=)
n.5119+561G>A
n.4526+14591G>A
c.4824G>A (p.Lys1608=)
n.5135+561G>A
n.5013G>A
n.4542+14591G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227007457_227007466delCA1043044205COL4A4c.534_543del (p.Ala179IlefsTer8)
c.4932_4941del (p.Ala1645IlefsTer8)
c.4377_4386del (p.Ala1460IlefsTer8)
c.4743_4752del (p.Ala1582IlefsTer8)
c.4809+552_4809+561del (n.4809+552_4809+561del)
c.4216+14582_4216+14591del (n.4216+14582_4216+14591del)
c.4851_4860del (p.Ala1618IlefsTer8)
c.4824_4833del (p.Ala1609IlefsTer8)
c.3258_3267del (p.Ala1087IlefsTer8)
n.5119+552_5119+561del
n.4526+14582_4526+14591del
c.4815_4824del (p.Ala1606IlefsTer8)
n.5135+552_5135+561del
n.5004_5013del
n.4542+14582_4542+14591del
 gnomAD v3 gnomAD v4
2g.227007458T>ACA351140138COL4A4c.542A>T (p.Lys181Met)
c.4940A>T (p.Lys1647Met)
c.4385A>T (p.Lys1462Met)
c.4751A>T (p.Lys1584Met)
c.4809+560A>T (n.4809+560A>T)
c.4216+14590A>T (n.4216+14590A>T)
c.4859A>T (p.Lys1620Met)
c.4832A>T (p.Lys1611Met)
c.3266A>T (p.Lys1089Met)
n.5119+560A>T
n.4526+14590A>T
c.4823A>T (p.Lys1608Met)
n.5135+560A>T
n.5012A>T
n.4542+14590A>T
2g.227007458T>CCA351140139COL4A4c.542A>G (p.Lys181Arg)
c.4940A>G (p.Lys1647Arg)
c.4385A>G (p.Lys1462Arg)
c.4751A>G (p.Lys1584Arg)
c.4809+560A>G (n.4809+560A>G)
c.4216+14590A>G (n.4216+14590A>G)
c.4859A>G (p.Lys1620Arg)
c.4832A>G (p.Lys1611Arg)
c.3266A>G (p.Lys1089Arg)
n.5119+560A>G
n.4526+14590A>G
c.4823A>G (p.Lys1608Arg)
n.5135+560A>G
n.5012A>G
n.4542+14590A>G
2g.227007458T>GCA351140140COL4A4c.542A>C (p.Lys181Thr)
c.4940A>C (p.Lys1647Thr)
c.4385A>C (p.Lys1462Thr)
c.4751A>C (p.Lys1584Thr)
c.4809+560A>C (n.4809+560A>C)
c.4216+14590A>C (n.4216+14590A>C)
c.4859A>C (p.Lys1620Thr)
c.4832A>C (p.Lys1611Thr)
c.3266A>C (p.Lys1089Thr)
n.5119+560A>C
n.4526+14590A>C
c.4823A>C (p.Lys1608Thr)
n.5135+560A>C
n.5012A>C
n.4542+14590A>C
 dbSNP gnomAD v2
2g.227007458T=CA1332723599COL4A4c.542A= (p.Lys181=)
c.4940A= (p.Lys1647=)
c.4385A= (p.Lys1462=)
c.4751A= (p.Lys1584=)
c.4809+560A= (n.4809+560A=)
c.4216+14590A= (n.4216+14590A=)
c.4859A= (p.Lys1620=)
c.4832A= (p.Lys1611=)
c.3266A= (p.Lys1089=)
n.5119+560A=
n.4526+14590A=
c.4823A= (p.Lys1608=)
n.5135+560A=
n.5012A=
n.4542+14590A=
2g.227007459T>ACA351140141COL4A4c.541A>T (p.Lys181Ter)
c.4939A>T (p.Lys1647Ter)
c.4384A>T (p.Lys1462Ter)
c.4750A>T (p.Lys1584Ter)
c.4809+559A>T (n.4809+559A>T)
c.4216+14589A>T (n.4216+14589A>T)
c.4858A>T (p.Lys1620Ter)
c.4831A>T (p.Lys1611Ter)
c.3265A>T (p.Lys1089Ter)
n.5119+559A>T
n.4526+14589A>T
c.4822A>T (p.Lys1608Ter)
n.5135+559A>T
n.5011A>T
n.4542+14589A>T
2g.227007459T>CCA351140142COL4A4c.541A>G (p.Lys181Glu)
c.4939A>G (p.Lys1647Glu)
c.4384A>G (p.Lys1462Glu)
c.4750A>G (p.Lys1584Glu)
c.4809+559A>G (n.4809+559A>G)
c.4216+14589A>G (n.4216+14589A>G)
c.4858A>G (p.Lys1620Glu)
c.4831A>G (p.Lys1611Glu)
c.3265A>G (p.Lys1089Glu)
n.5119+559A>G
n.4526+14589A>G
c.4822A>G (p.Lys1608Glu)
n.5135+559A>G
n.5011A>G
n.4542+14589A>G
 dbSNP gnomAD v2
2g.227007459T>GCA351140143COL4A4c.541A>C (p.Lys181Gln)
c.4939A>C (p.Lys1647Gln)
c.4384A>C (p.Lys1462Gln)
c.4750A>C (p.Lys1584Gln)
c.4809+559A>C (n.4809+559A>C)
c.4216+14589A>C (n.4216+14589A>C)
c.4858A>C (p.Lys1620Gln)
c.4831A>C (p.Lys1611Gln)
c.3265A>C (p.Lys1089Gln)
n.5119+559A>C
n.4526+14589A>C
c.4822A>C (p.Lys1608Gln)
n.5135+559A>C
n.5011A>C
n.4542+14589A>C
 dbSNP
2g.227007459T=CA1332723600COL4A4c.541A= (p.Lys181=)
c.4939A= (p.Lys1647=)
c.4384A= (p.Lys1462=)
c.4750A= (p.Lys1584=)
c.4809+559A= (n.4809+559A=)
c.4216+14589A= (n.4216+14589A=)
c.4858A= (p.Lys1620=)
c.4831A= (p.Lys1611=)
c.3265A= (p.Lys1089=)
n.5119+559A=
n.4526+14589A=
c.4822A= (p.Lys1608=)
n.5135+559A=
n.5011A=
n.4542+14589A=
2g.227007460A=CA1332723601COL4A4c.540T= (p.Asn180=)
c.4938T= (p.Asn1646=)
c.4383T= (p.Asn1461=)
c.4749T= (p.Asn1583=)
c.4809+558T= (n.4809+558T=)
c.4216+14588T= (n.4216+14588T=)
c.4857T= (p.Asn1619=)
c.4830T= (p.Asn1610=)
c.3264T= (p.Asn1088=)
n.5119+558T=
n.4526+14588T=
c.4821T= (p.Asn1607=)
n.5135+558T=
n.5010T=
n.4542+14588T=
2g.227007460A>CCA351140144COL4A4c.540T>G (p.Asn180Lys)
c.4938T>G (p.Asn1646Lys)
c.4383T>G (p.Asn1461Lys)
c.4749T>G (p.Asn1583Lys)
c.4809+558T>G (n.4809+558T>G)
c.4216+14588T>G (n.4216+14588T>G)
c.4857T>G (p.Asn1619Lys)
c.4830T>G (p.Asn1610Lys)
c.3264T>G (p.Asn1088Lys)
n.5119+558T>G
n.4526+14588T>G
c.4821T>G (p.Asn1607Lys)
n.5135+558T>G
n.5010T>G
n.4542+14588T>G
2g.227007460A>GCA431671844COL4A4c.540T>C (p.Asn180=)
c.4938T>C (p.Asn1646=)
c.4383T>C (p.Asn1461=)
c.4749T>C (p.Asn1583=)
c.4809+558T>C (n.4809+558T>C)
c.4216+14588T>C (n.4216+14588T>C)
c.4857T>C (p.Asn1619=)
c.4830T>C (p.Asn1610=)
c.3264T>C (p.Asn1088=)
n.5119+558T>C
n.4526+14588T>C
c.4821T>C (p.Asn1607=)
n.5135+558T>C
n.5010T>C
n.4542+14588T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227007460A>TCA351140145COL4A4c.540T>A (p.Asn180Lys)
c.4938T>A (p.Asn1646Lys)
c.4383T>A (p.Asn1461Lys)
c.4749T>A (p.Asn1583Lys)
c.4809+558T>A (n.4809+558T>A)
c.4216+14588T>A (n.4216+14588T>A)
c.4857T>A (p.Asn1619Lys)
c.4830T>A (p.Asn1610Lys)
c.3264T>A (p.Asn1088Lys)
n.5119+558T>A
n.4526+14588T>A
c.4821T>A (p.Asn1607Lys)
n.5135+558T>A
n.5010T>A
n.4542+14588T>A
2g.227007461T>ACA351140147COL4A4c.539A>T (p.Asn180Ile)
c.4937A>T (p.Asn1646Ile)
c.4382A>T (p.Asn1461Ile)
c.4748A>T (p.Asn1583Ile)
c.4809+557A>T (n.4809+557A>T)
c.4216+14587A>T (n.4216+14587A>T)
c.4856A>T (p.Asn1619Ile)
c.4829A>T (p.Asn1610Ile)
c.3263A>T (p.Asn1088Ile)
n.5119+557A>T
n.4526+14587A>T
c.4820A>T (p.Asn1607Ile)
n.5135+557A>T
n.5009A>T
n.4542+14587A>T
2g.227007461T>CCA2144016COL4A4c.539A>G (p.Asn180Ser)
c.4937A>G (p.Asn1646Ser)
c.4382A>G (p.Asn1461Ser)
c.4748A>G (p.Asn1583Ser)
c.4809+557A>G (n.4809+557A>G)
c.4216+14587A>G (n.4216+14587A>G)
c.4856A>G (p.Asn1619Ser)
c.4829A>G (p.Asn1610Ser)
c.3263A>G (p.Asn1088Ser)
n.5119+557A>G
n.4526+14587A>G
c.4820A>G (p.Asn1607Ser)
n.5135+557A>G
n.5009A>G
n.4542+14587A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007461T>GCA351140146COL4A4c.539A>C (p.Asn180Thr)
c.4937A>C (p.Asn1646Thr)
c.4382A>C (p.Asn1461Thr)
c.4748A>C (p.Asn1583Thr)
c.4809+557A>C (n.4809+557A>C)
c.4216+14587A>C (n.4216+14587A>C)
c.4856A>C (p.Asn1619Thr)
c.4829A>C (p.Asn1610Thr)
c.3263A>C (p.Asn1088Thr)
n.5119+557A>C
n.4526+14587A>C
c.4820A>C (p.Asn1607Thr)
n.5135+557A>C
n.5009A>C
n.4542+14587A>C
2g.227007461T=CA1332723602COL4A4c.539A= (p.Asn180=)
c.4937A= (p.Asn1646=)
c.4382A= (p.Asn1461=)
c.4748A= (p.Asn1583=)
c.4809+557A= (n.4809+557A=)
c.4216+14587A= (n.4216+14587A=)
c.4856A= (p.Asn1619=)
c.4829A= (p.Asn1610=)
c.3263A= (p.Asn1088=)
n.5119+557A=
n.4526+14587A=
c.4820A= (p.Asn1607=)
n.5135+557A=
n.5009A=
n.4542+14587A=
2g.227007462T>ACA351140148COL4A4c.538A>T (p.Asn180Tyr)
c.4936A>T (p.Asn1646Tyr)
c.4381A>T (p.Asn1461Tyr)
c.4747A>T (p.Asn1583Tyr)
c.4809+556A>T (n.4809+556A>T)
c.4216+14586A>T (n.4216+14586A>T)
c.4855A>T (p.Asn1619Tyr)
c.4828A>T (p.Asn1610Tyr)
c.3262A>T (p.Asn1088Tyr)
n.5119+556A>T
n.4526+14586A>T
c.4819A>T (p.Asn1607Tyr)
n.5135+556A>T
n.5008A>T
n.4542+14586A>T
2g.227007462T>CCA351140149COL4A4c.538A>G (p.Asn180Asp)
c.4936A>G (p.Asn1646Asp)
c.4381A>G (p.Asn1461Asp)
c.4747A>G (p.Asn1583Asp)
c.4809+556A>G (n.4809+556A>G)
c.4216+14586A>G (n.4216+14586A>G)
c.4855A>G (p.Asn1619Asp)
c.4828A>G (p.Asn1610Asp)
c.3262A>G (p.Asn1088Asp)
n.5119+556A>G
n.4526+14586A>G
c.4819A>G (p.Asn1607Asp)
n.5135+556A>G
n.5008A>G
n.4542+14586A>G
 dbSNP gnomAD v3 gnomAD v4
2g.227007462T>GCA351140150COL4A4c.538A>C (p.Asn180His)
c.4936A>C (p.Asn1646His)
c.4381A>C (p.Asn1461His)
c.4747A>C (p.Asn1583His)
c.4809+556A>C (n.4809+556A>C)
c.4216+14586A>C (n.4216+14586A>C)
c.4855A>C (p.Asn1619His)
c.4828A>C (p.Asn1610His)
c.3262A>C (p.Asn1088His)
n.5119+556A>C
n.4526+14586A>C
c.4819A>C (p.Asn1607His)
n.5135+556A>C
n.5008A>C
n.4542+14586A>C
2g.227007462T=CA1332723603COL4A4c.538A= (p.Asn180=)
c.4936A= (p.Asn1646=)
c.4381A= (p.Asn1461=)
c.4747A= (p.Asn1583=)
c.4809+556A= (n.4809+556A=)
c.4216+14586A= (n.4216+14586A=)
c.4855A= (p.Asn1619=)
c.4828A= (p.Asn1610=)
c.3262A= (p.Asn1088=)
n.5119+556A=
n.4526+14586A=
c.4819A= (p.Asn1607=)
n.5135+556A=
n.5008A=
n.4542+14586A=
2g.227007463T>ACA431671845COL4A4c.537A>T (p.Ala179=)
c.4935A>T (p.Ala1645=)
c.4380A>T (p.Ala1460=)
c.4746A>T (p.Ala1582=)
c.4809+555A>T (n.4809+555A>T)
c.4216+14585A>T (n.4216+14585A>T)
c.4854A>T (p.Ala1618=)
c.4827A>T (p.Ala1609=)
c.3261A>T (p.Ala1087=)
n.5119+555A>T
n.4526+14585A>T
c.4818A>T (p.Ala1606=)
n.5135+555A>T
n.5007A>T
n.4542+14585A>T
2g.227007463T>CCA431671847COL4A4c.537A>G (p.Ala179=)
c.4935A>G (p.Ala1645=)
c.4380A>G (p.Ala1460=)
c.4746A>G (p.Ala1582=)
c.4809+555A>G (n.4809+555A>G)
c.4216+14585A>G (n.4216+14585A>G)
c.4854A>G (p.Ala1618=)
c.4827A>G (p.Ala1609=)
c.3261A>G (p.Ala1087=)
n.5119+555A>G
n.4526+14585A>G
c.4818A>G (p.Ala1606=)
n.5135+555A>G
n.5007A>G
n.4542+14585A>G
2g.227007463T>GCA431671846COL4A4c.537A>C (p.Ala179=)
c.4935A>C (p.Ala1645=)
c.4380A>C (p.Ala1460=)
c.4746A>C (p.Ala1582=)
c.4809+555A>C (n.4809+555A>C)
c.4216+14585A>C (n.4216+14585A>C)
c.4854A>C (p.Ala1618=)
c.4827A>C (p.Ala1609=)
c.3261A>C (p.Ala1087=)
n.5119+555A>C
n.4526+14585A>C
c.4818A>C (p.Ala1606=)
n.5135+555A>C
n.5007A>C
n.4542+14585A>C
2g.227007464G>ACA351140151COL4A4c.536C>T (p.Ala179Val)
c.4934C>T (p.Ala1645Val)
c.4379C>T (p.Ala1460Val)
c.4745C>T (p.Ala1582Val)
c.4809+554C>T (n.4809+554C>T)
c.4216+14584C>T (n.4216+14584C>T)
c.4853C>T (p.Ala1618Val)
c.4826C>T (p.Ala1609Val)
c.3260C>T (p.Ala1087Val)
n.5119+554C>T
n.4526+14584C>T
c.4817C>T (p.Ala1606Val)
n.5135+554C>T
n.5006C>T
n.4542+14584C>T
 gnomAD v4
2g.227007464G>CCA351140152COL4A4c.536C>G (p.Ala179Gly)
c.4934C>G (p.Ala1645Gly)
c.4379C>G (p.Ala1460Gly)
c.4745C>G (p.Ala1582Gly)
c.4809+554C>G (n.4809+554C>G)
c.4216+14584C>G (n.4216+14584C>G)
c.4853C>G (p.Ala1618Gly)
c.4826C>G (p.Ala1609Gly)
c.3260C>G (p.Ala1087Gly)
n.5119+554C>G
n.4526+14584C>G
c.4817C>G (p.Ala1606Gly)
n.5135+554C>G
n.5006C>G
n.4542+14584C>G
2g.227007464G>TCA351140153COL4A4c.536C>A (p.Ala179Glu)
c.4934C>A (p.Ala1645Glu)
c.4379C>A (p.Ala1460Glu)
c.4745C>A (p.Ala1582Glu)
c.4809+554C>A (n.4809+554C>A)
c.4216+14584C>A (n.4216+14584C>A)
c.4853C>A (p.Ala1618Glu)
c.4826C>A (p.Ala1609Glu)
c.3260C>A (p.Ala1087Glu)
n.5119+554C>A
n.4526+14584C>A
c.4817C>A (p.Ala1606Glu)
n.5135+554C>A
n.5006C>A
n.4542+14584C>A
2g.227007465C>ACA351140154COL4A4c.535G>T (p.Ala179Ser)
c.4933G>T (p.Ala1645Ser)
c.4378G>T (p.Ala1460Ser)
c.4744G>T (p.Ala1582Ser)
c.4809+553G>T (n.4809+553G>T)
c.4216+14583G>T (n.4216+14583G>T)
c.4852G>T (p.Ala1618Ser)
c.4825G>T (p.Ala1609Ser)
c.3259G>T (p.Ala1087Ser)
n.5119+553G>T
n.4526+14583G>T
c.4816G>T (p.Ala1606Ser)
n.5135+553G>T
n.5005G>T
n.4542+14583G>T
2g.227007465C=CA1332723604COL4A4c.535G= (p.Ala179=)
c.4933G= (p.Ala1645=)
c.4378G= (p.Ala1460=)
c.4744G= (p.Ala1582=)
c.4809+553G= (n.4809+553G=)
c.4216+14583G= (n.4216+14583G=)
c.4852G= (p.Ala1618=)
c.4825G= (p.Ala1609=)
c.3259G= (p.Ala1087=)
n.5119+553G=
n.4526+14583G=
c.4816G= (p.Ala1606=)
n.5135+553G=
n.5005G=
n.4542+14583G=
2g.227007465C>GCA351140155COL4A4c.535G>C (p.Ala179Pro)
c.4933G>C (p.Ala1645Pro)
c.4378G>C (p.Ala1460Pro)
c.4744G>C (p.Ala1582Pro)
c.4809+553G>C (n.4809+553G>C)
c.4216+14583G>C (n.4216+14583G>C)
c.4852G>C (p.Ala1618Pro)
c.4825G>C (p.Ala1609Pro)
c.3259G>C (p.Ala1087Pro)
n.5119+553G>C
n.4526+14583G>C
c.4816G>C (p.Ala1606Pro)
n.5135+553G>C
n.5005G>C
n.4542+14583G>C
2g.227007465C>TCA2144017COL4A4c.535G>A (p.Ala179Thr)
c.4933G>A (p.Ala1645Thr)
c.4378G>A (p.Ala1460Thr)
c.4744G>A (p.Ala1582Thr)
c.4809+553G>A (n.4809+553G>A)
c.4216+14583G>A (n.4216+14583G>A)
c.4852G>A (p.Ala1618Thr)
c.4825G>A (p.Ala1609Thr)
c.3259G>A (p.Ala1087Thr)
n.5119+553G>A
n.4526+14583G>A
c.4816G>A (p.Ala1606Thr)
n.5135+553G>A
n.5005G>A
n.4542+14583G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227007465_227007466delinsCGCA1332723605COL4A4c.534_535delinsCG (p.Phe178=)
c.4932_4933delinsCG (p.Phe1644=)
c.4377_4378delinsCG (p.Phe1459=)
c.4743_4744delinsCG (p.Phe1581=)
c.4809+552_4809+553delinsCG (n.4809+552_4809+553delinsCG)
c.4216+14582_4216+14583delinsCG (n.4216+14582_4216+14583delinsCG)
c.4851_4852delinsCG (p.Phe1617=)
c.4824_4825delinsCG (p.Phe1608=)
c.3258_3259delinsCG (p.Phe1086=)
n.5119+552_5119+553delinsCG
n.4526+14582_4526+14583delinsCG
c.4815_4816delinsCG (p.Phe1605=)
n.5135+552_5135+553delinsCG
n.5004_5005delinsCG
n.4542+14582_4542+14583delinsCG
2g.227007465_227007466insACA540312173COL4A4c.534_535insT (p.Ala179CysfsTer3)
c.4932_4933insT (p.Ala1645CysfsTer3)
c.4377_4378insT (p.Ala1460CysfsTer3)
c.4743_4744insT (p.Ala1582CysfsTer3)
c.4809+552_4809+553insT (n.4809+552_4809+553insT)
c.4216+14582_4216+14583insT (n.4216+14582_4216+14583insT)
c.4851_4852insT (p.Ala1618CysfsTer3)
c.4824_4825insT (p.Ala1609CysfsTer3)
c.3258_3259insT (p.Ala1087CysfsTer3)
n.5119+552_5119+553insT
n.4526+14582_4526+14583insT
c.4815_4816insT (p.Ala1606CysfsTer3)
n.5135+552_5135+553insT
n.5004_5005insT
n.4542+14582_4542+14583insT
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227007466G>ACA2144018COL4A4c.534C>T (p.Phe178=)
c.4932C>T (p.Phe1644=)
c.4377C>T (p.Phe1459=)
c.4743C>T (p.Phe1581=)
c.4809+552C>T (n.4809+552C>T)
c.4216+14582C>T (n.4216+14582C>T)
c.4851C>T (p.Phe1617=)
c.4824C>T (p.Phe1608=)
c.*694C>T (n.*694C>T)
c.3258C>T (p.Phe1086=)
n.5119+552C>T
n.4526+14582C>T
c.*381C>T (n.*381C>T)
c.4815C>T (p.Phe1605=)
n.5135+552C>T
n.5004C>T
n.4542+14582C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007466G>CCA351140156COL4A4c.534C>G (p.Phe178Leu)
c.4932C>G (p.Phe1644Leu)
c.4377C>G (p.Phe1459Leu)
c.4743C>G (p.Phe1581Leu)
c.4809+552C>G (n.4809+552C>G)
c.4216+14582C>G (n.4216+14582C>G)
c.4851C>G (p.Phe1617Leu)
c.4824C>G (p.Phe1608Leu)
c.*694C>G (n.*694C>G)
c.3258C>G (p.Phe1086Leu)
n.5119+552C>G
n.4526+14582C>G
c.*381C>G (n.*381C>G)
c.4815C>G (p.Phe1605Leu)
n.5135+552C>G
n.5004C>G
n.4542+14582C>G
2g.227007466G=CA1332723606COL4A4c.534C= (p.Phe178=)
c.4932C= (p.Phe1644=)
c.4377C= (p.Phe1459=)
c.4743C= (p.Phe1581=)
c.4809+552C= (n.4809+552C=)
c.4216+14582C= (n.4216+14582C=)
c.4851C= (p.Phe1617=)
c.4824C= (p.Phe1608=)
c.*694C= (n.*694C=)
c.3258C= (p.Phe1086=)
n.5119+552C=
n.4526+14582C=
c.*381C= (n.*381C=)
c.4815C= (p.Phe1605=)
n.5135+552C=
n.5004C=
n.4542+14582C=
2g.227007466G>TCA351140157COL4A4c.534C>A (p.Phe178Leu)
c.4932C>A (p.Phe1644Leu)
c.4377C>A (p.Phe1459Leu)
c.4743C>A (p.Phe1581Leu)
c.4809+552C>A (n.4809+552C>A)
c.4216+14582C>A (n.4216+14582C>A)
c.4851C>A (p.Phe1617Leu)
c.4824C>A (p.Phe1608Leu)
c.*694C>A (n.*694C>A)
c.3258C>A (p.Phe1086Leu)
n.5119+552C>A
n.4526+14582C>A
c.*381C>A (n.*381C>A)
c.4815C>A (p.Phe1605Leu)
n.5135+552C>A
n.5004C>A
n.4542+14582C>A
2g.227007466delinsAACA658821836COL4A4c.534delinsTT (p.Ala179CysfsTer3)
c.4932delinsTT (p.Ala1645CysfsTer3)
c.4377delinsTT (p.Ala1460CysfsTer3)
c.4743delinsTT (p.Ala1582CysfsTer3)
c.4809+552delinsTT (n.4809+552delinsTT)
c.4216+14582delinsTT (n.4216+14582delinsTT)
c.4851delinsTT (p.Ala1618CysfsTer3)
c.4824delinsTT (p.Ala1609CysfsTer3)
c.*694delinsTT (n.*694delinsTT)
c.3258delinsTT (p.Ala1087CysfsTer3)
n.5119+552delinsTT
n.4526+14582delinsTT
c.*381delinsTT (n.*381delinsTT)
c.4815delinsTT (p.Ala1606CysfsTer3)
n.5135+552delinsTT
n.5004delinsTT
n.4542+14582delinsTT
 ClinVar dbSNP
2g.227007467A>CCA351140160COL4A4c.533T>G (p.Phe178Cys)
c.4931T>G (p.Phe1644Cys)
c.4376T>G (p.Phe1459Cys)
c.4742T>G (p.Phe1581Cys)
c.4809+551T>G (n.4809+551T>G)
c.4216+14581T>G (n.4216+14581T>G)
c.4850T>G (p.Phe1617Cys)
c.4823T>G (p.Phe1608Cys)
c.*693T>G (n.*693T>G)
c.3257T>G (p.Phe1086Cys)
n.5119+551T>G
n.4526+14581T>G
c.*380T>G (n.*380T>G)
c.4814T>G (p.Phe1605Cys)
n.5135+551T>G
n.5003T>G
n.4542+14581T>G
2g.227007467A>GCA351140159COL4A4c.533T>C (p.Phe178Ser)
c.4931T>C (p.Phe1644Ser)
c.4376T>C (p.Phe1459Ser)
c.4742T>C (p.Phe1581Ser)
c.4809+551T>C (n.4809+551T>C)
c.4216+14581T>C (n.4216+14581T>C)
c.4850T>C (p.Phe1617Ser)
c.4823T>C (p.Phe1608Ser)
c.*693T>C (n.*693T>C)
c.3257T>C (p.Phe1086Ser)
n.5119+551T>C
n.4526+14581T>C
c.*380T>C (n.*380T>C)
c.4814T>C (p.Phe1605Ser)
n.5135+551T>C
n.5003T>C
n.4542+14581T>C
2g.227007467A>TCA351140158COL4A4c.533T>A (p.Phe178Tyr)
c.4931T>A (p.Phe1644Tyr)
c.4376T>A (p.Phe1459Tyr)
c.4742T>A (p.Phe1581Tyr)
c.4809+551T>A (n.4809+551T>A)
c.4216+14581T>A (n.4216+14581T>A)
c.4850T>A (p.Phe1617Tyr)
c.4823T>A (p.Phe1608Tyr)
c.*693T>A (n.*693T>A)
c.3257T>A (p.Phe1086Tyr)
n.5119+551T>A
n.4526+14581T>A
c.*380T>A (n.*380T>A)
c.4814T>A (p.Phe1605Tyr)
n.5135+551T>A
n.5003T>A
n.4542+14581T>A
2g.227007471_227007472insAAAAAAAAACA1043044230COL4A4c.533_534insTTTTTTTTT (p.Phe178_Ala179insPhePhePhe)
c.4931_4932insTTTTTTTTT (p.Phe1644_Ala1645insPhePhePhe)
c.4376_4377insTTTTTTTTT (p.Phe1459_Ala1460insPhePhePhe)
c.4742_4743insTTTTTTTTT (p.Phe1581_Ala1582insPhePhePhe)
c.4809+551_4809+552insTTTTTTTTT (n.4809+551_4809+552insTTTTTTTTT)
c.4216+14581_4216+14582insTTTTTTTTT (n.4216+14581_4216+14582insTTTTTTTTT)
c.4850_4851insTTTTTTTTT (p.Phe1617_Ala1618insPhePhePhe)
c.4823_4824insTTTTTTTTT (p.Phe1608_Ala1609insPhePhePhe)
c.*693_*694insTTTTTTTTT (n.*693_*694insTTTTTTTTT)
c.3257_3258insTTTTTTTTT (p.Phe1086_Ala1087insPhePhePhe)
n.5119+551_5119+552insTTTTTTTTT
n.4526+14581_4526+14582insTTTTTTTTT
c.*380_*381insTTTTTTTTT (n.*380_*381insTTTTTTTTT)
c.4814_4815insTTTTTTTTT (p.Phe1605_Ala1606insPhePhePhe)
n.5135+551_5135+552insTTTTTTTTT
n.5003_5004insTTTTTTTTT
n.4542+14581_4542+14582insTTTTTTTTT
 gnomAD v3 gnomAD v4
2g.227007471_227007472insAAAAAAAAAACA2607550890COL4A4c.533_534insTTTTTTTTTT (p.Ala179PhefsTer6)
c.4931_4932insTTTTTTTTTT (p.Ala1645PhefsTer6)
c.4376_4377insTTTTTTTTTT (p.Ala1460PhefsTer6)
c.4742_4743insTTTTTTTTTT (p.Ala1582PhefsTer6)
c.4809+551_4809+552insTTTTTTTTTT (n.4809+551_4809+552insTTTTTTTTTT)
c.4216+14581_4216+14582insTTTTTTTTTT (n.4216+14581_4216+14582insTTTTTTTTTT)
c.4850_4851insTTTTTTTTTT (p.Ala1618PhefsTer6)
c.4823_4824insTTTTTTTTTT (p.Ala1609PhefsTer6)
c.*693_*694insTTTTTTTTTT (n.*693_*694insTTTTTTTTTT)
c.3257_3258insTTTTTTTTTT (p.Ala1087PhefsTer6)
n.5119+551_5119+552insTTTTTTTTTT
n.4526+14581_4526+14582insTTTTTTTTTT
c.*380_*381insTTTTTTTTTT (n.*380_*381insTTTTTTTTTT)
c.4814_4815insTTTTTTTTTT (p.Ala1606PhefsTer6)
n.5135+551_5135+552insTTTTTTTTTT
n.5003_5004insTTTTTTTTTT
n.4542+14581_4542+14582insTTTTTTTTTT
 gnomAD v3 gnomAD v4
2g.227007469_227007471dupCA1043044228COL4A4c.531_533dup (p.Phe178_Ala179insPhe)
c.4929_4931dup (p.Phe1644_Ala1645insPhe)
c.4374_4376dup (p.Phe1459_Ala1460insPhe)
c.4740_4742dup (p.Phe1581_Ala1582insPhe)
c.4809+549_4809+551dup (n.4809+549_4809+551dup)
c.4216+14579_4216+14581dup (n.4216+14579_4216+14581dup)
c.4848_4850dup (p.Phe1617_Ala1618insPhe)
c.4821_4823dup (p.Phe1608_Ala1609insPhe)
c.*691_*693dup (n.*691_*693dup)
c.3255_3257dup (p.Phe1086_Ala1087insPhe)
n.5119+549_5119+551dup
n.4526+14579_4526+14581dup
c.*378_*380dup (n.*378_*380dup)
c.4812_4814dup (p.Phe1605_Ala1606insPhe)
n.5135+549_5135+551dup
n.5001_5003dup
n.4542+14579_4542+14581dup
 gnomAD v3 gnomAD v4
2g.227007468A>CCA351140161COL4A4c.532T>G (p.Phe178Val)
c.4930T>G (p.Phe1644Val)
c.4375T>G (p.Phe1459Val)
c.4741T>G (p.Phe1581Val)
c.4809+550T>G (n.4809+550T>G)
c.4216+14580T>G (n.4216+14580T>G)
c.4849T>G (p.Phe1617Val)
c.4822T>G (p.Phe1608Val)
c.*692T>G (n.*692T>G)
c.3256T>G (p.Phe1086Val)
n.5119+550T>G
n.4526+14580T>G
c.*379T>G (n.*379T>G)
c.4813T>G (p.Phe1605Val)
n.5135+550T>G
n.5002T>G
n.4542+14580T>G
2g.227007468A>GCA351140162COL4A4c.532T>C (p.Phe178Leu)
c.4930T>C (p.Phe1644Leu)
c.4375T>C (p.Phe1459Leu)
c.4741T>C (p.Phe1581Leu)
c.4809+550T>C (n.4809+550T>C)
c.4216+14580T>C (n.4216+14580T>C)
c.4849T>C (p.Phe1617Leu)
c.4822T>C (p.Phe1608Leu)
c.*692T>C (n.*692T>C)
c.3256T>C (p.Phe1086Leu)
n.5119+550T>C
n.4526+14580T>C
c.*379T>C (n.*379T>C)
c.4813T>C (p.Phe1605Leu)
n.5135+550T>C
n.5002T>C
n.4542+14580T>C
2g.227007468A>TCA351140163COL4A4c.532T>A (p.Phe178Ile)
c.4930T>A (p.Phe1644Ile)
c.4375T>A (p.Phe1459Ile)
c.4741T>A (p.Phe1581Ile)
c.4809+550T>A (n.4809+550T>A)
c.4216+14580T>A (n.4216+14580T>A)
c.4849T>A (p.Phe1617Ile)
c.4822T>A (p.Phe1608Ile)
c.*692T>A (n.*692T>A)
c.3256T>A (p.Phe1086Ile)
n.5119+550T>A
n.4526+14580T>A
c.*379T>A (n.*379T>A)
c.4813T>A (p.Phe1605Ile)
n.5135+550T>A
n.5002T>A
n.4542+14580T>A
2g.227007469A>CCA351140164COL4A4c.531T>G (p.Phe177Leu)
c.4929T>G (p.Phe1643Leu)
c.4374T>G (p.Phe1458Leu)
c.4740T>G (p.Phe1580Leu)
c.4809+549T>G (n.4809+549T>G)
c.4216+14579T>G (n.4216+14579T>G)
c.4848T>G (p.Phe1616Leu)
c.4821T>G (p.Phe1607Leu)
c.*691T>G (n.*691T>G)
c.3255T>G (p.Phe1085Leu)
n.5119+549T>G
n.4526+14579T>G
c.*378T>G (n.*378T>G)
c.4812T>G (p.Phe1604Leu)
n.5135+549T>G
n.5001T>G
n.4542+14579T>G
2g.227007469A>GCA431671848COL4A4c.531T>C (p.Phe177=)
c.4929T>C (p.Phe1643=)
c.4374T>C (p.Phe1458=)
c.4740T>C (p.Phe1580=)
c.4809+549T>C (n.4809+549T>C)
c.4216+14579T>C (n.4216+14579T>C)
c.4848T>C (p.Phe1616=)
c.4821T>C (p.Phe1607=)
c.*691T>C (n.*691T>C)
c.3255T>C (p.Phe1085=)
n.5119+549T>C
n.4526+14579T>C
c.*378T>C (n.*378T>C)
c.4812T>C (p.Phe1604=)
n.5135+549T>C
n.5001T>C
n.4542+14579T>C
2g.227007469A>TCA351140165COL4A4c.531T>A (p.Phe177Leu)
c.4929T>A (p.Phe1643Leu)
c.4374T>A (p.Phe1458Leu)
c.4740T>A (p.Phe1580Leu)
c.4809+549T>A (n.4809+549T>A)
c.4216+14579T>A (n.4216+14579T>A)
c.4848T>A (p.Phe1616Leu)
c.4821T>A (p.Phe1607Leu)
c.*691T>A (n.*691T>A)
c.3255T>A (p.Phe1085Leu)
n.5119+549T>A
n.4526+14579T>A
c.*378T>A (n.*378T>A)
c.4812T>A (p.Phe1604Leu)
n.5135+549T>A
n.5001T>A
n.4542+14579T>A
2g.227007470A>CCA351140166COL4A4c.530T>G (p.Phe177Cys)
c.4928T>G (p.Phe1643Cys)
c.4373T>G (p.Phe1458Cys)
c.4739T>G (p.Phe1580Cys)
c.4809+548T>G (n.4809+548T>G)
c.4216+14578T>G (n.4216+14578T>G)
c.4847T>G (p.Phe1616Cys)
c.4820T>G (p.Phe1607Cys)
c.*690T>G (n.*690T>G)
c.3254T>G (p.Phe1085Cys)
n.5119+548T>G
n.4526+14578T>G
c.*377T>G (n.*377T>G)
c.4811T>G (p.Phe1604Cys)
n.5135+548T>G
n.5000T>G
n.4542+14578T>G
2g.227007470A>GCA351140167COL4A4c.530T>C (p.Phe177Ser)
c.4928T>C (p.Phe1643Ser)
c.4373T>C (p.Phe1458Ser)
c.4739T>C (p.Phe1580Ser)
c.4809+548T>C (n.4809+548T>C)
c.4216+14578T>C (n.4216+14578T>C)
c.4847T>C (p.Phe1616Ser)
c.4820T>C (p.Phe1607Ser)
c.*690T>C (n.*690T>C)
c.3254T>C (p.Phe1085Ser)
n.5119+548T>C
n.4526+14578T>C
c.*377T>C (n.*377T>C)
c.4811T>C (p.Phe1604Ser)
n.5135+548T>C
n.5000T>C
n.4542+14578T>C
2g.227007470A>TCA351140168COL4A4c.530T>A (p.Phe177Tyr)
c.4928T>A (p.Phe1643Tyr)
c.4373T>A (p.Phe1458Tyr)
c.4739T>A (p.Phe1580Tyr)
c.4809+548T>A (n.4809+548T>A)
c.4216+14578T>A (n.4216+14578T>A)
c.4847T>A (p.Phe1616Tyr)
c.4820T>A (p.Phe1607Tyr)
c.*690T>A (n.*690T>A)
c.3254T>A (p.Phe1085Tyr)
n.5119+548T>A
n.4526+14578T>A
c.*377T>A (n.*377T>A)
c.4811T>A (p.Phe1604Tyr)
n.5135+548T>A
n.5000T>A
n.4542+14578T>A
2g.227007471A>CCA351140169COL4A4c.529T>G (p.Phe177Val)
c.4927T>G (p.Phe1643Val)
c.4372T>G (p.Phe1458Val)
c.4738T>G (p.Phe1580Val)
c.4809+547T>G (n.4809+547T>G)
c.4216+14577T>G (n.4216+14577T>G)
c.4846T>G (p.Phe1616Val)
c.4819T>G (p.Phe1607Val)
c.*689T>G (n.*689T>G)
c.3253T>G (p.Phe1085Val)
n.5119+547T>G
n.4526+14577T>G
c.*376T>G (n.*376T>G)
c.4810T>G (p.Phe1604Val)
n.5135+547T>G
n.4999T>G
n.4542+14577T>G
 gnomAD v4
2g.227007471A>GCA351140170COL4A4c.529T>C (p.Phe177Leu)
c.4927T>C (p.Phe1643Leu)
c.4372T>C (p.Phe1458Leu)
c.4738T>C (p.Phe1580Leu)
c.4809+547T>C (n.4809+547T>C)
c.4216+14577T>C (n.4216+14577T>C)
c.4846T>C (p.Phe1616Leu)
c.4819T>C (p.Phe1607Leu)
c.*689T>C (n.*689T>C)
c.3253T>C (p.Phe1085Leu)
n.5119+547T>C
n.4526+14577T>C
c.*376T>C (n.*376T>C)
c.4810T>C (p.Phe1604Leu)
n.5135+547T>C
n.4999T>C
n.4542+14577T>C
2g.227007471A>TCA351140171COL4A4c.529T>A (p.Phe177Ile)
c.4927T>A (p.Phe1643Ile)
c.4372T>A (p.Phe1458Ile)
c.4738T>A (p.Phe1580Ile)
c.4809+547T>A (n.4809+547T>A)
c.4216+14577T>A (n.4216+14577T>A)
c.4846T>A (p.Phe1616Ile)
c.4819T>A (p.Phe1607Ile)
c.*689T>A (n.*689T>A)
c.3253T>A (p.Phe1085Ile)
n.5119+547T>A
n.4526+14577T>A
c.*376T>A (n.*376T>A)
c.4810T>A (p.Phe1604Ile)
n.5135+547T>A
n.4999T>A
n.4542+14577T>A
2g.227007472G>ACA431671849COL4A4c.528C>T (p.His176=)
c.4926C>T (p.His1642=)
c.4371C>T (p.His1457=)
c.4737C>T (p.His1579=)
c.4809+546C>T (n.4809+546C>T)
c.4216+14576C>T (n.4216+14576C>T)
c.4845C>T (p.His1615=)
c.4818C>T (p.His1606=)
c.*688C>T (n.*688C>T)
c.3252C>T (p.His1084=)
n.5119+546C>T
n.4526+14576C>T
c.*375C>T (n.*375C>T)
c.4809C>T (p.His1603=)
n.5135+546C>T
n.4998C>T
n.4542+14576C>T
2g.227007472G>CCA351140172COL4A4c.528C>G (p.His176Gln)
c.4926C>G (p.His1642Gln)
c.4371C>G (p.His1457Gln)
c.4737C>G (p.His1579Gln)
c.4809+546C>G (n.4809+546C>G)
c.4216+14576C>G (n.4216+14576C>G)
c.4845C>G (p.His1615Gln)
c.4818C>G (p.His1606Gln)
c.*688C>G (n.*688C>G)
c.3252C>G (p.His1084Gln)
n.5119+546C>G
n.4526+14576C>G
c.*375C>G (n.*375C>G)
c.4809C>G (p.His1603Gln)
n.5135+546C>G
n.4998C>G
n.4542+14576C>G
2g.227007472G>TCA351140173COL4A4c.528C>A (p.His176Gln)
c.4926C>A (p.His1642Gln)
c.4371C>A (p.His1457Gln)
c.4737C>A (p.His1579Gln)
c.4809+546C>A (n.4809+546C>A)
c.4216+14576C>A (n.4216+14576C>A)
c.4845C>A (p.His1615Gln)
c.4818C>A (p.His1606Gln)
c.*688C>A (n.*688C>A)
c.3252C>A (p.His1084Gln)
n.5119+546C>A
n.4526+14576C>A
c.*375C>A (n.*375C>A)
c.4809C>A (p.His1603Gln)
n.5135+546C>A
n.4998C>A
n.4542+14576C>A
2g.227007473T>ACA351140175COL4A4c.527A>T (p.His176Leu)
c.4925A>T (p.His1642Leu)
c.4370A>T (p.His1457Leu)
c.4736A>T (p.His1579Leu)
c.4809+545A>T (n.4809+545A>T)
c.4216+14575A>T (n.4216+14575A>T)
c.4844A>T (p.His1615Leu)
c.4817A>T (p.His1606Leu)
c.*687A>T (n.*687A>T)
c.3251A>T (p.His1084Leu)
n.5119+545A>T
n.4526+14575A>T
c.*374A>T (n.*374A>T)
c.4808A>T (p.His1603Leu)
n.5135+545A>T
n.4997A>T
n.4542+14575A>T
2g.227007473T>CCA351140176COL4A4c.527A>G (p.His176Arg)
c.4925A>G (p.His1642Arg)
c.4370A>G (p.His1457Arg)
c.4736A>G (p.His1579Arg)
c.4809+545A>G (n.4809+545A>G)
c.4216+14575A>G (n.4216+14575A>G)
c.4844A>G (p.His1615Arg)
c.4817A>G (p.His1606Arg)
c.*687A>G (n.*687A>G)
c.3251A>G (p.His1084Arg)
n.5119+545A>G
n.4526+14575A>G
c.*374A>G (n.*374A>G)
c.4808A>G (p.His1603Arg)
n.5135+545A>G
n.4997A>G
n.4542+14575A>G
 dbSNP gnomAD v2 gnomAD v4
2g.227007473T>GCA351140174COL4A4c.527A>C (p.His176Pro)
c.4925A>C (p.His1642Pro)
c.4370A>C (p.His1457Pro)
c.4736A>C (p.His1579Pro)
c.4809+545A>C (n.4809+545A>C)
c.4216+14575A>C (n.4216+14575A>C)
c.4844A>C (p.His1615Pro)
c.4817A>C (p.His1606Pro)
c.*687A>C (n.*687A>C)
c.3251A>C (p.His1084Pro)
n.5119+545A>C
n.4526+14575A>C
c.*374A>C (n.*374A>C)
c.4808A>C (p.His1603Pro)
n.5135+545A>C
n.4997A>C
n.4542+14575A>C
2g.227007473T=CA1332723607COL4A4c.527A= (p.His176=)
c.4925A= (p.His1642=)
c.4370A= (p.His1457=)
c.4736A= (p.His1579=)
c.4809+545A= (n.4809+545A=)
c.4216+14575A= (n.4216+14575A=)
c.4844A= (p.His1615=)
c.4817A= (p.His1606=)
c.*687A= (n.*687A=)
c.3251A= (p.His1084=)
n.5119+545A=
n.4526+14575A=
c.*374A= (n.*374A=)
c.4808A= (p.His1603=)
n.5135+545A=
n.4997A=
n.4542+14575A=
2g.227007474G>ACA2144019COL4A4c.526C>T (p.His176Tyr)
c.4924C>T (p.His1642Tyr)
c.4369C>T (p.His1457Tyr)
c.4735C>T (p.His1579Tyr)
c.4809+544C>T (n.4809+544C>T)
c.4216+14574C>T (n.4216+14574C>T)
c.4843C>T (p.His1615Tyr)
c.4816C>T (p.His1606Tyr)
c.*686C>T (n.*686C>T)
c.3250C>T (p.His1084Tyr)
n.5119+544C>T
n.4526+14574C>T
c.*373C>T (n.*373C>T)
c.4807C>T (p.His1603Tyr)
n.5135+544C>T
n.4996C>T
n.4542+14574C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007474G>CCA351140177COL4A4c.526C>G (p.His176Asp)
c.4924C>G (p.His1642Asp)
c.4369C>G (p.His1457Asp)
c.4735C>G (p.His1579Asp)
c.4809+544C>G (n.4809+544C>G)
c.4216+14574C>G (n.4216+14574C>G)
c.4843C>G (p.His1615Asp)
c.4816C>G (p.His1606Asp)
c.*686C>G (n.*686C>G)
c.3250C>G (p.His1084Asp)
n.5119+544C>G
n.4526+14574C>G
c.*373C>G (n.*373C>G)
c.4807C>G (p.His1603Asp)
n.5135+544C>G
n.4996C>G
n.4542+14574C>G
2g.227007474G=CA1332723608COL4A4c.526C= (p.His176=)
c.4924C= (p.His1642=)
c.4369C= (p.His1457=)
c.4735C= (p.His1579=)
c.4809+544C= (n.4809+544C=)
c.4216+14574C= (n.4216+14574C=)
c.4843C= (p.His1615=)
c.4816C= (p.His1606=)
c.*686C= (n.*686C=)
c.3250C= (p.His1084=)
n.5119+544C=
n.4526+14574C=
c.*373C= (n.*373C=)
c.4807C= (p.His1603=)
n.5135+544C=
n.4996C=
n.4542+14574C=
2g.227007474G>TCA351140178COL4A4c.526C>A (p.His176Asn)
c.4924C>A (p.His1642Asn)
c.4369C>A (p.His1457Asn)
c.4735C>A (p.His1579Asn)
c.4809+544C>A (n.4809+544C>A)
c.4216+14574C>A (n.4216+14574C>A)
c.4843C>A (p.His1615Asn)
c.4816C>A (p.His1606Asn)
c.*686C>A (n.*686C>A)
c.3250C>A (p.His1084Asn)
n.5119+544C>A
n.4526+14574C>A
c.*373C>A (n.*373C>A)
c.4807C>A (p.His1603Asn)
n.5135+544C>A
n.4996C>A
n.4542+14574C>A
2g.227007475G>ACA431671850COL4A4c.525C>T (p.Cys175=)
c.4923C>T (p.Cys1641=)
c.4368C>T (p.Cys1456=)
c.4734C>T (p.Cys1578=)
c.4809+543C>T (n.4809+543C>T)
c.4216+14573C>T (n.4216+14573C>T)
c.4842C>T (p.Cys1614=)
c.4815C>T (p.Cys1605=)
c.*685C>T (n.*685C>T)
c.3249C>T (p.Cys1083=)
n.5119+543C>T
n.4526+14573C>T
c.*372C>T (n.*372C>T)
c.4806C>T (p.Cys1602=)
n.5135+543C>T
n.4995C>T
n.4542+14573C>T
2g.227007475G>CCA351140179COL4A4c.525C>G (p.Cys175Trp)
c.4923C>G (p.Cys1641Trp)
c.4368C>G (p.Cys1456Trp)
c.4734C>G (p.Cys1578Trp)
c.4809+543C>G (n.4809+543C>G)
c.4216+14573C>G (n.4216+14573C>G)
c.4842C>G (p.Cys1614Trp)
c.4815C>G (p.Cys1605Trp)
c.*685C>G (n.*685C>G)
c.3249C>G (p.Cys1083Trp)
n.5119+543C>G
n.4526+14573C>G
c.*372C>G (n.*372C>G)
c.4806C>G (p.Cys1602Trp)
n.5135+543C>G
n.4995C>G
n.4542+14573C>G
2g.227007475G=CA1332723609COL4A4c.525C= (p.Cys175=)
c.4923C= (p.Cys1641=)
c.4368C= (p.Cys1456=)
c.4734C= (p.Cys1578=)
c.4809+543C= (n.4809+543C=)
c.4216+14573C= (n.4216+14573C=)
c.4842C= (p.Cys1614=)
c.4815C= (p.Cys1605=)
c.*685C= (n.*685C=)
c.3249C= (p.Cys1083=)
n.5119+543C=
n.4526+14573C=
c.*372C= (n.*372C=)
c.4806C= (p.Cys1602=)
n.5135+543C=
n.4995C=
n.4542+14573C=
2g.227007475G>TCA257922COL4A4c.525C>A (p.Cys175Ter)
c.4923C>A (p.Cys1641Ter)
c.4368C>A (p.Cys1456Ter)
c.4734C>A (p.Cys1578Ter)
c.4809+543C>A (n.4809+543C>A)
c.4216+14573C>A (n.4216+14573C>A)
c.4842C>A (p.Cys1614Ter)
c.4815C>A (p.Cys1605Ter)
c.*685C>A (n.*685C>A)
c.3249C>A (p.Cys1083Ter)
n.5119+543C>A
n.4526+14573C>A
c.*372C>A (n.*372C>A)
c.4806C>A (p.Cys1602Ter)
n.5135+543C>A
n.4995C>A
n.4542+14573C>A
 ClinVar dbSNP gnomAD v4
2g.227007476C>ACA351140180COL4A4c.524G>T (p.Cys175Phe)
c.4922G>T (p.Cys1641Phe)
c.4367G>T (p.Cys1456Phe)
c.4733G>T (p.Cys1578Phe)
c.4809+542G>T (n.4809+542G>T)
c.4216+14572G>T (n.4216+14572G>T)
c.4841G>T (p.Cys1614Phe)
c.4814G>T (p.Cys1605Phe)
c.*684G>T (n.*684G>T)
c.3248G>T (p.Cys1083Phe)
n.5119+542G>T
n.4526+14572G>T
c.*371G>T (n.*371G>T)
c.4805G>T (p.Cys1602Phe)
n.5135+542G>T
n.4994G>T
n.4542+14572G>T
2g.227007476C=CA1332723610COL4A4c.524G= (p.Cys175=)
c.4922G= (p.Cys1641=)
c.4367G= (p.Cys1456=)
c.4733G= (p.Cys1578=)
c.4809+542G= (n.4809+542G=)
c.4216+14572G= (n.4216+14572G=)
c.4841G= (p.Cys1614=)
c.4814G= (p.Cys1605=)
c.*684G= (n.*684G=)
c.3248G= (p.Cys1083=)
n.5119+542G=
n.4526+14572G=
c.*371G= (n.*371G=)
c.4805G= (p.Cys1602=)
n.5135+542G=
n.4994G=
n.4542+14572G=
2g.227007476C>GCA351140181COL4A4c.524G>C (p.Cys175Ser)
c.4922G>C (p.Cys1641Ser)
c.4367G>C (p.Cys1456Ser)
c.4733G>C (p.Cys1578Ser)
c.4809+542G>C (n.4809+542G>C)
c.4216+14572G>C (n.4216+14572G>C)
c.4841G>C (p.Cys1614Ser)
c.4814G>C (p.Cys1605Ser)
c.*684G>C (n.*684G>C)
c.3248G>C (p.Cys1083Ser)
n.5119+542G>C
n.4526+14572G>C
c.*371G>C (n.*371G>C)
c.4805G>C (p.Cys1602Ser)
n.5135+542G>C
n.4994G>C
n.4542+14572G>C
2g.227007476C>TCA67238238COL4A4c.524G>A (p.Cys175Tyr)
c.4922G>A (p.Cys1641Tyr)
c.4367G>A (p.Cys1456Tyr)
c.4733G>A (p.Cys1578Tyr)
c.4809+542G>A (n.4809+542G>A)
c.4216+14572G>A (n.4216+14572G>A)
c.4841G>A (p.Cys1614Tyr)
c.4814G>A (p.Cys1605Tyr)
c.*684G>A (n.*684G>A)
c.3248G>A (p.Cys1083Tyr)
n.5119+542G>A
n.4526+14572G>A
c.*371G>A (n.*371G>A)
c.4805G>A (p.Cys1602Tyr)
n.5135+542G>A
n.4994G>A
n.4542+14572G>A
 dbSNP
2g.227007477A=CA1332723611COL4A4c.523T= (p.Cys175=)
c.4921T= (p.Cys1641=)
c.4366T= (p.Cys1456=)
c.4732T= (p.Cys1578=)
c.4809+541T= (n.4809+541T=)
c.4216+14571T= (n.4216+14571T=)
c.4840T= (p.Cys1614=)
c.4813T= (p.Cys1605=)
c.*683T= (n.*683T=)
c.3247T= (p.Cys1083=)
n.5119+541T=
n.4526+14571T=
c.*370T= (n.*370T=)
c.4804T= (p.Cys1602=)
n.5135+541T=
n.4993T=
n.4542+14571T=
2g.227007477A>CCA351140182COL4A4c.523T>G (p.Cys175Gly)
c.4921T>G (p.Cys1641Gly)
c.4366T>G (p.Cys1456Gly)
c.4732T>G (p.Cys1578Gly)
c.4809+541T>G (n.4809+541T>G)
c.4216+14571T>G (n.4216+14571T>G)
c.4840T>G (p.Cys1614Gly)
c.4813T>G (p.Cys1605Gly)
c.*683T>G (n.*683T>G)
c.3247T>G (p.Cys1083Gly)
n.5119+541T>G
n.4526+14571T>G
c.*370T>G (n.*370T>G)
c.4804T>G (p.Cys1602Gly)
n.5135+541T>G
n.4993T>G
n.4542+14571T>G
2g.227007477A>GCA351140183COL4A4c.523T>C (p.Cys175Arg)
c.4921T>C (p.Cys1641Arg)
c.4366T>C (p.Cys1456Arg)
c.4732T>C (p.Cys1578Arg)
c.4809+541T>C (n.4809+541T>C)
c.4216+14571T>C (n.4216+14571T>C)
c.4840T>C (p.Cys1614Arg)
c.4813T>C (p.Cys1605Arg)
c.*683T>C (n.*683T>C)
c.3247T>C (p.Cys1083Arg)
n.5119+541T>C
n.4526+14571T>C
c.*370T>C (n.*370T>C)
c.4804T>C (p.Cys1602Arg)
n.5135+541T>C
n.4993T>C
n.4542+14571T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227007477A>TCA351140184COL4A4c.523T>A (p.Cys175Ser)
c.4921T>A (p.Cys1641Ser)
c.4366T>A (p.Cys1456Ser)
c.4732T>A (p.Cys1578Ser)
c.4809+541T>A (n.4809+541T>A)
c.4216+14571T>A (n.4216+14571T>A)
c.4840T>A (p.Cys1614Ser)
c.4813T>A (p.Cys1605Ser)
c.*683T>A (n.*683T>A)
c.3247T>A (p.Cys1083Ser)
n.5119+541T>A
n.4526+14571T>A
c.*370T>A (n.*370T>A)
c.4804T>A (p.Cys1602Ser)
n.5135+541T>A
n.4993T>A
n.4542+14571T>A
2g.227007478A>CCA431671851COL4A4c.522T>G (p.Thr174=)
c.4920T>G (p.Thr1640=)
c.4365T>G (p.Thr1455=)
c.4731T>G (p.Thr1577=)
c.4809+540T>G (n.4809+540T>G)
c.4216+14570T>G (n.4216+14570T>G)
c.4839T>G (p.Thr1613=)
c.4812T>G (p.Thr1604=)
c.*682T>G (n.*682T>G)
c.3246T>G (p.Thr1082=)
n.5119+540T>G
n.4526+14570T>G
c.*369T>G (n.*369T>G)
c.4803T>G (p.Thr1601=)
n.5135+540T>G
n.4992T>G
n.4542+14570T>G
2g.227007478A>GCA431671852COL4A4c.522T>C (p.Thr174=)
c.4920T>C (p.Thr1640=)
c.4365T>C (p.Thr1455=)
c.4731T>C (p.Thr1577=)
c.4809+540T>C (n.4809+540T>C)
c.4216+14570T>C (n.4216+14570T>C)
c.4839T>C (p.Thr1613=)
c.4812T>C (p.Thr1604=)
c.*682T>C (n.*682T>C)
c.3246T>C (p.Thr1082=)
n.5119+540T>C
n.4526+14570T>C
c.*369T>C (n.*369T>C)
c.4803T>C (p.Thr1601=)
n.5135+540T>C
n.4992T>C
n.4542+14570T>C
 ClinVar dbSNP
2g.227007478A>TCA431671853COL4A4c.522T>A (p.Thr174=)
c.4920T>A (p.Thr1640=)
c.4365T>A (p.Thr1455=)
c.4731T>A (p.Thr1577=)
c.4809+540T>A (n.4809+540T>A)
c.4216+14570T>A (n.4216+14570T>A)
c.4839T>A (p.Thr1613=)
c.4812T>A (p.Thr1604=)
c.*682T>A (n.*682T>A)
c.3246T>A (p.Thr1082=)
n.5119+540T>A
n.4526+14570T>A
c.*369T>A (n.*369T>A)
c.4803T>A (p.Thr1601=)
n.5135+540T>A
n.4992T>A
n.4542+14570T>A
2g.227007479G>ACA351140185COL4A4c.521C>T (p.Thr174Ile)
c.4919C>T (p.Thr1640Ile)
c.4364C>T (p.Thr1455Ile)
c.4730C>T (p.Thr1577Ile)
c.4809+539C>T (n.4809+539C>T)
c.4216+14569C>T (n.4216+14569C>T)
c.4838C>T (p.Thr1613Ile)
c.4811C>T (p.Thr1604Ile)
c.*681C>T (n.*681C>T)
c.3245C>T (p.Thr1082Ile)
n.5119+539C>T
n.4526+14569C>T
c.*368C>T (n.*368C>T)
c.4802C>T (p.Thr1601Ile)
n.5135+539C>T
n.4991C>T
n.4542+14569C>T
2g.227007479G>CCA351140186COL4A4c.521C>G (p.Thr174Ser)
c.4919C>G (p.Thr1640Ser)
c.4364C>G (p.Thr1455Ser)
c.4730C>G (p.Thr1577Ser)
c.4809+539C>G (n.4809+539C>G)
c.4216+14569C>G (n.4216+14569C>G)
c.4838C>G (p.Thr1613Ser)
c.4811C>G (p.Thr1604Ser)
c.*681C>G (n.*681C>G)
c.3245C>G (p.Thr1082Ser)
n.5119+539C>G
n.4526+14569C>G
c.*368C>G (n.*368C>G)
c.4802C>G (p.Thr1601Ser)
n.5135+539C>G
n.4991C>G
n.4542+14569C>G
2g.227007479G>TCA351140187COL4A4c.521C>A (p.Thr174Asn)
c.4919C>A (p.Thr1640Asn)
c.4364C>A (p.Thr1455Asn)
c.4730C>A (p.Thr1577Asn)
c.4809+539C>A (n.4809+539C>A)
c.4216+14569C>A (n.4216+14569C>A)
c.4838C>A (p.Thr1613Asn)
c.4811C>A (p.Thr1604Asn)
c.*681C>A (n.*681C>A)
c.3245C>A (p.Thr1082Asn)
n.5119+539C>A
n.4526+14569C>A
c.*368C>A (n.*368C>A)
c.4802C>A (p.Thr1601Asn)
n.5135+539C>A
n.4991C>A
n.4542+14569C>A
2g.227007480T>ACA351140188COL4A4c.520A>T (p.Thr174Ser)
c.4918A>T (p.Thr1640Ser)
c.4363A>T (p.Thr1455Ser)
c.4729A>T (p.Thr1577Ser)
c.4809+538A>T (n.4809+538A>T)
c.4216+14568A>T (n.4216+14568A>T)
c.4837A>T (p.Thr1613Ser)
c.4810A>T (p.Thr1604Ser)
c.*680A>T (n.*680A>T)
c.3244A>T (p.Thr1082Ser)
n.5119+538A>T
n.4526+14568A>T
c.*367A>T (n.*367A>T)
c.4801A>T (p.Thr1601Ser)
n.5135+538A>T
n.4990A>T
n.4542+14568A>T
2g.227007480T>CCA351140190COL4A4c.520A>G (p.Thr174Ala)
c.4918A>G (p.Thr1640Ala)
c.4363A>G (p.Thr1455Ala)
c.4729A>G (p.Thr1577Ala)
c.4809+538A>G (n.4809+538A>G)
c.4216+14568A>G (n.4216+14568A>G)
c.4837A>G (p.Thr1613Ala)
c.4810A>G (p.Thr1604Ala)
c.*680A>G (n.*680A>G)
c.3244A>G (p.Thr1082Ala)
n.5119+538A>G
n.4526+14568A>G
c.*367A>G (n.*367A>G)
c.4801A>G (p.Thr1601Ala)
n.5135+538A>G
n.4990A>G
n.4542+14568A>G
2g.227007480T>GCA351140189COL4A4c.520A>C (p.Thr174Pro)
c.4918A>C (p.Thr1640Pro)
c.4363A>C (p.Thr1455Pro)
c.4729A>C (p.Thr1577Pro)
c.4809+538A>C (n.4809+538A>C)
c.4216+14568A>C (n.4216+14568A>C)
c.4837A>C (p.Thr1613Pro)
c.4810A>C (p.Thr1604Pro)
c.*680A>C (n.*680A>C)
c.3244A>C (p.Thr1082Pro)
n.5119+538A>C
n.4526+14568A>C
c.*367A>C (n.*367A>C)
c.4801A>C (p.Thr1601Pro)
n.5135+538A>C
n.4990A>C
n.4542+14568A>C
2g.227007481T>ACA431671854COL4A4c.519A>T (p.Gly173=)
c.4917A>T (p.Gly1639=)
c.4362A>T (p.Gly1454=)
c.4728A>T (p.Gly1576=)
c.4809+537A>T (n.4809+537A>T)
c.4216+14567A>T (n.4216+14567A>T)
c.4836A>T (p.Gly1612=)
c.4809A>T (p.Gly1603=)
c.*679A>T (n.*679A>T)
c.3243A>T (p.Gly1081=)
n.5119+537A>T
n.4526+14567A>T
c.*366A>T (n.*366A>T)
c.4800A>T (p.Gly1600=)
n.5135+537A>T
n.4989A>T
n.4542+14567A>T
2g.227007481T>CCA431671855COL4A4c.519A>G (p.Gly173=)
c.4917A>G (p.Gly1639=)
c.4362A>G (p.Gly1454=)
c.4728A>G (p.Gly1576=)
c.4809+537A>G (n.4809+537A>G)
c.4216+14567A>G (n.4216+14567A>G)
c.4836A>G (p.Gly1612=)
c.4809A>G (p.Gly1603=)
c.*679A>G (n.*679A>G)
c.3243A>G (p.Gly1081=)
n.5119+537A>G
n.4526+14567A>G
c.*366A>G (n.*366A>G)
c.4800A>G (p.Gly1600=)
n.5135+537A>G
n.4989A>G
n.4542+14567A>G
2g.227007481T>GCA431671856COL4A4c.519A>C (p.Gly173=)
c.4917A>C (p.Gly1639=)
c.4362A>C (p.Gly1454=)
c.4728A>C (p.Gly1576=)
c.4809+537A>C (n.4809+537A>C)
c.4216+14567A>C (n.4216+14567A>C)
c.4836A>C (p.Gly1612=)
c.4809A>C (p.Gly1603=)
c.*679A>C (n.*679A>C)
c.3243A>C (p.Gly1081=)
n.5119+537A>C
n.4526+14567A>C
c.*366A>C (n.*366A>C)
c.4800A>C (p.Gly1600=)
n.5135+537A>C
n.4989A>C
n.4542+14567A>C
2g.227007481_227007482delinsTCCA1332723612COL4A4c.518_519delinsGA (p.Gly173=)
c.4916_4917delinsGA (p.Gly1639=)
c.4361_4362delinsGA (p.Gly1454=)
c.4727_4728delinsGA (p.Gly1576=)
c.4809+536_4809+537delinsGA (n.4809+536_4809+537delinsGA)
c.4216+14566_4216+14567delinsGA (n.4216+14566_4216+14567delinsGA)
c.4835_4836delinsGA (p.Gly1612=)
c.4808_4809delinsGA (p.Gly1603=)
c.*678_*679delinsGA (n.*678_*679delinsGA)
c.3242_3243delinsGA (p.Gly1081=)
n.5119+536_5119+537delinsGA
n.4526+14566_4526+14567delinsGA
c.*365_*366delinsGA (n.*365_*366delinsGA)
c.4799_4800delinsGA (p.Gly1600=)
n.5135+536_5135+537delinsGA
n.4988_4989delinsGA
n.4542+14566_4542+14567delinsGA
2g.227007482C>ACA351140191COL4A4c.518G>T (p.Gly173Val)
c.4916G>T (p.Gly1639Val)
c.4361G>T (p.Gly1454Val)
c.4727G>T (p.Gly1576Val)
c.4809+536G>T (n.4809+536G>T)
c.4216+14566G>T (n.4216+14566G>T)
c.4835G>T (p.Gly1612Val)
c.4808G>T (p.Gly1603Val)
c.*678G>T (n.*678G>T)
c.3242G>T (p.Gly1081Val)
n.5119+536G>T
n.4526+14566G>T
c.*365G>T (n.*365G>T)
c.4799G>T (p.Gly1600Val)
n.5135+536G>T
n.4988G>T
n.4542+14566G>T
2g.227007482C>GCA351140192COL4A4c.518G>C (p.Gly173Ala)
c.4916G>C (p.Gly1639Ala)
c.4361G>C (p.Gly1454Ala)
c.4727G>C (p.Gly1576Ala)
c.4809+536G>C (n.4809+536G>C)
c.4216+14566G>C (n.4216+14566G>C)
c.4835G>C (p.Gly1612Ala)
c.4808G>C (p.Gly1603Ala)
c.*678G>C (n.*678G>C)
c.3242G>C (p.Gly1081Ala)
n.5119+536G>C
n.4526+14566G>C
c.*365G>C (n.*365G>C)
c.4799G>C (p.Gly1600Ala)
n.5135+536G>C
n.4988G>C
n.4542+14566G>C
2g.227007482C>TCA351140193COL4A4c.518G>A (p.Gly173Glu)
c.4916G>A (p.Gly1639Glu)
c.4361G>A (p.Gly1454Glu)
c.4727G>A (p.Gly1576Glu)
c.4809+536G>A (n.4809+536G>A)
c.4216+14566G>A (n.4216+14566G>A)
c.4835G>A (p.Gly1612Glu)
c.4808G>A (p.Gly1603Glu)
c.*678G>A (n.*678G>A)
c.3242G>A (p.Gly1081Glu)
n.5119+536G>A
n.4526+14566G>A
c.*365G>A (n.*365G>A)
c.4799G>A (p.Gly1600Glu)
n.5135+536G>A
n.4988G>A
n.4542+14566G>A
 ClinVar gnomAD v4
2g.227007484delCA540312174COL4A4c.518del (p.Gly173GlufsTer17)
c.4916del (p.Gly1639GlufsTer17)
c.4361del (p.Gly1454GlufsTer17)
c.4727del (p.Gly1576GlufsTer17)
c.4809+536del (n.4809+536del)
c.4216+14566del (n.4216+14566del)
c.4835del (p.Gly1612GlufsTer17)
c.4808del (p.Gly1603GlufsTer17)
c.*678del (n.*678del)
c.3242del (p.Gly1081GlufsTer17)
n.5119+536del
n.4526+14566del
c.*365del (n.*365del)
c.4799del (p.Gly1600GlufsTer17)
n.5135+536del
n.4988del
n.4542+14566del
 dbSNP gnomAD v2 gnomAD v4
2g.227007483C>ACA351140194COL4A4c.517G>T (p.Gly173Ter)
c.4915G>T (p.Gly1639Ter)
c.4360G>T (p.Gly1454Ter)
c.4726G>T (p.Gly1576Ter)
c.4809+535G>T (n.4809+535G>T)
c.4216+14565G>T (n.4216+14565G>T)
c.4834G>T (p.Gly1612Ter)
c.4807G>T (p.Gly1603Ter)
c.*677G>T (n.*677G>T)
c.3241G>T (p.Gly1081Ter)
n.5119+535G>T
n.4526+14565G>T
c.*364G>T (n.*364G>T)
c.4798G>T (p.Gly1600Ter)
n.5135+535G>T
n.4987G>T
n.4542+14565G>T
2g.227007483C=CA1332723613COL4A4c.517G= (p.Gly173=)
c.4915G= (p.Gly1639=)
c.4360G= (p.Gly1454=)
c.4726G= (p.Gly1576=)
c.4809+535G= (n.4809+535G=)
c.4216+14565G= (n.4216+14565G=)
c.4834G= (p.Gly1612=)
c.4807G= (p.Gly1603=)
c.*677G= (n.*677G=)
c.3241G= (p.Gly1081=)
n.5119+535G=
n.4526+14565G=
c.*364G= (n.*364G=)
c.4798G= (p.Gly1600=)
n.5135+535G=
n.4987G=
n.4542+14565G=
2g.227007483C>GCA2144020COL4A4c.517G>C (p.Gly173Arg)
c.4915G>C (p.Gly1639Arg)
c.4360G>C (p.Gly1454Arg)
c.4726G>C (p.Gly1576Arg)
c.4809+535G>C (n.4809+535G>C)
c.4216+14565G>C (n.4216+14565G>C)
c.4834G>C (p.Gly1612Arg)
c.4807G>C (p.Gly1603Arg)
c.*677G>C (n.*677G>C)
c.3241G>C (p.Gly1081Arg)
n.5119+535G>C
n.4526+14565G>C
c.*364G>C (n.*364G>C)
c.4798G>C (p.Gly1600Arg)
n.5135+535G>C
n.4987G>C
n.4542+14565G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007483C>TCA351140195COL4A4c.517G>A (p.Gly173Arg)
c.4915G>A (p.Gly1639Arg)
c.4360G>A (p.Gly1454Arg)
c.4726G>A (p.Gly1576Arg)
c.4809+535G>A (n.4809+535G>A)
c.4216+14565G>A (n.4216+14565G>A)
c.4834G>A (p.Gly1612Arg)
c.4807G>A (p.Gly1603Arg)
c.*677G>A (n.*677G>A)
c.3241G>A (p.Gly1081Arg)
n.5119+535G>A
n.4526+14565G>A
c.*364G>A (n.*364G>A)
c.4798G>A (p.Gly1600Arg)
n.5135+535G>A
n.4987G>A
n.4542+14565G>A
2g.227007484C>ACA351140196COL4A4c.516G>T (p.Gln172His)
c.4914G>T (p.Gln1638His)
c.4359G>T (p.Gln1453His)
c.4725G>T (p.Gln1575His)
c.4809+534G>T (n.4809+534G>T)
c.4216+14564G>T (n.4216+14564G>T)
c.4833G>T (p.Gln1611His)
c.4806G>T (p.Gln1602His)
c.*676G>T (n.*676G>T)
c.3240G>T (p.Gln1080His)
n.5119+534G>T
n.4526+14564G>T
c.*363G>T (n.*363G>T)
c.4797G>T (p.Gln1599His)
n.5135+534G>T
n.4986G>T
n.4542+14564G>T
2g.227007484C=CA1332723614COL4A4c.516G= (p.Gln172=)
c.4914G= (p.Gln1638=)
c.4359G= (p.Gln1453=)
c.4725G= (p.Gln1575=)
c.4809+534G= (n.4809+534G=)
c.4216+14564G= (n.4216+14564G=)
c.4833G= (p.Gln1611=)
c.4806G= (p.Gln1602=)
c.*676G= (n.*676G=)
c.3240G= (p.Gln1080=)
n.5119+534G=
n.4526+14564G=
c.*363G= (n.*363G=)
c.4797G= (p.Gln1599=)
n.5135+534G=
n.4986G=
n.4542+14564G=
2g.227007484C>GCA351140197COL4A4c.516G>C (p.Gln172His)
c.4914G>C (p.Gln1638His)
c.4359G>C (p.Gln1453His)
c.4725G>C (p.Gln1575His)
c.4809+534G>C (n.4809+534G>C)
c.4216+14564G>C (n.4216+14564G>C)
c.4833G>C (p.Gln1611His)
c.4806G>C (p.Gln1602His)
c.*676G>C (n.*676G>C)
c.3240G>C (p.Gln1080His)
n.5119+534G>C
n.4526+14564G>C
c.*363G>C (n.*363G>C)
c.4797G>C (p.Gln1599His)
n.5135+534G>C
n.4986G>C
n.4542+14564G>C
2g.227007484C>TCA431671857COL4A4c.516G>A (p.Gln172=)
c.4914G>A (p.Gln1638=)
c.4359G>A (p.Gln1453=)
c.4725G>A (p.Gln1575=)
c.4809+534G>A (n.4809+534G>A)
c.4216+14564G>A (n.4216+14564G>A)
c.4833G>A (p.Gln1611=)
c.4806G>A (p.Gln1602=)
c.*676G>A (n.*676G>A)
c.3240G>A (p.Gln1080=)
n.5119+534G>A
n.4526+14564G>A
c.*363G>A (n.*363G>A)
c.4797G>A (p.Gln1599=)
n.5135+534G>A
n.4986G>A
n.4542+14564G>A
 ClinVar dbSNP
2g.227007485T>ACA351140198COL4A4c.515A>T (p.Gln172Leu)
c.4913A>T (p.Gln1638Leu)
c.4358A>T (p.Gln1453Leu)
c.4724A>T (p.Gln1575Leu)
c.4809+533A>T (n.4809+533A>T)
c.4216+14563A>T (n.4216+14563A>T)
c.4832A>T (p.Gln1611Leu)
c.4805A>T (p.Gln1602Leu)
c.*675A>T (n.*675A>T)
c.3239A>T (p.Gln1080Leu)
n.5119+533A>T
n.4526+14563A>T
c.*362A>T (n.*362A>T)
c.4796A>T (p.Gln1599Leu)
n.5135+533A>T
n.4985A>T
n.4542+14563A>T
2g.227007485T>CCA351140199COL4A4c.515A>G (p.Gln172Arg)
c.4913A>G (p.Gln1638Arg)
c.4358A>G (p.Gln1453Arg)
c.4724A>G (p.Gln1575Arg)
c.4809+533A>G (n.4809+533A>G)
c.4216+14563A>G (n.4216+14563A>G)
c.4832A>G (p.Gln1611Arg)
c.4805A>G (p.Gln1602Arg)
c.*675A>G (n.*675A>G)
c.3239A>G (p.Gln1080Arg)
n.5119+533A>G
n.4526+14563A>G
c.*362A>G (n.*362A>G)
c.4796A>G (p.Gln1599Arg)
n.5135+533A>G
n.4985A>G
n.4542+14563A>G
2g.227007485T>GCA351140200COL4A4c.515A>C (p.Gln172Pro)
c.4913A>C (p.Gln1638Pro)
c.4358A>C (p.Gln1453Pro)
c.4724A>C (p.Gln1575Pro)
c.4809+533A>C (n.4809+533A>C)
c.4216+14563A>C (n.4216+14563A>C)
c.4832A>C (p.Gln1611Pro)
c.4805A>C (p.Gln1602Pro)
c.*675A>C (n.*675A>C)
c.3239A>C (p.Gln1080Pro)
n.5119+533A>C
n.4526+14563A>C
c.*362A>C (n.*362A>C)
c.4796A>C (p.Gln1599Pro)
n.5135+533A>C
n.4985A>C
n.4542+14563A>C
 dbSNP
2g.227007485T=CA1332723615COL4A4c.515A= (p.Gln172=)
c.4913A= (p.Gln1638=)
c.4358A= (p.Gln1453=)
c.4724A= (p.Gln1575=)
c.4809+533A= (n.4809+533A=)
c.4216+14563A= (n.4216+14563A=)
c.4832A= (p.Gln1611=)
c.4805A= (p.Gln1602=)
c.*675A= (n.*675A=)
c.3239A= (p.Gln1080=)
n.5119+533A=
n.4526+14563A=
c.*362A= (n.*362A=)
c.4796A= (p.Gln1599=)
n.5135+533A=
n.4985A=
n.4542+14563A=
2g.227007486G>ACA351140202COL4A4c.514C>T (p.Gln172Ter)
c.4912C>T (p.Gln1638Ter)
c.4357C>T (p.Gln1453Ter)
c.4723C>T (p.Gln1575Ter)
c.4809+532C>T (n.4809+532C>T)
c.4216+14562C>T (n.4216+14562C>T)
c.4831C>T (p.Gln1611Ter)
c.4804C>T (p.Gln1602Ter)
c.*674C>T (n.*674C>T)
c.3238C>T (p.Gln1080Ter)
n.5119+532C>T
n.4526+14562C>T
c.*361C>T (n.*361C>T)
c.4795C>T (p.Gln1599Ter)
n.5135+532C>T
n.4984C>T
n.4542+14562C>T
2g.227007486G>CCA2144021COL4A4c.514C>G (p.Gln172Glu)
c.4912C>G (p.Gln1638Glu)
c.4357C>G (p.Gln1453Glu)
c.4723C>G (p.Gln1575Glu)
c.4809+532C>G (n.4809+532C>G)
c.4216+14562C>G (n.4216+14562C>G)
c.4831C>G (p.Gln1611Glu)
c.4804C>G (p.Gln1602Glu)
c.*674C>G (n.*674C>G)
c.3238C>G (p.Gln1080Glu)
n.5119+532C>G
n.4526+14562C>G
c.*361C>G (n.*361C>G)
c.4795C>G (p.Gln1599Glu)
n.5135+532C>G
n.4984C>G
n.4542+14562C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007486G=CA1332723616COL4A4c.514C= (p.Gln172=)
c.4912C= (p.Gln1638=)
c.4357C= (p.Gln1453=)
c.4723C= (p.Gln1575=)
c.4809+532C= (n.4809+532C=)
c.4216+14562C= (n.4216+14562C=)
c.4831C= (p.Gln1611=)
c.4804C= (p.Gln1602=)
c.*674C= (n.*674C=)
c.3238C= (p.Gln1080=)
n.5119+532C=
n.4526+14562C=
c.*361C= (n.*361C=)
c.4795C= (p.Gln1599=)
n.5135+532C=
n.4984C=
n.4542+14562C=
2g.227007486G>TCA351140201COL4A4c.514C>A (p.Gln172Lys)
c.4912C>A (p.Gln1638Lys)
c.4357C>A (p.Gln1453Lys)
c.4723C>A (p.Gln1575Lys)
c.4809+532C>A (n.4809+532C>A)
c.4216+14562C>A (n.4216+14562C>A)
c.4831C>A (p.Gln1611Lys)
c.4804C>A (p.Gln1602Lys)
c.*674C>A (n.*674C>A)
c.3238C>A (p.Gln1080Lys)
n.5119+532C>A
n.4526+14562C>A
c.*361C>A (n.*361C>A)
c.4795C>A (p.Gln1599Lys)
n.5135+532C>A
n.4984C>A
n.4542+14562C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched