Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.227007487C>ACA431671860COL4A4c.513G>T (p.Arg171=)
c.4911G>T (p.Arg1637=)
c.4356G>T (p.Arg1452=)
c.4722G>T (p.Arg1574=)
c.4809+531G>T (n.4809+531G>T)
c.4216+14561G>T (n.4216+14561G>T)
c.4830G>T (p.Arg1610=)
c.4803G>T (p.Arg1601=)
c.*673G>T (n.*673G>T)
c.3237G>T (p.Arg1079=)
n.5119+531G>T
n.4526+14561G>T
c.*360G>T (n.*360G>T)
c.4794G>T (p.Arg1598=)
n.5135+531G>T
n.4983G>T
n.4542+14561G>T
2g.227007487C>GCA431671859COL4A4c.513G>C (p.Arg171=)
c.4911G>C (p.Arg1637=)
c.4356G>C (p.Arg1452=)
c.4722G>C (p.Arg1574=)
c.4809+531G>C (n.4809+531G>C)
c.4216+14561G>C (n.4216+14561G>C)
c.4830G>C (p.Arg1610=)
c.4803G>C (p.Arg1601=)
c.*673G>C (n.*673G>C)
c.3237G>C (p.Arg1079=)
n.5119+531G>C
n.4526+14561G>C
c.*360G>C (n.*360G>C)
c.4794G>C (p.Arg1598=)
n.5135+531G>C
n.4983G>C
n.4542+14561G>C
2g.227007487C>TCA431671858COL4A4c.513G>A (p.Arg171=)
c.4911G>A (p.Arg1637=)
c.4356G>A (p.Arg1452=)
c.4722G>A (p.Arg1574=)
c.4809+531G>A (n.4809+531G>A)
c.4216+14561G>A (n.4216+14561G>A)
c.4830G>A (p.Arg1610=)
c.4803G>A (p.Arg1601=)
c.*673G>A (n.*673G>A)
c.3237G>A (p.Arg1079=)
n.5119+531G>A
n.4526+14561G>A
c.*360G>A (n.*360G>A)
c.4794G>A (p.Arg1598=)
n.5135+531G>A
n.4983G>A
n.4542+14561G>A
 gnomAD v4
2g.227007488C>ACA67238240COL4A4c.512G>T (p.Arg171Leu)
c.4910G>T (p.Arg1637Leu)
c.4355G>T (p.Arg1452Leu)
c.4721G>T (p.Arg1574Leu)
c.4809+530G>T (n.4809+530G>T)
c.4216+14560G>T (n.4216+14560G>T)
c.4829G>T (p.Arg1610Leu)
c.4802G>T (p.Arg1601Leu)
c.*672G>T (n.*672G>T)
c.3236G>T (p.Arg1079Leu)
n.5119+530G>T
n.4526+14560G>T
c.*359G>T (n.*359G>T)
c.4793G>T (p.Arg1598Leu)
n.5135+530G>T
n.4982G>T
n.4542+14560G>T
 dbSNP
2g.227007488C=CA1332723617COL4A4c.512G= (p.Arg171=)
c.4910G= (p.Arg1637=)
c.4355G= (p.Arg1452=)
c.4721G= (p.Arg1574=)
c.4809+530G= (n.4809+530G=)
c.4216+14560G= (n.4216+14560G=)
c.4829G= (p.Arg1610=)
c.4802G= (p.Arg1601=)
c.*672G= (n.*672G=)
c.3236G= (p.Arg1079=)
n.5119+530G=
n.4526+14560G=
c.*359G= (n.*359G=)
c.4793G= (p.Arg1598=)
n.5135+530G=
n.4982G=
n.4542+14560G=

Number of alleles fetched