Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227008156C>ACA351140719COL4A4c.273G>T (p.Glu91Asp)
c.4671G>T (p.Glu1557Asp)
c.4116G>T (p.Glu1372Asp)
c.4482G>T (p.Glu1494Asp)
c.4216+13892G>T (n.4216+13892G>T)
c.4590G>T (p.Glu1530Asp)
c.4563G>T (p.Glu1521Asp)
c.*4G>T (n.*4G>T)
c.2997G>T (p.Glu999Asp)
n.4981G>T
n.4526+13892G>T
c.4554G>T (p.Glu1518Asp)
n.4997G>T
n.4743G>T
n.4542+13892G>T
2g.227008156C>GCA351140720COL4A4c.273G>C (p.Glu91Asp)
c.4671G>C (p.Glu1557Asp)
c.4116G>C (p.Glu1372Asp)
c.4482G>C (p.Glu1494Asp)
c.4216+13892G>C (n.4216+13892G>C)
c.4590G>C (p.Glu1530Asp)
c.4563G>C (p.Glu1521Asp)
c.*4G>C (n.*4G>C)
c.2997G>C (p.Glu999Asp)
n.4981G>C
n.4526+13892G>C
c.4554G>C (p.Glu1518Asp)
n.4997G>C
n.4743G>C
n.4542+13892G>C
2g.227008156C>TCA431671900COL4A4c.273G>A (p.Glu91=)
c.4671G>A (p.Glu1557=)
c.4116G>A (p.Glu1372=)
c.4482G>A (p.Glu1494=)
c.4216+13892G>A (n.4216+13892G>A)
c.4590G>A (p.Glu1530=)
c.4563G>A (p.Glu1521=)
c.*4G>A (n.*4G>A)
c.2997G>A (p.Glu999=)
n.4981G>A
n.4526+13892G>A
c.4554G>A (p.Glu1518=)
n.4997G>A
n.4743G>A
n.4542+13892G>A
 ClinVar
2g.227008157T>ACA351140721COL4A4c.272A>T (p.Glu91Val)
c.4670A>T (p.Glu1557Val)
c.4115A>T (p.Glu1372Val)
c.4481A>T (p.Glu1494Val)
c.4216+13891A>T (n.4216+13891A>T)
c.4589A>T (p.Glu1530Val)
c.4562A>T (p.Glu1521Val)
c.*3A>T (n.*3A>T)
c.2996A>T (p.Glu999Val)
n.4980A>T
n.4526+13891A>T
c.4553A>T (p.Glu1518Val)
n.4996A>T
n.4742A>T
n.4542+13891A>T
2g.227008157T>CCA351140722COL4A4c.272A>G (p.Glu91Gly)
c.4670A>G (p.Glu1557Gly)
c.4115A>G (p.Glu1372Gly)
c.4481A>G (p.Glu1494Gly)
c.4216+13891A>G (n.4216+13891A>G)
c.4589A>G (p.Glu1530Gly)
c.4562A>G (p.Glu1521Gly)
c.*3A>G (n.*3A>G)
c.2996A>G (p.Glu999Gly)
n.4980A>G
n.4526+13891A>G
c.4553A>G (p.Glu1518Gly)
n.4996A>G
n.4742A>G
n.4542+13891A>G
 gnomAD v4
2g.227008157T>GCA351140723COL4A4c.272A>C (p.Glu91Ala)
c.4670A>C (p.Glu1557Ala)
c.4115A>C (p.Glu1372Ala)
c.4481A>C (p.Glu1494Ala)
c.4216+13891A>C (n.4216+13891A>C)
c.4589A>C (p.Glu1530Ala)
c.4562A>C (p.Glu1521Ala)
c.*3A>C (n.*3A>C)
c.2996A>C (p.Glu999Ala)
n.4980A>C
n.4526+13891A>C
c.4553A>C (p.Glu1518Ala)
n.4996A>C
n.4742A>C
n.4542+13891A>C
2g.227008158C>ACA351140724COL4A4c.271G>T (p.Glu91Ter)
c.4669G>T (p.Glu1557Ter)
c.4114G>T (p.Glu1372Ter)
c.4480G>T (p.Glu1494Ter)
c.4216+13890G>T (n.4216+13890G>T)
c.4588G>T (p.Glu1530Ter)
c.4561G>T (p.Glu1521Ter)
c.*2G>T (n.*2G>T)
c.2995G>T (p.Glu999Ter)
n.4979G>T
n.4526+13890G>T
c.4552G>T (p.Glu1518Ter)
n.4995G>T
n.4741G>T
n.4542+13890G>T
 gnomAD v4
2g.227008158C>GCA351140725COL4A4c.271G>C (p.Glu91Gln)
c.4669G>C (p.Glu1557Gln)
c.4114G>C (p.Glu1372Gln)
c.4480G>C (p.Glu1494Gln)
c.4216+13890G>C (n.4216+13890G>C)
c.4588G>C (p.Glu1530Gln)
c.4561G>C (p.Glu1521Gln)
c.*2G>C (n.*2G>C)
c.2995G>C (p.Glu999Gln)
n.4979G>C
n.4526+13890G>C
c.4552G>C (p.Glu1518Gln)
n.4995G>C
n.4741G>C
n.4542+13890G>C
 gnomAD v4
2g.227008158C>TCA351140726COL4A4c.271G>A (p.Glu91Lys)
c.4669G>A (p.Glu1557Lys)
c.4114G>A (p.Glu1372Lys)
c.4480G>A (p.Glu1494Lys)
c.4216+13890G>A (n.4216+13890G>A)
c.4588G>A (p.Glu1530Lys)
c.4561G>A (p.Glu1521Lys)
c.*2G>A (n.*2G>A)
c.2995G>A (p.Glu999Lys)
n.4979G>A
n.4526+13890G>A
c.4552G>A (p.Glu1518Lys)
n.4995G>A
n.4741G>A
n.4542+13890G>A
 COSMIC
2g.227008159T>ACA351140727COL4A4c.270A>T (p.Glu90Asp)
c.4668A>T (p.Glu1556Asp)
c.4113A>T (p.Glu1371Asp)
c.4479A>T (p.Glu1493Asp)
c.4216+13889A>T (n.4216+13889A>T)
c.4587A>T (p.Glu1529Asp)
c.4560A>T (p.Glu1520Asp)
c.*1A>T (n.*1A>T)
c.2994A>T (p.Glu998Asp)
n.4978A>T
n.4526+13889A>T
c.4551A>T (p.Glu1517Asp)
n.4994A>T
n.4740A>T
n.4542+13889A>T
2g.227008159T>CCA2144101COL4A4c.270A>G (p.Glu90=)
c.4668A>G (p.Glu1556=)
c.4113A>G (p.Glu1371=)
c.4479A>G (p.Glu1493=)
c.4216+13889A>G (n.4216+13889A>G)
c.4587A>G (p.Glu1529=)
c.4560A>G (p.Glu1520=)
c.*1A>G (n.*1A>G)
c.2994A>G (p.Glu998=)
n.4978A>G
n.4526+13889A>G
c.4551A>G (p.Glu1517=)
n.4994A>G
n.4740A>G
n.4542+13889A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008159T>GCA351140728COL4A4c.270A>C (p.Glu90Asp)
c.4668A>C (p.Glu1556Asp)
c.4113A>C (p.Glu1371Asp)
c.4479A>C (p.Glu1493Asp)
c.4216+13889A>C (n.4216+13889A>C)
c.4587A>C (p.Glu1529Asp)
c.4560A>C (p.Glu1520Asp)
c.*1A>C (n.*1A>C)
c.2994A>C (p.Glu998Asp)
n.4978A>C
n.4526+13889A>C
c.4551A>C (p.Glu1517Asp)
n.4994A>C
n.4740A>C
n.4542+13889A>C
2g.227008159T=CA1332723938COL4A4c.270A= (p.Glu90=)
c.4668A= (p.Glu1556=)
c.4113A= (p.Glu1371=)
c.4479A= (p.Glu1493=)
c.4216+13889A= (n.4216+13889A=)
c.4587A= (p.Glu1529=)
c.4560A= (p.Glu1520=)
c.*1A= (n.*1A=)
c.2994A= (p.Glu998=)
n.4978A=
n.4526+13889A=
c.4551A= (p.Glu1517=)
n.4994A=
n.4740A=
n.4542+13889A=
2g.227008160T>ACA351140729COL4A4c.269A>T (p.Glu90Val)
c.4667A>T (p.Glu1556Val)
c.4112A>T (p.Glu1371Val)
c.4478A>T (p.Glu1493Val)
c.4216+13888A>T (n.4216+13888A>T)
c.4586A>T (p.Glu1529Val)
c.4559A>T (p.Glu1520Val)
c.4413A>T (p.Ter1471Cys)
c.4296A>T (p.Ter1432Cys)
c.2993A>T (p.Glu998Val)
n.4977A>T
n.4526+13888A>T
c.4550A>T (p.Glu1517Val)
n.4993A>T
n.4739A>T
n.4542+13888A>T
2g.227008160T>CCA351140730COL4A4c.269A>G (p.Glu90Gly)
c.4667A>G (p.Glu1556Gly)
c.4112A>G (p.Glu1371Gly)
c.4478A>G (p.Glu1493Gly)
c.4216+13888A>G (n.4216+13888A>G)
c.4586A>G (p.Glu1529Gly)
c.4559A>G (p.Glu1520Gly)
c.4413A>G (p.Ter1471Trp)
c.4296A>G (p.Ter1432Trp)
c.2993A>G (p.Glu998Gly)
n.4977A>G
n.4526+13888A>G
c.4550A>G (p.Glu1517Gly)
n.4993A>G
n.4739A>G
n.4542+13888A>G
2g.227008160T>GCA351140731COL4A4c.269A>C (p.Glu90Ala)
c.4667A>C (p.Glu1556Ala)
c.4112A>C (p.Glu1371Ala)
c.4478A>C (p.Glu1493Ala)
c.4216+13888A>C (n.4216+13888A>C)
c.4586A>C (p.Glu1529Ala)
c.4559A>C (p.Glu1520Ala)
c.4413A>C (p.Ter1471Cys)
c.4296A>C (p.Ter1432Cys)
c.2993A>C (p.Glu998Ala)
n.4977A>C
n.4526+13888A>C
c.4550A>C (p.Glu1517Ala)
n.4993A>C
n.4739A>C
n.4542+13888A>C
2g.227008161C>ACA351140732COL4A4c.268G>T (p.Glu90Ter)
c.4666G>T (p.Glu1556Ter)
c.4111G>T (p.Glu1371Ter)
c.4477G>T (p.Glu1493Ter)
c.4216+13887G>T (n.4216+13887G>T)
c.4585G>T (p.Glu1529Ter)
c.4558G>T (p.Glu1520Ter)
c.4412G>T (p.Ter1471Leu)
c.4295G>T (p.Ter1432Leu)
c.2992G>T (p.Glu998Ter)
n.4976G>T
n.4526+13887G>T
c.4549G>T (p.Glu1517Ter)
n.4992G>T
n.4738G>T
n.4542+13887G>T
2g.227008161C>GCA351140734COL4A4c.268G>C (p.Glu90Gln)
c.4666G>C (p.Glu1556Gln)
c.4111G>C (p.Glu1371Gln)
c.4477G>C (p.Glu1493Gln)
c.4216+13887G>C (n.4216+13887G>C)
c.4585G>C (p.Glu1529Gln)
c.4558G>C (p.Glu1520Gln)
c.4412G>C (p.Ter1471Ser)
c.4295G>C (p.Ter1432Ser)
c.2992G>C (p.Glu998Gln)
n.4976G>C
n.4526+13887G>C
c.4549G>C (p.Glu1517Gln)
n.4992G>C
n.4738G>C
n.4542+13887G>C
 gnomAD v4
2g.227008161C>TCA351140733COL4A4c.268G>A (p.Glu90Lys)
c.4666G>A (p.Glu1556Lys)
c.4111G>A (p.Glu1371Lys)
c.4477G>A (p.Glu1493Lys)
c.4216+13887G>A (n.4216+13887G>A)
c.4585G>A (p.Glu1529Lys)
c.4558G>A (p.Glu1520Lys)
c.4412G>A (p.Ter1471=)
c.4295G>A (p.Ter1432=)
c.2992G>A (p.Glu998Lys)
n.4976G>A
n.4526+13887G>A
c.4549G>A (p.Glu1517Lys)
n.4992G>A
n.4738G>A
n.4542+13887G>A
2g.227008161_227008163delinsCAGCA1332723939COL4A4c.266_268delinsCTG (p.Ser89=)
c.4664_4666delinsCTG (p.Ser1555=)
c.4109_4111delinsCTG (p.Ser1370=)
c.4475_4477delinsCTG (p.Ser1492=)
c.4216+13885_4216+13887delinsCTG (n.4216+13885_4216+13887delinsCTG)
c.4583_4585delinsCTG (p.Ser1528=)
c.4556_4558delinsCTG (p.Ser1519=)
c.4410_4412delinsCTG (p.Leu1470=)
c.4293_4295delinsCTG (p.Leu1431=)
c.2990_2992delinsCTG (p.Ser997=)
n.4974_4976delinsCTG
n.4526+13885_4526+13887delinsCTG
c.4547_4549delinsCTG (p.Ser1516=)
n.4990_4992delinsCTG
n.4736_4738delinsCTG
n.4542+13885_4542+13887delinsCTG
2g.227008162A>CCA431671905COL4A4c.267T>G (p.Ser89=)
c.4665T>G (p.Ser1555=)
c.4110T>G (p.Ser1370=)
c.4476T>G (p.Ser1492=)
c.4216+13886T>G (n.4216+13886T>G)
c.4584T>G (p.Ser1528=)
c.4557T>G (p.Ser1519=)
c.4411T>G (p.Ter1471Gly)
c.4294T>G (p.Ter1432Gly)
c.2991T>G (p.Ser997=)
n.4975T>G
n.4526+13886T>G
c.4548T>G (p.Ser1516=)
n.4991T>G
n.4737T>G
n.4542+13886T>G
2g.227008162A>GCA431671906COL4A4c.267T>C (p.Ser89=)
c.4665T>C (p.Ser1555=)
c.4110T>C (p.Ser1370=)
c.4476T>C (p.Ser1492=)
c.4216+13886T>C (n.4216+13886T>C)
c.4584T>C (p.Ser1528=)
c.4557T>C (p.Ser1519=)
c.4411T>C (p.Ter1471Arg)
c.4294T>C (p.Ter1432Arg)
c.2991T>C (p.Ser997=)
n.4975T>C
n.4526+13886T>C
c.4548T>C (p.Ser1516=)
n.4991T>C
n.4737T>C
n.4542+13886T>C
2g.227008162A>TCA431671907COL4A4c.267T>A (p.Ser89=)
c.4665T>A (p.Ser1555=)
c.4110T>A (p.Ser1370=)
c.4476T>A (p.Ser1492=)
c.4216+13886T>A (n.4216+13886T>A)
c.4584T>A (p.Ser1528=)
c.4557T>A (p.Ser1519=)
c.4411T>A (p.Ter1471Arg)
c.4294T>A (p.Ter1432Arg)
c.2991T>A (p.Ser997=)
n.4975T>A
n.4526+13886T>A
c.4548T>A (p.Ser1516=)
n.4991T>A
n.4737T>A
n.4542+13886T>A
2g.227008166_227008167delCA2144102COL4A4c.266_267del (p.Ser89Ter)
c.4664_4665del (p.Ser1555Ter)
c.4109_4110del (p.Ser1370Ter)
c.4475_4476del (p.Ser1492Ter)
c.4216+13885_4216+13886del (n.4216+13885_4216+13886del)
c.4583_4584del (p.Ser1528Ter)
c.4556_4557del (p.Ser1519Ter)
c.4410_4411del (p.Ter1471LysextTer?)
c.4293_4294del (p.Ter1432LysextTer?)
c.2990_2991del (p.Ser997Ter)
n.4974_4975del
n.4526+13885_4526+13886del
c.4547_4548del (p.Ser1516Ter)
n.4990_4991del
n.4736_4737del
n.4542+13885_4542+13886del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008163G>ACA351140735COL4A4c.266C>T (p.Ser89Phe)
c.4664C>T (p.Ser1555Phe)
c.4109C>T (p.Ser1370Phe)
c.4475C>T (p.Ser1492Phe)
c.4216+13885C>T (n.4216+13885C>T)
c.4583C>T (p.Ser1528Phe)
c.4556C>T (p.Ser1519Phe)
c.4410C>T (p.Leu1470=)
c.4293C>T (p.Leu1431=)
c.2990C>T (p.Ser997Phe)
n.4974C>T
n.4526+13885C>T
c.4547C>T (p.Ser1516Phe)
n.4990C>T
n.4736C>T
n.4542+13885C>T
 ClinVar dbSNP
2g.227008163G>CCA351140736COL4A4c.266C>G (p.Ser89Cys)
c.4664C>G (p.Ser1555Cys)
c.4109C>G (p.Ser1370Cys)
c.4475C>G (p.Ser1492Cys)
c.4216+13885C>G (n.4216+13885C>G)
c.4583C>G (p.Ser1528Cys)
c.4556C>G (p.Ser1519Cys)
c.4410C>G (p.Leu1470=)
c.4293C>G (p.Leu1431=)
c.2990C>G (p.Ser997Cys)
n.4974C>G
n.4526+13885C>G
c.4547C>G (p.Ser1516Cys)
n.4990C>G
n.4736C>G
n.4542+13885C>G
2g.227008163G>TCA351140737COL4A4c.266C>A (p.Ser89Tyr)
c.4664C>A (p.Ser1555Tyr)
c.4109C>A (p.Ser1370Tyr)
c.4475C>A (p.Ser1492Tyr)
c.4216+13885C>A (n.4216+13885C>A)
c.4583C>A (p.Ser1528Tyr)
c.4556C>A (p.Ser1519Tyr)
c.4410C>A (p.Leu1470=)
c.4293C>A (p.Leu1431=)
c.2990C>A (p.Ser997Tyr)
n.4974C>A
n.4526+13885C>A
c.4547C>A (p.Ser1516Tyr)
n.4990C>A
n.4736C>A
n.4542+13885C>A
2g.227008164A>CCA351140738COL4A4c.265T>G (p.Ser89Ala)
c.4663T>G (p.Ser1555Ala)
c.4108T>G (p.Ser1370Ala)
c.4474T>G (p.Ser1492Ala)
c.4216+13884T>G (n.4216+13884T>G)
c.4582T>G (p.Ser1528Ala)
c.4555T>G (p.Ser1519Ala)
c.4409T>G (p.Leu1470Arg)
c.4292T>G (p.Leu1431Arg)
c.2989T>G (p.Ser997Ala)
n.4973T>G
n.4526+13884T>G
c.4546T>G (p.Ser1516Ala)
n.4989T>G
n.4735T>G
n.4542+13884T>G
2g.227008164A>GCA351140739COL4A4c.265T>C (p.Ser89Pro)
c.4663T>C (p.Ser1555Pro)
c.4108T>C (p.Ser1370Pro)
c.4474T>C (p.Ser1492Pro)
c.4216+13884T>C (n.4216+13884T>C)
c.4582T>C (p.Ser1528Pro)
c.4555T>C (p.Ser1519Pro)
c.4409T>C (p.Leu1470Pro)
c.4292T>C (p.Leu1431Pro)
c.2989T>C (p.Ser997Pro)
n.4973T>C
n.4526+13884T>C
c.4546T>C (p.Ser1516Pro)
n.4989T>C
n.4735T>C
n.4542+13884T>C
 gnomAD v4
2g.227008164A>TCA351140740COL4A4c.265T>A (p.Ser89Thr)
c.4663T>A (p.Ser1555Thr)
c.4108T>A (p.Ser1370Thr)
c.4474T>A (p.Ser1492Thr)
c.4216+13884T>A (n.4216+13884T>A)
c.4582T>A (p.Ser1528Thr)
c.4555T>A (p.Ser1519Thr)
c.4409T>A (p.Leu1470His)
c.4292T>A (p.Leu1431His)
c.2989T>A (p.Ser997Thr)
n.4973T>A
n.4526+13884T>A
c.4546T>A (p.Ser1516Thr)
n.4989T>A
n.4735T>A
n.4542+13884T>A
2g.227008165G>ACA431671910COL4A4c.264C>T (p.Leu88=)
c.4662C>T (p.Leu1554=)
c.4107C>T (p.Leu1369=)
c.4473C>T (p.Leu1491=)
c.4216+13883C>T (n.4216+13883C>T)
c.4581C>T (p.Leu1527=)
c.4554C>T (p.Leu1518=)
c.4408C>T (p.Leu1470Phe)
c.4291C>T (p.Leu1431Phe)
c.2988C>T (p.Leu996=)
n.4972C>T
n.4526+13883C>T
c.4545C>T (p.Leu1515=)
n.4988C>T
n.4734C>T
n.4542+13883C>T
2g.227008165G>CCA431671911COL4A4c.264C>G (p.Leu88=)
c.4662C>G (p.Leu1554=)
c.4107C>G (p.Leu1369=)
c.4473C>G (p.Leu1491=)
c.4216+13883C>G (n.4216+13883C>G)
c.4581C>G (p.Leu1527=)
c.4554C>G (p.Leu1518=)
c.4408C>G (p.Leu1470Val)
c.4291C>G (p.Leu1431Val)
c.2988C>G (p.Leu996=)
n.4972C>G
n.4526+13883C>G
c.4545C>G (p.Leu1515=)
n.4988C>G
n.4734C>G
n.4542+13883C>G
2g.227008165G>TCA431671912COL4A4c.264C>A (p.Leu88=)
c.4662C>A (p.Leu1554=)
c.4107C>A (p.Leu1369=)
c.4473C>A (p.Leu1491=)
c.4216+13883C>A (n.4216+13883C>A)
c.4581C>A (p.Leu1527=)
c.4554C>A (p.Leu1518=)
c.4408C>A (p.Leu1470Ile)
c.4291C>A (p.Leu1431Ile)
c.2988C>A (p.Leu996=)
n.4972C>A
n.4526+13883C>A
c.4545C>A (p.Leu1515=)
n.4988C>A
n.4734C>A
n.4542+13883C>A
 gnomAD v4
2g.227008166A>CCA351140741COL4A4c.263T>G (p.Leu88Arg)
c.4661T>G (p.Leu1554Arg)
c.4106T>G (p.Leu1369Arg)
c.4472T>G (p.Leu1491Arg)
c.4216+13882T>G (n.4216+13882T>G)
c.4580T>G (p.Leu1527Arg)
c.4553T>G (p.Leu1518Arg)
c.4407T>G (p.Thr1469=)
c.4290T>G (p.Thr1430=)
c.2987T>G (p.Leu996Arg)
n.4971T>G
n.4526+13882T>G
c.4544T>G (p.Leu1515Arg)
n.4987T>G
n.4733T>G
n.4542+13882T>G
2g.227008166A>GCA351140742COL4A4c.263T>C (p.Leu88Pro)
c.4661T>C (p.Leu1554Pro)
c.4106T>C (p.Leu1369Pro)
c.4472T>C (p.Leu1491Pro)
c.4216+13882T>C (n.4216+13882T>C)
c.4580T>C (p.Leu1527Pro)
c.4553T>C (p.Leu1518Pro)
c.4407T>C (p.Thr1469=)
c.4290T>C (p.Thr1430=)
c.2987T>C (p.Leu996Pro)
n.4971T>C
n.4526+13882T>C
c.4544T>C (p.Leu1515Pro)
n.4987T>C
n.4733T>C
n.4542+13882T>C
 gnomAD v4
2g.227008166A>TCA351140743COL4A4c.263T>A (p.Leu88His)
c.4661T>A (p.Leu1554His)
c.4106T>A (p.Leu1369His)
c.4472T>A (p.Leu1491His)
c.4216+13882T>A (n.4216+13882T>A)
c.4580T>A (p.Leu1527His)
c.4553T>A (p.Leu1518His)
c.4407T>A (p.Thr1469=)
c.4290T>A (p.Thr1430=)
c.2987T>A (p.Leu996His)
n.4971T>A
n.4526+13882T>A
c.4544T>A (p.Leu1515His)
n.4987T>A
n.4733T>A
n.4542+13882T>A
2g.227008167G>ACA351140744COL4A4c.262C>T (p.Leu88Phe)
c.4660C>T (p.Leu1554Phe)
c.4105C>T (p.Leu1369Phe)
c.4471C>T (p.Leu1491Phe)
c.4216+13881C>T (n.4216+13881C>T)
c.4579C>T (p.Leu1527Phe)
c.4552C>T (p.Leu1518Phe)
c.4406C>T (p.Thr1469Ile)
c.4289C>T (p.Thr1430Ile)
c.2986C>T (p.Leu996Phe)
n.4970C>T
n.4526+13881C>T
c.4543C>T (p.Leu1515Phe)
n.4986C>T
n.4732C>T
n.4542+13881C>T
 ClinVar dbSNP
2g.227008167G>CCA351140745COL4A4c.262C>G (p.Leu88Val)
c.4660C>G (p.Leu1554Val)
c.4105C>G (p.Leu1369Val)
c.4471C>G (p.Leu1491Val)
c.4216+13881C>G (n.4216+13881C>G)
c.4579C>G (p.Leu1527Val)
c.4552C>G (p.Leu1518Val)
c.4406C>G (p.Thr1469Ser)
c.4289C>G (p.Thr1430Ser)
c.2986C>G (p.Leu996Val)
n.4970C>G
n.4526+13881C>G
c.4543C>G (p.Leu1515Val)
n.4986C>G
n.4732C>G
n.4542+13881C>G
2g.227008167G=CA1332723940COL4A4c.262C= (p.Leu88=)
c.4660C= (p.Leu1554=)
c.4105C= (p.Leu1369=)
c.4471C= (p.Leu1491=)
c.4216+13881C= (n.4216+13881C=)
c.4579C= (p.Leu1527=)
c.4552C= (p.Leu1518=)
c.4406C= (p.Thr1469=)
c.4289C= (p.Thr1430=)
c.2986C= (p.Leu996=)
n.4970C=
n.4526+13881C=
c.4543C= (p.Leu1515=)
n.4986C=
n.4732C=
n.4542+13881C=
2g.227008167G>TCA351140746COL4A4c.262C>A (p.Leu88Ile)
c.4660C>A (p.Leu1554Ile)
c.4105C>A (p.Leu1369Ile)
c.4471C>A (p.Leu1491Ile)
c.4216+13881C>A (n.4216+13881C>A)
c.4579C>A (p.Leu1527Ile)
c.4552C>A (p.Leu1518Ile)
c.4406C>A (p.Thr1469Asn)
c.4289C>A (p.Thr1430Asn)
c.2986C>A (p.Leu996Ile)
n.4970C>A
n.4526+13881C>A
c.4543C>A (p.Leu1515Ile)
n.4986C>A
n.4732C>A
n.4542+13881C>A
2g.227008168T>ACA431671914COL4A4c.261A>T (p.Pro87=)
c.4659A>T (p.Pro1553=)
c.4104A>T (p.Pro1368=)
c.4470A>T (p.Pro1490=)
c.4216+13880A>T (n.4216+13880A>T)
c.4578A>T (p.Pro1526=)
c.4551A>T (p.Pro1517=)
c.4405A>T (p.Thr1469Ser)
c.4288A>T (p.Thr1430Ser)
c.2985A>T (p.Pro995=)
n.4969A>T
n.4526+13880A>T
c.4542A>T (p.Pro1514=)
n.4985A>T
n.4731A>T
n.4542+13880A>T
2g.227008168T>CCA431671915COL4A4c.261A>G (p.Pro87=)
c.4659A>G (p.Pro1553=)
c.4104A>G (p.Pro1368=)
c.4470A>G (p.Pro1490=)
c.4216+13880A>G (n.4216+13880A>G)
c.4578A>G (p.Pro1526=)
c.4551A>G (p.Pro1517=)
c.4405A>G (p.Thr1469Ala)
c.4288A>G (p.Thr1430Ala)
c.2985A>G (p.Pro995=)
n.4969A>G
n.4526+13880A>G
c.4542A>G (p.Pro1514=)
n.4985A>G
n.4731A>G
n.4542+13880A>G
2g.227008168T>GCA431671916COL4A4c.261A>C (p.Pro87=)
c.4659A>C (p.Pro1553=)
c.4104A>C (p.Pro1368=)
c.4470A>C (p.Pro1490=)
c.4216+13880A>C (n.4216+13880A>C)
c.4578A>C (p.Pro1526=)
c.4551A>C (p.Pro1517=)
c.4405A>C (p.Thr1469Pro)
c.4288A>C (p.Thr1430Pro)
c.2985A>C (p.Pro995=)
n.4969A>C
n.4526+13880A>C
c.4542A>C (p.Pro1514=)
n.4985A>C
n.4731A>C
n.4542+13880A>C
2g.227008169G>ACA351140747COL4A4c.260C>T (p.Pro87Leu)
c.4658C>T (p.Pro1553Leu)
c.4103C>T (p.Pro1368Leu)
c.4469C>T (p.Pro1490Leu)
c.4216+13879C>T (n.4216+13879C>T)
c.4577C>T (p.Pro1526Leu)
c.4550C>T (p.Pro1517Leu)
c.4404C>T (p.Ala1468=)
c.4287C>T (p.Ala1429=)
c.2984C>T (p.Pro995Leu)
n.4968C>T
n.4526+13879C>T
c.4541C>T (p.Pro1514Leu)
n.4984C>T
n.4730C>T
n.4542+13879C>T
2g.227008169G>CCA351140749COL4A4c.260C>G (p.Pro87Arg)
c.4658C>G (p.Pro1553Arg)
c.4103C>G (p.Pro1368Arg)
c.4469C>G (p.Pro1490Arg)
c.4216+13879C>G (n.4216+13879C>G)
c.4577C>G (p.Pro1526Arg)
c.4550C>G (p.Pro1517Arg)
c.4404C>G (p.Ala1468=)
c.4287C>G (p.Ala1429=)
c.2984C>G (p.Pro995Arg)
n.4968C>G
n.4526+13879C>G
c.4541C>G (p.Pro1514Arg)
n.4984C>G
n.4730C>G
n.4542+13879C>G
2g.227008169G>TCA351140748COL4A4c.260C>A (p.Pro87Gln)
c.4658C>A (p.Pro1553Gln)
c.4103C>A (p.Pro1368Gln)
c.4469C>A (p.Pro1490Gln)
c.4216+13879C>A (n.4216+13879C>A)
c.4577C>A (p.Pro1526Gln)
c.4550C>A (p.Pro1517Gln)
c.4404C>A (p.Ala1468=)
c.4287C>A (p.Ala1429=)
c.2984C>A (p.Pro995Gln)
n.4968C>A
n.4526+13879C>A
c.4541C>A (p.Pro1514Gln)
n.4984C>A
n.4730C>A
n.4542+13879C>A
2g.227008170G>ACA351140750COL4A4c.259C>T (p.Pro87Ser)
c.4657C>T (p.Pro1553Ser)
c.4102C>T (p.Pro1368Ser)
c.4468C>T (p.Pro1490Ser)
c.4216+13878C>T (n.4216+13878C>T)
c.4576C>T (p.Pro1526Ser)
c.4549C>T (p.Pro1517Ser)
c.4403C>T (p.Ala1468Val)
c.4286C>T (p.Ala1429Val)
c.2983C>T (p.Pro995Ser)
n.4967C>T
n.4526+13878C>T
c.4540C>T (p.Pro1514Ser)
n.4983C>T
n.4729C>T
n.4542+13878C>T
2g.227008170G>CCA351140751COL4A4c.259C>G (p.Pro87Ala)
c.4657C>G (p.Pro1553Ala)
c.4102C>G (p.Pro1368Ala)
c.4468C>G (p.Pro1490Ala)
c.4216+13878C>G (n.4216+13878C>G)
c.4576C>G (p.Pro1526Ala)
c.4549C>G (p.Pro1517Ala)
c.4403C>G (p.Ala1468Gly)
c.4286C>G (p.Ala1429Gly)
c.2983C>G (p.Pro995Ala)
n.4967C>G
n.4526+13878C>G
c.4540C>G (p.Pro1514Ala)
n.4983C>G
n.4729C>G
n.4542+13878C>G
2g.227008170G>TCA351140752COL4A4c.259C>A (p.Pro87Thr)
c.4657C>A (p.Pro1553Thr)
c.4102C>A (p.Pro1368Thr)
c.4468C>A (p.Pro1490Thr)
c.4216+13878C>A (n.4216+13878C>A)
c.4576C>A (p.Pro1526Thr)
c.4549C>A (p.Pro1517Thr)
c.4403C>A (p.Ala1468Asp)
c.4286C>A (p.Ala1429Asp)
c.2983C>A (p.Pro995Thr)
n.4967C>A
n.4526+13878C>A
c.4540C>A (p.Pro1514Thr)
n.4983C>A
n.4729C>A
n.4542+13878C>A
2g.227008170_227008172delinsGCACA1332723941COL4A4c.257_259delinsTGC (p.Met86=)
c.4655_4657delinsTGC (p.Met1552=)
c.4100_4102delinsTGC (p.Met1367=)
c.4466_4468delinsTGC (p.Met1489=)
c.4216+13876_4216+13878delinsTGC (n.4216+13876_4216+13878delinsTGC)
c.4574_4576delinsTGC (p.Met1525=)
c.4547_4549delinsTGC (p.Met1516=)
c.4401_4403delinsTGC (p.Asp1467=)
c.4284_4286delinsTGC (p.Asp1428=)
c.2981_2983delinsTGC (p.Met994=)
n.4965_4967delinsTGC
n.4526+13876_4526+13878delinsTGC
c.4538_4540delinsTGC (p.Met1513=)
n.4981_4983delinsTGC
n.4727_4729delinsTGC
n.4542+13876_4542+13878delinsTGC
2g.227008171C>ACA351140753COL4A4c.258G>T (p.Met86Ile)
c.4656G>T (p.Met1552Ile)
c.4101G>T (p.Met1367Ile)
c.4467G>T (p.Met1489Ile)
c.4216+13877G>T (n.4216+13877G>T)
c.4575G>T (p.Met1525Ile)
c.4548G>T (p.Met1516Ile)
c.4402G>T (p.Ala1468Ser)
c.4285G>T (p.Ala1429Ser)
c.2982G>T (p.Met994Ile)
n.4966G>T
n.4526+13877G>T
c.4539G>T (p.Met1513Ile)
n.4982G>T
n.4728G>T
n.4542+13877G>T
2g.227008171C=CA1332723942COL4A4c.258G= (p.Met86=)
c.4656G= (p.Met1552=)
c.4101G= (p.Met1367=)
c.4467G= (p.Met1489=)
c.4216+13877G= (n.4216+13877G=)
c.4575G= (p.Met1525=)
c.4548G= (p.Met1516=)
c.4402G= (p.Ala1468=)
c.4285G= (p.Ala1429=)
c.2982G= (p.Met994=)
n.4966G=
n.4526+13877G=
c.4539G= (p.Met1513=)
n.4982G=
n.4728G=
n.4542+13877G=
2g.227008171C>GCA351140754COL4A4c.258G>C (p.Met86Ile)
c.4656G>C (p.Met1552Ile)
c.4101G>C (p.Met1367Ile)
c.4467G>C (p.Met1489Ile)
c.4216+13877G>C (n.4216+13877G>C)
c.4575G>C (p.Met1525Ile)
c.4548G>C (p.Met1516Ile)
c.4402G>C (p.Ala1468Pro)
c.4285G>C (p.Ala1429Pro)
c.2982G>C (p.Met994Ile)
n.4966G>C
n.4526+13877G>C
c.4539G>C (p.Met1513Ile)
n.4982G>C
n.4728G>C
n.4542+13877G>C
2g.227008171C>TCA2144104COL4A4c.258G>A (p.Met86Ile)
c.4656G>A (p.Met1552Ile)
c.4101G>A (p.Met1367Ile)
c.4467G>A (p.Met1489Ile)
c.4216+13877G>A (n.4216+13877G>A)
c.4575G>A (p.Met1525Ile)
c.4548G>A (p.Met1516Ile)
c.4402G>A (p.Ala1468Thr)
c.4285G>A (p.Ala1429Thr)
c.2982G>A (p.Met994Ile)
n.4966G>A
n.4526+13877G>A
c.4539G>A (p.Met1513Ile)
n.4982G>A
n.4728G>A
n.4542+13877G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008171_227008172delCA2144103COL4A4c.257_258del (p.Met86ThrfsTer4)
c.4655_4656del (p.Met1552ThrfsTer4)
c.4100_4101del (p.Met1367ThrfsTer4)
c.4466_4467del (p.Met1489ThrfsTer4)
c.4216+13876_4216+13877del (n.4216+13876_4216+13877del)
c.4574_4575del (p.Met1525ThrfsTer4)
c.4547_4548del (p.Met1516ThrfsTer4)
c.4401_4402del (p.Ala1468HisfsTer?)
c.4284_4285del (p.Ala1429HisfsTer?)
c.2981_2982del (p.Met994ThrfsTer4)
n.4965_4966del
n.4526+13876_4526+13877del
c.4538_4539del (p.Met1513ThrfsTer4)
n.4981_4982del
n.4727_4728del
n.4542+13876_4542+13877del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008174_227008176delCA2663402693COL4A4c.256_258del (p.Met86del)
c.4654_4656del (p.Met1552del)
c.4099_4101del (p.Met1367del)
c.4465_4467del (p.Met1489del)
c.4216+13875_4216+13877del (n.4216+13875_4216+13877del)
c.4573_4575del (p.Met1525del)
c.4546_4548del (p.Met1516del)
c.4400_4402del (p.Asp1467del)
c.4283_4285del (p.Asp1428del)
c.2980_2982del (p.Met994del)
n.4964_4966del
n.4526+13875_4526+13877del
c.4537_4539del (p.Met1513del)
n.4980_4982del
n.4726_4728del
n.4542+13875_4542+13877del
 gnomAD v4
2g.227008172A>CCA351140755COL4A4c.257T>G (p.Met86Arg)
c.4655T>G (p.Met1552Arg)
c.4100T>G (p.Met1367Arg)
c.4466T>G (p.Met1489Arg)
c.4216+13876T>G (n.4216+13876T>G)
c.4574T>G (p.Met1525Arg)
c.4547T>G (p.Met1516Arg)
c.4401T>G (p.Asp1467Glu)
c.4284T>G (p.Asp1428Glu)
c.2981T>G (p.Met994Arg)
n.4965T>G
n.4526+13876T>G
c.4538T>G (p.Met1513Arg)
n.4981T>G
n.4727T>G
n.4542+13876T>G
2g.227008172A>GCA351140756COL4A4c.257T>C (p.Met86Thr)
c.4655T>C (p.Met1552Thr)
c.4100T>C (p.Met1367Thr)
c.4466T>C (p.Met1489Thr)
c.4216+13876T>C (n.4216+13876T>C)
c.4574T>C (p.Met1525Thr)
c.4547T>C (p.Met1516Thr)
c.4401T>C (p.Asp1467=)
c.4284T>C (p.Asp1428=)
c.2981T>C (p.Met994Thr)
n.4965T>C
n.4526+13876T>C
c.4538T>C (p.Met1513Thr)
n.4981T>C
n.4727T>C
n.4542+13876T>C
2g.227008172A>TCA351140757COL4A4c.257T>A (p.Met86Lys)
c.4655T>A (p.Met1552Lys)
c.4100T>A (p.Met1367Lys)
c.4466T>A (p.Met1489Lys)
c.4216+13876T>A (n.4216+13876T>A)
c.4574T>A (p.Met1525Lys)
c.4547T>A (p.Met1516Lys)
c.4401T>A (p.Asp1467Glu)
c.4284T>A (p.Asp1428Glu)
c.2981T>A (p.Met994Lys)
n.4965T>A
n.4526+13876T>A
c.4538T>A (p.Met1513Lys)
n.4981T>A
n.4727T>A
n.4542+13876T>A
2g.227008173T>ACA351140759COL4A4c.256A>T (p.Met86Leu)
c.4654A>T (p.Met1552Leu)
c.4099A>T (p.Met1367Leu)
c.4465A>T (p.Met1489Leu)
c.4216+13875A>T (n.4216+13875A>T)
c.4573A>T (p.Met1525Leu)
c.4546A>T (p.Met1516Leu)
c.4400A>T (p.Asp1467Val)
c.4283A>T (p.Asp1428Val)
c.2980A>T (p.Met994Leu)
n.4964A>T
n.4526+13875A>T
c.4537A>T (p.Met1513Leu)
n.4980A>T
n.4726A>T
n.4542+13875A>T
2g.227008173T>CCA351140760COL4A4c.256A>G (p.Met86Val)
c.4654A>G (p.Met1552Val)
c.4099A>G (p.Met1367Val)
c.4465A>G (p.Met1489Val)
c.4216+13875A>G (n.4216+13875A>G)
c.4573A>G (p.Met1525Val)
c.4546A>G (p.Met1516Val)
c.4400A>G (p.Asp1467Gly)
c.4283A>G (p.Asp1428Gly)
c.2980A>G (p.Met994Val)
n.4964A>G
n.4526+13875A>G
c.4537A>G (p.Met1513Val)
n.4980A>G
n.4726A>G
n.4542+13875A>G
2g.227008173T>GCA351140758COL4A4c.256A>C (p.Met86Leu)
c.4654A>C (p.Met1552Leu)
c.4099A>C (p.Met1367Leu)
c.4465A>C (p.Met1489Leu)
c.4216+13875A>C (n.4216+13875A>C)
c.4573A>C (p.Met1525Leu)
c.4546A>C (p.Met1516Leu)
c.4400A>C (p.Asp1467Ala)
c.4283A>C (p.Asp1428Ala)
c.2980A>C (p.Met994Leu)
n.4964A>C
n.4526+13875A>C
c.4537A>C (p.Met1513Leu)
n.4980A>C
n.4726A>C
n.4542+13875A>C
2g.227008173T=CA1332723943COL4A4c.256A= (p.Met86=)
c.4654A= (p.Met1552=)
c.4099A= (p.Met1367=)
c.4465A= (p.Met1489=)
c.4216+13875A= (n.4216+13875A=)
c.4573A= (p.Met1525=)
c.4546A= (p.Met1516=)
c.4400A= (p.Asp1467=)
c.4283A= (p.Asp1428=)
c.2980A= (p.Met994=)
n.4964A=
n.4526+13875A=
c.4537A= (p.Met1513=)
n.4980A=
n.4726A=
n.4542+13875A=
2g.227008173_227008174insGGCA2144105COL4A4c.255_256insCC (p.Met86ProfsTer?)
c.4653_4654insCC (p.Met1552ProfsTer?)
c.4098_4099insCC (p.Met1367ProfsTer?)
c.4464_4465insCC (p.Met1489ProfsTer?)
c.4216+13874_4216+13875insCC (n.4216+13874_4216+13875insCC)
c.4572_4573insCC (p.Met1525ProfsTer?)
c.4545_4546insCC (p.Met1516ProfsTer?)
c.4399_4400insCC (p.Asp1467AlafsTer?)
c.4282_4283insCC (p.Asp1428AlafsTer?)
c.2979_2980insCC (p.Met994ProfsTer?)
n.4963_4964insCC
n.4526+13874_4526+13875insCC
c.4536_4537insCC (p.Met1513ProfsTer?)
n.4979_4980insCC
n.4725_4726insCC
n.4542+13874_4542+13875insCC
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008174C>ACA351140761COL4A4c.255G>T (p.Met85Ile)
c.4653G>T (p.Met1551Ile)
c.4098G>T (p.Met1366Ile)
c.4464G>T (p.Met1488Ile)
c.4216+13874G>T (n.4216+13874G>T)
c.4572G>T (p.Met1524Ile)
c.4545G>T (p.Met1515Ile)
c.4399G>T (p.Asp1467Tyr)
c.4282G>T (p.Asp1428Tyr)
c.2979G>T (p.Met993Ile)
n.4963G>T
n.4526+13874G>T
c.4536G>T (p.Met1512Ile)
n.4979G>T
n.4725G>T
n.4542+13874G>T
2g.227008174C>GCA351140762COL4A4c.255G>C (p.Met85Ile)
c.4653G>C (p.Met1551Ile)
c.4098G>C (p.Met1366Ile)
c.4464G>C (p.Met1488Ile)
c.4216+13874G>C (n.4216+13874G>C)
c.4572G>C (p.Met1524Ile)
c.4545G>C (p.Met1515Ile)
c.4399G>C (p.Asp1467His)
c.4282G>C (p.Asp1428His)
c.2979G>C (p.Met993Ile)
n.4963G>C
n.4526+13874G>C
c.4536G>C (p.Met1512Ile)
n.4979G>C
n.4725G>C
n.4542+13874G>C
2g.227008174C>TCA351140763COL4A4c.255G>A (p.Met85Ile)
c.4653G>A (p.Met1551Ile)
c.4098G>A (p.Met1366Ile)
c.4464G>A (p.Met1488Ile)
c.4216+13874G>A (n.4216+13874G>A)
c.4572G>A (p.Met1524Ile)
c.4545G>A (p.Met1515Ile)
c.4399G>A (p.Asp1467Asn)
c.4282G>A (p.Asp1428Asn)
c.2979G>A (p.Met993Ile)
n.4963G>A
n.4526+13874G>A
c.4536G>A (p.Met1512Ile)
n.4979G>A
n.4725G>A
n.4542+13874G>A
2g.227008175A=CA1332723944COL4A4c.254T= (p.Met85=)
c.4652T= (p.Met1551=)
c.4097T= (p.Met1366=)
c.4463T= (p.Met1488=)
c.4216+13873T= (n.4216+13873T=)
c.4571T= (p.Met1524=)
c.4544T= (p.Met1515=)
c.4398T= (p.His1466=)
c.4281T= (p.His1427=)
c.2978T= (p.Met993=)
n.4962T=
n.4526+13873T=
c.4535T= (p.Met1512=)
n.4978T=
n.4724T=
n.4542+13873T=
2g.227008175A>CCA351140764COL4A4c.254T>G (p.Met85Arg)
c.4652T>G (p.Met1551Arg)
c.4097T>G (p.Met1366Arg)
c.4463T>G (p.Met1488Arg)
c.4216+13873T>G (n.4216+13873T>G)
c.4571T>G (p.Met1524Arg)
c.4544T>G (p.Met1515Arg)
c.4398T>G (p.His1466Gln)
c.4281T>G (p.His1427Gln)
c.2978T>G (p.Met993Arg)
n.4962T>G
n.4526+13873T>G
c.4535T>G (p.Met1512Arg)
n.4978T>G
n.4724T>G
n.4542+13873T>G
2g.227008175A>GCA351140765COL4A4c.254T>C (p.Met85Thr)
c.4652T>C (p.Met1551Thr)
c.4097T>C (p.Met1366Thr)
c.4463T>C (p.Met1488Thr)
c.4216+13873T>C (n.4216+13873T>C)
c.4571T>C (p.Met1524Thr)
c.4544T>C (p.Met1515Thr)
c.4398T>C (p.His1466=)
c.4281T>C (p.His1427=)
c.2978T>C (p.Met993Thr)
n.4962T>C
n.4526+13873T>C
c.4535T>C (p.Met1512Thr)
n.4978T>C
n.4724T>C
n.4542+13873T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227008175A>TCA351140766COL4A4c.254T>A (p.Met85Lys)
c.4652T>A (p.Met1551Lys)
c.4097T>A (p.Met1366Lys)
c.4463T>A (p.Met1488Lys)
c.4216+13873T>A (n.4216+13873T>A)
c.4571T>A (p.Met1524Lys)
c.4544T>A (p.Met1515Lys)
c.4398T>A (p.His1466Gln)
c.4281T>A (p.His1427Gln)
c.2978T>A (p.Met993Lys)
n.4962T>A
n.4526+13873T>A
c.4535T>A (p.Met1512Lys)
n.4978T>A
n.4724T>A
n.4542+13873T>A
 dbSNP
2g.227008176T>ACA351140767COL4A4c.253A>T (p.Met85Leu)
c.4651A>T (p.Met1551Leu)
c.4096A>T (p.Met1366Leu)
c.4462A>T (p.Met1488Leu)
c.4216+13872A>T (n.4216+13872A>T)
c.4570A>T (p.Met1524Leu)
c.4543A>T (p.Met1515Leu)
c.4397A>T (p.His1466Leu)
c.4280A>T (p.His1427Leu)
c.2977A>T (p.Met993Leu)
n.4961A>T
n.4526+13872A>T
c.4534A>T (p.Met1512Leu)
n.4977A>T
n.4723A>T
n.4542+13872A>T
2g.227008176T>CCA351140768COL4A4c.253A>G (p.Met85Val)
c.4651A>G (p.Met1551Val)
c.4096A>G (p.Met1366Val)
c.4462A>G (p.Met1488Val)
c.4216+13872A>G (n.4216+13872A>G)
c.4570A>G (p.Met1524Val)
c.4543A>G (p.Met1515Val)
c.4397A>G (p.His1466Arg)
c.4280A>G (p.His1427Arg)
c.2977A>G (p.Met993Val)
n.4961A>G
n.4526+13872A>G
c.4534A>G (p.Met1512Val)
n.4977A>G
n.4723A>G
n.4542+13872A>G
 dbSNP gnomAD v4
2g.227008176T>GCA351140769COL4A4c.253A>C (p.Met85Leu)
c.4651A>C (p.Met1551Leu)
c.4096A>C (p.Met1366Leu)
c.4462A>C (p.Met1488Leu)
c.4216+13872A>C (n.4216+13872A>C)
c.4570A>C (p.Met1524Leu)
c.4543A>C (p.Met1515Leu)
c.4397A>C (p.His1466Pro)
c.4280A>C (p.His1427Pro)
c.2977A>C (p.Met993Leu)
n.4961A>C
n.4526+13872A>C
c.4534A>C (p.Met1512Leu)
n.4977A>C
n.4723A>C
n.4542+13872A>C
 dbSNP gnomAD v2 gnomAD v4
2g.227008176T=CA1332723945COL4A4c.253A= (p.Met85=)
c.4651A= (p.Met1551=)
c.4096A= (p.Met1366=)
c.4462A= (p.Met1488=)
c.4216+13872A= (n.4216+13872A=)
c.4570A= (p.Met1524=)
c.4543A= (p.Met1515=)
c.4397A= (p.His1466=)
c.4280A= (p.His1427=)
c.2977A= (p.Met993=)
n.4961A=
n.4526+13872A=
c.4534A= (p.Met1512=)
n.4977A=
n.4723A=
n.4542+13872A=
2g.227008177G>ACA431671924COL4A4c.252C>T (p.Pro84=)
c.4650C>T (p.Pro1550=)
c.4095C>T (p.Pro1365=)
c.4461C>T (p.Pro1487=)
c.4216+13871C>T (n.4216+13871C>T)
c.4569C>T (p.Pro1523=)
c.4542C>T (p.Pro1514=)
c.4396C>T (p.His1466Tyr)
c.4279C>T (p.His1427Tyr)
c.2976C>T (p.Pro992=)
n.4960C>T
n.4526+13871C>T
c.4533C>T (p.Pro1511=)
n.4976C>T
n.4722C>T
n.4542+13871C>T
2g.227008177G>CCA431671925COL4A4c.252C>G (p.Pro84=)
c.4650C>G (p.Pro1550=)
c.4095C>G (p.Pro1365=)
c.4461C>G (p.Pro1487=)
c.4216+13871C>G (n.4216+13871C>G)
c.4569C>G (p.Pro1523=)
c.4542C>G (p.Pro1514=)
c.4396C>G (p.His1466Asp)
c.4279C>G (p.His1427Asp)
c.2976C>G (p.Pro992=)
n.4960C>G
n.4526+13871C>G
c.4533C>G (p.Pro1511=)
n.4976C>G
n.4722C>G
n.4542+13871C>G
2g.227008177G=CA1332723946COL4A4c.252C= (p.Pro84=)
c.4650C= (p.Pro1550=)
c.4095C= (p.Pro1365=)
c.4461C= (p.Pro1487=)
c.4216+13871C= (n.4216+13871C=)
c.4569C= (p.Pro1523=)
c.4542C= (p.Pro1514=)
c.4396C= (p.His1466=)
c.4279C= (p.His1427=)
c.2976C= (p.Pro992=)
n.4960C=
n.4526+13871C=
c.4533C= (p.Pro1511=)
n.4976C=
n.4722C=
n.4542+13871C=
2g.227008177G>TCA2144106COL4A4c.252C>A (p.Pro84=)
c.4650C>A (p.Pro1550=)
c.4095C>A (p.Pro1365=)
c.4461C>A (p.Pro1487=)
c.4216+13871C>A (n.4216+13871C>A)
c.4569C>A (p.Pro1523=)
c.4542C>A (p.Pro1514=)
c.4396C>A (p.His1466Asn)
c.4279C>A (p.His1427Asn)
c.2976C>A (p.Pro992=)
n.4960C>A
n.4526+13871C>A
c.4533C>A (p.Pro1511=)
n.4976C>A
n.4722C>A
n.4542+13871C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008180delCA2740098046COL4A4c.252del (p.Met85Ter)
c.4650del (p.Met1551Ter)
c.4095del (p.Met1366Ter)
c.4461del (p.Met1488Ter)
c.4216+13871del (n.4216+13871del)
c.4569del (p.Met1524Ter)
c.4542del (p.Met1515Ter)
c.4396del (p.His1466MetfsTer?)
c.4279del (p.His1427MetfsTer?)
c.2976del (p.Met993Ter)
n.4960del
n.4526+13871del
c.4533del (p.Met1512Ter)
n.4976del
n.4722del
n.4542+13871del
 ClinVar
2g.227008178G>ACA351140770COL4A4c.251C>T (p.Pro84Leu)
c.4649C>T (p.Pro1550Leu)
c.4094C>T (p.Pro1365Leu)
c.4460C>T (p.Pro1487Leu)
c.4216+13870C>T (n.4216+13870C>T)
c.4568C>T (p.Pro1523Leu)
c.4541C>T (p.Pro1514Leu)
c.4395C>T (p.Pro1465=)
c.4278C>T (p.Pro1426=)
c.2975C>T (p.Pro992Leu)
n.4959C>T
n.4526+13870C>T
c.4532C>T (p.Pro1511Leu)
n.4975C>T
n.4721C>T
n.4542+13870C>T
2g.227008178G>CCA351140771COL4A4c.251C>G (p.Pro84Arg)
c.4649C>G (p.Pro1550Arg)
c.4094C>G (p.Pro1365Arg)
c.4460C>G (p.Pro1487Arg)
c.4216+13870C>G (n.4216+13870C>G)
c.4568C>G (p.Pro1523Arg)
c.4541C>G (p.Pro1514Arg)
c.4395C>G (p.Pro1465=)
c.4278C>G (p.Pro1426=)
c.2975C>G (p.Pro992Arg)
n.4959C>G
n.4526+13870C>G
c.4532C>G (p.Pro1511Arg)
n.4975C>G
n.4721C>G
n.4542+13870C>G
2g.227008178G>TCA351140772COL4A4c.251C>A (p.Pro84His)
c.4649C>A (p.Pro1550His)
c.4094C>A (p.Pro1365His)
c.4460C>A (p.Pro1487His)
c.4216+13870C>A (n.4216+13870C>A)
c.4568C>A (p.Pro1523His)
c.4541C>A (p.Pro1514His)
c.4395C>A (p.Pro1465=)
c.4278C>A (p.Pro1426=)
c.2975C>A (p.Pro992His)
n.4959C>A
n.4526+13870C>A
c.4532C>A (p.Pro1511His)
n.4975C>A
n.4721C>A
n.4542+13870C>A
2g.227008179G>ACA351140775COL4A4c.250C>T (p.Pro84Ser)
c.4648C>T (p.Pro1550Ser)
c.4093C>T (p.Pro1365Ser)
c.4459C>T (p.Pro1487Ser)
c.4216+13869C>T (n.4216+13869C>T)
c.4567C>T (p.Pro1523Ser)
c.4540C>T (p.Pro1514Ser)
c.4394C>T (p.Pro1465Leu)
c.4277C>T (p.Pro1426Leu)
c.2974C>T (p.Pro992Ser)
n.4958C>T
n.4526+13869C>T
c.4531C>T (p.Pro1511Ser)
n.4974C>T
n.4720C>T
n.4542+13869C>T
2g.227008179G>CCA351140774COL4A4c.250C>G (p.Pro84Ala)
c.4648C>G (p.Pro1550Ala)
c.4093C>G (p.Pro1365Ala)
c.4459C>G (p.Pro1487Ala)
c.4216+13869C>G (n.4216+13869C>G)
c.4567C>G (p.Pro1523Ala)
c.4540C>G (p.Pro1514Ala)
c.4394C>G (p.Pro1465Arg)
c.4277C>G (p.Pro1426Arg)
c.2974C>G (p.Pro992Ala)
n.4958C>G
n.4526+13869C>G
c.4531C>G (p.Pro1511Ala)
n.4974C>G
n.4720C>G
n.4542+13869C>G
2g.227008179G>TCA351140773COL4A4c.250C>A (p.Pro84Thr)
c.4648C>A (p.Pro1550Thr)
c.4093C>A (p.Pro1365Thr)
c.4459C>A (p.Pro1487Thr)
c.4216+13869C>A (n.4216+13869C>A)
c.4567C>A (p.Pro1523Thr)
c.4540C>A (p.Pro1514Thr)
c.4394C>A (p.Pro1465His)
c.4277C>A (p.Pro1426His)
c.2974C>A (p.Pro992Thr)
n.4958C>A
n.4526+13869C>A
c.4531C>A (p.Pro1511Thr)
n.4974C>A
n.4720C>A
n.4542+13869C>A
2g.227008180G>ACA431671928COL4A4c.249C>T (p.Leu83=)
c.4647C>T (p.Leu1549=)
c.4092C>T (p.Leu1364=)
c.4458C>T (p.Leu1486=)
c.4216+13868C>T (n.4216+13868C>T)
c.4566C>T (p.Leu1522=)
c.4539C>T (p.Leu1513=)
c.4393C>T (p.Pro1465Ser)
c.4276C>T (p.Pro1426Ser)
c.2973C>T (p.Leu991=)
n.4957C>T
n.4526+13868C>T
c.4530C>T (p.Leu1510=)
n.4973C>T
n.4719C>T
n.4542+13868C>T
2g.227008180G>CCA431671926COL4A4c.249C>G (p.Leu83=)
c.4647C>G (p.Leu1549=)
c.4092C>G (p.Leu1364=)
c.4458C>G (p.Leu1486=)
c.4216+13868C>G (n.4216+13868C>G)
c.4566C>G (p.Leu1522=)
c.4539C>G (p.Leu1513=)
c.4393C>G (p.Pro1465Ala)
c.4276C>G (p.Pro1426Ala)
c.2973C>G (p.Leu991=)
n.4957C>G
n.4526+13868C>G
c.4530C>G (p.Leu1510=)
n.4973C>G
n.4719C>G
n.4542+13868C>G
2g.227008180G>TCA431671927COL4A4c.249C>A (p.Leu83=)
c.4647C>A (p.Leu1549=)
c.4092C>A (p.Leu1364=)
c.4458C>A (p.Leu1486=)
c.4216+13868C>A (n.4216+13868C>A)
c.4566C>A (p.Leu1522=)
c.4539C>A (p.Leu1513=)
c.4393C>A (p.Pro1465Thr)
c.4276C>A (p.Pro1426Thr)
c.2973C>A (p.Leu991=)
n.4957C>A
n.4526+13868C>A
c.4530C>A (p.Leu1510=)
n.4973C>A
n.4719C>A
n.4542+13868C>A
2g.227008181delCA2586965584COL4A4c.248del (p.Leu83ProfsTer3)
c.4646del (p.Leu1549ProfsTer3)
c.4091del (p.Leu1364ProfsTer3)
c.4457del (p.Leu1486ProfsTer3)
c.4216+13867del (n.4216+13867del)
c.4565del (p.Leu1522ProfsTer3)
c.4538del (p.Leu1513ProfsTer3)
c.4392del (p.His1466MetfsTer?)
c.4275del (p.His1427MetfsTer?)
c.2972del (p.Leu991ProfsTer3)
n.4956del
n.4526+13867del
c.4529del (p.Leu1510ProfsTer3)
n.4972del
n.4718del
n.4542+13867del
 gnomAD v4
2g.227008181A=CA1332723947COL4A4c.248T= (p.Leu83=)
c.4646T= (p.Leu1549=)
c.4091T= (p.Leu1364=)
c.4457T= (p.Leu1486=)
c.4216+13867T= (n.4216+13867T=)
c.4565T= (p.Leu1522=)
c.4538T= (p.Leu1513=)
c.4392T= (p.Pro1464=)
c.4275T= (p.Pro1425=)
c.2972T= (p.Leu991=)
n.4956T=
n.4526+13867T=
c.4529T= (p.Leu1510=)
n.4972T=
n.4718T=
n.4542+13867T=
2g.227008181A>CCA351140776COL4A4c.248T>G (p.Leu83Arg)
c.4646T>G (p.Leu1549Arg)
c.4091T>G (p.Leu1364Arg)
c.4457T>G (p.Leu1486Arg)
c.4216+13867T>G (n.4216+13867T>G)
c.4565T>G (p.Leu1522Arg)
c.4538T>G (p.Leu1513Arg)
c.4392T>G (p.Pro1464=)
c.4275T>G (p.Pro1425=)
c.2972T>G (p.Leu991Arg)
n.4956T>G
n.4526+13867T>G
c.4529T>G (p.Leu1510Arg)
n.4972T>G
n.4718T>G
n.4542+13867T>G
2g.227008181A>GCA351140777COL4A4c.248T>C (p.Leu83Pro)
c.4646T>C (p.Leu1549Pro)
c.4091T>C (p.Leu1364Pro)
c.4457T>C (p.Leu1486Pro)
c.4216+13867T>C (n.4216+13867T>C)
c.4565T>C (p.Leu1522Pro)
c.4538T>C (p.Leu1513Pro)
c.4392T>C (p.Pro1464=)
c.4275T>C (p.Pro1425=)
c.2972T>C (p.Leu991Pro)
n.4956T>C
n.4526+13867T>C
c.4529T>C (p.Leu1510Pro)
n.4972T>C
n.4718T>C
n.4542+13867T>C
 dbSNP gnomAD v2
2g.227008181A>TCA351140778COL4A4c.248T>A (p.Leu83His)
c.4646T>A (p.Leu1549His)
c.4091T>A (p.Leu1364His)
c.4457T>A (p.Leu1486His)
c.4216+13867T>A (n.4216+13867T>A)
c.4565T>A (p.Leu1522His)
c.4538T>A (p.Leu1513His)
c.4392T>A (p.Pro1464=)
c.4275T>A (p.Pro1425=)
c.2972T>A (p.Leu991His)
n.4956T>A
n.4526+13867T>A
c.4529T>A (p.Leu1510His)
n.4972T>A
n.4718T>A
n.4542+13867T>A
2g.227008181dupCA2573135353COL4A4c.248dup (p.Met85HisfsTer6)
c.4646dup (p.Met1551HisfsTer6)
c.4091dup (p.Met1366HisfsTer6)
c.4457dup (p.Met1488HisfsTer6)
c.4216+13867dup (n.4216+13867dup)
c.4565dup (p.Met1524HisfsTer6)
c.4538dup (p.Met1515HisfsTer6)
c.4392dup (p.Pro1465SerfsTer3)
c.4275dup (p.Pro1426SerfsTer3)
c.2972dup (p.Met993HisfsTer6)
n.4956dup
n.4526+13867dup
c.4529dup (p.Met1512HisfsTer6)
n.4972dup
n.4718dup
n.4542+13867dup
 ClinVar dbSNP
2g.227008182G>ACA2144107COL4A4c.247C>T (p.Leu83Phe)
c.4645C>T (p.Leu1549Phe)
c.4090C>T (p.Leu1364Phe)
c.4456C>T (p.Leu1486Phe)
c.4216+13866C>T (n.4216+13866C>T)
c.4564C>T (p.Leu1522Phe)
c.4537C>T (p.Leu1513Phe)
c.4391C>T (p.Pro1464Leu)
c.4274C>T (p.Pro1425Leu)
c.2971C>T (p.Leu991Phe)
n.4955C>T
n.4526+13866C>T
c.4528C>T (p.Leu1510Phe)
n.4971C>T
n.4717C>T
n.4542+13866C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008182G>CCA351140779COL4A4c.247C>G (p.Leu83Val)
c.4645C>G (p.Leu1549Val)
c.4090C>G (p.Leu1364Val)
c.4456C>G (p.Leu1486Val)
c.4216+13866C>G (n.4216+13866C>G)
c.4564C>G (p.Leu1522Val)
c.4537C>G (p.Leu1513Val)
c.4391C>G (p.Pro1464Arg)
c.4274C>G (p.Pro1425Arg)
c.2971C>G (p.Leu991Val)
n.4955C>G
n.4526+13866C>G
c.4528C>G (p.Leu1510Val)
n.4971C>G
n.4717C>G
n.4542+13866C>G
 gnomAD v4
2g.227008182G=CA1332723948COL4A4c.247C= (p.Leu83=)
c.4645C= (p.Leu1549=)
c.4090C= (p.Leu1364=)
c.4456C= (p.Leu1486=)
c.4216+13866C= (n.4216+13866C=)
c.4564C= (p.Leu1522=)
c.4537C= (p.Leu1513=)
c.4391C= (p.Pro1464=)
c.4274C= (p.Pro1425=)
c.2971C= (p.Leu991=)
n.4955C=
n.4526+13866C=
c.4528C= (p.Leu1510=)
n.4971C=
n.4717C=
n.4542+13866C=
2g.227008182G>TCA351140780COL4A4c.247C>A (p.Leu83Ile)
c.4645C>A (p.Leu1549Ile)
c.4090C>A (p.Leu1364Ile)
c.4456C>A (p.Leu1486Ile)
c.4216+13866C>A (n.4216+13866C>A)
c.4564C>A (p.Leu1522Ile)
c.4537C>A (p.Leu1513Ile)
c.4391C>A (p.Pro1464His)
c.4274C>A (p.Pro1425His)
c.2971C>A (p.Leu991Ile)
n.4955C>A
n.4526+13866C>A
c.4528C>A (p.Leu1510Ile)
n.4971C>A
n.4717C>A
n.4542+13866C>A
2g.227008185delCA2580065936COL4A4c.247del (p.Leu83SerfsTer3)
c.4645del (p.Leu1549SerfsTer3)
c.4090del (p.Leu1364SerfsTer3)
c.4456del (p.Leu1486SerfsTer3)
c.4216+13866del (n.4216+13866del)
c.4564del (p.Leu1522SerfsTer3)
c.4537del (p.Leu1513SerfsTer3)
c.4391del (p.Pro1464LeufsTer?)
c.4274del (p.Pro1425LeufsTer?)
c.2971del (p.Leu991SerfsTer3)
n.4955del
n.4526+13866del
c.4528del (p.Leu1510SerfsTer3)
n.4971del
n.4717del
n.4542+13866del
 ClinVar
2g.227008183G>ACA2144108COL4A4c.246C>T (p.Pro82=)
c.4644C>T (p.Pro1548=)
c.4089C>T (p.Pro1363=)
c.4455C>T (p.Pro1485=)
c.4216+13865C>T (n.4216+13865C>T)
c.4563C>T (p.Pro1521=)
c.4536C>T (p.Pro1512=)
c.4390C>T (p.Pro1464Ser)
c.4273C>T (p.Pro1425Ser)
c.2970C>T (p.Pro990=)
n.4954C>T
n.4526+13865C>T
c.4527C>T (p.Pro1509=)
n.4970C>T
n.4716C>T
n.4542+13865C>T
 dbSNP ExAC gnomAD v2 COSMIC
2g.227008183G>CCA431671932COL4A4c.246C>G (p.Pro82=)
c.4644C>G (p.Pro1548=)
c.4089C>G (p.Pro1363=)
c.4455C>G (p.Pro1485=)
c.4216+13865C>G (n.4216+13865C>G)
c.4563C>G (p.Pro1521=)
c.4536C>G (p.Pro1512=)
c.4390C>G (p.Pro1464Ala)
c.4273C>G (p.Pro1425Ala)
c.2970C>G (p.Pro990=)
n.4954C>G
n.4526+13865C>G
c.4527C>G (p.Pro1509=)
n.4970C>G
n.4716C>G
n.4542+13865C>G
2g.227008183G=CA1332723949COL4A4c.246C= (p.Pro82=)
c.4644C= (p.Pro1548=)
c.4089C= (p.Pro1363=)
c.4455C= (p.Pro1485=)
c.4216+13865C= (n.4216+13865C=)
c.4563C= (p.Pro1521=)
c.4536C= (p.Pro1512=)
c.4390C= (p.Pro1464=)
c.4273C= (p.Pro1425=)
c.2970C= (p.Pro990=)
n.4954C=
n.4526+13865C=
c.4527C= (p.Pro1509=)
n.4970C=
n.4716C=
n.4542+13865C=
2g.227008183G>TCA431671933COL4A4c.246C>A (p.Pro82=)
c.4644C>A (p.Pro1548=)
c.4089C>A (p.Pro1363=)
c.4455C>A (p.Pro1485=)
c.4216+13865C>A (n.4216+13865C>A)
c.4563C>A (p.Pro1521=)
c.4536C>A (p.Pro1512=)
c.4390C>A (p.Pro1464Thr)
c.4273C>A (p.Pro1425Thr)
c.2970C>A (p.Pro990=)
n.4954C>A
n.4526+13865C>A
c.4527C>A (p.Pro1509=)
n.4970C>A
n.4716C>A
n.4542+13865C>A
2g.227008184G>ACA2144109COL4A4c.245C>T (p.Pro82Leu)
c.4643C>T (p.Pro1548Leu)
c.4088C>T (p.Pro1363Leu)
c.4454C>T (p.Pro1485Leu)
c.4216+13864C>T (n.4216+13864C>T)
c.4562C>T (p.Pro1521Leu)
c.4535C>T (p.Pro1512Leu)
c.4389C>T (p.Ala1463=)
c.4272C>T (p.Ala1424=)
c.2969C>T (p.Pro990Leu)
n.4953C>T
n.4526+13864C>T
c.4526C>T (p.Pro1509Leu)
n.4969C>T
n.4715C>T
n.4542+13864C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008184G>CCA351140781COL4A4c.245C>G (p.Pro82Arg)
c.4643C>G (p.Pro1548Arg)
c.4088C>G (p.Pro1363Arg)
c.4454C>G (p.Pro1485Arg)
c.4216+13864C>G (n.4216+13864C>G)
c.4562C>G (p.Pro1521Arg)
c.4535C>G (p.Pro1512Arg)
c.4389C>G (p.Ala1463=)
c.4272C>G (p.Ala1424=)
c.2969C>G (p.Pro990Arg)
n.4953C>G
n.4526+13864C>G
c.4526C>G (p.Pro1509Arg)
n.4969C>G
n.4715C>G
n.4542+13864C>G
 gnomAD v4
2g.227008184G=CA1332723950COL4A4c.245C= (p.Pro82=)
c.4643C= (p.Pro1548=)
c.4088C= (p.Pro1363=)
c.4454C= (p.Pro1485=)
c.4216+13864C= (n.4216+13864C=)
c.4562C= (p.Pro1521=)
c.4535C= (p.Pro1512=)
c.4389C= (p.Ala1463=)
c.4272C= (p.Ala1424=)
c.2969C= (p.Pro990=)
n.4953C=
n.4526+13864C=
c.4526C= (p.Pro1509=)
n.4969C=
n.4715C=
n.4542+13864C=
2g.227008184G>TCA351140782COL4A4c.245C>A (p.Pro82His)
c.4643C>A (p.Pro1548His)
c.4088C>A (p.Pro1363His)
c.4454C>A (p.Pro1485His)
c.4216+13864C>A (n.4216+13864C>A)
c.4562C>A (p.Pro1521His)
c.4535C>A (p.Pro1512His)
c.4389C>A (p.Ala1463=)
c.4272C>A (p.Ala1424=)
c.2969C>A (p.Pro990His)
n.4953C>A
n.4526+13864C>A
c.4526C>A (p.Pro1509His)
n.4969C>A
n.4715C>A
n.4542+13864C>A
2g.227008185G>ACA351140783COL4A4c.244C>T (p.Pro82Ser)
c.4642C>T (p.Pro1548Ser)
c.4087C>T (p.Pro1363Ser)
c.4453C>T (p.Pro1485Ser)
c.4216+13863C>T (n.4216+13863C>T)
c.4561C>T (p.Pro1521Ser)
c.4534C>T (p.Pro1512Ser)
c.4388C>T (p.Ala1463Val)
c.4271C>T (p.Ala1424Val)
c.2968C>T (p.Pro990Ser)
n.4952C>T
n.4526+13863C>T
c.4525C>T (p.Pro1509Ser)
n.4968C>T
n.4714C>T
n.4542+13863C>T
 ClinVar
2g.227008185G>CCA351140784COL4A4c.244C>G (p.Pro82Ala)
c.4642C>G (p.Pro1548Ala)
c.4087C>G (p.Pro1363Ala)
c.4453C>G (p.Pro1485Ala)
c.4216+13863C>G (n.4216+13863C>G)
c.4561C>G (p.Pro1521Ala)
c.4534C>G (p.Pro1512Ala)
c.4388C>G (p.Ala1463Gly)
c.4271C>G (p.Ala1424Gly)
c.2968C>G (p.Pro990Ala)
n.4952C>G
n.4526+13863C>G
c.4525C>G (p.Pro1509Ala)
n.4968C>G
n.4714C>G
n.4542+13863C>G
2g.227008185G>TCA351140785COL4A4c.244C>A (p.Pro82Thr)
c.4642C>A (p.Pro1548Thr)
c.4087C>A (p.Pro1363Thr)
c.4453C>A (p.Pro1485Thr)
c.4216+13863C>A (n.4216+13863C>A)
c.4561C>A (p.Pro1521Thr)
c.4534C>A (p.Pro1512Thr)
c.4388C>A (p.Ala1463Asp)
c.4271C>A (p.Ala1424Asp)
c.2968C>A (p.Pro990Thr)
n.4952C>A
n.4526+13863C>A
c.4525C>A (p.Pro1509Thr)
n.4968C>A
n.4714C>A
n.4542+13863C>A
2g.227008186C>ACA431671936COL4A4c.243G>T (p.Ala81=)
c.4641G>T (p.Ala1547=)
c.4086G>T (p.Ala1362=)
c.4452G>T (p.Ala1484=)
c.4216+13862G>T (n.4216+13862G>T)
c.4560G>T (p.Ala1520=)
c.4533G>T (p.Ala1511=)
c.4387G>T (p.Ala1463Ser)
c.4270G>T (p.Ala1424Ser)
c.2967G>T (p.Ala989=)
n.4951G>T
n.4526+13862G>T
c.4524G>T (p.Ala1508=)
n.4967G>T
n.4713G>T
n.4542+13862G>T
2g.227008186C=CA1332723951COL4A4c.243G= (p.Ala81=)
c.4641G= (p.Ala1547=)
c.4086G= (p.Ala1362=)
c.4452G= (p.Ala1484=)
c.4216+13862G= (n.4216+13862G=)
c.4560G= (p.Ala1520=)
c.4533G= (p.Ala1511=)
c.4387G= (p.Ala1463=)
c.4270G= (p.Ala1424=)
c.2967G= (p.Ala989=)
n.4951G=
n.4526+13862G=
c.4524G= (p.Ala1508=)
n.4967G=
n.4713G=
n.4542+13862G=
2g.227008186C>GCA431671937COL4A4c.243G>C (p.Ala81=)
c.4641G>C (p.Ala1547=)
c.4086G>C (p.Ala1362=)
c.4452G>C (p.Ala1484=)
c.4216+13862G>C (n.4216+13862G>C)
c.4560G>C (p.Ala1520=)
c.4533G>C (p.Ala1511=)
c.4387G>C (p.Ala1463Pro)
c.4270G>C (p.Ala1424Pro)
c.2967G>C (p.Ala989=)
n.4951G>C
n.4526+13862G>C
c.4524G>C (p.Ala1508=)
n.4967G>C
n.4713G>C
n.4542+13862G>C
2g.227008186C>TCA2144110COL4A4c.243G>A (p.Ala81=)
c.4641G>A (p.Ala1547=)
c.4086G>A (p.Ala1362=)
c.4452G>A (p.Ala1484=)
c.4216+13862G>A (n.4216+13862G>A)
c.4560G>A (p.Ala1520=)
c.4533G>A (p.Ala1511=)
c.4387G>A (p.Ala1463Thr)
c.4270G>A (p.Ala1424Thr)
c.2967G>A (p.Ala989=)
n.4951G>A
n.4526+13862G>A
c.4524G>A (p.Ala1508=)
n.4967G>A
n.4713G>A
n.4542+13862G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008187G>ACA2144111COL4A4c.242C>T (p.Ala81Val)
c.4640C>T (p.Ala1547Val)
c.4085C>T (p.Ala1362Val)
c.4451C>T (p.Ala1484Val)
c.4216+13861C>T (n.4216+13861C>T)
c.4559C>T (p.Ala1520Val)
c.4532C>T (p.Ala1511Val)
c.4386C>T (p.Cys1462=)
c.4269C>T (p.Cys1423=)
c.2966C>T (p.Ala989Val)
n.4950C>T
n.4526+13861C>T
c.4523C>T (p.Ala1508Val)
n.4966C>T
n.4712C>T
n.4542+13861C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008187G>CCA351140787COL4A4c.242C>G (p.Ala81Gly)
c.4640C>G (p.Ala1547Gly)
c.4085C>G (p.Ala1362Gly)
c.4451C>G (p.Ala1484Gly)
c.4216+13861C>G (n.4216+13861C>G)
c.4559C>G (p.Ala1520Gly)
c.4532C>G (p.Ala1511Gly)
c.4386C>G (p.Cys1462Trp)
c.4269C>G (p.Cys1423Trp)
c.2966C>G (p.Ala989Gly)
n.4950C>G
n.4526+13861C>G
c.4523C>G (p.Ala1508Gly)
n.4966C>G
n.4712C>G
n.4542+13861C>G
2g.227008187G=CA1332723952COL4A4c.242C= (p.Ala81=)
c.4640C= (p.Ala1547=)
c.4085C= (p.Ala1362=)
c.4451C= (p.Ala1484=)
c.4216+13861C= (n.4216+13861C=)
c.4559C= (p.Ala1520=)
c.4532C= (p.Ala1511=)
c.4386C= (p.Cys1462=)
c.4269C= (p.Cys1423=)
c.2966C= (p.Ala989=)
n.4950C=
n.4526+13861C=
c.4523C= (p.Ala1508=)
n.4966C=
n.4712C=
n.4542+13861C=
2g.227008187G>TCA351140786COL4A4c.242C>A (p.Ala81Glu)
c.4640C>A (p.Ala1547Glu)
c.4085C>A (p.Ala1362Glu)
c.4451C>A (p.Ala1484Glu)
c.4216+13861C>A (n.4216+13861C>A)
c.4559C>A (p.Ala1520Glu)
c.4532C>A (p.Ala1511Glu)
c.4386C>A (p.Cys1462Ter)
c.4269C>A (p.Cys1423Ter)
c.2966C>A (p.Ala989Glu)
n.4950C>A
n.4526+13861C>A
c.4523C>A (p.Ala1508Glu)
n.4966C>A
n.4712C>A
n.4542+13861C>A
2g.227008188C>ACA351140788COL4A4c.241G>T (p.Ala81Ser)
c.4639G>T (p.Ala1547Ser)
c.4084G>T (p.Ala1362Ser)
c.4450G>T (p.Ala1484Ser)
c.4216+13860G>T (n.4216+13860G>T)
c.4558G>T (p.Ala1520Ser)
c.4531G>T (p.Ala1511Ser)
c.4385G>T (p.Cys1462Phe)
c.4268G>T (p.Cys1423Phe)
c.2965G>T (p.Ala989Ser)
n.4949G>T
n.4526+13860G>T
c.4522G>T (p.Ala1508Ser)
n.4965G>T
n.4711G>T
n.4542+13860G>T
 COSMIC
2g.227008188C>GCA351140789COL4A4c.241G>C (p.Ala81Pro)
c.4639G>C (p.Ala1547Pro)
c.4084G>C (p.Ala1362Pro)
c.4450G>C (p.Ala1484Pro)
c.4216+13860G>C (n.4216+13860G>C)
c.4558G>C (p.Ala1520Pro)
c.4531G>C (p.Ala1511Pro)
c.4385G>C (p.Cys1462Ser)
c.4268G>C (p.Cys1423Ser)
c.2965G>C (p.Ala989Pro)
n.4949G>C
n.4526+13860G>C
c.4522G>C (p.Ala1508Pro)
n.4965G>C
n.4711G>C
n.4542+13860G>C
 gnomAD v4
2g.227008188C>TCA351140790COL4A4c.241G>A (p.Ala81Thr)
c.4639G>A (p.Ala1547Thr)
c.4084G>A (p.Ala1362Thr)
c.4450G>A (p.Ala1484Thr)
c.4216+13860G>A (n.4216+13860G>A)
c.4558G>A (p.Ala1520Thr)
c.4531G>A (p.Ala1511Thr)
c.4385G>A (p.Cys1462Tyr)
c.4268G>A (p.Cys1423Tyr)
c.2965G>A (p.Ala989Thr)
n.4949G>A
n.4526+13860G>A
c.4522G>A (p.Ala1508Thr)
n.4965G>A
n.4711G>A
n.4542+13860G>A
2g.227008189A>CCA431671938COL4A4c.240T>G (p.Ala80=)
c.4638T>G (p.Ala1546=)
c.4083T>G (p.Ala1361=)
c.4449T>G (p.Ala1483=)
c.4216+13859T>G (n.4216+13859T>G)
c.4557T>G (p.Ala1519=)
c.4530T>G (p.Ala1510=)
c.4384T>G (p.Cys1462Gly)
c.4267T>G (p.Cys1423Gly)
c.2964T>G (p.Ala988=)
n.4948T>G
n.4526+13859T>G
c.4521T>G (p.Ala1507=)
n.4964T>G
n.4710T>G
n.4542+13859T>G
 gnomAD v4
2g.227008189A>GCA431671939COL4A4c.240T>C (p.Ala80=)
c.4638T>C (p.Ala1546=)
c.4083T>C (p.Ala1361=)
c.4449T>C (p.Ala1483=)
c.4216+13859T>C (n.4216+13859T>C)
c.4557T>C (p.Ala1519=)
c.4530T>C (p.Ala1510=)
c.4384T>C (p.Cys1462Arg)
c.4267T>C (p.Cys1423Arg)
c.2964T>C (p.Ala988=)
n.4948T>C
n.4526+13859T>C
c.4521T>C (p.Ala1507=)
n.4964T>C
n.4710T>C
n.4542+13859T>C
 gnomAD v4
2g.227008189A>TCA431671940COL4A4c.240T>A (p.Ala80=)
c.4638T>A (p.Ala1546=)
c.4083T>A (p.Ala1361=)
c.4449T>A (p.Ala1483=)
c.4216+13859T>A (n.4216+13859T>A)
c.4557T>A (p.Ala1519=)
c.4530T>A (p.Ala1510=)
c.4384T>A (p.Cys1462Ser)
c.4267T>A (p.Cys1423Ser)
c.2964T>A (p.Ala988=)
n.4948T>A
n.4526+13859T>A
c.4521T>A (p.Ala1507=)
n.4964T>A
n.4710T>A
n.4542+13859T>A
2g.227008190G>ACA351140791COL4A4c.239C>T (p.Ala80Val)
c.4637C>T (p.Ala1546Val)
c.4082C>T (p.Ala1361Val)
c.4448C>T (p.Ala1483Val)
c.4216+13858C>T (n.4216+13858C>T)
c.4556C>T (p.Ala1519Val)
c.4529C>T (p.Ala1510Val)
c.4383C>T (p.Arg1461=)
c.4266C>T (p.Arg1422=)
c.2963C>T (p.Ala988Val)
n.4947C>T
n.4526+13858C>T
c.4520C>T (p.Ala1507Val)
n.4963C>T
n.4709C>T
n.4542+13858C>T
2g.227008190G>CCA351140792COL4A4c.239C>G (p.Ala80Gly)
c.4637C>G (p.Ala1546Gly)
c.4082C>G (p.Ala1361Gly)
c.4448C>G (p.Ala1483Gly)
c.4216+13858C>G (n.4216+13858C>G)
c.4556C>G (p.Ala1519Gly)
c.4529C>G (p.Ala1510Gly)
c.4383C>G (p.Arg1461=)
c.4266C>G (p.Arg1422=)
c.2963C>G (p.Ala988Gly)
n.4947C>G
n.4526+13858C>G
c.4520C>G (p.Ala1507Gly)
n.4963C>G
n.4709C>G
n.4542+13858C>G
 gnomAD v4
2g.227008190G>TCA351140793COL4A4c.239C>A (p.Ala80Asp)
c.4637C>A (p.Ala1546Asp)
c.4082C>A (p.Ala1361Asp)
c.4448C>A (p.Ala1483Asp)
c.4216+13858C>A (n.4216+13858C>A)
c.4556C>A (p.Ala1519Asp)
c.4529C>A (p.Ala1510Asp)
c.4383C>A (p.Arg1461=)
c.4266C>A (p.Arg1422=)
c.2963C>A (p.Ala988Asp)
n.4947C>A
n.4526+13858C>A
c.4520C>A (p.Ala1507Asp)
n.4963C>A
n.4709C>A
n.4542+13858C>A
2g.227008192_227008193dupCA2663402742COL4A4c.238_239dup (p.Ala81LeufsTer6)
c.4636_4637dup (p.Ala1547LeufsTer6)
c.4081_4082dup (p.Ala1362LeufsTer6)
c.4447_4448dup (p.Ala1484LeufsTer6)
c.4216+13857_4216+13858dup (n.4216+13857_4216+13858dup)
c.4555_4556dup (p.Ala1520LeufsTer6)
c.4528_4529dup (p.Ala1511LeufsTer6)
c.4382_4383dup (p.Cys1462AlafsTer?)
c.4265_4266dup (p.Cys1423AlafsTer?)
c.2962_2963dup (p.Ala989LeufsTer6)
n.4946_4947dup
n.4526+13857_4526+13858dup
c.4519_4520dup (p.Ala1508LeufsTer6)
n.4962_4963dup
n.4708_4709dup
n.4542+13857_4542+13858dup
 gnomAD v4
2g.227008191C>ACA351140794COL4A4c.238G>T (p.Ala80Ser)
c.4636G>T (p.Ala1546Ser)
c.4081G>T (p.Ala1361Ser)
c.4447G>T (p.Ala1483Ser)
c.4216+13857G>T (n.4216+13857G>T)
c.4555G>T (p.Ala1519Ser)
c.4528G>T (p.Ala1510Ser)
c.4382G>T (p.Arg1461Leu)
c.4265G>T (p.Arg1422Leu)
c.2962G>T (p.Ala988Ser)
n.4946G>T
n.4526+13857G>T
c.4519G>T (p.Ala1507Ser)
n.4962G>T
n.4708G>T
n.4542+13857G>T
 gnomAD v4
2g.227008191C=CA1332723953COL4A4c.238G= (p.Ala80=)
c.4636G= (p.Ala1546=)
c.4081G= (p.Ala1361=)
c.4447G= (p.Ala1483=)
c.4216+13857G= (n.4216+13857G=)
c.4555G= (p.Ala1519=)
c.4528G= (p.Ala1510=)
c.4382G= (p.Arg1461=)
c.4265G= (p.Arg1422=)
c.2962G= (p.Ala988=)
n.4946G=
n.4526+13857G=
c.4519G= (p.Ala1507=)
n.4962G=
n.4708G=
n.4542+13857G=
2g.227008191C>GCA351140795COL4A4c.238G>C (p.Ala80Pro)
c.4636G>C (p.Ala1546Pro)
c.4081G>C (p.Ala1361Pro)
c.4447G>C (p.Ala1483Pro)
c.4216+13857G>C (n.4216+13857G>C)
c.4555G>C (p.Ala1519Pro)
c.4528G>C (p.Ala1510Pro)
c.4382G>C (p.Arg1461Pro)
c.4265G>C (p.Arg1422Pro)
c.2962G>C (p.Ala988Pro)
n.4946G>C
n.4526+13857G>C
c.4519G>C (p.Ala1507Pro)
n.4962G>C
n.4708G>C
n.4542+13857G>C
2g.227008191C>TCA2144112COL4A4c.238G>A (p.Ala80Thr)
c.4636G>A (p.Ala1546Thr)
c.4081G>A (p.Ala1361Thr)
c.4447G>A (p.Ala1483Thr)
c.4216+13857G>A (n.4216+13857G>A)
c.4555G>A (p.Ala1519Thr)
c.4528G>A (p.Ala1510Thr)
c.4382G>A (p.Arg1461His)
c.4265G>A (p.Arg1422His)
c.2962G>A (p.Ala988Thr)
n.4946G>A
n.4526+13857G>A
c.4519G>A (p.Ala1507Thr)
n.4962G>A
n.4708G>A
n.4542+13857G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008192G>ACA2144113COL4A4c.237C>T (p.Ser79=)
c.4635C>T (p.Ser1545=)
c.4080C>T (p.Ser1360=)
c.4446C>T (p.Ser1482=)
c.4216+13856C>T (n.4216+13856C>T)
c.4554C>T (p.Ser1518=)
c.4527C>T (p.Ser1509=)
c.4381C>T (p.Arg1461Cys)
c.4264C>T (p.Arg1422Cys)
c.2961C>T (p.Ser987=)
n.4945C>T
n.4526+13856C>T
c.4518C>T (p.Ser1506=)
n.4961C>T
n.4707C>T
n.4542+13856C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008192G>CCA351140796COL4A4c.237C>G (p.Ser79Arg)
c.4635C>G (p.Ser1545Arg)
c.4080C>G (p.Ser1360Arg)
c.4446C>G (p.Ser1482Arg)
c.4216+13856C>G (n.4216+13856C>G)
c.4554C>G (p.Ser1518Arg)
c.4527C>G (p.Ser1509Arg)
c.4381C>G (p.Arg1461Gly)
c.4264C>G (p.Arg1422Gly)
c.2961C>G (p.Ser987Arg)
n.4945C>G
n.4526+13856C>G
c.4518C>G (p.Ser1506Arg)
n.4961C>G
n.4707C>G
n.4542+13856C>G
2g.227008192G=CA1332723954COL4A4c.237C= (p.Ser79=)
c.4635C= (p.Ser1545=)
c.4080C= (p.Ser1360=)
c.4446C= (p.Ser1482=)
c.4216+13856C= (n.4216+13856C=)
c.4554C= (p.Ser1518=)
c.4527C= (p.Ser1509=)
c.4381C= (p.Arg1461=)
c.4264C= (p.Arg1422=)
c.2961C= (p.Ser987=)
n.4945C=
n.4526+13856C=
c.4518C= (p.Ser1506=)
n.4961C=
n.4707C=
n.4542+13856C=
2g.227008192G>TCA351140797COL4A4c.237C>A (p.Ser79Arg)
c.4635C>A (p.Ser1545Arg)
c.4080C>A (p.Ser1360Arg)
c.4446C>A (p.Ser1482Arg)
c.4216+13856C>A (n.4216+13856C>A)
c.4554C>A (p.Ser1518Arg)
c.4527C>A (p.Ser1509Arg)
c.4381C>A (p.Arg1461Ser)
c.4264C>A (p.Arg1422Ser)
c.2961C>A (p.Ser987Arg)
n.4945C>A
n.4526+13856C>A
c.4518C>A (p.Ser1506Arg)
n.4961C>A
n.4707C>A
n.4542+13856C>A
 gnomAD v4
2g.227008193C>ACA351140800COL4A4c.236G>T (p.Ser79Ile)
c.4634G>T (p.Ser1545Ile)
c.4079G>T (p.Ser1360Ile)
c.4445G>T (p.Ser1482Ile)
c.4216+13855G>T (n.4216+13855G>T)
c.4553G>T (p.Ser1518Ile)
c.4526G>T (p.Ser1509Ile)
c.4380G>T (p.Gln1460His)
c.4263G>T (p.Gln1421His)
c.2960G>T (p.Ser987Ile)
n.4944G>T
n.4526+13855G>T
c.4517G>T (p.Ser1506Ile)
n.4960G>T
n.4706G>T
n.4542+13855G>T
2g.227008193C>GCA351140798COL4A4c.236G>C (p.Ser79Thr)
c.4634G>C (p.Ser1545Thr)
c.4079G>C (p.Ser1360Thr)
c.4445G>C (p.Ser1482Thr)
c.4216+13855G>C (n.4216+13855G>C)
c.4553G>C (p.Ser1518Thr)
c.4526G>C (p.Ser1509Thr)
c.4380G>C (p.Gln1460His)
c.4263G>C (p.Gln1421His)
c.2960G>C (p.Ser987Thr)
n.4944G>C
n.4526+13855G>C
c.4517G>C (p.Ser1506Thr)
n.4960G>C
n.4706G>C
n.4542+13855G>C
2g.227008193C>TCA351140799COL4A4c.236G>A (p.Ser79Asn)
c.4634G>A (p.Ser1545Asn)
c.4079G>A (p.Ser1360Asn)
c.4445G>A (p.Ser1482Asn)
c.4216+13855G>A (n.4216+13855G>A)
c.4553G>A (p.Ser1518Asn)
c.4526G>A (p.Ser1509Asn)
c.4380G>A (p.Gln1460=)
c.4263G>A (p.Gln1421=)
c.2960G>A (p.Ser987Asn)
n.4944G>A
n.4526+13855G>A
c.4517G>A (p.Ser1506Asn)
n.4960G>A
n.4706G>A
n.4542+13855G>A
2g.227008194T>ACA67238299COL4A4c.235A>T (p.Ser79Cys)
c.4633A>T (p.Ser1545Cys)
c.4078A>T (p.Ser1360Cys)
c.4444A>T (p.Ser1482Cys)
c.4216+13854A>T (n.4216+13854A>T)
c.4552A>T (p.Ser1518Cys)
c.4525A>T (p.Ser1509Cys)
c.4379A>T (p.Gln1460Leu)
c.4262A>T (p.Gln1421Leu)
c.2959A>T (p.Ser987Cys)
n.4943A>T
n.4526+13854A>T
c.4516A>T (p.Ser1506Cys)
n.4959A>T
n.4705A>T
n.4542+13854A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008194T>CCA351140801COL4A4c.235A>G (p.Ser79Gly)
c.4633A>G (p.Ser1545Gly)
c.4078A>G (p.Ser1360Gly)
c.4444A>G (p.Ser1482Gly)
c.4216+13854A>G (n.4216+13854A>G)
c.4552A>G (p.Ser1518Gly)
c.4525A>G (p.Ser1509Gly)
c.4379A>G (p.Gln1460Arg)
c.4262A>G (p.Gln1421Arg)
c.2959A>G (p.Ser987Gly)
n.4943A>G
n.4526+13854A>G
c.4516A>G (p.Ser1506Gly)
n.4959A>G
n.4705A>G
n.4542+13854A>G
2g.227008194T>GCA351140802COL4A4c.235A>C (p.Ser79Arg)
c.4633A>C (p.Ser1545Arg)
c.4078A>C (p.Ser1360Arg)
c.4444A>C (p.Ser1482Arg)
c.4216+13854A>C (n.4216+13854A>C)
c.4552A>C (p.Ser1518Arg)
c.4525A>C (p.Ser1509Arg)
c.4379A>C (p.Gln1460Pro)
c.4262A>C (p.Gln1421Pro)
c.2959A>C (p.Ser987Arg)
n.4943A>C
n.4526+13854A>C
c.4516A>C (p.Ser1506Arg)
n.4959A>C
n.4705A>C
n.4542+13854A>C
2g.227008194T=CA1332723955COL4A4c.235A= (p.Ser79=)
c.4633A= (p.Ser1545=)
c.4078A= (p.Ser1360=)
c.4444A= (p.Ser1482=)
c.4216+13854A= (n.4216+13854A=)
c.4552A= (p.Ser1518=)
c.4525A= (p.Ser1509=)
c.4379A= (p.Gln1460=)
c.4262A= (p.Gln1421=)
c.2959A= (p.Ser987=)
n.4943A=
n.4526+13854A=
c.4516A= (p.Ser1506=)
n.4959A=
n.4705A=
n.4542+13854A=
2g.227008195G>ACA431671947COL4A4c.234C>T (p.Ala78=)
c.4632C>T (p.Ala1544=)
c.4077C>T (p.Ala1359=)
c.4443C>T (p.Ala1481=)
c.4216+13853C>T (n.4216+13853C>T)
c.4551C>T (p.Ala1517=)
c.4524C>T (p.Ala1508=)
c.4378C>T (p.Gln1460Ter)
c.4261C>T (p.Gln1421Ter)
c.2958C>T (p.Ala986=)
n.4942C>T
n.4526+13853C>T
c.4515C>T (p.Ala1505=)
n.4958C>T
n.4704C>T
n.4542+13853C>T
2g.227008195G>CCA431671948COL4A4c.234C>G (p.Ala78=)
c.4632C>G (p.Ala1544=)
c.4077C>G (p.Ala1359=)
c.4443C>G (p.Ala1481=)
c.4216+13853C>G (n.4216+13853C>G)
c.4551C>G (p.Ala1517=)
c.4524C>G (p.Ala1508=)
c.4378C>G (p.Gln1460Glu)
c.4261C>G (p.Gln1421Glu)
c.2958C>G (p.Ala986=)
n.4942C>G
n.4526+13853C>G
c.4515C>G (p.Ala1505=)
n.4958C>G
n.4704C>G
n.4542+13853C>G
2g.227008195G>TCA431671949COL4A4c.234C>A (p.Ala78=)
c.4632C>A (p.Ala1544=)
c.4077C>A (p.Ala1359=)
c.4443C>A (p.Ala1481=)
c.4216+13853C>A (n.4216+13853C>A)
c.4551C>A (p.Ala1517=)
c.4524C>A (p.Ala1508=)
c.4378C>A (p.Gln1460Lys)
c.4261C>A (p.Gln1421Lys)
c.2958C>A (p.Ala986=)
n.4942C>A
n.4526+13853C>A
c.4515C>A (p.Ala1505=)
n.4958C>A
n.4704C>A
n.4542+13853C>A
2g.227008195_227008199delinsGGCCACA1332723956COL4A4c.230_234delinsTGGCC (p.Leu77=)
c.4628_4632delinsTGGCC (p.Leu1543=)
c.4073_4077delinsTGGCC (p.Leu1358=)
c.4439_4443delinsTGGCC (p.Leu1480=)
c.4216+13849_4216+13853delinsTGGCC (n.4216+13849_4216+13853delinsTGGCC)
c.4547_4551delinsTGGCC (p.Leu1516=)
c.4520_4524delinsTGGCC (p.Leu1507=)
c.4374_4378delinsTGGCC (p.Ala1458=)
c.4257_4261delinsTGGCC (p.Ala1419=)
c.2954_2958delinsTGGCC (p.Leu985=)
n.4938_4942delinsTGGCC
n.4526+13849_4526+13853delinsTGGCC
c.4511_4515delinsTGGCC (p.Leu1504=)
n.4954_4958delinsTGGCC
n.4700_4704delinsTGGCC
n.4542+13849_4542+13853delinsTGGCC
2g.227008196G>ACA351140803COL4A4c.233C>T (p.Ala78Val)
c.4631C>T (p.Ala1544Val)
c.4076C>T (p.Ala1359Val)
c.4442C>T (p.Ala1481Val)
c.4216+13852C>T (n.4216+13852C>T)
c.4550C>T (p.Ala1517Val)
c.4523C>T (p.Ala1508Val)
c.4377C>T (p.Gly1459=)
c.4260C>T (p.Gly1420=)
c.2957C>T (p.Ala986Val)
n.4941C>T
n.4526+13852C>T
c.4514C>T (p.Ala1505Val)
n.4957C>T
n.4703C>T
n.4542+13852C>T
2g.227008196G>CCA351140804COL4A4c.233C>G (p.Ala78Gly)
c.4631C>G (p.Ala1544Gly)
c.4076C>G (p.Ala1359Gly)
c.4442C>G (p.Ala1481Gly)
c.4216+13852C>G (n.4216+13852C>G)
c.4550C>G (p.Ala1517Gly)
c.4523C>G (p.Ala1508Gly)
c.4377C>G (p.Gly1459=)
c.4260C>G (p.Gly1420=)
c.2957C>G (p.Ala986Gly)
n.4941C>G
n.4526+13852C>G
c.4514C>G (p.Ala1505Gly)
n.4957C>G
n.4703C>G
n.4542+13852C>G
 dbSNP
2g.227008196G=CA1332723957COL4A4c.233C= (p.Ala78=)
c.4631C= (p.Ala1544=)
c.4076C= (p.Ala1359=)
c.4442C= (p.Ala1481=)
c.4216+13852C= (n.4216+13852C=)
c.4550C= (p.Ala1517=)
c.4523C= (p.Ala1508=)
c.4377C= (p.Gly1459=)
c.4260C= (p.Gly1420=)
c.2957C= (p.Ala986=)
n.4941C=
n.4526+13852C=
c.4514C= (p.Ala1505=)
n.4957C=
n.4703C=
n.4542+13852C=
2g.227008196G>TCA351140805COL4A4c.233C>A (p.Ala78Asp)
c.4631C>A (p.Ala1544Asp)
c.4076C>A (p.Ala1359Asp)
c.4442C>A (p.Ala1481Asp)
c.4216+13852C>A (n.4216+13852C>A)
c.4550C>A (p.Ala1517Asp)
c.4523C>A (p.Ala1508Asp)
c.4377C>A (p.Gly1459=)
c.4260C>A (p.Gly1420=)
c.2957C>A (p.Ala986Asp)
n.4941C>A
n.4526+13852C>A
c.4514C>A (p.Ala1505Asp)
n.4957C>A
n.4703C>A
n.4542+13852C>A
 dbSNP gnomAD v3 gnomAD v4
2g.227008201_227008204delCA915941765COL4A4c.230_233del (p.Leu77ProfsTer8)
c.4628_4631del (p.Leu1543ProfsTer8)
c.4073_4076del (p.Leu1358ProfsTer8)
c.4439_4442del (p.Leu1480ProfsTer8)
c.4216+13849_4216+13852del (n.4216+13849_4216+13852del)
c.4547_4550del (p.Leu1516ProfsTer8)
c.4520_4523del (p.Leu1507ProfsTer8)
c.4374_4377del (p.Gly1459SerfsTer?)
c.4257_4260del (p.Gly1420SerfsTer?)
c.2954_2957del (p.Leu985ProfsTer8)
n.4938_4941del
n.4526+13849_4526+13852del
c.4511_4514del (p.Leu1504ProfsTer8)
n.4954_4957del
n.4700_4703del
n.4542+13849_4542+13852del
 ClinVar dbSNP
2g.227008197C>ACA351140806COL4A4c.232G>T (p.Ala78Ser)
c.4630G>T (p.Ala1544Ser)
c.4075G>T (p.Ala1359Ser)
c.4441G>T (p.Ala1481Ser)
c.4216+13851G>T (n.4216+13851G>T)
c.4549G>T (p.Ala1517Ser)
c.4522G>T (p.Ala1508Ser)
c.4376G>T (p.Gly1459Val)
c.4259G>T (p.Gly1420Val)
c.2956G>T (p.Ala986Ser)
n.4940G>T
n.4526+13851G>T
c.4513G>T (p.Ala1505Ser)
n.4956G>T
n.4702G>T
n.4542+13851G>T
2g.227008197C=CA1332723958COL4A4c.232G= (p.Ala78=)
c.4630G= (p.Ala1544=)
c.4075G= (p.Ala1359=)
c.4441G= (p.Ala1481=)
c.4216+13851G= (n.4216+13851G=)
c.4549G= (p.Ala1517=)
c.4522G= (p.Ala1508=)
c.4376G= (p.Gly1459=)
c.4259G= (p.Gly1420=)
c.2956G= (p.Ala986=)
n.4940G=
n.4526+13851G=
c.4513G= (p.Ala1505=)
n.4956G=
n.4702G=
n.4542+13851G=
2g.227008197C>GCA351140807COL4A4c.232G>C (p.Ala78Pro)
c.4630G>C (p.Ala1544Pro)
c.4075G>C (p.Ala1359Pro)
c.4441G>C (p.Ala1481Pro)
c.4216+13851G>C (n.4216+13851G>C)
c.4549G>C (p.Ala1517Pro)
c.4522G>C (p.Ala1508Pro)
c.4376G>C (p.Gly1459Ala)
c.4259G>C (p.Gly1420Ala)
c.2956G>C (p.Ala986Pro)
n.4940G>C
n.4526+13851G>C
c.4513G>C (p.Ala1505Pro)
n.4956G>C
n.4702G>C
n.4542+13851G>C
 gnomAD v4
2g.227008197C>TCA2144114COL4A4c.232G>A (p.Ala78Thr)
c.4630G>A (p.Ala1544Thr)
c.4075G>A (p.Ala1359Thr)
c.4441G>A (p.Ala1481Thr)
c.4216+13851G>A (n.4216+13851G>A)
c.4549G>A (p.Ala1517Thr)
c.4522G>A (p.Ala1508Thr)
c.4376G>A (p.Gly1459Asp)
c.4259G>A (p.Gly1420Asp)
c.2956G>A (p.Ala986Thr)
n.4940G>A
n.4526+13851G>A
c.4513G>A (p.Ala1505Thr)
n.4956G>A
n.4702G>A
n.4542+13851G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008198C>ACA431671953COL4A4c.231G>T (p.Leu77=)
c.4629G>T (p.Leu1543=)
c.4074G>T (p.Leu1358=)
c.4440G>T (p.Leu1480=)
c.4216+13850G>T (n.4216+13850G>T)
c.4548G>T (p.Leu1516=)
c.4521G>T (p.Leu1507=)
c.4375G>T (p.Gly1459Cys)
c.4258G>T (p.Gly1420Cys)
c.2955G>T (p.Leu985=)
n.4939G>T
n.4526+13850G>T
c.4512G>T (p.Leu1504=)
n.4955G>T
n.4701G>T
n.4542+13850G>T
2g.227008198C>GCA431671954COL4A4c.231G>C (p.Leu77=)
c.4629G>C (p.Leu1543=)
c.4074G>C (p.Leu1358=)
c.4440G>C (p.Leu1480=)
c.4216+13850G>C (n.4216+13850G>C)
c.4548G>C (p.Leu1516=)
c.4521G>C (p.Leu1507=)
c.4375G>C (p.Gly1459Arg)
c.4258G>C (p.Gly1420Arg)
c.2955G>C (p.Leu985=)
n.4939G>C
n.4526+13850G>C
c.4512G>C (p.Leu1504=)
n.4955G>C
n.4701G>C
n.4542+13850G>C
2g.227008198C>TCA431671955COL4A4c.231G>A (p.Leu77=)
c.4629G>A (p.Leu1543=)
c.4074G>A (p.Leu1358=)
c.4440G>A (p.Leu1480=)
c.4216+13850G>A (n.4216+13850G>A)
c.4548G>A (p.Leu1516=)
c.4521G>A (p.Leu1507=)
c.4375G>A (p.Gly1459Ser)
c.4258G>A (p.Gly1420Ser)
c.2955G>A (p.Leu985=)
n.4939G>A
n.4526+13850G>A
c.4512G>A (p.Leu1504=)
n.4955G>A
n.4701G>A
n.4542+13850G>A
2g.227008199A>CCA351140808COL4A4c.230T>G (p.Leu77Arg)
c.4628T>G (p.Leu1543Arg)
c.4073T>G (p.Leu1358Arg)
c.4439T>G (p.Leu1480Arg)
c.4216+13849T>G (n.4216+13849T>G)
c.4547T>G (p.Leu1516Arg)
c.4520T>G (p.Leu1507Arg)
c.4374T>G (p.Ala1458=)
c.4257T>G (p.Ala1419=)
c.2954T>G (p.Leu985Arg)
n.4938T>G
n.4526+13849T>G
c.4511T>G (p.Leu1504Arg)
n.4954T>G
n.4700T>G
n.4542+13849T>G
2g.227008199A>GCA351140809COL4A4c.230T>C (p.Leu77Pro)
c.4628T>C (p.Leu1543Pro)
c.4073T>C (p.Leu1358Pro)
c.4439T>C (p.Leu1480Pro)
c.4216+13849T>C (n.4216+13849T>C)
c.4547T>C (p.Leu1516Pro)
c.4520T>C (p.Leu1507Pro)
c.4374T>C (p.Ala1458=)
c.4257T>C (p.Ala1419=)
c.2954T>C (p.Leu985Pro)
n.4938T>C
n.4526+13849T>C
c.4511T>C (p.Leu1504Pro)
n.4954T>C
n.4700T>C
n.4542+13849T>C
2g.227008199A>TCA351140810COL4A4c.230T>A (p.Leu77Gln)
c.4628T>A (p.Leu1543Gln)
c.4073T>A (p.Leu1358Gln)
c.4439T>A (p.Leu1480Gln)
c.4216+13849T>A (n.4216+13849T>A)
c.4547T>A (p.Leu1516Gln)
c.4520T>A (p.Leu1507Gln)
c.4374T>A (p.Ala1458=)
c.4257T>A (p.Ala1419=)
c.2954T>A (p.Leu985Gln)
n.4938T>A
n.4526+13849T>A
c.4511T>A (p.Leu1504Gln)
n.4954T>A
n.4700T>A
n.4542+13849T>A
 gnomAD v4
2g.227008200G>ACA431671956COL4A4c.229C>T (p.Leu77=)
c.4627C>T (p.Leu1543=)
c.4072C>T (p.Leu1358=)
c.4438C>T (p.Leu1480=)
c.4216+13848C>T (n.4216+13848C>T)
c.4546C>T (p.Leu1516=)
c.4519C>T (p.Leu1507=)
c.4373C>T (p.Ala1458Val)
c.4256C>T (p.Ala1419Val)
c.2953C>T (p.Leu985=)
n.4937C>T
n.4526+13848C>T
c.4510C>T (p.Leu1504=)
n.4953C>T
n.4699C>T
n.4542+13848C>T
2g.227008200G>CCA351140811COL4A4c.229C>G (p.Leu77Val)
c.4627C>G (p.Leu1543Val)
c.4072C>G (p.Leu1358Val)
c.4438C>G (p.Leu1480Val)
c.4216+13848C>G (n.4216+13848C>G)
c.4546C>G (p.Leu1516Val)
c.4519C>G (p.Leu1507Val)
c.4373C>G (p.Ala1458Gly)
c.4256C>G (p.Ala1419Gly)
c.2953C>G (p.Leu985Val)
n.4937C>G
n.4526+13848C>G
c.4510C>G (p.Leu1504Val)
n.4953C>G
n.4699C>G
n.4542+13848C>G
2g.227008200G>TCA351140812COL4A4c.229C>A (p.Leu77Met)
c.4627C>A (p.Leu1543Met)
c.4072C>A (p.Leu1358Met)
c.4438C>A (p.Leu1480Met)
c.4216+13848C>A (n.4216+13848C>A)
c.4546C>A (p.Leu1516Met)
c.4519C>A (p.Leu1507Met)
c.4373C>A (p.Ala1458Asp)
c.4256C>A (p.Ala1419Asp)
c.2953C>A (p.Leu985Met)
n.4937C>A
n.4526+13848C>A
c.4510C>A (p.Leu1504Met)
n.4953C>A
n.4699C>A
n.4542+13848C>A
2g.227008201C>ACA351140813COL4A4c.228G>T (p.Trp76Cys)
c.4626G>T (p.Trp1542Cys)
c.4071G>T (p.Trp1357Cys)
c.4437G>T (p.Trp1479Cys)
c.4216+13847G>T (n.4216+13847G>T)
c.4545G>T (p.Trp1515Cys)
c.4518G>T (p.Trp1506Cys)
c.4372G>T (p.Ala1458Ser)
c.4255G>T (p.Ala1419Ser)
c.2952G>T (p.Trp984Cys)
n.4936G>T
n.4526+13847G>T
c.4509G>T (p.Trp1503Cys)
n.4952G>T
n.4698G>T
n.4542+13847G>T
2g.227008201C>GCA351140815COL4A4c.228G>C (p.Trp76Cys)
c.4626G>C (p.Trp1542Cys)
c.4071G>C (p.Trp1357Cys)
c.4437G>C (p.Trp1479Cys)
c.4216+13847G>C (n.4216+13847G>C)
c.4545G>C (p.Trp1515Cys)
c.4518G>C (p.Trp1506Cys)
c.4372G>C (p.Ala1458Pro)
c.4255G>C (p.Ala1419Pro)
c.2952G>C (p.Trp984Cys)
n.4936G>C
n.4526+13847G>C
c.4509G>C (p.Trp1503Cys)
n.4952G>C
n.4698G>C
n.4542+13847G>C
2g.227008201C>TCA351140814COL4A4c.228G>A (p.Trp76Ter)
c.4626G>A (p.Trp1542Ter)
c.4071G>A (p.Trp1357Ter)
c.4437G>A (p.Trp1479Ter)
c.4216+13847G>A (n.4216+13847G>A)
c.4545G>A (p.Trp1515Ter)
c.4518G>A (p.Trp1506Ter)
c.4372G>A (p.Ala1458Thr)
c.4255G>A (p.Ala1419Thr)
c.2952G>A (p.Trp984Ter)
n.4936G>A
n.4526+13847G>A
c.4509G>A (p.Trp1503Ter)
n.4952G>A
n.4698G>A
n.4542+13847G>A
2g.227008202C>ACA351140816COL4A4c.227G>T (p.Trp76Leu)
c.4625G>T (p.Trp1542Leu)
c.4070G>T (p.Trp1357Leu)
c.4436G>T (p.Trp1479Leu)
c.4216+13846G>T (n.4216+13846G>T)
c.4544G>T (p.Trp1515Leu)
c.4517G>T (p.Trp1506Leu)
c.4371G>T (p.Leu1457=)
c.4254G>T (p.Leu1418=)
c.2951G>T (p.Trp984Leu)
n.4935G>T
n.4526+13846G>T
c.4508G>T (p.Trp1503Leu)
n.4951G>T
n.4697G>T
n.4542+13846G>T
2g.227008202C=CA1332723959COL4A4c.227G= (p.Trp76=)
c.4625G= (p.Trp1542=)
c.4070G= (p.Trp1357=)
c.4436G= (p.Trp1479=)
c.4216+13846G= (n.4216+13846G=)
c.4544G= (p.Trp1515=)
c.4517G= (p.Trp1506=)
c.4371G= (p.Leu1457=)
c.4254G= (p.Leu1418=)
c.2951G= (p.Trp984=)
n.4935G=
n.4526+13846G=
c.4508G= (p.Trp1503=)
n.4951G=
n.4697G=
n.4542+13846G=
2g.227008202C>GCA351140817COL4A4c.227G>C (p.Trp76Ser)
c.4625G>C (p.Trp1542Ser)
c.4070G>C (p.Trp1357Ser)
c.4436G>C (p.Trp1479Ser)
c.4216+13846G>C (n.4216+13846G>C)
c.4544G>C (p.Trp1515Ser)
c.4517G>C (p.Trp1506Ser)
c.4371G>C (p.Leu1457=)
c.4254G>C (p.Leu1418=)
c.2951G>C (p.Trp984Ser)
n.4935G>C
n.4526+13846G>C
c.4508G>C (p.Trp1503Ser)
n.4951G>C
n.4697G>C
n.4542+13846G>C
2g.227008202C>TCA351140818COL4A4c.227G>A (p.Trp76Ter)
c.4625G>A (p.Trp1542Ter)
c.4070G>A (p.Trp1357Ter)
c.4436G>A (p.Trp1479Ter)
c.4216+13846G>A (n.4216+13846G>A)
c.4544G>A (p.Trp1515Ter)
c.4517G>A (p.Trp1506Ter)
c.4371G>A (p.Leu1457=)
c.4254G>A (p.Leu1418=)
c.2951G>A (p.Trp984Ter)
n.4935G>A
n.4526+13846G>A
c.4508G>A (p.Trp1503Ter)
n.4951G>A
n.4697G>A
n.4542+13846G>A
 ClinVar
2g.227008203A=CA1332723960COL4A4c.226T= (p.Trp76=)
c.4624T= (p.Trp1542=)
c.4069T= (p.Trp1357=)
c.4435T= (p.Trp1479=)
c.4216+13845T= (n.4216+13845T=)
c.4543T= (p.Trp1515=)
c.4516T= (p.Trp1506=)
c.4370T= (p.Leu1457=)
c.4253T= (p.Leu1418=)
c.2950T= (p.Trp984=)
n.4934T=
n.4526+13845T=
c.4507T= (p.Trp1503=)
n.4950T=
n.4696T=
n.4542+13845T=
2g.227008203A>CCA351140819COL4A4c.226T>G (p.Trp76Gly)
c.4624T>G (p.Trp1542Gly)
c.4069T>G (p.Trp1357Gly)
c.4435T>G (p.Trp1479Gly)
c.4216+13845T>G (n.4216+13845T>G)
c.4543T>G (p.Trp1515Gly)
c.4516T>G (p.Trp1506Gly)
c.4370T>G (p.Leu1457Arg)
c.4253T>G (p.Leu1418Arg)
c.2950T>G (p.Trp984Gly)
n.4934T>G
n.4526+13845T>G
c.4507T>G (p.Trp1503Gly)
n.4950T>G
n.4696T>G
n.4542+13845T>G
2g.227008203A>GCA351140820COL4A4c.226T>C (p.Trp76Arg)
c.4624T>C (p.Trp1542Arg)
c.4069T>C (p.Trp1357Arg)
c.4435T>C (p.Trp1479Arg)
c.4216+13845T>C (n.4216+13845T>C)
c.4543T>C (p.Trp1515Arg)
c.4516T>C (p.Trp1506Arg)
c.4370T>C (p.Leu1457Pro)
c.4253T>C (p.Leu1418Pro)
c.2950T>C (p.Trp984Arg)
n.4934T>C
n.4526+13845T>C
c.4507T>C (p.Trp1503Arg)
n.4950T>C
n.4696T>C
n.4542+13845T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227008203A>TCA351140821COL4A4c.226T>A (p.Trp76Arg)
c.4624T>A (p.Trp1542Arg)
c.4069T>A (p.Trp1357Arg)
c.4435T>A (p.Trp1479Arg)
c.4216+13845T>A (n.4216+13845T>A)
c.4543T>A (p.Trp1515Arg)
c.4516T>A (p.Trp1506Arg)
c.4370T>A (p.Leu1457Gln)
c.4253T>A (p.Leu1418Gln)
c.2950T>A (p.Trp984Arg)
n.4934T>A
n.4526+13845T>A
c.4507T>A (p.Trp1503Arg)
n.4950T>A
n.4696T>A
n.4542+13845T>A
2g.227008203_227008206dupCA658821839COL4A4c.223_226dup (p.Trp76LeufsTer16)
c.4621_4624dup (p.Trp1542LeufsTer16)
c.4066_4069dup (p.Trp1357LeufsTer16)
c.4432_4435dup (p.Trp1479LeufsTer16)
c.4216+13842_4216+13845dup (n.4216+13842_4216+13845dup)
c.4540_4543dup (p.Trp1515LeufsTer16)
c.4513_4516dup (p.Trp1506LeufsTer16)
c.4367_4370dup (p.Ala1458ThrfsTer11)
c.4250_4253dup (p.Ala1419ThrfsTer11)
c.2947_2950dup (p.Trp984LeufsTer16)
n.4931_4934dup
n.4526+13842_4526+13845dup
c.4504_4507dup (p.Trp1503LeufsTer16)
n.4947_4950dup
n.4693_4696dup
n.4542+13842_4542+13845dup
 ClinVar dbSNP gnomAD v4
2g.227008204G>ACA431671959COL4A4c.225C>T (p.Tyr75=)
c.4623C>T (p.Tyr1541=)
c.4068C>T (p.Tyr1356=)
c.4434C>T (p.Tyr1478=)
c.4216+13844C>T (n.4216+13844C>T)
c.4542C>T (p.Tyr1514=)
c.4515C>T (p.Tyr1505=)
c.4369C>T (p.Leu1457=)
c.4252C>T (p.Leu1418=)
c.2949C>T (p.Tyr983=)
n.4933C>T
n.4526+13844C>T
c.4506C>T (p.Tyr1502=)
n.4949C>T
n.4695C>T
n.4542+13844C>T
2g.227008204G>CCA67238300COL4A4c.225C>G (p.Tyr75Ter)
c.4623C>G (p.Tyr1541Ter)
c.4068C>G (p.Tyr1356Ter)
c.4434C>G (p.Tyr1478Ter)
c.4216+13844C>G (n.4216+13844C>G)
c.4542C>G (p.Tyr1514Ter)
c.4515C>G (p.Tyr1505Ter)
c.4369C>G (p.Leu1457Val)
c.4252C>G (p.Leu1418Val)
c.2949C>G (p.Tyr983Ter)
n.4933C>G
n.4526+13844C>G
c.4506C>G (p.Tyr1502Ter)
n.4949C>G
n.4695C>G
n.4542+13844C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008204G=CA1332723961COL4A4c.225C= (p.Tyr75=)
c.4623C= (p.Tyr1541=)
c.4068C= (p.Tyr1356=)
c.4434C= (p.Tyr1478=)
c.4216+13844C= (n.4216+13844C=)
c.4542C= (p.Tyr1514=)
c.4515C= (p.Tyr1505=)
c.4369C= (p.Leu1457=)
c.4252C= (p.Leu1418=)
c.2949C= (p.Tyr983=)
n.4933C=
n.4526+13844C=
c.4506C= (p.Tyr1502=)
n.4949C=
n.4695C=
n.4542+13844C=
2g.227008204G>TCA351140822COL4A4c.225C>A (p.Tyr75Ter)
c.4623C>A (p.Tyr1541Ter)
c.4068C>A (p.Tyr1356Ter)
c.4434C>A (p.Tyr1478Ter)
c.4216+13844C>A (n.4216+13844C>A)
c.4542C>A (p.Tyr1514Ter)
c.4515C>A (p.Tyr1505Ter)
c.4369C>A (p.Leu1457Met)
c.4252C>A (p.Leu1418Met)
c.2949C>A (p.Tyr983Ter)
n.4933C>A
n.4526+13844C>A
c.4506C>A (p.Tyr1502Ter)
n.4949C>A
n.4695C>A
n.4542+13844C>A
2g.227008205T>ACA351140823COL4A4c.224A>T (p.Tyr75Phe)
c.4622A>T (p.Tyr1541Phe)
c.4067A>T (p.Tyr1356Phe)
c.4433A>T (p.Tyr1478Phe)
c.4216+13843A>T (n.4216+13843A>T)
c.4541A>T (p.Tyr1514Phe)
c.4514A>T (p.Tyr1505Phe)
c.4368A>T (p.Leu1456=)
c.4251A>T (p.Leu1417=)
c.2948A>T (p.Tyr983Phe)
n.4932A>T
n.4526+13843A>T
c.4505A>T (p.Tyr1502Phe)
n.4948A>T
n.4694A>T
n.4542+13843A>T
2g.227008205T>CCA351140824COL4A4c.224A>G (p.Tyr75Cys)
c.4622A>G (p.Tyr1541Cys)
c.4067A>G (p.Tyr1356Cys)
c.4433A>G (p.Tyr1478Cys)
c.4216+13843A>G (n.4216+13843A>G)
c.4541A>G (p.Tyr1514Cys)
c.4514A>G (p.Tyr1505Cys)
c.4368A>G (p.Leu1456=)
c.4251A>G (p.Leu1417=)
c.2948A>G (p.Tyr983Cys)
n.4932A>G
n.4526+13843A>G
c.4505A>G (p.Tyr1502Cys)
n.4948A>G
n.4694A>G
n.4542+13843A>G
2g.227008205T>GCA351140825COL4A4c.224A>C (p.Tyr75Ser)
c.4622A>C (p.Tyr1541Ser)
c.4067A>C (p.Tyr1356Ser)
c.4433A>C (p.Tyr1478Ser)
c.4216+13843A>C (n.4216+13843A>C)
c.4541A>C (p.Tyr1514Ser)
c.4514A>C (p.Tyr1505Ser)
c.4368A>C (p.Leu1456=)
c.4251A>C (p.Leu1417=)
c.2948A>C (p.Tyr983Ser)
n.4932A>C
n.4526+13843A>C
c.4505A>C (p.Tyr1502Ser)
n.4948A>C
n.4694A>C
n.4542+13843A>C
2g.227008206A>CCA351140828COL4A4c.223T>G (p.Tyr75Asp)
c.4621T>G (p.Tyr1541Asp)
c.4066T>G (p.Tyr1356Asp)
c.4432T>G (p.Tyr1478Asp)
c.4216+13842T>G (n.4216+13842T>G)
c.4540T>G (p.Tyr1514Asp)
c.4513T>G (p.Tyr1505Asp)
c.4367T>G (p.Leu1456Arg)
c.4250T>G (p.Leu1417Arg)
c.2947T>G (p.Tyr983Asp)
n.4931T>G
n.4526+13842T>G
c.4504T>G (p.Tyr1502Asp)
n.4947T>G
n.4693T>G
n.4542+13842T>G
2g.227008206A>GCA351140827COL4A4c.223T>C (p.Tyr75His)
c.4621T>C (p.Tyr1541His)
c.4066T>C (p.Tyr1356His)
c.4432T>C (p.Tyr1478His)
c.4216+13842T>C (n.4216+13842T>C)
c.4540T>C (p.Tyr1514His)
c.4513T>C (p.Tyr1505His)
c.4367T>C (p.Leu1456Pro)
c.4250T>C (p.Leu1417Pro)
c.2947T>C (p.Tyr983His)
n.4931T>C
n.4526+13842T>C
c.4504T>C (p.Tyr1502His)
n.4947T>C
n.4693T>C
n.4542+13842T>C
2g.227008206A>TCA351140826COL4A4c.223T>A (p.Tyr75Asn)
c.4621T>A (p.Tyr1541Asn)
c.4066T>A (p.Tyr1356Asn)
c.4432T>A (p.Tyr1478Asn)
c.4216+13842T>A (n.4216+13842T>A)
c.4540T>A (p.Tyr1514Asn)
c.4513T>A (p.Tyr1505Asn)
c.4367T>A (p.Leu1456Gln)
c.4250T>A (p.Leu1417Gln)
c.2947T>A (p.Tyr983Asn)
n.4931T>A
n.4526+13842T>A
c.4504T>A (p.Tyr1502Asn)
n.4947T>A
n.4693T>A
n.4542+13842T>A
2g.227008207G>ACA431671963COL4A4c.222C>T (p.Ser74=)
c.4620C>T (p.Ser1540=)
c.4065C>T (p.Ser1355=)
c.4431C>T (p.Ser1477=)
c.4216+13841C>T (n.4216+13841C>T)
c.4539C>T (p.Ser1513=)
c.4512C>T (p.Ser1504=)
c.4366C>T (p.Leu1456=)
c.4249C>T (p.Leu1417=)
c.2946C>T (p.Ser982=)
n.4930C>T
n.4526+13841C>T
c.4503C>T (p.Ser1501=)
n.4946C>T
n.4692C>T
n.4542+13841C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008207G>CCA431671964COL4A4c.222C>G (p.Ser74=)
c.4620C>G (p.Ser1540=)
c.4065C>G (p.Ser1355=)
c.4431C>G (p.Ser1477=)
c.4216+13841C>G (n.4216+13841C>G)
c.4539C>G (p.Ser1513=)
c.4512C>G (p.Ser1504=)
c.4366C>G (p.Leu1456Val)
c.4249C>G (p.Leu1417Val)
c.2946C>G (p.Ser982=)
n.4930C>G
n.4526+13841C>G
c.4503C>G (p.Ser1501=)
n.4946C>G
n.4692C>G
n.4542+13841C>G
2g.227008207G=CA1332723962COL4A4c.222C= (p.Ser74=)
c.4620C= (p.Ser1540=)
c.4065C= (p.Ser1355=)
c.4431C= (p.Ser1477=)
c.4216+13841C= (n.4216+13841C=)
c.4539C= (p.Ser1513=)
c.4512C= (p.Ser1504=)
c.4366C= (p.Leu1456=)
c.4249C= (p.Leu1417=)
c.2946C= (p.Ser982=)
n.4930C=
n.4526+13841C=
c.4503C= (p.Ser1501=)
n.4946C=
n.4692C=
n.4542+13841C=
2g.227008207G>TCA431671965COL4A4c.222C>A (p.Ser74=)
c.4620C>A (p.Ser1540=)
c.4065C>A (p.Ser1355=)
c.4431C>A (p.Ser1477=)
c.4216+13841C>A (n.4216+13841C>A)
c.4539C>A (p.Ser1513=)
c.4512C>A (p.Ser1504=)
c.4366C>A (p.Leu1456Ile)
c.4249C>A (p.Leu1417Ile)
c.2946C>A (p.Ser982=)
n.4930C>A
n.4526+13841C>A
c.4503C>A (p.Ser1501=)
n.4946C>A
n.4692C>A
n.4542+13841C>A
2g.227008208G>ACA351140829COL4A4c.221C>T (p.Ser74Phe)
c.4619C>T (p.Ser1540Phe)
c.4064C>T (p.Ser1355Phe)
c.4430C>T (p.Ser1477Phe)
c.4216+13840C>T (n.4216+13840C>T)
c.4538C>T (p.Ser1513Phe)
c.4511C>T (p.Ser1504Phe)
c.4365C>T (p.Ile1455=)
c.4248C>T (p.Ile1416=)
c.2945C>T (p.Ser982Phe)
n.4929C>T
n.4526+13840C>T
c.4502C>T (p.Ser1501Phe)
n.4945C>T
n.4691C>T
n.4542+13840C>T
2g.227008208G>CCA351140830COL4A4c.221C>G (p.Ser74Cys)
c.4619C>G (p.Ser1540Cys)
c.4064C>G (p.Ser1355Cys)
c.4430C>G (p.Ser1477Cys)
c.4216+13840C>G (n.4216+13840C>G)
c.4538C>G (p.Ser1513Cys)
c.4511C>G (p.Ser1504Cys)
c.4365C>G (p.Ile1455Met)
c.4248C>G (p.Ile1416Met)
c.2945C>G (p.Ser982Cys)
n.4929C>G
n.4526+13840C>G
c.4502C>G (p.Ser1501Cys)
n.4945C>G
n.4691C>G
n.4542+13840C>G
2g.227008208G>TCA351140831COL4A4c.221C>A (p.Ser74Tyr)
c.4619C>A (p.Ser1540Tyr)
c.4064C>A (p.Ser1355Tyr)
c.4430C>A (p.Ser1477Tyr)
c.4216+13840C>A (n.4216+13840C>A)
c.4538C>A (p.Ser1513Tyr)
c.4511C>A (p.Ser1504Tyr)
c.4365C>A (p.Ile1455=)
c.4248C>A (p.Ile1416=)
c.2945C>A (p.Ser982Tyr)
n.4929C>A
n.4526+13840C>A
c.4502C>A (p.Ser1501Tyr)
n.4945C>A
n.4691C>A
n.4542+13840C>A
2g.227008209A>CCA351140832COL4A4c.220T>G (p.Ser74Ala)
c.4618T>G (p.Ser1540Ala)
c.4063T>G (p.Ser1355Ala)
c.4429T>G (p.Ser1477Ala)
c.4216+13839T>G (n.4216+13839T>G)
c.4537T>G (p.Ser1513Ala)
c.4510T>G (p.Ser1504Ala)
c.4364T>G (p.Ile1455Ser)
c.4247T>G (p.Ile1416Ser)
c.2944T>G (p.Ser982Ala)
n.4928T>G
n.4526+13839T>G
c.4501T>G (p.Ser1501Ala)
n.4944T>G
n.4690T>G
n.4542+13839T>G
2g.227008209A>GCA351140833COL4A4c.220T>C (p.Ser74Pro)
c.4618T>C (p.Ser1540Pro)
c.4063T>C (p.Ser1355Pro)
c.4429T>C (p.Ser1477Pro)
c.4216+13839T>C (n.4216+13839T>C)
c.4537T>C (p.Ser1513Pro)
c.4510T>C (p.Ser1504Pro)
c.4364T>C (p.Ile1455Thr)
c.4247T>C (p.Ile1416Thr)
c.2944T>C (p.Ser982Pro)
n.4928T>C
n.4526+13839T>C
c.4501T>C (p.Ser1501Pro)
n.4944T>C
n.4690T>C
n.4542+13839T>C
2g.227008209A>TCA351140834COL4A4c.220T>A (p.Ser74Thr)
c.4618T>A (p.Ser1540Thr)
c.4063T>A (p.Ser1355Thr)
c.4429T>A (p.Ser1477Thr)
c.4216+13839T>A (n.4216+13839T>A)
c.4537T>A (p.Ser1513Thr)
c.4510T>A (p.Ser1504Thr)
c.4364T>A (p.Ile1455Asn)
c.4247T>A (p.Ile1416Asn)
c.2944T>A (p.Ser982Thr)
n.4928T>A
n.4526+13839T>A
c.4501T>A (p.Ser1501Thr)
n.4944T>A
n.4690T>A
n.4542+13839T>A
2g.227008210T>ACA351140835COL4A4c.219A>T (p.Arg73Ser)
c.4617A>T (p.Arg1539Ser)
c.4062A>T (p.Arg1354Ser)
c.4428A>T (p.Arg1476Ser)
c.4216+13838A>T (n.4216+13838A>T)
c.4536A>T (p.Arg1512Ser)
c.4509A>T (p.Arg1503Ser)
c.4363A>T (p.Ile1455Phe)
c.4246A>T (p.Ile1416Phe)
c.2943A>T (p.Arg981Ser)
n.4927A>T
n.4526+13838A>T
c.4500A>T (p.Arg1500Ser)
n.4943A>T
n.4689A>T
n.4542+13838A>T
2g.227008210T>CCA431671969COL4A4c.219A>G (p.Arg73=)
c.4617A>G (p.Arg1539=)
c.4062A>G (p.Arg1354=)
c.4428A>G (p.Arg1476=)
c.4216+13838A>G (n.4216+13838A>G)
c.4536A>G (p.Arg1512=)
c.4509A>G (p.Arg1503=)
c.4363A>G (p.Ile1455Val)
c.4246A>G (p.Ile1416Val)
c.2943A>G (p.Arg981=)
n.4927A>G
n.4526+13838A>G
c.4500A>G (p.Arg1500=)
n.4943A>G
n.4689A>G
n.4542+13838A>G
 COSMIC
2g.227008210T>GCA351140836COL4A4c.219A>C (p.Arg73Ser)
c.4617A>C (p.Arg1539Ser)
c.4062A>C (p.Arg1354Ser)
c.4428A>C (p.Arg1476Ser)
c.4216+13838A>C (n.4216+13838A>C)
c.4536A>C (p.Arg1512Ser)
c.4509A>C (p.Arg1503Ser)
c.4363A>C (p.Ile1455Leu)
c.4246A>C (p.Ile1416Leu)
c.2943A>C (p.Arg981Ser)
n.4927A>C
n.4526+13838A>C
c.4500A>C (p.Arg1500Ser)
n.4943A>C
n.4689A>C
n.4542+13838A>C
2g.227008211C>ACA351140837COL4A4c.218G>T (p.Arg73Ile)
c.4616G>T (p.Arg1539Ile)
c.4061G>T (p.Arg1354Ile)
c.4427G>T (p.Arg1476Ile)
c.4216+13837G>T (n.4216+13837G>T)
c.4535G>T (p.Arg1512Ile)
c.4508G>T (p.Arg1503Ile)
c.4362G>T (p.Gln1454His)
c.4245G>T (p.Gln1415His)
c.2942G>T (p.Arg981Ile)
n.4926G>T
n.4526+13837G>T
c.4499G>T (p.Arg1500Ile)
n.4942G>T
n.4688G>T
n.4542+13837G>T
 gnomAD v4
2g.227008211C=CA1332723963COL4A4c.218G= (p.Arg73=)
c.4616G= (p.Arg1539=)
c.4061G= (p.Arg1354=)
c.4427G= (p.Arg1476=)
c.4216+13837G= (n.4216+13837G=)
c.4535G= (p.Arg1512=)
c.4508G= (p.Arg1503=)
c.4362G= (p.Gln1454=)
c.4245G= (p.Gln1415=)
c.2942G= (p.Arg981=)
n.4926G=
n.4526+13837G=
c.4499G= (p.Arg1500=)
n.4942G=
n.4688G=
n.4542+13837G=
2g.227008211C>GCA351140838COL4A4c.218G>C (p.Arg73Thr)
c.4616G>C (p.Arg1539Thr)
c.4061G>C (p.Arg1354Thr)
c.4427G>C (p.Arg1476Thr)
c.4216+13837G>C (n.4216+13837G>C)
c.4535G>C (p.Arg1512Thr)
c.4508G>C (p.Arg1503Thr)
c.4362G>C (p.Gln1454His)
c.4245G>C (p.Gln1415His)
c.2942G>C (p.Arg981Thr)
n.4926G>C
n.4526+13837G>C
c.4499G>C (p.Arg1500Thr)
n.4942G>C
n.4688G>C
n.4542+13837G>C
2g.227008211C>TCA351140839COL4A4c.218G>A (p.Arg73Lys)
c.4616G>A (p.Arg1539Lys)
c.4061G>A (p.Arg1354Lys)
c.4427G>A (p.Arg1476Lys)
c.4216+13837G>A (n.4216+13837G>A)
c.4535G>A (p.Arg1512Lys)
c.4508G>A (p.Arg1503Lys)
c.4362G>A (p.Gln1454=)
c.4245G>A (p.Gln1415=)
c.2942G>A (p.Arg981Lys)
n.4926G>A
n.4526+13837G>A
c.4499G>A (p.Arg1500Lys)
n.4942G>A
n.4688G>A
n.4542+13837G>A
 dbSNP gnomAD v3 gnomAD v4
2g.227008212T>ACA351140840COL4A4c.217A>T (p.Arg73Ter)
c.4615A>T (p.Arg1539Ter)
c.4060A>T (p.Arg1354Ter)
c.4426A>T (p.Arg1476Ter)
c.4216+13836A>T (n.4216+13836A>T)
c.4534A>T (p.Arg1512Ter)
c.4507A>T (p.Arg1503Ter)
c.4361A>T (p.Gln1454Leu)
c.4244A>T (p.Gln1415Leu)
c.2941A>T (p.Arg981Ter)
n.4925A>T
n.4526+13836A>T
c.4498A>T (p.Arg1500Ter)
n.4941A>T
n.4687A>T
n.4542+13836A>T
2g.227008212T>CCA351140841COL4A4c.217A>G (p.Arg73Gly)
c.4615A>G (p.Arg1539Gly)
c.4060A>G (p.Arg1354Gly)
c.4426A>G (p.Arg1476Gly)
c.4216+13836A>G (n.4216+13836A>G)
c.4534A>G (p.Arg1512Gly)
c.4507A>G (p.Arg1503Gly)
c.4361A>G (p.Gln1454Arg)
c.4244A>G (p.Gln1415Arg)
c.2941A>G (p.Arg981Gly)
n.4925A>G
n.4526+13836A>G
c.4498A>G (p.Arg1500Gly)
n.4941A>G
n.4687A>G
n.4542+13836A>G
2g.227008212T>GCA431671973COL4A4c.217A>C (p.Arg73=)
c.4615A>C (p.Arg1539=)
c.4060A>C (p.Arg1354=)
c.4426A>C (p.Arg1476=)
c.4216+13836A>C (n.4216+13836A>C)
c.4534A>C (p.Arg1512=)
c.4507A>C (p.Arg1503=)
c.4361A>C (p.Gln1454Pro)
c.4244A>C (p.Gln1415Pro)
c.2941A>C (p.Arg981=)
n.4925A>C
n.4526+13836A>C
c.4498A>C (p.Arg1500=)
n.4941A>C
n.4687A>C
n.4542+13836A>C
2g.227008213G>ACA431671974COL4A4c.216C>T (p.Asp72=)
c.4614C>T (p.Asp1538=)
c.4059C>T (p.Asp1353=)
c.4425C>T (p.Asp1475=)
c.4216+13835C>T (n.4216+13835C>T)
c.4533C>T (p.Asp1511=)
c.4506C>T (p.Asp1502=)
c.4360C>T (p.Gln1454Ter)
c.4243C>T (p.Gln1415Ter)
c.2940C>T (p.Asp980=)
n.4924C>T
n.4526+13835C>T
c.4497C>T (p.Asp1499=)
n.4940C>T
n.4686C>T
n.4542+13835C>T
2g.227008213G>CCA351140842COL4A4c.216C>G (p.Asp72Glu)
c.4614C>G (p.Asp1538Glu)
c.4059C>G (p.Asp1353Glu)
c.4425C>G (p.Asp1475Glu)
c.4216+13835C>G (n.4216+13835C>G)
c.4533C>G (p.Asp1511Glu)
c.4506C>G (p.Asp1502Glu)
c.4360C>G (p.Gln1454Glu)
c.4243C>G (p.Gln1415Glu)
c.2940C>G (p.Asp980Glu)
n.4924C>G
n.4526+13835C>G
c.4497C>G (p.Asp1499Glu)
n.4940C>G
n.4686C>G
n.4542+13835C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008213G=CA1332723964COL4A4c.216C= (p.Asp72=)
c.4614C= (p.Asp1538=)
c.4059C= (p.Asp1353=)
c.4425C= (p.Asp1475=)
c.4216+13835C= (n.4216+13835C=)
c.4533C= (p.Asp1511=)
c.4506C= (p.Asp1502=)
c.4360C= (p.Gln1454=)
c.4243C= (p.Gln1415=)
c.2940C= (p.Asp980=)
n.4924C=
n.4526+13835C=
c.4497C= (p.Asp1499=)
n.4940C=
n.4686C=
n.4542+13835C=
2g.227008213G>TCA351140843COL4A4c.216C>A (p.Asp72Glu)
c.4614C>A (p.Asp1538Glu)
c.4059C>A (p.Asp1353Glu)
c.4425C>A (p.Asp1475Glu)
c.4216+13835C>A (n.4216+13835C>A)
c.4533C>A (p.Asp1511Glu)
c.4506C>A (p.Asp1502Glu)
c.4360C>A (p.Gln1454Lys)
c.4243C>A (p.Gln1415Lys)
c.2940C>A (p.Asp980Glu)
n.4924C>A
n.4526+13835C>A
c.4497C>A (p.Asp1499Glu)
n.4940C>A
n.4686C>A
n.4542+13835C>A
2g.227008214T>ACA351140844COL4A4c.215A>T (p.Asp72Val)
c.4613A>T (p.Asp1538Val)
c.4058A>T (p.Asp1353Val)
c.4424A>T (p.Asp1475Val)
c.4216+13834A>T (n.4216+13834A>T)
c.4532A>T (p.Asp1511Val)
c.4505A>T (p.Asp1502Val)
c.4359A>T (p.Arg1453=)
c.4242A>T (p.Arg1414=)
c.2939A>T (p.Asp980Val)
n.4923A>T
n.4526+13834A>T
c.4496A>T (p.Asp1499Val)
n.4939A>T
n.4685A>T
n.4542+13834A>T
2g.227008214T>CCA351140845COL4A4c.215A>G (p.Asp72Gly)
c.4613A>G (p.Asp1538Gly)
c.4058A>G (p.Asp1353Gly)
c.4424A>G (p.Asp1475Gly)
c.4216+13834A>G (n.4216+13834A>G)
c.4532A>G (p.Asp1511Gly)
c.4505A>G (p.Asp1502Gly)
c.4359A>G (p.Arg1453=)
c.4242A>G (p.Arg1414=)
c.2939A>G (p.Asp980Gly)
n.4923A>G
n.4526+13834A>G
c.4496A>G (p.Asp1499Gly)
n.4939A>G
n.4685A>G
n.4542+13834A>G
2g.227008214T>GCA351140846COL4A4c.215A>C (p.Asp72Ala)
c.4613A>C (p.Asp1538Ala)
c.4058A>C (p.Asp1353Ala)
c.4424A>C (p.Asp1475Ala)
c.4216+13834A>C (n.4216+13834A>C)
c.4532A>C (p.Asp1511Ala)
c.4505A>C (p.Asp1502Ala)
c.4359A>C (p.Arg1453=)
c.4242A>C (p.Arg1414=)
c.2939A>C (p.Asp980Ala)
n.4923A>C
n.4526+13834A>C
c.4496A>C (p.Asp1499Ala)
n.4939A>C
n.4685A>C
n.4542+13834A>C
2g.227008215C>ACA351140847COL4A4c.214G>T (p.Asp72Tyr)
c.4612G>T (p.Asp1538Tyr)
c.4057G>T (p.Asp1353Tyr)
c.4423G>T (p.Asp1475Tyr)
c.4216+13833G>T (n.4216+13833G>T)
c.4531G>T (p.Asp1511Tyr)
c.4504G>T (p.Asp1502Tyr)
c.4358G>T (p.Arg1453Leu)
c.4241G>T (p.Arg1414Leu)
c.2938G>T (p.Asp980Tyr)
n.4922G>T
n.4526+13833G>T
c.4495G>T (p.Asp1499Tyr)
n.4938G>T
n.4684G>T
n.4542+13833G>T
2g.227008215C=CA1332723965COL4A4c.214G= (p.Asp72=)
c.4612G= (p.Asp1538=)
c.4057G= (p.Asp1353=)
c.4423G= (p.Asp1475=)
c.4216+13833G= (n.4216+13833G=)
c.4531G= (p.Asp1511=)
c.4504G= (p.Asp1502=)
c.4358G= (p.Arg1453=)
c.4241G= (p.Arg1414=)
c.2938G= (p.Asp980=)
n.4922G=
n.4526+13833G=
c.4495G= (p.Asp1499=)
n.4938G=
n.4684G=
n.4542+13833G=
2g.227008215C>GCA351140848COL4A4c.214G>C (p.Asp72His)
c.4612G>C (p.Asp1538His)
c.4057G>C (p.Asp1353His)
c.4423G>C (p.Asp1475His)
c.4216+13833G>C (n.4216+13833G>C)
c.4531G>C (p.Asp1511His)
c.4504G>C (p.Asp1502His)
c.4358G>C (p.Arg1453Pro)
c.4241G>C (p.Arg1414Pro)
c.2938G>C (p.Asp980His)
n.4922G>C
n.4526+13833G>C
c.4495G>C (p.Asp1499His)
n.4938G>C
n.4684G>C
n.4542+13833G>C
2g.227008215C>TCA2144115COL4A4c.214G>A (p.Asp72Asn)
c.4612G>A (p.Asp1538Asn)
c.4057G>A (p.Asp1353Asn)
c.4423G>A (p.Asp1475Asn)
c.4216+13833G>A (n.4216+13833G>A)
c.4531G>A (p.Asp1511Asn)
c.4504G>A (p.Asp1502Asn)
c.4358G>A (p.Arg1453Gln)
c.4241G>A (p.Arg1414Gln)
c.2938G>A (p.Asp980Asn)
n.4922G>A
n.4526+13833G>A
c.4495G>A (p.Asp1499Asn)
n.4938G>A
n.4684G>A
n.4542+13833G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008216G>ACA431671978COL4A4c.213C>T (p.Asn71=)
c.4611C>T (p.Asn1537=)
c.4056C>T (p.Asn1352=)
c.4422C>T (p.Asn1474=)
c.4216+13832C>T (n.4216+13832C>T)
c.4530C>T (p.Asn1510=)
c.4503C>T (p.Asn1501=)
c.4357C>T (p.Arg1453Ter)
c.4240C>T (p.Arg1414Ter)
c.2937C>T (p.Asn979=)
n.4921C>T
n.4526+13832C>T
c.4494C>T (p.Asn1498=)
n.4937C>T
n.4683C>T
n.4542+13832C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008216G>CCA351140849COL4A4c.213C>G (p.Asn71Lys)
c.4611C>G (p.Asn1537Lys)
c.4056C>G (p.Asn1352Lys)
c.4422C>G (p.Asn1474Lys)
c.4216+13832C>G (n.4216+13832C>G)
c.4530C>G (p.Asn1510Lys)
c.4503C>G (p.Asn1501Lys)
c.4357C>G (p.Arg1453Gly)
c.4240C>G (p.Arg1414Gly)
c.2937C>G (p.Asn979Lys)
n.4921C>G
n.4526+13832C>G
c.4494C>G (p.Asn1498Lys)
n.4937C>G
n.4683C>G
n.4542+13832C>G
 dbSNP gnomAD v2 gnomAD v4
2g.227008216G=CA1332723966COL4A4c.213C= (p.Asn71=)
c.4611C= (p.Asn1537=)
c.4056C= (p.Asn1352=)
c.4422C= (p.Asn1474=)
c.4216+13832C= (n.4216+13832C=)
c.4530C= (p.Asn1510=)
c.4503C= (p.Asn1501=)
c.4357C= (p.Arg1453=)
c.4240C= (p.Arg1414=)
c.2937C= (p.Asn979=)
n.4921C=
n.4526+13832C=
c.4494C= (p.Asn1498=)
n.4937C=
n.4683C=
n.4542+13832C=
2g.227008216G>TCA351140850COL4A4c.213C>A (p.Asn71Lys)
c.4611C>A (p.Asn1537Lys)
c.4056C>A (p.Asn1352Lys)
c.4422C>A (p.Asn1474Lys)
c.4216+13832C>A (n.4216+13832C>A)
c.4530C>A (p.Asn1510Lys)
c.4503C>A (p.Asn1501Lys)
c.4357C>A (p.Arg1453=)
c.4240C>A (p.Arg1414=)
c.2937C>A (p.Asn979Lys)
n.4921C>A
n.4526+13832C>A
c.4494C>A (p.Asn1498Lys)
n.4937C>A
n.4683C>A
n.4542+13832C>A
2g.227008217T>ACA351140851COL4A4c.212A>T (p.Asn71Ile)
c.4610A>T (p.Asn1537Ile)
c.4055A>T (p.Asn1352Ile)
c.4421A>T (p.Asn1474Ile)
c.4216+13831A>T (n.4216+13831A>T)
c.4529A>T (p.Asn1510Ile)
c.4502A>T (p.Asn1501Ile)
c.4356A>T (p.Lys1452Asn)
c.4239A>T (p.Lys1413Asn)
c.2936A>T (p.Asn979Ile)
n.4920A>T
n.4526+13831A>T
c.4493A>T (p.Asn1498Ile)
n.4936A>T
n.4682A>T
n.4542+13831A>T
2g.227008217T>CCA351140852COL4A4c.212A>G (p.Asn71Ser)
c.4610A>G (p.Asn1537Ser)
c.4055A>G (p.Asn1352Ser)
c.4421A>G (p.Asn1474Ser)
c.4216+13831A>G (n.4216+13831A>G)
c.4529A>G (p.Asn1510Ser)
c.4502A>G (p.Asn1501Ser)
c.4356A>G (p.Lys1452=)
c.4239A>G (p.Lys1413=)
c.2936A>G (p.Asn979Ser)
n.4920A>G
n.4526+13831A>G
c.4493A>G (p.Asn1498Ser)
n.4936A>G
n.4682A>G
n.4542+13831A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008217T>GCA351140853COL4A4c.212A>C (p.Asn71Thr)
c.4610A>C (p.Asn1537Thr)
c.4055A>C (p.Asn1352Thr)
c.4421A>C (p.Asn1474Thr)
c.4216+13831A>C (n.4216+13831A>C)
c.4529A>C (p.Asn1510Thr)
c.4502A>C (p.Asn1501Thr)
c.4356A>C (p.Lys1452Asn)
c.4239A>C (p.Lys1413Asn)
c.2936A>C (p.Asn979Thr)
n.4920A>C
n.4526+13831A>C
c.4493A>C (p.Asn1498Thr)
n.4936A>C
n.4682A>C
n.4542+13831A>C
2g.227008217T=CA1332723967COL4A4c.212A= (p.Asn71=)
c.4610A= (p.Asn1537=)
c.4055A= (p.Asn1352=)
c.4421A= (p.Asn1474=)
c.4216+13831A= (n.4216+13831A=)
c.4529A= (p.Asn1510=)
c.4502A= (p.Asn1501=)
c.4356A= (p.Lys1452=)
c.4239A= (p.Lys1413=)
c.2936A= (p.Asn979=)
n.4920A=
n.4526+13831A=
c.4493A= (p.Asn1498=)
n.4936A=
n.4682A=
n.4542+13831A=
2g.227008219dupCA916790153COL4A4c.212dup (p.Asn71LysfsTer20)
c.4610dup (p.Asn1537LysfsTer20)
c.4055dup (p.Asn1352LysfsTer20)
c.4421dup (p.Asn1474LysfsTer20)
c.4216+13831dup (n.4216+13831dup)
c.4529dup (p.Asn1510LysfsTer20)
c.4502dup (p.Asn1501LysfsTer20)
c.4356dup (p.Arg1453ThrfsTer15)
c.4239dup (p.Arg1414ThrfsTer15)
c.2936dup (p.Asn979LysfsTer20)
n.4920dup
n.4526+13831dup
c.4493dup (p.Asn1498LysfsTer20)
n.4936dup
n.4682dup
n.4542+13831dup
 dbSNP
2g.227008218T>ACA351140854COL4A4c.211A>T (p.Asn71Tyr)
c.4609A>T (p.Asn1537Tyr)
c.4054A>T (p.Asn1352Tyr)
c.4420A>T (p.Asn1474Tyr)
c.4216+13830A>T (n.4216+13830A>T)
c.4528A>T (p.Asn1510Tyr)
c.4501A>T (p.Asn1501Tyr)
c.4355A>T (p.Lys1452Ile)
c.4238A>T (p.Lys1413Ile)
c.2935A>T (p.Asn979Tyr)
n.4919A>T
n.4526+13830A>T
c.4492A>T (p.Asn1498Tyr)
n.4935A>T
n.4681A>T
n.4542+13830A>T
2g.227008218T>CCA351140855COL4A4c.211A>G (p.Asn71Asp)
c.4609A>G (p.Asn1537Asp)
c.4054A>G (p.Asn1352Asp)
c.4420A>G (p.Asn1474Asp)
c.4216+13830A>G (n.4216+13830A>G)
c.4528A>G (p.Asn1510Asp)
c.4501A>G (p.Asn1501Asp)
c.4355A>G (p.Lys1452Arg)
c.4238A>G (p.Lys1413Arg)
c.2935A>G (p.Asn979Asp)
n.4919A>G
n.4526+13830A>G
c.4492A>G (p.Asn1498Asp)
n.4935A>G
n.4681A>G
n.4542+13830A>G
2g.227008218T>GCA351140856COL4A4c.211A>C (p.Asn71His)
c.4609A>C (p.Asn1537His)
c.4054A>C (p.Asn1352His)
c.4420A>C (p.Asn1474His)
c.4216+13830A>C (n.4216+13830A>C)
c.4528A>C (p.Asn1510His)
c.4501A>C (p.Asn1501His)
c.4355A>C (p.Lys1452Thr)
c.4238A>C (p.Lys1413Thr)
c.2935A>C (p.Asn979His)
n.4919A>C
n.4526+13830A>C
c.4492A>C (p.Asn1498His)
n.4935A>C
n.4681A>C
n.4542+13830A>C
2g.227008219T>ACA351140857COL4A4c.210A>T (p.Arg70Ser)
c.4608A>T (p.Arg1536Ser)
c.4053A>T (p.Arg1351Ser)
c.4419A>T (p.Arg1473Ser)
c.4216+13829A>T (n.4216+13829A>T)
c.4527A>T (p.Arg1509Ser)
c.4500A>T (p.Arg1500Ser)
c.4354A>T (p.Lys1452Ter)
c.4237A>T (p.Lys1413Ter)
c.2934A>T (p.Arg978Ser)
n.4918A>T
n.4526+13829A>T
c.4491A>T (p.Arg1497Ser)
n.4934A>T
n.4680A>T
n.4542+13829A>T
2g.227008219T>CCA431671980COL4A4c.210A>G (p.Arg70=)
c.4608A>G (p.Arg1536=)
c.4053A>G (p.Arg1351=)
c.4419A>G (p.Arg1473=)
c.4216+13829A>G (n.4216+13829A>G)
c.4527A>G (p.Arg1509=)
c.4500A>G (p.Arg1500=)
c.4354A>G (p.Lys1452Glu)
c.4237A>G (p.Lys1413Glu)
c.2934A>G (p.Arg978=)
n.4918A>G
n.4526+13829A>G
c.4491A>G (p.Arg1497=)
n.4934A>G
n.4680A>G
n.4542+13829A>G
 ClinVar dbSNP gnomAD v2
2g.227008219T>GCA351140858COL4A4c.210A>C (p.Arg70Ser)
c.4608A>C (p.Arg1536Ser)
c.4053A>C (p.Arg1351Ser)
c.4419A>C (p.Arg1473Ser)
c.4216+13829A>C (n.4216+13829A>C)
c.4527A>C (p.Arg1509Ser)
c.4500A>C (p.Arg1500Ser)
c.4354A>C (p.Lys1452Gln)
c.4237A>C (p.Lys1413Gln)
c.2934A>C (p.Arg978Ser)
n.4918A>C
n.4526+13829A>C
c.4491A>C (p.Arg1497Ser)
n.4934A>C
n.4680A>C
n.4542+13829A>C
2g.227008219T=CA1332723968COL4A4c.210A= (p.Arg70=)
c.4608A= (p.Arg1536=)
c.4053A= (p.Arg1351=)
c.4419A= (p.Arg1473=)
c.4216+13829A= (n.4216+13829A=)
c.4527A= (p.Arg1509=)
c.4500A= (p.Arg1500=)
c.4354A= (p.Lys1452=)
c.4237A= (p.Lys1413=)
c.2934A= (p.Arg978=)
n.4918A=
n.4526+13829A=
c.4491A= (p.Arg1497=)
n.4934A=
n.4680A=
n.4542+13829A=
2g.227008220C>ACA67238301COL4A4c.209G>T (p.Arg70Ile)
c.4607G>T (p.Arg1536Ile)
c.4052G>T (p.Arg1351Ile)
c.4418G>T (p.Arg1473Ile)
c.4216+13828G>T (n.4216+13828G>T)
c.4526G>T (p.Arg1509Ile)
c.4499G>T (p.Arg1500Ile)
c.4353G>T (p.Glu1451Asp)
c.4236G>T (p.Glu1412Asp)
c.2933G>T (p.Arg978Ile)
n.4917G>T
n.4526+13828G>T
c.4490G>T (p.Arg1497Ile)
n.4933G>T
n.4679G>T
n.4542+13828G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008220C=CA1332723969COL4A4c.209G= (p.Arg70=)
c.4607G= (p.Arg1536=)
c.4052G= (p.Arg1351=)
c.4418G= (p.Arg1473=)
c.4216+13828G= (n.4216+13828G=)
c.4526G= (p.Arg1509=)
c.4499G= (p.Arg1500=)
c.4353G= (p.Glu1451=)
c.4236G= (p.Glu1412=)
c.2933G= (p.Arg978=)
n.4917G=
n.4526+13828G=
c.4490G= (p.Arg1497=)
n.4933G=
n.4679G=
n.4542+13828G=
2g.227008220C>GCA351140859COL4A4c.209G>C (p.Arg70Thr)
c.4607G>C (p.Arg1536Thr)
c.4052G>C (p.Arg1351Thr)
c.4418G>C (p.Arg1473Thr)
c.4216+13828G>C (n.4216+13828G>C)
c.4526G>C (p.Arg1509Thr)
c.4499G>C (p.Arg1500Thr)
c.4353G>C (p.Glu1451Asp)
c.4236G>C (p.Glu1412Asp)
c.2933G>C (p.Arg978Thr)
n.4917G>C
n.4526+13828G>C
c.4490G>C (p.Arg1497Thr)
n.4933G>C
n.4679G>C
n.4542+13828G>C
2g.227008220C>TCA351140860COL4A4c.209G>A (p.Arg70Lys)
c.4607G>A (p.Arg1536Lys)
c.4052G>A (p.Arg1351Lys)
c.4418G>A (p.Arg1473Lys)
c.4216+13828G>A (n.4216+13828G>A)
c.4526G>A (p.Arg1509Lys)
c.4499G>A (p.Arg1500Lys)
c.4353G>A (p.Glu1451=)
c.4236G>A (p.Glu1412=)
c.2933G>A (p.Arg978Lys)
n.4917G>A
n.4526+13828G>A
c.4490G>A (p.Arg1497Lys)
n.4933G>A
n.4679G>A
n.4542+13828G>A
2g.227008221T>ACA351140861COL4A4c.208A>T (p.Arg70Ter)
c.4606A>T (p.Arg1536Ter)
c.4051A>T (p.Arg1351Ter)
c.4417A>T (p.Arg1473Ter)
c.4216+13827A>T (n.4216+13827A>T)
c.4525A>T (p.Arg1509Ter)
c.4498A>T (p.Arg1500Ter)
c.4352A>T (p.Glu1451Val)
c.4235A>T (p.Glu1412Val)
c.2932A>T (p.Arg978Ter)
n.4916A>T
n.4526+13827A>T
c.4489A>T (p.Arg1497Ter)
n.4932A>T
n.4678A>T
n.4542+13827A>T
2g.227008221T>CCA351140862COL4A4c.208A>G (p.Arg70Gly)
c.4606A>G (p.Arg1536Gly)
c.4051A>G (p.Arg1351Gly)
c.4417A>G (p.Arg1473Gly)
c.4216+13827A>G (n.4216+13827A>G)
c.4525A>G (p.Arg1509Gly)
c.4498A>G (p.Arg1500Gly)
c.4352A>G (p.Glu1451Gly)
c.4235A>G (p.Glu1412Gly)
c.2932A>G (p.Arg978Gly)
n.4916A>G
n.4526+13827A>G
c.4489A>G (p.Arg1497Gly)
n.4932A>G
n.4678A>G
n.4542+13827A>G
2g.227008221T>GCA431671981COL4A4c.208A>C (p.Arg70=)
c.4606A>C (p.Arg1536=)
c.4051A>C (p.Arg1351=)
c.4417A>C (p.Arg1473=)
c.4216+13827A>C (n.4216+13827A>C)
c.4525A>C (p.Arg1509=)
c.4498A>C (p.Arg1500=)
c.4352A>C (p.Glu1451Ala)
c.4235A>C (p.Glu1412Ala)
c.2932A>C (p.Arg978=)
n.4916A>C
n.4526+13827A>C
c.4489A>C (p.Arg1497=)
n.4932A>C
n.4678A>C
n.4542+13827A>C
2g.227008222C>ACA351140863COL4A4c.207G>T (p.Gln69His)
c.4605G>T (p.Gln1535His)
c.4050G>T (p.Gln1350His)
c.4416G>T (p.Gln1472His)
c.4216+13826G>T (n.4216+13826G>T)
c.4524G>T (p.Gln1508His)
c.4497G>T (p.Gln1499His)
c.4351G>T (p.Glu1451Ter)
c.4234G>T (p.Glu1412Ter)
c.2931G>T (p.Gln977His)
n.4915G>T
n.4526+13826G>T
c.4488G>T (p.Gln1496His)
n.4931G>T
n.4677G>T
n.4542+13826G>T
2g.227008222C>GCA351140864COL4A4c.207G>C (p.Gln69His)
c.4605G>C (p.Gln1535His)
c.4050G>C (p.Gln1350His)
c.4416G>C (p.Gln1472His)
c.4216+13826G>C (n.4216+13826G>C)
c.4524G>C (p.Gln1508His)
c.4497G>C (p.Gln1499His)
c.4351G>C (p.Glu1451Gln)
c.4234G>C (p.Glu1412Gln)
c.2931G>C (p.Gln977His)
n.4915G>C
n.4526+13826G>C
c.4488G>C (p.Gln1496His)
n.4931G>C
n.4677G>C
n.4542+13826G>C
2g.227008222C>TCA431671982COL4A4c.207G>A (p.Gln69=)
c.4605G>A (p.Gln1535=)
c.4050G>A (p.Gln1350=)
c.4416G>A (p.Gln1472=)
c.4216+13826G>A (n.4216+13826G>A)
c.4524G>A (p.Gln1508=)
c.4497G>A (p.Gln1499=)
c.4351G>A (p.Glu1451Lys)
c.4234G>A (p.Glu1412Lys)
c.2931G>A (p.Gln977=)
n.4915G>A
n.4526+13826G>A
c.4488G>A (p.Gln1496=)
n.4931G>A
n.4677G>A
n.4542+13826G>A
2g.227008222_227008224delinsCTGCA1332723970COL4A4c.205_207delinsCAG (p.Gln69=)
c.4603_4605delinsCAG (p.Gln1535=)
c.4048_4050delinsCAG (p.Gln1350=)
c.4414_4416delinsCAG (p.Gln1472=)
c.4216+13824_4216+13826delinsCAG (n.4216+13824_4216+13826delinsCAG)
c.4522_4524delinsCAG (p.Gln1508=)
c.4495_4497delinsCAG (p.Gln1499=)
c.4349_4351delinsCAG (p.Pro1450=)
c.4232_4234delinsCAG (p.Pro1411=)
c.2929_2931delinsCAG (p.Gln977=)
n.4913_4915delinsCAG
n.4526+13824_4526+13826delinsCAG
c.4486_4488delinsCAG (p.Gln1496=)
n.4929_4931delinsCAG
n.4675_4677delinsCAG
n.4542+13824_4542+13826delinsCAG
2g.227008223T>ACA351140865COL4A4c.206A>T (p.Gln69Leu)
c.4604A>T (p.Gln1535Leu)
c.4049A>T (p.Gln1350Leu)
c.4415A>T (p.Gln1472Leu)
c.4216+13825A>T (n.4216+13825A>T)
c.4523A>T (p.Gln1508Leu)
c.4496A>T (p.Gln1499Leu)
c.4350A>T (p.Pro1450=)
c.4233A>T (p.Pro1411=)
c.2930A>T (p.Gln977Leu)
n.4914A>T
n.4526+13825A>T
c.4487A>T (p.Gln1496Leu)
n.4930A>T
n.4676A>T
n.4542+13825A>T
2g.227008223T>CCA351140866COL4A4c.206A>G (p.Gln69Arg)
c.4604A>G (p.Gln1535Arg)
c.4049A>G (p.Gln1350Arg)
c.4415A>G (p.Gln1472Arg)
c.4216+13825A>G (n.4216+13825A>G)
c.4523A>G (p.Gln1508Arg)
c.4496A>G (p.Gln1499Arg)
c.4350A>G (p.Pro1450=)
c.4233A>G (p.Pro1411=)
c.2930A>G (p.Gln977Arg)
n.4914A>G
n.4526+13825A>G
c.4487A>G (p.Gln1496Arg)
n.4930A>G
n.4676A>G
n.4542+13825A>G
2g.227008223T>GCA351140867COL4A4c.206A>C (p.Gln69Pro)
c.4604A>C (p.Gln1535Pro)
c.4049A>C (p.Gln1350Pro)
c.4415A>C (p.Gln1472Pro)
c.4216+13825A>C (n.4216+13825A>C)
c.4523A>C (p.Gln1508Pro)
c.4496A>C (p.Gln1499Pro)
c.4350A>C (p.Pro1450=)
c.4233A>C (p.Pro1411=)
c.2930A>C (p.Gln977Pro)
n.4914A>C
n.4526+13825A>C
c.4487A>C (p.Gln1496Pro)
n.4930A>C
n.4676A>C
n.4542+13825A>C
2g.227008223_227008224delCA1139657738COL4A4c.205_206del (p.Gln69GlufsTer21)
c.4603_4604del (p.Gln1535GlufsTer21)
c.4048_4049del (p.Gln1350GlufsTer21)
c.4414_4415del (p.Gln1472GlufsTer21)
c.4216+13824_4216+13825del (n.4216+13824_4216+13825del)
c.4522_4523del (p.Gln1508GlufsTer21)
c.4495_4496del (p.Gln1499GlufsTer21)
c.4349_4350del (p.Pro1450ArgfsTer17)
c.4232_4233del (p.Pro1411ArgfsTer17)
c.2929_2930del (p.Gln977GlufsTer21)
n.4913_4914del
n.4526+13824_4526+13825del
c.4486_4487del (p.Gln1496GlufsTer21)
n.4929_4930del
n.4675_4676del
n.4542+13824_4542+13825del
 ClinVar dbSNP gnomAD v4
2g.227008224G>ACA351140868COL4A4c.205C>T (p.Gln69Ter)
c.4603C>T (p.Gln1535Ter)
c.4048C>T (p.Gln1350Ter)
c.4414C>T (p.Gln1472Ter)
c.4216+13824C>T (n.4216+13824C>T)
c.4522C>T (p.Gln1508Ter)
c.4495C>T (p.Gln1499Ter)
c.4349C>T (p.Pro1450Leu)
c.4232C>T (p.Pro1411Leu)
c.2929C>T (p.Gln977Ter)
n.4913C>T
n.4526+13824C>T
c.4486C>T (p.Gln1496Ter)
n.4929C>T
n.4675C>T
n.4542+13824C>T
 ClinVar
2g.227008224G>CCA351140869COL4A4c.205C>G (p.Gln69Glu)
c.4603C>G (p.Gln1535Glu)
c.4048C>G (p.Gln1350Glu)
c.4414C>G (p.Gln1472Glu)
c.4216+13824C>G (n.4216+13824C>G)
c.4522C>G (p.Gln1508Glu)
c.4495C>G (p.Gln1499Glu)
c.4349C>G (p.Pro1450Arg)
c.4232C>G (p.Pro1411Arg)
c.2929C>G (p.Gln977Glu)
n.4913C>G
n.4526+13824C>G
c.4486C>G (p.Gln1496Glu)
n.4929C>G
n.4675C>G
n.4542+13824C>G
2g.227008224G>TCA351140870COL4A4c.205C>A (p.Gln69Lys)
c.4603C>A (p.Gln1535Lys)
c.4048C>A (p.Gln1350Lys)
c.4414C>A (p.Gln1472Lys)
c.4216+13824C>A (n.4216+13824C>A)
c.4522C>A (p.Gln1508Lys)
c.4495C>A (p.Gln1499Lys)
c.4349C>A (p.Pro1450Gln)
c.4232C>A (p.Pro1411Gln)
c.2929C>A (p.Gln977Lys)
n.4913C>A
n.4526+13824C>A
c.4486C>A (p.Gln1496Lys)
n.4929C>A
n.4675C>A
n.4542+13824C>A
2g.227008226delCA2577263045COL4A4c.205del (p.Gln69ArgfsTer17)
c.4603del (p.Gln1535ArgfsTer17)
c.4048del (p.Gln1350ArgfsTer17)
c.4414del (p.Gln1472ArgfsTer17)
c.4216+13824del (n.4216+13824del)
c.4522del (p.Gln1508ArgfsTer17)
c.4495del (p.Gln1499ArgfsTer17)
c.4349del (p.Pro1450GlnfsTer?)
c.4232del (p.Pro1411GlnfsTer?)
c.2929del (p.Gln977ArgfsTer17)
n.4913del
n.4526+13824del
c.4486del (p.Gln1496ArgfsTer17)
n.4929del
n.4675del
n.4542+13824del
2g.227008225G>ACA431671983COL4A4c.204C>T (p.Ala68=)
c.4602C>T (p.Ala1534=)
c.4047C>T (p.Ala1349=)
c.4413C>T (p.Ala1471=)
c.4216+13823C>T (n.4216+13823C>T)
c.4521C>T (p.Ala1507=)
c.4494C>T (p.Ala1498=)
c.4348C>T (p.Pro1450Ser)
c.4231C>T (p.Pro1411Ser)
c.2928C>T (p.Ala976=)
n.4912C>T
n.4526+13823C>T
c.4485C>T (p.Ala1495=)
n.4928C>T
n.4674C>T
n.4542+13823C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008225G>CCA431671984COL4A4c.204C>G (p.Ala68=)
c.4602C>G (p.Ala1534=)
c.4047C>G (p.Ala1349=)
c.4413C>G (p.Ala1471=)
c.4216+13823C>G (n.4216+13823C>G)
c.4521C>G (p.Ala1507=)
c.4494C>G (p.Ala1498=)
c.4348C>G (p.Pro1450Ala)
c.4231C>G (p.Pro1411Ala)
c.2928C>G (p.Ala976=)
n.4912C>G
n.4526+13823C>G
c.4485C>G (p.Ala1495=)
n.4928C>G
n.4674C>G
n.4542+13823C>G
2g.227008225G=CA1332723971COL4A4c.204C= (p.Ala68=)
c.4602C= (p.Ala1534=)
c.4047C= (p.Ala1349=)
c.4413C= (p.Ala1471=)
c.4216+13823C= (n.4216+13823C=)
c.4521C= (p.Ala1507=)
c.4494C= (p.Ala1498=)
c.4348C= (p.Pro1450=)
c.4231C= (p.Pro1411=)
c.2928C= (p.Ala976=)
n.4912C=
n.4526+13823C=
c.4485C= (p.Ala1495=)
n.4928C=
n.4674C=
n.4542+13823C=
2g.227008225G>TCA431671985COL4A4c.204C>A (p.Ala68=)
c.4602C>A (p.Ala1534=)
c.4047C>A (p.Ala1349=)
c.4413C>A (p.Ala1471=)
c.4216+13823C>A (n.4216+13823C>A)
c.4521C>A (p.Ala1507=)
c.4494C>A (p.Ala1498=)
c.4348C>A (p.Pro1450Thr)
c.4231C>A (p.Pro1411Thr)
c.2928C>A (p.Ala976=)
n.4912C>A
n.4526+13823C>A
c.4485C>A (p.Ala1495=)
n.4928C>A
n.4674C>A
n.4542+13823C>A
2g.227008226G>ACA351140872COL4A4c.203C>T (p.Ala68Val)
c.4601C>T (p.Ala1534Val)
c.4046C>T (p.Ala1349Val)
c.4412C>T (p.Ala1471Val)
c.4216+13822C>T (n.4216+13822C>T)
c.4520C>T (p.Ala1507Val)
c.4493C>T (p.Ala1498Val)
c.4347C>T (p.Cys1449=)
c.4230C>T (p.Cys1410=)
c.2927C>T (p.Ala976Val)
n.4911C>T
n.4526+13822C>T
c.4484C>T (p.Ala1495Val)
n.4927C>T
n.4673C>T
n.4542+13822C>T
2g.227008226G>CCA351140873COL4A4c.203C>G (p.Ala68Gly)
c.4601C>G (p.Ala1534Gly)
c.4046C>G (p.Ala1349Gly)
c.4412C>G (p.Ala1471Gly)
c.4216+13822C>G (n.4216+13822C>G)
c.4520C>G (p.Ala1507Gly)
c.4493C>G (p.Ala1498Gly)
c.4347C>G (p.Cys1449Trp)
c.4230C>G (p.Cys1410Trp)
c.2927C>G (p.Ala976Gly)
n.4911C>G
n.4526+13822C>G
c.4484C>G (p.Ala1495Gly)
n.4927C>G
n.4673C>G
n.4542+13822C>G
2g.227008226G>TCA351140871COL4A4c.203C>A (p.Ala68Asp)
c.4601C>A (p.Ala1534Asp)
c.4046C>A (p.Ala1349Asp)
c.4412C>A (p.Ala1471Asp)
c.4216+13822C>A (n.4216+13822C>A)
c.4520C>A (p.Ala1507Asp)
c.4493C>A (p.Ala1498Asp)
c.4347C>A (p.Cys1449Ter)
c.4230C>A (p.Cys1410Ter)
c.2927C>A (p.Ala976Asp)
n.4911C>A
n.4526+13822C>A
c.4484C>A (p.Ala1495Asp)
n.4927C>A
n.4673C>A
n.4542+13822C>A
2g.227008227C>ACA351140876COL4A4c.202G>T (p.Ala68Ser)
c.4600G>T (p.Ala1534Ser)
c.4045G>T (p.Ala1349Ser)
c.4411G>T (p.Ala1471Ser)
c.4216+13821G>T (n.4216+13821G>T)
c.4519G>T (p.Ala1507Ser)
c.4492G>T (p.Ala1498Ser)
c.4346G>T (p.Cys1449Phe)
c.4229G>T (p.Cys1410Phe)
c.2926G>T (p.Ala976Ser)
n.4910G>T
n.4526+13821G>T
c.4483G>T (p.Ala1495Ser)
n.4926G>T
n.4672G>T
n.4542+13821G>T
2g.227008227C>GCA351140874COL4A4c.202G>C (p.Ala68Pro)
c.4600G>C (p.Ala1534Pro)
c.4045G>C (p.Ala1349Pro)
c.4411G>C (p.Ala1471Pro)
c.4216+13821G>C (n.4216+13821G>C)
c.4519G>C (p.Ala1507Pro)
c.4492G>C (p.Ala1498Pro)
c.4346G>C (p.Cys1449Ser)
c.4229G>C (p.Cys1410Ser)
c.2926G>C (p.Ala976Pro)
n.4910G>C
n.4526+13821G>C
c.4483G>C (p.Ala1495Pro)
n.4926G>C
n.4672G>C
n.4542+13821G>C
2g.227008227C>TCA351140875COL4A4c.202G>A (p.Ala68Thr)
c.4600G>A (p.Ala1534Thr)
c.4045G>A (p.Ala1349Thr)
c.4411G>A (p.Ala1471Thr)
c.4216+13821G>A (n.4216+13821G>A)
c.4519G>A (p.Ala1507Thr)
c.4492G>A (p.Ala1498Thr)
c.4346G>A (p.Cys1449Tyr)
c.4229G>A (p.Cys1410Tyr)
c.2926G>A (p.Ala976Thr)
n.4910G>A
n.4526+13821G>A
c.4483G>A (p.Ala1495Thr)
n.4926G>A
n.4672G>A
n.4542+13821G>A
2g.227008228A=CA1332723972COL4A4c.201T= (p.Tyr67=)
c.4599T= (p.Tyr1533=)
c.4044T= (p.Tyr1348=)
c.4410T= (p.Tyr1470=)
c.4216+13820T= (n.4216+13820T=)
c.4518T= (p.Tyr1506=)
c.4491T= (p.Tyr1497=)
c.4345T= (p.Cys1449=)
c.4228T= (p.Cys1410=)
c.2925T= (p.Tyr975=)
n.4909T=
n.4526+13820T=
c.4482T= (p.Tyr1494=)
n.4925T=
n.4671T=
n.4542+13820T=
2g.227008228A>CCA351140877COL4A4c.201T>G (p.Tyr67Ter)
c.4599T>G (p.Tyr1533Ter)
c.4044T>G (p.Tyr1348Ter)
c.4410T>G (p.Tyr1470Ter)
c.4216+13820T>G (n.4216+13820T>G)
c.4518T>G (p.Tyr1506Ter)
c.4491T>G (p.Tyr1497Ter)
c.4345T>G (p.Cys1449Gly)
c.4228T>G (p.Cys1410Gly)
c.2925T>G (p.Tyr975Ter)
n.4909T>G
n.4526+13820T>G
c.4482T>G (p.Tyr1494Ter)
n.4925T>G
n.4671T>G
n.4542+13820T>G
 ClinVar dbSNP
2g.227008228A>GCA2144116COL4A4c.201T>C (p.Tyr67=)
c.4599T>C (p.Tyr1533=)
c.4044T>C (p.Tyr1348=)
c.4410T>C (p.Tyr1470=)
c.4216+13820T>C (n.4216+13820T>C)
c.4518T>C (p.Tyr1506=)
c.4491T>C (p.Tyr1497=)
c.4345T>C (p.Cys1449Arg)
c.4228T>C (p.Cys1410Arg)
c.2925T>C (p.Tyr975=)
n.4909T>C
n.4526+13820T>C
c.4482T>C (p.Tyr1494=)
n.4925T>C
n.4671T>C
n.4542+13820T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008228A>TCA351140878COL4A4c.201T>A (p.Tyr67Ter)
c.4599T>A (p.Tyr1533Ter)
c.4044T>A (p.Tyr1348Ter)
c.4410T>A (p.Tyr1470Ter)
c.4216+13820T>A (n.4216+13820T>A)
c.4518T>A (p.Tyr1506Ter)
c.4491T>A (p.Tyr1497Ter)
c.4345T>A (p.Cys1449Ser)
c.4228T>A (p.Cys1410Ser)
c.2925T>A (p.Tyr975Ter)
n.4909T>A
n.4526+13820T>A
c.4482T>A (p.Tyr1494Ter)
n.4925T>A
n.4671T>A
n.4542+13820T>A
2g.227008229T>ACA351140879COL4A4c.200A>T (p.Tyr67Phe)
c.4598A>T (p.Tyr1533Phe)
c.4043A>T (p.Tyr1348Phe)
c.4409A>T (p.Tyr1470Phe)
c.4216+13819A>T (n.4216+13819A>T)
c.4517A>T (p.Tyr1506Phe)
c.4490A>T (p.Tyr1497Phe)
c.4344A>T (p.Leu1448=)
c.4227A>T (p.Leu1409=)
c.2924A>T (p.Tyr975Phe)
n.4908A>T
n.4526+13819A>T
c.4481A>T (p.Tyr1494Phe)
n.4924A>T
n.4670A>T
n.4542+13819A>T
2g.227008229T>CCA351140880COL4A4c.200A>G (p.Tyr67Cys)
c.4598A>G (p.Tyr1533Cys)
c.4043A>G (p.Tyr1348Cys)
c.4409A>G (p.Tyr1470Cys)
c.4216+13819A>G (n.4216+13819A>G)
c.4517A>G (p.Tyr1506Cys)
c.4490A>G (p.Tyr1497Cys)
c.4344A>G (p.Leu1448=)
c.4227A>G (p.Leu1409=)
c.2924A>G (p.Tyr975Cys)
n.4908A>G
n.4526+13819A>G
c.4481A>G (p.Tyr1494Cys)
n.4924A>G
n.4670A>G
n.4542+13819A>G
2g.227008229T>GCA351140881COL4A4c.200A>C (p.Tyr67Ser)
c.4598A>C (p.Tyr1533Ser)
c.4043A>C (p.Tyr1348Ser)
c.4409A>C (p.Tyr1470Ser)
c.4216+13819A>C (n.4216+13819A>C)
c.4517A>C (p.Tyr1506Ser)
c.4490A>C (p.Tyr1497Ser)
c.4344A>C (p.Leu1448=)
c.4227A>C (p.Leu1409=)
c.2924A>C (p.Tyr975Ser)
n.4908A>C
n.4526+13819A>C
c.4481A>C (p.Tyr1494Ser)
n.4924A>C
n.4670A>C
n.4542+13819A>C
2g.227008230A>CCA351140882COL4A4c.199T>G (p.Tyr67Asp)
c.4597T>G (p.Tyr1533Asp)
c.4042T>G (p.Tyr1348Asp)
c.4408T>G (p.Tyr1470Asp)
c.4216+13818T>G (n.4216+13818T>G)
c.4516T>G (p.Tyr1506Asp)
c.4489T>G (p.Tyr1497Asp)
c.4343T>G (p.Leu1448Arg)
c.4226T>G (p.Leu1409Arg)
c.2923T>G (p.Tyr975Asp)
n.4907T>G
n.4526+13818T>G
c.4480T>G (p.Tyr1494Asp)
n.4923T>G
n.4669T>G
n.4542+13818T>G
2g.227008230A>GCA351140883COL4A4c.199T>C (p.Tyr67His)
c.4597T>C (p.Tyr1533His)
c.4042T>C (p.Tyr1348His)
c.4408T>C (p.Tyr1470His)
c.4216+13818T>C (n.4216+13818T>C)
c.4516T>C (p.Tyr1506His)
c.4489T>C (p.Tyr1497His)
c.4343T>C (p.Leu1448Pro)
c.4226T>C (p.Leu1409Pro)
c.2923T>C (p.Tyr975His)
n.4907T>C
n.4526+13818T>C
c.4480T>C (p.Tyr1494His)
n.4923T>C
n.4669T>C
n.4542+13818T>C
2g.227008230A>TCA351140884COL4A4c.199T>A (p.Tyr67Asn)
c.4597T>A (p.Tyr1533Asn)
c.4042T>A (p.Tyr1348Asn)
c.4408T>A (p.Tyr1470Asn)
c.4216+13818T>A (n.4216+13818T>A)
c.4516T>A (p.Tyr1506Asn)
c.4489T>A (p.Tyr1497Asn)
c.4343T>A (p.Leu1448Gln)
c.4226T>A (p.Leu1409Gln)
c.2923T>A (p.Tyr975Asn)
n.4907T>A
n.4526+13818T>A
c.4480T>A (p.Tyr1494Asn)
n.4923T>A
n.4669T>A
n.4542+13818T>A
2g.227008231G>ACA431671987COL4A4c.198C>T (p.His66=)
c.4596C>T (p.His1532=)
c.4041C>T (p.His1347=)
c.4407C>T (p.His1469=)
c.4216+13817C>T (n.4216+13817C>T)
c.4515C>T (p.His1505=)
c.4488C>T (p.His1496=)
c.4342C>T (p.Leu1448=)
c.4225C>T (p.Leu1409=)
c.2922C>T (p.His974=)
n.4906C>T
n.4526+13817C>T
c.4479C>T (p.His1493=)
n.4922C>T
n.4668C>T
n.4542+13817C>T
2g.227008231G>CCA351140885COL4A4c.198C>G (p.His66Gln)
c.4596C>G (p.His1532Gln)
c.4041C>G (p.His1347Gln)
c.4407C>G (p.His1469Gln)
c.4216+13817C>G (n.4216+13817C>G)
c.4515C>G (p.His1505Gln)
c.4488C>G (p.His1496Gln)
c.4342C>G (p.Leu1448Val)
c.4225C>G (p.Leu1409Val)
c.2922C>G (p.His974Gln)
n.4906C>G
n.4526+13817C>G
c.4479C>G (p.His1493Gln)
n.4922C>G
n.4668C>G
n.4542+13817C>G
2g.227008231G>TCA351140886COL4A4c.198C>A (p.His66Gln)
c.4596C>A (p.His1532Gln)
c.4041C>A (p.His1347Gln)
c.4407C>A (p.His1469Gln)
c.4216+13817C>A (n.4216+13817C>A)
c.4515C>A (p.His1505Gln)
c.4488C>A (p.His1496Gln)
c.4342C>A (p.Leu1448Ile)
c.4225C>A (p.Leu1409Ile)
c.2922C>A (p.His974Gln)
n.4906C>A
n.4526+13817C>A
c.4479C>A (p.His1493Gln)
n.4922C>A
n.4668C>A
n.4542+13817C>A
2g.227008232T>ACA351140888COL4A4c.197A>T (p.His66Leu)
c.4595A>T (p.His1532Leu)
c.4040A>T (p.His1347Leu)
c.4406A>T (p.His1469Leu)
c.4216+13816A>T (n.4216+13816A>T)
c.4514A>T (p.His1505Leu)
c.4487A>T (p.His1496Leu)
c.4341A>T (p.Pro1447=)
c.4224A>T (p.Pro1408=)
c.2921A>T (p.His974Leu)
n.4905A>T
n.4526+13816A>T
c.4478A>T (p.His1493Leu)
n.4921A>T
n.4667A>T
n.4542+13816A>T
2g.227008232T>CCA2144117COL4A4c.197A>G (p.His66Arg)
c.4595A>G (p.His1532Arg)
c.4040A>G (p.His1347Arg)
c.4406A>G (p.His1469Arg)
c.4216+13816A>G (n.4216+13816A>G)
c.4514A>G (p.His1505Arg)
c.4487A>G (p.His1496Arg)
c.4341A>G (p.Pro1447=)
c.4224A>G (p.Pro1408=)
c.2921A>G (p.His974Arg)
n.4905A>G
n.4526+13816A>G
c.4478A>G (p.His1493Arg)
n.4921A>G
n.4667A>G
n.4542+13816A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008232T>GCA351140887COL4A4c.197A>C (p.His66Pro)
c.4595A>C (p.His1532Pro)
c.4040A>C (p.His1347Pro)
c.4406A>C (p.His1469Pro)
c.4216+13816A>C (n.4216+13816A>C)
c.4514A>C (p.His1505Pro)
c.4487A>C (p.His1496Pro)
c.4341A>C (p.Pro1447=)
c.4224A>C (p.Pro1408=)
c.2921A>C (p.His974Pro)
n.4905A>C
n.4526+13816A>C
c.4478A>C (p.His1493Pro)
n.4921A>C
n.4667A>C
n.4542+13816A>C
2g.227008232T=CA1332723973COL4A4c.197A= (p.His66=)
c.4595A= (p.His1532=)
c.4040A= (p.His1347=)
c.4406A= (p.His1469=)
c.4216+13816A= (n.4216+13816A=)
c.4514A= (p.His1505=)
c.4487A= (p.His1496=)
c.4341A= (p.Pro1447=)
c.4224A= (p.Pro1408=)
c.2921A= (p.His974=)
n.4905A=
n.4526+13816A=
c.4478A= (p.His1493=)
n.4921A=
n.4667A=
n.4542+13816A=
2g.227008233G>ACA351140889COL4A4c.196C>T (p.His66Tyr)
c.4594C>T (p.His1532Tyr)
c.4039C>T (p.His1347Tyr)
c.4405C>T (p.His1469Tyr)
c.4216+13815C>T (n.4216+13815C>T)
c.4513C>T (p.His1505Tyr)
c.4486C>T (p.His1496Tyr)
c.4340C>T (p.Pro1447Leu)
c.4223C>T (p.Pro1408Leu)
c.2920C>T (p.His974Tyr)
n.4904C>T
n.4526+13815C>T
c.4477C>T (p.His1493Tyr)
n.4920C>T
n.4666C>T
n.4542+13815C>T
2g.227008233G>CCA351140890COL4A4c.196C>G (p.His66Asp)
c.4594C>G (p.His1532Asp)
c.4039C>G (p.His1347Asp)
c.4405C>G (p.His1469Asp)
c.4216+13815C>G (n.4216+13815C>G)
c.4513C>G (p.His1505Asp)
c.4486C>G (p.His1496Asp)
c.4340C>G (p.Pro1447Arg)
c.4223C>G (p.Pro1408Arg)
c.2920C>G (p.His974Asp)
n.4904C>G
n.4526+13815C>G
c.4477C>G (p.His1493Asp)
n.4920C>G
n.4666C>G
n.4542+13815C>G
2g.227008233G=CA1332723974COL4A4c.196C= (p.His66=)
c.4594C= (p.His1532=)
c.4039C= (p.His1347=)
c.4405C= (p.His1469=)
c.4216+13815C= (n.4216+13815C=)
c.4513C= (p.His1505=)
c.4486C= (p.His1496=)
c.4340C= (p.Pro1447=)
c.4223C= (p.Pro1408=)
c.2920C= (p.His974=)
n.4904C=
n.4526+13815C=
c.4477C= (p.His1493=)
n.4920C=
n.4666C=
n.4542+13815C=
2g.227008233G>TCA351140891COL4A4c.196C>A (p.His66Asn)
c.4594C>A (p.His1532Asn)
c.4039C>A (p.His1347Asn)
c.4405C>A (p.His1469Asn)
c.4216+13815C>A (n.4216+13815C>A)
c.4513C>A (p.His1505Asn)
c.4486C>A (p.His1496Asn)
c.4340C>A (p.Pro1447Gln)
c.4223C>A (p.Pro1408Gln)
c.2920C>A (p.His974Asn)
n.4904C>A
n.4526+13815C>A
c.4477C>A (p.His1493Asn)
n.4920C>A
n.4666C>A
n.4542+13815C>A
 ClinVar dbSNP gnomAD v4
2g.227008234G>ACA431671988COL4A4c.195C>T (p.Cys65=)
c.4593C>T (p.Cys1531=)
c.4038C>T (p.Cys1346=)
c.4404C>T (p.Cys1468=)
c.4216+13814C>T (n.4216+13814C>T)
c.4512C>T (p.Cys1504=)
c.4485C>T (p.Cys1495=)
c.4339C>T (p.Pro1447Ser)
c.4222C>T (p.Pro1408Ser)
c.2919C>T (p.Cys973=)
n.4903C>T
n.4526+13814C>T
c.4476C>T (p.Cys1492=)
n.4919C>T
n.4665C>T
n.4542+13814C>T
 gnomAD v4
2g.227008234G>CCA351140892COL4A4c.195C>G (p.Cys65Trp)
c.4593C>G (p.Cys1531Trp)
c.4038C>G (p.Cys1346Trp)
c.4404C>G (p.Cys1468Trp)
c.4216+13814C>G (n.4216+13814C>G)
c.4512C>G (p.Cys1504Trp)
c.4485C>G (p.Cys1495Trp)
c.4339C>G (p.Pro1447Ala)
c.4222C>G (p.Pro1408Ala)
c.2919C>G (p.Cys973Trp)
n.4903C>G
n.4526+13814C>G
c.4476C>G (p.Cys1492Trp)
n.4919C>G
n.4665C>G
n.4542+13814C>G
2g.227008234G>TCA351140893COL4A4c.195C>A (p.Cys65Ter)
c.4593C>A (p.Cys1531Ter)
c.4038C>A (p.Cys1346Ter)
c.4404C>A (p.Cys1468Ter)
c.4216+13814C>A (n.4216+13814C>A)
c.4512C>A (p.Cys1504Ter)
c.4485C>A (p.Cys1495Ter)
c.4339C>A (p.Pro1447Thr)
c.4222C>A (p.Pro1408Thr)
c.2919C>A (p.Cys973Ter)
n.4903C>A
n.4526+13814C>A
c.4476C>A (p.Cys1492Ter)
n.4919C>A
n.4665C>A
n.4542+13814C>A
2g.227008235C>ACA351140894COL4A4c.194G>T (p.Cys65Phe)
c.4592G>T (p.Cys1531Phe)
c.4037G>T (p.Cys1346Phe)
c.4403G>T (p.Cys1468Phe)
c.4216+13813G>T (n.4216+13813G>T)
c.4511G>T (p.Cys1504Phe)
c.4484G>T (p.Cys1495Phe)
c.4338G>T (p.Val1446=)
c.4221G>T (p.Val1407=)
c.2918G>T (p.Cys973Phe)
n.4902G>T
n.4526+13813G>T
c.4475G>T (p.Cys1492Phe)
n.4918G>T
n.4664G>T
n.4542+13813G>T
 dbSNP gnomAD v4
2g.227008235C=CA1332723975COL4A4c.194G= (p.Cys65=)
c.4592G= (p.Cys1531=)
c.4037G= (p.Cys1346=)
c.4403G= (p.Cys1468=)
c.4216+13813G= (n.4216+13813G=)
c.4511G= (p.Cys1504=)
c.4484G= (p.Cys1495=)
c.4338G= (p.Val1446=)
c.4221G= (p.Val1407=)
c.2918G= (p.Cys973=)
n.4902G=
n.4526+13813G=
c.4475G= (p.Cys1492=)
n.4918G=
n.4664G=
n.4542+13813G=
2g.227008235C>GCA351140895COL4A4c.194G>C (p.Cys65Ser)
c.4592G>C (p.Cys1531Ser)
c.4037G>C (p.Cys1346Ser)
c.4403G>C (p.Cys1468Ser)
c.4216+13813G>C (n.4216+13813G>C)
c.4511G>C (p.Cys1504Ser)
c.4484G>C (p.Cys1495Ser)
c.4338G>C (p.Val1446=)
c.4221G>C (p.Val1407=)
c.2918G>C (p.Cys973Ser)
n.4902G>C
n.4526+13813G>C
c.4475G>C (p.Cys1492Ser)
n.4918G>C
n.4664G>C
n.4542+13813G>C
2g.227008235C>TCA351140896COL4A4c.194G>A (p.Cys65Tyr)
c.4592G>A (p.Cys1531Tyr)
c.4037G>A (p.Cys1346Tyr)
c.4403G>A (p.Cys1468Tyr)
c.4216+13813G>A (n.4216+13813G>A)
c.4511G>A (p.Cys1504Tyr)
c.4484G>A (p.Cys1495Tyr)
c.4338G>A (p.Val1446=)
c.4221G>A (p.Val1407=)
c.2918G>A (p.Cys973Tyr)
n.4902G>A
n.4526+13813G>A
c.4475G>A (p.Cys1492Tyr)
n.4918G>A
n.4664G>A
n.4542+13813G>A
 gnomAD v4
2g.227008236A>CCA351140897COL4A4c.193T>G (p.Cys65Gly)
c.4591T>G (p.Cys1531Gly)
c.4036T>G (p.Cys1346Gly)
c.4402T>G (p.Cys1468Gly)
c.4216+13812T>G (n.4216+13812T>G)
c.4510T>G (p.Cys1504Gly)
c.4483T>G (p.Cys1495Gly)
c.4337T>G (p.Val1446Gly)
c.4220T>G (p.Val1407Gly)
c.2917T>G (p.Cys973Gly)
n.4901T>G
n.4526+13812T>G
c.4474T>G (p.Cys1492Gly)
n.4917T>G
n.4663T>G
n.4542+13812T>G
2g.227008236A>GCA351140898COL4A4c.193T>C (p.Cys65Arg)
c.4591T>C (p.Cys1531Arg)
c.4036T>C (p.Cys1346Arg)
c.4402T>C (p.Cys1468Arg)
c.4216+13812T>C (n.4216+13812T>C)
c.4510T>C (p.Cys1504Arg)
c.4483T>C (p.Cys1495Arg)
c.4337T>C (p.Val1446Ala)
c.4220T>C (p.Val1407Ala)
c.2917T>C (p.Cys973Arg)
n.4901T>C
n.4526+13812T>C
c.4474T>C (p.Cys1492Arg)
n.4917T>C
n.4663T>C
n.4542+13812T>C
2g.227008236A>TCA351140899COL4A4c.193T>A (p.Cys65Ser)
c.4591T>A (p.Cys1531Ser)
c.4036T>A (p.Cys1346Ser)
c.4402T>A (p.Cys1468Ser)
c.4216+13812T>A (n.4216+13812T>A)
c.4510T>A (p.Cys1504Ser)
c.4483T>A (p.Cys1495Ser)
c.4337T>A (p.Val1446Glu)
c.4220T>A (p.Val1407Glu)
c.2917T>A (p.Cys973Ser)
n.4901T>A
n.4526+13812T>A
c.4474T>A (p.Cys1492Ser)
n.4917T>A
n.4663T>A
n.4542+13812T>A
2g.227008237C>ACA431671989COL4A4c.192G>T (p.Val64=)
c.4590G>T (p.Val1530=)
c.4035G>T (p.Val1345=)
c.4401G>T (p.Val1467=)
c.4216+13811G>T (n.4216+13811G>T)
c.4509G>T (p.Val1503=)
c.4482G>T (p.Val1494=)
c.4336G>T (p.Val1446Leu)
c.4219G>T (p.Val1407Leu)
c.2916G>T (p.Val972=)
n.4900G>T
n.4526+13811G>T
c.4473G>T (p.Val1491=)
n.4916G>T
n.4662G>T
n.4542+13811G>T
2g.227008237C=CA1332723976COL4A4c.192G= (p.Val64=)
c.4590G= (p.Val1530=)
c.4035G= (p.Val1345=)
c.4401G= (p.Val1467=)
c.4216+13811G= (n.4216+13811G=)
c.4509G= (p.Val1503=)
c.4482G= (p.Val1494=)
c.4336G= (p.Val1446=)
c.4219G= (p.Val1407=)
c.2916G= (p.Val972=)
n.4900G=
n.4526+13811G=
c.4473G= (p.Val1491=)
n.4916G=
n.4662G=
n.4542+13811G=
2g.227008237C>GCA431671990COL4A4c.192G>C (p.Val64=)
c.4590G>C (p.Val1530=)
c.4035G>C (p.Val1345=)
c.4401G>C (p.Val1467=)
c.4216+13811G>C (n.4216+13811G>C)
c.4509G>C (p.Val1503=)
c.4482G>C (p.Val1494=)
c.4336G>C (p.Val1446Leu)
c.4219G>C (p.Val1407Leu)
c.2916G>C (p.Val972=)
n.4900G>C
n.4526+13811G>C
c.4473G>C (p.Val1491=)
n.4916G>C
n.4662G>C
n.4542+13811G>C
2g.227008237C>TCA2144118COL4A4c.192G>A (p.Val64=)
c.4590G>A (p.Val1530=)
c.4035G>A (p.Val1345=)
c.4401G>A (p.Val1467=)
c.4216+13811G>A (n.4216+13811G>A)
c.4509G>A (p.Val1503=)
c.4482G>A (p.Val1494=)
c.4336G>A (p.Val1446Met)
c.4219G>A (p.Val1407Met)
c.2916G>A (p.Val972=)
n.4900G>A
n.4526+13811G>A
c.4473G>A (p.Val1491=)
n.4916G>A
n.4662G>A
n.4542+13811G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008238A>CCA351140902COL4A4c.191T>G (p.Val64Gly)
c.4589T>G (p.Val1530Gly)
c.4034T>G (p.Val1345Gly)
c.4400T>G (p.Val1467Gly)
c.4216+13810T>G (n.4216+13810T>G)
c.4508T>G (p.Val1503Gly)
c.4481T>G (p.Val1494Gly)
c.4335T>G (p.Gly1445=)
c.4218T>G (p.Gly1406=)
c.2915T>G (p.Val972Gly)
n.4899T>G
n.4526+13810T>G
c.4472T>G (p.Val1491Gly)
n.4915T>G
n.4661T>G
n.4542+13810T>G
2g.227008238A>GCA351140901COL4A4c.191T>C (p.Val64Ala)
c.4589T>C (p.Val1530Ala)
c.4034T>C (p.Val1345Ala)
c.4400T>C (p.Val1467Ala)
c.4216+13810T>C (n.4216+13810T>C)
c.4508T>C (p.Val1503Ala)
c.4481T>C (p.Val1494Ala)
c.4335T>C (p.Gly1445=)
c.4218T>C (p.Gly1406=)
c.2915T>C (p.Val972Ala)
n.4899T>C
n.4526+13810T>C
c.4472T>C (p.Val1491Ala)
n.4915T>C
n.4661T>C
n.4542+13810T>C
2g.227008238A>TCA351140900COL4A4c.191T>A (p.Val64Glu)
c.4589T>A (p.Val1530Glu)
c.4034T>A (p.Val1345Glu)
c.4400T>A (p.Val1467Glu)
c.4216+13810T>A (n.4216+13810T>A)
c.4508T>A (p.Val1503Glu)
c.4481T>A (p.Val1494Glu)
c.4335T>A (p.Gly1445=)
c.4218T>A (p.Gly1406=)
c.2915T>A (p.Val972Glu)
n.4899T>A
n.4526+13810T>A
c.4472T>A (p.Val1491Glu)
n.4915T>A
n.4661T>A
n.4542+13810T>A
2g.227008239C>ACA351140905COL4A4c.190G>T (p.Val64Leu)
c.4588G>T (p.Val1530Leu)
c.4033G>T (p.Val1345Leu)
c.4399G>T (p.Val1467Leu)
c.4216+13809G>T (n.4216+13809G>T)
c.4507G>T (p.Val1503Leu)
c.4480G>T (p.Val1494Leu)
c.4334G>T (p.Gly1445Val)
c.4217G>T (p.Gly1406Val)
c.2914G>T (p.Val972Leu)
n.4898G>T
n.4526+13809G>T
c.4471G>T (p.Val1491Leu)
n.4914G>T
n.4660G>T
n.4542+13809G>T
2g.227008239C>GCA351140903COL4A4c.190G>C (p.Val64Leu)
c.4588G>C (p.Val1530Leu)
c.4033G>C (p.Val1345Leu)
c.4399G>C (p.Val1467Leu)
c.4216+13809G>C (n.4216+13809G>C)
c.4507G>C (p.Val1503Leu)
c.4480G>C (p.Val1494Leu)
c.4334G>C (p.Gly1445Ala)
c.4217G>C (p.Gly1406Ala)
c.2914G>C (p.Val972Leu)
n.4898G>C
n.4526+13809G>C
c.4471G>C (p.Val1491Leu)
n.4914G>C
n.4660G>C
n.4542+13809G>C
 gnomAD v4
2g.227008239C>TCA351140904COL4A4c.190G>A (p.Val64Met)
c.4588G>A (p.Val1530Met)
c.4033G>A (p.Val1345Met)
c.4399G>A (p.Val1467Met)
c.4216+13809G>A (n.4216+13809G>A)
c.4507G>A (p.Val1503Met)
c.4480G>A (p.Val1494Met)
c.4334G>A (p.Gly1445Asp)
c.4217G>A (p.Gly1406Asp)
c.2914G>A (p.Val972Met)
n.4898G>A
n.4526+13809G>A
c.4471G>A (p.Val1491Met)
n.4914G>A
n.4660G>A
n.4542+13809G>A
 gnomAD v4
2g.227008240C>ACA351140906COL4A4c.190-1G>T (n.190-1G>T)
c.4587G>T (p.Gln1529His)
c.4032G>T (p.Gln1344His)
c.4398G>T (p.Gln1466His)
c.4216+13808G>T (n.4216+13808G>T)
c.4506G>T (p.Gln1502His)
c.4479G>T (p.Gln1493His)
c.4334-1G>T (n.4334-1G>T)
c.4217-1G>T (n.4217-1G>T)
c.2913G>T (p.Gln971His)
n.4897G>T
n.4526+13808G>T
c.4470G>T (p.Gln1490His)
n.4913G>T
n.4660-1G>T
n.4542+13808G>T
2g.227008240C=CA1332723977COL4A4c.190-1G= (n.190-1G=)
c.4587G= (p.Gln1529=)
c.4032G= (p.Gln1344=)
c.4398G= (p.Gln1466=)
c.4216+13808G= (n.4216+13808G=)
c.4506G= (p.Gln1502=)
c.4479G= (p.Gln1493=)
c.4334-1G= (n.4334-1G=)
c.4217-1G= (n.4217-1G=)
c.2913G= (p.Gln971=)
n.4897G=
n.4526+13808G=
c.4470G= (p.Gln1490=)
n.4913G=
n.4660-1G=
n.4542+13808G=
2g.227008240C>GCA351140907COL4A4c.190-1G>C (n.190-1G>C)
c.4587G>C (p.Gln1529His)
c.4032G>C (p.Gln1344His)
c.4398G>C (p.Gln1466His)
c.4216+13808G>C (n.4216+13808G>C)
c.4506G>C (p.Gln1502His)
c.4479G>C (p.Gln1493His)
c.4334-1G>C (n.4334-1G>C)
c.4217-1G>C (n.4217-1G>C)
c.2913G>C (p.Gln971His)
n.4897G>C
n.4526+13808G>C
c.4470G>C (p.Gln1490His)
n.4913G>C
n.4660-1G>C
n.4542+13808G>C
2g.227008240C>TCA431671991COL4A4c.190-1G>A (n.190-1G>A)
c.4587G>A (p.Gln1529=)
c.4032G>A (p.Gln1344=)
c.4398G>A (p.Gln1466=)
c.4216+13808G>A (n.4216+13808G>A)
c.4506G>A (p.Gln1502=)
c.4479G>A (p.Gln1493=)
c.4334-1G>A (n.4334-1G>A)
c.4217-1G>A (n.4217-1G>A)
c.2913G>A (p.Gln971=)
n.4897G>A
n.4526+13808G>A
c.4470G>A (p.Gln1490=)
n.4913G>A
n.4660-1G>A
n.4542+13808G>A
 dbSNP gnomAD v3 gnomAD v4
2g.227008241T>ACA351140908COL4A4c.190-2A>T (n.190-2A>T)
c.4586A>T (p.Gln1529Leu)
c.4031A>T (p.Gln1344Leu)
c.4397A>T (p.Gln1466Leu)
c.4216+13807A>T (n.4216+13807A>T)
c.4505A>T (p.Gln1502Leu)
c.4478A>T (p.Gln1493Leu)
c.4334-2A>T (n.4334-2A>T)
c.4217-2A>T (n.4217-2A>T)
c.2912A>T (p.Gln971Leu)
n.4896A>T
n.4526+13807A>T
c.4469A>T (p.Gln1490Leu)
n.4912A>T
n.4660-2A>T
n.4542+13807A>T
2g.227008241T>CCA351140909COL4A4c.190-2A>G (n.190-2A>G)
c.4586A>G (p.Gln1529Arg)
c.4031A>G (p.Gln1344Arg)
c.4397A>G (p.Gln1466Arg)
c.4216+13807A>G (n.4216+13807A>G)
c.4505A>G (p.Gln1502Arg)
c.4478A>G (p.Gln1493Arg)
c.4334-2A>G (n.4334-2A>G)
c.4217-2A>G (n.4217-2A>G)
c.2912A>G (p.Gln971Arg)
n.4896A>G
n.4526+13807A>G
c.4469A>G (p.Gln1490Arg)
n.4912A>G
n.4660-2A>G
n.4542+13807A>G
2g.227008241T>GCA351140910COL4A4c.190-2A>C (n.190-2A>C)
c.4586A>C (p.Gln1529Pro)
c.4031A>C (p.Gln1344Pro)
c.4397A>C (p.Gln1466Pro)
c.4216+13807A>C (n.4216+13807A>C)
c.4505A>C (p.Gln1502Pro)
c.4478A>C (p.Gln1493Pro)
c.4334-2A>C (n.4334-2A>C)
c.4217-2A>C (n.4217-2A>C)
c.2912A>C (p.Gln971Pro)
n.4896A>C
n.4526+13807A>C
c.4469A>C (p.Gln1490Pro)
n.4912A>C
n.4660-2A>C
n.4542+13807A>C
2g.227008242G>ACA351140911COL4A4c.190-3C>T (n.190-3C>T)
c.4585C>T (p.Gln1529Ter)
c.4030C>T (p.Gln1344Ter)
c.4396C>T (p.Gln1466Ter)
c.4216+13806C>T (n.4216+13806C>T)
c.4504C>T (p.Gln1502Ter)
c.4477C>T (p.Gln1493Ter)
c.4334-3C>T (n.4334-3C>T)
c.4217-3C>T (n.4217-3C>T)
c.2911C>T (p.Gln971Ter)
n.4895C>T
n.4526+13806C>T
c.4468C>T (p.Gln1490Ter)
n.4911C>T
n.4660-3C>T
n.4542+13806C>T
 gnomAD v4
2g.227008242G>CCA351140912COL4A4c.190-3C>G (n.190-3C>G)
c.4585C>G (p.Gln1529Glu)
c.4030C>G (p.Gln1344Glu)
c.4396C>G (p.Gln1466Glu)
c.4216+13806C>G (n.4216+13806C>G)
c.4504C>G (p.Gln1502Glu)
c.4477C>G (p.Gln1493Glu)
c.4334-3C>G (n.4334-3C>G)
c.4217-3C>G (n.4217-3C>G)
c.2911C>G (p.Gln971Glu)
n.4895C>G
n.4526+13806C>G
c.4468C>G (p.Gln1490Glu)
n.4911C>G
n.4660-3C>G
n.4542+13806C>G
 dbSNP gnomAD v3 gnomAD v4
2g.227008242G=CA1332723978COL4A4c.190-3C= (n.190-3C=)
c.4585C= (p.Gln1529=)
c.4030C= (p.Gln1344=)
c.4396C= (p.Gln1466=)
c.4216+13806C= (n.4216+13806C=)
c.4504C= (p.Gln1502=)
c.4477C= (p.Gln1493=)
c.4334-3C= (n.4334-3C=)
c.4217-3C= (n.4217-3C=)
c.2911C= (p.Gln971=)
n.4895C=
n.4526+13806C=
c.4468C= (p.Gln1490=)
n.4911C=
n.4660-3C=
n.4542+13806C=
2g.227008242G>TCA351140913COL4A4c.190-3C>A (n.190-3C>A)
c.4585C>A (p.Gln1529Lys)
c.4030C>A (p.Gln1344Lys)
c.4396C>A (p.Gln1466Lys)
c.4216+13806C>A (n.4216+13806C>A)
c.4504C>A (p.Gln1502Lys)
c.4477C>A (p.Gln1493Lys)
c.4334-3C>A (n.4334-3C>A)
c.4217-3C>A (n.4217-3C>A)
c.2911C>A (p.Gln971Lys)
n.4895C>A
n.4526+13806C>A
c.4468C>A (p.Gln1490Lys)
n.4911C>A
n.4660-3C>A
n.4542+13806C>A
2g.227008243G>ACA67238302COL4A4c.190-4C>T (n.190-4C>T)
c.4584C>T (p.His1528=)
c.4029C>T (p.His1343=)
c.4395C>T (p.His1465=)
c.4216+13805C>T (n.4216+13805C>T)
c.4503C>T (p.His1501=)
c.4476C>T (p.His1492=)
c.4334-4C>T (n.4334-4C>T)
c.4217-4C>T (n.4217-4C>T)
c.2910C>T (p.His970=)
n.4894C>T
n.4526+13805C>T
c.4467C>T (p.His1489=)
n.4910C>T
n.4660-4C>T
n.4542+13805C>T
 ClinVar dbSNP gnomAD v4 COSMIC
2g.227008243G>CCA351140914COL4A4c.190-4C>G (n.190-4C>G)
c.4584C>G (p.His1528Gln)
c.4029C>G (p.His1343Gln)
c.4395C>G (p.His1465Gln)
c.4216+13805C>G (n.4216+13805C>G)
c.4503C>G (p.His1501Gln)
c.4476C>G (p.His1492Gln)
c.4334-4C>G (n.4334-4C>G)
c.4217-4C>G (n.4217-4C>G)
c.2910C>G (p.His970Gln)
n.4894C>G
n.4526+13805C>G
c.4467C>G (p.His1489Gln)
n.4910C>G
n.4660-4C>G
n.4542+13805C>G
2g.227008243G=CA1332723979COL4A4c.190-4C= (n.190-4C=)
c.4584C= (p.His1528=)
c.4029C= (p.His1343=)
c.4395C= (p.His1465=)
c.4216+13805C= (n.4216+13805C=)
c.4503C= (p.His1501=)
c.4476C= (p.His1492=)
c.4334-4C= (n.4334-4C=)
c.4217-4C= (n.4217-4C=)
c.2910C= (p.His970=)
n.4894C=
n.4526+13805C=
c.4467C= (p.His1489=)
n.4910C=
n.4660-4C=
n.4542+13805C=
2g.227008243G>TCA351140915COL4A4c.190-4C>A (n.190-4C>A)
c.4584C>A (p.His1528Gln)
c.4029C>A (p.His1343Gln)
c.4395C>A (p.His1465Gln)
c.4216+13805C>A (n.4216+13805C>A)
c.4503C>A (p.His1501Gln)
c.4476C>A (p.His1492Gln)
c.4334-4C>A (n.4334-4C>A)
c.4217-4C>A (n.4217-4C>A)
c.2910C>A (p.His970Gln)
n.4894C>A
n.4526+13805C>A
c.4467C>A (p.His1489Gln)
n.4910C>A
n.4660-4C>A
n.4542+13805C>A
2g.227008244T>ACA351140918COL4A4c.190-5A>T (n.190-5A>T)
c.4583A>T (p.His1528Leu)
c.4028A>T (p.His1343Leu)
c.4394A>T (p.His1465Leu)
c.4216+13804A>T (n.4216+13804A>T)
c.4502A>T (p.His1501Leu)
c.4475A>T (p.His1492Leu)
c.4334-5A>T (n.4334-5A>T)
c.4217-5A>T (n.4217-5A>T)
c.2909A>T (p.His970Leu)
n.4893A>T
n.4526+13804A>T
c.4466A>T (p.His1489Leu)
n.4909A>T
n.4660-5A>T
n.4542+13804A>T
2g.227008244T>CCA351140916COL4A4c.190-5A>G (n.190-5A>G)
c.4583A>G (p.His1528Arg)
c.4028A>G (p.His1343Arg)
c.4394A>G (p.His1465Arg)
c.4216+13804A>G (n.4216+13804A>G)
c.4502A>G (p.His1501Arg)
c.4475A>G (p.His1492Arg)
c.4334-5A>G (n.4334-5A>G)
c.4217-5A>G (n.4217-5A>G)
c.2909A>G (p.His970Arg)
n.4893A>G
n.4526+13804A>G
c.4466A>G (p.His1489Arg)
n.4909A>G
n.4660-5A>G
n.4542+13804A>G
 dbSNP
2g.227008244T>GCA351140917COL4A4c.190-5A>C (n.190-5A>C)
c.4583A>C (p.His1528Pro)
c.4028A>C (p.His1343Pro)
c.4394A>C (p.His1465Pro)
c.4216+13804A>C (n.4216+13804A>C)
c.4502A>C (p.His1501Pro)
c.4475A>C (p.His1492Pro)
c.4334-5A>C (n.4334-5A>C)
c.4217-5A>C (n.4217-5A>C)
c.2909A>C (p.His970Pro)
n.4893A>C
n.4526+13804A>C
c.4466A>C (p.His1489Pro)
n.4909A>C
n.4660-5A>C
n.4542+13804A>C
2g.227008244T=CA1332723980COL4A4c.190-5A= (n.190-5A=)
c.4583A= (p.His1528=)
c.4028A= (p.His1343=)
c.4394A= (p.His1465=)
c.4216+13804A= (n.4216+13804A=)
c.4502A= (p.His1501=)
c.4475A= (p.His1492=)
c.4334-5A= (n.4334-5A=)
c.4217-5A= (n.4217-5A=)
c.2909A= (p.His970=)
n.4893A=
n.4526+13804A=
c.4466A= (p.His1489=)
n.4909A=
n.4660-5A=
n.4542+13804A=
2g.227008245G>ACA351140919COL4A4c.190-6C>T (n.190-6C>T)
c.4582C>T (p.His1528Tyr)
c.4027C>T (p.His1343Tyr)
c.4393C>T (p.His1465Tyr)
c.4216+13803C>T (n.4216+13803C>T)
c.4501C>T (p.His1501Tyr)
c.4474C>T (p.His1492Tyr)
c.4334-6C>T (n.4334-6C>T)
c.4217-6C>T (n.4217-6C>T)
c.2908C>T (p.His970Tyr)
n.4892C>T
n.4526+13803C>T
c.4465C>T (p.His1489Tyr)
n.4908C>T
n.4660-6C>T
n.4542+13803C>T
2g.227008245G>CCA351140920COL4A4c.190-6C>G (n.190-6C>G)
c.4582C>G (p.His1528Asp)
c.4027C>G (p.His1343Asp)
c.4393C>G (p.His1465Asp)
c.4216+13803C>G (n.4216+13803C>G)
c.4501C>G (p.His1501Asp)
c.4474C>G (p.His1492Asp)
c.4334-6C>G (n.4334-6C>G)
c.4217-6C>G (n.4217-6C>G)
c.2908C>G (p.His970Asp)
n.4892C>G
n.4526+13803C>G
c.4465C>G (p.His1489Asp)
n.4908C>G
n.4660-6C>G
n.4542+13803C>G
2g.227008245G>TCA351140921COL4A4c.190-6C>A (n.190-6C>A)
c.4582C>A (p.His1528Asn)
c.4027C>A (p.His1343Asn)
c.4393C>A (p.His1465Asn)
c.4216+13803C>A (n.4216+13803C>A)
c.4501C>A (p.His1501Asn)
c.4474C>A (p.His1492Asn)
c.4334-6C>A (n.4334-6C>A)
c.4217-6C>A (n.4217-6C>A)
c.2908C>A (p.His970Asn)
n.4892C>A
n.4526+13803C>A
c.4465C>A (p.His1489Asn)
n.4908C>A
n.4660-6C>A
n.4542+13803C>A
2g.227008246G>ACA431671992COL4A4c.190-7C>T (n.190-7C>T)
c.4581C>T (p.Ile1527=)
c.4026C>T (p.Ile1342=)
c.4392C>T (p.Ile1464=)
c.4216+13802C>T (n.4216+13802C>T)
c.4500C>T (p.Ile1500=)
c.4473C>T (p.Ile1491=)
c.4334-7C>T (n.4334-7C>T)
c.4217-7C>T (n.4217-7C>T)
c.2907C>T (p.Ile969=)
n.4891C>T
n.4526+13802C>T
c.4464C>T (p.Ile1488=)
n.4907C>T
n.4660-7C>T
n.4542+13802C>T
2g.227008246G>CCA351140922COL4A4c.190-7C>G (n.190-7C>G)
c.4581C>G (p.Ile1527Met)
c.4026C>G (p.Ile1342Met)
c.4392C>G (p.Ile1464Met)
c.4216+13802C>G (n.4216+13802C>G)
c.4500C>G (p.Ile1500Met)
c.4473C>G (p.Ile1491Met)
c.4334-7C>G (n.4334-7C>G)
c.4217-7C>G (n.4217-7C>G)
c.2907C>G (p.Ile969Met)
n.4891C>G
n.4526+13802C>G
c.4464C>G (p.Ile1488Met)
n.4907C>G
n.4660-7C>G
n.4542+13802C>G
2g.227008246G>TCA431671993COL4A4c.190-7C>A (n.190-7C>A)
c.4581C>A (p.Ile1527=)
c.4026C>A (p.Ile1342=)
c.4392C>A (p.Ile1464=)
c.4216+13802C>A (n.4216+13802C>A)
c.4500C>A (p.Ile1500=)
c.4473C>A (p.Ile1491=)
c.4334-7C>A (n.4334-7C>A)
c.4217-7C>A (n.4217-7C>A)
c.2907C>A (p.Ile969=)
n.4891C>A
n.4526+13802C>A
c.4464C>A (p.Ile1488=)
n.4907C>A
n.4660-7C>A
n.4542+13802C>A
 gnomAD v4
2g.227008247A>CCA351140923COL4A4c.190-8T>G (n.190-8T>G)
c.4580T>G (p.Ile1527Ser)
c.4025T>G (p.Ile1342Ser)
c.4391T>G (p.Ile1464Ser)
c.4216+13801T>G (n.4216+13801T>G)
c.4499T>G (p.Ile1500Ser)
c.4472T>G (p.Ile1491Ser)
c.4334-8T>G (n.4334-8T>G)
c.4217-8T>G (n.4217-8T>G)
c.2906T>G (p.Ile969Ser)
n.4890T>G
n.4526+13801T>G
c.4463T>G (p.Ile1488Ser)
n.4906T>G
n.4660-8T>G
n.4542+13801T>G
2g.227008247A>GCA351140924COL4A4c.190-8T>C (n.190-8T>C)
c.4580T>C (p.Ile1527Thr)
c.4025T>C (p.Ile1342Thr)
c.4391T>C (p.Ile1464Thr)
c.4216+13801T>C (n.4216+13801T>C)
c.4499T>C (p.Ile1500Thr)
c.4472T>C (p.Ile1491Thr)
c.4334-8T>C (n.4334-8T>C)
c.4217-8T>C (n.4217-8T>C)
c.2906T>C (p.Ile969Thr)
n.4890T>C
n.4526+13801T>C
c.4463T>C (p.Ile1488Thr)
n.4906T>C
n.4660-8T>C
n.4542+13801T>C
 gnomAD v4
2g.227008247A>TCA351140925COL4A4c.190-8T>A (n.190-8T>A)
c.4580T>A (p.Ile1527Asn)
c.4025T>A (p.Ile1342Asn)
c.4391T>A (p.Ile1464Asn)
c.4216+13801T>A (n.4216+13801T>A)
c.4499T>A (p.Ile1500Asn)
c.4472T>A (p.Ile1491Asn)
c.4334-8T>A (n.4334-8T>A)
c.4217-8T>A (n.4217-8T>A)
c.2906T>A (p.Ile969Asn)
n.4890T>A
n.4526+13801T>A
c.4463T>A (p.Ile1488Asn)
n.4906T>A
n.4660-8T>A
n.4542+13801T>A
2g.227008248T>ACA351140926COL4A4c.190-9A>T (n.190-9A>T)
c.4579A>T (p.Ile1527Phe)
c.4024A>T (p.Ile1342Phe)
c.4390A>T (p.Ile1464Phe)
c.4216+13800A>T (n.4216+13800A>T)
c.4498A>T (p.Ile1500Phe)
c.4471A>T (p.Ile1491Phe)
c.4334-9A>T (n.4334-9A>T)
c.4217-9A>T (n.4217-9A>T)
c.2905A>T (p.Ile969Phe)
n.4889A>T
n.4526+13800A>T
c.4462A>T (p.Ile1488Phe)
n.4905A>T
n.4660-9A>T
n.4542+13800A>T
2g.227008248T>CCA351140927COL4A4c.190-9A>G (n.190-9A>G)
c.4579A>G (p.Ile1527Val)
c.4024A>G (p.Ile1342Val)
c.4390A>G (p.Ile1464Val)
c.4216+13800A>G (n.4216+13800A>G)
c.4498A>G (p.Ile1500Val)
c.4471A>G (p.Ile1491Val)
c.4334-9A>G (n.4334-9A>G)
c.4217-9A>G (n.4217-9A>G)
c.2905A>G (p.Ile969Val)
n.4889A>G
n.4526+13800A>G
c.4462A>G (p.Ile1488Val)
n.4905A>G
n.4660-9A>G
n.4542+13800A>G
2g.227008248T>GCA351140928COL4A4c.190-9A>C (n.190-9A>C)
c.4579A>C (p.Ile1527Leu)
c.4024A>C (p.Ile1342Leu)
c.4390A>C (p.Ile1464Leu)
c.4216+13800A>C (n.4216+13800A>C)
c.4498A>C (p.Ile1500Leu)
c.4471A>C (p.Ile1491Leu)
c.4334-9A>C (n.4334-9A>C)
c.4217-9A>C (n.4217-9A>C)
c.2905A>C (p.Ile969Leu)
n.4889A>C
n.4526+13800A>C
c.4462A>C (p.Ile1488Leu)
n.4905A>C
n.4660-9A>C
n.4542+13800A>C
2g.227008249G>ACA2144119COL4A4c.190-10C>T (n.190-10C>T)
c.4578C>T (p.Asn1526=)
c.4023C>T (p.Asn1341=)
c.4389C>T (p.Asn1463=)
c.4216+13799C>T (n.4216+13799C>T)
c.4497C>T (p.Asn1499=)
c.4470C>T (p.Asn1490=)
c.4334-10C>T (n.4334-10C>T)
c.4217-10C>T (n.4217-10C>T)
c.2904C>T (p.Asn968=)
n.4888C>T
n.4526+13799C>T
c.4461C>T (p.Asn1487=)
n.4904C>T
n.4660-10C>T
n.4542+13799C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008249G>CCA351140929COL4A4c.190-10C>G (n.190-10C>G)
c.4578C>G (p.Asn1526Lys)
c.4023C>G (p.Asn1341Lys)
c.4389C>G (p.Asn1463Lys)
c.4216+13799C>G (n.4216+13799C>G)
c.4497C>G (p.Asn1499Lys)
c.4470C>G (p.Asn1490Lys)
c.4334-10C>G (n.4334-10C>G)
c.4217-10C>G (n.4217-10C>G)
c.2904C>G (p.Asn968Lys)
n.4888C>G
n.4526+13799C>G
c.4461C>G (p.Asn1487Lys)
n.4904C>G
n.4660-10C>G
n.4542+13799C>G
2g.227008249G=CA1332723981COL4A4c.190-10C= (n.190-10C=)
c.4578C= (p.Asn1526=)
c.4023C= (p.Asn1341=)
c.4389C= (p.Asn1463=)
c.4216+13799C= (n.4216+13799C=)
c.4497C= (p.Asn1499=)
c.4470C= (p.Asn1490=)
c.4334-10C= (n.4334-10C=)
c.4217-10C= (n.4217-10C=)
c.2904C= (p.Asn968=)
n.4888C=
n.4526+13799C=
c.4461C= (p.Asn1487=)
n.4904C=
n.4660-10C=
n.4542+13799C=
2g.227008249G>TCA351140930COL4A4c.190-10C>A (n.190-10C>A)
c.4578C>A (p.Asn1526Lys)
c.4023C>A (p.Asn1341Lys)
c.4389C>A (p.Asn1463Lys)
c.4216+13799C>A (n.4216+13799C>A)
c.4497C>A (p.Asn1499Lys)
c.4470C>A (p.Asn1490Lys)
c.4334-10C>A (n.4334-10C>A)
c.4217-10C>A (n.4217-10C>A)
c.2904C>A (p.Asn968Lys)
n.4888C>A
n.4526+13799C>A
c.4461C>A (p.Asn1487Lys)
n.4904C>A
n.4660-10C>A
n.4542+13799C>A
2g.227008250T>ACA351140933COL4A4c.190-11A>T (n.190-11A>T)
c.4577A>T (p.Asn1526Ile)
c.4022A>T (p.Asn1341Ile)
c.4388A>T (p.Asn1463Ile)
c.4216+13798A>T (n.4216+13798A>T)
c.4496A>T (p.Asn1499Ile)
c.4469A>T (p.Asn1490Ile)
c.4334-11A>T (n.4334-11A>T)
c.4217-11A>T (n.4217-11A>T)
c.2903A>T (p.Asn968Ile)
n.4887A>T
n.4526+13798A>T
c.4460A>T (p.Asn1487Ile)
n.4903A>T
n.4660-11A>T
n.4542+13798A>T
2g.227008250T>CCA351140932COL4A4c.190-11A>G (n.190-11A>G)
c.4577A>G (p.Asn1526Ser)
c.4022A>G (p.Asn1341Ser)
c.4388A>G (p.Asn1463Ser)
c.4216+13798A>G (n.4216+13798A>G)
c.4496A>G (p.Asn1499Ser)
c.4469A>G (p.Asn1490Ser)
c.4334-11A>G (n.4334-11A>G)
c.4217-11A>G (n.4217-11A>G)
c.2903A>G (p.Asn968Ser)
n.4887A>G
n.4526+13798A>G
c.4460A>G (p.Asn1487Ser)
n.4903A>G
n.4660-11A>G
n.4542+13798A>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.227008250T>GCA351140931COL4A4c.190-11A>C (n.190-11A>C)
c.4577A>C (p.Asn1526Thr)
c.4022A>C (p.Asn1341Thr)
c.4388A>C (p.Asn1463Thr)
c.4216+13798A>C (n.4216+13798A>C)
c.4496A>C (p.Asn1499Thr)
c.4469A>C (p.Asn1490Thr)
c.4334-11A>C (n.4334-11A>C)
c.4217-11A>C (n.4217-11A>C)
c.2903A>C (p.Asn968Thr)
n.4887A>C
n.4526+13798A>C
c.4460A>C (p.Asn1487Thr)
n.4903A>C
n.4660-11A>C
n.4542+13798A>C
 dbSNP
2g.227008250T=CA1332723982COL4A4c.190-11A= (n.190-11A=)
c.4577A= (p.Asn1526=)
c.4022A= (p.Asn1341=)
c.4388A= (p.Asn1463=)
c.4216+13798A= (n.4216+13798A=)
c.4496A= (p.Asn1499=)
c.4469A= (p.Asn1490=)
c.4334-11A= (n.4334-11A=)
c.4217-11A= (n.4217-11A=)
c.2903A= (p.Asn968=)
n.4887A=
n.4526+13798A=
c.4460A= (p.Asn1487=)
n.4903A=
n.4660-11A=
n.4542+13798A=
2g.227008251T>ACA351140934COL4A4c.190-12A>T (n.190-12A>T)
c.4576A>T (p.Asn1526Tyr)
c.4021A>T (p.Asn1341Tyr)
c.4387A>T (p.Asn1463Tyr)
c.4216+13797A>T (n.4216+13797A>T)
c.4495A>T (p.Asn1499Tyr)
c.4468A>T (p.Asn1490Tyr)
c.4334-12A>T (n.4334-12A>T)
c.4217-12A>T (n.4217-12A>T)
c.2902A>T (p.Asn968Tyr)
n.4886A>T
n.4526+13797A>T
c.4459A>T (p.Asn1487Tyr)
n.4902A>T
n.4660-12A>T
n.4542+13797A>T
2g.227008251T>CCA351140935COL4A4c.190-12A>G (n.190-12A>G)
c.4576A>G (p.Asn1526Asp)
c.4021A>G (p.Asn1341Asp)
c.4387A>G (p.Asn1463Asp)
c.4216+13797A>G (n.4216+13797A>G)
c.4495A>G (p.Asn1499Asp)
c.4468A>G (p.Asn1490Asp)
c.4334-12A>G (n.4334-12A>G)
c.4217-12A>G (n.4217-12A>G)
c.2902A>G (p.Asn968Asp)
n.4886A>G
n.4526+13797A>G
c.4459A>G (p.Asn1487Asp)
n.4902A>G
n.4660-12A>G
n.4542+13797A>G
 gnomAD v4
2g.227008251T>GCA351140936COL4A4c.190-12A>C (n.190-12A>C)
c.4576A>C (p.Asn1526His)
c.4021A>C (p.Asn1341His)
c.4387A>C (p.Asn1463His)
c.4216+13797A>C (n.4216+13797A>C)
c.4495A>C (p.Asn1499His)
c.4468A>C (p.Asn1490His)
c.4334-12A>C (n.4334-12A>C)
c.4217-12A>C (n.4217-12A>C)
c.2902A>C (p.Asn968His)
n.4886A>C
n.4526+13797A>C
c.4459A>C (p.Asn1487His)
n.4902A>C
n.4660-12A>C
n.4542+13797A>C
 gnomAD v4
2g.227008252G>ACA431671994COL4A4c.190-13C>T (n.190-13C>T)
c.4575C>T (p.Cys1525=)
c.4020C>T (p.Cys1340=)
c.4386C>T (p.Cys1462=)
c.4216+13796C>T (n.4216+13796C>T)
c.4494C>T (p.Cys1498=)
c.4467C>T (p.Cys1489=)
c.4334-13C>T (n.4334-13C>T)
c.4217-13C>T (n.4217-13C>T)
c.2901C>T (p.Cys967=)
n.4885C>T
n.4526+13796C>T
c.4458C>T (p.Cys1486=)
n.4901C>T
n.4660-13C>T
n.4542+13796C>T
2g.227008252G>CCA351140937COL4A4c.190-13C>G (n.190-13C>G)
c.4575C>G (p.Cys1525Trp)
c.4020C>G (p.Cys1340Trp)
c.4386C>G (p.Cys1462Trp)
c.4216+13796C>G (n.4216+13796C>G)
c.4494C>G (p.Cys1498Trp)
c.4467C>G (p.Cys1489Trp)
c.4334-13C>G (n.4334-13C>G)
c.4217-13C>G (n.4217-13C>G)
c.2901C>G (p.Cys967Trp)
n.4885C>G
n.4526+13796C>G
c.4458C>G (p.Cys1486Trp)
n.4901C>G
n.4660-13C>G
n.4542+13796C>G
2g.227008252G>TCA351140938COL4A4c.190-13C>A (n.190-13C>A)
c.4575C>A (p.Cys1525Ter)
c.4020C>A (p.Cys1340Ter)
c.4386C>A (p.Cys1462Ter)
c.4216+13796C>A (n.4216+13796C>A)
c.4494C>A (p.Cys1498Ter)
c.4467C>A (p.Cys1489Ter)
c.4334-13C>A (n.4334-13C>A)
c.4217-13C>A (n.4217-13C>A)
c.2901C>A (p.Cys967Ter)
n.4885C>A
n.4526+13796C>A
c.4458C>A (p.Cys1486Ter)
n.4901C>A
n.4660-13C>A
n.4542+13796C>A
2g.227008253C>ACA351140939COL4A4c.190-14G>T (n.190-14G>T)
c.4574G>T (p.Cys1525Phe)
c.4019G>T (p.Cys1340Phe)
c.4385G>T (p.Cys1462Phe)
c.4216+13795G>T (n.4216+13795G>T)
c.4493G>T (p.Cys1498Phe)
c.4466G>T (p.Cys1489Phe)
c.4334-14G>T (n.4334-14G>T)
c.4217-14G>T (n.4217-14G>T)
c.2900G>T (p.Cys967Phe)
n.4884G>T
n.4526+13795G>T
c.4457G>T (p.Cys1486Phe)
n.4900G>T
n.4660-14G>T
n.4542+13795G>T
2g.227008253C>GCA351140940COL4A4c.190-14G>C (n.190-14G>C)
c.4574G>C (p.Cys1525Ser)
c.4019G>C (p.Cys1340Ser)
c.4385G>C (p.Cys1462Ser)
c.4216+13795G>C (n.4216+13795G>C)
c.4493G>C (p.Cys1498Ser)
c.4466G>C (p.Cys1489Ser)
c.4334-14G>C (n.4334-14G>C)
c.4217-14G>C (n.4217-14G>C)
c.2900G>C (p.Cys967Ser)
n.4884G>C
n.4526+13795G>C
c.4457G>C (p.Cys1486Ser)
n.4900G>C
n.4660-14G>C
n.4542+13795G>C
 gnomAD v4
2g.227008253C>TCA351140941COL4A4c.190-14G>A (n.190-14G>A)
c.4574G>A (p.Cys1525Tyr)
c.4019G>A (p.Cys1340Tyr)
c.4385G>A (p.Cys1462Tyr)
c.4216+13795G>A (n.4216+13795G>A)
c.4493G>A (p.Cys1498Tyr)
c.4466G>A (p.Cys1489Tyr)
c.4334-14G>A (n.4334-14G>A)
c.4217-14G>A (n.4217-14G>A)
c.2900G>A (p.Cys967Tyr)
n.4884G>A
n.4526+13795G>A
c.4457G>A (p.Cys1486Tyr)
n.4900G>A
n.4660-14G>A
n.4542+13795G>A
2g.227008254A>CCA351140942COL4A4c.190-15T>G (n.190-15T>G)
c.4573T>G (p.Cys1525Gly)
c.4018T>G (p.Cys1340Gly)
c.4384T>G (p.Cys1462Gly)
c.4216+13794T>G (n.4216+13794T>G)
c.4492T>G (p.Cys1498Gly)
c.4465T>G (p.Cys1489Gly)
c.4334-15T>G (n.4334-15T>G)
c.4217-15T>G (n.4217-15T>G)
c.2899T>G (p.Cys967Gly)
n.4883T>G
n.4526+13794T>G
c.4456T>G (p.Cys1486Gly)
n.4899T>G
n.4660-15T>G
n.4542+13794T>G
2g.227008254A>GCA351140943COL4A4c.190-15T>C (n.190-15T>C)
c.4573T>C (p.Cys1525Arg)
c.4018T>C (p.Cys1340Arg)
c.4384T>C (p.Cys1462Arg)
c.4216+13794T>C (n.4216+13794T>C)
c.4492T>C (p.Cys1498Arg)
c.4465T>C (p.Cys1489Arg)
c.4334-15T>C (n.4334-15T>C)
c.4217-15T>C (n.4217-15T>C)
c.2899T>C (p.Cys967Arg)
n.4883T>C
n.4526+13794T>C
c.4456T>C (p.Cys1486Arg)
n.4899T>C
n.4660-15T>C
n.4542+13794T>C
2g.227008254A>TCA351140944COL4A4c.190-15T>A (n.190-15T>A)
c.4573T>A (p.Cys1525Ser)
c.4018T>A (p.Cys1340Ser)
c.4384T>A (p.Cys1462Ser)
c.4216+13794T>A (n.4216+13794T>A)
c.4492T>A (p.Cys1498Ser)
c.4465T>A (p.Cys1489Ser)
c.4334-15T>A (n.4334-15T>A)
c.4217-15T>A (n.4217-15T>A)
c.2899T>A (p.Cys967Ser)
n.4883T>A
n.4526+13794T>A
c.4456T>A (p.Cys1486Ser)
n.4899T>A
n.4660-15T>A
n.4542+13794T>A
2g.227008255G>ACA431671995COL4A4c.190-16C>T (n.190-16C>T)
c.4572C>T (p.Tyr1524=)
c.4017C>T (p.Tyr1339=)
c.4383C>T (p.Tyr1461=)
c.4216+13793C>T (n.4216+13793C>T)
c.4491C>T (p.Tyr1497=)
c.4464C>T (p.Tyr1488=)
c.4334-16C>T (n.4334-16C>T)
c.4217-16C>T (n.4217-16C>T)
c.2898C>T (p.Tyr966=)
n.4882C>T
n.4526+13793C>T
c.4455C>T (p.Tyr1485=)
n.4898C>T
n.4660-16C>T
n.4542+13793C>T
 ClinVar
2g.227008255G>CCA351140945COL4A4c.190-16C>G (n.190-16C>G)
c.4572C>G (p.Tyr1524Ter)
c.4017C>G (p.Tyr1339Ter)
c.4383C>G (p.Tyr1461Ter)
c.4216+13793C>G (n.4216+13793C>G)
c.4491C>G (p.Tyr1497Ter)
c.4464C>G (p.Tyr1488Ter)
c.4334-16C>G (n.4334-16C>G)
c.4217-16C>G (n.4217-16C>G)
c.2898C>G (p.Tyr966Ter)
n.4882C>G
n.4526+13793C>G
c.4455C>G (p.Tyr1485Ter)
n.4898C>G
n.4660-16C>G
n.4542+13793C>G
2g.227008255G>TCA351140946COL4A4c.190-16C>A (n.190-16C>A)
c.4572C>A (p.Tyr1524Ter)
c.4017C>A (p.Tyr1339Ter)
c.4383C>A (p.Tyr1461Ter)
c.4216+13793C>A (n.4216+13793C>A)
c.4491C>A (p.Tyr1497Ter)
c.4464C>A (p.Tyr1488Ter)
c.4334-16C>A (n.4334-16C>A)
c.4217-16C>A (n.4217-16C>A)
c.2898C>A (p.Tyr966Ter)
n.4882C>A
n.4526+13793C>A
c.4455C>A (p.Tyr1485Ter)
n.4898C>A
n.4660-16C>A
n.4542+13793C>A
 gnomAD v4
2g.227008256T>ACA351140949COL4A4c.190-17A>T (n.190-17A>T)
c.4571A>T (p.Tyr1524Phe)
c.4016A>T (p.Tyr1339Phe)
c.4382A>T (p.Tyr1461Phe)
c.4216+13792A>T (n.4216+13792A>T)
c.4490A>T (p.Tyr1497Phe)
c.4463A>T (p.Tyr1488Phe)
c.4334-17A>T (n.4334-17A>T)
c.4217-17A>T (n.4217-17A>T)
c.2897A>T (p.Tyr966Phe)
n.4881A>T
n.4526+13792A>T
c.4454A>T (p.Tyr1485Phe)
n.4897A>T
n.4660-17A>T
n.4542+13792A>T
2g.227008256T>CCA351140948COL4A4c.190-17A>G (n.190-17A>G)
c.4571A>G (p.Tyr1524Cys)
c.4016A>G (p.Tyr1339Cys)
c.4382A>G (p.Tyr1461Cys)
c.4216+13792A>G (n.4216+13792A>G)
c.4490A>G (p.Tyr1497Cys)
c.4463A>G (p.Tyr1488Cys)
c.4334-17A>G (n.4334-17A>G)
c.4217-17A>G (n.4217-17A>G)
c.2897A>G (p.Tyr966Cys)
n.4881A>G
n.4526+13792A>G
c.4454A>G (p.Tyr1485Cys)
n.4897A>G
n.4660-17A>G
n.4542+13792A>G
2g.227008256T>GCA351140947COL4A4c.190-17A>C (n.190-17A>C)
c.4571A>C (p.Tyr1524Ser)
c.4016A>C (p.Tyr1339Ser)
c.4382A>C (p.Tyr1461Ser)
c.4216+13792A>C (n.4216+13792A>C)
c.4490A>C (p.Tyr1497Ser)
c.4463A>C (p.Tyr1488Ser)
c.4334-17A>C (n.4334-17A>C)
c.4217-17A>C (n.4217-17A>C)
c.2897A>C (p.Tyr966Ser)
n.4881A>C
n.4526+13792A>C
c.4454A>C (p.Tyr1485Ser)
n.4897A>C
n.4660-17A>C
n.4542+13792A>C

Number of alleles fetched