Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227007354_227007376delCA2573135342COL4A4c.626_648del (p.Ala209ValfsTer8)
c.5024_5046del (p.Ala1675ValfsTer8)
c.4469_4491del (p.Ala1490ValfsTer8)
c.4835_4857del (p.Ala1612ValfsTer8)
c.4809+644_4809+666del (n.4809+644_4809+666del)
c.4216+14674_4216+14696del (n.4216+14674_4216+14696del)
c.4943_4965del (p.Ala1648ValfsTer8)
c.4916_4938del (p.Ala1639ValfsTer8)
c.3350_3372del (p.Ala1117ValfsTer8)
n.5119+644_5119+666del
n.4526+14674_4526+14696del
c.4907_4929del (p.Ala1636ValfsTer8)
n.5135+644_5135+666del
n.5096_5118del
n.4542+14674_4542+14696del
 ClinVar dbSNP
2g.227007375C>ACA351139957COL4A4c.625G>T (p.Ala209Ser)
c.5023G>T (p.Ala1675Ser)
c.4468G>T (p.Ala1490Ser)
c.4834G>T (p.Ala1612Ser)
c.4809+643G>T (n.4809+643G>T)
c.4216+14673G>T (n.4216+14673G>T)
c.4942G>T (p.Ala1648Ser)
c.4915G>T (p.Ala1639Ser)
c.3349G>T (p.Ala1117Ser)
n.5119+643G>T
n.4526+14673G>T
c.4906G>T (p.Ala1636Ser)
n.5135+643G>T
n.5095G>T
n.4542+14673G>T
 dbSNP
2g.227007375C=CA1332723558COL4A4c.625G= (p.Ala209=)
c.5023G= (p.Ala1675=)
c.4468G= (p.Ala1490=)
c.4834G= (p.Ala1612=)
c.4809+643G= (n.4809+643G=)
c.4216+14673G= (n.4216+14673G=)
c.4942G= (p.Ala1648=)
c.4915G= (p.Ala1639=)
c.3349G= (p.Ala1117=)
n.5119+643G=
n.4526+14673G=
c.4906G= (p.Ala1636=)
n.5135+643G=
n.5095G=
n.4542+14673G=
2g.227007375C>GCA351139958COL4A4c.625G>C (p.Ala209Pro)
c.5023G>C (p.Ala1675Pro)
c.4468G>C (p.Ala1490Pro)
c.4834G>C (p.Ala1612Pro)
c.4809+643G>C (n.4809+643G>C)
c.4216+14673G>C (n.4216+14673G>C)
c.4942G>C (p.Ala1648Pro)
c.4915G>C (p.Ala1639Pro)
c.3349G>C (p.Ala1117Pro)
n.5119+643G>C
n.4526+14673G>C
c.4906G>C (p.Ala1636Pro)
n.5135+643G>C
n.5095G>C
n.4542+14673G>C
2g.227007375C>TCA67238232COL4A4c.625G>A (p.Ala209Thr)
c.5023G>A (p.Ala1675Thr)
c.4468G>A (p.Ala1490Thr)
c.4834G>A (p.Ala1612Thr)
c.4809+643G>A (n.4809+643G>A)
c.4216+14673G>A (n.4216+14673G>A)
c.4942G>A (p.Ala1648Thr)
c.4915G>A (p.Ala1639Thr)
c.3349G>A (p.Ala1117Thr)
n.5119+643G>A
n.4526+14673G>A
c.4906G>A (p.Ala1636Thr)
n.5135+643G>A
n.5095G>A
n.4542+14673G>A
 dbSNP gnomAD v3 gnomAD v4
2g.227007376C>ACA351139959COL4A4c.624G>T (p.Gln208His)
c.5022G>T (p.Gln1674His)
c.4467G>T (p.Gln1489His)
c.4833G>T (p.Gln1611His)
c.4809+642G>T (n.4809+642G>T)
c.4216+14672G>T (n.4216+14672G>T)
c.4941G>T (p.Gln1647His)
c.4914G>T (p.Gln1638His)
c.3348G>T (p.Gln1116His)
n.5119+642G>T
n.4526+14672G>T
c.4905G>T (p.Gln1635His)
n.5135+642G>T
n.5094G>T
n.4542+14672G>T
 COSMIC
2g.227007376C>GCA351139960COL4A4c.624G>C (p.Gln208His)
c.5022G>C (p.Gln1674His)
c.4467G>C (p.Gln1489His)
c.4833G>C (p.Gln1611His)
c.4809+642G>C (n.4809+642G>C)
c.4216+14672G>C (n.4216+14672G>C)
c.4941G>C (p.Gln1647His)
c.4914G>C (p.Gln1638His)
c.3348G>C (p.Gln1116His)
n.5119+642G>C
n.4526+14672G>C
c.4905G>C (p.Gln1635His)
n.5135+642G>C
n.5094G>C
n.4542+14672G>C
2g.227007376C>TCA431671706COL4A4c.624G>A (p.Gln208=)
c.5022G>A (p.Gln1674=)
c.4467G>A (p.Gln1489=)
c.4833G>A (p.Gln1611=)
c.4809+642G>A (n.4809+642G>A)
c.4216+14672G>A (n.4216+14672G>A)
c.4941G>A (p.Gln1647=)
c.4914G>A (p.Gln1638=)
c.3348G>A (p.Gln1116=)
n.5119+642G>A
n.4526+14672G>A
c.4905G>A (p.Gln1635=)
n.5135+642G>A
n.5094G>A
n.4542+14672G>A
2g.227007377T>ACA351139961COL4A4c.623A>T (p.Gln208Leu)
c.5021A>T (p.Gln1674Leu)
c.4466A>T (p.Gln1489Leu)
c.4832A>T (p.Gln1611Leu)
c.4809+641A>T (n.4809+641A>T)
c.4216+14671A>T (n.4216+14671A>T)
c.4940A>T (p.Gln1647Leu)
c.4913A>T (p.Gln1638Leu)
c.3347A>T (p.Gln1116Leu)
n.5119+641A>T
n.4526+14671A>T
c.4904A>T (p.Gln1635Leu)
n.5135+641A>T
n.5093A>T
n.4542+14671A>T
2g.227007377T>CCA351139962COL4A4c.623A>G (p.Gln208Arg)
c.5021A>G (p.Gln1674Arg)
c.4466A>G (p.Gln1489Arg)
c.4832A>G (p.Gln1611Arg)
c.4809+641A>G (n.4809+641A>G)
c.4216+14671A>G (n.4216+14671A>G)
c.4940A>G (p.Gln1647Arg)
c.4913A>G (p.Gln1638Arg)
c.3347A>G (p.Gln1116Arg)
n.5119+641A>G
n.4526+14671A>G
c.4904A>G (p.Gln1635Arg)
n.5135+641A>G
n.5093A>G
n.4542+14671A>G
2g.227007377T>GCA351139963COL4A4c.623A>C (p.Gln208Pro)
c.5021A>C (p.Gln1674Pro)
c.4466A>C (p.Gln1489Pro)
c.4832A>C (p.Gln1611Pro)
c.4809+641A>C (n.4809+641A>C)
c.4216+14671A>C (n.4216+14671A>C)
c.4940A>C (p.Gln1647Pro)
c.4913A>C (p.Gln1638Pro)
c.3347A>C (p.Gln1116Pro)
n.5119+641A>C
n.4526+14671A>C
c.4904A>C (p.Gln1635Pro)
n.5135+641A>C
n.5093A>C
n.4542+14671A>C
2g.227007378G>ACA67238233COL4A4c.622C>T (p.Gln208Ter)
c.5020C>T (p.Gln1674Ter)
c.4465C>T (p.Gln1489Ter)
c.4831C>T (p.Gln1611Ter)
c.4809+640C>T (n.4809+640C>T)
c.4216+14670C>T (n.4216+14670C>T)
c.4939C>T (p.Gln1647Ter)
c.4912C>T (p.Gln1638Ter)
c.3346C>T (p.Gln1116Ter)
n.5119+640C>T
n.4526+14670C>T
c.4903C>T (p.Gln1635Ter)
n.5135+640C>T
n.5092C>T
n.4542+14670C>T
 dbSNP
2g.227007378G>CCA351139965COL4A4c.622C>G (p.Gln208Glu)
c.5020C>G (p.Gln1674Glu)
c.4465C>G (p.Gln1489Glu)
c.4831C>G (p.Gln1611Glu)
c.4809+640C>G (n.4809+640C>G)
c.4216+14670C>G (n.4216+14670C>G)
c.4939C>G (p.Gln1647Glu)
c.4912C>G (p.Gln1638Glu)
c.3346C>G (p.Gln1116Glu)
n.5119+640C>G
n.4526+14670C>G
c.4903C>G (p.Gln1635Glu)
n.5135+640C>G
n.5092C>G
n.4542+14670C>G
 dbSNP COSMIC
2g.227007378G=CA1332723559COL4A4c.622C= (p.Gln208=)
c.5020C= (p.Gln1674=)
c.4465C= (p.Gln1489=)
c.4831C= (p.Gln1611=)
c.4809+640C= (n.4809+640C=)
c.4216+14670C= (n.4216+14670C=)
c.4939C= (p.Gln1647=)
c.4912C= (p.Gln1638=)
c.3346C= (p.Gln1116=)
n.5119+640C=
n.4526+14670C=
c.4903C= (p.Gln1635=)
n.5135+640C=
n.5092C=
n.4542+14670C=
2g.227007378G>TCA351139964COL4A4c.622C>A (p.Gln208Lys)
c.5020C>A (p.Gln1674Lys)
c.4465C>A (p.Gln1489Lys)
c.4831C>A (p.Gln1611Lys)
c.4809+640C>A (n.4809+640C>A)
c.4216+14670C>A (n.4216+14670C>A)
c.4939C>A (p.Gln1647Lys)
c.4912C>A (p.Gln1638Lys)
c.3346C>A (p.Gln1116Lys)
n.5119+640C>A
n.4526+14670C>A
c.4903C>A (p.Gln1635Lys)
n.5135+640C>A
n.5092C>A
n.4542+14670C>A
2g.227007379G>ACA2143997COL4A4c.621C>T (p.Ser207=)
c.5019C>T (p.Ser1673=)
c.4464C>T (p.Ser1488=)
c.4830C>T (p.Ser1610=)
c.4809+639C>T (n.4809+639C>T)
c.4216+14669C>T (n.4216+14669C>T)
c.4938C>T (p.Ser1646=)
c.4911C>T (p.Ser1637=)
c.3345C>T (p.Ser1115=)
n.5119+639C>T
n.4526+14669C>T
c.4902C>T (p.Ser1634=)
n.5135+639C>T
n.5091C>T
n.4542+14669C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007379G>CCA351139966COL4A4c.621C>G (p.Ser207Arg)
c.5019C>G (p.Ser1673Arg)
c.4464C>G (p.Ser1488Arg)
c.4830C>G (p.Ser1610Arg)
c.4809+639C>G (n.4809+639C>G)
c.4216+14669C>G (n.4216+14669C>G)
c.4938C>G (p.Ser1646Arg)
c.4911C>G (p.Ser1637Arg)
c.3345C>G (p.Ser1115Arg)
n.5119+639C>G
n.4526+14669C>G
c.4902C>G (p.Ser1634Arg)
n.5135+639C>G
n.5091C>G
n.4542+14669C>G
 dbSNP
2g.227007379G=CA1332723560COL4A4c.621C= (p.Ser207=)
c.5019C= (p.Ser1673=)
c.4464C= (p.Ser1488=)
c.4830C= (p.Ser1610=)
c.4809+639C= (n.4809+639C=)
c.4216+14669C= (n.4216+14669C=)
c.4938C= (p.Ser1646=)
c.4911C= (p.Ser1637=)
c.3345C= (p.Ser1115=)
n.5119+639C=
n.4526+14669C=
c.4902C= (p.Ser1634=)
n.5135+639C=
n.5091C=
n.4542+14669C=
2g.227007379G>TCA351139967COL4A4c.621C>A (p.Ser207Arg)
c.5019C>A (p.Ser1673Arg)
c.4464C>A (p.Ser1488Arg)
c.4830C>A (p.Ser1610Arg)
c.4809+639C>A (n.4809+639C>A)
c.4216+14669C>A (n.4216+14669C>A)
c.4938C>A (p.Ser1646Arg)
c.4911C>A (p.Ser1637Arg)
c.3345C>A (p.Ser1115Arg)
n.5119+639C>A
n.4526+14669C>A
c.4902C>A (p.Ser1634Arg)
n.5135+639C>A
n.5091C>A
n.4542+14669C>A
2g.227007380delCA2580065875COL4A4c.620del (p.Ser207ThrfsTer15)
c.5018del (p.Ser1673ThrfsTer15)
c.4463del (p.Ser1488ThrfsTer15)
c.4829del (p.Ser1610ThrfsTer15)
c.4809+638del (n.4809+638del)
c.4216+14668del (n.4216+14668del)
c.4937del (p.Ser1646ThrfsTer15)
c.4910del (p.Ser1637ThrfsTer15)
c.3344del (p.Ser1115ThrfsTer15)
n.5119+638del
n.4526+14668del
c.4901del (p.Ser1634ThrfsTer15)
n.5135+638del
n.5090del
n.4542+14668del
 ClinVar
2g.227007380C>ACA351139968COL4A4c.620G>T (p.Ser207Ile)
c.5018G>T (p.Ser1673Ile)
c.4463G>T (p.Ser1488Ile)
c.4829G>T (p.Ser1610Ile)
c.4809+638G>T (n.4809+638G>T)
c.4216+14668G>T (n.4216+14668G>T)
c.4937G>T (p.Ser1646Ile)
c.4910G>T (p.Ser1637Ile)
c.3344G>T (p.Ser1115Ile)
n.5119+638G>T
n.4526+14668G>T
c.4901G>T (p.Ser1634Ile)
n.5135+638G>T
n.5090G>T
n.4542+14668G>T
2g.227007380C=CA1332723561COL4A4c.620G= (p.Ser207=)
c.5018G= (p.Ser1673=)
c.4463G= (p.Ser1488=)
c.4829G= (p.Ser1610=)
c.4809+638G= (n.4809+638G=)
c.4216+14668G= (n.4216+14668G=)
c.4937G= (p.Ser1646=)
c.4910G= (p.Ser1637=)
c.3344G= (p.Ser1115=)
n.5119+638G=
n.4526+14668G=
c.4901G= (p.Ser1634=)
n.5135+638G=
n.5090G=
n.4542+14668G=
2g.227007380C>GCA351139969COL4A4c.620G>C (p.Ser207Thr)
c.5018G>C (p.Ser1673Thr)
c.4463G>C (p.Ser1488Thr)
c.4829G>C (p.Ser1610Thr)
c.4809+638G>C (n.4809+638G>C)
c.4216+14668G>C (n.4216+14668G>C)
c.4937G>C (p.Ser1646Thr)
c.4910G>C (p.Ser1637Thr)
c.3344G>C (p.Ser1115Thr)
n.5119+638G>C
n.4526+14668G>C
c.4901G>C (p.Ser1634Thr)
n.5135+638G>C
n.5090G>C
n.4542+14668G>C
2g.227007380C>TCA351139970COL4A4c.620G>A (p.Ser207Asn)
c.5018G>A (p.Ser1673Asn)
c.4463G>A (p.Ser1488Asn)
c.4829G>A (p.Ser1610Asn)
c.4809+638G>A (n.4809+638G>A)
c.4216+14668G>A (n.4216+14668G>A)
c.4937G>A (p.Ser1646Asn)
c.4910G>A (p.Ser1637Asn)
c.3344G>A (p.Ser1115Asn)
n.5119+638G>A
n.4526+14668G>A
c.4901G>A (p.Ser1634Asn)
n.5135+638G>A
n.5090G>A
n.4542+14668G>A
 dbSNP gnomAD v2 gnomAD v4
2g.227007381T>ACA351139971COL4A4c.619A>T (p.Ser207Cys)
c.5017A>T (p.Ser1673Cys)
c.4462A>T (p.Ser1488Cys)
c.4828A>T (p.Ser1610Cys)
c.4809+637A>T (n.4809+637A>T)
c.4216+14667A>T (n.4216+14667A>T)
c.4936A>T (p.Ser1646Cys)
c.4909A>T (p.Ser1637Cys)
c.3343A>T (p.Ser1115Cys)
n.5119+637A>T
n.4526+14667A>T
c.4900A>T (p.Ser1634Cys)
n.5135+637A>T
n.5089A>T
n.4542+14667A>T
2g.227007381T>CCA351139972COL4A4c.619A>G (p.Ser207Gly)
c.5017A>G (p.Ser1673Gly)
c.4462A>G (p.Ser1488Gly)
c.4828A>G (p.Ser1610Gly)
c.4809+637A>G (n.4809+637A>G)
c.4216+14667A>G (n.4216+14667A>G)
c.4936A>G (p.Ser1646Gly)
c.4909A>G (p.Ser1637Gly)
c.3343A>G (p.Ser1115Gly)
n.5119+637A>G
n.4526+14667A>G
c.4900A>G (p.Ser1634Gly)
n.5135+637A>G
n.5089A>G
n.4542+14667A>G
2g.227007381T>GCA351139973COL4A4c.619A>C (p.Ser207Arg)
c.5017A>C (p.Ser1673Arg)
c.4462A>C (p.Ser1488Arg)
c.4828A>C (p.Ser1610Arg)
c.4809+637A>C (n.4809+637A>C)
c.4216+14667A>C (n.4216+14667A>C)
c.4936A>C (p.Ser1646Arg)
c.4909A>C (p.Ser1637Arg)
c.3343A>C (p.Ser1115Arg)
n.5119+637A>C
n.4526+14667A>C
c.4900A>C (p.Ser1634Arg)
n.5135+637A>C
n.5089A>C
n.4542+14667A>C
2g.227007382_227007383dupCA540312171COL4A4c.618_619dup (p.Ser207LysfsTer16)
c.5016_5017dup (p.Ser1673LysfsTer16)
c.4461_4462dup (p.Ser1488LysfsTer16)
c.4827_4828dup (p.Ser1610LysfsTer16)
c.4809+636_4809+637dup (n.4809+636_4809+637dup)
c.4216+14666_4216+14667dup (n.4216+14666_4216+14667dup)
c.4935_4936dup (p.Ser1646LysfsTer16)
c.4908_4909dup (p.Ser1637LysfsTer16)
c.3342_3343dup (p.Ser1115LysfsTer16)
n.5119+636_5119+637dup
n.4526+14666_4526+14667dup
c.4899_4900dup (p.Ser1634LysfsTer16)
n.5135+636_5135+637dup
n.5088_5089dup
n.4542+14666_4542+14667dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227007384_227007388delCA2586965581COL4A4c.615_619del (p.Glu206ProfsTer17)
c.5013_5017del (p.Glu1672ProfsTer17)
c.4458_4462del (p.Glu1487ProfsTer17)
c.4824_4828del (p.Glu1609ProfsTer17)
c.4809+633_4809+637del (n.4809+633_4809+637del)
c.4216+14663_4216+14667del (n.4216+14663_4216+14667del)
c.4932_4936del (p.Glu1645ProfsTer17)
c.4905_4909del (p.Glu1636ProfsTer17)
c.3339_3343del (p.Glu1114ProfsTer17)
n.5119+633_5119+637del
n.4526+14663_4526+14667del
c.4896_4900del (p.Glu1633ProfsTer17)
n.5135+633_5135+637del
n.5085_5089del
n.4542+14663_4542+14667del
 gnomAD v4
2g.227007382T>ACA351139974COL4A4c.618A>T (p.Glu206Asp)
c.5016A>T (p.Glu1672Asp)
c.4461A>T (p.Glu1487Asp)
c.4827A>T (p.Glu1609Asp)
c.4809+636A>T (n.4809+636A>T)
c.4216+14666A>T (n.4216+14666A>T)
c.4935A>T (p.Glu1645Asp)
c.4908A>T (p.Glu1636Asp)
c.3342A>T (p.Glu1114Asp)
n.5119+636A>T
n.4526+14666A>T
c.4899A>T (p.Glu1633Asp)
n.5135+636A>T
n.5088A>T
n.4542+14666A>T
2g.227007382T>CCA2143998COL4A4c.618A>G (p.Glu206=)
c.5016A>G (p.Glu1672=)
c.4461A>G (p.Glu1487=)
c.4827A>G (p.Glu1609=)
c.4809+636A>G (n.4809+636A>G)
c.4216+14666A>G (n.4216+14666A>G)
c.4935A>G (p.Glu1645=)
c.4908A>G (p.Glu1636=)
c.3342A>G (p.Glu1114=)
n.5119+636A>G
n.4526+14666A>G
c.4899A>G (p.Glu1633=)
n.5135+636A>G
n.5088A>G
n.4542+14666A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227007382T>GCA351139975COL4A4c.618A>C (p.Glu206Asp)
c.5016A>C (p.Glu1672Asp)
c.4461A>C (p.Glu1487Asp)
c.4827A>C (p.Glu1609Asp)
c.4809+636A>C (n.4809+636A>C)
c.4216+14666A>C (n.4216+14666A>C)
c.4935A>C (p.Glu1645Asp)
c.4908A>C (p.Glu1636Asp)
c.3342A>C (p.Glu1114Asp)
n.5119+636A>C
n.4526+14666A>C
c.4899A>C (p.Glu1633Asp)
n.5135+636A>C
n.5088A>C
n.4542+14666A>C
2g.227007382T=CA1332723562COL4A4c.618A= (p.Glu206=)
c.5016A= (p.Glu1672=)
c.4461A= (p.Glu1487=)
c.4827A= (p.Glu1609=)
c.4809+636A= (n.4809+636A=)
c.4216+14666A= (n.4216+14666A=)
c.4935A= (p.Glu1645=)
c.4908A= (p.Glu1636=)
c.3342A= (p.Glu1114=)
n.5119+636A=
n.4526+14666A=
c.4899A= (p.Glu1633=)
n.5135+636A=
n.5088A=
n.4542+14666A=
2g.227007383T>ACA351139977COL4A4c.617A>T (p.Glu206Val)
c.5015A>T (p.Glu1672Val)
c.4460A>T (p.Glu1487Val)
c.4826A>T (p.Glu1609Val)
c.4809+635A>T (n.4809+635A>T)
c.4216+14665A>T (n.4216+14665A>T)
c.4934A>T (p.Glu1645Val)
c.4907A>T (p.Glu1636Val)
c.3341A>T (p.Glu1114Val)
n.5119+635A>T
n.4526+14665A>T
c.4898A>T (p.Glu1633Val)
n.5135+635A>T
n.5087A>T
n.4542+14665A>T
2g.227007383T>CCA351139978COL4A4c.617A>G (p.Glu206Gly)
c.5015A>G (p.Glu1672Gly)
c.4460A>G (p.Glu1487Gly)
c.4826A>G (p.Glu1609Gly)
c.4809+635A>G (n.4809+635A>G)
c.4216+14665A>G (n.4216+14665A>G)
c.4934A>G (p.Glu1645Gly)
c.4907A>G (p.Glu1636Gly)
c.3341A>G (p.Glu1114Gly)
n.5119+635A>G
n.4526+14665A>G
c.4898A>G (p.Glu1633Gly)
n.5135+635A>G
n.5087A>G
n.4542+14665A>G
2g.227007383T>GCA351139976COL4A4c.617A>C (p.Glu206Ala)
c.5015A>C (p.Glu1672Ala)
c.4460A>C (p.Glu1487Ala)
c.4826A>C (p.Glu1609Ala)
c.4809+635A>C (n.4809+635A>C)
c.4216+14665A>C (n.4216+14665A>C)
c.4934A>C (p.Glu1645Ala)
c.4907A>C (p.Glu1636Ala)
c.3341A>C (p.Glu1114Ala)
n.5119+635A>C
n.4526+14665A>C
c.4898A>C (p.Glu1633Ala)
n.5135+635A>C
n.5087A>C
n.4542+14665A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227007383T=CA1332723563COL4A4c.617A= (p.Glu206=)
c.5015A= (p.Glu1672=)
c.4460A= (p.Glu1487=)
c.4826A= (p.Glu1609=)
c.4809+635A= (n.4809+635A=)
c.4216+14665A= (n.4216+14665A=)
c.4934A= (p.Glu1645=)
c.4907A= (p.Glu1636=)
c.3341A= (p.Glu1114=)
n.5119+635A=
n.4526+14665A=
c.4898A= (p.Glu1633=)
n.5135+635A=
n.5087A=
n.4542+14665A=
2g.227007384C>ACA351139979COL4A4c.616G>T (p.Glu206Ter)
c.5014G>T (p.Glu1672Ter)
c.4459G>T (p.Glu1487Ter)
c.4825G>T (p.Glu1609Ter)
c.4809+634G>T (n.4809+634G>T)
c.4216+14664G>T (n.4216+14664G>T)
c.4933G>T (p.Glu1645Ter)
c.4906G>T (p.Glu1636Ter)
c.3340G>T (p.Glu1114Ter)
n.5119+634G>T
n.4526+14664G>T
c.4897G>T (p.Glu1633Ter)
n.5135+634G>T
n.5086G>T
n.4542+14664G>T
2g.227007384C=CA1332723564COL4A4c.616G= (p.Glu206=)
c.5014G= (p.Glu1672=)
c.4459G= (p.Glu1487=)
c.4825G= (p.Glu1609=)
c.4809+634G= (n.4809+634G=)
c.4216+14664G= (n.4216+14664G=)
c.4933G= (p.Glu1645=)
c.4906G= (p.Glu1636=)
c.3340G= (p.Glu1114=)
n.5119+634G=
n.4526+14664G=
c.4897G= (p.Glu1633=)
n.5135+634G=
n.5086G=
n.4542+14664G=
2g.227007384C>GCA351139980COL4A4c.616G>C (p.Glu206Gln)
c.5014G>C (p.Glu1672Gln)
c.4459G>C (p.Glu1487Gln)
c.4825G>C (p.Glu1609Gln)
c.4809+634G>C (n.4809+634G>C)
c.4216+14664G>C (n.4216+14664G>C)
c.4933G>C (p.Glu1645Gln)
c.4906G>C (p.Glu1636Gln)
c.3340G>C (p.Glu1114Gln)
n.5119+634G>C
n.4526+14664G>C
c.4897G>C (p.Glu1633Gln)
n.5135+634G>C
n.5086G>C
n.4542+14664G>C
 dbSNP gnomAD v3 gnomAD v4
2g.227007384C>TCA351139981COL4A4c.616G>A (p.Glu206Lys)
c.5014G>A (p.Glu1672Lys)
c.4459G>A (p.Glu1487Lys)
c.4825G>A (p.Glu1609Lys)
c.4809+634G>A (n.4809+634G>A)
c.4216+14664G>A (n.4216+14664G>A)
c.4933G>A (p.Glu1645Lys)
c.4906G>A (p.Glu1636Lys)
c.3340G>A (p.Glu1114Lys)
n.5119+634G>A
n.4526+14664G>A
c.4897G>A (p.Glu1633Lys)
n.5135+634G>A
n.5086G>A
n.4542+14664G>A
2g.227007385T>ACA351139982COL4A4c.615A>T (p.Lys205Asn)
c.5013A>T (p.Lys1671Asn)
c.4458A>T (p.Lys1486Asn)
c.4824A>T (p.Lys1608Asn)
c.4809+633A>T (n.4809+633A>T)
c.4216+14663A>T (n.4216+14663A>T)
c.4932A>T (p.Lys1644Asn)
c.4905A>T (p.Lys1635Asn)
c.3339A>T (p.Lys1113Asn)
n.5119+633A>T
n.4526+14663A>T
c.4896A>T (p.Lys1632Asn)
n.5135+633A>T
n.5085A>T
n.4542+14663A>T
2g.227007385T>CCA431671718COL4A4c.615A>G (p.Lys205=)
c.5013A>G (p.Lys1671=)
c.4458A>G (p.Lys1486=)
c.4824A>G (p.Lys1608=)
c.4809+633A>G (n.4809+633A>G)
c.4216+14663A>G (n.4216+14663A>G)
c.4932A>G (p.Lys1644=)
c.4905A>G (p.Lys1635=)
c.3339A>G (p.Lys1113=)
n.5119+633A>G
n.4526+14663A>G
c.4896A>G (p.Lys1632=)
n.5135+633A>G
n.5085A>G
n.4542+14663A>G
 gnomAD v4 COSMIC
2g.227007385T>GCA351139983COL4A4c.615A>C (p.Lys205Asn)
c.5013A>C (p.Lys1671Asn)
c.4458A>C (p.Lys1486Asn)
c.4824A>C (p.Lys1608Asn)
c.4809+633A>C (n.4809+633A>C)
c.4216+14663A>C (n.4216+14663A>C)
c.4932A>C (p.Lys1644Asn)
c.4905A>C (p.Lys1635Asn)
c.3339A>C (p.Lys1113Asn)
n.5119+633A>C
n.4526+14663A>C
c.4896A>C (p.Lys1632Asn)
n.5135+633A>C
n.5085A>C
n.4542+14663A>C
2g.227007386T>ACA351139984COL4A4c.614A>T (p.Lys205Ile)
c.5012A>T (p.Lys1671Ile)
c.4457A>T (p.Lys1486Ile)
c.4823A>T (p.Lys1608Ile)
c.4809+632A>T (n.4809+632A>T)
c.4216+14662A>T (n.4216+14662A>T)
c.4931A>T (p.Lys1644Ile)
c.4904A>T (p.Lys1635Ile)
c.3338A>T (p.Lys1113Ile)
n.5119+632A>T
n.4526+14662A>T
c.4895A>T (p.Lys1632Ile)
n.5135+632A>T
n.5084A>T
n.4542+14662A>T
2g.227007386T>CCA351139985COL4A4c.614A>G (p.Lys205Arg)
c.5012A>G (p.Lys1671Arg)
c.4457A>G (p.Lys1486Arg)
c.4823A>G (p.Lys1608Arg)
c.4809+632A>G (n.4809+632A>G)
c.4216+14662A>G (n.4216+14662A>G)
c.4931A>G (p.Lys1644Arg)
c.4904A>G (p.Lys1635Arg)
c.3338A>G (p.Lys1113Arg)
n.5119+632A>G
n.4526+14662A>G
c.4895A>G (p.Lys1632Arg)
n.5135+632A>G
n.5084A>G
n.4542+14662A>G
2g.227007386T>GCA351139986COL4A4c.614A>C (p.Lys205Thr)
c.5012A>C (p.Lys1671Thr)
c.4457A>C (p.Lys1486Thr)
c.4823A>C (p.Lys1608Thr)
c.4809+632A>C (n.4809+632A>C)
c.4216+14662A>C (n.4216+14662A>C)
c.4931A>C (p.Lys1644Thr)
c.4904A>C (p.Lys1635Thr)
c.3338A>C (p.Lys1113Thr)
n.5119+632A>C
n.4526+14662A>C
c.4895A>C (p.Lys1632Thr)
n.5135+632A>C
n.5084A>C
n.4542+14662A>C
2g.227007387T>ACA351139987COL4A4c.613A>T (p.Lys205Ter)
c.5011A>T (p.Lys1671Ter)
c.4456A>T (p.Lys1486Ter)
c.4822A>T (p.Lys1608Ter)
c.4809+631A>T (n.4809+631A>T)
c.4216+14661A>T (n.4216+14661A>T)
c.4930A>T (p.Lys1644Ter)
c.4903A>T (p.Lys1635Ter)
c.3337A>T (p.Lys1113Ter)
n.5119+631A>T
n.4526+14661A>T
c.4894A>T (p.Lys1632Ter)
n.5135+631A>T
n.5083A>T
n.4542+14661A>T
2g.227007387T>CCA351139988COL4A4c.613A>G (p.Lys205Glu)
c.5011A>G (p.Lys1671Glu)
c.4456A>G (p.Lys1486Glu)
c.4822A>G (p.Lys1608Glu)
c.4809+631A>G (n.4809+631A>G)
c.4216+14661A>G (n.4216+14661A>G)
c.4930A>G (p.Lys1644Glu)
c.4903A>G (p.Lys1635Glu)
c.3337A>G (p.Lys1113Glu)
n.5119+631A>G
n.4526+14661A>G
c.4894A>G (p.Lys1632Glu)
n.5135+631A>G
n.5083A>G
n.4542+14661A>G
2g.227007387T>GCA351139989COL4A4c.613A>C (p.Lys205Gln)
c.5011A>C (p.Lys1671Gln)
c.4456A>C (p.Lys1486Gln)
c.4822A>C (p.Lys1608Gln)
c.4809+631A>C (n.4809+631A>C)
c.4216+14661A>C (n.4216+14661A>C)
c.4930A>C (p.Lys1644Gln)
c.4903A>C (p.Lys1635Gln)
c.3337A>C (p.Lys1113Gln)
n.5119+631A>C
n.4526+14661A>C
c.4894A>C (p.Lys1632Gln)
n.5135+631A>C
n.5083A>C
n.4542+14661A>C

Number of alleles fetched