Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108695330_108695343dupCA2695235251COL4A5c.4885_4898dup (p.Pro1634SerfsTer30)
c.4867_4880dup (p.Pro1628SerfsTer30)
n.1379_1392dup
n.1716_1729dup
c.219+409_219+422dup (n.219+409_219+422dup)
c.325-967_325-954dup
c.4876_4889dup (p.Pro1631SerfsTer30)
c.4561_4574dup (p.Pro1526SerfsTer30)
c.2458_2471dup (p.Pro825SerfsTer30)
c.4900_4913dup (p.Pro1639SerfsTer30)
c.4891_4904dup (p.Pro1636SerfsTer30)
c.4882_4895dup (p.Pro1633SerfsTer30)
c.3220_3233dup (p.Pro1079SerfsTer30)
Xg.108695337_108695340delCA2739273724COL4A5c.4892_4895del (p.Arg1631GlnfsTer27)
c.4874_4877del (p.Arg1625GlnfsTer27)
n.1386_1389del
n.1723_1726del
c.219+416_219+419del (n.219+416_219+419del)
c.325-960_325-957del
c.4883_4886del (p.Arg1628GlnfsTer27)
c.4568_4571del (p.Arg1523GlnfsTer27)
c.2465_2468del (p.Arg822GlnfsTer27)
c.4907_4910del (p.Arg1636GlnfsTer27)
c.4898_4901del (p.Arg1633GlnfsTer27)
c.4889_4892del (p.Arg1630GlnfsTer27)
c.3227_3230del (p.Arg1076GlnfsTer27)
 ClinVar
Xg.108695339T>ACA414132789COL4A5c.4894T>A (p.Ser1632Thr)
c.4876T>A (p.Ser1626Thr)
n.1388T>A
n.1725T>A
c.219+418T>A (n.219+418T>A)
c.325-958T>A
c.4885T>A (p.Ser1629Thr)
c.4570T>A (p.Ser1524Thr)
c.2467T>A (p.Ser823Thr)
c.4909T>A (p.Ser1637Thr)
c.4900T>A (p.Ser1634Thr)
c.4891T>A (p.Ser1631Thr)
c.3229T>A (p.Ser1077Thr)
Xg.108695339T>CCA414132790COL4A5c.4894T>C (p.Ser1632Pro)
c.4876T>C (p.Ser1626Pro)
n.1388T>C
n.1725T>C
c.219+418T>C (n.219+418T>C)
c.325-958T>C
c.4885T>C (p.Ser1629Pro)
c.4570T>C (p.Ser1524Pro)
c.2467T>C (p.Ser823Pro)
c.4909T>C (p.Ser1637Pro)
c.4900T>C (p.Ser1634Pro)
c.4891T>C (p.Ser1631Pro)
c.3229T>C (p.Ser1077Pro)
 gnomAD v4
Xg.108695339T>GCA414132791COL4A5c.4894T>G (p.Ser1632Ala)
c.4876T>G (p.Ser1626Ala)
n.1388T>G
n.1725T>G
c.219+418T>G (n.219+418T>G)
c.325-958T>G
c.4885T>G (p.Ser1629Ala)
c.4570T>G (p.Ser1524Ala)
c.2467T>G (p.Ser823Ala)
c.4909T>G (p.Ser1637Ala)
c.4900T>G (p.Ser1634Ala)
c.4891T>G (p.Ser1631Ala)
c.3229T>G (p.Ser1077Ala)
Xg.108695340C>ACA414132792COL4A5c.4895C>A (p.Ser1632Ter)
c.4877C>A (p.Ser1626Ter)
n.1389C>A
n.1726C>A
c.219+419C>A (n.219+419C>A)
c.325-957C>A
c.4886C>A (p.Ser1629Ter)
c.4571C>A (p.Ser1524Ter)
c.2468C>A (p.Ser823Ter)
c.4910C>A (p.Ser1637Ter)
c.4901C>A (p.Ser1634Ter)
c.4892C>A (p.Ser1631Ter)
c.3230C>A (p.Ser1077Ter)
Xg.108695340C=CA2450721749COL4A5c.4895C= (p.Ser1632=)
c.4877C= (p.Ser1626=)
n.1389C=
n.1726C=
c.219+419C= (n.219+419C=)
c.325-957C=
c.4886C= (p.Ser1629=)
c.4571C= (p.Ser1524=)
c.2468C= (p.Ser823=)
c.4910C= (p.Ser1637=)
c.4901C= (p.Ser1634=)
c.4892C= (p.Ser1631=)
c.3230C= (p.Ser1077=)
Xg.108695340C>GCA414132793COL4A5c.4895C>G (p.Ser1632Ter)
c.4877C>G (p.Ser1626Ter)
n.1389C>G
n.1726C>G
c.219+419C>G (n.219+419C>G)
c.325-957C>G
c.4886C>G (p.Ser1629Ter)
c.4571C>G (p.Ser1524Ter)
c.2468C>G (p.Ser823Ter)
c.4910C>G (p.Ser1637Ter)
c.4901C>G (p.Ser1634Ter)
c.4892C>G (p.Ser1631Ter)
c.3230C>G (p.Ser1077Ter)
Xg.108695340C>TCA414132794COL4A5c.4895C>T (p.Ser1632Leu)
c.4877C>T (p.Ser1626Leu)
n.1389C>T
n.1726C>T
c.219+419C>T (n.219+419C>T)
c.325-957C>T
c.4886C>T (p.Ser1629Leu)
c.4571C>T (p.Ser1524Leu)
c.2468C>T (p.Ser823Leu)
c.4910C>T (p.Ser1637Leu)
c.4901C>T (p.Ser1634Leu)
c.4892C>T (p.Ser1631Leu)
c.3230C>T (p.Ser1077Leu)
 ClinVar dbSNP
Xg.108695341A>CCA517926107COL4A5c.4896A>C (p.Ser1632=)
c.4878A>C (p.Ser1626=)
n.1390A>C
n.1727A>C
c.219+420A>C (n.219+420A>C)
c.325-956A>C
c.4887A>C (p.Ser1629=)
c.4572A>C (p.Ser1524=)
c.2469A>C (p.Ser823=)
c.4911A>C (p.Ser1637=)
c.4902A>C (p.Ser1634=)
c.4893A>C (p.Ser1631=)
c.3231A>C (p.Ser1077=)
Xg.108695341A>GCA517926108COL4A5c.4896A>G (p.Ser1632=)
c.4878A>G (p.Ser1626=)
n.1390A>G
n.1727A>G
c.219+420A>G (n.219+420A>G)
c.325-956A>G
c.4887A>G (p.Ser1629=)
c.4572A>G (p.Ser1524=)
c.2469A>G (p.Ser823=)
c.4911A>G (p.Ser1637=)
c.4902A>G (p.Ser1634=)
c.4893A>G (p.Ser1631=)
c.3231A>G (p.Ser1077=)
 ClinVar dbSNP
Xg.108695341A>TCA517926109COL4A5c.4896A>T (p.Ser1632=)
c.4878A>T (p.Ser1626=)
n.1390A>T
n.1727A>T
c.219+420A>T (n.219+420A>T)
c.325-956A>T
c.4887A>T (p.Ser1629=)
c.4572A>T (p.Ser1524=)
c.2469A>T (p.Ser823=)
c.4911A>T (p.Ser1637=)
c.4902A>T (p.Ser1634=)
c.4893A>T (p.Ser1631=)
c.3231A>T (p.Ser1077=)
Xg.108695342G>ACA414132795COL4A5c.4897G>A (p.Ala1633Thr)
c.4879G>A (p.Ala1627Thr)
n.1391G>A
n.1728G>A
c.219+421G>A (n.219+421G>A)
c.325-955G>A
c.4888G>A (p.Ala1630Thr)
c.4573G>A (p.Ala1525Thr)
c.2470G>A (p.Ala824Thr)
c.4912G>A (p.Ala1638Thr)
c.4903G>A (p.Ala1635Thr)
c.4894G>A (p.Ala1632Thr)
c.3232G>A (p.Ala1078Thr)
Xg.108695342G>CCA414132796COL4A5c.4897G>C (p.Ala1633Pro)
c.4879G>C (p.Ala1627Pro)
n.1391G>C
n.1728G>C
c.219+421G>C (n.219+421G>C)
c.325-955G>C
c.4888G>C (p.Ala1630Pro)
c.4573G>C (p.Ala1525Pro)
c.2470G>C (p.Ala824Pro)
c.4912G>C (p.Ala1638Pro)
c.4903G>C (p.Ala1635Pro)
c.4894G>C (p.Ala1632Pro)
c.3232G>C (p.Ala1078Pro)
Xg.108695342G>TCA414132797COL4A5c.4897G>T (p.Ala1633Ser)
c.4879G>T (p.Ala1627Ser)
n.1391G>T
n.1728G>T
c.219+421G>T (n.219+421G>T)
c.325-955G>T
c.4888G>T (p.Ala1630Ser)
c.4573G>T (p.Ala1525Ser)
c.2470G>T (p.Ala824Ser)
c.4912G>T (p.Ala1638Ser)
c.4903G>T (p.Ala1635Ser)
c.4894G>T (p.Ala1632Ser)
c.3232G>T (p.Ala1078Ser)
Xg.108695342_108695346delinsGCTCCCA2450721750COL4A5c.4897_4901delinsGCTCC (p.Ala1633=)
c.4879_4883delinsGCTCC (p.Ala1627=)
n.1391_1395delinsGCTCC
n.1728_1732delinsGCTCC
c.219+421_219+425delinsGCTCC (n.219+421_219+425delinsGCTCC)
c.325-955_325-951delinsGCTCC
c.4888_4892delinsGCTCC (p.Ala1630=)
c.4573_4577delinsGCTCC (p.Ala1525=)
c.2470_2474delinsGCTCC (p.Ala824=)
c.4912_4916delinsGCTCC (p.Ala1638=)
c.4903_4907delinsGCTCC (p.Ala1635=)
c.4894_4898delinsGCTCC (p.Ala1632=)
c.3232_3236delinsGCTCC (p.Ala1078=)
Xg.108695343C>ACA414132799COL4A5c.4898C>A (p.Ala1633Asp)
c.4880C>A (p.Ala1627Asp)
n.1392C>A
n.1729C>A
c.219+422C>A (n.219+422C>A)
c.325-954C>A
c.4889C>A (p.Ala1630Asp)
c.4574C>A (p.Ala1525Asp)
c.2471C>A (p.Ala824Asp)
c.4913C>A (p.Ala1638Asp)
c.4904C>A (p.Ala1635Asp)
c.4895C>A (p.Ala1632Asp)
c.3233C>A (p.Ala1078Asp)
Xg.108695343C=CA2450721751COL4A5c.4898C= (p.Ala1633=)
c.4880C= (p.Ala1627=)
n.1392C=
n.1729C=
c.219+422C= (n.219+422C=)
c.325-954C=
c.4889C= (p.Ala1630=)
c.4574C= (p.Ala1525=)
c.2471C= (p.Ala824=)
c.4913C= (p.Ala1638=)
c.4904C= (p.Ala1635=)
c.4895C= (p.Ala1632=)
c.3233C= (p.Ala1078=)
Xg.108695343C>GCA414132798COL4A5c.4898C>G (p.Ala1633Gly)
c.4880C>G (p.Ala1627Gly)
n.1392C>G
n.1729C>G
c.219+422C>G (n.219+422C>G)
c.325-954C>G
c.4889C>G (p.Ala1630Gly)
c.4574C>G (p.Ala1525Gly)
c.2471C>G (p.Ala824Gly)
c.4913C>G (p.Ala1638Gly)
c.4904C>G (p.Ala1635Gly)
c.4895C>G (p.Ala1632Gly)
c.3233C>G (p.Ala1078Gly)
Xg.108695343C>TCA334063356COL4A5c.4898C>T (p.Ala1633Val)
c.4880C>T (p.Ala1627Val)
n.1392C>T
n.1729C>T
c.219+422C>T (n.219+422C>T)
c.325-954C>T
c.4889C>T (p.Ala1630Val)
c.4574C>T (p.Ala1525Val)
c.2471C>T (p.Ala824Val)
c.4913C>T (p.Ala1638Val)
c.4904C>T (p.Ala1635Val)
c.4895C>T (p.Ala1632Val)
c.3233C>T (p.Ala1078Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.108695345_108695348delCA10588942COL4A5c.4900_4903del (p.Pro1634SerfsTer24)
c.4882_4885del (p.Pro1628SerfsTer24)
n.1394_1397del
n.1731_1734del
c.219+424_219+427del (n.219+424_219+427del)
c.325-952_325-949del
c.4891_4894del (p.Pro1631SerfsTer24)
c.4576_4579del (p.Pro1526SerfsTer24)
c.2473_2476del (p.Pro825SerfsTer24)
c.4915_4918del (p.Pro1639SerfsTer24)
c.4906_4909del (p.Pro1636SerfsTer24)
c.4897_4900del (p.Pro1633SerfsTer24)
c.3235_3238del (p.Pro1079SerfsTer24)
 ClinVar dbSNP
Xg.108695344T>ACA517926110COL4A5c.4899T>A (p.Ala1633=)
c.4881T>A (p.Ala1627=)
n.1393T>A
n.1730T>A
c.219+423T>A (n.219+423T>A)
c.325-953T>A
c.4890T>A (p.Ala1630=)
c.4575T>A (p.Ala1525=)
c.2472T>A (p.Ala824=)
c.4914T>A (p.Ala1638=)
c.4905T>A (p.Ala1635=)
c.4896T>A (p.Ala1632=)
c.3234T>A (p.Ala1078=)
Xg.108695344T>CCA517926111COL4A5c.4899T>C (p.Ala1633=)
c.4881T>C (p.Ala1627=)
n.1393T>C
n.1730T>C
c.219+423T>C (n.219+423T>C)
c.325-953T>C
c.4890T>C (p.Ala1630=)
c.4575T>C (p.Ala1525=)
c.2472T>C (p.Ala824=)
c.4914T>C (p.Ala1638=)
c.4905T>C (p.Ala1635=)
c.4896T>C (p.Ala1632=)
c.3234T>C (p.Ala1078=)
Xg.108695344T>GCA517926112COL4A5c.4899T>G (p.Ala1633=)
c.4881T>G (p.Ala1627=)
n.1393T>G
n.1730T>G
c.219+423T>G (n.219+423T>G)
c.325-953T>G
c.4890T>G (p.Ala1630=)
c.4575T>G (p.Ala1525=)
c.2472T>G (p.Ala824=)
c.4914T>G (p.Ala1638=)
c.4905T>G (p.Ala1635=)
c.4896T>G (p.Ala1632=)
c.3234T>G (p.Ala1078=)
Xg.108695345C>ACA414132800COL4A5c.4900C>A (p.Pro1634Thr)
c.4882C>A (p.Pro1628Thr)
n.1394C>A
n.1731C>A
c.219+424C>A (n.219+424C>A)
c.325-952C>A
c.4891C>A (p.Pro1631Thr)
c.4576C>A (p.Pro1526Thr)
c.2473C>A (p.Pro825Thr)
c.4915C>A (p.Pro1639Thr)
c.4906C>A (p.Pro1636Thr)
c.4897C>A (p.Pro1633Thr)
c.3235C>A (p.Pro1079Thr)
Xg.108695345C>GCA414132801COL4A5c.4900C>G (p.Pro1634Ala)
c.4882C>G (p.Pro1628Ala)
n.1394C>G
n.1731C>G
c.219+424C>G (n.219+424C>G)
c.325-952C>G
c.4891C>G (p.Pro1631Ala)
c.4576C>G (p.Pro1526Ala)
c.2473C>G (p.Pro825Ala)
c.4915C>G (p.Pro1639Ala)
c.4906C>G (p.Pro1636Ala)
c.4897C>G (p.Pro1633Ala)
c.3235C>G (p.Pro1079Ala)
Xg.108695345C>TCA414132802COL4A5c.4900C>T (p.Pro1634Ser)
c.4882C>T (p.Pro1628Ser)
n.1394C>T
n.1731C>T
c.219+424C>T (n.219+424C>T)
c.325-952C>T
c.4891C>T (p.Pro1631Ser)
c.4576C>T (p.Pro1526Ser)
c.2473C>T (p.Pro825Ser)
c.4915C>T (p.Pro1639Ser)
c.4906C>T (p.Pro1636Ser)
c.4897C>T (p.Pro1633Ser)
c.3235C>T (p.Pro1079Ser)
 COSMIC COSMIC
Xg.108695346C>ACA414132803COL4A5c.4901C>A (p.Pro1634His)
c.4883C>A (p.Pro1628His)
n.1395C>A
n.1732C>A
c.219+425C>A (n.219+425C>A)
c.325-951C>A
c.4892C>A (p.Pro1631His)
c.4577C>A (p.Pro1526His)
c.2474C>A (p.Pro825His)
c.4916C>A (p.Pro1639His)
c.4907C>A (p.Pro1636His)
c.4898C>A (p.Pro1633His)
c.3236C>A (p.Pro1079His)
Xg.108695346C>GCA414132804COL4A5c.4901C>G (p.Pro1634Arg)
c.4883C>G (p.Pro1628Arg)
n.1395C>G
n.1732C>G
c.219+425C>G (n.219+425C>G)
c.325-951C>G
c.4892C>G (p.Pro1631Arg)
c.4577C>G (p.Pro1526Arg)
c.2474C>G (p.Pro825Arg)
c.4916C>G (p.Pro1639Arg)
c.4907C>G (p.Pro1636Arg)
c.4898C>G (p.Pro1633Arg)
c.3236C>G (p.Pro1079Arg)
Xg.108695346C>TCA414132805COL4A5c.4901C>T (p.Pro1634Leu)
c.4883C>T (p.Pro1628Leu)
n.1395C>T
n.1732C>T
c.219+425C>T (n.219+425C>T)
c.325-951C>T
c.4892C>T (p.Pro1631Leu)
c.4577C>T (p.Pro1526Leu)
c.2474C>T (p.Pro825Leu)
c.4916C>T (p.Pro1639Leu)
c.4907C>T (p.Pro1636Leu)
c.4898C>T (p.Pro1633Leu)
c.3236C>T (p.Pro1079Leu)
 COSMIC COSMIC
Xg.108695347C>ACA517926115COL4A5c.4902C>A (p.Pro1634=)
c.4884C>A (p.Pro1628=)
n.1396C>A
n.1733C>A
c.219+426C>A (n.219+426C>A)
c.325-950C>A
c.4893C>A (p.Pro1631=)
c.4578C>A (p.Pro1526=)
c.2475C>A (p.Pro825=)
c.4917C>A (p.Pro1639=)
c.4908C>A (p.Pro1636=)
c.4899C>A (p.Pro1633=)
c.3237C>A (p.Pro1079=)
Xg.108695347C=CA2450721752COL4A5c.4902C= (p.Pro1634=)
c.4884C= (p.Pro1628=)
n.1396C=
n.1733C=
c.219+426C= (n.219+426C=)
c.325-950C=
c.4893C= (p.Pro1631=)
c.4578C= (p.Pro1526=)
c.2475C= (p.Pro825=)
c.4917C= (p.Pro1639=)
c.4908C= (p.Pro1636=)
c.4899C= (p.Pro1633=)
c.3237C= (p.Pro1079=)
Xg.108695347C>GCA517926114COL4A5c.4902C>G (p.Pro1634=)
c.4884C>G (p.Pro1628=)
n.1396C>G
n.1733C>G
c.219+426C>G (n.219+426C>G)
c.325-950C>G
c.4893C>G (p.Pro1631=)
c.4578C>G (p.Pro1526=)
c.2475C>G (p.Pro825=)
c.4917C>G (p.Pro1639=)
c.4908C>G (p.Pro1636=)
c.4899C>G (p.Pro1633=)
c.3237C>G (p.Pro1079=)
Xg.108695347C>TCA517926113COL4A5c.4902C>T (p.Pro1634=)
c.4884C>T (p.Pro1628=)
n.1396C>T
n.1733C>T
c.219+426C>T (n.219+426C>T)
c.325-950C>T
c.4893C>T (p.Pro1631=)
c.4578C>T (p.Pro1526=)
c.2475C>T (p.Pro825=)
c.4917C>T (p.Pro1639=)
c.4908C>T (p.Pro1636=)
c.4899C>T (p.Pro1633=)
c.3237C>T (p.Pro1079=)
 ClinVar dbSNP gnomAD v4
Xg.108695348T>ACA414132806COL4A5c.4903T>A (p.Phe1635Ile)
c.4885T>A (p.Phe1629Ile)
n.1397T>A
n.1734T>A
c.219+427T>A (n.219+427T>A)
c.325-949T>A
c.4894T>A (p.Phe1632Ile)
c.4579T>A (p.Phe1527Ile)
c.2476T>A (p.Phe826Ile)
c.4918T>A (p.Phe1640Ile)
c.4909T>A (p.Phe1637Ile)
c.4900T>A (p.Phe1634Ile)
c.3238T>A (p.Phe1080Ile)
Xg.108695348T>CCA414132807COL4A5c.4903T>C (p.Phe1635Leu)
c.4885T>C (p.Phe1629Leu)
n.1397T>C
n.1734T>C
c.219+427T>C (n.219+427T>C)
c.325-949T>C
c.4894T>C (p.Phe1632Leu)
c.4579T>C (p.Phe1527Leu)
c.2476T>C (p.Phe826Leu)
c.4918T>C (p.Phe1640Leu)
c.4909T>C (p.Phe1637Leu)
c.4900T>C (p.Phe1634Leu)
c.3238T>C (p.Phe1080Leu)
Xg.108695348T>GCA414132808COL4A5c.4903T>G (p.Phe1635Val)
c.4885T>G (p.Phe1629Val)
n.1397T>G
n.1734T>G
c.219+427T>G (n.219+427T>G)
c.325-949T>G
c.4894T>G (p.Phe1632Val)
c.4579T>G (p.Phe1527Val)
c.2476T>G (p.Phe826Val)
c.4918T>G (p.Phe1640Val)
c.4909T>G (p.Phe1637Val)
c.4900T>G (p.Phe1634Val)
c.3238T>G (p.Phe1080Val)
Xg.108695349T>ACA414132809COL4A5c.4904T>A (p.Phe1635Tyr)
c.4886T>A (p.Phe1629Tyr)
n.1398T>A
n.1735T>A
c.219+428T>A (n.219+428T>A)
c.325-948T>A
c.4895T>A (p.Phe1632Tyr)
c.4580T>A (p.Phe1527Tyr)
c.2477T>A (p.Phe826Tyr)
c.4919T>A (p.Phe1640Tyr)
c.4910T>A (p.Phe1637Tyr)
c.4901T>A (p.Phe1634Tyr)
c.3239T>A (p.Phe1080Tyr)
Xg.108695349T>CCA414132810COL4A5c.4904T>C (p.Phe1635Ser)
c.4886T>C (p.Phe1629Ser)
n.1398T>C
n.1735T>C
c.219+428T>C (n.219+428T>C)
c.325-948T>C
c.4895T>C (p.Phe1632Ser)
c.4580T>C (p.Phe1527Ser)
c.2477T>C (p.Phe826Ser)
c.4919T>C (p.Phe1640Ser)
c.4910T>C (p.Phe1637Ser)
c.4901T>C (p.Phe1634Ser)
c.3239T>C (p.Phe1080Ser)
Xg.108695349T>GCA414132811COL4A5c.4904T>G (p.Phe1635Cys)
c.4886T>G (p.Phe1629Cys)
n.1398T>G
n.1735T>G
c.219+428T>G (n.219+428T>G)
c.325-948T>G
c.4895T>G (p.Phe1632Cys)
c.4580T>G (p.Phe1527Cys)
c.2477T>G (p.Phe826Cys)
c.4919T>G (p.Phe1640Cys)
c.4910T>G (p.Phe1637Cys)
c.4901T>G (p.Phe1634Cys)
c.3239T>G (p.Phe1080Cys)
Xg.108695350C>ACA414132813COL4A5c.4905C>A (p.Phe1635Leu)
c.4887C>A (p.Phe1629Leu)
n.1399C>A
n.1736C>A
c.219+429C>A (n.219+429C>A)
c.325-947C>A
c.4896C>A (p.Phe1632Leu)
c.4581C>A (p.Phe1527Leu)
c.2478C>A (p.Phe826Leu)
c.4920C>A (p.Phe1640Leu)
c.4911C>A (p.Phe1637Leu)
c.4902C>A (p.Phe1634Leu)
c.3240C>A (p.Phe1080Leu)
Xg.108695350C=CA2450721753COL4A5c.4905C= (p.Phe1635=)
c.4887C= (p.Phe1629=)
n.1399C=
n.1736C=
c.219+429C= (n.219+429C=)
c.325-947C=
c.4896C= (p.Phe1632=)
c.4581C= (p.Phe1527=)
c.2478C= (p.Phe826=)
c.4920C= (p.Phe1640=)
c.4911C= (p.Phe1637=)
c.4902C= (p.Phe1634=)
c.3240C= (p.Phe1080=)
Xg.108695350C>GCA414132812COL4A5c.4905C>G (p.Phe1635Leu)
c.4887C>G (p.Phe1629Leu)
n.1399C>G
n.1736C>G
c.219+429C>G (n.219+429C>G)
c.325-947C>G
c.4896C>G (p.Phe1632Leu)
c.4581C>G (p.Phe1527Leu)
c.2478C>G (p.Phe826Leu)
c.4920C>G (p.Phe1640Leu)
c.4911C>G (p.Phe1637Leu)
c.4902C>G (p.Phe1634Leu)
c.3240C>G (p.Phe1080Leu)
Xg.108695350C>TCA517926116COL4A5c.4905C>T (p.Phe1635=)
c.4887C>T (p.Phe1629=)
n.1399C>T
n.1736C>T
c.219+429C>T (n.219+429C>T)
c.325-947C>T
c.4896C>T (p.Phe1632=)
c.4581C>T (p.Phe1527=)
c.2478C>T (p.Phe826=)
c.4920C>T (p.Phe1640=)
c.4911C>T (p.Phe1637=)
c.4902C>T (p.Phe1634=)
c.3240C>T (p.Phe1080=)
Xg.108695352_108695413delCA2695235252COL4A5c.4907_4968del (p.Ile1636AsnfsTer10)
c.4889_4950del (p.Ile1630AsnfsTer10)
n.1401_1462del
n.1738_1799del
c.219+431_219+492del (n.219+431_219+492del)
c.325-945_325-884del
c.4898_4959del (p.Ile1633AsnfsTer10)
c.4583_4644del (p.Ile1528AsnfsTer10)
c.2480_2541del (p.Ile827AsnfsTer10)
c.4922_4983del (p.Ile1641AsnfsTer10)
c.4913_4974del (p.Ile1638AsnfsTer10)
c.4904_4965del (p.Ile1635AsnfsTer10)
c.3242_3303del (p.Ile1081AsnfsTer10)
Xg.108695351A>CCA414132814COL4A5c.4906A>C (p.Ile1636Leu)
c.4888A>C (p.Ile1630Leu)
n.1400A>C
n.1737A>C
c.219+430A>C (n.219+430A>C)
c.325-946A>C
c.4897A>C (p.Ile1633Leu)
c.4582A>C (p.Ile1528Leu)
c.2479A>C (p.Ile827Leu)
c.4921A>C (p.Ile1641Leu)
c.4912A>C (p.Ile1638Leu)
c.4903A>C (p.Ile1635Leu)
c.3241A>C (p.Ile1081Leu)
Xg.108695351A>GCA414132815COL4A5c.4906A>G (p.Ile1636Val)
c.4888A>G (p.Ile1630Val)
n.1400A>G
n.1737A>G
c.219+430A>G (n.219+430A>G)
c.325-946A>G
c.4897A>G (p.Ile1633Val)
c.4582A>G (p.Ile1528Val)
c.2479A>G (p.Ile827Val)
c.4921A>G (p.Ile1641Val)
c.4912A>G (p.Ile1638Val)
c.4903A>G (p.Ile1635Val)
c.3241A>G (p.Ile1081Val)
Xg.108695351A>TCA414132816COL4A5c.4906A>T (p.Ile1636Phe)
c.4888A>T (p.Ile1630Phe)
n.1400A>T
n.1737A>T
c.219+430A>T (n.219+430A>T)
c.325-946A>T
c.4897A>T (p.Ile1633Phe)
c.4582A>T (p.Ile1528Phe)
c.2479A>T (p.Ile827Phe)
c.4921A>T (p.Ile1641Phe)
c.4912A>T (p.Ile1638Phe)
c.4903A>T (p.Ile1635Phe)
c.3241A>T (p.Ile1081Phe)
Xg.108695351dupCA658799837COL4A5c.4906dup (p.Ile1636AsnfsTer10)
c.4888dup (p.Ile1630AsnfsTer10)
n.1400dup
n.1737dup
c.219+430dup (n.219+430dup)
c.325-946dup
c.4897dup (p.Ile1633AsnfsTer10)
c.4582dup (p.Ile1528AsnfsTer10)
c.2479dup (p.Ile827AsnfsTer10)
c.4921dup (p.Ile1641AsnfsTer10)
c.4912dup (p.Ile1638AsnfsTer10)
c.4903dup (p.Ile1635AsnfsTer10)
c.3241dup (p.Ile1081AsnfsTer10)
 ClinVar dbSNP
Xg.108695352T>ACA414132817COL4A5c.4907T>A (p.Ile1636Asn)
c.4889T>A (p.Ile1630Asn)
n.1401T>A
n.1738T>A
c.219+431T>A (n.219+431T>A)
c.325-945T>A
c.4898T>A (p.Ile1633Asn)
c.4583T>A (p.Ile1528Asn)
c.2480T>A (p.Ile827Asn)
c.4922T>A (p.Ile1641Asn)
c.4913T>A (p.Ile1638Asn)
c.4904T>A (p.Ile1635Asn)
c.3242T>A (p.Ile1081Asn)
Xg.108695352T>CCA414132818COL4A5c.4907T>C (p.Ile1636Thr)
c.4889T>C (p.Ile1630Thr)
n.1401T>C
n.1738T>C
c.219+431T>C (n.219+431T>C)
c.325-945T>C
c.4898T>C (p.Ile1633Thr)
c.4583T>C (p.Ile1528Thr)
c.2480T>C (p.Ile827Thr)
c.4922T>C (p.Ile1641Thr)
c.4913T>C (p.Ile1638Thr)
c.4904T>C (p.Ile1635Thr)
c.3242T>C (p.Ile1081Thr)
Xg.108695352T>GCA414132819COL4A5c.4907T>G (p.Ile1636Ser)
c.4889T>G (p.Ile1630Ser)
n.1401T>G
n.1738T>G
c.219+431T>G (n.219+431T>G)
c.325-945T>G
c.4898T>G (p.Ile1633Ser)
c.4583T>G (p.Ile1528Ser)
c.2480T>G (p.Ile827Ser)
c.4922T>G (p.Ile1641Ser)
c.4913T>G (p.Ile1638Ser)
c.4904T>G (p.Ile1635Ser)
c.3242T>G (p.Ile1081Ser)
Xg.108695353C>ACA517926117COL4A5c.4908C>A (p.Ile1636=)
c.4890C>A (p.Ile1630=)
n.1402C>A
n.1739C>A
c.219+432C>A (n.219+432C>A)
c.325-944C>A
c.4899C>A (p.Ile1633=)
c.4584C>A (p.Ile1528=)
c.2481C>A (p.Ile827=)
c.4923C>A (p.Ile1641=)
c.4914C>A (p.Ile1638=)
c.4905C>A (p.Ile1635=)
c.3243C>A (p.Ile1081=)
Xg.108695353C=CA2450721754COL4A5c.4908C= (p.Ile1636=)
c.4890C= (p.Ile1630=)
n.1402C=
n.1739C=
c.219+432C= (n.219+432C=)
c.325-944C=
c.4899C= (p.Ile1633=)
c.4584C= (p.Ile1528=)
c.2481C= (p.Ile827=)
c.4923C= (p.Ile1641=)
c.4914C= (p.Ile1638=)
c.4905C= (p.Ile1635=)
c.3243C= (p.Ile1081=)
Xg.108695353C>GCA414132820COL4A5c.4908C>G (p.Ile1636Met)
c.4890C>G (p.Ile1630Met)
n.1402C>G
n.1739C>G
c.219+432C>G (n.219+432C>G)
c.325-944C>G
c.4899C>G (p.Ile1633Met)
c.4584C>G (p.Ile1528Met)
c.2481C>G (p.Ile827Met)
c.4923C>G (p.Ile1641Met)
c.4914C>G (p.Ile1638Met)
c.4905C>G (p.Ile1635Met)
c.3243C>G (p.Ile1081Met)
Xg.108695353C>TCA10489444COL4A5c.4908C>T (p.Ile1636=)
c.4890C>T (p.Ile1630=)
n.1402C>T
n.1739C>T
c.219+432C>T (n.219+432C>T)
c.325-944C>T
c.4899C>T (p.Ile1633=)
c.4584C>T (p.Ile1528=)
c.2481C>T (p.Ile827=)
c.4923C>T (p.Ile1641=)
c.4914C>T (p.Ile1638=)
c.4905C>T (p.Ile1635=)
c.3243C>T (p.Ile1081=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695354G>ACA414132821COL4A5c.4909G>A (p.Glu1637Lys)
c.4891G>A (p.Glu1631Lys)
n.1403G>A
n.1740G>A
c.219+433G>A (n.219+433G>A)
c.325-943G>A
c.4900G>A (p.Glu1634Lys)
c.4585G>A (p.Glu1529Lys)
c.2482G>A (p.Glu828Lys)
c.4924G>A (p.Glu1642Lys)
c.4915G>A (p.Glu1639Lys)
c.4906G>A (p.Glu1636Lys)
c.3244G>A (p.Glu1082Lys)
 gnomAD v4 COSMIC
Xg.108695354G>CCA414132822COL4A5c.4909G>C (p.Glu1637Gln)
c.4891G>C (p.Glu1631Gln)
n.1403G>C
n.1740G>C
c.219+433G>C (n.219+433G>C)
c.325-943G>C
c.4900G>C (p.Glu1634Gln)
c.4585G>C (p.Glu1529Gln)
c.2482G>C (p.Glu828Gln)
c.4924G>C (p.Glu1642Gln)
c.4915G>C (p.Glu1639Gln)
c.4906G>C (p.Glu1636Gln)
c.3244G>C (p.Glu1082Gln)
Xg.108695354G>TCA414132823COL4A5c.4909G>T (p.Glu1637Ter)
c.4891G>T (p.Glu1631Ter)
n.1403G>T
n.1740G>T
c.219+433G>T (n.219+433G>T)
c.325-943G>T
c.4900G>T (p.Glu1634Ter)
c.4585G>T (p.Glu1529Ter)
c.2482G>T (p.Glu828Ter)
c.4924G>T (p.Glu1642Ter)
c.4915G>T (p.Glu1639Ter)
c.4906G>T (p.Glu1636Ter)
c.3244G>T (p.Glu1082Ter)
Xg.108695355A>CCA414132824COL4A5c.4910A>C (p.Glu1637Ala)
c.4892A>C (p.Glu1631Ala)
n.1404A>C
n.1741A>C
c.219+434A>C (n.219+434A>C)
c.325-942A>C
c.4901A>C (p.Glu1634Ala)
c.4586A>C (p.Glu1529Ala)
c.2483A>C (p.Glu828Ala)
c.4925A>C (p.Glu1642Ala)
c.4916A>C (p.Glu1639Ala)
c.4907A>C (p.Glu1636Ala)
c.3245A>C (p.Glu1082Ala)
Xg.108695355A>GCA414132825COL4A5c.4910A>G (p.Glu1637Gly)
c.4892A>G (p.Glu1631Gly)
n.1404A>G
n.1741A>G
c.219+434A>G (n.219+434A>G)
c.325-942A>G
c.4901A>G (p.Glu1634Gly)
c.4586A>G (p.Glu1529Gly)
c.2483A>G (p.Glu828Gly)
c.4925A>G (p.Glu1642Gly)
c.4916A>G (p.Glu1639Gly)
c.4907A>G (p.Glu1636Gly)
c.3245A>G (p.Glu1082Gly)
 gnomAD v4
Xg.108695355A>TCA414132826COL4A5c.4910A>T (p.Glu1637Val)
c.4892A>T (p.Glu1631Val)
n.1404A>T
n.1741A>T
c.219+434A>T (n.219+434A>T)
c.325-942A>T
c.4901A>T (p.Glu1634Val)
c.4586A>T (p.Glu1529Val)
c.2483A>T (p.Glu828Val)
c.4925A>T (p.Glu1642Val)
c.4916A>T (p.Glu1639Val)
c.4907A>T (p.Glu1636Val)
c.3245A>T (p.Glu1082Val)
Xg.108695356A>CCA414132828COL4A5c.4911A>C (p.Glu1637Asp)
c.4893A>C (p.Glu1631Asp)
n.1405A>C
n.1742A>C
c.219+435A>C (n.219+435A>C)
c.325-941A>C
c.4902A>C (p.Glu1634Asp)
c.4587A>C (p.Glu1529Asp)
c.2484A>C (p.Glu828Asp)
c.4926A>C (p.Glu1642Asp)
c.4917A>C (p.Glu1639Asp)
c.4908A>C (p.Glu1636Asp)
c.3246A>C (p.Glu1082Asp)
Xg.108695356A>GCA517926118COL4A5c.4911A>G (p.Glu1637=)
c.4893A>G (p.Glu1631=)
n.1405A>G
n.1742A>G
c.219+435A>G (n.219+435A>G)
c.325-941A>G
c.4902A>G (p.Glu1634=)
c.4587A>G (p.Glu1529=)
c.2484A>G (p.Glu828=)
c.4926A>G (p.Glu1642=)
c.4917A>G (p.Glu1639=)
c.4908A>G (p.Glu1636=)
c.3246A>G (p.Glu1082=)
 ClinVar
Xg.108695356A>TCA414132827COL4A5c.4911A>T (p.Glu1637Asp)
c.4893A>T (p.Glu1631Asp)
n.1405A>T
n.1742A>T
c.219+435A>T (n.219+435A>T)
c.325-941A>T
c.4902A>T (p.Glu1634Asp)
c.4587A>T (p.Glu1529Asp)
c.2484A>T (p.Glu828Asp)
c.4926A>T (p.Glu1642Asp)
c.4917A>T (p.Glu1639Asp)
c.4908A>T (p.Glu1636Asp)
c.3246A>T (p.Glu1082Asp)
Xg.108695357T>ACA414132829COL4A5c.4912T>A (p.Cys1638Ser)
c.4894T>A (p.Cys1632Ser)
n.1406T>A
n.1743T>A
c.219+436T>A (n.219+436T>A)
c.325-940T>A
c.4903T>A (p.Cys1635Ser)
c.4588T>A (p.Cys1530Ser)
c.2485T>A (p.Cys829Ser)
c.4927T>A (p.Cys1643Ser)
c.4918T>A (p.Cys1640Ser)
c.4909T>A (p.Cys1637Ser)
c.3247T>A (p.Cys1083Ser)
 gnomAD v4
Xg.108695357T>CCA414132830COL4A5c.4912T>C (p.Cys1638Arg)
c.4894T>C (p.Cys1632Arg)
n.1406T>C
n.1743T>C
c.219+436T>C (n.219+436T>C)
c.325-940T>C
c.4903T>C (p.Cys1635Arg)
c.4588T>C (p.Cys1530Arg)
c.2485T>C (p.Cys829Arg)
c.4927T>C (p.Cys1643Arg)
c.4918T>C (p.Cys1640Arg)
c.4909T>C (p.Cys1637Arg)
c.3247T>C (p.Cys1083Arg)
Xg.108695357T>GCA259130COL4A5c.4912T>G (p.Cys1638Gly)
c.4894T>G (p.Cys1632Gly)
n.1406T>G
n.1743T>G
c.219+436T>G (n.219+436T>G)
c.325-940T>G
c.4903T>G (p.Cys1635Gly)
c.4588T>G (p.Cys1530Gly)
c.2485T>G (p.Cys829Gly)
c.4927T>G (p.Cys1643Gly)
c.4918T>G (p.Cys1640Gly)
c.4909T>G (p.Cys1637Gly)
c.3247T>G (p.Cys1083Gly)
 dbSNP
Xg.108695357T=CA2450721755COL4A5c.4912T= (p.Cys1638=)
c.4894T= (p.Cys1632=)
n.1406T=
n.1743T=
c.219+436T= (n.219+436T=)
c.325-940T=
c.4903T= (p.Cys1635=)
c.4588T= (p.Cys1530=)
c.2485T= (p.Cys829=)
c.4927T= (p.Cys1643=)
c.4918T= (p.Cys1640=)
c.4909T= (p.Cys1637=)
c.3247T= (p.Cys1083=)
Xg.108695358G>ACA414132831COL4A5c.4913G>A (p.Cys1638Tyr)
c.4895G>A (p.Cys1632Tyr)
n.1407G>A
n.1744G>A
c.219+437G>A (n.219+437G>A)
c.325-939G>A
c.4904G>A (p.Cys1635Tyr)
c.4589G>A (p.Cys1530Tyr)
c.2486G>A (p.Cys829Tyr)
c.4928G>A (p.Cys1643Tyr)
c.4919G>A (p.Cys1640Tyr)
c.4910G>A (p.Cys1637Tyr)
c.3248G>A (p.Cys1083Tyr)
 ClinVar dbSNP
Xg.108695358G>CCA414132832COL4A5c.4913G>C (p.Cys1638Ser)
c.4895G>C (p.Cys1632Ser)
n.1407G>C
n.1744G>C
c.219+437G>C (n.219+437G>C)
c.325-939G>C
c.4904G>C (p.Cys1635Ser)
c.4589G>C (p.Cys1530Ser)
c.2486G>C (p.Cys829Ser)
c.4928G>C (p.Cys1643Ser)
c.4919G>C (p.Cys1640Ser)
c.4910G>C (p.Cys1637Ser)
c.3248G>C (p.Cys1083Ser)
Xg.108695358G=CA2450721756COL4A5c.4913G= (p.Cys1638=)
c.4895G= (p.Cys1632=)
n.1407G=
n.1744G=
c.219+437G= (n.219+437G=)
c.325-939G=
c.4904G= (p.Cys1635=)
c.4589G= (p.Cys1530=)
c.2486G= (p.Cys829=)
c.4928G= (p.Cys1643=)
c.4919G= (p.Cys1640=)
c.4910G= (p.Cys1637=)
c.3248G= (p.Cys1083=)
Xg.108695358G>TCA414132833COL4A5c.4913G>T (p.Cys1638Phe)
c.4895G>T (p.Cys1632Phe)
n.1407G>T
n.1744G>T
c.219+437G>T (n.219+437G>T)
c.325-939G>T
c.4904G>T (p.Cys1635Phe)
c.4589G>T (p.Cys1530Phe)
c.2486G>T (p.Cys829Phe)
c.4928G>T (p.Cys1643Phe)
c.4919G>T (p.Cys1640Phe)
c.4910G>T (p.Cys1637Phe)
c.3248G>T (p.Cys1083Phe)
Xg.108695359T>ACA414132834COL4A5c.4914T>A (p.Cys1638Ter)
c.4896T>A (p.Cys1632Ter)
n.1408T>A
n.1745T>A
c.219+438T>A (n.219+438T>A)
c.325-938T>A
c.4905T>A (p.Cys1635Ter)
c.4590T>A (p.Cys1530Ter)
c.2487T>A (p.Cys829Ter)
c.4929T>A (p.Cys1643Ter)
c.4920T>A (p.Cys1640Ter)
c.4911T>A (p.Cys1637Ter)
c.3249T>A (p.Cys1083Ter)
Xg.108695359T>CCA517926119COL4A5c.4914T>C (p.Cys1638=)
c.4896T>C (p.Cys1632=)
n.1408T>C
n.1745T>C
c.219+438T>C (n.219+438T>C)
c.325-938T>C
c.4905T>C (p.Cys1635=)
c.4590T>C (p.Cys1530=)
c.2487T>C (p.Cys829=)
c.4929T>C (p.Cys1643=)
c.4920T>C (p.Cys1640=)
c.4911T>C (p.Cys1637=)
c.3249T>C (p.Cys1083=)
Xg.108695359T>GCA414132835COL4A5c.4914T>G (p.Cys1638Trp)
c.4896T>G (p.Cys1632Trp)
n.1408T>G
n.1745T>G
c.219+438T>G (n.219+438T>G)
c.325-938T>G
c.4905T>G (p.Cys1635Trp)
c.4590T>G (p.Cys1530Trp)
c.2487T>G (p.Cys829Trp)
c.4929T>G (p.Cys1643Trp)
c.4920T>G (p.Cys1640Trp)
c.4911T>G (p.Cys1637Trp)
c.3249T>G (p.Cys1083Trp)
Xg.108695359T=CA2450721757COL4A5c.4914T= (p.Cys1638=)
c.4896T= (p.Cys1632=)
n.1408T=
n.1745T=
c.219+438T= (n.219+438T=)
c.325-938T=
c.4905T= (p.Cys1635=)
c.4590T= (p.Cys1530=)
c.2487T= (p.Cys829=)
c.4929T= (p.Cys1643=)
c.4920T= (p.Cys1640=)
c.4911T= (p.Cys1637=)
c.3249T= (p.Cys1083=)
Xg.108695360C>ACA414132836COL4A5c.4915C>A (p.His1639Asn)
c.4897C>A (p.His1633Asn)
n.1409C>A
n.1746C>A
c.219+439C>A (n.219+439C>A)
c.325-937C>A
c.4906C>A (p.His1636Asn)
c.4591C>A (p.His1531Asn)
c.2488C>A (p.His830Asn)
c.4930C>A (p.His1644Asn)
c.4921C>A (p.His1641Asn)
c.4912C>A (p.His1638Asn)
c.3250C>A (p.His1084Asn)
Xg.108695360C=CA2450721758COL4A5c.4915C= (p.His1639=)
c.4897C= (p.His1633=)
n.1409C=
n.1746C=
c.219+439C= (n.219+439C=)
c.325-937C=
c.4906C= (p.His1636=)
c.4591C= (p.His1531=)
c.2488C= (p.His830=)
c.4930C= (p.His1644=)
c.4921C= (p.His1641=)
c.4912C= (p.His1638=)
c.3250C= (p.His1084=)
Xg.108695360C>GCA414132837COL4A5c.4915C>G (p.His1639Asp)
c.4897C>G (p.His1633Asp)
n.1409C>G
n.1746C>G
c.219+439C>G (n.219+439C>G)
c.325-937C>G
c.4906C>G (p.His1636Asp)
c.4591C>G (p.His1531Asp)
c.2488C>G (p.His830Asp)
c.4930C>G (p.His1644Asp)
c.4921C>G (p.His1641Asp)
c.4912C>G (p.His1638Asp)
c.3250C>G (p.His1084Asp)
Xg.108695360C>TCA414132838COL4A5c.4915C>T (p.His1639Tyr)
c.4897C>T (p.His1633Tyr)
n.1409C>T
n.1746C>T
c.219+439C>T (n.219+439C>T)
c.325-937C>T
c.4906C>T (p.His1636Tyr)
c.4591C>T (p.His1531Tyr)
c.2488C>T (p.His830Tyr)
c.4930C>T (p.His1644Tyr)
c.4921C>T (p.His1641Tyr)
c.4912C>T (p.His1638Tyr)
c.3250C>T (p.His1084Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695361A=CA2450721759COL4A5c.4916A= (p.His1639=)
c.4898A= (p.His1633=)
n.1410A=
n.1747A=
c.219+440A= (n.219+440A=)
c.325-936A=
c.4907A= (p.His1636=)
c.4592A= (p.His1531=)
c.2489A= (p.His830=)
c.4931A= (p.His1644=)
c.4922A= (p.His1641=)
c.4913A= (p.His1638=)
c.3251A= (p.His1084=)
Xg.108695361A>CCA414132839COL4A5c.4916A>C (p.His1639Pro)
c.4898A>C (p.His1633Pro)
n.1410A>C
n.1747A>C
c.219+440A>C (n.219+440A>C)
c.325-936A>C
c.4907A>C (p.His1636Pro)
c.4592A>C (p.His1531Pro)
c.2489A>C (p.His830Pro)
c.4931A>C (p.His1644Pro)
c.4922A>C (p.His1641Pro)
c.4913A>C (p.His1638Pro)
c.3251A>C (p.His1084Pro)
 gnomAD v4
Xg.108695361A>GCA334063385COL4A5c.4916A>G (p.His1639Arg)
c.4898A>G (p.His1633Arg)
n.1410A>G
n.1747A>G
c.219+440A>G (n.219+440A>G)
c.325-936A>G
c.4907A>G (p.His1636Arg)
c.4592A>G (p.His1531Arg)
c.2489A>G (p.His830Arg)
c.4931A>G (p.His1644Arg)
c.4922A>G (p.His1641Arg)
c.4913A>G (p.His1638Arg)
c.3251A>G (p.His1084Arg)
 dbSNP gnomAD v4
Xg.108695361A>TCA414132840COL4A5c.4916A>T (p.His1639Leu)
c.4898A>T (p.His1633Leu)
n.1410A>T
n.1747A>T
c.219+440A>T (n.219+440A>T)
c.325-936A>T
c.4907A>T (p.His1636Leu)
c.4592A>T (p.His1531Leu)
c.2489A>T (p.His830Leu)
c.4931A>T (p.His1644Leu)
c.4922A>T (p.His1641Leu)
c.4913A>T (p.His1638Leu)
c.3251A>T (p.His1084Leu)
Xg.108695362T>ACA414132842COL4A5c.4917T>A (p.His1639Gln)
c.4899T>A (p.His1633Gln)
n.1411T>A
n.1748T>A
c.219+441T>A (n.219+441T>A)
c.325-935T>A
c.4908T>A (p.His1636Gln)
c.4593T>A (p.His1531Gln)
c.2490T>A (p.His830Gln)
c.4932T>A (p.His1644Gln)
c.4923T>A (p.His1641Gln)
c.4914T>A (p.His1638Gln)
c.3252T>A (p.His1084Gln)
Xg.108695362T>CCA517926120COL4A5c.4917T>C (p.His1639=)
c.4899T>C (p.His1633=)
n.1411T>C
n.1748T>C
c.219+441T>C (n.219+441T>C)
c.325-935T>C
c.4908T>C (p.His1636=)
c.4593T>C (p.His1531=)
c.2490T>C (p.His830=)
c.4932T>C (p.His1644=)
c.4923T>C (p.His1641=)
c.4914T>C (p.His1638=)
c.3252T>C (p.His1084=)
Xg.108695362T>GCA414132841COL4A5c.4917T>G (p.His1639Gln)
c.4899T>G (p.His1633Gln)
n.1411T>G
n.1748T>G
c.219+441T>G (n.219+441T>G)
c.325-935T>G
c.4908T>G (p.His1636Gln)
c.4593T>G (p.His1531Gln)
c.2490T>G (p.His830Gln)
c.4932T>G (p.His1644Gln)
c.4923T>G (p.His1641Gln)
c.4914T>G (p.His1638Gln)
c.3252T>G (p.His1084Gln)
Xg.108695362dupCA2695235253COL4A5c.4917dup (p.Gly1640TrpfsTer6)
c.4899dup (p.Gly1634TrpfsTer6)
n.1411dup
n.1748dup
c.219+441dup (n.219+441dup)
c.325-935dup
c.4908dup (p.Gly1637TrpfsTer6)
c.4593dup (p.Gly1532TrpfsTer6)
c.2490dup (p.Gly831TrpfsTer6)
c.4932dup (p.Gly1645TrpfsTer6)
c.4923dup (p.Gly1642TrpfsTer6)
c.4914dup (p.Gly1639TrpfsTer6)
c.3252dup (p.Gly1085TrpfsTer6)
Xg.108695363G>ACA414132843COL4A5c.4918G>A (p.Gly1640Arg)
c.4900G>A (p.Gly1634Arg)
n.1412G>A
n.1749G>A
c.219+442G>A (n.219+442G>A)
c.325-934G>A
c.4909G>A (p.Gly1637Arg)
c.4594G>A (p.Gly1532Arg)
c.2491G>A (p.Gly831Arg)
c.4933G>A (p.Gly1645Arg)
c.4924G>A (p.Gly1642Arg)
c.4915G>A (p.Gly1639Arg)
c.3253G>A (p.Gly1085Arg)
 ClinVar
Xg.108695363G>CCA414132845COL4A5c.4918G>C (p.Gly1640Arg)
c.4900G>C (p.Gly1634Arg)
n.1412G>C
n.1749G>C
c.219+442G>C (n.219+442G>C)
c.325-934G>C
c.4909G>C (p.Gly1637Arg)
c.4594G>C (p.Gly1532Arg)
c.2491G>C (p.Gly831Arg)
c.4933G>C (p.Gly1645Arg)
c.4924G>C (p.Gly1642Arg)
c.4915G>C (p.Gly1639Arg)
c.3253G>C (p.Gly1085Arg)
Xg.108695363G>TCA414132844COL4A5c.4918G>T (p.Gly1640Trp)
c.4900G>T (p.Gly1634Trp)
n.1412G>T
n.1749G>T
c.219+442G>T (n.219+442G>T)
c.325-934G>T
c.4909G>T (p.Gly1637Trp)
c.4594G>T (p.Gly1532Trp)
c.2491G>T (p.Gly831Trp)
c.4933G>T (p.Gly1645Trp)
c.4924G>T (p.Gly1642Trp)
c.4915G>T (p.Gly1639Trp)
c.3253G>T (p.Gly1085Trp)
 gnomAD v4
Xg.108695364G>ACA414132846COL4A5c.4919G>A (p.Gly1640Glu)
c.4901G>A (p.Gly1634Glu)
n.1413G>A
n.1750G>A
c.219+443G>A (n.219+443G>A)
c.325-933G>A
c.4910G>A (p.Gly1637Glu)
c.4595G>A (p.Gly1532Glu)
c.2492G>A (p.Gly831Glu)
c.4934G>A (p.Gly1645Glu)
c.4925G>A (p.Gly1642Glu)
c.4916G>A (p.Gly1639Glu)
c.3254G>A (p.Gly1085Glu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695364G>CCA414132848COL4A5c.4919G>C (p.Gly1640Ala)
c.4901G>C (p.Gly1634Ala)
n.1413G>C
n.1750G>C
c.219+443G>C (n.219+443G>C)
c.325-933G>C
c.4910G>C (p.Gly1637Ala)
c.4595G>C (p.Gly1532Ala)
c.2492G>C (p.Gly831Ala)
c.4934G>C (p.Gly1645Ala)
c.4925G>C (p.Gly1642Ala)
c.4916G>C (p.Gly1639Ala)
c.3254G>C (p.Gly1085Ala)
Xg.108695364G=CA2450721760COL4A5c.4919G= (p.Gly1640=)
c.4901G= (p.Gly1634=)
n.1413G=
n.1750G=
c.219+443G= (n.219+443G=)
c.325-933G=
c.4910G= (p.Gly1637=)
c.4595G= (p.Gly1532=)
c.2492G= (p.Gly831=)
c.4934G= (p.Gly1645=)
c.4925G= (p.Gly1642=)
c.4916G= (p.Gly1639=)
c.3254G= (p.Gly1085=)
Xg.108695364G>TCA414132847COL4A5c.4919G>T (p.Gly1640Val)
c.4901G>T (p.Gly1634Val)
n.1413G>T
n.1750G>T
c.219+443G>T (n.219+443G>T)
c.325-933G>T
c.4910G>T (p.Gly1637Val)
c.4595G>T (p.Gly1532Val)
c.2492G>T (p.Gly831Val)
c.4934G>T (p.Gly1645Val)
c.4925G>T (p.Gly1642Val)
c.4916G>T (p.Gly1639Val)
c.3254G>T (p.Gly1085Val)
Xg.108695365G>ACA517926121COL4A5c.4920G>A (p.Gly1640=)
c.4902G>A (p.Gly1634=)
n.1414G>A
n.1751G>A
c.219+444G>A (n.219+444G>A)
c.325-932G>A
c.4911G>A (p.Gly1637=)
c.4596G>A (p.Gly1532=)
c.2493G>A (p.Gly831=)
c.4935G>A (p.Gly1645=)
c.4926G>A (p.Gly1642=)
c.4917G>A (p.Gly1639=)
c.3255G>A (p.Gly1085=)
Xg.108695365G>CCA517926122COL4A5c.4920G>C (p.Gly1640=)
c.4902G>C (p.Gly1634=)
n.1414G>C
n.1751G>C
c.219+444G>C (n.219+444G>C)
c.325-932G>C
c.4911G>C (p.Gly1637=)
c.4596G>C (p.Gly1532=)
c.2493G>C (p.Gly831=)
c.4935G>C (p.Gly1645=)
c.4926G>C (p.Gly1642=)
c.4917G>C (p.Gly1639=)
c.3255G>C (p.Gly1085=)
Xg.108695365G>TCA517926123COL4A5c.4920G>T (p.Gly1640=)
c.4902G>T (p.Gly1634=)
n.1414G>T
n.1751G>T
c.219+444G>T (n.219+444G>T)
c.325-932G>T
c.4911G>T (p.Gly1637=)
c.4596G>T (p.Gly1532=)
c.2493G>T (p.Gly831=)
c.4935G>T (p.Gly1645=)
c.4926G>T (p.Gly1642=)
c.4917G>T (p.Gly1639=)
c.3255G>T (p.Gly1085=)
Xg.108695366A>CCA517926124COL4A5c.4921A>C (p.Arg1641=)
c.4903A>C (p.Arg1635=)
n.1415A>C
n.1752A>C
c.219+445A>C (n.219+445A>C)
c.325-931A>C
c.4912A>C (p.Arg1638=)
c.4597A>C (p.Arg1533=)
c.2494A>C (p.Arg832=)
c.4936A>C (p.Arg1646=)
c.4927A>C (p.Arg1643=)
c.4918A>C (p.Arg1640=)
c.3256A>C (p.Arg1086=)
Xg.108695366A>GCA414132849COL4A5c.4921A>G (p.Arg1641Gly)
c.4903A>G (p.Arg1635Gly)
n.1415A>G
n.1752A>G
c.219+445A>G (n.219+445A>G)
c.325-931A>G
c.4912A>G (p.Arg1638Gly)
c.4597A>G (p.Arg1533Gly)
c.2494A>G (p.Arg832Gly)
c.4936A>G (p.Arg1646Gly)
c.4927A>G (p.Arg1643Gly)
c.4918A>G (p.Arg1640Gly)
c.3256A>G (p.Arg1086Gly)
Xg.108695366A>TCA414132850COL4A5c.4921A>T (p.Arg1641Trp)
c.4903A>T (p.Arg1635Trp)
n.1415A>T
n.1752A>T
c.219+445A>T (n.219+445A>T)
c.325-931A>T
c.4912A>T (p.Arg1638Trp)
c.4597A>T (p.Arg1533Trp)
c.2494A>T (p.Arg832Trp)
c.4936A>T (p.Arg1646Trp)
c.4927A>T (p.Arg1643Trp)
c.4918A>T (p.Arg1640Trp)
c.3256A>T (p.Arg1086Trp)
Xg.108695367G>ACA414132851COL4A5c.4922G>A (p.Arg1641Lys)
c.4904G>A (p.Arg1635Lys)
n.1416G>A
n.1753G>A
c.219+446G>A (n.219+446G>A)
c.325-930G>A
c.4913G>A (p.Arg1638Lys)
c.4598G>A (p.Arg1533Lys)
c.2495G>A (p.Arg832Lys)
c.4937G>A (p.Arg1646Lys)
c.4928G>A (p.Arg1643Lys)
c.4919G>A (p.Arg1640Lys)
c.3257G>A (p.Arg1086Lys)
 ClinVar gnomAD v4
Xg.108695367G>CCA414132852COL4A5c.4922G>C (p.Arg1641Thr)
c.4904G>C (p.Arg1635Thr)
n.1416G>C
n.1753G>C
c.219+446G>C (n.219+446G>C)
c.325-930G>C
c.4913G>C (p.Arg1638Thr)
c.4598G>C (p.Arg1533Thr)
c.2495G>C (p.Arg832Thr)
c.4937G>C (p.Arg1646Thr)
c.4928G>C (p.Arg1643Thr)
c.4919G>C (p.Arg1640Thr)
c.3257G>C (p.Arg1086Thr)
Xg.108695367G>TCA414132853COL4A5c.4922G>T (p.Arg1641Met)
c.4904G>T (p.Arg1635Met)
n.1416G>T
n.1753G>T
c.219+446G>T (n.219+446G>T)
c.325-930G>T
c.4913G>T (p.Arg1638Met)
c.4598G>T (p.Arg1533Met)
c.2495G>T (p.Arg832Met)
c.4937G>T (p.Arg1646Met)
c.4928G>T (p.Arg1643Met)
c.4919G>T (p.Arg1640Met)
c.3257G>T (p.Arg1086Met)
Xg.108695368G>ACA517926125COL4A5c.4923G>A (p.Arg1641=)
c.4905G>A (p.Arg1635=)
n.1417G>A
n.1754G>A
c.219+447G>A (n.219+447G>A)
c.325-929G>A
c.4914G>A (p.Arg1638=)
c.4599G>A (p.Arg1533=)
c.2496G>A (p.Arg832=)
c.4938G>A (p.Arg1646=)
c.4929G>A (p.Arg1643=)
c.4920G>A (p.Arg1640=)
c.3258G>A (p.Arg1086=)
 gnomAD v4
Xg.108695368G>CCA414132854COL4A5c.4923G>C (p.Arg1641Ser)
c.4905G>C (p.Arg1635Ser)
n.1417G>C
n.1754G>C
c.219+447G>C (n.219+447G>C)
c.325-929G>C
c.4914G>C (p.Arg1638Ser)
c.4599G>C (p.Arg1533Ser)
c.2496G>C (p.Arg832Ser)
c.4938G>C (p.Arg1646Ser)
c.4929G>C (p.Arg1643Ser)
c.4920G>C (p.Arg1640Ser)
c.3258G>C (p.Arg1086Ser)
Xg.108695368G>TCA414132855COL4A5c.4923G>T (p.Arg1641Ser)
c.4905G>T (p.Arg1635Ser)
n.1417G>T
n.1754G>T
c.219+447G>T (n.219+447G>T)
c.325-929G>T
c.4914G>T (p.Arg1638Ser)
c.4599G>T (p.Arg1533Ser)
c.2496G>T (p.Arg832Ser)
c.4938G>T (p.Arg1646Ser)
c.4929G>T (p.Arg1643Ser)
c.4920G>T (p.Arg1640Ser)
c.3258G>T (p.Arg1086Ser)
Xg.108695369G>ACA414132856COL4A5c.4924G>A (p.Gly1642Ser)
c.4906G>A (p.Gly1636Ser)
n.1418G>A
n.1755G>A
c.219+448G>A (n.219+448G>A)
c.325-928G>A
c.4915G>A (p.Gly1639Ser)
c.4600G>A (p.Gly1534Ser)
c.2497G>A (p.Gly833Ser)
c.4939G>A (p.Gly1647Ser)
c.4930G>A (p.Gly1644Ser)
c.4921G>A (p.Gly1641Ser)
c.3259G>A (p.Gly1087Ser)
Xg.108695369G>CCA414132857COL4A5c.4924G>C (p.Gly1642Arg)
c.4906G>C (p.Gly1636Arg)
n.1418G>C
n.1755G>C
c.219+448G>C (n.219+448G>C)
c.325-928G>C
c.4915G>C (p.Gly1639Arg)
c.4600G>C (p.Gly1534Arg)
c.2497G>C (p.Gly833Arg)
c.4939G>C (p.Gly1647Arg)
c.4930G>C (p.Gly1644Arg)
c.4921G>C (p.Gly1641Arg)
c.3259G>C (p.Gly1087Arg)
Xg.108695369G>TCA414132858COL4A5c.4924G>T (p.Gly1642Cys)
c.4906G>T (p.Gly1636Cys)
n.1418G>T
n.1755G>T
c.219+448G>T (n.219+448G>T)
c.325-928G>T
c.4915G>T (p.Gly1639Cys)
c.4600G>T (p.Gly1534Cys)
c.2497G>T (p.Gly833Cys)
c.4939G>T (p.Gly1647Cys)
c.4930G>T (p.Gly1644Cys)
c.4921G>T (p.Gly1641Cys)
c.3259G>T (p.Gly1087Cys)
 gnomAD v4
Xg.108695369_108695431delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGACCA2450721761COL4A5c.4924_4986delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1642=)
c.4906_4968delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1636=)
n.1418_1480delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC
n.1755_1817delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC
c.219+448_219+510delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (n.219+448_219+510delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC)
c.325-928_325-866delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC
c.4915_4977delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1639=)
c.4600_4662delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1534=)
c.2497_2559delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly833=)
c.4939_5001delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1647=)
c.4930_4992delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1644=)
c.4921_4983delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1641=)
c.3259_3321delinsGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTGGCTGGCAACTGTAGATGTGTCAGAC (p.Gly1087=)
Xg.108695370G>ACA414132861COL4A5c.4925G>A (p.Gly1642Asp)
c.4907G>A (p.Gly1636Asp)
n.1419G>A
n.1756G>A
c.219+449G>A (n.219+449G>A)
c.325-927G>A
c.4916G>A (p.Gly1639Asp)
c.4601G>A (p.Gly1534Asp)
c.2498G>A (p.Gly833Asp)
c.4940G>A (p.Gly1647Asp)
c.4931G>A (p.Gly1644Asp)
c.4922G>A (p.Gly1641Asp)
c.3260G>A (p.Gly1087Asp)
 dbSNP
Xg.108695370G>CCA414132860COL4A5c.4925G>C (p.Gly1642Ala)
c.4907G>C (p.Gly1636Ala)
n.1419G>C
n.1756G>C
c.219+449G>C (n.219+449G>C)
c.325-927G>C
c.4916G>C (p.Gly1639Ala)
c.4601G>C (p.Gly1534Ala)
c.2498G>C (p.Gly833Ala)
c.4940G>C (p.Gly1647Ala)
c.4931G>C (p.Gly1644Ala)
c.4922G>C (p.Gly1641Ala)
c.3260G>C (p.Gly1087Ala)
Xg.108695370G>TCA414132859COL4A5c.4925G>T (p.Gly1642Val)
c.4907G>T (p.Gly1636Val)
n.1419G>T
n.1756G>T
c.219+449G>T (n.219+449G>T)
c.325-927G>T
c.4916G>T (p.Gly1639Val)
c.4601G>T (p.Gly1534Val)
c.2498G>T (p.Gly833Val)
c.4940G>T (p.Gly1647Val)
c.4931G>T (p.Gly1644Val)
c.4922G>T (p.Gly1641Val)
c.3260G>T (p.Gly1087Val)
Xg.108695370_108695431delCA1139667751COL4A5c.4925_4986del (p.Gly1642AspfsTer4)
c.4907_4968del (p.Gly1636AspfsTer4)
n.1419_1480del
n.1756_1817del
c.219+449_219+510del (n.219+449_219+510del)
c.325-927_325-866del
c.4916_4977del (p.Gly1639AspfsTer4)
c.4601_4662del (p.Gly1534AspfsTer4)
c.2498_2559del (p.Gly833AspfsTer4)
c.4940_5001del (p.Gly1647AspfsTer4)
c.4931_4992del (p.Gly1644AspfsTer4)
c.4922_4983del (p.Gly1641AspfsTer4)
c.3260_3321del (p.Gly1087AspfsTer4)
 ClinVar dbSNP
Xg.108695371T>ACA517926126COL4A5c.4926T>A (p.Gly1642=)
c.4908T>A (p.Gly1636=)
n.1420T>A
n.1757T>A
c.219+450T>A (n.219+450T>A)
c.325-926T>A
c.4917T>A (p.Gly1639=)
c.4602T>A (p.Gly1534=)
c.2499T>A (p.Gly833=)
c.4941T>A (p.Gly1647=)
c.4932T>A (p.Gly1644=)
c.4923T>A (p.Gly1641=)
c.3261T>A (p.Gly1087=)
Xg.108695371T>CCA517926127COL4A5c.4926T>C (p.Gly1642=)
c.4908T>C (p.Gly1636=)
n.1420T>C
n.1757T>C
c.219+450T>C (n.219+450T>C)
c.325-926T>C
c.4917T>C (p.Gly1639=)
c.4602T>C (p.Gly1534=)
c.2499T>C (p.Gly833=)
c.4941T>C (p.Gly1647=)
c.4932T>C (p.Gly1644=)
c.4923T>C (p.Gly1641=)
c.3261T>C (p.Gly1087=)
Xg.108695371T>GCA517926128COL4A5c.4926T>G (p.Gly1642=)
c.4908T>G (p.Gly1636=)
n.1420T>G
n.1757T>G
c.219+450T>G (n.219+450T>G)
c.325-926T>G
c.4917T>G (p.Gly1639=)
c.4602T>G (p.Gly1534=)
c.2499T>G (p.Gly833=)
c.4941T>G (p.Gly1647=)
c.4932T>G (p.Gly1644=)
c.4923T>G (p.Gly1641=)
c.3261T>G (p.Gly1087=)
Xg.108695372A>CCA414132862COL4A5c.4927A>C (p.Thr1643Pro)
c.4909A>C (p.Thr1637Pro)
n.1421A>C
n.1758A>C
c.219+451A>C (n.219+451A>C)
c.325-925A>C
c.4918A>C (p.Thr1640Pro)
c.4603A>C (p.Thr1535Pro)
c.2500A>C (p.Thr834Pro)
c.4942A>C (p.Thr1648Pro)
c.4933A>C (p.Thr1645Pro)
c.4924A>C (p.Thr1642Pro)
c.3262A>C (p.Thr1088Pro)
Xg.108695372A>GCA414132863COL4A5c.4927A>G (p.Thr1643Ala)
c.4909A>G (p.Thr1637Ala)
n.1421A>G
n.1758A>G
c.219+451A>G (n.219+451A>G)
c.325-925A>G
c.4918A>G (p.Thr1640Ala)
c.4603A>G (p.Thr1535Ala)
c.2500A>G (p.Thr834Ala)
c.4942A>G (p.Thr1648Ala)
c.4933A>G (p.Thr1645Ala)
c.4924A>G (p.Thr1642Ala)
c.3262A>G (p.Thr1088Ala)
Xg.108695372A>TCA414132864COL4A5c.4927A>T (p.Thr1643Ser)
c.4909A>T (p.Thr1637Ser)
n.1421A>T
n.1758A>T
c.219+451A>T (n.219+451A>T)
c.325-925A>T
c.4918A>T (p.Thr1640Ser)
c.4603A>T (p.Thr1535Ser)
c.2500A>T (p.Thr834Ser)
c.4942A>T (p.Thr1648Ser)
c.4933A>T (p.Thr1645Ser)
c.4924A>T (p.Thr1642Ser)
c.3262A>T (p.Thr1088Ser)
Xg.108695373C>ACA414132865COL4A5c.4928C>A (p.Thr1643Asn)
c.4910C>A (p.Thr1637Asn)
n.1422C>A
n.1759C>A
c.219+452C>A (n.219+452C>A)
c.325-924C>A
c.4919C>A (p.Thr1640Asn)
c.4604C>A (p.Thr1535Asn)
c.2501C>A (p.Thr834Asn)
c.4943C>A (p.Thr1648Asn)
c.4934C>A (p.Thr1645Asn)
c.4925C>A (p.Thr1642Asn)
c.3263C>A (p.Thr1088Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695373C=CA2450721762COL4A5c.4928C= (p.Thr1643=)
c.4910C= (p.Thr1637=)
n.1422C=
n.1759C=
c.219+452C= (n.219+452C=)
c.325-924C=
c.4919C= (p.Thr1640=)
c.4604C= (p.Thr1535=)
c.2501C= (p.Thr834=)
c.4943C= (p.Thr1648=)
c.4934C= (p.Thr1645=)
c.4925C= (p.Thr1642=)
c.3263C= (p.Thr1088=)
Xg.108695373C>GCA414132866COL4A5c.4928C>G (p.Thr1643Ser)
c.4910C>G (p.Thr1637Ser)
n.1422C>G
n.1759C>G
c.219+452C>G (n.219+452C>G)
c.325-924C>G
c.4919C>G (p.Thr1640Ser)
c.4604C>G (p.Thr1535Ser)
c.2501C>G (p.Thr834Ser)
c.4943C>G (p.Thr1648Ser)
c.4934C>G (p.Thr1645Ser)
c.4925C>G (p.Thr1642Ser)
c.3263C>G (p.Thr1088Ser)
Xg.108695373C>TCA414132867COL4A5c.4928C>T (p.Thr1643Ile)
c.4910C>T (p.Thr1637Ile)
n.1422C>T
n.1759C>T
c.219+452C>T (n.219+452C>T)
c.325-924C>T
c.4919C>T (p.Thr1640Ile)
c.4604C>T (p.Thr1535Ile)
c.2501C>T (p.Thr834Ile)
c.4943C>T (p.Thr1648Ile)
c.4934C>T (p.Thr1645Ile)
c.4925C>T (p.Thr1642Ile)
c.3263C>T (p.Thr1088Ile)
 dbSNP
Xg.108695374C>ACA517926129COL4A5c.4929C>A (p.Thr1643=)
c.4911C>A (p.Thr1637=)
n.1423C>A
n.1760C>A
c.219+453C>A (n.219+453C>A)
c.325-923C>A
c.4920C>A (p.Thr1640=)
c.4605C>A (p.Thr1535=)
c.2502C>A (p.Thr834=)
c.4944C>A (p.Thr1648=)
c.4935C>A (p.Thr1645=)
c.4926C>A (p.Thr1642=)
c.3264C>A (p.Thr1088=)
Xg.108695374C>GCA517926130COL4A5c.4929C>G (p.Thr1643=)
c.4911C>G (p.Thr1637=)
n.1423C>G
n.1760C>G
c.219+453C>G (n.219+453C>G)
c.325-923C>G
c.4920C>G (p.Thr1640=)
c.4605C>G (p.Thr1535=)
c.2502C>G (p.Thr834=)
c.4944C>G (p.Thr1648=)
c.4935C>G (p.Thr1645=)
c.4926C>G (p.Thr1642=)
c.3264C>G (p.Thr1088=)
Xg.108695374C>TCA517926131COL4A5c.4929C>T (p.Thr1643=)
c.4911C>T (p.Thr1637=)
n.1423C>T
n.1760C>T
c.219+453C>T (n.219+453C>T)
c.325-923C>T
c.4920C>T (p.Thr1640=)
c.4605C>T (p.Thr1535=)
c.2502C>T (p.Thr834=)
c.4944C>T (p.Thr1648=)
c.4935C>T (p.Thr1645=)
c.4926C>T (p.Thr1642=)
c.3264C>T (p.Thr1088=)
Xg.108695375T>ACA414132868COL4A5c.4930T>A (p.Cys1644Ser)
c.4912T>A (p.Cys1638Ser)
n.1424T>A
n.1761T>A
c.219+454T>A (n.219+454T>A)
c.325-922T>A
c.4921T>A (p.Cys1641Ser)
c.4606T>A (p.Cys1536Ser)
c.2503T>A (p.Cys835Ser)
c.4945T>A (p.Cys1649Ser)
c.4936T>A (p.Cys1646Ser)
c.4927T>A (p.Cys1643Ser)
c.3265T>A (p.Cys1089Ser)
Xg.108695375T>CCA334063387COL4A5c.4930T>C (p.Cys1644Arg)
c.4912T>C (p.Cys1638Arg)
n.1424T>C
n.1761T>C
c.219+454T>C (n.219+454T>C)
c.325-922T>C
c.4921T>C (p.Cys1641Arg)
c.4606T>C (p.Cys1536Arg)
c.2503T>C (p.Cys835Arg)
c.4945T>C (p.Cys1649Arg)
c.4936T>C (p.Cys1646Arg)
c.4927T>C (p.Cys1643Arg)
c.3265T>C (p.Cys1089Arg)
 ClinVar dbSNP
Xg.108695375T>GCA414132869COL4A5c.4930T>G (p.Cys1644Gly)
c.4912T>G (p.Cys1638Gly)
n.1424T>G
n.1761T>G
c.219+454T>G (n.219+454T>G)
c.325-922T>G
c.4921T>G (p.Cys1641Gly)
c.4606T>G (p.Cys1536Gly)
c.2503T>G (p.Cys835Gly)
c.4945T>G (p.Cys1649Gly)
c.4936T>G (p.Cys1646Gly)
c.4927T>G (p.Cys1643Gly)
c.3265T>G (p.Cys1089Gly)
Xg.108695375T=CA2450721763COL4A5c.4930T= (p.Cys1644=)
c.4912T= (p.Cys1638=)
n.1424T=
n.1761T=
c.219+454T= (n.219+454T=)
c.325-922T=
c.4921T= (p.Cys1641=)
c.4606T= (p.Cys1536=)
c.2503T= (p.Cys835=)
c.4945T= (p.Cys1649=)
c.4936T= (p.Cys1646=)
c.4927T= (p.Cys1643=)
c.3265T= (p.Cys1089=)
Xg.108695376G>ACA259134COL4A5c.4931G>A (p.Cys1644Tyr)
c.4913G>A (p.Cys1638Tyr)
n.1425G>A
n.1762G>A
c.219+455G>A (n.219+455G>A)
c.325-921G>A
c.4922G>A (p.Cys1641Tyr)
c.4607G>A (p.Cys1536Tyr)
c.2504G>A (p.Cys835Tyr)
c.4946G>A (p.Cys1649Tyr)
c.4937G>A (p.Cys1646Tyr)
c.4928G>A (p.Cys1643Tyr)
c.3266G>A (p.Cys1089Tyr)
 ClinVar dbSNP
Xg.108695376G>CCA414132870COL4A5c.4931G>C (p.Cys1644Ser)
c.4913G>C (p.Cys1638Ser)
n.1425G>C
n.1762G>C
c.219+455G>C (n.219+455G>C)
c.325-921G>C
c.4922G>C (p.Cys1641Ser)
c.4607G>C (p.Cys1536Ser)
c.2504G>C (p.Cys835Ser)
c.4946G>C (p.Cys1649Ser)
c.4937G>C (p.Cys1646Ser)
c.4928G>C (p.Cys1643Ser)
c.3266G>C (p.Cys1089Ser)
Xg.108695376G=CA2450721764COL4A5c.4931G= (p.Cys1644=)
c.4913G= (p.Cys1638=)
n.1425G=
n.1762G=
c.219+455G= (n.219+455G=)
c.325-921G=
c.4922G= (p.Cys1641=)
c.4607G= (p.Cys1536=)
c.2504G= (p.Cys835=)
c.4946G= (p.Cys1649=)
c.4937G= (p.Cys1646=)
c.4928G= (p.Cys1643=)
c.3266G= (p.Cys1089=)
Xg.108695376G>TCA414132871COL4A5c.4931G>T (p.Cys1644Phe)
c.4913G>T (p.Cys1638Phe)
n.1425G>T
n.1762G>T
c.219+455G>T (n.219+455G>T)
c.325-921G>T
c.4922G>T (p.Cys1641Phe)
c.4607G>T (p.Cys1536Phe)
c.2504G>T (p.Cys835Phe)
c.4946G>T (p.Cys1649Phe)
c.4937G>T (p.Cys1646Phe)
c.4928G>T (p.Cys1643Phe)
c.3266G>T (p.Cys1089Phe)
Xg.108695377T>ACA414132872COL4A5c.4932T>A (p.Cys1644Ter)
c.4914T>A (p.Cys1638Ter)
n.1426T>A
n.1763T>A
c.219+456T>A (n.219+456T>A)
c.325-920T>A
c.4923T>A (p.Cys1641Ter)
c.4608T>A (p.Cys1536Ter)
c.2505T>A (p.Cys835Ter)
c.4947T>A (p.Cys1649Ter)
c.4938T>A (p.Cys1646Ter)
c.4929T>A (p.Cys1643Ter)
c.3267T>A (p.Cys1089Ter)
Xg.108695377T>CCA517926132COL4A5c.4932T>C (p.Cys1644=)
c.4914T>C (p.Cys1638=)
n.1426T>C
n.1763T>C
c.219+456T>C (n.219+456T>C)
c.325-920T>C
c.4923T>C (p.Cys1641=)
c.4608T>C (p.Cys1536=)
c.2505T>C (p.Cys835=)
c.4947T>C (p.Cys1649=)
c.4938T>C (p.Cys1646=)
c.4929T>C (p.Cys1643=)
c.3267T>C (p.Cys1089=)
Xg.108695377T>GCA414132873COL4A5c.4932T>G (p.Cys1644Trp)
c.4914T>G (p.Cys1638Trp)
n.1426T>G
n.1763T>G
c.219+456T>G (n.219+456T>G)
c.325-920T>G
c.4923T>G (p.Cys1641Trp)
c.4608T>G (p.Cys1536Trp)
c.2505T>G (p.Cys835Trp)
c.4947T>G (p.Cys1649Trp)
c.4938T>G (p.Cys1646Trp)
c.4929T>G (p.Cys1643Trp)
c.3267T>G (p.Cys1089Trp)
Xg.108695378A=CA2450721765COL4A5c.4933A= (p.Asn1645=)
c.4915A= (p.Asn1639=)
n.1427A=
n.1764A=
c.219+457A= (n.219+457A=)
c.325-919A=
c.4924A= (p.Asn1642=)
c.4609A= (p.Asn1537=)
c.2506A= (p.Asn836=)
c.4948A= (p.Asn1650=)
c.4939A= (p.Asn1647=)
c.4930A= (p.Asn1644=)
c.3268A= (p.Asn1090=)
Xg.108695378A>CCA414132874COL4A5c.4933A>C (p.Asn1645His)
c.4915A>C (p.Asn1639His)
n.1427A>C
n.1764A>C
c.219+457A>C (n.219+457A>C)
c.325-919A>C
c.4924A>C (p.Asn1642His)
c.4609A>C (p.Asn1537His)
c.2506A>C (p.Asn836His)
c.4948A>C (p.Asn1650His)
c.4939A>C (p.Asn1647His)
c.4930A>C (p.Asn1644His)
c.3268A>C (p.Asn1090His)
Xg.108695378A>GCA414132875COL4A5c.4933A>G (p.Asn1645Asp)
c.4915A>G (p.Asn1639Asp)
n.1427A>G
n.1764A>G
c.219+457A>G (n.219+457A>G)
c.325-919A>G
c.4924A>G (p.Asn1642Asp)
c.4609A>G (p.Asn1537Asp)
c.2506A>G (p.Asn836Asp)
c.4948A>G (p.Asn1650Asp)
c.4939A>G (p.Asn1647Asp)
c.4930A>G (p.Asn1644Asp)
c.3268A>G (p.Asn1090Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.108695378A>TCA414132876COL4A5c.4933A>T (p.Asn1645Tyr)
c.4915A>T (p.Asn1639Tyr)
n.1427A>T
n.1764A>T
c.219+457A>T (n.219+457A>T)
c.325-919A>T
c.4924A>T (p.Asn1642Tyr)
c.4609A>T (p.Asn1537Tyr)
c.2506A>T (p.Asn836Tyr)
c.4948A>T (p.Asn1650Tyr)
c.4939A>T (p.Asn1647Tyr)
c.4930A>T (p.Asn1644Tyr)
c.3268A>T (p.Asn1090Tyr)
Xg.108695379A>CCA414132877COL4A5c.4934A>C (p.Asn1645Thr)
c.4916A>C (p.Asn1639Thr)
n.1428A>C
n.1765A>C
c.219+458A>C (n.219+458A>C)
c.325-918A>C
c.4925A>C (p.Asn1642Thr)
c.4610A>C (p.Asn1537Thr)
c.2507A>C (p.Asn836Thr)
c.4949A>C (p.Asn1650Thr)
c.4940A>C (p.Asn1647Thr)
c.4931A>C (p.Asn1644Thr)
c.3269A>C (p.Asn1090Thr)
Xg.108695379A>GCA414132878COL4A5c.4934A>G (p.Asn1645Ser)
c.4916A>G (p.Asn1639Ser)
n.1428A>G
n.1765A>G
c.219+458A>G (n.219+458A>G)
c.325-918A>G
c.4925A>G (p.Asn1642Ser)
c.4610A>G (p.Asn1537Ser)
c.2507A>G (p.Asn836Ser)
c.4949A>G (p.Asn1650Ser)
c.4940A>G (p.Asn1647Ser)
c.4931A>G (p.Asn1644Ser)
c.3269A>G (p.Asn1090Ser)
Xg.108695379A>TCA414132879COL4A5c.4934A>T (p.Asn1645Ile)
c.4916A>T (p.Asn1639Ile)
n.1428A>T
n.1765A>T
c.219+458A>T (n.219+458A>T)
c.325-918A>T
c.4925A>T (p.Asn1642Ile)
c.4610A>T (p.Asn1537Ile)
c.2507A>T (p.Asn836Ile)
c.4949A>T (p.Asn1650Ile)
c.4940A>T (p.Asn1647Ile)
c.4931A>T (p.Asn1644Ile)
c.3269A>T (p.Asn1090Ile)
Xg.108695380C>ACA414132880COL4A5c.4935C>A (p.Asn1645Lys)
c.4917C>A (p.Asn1639Lys)
n.1429C>A
n.1766C>A
c.219+459C>A (n.219+459C>A)
c.325-917C>A
c.4926C>A (p.Asn1642Lys)
c.4611C>A (p.Asn1537Lys)
c.2508C>A (p.Asn836Lys)
c.4950C>A (p.Asn1650Lys)
c.4941C>A (p.Asn1647Lys)
c.4932C>A (p.Asn1644Lys)
c.3270C>A (p.Asn1090Lys)
Xg.108695380C>GCA414132881COL4A5c.4935C>G (p.Asn1645Lys)
c.4917C>G (p.Asn1639Lys)
n.1429C>G
n.1766C>G
c.219+459C>G (n.219+459C>G)
c.325-917C>G
c.4926C>G (p.Asn1642Lys)
c.4611C>G (p.Asn1537Lys)
c.2508C>G (p.Asn836Lys)
c.4950C>G (p.Asn1650Lys)
c.4941C>G (p.Asn1647Lys)
c.4932C>G (p.Asn1644Lys)
c.3270C>G (p.Asn1090Lys)
Xg.108695380C>TCA517926133COL4A5c.4935C>T (p.Asn1645=)
c.4917C>T (p.Asn1639=)
n.1429C>T
n.1766C>T
c.219+459C>T (n.219+459C>T)
c.325-917C>T
c.4926C>T (p.Asn1642=)
c.4611C>T (p.Asn1537=)
c.2508C>T (p.Asn836=)
c.4950C>T (p.Asn1650=)
c.4941C>T (p.Asn1647=)
c.4932C>T (p.Asn1644=)
c.3270C>T (p.Asn1090=)
Xg.108695381T>ACA414132882COL4A5c.4936T>A (p.Tyr1646Asn)
c.4918T>A (p.Tyr1640Asn)
n.1430T>A
n.1767T>A
c.219+460T>A (n.219+460T>A)
c.325-916T>A
c.4927T>A (p.Tyr1643Asn)
c.4612T>A (p.Tyr1538Asn)
c.2509T>A (p.Tyr837Asn)
c.4951T>A (p.Tyr1651Asn)
c.4942T>A (p.Tyr1648Asn)
c.4933T>A (p.Tyr1645Asn)
c.3271T>A (p.Tyr1091Asn)
Xg.108695381T>CCA414132883COL4A5c.4936T>C (p.Tyr1646His)
c.4918T>C (p.Tyr1640His)
n.1430T>C
n.1767T>C
c.219+460T>C (n.219+460T>C)
c.325-916T>C
c.4927T>C (p.Tyr1643His)
c.4612T>C (p.Tyr1538His)
c.2509T>C (p.Tyr837His)
c.4951T>C (p.Tyr1651His)
c.4942T>C (p.Tyr1648His)
c.4933T>C (p.Tyr1645His)
c.3271T>C (p.Tyr1091His)
Xg.108695381T>GCA414132884COL4A5c.4936T>G (p.Tyr1646Asp)
c.4918T>G (p.Tyr1640Asp)
n.1430T>G
n.1767T>G
c.219+460T>G (n.219+460T>G)
c.325-916T>G
c.4927T>G (p.Tyr1643Asp)
c.4612T>G (p.Tyr1538Asp)
c.2509T>G (p.Tyr837Asp)
c.4951T>G (p.Tyr1651Asp)
c.4942T>G (p.Tyr1648Asp)
c.4933T>G (p.Tyr1645Asp)
c.3271T>G (p.Tyr1091Asp)
Xg.108695382A=CA2450721766COL4A5c.4937A= (p.Tyr1646=)
c.4919A= (p.Tyr1640=)
n.1431A=
n.1768A=
c.219+461A= (n.219+461A=)
c.325-915A=
c.4928A= (p.Tyr1643=)
c.4613A= (p.Tyr1538=)
c.2510A= (p.Tyr837=)
c.4952A= (p.Tyr1651=)
c.4943A= (p.Tyr1648=)
c.4934A= (p.Tyr1645=)
c.3272A= (p.Tyr1091=)
Xg.108695382A>CCA414132886COL4A5c.4937A>C (p.Tyr1646Ser)
c.4919A>C (p.Tyr1640Ser)
n.1431A>C
n.1768A>C
c.219+461A>C (n.219+461A>C)
c.325-915A>C
c.4928A>C (p.Tyr1643Ser)
c.4613A>C (p.Tyr1538Ser)
c.2510A>C (p.Tyr837Ser)
c.4952A>C (p.Tyr1651Ser)
c.4943A>C (p.Tyr1648Ser)
c.4934A>C (p.Tyr1645Ser)
c.3272A>C (p.Tyr1091Ser)
Xg.108695382A>GCA334063393COL4A5c.4937A>G (p.Tyr1646Cys)
c.4919A>G (p.Tyr1640Cys)
n.1431A>G
n.1768A>G
c.219+461A>G (n.219+461A>G)
c.325-915A>G
c.4928A>G (p.Tyr1643Cys)
c.4613A>G (p.Tyr1538Cys)
c.2510A>G (p.Tyr837Cys)
c.4952A>G (p.Tyr1651Cys)
c.4943A>G (p.Tyr1648Cys)
c.4934A>G (p.Tyr1645Cys)
c.3272A>G (p.Tyr1091Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108695382A>TCA414132885COL4A5c.4937A>T (p.Tyr1646Phe)
c.4919A>T (p.Tyr1640Phe)
n.1431A>T
n.1768A>T
c.219+461A>T (n.219+461A>T)
c.325-915A>T
c.4928A>T (p.Tyr1643Phe)
c.4613A>T (p.Tyr1538Phe)
c.2510A>T (p.Tyr837Phe)
c.4952A>T (p.Tyr1651Phe)
c.4943A>T (p.Tyr1648Phe)
c.4934A>T (p.Tyr1645Phe)
c.3272A>T (p.Tyr1091Phe)
Xg.108695383C>ACA414132887COL4A5c.4938C>A (p.Tyr1646Ter)
c.4920C>A (p.Tyr1640Ter)
n.1432C>A
n.1769C>A
c.219+462C>A (n.219+462C>A)
c.325-914C>A
c.4929C>A (p.Tyr1643Ter)
c.4614C>A (p.Tyr1538Ter)
c.2511C>A (p.Tyr837Ter)
c.4953C>A (p.Tyr1651Ter)
c.4944C>A (p.Tyr1648Ter)
c.4935C>A (p.Tyr1645Ter)
c.3273C>A (p.Tyr1091Ter)
Xg.108695383C=CA2450721767COL4A5c.4938C= (p.Tyr1646=)
c.4920C= (p.Tyr1640=)
n.1432C=
n.1769C=
c.219+462C= (n.219+462C=)
c.325-914C=
c.4929C= (p.Tyr1643=)
c.4614C= (p.Tyr1538=)
c.2511C= (p.Tyr837=)
c.4953C= (p.Tyr1651=)
c.4944C= (p.Tyr1648=)
c.4935C= (p.Tyr1645=)
c.3273C= (p.Tyr1091=)
Xg.108695383C>GCA414132888COL4A5c.4938C>G (p.Tyr1646Ter)
c.4920C>G (p.Tyr1640Ter)
n.1432C>G
n.1769C>G
c.219+462C>G (n.219+462C>G)
c.325-914C>G
c.4929C>G (p.Tyr1643Ter)
c.4614C>G (p.Tyr1538Ter)
c.2511C>G (p.Tyr837Ter)
c.4953C>G (p.Tyr1651Ter)
c.4944C>G (p.Tyr1648Ter)
c.4935C>G (p.Tyr1645Ter)
c.3273C>G (p.Tyr1091Ter)
 ClinVar dbSNP
Xg.108695383C>TCA517926134COL4A5c.4938C>T (p.Tyr1646=)
c.4920C>T (p.Tyr1640=)
n.1432C>T
n.1769C>T
c.219+462C>T (n.219+462C>T)
c.325-914C>T
c.4929C>T (p.Tyr1643=)
c.4614C>T (p.Tyr1538=)
c.2511C>T (p.Tyr837=)
c.4953C>T (p.Tyr1651=)
c.4944C>T (p.Tyr1648=)
c.4935C>T (p.Tyr1645=)
c.3273C>T (p.Tyr1091=)
Xg.108695384T>ACA414132889COL4A5c.4939T>A (p.Tyr1647Asn)
c.4921T>A (p.Tyr1641Asn)
n.1433T>A
n.1770T>A
c.219+463T>A (n.219+463T>A)
c.325-913T>A
c.4930T>A (p.Tyr1644Asn)
c.4615T>A (p.Tyr1539Asn)
c.2512T>A (p.Tyr838Asn)
c.4954T>A (p.Tyr1652Asn)
c.4945T>A (p.Tyr1649Asn)
c.4936T>A (p.Tyr1646Asn)
c.3274T>A (p.Tyr1092Asn)
Xg.108695384T>CCA334063399COL4A5c.4939T>C (p.Tyr1647His)
c.4921T>C (p.Tyr1641His)
n.1433T>C
n.1770T>C
c.219+463T>C (n.219+463T>C)
c.325-913T>C
c.4930T>C (p.Tyr1644His)
c.4615T>C (p.Tyr1539His)
c.2512T>C (p.Tyr838His)
c.4954T>C (p.Tyr1652His)
c.4945T>C (p.Tyr1649His)
c.4936T>C (p.Tyr1646His)
c.3274T>C (p.Tyr1092His)
 dbSNP gnomAD v4
Xg.108695384T>GCA414132890COL4A5c.4939T>G (p.Tyr1647Asp)
c.4921T>G (p.Tyr1641Asp)
n.1433T>G
n.1770T>G
c.219+463T>G (n.219+463T>G)
c.325-913T>G
c.4930T>G (p.Tyr1644Asp)
c.4615T>G (p.Tyr1539Asp)
c.2512T>G (p.Tyr838Asp)
c.4954T>G (p.Tyr1652Asp)
c.4945T>G (p.Tyr1649Asp)
c.4936T>G (p.Tyr1646Asp)
c.3274T>G (p.Tyr1092Asp)
Xg.108695384T=CA2450721768COL4A5c.4939T= (p.Tyr1647=)
c.4921T= (p.Tyr1641=)
n.1433T=
n.1770T=
c.219+463T= (n.219+463T=)
c.325-913T=
c.4930T= (p.Tyr1644=)
c.4615T= (p.Tyr1539=)
c.2512T= (p.Tyr838=)
c.4954T= (p.Tyr1652=)
c.4945T= (p.Tyr1649=)
c.4936T= (p.Tyr1646=)
c.3274T= (p.Tyr1092=)
Xg.108695385A>CCA414132891COL4A5c.4940A>C (p.Tyr1647Ser)
c.4922A>C (p.Tyr1641Ser)
n.1434A>C
n.1771A>C
c.219+464A>C (n.219+464A>C)
c.325-912A>C
c.4931A>C (p.Tyr1644Ser)
c.4616A>C (p.Tyr1539Ser)
c.2513A>C (p.Tyr838Ser)
c.4955A>C (p.Tyr1652Ser)
c.4946A>C (p.Tyr1649Ser)
c.4937A>C (p.Tyr1646Ser)
c.3275A>C (p.Tyr1092Ser)
Xg.108695385A>GCA414132892COL4A5c.4940A>G (p.Tyr1647Cys)
c.4922A>G (p.Tyr1641Cys)
n.1434A>G
n.1771A>G
c.219+464A>G (n.219+464A>G)
c.325-912A>G
c.4931A>G (p.Tyr1644Cys)
c.4616A>G (p.Tyr1539Cys)
c.2513A>G (p.Tyr838Cys)
c.4955A>G (p.Tyr1652Cys)
c.4946A>G (p.Tyr1649Cys)
c.4937A>G (p.Tyr1646Cys)
c.3275A>G (p.Tyr1092Cys)
 ClinVar dbSNP gnomAD v4
Xg.108695385A>TCA414132893COL4A5c.4940A>T (p.Tyr1647Phe)
c.4922A>T (p.Tyr1641Phe)
n.1434A>T
n.1771A>T
c.219+464A>T (n.219+464A>T)
c.325-912A>T
c.4931A>T (p.Tyr1644Phe)
c.4616A>T (p.Tyr1539Phe)
c.2513A>T (p.Tyr838Phe)
c.4955A>T (p.Tyr1652Phe)
c.4946A>T (p.Tyr1649Phe)
c.4937A>T (p.Tyr1646Phe)
c.3275A>T (p.Tyr1092Phe)
Xg.108695386T>ACA414132894COL4A5c.4941T>A (p.Tyr1647Ter)
c.4923T>A (p.Tyr1641Ter)
n.1435T>A
n.1772T>A
c.219+465T>A (n.219+465T>A)
c.325-911T>A
c.4932T>A (p.Tyr1644Ter)
c.4617T>A (p.Tyr1539Ter)
c.2514T>A (p.Tyr838Ter)
c.4956T>A (p.Tyr1652Ter)
c.4947T>A (p.Tyr1649Ter)
c.4938T>A (p.Tyr1646Ter)
c.3276T>A (p.Tyr1092Ter)
Xg.108695386T>CCA517926135COL4A5c.4941T>C (p.Tyr1647=)
c.4923T>C (p.Tyr1641=)
n.1435T>C
n.1772T>C
c.219+465T>C (n.219+465T>C)
c.325-911T>C
c.4932T>C (p.Tyr1644=)
c.4617T>C (p.Tyr1539=)
c.2514T>C (p.Tyr838=)
c.4956T>C (p.Tyr1652=)
c.4947T>C (p.Tyr1649=)
c.4938T>C (p.Tyr1646=)
c.3276T>C (p.Tyr1092=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695386T>GCA414132895COL4A5c.4941T>G (p.Tyr1647Ter)
c.4923T>G (p.Tyr1641Ter)
n.1435T>G
n.1772T>G
c.219+465T>G (n.219+465T>G)
c.325-911T>G
c.4932T>G (p.Tyr1644Ter)
c.4617T>G (p.Tyr1539Ter)
c.2514T>G (p.Tyr838Ter)
c.4956T>G (p.Tyr1652Ter)
c.4947T>G (p.Tyr1649Ter)
c.4938T>G (p.Tyr1646Ter)
c.3276T>G (p.Tyr1092Ter)
Xg.108695386T=CA2450721769COL4A5c.4941T= (p.Tyr1647=)
c.4923T= (p.Tyr1641=)
n.1435T=
n.1772T=
c.219+465T= (n.219+465T=)
c.325-911T=
c.4932T= (p.Tyr1644=)
c.4617T= (p.Tyr1539=)
c.2514T= (p.Tyr838=)
c.4956T= (p.Tyr1652=)
c.4947T= (p.Tyr1649=)
c.4938T= (p.Tyr1646=)
c.3276T= (p.Tyr1092=)
Xg.108695387G>ACA414132896COL4A5c.4942G>A (p.Ala1648Thr)
c.4924G>A (p.Ala1642Thr)
n.1436G>A
n.1773G>A
c.219+466G>A (n.219+466G>A)
c.325-910G>A
c.4933G>A (p.Ala1645Thr)
c.4618G>A (p.Ala1540Thr)
c.2515G>A (p.Ala839Thr)
c.4957G>A (p.Ala1653Thr)
c.4948G>A (p.Ala1650Thr)
c.4939G>A (p.Ala1647Thr)
c.3277G>A (p.Ala1093Thr)
Xg.108695387G>CCA414132897COL4A5c.4942G>C (p.Ala1648Pro)
c.4924G>C (p.Ala1642Pro)
n.1436G>C
n.1773G>C
c.219+466G>C (n.219+466G>C)
c.325-910G>C
c.4933G>C (p.Ala1645Pro)
c.4618G>C (p.Ala1540Pro)
c.2515G>C (p.Ala839Pro)
c.4957G>C (p.Ala1653Pro)
c.4948G>C (p.Ala1650Pro)
c.4939G>C (p.Ala1647Pro)
c.3277G>C (p.Ala1093Pro)
Xg.108695387G>TCA414132898COL4A5c.4942G>T (p.Ala1648Ser)
c.4924G>T (p.Ala1642Ser)
n.1436G>T
n.1773G>T
c.219+466G>T (n.219+466G>T)
c.325-910G>T
c.4933G>T (p.Ala1645Ser)
c.4618G>T (p.Ala1540Ser)
c.2515G>T (p.Ala839Ser)
c.4957G>T (p.Ala1653Ser)
c.4948G>T (p.Ala1650Ser)
c.4939G>T (p.Ala1647Ser)
c.3277G>T (p.Ala1093Ser)
Xg.108695388C>ACA414132900COL4A5c.4943C>A (p.Ala1648Asp)
c.4925C>A (p.Ala1642Asp)
n.1437C>A
n.1774C>A
c.219+467C>A (n.219+467C>A)
c.325-909C>A
c.4934C>A (p.Ala1645Asp)
c.4619C>A (p.Ala1540Asp)
c.2516C>A (p.Ala839Asp)
c.4958C>A (p.Ala1653Asp)
c.4949C>A (p.Ala1650Asp)
c.4940C>A (p.Ala1647Asp)
c.3278C>A (p.Ala1093Asp)
Xg.108695388C>GCA414132901COL4A5c.4943C>G (p.Ala1648Gly)
c.4925C>G (p.Ala1642Gly)
n.1437C>G
n.1774C>G
c.219+467C>G (n.219+467C>G)
c.325-909C>G
c.4934C>G (p.Ala1645Gly)
c.4619C>G (p.Ala1540Gly)
c.2516C>G (p.Ala839Gly)
c.4958C>G (p.Ala1653Gly)
c.4949C>G (p.Ala1650Gly)
c.4940C>G (p.Ala1647Gly)
c.3278C>G (p.Ala1093Gly)
Xg.108695388C>TCA414132899COL4A5c.4943C>T (p.Ala1648Val)
c.4925C>T (p.Ala1642Val)
n.1437C>T
n.1774C>T
c.219+467C>T (n.219+467C>T)
c.325-909C>T
c.4934C>T (p.Ala1645Val)
c.4619C>T (p.Ala1540Val)
c.2516C>T (p.Ala839Val)
c.4958C>T (p.Ala1653Val)
c.4949C>T (p.Ala1650Val)
c.4940C>T (p.Ala1647Val)
c.3278C>T (p.Ala1093Val)
Xg.108695389delCA645617760COL4A5c.4944del (p.Asn1649ThrfsTer10)
c.4926del (p.Asn1643ThrfsTer10)
n.1438del
n.1775del
c.219+468del (n.219+468del)
c.325-908del
c.4935del (p.Asn1646ThrfsTer10)
c.4620del (p.Asn1541ThrfsTer10)
c.2517del (p.Asn840ThrfsTer10)
c.4959del (p.Asn1654ThrfsTer10)
c.4950del (p.Asn1651ThrfsTer10)
c.4941del (p.Asn1648ThrfsTer10)
c.3279del (p.Asn1094ThrfsTer10)
 COSMIC COSMIC
Xg.108695389C>ACA517926138COL4A5c.4944C>A (p.Ala1648=)
c.4926C>A (p.Ala1642=)
n.1438C>A
n.1775C>A
c.219+468C>A (n.219+468C>A)
c.325-908C>A
c.4935C>A (p.Ala1645=)
c.4620C>A (p.Ala1540=)
c.2517C>A (p.Ala839=)
c.4959C>A (p.Ala1653=)
c.4950C>A (p.Ala1650=)
c.4941C>A (p.Ala1647=)
c.3279C>A (p.Ala1093=)
Xg.108695389C>GCA517926136COL4A5c.4944C>G (p.Ala1648=)
c.4926C>G (p.Ala1642=)
n.1438C>G
n.1775C>G
c.219+468C>G (n.219+468C>G)
c.325-908C>G
c.4935C>G (p.Ala1645=)
c.4620C>G (p.Ala1540=)
c.2517C>G (p.Ala839=)
c.4959C>G (p.Ala1653=)
c.4950C>G (p.Ala1650=)
c.4941C>G (p.Ala1647=)
c.3279C>G (p.Ala1093=)
Xg.108695389C>TCA517926137COL4A5c.4944C>T (p.Ala1648=)
c.4926C>T (p.Ala1642=)
n.1438C>T
n.1775C>T
c.219+468C>T (n.219+468C>T)
c.325-908C>T
c.4935C>T (p.Ala1645=)
c.4620C>T (p.Ala1540=)
c.2517C>T (p.Ala839=)
c.4959C>T (p.Ala1653=)
c.4950C>T (p.Ala1650=)
c.4941C>T (p.Ala1647=)
c.3279C>T (p.Ala1093=)
Xg.108695390A>CCA414132902COL4A5c.4945A>C (p.Asn1649His)
c.4927A>C (p.Asn1643His)
n.1439A>C
n.1776A>C
c.219+469A>C (n.219+469A>C)
c.325-907A>C
c.4936A>C (p.Asn1646His)
c.4621A>C (p.Asn1541His)
c.2518A>C (p.Asn840His)
c.4960A>C (p.Asn1654His)
c.4951A>C (p.Asn1651His)
c.4942A>C (p.Asn1648His)
c.3280A>C (p.Asn1094His)
Xg.108695390A>GCA414132903COL4A5c.4945A>G (p.Asn1649Asp)
c.4927A>G (p.Asn1643Asp)
n.1439A>G
n.1776A>G
c.219+469A>G (n.219+469A>G)
c.325-907A>G
c.4936A>G (p.Asn1646Asp)
c.4621A>G (p.Asn1541Asp)
c.2518A>G (p.Asn840Asp)
c.4960A>G (p.Asn1654Asp)
c.4951A>G (p.Asn1651Asp)
c.4942A>G (p.Asn1648Asp)
c.3280A>G (p.Asn1094Asp)
Xg.108695390A>TCA414132904COL4A5c.4945A>T (p.Asn1649Tyr)
c.4927A>T (p.Asn1643Tyr)
n.1439A>T
n.1776A>T
c.219+469A>T (n.219+469A>T)
c.325-907A>T
c.4936A>T (p.Asn1646Tyr)
c.4621A>T (p.Asn1541Tyr)
c.2518A>T (p.Asn840Tyr)
c.4960A>T (p.Asn1654Tyr)
c.4951A>T (p.Asn1651Tyr)
c.4942A>T (p.Asn1648Tyr)
c.3280A>T (p.Asn1094Tyr)
Xg.108695391A>CCA414132905COL4A5c.4946A>C (p.Asn1649Thr)
c.4928A>C (p.Asn1643Thr)
n.1440A>C
n.1777A>C
c.219+470A>C (n.219+470A>C)
c.325-906A>C
c.4937A>C (p.Asn1646Thr)
c.4622A>C (p.Asn1541Thr)
c.2519A>C (p.Asn840Thr)
c.4961A>C (p.Asn1654Thr)
c.4952A>C (p.Asn1651Thr)
c.4943A>C (p.Asn1648Thr)
c.3281A>C (p.Asn1094Thr)
Xg.108695391A>GCA414132906COL4A5c.4946A>G (p.Asn1649Ser)
c.4928A>G (p.Asn1643Ser)
n.1440A>G
n.1777A>G
c.219+470A>G (n.219+470A>G)
c.325-906A>G
c.4937A>G (p.Asn1646Ser)
c.4622A>G (p.Asn1541Ser)
c.2519A>G (p.Asn840Ser)
c.4961A>G (p.Asn1654Ser)
c.4952A>G (p.Asn1651Ser)
c.4943A>G (p.Asn1648Ser)
c.3281A>G (p.Asn1094Ser)
 ClinVar
Xg.108695391A>TCA414132907COL4A5c.4946A>T (p.Asn1649Ile)
c.4928A>T (p.Asn1643Ile)
n.1440A>T
n.1777A>T
c.219+470A>T (n.219+470A>T)
c.325-906A>T
c.4937A>T (p.Asn1646Ile)
c.4622A>T (p.Asn1541Ile)
c.2519A>T (p.Asn840Ile)
c.4961A>T (p.Asn1654Ile)
c.4952A>T (p.Asn1651Ile)
c.4943A>T (p.Asn1648Ile)
c.3281A>T (p.Asn1094Ile)
Xg.108695392C>ACA414132909COL4A5c.4947C>A (p.Asn1649Lys)
c.4929C>A (p.Asn1643Lys)
n.1441C>A
n.1778C>A
c.219+471C>A (n.219+471C>A)
c.325-905C>A
c.4938C>A (p.Asn1646Lys)
c.4623C>A (p.Asn1541Lys)
c.2520C>A (p.Asn840Lys)
c.4962C>A (p.Asn1654Lys)
c.4953C>A (p.Asn1651Lys)
c.4944C>A (p.Asn1648Lys)
c.3282C>A (p.Asn1094Lys)
Xg.108695392C>GCA414132908COL4A5c.4947C>G (p.Asn1649Lys)
c.4929C>G (p.Asn1643Lys)
n.1441C>G
n.1778C>G
c.219+471C>G (n.219+471C>G)
c.325-905C>G
c.4938C>G (p.Asn1646Lys)
c.4623C>G (p.Asn1541Lys)
c.2520C>G (p.Asn840Lys)
c.4962C>G (p.Asn1654Lys)
c.4953C>G (p.Asn1651Lys)
c.4944C>G (p.Asn1648Lys)
c.3282C>G (p.Asn1094Lys)
Xg.108695392C>TCA517926139COL4A5c.4947C>T (p.Asn1649=)
c.4929C>T (p.Asn1643=)
n.1441C>T
n.1778C>T
c.219+471C>T (n.219+471C>T)
c.325-905C>T
c.4938C>T (p.Asn1646=)
c.4623C>T (p.Asn1541=)
c.2520C>T (p.Asn840=)
c.4962C>T (p.Asn1654=)
c.4953C>T (p.Asn1651=)
c.4944C>T (p.Asn1648=)
c.3282C>T (p.Asn1094=)
Xg.108695393T>ACA414132910COL4A5c.4948T>A (p.Ser1650Thr)
c.4930T>A (p.Ser1644Thr)
n.1442T>A
n.1779T>A
c.219+472T>A (n.219+472T>A)
c.325-904T>A
c.4939T>A (p.Ser1647Thr)
c.4624T>A (p.Ser1542Thr)
c.2521T>A (p.Ser841Thr)
c.4963T>A (p.Ser1655Thr)
c.4954T>A (p.Ser1652Thr)
c.4945T>A (p.Ser1649Thr)
c.3283T>A (p.Ser1095Thr)
Xg.108695393T>CCA414132911COL4A5c.4948T>C (p.Ser1650Pro)
c.4930T>C (p.Ser1644Pro)
n.1442T>C
n.1779T>C
c.219+472T>C (n.219+472T>C)
c.325-904T>C
c.4939T>C (p.Ser1647Pro)
c.4624T>C (p.Ser1542Pro)
c.2521T>C (p.Ser841Pro)
c.4963T>C (p.Ser1655Pro)
c.4954T>C (p.Ser1652Pro)
c.4945T>C (p.Ser1649Pro)
c.3283T>C (p.Ser1095Pro)
Xg.108695393T>GCA414132912COL4A5c.4948T>G (p.Ser1650Ala)
c.4930T>G (p.Ser1644Ala)
n.1442T>G
n.1779T>G
c.219+472T>G (n.219+472T>G)
c.325-904T>G
c.4939T>G (p.Ser1647Ala)
c.4624T>G (p.Ser1542Ala)
c.2521T>G (p.Ser841Ala)
c.4963T>G (p.Ser1655Ala)
c.4954T>G (p.Ser1652Ala)
c.4945T>G (p.Ser1649Ala)
c.3283T>G (p.Ser1095Ala)
Xg.108695394C>ACA414132913COL4A5c.4949C>A (p.Ser1650Tyr)
c.4931C>A (p.Ser1644Tyr)
n.1443C>A
n.1780C>A
c.219+473C>A (n.219+473C>A)
c.325-903C>A
c.4940C>A (p.Ser1647Tyr)
c.4625C>A (p.Ser1542Tyr)
c.2522C>A (p.Ser841Tyr)
c.4964C>A (p.Ser1655Tyr)
c.4955C>A (p.Ser1652Tyr)
c.4946C>A (p.Ser1649Tyr)
c.3284C>A (p.Ser1095Tyr)
Xg.108695394C=CA2450721770COL4A5c.4949C= (p.Ser1650=)
c.4931C= (p.Ser1644=)
n.1443C=
n.1780C=
c.219+473C= (n.219+473C=)
c.325-903C=
c.4940C= (p.Ser1647=)
c.4625C= (p.Ser1542=)
c.2522C= (p.Ser841=)
c.4964C= (p.Ser1655=)
c.4955C= (p.Ser1652=)
c.4946C= (p.Ser1649=)
c.3284C= (p.Ser1095=)
Xg.108695394C>GCA414132914COL4A5c.4949C>G (p.Ser1650Cys)
c.4931C>G (p.Ser1644Cys)
n.1443C>G
n.1780C>G
c.219+473C>G (n.219+473C>G)
c.325-903C>G
c.4940C>G (p.Ser1647Cys)
c.4625C>G (p.Ser1542Cys)
c.2522C>G (p.Ser841Cys)
c.4964C>G (p.Ser1655Cys)
c.4955C>G (p.Ser1652Cys)
c.4946C>G (p.Ser1649Cys)
c.3284C>G (p.Ser1095Cys)
Xg.108695394C>TCA414132915COL4A5c.4949C>T (p.Ser1650Phe)
c.4931C>T (p.Ser1644Phe)
n.1443C>T
n.1780C>T
c.219+473C>T (n.219+473C>T)
c.325-903C>T
c.4940C>T (p.Ser1647Phe)
c.4625C>T (p.Ser1542Phe)
c.2522C>T (p.Ser841Phe)
c.4964C>T (p.Ser1655Phe)
c.4955C>T (p.Ser1652Phe)
c.4946C>T (p.Ser1649Phe)
c.3284C>T (p.Ser1095Phe)
 COSMIC COSMIC
Xg.108695395delCA2579677324COL4A5c.4950del (p.Tyr1651ThrfsTer8)
c.4932del (p.Tyr1645ThrfsTer8)
n.1444del
n.1781del
c.219+474del (n.219+474del)
c.325-902del
c.4941del (p.Tyr1648ThrfsTer8)
c.4626del (p.Tyr1543ThrfsTer8)
c.2523del (p.Tyr842ThrfsTer8)
c.4965del (p.Tyr1656ThrfsTer8)
c.4956del (p.Tyr1653ThrfsTer8)
c.4947del (p.Tyr1650ThrfsTer8)
c.3285del (p.Tyr1096ThrfsTer8)
Xg.108695395C>ACA517926141COL4A5c.4950C>A (p.Ser1650=)
c.4932C>A (p.Ser1644=)
n.1444C>A
n.1781C>A
c.219+474C>A (n.219+474C>A)
c.325-902C>A
c.4941C>A (p.Ser1647=)
c.4626C>A (p.Ser1542=)
c.2523C>A (p.Ser841=)
c.4965C>A (p.Ser1655=)
c.4956C>A (p.Ser1652=)
c.4947C>A (p.Ser1649=)
c.3285C>A (p.Ser1095=)
Xg.108695395C>GCA517926140COL4A5c.4950C>G (p.Ser1650=)
c.4932C>G (p.Ser1644=)
n.1444C>G
n.1781C>G
c.219+474C>G (n.219+474C>G)
c.325-902C>G
c.4941C>G (p.Ser1647=)
c.4626C>G (p.Ser1542=)
c.2523C>G (p.Ser841=)
c.4965C>G (p.Ser1655=)
c.4956C>G (p.Ser1652=)
c.4947C>G (p.Ser1649=)
c.3285C>G (p.Ser1095=)
Xg.108695395C>TCA517926142COL4A5c.4950C>T (p.Ser1650=)
c.4932C>T (p.Ser1644=)
n.1444C>T
n.1781C>T
c.219+474C>T (n.219+474C>T)
c.325-902C>T
c.4941C>T (p.Ser1647=)
c.4626C>T (p.Ser1542=)
c.2523C>T (p.Ser841=)
c.4965C>T (p.Ser1655=)
c.4956C>T (p.Ser1652=)
c.4947C>T (p.Ser1649=)
c.3285C>T (p.Ser1095=)
Xg.108695396T>ACA414132918COL4A5c.4951T>A (p.Tyr1651Asn)
c.4933T>A (p.Tyr1645Asn)
n.1445T>A
n.1782T>A
c.219+475T>A (n.219+475T>A)
c.325-901T>A
c.4942T>A (p.Tyr1648Asn)
c.4627T>A (p.Tyr1543Asn)
c.2524T>A (p.Tyr842Asn)
c.4966T>A (p.Tyr1656Asn)
c.4957T>A (p.Tyr1653Asn)
c.4948T>A (p.Tyr1650Asn)
c.3286T>A (p.Tyr1096Asn)
 gnomAD v4
Xg.108695396T>CCA414132916COL4A5c.4951T>C (p.Tyr1651His)
c.4933T>C (p.Tyr1645His)
n.1445T>C
n.1782T>C
c.219+475T>C (n.219+475T>C)
c.325-901T>C
c.4942T>C (p.Tyr1648His)
c.4627T>C (p.Tyr1543His)
c.2524T>C (p.Tyr842His)
c.4966T>C (p.Tyr1656His)
c.4957T>C (p.Tyr1653His)
c.4948T>C (p.Tyr1650His)
c.3286T>C (p.Tyr1096His)
Xg.108695396T>GCA414132917COL4A5c.4951T>G (p.Tyr1651Asp)
c.4933T>G (p.Tyr1645Asp)
n.1445T>G
n.1782T>G
c.219+475T>G (n.219+475T>G)
c.325-901T>G
c.4942T>G (p.Tyr1648Asp)
c.4627T>G (p.Tyr1543Asp)
c.2524T>G (p.Tyr842Asp)
c.4966T>G (p.Tyr1656Asp)
c.4957T>G (p.Tyr1653Asp)
c.4948T>G (p.Tyr1650Asp)
c.3286T>G (p.Tyr1096Asp)
Xg.108695397A=CA2450721771COL4A5c.4952A= (p.Tyr1651=)
c.4934A= (p.Tyr1645=)
n.1446A=
n.1783A=
c.219+476A= (n.219+476A=)
c.325-900A=
c.4943A= (p.Tyr1648=)
c.4628A= (p.Tyr1543=)
c.2525A= (p.Tyr842=)
c.4967A= (p.Tyr1656=)
c.4958A= (p.Tyr1653=)
c.4949A= (p.Tyr1650=)
c.3287A= (p.Tyr1096=)
Xg.108695397A>CCA414132919COL4A5c.4952A>C (p.Tyr1651Ser)
c.4934A>C (p.Tyr1645Ser)
n.1446A>C
n.1783A>C
c.219+476A>C (n.219+476A>C)
c.325-900A>C
c.4943A>C (p.Tyr1648Ser)
c.4628A>C (p.Tyr1543Ser)
c.2525A>C (p.Tyr842Ser)
c.4967A>C (p.Tyr1656Ser)
c.4958A>C (p.Tyr1653Ser)
c.4949A>C (p.Tyr1650Ser)
c.3287A>C (p.Tyr1096Ser)
Xg.108695397A>GCA414132920COL4A5c.4952A>G (p.Tyr1651Cys)
c.4934A>G (p.Tyr1645Cys)
n.1446A>G
n.1783A>G
c.219+476A>G (n.219+476A>G)
c.325-900A>G
c.4943A>G (p.Tyr1648Cys)
c.4628A>G (p.Tyr1543Cys)
c.2525A>G (p.Tyr842Cys)
c.4967A>G (p.Tyr1656Cys)
c.4958A>G (p.Tyr1653Cys)
c.4949A>G (p.Tyr1650Cys)
c.3287A>G (p.Tyr1096Cys)
 ClinVar dbSNP
Xg.108695397A>TCA414132921COL4A5c.4952A>T (p.Tyr1651Phe)
c.4934A>T (p.Tyr1645Phe)
n.1446A>T
n.1783A>T
c.219+476A>T (n.219+476A>T)
c.325-900A>T
c.4943A>T (p.Tyr1648Phe)
c.4628A>T (p.Tyr1543Phe)
c.2525A>T (p.Tyr842Phe)
c.4967A>T (p.Tyr1656Phe)
c.4958A>T (p.Tyr1653Phe)
c.4949A>T (p.Tyr1650Phe)
c.3287A>T (p.Tyr1096Phe)
Xg.108695398C>ACA414132922COL4A5c.4953C>A (p.Tyr1651Ter)
c.4935C>A (p.Tyr1645Ter)
n.1447C>A
n.1784C>A
c.219+477C>A (n.219+477C>A)
c.325-899C>A
c.4944C>A (p.Tyr1648Ter)
c.4629C>A (p.Tyr1543Ter)
c.2526C>A (p.Tyr842Ter)
c.4968C>A (p.Tyr1656Ter)
c.4959C>A (p.Tyr1653Ter)
c.4950C>A (p.Tyr1650Ter)
c.3288C>A (p.Tyr1096Ter)
Xg.108695398C>GCA414132923COL4A5c.4953C>G (p.Tyr1651Ter)
c.4935C>G (p.Tyr1645Ter)
n.1447C>G
n.1784C>G
c.219+477C>G (n.219+477C>G)
c.325-899C>G
c.4944C>G (p.Tyr1648Ter)
c.4629C>G (p.Tyr1543Ter)
c.2526C>G (p.Tyr842Ter)
c.4968C>G (p.Tyr1656Ter)
c.4959C>G (p.Tyr1653Ter)
c.4950C>G (p.Tyr1650Ter)
c.3288C>G (p.Tyr1096Ter)
Xg.108695398C>TCA517926143COL4A5c.4953C>T (p.Tyr1651=)
c.4935C>T (p.Tyr1645=)
n.1447C>T
n.1784C>T
c.219+477C>T (n.219+477C>T)
c.325-899C>T
c.4944C>T (p.Tyr1648=)
c.4629C>T (p.Tyr1543=)
c.2526C>T (p.Tyr842=)
c.4968C>T (p.Tyr1656=)
c.4959C>T (p.Tyr1653=)
c.4950C>T (p.Tyr1650=)
c.3288C>T (p.Tyr1096=)
 ClinVar dbSNP
Xg.108695399A>CCA414132924COL4A5c.4954A>C (p.Ser1652Arg)
c.4936A>C (p.Ser1646Arg)
n.1448A>C
n.1785A>C
c.219+478A>C (n.219+478A>C)
c.325-898A>C
c.4945A>C (p.Ser1649Arg)
c.4630A>C (p.Ser1544Arg)
c.2527A>C (p.Ser843Arg)
c.4969A>C (p.Ser1657Arg)
c.4960A>C (p.Ser1654Arg)
c.4951A>C (p.Ser1651Arg)
c.3289A>C (p.Ser1097Arg)
Xg.108695399A>GCA414132925COL4A5c.4954A>G (p.Ser1652Gly)
c.4936A>G (p.Ser1646Gly)
n.1448A>G
n.1785A>G
c.219+478A>G (n.219+478A>G)
c.325-898A>G
c.4945A>G (p.Ser1649Gly)
c.4630A>G (p.Ser1544Gly)
c.2527A>G (p.Ser843Gly)
c.4969A>G (p.Ser1657Gly)
c.4960A>G (p.Ser1654Gly)
c.4951A>G (p.Ser1651Gly)
c.3289A>G (p.Ser1097Gly)
Xg.108695399A>TCA414132926COL4A5c.4954A>T (p.Ser1652Cys)
c.4936A>T (p.Ser1646Cys)
n.1448A>T
n.1785A>T
c.219+478A>T (n.219+478A>T)
c.325-898A>T
c.4945A>T (p.Ser1649Cys)
c.4630A>T (p.Ser1544Cys)
c.2527A>T (p.Ser843Cys)
c.4969A>T (p.Ser1657Cys)
c.4960A>T (p.Ser1654Cys)
c.4951A>T (p.Ser1651Cys)
c.3289A>T (p.Ser1097Cys)
Xg.108695400G>ACA414132927COL4A5c.4955G>A (p.Ser1652Asn)
c.4937G>A (p.Ser1646Asn)
n.1449G>A
n.1786G>A
c.219+479G>A (n.219+479G>A)
c.325-897G>A
c.4946G>A (p.Ser1649Asn)
c.4631G>A (p.Ser1544Asn)
c.2528G>A (p.Ser843Asn)
c.4970G>A (p.Ser1657Asn)
c.4961G>A (p.Ser1654Asn)
c.4952G>A (p.Ser1651Asn)
c.3290G>A (p.Ser1097Asn)
Xg.108695400G>CCA414132928COL4A5c.4955G>C (p.Ser1652Thr)
c.4937G>C (p.Ser1646Thr)
n.1449G>C
n.1786G>C
c.219+479G>C (n.219+479G>C)
c.325-897G>C
c.4946G>C (p.Ser1649Thr)
c.4631G>C (p.Ser1544Thr)
c.2528G>C (p.Ser843Thr)
c.4970G>C (p.Ser1657Thr)
c.4961G>C (p.Ser1654Thr)
c.4952G>C (p.Ser1651Thr)
c.3290G>C (p.Ser1097Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.108695400G=CA2450721772COL4A5c.4955G= (p.Ser1652=)
c.4937G= (p.Ser1646=)
n.1449G=
n.1786G=
c.219+479G= (n.219+479G=)
c.325-897G=
c.4946G= (p.Ser1649=)
c.4631G= (p.Ser1544=)
c.2528G= (p.Ser843=)
c.4970G= (p.Ser1657=)
c.4961G= (p.Ser1654=)
c.4952G= (p.Ser1651=)
c.3290G= (p.Ser1097=)
Xg.108695400G>TCA414132929COL4A5c.4955G>T (p.Ser1652Ile)
c.4937G>T (p.Ser1646Ile)
n.1449G>T
n.1786G>T
c.219+479G>T (n.219+479G>T)
c.325-897G>T
c.4946G>T (p.Ser1649Ile)
c.4631G>T (p.Ser1544Ile)
c.2528G>T (p.Ser843Ile)
c.4970G>T (p.Ser1657Ile)
c.4961G>T (p.Ser1654Ile)
c.4952G>T (p.Ser1651Ile)
c.3290G>T (p.Ser1097Ile)
Xg.108695401C>ACA414132930COL4A5c.4956C>A (p.Ser1652Arg)
c.4938C>A (p.Ser1646Arg)
n.1450C>A
n.1787C>A
c.219+480C>A (n.219+480C>A)
c.325-896C>A
c.4947C>A (p.Ser1649Arg)
c.4632C>A (p.Ser1544Arg)
c.2529C>A (p.Ser843Arg)
c.4971C>A (p.Ser1657Arg)
c.4962C>A (p.Ser1654Arg)
c.4953C>A (p.Ser1651Arg)
c.3291C>A (p.Ser1097Arg)
 COSMIC COSMIC
Xg.108695401C=CA2450721773COL4A5c.4956C= (p.Ser1652=)
c.4938C= (p.Ser1646=)
n.1450C=
n.1787C=
c.219+480C= (n.219+480C=)
c.325-896C=
c.4947C= (p.Ser1649=)
c.4632C= (p.Ser1544=)
c.2529C= (p.Ser843=)
c.4971C= (p.Ser1657=)
c.4962C= (p.Ser1654=)
c.4953C= (p.Ser1651=)
c.3291C= (p.Ser1097=)
Xg.108695401C>GCA414132931COL4A5c.4956C>G (p.Ser1652Arg)
c.4938C>G (p.Ser1646Arg)
n.1450C>G
n.1787C>G
c.219+480C>G (n.219+480C>G)
c.325-896C>G
c.4947C>G (p.Ser1649Arg)
c.4632C>G (p.Ser1544Arg)
c.2529C>G (p.Ser843Arg)
c.4971C>G (p.Ser1657Arg)
c.4962C>G (p.Ser1654Arg)
c.4953C>G (p.Ser1651Arg)
c.3291C>G (p.Ser1097Arg)
Xg.108695401C>TCA517926144COL4A5c.4956C>T (p.Ser1652=)
c.4938C>T (p.Ser1646=)
n.1450C>T
n.1787C>T
c.219+480C>T (n.219+480C>T)
c.325-896C>T
c.4947C>T (p.Ser1649=)
c.4632C>T (p.Ser1544=)
c.2529C>T (p.Ser843=)
c.4971C>T (p.Ser1657=)
c.4962C>T (p.Ser1654=)
c.4953C>T (p.Ser1651=)
c.3291C>T (p.Ser1097=)
Xg.108695402T>ACA414132932COL4A5c.4957T>A (p.Phe1653Ile)
c.4939T>A (p.Phe1647Ile)
n.1451T>A
n.1788T>A
c.219+481T>A (n.219+481T>A)
c.325-895T>A
c.4948T>A (p.Phe1650Ile)
c.4633T>A (p.Phe1545Ile)
c.2530T>A (p.Phe844Ile)
c.4972T>A (p.Phe1658Ile)
c.4963T>A (p.Phe1655Ile)
c.4954T>A (p.Phe1652Ile)
c.3292T>A (p.Phe1098Ile)
Xg.108695402T>CCA414132934COL4A5c.4957T>C (p.Phe1653Leu)
c.4939T>C (p.Phe1647Leu)
n.1451T>C
n.1788T>C
c.219+481T>C (n.219+481T>C)
c.325-895T>C
c.4948T>C (p.Phe1650Leu)
c.4633T>C (p.Phe1545Leu)
c.2530T>C (p.Phe844Leu)
c.4972T>C (p.Phe1658Leu)
c.4963T>C (p.Phe1655Leu)
c.4954T>C (p.Phe1652Leu)
c.3292T>C (p.Phe1098Leu)
Xg.108695402T>GCA414132933COL4A5c.4957T>G (p.Phe1653Val)
c.4939T>G (p.Phe1647Val)
n.1451T>G
n.1788T>G
c.219+481T>G (n.219+481T>G)
c.325-895T>G
c.4948T>G (p.Phe1650Val)
c.4633T>G (p.Phe1545Val)
c.2530T>G (p.Phe844Val)
c.4972T>G (p.Phe1658Val)
c.4963T>G (p.Phe1655Val)
c.4954T>G (p.Phe1652Val)
c.3292T>G (p.Phe1098Val)
Xg.108695405dupCA261106COL4A5c.4960dup (p.Trp1654LeufsTer13)
c.4942dup (p.Trp1648LeufsTer13)
n.1454dup
n.1791dup
c.219+484dup (n.219+484dup)
c.325-892dup
c.4951dup (p.Trp1651LeufsTer13)
c.4636dup (p.Trp1546LeufsTer13)
c.2533dup (p.Trp845LeufsTer13)
c.4975dup (p.Trp1659LeufsTer13)
c.4966dup (p.Trp1656LeufsTer13)
c.4957dup (p.Trp1653LeufsTer13)
c.3295dup (p.Trp1099LeufsTer13)
 dbSNP
Xg.108695403T>ACA414132935COL4A5c.4958T>A (p.Phe1653Tyr)
c.4940T>A (p.Phe1647Tyr)
n.1452T>A
n.1789T>A
c.219+482T>A (n.219+482T>A)
c.325-894T>A
c.4949T>A (p.Phe1650Tyr)
c.4634T>A (p.Phe1545Tyr)
c.2531T>A (p.Phe844Tyr)
c.4973T>A (p.Phe1658Tyr)
c.4964T>A (p.Phe1655Tyr)
c.4955T>A (p.Phe1652Tyr)
c.3293T>A (p.Phe1098Tyr)
Xg.108695403T>CCA414132936COL4A5c.4958T>C (p.Phe1653Ser)
c.4940T>C (p.Phe1647Ser)
n.1452T>C
n.1789T>C
c.219+482T>C (n.219+482T>C)
c.325-894T>C
c.4949T>C (p.Phe1650Ser)
c.4634T>C (p.Phe1545Ser)
c.2531T>C (p.Phe844Ser)
c.4973T>C (p.Phe1658Ser)
c.4964T>C (p.Phe1655Ser)
c.4955T>C (p.Phe1652Ser)
c.3293T>C (p.Phe1098Ser)
Xg.108695403T>GCA414132937COL4A5c.4958T>G (p.Phe1653Cys)
c.4940T>G (p.Phe1647Cys)
n.1452T>G
n.1789T>G
c.219+482T>G (n.219+482T>G)
c.325-894T>G
c.4949T>G (p.Phe1650Cys)
c.4634T>G (p.Phe1545Cys)
c.2531T>G (p.Phe844Cys)
c.4973T>G (p.Phe1658Cys)
c.4964T>G (p.Phe1655Cys)
c.4955T>G (p.Phe1652Cys)
c.3293T>G (p.Phe1098Cys)
Xg.108695404T>ACA414132938COL4A5c.4959T>A (p.Phe1653Leu)
c.4941T>A (p.Phe1647Leu)
n.1453T>A
n.1790T>A
c.219+483T>A (n.219+483T>A)
c.325-893T>A
c.4950T>A (p.Phe1650Leu)
c.4635T>A (p.Phe1545Leu)
c.2532T>A (p.Phe844Leu)
c.4974T>A (p.Phe1658Leu)
c.4965T>A (p.Phe1655Leu)
c.4956T>A (p.Phe1652Leu)
c.3294T>A (p.Phe1098Leu)
Xg.108695404T>CCA517926145COL4A5c.4959T>C (p.Phe1653=)
c.4941T>C (p.Phe1647=)
n.1453T>C
n.1790T>C
c.219+483T>C (n.219+483T>C)
c.325-893T>C
c.4950T>C (p.Phe1650=)
c.4635T>C (p.Phe1545=)
c.2532T>C (p.Phe844=)
c.4974T>C (p.Phe1658=)
c.4965T>C (p.Phe1655=)
c.4956T>C (p.Phe1652=)
c.3294T>C (p.Phe1098=)
 COSMIC
Xg.108695404T>GCA414132939COL4A5c.4959T>G (p.Phe1653Leu)
c.4941T>G (p.Phe1647Leu)
n.1453T>G
n.1790T>G
c.219+483T>G (n.219+483T>G)
c.325-893T>G
c.4950T>G (p.Phe1650Leu)
c.4635T>G (p.Phe1545Leu)
c.2532T>G (p.Phe844Leu)
c.4974T>G (p.Phe1658Leu)
c.4965T>G (p.Phe1655Leu)
c.4956T>G (p.Phe1652Leu)
c.3294T>G (p.Phe1098Leu)
Xg.108695405T>ACA414132940COL4A5c.4960T>A (p.Trp1654Arg)
c.4942T>A (p.Trp1648Arg)
n.1454T>A
n.1791T>A
c.219+484T>A (n.219+484T>A)
c.325-892T>A
c.4951T>A (p.Trp1651Arg)
c.4636T>A (p.Trp1546Arg)
c.2533T>A (p.Trp845Arg)
c.4975T>A (p.Trp1659Arg)
c.4966T>A (p.Trp1656Arg)
c.4957T>A (p.Trp1653Arg)
c.3295T>A (p.Trp1099Arg)
Xg.108695405T>CCA414132941COL4A5c.4960T>C (p.Trp1654Arg)
c.4942T>C (p.Trp1648Arg)
n.1454T>C
n.1791T>C
c.219+484T>C (n.219+484T>C)
c.325-892T>C
c.4951T>C (p.Trp1651Arg)
c.4636T>C (p.Trp1546Arg)
c.2533T>C (p.Trp845Arg)
c.4975T>C (p.Trp1659Arg)
c.4966T>C (p.Trp1656Arg)
c.4957T>C (p.Trp1653Arg)
c.3295T>C (p.Trp1099Arg)
 ClinVar dbSNP
Xg.108695405T>GCA414132942COL4A5c.4960T>G (p.Trp1654Gly)
c.4942T>G (p.Trp1648Gly)
n.1454T>G
n.1791T>G
c.219+484T>G (n.219+484T>G)
c.325-892T>G
c.4951T>G (p.Trp1651Gly)
c.4636T>G (p.Trp1546Gly)
c.2533T>G (p.Trp845Gly)
c.4975T>G (p.Trp1659Gly)
c.4966T>G (p.Trp1656Gly)
c.4957T>G (p.Trp1653Gly)
c.3295T>G (p.Trp1099Gly)
Xg.108695405T=CA2450721774COL4A5c.4960T= (p.Trp1654=)
c.4942T= (p.Trp1648=)
n.1454T=
n.1791T=
c.219+484T= (n.219+484T=)
c.325-892T=
c.4951T= (p.Trp1651=)
c.4636T= (p.Trp1546=)
c.2533T= (p.Trp845=)
c.4975T= (p.Trp1659=)
c.4966T= (p.Trp1656=)
c.4957T= (p.Trp1653=)
c.3295T= (p.Trp1099=)
Xg.108695406G>ACA414132943COL4A5c.4961G>A (p.Trp1654Ter)
c.4943G>A (p.Trp1648Ter)
n.1455G>A
n.1792G>A
c.219+485G>A (n.219+485G>A)
c.325-891G>A
c.4952G>A (p.Trp1651Ter)
c.4637G>A (p.Trp1546Ter)
c.2534G>A (p.Trp845Ter)
c.4976G>A (p.Trp1659Ter)
c.4967G>A (p.Trp1656Ter)
c.4958G>A (p.Trp1653Ter)
c.3296G>A (p.Trp1099Ter)
Xg.108695406G>CCA414132944COL4A5c.4961G>C (p.Trp1654Ser)
c.4943G>C (p.Trp1648Ser)
n.1455G>C
n.1792G>C
c.219+485G>C (n.219+485G>C)
c.325-891G>C
c.4952G>C (p.Trp1651Ser)
c.4637G>C (p.Trp1546Ser)
c.2534G>C (p.Trp845Ser)
c.4976G>C (p.Trp1659Ser)
c.4967G>C (p.Trp1656Ser)
c.4958G>C (p.Trp1653Ser)
c.3296G>C (p.Trp1099Ser)
Xg.108695406G>TCA414132945COL4A5c.4961G>T (p.Trp1654Leu)
c.4943G>T (p.Trp1648Leu)
n.1455G>T
n.1792G>T
c.219+485G>T (n.219+485G>T)
c.325-891G>T
c.4952G>T (p.Trp1651Leu)
c.4637G>T (p.Trp1546Leu)
c.2534G>T (p.Trp845Leu)
c.4976G>T (p.Trp1659Leu)
c.4967G>T (p.Trp1656Leu)
c.4958G>T (p.Trp1653Leu)
c.3296G>T (p.Trp1099Leu)
Xg.108695407G>ACA414132946COL4A5c.4962G>A (p.Trp1654Ter)
c.4944G>A (p.Trp1648Ter)
n.1456G>A
n.1793G>A
c.219+486G>A (n.219+486G>A)
c.325-890G>A
c.4953G>A (p.Trp1651Ter)
c.4638G>A (p.Trp1546Ter)
c.2535G>A (p.Trp845Ter)
c.4977G>A (p.Trp1659Ter)
c.4968G>A (p.Trp1656Ter)
c.4959G>A (p.Trp1653Ter)
c.3297G>A (p.Trp1099Ter)
 ClinVar dbSNP
Xg.108695407G>CCA414132947COL4A5c.4962G>C (p.Trp1654Cys)
c.4944G>C (p.Trp1648Cys)
n.1456G>C
n.1793G>C
c.219+486G>C (n.219+486G>C)
c.325-890G>C
c.4953G>C (p.Trp1651Cys)
c.4638G>C (p.Trp1546Cys)
c.2535G>C (p.Trp845Cys)
c.4977G>C (p.Trp1659Cys)
c.4968G>C (p.Trp1656Cys)
c.4959G>C (p.Trp1653Cys)
c.3297G>C (p.Trp1099Cys)
Xg.108695407G=CA2450721775COL4A5c.4962G= (p.Trp1654=)
c.4944G= (p.Trp1648=)
n.1456G=
n.1793G=
c.219+486G= (n.219+486G=)
c.325-890G=
c.4953G= (p.Trp1651=)
c.4638G= (p.Trp1546=)
c.2535G= (p.Trp845=)
c.4977G= (p.Trp1659=)
c.4968G= (p.Trp1656=)
c.4959G= (p.Trp1653=)
c.3297G= (p.Trp1099=)
Xg.108695407G>TCA414132948COL4A5c.4962G>T (p.Trp1654Cys)
c.4944G>T (p.Trp1648Cys)
n.1456G>T
n.1793G>T
c.219+486G>T (n.219+486G>T)
c.325-890G>T
c.4953G>T (p.Trp1651Cys)
c.4638G>T (p.Trp1546Cys)
c.2535G>T (p.Trp845Cys)
c.4977G>T (p.Trp1659Cys)
c.4968G>T (p.Trp1656Cys)
c.4959G>T (p.Trp1653Cys)
c.3297G>T (p.Trp1099Cys)
Xg.108695408C>ACA414132949COL4A5c.4963C>A (p.Leu1655Met)
c.4945C>A (p.Leu1649Met)
n.1457C>A
n.1794C>A
c.219+487C>A (n.219+487C>A)
c.325-889C>A
c.4954C>A (p.Leu1652Met)
c.4639C>A (p.Leu1547Met)
c.2536C>A (p.Leu846Met)
c.4978C>A (p.Leu1660Met)
c.4969C>A (p.Leu1657Met)
c.4960C>A (p.Leu1654Met)
c.3298C>A (p.Leu1100Met)
 COSMIC
Xg.108695408C>GCA414132950COL4A5c.4963C>G (p.Leu1655Val)
c.4945C>G (p.Leu1649Val)
n.1457C>G
n.1794C>G
c.219+487C>G (n.219+487C>G)
c.325-889C>G
c.4954C>G (p.Leu1652Val)
c.4639C>G (p.Leu1547Val)
c.2536C>G (p.Leu846Val)
c.4978C>G (p.Leu1660Val)
c.4969C>G (p.Leu1657Val)
c.4960C>G (p.Leu1654Val)
c.3298C>G (p.Leu1100Val)
Xg.108695408C>TCA517926146COL4A5c.4963C>T (p.Leu1655=)
c.4945C>T (p.Leu1649=)
n.1457C>T
n.1794C>T
c.219+487C>T (n.219+487C>T)
c.325-889C>T
c.4954C>T (p.Leu1652=)
c.4639C>T (p.Leu1547=)
c.2536C>T (p.Leu846=)
c.4978C>T (p.Leu1660=)
c.4969C>T (p.Leu1657=)
c.4960C>T (p.Leu1654=)
c.3298C>T (p.Leu1100=)
 ClinVar
Xg.108695409delCA2695235254COL4A5c.4964del (p.Leu1655ArgfsTer4)
c.4946del (p.Leu1649ArgfsTer4)
n.1458del
n.1795del
c.219+488del (n.219+488del)
c.325-888del
c.4955del (p.Leu1652ArgfsTer4)
c.4640del (p.Leu1547ArgfsTer4)
c.2537del (p.Leu846ArgfsTer4)
c.4979del (p.Leu1660ArgfsTer4)
c.4970del (p.Leu1657ArgfsTer4)
c.4961del (p.Leu1654ArgfsTer4)
c.3299del (p.Leu1100ArgfsTer4)
Xg.108695409T>ACA414132951COL4A5c.4964T>A (p.Leu1655Gln)
c.4946T>A (p.Leu1649Gln)
n.1458T>A
n.1795T>A
c.219+488T>A (n.219+488T>A)
c.325-888T>A
c.4955T>A (p.Leu1652Gln)
c.4640T>A (p.Leu1547Gln)
c.2537T>A (p.Leu846Gln)
c.4979T>A (p.Leu1660Gln)
c.4970T>A (p.Leu1657Gln)
c.4961T>A (p.Leu1654Gln)
c.3299T>A (p.Leu1100Gln)
Xg.108695409T>CCA414132952COL4A5c.4964T>C (p.Leu1655Pro)
c.4946T>C (p.Leu1649Pro)
n.1458T>C
n.1795T>C
c.219+488T>C (n.219+488T>C)
c.325-888T>C
c.4955T>C (p.Leu1652Pro)
c.4640T>C (p.Leu1547Pro)
c.2537T>C (p.Leu846Pro)
c.4979T>C (p.Leu1660Pro)
c.4970T>C (p.Leu1657Pro)
c.4961T>C (p.Leu1654Pro)
c.3299T>C (p.Leu1100Pro)
Xg.108695409T>GCA340979COL4A5c.4964T>G (p.Leu1655Arg)
c.4946T>G (p.Leu1649Arg)
n.1458T>G
n.1795T>G
c.219+488T>G (n.219+488T>G)
c.325-888T>G
c.4955T>G (p.Leu1652Arg)
c.4640T>G (p.Leu1547Arg)
c.2537T>G (p.Leu846Arg)
c.4979T>G (p.Leu1660Arg)
c.4970T>G (p.Leu1657Arg)
c.4961T>G (p.Leu1654Arg)
c.3299T>G (p.Leu1100Arg)
 ClinVar dbSNP ExAC
Xg.108695409T=CA2450721776COL4A5c.4964T= (p.Leu1655=)
c.4946T= (p.Leu1649=)
n.1458T=
n.1795T=
c.219+488T= (n.219+488T=)
c.325-888T=
c.4955T= (p.Leu1652=)
c.4640T= (p.Leu1547=)
c.2537T= (p.Leu846=)
c.4979T= (p.Leu1660=)
c.4970T= (p.Leu1657=)
c.4961T= (p.Leu1654=)
c.3299T= (p.Leu1100=)
Xg.108695410G>ACA517926147COL4A5c.4965G>A (p.Leu1655=)
c.4947G>A (p.Leu1649=)
n.1459G>A
n.1796G>A
c.219+489G>A (n.219+489G>A)
c.325-887G>A
c.4956G>A (p.Leu1652=)
c.4641G>A (p.Leu1547=)
c.2538G>A (p.Leu846=)
c.4980G>A (p.Leu1660=)
c.4971G>A (p.Leu1657=)
c.4962G>A (p.Leu1654=)
c.3300G>A (p.Leu1100=)
 COSMIC COSMIC
Xg.108695410G>CCA517926148COL4A5c.4965G>C (p.Leu1655=)
c.4947G>C (p.Leu1649=)
n.1459G>C
n.1796G>C
c.219+489G>C (n.219+489G>C)
c.325-887G>C
c.4956G>C (p.Leu1652=)
c.4641G>C (p.Leu1547=)
c.2538G>C (p.Leu846=)
c.4980G>C (p.Leu1660=)
c.4971G>C (p.Leu1657=)
c.4962G>C (p.Leu1654=)
c.3300G>C (p.Leu1100=)
Xg.108695410G>TCA517926149COL4A5c.4965G>T (p.Leu1655=)
c.4947G>T (p.Leu1649=)
n.1459G>T
n.1796G>T
c.219+489G>T (n.219+489G>T)
c.325-887G>T
c.4956G>T (p.Leu1652=)
c.4641G>T (p.Leu1547=)
c.2538G>T (p.Leu846=)
c.4980G>T (p.Leu1660=)
c.4971G>T (p.Leu1657=)
c.4962G>T (p.Leu1654=)
c.3300G>T (p.Leu1100=)
Xg.108695411G>ACA414132953COL4A5c.4966G>A (p.Ala1656Thr)
c.4948G>A (p.Ala1650Thr)
n.1460G>A
n.1797G>A
c.219+490G>A (n.219+490G>A)
c.325-886G>A
c.4957G>A (p.Ala1653Thr)
c.4642G>A (p.Ala1548Thr)
c.2539G>A (p.Ala847Thr)
c.4981G>A (p.Ala1661Thr)
c.4972G>A (p.Ala1658Thr)
c.4963G>A (p.Ala1655Thr)
c.3301G>A (p.Ala1101Thr)
 COSMIC
Xg.108695411G>CCA414132954COL4A5c.4966G>C (p.Ala1656Pro)
c.4948G>C (p.Ala1650Pro)
n.1460G>C
n.1797G>C
c.219+490G>C (n.219+490G>C)
c.325-886G>C
c.4957G>C (p.Ala1653Pro)
c.4642G>C (p.Ala1548Pro)
c.2539G>C (p.Ala847Pro)
c.4981G>C (p.Ala1661Pro)
c.4972G>C (p.Ala1658Pro)
c.4963G>C (p.Ala1655Pro)
c.3301G>C (p.Ala1101Pro)
Xg.108695411G>TCA414132955COL4A5c.4966G>T (p.Ala1656Ser)
c.4948G>T (p.Ala1650Ser)
n.1460G>T
n.1797G>T
c.219+490G>T (n.219+490G>T)
c.325-886G>T
c.4957G>T (p.Ala1653Ser)
c.4642G>T (p.Ala1548Ser)
c.2539G>T (p.Ala847Ser)
c.4981G>T (p.Ala1661Ser)
c.4972G>T (p.Ala1658Ser)
c.4963G>T (p.Ala1655Ser)
c.3301G>T (p.Ala1101Ser)
Xg.108695412C>ACA414132956COL4A5c.4967C>A (p.Ala1656Glu)
c.4949C>A (p.Ala1650Glu)
n.1461C>A
n.1798C>A
c.219+491C>A (n.219+491C>A)
c.325-885C>A
c.4958C>A (p.Ala1653Glu)
c.4643C>A (p.Ala1548Glu)
c.2540C>A (p.Ala847Glu)
c.4982C>A (p.Ala1661Glu)
c.4973C>A (p.Ala1658Glu)
c.4964C>A (p.Ala1655Glu)
c.3302C>A (p.Ala1101Glu)
Xg.108695412C>GCA414132957COL4A5c.4967C>G (p.Ala1656Gly)
c.4949C>G (p.Ala1650Gly)
n.1461C>G
n.1798C>G
c.219+491C>G (n.219+491C>G)
c.325-885C>G
c.4958C>G (p.Ala1653Gly)
c.4643C>G (p.Ala1548Gly)
c.2540C>G (p.Ala847Gly)
c.4982C>G (p.Ala1661Gly)
c.4973C>G (p.Ala1658Gly)
c.4964C>G (p.Ala1655Gly)
c.3302C>G (p.Ala1101Gly)
 COSMIC COSMIC
Xg.108695412C>TCA414132958COL4A5c.4967C>T (p.Ala1656Val)
c.4949C>T (p.Ala1650Val)
n.1461C>T
n.1798C>T
c.219+491C>T (n.219+491C>T)
c.325-885C>T
c.4958C>T (p.Ala1653Val)
c.4643C>T (p.Ala1548Val)
c.2540C>T (p.Ala847Val)
c.4982C>T (p.Ala1661Val)
c.4973C>T (p.Ala1658Val)
c.4964C>T (p.Ala1655Val)
c.3302C>T (p.Ala1101Val)
Xg.108695413A>CCA517926150COL4A5c.4968A>C (p.Ala1656=)
c.4950A>C (p.Ala1650=)
n.1462A>C
n.1799A>C
c.219+492A>C (n.219+492A>C)
c.325-884A>C
c.4959A>C (p.Ala1653=)
c.4644A>C (p.Ala1548=)
c.2541A>C (p.Ala847=)
c.4983A>C (p.Ala1661=)
c.4974A>C (p.Ala1658=)
c.4965A>C (p.Ala1655=)
c.3303A>C (p.Ala1101=)
Xg.108695413A>GCA517926151COL4A5c.4968A>G (p.Ala1656=)
c.4950A>G (p.Ala1650=)
n.1462A>G
n.1799A>G
c.219+492A>G (n.219+492A>G)
c.325-884A>G
c.4959A>G (p.Ala1653=)
c.4644A>G (p.Ala1548=)
c.2541A>G (p.Ala847=)
c.4983A>G (p.Ala1661=)
c.4974A>G (p.Ala1658=)
c.4965A>G (p.Ala1655=)
c.3303A>G (p.Ala1101=)
Xg.108695413A>TCA517926152COL4A5c.4968A>T (p.Ala1656=)
c.4950A>T (p.Ala1650=)
n.1462A>T
n.1799A>T
c.219+492A>T (n.219+492A>T)
c.325-884A>T
c.4959A>T (p.Ala1653=)
c.4644A>T (p.Ala1548=)
c.2541A>T (p.Ala847=)
c.4983A>T (p.Ala1661=)
c.4974A>T (p.Ala1658=)
c.4965A>T (p.Ala1655=)
c.3303A>T (p.Ala1101=)
Xg.108695414A>CCA414132959COL4A5c.4969A>C (p.Thr1657Pro)
c.4951A>C (p.Thr1651Pro)
n.1463A>C
n.1800A>C
c.219+493A>C (n.219+493A>C)
c.325-883A>C
c.4960A>C (p.Thr1654Pro)
c.4645A>C (p.Thr1549Pro)
c.2542A>C (p.Thr848Pro)
c.4984A>C (p.Thr1662Pro)
c.4975A>C (p.Thr1659Pro)
c.4966A>C (p.Thr1656Pro)
c.3304A>C (p.Thr1102Pro)
 COSMIC COSMIC
Xg.108695414A>GCA414132960COL4A5c.4969A>G (p.Thr1657Ala)
c.4951A>G (p.Thr1651Ala)
n.1463A>G
n.1800A>G
c.219+493A>G (n.219+493A>G)
c.325-883A>G
c.4960A>G (p.Thr1654Ala)
c.4645A>G (p.Thr1549Ala)
c.2542A>G (p.Thr848Ala)
c.4984A>G (p.Thr1662Ala)
c.4975A>G (p.Thr1659Ala)
c.4966A>G (p.Thr1656Ala)
c.3304A>G (p.Thr1102Ala)
Xg.108695414A>TCA414132961COL4A5c.4969A>T (p.Thr1657Ser)
c.4951A>T (p.Thr1651Ser)
n.1463A>T
n.1800A>T
c.219+493A>T (n.219+493A>T)
c.325-883A>T
c.4960A>T (p.Thr1654Ser)
c.4645A>T (p.Thr1549Ser)
c.2542A>T (p.Thr848Ser)
c.4984A>T (p.Thr1662Ser)
c.4975A>T (p.Thr1659Ser)
c.4966A>T (p.Thr1656Ser)
c.3304A>T (p.Thr1102Ser)
Xg.108695415C>ACA414132964COL4A5c.4970C>A (p.Thr1657Asn)
c.4952C>A (p.Thr1651Asn)
n.1464C>A
n.1801C>A
c.219+494C>A (n.219+494C>A)
c.325-882C>A
c.4961C>A (p.Thr1654Asn)
c.4646C>A (p.Thr1549Asn)
c.2543C>A (p.Thr848Asn)
c.4985C>A (p.Thr1662Asn)
c.4976C>A (p.Thr1659Asn)
c.4967C>A (p.Thr1656Asn)
c.3305C>A (p.Thr1102Asn)
 ClinVar
Xg.108695415C>GCA414132963COL4A5c.4970C>G (p.Thr1657Ser)
c.4952C>G (p.Thr1651Ser)
n.1464C>G
n.1801C>G
c.219+494C>G (n.219+494C>G)
c.325-882C>G
c.4961C>G (p.Thr1654Ser)
c.4646C>G (p.Thr1549Ser)
c.2543C>G (p.Thr848Ser)
c.4985C>G (p.Thr1662Ser)
c.4976C>G (p.Thr1659Ser)
c.4967C>G (p.Thr1656Ser)
c.3305C>G (p.Thr1102Ser)
Xg.108695415C>TCA414132962COL4A5c.4970C>T (p.Thr1657Ile)
c.4952C>T (p.Thr1651Ile)
n.1464C>T
n.1801C>T
c.219+494C>T (n.219+494C>T)
c.325-882C>T
c.4961C>T (p.Thr1654Ile)
c.4646C>T (p.Thr1549Ile)
c.2543C>T (p.Thr848Ile)
c.4985C>T (p.Thr1662Ile)
c.4976C>T (p.Thr1659Ile)
c.4967C>T (p.Thr1656Ile)
c.3305C>T (p.Thr1102Ile)
Xg.108695416delCA2695235255COL4A5c.4971del (p.Val1658Ter)
c.4953del (p.Val1652Ter)
n.1465del
n.1802del
c.219+495del (n.219+495del)
c.325-881del
c.4962del (p.Val1655Ter)
c.4647del (p.Val1550Ter)
c.2544del (p.Val849Ter)
c.4986del (p.Val1663Ter)
c.4977del (p.Val1660Ter)
c.4968del (p.Val1657Ter)
c.3306del (p.Val1103Ter)
Xg.108695416T>ACA517926153COL4A5c.4971T>A (p.Thr1657=)
c.4953T>A (p.Thr1651=)
n.1465T>A
n.1802T>A
c.219+495T>A (n.219+495T>A)
c.325-881T>A
c.4962T>A (p.Thr1654=)
c.4647T>A (p.Thr1549=)
c.2544T>A (p.Thr848=)
c.4986T>A (p.Thr1662=)
c.4977T>A (p.Thr1659=)
c.4968T>A (p.Thr1656=)
c.3306T>A (p.Thr1102=)
Xg.108695416T>CCA517926154COL4A5c.4971T>C (p.Thr1657=)
c.4953T>C (p.Thr1651=)
n.1465T>C
n.1802T>C
c.219+495T>C (n.219+495T>C)
c.325-881T>C
c.4962T>C (p.Thr1654=)
c.4647T>C (p.Thr1549=)
c.2544T>C (p.Thr848=)
c.4986T>C (p.Thr1662=)
c.4977T>C (p.Thr1659=)
c.4968T>C (p.Thr1656=)
c.3306T>C (p.Thr1102=)
Xg.108695416T>GCA517926155COL4A5c.4971T>G (p.Thr1657=)
c.4953T>G (p.Thr1651=)
n.1465T>G
n.1802T>G
c.219+495T>G (n.219+495T>G)
c.325-881T>G
c.4962T>G (p.Thr1654=)
c.4647T>G (p.Thr1549=)
c.2544T>G (p.Thr848=)
c.4986T>G (p.Thr1662=)
c.4977T>G (p.Thr1659=)
c.4968T>G (p.Thr1656=)
c.3306T>G (p.Thr1102=)
Xg.108695417G>ACA414132965COL4A5c.4972G>A (p.Val1658Ile)
c.4954G>A (p.Val1652Ile)
n.1466G>A
n.1803G>A
c.219+496G>A (n.219+496G>A)
c.325-880G>A
c.4963G>A (p.Val1655Ile)
c.4648G>A (p.Val1550Ile)
c.2545G>A (p.Val849Ile)
c.4987G>A (p.Val1663Ile)
c.4978G>A (p.Val1660Ile)
c.4969G>A (p.Val1657Ile)
c.3307G>A (p.Val1103Ile)
 ClinVar dbSNP gnomAD v4
Xg.108695417G>CCA414132967COL4A5c.4972G>C (p.Val1658Leu)
c.4954G>C (p.Val1652Leu)
n.1466G>C
n.1803G>C
c.219+496G>C (n.219+496G>C)
c.325-880G>C
c.4963G>C (p.Val1655Leu)
c.4648G>C (p.Val1550Leu)
c.2545G>C (p.Val849Leu)
c.4987G>C (p.Val1663Leu)
c.4978G>C (p.Val1660Leu)
c.4969G>C (p.Val1657Leu)
c.3307G>C (p.Val1103Leu)
 ClinVar dbSNP gnomAD v4
Xg.108695417G=CA2450721777COL4A5c.4972G= (p.Val1658=)
c.4954G= (p.Val1652=)
n.1466G=
n.1803G=
c.219+496G= (n.219+496G=)
c.325-880G=
c.4963G= (p.Val1655=)
c.4648G= (p.Val1550=)
c.2545G= (p.Val849=)
c.4987G= (p.Val1663=)
c.4978G= (p.Val1660=)
c.4969G= (p.Val1657=)
c.3307G= (p.Val1103=)
Xg.108695417G>TCA414132966COL4A5c.4972G>T (p.Val1658Leu)
c.4954G>T (p.Val1652Leu)
n.1466G>T
n.1803G>T
c.219+496G>T (n.219+496G>T)
c.325-880G>T
c.4963G>T (p.Val1655Leu)
c.4648G>T (p.Val1550Leu)
c.2545G>T (p.Val849Leu)
c.4987G>T (p.Val1663Leu)
c.4978G>T (p.Val1660Leu)
c.4969G>T (p.Val1657Leu)
c.3307G>T (p.Val1103Leu)
 gnomAD v4
Xg.108695418T>ACA414132968COL4A5c.4973T>A (p.Val1658Glu)
c.4955T>A (p.Val1652Glu)
n.1467T>A
n.1804T>A
c.219+497T>A (n.219+497T>A)
c.325-879T>A
c.4964T>A (p.Val1655Glu)
c.4649T>A (p.Val1550Glu)
c.2546T>A (p.Val849Glu)
c.4988T>A (p.Val1663Glu)
c.4979T>A (p.Val1660Glu)
c.4970T>A (p.Val1657Glu)
c.3308T>A (p.Val1103Glu)
Xg.108695418T>CCA414132970COL4A5c.4973T>C (p.Val1658Ala)
c.4955T>C (p.Val1652Ala)
n.1467T>C
n.1804T>C
c.219+497T>C (n.219+497T>C)
c.325-879T>C
c.4964T>C (p.Val1655Ala)
c.4649T>C (p.Val1550Ala)
c.2546T>C (p.Val849Ala)
c.4988T>C (p.Val1663Ala)
c.4979T>C (p.Val1660Ala)
c.4970T>C (p.Val1657Ala)
c.3308T>C (p.Val1103Ala)
Xg.108695418T>GCA414132969COL4A5c.4973T>G (p.Val1658Gly)
c.4955T>G (p.Val1652Gly)
n.1467T>G
n.1804T>G
c.219+497T>G (n.219+497T>G)
c.325-879T>G
c.4964T>G (p.Val1655Gly)
c.4649T>G (p.Val1550Gly)
c.2546T>G (p.Val849Gly)
c.4988T>G (p.Val1663Gly)
c.4979T>G (p.Val1660Gly)
c.4970T>G (p.Val1657Gly)
c.3308T>G (p.Val1103Gly)
Xg.108695419A>CCA517926156COL4A5c.4974A>C (p.Val1658=)
c.4956A>C (p.Val1652=)
n.1468A>C
n.1805A>C
c.219+498A>C (n.219+498A>C)
c.325-878A>C
c.4965A>C (p.Val1655=)
c.4650A>C (p.Val1550=)
c.2547A>C (p.Val849=)
c.4989A>C (p.Val1663=)
c.4980A>C (p.Val1660=)
c.4971A>C (p.Val1657=)
c.3309A>C (p.Val1103=)
Xg.108695419A>GCA517926157COL4A5c.4974A>G (p.Val1658=)
c.4956A>G (p.Val1652=)
n.1468A>G
n.1805A>G
c.219+498A>G (n.219+498A>G)
c.325-878A>G
c.4965A>G (p.Val1655=)
c.4650A>G (p.Val1550=)
c.2547A>G (p.Val849=)
c.4989A>G (p.Val1663=)
c.4980A>G (p.Val1660=)
c.4971A>G (p.Val1657=)
c.3309A>G (p.Val1103=)
 gnomAD v4
Xg.108695419A>TCA517926158COL4A5c.4974A>T (p.Val1658=)
c.4956A>T (p.Val1652=)
n.1468A>T
n.1805A>T
c.219+498A>T (n.219+498A>T)
c.325-878A>T
c.4965A>T (p.Val1655=)
c.4650A>T (p.Val1550=)
c.2547A>T (p.Val849=)
c.4989A>T (p.Val1663=)
c.4980A>T (p.Val1660=)
c.4971A>T (p.Val1657=)
c.3309A>T (p.Val1103=)
Xg.108695420G>ACA414132971COL4A5c.4975G>A (p.Asp1659Asn)
c.4957G>A (p.Asp1653Asn)
n.1469G>A
n.1806G>A
c.219+499G>A (n.219+499G>A)
c.325-877G>A
c.4966G>A (p.Asp1656Asn)
c.4651G>A (p.Asp1551Asn)
c.2548G>A (p.Asp850Asn)
c.4990G>A (p.Asp1664Asn)
c.4981G>A (p.Asp1661Asn)
c.4972G>A (p.Asp1658Asn)
c.3310G>A (p.Asp1104Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695420G>CCA10489445COL4A5c.4975G>C (p.Asp1659His)
c.4957G>C (p.Asp1653His)
n.1469G>C
n.1806G>C
c.219+499G>C (n.219+499G>C)
c.325-877G>C
c.4966G>C (p.Asp1656His)
c.4651G>C (p.Asp1551His)
c.2548G>C (p.Asp850His)
c.4990G>C (p.Asp1664His)
c.4981G>C (p.Asp1661His)
c.4972G>C (p.Asp1658His)
c.3310G>C (p.Asp1104His)
 dbSNP ExAC gnomAD v2
Xg.108695420G=CA2450721778COL4A5c.4975G= (p.Asp1659=)
c.4957G= (p.Asp1653=)
n.1469G=
n.1806G=
c.219+499G= (n.219+499G=)
c.325-877G=
c.4966G= (p.Asp1656=)
c.4651G= (p.Asp1551=)
c.2548G= (p.Asp850=)
c.4990G= (p.Asp1664=)
c.4981G= (p.Asp1661=)
c.4972G= (p.Asp1658=)
c.3310G= (p.Asp1104=)
Xg.108695420G>TCA414132972COL4A5c.4975G>T (p.Asp1659Tyr)
c.4957G>T (p.Asp1653Tyr)
n.1469G>T
n.1806G>T
c.219+499G>T (n.219+499G>T)
c.325-877G>T
c.4966G>T (p.Asp1656Tyr)
c.4651G>T (p.Asp1551Tyr)
c.2548G>T (p.Asp850Tyr)
c.4990G>T (p.Asp1664Tyr)
c.4981G>T (p.Asp1661Tyr)
c.4972G>T (p.Asp1658Tyr)
c.3310G>T (p.Asp1104Tyr)
 ClinVar gnomAD v4
Xg.108695421A>CCA414132973COL4A5c.4976A>C (p.Asp1659Ala)
c.4958A>C (p.Asp1653Ala)
n.1470A>C
n.1807A>C
c.219+500A>C (n.219+500A>C)
c.325-876A>C
c.4967A>C (p.Asp1656Ala)
c.4652A>C (p.Asp1551Ala)
c.2549A>C (p.Asp850Ala)
c.4991A>C (p.Asp1664Ala)
c.4982A>C (p.Asp1661Ala)
c.4973A>C (p.Asp1658Ala)
c.3311A>C (p.Asp1104Ala)
Xg.108695421A>GCA414132974COL4A5c.4976A>G (p.Asp1659Gly)
c.4958A>G (p.Asp1653Gly)
n.1470A>G
n.1807A>G
c.219+500A>G (n.219+500A>G)
c.325-876A>G
c.4967A>G (p.Asp1656Gly)
c.4652A>G (p.Asp1551Gly)
c.2549A>G (p.Asp850Gly)
c.4991A>G (p.Asp1664Gly)
c.4982A>G (p.Asp1661Gly)
c.4973A>G (p.Asp1658Gly)
c.3311A>G (p.Asp1104Gly)
Xg.108695421A>TCA414132975COL4A5c.4976A>T (p.Asp1659Val)
c.4958A>T (p.Asp1653Val)
n.1470A>T
n.1807A>T
c.219+500A>T (n.219+500A>T)
c.325-876A>T
c.4967A>T (p.Asp1656Val)
c.4652A>T (p.Asp1551Val)
c.2549A>T (p.Asp850Val)
c.4991A>T (p.Asp1664Val)
c.4982A>T (p.Asp1661Val)
c.4973A>T (p.Asp1658Val)
c.3311A>T (p.Asp1104Val)
Xg.108695422T>ACA10489446COL4A5c.4977T>A (p.Asp1659Glu)
c.4959T>A (p.Asp1653Glu)
n.1471T>A
n.1808T>A
c.219+501T>A (n.219+501T>A)
c.325-875T>A
c.4968T>A (p.Asp1656Glu)
c.4653T>A (p.Asp1551Glu)
c.2550T>A (p.Asp850Glu)
c.4992T>A (p.Asp1664Glu)
c.4983T>A (p.Asp1661Glu)
c.4974T>A (p.Asp1658Glu)
c.3312T>A (p.Asp1104Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108695422T>CCA517926159COL4A5c.4977T>C (p.Asp1659=)
c.4959T>C (p.Asp1653=)
n.1471T>C
n.1808T>C
c.219+501T>C (n.219+501T>C)
c.325-875T>C
c.4968T>C (p.Asp1656=)
c.4653T>C (p.Asp1551=)
c.2550T>C (p.Asp850=)
c.4992T>C (p.Asp1664=)
c.4983T>C (p.Asp1661=)
c.4974T>C (p.Asp1658=)
c.3312T>C (p.Asp1104=)
Xg.108695422T>GCA414132976COL4A5c.4977T>G (p.Asp1659Glu)
c.4959T>G (p.Asp1653Glu)
n.1471T>G
n.1808T>G
c.219+501T>G (n.219+501T>G)
c.325-875T>G
c.4968T>G (p.Asp1656Glu)
c.4653T>G (p.Asp1551Glu)
c.2550T>G (p.Asp850Glu)
c.4992T>G (p.Asp1664Glu)
c.4983T>G (p.Asp1661Glu)
c.4974T>G (p.Asp1658Glu)
c.3312T>G (p.Asp1104Glu)
Xg.108695422T=CA2450721779COL4A5c.4977T= (p.Asp1659=)
c.4959T= (p.Asp1653=)
n.1471T=
n.1808T=
c.219+501T= (n.219+501T=)
c.325-875T=
c.4968T= (p.Asp1656=)
c.4653T= (p.Asp1551=)
c.2550T= (p.Asp850=)
c.4992T= (p.Asp1664=)
c.4983T= (p.Asp1661=)
c.4974T= (p.Asp1658=)
c.3312T= (p.Asp1104=)
Xg.108695423G>ACA414132977COL4A5c.4978G>A (p.Val1660Met)
c.4960G>A (p.Val1654Met)
n.1472G>A
n.1809G>A
c.219+502G>A (n.219+502G>A)
c.325-874G>A
c.4969G>A (p.Val1657Met)
c.4654G>A (p.Val1552Met)
c.2551G>A (p.Val851Met)
c.4993G>A (p.Val1665Met)
c.4984G>A (p.Val1662Met)
c.4975G>A (p.Val1659Met)
c.3313G>A (p.Val1105Met)
Xg.108695423G>CCA414132978COL4A5c.4978G>C (p.Val1660Leu)
c.4960G>C (p.Val1654Leu)
n.1472G>C
n.1809G>C
c.219+502G>C (n.219+502G>C)
c.325-874G>C
c.4969G>C (p.Val1657Leu)
c.4654G>C (p.Val1552Leu)
c.2551G>C (p.Val851Leu)
c.4993G>C (p.Val1665Leu)
c.4984G>C (p.Val1662Leu)
c.4975G>C (p.Val1659Leu)
c.3313G>C (p.Val1105Leu)
Xg.108695423G>TCA414132979COL4A5c.4978G>T (p.Val1660Leu)
c.4960G>T (p.Val1654Leu)
n.1472G>T
n.1809G>T
c.219+502G>T (n.219+502G>T)
c.325-874G>T
c.4969G>T (p.Val1657Leu)
c.4654G>T (p.Val1552Leu)
c.2551G>T (p.Val851Leu)
c.4993G>T (p.Val1665Leu)
c.4984G>T (p.Val1662Leu)
c.4975G>T (p.Val1659Leu)
c.3313G>T (p.Val1105Leu)
Xg.108695423_108695424insAAAACA2499226313COL4A5c.4978_4979insAAAA (p.Val1660GlufsTer8)
c.4960_4961insAAAA (p.Val1654GlufsTer8)
n.1472_1473insAAAA
n.1809_1810insAAAA
c.219+502_219+503insAAAA (n.219+502_219+503insAAAA)
c.325-874_325-873insAAAA
c.4969_4970insAAAA (p.Val1657GlufsTer8)
c.4654_4655insAAAA (p.Val1552GlufsTer8)
c.2551_2552insAAAA (p.Val851GlufsTer8)
c.4993_4994insAAAA (p.Val1665GlufsTer8)
c.4984_4985insAAAA (p.Val1662GlufsTer8)
c.4975_4976insAAAA (p.Val1659GlufsTer8)
c.3313_3314insAAAA (p.Val1105GlufsTer8)
 ClinVar dbSNP
Xg.108695424T>ACA414132980COL4A5c.4979T>A (p.Val1660Glu)
c.4961T>A (p.Val1654Glu)
n.1473T>A
n.1810T>A
c.219+503T>A (n.219+503T>A)
c.325-873T>A
c.4970T>A (p.Val1657Glu)
c.4655T>A (p.Val1552Glu)
c.2552T>A (p.Val851Glu)
c.4994T>A (p.Val1665Glu)
c.4985T>A (p.Val1662Glu)
c.4976T>A (p.Val1659Glu)
c.3314T>A (p.Val1105Glu)
Xg.108695424T>CCA10489447COL4A5c.4979T>C (p.Val1660Ala)
c.4961T>C (p.Val1654Ala)
n.1473T>C
n.1810T>C
c.219+503T>C (n.219+503T>C)
c.325-873T>C
c.4970T>C (p.Val1657Ala)
c.4655T>C (p.Val1552Ala)
c.2552T>C (p.Val851Ala)
c.4994T>C (p.Val1665Ala)
c.4985T>C (p.Val1662Ala)
c.4976T>C (p.Val1659Ala)
c.3314T>C (p.Val1105Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108695424T>GCA414132981COL4A5c.4979T>G (p.Val1660Gly)
c.4961T>G (p.Val1654Gly)
n.1473T>G
n.1810T>G
c.219+503T>G (n.219+503T>G)
c.325-873T>G
c.4970T>G (p.Val1657Gly)
c.4655T>G (p.Val1552Gly)
c.2552T>G (p.Val851Gly)
c.4994T>G (p.Val1665Gly)
c.4985T>G (p.Val1662Gly)
c.4976T>G (p.Val1659Gly)
c.3314T>G (p.Val1105Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.108695424T=CA2450721780COL4A5c.4979T= (p.Val1660=)
c.4961T= (p.Val1654=)
n.1473T=
n.1810T=
c.219+503T= (n.219+503T=)
c.325-873T=
c.4970T= (p.Val1657=)
c.4655T= (p.Val1552=)
c.2552T= (p.Val851=)
c.4994T= (p.Val1665=)
c.4985T= (p.Val1662=)
c.4976T= (p.Val1659=)
c.3314T= (p.Val1105=)
Xg.108695425delCA2695235256COL4A5c.4980del (p.Ser1661GlnfsTer12)
c.4962del (p.Ser1655GlnfsTer12)
n.1474del
n.1811del
c.219+504del (n.219+504del)
c.325-872del
c.4971del (p.Ser1658GlnfsTer12)
c.4656del (p.Ser1553GlnfsTer12)
c.2553del (p.Ser852GlnfsTer12)
c.4995del (p.Ser1666GlnfsTer12)
c.4986del (p.Ser1663GlnfsTer12)
c.4977del (p.Ser1660GlnfsTer12)
c.3315del (p.Ser1106GlnfsTer12)
Xg.108695425G>ACA517926161COL4A5c.4980G>A (p.Val1660=)
c.4962G>A (p.Val1654=)
n.1474G>A
n.1811G>A
c.219+504G>A (n.219+504G>A)
c.325-872G>A
c.4971G>A (p.Val1657=)
c.4656G>A (p.Val1552=)
c.2553G>A (p.Val851=)
c.4995G>A (p.Val1665=)
c.4986G>A (p.Val1662=)
c.4977G>A (p.Val1659=)
c.3315G>A (p.Val1105=)
Xg.108695425G>CCA517926162COL4A5c.4980G>C (p.Val1660=)
c.4962G>C (p.Val1654=)
n.1474G>C
n.1811G>C
c.219+504G>C (n.219+504G>C)
c.325-872G>C
c.4971G>C (p.Val1657=)
c.4656G>C (p.Val1552=)
c.2553G>C (p.Val851=)
c.4995G>C (p.Val1665=)
c.4986G>C (p.Val1662=)
c.4977G>C (p.Val1659=)
c.3315G>C (p.Val1105=)
 gnomAD v4
Xg.108695425G>TCA517926163COL4A5c.4980G>T (p.Val1660=)
c.4962G>T (p.Val1654=)
n.1474G>T
n.1811G>T
c.219+504G>T (n.219+504G>T)
c.325-872G>T
c.4971G>T (p.Val1657=)
c.4656G>T (p.Val1552=)
c.2553G>T (p.Val851=)
c.4995G>T (p.Val1665=)
c.4986G>T (p.Val1662=)
c.4977G>T (p.Val1659=)
c.3315G>T (p.Val1105=)
Xg.108695426T>ACA414132984COL4A5c.4981T>A (p.Ser1661Thr)
c.4963T>A (p.Ser1655Thr)
n.1475T>A
n.1812T>A
c.219+505T>A (n.219+505T>A)
c.325-871T>A
c.4972T>A (p.Ser1658Thr)
c.4657T>A (p.Ser1553Thr)
c.2554T>A (p.Ser852Thr)
c.4996T>A (p.Ser1666Thr)
c.4987T>A (p.Ser1663Thr)
c.4978T>A (p.Ser1660Thr)
c.3316T>A (p.Ser1106Thr)
Xg.108695426T>CCA414132982COL4A5c.4981T>C (p.Ser1661Pro)
c.4963T>C (p.Ser1655Pro)
n.1475T>C
n.1812T>C
c.219+505T>C (n.219+505T>C)
c.325-871T>C
c.4972T>C (p.Ser1658Pro)
c.4657T>C (p.Ser1553Pro)
c.2554T>C (p.Ser852Pro)
c.4996T>C (p.Ser1666Pro)
c.4987T>C (p.Ser1663Pro)
c.4978T>C (p.Ser1660Pro)
c.3316T>C (p.Ser1106Pro)
 dbSNP
Xg.108695426T>GCA414132983COL4A5c.4981T>G (p.Ser1661Ala)
c.4963T>G (p.Ser1655Ala)
n.1475T>G
n.1812T>G
c.219+505T>G (n.219+505T>G)
c.325-871T>G
c.4972T>G (p.Ser1658Ala)
c.4657T>G (p.Ser1553Ala)
c.2554T>G (p.Ser852Ala)
c.4996T>G (p.Ser1666Ala)
c.4987T>G (p.Ser1663Ala)
c.4978T>G (p.Ser1660Ala)
c.3316T>G (p.Ser1106Ala)
Xg.108695426T=CA2450721781COL4A5c.4981T= (p.Ser1661=)
c.4963T= (p.Ser1655=)
n.1475T=
n.1812T=
c.219+505T= (n.219+505T=)
c.325-871T=
c.4972T= (p.Ser1658=)
c.4657T= (p.Ser1553=)
c.2554T= (p.Ser852=)
c.4996T= (p.Ser1666=)
c.4987T= (p.Ser1663=)
c.4978T= (p.Ser1660=)
c.3316T= (p.Ser1106=)
Xg.108695427C>ACA414132985COL4A5c.4982C>A (p.Ser1661Ter)
c.4964C>A (p.Ser1655Ter)
n.1476C>A
n.1813C>A
c.219+506C>A (n.219+506C>A)
c.325-870C>A
c.4973C>A (p.Ser1658Ter)
c.4658C>A (p.Ser1553Ter)
c.2555C>A (p.Ser852Ter)
c.4997C>A (p.Ser1666Ter)
c.4988C>A (p.Ser1663Ter)
c.4979C>A (p.Ser1660Ter)
c.3317C>A (p.Ser1106Ter)
Xg.108695427C>GCA414132986COL4A5c.4982C>G (p.Ser1661Ter)
c.4964C>G (p.Ser1655Ter)
n.1476C>G
n.1813C>G
c.219+506C>G (n.219+506C>G)
c.325-870C>G
c.4973C>G (p.Ser1658Ter)
c.4658C>G (p.Ser1553Ter)
c.2555C>G (p.Ser852Ter)
c.4997C>G (p.Ser1666Ter)
c.4988C>G (p.Ser1663Ter)
c.4979C>G (p.Ser1660Ter)
c.3317C>G (p.Ser1106Ter)
Xg.108695427C>TCA414132987COL4A5c.4982C>T (p.Ser1661Leu)
c.4964C>T (p.Ser1655Leu)
n.1476C>T
n.1813C>T
c.219+506C>T (n.219+506C>T)
c.325-870C>T
c.4973C>T (p.Ser1658Leu)
c.4658C>T (p.Ser1553Leu)
c.2555C>T (p.Ser852Leu)
c.4997C>T (p.Ser1666Leu)
c.4988C>T (p.Ser1663Leu)
c.4979C>T (p.Ser1660Leu)
c.3317C>T (p.Ser1106Leu)
Xg.108695428A>CCA517926165COL4A5c.4983A>C (p.Ser1661=)
c.4965A>C (p.Ser1655=)
n.1477A>C
n.1814A>C
c.219+507A>C (n.219+507A>C)
c.325-869A>C
c.4974A>C (p.Ser1658=)
c.4659A>C (p.Ser1553=)
c.2556A>C (p.Ser852=)
c.4998A>C (p.Ser1666=)
c.4989A>C (p.Ser1663=)
c.4980A>C (p.Ser1660=)
c.3318A>C (p.Ser1106=)
 gnomAD v4
Xg.108695428A>GCA517926166COL4A5c.4983A>G (p.Ser1661=)
c.4965A>G (p.Ser1655=)
n.1477A>G
n.1814A>G
c.219+507A>G (n.219+507A>G)
c.325-869A>G
c.4974A>G (p.Ser1658=)
c.4659A>G (p.Ser1553=)
c.2556A>G (p.Ser852=)
c.4998A>G (p.Ser1666=)
c.4989A>G (p.Ser1663=)
c.4980A>G (p.Ser1660=)
c.3318A>G (p.Ser1106=)
Xg.108695428A>TCA517926167COL4A5c.4983A>T (p.Ser1661=)
c.4965A>T (p.Ser1655=)
n.1477A>T
n.1814A>T
c.219+507A>T (n.219+507A>T)
c.325-869A>T
c.4974A>T (p.Ser1658=)
c.4659A>T (p.Ser1553=)
c.2556A>T (p.Ser852=)
c.4998A>T (p.Ser1666=)
c.4989A>T (p.Ser1663=)
c.4980A>T (p.Ser1660=)
c.3318A>T (p.Ser1106=)
Xg.108695429G>ACA414132988COL4A5c.4984G>A (p.Asp1662Asn)
c.4966G>A (p.Asp1656Asn)
n.1478G>A
n.1815G>A
c.219+508G>A (n.219+508G>A)
c.325-868G>A
c.4975G>A (p.Asp1659Asn)
c.4660G>A (p.Asp1554Asn)
c.2557G>A (p.Asp853Asn)
c.4999G>A (p.Asp1667Asn)
c.4990G>A (p.Asp1664Asn)
c.4981G>A (p.Asp1661Asn)
c.3319G>A (p.Asp1107Asn)
Xg.108695429G>CCA414132989COL4A5c.4984G>C (p.Asp1662His)
c.4966G>C (p.Asp1656His)
n.1478G>C
n.1815G>C
c.219+508G>C (n.219+508G>C)
c.325-868G>C
c.4975G>C (p.Asp1659His)
c.4660G>C (p.Asp1554His)
c.2557G>C (p.Asp853His)
c.4999G>C (p.Asp1667His)
c.4990G>C (p.Asp1664His)
c.4981G>C (p.Asp1661His)
c.3319G>C (p.Asp1107His)
Xg.108695429G>TCA414132990COL4A5c.4984G>T (p.Asp1662Tyr)
c.4966G>T (p.Asp1656Tyr)
n.1478G>T
n.1815G>T
c.219+508G>T (n.219+508G>T)
c.325-868G>T
c.4975G>T (p.Asp1659Tyr)
c.4660G>T (p.Asp1554Tyr)
c.2557G>T (p.Asp853Tyr)
c.4999G>T (p.Asp1667Tyr)
c.4990G>T (p.Asp1664Tyr)
c.4981G>T (p.Asp1661Tyr)
c.3319G>T (p.Asp1107Tyr)
 COSMIC COSMIC
Xg.108695430A>CCA414132991COL4A5c.4985A>C (p.Asp1662Ala)
c.4967A>C (p.Asp1656Ala)
n.1479A>C
n.1816A>C
c.219+509A>C (n.219+509A>C)
c.325-867A>C
c.4976A>C (p.Asp1659Ala)
c.4661A>C (p.Asp1554Ala)
c.2558A>C (p.Asp853Ala)
c.5000A>C (p.Asp1667Ala)
c.4991A>C (p.Asp1664Ala)
c.4982A>C (p.Asp1661Ala)
c.3320A>C (p.Asp1107Ala)
Xg.108695430A>GCA414132992COL4A5c.4985A>G (p.Asp1662Gly)
c.4967A>G (p.Asp1656Gly)
n.1479A>G
n.1816A>G
c.219+509A>G (n.219+509A>G)
c.325-867A>G
c.4976A>G (p.Asp1659Gly)
c.4661A>G (p.Asp1554Gly)
c.2558A>G (p.Asp853Gly)
c.5000A>G (p.Asp1667Gly)
c.4991A>G (p.Asp1664Gly)
c.4982A>G (p.Asp1661Gly)
c.3320A>G (p.Asp1107Gly)
Xg.108695430A>TCA414132993COL4A5c.4985A>T (p.Asp1662Val)
c.4967A>T (p.Asp1656Val)
n.1479A>T
n.1816A>T
c.219+509A>T (n.219+509A>T)
c.325-867A>T
c.4976A>T (p.Asp1659Val)
c.4661A>T (p.Asp1554Val)
c.2558A>T (p.Asp853Val)
c.5000A>T (p.Asp1667Val)
c.4991A>T (p.Asp1664Val)
c.4982A>T (p.Asp1661Val)
c.3320A>T (p.Asp1107Val)
Xg.108695430_108695431delinsACCA2450721782COL4A5c.4985_4986delinsAC (p.Asp1662=)
c.4967_4968delinsAC (p.Asp1656=)
n.1479_1480delinsAC
n.1816_1817delinsAC
c.219+509_219+510delinsAC (n.219+509_219+510delinsAC)
c.325-867_325-866delinsAC
c.4976_4977delinsAC (p.Asp1659=)
c.4661_4662delinsAC (p.Asp1554=)
c.2558_2559delinsAC (p.Asp853=)
c.5000_5001delinsAC (p.Asp1667=)
c.4991_4992delinsAC (p.Asp1664=)
c.4982_4983delinsAC (p.Asp1661=)
c.3320_3321delinsAC (p.Asp1107=)
Xg.108695431delCA259137COL4A5c.4986del (p.Asp1662GlufsTer11)
c.4968del (p.Asp1656GlufsTer11)
n.1480del
n.1817del
c.219+510del (n.219+510del)
c.325-866del
c.4977del (p.Asp1659GlufsTer11)
c.4662del (p.Asp1554GlufsTer11)
c.2559del (p.Asp853GlufsTer11)
c.5001del (p.Asp1667GlufsTer11)
c.4992del (p.Asp1664GlufsTer11)
c.4983del (p.Asp1661GlufsTer11)
c.3321del (p.Asp1107GlufsTer11)
 dbSNP
Xg.108695431C>ACA414132994COL4A5c.4986C>A (p.Asp1662Glu)
c.4968C>A (p.Asp1656Glu)
n.1480C>A
n.1817C>A
c.219+510C>A (n.219+510C>A)
c.325-866C>A
c.4977C>A (p.Asp1659Glu)
c.4662C>A (p.Asp1554Glu)
c.2559C>A (p.Asp853Glu)
c.5001C>A (p.Asp1667Glu)
c.4992C>A (p.Asp1664Glu)
c.4983C>A (p.Asp1661Glu)
c.3321C>A (p.Asp1107Glu)
Xg.108695431C=CA2580701033COL4A5c.4986C= (p.Asp1662=)
c.4968C= (p.Asp1656=)
n.1480C=
n.1817C=
c.219+510C= (n.219+510C=)
c.325-866C=
c.4977C= (p.Asp1659=)
c.4662C= (p.Asp1554=)
c.2559C= (p.Asp853=)
c.5001C= (p.Asp1667=)
c.4992C= (p.Asp1664=)
c.4983C= (p.Asp1661=)
c.3321C= (p.Asp1107=)
Xg.108695431C>GCA414132995COL4A5c.4986C>G (p.Asp1662Glu)
c.4968C>G (p.Asp1656Glu)
n.1480C>G
n.1817C>G
c.219+510C>G (n.219+510C>G)
c.325-866C>G
c.4977C>G (p.Asp1659Glu)
c.4662C>G (p.Asp1554Glu)
c.2559C>G (p.Asp853Glu)
c.5001C>G (p.Asp1667Glu)
c.4992C>G (p.Asp1664Glu)
c.4983C>G (p.Asp1661Glu)
c.3321C>G (p.Asp1107Glu)
Xg.108695431C>TCA517926169COL4A5c.4986C>T (p.Asp1662=)
c.4968C>T (p.Asp1656=)
n.1480C>T
n.1817C>T
c.219+510C>T (n.219+510C>T)
c.325-866C>T
c.4977C>T (p.Asp1659=)
c.4662C>T (p.Asp1554=)
c.2559C>T (p.Asp853=)
c.5001C>T (p.Asp1667=)
c.4992C>T (p.Asp1664=)
c.4983C>T (p.Asp1661=)
c.3321C>T (p.Asp1107=)
Xg.108695432A=CA2450721783COL4A5c.4987A= (p.Met1663=)
c.4969A= (p.Met1657=)
n.1481A=
n.1818A=
c.219+511A= (n.219+511A=)
c.325-865A=
c.4978A= (p.Met1660=)
c.4663A= (p.Met1555=)
c.2560A= (p.Met854=)
c.5002A= (p.Met1668=)
c.4993A= (p.Met1665=)
c.4984A= (p.Met1662=)
c.3322A= (p.Met1108=)
Xg.108695432A>CCA414132996COL4A5c.4987A>C (p.Met1663Leu)
c.4969A>C (p.Met1657Leu)
n.1481A>C
n.1818A>C
c.219+511A>C (n.219+511A>C)
c.325-865A>C
c.4978A>C (p.Met1660Leu)
c.4663A>C (p.Met1555Leu)
c.2560A>C (p.Met854Leu)
c.5002A>C (p.Met1668Leu)
c.4993A>C (p.Met1665Leu)
c.4984A>C (p.Met1662Leu)
c.3322A>C (p.Met1108Leu)
Xg.108695432A>GCA414132998COL4A5c.4987A>G (p.Met1663Val)
c.4969A>G (p.Met1657Val)
n.1481A>G
n.1818A>G
c.219+511A>G (n.219+511A>G)
c.325-865A>G
c.4978A>G (p.Met1660Val)
c.4663A>G (p.Met1555Val)
c.2560A>G (p.Met854Val)
c.5002A>G (p.Met1668Val)
c.4993A>G (p.Met1665Val)
c.4984A>G (p.Met1662Val)
c.3322A>G (p.Met1108Val)
 ClinVar dbSNP
Xg.108695432A>TCA414132997COL4A5c.4987A>T (p.Met1663Leu)
c.4969A>T (p.Met1657Leu)
n.1481A>T
n.1818A>T
c.219+511A>T (n.219+511A>T)
c.325-865A>T
c.4978A>T (p.Met1660Leu)
c.4663A>T (p.Met1555Leu)
c.2560A>T (p.Met854Leu)
c.5002A>T (p.Met1668Leu)
c.4993A>T (p.Met1665Leu)
c.4984A>T (p.Met1662Leu)
c.3322A>T (p.Met1108Leu)
Xg.108695433T>ACA414132999COL4A5c.4988T>A (p.Met1663Lys)
c.4970T>A (p.Met1657Lys)
n.1482T>A
n.1819T>A
c.219+512T>A (n.219+512T>A)
c.325-864T>A
c.4979T>A (p.Met1660Lys)
c.4664T>A (p.Met1555Lys)
c.2561T>A (p.Met854Lys)
c.5003T>A (p.Met1668Lys)
c.4994T>A (p.Met1665Lys)
c.4985T>A (p.Met1662Lys)
c.3323T>A (p.Met1108Lys)
Xg.108695433T>CCA414133000COL4A5c.4988T>C (p.Met1663Thr)
c.4970T>C (p.Met1657Thr)
n.1482T>C
n.1819T>C
c.219+512T>C (n.219+512T>C)
c.325-864T>C
c.4979T>C (p.Met1660Thr)
c.4664T>C (p.Met1555Thr)
c.2561T>C (p.Met854Thr)
c.5003T>C (p.Met1668Thr)
c.4994T>C (p.Met1665Thr)
c.4985T>C (p.Met1662Thr)
c.3323T>C (p.Met1108Thr)
Xg.108695433T>GCA414133001COL4A5c.4988T>G (p.Met1663Arg)
c.4970T>G (p.Met1657Arg)
n.1482T>G
n.1819T>G
c.219+512T>G (n.219+512T>G)
c.325-864T>G
c.4979T>G (p.Met1660Arg)
c.4664T>G (p.Met1555Arg)
c.2561T>G (p.Met854Arg)
c.5003T>G (p.Met1668Arg)
c.4994T>G (p.Met1665Arg)
c.4985T>G (p.Met1662Arg)
c.3323T>G (p.Met1108Arg)
Xg.108695434G>ACA414133002COL4A5c.4989G>A (p.Met1663Ile)
c.4971G>A (p.Met1657Ile)
n.1483G>A
n.1820G>A
c.219+513G>A (n.219+513G>A)
c.325-863G>A
c.4980G>A (p.Met1660Ile)
c.4665G>A (p.Met1555Ile)
c.2562G>A (p.Met854Ile)
c.5004G>A (p.Met1668Ile)
c.4995G>A (p.Met1665Ile)
c.4986G>A (p.Met1662Ile)
c.3324G>A (p.Met1108Ile)
Xg.108695434G>CCA414133003COL4A5c.4989G>C (p.Met1663Ile)
c.4971G>C (p.Met1657Ile)
n.1483G>C
n.1820G>C
c.219+513G>C (n.219+513G>C)
c.325-863G>C
c.4980G>C (p.Met1660Ile)
c.4665G>C (p.Met1555Ile)
c.2562G>C (p.Met854Ile)
c.5004G>C (p.Met1668Ile)
c.4995G>C (p.Met1665Ile)
c.4986G>C (p.Met1662Ile)
c.3324G>C (p.Met1108Ile)
Xg.108695434G>TCA414133004COL4A5c.4989G>T (p.Met1663Ile)
c.4971G>T (p.Met1657Ile)
n.1483G>T
n.1820G>T
c.219+513G>T (n.219+513G>T)
c.325-863G>T
c.4980G>T (p.Met1660Ile)
c.4665G>T (p.Met1555Ile)
c.2562G>T (p.Met854Ile)
c.5004G>T (p.Met1668Ile)
c.4995G>T (p.Met1665Ile)
c.4986G>T (p.Met1662Ile)
c.3324G>T (p.Met1108Ile)
Xg.108695435T>ACA414133005COL4A5c.4990T>A (p.Phe1664Ile)
c.4972T>A (p.Phe1658Ile)
n.1484T>A
n.1821T>A
c.219+514T>A (n.219+514T>A)
c.325-862T>A
c.4981T>A (p.Phe1661Ile)
c.4666T>A (p.Phe1556Ile)
c.2563T>A (p.Phe855Ile)
c.5005T>A (p.Phe1669Ile)
c.4996T>A (p.Phe1666Ile)
c.4987T>A (p.Phe1663Ile)
c.3325T>A (p.Phe1109Ile)
Xg.108695435T>CCA334063444COL4A5c.4990T>C (p.Phe1664Leu)
c.4972T>C (p.Phe1658Leu)
n.1484T>C
n.1821T>C
c.219+514T>C (n.219+514T>C)
c.325-862T>C
c.4981T>C (p.Phe1661Leu)
c.4666T>C (p.Phe1556Leu)
c.2563T>C (p.Phe855Leu)
c.5005T>C (p.Phe1669Leu)
c.4996T>C (p.Phe1666Leu)
c.4987T>C (p.Phe1663Leu)
c.3325T>C (p.Phe1109Leu)
 dbSNP
Xg.108695435T>GCA414133006COL4A5c.4990T>G (p.Phe1664Val)
c.4972T>G (p.Phe1658Val)
n.1484T>G
n.1821T>G
c.219+514T>G (n.219+514T>G)
c.325-862T>G
c.4981T>G (p.Phe1661Val)
c.4666T>G (p.Phe1556Val)
c.2563T>G (p.Phe855Val)
c.5005T>G (p.Phe1669Val)
c.4996T>G (p.Phe1666Val)
c.4987T>G (p.Phe1663Val)
c.3325T>G (p.Phe1109Val)
Xg.108695435T=CA2450721784COL4A5c.4990T= (p.Phe1664=)
c.4972T= (p.Phe1658=)
n.1484T=
n.1821T=
c.219+514T= (n.219+514T=)
c.325-862T=
c.4981T= (p.Phe1661=)
c.4666T= (p.Phe1556=)
c.2563T= (p.Phe855=)
c.5005T= (p.Phe1669=)
c.4996T= (p.Phe1666=)
c.4987T= (p.Phe1663=)
c.3325T= (p.Phe1109=)
Xg.108695436T>ACA414133007COL4A5c.4991T>A (p.Phe1664Tyr)
c.4973T>A (p.Phe1658Tyr)
n.1485T>A
n.1822T>A
c.219+515T>A (n.219+515T>A)
c.325-861T>A
c.4982T>A (p.Phe1661Tyr)
c.4667T>A (p.Phe1556Tyr)
c.2564T>A (p.Phe855Tyr)
c.5006T>A (p.Phe1669Tyr)
c.4997T>A (p.Phe1666Tyr)
c.4988T>A (p.Phe1663Tyr)
c.3326T>A (p.Phe1109Tyr)
Xg.108695436T>CCA414133008COL4A5c.4991T>C (p.Phe1664Ser)
c.4973T>C (p.Phe1658Ser)
n.1485T>C
n.1822T>C
c.219+515T>C (n.219+515T>C)
c.325-861T>C
c.4982T>C (p.Phe1661Ser)
c.4667T>C (p.Phe1556Ser)
c.2564T>C (p.Phe855Ser)
c.5006T>C (p.Phe1669Ser)
c.4997T>C (p.Phe1666Ser)
c.4988T>C (p.Phe1663Ser)
c.3326T>C (p.Phe1109Ser)
 gnomAD v4
Xg.108695436T>GCA414133009COL4A5c.4991T>G (p.Phe1664Cys)
c.4973T>G (p.Phe1658Cys)
n.1485T>G
n.1822T>G
c.219+515T>G (n.219+515T>G)
c.325-861T>G
c.4982T>G (p.Phe1661Cys)
c.4667T>G (p.Phe1556Cys)
c.2564T>G (p.Phe855Cys)
c.5006T>G (p.Phe1669Cys)
c.4997T>G (p.Phe1666Cys)
c.4988T>G (p.Phe1663Cys)
c.3326T>G (p.Phe1109Cys)
Xg.108695437C>ACA414133011COL4A5c.4992C>A (p.Phe1664Leu)
c.4974C>A (p.Phe1658Leu)
n.1486C>A
n.1823C>A
c.219+516C>A (n.219+516C>A)
c.325-860C>A
c.4983C>A (p.Phe1661Leu)
c.4668C>A (p.Phe1556Leu)
c.2565C>A (p.Phe855Leu)
c.5007C>A (p.Phe1669Leu)
c.4998C>A (p.Phe1666Leu)
c.4989C>A (p.Phe1663Leu)
c.3327C>A (p.Phe1109Leu)
 gnomAD v4
Xg.108695437C>GCA414133010COL4A5c.4992C>G (p.Phe1664Leu)
c.4974C>G (p.Phe1658Leu)
n.1486C>G
n.1823C>G
c.219+516C>G (n.219+516C>G)
c.325-860C>G
c.4983C>G (p.Phe1661Leu)
c.4668C>G (p.Phe1556Leu)
c.2565C>G (p.Phe855Leu)
c.5007C>G (p.Phe1669Leu)
c.4998C>G (p.Phe1666Leu)
c.4989C>G (p.Phe1663Leu)
c.3327C>G (p.Phe1109Leu)
Xg.108695437C>TCA517926173COL4A5c.4992C>T (p.Phe1664=)
c.4974C>T (p.Phe1658=)
n.1486C>T
n.1823C>T
c.219+516C>T (n.219+516C>T)
c.325-860C>T
c.4983C>T (p.Phe1661=)
c.4668C>T (p.Phe1556=)
c.2565C>T (p.Phe855=)
c.5007C>T (p.Phe1669=)
c.4998C>T (p.Phe1666=)
c.4989C>T (p.Phe1663=)
c.3327C>T (p.Phe1109=)
Xg.108695438A>CCA414133012COL4A5c.4993A>C (p.Ser1665Arg)
c.4975A>C (p.Ser1659Arg)
n.1487A>C
n.1824A>C
c.219+517A>C (n.219+517A>C)
c.325-859A>C
c.4984A>C (p.Ser1662Arg)
c.4669A>C (p.Ser1557Arg)
c.2566A>C (p.Ser856Arg)
c.5008A>C (p.Ser1670Arg)
c.4999A>C (p.Ser1667Arg)
c.4990A>C (p.Ser1664Arg)
c.3328A>C (p.Ser1110Arg)
Xg.108695438A>GCA414133013COL4A5c.4993A>G (p.Ser1665Gly)
c.4975A>G (p.Ser1659Gly)
n.1487A>G
n.1824A>G
c.219+517A>G (n.219+517A>G)
c.325-859A>G
c.4984A>G (p.Ser1662Gly)
c.4669A>G (p.Ser1557Gly)
c.2566A>G (p.Ser856Gly)
c.5008A>G (p.Ser1670Gly)
c.4999A>G (p.Ser1667Gly)
c.4990A>G (p.Ser1664Gly)
c.3328A>G (p.Ser1110Gly)
Xg.108695438A>TCA414133014COL4A5c.4993A>T (p.Ser1665Cys)
c.4975A>T (p.Ser1659Cys)
n.1487A>T
n.1824A>T
c.219+517A>T (n.219+517A>T)
c.325-859A>T
c.4984A>T (p.Ser1662Cys)
c.4669A>T (p.Ser1557Cys)
c.2566A>T (p.Ser856Cys)
c.5008A>T (p.Ser1670Cys)
c.4999A>T (p.Ser1667Cys)
c.4990A>T (p.Ser1664Cys)
c.3328A>T (p.Ser1110Cys)
Xg.108695439G>ACA259138COL4A5c.4994G>A (p.Ser1665Asn)
c.4976G>A (p.Ser1659Asn)
n.1488G>A
n.1825G>A
c.219+518G>A (n.219+518G>A)
c.325-858G>A
c.4985G>A (p.Ser1662Asn)
c.4670G>A (p.Ser1557Asn)
c.2567G>A (p.Ser856Asn)
c.5009G>A (p.Ser1670Asn)
c.5000G>A (p.Ser1667Asn)
c.4991G>A (p.Ser1664Asn)
c.3329G>A (p.Ser1110Asn)
 ClinVar dbSNP
Xg.108695439G>CCA414133015COL4A5c.4994G>C (p.Ser1665Thr)
c.4976G>C (p.Ser1659Thr)
n.1488G>C
n.1825G>C
c.219+518G>C (n.219+518G>C)
c.325-858G>C
c.4985G>C (p.Ser1662Thr)
c.4670G>C (p.Ser1557Thr)
c.2567G>C (p.Ser856Thr)
c.5009G>C (p.Ser1670Thr)
c.5000G>C (p.Ser1667Thr)
c.4991G>C (p.Ser1664Thr)
c.3329G>C (p.Ser1110Thr)
Xg.108695439G=CA2450721785COL4A5c.4994G= (p.Ser1665=)
c.4976G= (p.Ser1659=)
n.1488G=
n.1825G=
c.219+518G= (n.219+518G=)
c.325-858G=
c.4985G= (p.Ser1662=)
c.4670G= (p.Ser1557=)
c.2567G= (p.Ser856=)
c.5009G= (p.Ser1670=)
c.5000G= (p.Ser1667=)
c.4991G= (p.Ser1664=)
c.3329G= (p.Ser1110=)
Xg.108695439G>TCA414133016COL4A5c.4994G>T (p.Ser1665Ile)
c.4976G>T (p.Ser1659Ile)
n.1488G>T
n.1825G>T
c.219+518G>T (n.219+518G>T)
c.325-858G>T
c.4985G>T (p.Ser1662Ile)
c.4670G>T (p.Ser1557Ile)
c.2567G>T (p.Ser856Ile)
c.5009G>T (p.Ser1670Ile)
c.5000G>T (p.Ser1667Ile)
c.4991G>T (p.Ser1664Ile)
c.3329G>T (p.Ser1110Ile)

Number of alleles fetched