Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227008019A=CA1332723864COL4A4c.410T= (p.Met137=)
c.4808T= (p.Met1603=)
c.4253T= (p.Met1418=)
c.4619T= (p.Met1540=)
c.4216+14029T= (n.4216+14029T=)
c.4727T= (p.Met1576=)
c.4700T= (p.Met1567=)
c.*141T= (n.*141T=)
c.3134T= (p.Met1045=)
n.5118T=
n.4526+14029T=
c.4691T= (p.Met1564=)
n.5134T=
n.4880T=
n.4542+14029T=
2g.227008019A>CCA351140432COL4A4c.410T>G (p.Met137Arg)
c.4808T>G (p.Met1603Arg)
c.4253T>G (p.Met1418Arg)
c.4619T>G (p.Met1540Arg)
c.4216+14029T>G (n.4216+14029T>G)
c.4727T>G (p.Met1576Arg)
c.4700T>G (p.Met1567Arg)
c.*141T>G (n.*141T>G)
c.3134T>G (p.Met1045Arg)
n.5118T>G
n.4526+14029T>G
c.4691T>G (p.Met1564Arg)
n.5134T>G
n.4880T>G
n.4542+14029T>G
2g.227008019A>GCA2144064COL4A4c.410T>C (p.Met137Thr)
c.4808T>C (p.Met1603Thr)
c.4253T>C (p.Met1418Thr)
c.4619T>C (p.Met1540Thr)
c.4216+14029T>C (n.4216+14029T>C)
c.4727T>C (p.Met1576Thr)
c.4700T>C (p.Met1567Thr)
c.*141T>C (n.*141T>C)
c.3134T>C (p.Met1045Thr)
n.5118T>C
n.4526+14029T>C
c.4691T>C (p.Met1564Thr)
n.5134T>C
n.4880T>C
n.4542+14029T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008019A>TCA351140433COL4A4c.410T>A (p.Met137Lys)
c.4808T>A (p.Met1603Lys)
c.4253T>A (p.Met1418Lys)
c.4619T>A (p.Met1540Lys)
c.4216+14029T>A (n.4216+14029T>A)
c.4727T>A (p.Met1576Lys)
c.4700T>A (p.Met1567Lys)
c.*141T>A (n.*141T>A)
c.3134T>A (p.Met1045Lys)
n.5118T>A
n.4526+14029T>A
c.4691T>A (p.Met1564Lys)
n.5134T>A
n.4880T>A
n.4542+14029T>A
2g.227008020T>ACA351140434COL4A4c.409A>T (p.Met137Leu)
c.4807A>T (p.Met1603Leu)
c.4252A>T (p.Met1418Leu)
c.4618A>T (p.Met1540Leu)
c.4216+14028A>T (n.4216+14028A>T)
c.4726A>T (p.Met1576Leu)
c.4699A>T (p.Met1567Leu)
c.*140A>T (n.*140A>T)
c.3133A>T (p.Met1045Leu)
n.5117A>T
n.4526+14028A>T
c.4690A>T (p.Met1564Leu)
n.5133A>T
n.4879A>T
n.4542+14028A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008020T>CCA351140435COL4A4c.409A>G (p.Met137Val)
c.4807A>G (p.Met1603Val)
c.4252A>G (p.Met1418Val)
c.4618A>G (p.Met1540Val)
c.4216+14028A>G (n.4216+14028A>G)
c.4726A>G (p.Met1576Val)
c.4699A>G (p.Met1567Val)
c.*140A>G (n.*140A>G)
c.3133A>G (p.Met1045Val)
n.5117A>G
n.4526+14028A>G
c.4690A>G (p.Met1564Val)
n.5133A>G
n.4879A>G
n.4542+14028A>G
2g.227008020T>GCA351140436COL4A4c.409A>C (p.Met137Leu)
c.4807A>C (p.Met1603Leu)
c.4252A>C (p.Met1418Leu)
c.4618A>C (p.Met1540Leu)
c.4216+14028A>C (n.4216+14028A>C)
c.4726A>C (p.Met1576Leu)
c.4699A>C (p.Met1567Leu)
c.*140A>C (n.*140A>C)
c.3133A>C (p.Met1045Leu)
n.5117A>C
n.4526+14028A>C
c.4690A>C (p.Met1564Leu)
n.5133A>C
n.4879A>C
n.4542+14028A>C
2g.227008020T=CA1332723865COL4A4c.409A= (p.Met137=)
c.4807A= (p.Met1603=)
c.4252A= (p.Met1418=)
c.4618A= (p.Met1540=)
c.4216+14028A= (n.4216+14028A=)
c.4726A= (p.Met1576=)
c.4699A= (p.Met1567=)
c.*140A= (n.*140A=)
c.3133A= (p.Met1045=)
n.5117A=
n.4526+14028A=
c.4690A= (p.Met1564=)
n.5133A=
n.4879A=
n.4542+14028A=
2g.227008022_227008048dupCA431672049COL4A4c.383_409dup (p.Leu136_Met137insSerLeuTrpIleGlyTyrSerPheLeu)
c.4781_4807dup (p.Leu1602_Met1603insSerLeuTrpIleGlyTyrSerPheLeu)
c.4226_4252dup (p.Leu1417_Met1418insSerLeuTrpIleGlyTyrSerPheLeu)
c.4592_4618dup (p.Leu1539_Met1540insSerLeuTrpIleGlyTyrSerPheLeu)
c.4216+14002_4216+14028dup (n.4216+14002_4216+14028dup)
c.4700_4726dup (p.Leu1575_Met1576insSerLeuTrpIleGlyTyrSerPheLeu)
c.4673_4699dup (p.Leu1566_Met1567insSerLeuTrpIleGlyTyrSerPheLeu)
c.*114_*140dup (n.*114_*140dup)
c.3107_3133dup (p.Leu1044_Met1045insSerLeuTrpIleGlyTyrSerPheLeu)
n.5091_5117dup
n.4526+14002_4526+14028dup
c.4664_4690dup (p.Leu1563_Met1564insSerLeuTrpIleGlyTyrSerPheLeu)
n.5107_5133dup
n.4853_4879dup
n.4542+14002_4542+14028dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008021C>ACA431672052COL4A4c.408G>T (p.Leu136=)
c.4806G>T (p.Leu1602=)
c.4251G>T (p.Leu1417=)
c.4617G>T (p.Leu1539=)
c.4216+14027G>T (n.4216+14027G>T)
c.4725G>T (p.Leu1575=)
c.4698G>T (p.Leu1566=)
c.*139G>T (n.*139G>T)
c.3132G>T (p.Leu1044=)
n.5116G>T
n.4526+14027G>T
c.4689G>T (p.Leu1563=)
n.5132G>T
n.4878G>T
n.4542+14027G>T
2g.227008021C>GCA431672050COL4A4c.408G>C (p.Leu136=)
c.4806G>C (p.Leu1602=)
c.4251G>C (p.Leu1417=)
c.4617G>C (p.Leu1539=)
c.4216+14027G>C (n.4216+14027G>C)
c.4725G>C (p.Leu1575=)
c.4698G>C (p.Leu1566=)
c.*139G>C (n.*139G>C)
c.3132G>C (p.Leu1044=)
n.5116G>C
n.4526+14027G>C
c.4689G>C (p.Leu1563=)
n.5132G>C
n.4878G>C
n.4542+14027G>C
2g.227008021C>TCA431672051COL4A4c.408G>A (p.Leu136=)
c.4806G>A (p.Leu1602=)
c.4251G>A (p.Leu1417=)
c.4617G>A (p.Leu1539=)
c.4216+14027G>A (n.4216+14027G>A)
c.4725G>A (p.Leu1575=)
c.4698G>A (p.Leu1566=)
c.*139G>A (n.*139G>A)
c.3132G>A (p.Leu1044=)
n.5116G>A
n.4526+14027G>A
c.4689G>A (p.Leu1563=)
n.5132G>A
n.4878G>A
n.4542+14027G>A
 gnomAD v4 COSMIC
2g.227008022A>CCA351140437COL4A4c.407T>G (p.Leu136Arg)
c.4805T>G (p.Leu1602Arg)
c.4250T>G (p.Leu1417Arg)
c.4616T>G (p.Leu1539Arg)
c.4216+14026T>G (n.4216+14026T>G)
c.4724T>G (p.Leu1575Arg)
c.4697T>G (p.Leu1566Arg)
c.*138T>G (n.*138T>G)
c.3131T>G (p.Leu1044Arg)
n.5115T>G
n.4526+14026T>G
c.4688T>G (p.Leu1563Arg)
n.5131T>G
n.4877T>G
n.4542+14026T>G
2g.227008022A>GCA351140438COL4A4c.407T>C (p.Leu136Pro)
c.4805T>C (p.Leu1602Pro)
c.4250T>C (p.Leu1417Pro)
c.4616T>C (p.Leu1539Pro)
c.4216+14026T>C (n.4216+14026T>C)
c.4724T>C (p.Leu1575Pro)
c.4697T>C (p.Leu1566Pro)
c.*138T>C (n.*138T>C)
c.3131T>C (p.Leu1044Pro)
n.5115T>C
n.4526+14026T>C
c.4688T>C (p.Leu1563Pro)
n.5131T>C
n.4877T>C
n.4542+14026T>C
2g.227008022A>TCA351140439COL4A4c.407T>A (p.Leu136Gln)
c.4805T>A (p.Leu1602Gln)
c.4250T>A (p.Leu1417Gln)
c.4616T>A (p.Leu1539Gln)
c.4216+14026T>A (n.4216+14026T>A)
c.4724T>A (p.Leu1575Gln)
c.4697T>A (p.Leu1566Gln)
c.*138T>A (n.*138T>A)
c.3131T>A (p.Leu1044Gln)
n.5115T>A
n.4526+14026T>A
c.4688T>A (p.Leu1563Gln)
n.5131T>A
n.4877T>A
n.4542+14026T>A
2g.227008023G>ACA431672053COL4A4c.406C>T (p.Leu136=)
c.4804C>T (p.Leu1602=)
c.4249C>T (p.Leu1417=)
c.4615C>T (p.Leu1539=)
c.4216+14025C>T (n.4216+14025C>T)
c.4723C>T (p.Leu1575=)
c.4696C>T (p.Leu1566=)
c.*137C>T (n.*137C>T)
c.3130C>T (p.Leu1044=)
n.5114C>T
n.4526+14025C>T
c.4687C>T (p.Leu1563=)
n.5130C>T
n.4876C>T
n.4542+14025C>T
2g.227008023G>CCA351140441COL4A4c.406C>G (p.Leu136Val)
c.4804C>G (p.Leu1602Val)
c.4249C>G (p.Leu1417Val)
c.4615C>G (p.Leu1539Val)
c.4216+14025C>G (n.4216+14025C>G)
c.4723C>G (p.Leu1575Val)
c.4696C>G (p.Leu1566Val)
c.*137C>G (n.*137C>G)
c.3130C>G (p.Leu1044Val)
n.5114C>G
n.4526+14025C>G
c.4687C>G (p.Leu1563Val)
n.5130C>G
n.4876C>G
n.4542+14025C>G
2g.227008023G>TCA351140440COL4A4c.406C>A (p.Leu136Met)
c.4804C>A (p.Leu1602Met)
c.4249C>A (p.Leu1417Met)
c.4615C>A (p.Leu1539Met)
c.4216+14025C>A (n.4216+14025C>A)
c.4723C>A (p.Leu1575Met)
c.4696C>A (p.Leu1566Met)
c.*137C>A (n.*137C>A)
c.3130C>A (p.Leu1044Met)
n.5114C>A
n.4526+14025C>A
c.4687C>A (p.Leu1563Met)
n.5130C>A
n.4876C>A
n.4542+14025C>A
2g.227008024G>ACA2144065COL4A4c.405C>T (p.Phe135=)
c.4803C>T (p.Phe1601=)
c.4248C>T (p.Phe1416=)
c.4614C>T (p.Phe1538=)
c.4216+14024C>T (n.4216+14024C>T)
c.4722C>T (p.Phe1574=)
c.4695C>T (p.Phe1565=)
c.*136C>T (n.*136C>T)
c.3129C>T (p.Phe1043=)
n.5113C>T
n.4526+14024C>T
c.4686C>T (p.Phe1562=)
n.5129C>T
n.4875C>T
n.4542+14024C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008024G>CCA351140442COL4A4c.405C>G (p.Phe135Leu)
c.4803C>G (p.Phe1601Leu)
c.4248C>G (p.Phe1416Leu)
c.4614C>G (p.Phe1538Leu)
c.4216+14024C>G (n.4216+14024C>G)
c.4722C>G (p.Phe1574Leu)
c.4695C>G (p.Phe1565Leu)
c.*136C>G (n.*136C>G)
c.3129C>G (p.Phe1043Leu)
n.5113C>G
n.4526+14024C>G
c.4686C>G (p.Phe1562Leu)
n.5129C>G
n.4875C>G
n.4542+14024C>G
2g.227008024G=CA1332723866COL4A4c.405C= (p.Phe135=)
c.4803C= (p.Phe1601=)
c.4248C= (p.Phe1416=)
c.4614C= (p.Phe1538=)
c.4216+14024C= (n.4216+14024C=)
c.4722C= (p.Phe1574=)
c.4695C= (p.Phe1565=)
c.*136C= (n.*136C=)
c.3129C= (p.Phe1043=)
n.5113C=
n.4526+14024C=
c.4686C= (p.Phe1562=)
n.5129C=
n.4875C=
n.4542+14024C=
2g.227008024G>TCA351140443COL4A4c.405C>A (p.Phe135Leu)
c.4803C>A (p.Phe1601Leu)
c.4248C>A (p.Phe1416Leu)
c.4614C>A (p.Phe1538Leu)
c.4216+14024C>A (n.4216+14024C>A)
c.4722C>A (p.Phe1574Leu)
c.4695C>A (p.Phe1565Leu)
c.*136C>A (n.*136C>A)
c.3129C>A (p.Phe1043Leu)
n.5113C>A
n.4526+14024C>A
c.4686C>A (p.Phe1562Leu)
n.5129C>A
n.4875C>A
n.4542+14024C>A
 gnomAD v4
2g.227008024_227008030delCA2663402505COL4A4c.399_405del (p.Ser134Ter)
c.4797_4803del (p.Ser1600Ter)
c.4242_4248del (p.Ser1415Ter)
c.4608_4614del (p.Ser1537Ter)
c.4216+14018_4216+14024del (n.4216+14018_4216+14024del)
c.4716_4722del (p.Ser1573Ter)
c.4689_4695del (p.Ser1564Ter)
c.*130_*136del (n.*130_*136del)
c.3123_3129del (p.Ser1042Ter)
n.5107_5113del
n.4526+14018_4526+14024del
c.4680_4686del (p.Ser1561Ter)
n.5123_5129del
n.4869_4875del
n.4542+14018_4542+14024del
 gnomAD v4
2g.227008025A>CCA351140444COL4A4c.404T>G (p.Phe135Cys)
c.4802T>G (p.Phe1601Cys)
c.4247T>G (p.Phe1416Cys)
c.4613T>G (p.Phe1538Cys)
c.4216+14023T>G (n.4216+14023T>G)
c.4721T>G (p.Phe1574Cys)
c.4694T>G (p.Phe1565Cys)
c.*135T>G (n.*135T>G)
c.3128T>G (p.Phe1043Cys)
n.5112T>G
n.4526+14023T>G
c.4685T>G (p.Phe1562Cys)
n.5128T>G
n.4874T>G
n.4542+14023T>G
2g.227008025A>GCA351140445COL4A4c.404T>C (p.Phe135Ser)
c.4802T>C (p.Phe1601Ser)
c.4247T>C (p.Phe1416Ser)
c.4613T>C (p.Phe1538Ser)
c.4216+14023T>C (n.4216+14023T>C)
c.4721T>C (p.Phe1574Ser)
c.4694T>C (p.Phe1565Ser)
c.*135T>C (n.*135T>C)
c.3128T>C (p.Phe1043Ser)
n.5112T>C
n.4526+14023T>C
c.4685T>C (p.Phe1562Ser)
n.5128T>C
n.4874T>C
n.4542+14023T>C
 gnomAD v4
2g.227008025A>TCA351140446COL4A4c.404T>A (p.Phe135Tyr)
c.4802T>A (p.Phe1601Tyr)
c.4247T>A (p.Phe1416Tyr)
c.4613T>A (p.Phe1538Tyr)
c.4216+14023T>A (n.4216+14023T>A)
c.4721T>A (p.Phe1574Tyr)
c.4694T>A (p.Phe1565Tyr)
c.*135T>A (n.*135T>A)
c.3128T>A (p.Phe1043Tyr)
n.5112T>A
n.4526+14023T>A
c.4685T>A (p.Phe1562Tyr)
n.5128T>A
n.4874T>A
n.4542+14023T>A
2g.227008026A>CCA351140447COL4A4c.403T>G (p.Phe135Val)
c.4801T>G (p.Phe1601Val)
c.4246T>G (p.Phe1416Val)
c.4612T>G (p.Phe1538Val)
c.4216+14022T>G (n.4216+14022T>G)
c.4720T>G (p.Phe1574Val)
c.4693T>G (p.Phe1565Val)
c.*134T>G (n.*134T>G)
c.3127T>G (p.Phe1043Val)
n.5111T>G
n.4526+14022T>G
c.4684T>G (p.Phe1562Val)
n.5127T>G
n.4873T>G
n.4542+14022T>G
2g.227008026A>GCA351140448COL4A4c.403T>C (p.Phe135Leu)
c.4801T>C (p.Phe1601Leu)
c.4246T>C (p.Phe1416Leu)
c.4612T>C (p.Phe1538Leu)
c.4216+14022T>C (n.4216+14022T>C)
c.4720T>C (p.Phe1574Leu)
c.4693T>C (p.Phe1565Leu)
c.*134T>C (n.*134T>C)
c.3127T>C (p.Phe1043Leu)
n.5111T>C
n.4526+14022T>C
c.4684T>C (p.Phe1562Leu)
n.5127T>C
n.4873T>C
n.4542+14022T>C
2g.227008026A>TCA351140449COL4A4c.403T>A (p.Phe135Ile)
c.4801T>A (p.Phe1601Ile)
c.4246T>A (p.Phe1416Ile)
c.4612T>A (p.Phe1538Ile)
c.4216+14022T>A (n.4216+14022T>A)
c.4720T>A (p.Phe1574Ile)
c.4693T>A (p.Phe1565Ile)
c.*134T>A (n.*134T>A)
c.3127T>A (p.Phe1043Ile)
n.5111T>A
n.4526+14022T>A
c.4684T>A (p.Phe1562Ile)
n.5127T>A
n.4873T>A
n.4542+14022T>A
2g.227008027T>ACA431672054COL4A4c.402A>T (p.Ser134=)
c.4800A>T (p.Ser1600=)
c.4245A>T (p.Ser1415=)
c.4611A>T (p.Ser1537=)
c.4216+14021A>T (n.4216+14021A>T)
c.4719A>T (p.Ser1573=)
c.4692A>T (p.Ser1564=)
c.*133A>T (n.*133A>T)
c.3126A>T (p.Ser1042=)
n.5110A>T
n.4526+14021A>T
c.4683A>T (p.Ser1561=)
n.5126A>T
n.4872A>T
n.4542+14021A>T
 ClinVar dbSNP
2g.227008027T>CCA431672056COL4A4c.402A>G (p.Ser134=)
c.4800A>G (p.Ser1600=)
c.4245A>G (p.Ser1415=)
c.4611A>G (p.Ser1537=)
c.4216+14021A>G (n.4216+14021A>G)
c.4719A>G (p.Ser1573=)
c.4692A>G (p.Ser1564=)
c.*133A>G (n.*133A>G)
c.3126A>G (p.Ser1042=)
n.5110A>G
n.4526+14021A>G
c.4683A>G (p.Ser1561=)
n.5126A>G
n.4872A>G
n.4542+14021A>G
2g.227008027T>GCA431672055COL4A4c.402A>C (p.Ser134=)
c.4800A>C (p.Ser1600=)
c.4245A>C (p.Ser1415=)
c.4611A>C (p.Ser1537=)
c.4216+14021A>C (n.4216+14021A>C)
c.4719A>C (p.Ser1573=)
c.4692A>C (p.Ser1564=)
c.*133A>C (n.*133A>C)
c.3126A>C (p.Ser1042=)
n.5110A>C
n.4526+14021A>C
c.4683A>C (p.Ser1561=)
n.5126A>C
n.4872A>C
n.4542+14021A>C
2g.227008028G>ACA351140450COL4A4c.401C>T (p.Ser134Leu)
c.4799C>T (p.Ser1600Leu)
c.4244C>T (p.Ser1415Leu)
c.4610C>T (p.Ser1537Leu)
c.4216+14020C>T (n.4216+14020C>T)
c.4718C>T (p.Ser1573Leu)
c.4691C>T (p.Ser1564Leu)
c.*132C>T (n.*132C>T)
c.3125C>T (p.Ser1042Leu)
n.5109C>T
n.4526+14020C>T
c.4682C>T (p.Ser1561Leu)
n.5125C>T
n.4871C>T
n.4542+14020C>T
2g.227008028G>CCA351140451COL4A4c.401C>G (p.Ser134Ter)
c.4799C>G (p.Ser1600Ter)
c.4244C>G (p.Ser1415Ter)
c.4610C>G (p.Ser1537Ter)
c.4216+14020C>G (n.4216+14020C>G)
c.4718C>G (p.Ser1573Ter)
c.4691C>G (p.Ser1564Ter)
c.*132C>G (n.*132C>G)
c.3125C>G (p.Ser1042Ter)
n.5109C>G
n.4526+14020C>G
c.4682C>G (p.Ser1561Ter)
n.5125C>G
n.4871C>G
n.4542+14020C>G
2g.227008028G>TCA351140452COL4A4c.401C>A (p.Ser134Ter)
c.4799C>A (p.Ser1600Ter)
c.4244C>A (p.Ser1415Ter)
c.4610C>A (p.Ser1537Ter)
c.4216+14020C>A (n.4216+14020C>A)
c.4718C>A (p.Ser1573Ter)
c.4691C>A (p.Ser1564Ter)
c.*132C>A (n.*132C>A)
c.3125C>A (p.Ser1042Ter)
n.5109C>A
n.4526+14020C>A
c.4682C>A (p.Ser1561Ter)
n.5125C>A
n.4871C>A
n.4542+14020C>A
2g.227008029A>CCA351140454COL4A4c.400T>G (p.Ser134Ala)
c.4798T>G (p.Ser1600Ala)
c.4243T>G (p.Ser1415Ala)
c.4609T>G (p.Ser1537Ala)
c.4216+14019T>G (n.4216+14019T>G)
c.4717T>G (p.Ser1573Ala)
c.4690T>G (p.Ser1564Ala)
c.*131T>G (n.*131T>G)
c.3124T>G (p.Ser1042Ala)
n.5108T>G
n.4526+14019T>G
c.4681T>G (p.Ser1561Ala)
n.5124T>G
n.4870T>G
n.4542+14019T>G
2g.227008029A>GCA351140455COL4A4c.400T>C (p.Ser134Pro)
c.4798T>C (p.Ser1600Pro)
c.4243T>C (p.Ser1415Pro)
c.4609T>C (p.Ser1537Pro)
c.4216+14019T>C (n.4216+14019T>C)
c.4717T>C (p.Ser1573Pro)
c.4690T>C (p.Ser1564Pro)
c.*131T>C (n.*131T>C)
c.3124T>C (p.Ser1042Pro)
n.5108T>C
n.4526+14019T>C
c.4681T>C (p.Ser1561Pro)
n.5124T>C
n.4870T>C
n.4542+14019T>C
2g.227008029A>TCA351140453COL4A4c.400T>A (p.Ser134Thr)
c.4798T>A (p.Ser1600Thr)
c.4243T>A (p.Ser1415Thr)
c.4609T>A (p.Ser1537Thr)
c.4216+14019T>A (n.4216+14019T>A)
c.4717T>A (p.Ser1573Thr)
c.4690T>A (p.Ser1564Thr)
c.*131T>A (n.*131T>A)
c.3124T>A (p.Ser1042Thr)
n.5108T>A
n.4526+14019T>A
c.4681T>A (p.Ser1561Thr)
n.5124T>A
n.4870T>A
n.4542+14019T>A
2g.227008030A>CCA351140456COL4A4c.399T>G (p.Tyr133Ter)
c.4797T>G (p.Tyr1599Ter)
c.4242T>G (p.Tyr1414Ter)
c.4608T>G (p.Tyr1536Ter)
c.4216+14018T>G (n.4216+14018T>G)
c.4716T>G (p.Tyr1572Ter)
c.4689T>G (p.Tyr1563Ter)
c.*130T>G (n.*130T>G)
c.3123T>G (p.Tyr1041Ter)
n.5107T>G
n.4526+14018T>G
c.4680T>G (p.Tyr1560Ter)
n.5123T>G
n.4869T>G
n.4542+14018T>G
2g.227008030A>GCA431672057COL4A4c.399T>C (p.Tyr133=)
c.4797T>C (p.Tyr1599=)
c.4242T>C (p.Tyr1414=)
c.4608T>C (p.Tyr1536=)
c.4216+14018T>C (n.4216+14018T>C)
c.4716T>C (p.Tyr1572=)
c.4689T>C (p.Tyr1563=)
c.*130T>C (n.*130T>C)
c.3123T>C (p.Tyr1041=)
n.5107T>C
n.4526+14018T>C
c.4680T>C (p.Tyr1560=)
n.5123T>C
n.4869T>C
n.4542+14018T>C
 COSMIC
2g.227008030A>TCA351140457COL4A4c.399T>A (p.Tyr133Ter)
c.4797T>A (p.Tyr1599Ter)
c.4242T>A (p.Tyr1414Ter)
c.4608T>A (p.Tyr1536Ter)
c.4216+14018T>A (n.4216+14018T>A)
c.4716T>A (p.Tyr1572Ter)
c.4689T>A (p.Tyr1563Ter)
c.*130T>A (n.*130T>A)
c.3123T>A (p.Tyr1041Ter)
n.5107T>A
n.4526+14018T>A
c.4680T>A (p.Tyr1560Ter)
n.5123T>A
n.4869T>A
n.4542+14018T>A
2g.227008031T>ACA351140458COL4A4c.398A>T (p.Tyr133Phe)
c.4796A>T (p.Tyr1599Phe)
c.4241A>T (p.Tyr1414Phe)
c.4607A>T (p.Tyr1536Phe)
c.4216+14017A>T (n.4216+14017A>T)
c.4715A>T (p.Tyr1572Phe)
c.4688A>T (p.Tyr1563Phe)
c.*129A>T (n.*129A>T)
c.3122A>T (p.Tyr1041Phe)
n.5106A>T
n.4526+14017A>T
c.4679A>T (p.Tyr1560Phe)
n.5122A>T
n.4868A>T
n.4542+14017A>T
2g.227008031T>CCA351140459COL4A4c.398A>G (p.Tyr133Cys)
c.4796A>G (p.Tyr1599Cys)
c.4241A>G (p.Tyr1414Cys)
c.4607A>G (p.Tyr1536Cys)
c.4216+14017A>G (n.4216+14017A>G)
c.4715A>G (p.Tyr1572Cys)
c.4688A>G (p.Tyr1563Cys)
c.*129A>G (n.*129A>G)
c.3122A>G (p.Tyr1041Cys)
n.5106A>G
n.4526+14017A>G
c.4679A>G (p.Tyr1560Cys)
n.5122A>G
n.4868A>G
n.4542+14017A>G
2g.227008031T>GCA351140460COL4A4c.398A>C (p.Tyr133Ser)
c.4796A>C (p.Tyr1599Ser)
c.4241A>C (p.Tyr1414Ser)
c.4607A>C (p.Tyr1536Ser)
c.4216+14017A>C (n.4216+14017A>C)
c.4715A>C (p.Tyr1572Ser)
c.4688A>C (p.Tyr1563Ser)
c.*129A>C (n.*129A>C)
c.3122A>C (p.Tyr1041Ser)
n.5106A>C
n.4526+14017A>C
c.4679A>C (p.Tyr1560Ser)
n.5122A>C
n.4868A>C
n.4542+14017A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008031T=CA1332723867COL4A4c.398A= (p.Tyr133=)
c.4796A= (p.Tyr1599=)
c.4241A= (p.Tyr1414=)
c.4607A= (p.Tyr1536=)
c.4216+14017A= (n.4216+14017A=)
c.4715A= (p.Tyr1572=)
c.4688A= (p.Tyr1563=)
c.*129A= (n.*129A=)
c.3122A= (p.Tyr1041=)
n.5106A=
n.4526+14017A=
c.4679A= (p.Tyr1560=)
n.5122A=
n.4868A=
n.4542+14017A=
2g.227008032A>CCA351140461COL4A4c.397T>G (p.Tyr133Asp)
c.4795T>G (p.Tyr1599Asp)
c.4240T>G (p.Tyr1414Asp)
c.4606T>G (p.Tyr1536Asp)
c.4216+14016T>G (n.4216+14016T>G)
c.4714T>G (p.Tyr1572Asp)
c.4687T>G (p.Tyr1563Asp)
c.*128T>G (n.*128T>G)
c.3121T>G (p.Tyr1041Asp)
n.5105T>G
n.4526+14016T>G
c.4678T>G (p.Tyr1560Asp)
n.5121T>G
n.4867T>G
n.4542+14016T>G
2g.227008032A>GCA351140462COL4A4c.397T>C (p.Tyr133His)
c.4795T>C (p.Tyr1599His)
c.4240T>C (p.Tyr1414His)
c.4606T>C (p.Tyr1536His)
c.4216+14016T>C (n.4216+14016T>C)
c.4714T>C (p.Tyr1572His)
c.4687T>C (p.Tyr1563His)
c.*128T>C (n.*128T>C)
c.3121T>C (p.Tyr1041His)
n.5105T>C
n.4526+14016T>C
c.4678T>C (p.Tyr1560His)
n.5121T>C
n.4867T>C
n.4542+14016T>C
2g.227008032A>TCA351140463COL4A4c.397T>A (p.Tyr133Asn)
c.4795T>A (p.Tyr1599Asn)
c.4240T>A (p.Tyr1414Asn)
c.4606T>A (p.Tyr1536Asn)
c.4216+14016T>A (n.4216+14016T>A)
c.4714T>A (p.Tyr1572Asn)
c.4687T>A (p.Tyr1563Asn)
c.*128T>A (n.*128T>A)
c.3121T>A (p.Tyr1041Asn)
n.5105T>A
n.4526+14016T>A
c.4678T>A (p.Tyr1560Asn)
n.5121T>A
n.4867T>A
n.4542+14016T>A
2g.227008033C>ACA431672059COL4A4c.396G>T (p.Gly132=)
c.4794G>T (p.Gly1598=)
c.4239G>T (p.Gly1413=)
c.4605G>T (p.Gly1535=)
c.4216+14015G>T (n.4216+14015G>T)
c.4713G>T (p.Gly1571=)
c.4686G>T (p.Gly1562=)
c.*127G>T (n.*127G>T)
c.3120G>T (p.Gly1040=)
n.5104G>T
n.4526+14015G>T
c.4677G>T (p.Gly1559=)
n.5120G>T
n.4866G>T
n.4542+14015G>T
 gnomAD v4
2g.227008033C=CA1332723868COL4A4c.396G= (p.Gly132=)
c.4794G= (p.Gly1598=)
c.4239G= (p.Gly1413=)
c.4605G= (p.Gly1535=)
c.4216+14015G= (n.4216+14015G=)
c.4713G= (p.Gly1571=)
c.4686G= (p.Gly1562=)
c.*127G= (n.*127G=)
c.3120G= (p.Gly1040=)
n.5104G=
n.4526+14015G=
c.4677G= (p.Gly1559=)
n.5120G=
n.4866G=
n.4542+14015G=
2g.227008033C>GCA431672060COL4A4c.396G>C (p.Gly132=)
c.4794G>C (p.Gly1598=)
c.4239G>C (p.Gly1413=)
c.4605G>C (p.Gly1535=)
c.4216+14015G>C (n.4216+14015G>C)
c.4713G>C (p.Gly1571=)
c.4686G>C (p.Gly1562=)
c.*127G>C (n.*127G>C)
c.3120G>C (p.Gly1040=)
n.5104G>C
n.4526+14015G>C
c.4677G>C (p.Gly1559=)
n.5120G>C
n.4866G>C
n.4542+14015G>C
2g.227008033C>TCA2144066COL4A4c.396G>A (p.Gly132=)
c.4794G>A (p.Gly1598=)
c.4239G>A (p.Gly1413=)
c.4605G>A (p.Gly1535=)
c.4216+14015G>A (n.4216+14015G>A)
c.4713G>A (p.Gly1571=)
c.4686G>A (p.Gly1562=)
c.*127G>A (n.*127G>A)
c.3120G>A (p.Gly1040=)
n.5104G>A
n.4526+14015G>A
c.4677G>A (p.Gly1559=)
n.5120G>A
n.4866G>A
n.4542+14015G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008033_227008035delCA2663402511COL4A4c.394_396del (p.Gly132del)
c.4792_4794del (p.Gly1598del)
c.4237_4239del (p.Gly1413del)
c.4603_4605del (p.Gly1535del)
c.4216+14013_4216+14015del (n.4216+14013_4216+14015del)
c.4711_4713del (p.Gly1571del)
c.4684_4686del (p.Gly1562del)
c.*125_*127del (n.*125_*127del)
c.3118_3120del (p.Gly1040del)
n.5102_5104del
n.4526+14013_4526+14015del
c.4675_4677del (p.Gly1559del)
n.5118_5120del
n.4864_4866del
n.4542+14013_4542+14015del
 gnomAD v4
2g.227008034C>ACA351140464COL4A4c.395G>T (p.Gly132Val)
c.4793G>T (p.Gly1598Val)
c.4238G>T (p.Gly1413Val)
c.4604G>T (p.Gly1535Val)
c.4216+14014G>T (n.4216+14014G>T)
c.4712G>T (p.Gly1571Val)
c.4685G>T (p.Gly1562Val)
c.*126G>T (n.*126G>T)
c.3119G>T (p.Gly1040Val)
n.5103G>T
n.4526+14014G>T
c.4676G>T (p.Gly1559Val)
n.5119G>T
n.4865G>T
n.4542+14014G>T
2g.227008034C>GCA351140465COL4A4c.395G>C (p.Gly132Ala)
c.4793G>C (p.Gly1598Ala)
c.4238G>C (p.Gly1413Ala)
c.4604G>C (p.Gly1535Ala)
c.4216+14014G>C (n.4216+14014G>C)
c.4712G>C (p.Gly1571Ala)
c.4685G>C (p.Gly1562Ala)
c.*126G>C (n.*126G>C)
c.3119G>C (p.Gly1040Ala)
n.5103G>C
n.4526+14014G>C
c.4676G>C (p.Gly1559Ala)
n.5119G>C
n.4865G>C
n.4542+14014G>C
2g.227008034C>TCA351140466COL4A4c.395G>A (p.Gly132Glu)
c.4793G>A (p.Gly1598Glu)
c.4238G>A (p.Gly1413Glu)
c.4604G>A (p.Gly1535Glu)
c.4216+14014G>A (n.4216+14014G>A)
c.4712G>A (p.Gly1571Glu)
c.4685G>A (p.Gly1562Glu)
c.*126G>A (n.*126G>A)
c.3119G>A (p.Gly1040Glu)
n.5103G>A
n.4526+14014G>A
c.4676G>A (p.Gly1559Glu)
n.5119G>A
n.4865G>A
n.4542+14014G>A
2g.227008035C>ACA351140468COL4A4c.394G>T (p.Gly132Trp)
c.4792G>T (p.Gly1598Trp)
c.4237G>T (p.Gly1413Trp)
c.4603G>T (p.Gly1535Trp)
c.4216+14013G>T (n.4216+14013G>T)
c.4711G>T (p.Gly1571Trp)
c.4684G>T (p.Gly1562Trp)
c.*125G>T (n.*125G>T)
c.3118G>T (p.Gly1040Trp)
n.5102G>T
n.4526+14013G>T
c.4675G>T (p.Gly1559Trp)
n.5118G>T
n.4864G>T
n.4542+14013G>T
 gnomAD v4
2g.227008035C=CA1332723869COL4A4c.394G= (p.Gly132=)
c.4792G= (p.Gly1598=)
c.4237G= (p.Gly1413=)
c.4603G= (p.Gly1535=)
c.4216+14013G= (n.4216+14013G=)
c.4711G= (p.Gly1571=)
c.4684G= (p.Gly1562=)
c.*125G= (n.*125G=)
c.3118G= (p.Gly1040=)
n.5102G=
n.4526+14013G=
c.4675G= (p.Gly1559=)
n.5118G=
n.4864G=
n.4542+14013G=
2g.227008035C>GCA351140469COL4A4c.394G>C (p.Gly132Arg)
c.4792G>C (p.Gly1598Arg)
c.4237G>C (p.Gly1413Arg)
c.4603G>C (p.Gly1535Arg)
c.4216+14013G>C (n.4216+14013G>C)
c.4711G>C (p.Gly1571Arg)
c.4684G>C (p.Gly1562Arg)
c.*125G>C (n.*125G>C)
c.3118G>C (p.Gly1040Arg)
n.5102G>C
n.4526+14013G>C
c.4675G>C (p.Gly1559Arg)
n.5118G>C
n.4864G>C
n.4542+14013G>C
2g.227008035C>TCA351140467COL4A4c.394G>A (p.Gly132Arg)
c.4792G>A (p.Gly1598Arg)
c.4237G>A (p.Gly1413Arg)
c.4603G>A (p.Gly1535Arg)
c.4216+14013G>A (n.4216+14013G>A)
c.4711G>A (p.Gly1571Arg)
c.4684G>A (p.Gly1562Arg)
c.*125G>A (n.*125G>A)
c.3118G>A (p.Gly1040Arg)
n.5102G>A
n.4526+14013G>A
c.4675G>A (p.Gly1559Arg)
n.5118G>A
n.4864G>A
n.4542+14013G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227008036G>ACA2144067COL4A4c.393C>T (p.Ile131=)
c.4791C>T (p.Ile1597=)
c.4236C>T (p.Ile1412=)
c.4602C>T (p.Ile1534=)
c.4216+14012C>T (n.4216+14012C>T)
c.4710C>T (p.Ile1570=)
c.4683C>T (p.Ile1561=)
c.*124C>T (n.*124C>T)
c.3117C>T (p.Ile1039=)
n.5101C>T
n.4526+14012C>T
c.4674C>T (p.Ile1558=)
n.5117C>T
n.4863C>T
n.4542+14012C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008036G>CCA351140470COL4A4c.393C>G (p.Ile131Met)
c.4791C>G (p.Ile1597Met)
c.4236C>G (p.Ile1412Met)
c.4602C>G (p.Ile1534Met)
c.4216+14012C>G (n.4216+14012C>G)
c.4710C>G (p.Ile1570Met)
c.4683C>G (p.Ile1561Met)
c.*124C>G (n.*124C>G)
c.3117C>G (p.Ile1039Met)
n.5101C>G
n.4526+14012C>G
c.4674C>G (p.Ile1558Met)
n.5117C>G
n.4863C>G
n.4542+14012C>G
 dbSNP gnomAD v2 gnomAD v4
2g.227008036G=CA1332723870COL4A4c.393C= (p.Ile131=)
c.4791C= (p.Ile1597=)
c.4236C= (p.Ile1412=)
c.4602C= (p.Ile1534=)
c.4216+14012C= (n.4216+14012C=)
c.4710C= (p.Ile1570=)
c.4683C= (p.Ile1561=)
c.*124C= (n.*124C=)
c.3117C= (p.Ile1039=)
n.5101C=
n.4526+14012C=
c.4674C= (p.Ile1558=)
n.5117C=
n.4863C=
n.4542+14012C=
2g.227008036G>TCA431672061COL4A4c.393C>A (p.Ile131=)
c.4791C>A (p.Ile1597=)
c.4236C>A (p.Ile1412=)
c.4602C>A (p.Ile1534=)
c.4216+14012C>A (n.4216+14012C>A)
c.4710C>A (p.Ile1570=)
c.4683C>A (p.Ile1561=)
c.*124C>A (n.*124C>A)
c.3117C>A (p.Ile1039=)
n.5101C>A
n.4526+14012C>A
c.4674C>A (p.Ile1558=)
n.5117C>A
n.4863C>A
n.4542+14012C>A
2g.227008037A>CCA351140471COL4A4c.392T>G (p.Ile131Ser)
c.4790T>G (p.Ile1597Ser)
c.4235T>G (p.Ile1412Ser)
c.4601T>G (p.Ile1534Ser)
c.4216+14011T>G (n.4216+14011T>G)
c.4709T>G (p.Ile1570Ser)
c.4682T>G (p.Ile1561Ser)
c.*123T>G (n.*123T>G)
c.3116T>G (p.Ile1039Ser)
n.5100T>G
n.4526+14011T>G
c.4673T>G (p.Ile1558Ser)
n.5116T>G
n.4862T>G
n.4542+14011T>G
2g.227008037A>GCA351140472COL4A4c.392T>C (p.Ile131Thr)
c.4790T>C (p.Ile1597Thr)
c.4235T>C (p.Ile1412Thr)
c.4601T>C (p.Ile1534Thr)
c.4216+14011T>C (n.4216+14011T>C)
c.4709T>C (p.Ile1570Thr)
c.4682T>C (p.Ile1561Thr)
c.*123T>C (n.*123T>C)
c.3116T>C (p.Ile1039Thr)
n.5100T>C
n.4526+14011T>C
c.4673T>C (p.Ile1558Thr)
n.5116T>C
n.4862T>C
n.4542+14011T>C
2g.227008037A>TCA351140473COL4A4c.392T>A (p.Ile131Asn)
c.4790T>A (p.Ile1597Asn)
c.4235T>A (p.Ile1412Asn)
c.4601T>A (p.Ile1534Asn)
c.4216+14011T>A (n.4216+14011T>A)
c.4709T>A (p.Ile1570Asn)
c.4682T>A (p.Ile1561Asn)
c.*123T>A (n.*123T>A)
c.3116T>A (p.Ile1039Asn)
n.5100T>A
n.4526+14011T>A
c.4673T>A (p.Ile1558Asn)
n.5116T>A
n.4862T>A
n.4542+14011T>A
 COSMIC
2g.227008038T>ACA351140476COL4A4c.391A>T (p.Ile131Phe)
c.4789A>T (p.Ile1597Phe)
c.4234A>T (p.Ile1412Phe)
c.4600A>T (p.Ile1534Phe)
c.4216+14010A>T (n.4216+14010A>T)
c.4708A>T (p.Ile1570Phe)
c.4681A>T (p.Ile1561Phe)
c.*122A>T (n.*122A>T)
c.3115A>T (p.Ile1039Phe)
n.5099A>T
n.4526+14010A>T
c.4672A>T (p.Ile1558Phe)
n.5115A>T
n.4861A>T
n.4542+14010A>T
2g.227008038T>CCA351140474COL4A4c.391A>G (p.Ile131Val)
c.4789A>G (p.Ile1597Val)
c.4234A>G (p.Ile1412Val)
c.4600A>G (p.Ile1534Val)
c.4216+14010A>G (n.4216+14010A>G)
c.4708A>G (p.Ile1570Val)
c.4681A>G (p.Ile1561Val)
c.*122A>G (n.*122A>G)
c.3115A>G (p.Ile1039Val)
n.5099A>G
n.4526+14010A>G
c.4672A>G (p.Ile1558Val)
n.5115A>G
n.4861A>G
n.4542+14010A>G
2g.227008038T>GCA351140475COL4A4c.391A>C (p.Ile131Leu)
c.4789A>C (p.Ile1597Leu)
c.4234A>C (p.Ile1412Leu)
c.4600A>C (p.Ile1534Leu)
c.4216+14010A>C (n.4216+14010A>C)
c.4708A>C (p.Ile1570Leu)
c.4681A>C (p.Ile1561Leu)
c.*122A>C (n.*122A>C)
c.3115A>C (p.Ile1039Leu)
n.5099A>C
n.4526+14010A>C
c.4672A>C (p.Ile1558Leu)
n.5115A>C
n.4861A>C
n.4542+14010A>C
2g.227008039C>ACA351140477COL4A4c.390G>T (p.Trp130Cys)
c.4788G>T (p.Trp1596Cys)
c.4233G>T (p.Trp1411Cys)
c.4599G>T (p.Trp1533Cys)
c.4216+14009G>T (n.4216+14009G>T)
c.4707G>T (p.Trp1569Cys)
c.4680G>T (p.Trp1560Cys)
c.*121G>T (n.*121G>T)
c.3114G>T (p.Trp1038Cys)
n.5098G>T
n.4526+14009G>T
c.4671G>T (p.Trp1557Cys)
n.5114G>T
n.4860G>T
n.4542+14009G>T
2g.227008039C=CA1332723871COL4A4c.390G= (p.Trp130=)
c.4788G= (p.Trp1596=)
c.4233G= (p.Trp1411=)
c.4599G= (p.Trp1533=)
c.4216+14009G= (n.4216+14009G=)
c.4707G= (p.Trp1569=)
c.4680G= (p.Trp1560=)
c.*121G= (n.*121G=)
c.3114G= (p.Trp1038=)
n.5098G=
n.4526+14009G=
c.4671G= (p.Trp1557=)
n.5114G=
n.4860G=
n.4542+14009G=
2g.227008039C>GCA351140478COL4A4c.390G>C (p.Trp130Cys)
c.4788G>C (p.Trp1596Cys)
c.4233G>C (p.Trp1411Cys)
c.4599G>C (p.Trp1533Cys)
c.4216+14009G>C (n.4216+14009G>C)
c.4707G>C (p.Trp1569Cys)
c.4680G>C (p.Trp1560Cys)
c.*121G>C (n.*121G>C)
c.3114G>C (p.Trp1038Cys)
n.5098G>C
n.4526+14009G>C
c.4671G>C (p.Trp1557Cys)
n.5114G>C
n.4860G>C
n.4542+14009G>C
2g.227008039C>TCA2144068COL4A4c.390G>A (p.Trp130Ter)
c.4788G>A (p.Trp1596Ter)
c.4233G>A (p.Trp1411Ter)
c.4599G>A (p.Trp1533Ter)
c.4216+14009G>A (n.4216+14009G>A)
c.4707G>A (p.Trp1569Ter)
c.4680G>A (p.Trp1560Ter)
c.*121G>A (n.*121G>A)
c.3114G>A (p.Trp1038Ter)
n.5098G>A
n.4526+14009G>A
c.4671G>A (p.Trp1557Ter)
n.5114G>A
n.4860G>A
n.4542+14009G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.227008040C>ACA351140479COL4A4c.389G>T (p.Trp130Leu)
c.4787G>T (p.Trp1596Leu)
c.4232G>T (p.Trp1411Leu)
c.4598G>T (p.Trp1533Leu)
c.4216+14008G>T (n.4216+14008G>T)
c.4706G>T (p.Trp1569Leu)
c.4679G>T (p.Trp1560Leu)
c.*120G>T (n.*120G>T)
c.3113G>T (p.Trp1038Leu)
n.5097G>T
n.4526+14008G>T
c.4670G>T (p.Trp1557Leu)
n.5113G>T
n.4859G>T
n.4542+14008G>T
2g.227008040C=CA1332723872COL4A4c.389G= (p.Trp130=)
c.4787G= (p.Trp1596=)
c.4232G= (p.Trp1411=)
c.4598G= (p.Trp1533=)
c.4216+14008G= (n.4216+14008G=)
c.4706G= (p.Trp1569=)
c.4679G= (p.Trp1560=)
c.*120G= (n.*120G=)
c.3113G= (p.Trp1038=)
n.5097G=
n.4526+14008G=
c.4670G= (p.Trp1557=)
n.5113G=
n.4859G=
n.4542+14008G=
2g.227008040C>GCA351140480COL4A4c.389G>C (p.Trp130Ser)
c.4787G>C (p.Trp1596Ser)
c.4232G>C (p.Trp1411Ser)
c.4598G>C (p.Trp1533Ser)
c.4216+14008G>C (n.4216+14008G>C)
c.4706G>C (p.Trp1569Ser)
c.4679G>C (p.Trp1560Ser)
c.*120G>C (n.*120G>C)
c.3113G>C (p.Trp1038Ser)
n.5097G>C
n.4526+14008G>C
c.4670G>C (p.Trp1557Ser)
n.5113G>C
n.4859G>C
n.4542+14008G>C
2g.227008040C>TCA351140481COL4A4c.389G>A (p.Trp130Ter)
c.4787G>A (p.Trp1596Ter)
c.4232G>A (p.Trp1411Ter)
c.4598G>A (p.Trp1533Ter)
c.4216+14008G>A (n.4216+14008G>A)
c.4706G>A (p.Trp1569Ter)
c.4679G>A (p.Trp1560Ter)
c.*120G>A (n.*120G>A)
c.3113G>A (p.Trp1038Ter)
n.5097G>A
n.4526+14008G>A
c.4670G>A (p.Trp1557Ter)
n.5113G>A
n.4859G>A
n.4542+14008G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008041A>CCA351140484COL4A4c.388T>G (p.Trp130Gly)
c.4786T>G (p.Trp1596Gly)
c.4231T>G (p.Trp1411Gly)
c.4597T>G (p.Trp1533Gly)
c.4216+14007T>G (n.4216+14007T>G)
c.4705T>G (p.Trp1569Gly)
c.4678T>G (p.Trp1560Gly)
c.*119T>G (n.*119T>G)
c.3112T>G (p.Trp1038Gly)
n.5096T>G
n.4526+14007T>G
c.4669T>G (p.Trp1557Gly)
n.5112T>G
n.4858T>G
n.4542+14007T>G
2g.227008041A>GCA351140483COL4A4c.388T>C (p.Trp130Arg)
c.4786T>C (p.Trp1596Arg)
c.4231T>C (p.Trp1411Arg)
c.4597T>C (p.Trp1533Arg)
c.4216+14007T>C (n.4216+14007T>C)
c.4705T>C (p.Trp1569Arg)
c.4678T>C (p.Trp1560Arg)
c.*119T>C (n.*119T>C)
c.3112T>C (p.Trp1038Arg)
n.5096T>C
n.4526+14007T>C
c.4669T>C (p.Trp1557Arg)
n.5112T>C
n.4858T>C
n.4542+14007T>C
2g.227008041A>TCA351140482COL4A4c.388T>A (p.Trp130Arg)
c.4786T>A (p.Trp1596Arg)
c.4231T>A (p.Trp1411Arg)
c.4597T>A (p.Trp1533Arg)
c.4216+14007T>A (n.4216+14007T>A)
c.4705T>A (p.Trp1569Arg)
c.4678T>A (p.Trp1560Arg)
c.*119T>A (n.*119T>A)
c.3112T>A (p.Trp1038Arg)
n.5096T>A
n.4526+14007T>A
c.4669T>A (p.Trp1557Arg)
n.5112T>A
n.4858T>A
n.4542+14007T>A
2g.227008042G>ACA431672063COL4A4c.387C>T (p.Leu129=)
c.4785C>T (p.Leu1595=)
c.4230C>T (p.Leu1410=)
c.4596C>T (p.Leu1532=)
c.4216+14006C>T (n.4216+14006C>T)
c.4704C>T (p.Leu1568=)
c.4677C>T (p.Leu1559=)
c.*118C>T (n.*118C>T)
c.3111C>T (p.Leu1037=)
n.5095C>T
n.4526+14006C>T
c.4668C>T (p.Leu1556=)
n.5111C>T
n.4857C>T
n.4542+14006C>T
2g.227008042G>CCA431672065COL4A4c.387C>G (p.Leu129=)
c.4785C>G (p.Leu1595=)
c.4230C>G (p.Leu1410=)
c.4596C>G (p.Leu1532=)
c.4216+14006C>G (n.4216+14006C>G)
c.4704C>G (p.Leu1568=)
c.4677C>G (p.Leu1559=)
c.*118C>G (n.*118C>G)
c.3111C>G (p.Leu1037=)
n.5095C>G
n.4526+14006C>G
c.4668C>G (p.Leu1556=)
n.5111C>G
n.4857C>G
n.4542+14006C>G
2g.227008042G>TCA431672064COL4A4c.387C>A (p.Leu129=)
c.4785C>A (p.Leu1595=)
c.4230C>A (p.Leu1410=)
c.4596C>A (p.Leu1532=)
c.4216+14006C>A (n.4216+14006C>A)
c.4704C>A (p.Leu1568=)
c.4677C>A (p.Leu1559=)
c.*118C>A (n.*118C>A)
c.3111C>A (p.Leu1037=)
n.5095C>A
n.4526+14006C>A
c.4668C>A (p.Leu1556=)
n.5111C>A
n.4857C>A
n.4542+14006C>A
2g.227008043A=CA1332723873COL4A4c.386T= (p.Leu129=)
c.4784T= (p.Leu1595=)
c.4229T= (p.Leu1410=)
c.4595T= (p.Leu1532=)
c.4216+14005T= (n.4216+14005T=)
c.4703T= (p.Leu1568=)
c.4676T= (p.Leu1559=)
c.*117T= (n.*117T=)
c.3110T= (p.Leu1037=)
n.5094T=
n.4526+14005T=
c.4667T= (p.Leu1556=)
n.5110T=
n.4856T=
n.4542+14005T=
2g.227008043A>CCA351140486COL4A4c.386T>G (p.Leu129Arg)
c.4784T>G (p.Leu1595Arg)
c.4229T>G (p.Leu1410Arg)
c.4595T>G (p.Leu1532Arg)
c.4216+14005T>G (n.4216+14005T>G)
c.4703T>G (p.Leu1568Arg)
c.4676T>G (p.Leu1559Arg)
c.*117T>G (n.*117T>G)
c.3110T>G (p.Leu1037Arg)
n.5094T>G
n.4526+14005T>G
c.4667T>G (p.Leu1556Arg)
n.5110T>G
n.4856T>G
n.4542+14005T>G
2g.227008043A>GCA351140485COL4A4c.386T>C (p.Leu129Pro)
c.4784T>C (p.Leu1595Pro)
c.4229T>C (p.Leu1410Pro)
c.4595T>C (p.Leu1532Pro)
c.4216+14005T>C (n.4216+14005T>C)
c.4703T>C (p.Leu1568Pro)
c.4676T>C (p.Leu1559Pro)
c.*117T>C (n.*117T>C)
c.3110T>C (p.Leu1037Pro)
n.5094T>C
n.4526+14005T>C
c.4667T>C (p.Leu1556Pro)
n.5110T>C
n.4856T>C
n.4542+14005T>C
 ClinVar dbSNP
2g.227008043A>TCA351140487COL4A4c.386T>A (p.Leu129His)
c.4784T>A (p.Leu1595His)
c.4229T>A (p.Leu1410His)
c.4595T>A (p.Leu1532His)
c.4216+14005T>A (n.4216+14005T>A)
c.4703T>A (p.Leu1568His)
c.4676T>A (p.Leu1559His)
c.*117T>A (n.*117T>A)
c.3110T>A (p.Leu1037His)
n.5094T>A
n.4526+14005T>A
c.4667T>A (p.Leu1556His)
n.5110T>A
n.4856T>A
n.4542+14005T>A
2g.227008044G>ACA351140488COL4A4c.385C>T (p.Leu129Phe)
c.4783C>T (p.Leu1595Phe)
c.4228C>T (p.Leu1410Phe)
c.4594C>T (p.Leu1532Phe)
c.4216+14004C>T (n.4216+14004C>T)
c.4702C>T (p.Leu1568Phe)
c.4675C>T (p.Leu1559Phe)
c.*116C>T (n.*116C>T)
c.3109C>T (p.Leu1037Phe)
n.5093C>T
n.4526+14004C>T
c.4666C>T (p.Leu1556Phe)
n.5109C>T
n.4855C>T
n.4542+14004C>T
2g.227008044G>CCA351140489COL4A4c.385C>G (p.Leu129Val)
c.4783C>G (p.Leu1595Val)
c.4228C>G (p.Leu1410Val)
c.4594C>G (p.Leu1532Val)
c.4216+14004C>G (n.4216+14004C>G)
c.4702C>G (p.Leu1568Val)
c.4675C>G (p.Leu1559Val)
c.*116C>G (n.*116C>G)
c.3109C>G (p.Leu1037Val)
n.5093C>G
n.4526+14004C>G
c.4666C>G (p.Leu1556Val)
n.5109C>G
n.4855C>G
n.4542+14004C>G
2g.227008044G>TCA351140490COL4A4c.385C>A (p.Leu129Ile)
c.4783C>A (p.Leu1595Ile)
c.4228C>A (p.Leu1410Ile)
c.4594C>A (p.Leu1532Ile)
c.4216+14004C>A (n.4216+14004C>A)
c.4702C>A (p.Leu1568Ile)
c.4675C>A (p.Leu1559Ile)
c.*116C>A (n.*116C>A)
c.3109C>A (p.Leu1037Ile)
n.5093C>A
n.4526+14004C>A
c.4666C>A (p.Leu1556Ile)
n.5109C>A
n.4855C>A
n.4542+14004C>A
2g.227008045G>ACA2144069COL4A4c.384C>T (p.Ser128=)
c.4782C>T (p.Ser1594=)
c.4227C>T (p.Ser1409=)
c.4593C>T (p.Ser1531=)
c.4216+14003C>T (n.4216+14003C>T)
c.4701C>T (p.Ser1567=)
c.4674C>T (p.Ser1558=)
c.*115C>T (n.*115C>T)
c.3108C>T (p.Ser1036=)
n.5092C>T
n.4526+14003C>T
c.4665C>T (p.Ser1555=)
n.5108C>T
n.4854C>T
n.4542+14003C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008045G>CCA351140491COL4A4c.384C>G (p.Ser128Arg)
c.4782C>G (p.Ser1594Arg)
c.4227C>G (p.Ser1409Arg)
c.4593C>G (p.Ser1531Arg)
c.4216+14003C>G (n.4216+14003C>G)
c.4701C>G (p.Ser1567Arg)
c.4674C>G (p.Ser1558Arg)
c.*115C>G (n.*115C>G)
c.3108C>G (p.Ser1036Arg)
n.5092C>G
n.4526+14003C>G
c.4665C>G (p.Ser1555Arg)
n.5108C>G
n.4854C>G
n.4542+14003C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008045G=CA1332723874COL4A4c.384C= (p.Ser128=)
c.4782C= (p.Ser1594=)
c.4227C= (p.Ser1409=)
c.4593C= (p.Ser1531=)
c.4216+14003C= (n.4216+14003C=)
c.4701C= (p.Ser1567=)
c.4674C= (p.Ser1558=)
c.*115C= (n.*115C=)
c.3108C= (p.Ser1036=)
n.5092C=
n.4526+14003C=
c.4665C= (p.Ser1555=)
n.5108C=
n.4854C=
n.4542+14003C=
2g.227008045G>TCA351140492COL4A4c.384C>A (p.Ser128Arg)
c.4782C>A (p.Ser1594Arg)
c.4227C>A (p.Ser1409Arg)
c.4593C>A (p.Ser1531Arg)
c.4216+14003C>A (n.4216+14003C>A)
c.4701C>A (p.Ser1567Arg)
c.4674C>A (p.Ser1558Arg)
c.*115C>A (n.*115C>A)
c.3108C>A (p.Ser1036Arg)
n.5092C>A
n.4526+14003C>A
c.4665C>A (p.Ser1555Arg)
n.5108C>A
n.4854C>A
n.4542+14003C>A
 dbSNP gnomAD v3 gnomAD v4
2g.227008046C>ACA351140493COL4A4c.383G>T (p.Ser128Ile)
c.4781G>T (p.Ser1594Ile)
c.4226G>T (p.Ser1409Ile)
c.4592G>T (p.Ser1531Ile)
c.4216+14002G>T (n.4216+14002G>T)
c.4700G>T (p.Ser1567Ile)
c.4673G>T (p.Ser1558Ile)
c.*114G>T (n.*114G>T)
c.3107G>T (p.Ser1036Ile)
n.5091G>T
n.4526+14002G>T
c.4664G>T (p.Ser1555Ile)
n.5107G>T
n.4853G>T
n.4542+14002G>T
2g.227008046C>GCA351140494COL4A4c.383G>C (p.Ser128Thr)
c.4781G>C (p.Ser1594Thr)
c.4226G>C (p.Ser1409Thr)
c.4592G>C (p.Ser1531Thr)
c.4216+14002G>C (n.4216+14002G>C)
c.4700G>C (p.Ser1567Thr)
c.4673G>C (p.Ser1558Thr)
c.*114G>C (n.*114G>C)
c.3107G>C (p.Ser1036Thr)
n.5091G>C
n.4526+14002G>C
c.4664G>C (p.Ser1555Thr)
n.5107G>C
n.4853G>C
n.4542+14002G>C
2g.227008046C>TCA351140495COL4A4c.383G>A (p.Ser128Asn)
c.4781G>A (p.Ser1594Asn)
c.4226G>A (p.Ser1409Asn)
c.4592G>A (p.Ser1531Asn)
c.4216+14002G>A (n.4216+14002G>A)
c.4700G>A (p.Ser1567Asn)
c.4673G>A (p.Ser1558Asn)
c.*114G>A (n.*114G>A)
c.3107G>A (p.Ser1036Asn)
n.5091G>A
n.4526+14002G>A
c.4664G>A (p.Ser1555Asn)
n.5107G>A
n.4853G>A
n.4542+14002G>A
2g.227008047T>ACA351140496COL4A4c.382A>T (p.Ser128Cys)
c.4780A>T (p.Ser1594Cys)
c.4225A>T (p.Ser1409Cys)
c.4591A>T (p.Ser1531Cys)
c.4216+14001A>T (n.4216+14001A>T)
c.4699A>T (p.Ser1567Cys)
c.4672A>T (p.Ser1558Cys)
c.*113A>T (n.*113A>T)
c.3106A>T (p.Ser1036Cys)
n.5090A>T
n.4526+14001A>T
c.4663A>T (p.Ser1555Cys)
n.5106A>T
n.4852A>T
n.4542+14001A>T
2g.227008047T>CCA351140497COL4A4c.382A>G (p.Ser128Gly)
c.4780A>G (p.Ser1594Gly)
c.4225A>G (p.Ser1409Gly)
c.4591A>G (p.Ser1531Gly)
c.4216+14001A>G (n.4216+14001A>G)
c.4699A>G (p.Ser1567Gly)
c.4672A>G (p.Ser1558Gly)
c.*113A>G (n.*113A>G)
c.3106A>G (p.Ser1036Gly)
n.5090A>G
n.4526+14001A>G
c.4663A>G (p.Ser1555Gly)
n.5106A>G
n.4852A>G
n.4542+14001A>G
 gnomAD v4
2g.227008047T>GCA351140498COL4A4c.382A>C (p.Ser128Arg)
c.4780A>C (p.Ser1594Arg)
c.4225A>C (p.Ser1409Arg)
c.4591A>C (p.Ser1531Arg)
c.4216+14001A>C (n.4216+14001A>C)
c.4699A>C (p.Ser1567Arg)
c.4672A>C (p.Ser1558Arg)
c.*113A>C (n.*113A>C)
c.3106A>C (p.Ser1036Arg)
n.5090A>C
n.4526+14001A>C
c.4663A>C (p.Ser1555Arg)
n.5106A>C
n.4852A>C
n.4542+14001A>C
2g.227008048C>ACA351140500COL4A4c.381G>T (p.Arg127Ser)
c.4779G>T (p.Arg1593Ser)
c.4224G>T (p.Arg1408Ser)
c.4590G>T (p.Arg1530Ser)
c.4216+14000G>T (n.4216+14000G>T)
c.4698G>T (p.Arg1566Ser)
c.4671G>T (p.Arg1557Ser)
c.*112G>T (n.*112G>T)
c.3105G>T (p.Arg1035Ser)
n.5089G>T
n.4526+14000G>T
c.4662G>T (p.Arg1554Ser)
n.5105G>T
n.4851G>T
n.4542+14000G>T
2g.227008048C=CA1332723875COL4A4c.381G= (p.Arg127=)
c.4779G= (p.Arg1593=)
c.4224G= (p.Arg1408=)
c.4590G= (p.Arg1530=)
c.4216+14000G= (n.4216+14000G=)
c.4698G= (p.Arg1566=)
c.4671G= (p.Arg1557=)
c.*112G= (n.*112G=)
c.3105G= (p.Arg1035=)
n.5089G=
n.4526+14000G=
c.4662G= (p.Arg1554=)
n.5105G=
n.4851G=
n.4542+14000G=
2g.227008048C>GCA351140499COL4A4c.381G>C (p.Arg127Ser)
c.4779G>C (p.Arg1593Ser)
c.4224G>C (p.Arg1408Ser)
c.4590G>C (p.Arg1530Ser)
c.4216+14000G>C (n.4216+14000G>C)
c.4698G>C (p.Arg1566Ser)
c.4671G>C (p.Arg1557Ser)
c.*112G>C (n.*112G>C)
c.3105G>C (p.Arg1035Ser)
n.5089G>C
n.4526+14000G>C
c.4662G>C (p.Arg1554Ser)
n.5105G>C
n.4851G>C
n.4542+14000G>C
2g.227008048C>TCA2144070COL4A4c.381G>A (p.Arg127=)
c.4779G>A (p.Arg1593=)
c.4224G>A (p.Arg1408=)
c.4590G>A (p.Arg1530=)
c.4216+14000G>A (n.4216+14000G>A)
c.4698G>A (p.Arg1566=)
c.4671G>A (p.Arg1557=)
c.*112G>A (n.*112G>A)
c.3105G>A (p.Arg1035=)
n.5089G>A
n.4526+14000G>A
c.4662G>A (p.Arg1554=)
n.5105G>A
n.4851G>A
n.4542+14000G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008049C>ACA351140501COL4A4c.380G>T (p.Arg127Met)
c.4778G>T (p.Arg1593Met)
c.4223G>T (p.Arg1408Met)
c.4589G>T (p.Arg1530Met)
c.4216+13999G>T (n.4216+13999G>T)
c.4697G>T (p.Arg1566Met)
c.4670G>T (p.Arg1557Met)
c.*111G>T (n.*111G>T)
c.3104G>T (p.Arg1035Met)
n.5088G>T
n.4526+13999G>T
c.4661G>T (p.Arg1554Met)
n.5104G>T
n.4850G>T
n.4542+13999G>T
2g.227008049C=CA1332723876COL4A4c.380G= (p.Arg127=)
c.4778G= (p.Arg1593=)
c.4223G= (p.Arg1408=)
c.4589G= (p.Arg1530=)
c.4216+13999G= (n.4216+13999G=)
c.4697G= (p.Arg1566=)
c.4670G= (p.Arg1557=)
c.*111G= (n.*111G=)
c.3104G= (p.Arg1035=)
n.5088G=
n.4526+13999G=
c.4661G= (p.Arg1554=)
n.5104G=
n.4850G=
n.4542+13999G=
2g.227008049C>GCA351140502COL4A4c.380G>C (p.Arg127Thr)
c.4778G>C (p.Arg1593Thr)
c.4223G>C (p.Arg1408Thr)
c.4589G>C (p.Arg1530Thr)
c.4216+13999G>C (n.4216+13999G>C)
c.4697G>C (p.Arg1566Thr)
c.4670G>C (p.Arg1557Thr)
c.*111G>C (n.*111G>C)
c.3104G>C (p.Arg1035Thr)
n.5088G>C
n.4526+13999G>C
c.4661G>C (p.Arg1554Thr)
n.5104G>C
n.4850G>C
n.4542+13999G>C
2g.227008049C>TCA67238291COL4A4c.380G>A (p.Arg127Lys)
c.4778G>A (p.Arg1593Lys)
c.4223G>A (p.Arg1408Lys)
c.4589G>A (p.Arg1530Lys)
c.4216+13999G>A (n.4216+13999G>A)
c.4697G>A (p.Arg1566Lys)
c.4670G>A (p.Arg1557Lys)
c.*111G>A (n.*111G>A)
c.3104G>A (p.Arg1035Lys)
n.5088G>A
n.4526+13999G>A
c.4661G>A (p.Arg1554Lys)
n.5104G>A
n.4850G>A
n.4542+13999G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008050T>ACA351140503COL4A4c.379A>T (p.Arg127Trp)
c.4777A>T (p.Arg1593Trp)
c.4222A>T (p.Arg1408Trp)
c.4588A>T (p.Arg1530Trp)
c.4216+13998A>T (n.4216+13998A>T)
c.4696A>T (p.Arg1566Trp)
c.4669A>T (p.Arg1557Trp)
c.*110A>T (n.*110A>T)
c.3103A>T (p.Arg1035Trp)
n.5087A>T
n.4526+13998A>T
c.4660A>T (p.Arg1554Trp)
n.5103A>T
n.4849A>T
n.4542+13998A>T
2g.227008050T>CCA351140504COL4A4c.379A>G (p.Arg127Gly)
c.4777A>G (p.Arg1593Gly)
c.4222A>G (p.Arg1408Gly)
c.4588A>G (p.Arg1530Gly)
c.4216+13998A>G (n.4216+13998A>G)
c.4696A>G (p.Arg1566Gly)
c.4669A>G (p.Arg1557Gly)
c.*110A>G (n.*110A>G)
c.3103A>G (p.Arg1035Gly)
n.5087A>G
n.4526+13998A>G
c.4660A>G (p.Arg1554Gly)
n.5103A>G
n.4849A>G
n.4542+13998A>G
2g.227008050T>GCA2144071COL4A4c.379A>C (p.Arg127=)
c.4777A>C (p.Arg1593=)
c.4222A>C (p.Arg1408=)
c.4588A>C (p.Arg1530=)
c.4216+13998A>C (n.4216+13998A>C)
c.4696A>C (p.Arg1566=)
c.4669A>C (p.Arg1557=)
c.*110A>C (n.*110A>C)
c.3103A>C (p.Arg1035=)
n.5087A>C
n.4526+13998A>C
c.4660A>C (p.Arg1554=)
n.5103A>C
n.4849A>C
n.4542+13998A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008050T=CA1332723877COL4A4c.379A= (p.Arg127=)
c.4777A= (p.Arg1593=)
c.4222A= (p.Arg1408=)
c.4588A= (p.Arg1530=)
c.4216+13998A= (n.4216+13998A=)
c.4696A= (p.Arg1566=)
c.4669A= (p.Arg1557=)
c.*110A= (n.*110A=)
c.3103A= (p.Arg1035=)
n.5087A=
n.4526+13998A=
c.4660A= (p.Arg1554=)
n.5103A=
n.4849A=
n.4542+13998A=
2g.227008051C>ACA351140505COL4A4c.378G>T (p.Trp126Cys)
c.4776G>T (p.Trp1592Cys)
c.4221G>T (p.Trp1407Cys)
c.4587G>T (p.Trp1529Cys)
c.4216+13997G>T (n.4216+13997G>T)
c.4695G>T (p.Trp1565Cys)
c.4668G>T (p.Trp1556Cys)
c.*109G>T (n.*109G>T)
c.3102G>T (p.Trp1034Cys)
n.5086G>T
n.4526+13997G>T
c.4659G>T (p.Trp1553Cys)
n.5102G>T
n.4848G>T
n.4542+13997G>T
2g.227008051C>GCA351140506COL4A4c.378G>C (p.Trp126Cys)
c.4776G>C (p.Trp1592Cys)
c.4221G>C (p.Trp1407Cys)
c.4587G>C (p.Trp1529Cys)
c.4216+13997G>C (n.4216+13997G>C)
c.4695G>C (p.Trp1565Cys)
c.4668G>C (p.Trp1556Cys)
c.*109G>C (n.*109G>C)
c.3102G>C (p.Trp1034Cys)
n.5086G>C
n.4526+13997G>C
c.4659G>C (p.Trp1553Cys)
n.5102G>C
n.4848G>C
n.4542+13997G>C
2g.227008051C>TCA351140507COL4A4c.378G>A (p.Trp126Ter)
c.4776G>A (p.Trp1592Ter)
c.4221G>A (p.Trp1407Ter)
c.4587G>A (p.Trp1529Ter)
c.4216+13997G>A (n.4216+13997G>A)
c.4695G>A (p.Trp1565Ter)
c.4668G>A (p.Trp1556Ter)
c.*109G>A (n.*109G>A)
c.3102G>A (p.Trp1034Ter)
n.5086G>A
n.4526+13997G>A
c.4659G>A (p.Trp1553Ter)
n.5102G>A
n.4848G>A
n.4542+13997G>A
 ClinVar
2g.227008052C>ACA351140508COL4A4c.377G>T (p.Trp126Leu)
c.4775G>T (p.Trp1592Leu)
c.4220G>T (p.Trp1407Leu)
c.4586G>T (p.Trp1529Leu)
c.4216+13996G>T (n.4216+13996G>T)
c.4694G>T (p.Trp1565Leu)
c.4667G>T (p.Trp1556Leu)
c.*108G>T (n.*108G>T)
c.3101G>T (p.Trp1034Leu)
n.5085G>T
n.4526+13996G>T
c.4658G>T (p.Trp1553Leu)
n.5101G>T
n.4847G>T
n.4542+13996G>T
2g.227008052C>GCA351140509COL4A4c.377G>C (p.Trp126Ser)
c.4775G>C (p.Trp1592Ser)
c.4220G>C (p.Trp1407Ser)
c.4586G>C (p.Trp1529Ser)
c.4216+13996G>C (n.4216+13996G>C)
c.4694G>C (p.Trp1565Ser)
c.4667G>C (p.Trp1556Ser)
c.*108G>C (n.*108G>C)
c.3101G>C (p.Trp1034Ser)
n.5085G>C
n.4526+13996G>C
c.4658G>C (p.Trp1553Ser)
n.5101G>C
n.4847G>C
n.4542+13996G>C
2g.227008052C>TCA351140510COL4A4c.377G>A (p.Trp126Ter)
c.4775G>A (p.Trp1592Ter)
c.4220G>A (p.Trp1407Ter)
c.4586G>A (p.Trp1529Ter)
c.4216+13996G>A (n.4216+13996G>A)
c.4694G>A (p.Trp1565Ter)
c.4667G>A (p.Trp1556Ter)
c.*108G>A (n.*108G>A)
c.3101G>A (p.Trp1034Ter)
n.5085G>A
n.4526+13996G>A
c.4658G>A (p.Trp1553Ter)
n.5101G>A
n.4847G>A
n.4542+13996G>A
2g.227008053A=CA1332723878COL4A4c.376T= (p.Trp126=)
c.4774T= (p.Trp1592=)
c.4219T= (p.Trp1407=)
c.4585T= (p.Trp1529=)
c.4216+13995T= (n.4216+13995T=)
c.4693T= (p.Trp1565=)
c.4666T= (p.Trp1556=)
c.*107T= (n.*107T=)
c.3100T= (p.Trp1034=)
n.5084T=
n.4526+13995T=
c.4657T= (p.Trp1553=)
n.5100T=
n.4846T=
n.4542+13995T=
2g.227008053A>CCA351140512COL4A4c.376T>G (p.Trp126Gly)
c.4774T>G (p.Trp1592Gly)
c.4219T>G (p.Trp1407Gly)
c.4585T>G (p.Trp1529Gly)
c.4216+13995T>G (n.4216+13995T>G)
c.4693T>G (p.Trp1565Gly)
c.4666T>G (p.Trp1556Gly)
c.*107T>G (n.*107T>G)
c.3100T>G (p.Trp1034Gly)
n.5084T>G
n.4526+13995T>G
c.4657T>G (p.Trp1553Gly)
n.5100T>G
n.4846T>G
n.4542+13995T>G
2g.227008053A>GCA2144072COL4A4c.376T>C (p.Trp126Arg)
c.4774T>C (p.Trp1592Arg)
c.4219T>C (p.Trp1407Arg)
c.4585T>C (p.Trp1529Arg)
c.4216+13995T>C (n.4216+13995T>C)
c.4693T>C (p.Trp1565Arg)
c.4666T>C (p.Trp1556Arg)
c.*107T>C (n.*107T>C)
c.3100T>C (p.Trp1034Arg)
n.5084T>C
n.4526+13995T>C
c.4657T>C (p.Trp1553Arg)
n.5100T>C
n.4846T>C
n.4542+13995T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008053A>TCA351140511COL4A4c.376T>A (p.Trp126Arg)
c.4774T>A (p.Trp1592Arg)
c.4219T>A (p.Trp1407Arg)
c.4585T>A (p.Trp1529Arg)
c.4216+13995T>A (n.4216+13995T>A)
c.4693T>A (p.Trp1565Arg)
c.4666T>A (p.Trp1556Arg)
c.*107T>A (n.*107T>A)
c.3100T>A (p.Trp1034Arg)
n.5084T>A
n.4526+13995T>A
c.4657T>A (p.Trp1553Arg)
n.5100T>A
n.4846T>A
n.4542+13995T>A
2g.227008054G>ACA431672069COL4A4c.375C>T (p.Thr125=)
c.4773C>T (p.Thr1591=)
c.4218C>T (p.Thr1406=)
c.4584C>T (p.Thr1528=)
c.4216+13994C>T (n.4216+13994C>T)
c.4692C>T (p.Thr1564=)
c.4665C>T (p.Thr1555=)
c.*106C>T (n.*106C>T)
c.3099C>T (p.Thr1033=)
n.5083C>T
n.4526+13994C>T
c.4656C>T (p.Thr1552=)
n.5099C>T
n.4845C>T
n.4542+13994C>T
2g.227008054G>CCA431672071COL4A4c.375C>G (p.Thr125=)
c.4773C>G (p.Thr1591=)
c.4218C>G (p.Thr1406=)
c.4584C>G (p.Thr1528=)
c.4216+13994C>G (n.4216+13994C>G)
c.4692C>G (p.Thr1564=)
c.4665C>G (p.Thr1555=)
c.*106C>G (n.*106C>G)
c.3099C>G (p.Thr1033=)
n.5083C>G
n.4526+13994C>G
c.4656C>G (p.Thr1552=)
n.5099C>G
n.4845C>G
n.4542+13994C>G
2g.227008054G>TCA431672073COL4A4c.375C>A (p.Thr125=)
c.4773C>A (p.Thr1591=)
c.4218C>A (p.Thr1406=)
c.4584C>A (p.Thr1528=)
c.4216+13994C>A (n.4216+13994C>A)
c.4692C>A (p.Thr1564=)
c.4665C>A (p.Thr1555=)
c.*106C>A (n.*106C>A)
c.3099C>A (p.Thr1033=)
n.5083C>A
n.4526+13994C>A
c.4656C>A (p.Thr1552=)
n.5099C>A
n.4845C>A
n.4542+13994C>A
2g.227008055G>ACA351140513COL4A4c.374C>T (p.Thr125Ile)
c.4772C>T (p.Thr1591Ile)
c.4217C>T (p.Thr1406Ile)
c.4583C>T (p.Thr1528Ile)
c.4216+13993C>T (n.4216+13993C>T)
c.4691C>T (p.Thr1564Ile)
c.4664C>T (p.Thr1555Ile)
c.*105C>T (n.*105C>T)
c.3098C>T (p.Thr1033Ile)
n.5082C>T
n.4526+13993C>T
c.4655C>T (p.Thr1552Ile)
n.5098C>T
n.4844C>T
n.4542+13993C>T
 dbSNP gnomAD v3 gnomAD v4
2g.227008055G>CCA351140514COL4A4c.374C>G (p.Thr125Ser)
c.4772C>G (p.Thr1591Ser)
c.4217C>G (p.Thr1406Ser)
c.4583C>G (p.Thr1528Ser)
c.4216+13993C>G (n.4216+13993C>G)
c.4691C>G (p.Thr1564Ser)
c.4664C>G (p.Thr1555Ser)
c.*105C>G (n.*105C>G)
c.3098C>G (p.Thr1033Ser)
n.5082C>G
n.4526+13993C>G
c.4655C>G (p.Thr1552Ser)
n.5098C>G
n.4844C>G
n.4542+13993C>G
2g.227008055G=CA1332723879COL4A4c.374C= (p.Thr125=)
c.4772C= (p.Thr1591=)
c.4217C= (p.Thr1406=)
c.4583C= (p.Thr1528=)
c.4216+13993C= (n.4216+13993C=)
c.4691C= (p.Thr1564=)
c.4664C= (p.Thr1555=)
c.*105C= (n.*105C=)
c.3098C= (p.Thr1033=)
n.5082C=
n.4526+13993C=
c.4655C= (p.Thr1552=)
n.5098C=
n.4844C=
n.4542+13993C=
2g.227008055G>TCA351140515COL4A4c.374C>A (p.Thr125Asn)
c.4772C>A (p.Thr1591Asn)
c.4217C>A (p.Thr1406Asn)
c.4583C>A (p.Thr1528Asn)
c.4216+13993C>A (n.4216+13993C>A)
c.4691C>A (p.Thr1564Asn)
c.4664C>A (p.Thr1555Asn)
c.*105C>A (n.*105C>A)
c.3098C>A (p.Thr1033Asn)
n.5082C>A
n.4526+13993C>A
c.4655C>A (p.Thr1552Asn)
n.5098C>A
n.4844C>A
n.4542+13993C>A
2g.227008056T>ACA351140516COL4A4c.373A>T (p.Thr125Ser)
c.4771A>T (p.Thr1591Ser)
c.4216A>T (p.Thr1406Ser)
c.4582A>T (p.Thr1528Ser)
c.4216+13992A>T (n.4216+13992A>T)
c.4690A>T (p.Thr1564Ser)
c.4663A>T (p.Thr1555Ser)
c.*104A>T (n.*104A>T)
c.3097A>T (p.Thr1033Ser)
n.5081A>T
n.4526+13992A>T
c.4654A>T (p.Thr1552Ser)
n.5097A>T
n.4843A>T
n.4542+13992A>T
2g.227008056T>CCA351140517COL4A4c.373A>G (p.Thr125Ala)
c.4771A>G (p.Thr1591Ala)
c.4216A>G (p.Thr1406Ala)
c.4582A>G (p.Thr1528Ala)
c.4216+13992A>G (n.4216+13992A>G)
c.4690A>G (p.Thr1564Ala)
c.4663A>G (p.Thr1555Ala)
c.*104A>G (n.*104A>G)
c.3097A>G (p.Thr1033Ala)
n.5081A>G
n.4526+13992A>G
c.4654A>G (p.Thr1552Ala)
n.5097A>G
n.4843A>G
n.4542+13992A>G
2g.227008056T>GCA351140518COL4A4c.373A>C (p.Thr125Pro)
c.4771A>C (p.Thr1591Pro)
c.4216A>C (p.Thr1406Pro)
c.4582A>C (p.Thr1528Pro)
c.4216+13992A>C (n.4216+13992A>C)
c.4690A>C (p.Thr1564Pro)
c.4663A>C (p.Thr1555Pro)
c.*104A>C (n.*104A>C)
c.3097A>C (p.Thr1033Pro)
n.5081A>C
n.4526+13992A>C
c.4654A>C (p.Thr1552Pro)
n.5097A>C
n.4843A>C
n.4542+13992A>C
2g.227008057C>ACA351140519COL4A4c.372G>T (p.Gln124His)
c.4770G>T (p.Gln1590His)
c.4215G>T (p.Gln1405His)
c.4581G>T (p.Gln1527His)
c.4216+13991G>T (n.4216+13991G>T)
c.4689G>T (p.Gln1563His)
c.4662G>T (p.Gln1554His)
c.*103G>T (n.*103G>T)
c.3096G>T (p.Gln1032His)
n.5080G>T
n.4526+13991G>T
c.4653G>T (p.Gln1551His)
n.5096G>T
n.4842G>T
n.4542+13991G>T
2g.227008057C>GCA351140520COL4A4c.372G>C (p.Gln124His)
c.4770G>C (p.Gln1590His)
c.4215G>C (p.Gln1405His)
c.4581G>C (p.Gln1527His)
c.4216+13991G>C (n.4216+13991G>C)
c.4689G>C (p.Gln1563His)
c.4662G>C (p.Gln1554His)
c.*103G>C (n.*103G>C)
c.3096G>C (p.Gln1032His)
n.5080G>C
n.4526+13991G>C
c.4653G>C (p.Gln1551His)
n.5096G>C
n.4842G>C
n.4542+13991G>C
2g.227008057C>TCA431672074COL4A4c.372G>A (p.Gln124=)
c.4770G>A (p.Gln1590=)
c.4215G>A (p.Gln1405=)
c.4581G>A (p.Gln1527=)
c.4216+13991G>A (n.4216+13991G>A)
c.4689G>A (p.Gln1563=)
c.4662G>A (p.Gln1554=)
c.*103G>A (n.*103G>A)
c.3096G>A (p.Gln1032=)
n.5080G>A
n.4526+13991G>A
c.4653G>A (p.Gln1551=)
n.5096G>A
n.4842G>A
n.4542+13991G>A
2g.227008058T>ACA351140521COL4A4c.371A>T (p.Gln124Leu)
c.4769A>T (p.Gln1590Leu)
c.4214A>T (p.Gln1405Leu)
c.4580A>T (p.Gln1527Leu)
c.4216+13990A>T (n.4216+13990A>T)
c.4688A>T (p.Gln1563Leu)
c.4661A>T (p.Gln1554Leu)
c.*102A>T (n.*102A>T)
c.3095A>T (p.Gln1032Leu)
n.5079A>T
n.4526+13990A>T
c.4652A>T (p.Gln1551Leu)
n.5095A>T
n.4841A>T
n.4542+13990A>T
 gnomAD v4
2g.227008058T>CCA351140522COL4A4c.371A>G (p.Gln124Arg)
c.4769A>G (p.Gln1590Arg)
c.4214A>G (p.Gln1405Arg)
c.4580A>G (p.Gln1527Arg)
c.4216+13990A>G (n.4216+13990A>G)
c.4688A>G (p.Gln1563Arg)
c.4661A>G (p.Gln1554Arg)
c.*102A>G (n.*102A>G)
c.3095A>G (p.Gln1032Arg)
n.5079A>G
n.4526+13990A>G
c.4652A>G (p.Gln1551Arg)
n.5095A>G
n.4841A>G
n.4542+13990A>G
2g.227008058T>GCA351140523COL4A4c.371A>C (p.Gln124Pro)
c.4769A>C (p.Gln1590Pro)
c.4214A>C (p.Gln1405Pro)
c.4580A>C (p.Gln1527Pro)
c.4216+13990A>C (n.4216+13990A>C)
c.4688A>C (p.Gln1563Pro)
c.4661A>C (p.Gln1554Pro)
c.*102A>C (n.*102A>C)
c.3095A>C (p.Gln1032Pro)
n.5079A>C
n.4526+13990A>C
c.4652A>C (p.Gln1551Pro)
n.5095A>C
n.4841A>C
n.4542+13990A>C
2g.227008059G>ACA351140524COL4A4c.370C>T (p.Gln124Ter)
c.4768C>T (p.Gln1590Ter)
c.4213C>T (p.Gln1405Ter)
c.4579C>T (p.Gln1527Ter)
c.4216+13989C>T (n.4216+13989C>T)
c.4687C>T (p.Gln1563Ter)
c.4660C>T (p.Gln1554Ter)
c.*101C>T (n.*101C>T)
c.3094C>T (p.Gln1032Ter)
n.5078C>T
n.4526+13989C>T
c.4651C>T (p.Gln1551Ter)
n.5094C>T
n.4840C>T
n.4542+13989C>T
 ClinVar dbSNP
2g.227008059G>CCA351140525COL4A4c.370C>G (p.Gln124Glu)
c.4768C>G (p.Gln1590Glu)
c.4213C>G (p.Gln1405Glu)
c.4579C>G (p.Gln1527Glu)
c.4216+13989C>G (n.4216+13989C>G)
c.4687C>G (p.Gln1563Glu)
c.4660C>G (p.Gln1554Glu)
c.*101C>G (n.*101C>G)
c.3094C>G (p.Gln1032Glu)
n.5078C>G
n.4526+13989C>G
c.4651C>G (p.Gln1551Glu)
n.5094C>G
n.4840C>G
n.4542+13989C>G
2g.227008059G=CA1332723880COL4A4c.370C= (p.Gln124=)
c.4768C= (p.Gln1590=)
c.4213C= (p.Gln1405=)
c.4579C= (p.Gln1527=)
c.4216+13989C= (n.4216+13989C=)
c.4687C= (p.Gln1563=)
c.4660C= (p.Gln1554=)
c.*101C= (n.*101C=)
c.3094C= (p.Gln1032=)
n.5078C=
n.4526+13989C=
c.4651C= (p.Gln1551=)
n.5094C=
n.4840C=
n.4542+13989C=
2g.227008059G>TCA351140526COL4A4c.370C>A (p.Gln124Lys)
c.4768C>A (p.Gln1590Lys)
c.4213C>A (p.Gln1405Lys)
c.4579C>A (p.Gln1527Lys)
c.4216+13989C>A (n.4216+13989C>A)
c.4687C>A (p.Gln1563Lys)
c.4660C>A (p.Gln1554Lys)
c.*101C>A (n.*101C>A)
c.3094C>A (p.Gln1032Lys)
n.5078C>A
n.4526+13989C>A
c.4651C>A (p.Gln1551Lys)
n.5094C>A
n.4840C>A
n.4542+13989C>A
2g.227008060C>ACA431672076COL4A4c.369G>T (p.Pro123=)
c.4767G>T (p.Pro1589=)
c.4212G>T (p.Pro1404=)
c.4578G>T (p.Pro1526=)
c.4216+13988G>T (n.4216+13988G>T)
c.4686G>T (p.Pro1562=)
c.4659G>T (p.Pro1553=)
c.*100G>T (n.*100G>T)
c.3093G>T (p.Pro1031=)
n.5077G>T
n.4526+13988G>T
c.4650G>T (p.Pro1550=)
n.5093G>T
n.4839G>T
n.4542+13988G>T
2g.227008060C=CA1332723881COL4A4c.369G= (p.Pro123=)
c.4767G= (p.Pro1589=)
c.4212G= (p.Pro1404=)
c.4578G= (p.Pro1526=)
c.4216+13988G= (n.4216+13988G=)
c.4686G= (p.Pro1562=)
c.4659G= (p.Pro1553=)
c.*100G= (n.*100G=)
c.3093G= (p.Pro1031=)
n.5077G=
n.4526+13988G=
c.4650G= (p.Pro1550=)
n.5093G=
n.4839G=
n.4542+13988G=
2g.227008060C>GCA431672077COL4A4c.369G>C (p.Pro123=)
c.4767G>C (p.Pro1589=)
c.4212G>C (p.Pro1404=)
c.4578G>C (p.Pro1526=)
c.4216+13988G>C (n.4216+13988G>C)
c.4686G>C (p.Pro1562=)
c.4659G>C (p.Pro1553=)
c.*100G>C (n.*100G>C)
c.3093G>C (p.Pro1031=)
n.5077G>C
n.4526+13988G>C
c.4650G>C (p.Pro1550=)
n.5093G>C
n.4839G>C
n.4542+13988G>C
2g.227008060C>TCA2144073COL4A4c.369G>A (p.Pro123=)
c.4767G>A (p.Pro1589=)
c.4212G>A (p.Pro1404=)
c.4578G>A (p.Pro1526=)
c.4216+13988G>A (n.4216+13988G>A)
c.4686G>A (p.Pro1562=)
c.4659G>A (p.Pro1553=)
c.*100G>A (n.*100G>A)
c.3093G>A (p.Pro1031=)
n.5077G>A
n.4526+13988G>A
c.4650G>A (p.Pro1550=)
n.5093G>A
n.4839G>A
n.4542+13988G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008061G>ACA2144074COL4A4c.368C>T (p.Pro123Leu)
c.4766C>T (p.Pro1589Leu)
c.4211C>T (p.Pro1404Leu)
c.4577C>T (p.Pro1526Leu)
c.4216+13987C>T (n.4216+13987C>T)
c.4685C>T (p.Pro1562Leu)
c.4658C>T (p.Pro1553Leu)
c.*99C>T (n.*99C>T)
c.3092C>T (p.Pro1031Leu)
n.5076C>T
n.4526+13987C>T
c.4649C>T (p.Pro1550Leu)
n.5092C>T
n.4838C>T
n.4542+13987C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008061G>CCA351140527COL4A4c.368C>G (p.Pro123Arg)
c.4766C>G (p.Pro1589Arg)
c.4211C>G (p.Pro1404Arg)
c.4577C>G (p.Pro1526Arg)
c.4216+13987C>G (n.4216+13987C>G)
c.4685C>G (p.Pro1562Arg)
c.4658C>G (p.Pro1553Arg)
c.*99C>G (n.*99C>G)
c.3092C>G (p.Pro1031Arg)
n.5076C>G
n.4526+13987C>G
c.4649C>G (p.Pro1550Arg)
n.5092C>G
n.4838C>G
n.4542+13987C>G
2g.227008061G=CA1332723882COL4A4c.368C= (p.Pro123=)
c.4766C= (p.Pro1589=)
c.4211C= (p.Pro1404=)
c.4577C= (p.Pro1526=)
c.4216+13987C= (n.4216+13987C=)
c.4685C= (p.Pro1562=)
c.4658C= (p.Pro1553=)
c.*99C= (n.*99C=)
c.3092C= (p.Pro1031=)
n.5076C=
n.4526+13987C=
c.4649C= (p.Pro1550=)
n.5092C=
n.4838C=
n.4542+13987C=
2g.227008061G>TCA351140528COL4A4c.368C>A (p.Pro123Gln)
c.4766C>A (p.Pro1589Gln)
c.4211C>A (p.Pro1404Gln)
c.4577C>A (p.Pro1526Gln)
c.4216+13987C>A (n.4216+13987C>A)
c.4685C>A (p.Pro1562Gln)
c.4658C>A (p.Pro1553Gln)
c.*99C>A (n.*99C>A)
c.3092C>A (p.Pro1031Gln)
n.5076C>A
n.4526+13987C>A
c.4649C>A (p.Pro1550Gln)
n.5092C>A
n.4838C>A
n.4542+13987C>A
2g.227008062G>ACA351140529COL4A4c.367C>T (p.Pro123Ser)
c.4765C>T (p.Pro1589Ser)
c.4210C>T (p.Pro1404Ser)
c.4576C>T (p.Pro1526Ser)
c.4216+13986C>T (n.4216+13986C>T)
c.4684C>T (p.Pro1562Ser)
c.4657C>T (p.Pro1553Ser)
c.*98C>T (n.*98C>T)
c.3091C>T (p.Pro1031Ser)
n.5075C>T
n.4526+13986C>T
c.4648C>T (p.Pro1550Ser)
n.5091C>T
n.4837C>T
n.4542+13986C>T
 gnomAD v4
2g.227008062G>CCA351140530COL4A4c.367C>G (p.Pro123Ala)
c.4765C>G (p.Pro1589Ala)
c.4210C>G (p.Pro1404Ala)
c.4576C>G (p.Pro1526Ala)
c.4216+13986C>G (n.4216+13986C>G)
c.4684C>G (p.Pro1562Ala)
c.4657C>G (p.Pro1553Ala)
c.*98C>G (n.*98C>G)
c.3091C>G (p.Pro1031Ala)
n.5075C>G
n.4526+13986C>G
c.4648C>G (p.Pro1550Ala)
n.5091C>G
n.4837C>G
n.4542+13986C>G
2g.227008062G>TCA351140531COL4A4c.367C>A (p.Pro123Thr)
c.4765C>A (p.Pro1589Thr)
c.4210C>A (p.Pro1404Thr)
c.4576C>A (p.Pro1526Thr)
c.4216+13986C>A (n.4216+13986C>A)
c.4684C>A (p.Pro1562Thr)
c.4657C>A (p.Pro1553Thr)
c.*98C>A (n.*98C>A)
c.3091C>A (p.Pro1031Thr)
n.5075C>A
n.4526+13986C>A
c.4648C>A (p.Pro1550Thr)
n.5091C>A
n.4837C>A
n.4542+13986C>A
2g.227008063A=CA1332723883COL4A4c.366T= (p.Cys122=)
c.4764T= (p.Cys1588=)
c.4209T= (p.Cys1403=)
c.4575T= (p.Cys1525=)
c.4216+13985T= (n.4216+13985T=)
c.4683T= (p.Cys1561=)
c.4656T= (p.Cys1552=)
c.*97T= (n.*97T=)
c.3090T= (p.Cys1030=)
n.5074T=
n.4526+13985T=
c.4647T= (p.Cys1549=)
n.5090T=
n.4836T=
n.4542+13985T=
2g.227008063A>CCA351140532COL4A4c.366T>G (p.Cys122Trp)
c.4764T>G (p.Cys1588Trp)
c.4209T>G (p.Cys1403Trp)
c.4575T>G (p.Cys1525Trp)
c.4216+13985T>G (n.4216+13985T>G)
c.4683T>G (p.Cys1561Trp)
c.4656T>G (p.Cys1552Trp)
c.*97T>G (n.*97T>G)
c.3090T>G (p.Cys1030Trp)
n.5074T>G
n.4526+13985T>G
c.4647T>G (p.Cys1549Trp)
n.5090T>G
n.4836T>G
n.4542+13985T>G
 ClinVar
2g.227008063A>GCA431672078COL4A4c.366T>C (p.Cys122=)
c.4764T>C (p.Cys1588=)
c.4209T>C (p.Cys1403=)
c.4575T>C (p.Cys1525=)
c.4216+13985T>C (n.4216+13985T>C)
c.4683T>C (p.Cys1561=)
c.4656T>C (p.Cys1552=)
c.*97T>C (n.*97T>C)
c.3090T>C (p.Cys1030=)
n.5074T>C
n.4526+13985T>C
c.4647T>C (p.Cys1549=)
n.5090T>C
n.4836T>C
n.4542+13985T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008063A>TCA351140533COL4A4c.366T>A (p.Cys122Ter)
c.4764T>A (p.Cys1588Ter)
c.4209T>A (p.Cys1403Ter)
c.4575T>A (p.Cys1525Ter)
c.4216+13985T>A (n.4216+13985T>A)
c.4683T>A (p.Cys1561Ter)
c.4656T>A (p.Cys1552Ter)
c.*97T>A (n.*97T>A)
c.3090T>A (p.Cys1030Ter)
n.5074T>A
n.4526+13985T>A
c.4647T>A (p.Cys1549Ter)
n.5090T>A
n.4836T>A
n.4542+13985T>A
2g.227008064C>ACA351140534COL4A4c.365G>T (p.Cys122Phe)
c.4763G>T (p.Cys1588Phe)
c.4208G>T (p.Cys1403Phe)
c.4574G>T (p.Cys1525Phe)
c.4216+13984G>T (n.4216+13984G>T)
c.4682G>T (p.Cys1561Phe)
c.4655G>T (p.Cys1552Phe)
c.*96G>T (n.*96G>T)
c.3089G>T (p.Cys1030Phe)
n.5073G>T
n.4526+13984G>T
c.4646G>T (p.Cys1549Phe)
n.5089G>T
n.4835G>T
n.4542+13984G>T
2g.227008064C>GCA351140535COL4A4c.365G>C (p.Cys122Ser)
c.4763G>C (p.Cys1588Ser)
c.4208G>C (p.Cys1403Ser)
c.4574G>C (p.Cys1525Ser)
c.4216+13984G>C (n.4216+13984G>C)
c.4682G>C (p.Cys1561Ser)
c.4655G>C (p.Cys1552Ser)
c.*96G>C (n.*96G>C)
c.3089G>C (p.Cys1030Ser)
n.5073G>C
n.4526+13984G>C
c.4646G>C (p.Cys1549Ser)
n.5089G>C
n.4835G>C
n.4542+13984G>C
2g.227008064C>TCA351140536COL4A4c.365G>A (p.Cys122Tyr)
c.4763G>A (p.Cys1588Tyr)
c.4208G>A (p.Cys1403Tyr)
c.4574G>A (p.Cys1525Tyr)
c.4216+13984G>A (n.4216+13984G>A)
c.4682G>A (p.Cys1561Tyr)
c.4655G>A (p.Cys1552Tyr)
c.*96G>A (n.*96G>A)
c.3089G>A (p.Cys1030Tyr)
n.5073G>A
n.4526+13984G>A
c.4646G>A (p.Cys1549Tyr)
n.5089G>A
n.4835G>A
n.4542+13984G>A
 ClinVar
2g.227008065A>CCA351140537COL4A4c.364T>G (p.Cys122Gly)
c.4762T>G (p.Cys1588Gly)
c.4207T>G (p.Cys1403Gly)
c.4573T>G (p.Cys1525Gly)
c.4216+13983T>G (n.4216+13983T>G)
c.4681T>G (p.Cys1561Gly)
c.4654T>G (p.Cys1552Gly)
c.*95T>G (n.*95T>G)
c.3088T>G (p.Cys1030Gly)
n.5072T>G
n.4526+13983T>G
c.4645T>G (p.Cys1549Gly)
n.5088T>G
n.4834T>G
n.4542+13983T>G
2g.227008065A>GCA351140538COL4A4c.364T>C (p.Cys122Arg)
c.4762T>C (p.Cys1588Arg)
c.4207T>C (p.Cys1403Arg)
c.4573T>C (p.Cys1525Arg)
c.4216+13983T>C (n.4216+13983T>C)
c.4681T>C (p.Cys1561Arg)
c.4654T>C (p.Cys1552Arg)
c.*95T>C (n.*95T>C)
c.3088T>C (p.Cys1030Arg)
n.5072T>C
n.4526+13983T>C
c.4645T>C (p.Cys1549Arg)
n.5088T>C
n.4834T>C
n.4542+13983T>C
 ClinVar
2g.227008065A>TCA351140539COL4A4c.364T>A (p.Cys122Ser)
c.4762T>A (p.Cys1588Ser)
c.4207T>A (p.Cys1403Ser)
c.4573T>A (p.Cys1525Ser)
c.4216+13983T>A (n.4216+13983T>A)
c.4681T>A (p.Cys1561Ser)
c.4654T>A (p.Cys1552Ser)
c.*95T>A (n.*95T>A)
c.3088T>A (p.Cys1030Ser)
n.5072T>A
n.4526+13983T>A
c.4645T>A (p.Cys1549Ser)
n.5088T>A
n.4834T>A
n.4542+13983T>A
 ClinVar
2g.227008066T>ACA431672081COL4A4c.363A>T (p.Pro121=)
c.4761A>T (p.Pro1587=)
c.4206A>T (p.Pro1402=)
c.4572A>T (p.Pro1524=)
c.4216+13982A>T (n.4216+13982A>T)
c.4680A>T (p.Pro1560=)
c.4653A>T (p.Pro1551=)
c.*94A>T (n.*94A>T)
c.3087A>T (p.Pro1029=)
n.5071A>T
n.4526+13982A>T
c.4644A>T (p.Pro1548=)
n.5087A>T
n.4833A>T
n.4542+13982A>T
2g.227008066T>CCA431672080COL4A4c.363A>G (p.Pro121=)
c.4761A>G (p.Pro1587=)
c.4206A>G (p.Pro1402=)
c.4572A>G (p.Pro1524=)
c.4216+13982A>G (n.4216+13982A>G)
c.4680A>G (p.Pro1560=)
c.4653A>G (p.Pro1551=)
c.*94A>G (n.*94A>G)
c.3087A>G (p.Pro1029=)
n.5071A>G
n.4526+13982A>G
c.4644A>G (p.Pro1548=)
n.5087A>G
n.4833A>G
n.4542+13982A>G
 dbSNP gnomAD v4 COSMIC
2g.227008066T>GCA431672079COL4A4c.363A>C (p.Pro121=)
c.4761A>C (p.Pro1587=)
c.4206A>C (p.Pro1402=)
c.4572A>C (p.Pro1524=)
c.4216+13982A>C (n.4216+13982A>C)
c.4680A>C (p.Pro1560=)
c.4653A>C (p.Pro1551=)
c.*94A>C (n.*94A>C)
c.3087A>C (p.Pro1029=)
n.5071A>C
n.4526+13982A>C
c.4644A>C (p.Pro1548=)
n.5087A>C
n.4833A>C
n.4542+13982A>C
2g.227008066T=CA1332723885COL4A4c.363A= (p.Pro121=)
c.4761A= (p.Pro1587=)
c.4206A= (p.Pro1402=)
c.4572A= (p.Pro1524=)
c.4216+13982A= (n.4216+13982A=)
c.4680A= (p.Pro1560=)
c.4653A= (p.Pro1551=)
c.*94A= (n.*94A=)
c.3087A= (p.Pro1029=)
n.5071A=
n.4526+13982A=
c.4644A= (p.Pro1548=)
n.5087A=
n.4833A=
n.4542+13982A=
2g.227008066_227008067delCA913089934COL4A4c.362_363del (p.Pro121LeufsTer?)
c.4760_4761del (p.Pro1587LeufsTer?)
c.4205_4206del (p.Pro1402LeufsTer?)
c.4571_4572del (p.Pro1524LeufsTer?)
c.4216+13981_4216+13982del (n.4216+13981_4216+13982del)
c.4679_4680del (p.Pro1560LeufsTer?)
c.4652_4653del (p.Pro1551LeufsTer?)
c.4760_4761del (p.Pro1587LeufsTer26)
c.*93_*94del (n.*93_*94del)
c.3086_3087del (p.Pro1029LeufsTer?)
n.5070_5071del
n.4526+13981_4526+13982del
c.4643_4644del (p.Pro1548LeufsTer?)
n.5086_5087del
n.4832_4833del
n.4542+13981_4542+13982del
2g.227008066_227008069delinsTGGGCA1332723884COL4A4c.360_363delinsCCCA (p.Pro120=)
c.4758_4761delinsCCCA (p.Pro1586=)
c.4203_4206delinsCCCA (p.Pro1401=)
c.4569_4572delinsCCCA (p.Pro1523=)
c.4216+13979_4216+13982delinsCCCA (n.4216+13979_4216+13982delinsCCCA)
c.4677_4680delinsCCCA (p.Pro1559=)
c.4650_4653delinsCCCA (p.Pro1550=)
c.*91_*94delinsCCCA (n.*91_*94delinsCCCA)
c.3084_3087delinsCCCA (p.Pro1028=)
n.5068_5071delinsCCCA
n.4526+13979_4526+13982delinsCCCA
c.4641_4644delinsCCCA (p.Pro1547=)
n.5084_5087delinsCCCA
n.4830_4833delinsCCCA
n.4542+13979_4542+13982delinsCCCA
2g.227008067G>ACA2144076COL4A4c.362C>T (p.Pro121Leu)
c.4760C>T (p.Pro1587Leu)
c.4205C>T (p.Pro1402Leu)
c.4571C>T (p.Pro1524Leu)
c.4216+13981C>T (n.4216+13981C>T)
c.4679C>T (p.Pro1560Leu)
c.4652C>T (p.Pro1551Leu)
c.*93C>T (n.*93C>T)
c.3086C>T (p.Pro1029Leu)
n.5070C>T
n.4526+13981C>T
c.4643C>T (p.Pro1548Leu)
n.5086C>T
n.4832C>T
n.4542+13981C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008067G>CCA2144075COL4A4c.362C>G (p.Pro121Arg)
c.4760C>G (p.Pro1587Arg)
c.4205C>G (p.Pro1402Arg)
c.4571C>G (p.Pro1524Arg)
c.4216+13981C>G (n.4216+13981C>G)
c.4679C>G (p.Pro1560Arg)
c.4652C>G (p.Pro1551Arg)
c.*93C>G (n.*93C>G)
c.3086C>G (p.Pro1029Arg)
n.5070C>G
n.4526+13981C>G
c.4643C>G (p.Pro1548Arg)
n.5086C>G
n.4832C>G
n.4542+13981C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008067G=CA1332723886COL4A4c.362C= (p.Pro121=)
c.4760C= (p.Pro1587=)
c.4205C= (p.Pro1402=)
c.4571C= (p.Pro1524=)
c.4216+13981C= (n.4216+13981C=)
c.4679C= (p.Pro1560=)
c.4652C= (p.Pro1551=)
c.*93C= (n.*93C=)
c.3086C= (p.Pro1029=)
n.5070C=
n.4526+13981C=
c.4643C= (p.Pro1548=)
n.5086C=
n.4832C=
n.4542+13981C=
2g.227008067G>TCA2144077COL4A4c.362C>A (p.Pro121Gln)
c.4760C>A (p.Pro1587Gln)
c.4205C>A (p.Pro1402Gln)
c.4571C>A (p.Pro1524Gln)
c.4216+13981C>A (n.4216+13981C>A)
c.4679C>A (p.Pro1560Gln)
c.4652C>A (p.Pro1551Gln)
c.*93C>A (n.*93C>A)
c.3086C>A (p.Pro1029Gln)
n.5070C>A
n.4526+13981C>A
c.4643C>A (p.Pro1548Gln)
n.5086C>A
n.4832C>A
n.4542+13981C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008072dupCA540312169COL4A4c.362dup (p.Cys122MetfsTer?)
c.4760dup (p.Cys1588MetfsTer?)
c.4205dup (p.Cys1403MetfsTer?)
c.4571dup (p.Cys1525MetfsTer?)
c.4216+13981dup (n.4216+13981dup)
c.4679dup (p.Cys1561MetfsTer?)
c.4652dup (p.Cys1552MetfsTer?)
c.4760dup (p.Cys1588MetfsTer26)
c.*93dup (n.*93dup)
c.3086dup (p.Cys1030MetfsTer?)
n.5070dup
n.4526+13981dup
c.4643dup (p.Cys1549MetfsTer?)
n.5086dup
n.4832dup
n.4542+13981dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008072delCA658821837COL4A4c.362del (p.Pro121HisfsTer16)
c.4760del (p.Pro1587HisfsTer16)
c.4205del (p.Pro1402HisfsTer16)
c.4571del (p.Pro1524HisfsTer16)
c.4216+13981del (n.4216+13981del)
c.4679del (p.Pro1560HisfsTer16)
c.4652del (p.Pro1551HisfsTer16)
c.*93del (n.*93del)
c.3086del (p.Pro1029HisfsTer16)
n.5070del
n.4526+13981del
c.4643del (p.Pro1548HisfsTer16)
n.5086del
n.4832del
n.4542+13981del
 ClinVar dbSNP
2g.227008070_227008072delCA540312170COL4A4c.360_362del (p.Pro121del)
c.4758_4760del (p.Pro1587del)
c.4203_4205del (p.Pro1402del)
c.4569_4571del (p.Pro1524del)
c.4216+13979_4216+13981del (n.4216+13979_4216+13981del)
c.4677_4679del (p.Pro1560del)
c.4650_4652del (p.Pro1551del)
c.*91_*93del (n.*91_*93del)
c.3084_3086del (p.Pro1029del)
n.5068_5070del
n.4526+13979_4526+13981del
c.4641_4643del (p.Pro1548del)
n.5084_5086del
n.4830_4832del
n.4542+13979_4542+13981del
 dbSNP gnomAD v2 gnomAD v4
2g.227008068G>ACA2144078COL4A4c.361C>T (p.Pro121Ser)
c.4759C>T (p.Pro1587Ser)
c.4204C>T (p.Pro1402Ser)
c.4570C>T (p.Pro1524Ser)
c.4216+13980C>T (n.4216+13980C>T)
c.4678C>T (p.Pro1560Ser)
c.4651C>T (p.Pro1551Ser)
c.*92C>T (n.*92C>T)
c.3085C>T (p.Pro1029Ser)
n.5069C>T
n.4526+13980C>T
c.4642C>T (p.Pro1548Ser)
n.5085C>T
n.4831C>T
n.4542+13980C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008068G>CCA351140541COL4A4c.361C>G (p.Pro121Ala)
c.4759C>G (p.Pro1587Ala)
c.4204C>G (p.Pro1402Ala)
c.4570C>G (p.Pro1524Ala)
c.4216+13980C>G (n.4216+13980C>G)
c.4678C>G (p.Pro1560Ala)
c.4651C>G (p.Pro1551Ala)
c.*92C>G (n.*92C>G)
c.3085C>G (p.Pro1029Ala)
n.5069C>G
n.4526+13980C>G
c.4642C>G (p.Pro1548Ala)
n.5085C>G
n.4831C>G
n.4542+13980C>G
 dbSNP gnomAD v2
2g.227008068G=CA1332723887COL4A4c.361C= (p.Pro121=)
c.4759C= (p.Pro1587=)
c.4204C= (p.Pro1402=)
c.4570C= (p.Pro1524=)
c.4216+13980C= (n.4216+13980C=)
c.4678C= (p.Pro1560=)
c.4651C= (p.Pro1551=)
c.*92C= (n.*92C=)
c.3085C= (p.Pro1029=)
n.5069C=
n.4526+13980C=
c.4642C= (p.Pro1548=)
n.5085C=
n.4831C=
n.4542+13980C=
2g.227008068G>TCA351140540COL4A4c.361C>A (p.Pro121Thr)
c.4759C>A (p.Pro1587Thr)
c.4204C>A (p.Pro1402Thr)
c.4570C>A (p.Pro1524Thr)
c.4216+13980C>A (n.4216+13980C>A)
c.4678C>A (p.Pro1560Thr)
c.4651C>A (p.Pro1551Thr)
c.*92C>A (n.*92C>A)
c.3085C>A (p.Pro1029Thr)
n.5069C>A
n.4526+13980C>A
c.4642C>A (p.Pro1548Thr)
n.5085C>A
n.4831C>A
n.4542+13980C>A
2g.227008069G>ACA67238292COL4A4c.360C>T (p.Pro120=)
c.4758C>T (p.Pro1586=)
c.4203C>T (p.Pro1401=)
c.4569C>T (p.Pro1523=)
c.4216+13979C>T (n.4216+13979C>T)
c.4677C>T (p.Pro1559=)
c.4650C>T (p.Pro1550=)
c.*91C>T (n.*91C>T)
c.3084C>T (p.Pro1028=)
n.5068C>T
n.4526+13979C>T
c.4641C>T (p.Pro1547=)
n.5084C>T
n.4830C>T
n.4542+13979C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227008069G>CCA431672085COL4A4c.360C>G (p.Pro120=)
c.4758C>G (p.Pro1586=)
c.4203C>G (p.Pro1401=)
c.4569C>G (p.Pro1523=)
c.4216+13979C>G (n.4216+13979C>G)
c.4677C>G (p.Pro1559=)
c.4650C>G (p.Pro1550=)
c.*91C>G (n.*91C>G)
c.3084C>G (p.Pro1028=)
n.5068C>G
n.4526+13979C>G
c.4641C>G (p.Pro1547=)
n.5084C>G
n.4830C>G
n.4542+13979C>G
 ClinVar dbSNP gnomAD v4
2g.227008069G=CA1332723888COL4A4c.360C= (p.Pro120=)
c.4758C= (p.Pro1586=)
c.4203C= (p.Pro1401=)
c.4569C= (p.Pro1523=)
c.4216+13979C= (n.4216+13979C=)
c.4677C= (p.Pro1559=)
c.4650C= (p.Pro1550=)
c.*91C= (n.*91C=)
c.3084C= (p.Pro1028=)
n.5068C=
n.4526+13979C=
c.4641C= (p.Pro1547=)
n.5084C=
n.4830C=
n.4542+13979C=
2g.227008069G>TCA431672084COL4A4c.360C>A (p.Pro120=)
c.4758C>A (p.Pro1586=)
c.4203C>A (p.Pro1401=)
c.4569C>A (p.Pro1523=)
c.4216+13979C>A (n.4216+13979C>A)
c.4677C>A (p.Pro1559=)
c.4650C>A (p.Pro1550=)
c.*91C>A (n.*91C>A)
c.3084C>A (p.Pro1028=)
n.5068C>A
n.4526+13979C>A
c.4641C>A (p.Pro1547=)
n.5084C>A
n.4830C>A
n.4542+13979C>A
 ClinVar dbSNP gnomAD v4
2g.227008070G>ACA351140542COL4A4c.359C>T (p.Pro120Leu)
c.4757C>T (p.Pro1586Leu)
c.4202C>T (p.Pro1401Leu)
c.4568C>T (p.Pro1523Leu)
c.4216+13978C>T (n.4216+13978C>T)
c.4676C>T (p.Pro1559Leu)
c.4649C>T (p.Pro1550Leu)
c.*90C>T (n.*90C>T)
c.3083C>T (p.Pro1028Leu)
n.5067C>T
n.4526+13978C>T
c.4640C>T (p.Pro1547Leu)
n.5083C>T
n.4829C>T
n.4542+13978C>T
 gnomAD v4
2g.227008070G>CCA351140543COL4A4c.359C>G (p.Pro120Arg)
c.4757C>G (p.Pro1586Arg)
c.4202C>G (p.Pro1401Arg)
c.4568C>G (p.Pro1523Arg)
c.4216+13978C>G (n.4216+13978C>G)
c.4676C>G (p.Pro1559Arg)
c.4649C>G (p.Pro1550Arg)
c.*90C>G (n.*90C>G)
c.3083C>G (p.Pro1028Arg)
n.5067C>G
n.4526+13978C>G
c.4640C>G (p.Pro1547Arg)
n.5083C>G
n.4829C>G
n.4542+13978C>G
 gnomAD v4
2g.227008070G>TCA351140544COL4A4c.359C>A (p.Pro120His)
c.4757C>A (p.Pro1586His)
c.4202C>A (p.Pro1401His)
c.4568C>A (p.Pro1523His)
c.4216+13978C>A (n.4216+13978C>A)
c.4676C>A (p.Pro1559His)
c.4649C>A (p.Pro1550His)
c.*90C>A (n.*90C>A)
c.3083C>A (p.Pro1028His)
n.5067C>A
n.4526+13978C>A
c.4640C>A (p.Pro1547His)
n.5083C>A
n.4829C>A
n.4542+13978C>A
2g.227008071G>ACA351140545COL4A4c.358C>T (p.Pro120Ser)
c.4756C>T (p.Pro1586Ser)
c.4201C>T (p.Pro1401Ser)
c.4567C>T (p.Pro1523Ser)
c.4216+13977C>T (n.4216+13977C>T)
c.4675C>T (p.Pro1559Ser)
c.4648C>T (p.Pro1550Ser)
c.*89C>T (n.*89C>T)
c.3082C>T (p.Pro1028Ser)
n.5066C>T
n.4526+13977C>T
c.4639C>T (p.Pro1547Ser)
n.5082C>T
n.4828C>T
n.4542+13977C>T
 dbSNP
2g.227008071G>CCA351140546COL4A4c.358C>G (p.Pro120Ala)
c.4756C>G (p.Pro1586Ala)
c.4201C>G (p.Pro1401Ala)
c.4567C>G (p.Pro1523Ala)
c.4216+13977C>G (n.4216+13977C>G)
c.4675C>G (p.Pro1559Ala)
c.4648C>G (p.Pro1550Ala)
c.*89C>G (n.*89C>G)
c.3082C>G (p.Pro1028Ala)
n.5066C>G
n.4526+13977C>G
c.4639C>G (p.Pro1547Ala)
n.5082C>G
n.4828C>G
n.4542+13977C>G
2g.227008071G=CA1332723889COL4A4c.358C= (p.Pro120=)
c.4756C= (p.Pro1586=)
c.4201C= (p.Pro1401=)
c.4567C= (p.Pro1523=)
c.4216+13977C= (n.4216+13977C=)
c.4675C= (p.Pro1559=)
c.4648C= (p.Pro1550=)
c.*89C= (n.*89C=)
c.3082C= (p.Pro1028=)
n.5066C=
n.4526+13977C=
c.4639C= (p.Pro1547=)
n.5082C=
n.4828C=
n.4542+13977C=
2g.227008071G>TCA351140547COL4A4c.358C>A (p.Pro120Thr)
c.4756C>A (p.Pro1586Thr)
c.4201C>A (p.Pro1401Thr)
c.4567C>A (p.Pro1523Thr)
c.4216+13977C>A (n.4216+13977C>A)
c.4675C>A (p.Pro1559Thr)
c.4648C>A (p.Pro1550Thr)
c.*89C>A (n.*89C>A)
c.3082C>A (p.Pro1028Thr)
n.5066C>A
n.4526+13977C>A
c.4639C>A (p.Pro1547Thr)
n.5082C>A
n.4828C>A
n.4542+13977C>A
 gnomAD v4 COSMIC
2g.227008072G>ACA67238293COL4A4c.357C>T (p.Ile119=)
c.4755C>T (p.Ile1585=)
c.4200C>T (p.Ile1400=)
c.4566C>T (p.Ile1522=)
c.4216+13976C>T (n.4216+13976C>T)
c.4674C>T (p.Ile1558=)
c.4647C>T (p.Ile1549=)
c.*88C>T (n.*88C>T)
c.3081C>T (p.Ile1027=)
n.5065C>T
n.4526+13976C>T
c.4638C>T (p.Ile1546=)
n.5081C>T
n.4827C>T
n.4542+13976C>T
 ClinVar dbSNP
2g.227008072G>CCA351140548COL4A4c.357C>G (p.Ile119Met)
c.4755C>G (p.Ile1585Met)
c.4200C>G (p.Ile1400Met)
c.4566C>G (p.Ile1522Met)
c.4216+13976C>G (n.4216+13976C>G)
c.4674C>G (p.Ile1558Met)
c.4647C>G (p.Ile1549Met)
c.*88C>G (n.*88C>G)
c.3081C>G (p.Ile1027Met)
n.5065C>G
n.4526+13976C>G
c.4638C>G (p.Ile1546Met)
n.5081C>G
n.4827C>G
n.4542+13976C>G
2g.227008072G=CA1332723890COL4A4c.357C= (p.Ile119=)
c.4755C= (p.Ile1585=)
c.4200C= (p.Ile1400=)
c.4566C= (p.Ile1522=)
c.4216+13976C= (n.4216+13976C=)
c.4674C= (p.Ile1558=)
c.4647C= (p.Ile1549=)
c.*88C= (n.*88C=)
c.3081C= (p.Ile1027=)
n.5065C=
n.4526+13976C=
c.4638C= (p.Ile1546=)
n.5081C=
n.4827C=
n.4542+13976C=
2g.227008072G>TCA431672086COL4A4c.357C>A (p.Ile119=)
c.4755C>A (p.Ile1585=)
c.4200C>A (p.Ile1400=)
c.4566C>A (p.Ile1522=)
c.4216+13976C>A (n.4216+13976C>A)
c.4674C>A (p.Ile1558=)
c.4647C>A (p.Ile1549=)
c.*88C>A (n.*88C>A)
c.3081C>A (p.Ile1027=)
n.5065C>A
n.4526+13976C>A
c.4638C>A (p.Ile1546=)
n.5081C>A
n.4827C>A
n.4542+13976C>A
 ClinVar dbSNP gnomAD v4
2g.227008073delCA2577263043COL4A4c.356del (p.Ile119ThrfsTer18)
c.4754del (p.Ile1585ThrfsTer18)
c.4199del (p.Ile1400ThrfsTer18)
c.4565del (p.Ile1522ThrfsTer18)
c.4216+13975del (n.4216+13975del)
c.4673del (p.Ile1558ThrfsTer18)
c.4646del (p.Ile1549ThrfsTer18)
c.*87del (n.*87del)
c.3080del (p.Ile1027ThrfsTer18)
n.5064del
n.4526+13975del
c.4637del (p.Ile1546ThrfsTer18)
n.5080del
n.4826del
n.4542+13975del
2g.227008073A>CCA351140549COL4A4c.356T>G (p.Ile119Ser)
c.4754T>G (p.Ile1585Ser)
c.4199T>G (p.Ile1400Ser)
c.4565T>G (p.Ile1522Ser)
c.4216+13975T>G (n.4216+13975T>G)
c.4673T>G (p.Ile1558Ser)
c.4646T>G (p.Ile1549Ser)
c.*87T>G (n.*87T>G)
c.3080T>G (p.Ile1027Ser)
n.5064T>G
n.4526+13975T>G
c.4637T>G (p.Ile1546Ser)
n.5080T>G
n.4826T>G
n.4542+13975T>G
2g.227008073A>GCA351140550COL4A4c.356T>C (p.Ile119Thr)
c.4754T>C (p.Ile1585Thr)
c.4199T>C (p.Ile1400Thr)
c.4565T>C (p.Ile1522Thr)
c.4216+13975T>C (n.4216+13975T>C)
c.4673T>C (p.Ile1558Thr)
c.4646T>C (p.Ile1549Thr)
c.*87T>C (n.*87T>C)
c.3080T>C (p.Ile1027Thr)
n.5064T>C
n.4526+13975T>C
c.4637T>C (p.Ile1546Thr)
n.5080T>C
n.4826T>C
n.4542+13975T>C
2g.227008073A>TCA351140551COL4A4c.356T>A (p.Ile119Asn)
c.4754T>A (p.Ile1585Asn)
c.4199T>A (p.Ile1400Asn)
c.4565T>A (p.Ile1522Asn)
c.4216+13975T>A (n.4216+13975T>A)
c.4673T>A (p.Ile1558Asn)
c.4646T>A (p.Ile1549Asn)
c.*87T>A (n.*87T>A)
c.3080T>A (p.Ile1027Asn)
n.5064T>A
n.4526+13975T>A
c.4637T>A (p.Ile1546Asn)
n.5080T>A
n.4826T>A
n.4542+13975T>A
2g.227008074T>ACA351140552COL4A4c.355A>T (p.Ile119Phe)
c.4753A>T (p.Ile1585Phe)
c.4198A>T (p.Ile1400Phe)
c.4564A>T (p.Ile1522Phe)
c.4216+13974A>T (n.4216+13974A>T)
c.4672A>T (p.Ile1558Phe)
c.4645A>T (p.Ile1549Phe)
c.*86A>T (n.*86A>T)
c.3079A>T (p.Ile1027Phe)
n.5063A>T
n.4526+13974A>T
c.4636A>T (p.Ile1546Phe)
n.5079A>T
n.4825A>T
n.4542+13974A>T
2g.227008074T>CCA351140553COL4A4c.355A>G (p.Ile119Val)
c.4753A>G (p.Ile1585Val)
c.4198A>G (p.Ile1400Val)
c.4564A>G (p.Ile1522Val)
c.4216+13974A>G (n.4216+13974A>G)
c.4672A>G (p.Ile1558Val)
c.4645A>G (p.Ile1549Val)
c.*86A>G (n.*86A>G)
c.3079A>G (p.Ile1027Val)
n.5063A>G
n.4526+13974A>G
c.4636A>G (p.Ile1546Val)
n.5079A>G
n.4825A>G
n.4542+13974A>G
2g.227008074T>GCA351140554COL4A4c.355A>C (p.Ile119Leu)
c.4753A>C (p.Ile1585Leu)
c.4198A>C (p.Ile1400Leu)
c.4564A>C (p.Ile1522Leu)
c.4216+13974A>C (n.4216+13974A>C)
c.4672A>C (p.Ile1558Leu)
c.4645A>C (p.Ile1549Leu)
c.*86A>C (n.*86A>C)
c.3079A>C (p.Ile1027Leu)
n.5063A>C
n.4526+13974A>C
c.4636A>C (p.Ile1546Leu)
n.5079A>C
n.4825A>C
n.4542+13974A>C
2g.227008075G>ACA431672089COL4A4c.354C>T (p.Ser118=)
c.4752C>T (p.Ser1584=)
c.4197C>T (p.Ser1399=)
c.4563C>T (p.Ser1521=)
c.4216+13973C>T (n.4216+13973C>T)
c.4671C>T (p.Ser1557=)
c.4644C>T (p.Ser1548=)
c.*85C>T (n.*85C>T)
c.3078C>T (p.Ser1026=)
n.5062C>T
n.4526+13973C>T
c.4635C>T (p.Ser1545=)
n.5078C>T
n.4824C>T
n.4542+13973C>T
 ClinVar
2g.227008075G>CCA431672090COL4A4c.354C>G (p.Ser118=)
c.4752C>G (p.Ser1584=)
c.4197C>G (p.Ser1399=)
c.4563C>G (p.Ser1521=)
c.4216+13973C>G (n.4216+13973C>G)
c.4671C>G (p.Ser1557=)
c.4644C>G (p.Ser1548=)
c.*85C>G (n.*85C>G)
c.3078C>G (p.Ser1026=)
n.5062C>G
n.4526+13973C>G
c.4635C>G (p.Ser1545=)
n.5078C>G
n.4824C>G
n.4542+13973C>G
2g.227008075G>TCA431672091COL4A4c.354C>A (p.Ser118=)
c.4752C>A (p.Ser1584=)
c.4197C>A (p.Ser1399=)
c.4563C>A (p.Ser1521=)
c.4216+13973C>A (n.4216+13973C>A)
c.4671C>A (p.Ser1557=)
c.4644C>A (p.Ser1548=)
c.*85C>A (n.*85C>A)
c.3078C>A (p.Ser1026=)
n.5062C>A
n.4526+13973C>A
c.4635C>A (p.Ser1545=)
n.5078C>A
n.4824C>A
n.4542+13973C>A
2g.227008076G>ACA351140555COL4A4c.353C>T (p.Ser118Phe)
c.4751C>T (p.Ser1584Phe)
c.4196C>T (p.Ser1399Phe)
c.4562C>T (p.Ser1521Phe)
c.4216+13972C>T (n.4216+13972C>T)
c.4670C>T (p.Ser1557Phe)
c.4643C>T (p.Ser1548Phe)
c.*84C>T (n.*84C>T)
c.3077C>T (p.Ser1026Phe)
n.5061C>T
n.4526+13972C>T
c.4634C>T (p.Ser1545Phe)
n.5077C>T
n.4823C>T
n.4542+13972C>T
 dbSNP gnomAD v4 COSMIC
2g.227008076G>CCA351140557COL4A4c.353C>G (p.Ser118Cys)
c.4751C>G (p.Ser1584Cys)
c.4196C>G (p.Ser1399Cys)
c.4562C>G (p.Ser1521Cys)
c.4216+13972C>G (n.4216+13972C>G)
c.4670C>G (p.Ser1557Cys)
c.4643C>G (p.Ser1548Cys)
c.*84C>G (n.*84C>G)
c.3077C>G (p.Ser1026Cys)
n.5061C>G
n.4526+13972C>G
c.4634C>G (p.Ser1545Cys)
n.5077C>G
n.4823C>G
n.4542+13972C>G
 dbSNP
2g.227008076G=CA1332723891COL4A4c.353C= (p.Ser118=)
c.4751C= (p.Ser1584=)
c.4196C= (p.Ser1399=)
c.4562C= (p.Ser1521=)
c.4216+13972C= (n.4216+13972C=)
c.4670C= (p.Ser1557=)
c.4643C= (p.Ser1548=)
c.*84C= (n.*84C=)
c.3077C= (p.Ser1026=)
n.5061C=
n.4526+13972C=
c.4634C= (p.Ser1545=)
n.5077C=
n.4823C=
n.4542+13972C=
2g.227008076G>TCA351140556COL4A4c.353C>A (p.Ser118Tyr)
c.4751C>A (p.Ser1584Tyr)
c.4196C>A (p.Ser1399Tyr)
c.4562C>A (p.Ser1521Tyr)
c.4216+13972C>A (n.4216+13972C>A)
c.4670C>A (p.Ser1557Tyr)
c.4643C>A (p.Ser1548Tyr)
c.*84C>A (n.*84C>A)
c.3077C>A (p.Ser1026Tyr)
n.5061C>A
n.4526+13972C>A
c.4634C>A (p.Ser1545Tyr)
n.5077C>A
n.4823C>A
n.4542+13972C>A
2g.227008076_227008078delCA2586965583COL4A4c.351_353del (p.Gln117_Ser118delinsHis)
c.4749_4751del (p.Gln1583_Ser1584delinsHis)
c.4194_4196del (p.Gln1398_Ser1399delinsHis)
c.4560_4562del (p.Gln1520_Ser1521delinsHis)
c.4216+13970_4216+13972del (n.4216+13970_4216+13972del)
c.4668_4670del (p.Gln1556_Ser1557delinsHis)
c.4641_4643del (p.Gln1547_Ser1548delinsHis)
c.*82_*84del (n.*82_*84del)
c.3075_3077del (p.Gln1025_Ser1026delinsHis)
n.5059_5061del
n.4526+13970_4526+13972del
c.4632_4634del (p.Gln1544_Ser1545delinsHis)
n.5075_5077del
n.4821_4823del
n.4542+13970_4542+13972del
2g.227008077A>CCA351140558COL4A4c.352T>G (p.Ser118Ala)
c.4750T>G (p.Ser1584Ala)
c.4195T>G (p.Ser1399Ala)
c.4561T>G (p.Ser1521Ala)
c.4216+13971T>G (n.4216+13971T>G)
c.4669T>G (p.Ser1557Ala)
c.4642T>G (p.Ser1548Ala)
c.*83T>G (n.*83T>G)
c.3076T>G (p.Ser1026Ala)
n.5060T>G
n.4526+13971T>G
c.4633T>G (p.Ser1545Ala)
n.5076T>G
n.4822T>G
n.4542+13971T>G
2g.227008077A>GCA351140559COL4A4c.352T>C (p.Ser118Pro)
c.4750T>C (p.Ser1584Pro)
c.4195T>C (p.Ser1399Pro)
c.4561T>C (p.Ser1521Pro)
c.4216+13971T>C (n.4216+13971T>C)
c.4669T>C (p.Ser1557Pro)
c.4642T>C (p.Ser1548Pro)
c.*83T>C (n.*83T>C)
c.3076T>C (p.Ser1026Pro)
n.5060T>C
n.4526+13971T>C
c.4633T>C (p.Ser1545Pro)
n.5076T>C
n.4822T>C
n.4542+13971T>C
2g.227008077A>TCA351140560COL4A4c.352T>A (p.Ser118Thr)
c.4750T>A (p.Ser1584Thr)
c.4195T>A (p.Ser1399Thr)
c.4561T>A (p.Ser1521Thr)
c.4216+13971T>A (n.4216+13971T>A)
c.4669T>A (p.Ser1557Thr)
c.4642T>A (p.Ser1548Thr)
c.*83T>A (n.*83T>A)
c.3076T>A (p.Ser1026Thr)
n.5060T>A
n.4526+13971T>A
c.4633T>A (p.Ser1545Thr)
n.5076T>A
n.4822T>A
n.4542+13971T>A
2g.227008078C>ACA351140561COL4A4c.351G>T (p.Gln117His)
c.4749G>T (p.Gln1583His)
c.4194G>T (p.Gln1398His)
c.4560G>T (p.Gln1520His)
c.4216+13970G>T (n.4216+13970G>T)
c.4668G>T (p.Gln1556His)
c.4641G>T (p.Gln1547His)
c.*82G>T (n.*82G>T)
c.3075G>T (p.Gln1025His)
n.5059G>T
n.4526+13970G>T
c.4632G>T (p.Gln1544His)
n.5075G>T
n.4821G>T
n.4542+13970G>T
2g.227008078C=CA1332723892COL4A4c.351G= (p.Gln117=)
c.4749G= (p.Gln1583=)
c.4194G= (p.Gln1398=)
c.4560G= (p.Gln1520=)
c.4216+13970G= (n.4216+13970G=)
c.4668G= (p.Gln1556=)
c.4641G= (p.Gln1547=)
c.*82G= (n.*82G=)
c.3075G= (p.Gln1025=)
n.5059G=
n.4526+13970G=
c.4632G= (p.Gln1544=)
n.5075G=
n.4821G=
n.4542+13970G=
2g.227008078C>GCA351140562COL4A4c.351G>C (p.Gln117His)
c.4749G>C (p.Gln1583His)
c.4194G>C (p.Gln1398His)
c.4560G>C (p.Gln1520His)
c.4216+13970G>C (n.4216+13970G>C)
c.4668G>C (p.Gln1556His)
c.4641G>C (p.Gln1547His)
c.*82G>C (n.*82G>C)
c.3075G>C (p.Gln1025His)
n.5059G>C
n.4526+13970G>C
c.4632G>C (p.Gln1544His)
n.5075G>C
n.4821G>C
n.4542+13970G>C
2g.227008078C>TCA431672092COL4A4c.351G>A (p.Gln117=)
c.4749G>A (p.Gln1583=)
c.4194G>A (p.Gln1398=)
c.4560G>A (p.Gln1520=)
c.4216+13970G>A (n.4216+13970G>A)
c.4668G>A (p.Gln1556=)
c.4641G>A (p.Gln1547=)
c.*82G>A (n.*82G>A)
c.3075G>A (p.Gln1025=)
n.5059G>A
n.4526+13970G>A
c.4632G>A (p.Gln1544=)
n.5075G>A
n.4821G>A
n.4542+13970G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008079T>ACA2144079COL4A4c.350A>T (p.Gln117Leu)
c.4748A>T (p.Gln1583Leu)
c.4193A>T (p.Gln1398Leu)
c.4559A>T (p.Gln1520Leu)
c.4216+13969A>T (n.4216+13969A>T)
c.4667A>T (p.Gln1556Leu)
c.4640A>T (p.Gln1547Leu)
c.*81A>T (n.*81A>T)
c.3074A>T (p.Gln1025Leu)
n.5058A>T
n.4526+13969A>T
c.4631A>T (p.Gln1544Leu)
n.5074A>T
n.4820A>T
n.4542+13969A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008079T>CCA351140563COL4A4c.350A>G (p.Gln117Arg)
c.4748A>G (p.Gln1583Arg)
c.4193A>G (p.Gln1398Arg)
c.4559A>G (p.Gln1520Arg)
c.4216+13969A>G (n.4216+13969A>G)
c.4667A>G (p.Gln1556Arg)
c.4640A>G (p.Gln1547Arg)
c.*81A>G (n.*81A>G)
c.3074A>G (p.Gln1025Arg)
n.5058A>G
n.4526+13969A>G
c.4631A>G (p.Gln1544Arg)
n.5074A>G
n.4820A>G
n.4542+13969A>G
 gnomAD v4
2g.227008079T>GCA351140564COL4A4c.350A>C (p.Gln117Pro)
c.4748A>C (p.Gln1583Pro)
c.4193A>C (p.Gln1398Pro)
c.4559A>C (p.Gln1520Pro)
c.4216+13969A>C (n.4216+13969A>C)
c.4667A>C (p.Gln1556Pro)
c.4640A>C (p.Gln1547Pro)
c.*81A>C (n.*81A>C)
c.3074A>C (p.Gln1025Pro)
n.5058A>C
n.4526+13969A>C
c.4631A>C (p.Gln1544Pro)
n.5074A>C
n.4820A>C
n.4542+13969A>C
2g.227008079T=CA1332723893COL4A4c.350A= (p.Gln117=)
c.4748A= (p.Gln1583=)
c.4193A= (p.Gln1398=)
c.4559A= (p.Gln1520=)
c.4216+13969A= (n.4216+13969A=)
c.4667A= (p.Gln1556=)
c.4640A= (p.Gln1547=)
c.*81A= (n.*81A=)
c.3074A= (p.Gln1025=)
n.5058A=
n.4526+13969A=
c.4631A= (p.Gln1544=)
n.5074A=
n.4820A=
n.4542+13969A=
2g.227008080G>ACA351140565COL4A4c.349C>T (p.Gln117Ter)
c.4747C>T (p.Gln1583Ter)
c.4192C>T (p.Gln1398Ter)
c.4558C>T (p.Gln1520Ter)
c.4216+13968C>T (n.4216+13968C>T)
c.4666C>T (p.Gln1556Ter)
c.4639C>T (p.Gln1547Ter)
c.*80C>T (n.*80C>T)
c.3073C>T (p.Gln1025Ter)
n.5057C>T
n.4526+13968C>T
c.4630C>T (p.Gln1544Ter)
n.5073C>T
n.4819C>T
n.4542+13968C>T
 ClinVar
2g.227008080G>CCA351140566COL4A4c.349C>G (p.Gln117Glu)
c.4747C>G (p.Gln1583Glu)
c.4192C>G (p.Gln1398Glu)
c.4558C>G (p.Gln1520Glu)
c.4216+13968C>G (n.4216+13968C>G)
c.4666C>G (p.Gln1556Glu)
c.4639C>G (p.Gln1547Glu)
c.*80C>G (n.*80C>G)
c.3073C>G (p.Gln1025Glu)
n.5057C>G
n.4526+13968C>G
c.4630C>G (p.Gln1544Glu)
n.5073C>G
n.4819C>G
n.4542+13968C>G
2g.227008080G>TCA351140567COL4A4c.349C>A (p.Gln117Lys)
c.4747C>A (p.Gln1583Lys)
c.4192C>A (p.Gln1398Lys)
c.4558C>A (p.Gln1520Lys)
c.4216+13968C>A (n.4216+13968C>A)
c.4666C>A (p.Gln1556Lys)
c.4639C>A (p.Gln1547Lys)
c.*80C>A (n.*80C>A)
c.3073C>A (p.Gln1025Lys)
n.5057C>A
n.4526+13968C>A
c.4630C>A (p.Gln1544Lys)
n.5073C>A
n.4819C>A
n.4542+13968C>A
2g.227008081G>ACA431672094COL4A4c.348C>T (p.Asp116=)
c.4746C>T (p.Asp1582=)
c.4191C>T (p.Asp1397=)
c.4557C>T (p.Asp1519=)
c.4216+13967C>T (n.4216+13967C>T)
c.4665C>T (p.Asp1555=)
c.4638C>T (p.Asp1546=)
c.*79C>T (n.*79C>T)
c.3072C>T (p.Asp1024=)
n.5056C>T
n.4526+13967C>T
c.4629C>T (p.Asp1543=)
n.5072C>T
n.4818C>T
n.4542+13967C>T
2g.227008081G>CCA351140569COL4A4c.348C>G (p.Asp116Glu)
c.4746C>G (p.Asp1582Glu)
c.4191C>G (p.Asp1397Glu)
c.4557C>G (p.Asp1519Glu)
c.4216+13967C>G (n.4216+13967C>G)
c.4665C>G (p.Asp1555Glu)
c.4638C>G (p.Asp1546Glu)
c.*79C>G (n.*79C>G)
c.3072C>G (p.Asp1024Glu)
n.5056C>G
n.4526+13967C>G
c.4629C>G (p.Asp1543Glu)
n.5072C>G
n.4818C>G
n.4542+13967C>G
2g.227008081G>TCA351140568COL4A4c.348C>A (p.Asp116Glu)
c.4746C>A (p.Asp1582Glu)
c.4191C>A (p.Asp1397Glu)
c.4557C>A (p.Asp1519Glu)
c.4216+13967C>A (n.4216+13967C>A)
c.4665C>A (p.Asp1555Glu)
c.4638C>A (p.Asp1546Glu)
c.*79C>A (n.*79C>A)
c.3072C>A (p.Asp1024Glu)
n.5056C>A
n.4526+13967C>A
c.4629C>A (p.Asp1543Glu)
n.5072C>A
n.4818C>A
n.4542+13967C>A
2g.227008082T>ACA351140570COL4A4c.347A>T (p.Asp116Val)
c.4745A>T (p.Asp1582Val)
c.4190A>T (p.Asp1397Val)
c.4556A>T (p.Asp1519Val)
c.4216+13966A>T (n.4216+13966A>T)
c.4664A>T (p.Asp1555Val)
c.4637A>T (p.Asp1546Val)
c.*78A>T (n.*78A>T)
c.3071A>T (p.Asp1024Val)
n.5055A>T
n.4526+13966A>T
c.4628A>T (p.Asp1543Val)
n.5071A>T
n.4817A>T
n.4542+13966A>T
2g.227008082T>CCA351140571COL4A4c.347A>G (p.Asp116Gly)
c.4745A>G (p.Asp1582Gly)
c.4190A>G (p.Asp1397Gly)
c.4556A>G (p.Asp1519Gly)
c.4216+13966A>G (n.4216+13966A>G)
c.4664A>G (p.Asp1555Gly)
c.4637A>G (p.Asp1546Gly)
c.*78A>G (n.*78A>G)
c.3071A>G (p.Asp1024Gly)
n.5055A>G
n.4526+13966A>G
c.4628A>G (p.Asp1543Gly)
n.5071A>G
n.4817A>G
n.4542+13966A>G
2g.227008082T>GCA351140572COL4A4c.347A>C (p.Asp116Ala)
c.4745A>C (p.Asp1582Ala)
c.4190A>C (p.Asp1397Ala)
c.4556A>C (p.Asp1519Ala)
c.4216+13966A>C (n.4216+13966A>C)
c.4664A>C (p.Asp1555Ala)
c.4637A>C (p.Asp1546Ala)
c.*78A>C (n.*78A>C)
c.3071A>C (p.Asp1024Ala)
n.5055A>C
n.4526+13966A>C
c.4628A>C (p.Asp1543Ala)
n.5071A>C
n.4817A>C
n.4542+13966A>C
 dbSNP gnomAD v4
2g.227008082T=CA1332723894COL4A4c.347A= (p.Asp116=)
c.4745A= (p.Asp1582=)
c.4190A= (p.Asp1397=)
c.4556A= (p.Asp1519=)
c.4216+13966A= (n.4216+13966A=)
c.4664A= (p.Asp1555=)
c.4637A= (p.Asp1546=)
c.*78A= (n.*78A=)
c.3071A= (p.Asp1024=)
n.5055A=
n.4526+13966A=
c.4628A= (p.Asp1543=)
n.5071A=
n.4817A=
n.4542+13966A=
2g.227008083C>ACA351140573COL4A4c.346G>T (p.Asp116Tyr)
c.4744G>T (p.Asp1582Tyr)
c.4189G>T (p.Asp1397Tyr)
c.4555G>T (p.Asp1519Tyr)
c.4216+13965G>T (n.4216+13965G>T)
c.4663G>T (p.Asp1555Tyr)
c.4636G>T (p.Asp1546Tyr)
c.*77G>T (n.*77G>T)
c.3070G>T (p.Asp1024Tyr)
n.5054G>T
n.4526+13965G>T
c.4627G>T (p.Asp1543Tyr)
n.5070G>T
n.4816G>T
n.4542+13965G>T
2g.227008083C=CA1332723895COL4A4c.346G= (p.Asp116=)
c.4744G= (p.Asp1582=)
c.4189G= (p.Asp1397=)
c.4555G= (p.Asp1519=)
c.4216+13965G= (n.4216+13965G=)
c.4663G= (p.Asp1555=)
c.4636G= (p.Asp1546=)
c.*77G= (n.*77G=)
c.3070G= (p.Asp1024=)
n.5054G=
n.4526+13965G=
c.4627G= (p.Asp1543=)
n.5070G=
n.4816G=
n.4542+13965G=
2g.227008083C>GCA351140574COL4A4c.346G>C (p.Asp116His)
c.4744G>C (p.Asp1582His)
c.4189G>C (p.Asp1397His)
c.4555G>C (p.Asp1519His)
c.4216+13965G>C (n.4216+13965G>C)
c.4663G>C (p.Asp1555His)
c.4636G>C (p.Asp1546His)
c.*77G>C (n.*77G>C)
c.3070G>C (p.Asp1024His)
n.5054G>C
n.4526+13965G>C
c.4627G>C (p.Asp1543His)
n.5070G>C
n.4816G>C
n.4542+13965G>C
2g.227008083C>TCA351140575COL4A4c.346G>A (p.Asp116Asn)
c.4744G>A (p.Asp1582Asn)
c.4189G>A (p.Asp1397Asn)
c.4555G>A (p.Asp1519Asn)
c.4216+13965G>A (n.4216+13965G>A)
c.4663G>A (p.Asp1555Asn)
c.4636G>A (p.Asp1546Asn)
c.*77G>A (n.*77G>A)
c.3070G>A (p.Asp1024Asn)
n.5054G>A
n.4526+13965G>A
c.4627G>A (p.Asp1543Asn)
n.5070G>A
n.4816G>A
n.4542+13965G>A
 dbSNP gnomAD v4
2g.227008083_227008086delinsTCTTCA2573135351COL4A4c.343_346delinsAAGA (p.Gln115_Asp116delinsLysAsn)
c.4741_4744delinsAAGA (p.Gln1581_Asp1582delinsLysAsn)
c.4186_4189delinsAAGA (p.Gln1396_Asp1397delinsLysAsn)
c.4552_4555delinsAAGA (p.Gln1518_Asp1519delinsLysAsn)
c.4216+13962_4216+13965delinsAAGA (n.4216+13962_4216+13965delinsAAGA)
c.4660_4663delinsAAGA (p.Gln1554_Asp1555delinsLysAsn)
c.4633_4636delinsAAGA (p.Gln1545_Asp1546delinsLysAsn)
c.*74_*77delinsAAGA (n.*74_*77delinsAAGA)
c.3067_3070delinsAAGA (p.Gln1023_Asp1024delinsLysAsn)
n.5051_5054delinsAAGA
n.4526+13962_4526+13965delinsAAGA
c.4624_4627delinsAAGA (p.Gln1542_Asp1543delinsLysAsn)
n.5067_5070delinsAAGA
n.4813_4816delinsAAGA
n.4542+13962_4542+13965delinsAAGA
 ClinVar dbSNP
2g.227008084C>ACA351140576COL4A4c.345G>T (p.Gln115His)
c.4743G>T (p.Gln1581His)
c.4188G>T (p.Gln1396His)
c.4554G>T (p.Gln1518His)
c.4216+13964G>T (n.4216+13964G>T)
c.4662G>T (p.Gln1554His)
c.4635G>T (p.Gln1545His)
c.*76G>T (n.*76G>T)
c.3069G>T (p.Gln1023His)
n.5053G>T
n.4526+13964G>T
c.4626G>T (p.Gln1542His)
n.5069G>T
n.4815G>T
n.4542+13964G>T
2g.227008084C>GCA351140577COL4A4c.345G>C (p.Gln115His)
c.4743G>C (p.Gln1581His)
c.4188G>C (p.Gln1396His)
c.4554G>C (p.Gln1518His)
c.4216+13964G>C (n.4216+13964G>C)
c.4662G>C (p.Gln1554His)
c.4635G>C (p.Gln1545His)
c.*76G>C (n.*76G>C)
c.3069G>C (p.Gln1023His)
n.5053G>C
n.4526+13964G>C
c.4626G>C (p.Gln1542His)
n.5069G>C
n.4815G>C
n.4542+13964G>C
2g.227008084C>TCA431672095COL4A4c.345G>A (p.Gln115=)
c.4743G>A (p.Gln1581=)
c.4188G>A (p.Gln1396=)
c.4554G>A (p.Gln1518=)
c.4216+13964G>A (n.4216+13964G>A)
c.4662G>A (p.Gln1554=)
c.4635G>A (p.Gln1545=)
c.*76G>A (n.*76G>A)
c.3069G>A (p.Gln1023=)
n.5053G>A
n.4526+13964G>A
c.4626G>A (p.Gln1542=)
n.5069G>A
n.4815G>A
n.4542+13964G>A
2g.227008085T>ACA351140578COL4A4c.344A>T (p.Gln115Leu)
c.4742A>T (p.Gln1581Leu)
c.4187A>T (p.Gln1396Leu)
c.4553A>T (p.Gln1518Leu)
c.4216+13963A>T (n.4216+13963A>T)
c.4661A>T (p.Gln1554Leu)
c.4634A>T (p.Gln1545Leu)
c.*75A>T (n.*75A>T)
c.3068A>T (p.Gln1023Leu)
n.5052A>T
n.4526+13963A>T
c.4625A>T (p.Gln1542Leu)
n.5068A>T
n.4814A>T
n.4542+13963A>T
2g.227008085T>CCA351140579COL4A4c.344A>G (p.Gln115Arg)
c.4742A>G (p.Gln1581Arg)
c.4187A>G (p.Gln1396Arg)
c.4553A>G (p.Gln1518Arg)
c.4216+13963A>G (n.4216+13963A>G)
c.4661A>G (p.Gln1554Arg)
c.4634A>G (p.Gln1545Arg)
c.*75A>G (n.*75A>G)
c.3068A>G (p.Gln1023Arg)
n.5052A>G
n.4526+13963A>G
c.4625A>G (p.Gln1542Arg)
n.5068A>G
n.4814A>G
n.4542+13963A>G
2g.227008085T>GCA351140580COL4A4c.344A>C (p.Gln115Pro)
c.4742A>C (p.Gln1581Pro)
c.4187A>C (p.Gln1396Pro)
c.4553A>C (p.Gln1518Pro)
c.4216+13963A>C (n.4216+13963A>C)
c.4661A>C (p.Gln1554Pro)
c.4634A>C (p.Gln1545Pro)
c.*75A>C (n.*75A>C)
c.3068A>C (p.Gln1023Pro)
n.5052A>C
n.4526+13963A>C
c.4625A>C (p.Gln1542Pro)
n.5068A>C
n.4814A>C
n.4542+13963A>C
2g.227008086G>ACA351140581COL4A4c.343C>T (p.Gln115Ter)
c.4741C>T (p.Gln1581Ter)
c.4186C>T (p.Gln1396Ter)
c.4552C>T (p.Gln1518Ter)
c.4216+13962C>T (n.4216+13962C>T)
c.4660C>T (p.Gln1554Ter)
c.4633C>T (p.Gln1545Ter)
c.*74C>T (n.*74C>T)
c.3067C>T (p.Gln1023Ter)
n.5051C>T
n.4526+13962C>T
c.4624C>T (p.Gln1542Ter)
n.5067C>T
n.4813C>T
n.4542+13962C>T
2g.227008086G>CCA351140582COL4A4c.343C>G (p.Gln115Glu)
c.4741C>G (p.Gln1581Glu)
c.4186C>G (p.Gln1396Glu)
c.4552C>G (p.Gln1518Glu)
c.4216+13962C>G (n.4216+13962C>G)
c.4660C>G (p.Gln1554Glu)
c.4633C>G (p.Gln1545Glu)
c.*74C>G (n.*74C>G)
c.3067C>G (p.Gln1023Glu)
n.5051C>G
n.4526+13962C>G
c.4624C>G (p.Gln1542Glu)
n.5067C>G
n.4813C>G
n.4542+13962C>G
2g.227008086G>TCA351140583COL4A4c.343C>A (p.Gln115Lys)
c.4741C>A (p.Gln1581Lys)
c.4186C>A (p.Gln1396Lys)
c.4552C>A (p.Gln1518Lys)
c.4216+13962C>A (n.4216+13962C>A)
c.4660C>A (p.Gln1554Lys)
c.4633C>A (p.Gln1545Lys)
c.*74C>A (n.*74C>A)
c.3067C>A (p.Gln1023Lys)
n.5051C>A
n.4526+13962C>A
c.4624C>A (p.Gln1542Lys)
n.5067C>A
n.4813C>A
n.4542+13962C>A
2g.227008087G>ACA431672096COL4A4c.342C>T (p.Ser114=)
c.4740C>T (p.Ser1580=)
c.4185C>T (p.Ser1395=)
c.4551C>T (p.Ser1517=)
c.4216+13961C>T (n.4216+13961C>T)
c.4659C>T (p.Ser1553=)
c.4632C>T (p.Ser1544=)
c.*73C>T (n.*73C>T)
c.3066C>T (p.Ser1022=)
n.5050C>T
n.4526+13961C>T
c.4623C>T (p.Ser1541=)
n.5066C>T
n.4812C>T
n.4542+13961C>T
2g.227008087G>CCA351140585COL4A4c.342C>G (p.Ser114Arg)
c.4740C>G (p.Ser1580Arg)
c.4185C>G (p.Ser1395Arg)
c.4551C>G (p.Ser1517Arg)
c.4216+13961C>G (n.4216+13961C>G)
c.4659C>G (p.Ser1553Arg)
c.4632C>G (p.Ser1544Arg)
c.*73C>G (n.*73C>G)
c.3066C>G (p.Ser1022Arg)
n.5050C>G
n.4526+13961C>G
c.4623C>G (p.Ser1541Arg)
n.5066C>G
n.4812C>G
n.4542+13961C>G
2g.227008087G>TCA351140584COL4A4c.342C>A (p.Ser114Arg)
c.4740C>A (p.Ser1580Arg)
c.4185C>A (p.Ser1395Arg)
c.4551C>A (p.Ser1517Arg)
c.4216+13961C>A (n.4216+13961C>A)
c.4659C>A (p.Ser1553Arg)
c.4632C>A (p.Ser1544Arg)
c.*73C>A (n.*73C>A)
c.3066C>A (p.Ser1022Arg)
n.5050C>A
n.4526+13961C>A
c.4623C>A (p.Ser1541Arg)
n.5066C>A
n.4812C>A
n.4542+13961C>A
2g.227008088C>ACA351140586COL4A4c.341G>T (p.Ser114Ile)
c.4739G>T (p.Ser1580Ile)
c.4184G>T (p.Ser1395Ile)
c.4550G>T (p.Ser1517Ile)
c.4216+13960G>T (n.4216+13960G>T)
c.4658G>T (p.Ser1553Ile)
c.4631G>T (p.Ser1544Ile)
c.*72G>T (n.*72G>T)
c.3065G>T (p.Ser1022Ile)
n.5049G>T
n.4526+13960G>T
c.4622G>T (p.Ser1541Ile)
n.5065G>T
n.4811G>T
n.4542+13960G>T
2g.227008088C=CA1332723896COL4A4c.341G= (p.Ser114=)
c.4739G= (p.Ser1580=)
c.4184G= (p.Ser1395=)
c.4550G= (p.Ser1517=)
c.4216+13960G= (n.4216+13960G=)
c.4658G= (p.Ser1553=)
c.4631G= (p.Ser1544=)
c.*72G= (n.*72G=)
c.3065G= (p.Ser1022=)
n.5049G=
n.4526+13960G=
c.4622G= (p.Ser1541=)
n.5065G=
n.4811G=
n.4542+13960G=
2g.227008088C>GCA351140587COL4A4c.341G>C (p.Ser114Thr)
c.4739G>C (p.Ser1580Thr)
c.4184G>C (p.Ser1395Thr)
c.4550G>C (p.Ser1517Thr)
c.4216+13960G>C (n.4216+13960G>C)
c.4658G>C (p.Ser1553Thr)
c.4631G>C (p.Ser1544Thr)
c.*72G>C (n.*72G>C)
c.3065G>C (p.Ser1022Thr)
n.5049G>C
n.4526+13960G>C
c.4622G>C (p.Ser1541Thr)
n.5065G>C
n.4811G>C
n.4542+13960G>C
2g.227008088C>TCA2144080COL4A4c.341G>A (p.Ser114Asn)
c.4739G>A (p.Ser1580Asn)
c.4184G>A (p.Ser1395Asn)
c.4550G>A (p.Ser1517Asn)
c.4216+13960G>A (n.4216+13960G>A)
c.4658G>A (p.Ser1553Asn)
c.4631G>A (p.Ser1544Asn)
c.*72G>A (n.*72G>A)
c.3065G>A (p.Ser1022Asn)
n.5049G>A
n.4526+13960G>A
c.4622G>A (p.Ser1541Asn)
n.5065G>A
n.4811G>A
n.4542+13960G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008089T>ACA351140588COL4A4c.340A>T (p.Ser114Cys)
c.4738A>T (p.Ser1580Cys)
c.4183A>T (p.Ser1395Cys)
c.4549A>T (p.Ser1517Cys)
c.4216+13959A>T (n.4216+13959A>T)
c.4657A>T (p.Ser1553Cys)
c.4630A>T (p.Ser1544Cys)
c.*71A>T (n.*71A>T)
c.3064A>T (p.Ser1022Cys)
n.5048A>T
n.4526+13959A>T
c.4621A>T (p.Ser1541Cys)
n.5064A>T
n.4810A>T
n.4542+13959A>T
2g.227008089T>CCA67238294COL4A4c.340A>G (p.Ser114Gly)
c.4738A>G (p.Ser1580Gly)
c.4183A>G (p.Ser1395Gly)
c.4549A>G (p.Ser1517Gly)
c.4216+13959A>G (n.4216+13959A>G)
c.4657A>G (p.Ser1553Gly)
c.4630A>G (p.Ser1544Gly)
c.*71A>G (n.*71A>G)
c.3064A>G (p.Ser1022Gly)
n.5048A>G
n.4526+13959A>G
c.4621A>G (p.Ser1541Gly)
n.5064A>G
n.4810A>G
n.4542+13959A>G
 dbSNP gnomAD v3 gnomAD v4
2g.227008089T>GCA351140589COL4A4c.340A>C (p.Ser114Arg)
c.4738A>C (p.Ser1580Arg)
c.4183A>C (p.Ser1395Arg)
c.4549A>C (p.Ser1517Arg)
c.4216+13959A>C (n.4216+13959A>C)
c.4657A>C (p.Ser1553Arg)
c.4630A>C (p.Ser1544Arg)
c.*71A>C (n.*71A>C)
c.3064A>C (p.Ser1022Arg)
n.5048A>C
n.4526+13959A>C
c.4621A>C (p.Ser1541Arg)
n.5064A>C
n.4810A>C
n.4542+13959A>C
2g.227008089T=CA1332723897COL4A4c.340A= (p.Ser114=)
c.4738A= (p.Ser1580=)
c.4183A= (p.Ser1395=)
c.4549A= (p.Ser1517=)
c.4216+13959A= (n.4216+13959A=)
c.4657A= (p.Ser1553=)
c.4630A= (p.Ser1544=)
c.*71A= (n.*71A=)
c.3064A= (p.Ser1022=)
n.5048A=
n.4526+13959A=
c.4621A= (p.Ser1541=)
n.5064A=
n.4810A=
n.4542+13959A=
2g.227008090G>ACA431672097COL4A4c.339C>T (p.His113=)
c.4737C>T (p.His1579=)
c.4182C>T (p.His1394=)
c.4548C>T (p.His1516=)
c.4216+13958C>T (n.4216+13958C>T)
c.4656C>T (p.His1552=)
c.4629C>T (p.His1543=)
c.*70C>T (n.*70C>T)
c.3063C>T (p.His1021=)
n.5047C>T
n.4526+13958C>T
c.4620C>T (p.His1540=)
n.5063C>T
n.4809C>T
n.4542+13958C>T
 ClinVar gnomAD v4
2g.227008090G>CCA351140591COL4A4c.339C>G (p.His113Gln)
c.4737C>G (p.His1579Gln)
c.4182C>G (p.His1394Gln)
c.4548C>G (p.His1516Gln)
c.4216+13958C>G (n.4216+13958C>G)
c.4656C>G (p.His1552Gln)
c.4629C>G (p.His1543Gln)
c.*70C>G (n.*70C>G)
c.3063C>G (p.His1021Gln)
n.5047C>G
n.4526+13958C>G
c.4620C>G (p.His1540Gln)
n.5063C>G
n.4809C>G
n.4542+13958C>G
2g.227008090G>TCA351140590COL4A4c.339C>A (p.His113Gln)
c.4737C>A (p.His1579Gln)
c.4182C>A (p.His1394Gln)
c.4548C>A (p.His1516Gln)
c.4216+13958C>A (n.4216+13958C>A)
c.4656C>A (p.His1552Gln)
c.4629C>A (p.His1543Gln)
c.*70C>A (n.*70C>A)
c.3063C>A (p.His1021Gln)
n.5047C>A
n.4526+13958C>A
c.4620C>A (p.His1540Gln)
n.5063C>A
n.4809C>A
n.4542+13958C>A
2g.227008091T>ACA351140592COL4A4c.338A>T (p.His113Leu)
c.4736A>T (p.His1579Leu)
c.4181A>T (p.His1394Leu)
c.4547A>T (p.His1516Leu)
c.4216+13957A>T (n.4216+13957A>T)
c.4655A>T (p.His1552Leu)
c.4628A>T (p.His1543Leu)
c.*69A>T (n.*69A>T)
c.3062A>T (p.His1021Leu)
n.5046A>T
n.4526+13957A>T
c.4619A>T (p.His1540Leu)
n.5062A>T
n.4808A>T
n.4542+13957A>T
2g.227008091T>CCA351140593COL4A4c.338A>G (p.His113Arg)
c.4736A>G (p.His1579Arg)
c.4181A>G (p.His1394Arg)
c.4547A>G (p.His1516Arg)
c.4216+13957A>G (n.4216+13957A>G)
c.4655A>G (p.His1552Arg)
c.4628A>G (p.His1543Arg)
c.*69A>G (n.*69A>G)
c.3062A>G (p.His1021Arg)
n.5046A>G
n.4526+13957A>G
c.4619A>G (p.His1540Arg)
n.5062A>G
n.4808A>G
n.4542+13957A>G
2g.227008091T>GCA351140594COL4A4c.338A>C (p.His113Pro)
c.4736A>C (p.His1579Pro)
c.4181A>C (p.His1394Pro)
c.4547A>C (p.His1516Pro)
c.4216+13957A>C (n.4216+13957A>C)
c.4655A>C (p.His1552Pro)
c.4628A>C (p.His1543Pro)
c.*69A>C (n.*69A>C)
c.3062A>C (p.His1021Pro)
n.5046A>C
n.4526+13957A>C
c.4619A>C (p.His1540Pro)
n.5062A>C
n.4808A>C
n.4542+13957A>C
2g.227008092G>ACA351140595COL4A4c.337C>T (p.His113Tyr)
c.4735C>T (p.His1579Tyr)
c.4180C>T (p.His1394Tyr)
c.4546C>T (p.His1516Tyr)
c.4216+13956C>T (n.4216+13956C>T)
c.4654C>T (p.His1552Tyr)
c.4627C>T (p.His1543Tyr)
c.*68C>T (n.*68C>T)
c.3061C>T (p.His1021Tyr)
n.5045C>T
n.4526+13956C>T
c.4618C>T (p.His1540Tyr)
n.5061C>T
n.4807C>T
n.4542+13956C>T
2g.227008092G>CCA351140596COL4A4c.337C>G (p.His113Asp)
c.4735C>G (p.His1579Asp)
c.4180C>G (p.His1394Asp)
c.4546C>G (p.His1516Asp)
c.4216+13956C>G (n.4216+13956C>G)
c.4654C>G (p.His1552Asp)
c.4627C>G (p.His1543Asp)
c.*68C>G (n.*68C>G)
c.3061C>G (p.His1021Asp)
n.5045C>G
n.4526+13956C>G
c.4618C>G (p.His1540Asp)
n.5061C>G
n.4807C>G
n.4542+13956C>G
2g.227008092G>TCA351140597COL4A4c.337C>A (p.His113Asn)
c.4735C>A (p.His1579Asn)
c.4180C>A (p.His1394Asn)
c.4546C>A (p.His1516Asn)
c.4216+13956C>A (n.4216+13956C>A)
c.4654C>A (p.His1552Asn)
c.4627C>A (p.His1543Asn)
c.*68C>A (n.*68C>A)
c.3061C>A (p.His1021Asn)
n.5045C>A
n.4526+13956C>A
c.4618C>A (p.His1540Asn)
n.5061C>A
n.4807C>A
n.4542+13956C>A
2g.227008093C>ACA431672098COL4A4c.336G>T (p.Val112=)
c.4734G>T (p.Val1578=)
c.4179G>T (p.Val1393=)
c.4545G>T (p.Val1515=)
c.4216+13955G>T (n.4216+13955G>T)
c.4653G>T (p.Val1551=)
c.4626G>T (p.Val1542=)
c.*67G>T (n.*67G>T)
c.3060G>T (p.Val1020=)
n.5044G>T
n.4526+13955G>T
c.4617G>T (p.Val1539=)
n.5060G>T
n.4806G>T
n.4542+13955G>T
2g.227008093C>GCA431672100COL4A4c.336G>C (p.Val112=)
c.4734G>C (p.Val1578=)
c.4179G>C (p.Val1393=)
c.4545G>C (p.Val1515=)
c.4216+13955G>C (n.4216+13955G>C)
c.4653G>C (p.Val1551=)
c.4626G>C (p.Val1542=)
c.*67G>C (n.*67G>C)
c.3060G>C (p.Val1020=)
n.5044G>C
n.4526+13955G>C
c.4617G>C (p.Val1539=)
n.5060G>C
n.4806G>C
n.4542+13955G>C
 ClinVar
2g.227008093C>TCA431672102COL4A4c.336G>A (p.Val112=)
c.4734G>A (p.Val1578=)
c.4179G>A (p.Val1393=)
c.4545G>A (p.Val1515=)
c.4216+13955G>A (n.4216+13955G>A)
c.4653G>A (p.Val1551=)
c.4626G>A (p.Val1542=)
c.*67G>A (n.*67G>A)
c.3060G>A (p.Val1020=)
n.5044G>A
n.4526+13955G>A
c.4617G>A (p.Val1539=)
n.5060G>A
n.4806G>A
n.4542+13955G>A
 ClinVar dbSNP
2g.227008094A=CA1332723898COL4A4c.335T= (p.Val112=)
c.4733T= (p.Val1578=)
c.4178T= (p.Val1393=)
c.4544T= (p.Val1515=)
c.4216+13954T= (n.4216+13954T=)
c.4652T= (p.Val1551=)
c.4625T= (p.Val1542=)
c.*66T= (n.*66T=)
c.3059T= (p.Val1020=)
n.5043T=
n.4526+13954T=
c.4616T= (p.Val1539=)
n.5059T=
n.4805T=
n.4542+13954T=
2g.227008094A>CCA351140598COL4A4c.335T>G (p.Val112Gly)
c.4733T>G (p.Val1578Gly)
c.4178T>G (p.Val1393Gly)
c.4544T>G (p.Val1515Gly)
c.4216+13954T>G (n.4216+13954T>G)
c.4652T>G (p.Val1551Gly)
c.4625T>G (p.Val1542Gly)
c.*66T>G (n.*66T>G)
c.3059T>G (p.Val1020Gly)
n.5043T>G
n.4526+13954T>G
c.4616T>G (p.Val1539Gly)
n.5059T>G
n.4805T>G
n.4542+13954T>G
 dbSNP
2g.227008094A>GCA351140600COL4A4c.335T>C (p.Val112Ala)
c.4733T>C (p.Val1578Ala)
c.4178T>C (p.Val1393Ala)
c.4544T>C (p.Val1515Ala)
c.4216+13954T>C (n.4216+13954T>C)
c.4652T>C (p.Val1551Ala)
c.4625T>C (p.Val1542Ala)
c.*66T>C (n.*66T>C)
c.3059T>C (p.Val1020Ala)
n.5043T>C
n.4526+13954T>C
c.4616T>C (p.Val1539Ala)
n.5059T>C
n.4805T>C
n.4542+13954T>C
2g.227008094A>TCA351140599COL4A4c.335T>A (p.Val112Glu)
c.4733T>A (p.Val1578Glu)
c.4178T>A (p.Val1393Glu)
c.4544T>A (p.Val1515Glu)
c.4216+13954T>A (n.4216+13954T>A)
c.4652T>A (p.Val1551Glu)
c.4625T>A (p.Val1542Glu)
c.*66T>A (n.*66T>A)
c.3059T>A (p.Val1020Glu)
n.5043T>A
n.4526+13954T>A
c.4616T>A (p.Val1539Glu)
n.5059T>A
n.4805T>A
n.4542+13954T>A
2g.227008094_227008097delinsACCGCA1332723899COL4A4c.332_335delinsCGGT (p.Ala111=)
c.4730_4733delinsCGGT (p.Ala1577=)
c.4175_4178delinsCGGT (p.Ala1392=)
c.4541_4544delinsCGGT (p.Ala1514=)
c.4216+13951_4216+13954delinsCGGT (n.4216+13951_4216+13954delinsCGGT)
c.4649_4652delinsCGGT (p.Ala1550=)
c.4622_4625delinsCGGT (p.Ala1541=)
c.*63_*66delinsCGGT (n.*63_*66delinsCGGT)
c.3056_3059delinsCGGT (p.Ala1019=)
n.5040_5043delinsCGGT
n.4526+13951_4526+13954delinsCGGT
c.4613_4616delinsCGGT (p.Ala1538=)
n.5056_5059delinsCGGT
n.4802_4805delinsCGGT
n.4542+13951_4542+13954delinsCGGT
2g.227008095C>ACA351140601COL4A4c.334G>T (p.Val112Leu)
c.4732G>T (p.Val1578Leu)
c.4177G>T (p.Val1393Leu)
c.4543G>T (p.Val1515Leu)
c.4216+13953G>T (n.4216+13953G>T)
c.4651G>T (p.Val1551Leu)
c.4624G>T (p.Val1542Leu)
c.*65G>T (n.*65G>T)
c.3058G>T (p.Val1020Leu)
n.5042G>T
n.4526+13953G>T
c.4615G>T (p.Val1539Leu)
n.5058G>T
n.4804G>T
n.4542+13953G>T
 dbSNP gnomAD v2 gnomAD v4
2g.227008095C=CA1332723900COL4A4c.334G= (p.Val112=)
c.4732G= (p.Val1578=)
c.4177G= (p.Val1393=)
c.4543G= (p.Val1515=)
c.4216+13953G= (n.4216+13953G=)
c.4651G= (p.Val1551=)
c.4624G= (p.Val1542=)
c.*65G= (n.*65G=)
c.3058G= (p.Val1020=)
n.5042G=
n.4526+13953G=
c.4615G= (p.Val1539=)
n.5058G=
n.4804G=
n.4542+13953G=
2g.227008095C>GCA351140603COL4A4c.334G>C (p.Val112Leu)
c.4732G>C (p.Val1578Leu)
c.4177G>C (p.Val1393Leu)
c.4543G>C (p.Val1515Leu)
c.4216+13953G>C (n.4216+13953G>C)
c.4651G>C (p.Val1551Leu)
c.4624G>C (p.Val1542Leu)
c.*65G>C (n.*65G>C)
c.3058G>C (p.Val1020Leu)
n.5042G>C
n.4526+13953G>C
c.4615G>C (p.Val1539Leu)
n.5058G>C
n.4804G>C
n.4542+13953G>C
2g.227008095C>TCA351140602COL4A4c.334G>A (p.Val112Met)
c.4732G>A (p.Val1578Met)
c.4177G>A (p.Val1393Met)
c.4543G>A (p.Val1515Met)
c.4216+13953G>A (n.4216+13953G>A)
c.4651G>A (p.Val1551Met)
c.4624G>A (p.Val1542Met)
c.*65G>A (n.*65G>A)
c.3058G>A (p.Val1020Met)
n.5042G>A
n.4526+13953G>A
c.4615G>A (p.Val1539Met)
n.5058G>A
n.4804G>A
n.4542+13953G>A
2g.227008097_227008099delCA913190003COL4A4c.332_334del (p.Ala111del)
c.4730_4732del (p.Ala1577del)
c.4175_4177del (p.Ala1392del)
c.4541_4543del (p.Ala1514del)
c.4216+13951_4216+13953del (n.4216+13951_4216+13953del)
c.4649_4651del (p.Ala1550del)
c.4622_4624del (p.Ala1541del)
c.*63_*65del (n.*63_*65del)
c.3056_3058del (p.Ala1019del)
n.5040_5042del
n.4526+13951_4526+13953del
c.4613_4615del (p.Ala1538del)
n.5056_5058del
n.4802_4804del
n.4542+13951_4542+13953del
 ClinVar dbSNP
2g.227008096C>ACA431672104COL4A4c.333G>T (p.Ala111=)
c.4731G>T (p.Ala1577=)
c.4176G>T (p.Ala1392=)
c.4542G>T (p.Ala1514=)
c.4216+13952G>T (n.4216+13952G>T)
c.4650G>T (p.Ala1550=)
c.4623G>T (p.Ala1541=)
c.*64G>T (n.*64G>T)
c.3057G>T (p.Ala1019=)
n.5041G>T
n.4526+13952G>T
c.4614G>T (p.Ala1538=)
n.5057G>T
n.4803G>T
n.4542+13952G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227008096C=CA1332723901COL4A4c.333G= (p.Ala111=)
c.4731G= (p.Ala1577=)
c.4176G= (p.Ala1392=)
c.4542G= (p.Ala1514=)
c.4216+13952G= (n.4216+13952G=)
c.4650G= (p.Ala1550=)
c.4623G= (p.Ala1541=)
c.*64G= (n.*64G=)
c.3057G= (p.Ala1019=)
n.5041G=
n.4526+13952G=
c.4614G= (p.Ala1538=)
n.5057G=
n.4803G=
n.4542+13952G=
2g.227008096C>GCA431672105COL4A4c.333G>C (p.Ala111=)
c.4731G>C (p.Ala1577=)
c.4176G>C (p.Ala1392=)
c.4542G>C (p.Ala1514=)
c.4216+13952G>C (n.4216+13952G>C)
c.4650G>C (p.Ala1550=)
c.4623G>C (p.Ala1541=)
c.*64G>C (n.*64G>C)
c.3057G>C (p.Ala1019=)
n.5041G>C
n.4526+13952G>C
c.4614G>C (p.Ala1538=)
n.5057G>C
n.4803G>C
n.4542+13952G>C
2g.227008096C>TCA2144081COL4A4c.333G>A (p.Ala111=)
c.4731G>A (p.Ala1577=)
c.4176G>A (p.Ala1392=)
c.4542G>A (p.Ala1514=)
c.4216+13952G>A (n.4216+13952G>A)
c.4650G>A (p.Ala1550=)
c.4623G>A (p.Ala1541=)
c.*64G>A (n.*64G>A)
c.3057G>A (p.Ala1019=)
n.5041G>A
n.4526+13952G>A
c.4614G>A (p.Ala1538=)
n.5057G>A
n.4803G>A
n.4542+13952G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008097G>ACA2144082COL4A4c.332C>T (p.Ala111Val)
c.4730C>T (p.Ala1577Val)
c.4175C>T (p.Ala1392Val)
c.4541C>T (p.Ala1514Val)
c.4216+13951C>T (n.4216+13951C>T)
c.4649C>T (p.Ala1550Val)
c.4622C>T (p.Ala1541Val)
c.*63C>T (n.*63C>T)
c.3056C>T (p.Ala1019Val)
n.5040C>T
n.4526+13951C>T
c.4613C>T (p.Ala1538Val)
n.5056C>T
n.4802C>T
n.4542+13951C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008097G>CCA351140604COL4A4c.332C>G (p.Ala111Gly)
c.4730C>G (p.Ala1577Gly)
c.4175C>G (p.Ala1392Gly)
c.4541C>G (p.Ala1514Gly)
c.4216+13951C>G (n.4216+13951C>G)
c.4649C>G (p.Ala1550Gly)
c.4622C>G (p.Ala1541Gly)
c.*63C>G (n.*63C>G)
c.3056C>G (p.Ala1019Gly)
n.5040C>G
n.4526+13951C>G
c.4613C>G (p.Ala1538Gly)
n.5056C>G
n.4802C>G
n.4542+13951C>G
2g.227008097G=CA1332723902COL4A4c.332C= (p.Ala111=)
c.4730C= (p.Ala1577=)
c.4175C= (p.Ala1392=)
c.4541C= (p.Ala1514=)
c.4216+13951C= (n.4216+13951C=)
c.4649C= (p.Ala1550=)
c.4622C= (p.Ala1541=)
c.*63C= (n.*63C=)
c.3056C= (p.Ala1019=)
n.5040C=
n.4526+13951C=
c.4613C= (p.Ala1538=)
n.5056C=
n.4802C=
n.4542+13951C=
2g.227008097G>TCA351140605COL4A4c.332C>A (p.Ala111Glu)
c.4730C>A (p.Ala1577Glu)
c.4175C>A (p.Ala1392Glu)
c.4541C>A (p.Ala1514Glu)
c.4216+13951C>A (n.4216+13951C>A)
c.4649C>A (p.Ala1550Glu)
c.4622C>A (p.Ala1541Glu)
c.*63C>A (n.*63C>A)
c.3056C>A (p.Ala1019Glu)
n.5040C>A
n.4526+13951C>A
c.4613C>A (p.Ala1538Glu)
n.5056C>A
n.4802C>A
n.4542+13951C>A
2g.227008098C>ACA351140606COL4A4c.331G>T (p.Ala111Ser)
c.4729G>T (p.Ala1577Ser)
c.4174G>T (p.Ala1392Ser)
c.4540G>T (p.Ala1514Ser)
c.4216+13950G>T (n.4216+13950G>T)
c.4648G>T (p.Ala1550Ser)
c.4621G>T (p.Ala1541Ser)
c.*62G>T (n.*62G>T)
c.3055G>T (p.Ala1019Ser)
n.5039G>T
n.4526+13950G>T
c.4612G>T (p.Ala1538Ser)
n.5055G>T
n.4801G>T
n.4542+13950G>T
2g.227008098C>GCA351140607COL4A4c.331G>C (p.Ala111Pro)
c.4729G>C (p.Ala1577Pro)
c.4174G>C (p.Ala1392Pro)
c.4540G>C (p.Ala1514Pro)
c.4216+13950G>C (n.4216+13950G>C)
c.4648G>C (p.Ala1550Pro)
c.4621G>C (p.Ala1541Pro)
c.*62G>C (n.*62G>C)
c.3055G>C (p.Ala1019Pro)
n.5039G>C
n.4526+13950G>C
c.4612G>C (p.Ala1538Pro)
n.5055G>C
n.4801G>C
n.4542+13950G>C
2g.227008098C>TCA351140608COL4A4c.331G>A (p.Ala111Thr)
c.4729G>A (p.Ala1577Thr)
c.4174G>A (p.Ala1392Thr)
c.4540G>A (p.Ala1514Thr)
c.4216+13950G>A (n.4216+13950G>A)
c.4648G>A (p.Ala1550Thr)
c.4621G>A (p.Ala1541Thr)
c.*62G>A (n.*62G>A)
c.3055G>A (p.Ala1019Thr)
n.5039G>A
n.4526+13950G>A
c.4612G>A (p.Ala1538Thr)
n.5055G>A
n.4801G>A
n.4542+13950G>A
2g.227008099C>ACA431672106COL4A4c.330G>T (p.Val110=)
c.4728G>T (p.Val1576=)
c.4173G>T (p.Val1391=)
c.4539G>T (p.Val1513=)
c.4216+13949G>T (n.4216+13949G>T)
c.4647G>T (p.Val1549=)
c.4620G>T (p.Val1540=)
c.*61G>T (n.*61G>T)
c.3054G>T (p.Val1018=)
n.5038G>T
n.4526+13949G>T
c.4611G>T (p.Val1537=)
n.5054G>T
n.4800G>T
n.4542+13949G>T
 dbSNP gnomAD v2 gnomAD v4
2g.227008099C=CA1332723903COL4A4c.330G= (p.Val110=)
c.4728G= (p.Val1576=)
c.4173G= (p.Val1391=)
c.4539G= (p.Val1513=)
c.4216+13949G= (n.4216+13949G=)
c.4647G= (p.Val1549=)
c.4620G= (p.Val1540=)
c.*61G= (n.*61G=)
c.3054G= (p.Val1018=)
n.5038G=
n.4526+13949G=
c.4611G= (p.Val1537=)
n.5054G=
n.4800G=
n.4542+13949G=
2g.227008099C>GCA431672107COL4A4c.330G>C (p.Val110=)
c.4728G>C (p.Val1576=)
c.4173G>C (p.Val1391=)
c.4539G>C (p.Val1513=)
c.4216+13949G>C (n.4216+13949G>C)
c.4647G>C (p.Val1549=)
c.4620G>C (p.Val1540=)
c.*61G>C (n.*61G>C)
c.3054G>C (p.Val1018=)
n.5038G>C
n.4526+13949G>C
c.4611G>C (p.Val1537=)
n.5054G>C
n.4800G>C
n.4542+13949G>C
2g.227008099C>TCA431672108COL4A4c.330G>A (p.Val110=)
c.4728G>A (p.Val1576=)
c.4173G>A (p.Val1391=)
c.4539G>A (p.Val1513=)
c.4216+13949G>A (n.4216+13949G>A)
c.4647G>A (p.Val1549=)
c.4620G>A (p.Val1540=)
c.*61G>A (n.*61G>A)
c.3054G>A (p.Val1018=)
n.5038G>A
n.4526+13949G>A
c.4611G>A (p.Val1537=)
n.5054G>A
n.4800G>A
n.4542+13949G>A
2g.227008100A=CA1332723904COL4A4c.329T= (p.Val110=)
c.4727T= (p.Val1576=)
c.4172T= (p.Val1391=)
c.4538T= (p.Val1513=)
c.4216+13948T= (n.4216+13948T=)
c.4646T= (p.Val1549=)
c.4619T= (p.Val1540=)
c.*60T= (n.*60T=)
c.3053T= (p.Val1018=)
n.5037T=
n.4526+13948T=
c.4610T= (p.Val1537=)
n.5053T=
n.4799T=
n.4542+13948T=
2g.227008100A>CCA351140609COL4A4c.329T>G (p.Val110Gly)
c.4727T>G (p.Val1576Gly)
c.4172T>G (p.Val1391Gly)
c.4538T>G (p.Val1513Gly)
c.4216+13948T>G (n.4216+13948T>G)
c.4646T>G (p.Val1549Gly)
c.4619T>G (p.Val1540Gly)
c.*60T>G (n.*60T>G)
c.3053T>G (p.Val1018Gly)
n.5037T>G
n.4526+13948T>G
c.4610T>G (p.Val1537Gly)
n.5053T>G
n.4799T>G
n.4542+13948T>G
 dbSNP
2g.227008100A>GCA67238295COL4A4c.329T>C (p.Val110Ala)
c.4727T>C (p.Val1576Ala)
c.4172T>C (p.Val1391Ala)
c.4538T>C (p.Val1513Ala)
c.4216+13948T>C (n.4216+13948T>C)
c.4646T>C (p.Val1549Ala)
c.4619T>C (p.Val1540Ala)
c.*60T>C (n.*60T>C)
c.3053T>C (p.Val1018Ala)
n.5037T>C
n.4526+13948T>C
c.4610T>C (p.Val1537Ala)
n.5053T>C
n.4799T>C
n.4542+13948T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227008100A>TCA351140610COL4A4c.329T>A (p.Val110Glu)
c.4727T>A (p.Val1576Glu)
c.4172T>A (p.Val1391Glu)
c.4538T>A (p.Val1513Glu)
c.4216+13948T>A (n.4216+13948T>A)
c.4646T>A (p.Val1549Glu)
c.4619T>A (p.Val1540Glu)
c.*60T>A (n.*60T>A)
c.3053T>A (p.Val1018Glu)
n.5037T>A
n.4526+13948T>A
c.4610T>A (p.Val1537Glu)
n.5053T>A
n.4799T>A
n.4542+13948T>A
2g.227008105_227008128dupCA2144083COL4A4c.306_329dup (p.Val110_Ala111insCysGluAlaProAlaGlnAlaVal)
c.4704_4727dup (p.Val1576_Ala1577insCysGluAlaProAlaGlnAlaVal)
c.4149_4172dup (p.Val1391_Ala1392insCysGluAlaProAlaGlnAlaVal)
c.4515_4538dup (p.Val1513_Ala1514insCysGluAlaProAlaGlnAlaVal)
c.4216+13925_4216+13948dup (n.4216+13925_4216+13948dup)
c.4623_4646dup (p.Val1549_Ala1550insCysGluAlaProAlaGlnAlaVal)
c.4596_4619dup (p.Val1540_Ala1541insCysGluAlaProAlaGlnAlaVal)
c.*37_*60dup (n.*37_*60dup)
c.3030_3053dup (p.Val1018_Ala1019insCysGluAlaProAlaGlnAlaVal)
n.5014_5037dup
n.4526+13925_4526+13948dup
c.4587_4610dup (p.Val1537_Ala1538insCysGluAlaProAlaGlnAlaVal)
n.5030_5053dup
n.4776_4799dup
n.4542+13925_4542+13948dup
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008101C>ACA351140613COL4A4c.328G>T (p.Val110Leu)
c.4726G>T (p.Val1576Leu)
c.4171G>T (p.Val1391Leu)
c.4537G>T (p.Val1513Leu)
c.4216+13947G>T (n.4216+13947G>T)
c.4645G>T (p.Val1549Leu)
c.4618G>T (p.Val1540Leu)
c.*59G>T (n.*59G>T)
c.3052G>T (p.Val1018Leu)
n.5036G>T
n.4526+13947G>T
c.4609G>T (p.Val1537Leu)
n.5052G>T
n.4798G>T
n.4542+13947G>T
2g.227008101C>GCA351140612COL4A4c.328G>C (p.Val110Leu)
c.4726G>C (p.Val1576Leu)
c.4171G>C (p.Val1391Leu)
c.4537G>C (p.Val1513Leu)
c.4216+13947G>C (n.4216+13947G>C)
c.4645G>C (p.Val1549Leu)
c.4618G>C (p.Val1540Leu)
c.*59G>C (n.*59G>C)
c.3052G>C (p.Val1018Leu)
n.5036G>C
n.4526+13947G>C
c.4609G>C (p.Val1537Leu)
n.5052G>C
n.4798G>C
n.4542+13947G>C
2g.227008101C>TCA351140611COL4A4c.328G>A (p.Val110Met)
c.4726G>A (p.Val1576Met)
c.4171G>A (p.Val1391Met)
c.4537G>A (p.Val1513Met)
c.4216+13947G>A (n.4216+13947G>A)
c.4645G>A (p.Val1549Met)
c.4618G>A (p.Val1540Met)
c.*59G>A (n.*59G>A)
c.3052G>A (p.Val1018Met)
n.5036G>A
n.4526+13947G>A
c.4609G>A (p.Val1537Met)
n.5052G>A
n.4798G>A
n.4542+13947G>A
2g.227008102C>ACA431672109COL4A4c.327G>T (p.Ala109=)
c.4725G>T (p.Ala1575=)
c.4170G>T (p.Ala1390=)
c.4536G>T (p.Ala1512=)
c.4216+13946G>T (n.4216+13946G>T)
c.4644G>T (p.Ala1548=)
c.4617G>T (p.Ala1539=)
c.*58G>T (n.*58G>T)
c.3051G>T (p.Ala1017=)
n.5035G>T
n.4526+13946G>T
c.4608G>T (p.Ala1536=)
n.5051G>T
n.4797G>T
n.4542+13946G>T
2g.227008102C=CA1332723905COL4A4c.327G= (p.Ala109=)
c.4725G= (p.Ala1575=)
c.4170G= (p.Ala1390=)
c.4536G= (p.Ala1512=)
c.4216+13946G= (n.4216+13946G=)
c.4644G= (p.Ala1548=)
c.4617G= (p.Ala1539=)
c.*58G= (n.*58G=)
c.3051G= (p.Ala1017=)
n.5035G=
n.4526+13946G=
c.4608G= (p.Ala1536=)
n.5051G=
n.4797G=
n.4542+13946G=
2g.227008102C>GCA431672110COL4A4c.327G>C (p.Ala109=)
c.4725G>C (p.Ala1575=)
c.4170G>C (p.Ala1390=)
c.4536G>C (p.Ala1512=)
c.4216+13946G>C (n.4216+13946G>C)
c.4644G>C (p.Ala1548=)
c.4617G>C (p.Ala1539=)
c.*58G>C (n.*58G>C)
c.3051G>C (p.Ala1017=)
n.5035G>C
n.4526+13946G>C
c.4608G>C (p.Ala1536=)
n.5051G>C
n.4797G>C
n.4542+13946G>C
 ClinVar
2g.227008102C>TCA10612646COL4A4c.327G>A (p.Ala109=)
c.4725G>A (p.Ala1575=)
c.4170G>A (p.Ala1390=)
c.4536G>A (p.Ala1512=)
c.4216+13946G>A (n.4216+13946G>A)
c.4644G>A (p.Ala1548=)
c.4617G>A (p.Ala1539=)
c.*58G>A (n.*58G>A)
c.3051G>A (p.Ala1017=)
n.5035G>A
n.4526+13946G>A
c.4608G>A (p.Ala1536=)
n.5051G>A
n.4797G>A
n.4542+13946G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008103G>ACA2144084COL4A4c.326C>T (p.Ala109Val)
c.4724C>T (p.Ala1575Val)
c.4169C>T (p.Ala1390Val)
c.4535C>T (p.Ala1512Val)
c.4216+13945C>T (n.4216+13945C>T)
c.4643C>T (p.Ala1548Val)
c.4616C>T (p.Ala1539Val)
c.*57C>T (n.*57C>T)
c.3050C>T (p.Ala1017Val)
n.5034C>T
n.4526+13945C>T
c.4607C>T (p.Ala1536Val)
n.5050C>T
n.4796C>T
n.4542+13945C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008103G>CCA351140614COL4A4c.326C>G (p.Ala109Gly)
c.4724C>G (p.Ala1575Gly)
c.4169C>G (p.Ala1390Gly)
c.4535C>G (p.Ala1512Gly)
c.4216+13945C>G (n.4216+13945C>G)
c.4643C>G (p.Ala1548Gly)
c.4616C>G (p.Ala1539Gly)
c.*57C>G (n.*57C>G)
c.3050C>G (p.Ala1017Gly)
n.5034C>G
n.4526+13945C>G
c.4607C>G (p.Ala1536Gly)
n.5050C>G
n.4796C>G
n.4542+13945C>G
2g.227008103G=CA1332723906COL4A4c.326C= (p.Ala109=)
c.4724C= (p.Ala1575=)
c.4169C= (p.Ala1390=)
c.4535C= (p.Ala1512=)
c.4216+13945C= (n.4216+13945C=)
c.4643C= (p.Ala1548=)
c.4616C= (p.Ala1539=)
c.*57C= (n.*57C=)
c.3050C= (p.Ala1017=)
n.5034C=
n.4526+13945C=
c.4607C= (p.Ala1536=)
n.5050C=
n.4796C=
n.4542+13945C=
2g.227008103G>TCA2144085COL4A4c.326C>A (p.Ala109Glu)
c.4724C>A (p.Ala1575Glu)
c.4169C>A (p.Ala1390Glu)
c.4535C>A (p.Ala1512Glu)
c.4216+13945C>A (n.4216+13945C>A)
c.4643C>A (p.Ala1548Glu)
c.4616C>A (p.Ala1539Glu)
c.*57C>A (n.*57C>A)
c.3050C>A (p.Ala1017Glu)
n.5034C>A
n.4526+13945C>A
c.4607C>A (p.Ala1536Glu)
n.5050C>A
n.4796C>A
n.4542+13945C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008104C>ACA351140615COL4A4c.325G>T (p.Ala109Ser)
c.4723G>T (p.Ala1575Ser)
c.4168G>T (p.Ala1390Ser)
c.4534G>T (p.Ala1512Ser)
c.4216+13944G>T (n.4216+13944G>T)
c.4642G>T (p.Ala1548Ser)
c.4615G>T (p.Ala1539Ser)
c.*56G>T (n.*56G>T)
c.3049G>T (p.Ala1017Ser)
n.5033G>T
n.4526+13944G>T
c.4606G>T (p.Ala1536Ser)
n.5049G>T
n.4795G>T
n.4542+13944G>T
2g.227008104C>GCA351140616COL4A4c.325G>C (p.Ala109Pro)
c.4723G>C (p.Ala1575Pro)
c.4168G>C (p.Ala1390Pro)
c.4534G>C (p.Ala1512Pro)
c.4216+13944G>C (n.4216+13944G>C)
c.4642G>C (p.Ala1548Pro)
c.4615G>C (p.Ala1539Pro)
c.*56G>C (n.*56G>C)
c.3049G>C (p.Ala1017Pro)
n.5033G>C
n.4526+13944G>C
c.4606G>C (p.Ala1536Pro)
n.5049G>C
n.4795G>C
n.4542+13944G>C
2g.227008104C>TCA351140617COL4A4c.325G>A (p.Ala109Thr)
c.4723G>A (p.Ala1575Thr)
c.4168G>A (p.Ala1390Thr)
c.4534G>A (p.Ala1512Thr)
c.4216+13944G>A (n.4216+13944G>A)
c.4642G>A (p.Ala1548Thr)
c.4615G>A (p.Ala1539Thr)
c.*56G>A (n.*56G>A)
c.3049G>A (p.Ala1017Thr)
n.5033G>A
n.4526+13944G>A
c.4606G>A (p.Ala1536Thr)
n.5049G>A
n.4795G>A
n.4542+13944G>A
2g.227008105C>ACA351140618COL4A4c.324G>T (p.Gln108His)
c.4722G>T (p.Gln1574His)
c.4167G>T (p.Gln1389His)
c.4533G>T (p.Gln1511His)
c.4216+13943G>T (n.4216+13943G>T)
c.4641G>T (p.Gln1547His)
c.4614G>T (p.Gln1538His)
c.*55G>T (n.*55G>T)
c.3048G>T (p.Gln1016His)
n.5032G>T
n.4526+13943G>T
c.4605G>T (p.Gln1535His)
n.5048G>T
n.4794G>T
n.4542+13943G>T
2g.227008105C>GCA351140619COL4A4c.324G>C (p.Gln108His)
c.4722G>C (p.Gln1574His)
c.4167G>C (p.Gln1389His)
c.4533G>C (p.Gln1511His)
c.4216+13943G>C (n.4216+13943G>C)
c.4641G>C (p.Gln1547His)
c.4614G>C (p.Gln1538His)
c.*55G>C (n.*55G>C)
c.3048G>C (p.Gln1016His)
n.5032G>C
n.4526+13943G>C
c.4605G>C (p.Gln1535His)
n.5048G>C
n.4794G>C
n.4542+13943G>C
2g.227008105C>TCA431672117COL4A4c.324G>A (p.Gln108=)
c.4722G>A (p.Gln1574=)
c.4167G>A (p.Gln1389=)
c.4533G>A (p.Gln1511=)
c.4216+13943G>A (n.4216+13943G>A)
c.4641G>A (p.Gln1547=)
c.4614G>A (p.Gln1538=)
c.*55G>A (n.*55G>A)
c.3048G>A (p.Gln1016=)
n.5032G>A
n.4526+13943G>A
c.4605G>A (p.Gln1535=)
n.5048G>A
n.4794G>A
n.4542+13943G>A
2g.227008106T>ACA351140620COL4A4c.323A>T (p.Gln108Leu)
c.4721A>T (p.Gln1574Leu)
c.4166A>T (p.Gln1389Leu)
c.4532A>T (p.Gln1511Leu)
c.4216+13942A>T (n.4216+13942A>T)
c.4640A>T (p.Gln1547Leu)
c.4613A>T (p.Gln1538Leu)
c.*54A>T (n.*54A>T)
c.3047A>T (p.Gln1016Leu)
n.5031A>T
n.4526+13942A>T
c.4604A>T (p.Gln1535Leu)
n.5047A>T
n.4793A>T
n.4542+13942A>T
2g.227008106T>CCA351140621COL4A4c.323A>G (p.Gln108Arg)
c.4721A>G (p.Gln1574Arg)
c.4166A>G (p.Gln1389Arg)
c.4532A>G (p.Gln1511Arg)
c.4216+13942A>G (n.4216+13942A>G)
c.4640A>G (p.Gln1547Arg)
c.4613A>G (p.Gln1538Arg)
c.*54A>G (n.*54A>G)
c.3047A>G (p.Gln1016Arg)
n.5031A>G
n.4526+13942A>G
c.4604A>G (p.Gln1535Arg)
n.5047A>G
n.4793A>G
n.4542+13942A>G
2g.227008106T>GCA351140622COL4A4c.323A>C (p.Gln108Pro)
c.4721A>C (p.Gln1574Pro)
c.4166A>C (p.Gln1389Pro)
c.4532A>C (p.Gln1511Pro)
c.4216+13942A>C (n.4216+13942A>C)
c.4640A>C (p.Gln1547Pro)
c.4613A>C (p.Gln1538Pro)
c.*54A>C (n.*54A>C)
c.3047A>C (p.Gln1016Pro)
n.5031A>C
n.4526+13942A>C
c.4604A>C (p.Gln1535Pro)
n.5047A>C
n.4793A>C
n.4542+13942A>C
2g.227008107G>ACA351140625COL4A4c.322C>T (p.Gln108Ter)
c.4720C>T (p.Gln1574Ter)
c.4165C>T (p.Gln1389Ter)
c.4531C>T (p.Gln1511Ter)
c.4216+13941C>T (n.4216+13941C>T)
c.4639C>T (p.Gln1547Ter)
c.4612C>T (p.Gln1538Ter)
c.*53C>T (n.*53C>T)
c.3046C>T (p.Gln1016Ter)
n.5030C>T
n.4526+13941C>T
c.4603C>T (p.Gln1535Ter)
n.5046C>T
n.4792C>T
n.4542+13941C>T
 ClinVar dbSNP
2g.227008107G>CCA351140624COL4A4c.322C>G (p.Gln108Glu)
c.4720C>G (p.Gln1574Glu)
c.4165C>G (p.Gln1389Glu)
c.4531C>G (p.Gln1511Glu)
c.4216+13941C>G (n.4216+13941C>G)
c.4639C>G (p.Gln1547Glu)
c.4612C>G (p.Gln1538Glu)
c.*53C>G (n.*53C>G)
c.3046C>G (p.Gln1016Glu)
n.5030C>G
n.4526+13941C>G
c.4603C>G (p.Gln1535Glu)
n.5046C>G
n.4792C>G
n.4542+13941C>G
2g.227008107G>TCA351140623COL4A4c.322C>A (p.Gln108Lys)
c.4720C>A (p.Gln1574Lys)
c.4165C>A (p.Gln1389Lys)
c.4531C>A (p.Gln1511Lys)
c.4216+13941C>A (n.4216+13941C>A)
c.4639C>A (p.Gln1547Lys)
c.4612C>A (p.Gln1538Lys)
c.*53C>A (n.*53C>A)
c.3046C>A (p.Gln1016Lys)
n.5030C>A
n.4526+13941C>A
c.4603C>A (p.Gln1535Lys)
n.5046C>A
n.4792C>A
n.4542+13941C>A
 ClinVar gnomAD v4
2g.227008108G>ACA431672121COL4A4c.321C>T (p.Ala107=)
c.4719C>T (p.Ala1573=)
c.4164C>T (p.Ala1388=)
c.4530C>T (p.Ala1510=)
c.4216+13940C>T (n.4216+13940C>T)
c.4638C>T (p.Ala1546=)
c.4611C>T (p.Ala1537=)
c.*52C>T (n.*52C>T)
c.3045C>T (p.Ala1015=)
n.5029C>T
n.4526+13940C>T
c.4602C>T (p.Ala1534=)
n.5045C>T
n.4791C>T
n.4542+13940C>T
 gnomAD v4
2g.227008108G>CCA431672122COL4A4c.321C>G (p.Ala107=)
c.4719C>G (p.Ala1573=)
c.4164C>G (p.Ala1388=)
c.4530C>G (p.Ala1510=)
c.4216+13940C>G (n.4216+13940C>G)
c.4638C>G (p.Ala1546=)
c.4611C>G (p.Ala1537=)
c.*52C>G (n.*52C>G)
c.3045C>G (p.Ala1015=)
n.5029C>G
n.4526+13940C>G
c.4602C>G (p.Ala1534=)
n.5045C>G
n.4791C>G
n.4542+13940C>G
2g.227008108G>TCA431672123COL4A4c.321C>A (p.Ala107=)
c.4719C>A (p.Ala1573=)
c.4164C>A (p.Ala1388=)
c.4530C>A (p.Ala1510=)
c.4216+13940C>A (n.4216+13940C>A)
c.4638C>A (p.Ala1546=)
c.4611C>A (p.Ala1537=)
c.*52C>A (n.*52C>A)
c.3045C>A (p.Ala1015=)
n.5029C>A
n.4526+13940C>A
c.4602C>A (p.Ala1534=)
n.5045C>A
n.4791C>A
n.4542+13940C>A
 ClinVar gnomAD v4
2g.227008109G>ACA2144086COL4A4c.320C>T (p.Ala107Val)
c.4718C>T (p.Ala1573Val)
c.4163C>T (p.Ala1388Val)
c.4529C>T (p.Ala1510Val)
c.4216+13939C>T (n.4216+13939C>T)
c.4637C>T (p.Ala1546Val)
c.4610C>T (p.Ala1537Val)
c.*51C>T (n.*51C>T)
c.3044C>T (p.Ala1015Val)
n.5028C>T
n.4526+13939C>T
c.4601C>T (p.Ala1534Val)
n.5044C>T
n.4790C>T
n.4542+13939C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008109G>CCA351140626COL4A4c.320C>G (p.Ala107Gly)
c.4718C>G (p.Ala1573Gly)
c.4163C>G (p.Ala1388Gly)
c.4529C>G (p.Ala1510Gly)
c.4216+13939C>G (n.4216+13939C>G)
c.4637C>G (p.Ala1546Gly)
c.4610C>G (p.Ala1537Gly)
c.*51C>G (n.*51C>G)
c.3044C>G (p.Ala1015Gly)
n.5028C>G
n.4526+13939C>G
c.4601C>G (p.Ala1534Gly)
n.5044C>G
n.4790C>G
n.4542+13939C>G
2g.227008109G=CA1332723907COL4A4c.320C= (p.Ala107=)
c.4718C= (p.Ala1573=)
c.4163C= (p.Ala1388=)
c.4529C= (p.Ala1510=)
c.4216+13939C= (n.4216+13939C=)
c.4637C= (p.Ala1546=)
c.4610C= (p.Ala1537=)
c.*51C= (n.*51C=)
c.3044C= (p.Ala1015=)
n.5028C=
n.4526+13939C=
c.4601C= (p.Ala1534=)
n.5044C=
n.4790C=
n.4542+13939C=
2g.227008109G>TCA351140627COL4A4c.320C>A (p.Ala107Asp)
c.4718C>A (p.Ala1573Asp)
c.4163C>A (p.Ala1388Asp)
c.4529C>A (p.Ala1510Asp)
c.4216+13939C>A (n.4216+13939C>A)
c.4637C>A (p.Ala1546Asp)
c.4610C>A (p.Ala1537Asp)
c.*51C>A (n.*51C>A)
c.3044C>A (p.Ala1015Asp)
n.5028C>A
n.4526+13939C>A
c.4601C>A (p.Ala1534Asp)
n.5044C>A
n.4790C>A
n.4542+13939C>A
2g.227008110C>ACA351140628COL4A4c.319G>T (p.Ala107Ser)
c.4717G>T (p.Ala1573Ser)
c.4162G>T (p.Ala1388Ser)
c.4528G>T (p.Ala1510Ser)
c.4216+13938G>T (n.4216+13938G>T)
c.4636G>T (p.Ala1546Ser)
c.4609G>T (p.Ala1537Ser)
c.*50G>T (n.*50G>T)
c.3043G>T (p.Ala1015Ser)
n.5027G>T
n.4526+13938G>T
c.4600G>T (p.Ala1534Ser)
n.5043G>T
n.4789G>T
n.4542+13938G>T
2g.227008110C>GCA351140629COL4A4c.319G>C (p.Ala107Pro)
c.4717G>C (p.Ala1573Pro)
c.4162G>C (p.Ala1388Pro)
c.4528G>C (p.Ala1510Pro)
c.4216+13938G>C (n.4216+13938G>C)
c.4636G>C (p.Ala1546Pro)
c.4609G>C (p.Ala1537Pro)
c.*50G>C (n.*50G>C)
c.3043G>C (p.Ala1015Pro)
n.5027G>C
n.4526+13938G>C
c.4600G>C (p.Ala1534Pro)
n.5043G>C
n.4789G>C
n.4542+13938G>C
 gnomAD v4
2g.227008110C>TCA351140630COL4A4c.319G>A (p.Ala107Thr)
c.4717G>A (p.Ala1573Thr)
c.4162G>A (p.Ala1388Thr)
c.4528G>A (p.Ala1510Thr)
c.4216+13938G>A (n.4216+13938G>A)
c.4636G>A (p.Ala1546Thr)
c.4609G>A (p.Ala1537Thr)
c.*50G>A (n.*50G>A)
c.3043G>A (p.Ala1015Thr)
n.5027G>A
n.4526+13938G>A
c.4600G>A (p.Ala1534Thr)
n.5043G>A
n.4789G>A
n.4542+13938G>A
 gnomAD v4
2g.227008111delCA2499215692COL4A4c.319del (p.Ala107ProfsTer30)
c.4717del (p.Ala1573ProfsTer30)
c.4162del (p.Ala1388ProfsTer30)
c.4528del (p.Ala1510ProfsTer30)
c.4216+13938del (n.4216+13938del)
c.4636del (p.Ala1546ProfsTer30)
c.4609del (p.Ala1537ProfsTer30)
c.*50del (n.*50del)
c.3043del (p.Ala1015ProfsTer30)
n.5027del
n.4526+13938del
c.4600del (p.Ala1534ProfsTer30)
n.5043del
n.4789del
n.4542+13938del
 ClinVar dbSNP gnomAD v4
2g.227008111C>ACA431672127COL4A4c.318G>T (p.Pro106=)
c.4716G>T (p.Pro1572=)
c.4161G>T (p.Pro1387=)
c.4527G>T (p.Pro1509=)
c.4216+13937G>T (n.4216+13937G>T)
c.4635G>T (p.Pro1545=)
c.4608G>T (p.Pro1536=)
c.*49G>T (n.*49G>T)
c.3042G>T (p.Pro1014=)
n.5026G>T
n.4526+13937G>T
c.4599G>T (p.Pro1533=)
n.5042G>T
n.4788G>T
n.4542+13937G>T
2g.227008111C=CA1332723908COL4A4c.318G= (p.Pro106=)
c.4716G= (p.Pro1572=)
c.4161G= (p.Pro1387=)
c.4527G= (p.Pro1509=)
c.4216+13937G= (n.4216+13937G=)
c.4635G= (p.Pro1545=)
c.4608G= (p.Pro1536=)
c.*49G= (n.*49G=)
c.3042G= (p.Pro1014=)
n.5026G=
n.4526+13937G=
c.4599G= (p.Pro1533=)
n.5042G=
n.4788G=
n.4542+13937G=
2g.227008111C>GCA431672128COL4A4c.318G>C (p.Pro106=)
c.4716G>C (p.Pro1572=)
c.4161G>C (p.Pro1387=)
c.4527G>C (p.Pro1509=)
c.4216+13937G>C (n.4216+13937G>C)
c.4635G>C (p.Pro1545=)
c.4608G>C (p.Pro1536=)
c.*49G>C (n.*49G>C)
c.3042G>C (p.Pro1014=)
n.5026G>C
n.4526+13937G>C
c.4599G>C (p.Pro1533=)
n.5042G>C
n.4788G>C
n.4542+13937G>C
2g.227008111C>TCA2144087COL4A4c.318G>A (p.Pro106=)
c.4716G>A (p.Pro1572=)
c.4161G>A (p.Pro1387=)
c.4527G>A (p.Pro1509=)
c.4216+13937G>A (n.4216+13937G>A)
c.4635G>A (p.Pro1545=)
c.4608G>A (p.Pro1536=)
c.*49G>A (n.*49G>A)
c.3042G>A (p.Pro1014=)
n.5026G>A
n.4526+13937G>A
c.4599G>A (p.Pro1533=)
n.5042G>A
n.4788G>A
n.4542+13937G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008112G>ACA257925COL4A4c.317C>T (p.Pro106Leu)
c.4715C>T (p.Pro1572Leu)
c.4160C>T (p.Pro1387Leu)
c.4526C>T (p.Pro1509Leu)
c.4216+13936C>T (n.4216+13936C>T)
c.4634C>T (p.Pro1545Leu)
c.4607C>T (p.Pro1536Leu)
c.*48C>T (n.*48C>T)
c.3041C>T (p.Pro1014Leu)
n.5025C>T
n.4526+13936C>T
c.4598C>T (p.Pro1533Leu)
n.5041C>T
n.4787C>T
n.4542+13936C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008112G>CCA351140631COL4A4c.317C>G (p.Pro106Arg)
c.4715C>G (p.Pro1572Arg)
c.4160C>G (p.Pro1387Arg)
c.4526C>G (p.Pro1509Arg)
c.4216+13936C>G (n.4216+13936C>G)
c.4634C>G (p.Pro1545Arg)
c.4607C>G (p.Pro1536Arg)
c.*48C>G (n.*48C>G)
c.3041C>G (p.Pro1014Arg)
n.5025C>G
n.4526+13936C>G
c.4598C>G (p.Pro1533Arg)
n.5041C>G
n.4787C>G
n.4542+13936C>G
2g.227008112G=CA1332723909COL4A4c.317C= (p.Pro106=)
c.4715C= (p.Pro1572=)
c.4160C= (p.Pro1387=)
c.4526C= (p.Pro1509=)
c.4216+13936C= (n.4216+13936C=)
c.4634C= (p.Pro1545=)
c.4607C= (p.Pro1536=)
c.*48C= (n.*48C=)
c.3041C= (p.Pro1014=)
n.5025C=
n.4526+13936C=
c.4598C= (p.Pro1533=)
n.5041C=
n.4787C=
n.4542+13936C=
2g.227008112G>TCA351140632COL4A4c.317C>A (p.Pro106Gln)
c.4715C>A (p.Pro1572Gln)
c.4160C>A (p.Pro1387Gln)
c.4526C>A (p.Pro1509Gln)
c.4216+13936C>A (n.4216+13936C>A)
c.4634C>A (p.Pro1545Gln)
c.4607C>A (p.Pro1536Gln)
c.*48C>A (n.*48C>A)
c.3041C>A (p.Pro1014Gln)
n.5025C>A
n.4526+13936C>A
c.4598C>A (p.Pro1533Gln)
n.5041C>A
n.4787C>A
n.4542+13936C>A
2g.227008113G>ACA67238296COL4A4c.316C>T (p.Pro106Ser)
c.4714C>T (p.Pro1572Ser)
c.4159C>T (p.Pro1387Ser)
c.4525C>T (p.Pro1509Ser)
c.4216+13935C>T (n.4216+13935C>T)
c.4633C>T (p.Pro1545Ser)
c.4606C>T (p.Pro1536Ser)
c.*47C>T (n.*47C>T)
c.3040C>T (p.Pro1014Ser)
n.5024C>T
n.4526+13935C>T
c.4597C>T (p.Pro1533Ser)
n.5040C>T
n.4786C>T
n.4542+13935C>T
 dbSNP gnomAD v4
2g.227008113G>CCA351140633COL4A4c.316C>G (p.Pro106Ala)
c.4714C>G (p.Pro1572Ala)
c.4159C>G (p.Pro1387Ala)
c.4525C>G (p.Pro1509Ala)
c.4216+13935C>G (n.4216+13935C>G)
c.4633C>G (p.Pro1545Ala)
c.4606C>G (p.Pro1536Ala)
c.*47C>G (n.*47C>G)
c.3040C>G (p.Pro1014Ala)
n.5024C>G
n.4526+13935C>G
c.4597C>G (p.Pro1533Ala)
n.5040C>G
n.4786C>G
n.4542+13935C>G
2g.227008113G=CA1332723910COL4A4c.316C= (p.Pro106=)
c.4714C= (p.Pro1572=)
c.4159C= (p.Pro1387=)
c.4525C= (p.Pro1509=)
c.4216+13935C= (n.4216+13935C=)
c.4633C= (p.Pro1545=)
c.4606C= (p.Pro1536=)
c.*47C= (n.*47C=)
c.3040C= (p.Pro1014=)
n.5024C=
n.4526+13935C=
c.4597C= (p.Pro1533=)
n.5040C=
n.4786C=
n.4542+13935C=
2g.227008113G>TCA351140634COL4A4c.316C>A (p.Pro106Thr)
c.4714C>A (p.Pro1572Thr)
c.4159C>A (p.Pro1387Thr)
c.4525C>A (p.Pro1509Thr)
c.4216+13935C>A (n.4216+13935C>A)
c.4633C>A (p.Pro1545Thr)
c.4606C>A (p.Pro1536Thr)
c.*47C>A (n.*47C>A)
c.3040C>A (p.Pro1014Thr)
n.5024C>A
n.4526+13935C>A
c.4597C>A (p.Pro1533Thr)
n.5040C>A
n.4786C>A
n.4542+13935C>A
2g.227008113_227008133delinsGGGCCTCGCATACCGCACAGCCA1332723911COL4A4c.296_316delinsGCTGTGCGGTATGCGAGGCCC (p.Arg99=)
c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1565=)
c.4139_4159delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1380=)
c.4505_4525delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1502=)
c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC (n.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC)
c.4613_4633delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1538=)
c.4586_4606delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1529=)
c.*27_*47delinsGCTGTGCGGTATGCGAGGCCC (n.*27_*47delinsGCTGTGCGGTATGCGAGGCCC)
c.3020_3040delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1007=)
n.5004_5024delinsGCTGTGCGGTATGCGAGGCCC
n.4526+13915_4526+13935delinsGCTGTGCGGTATGCGAGGCCC
c.4577_4597delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1526=)
n.5020_5040delinsGCTGTGCGGTATGCGAGGCCC
n.4766_4786delinsGCTGTGCGGTATGCGAGGCCC
n.4542+13915_4542+13935delinsGCTGTGCGGTATGCGAGGCCC
2g.227008114G>ACA431672131COL4A4c.315C>T (p.Ala105=)
c.4713C>T (p.Ala1571=)
c.4158C>T (p.Ala1386=)
c.4524C>T (p.Ala1508=)
c.4216+13934C>T (n.4216+13934C>T)
c.4632C>T (p.Ala1544=)
c.4605C>T (p.Ala1535=)
c.*46C>T (n.*46C>T)
c.3039C>T (p.Ala1013=)
n.5023C>T
n.4526+13934C>T
c.4596C>T (p.Ala1532=)
n.5039C>T
n.4785C>T
n.4542+13934C>T
 ClinVar dbSNP gnomAD v4
2g.227008114G>CCA431672132COL4A4c.315C>G (p.Ala105=)
c.4713C>G (p.Ala1571=)
c.4158C>G (p.Ala1386=)
c.4524C>G (p.Ala1508=)
c.4216+13934C>G (n.4216+13934C>G)
c.4632C>G (p.Ala1544=)
c.4605C>G (p.Ala1535=)
c.*46C>G (n.*46C>G)
c.3039C>G (p.Ala1013=)
n.5023C>G
n.4526+13934C>G
c.4596C>G (p.Ala1532=)
n.5039C>G
n.4785C>G
n.4542+13934C>G
 ClinVar dbSNP gnomAD v4
2g.227008114G>TCA431672134COL4A4c.315C>A (p.Ala105=)
c.4713C>A (p.Ala1571=)
c.4158C>A (p.Ala1386=)
c.4524C>A (p.Ala1508=)
c.4216+13934C>A (n.4216+13934C>A)
c.4632C>A (p.Ala1544=)
c.4605C>A (p.Ala1535=)
c.*46C>A (n.*46C>A)
c.3039C>A (p.Ala1013=)
n.5023C>A
n.4526+13934C>A
c.4596C>A (p.Ala1532=)
n.5039C>A
n.4785C>A
n.4542+13934C>A
2g.227008117_227008136delCA658796189COL4A4c.296_315del (p.Arg99ProfsTer?)
c.4694_4713del (p.Arg1565ProfsTer?)
c.4139_4158del (p.Arg1380ProfsTer?)
c.4505_4524del (p.Arg1502ProfsTer?)
c.4216+13915_4216+13934del (n.4216+13915_4216+13934del)
c.4613_4632del (p.Arg1538ProfsTer?)
c.4586_4605del (p.Arg1529ProfsTer?)
c.*27_*46del (n.*27_*46del)
c.3020_3039del (p.Arg1007ProfsTer?)
n.5004_5023del
n.4526+13915_4526+13934del
c.4577_4596del (p.Arg1526ProfsTer?)
n.5020_5039del
n.4766_4785del
n.4542+13915_4542+13934del
 ClinVar dbSNP
2g.227008115G>ACA351140637COL4A4c.314C>T (p.Ala105Val)
c.4712C>T (p.Ala1571Val)
c.4157C>T (p.Ala1386Val)
c.4523C>T (p.Ala1508Val)
c.4216+13933C>T (n.4216+13933C>T)
c.4631C>T (p.Ala1544Val)
c.4604C>T (p.Ala1535Val)
c.*45C>T (n.*45C>T)
c.3038C>T (p.Ala1013Val)
n.5022C>T
n.4526+13933C>T
c.4595C>T (p.Ala1532Val)
n.5038C>T
n.4784C>T
n.4542+13933C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008115G>CCA351140635COL4A4c.314C>G (p.Ala105Gly)
c.4712C>G (p.Ala1571Gly)
c.4157C>G (p.Ala1386Gly)
c.4523C>G (p.Ala1508Gly)
c.4216+13933C>G (n.4216+13933C>G)
c.4631C>G (p.Ala1544Gly)
c.4604C>G (p.Ala1535Gly)
c.*45C>G (n.*45C>G)
c.3038C>G (p.Ala1013Gly)
n.5022C>G
n.4526+13933C>G
c.4595C>G (p.Ala1532Gly)
n.5038C>G
n.4784C>G
n.4542+13933C>G
2g.227008115G=CA1332723912COL4A4c.314C= (p.Ala105=)
c.4712C= (p.Ala1571=)
c.4157C= (p.Ala1386=)
c.4523C= (p.Ala1508=)
c.4216+13933C= (n.4216+13933C=)
c.4631C= (p.Ala1544=)
c.4604C= (p.Ala1535=)
c.*45C= (n.*45C=)
c.3038C= (p.Ala1013=)
n.5022C=
n.4526+13933C=
c.4595C= (p.Ala1532=)
n.5038C=
n.4784C=
n.4542+13933C=
2g.227008115G>TCA351140636COL4A4c.314C>A (p.Ala105Asp)
c.4712C>A (p.Ala1571Asp)
c.4157C>A (p.Ala1386Asp)
c.4523C>A (p.Ala1508Asp)
c.4216+13933C>A (n.4216+13933C>A)
c.4631C>A (p.Ala1544Asp)
c.4604C>A (p.Ala1535Asp)
c.*45C>A (n.*45C>A)
c.3038C>A (p.Ala1013Asp)
n.5022C>A
n.4526+13933C>A
c.4595C>A (p.Ala1532Asp)
n.5038C>A
n.4784C>A
n.4542+13933C>A
 dbSNP
2g.227008116C>ACA351140638COL4A4c.313G>T (p.Ala105Ser)
c.4711G>T (p.Ala1571Ser)
c.4156G>T (p.Ala1386Ser)
c.4522G>T (p.Ala1508Ser)
c.4216+13932G>T (n.4216+13932G>T)
c.4630G>T (p.Ala1544Ser)
c.4603G>T (p.Ala1535Ser)
c.*44G>T (n.*44G>T)
c.3037G>T (p.Ala1013Ser)
n.5021G>T
n.4526+13932G>T
c.4594G>T (p.Ala1532Ser)
n.5037G>T
n.4783G>T
n.4542+13932G>T
2g.227008116C>GCA351140639COL4A4c.313G>C (p.Ala105Pro)
c.4711G>C (p.Ala1571Pro)
c.4156G>C (p.Ala1386Pro)
c.4522G>C (p.Ala1508Pro)
c.4216+13932G>C (n.4216+13932G>C)
c.4630G>C (p.Ala1544Pro)
c.4603G>C (p.Ala1535Pro)
c.*44G>C (n.*44G>C)
c.3037G>C (p.Ala1013Pro)
n.5021G>C
n.4526+13932G>C
c.4594G>C (p.Ala1532Pro)
n.5037G>C
n.4783G>C
n.4542+13932G>C
2g.227008116C>TCA351140640COL4A4c.313G>A (p.Ala105Thr)
c.4711G>A (p.Ala1571Thr)
c.4156G>A (p.Ala1386Thr)
c.4522G>A (p.Ala1508Thr)
c.4216+13932G>A (n.4216+13932G>A)
c.4630G>A (p.Ala1544Thr)
c.4603G>A (p.Ala1535Thr)
c.*44G>A (n.*44G>A)
c.3037G>A (p.Ala1013Thr)
n.5021G>A
n.4526+13932G>A
c.4594G>A (p.Ala1532Thr)
n.5037G>A
n.4783G>A
n.4542+13932G>A
2g.227008117C>ACA351140641COL4A4c.312G>T (p.Glu104Asp)
c.4710G>T (p.Glu1570Asp)
c.4155G>T (p.Glu1385Asp)
c.4521G>T (p.Glu1507Asp)
c.4216+13931G>T (n.4216+13931G>T)
c.4629G>T (p.Glu1543Asp)
c.4602G>T (p.Glu1534Asp)
c.*43G>T (n.*43G>T)
c.3036G>T (p.Glu1012Asp)
n.5020G>T
n.4526+13931G>T
c.4593G>T (p.Glu1531Asp)
n.5036G>T
n.4782G>T
n.4542+13931G>T
 dbSNP gnomAD v3 gnomAD v4
2g.227008117C=CA1332723913COL4A4c.312G= (p.Glu104=)
c.4710G= (p.Glu1570=)
c.4155G= (p.Glu1385=)
c.4521G= (p.Glu1507=)
c.4216+13931G= (n.4216+13931G=)
c.4629G= (p.Glu1543=)
c.4602G= (p.Glu1534=)
c.*43G= (n.*43G=)
c.3036G= (p.Glu1012=)
n.5020G=
n.4526+13931G=
c.4593G= (p.Glu1531=)
n.5036G=
n.4782G=
n.4542+13931G=
2g.227008117C>GCA351140642COL4A4c.312G>C (p.Glu104Asp)
c.4710G>C (p.Glu1570Asp)
c.4155G>C (p.Glu1385Asp)
c.4521G>C (p.Glu1507Asp)
c.4216+13931G>C (n.4216+13931G>C)
c.4629G>C (p.Glu1543Asp)
c.4602G>C (p.Glu1534Asp)
c.*43G>C (n.*43G>C)
c.3036G>C (p.Glu1012Asp)
n.5020G>C
n.4526+13931G>C
c.4593G>C (p.Glu1531Asp)
n.5036G>C
n.4782G>C
n.4542+13931G>C
2g.227008117C>TCA431672136COL4A4c.312G>A (p.Glu104=)
c.4710G>A (p.Glu1570=)
c.4155G>A (p.Glu1385=)
c.4521G>A (p.Glu1507=)
c.4216+13931G>A (n.4216+13931G>A)
c.4629G>A (p.Glu1543=)
c.4602G>A (p.Glu1534=)
c.*43G>A (n.*43G>A)
c.3036G>A (p.Glu1012=)
n.5020G>A
n.4526+13931G>A
c.4593G>A (p.Glu1531=)
n.5036G>A
n.4782G>A
n.4542+13931G>A
 gnomAD v4
2g.227008118T>ACA351140643COL4A4c.311A>T (p.Glu104Val)
c.4709A>T (p.Glu1570Val)
c.4154A>T (p.Glu1385Val)
c.4520A>T (p.Glu1507Val)
c.4216+13930A>T (n.4216+13930A>T)
c.4628A>T (p.Glu1543Val)
c.4601A>T (p.Glu1534Val)
c.*42A>T (n.*42A>T)
c.3035A>T (p.Glu1012Val)
n.5019A>T
n.4526+13930A>T
c.4592A>T (p.Glu1531Val)
n.5035A>T
n.4781A>T
n.4542+13930A>T
2g.227008118T>CCA351140644COL4A4c.311A>G (p.Glu104Gly)
c.4709A>G (p.Glu1570Gly)
c.4154A>G (p.Glu1385Gly)
c.4520A>G (p.Glu1507Gly)
c.4216+13930A>G (n.4216+13930A>G)
c.4628A>G (p.Glu1543Gly)
c.4601A>G (p.Glu1534Gly)
c.*42A>G (n.*42A>G)
c.3035A>G (p.Glu1012Gly)
n.5019A>G
n.4526+13930A>G
c.4592A>G (p.Glu1531Gly)
n.5035A>G
n.4781A>G
n.4542+13930A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008118T>GCA351140645COL4A4c.311A>C (p.Glu104Ala)
c.4709A>C (p.Glu1570Ala)
c.4154A>C (p.Glu1385Ala)
c.4520A>C (p.Glu1507Ala)
c.4216+13930A>C (n.4216+13930A>C)
c.4628A>C (p.Glu1543Ala)
c.4601A>C (p.Glu1534Ala)
c.*42A>C (n.*42A>C)
c.3035A>C (p.Glu1012Ala)
n.5019A>C
n.4526+13930A>C
c.4592A>C (p.Glu1531Ala)
n.5035A>C
n.4781A>C
n.4542+13930A>C
2g.227008118T=CA1332723914COL4A4c.311A= (p.Glu104=)
c.4709A= (p.Glu1570=)
c.4154A= (p.Glu1385=)
c.4520A= (p.Glu1507=)
c.4216+13930A= (n.4216+13930A=)
c.4628A= (p.Glu1543=)
c.4601A= (p.Glu1534=)
c.*42A= (n.*42A=)
c.3035A= (p.Glu1012=)
n.5019A=
n.4526+13930A=
c.4592A= (p.Glu1531=)
n.5035A=
n.4781A=
n.4542+13930A=
2g.227008119C>ACA351140646COL4A4c.310G>T (p.Glu104Ter)
c.4708G>T (p.Glu1570Ter)
c.4153G>T (p.Glu1385Ter)
c.4519G>T (p.Glu1507Ter)
c.4216+13929G>T (n.4216+13929G>T)
c.4627G>T (p.Glu1543Ter)
c.4600G>T (p.Glu1534Ter)
c.*41G>T (n.*41G>T)
c.3034G>T (p.Glu1012Ter)
n.5018G>T
n.4526+13929G>T
c.4591G>T (p.Glu1531Ter)
n.5034G>T
n.4780G>T
n.4542+13929G>T
2g.227008119C=CA1332723915COL4A4c.310G= (p.Glu104=)
c.4708G= (p.Glu1570=)
c.4153G= (p.Glu1385=)
c.4519G= (p.Glu1507=)
c.4216+13929G= (n.4216+13929G=)
c.4627G= (p.Glu1543=)
c.4600G= (p.Glu1534=)
c.*41G= (n.*41G=)
c.3034G= (p.Glu1012=)
n.5018G=
n.4526+13929G=
c.4591G= (p.Glu1531=)
n.5034G=
n.4780G=
n.4542+13929G=
2g.227008119C>GCA67238297COL4A4c.310G>C (p.Glu104Gln)
c.4708G>C (p.Glu1570Gln)
c.4153G>C (p.Glu1385Gln)
c.4519G>C (p.Glu1507Gln)
c.4216+13929G>C (n.4216+13929G>C)
c.4627G>C (p.Glu1543Gln)
c.4600G>C (p.Glu1534Gln)
c.*41G>C (n.*41G>C)
c.3034G>C (p.Glu1012Gln)
n.5018G>C
n.4526+13929G>C
c.4591G>C (p.Glu1531Gln)
n.5034G>C
n.4780G>C
n.4542+13929G>C
 dbSNP gnomAD v3 gnomAD v4
2g.227008119C>TCA2144088COL4A4c.310G>A (p.Glu104Lys)
c.4708G>A (p.Glu1570Lys)
c.4153G>A (p.Glu1385Lys)
c.4519G>A (p.Glu1507Lys)
c.4216+13929G>A (n.4216+13929G>A)
c.4627G>A (p.Glu1543Lys)
c.4600G>A (p.Glu1534Lys)
c.*41G>A (n.*41G>A)
c.3034G>A (p.Glu1012Lys)
n.5018G>A
n.4526+13929G>A
c.4591G>A (p.Glu1531Lys)
n.5034G>A
n.4780G>A
n.4542+13929G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008123_227008129dupCA2577263044COL4A4c.304_310dup (p.Glu104GlyfsTer?)
c.4702_4708dup (p.Glu1570GlyfsTer?)
c.4147_4153dup (p.Glu1385GlyfsTer?)
c.4513_4519dup (p.Glu1507GlyfsTer?)
c.4216+13923_4216+13929dup (n.4216+13923_4216+13929dup)
c.4621_4627dup (p.Glu1543GlyfsTer?)
c.4594_4600dup (p.Glu1534GlyfsTer?)
c.*35_*41dup (n.*35_*41dup)
c.3028_3034dup (p.Glu1012GlyfsTer?)
n.5012_5018dup
n.4526+13923_4526+13929dup
c.4585_4591dup (p.Glu1531GlyfsTer?)
n.5028_5034dup
n.4774_4780dup
n.4542+13923_4542+13929dup

Number of alleles fetched