Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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
2g.227008122A>CCA351140651COL4A4c.307T>G (p.Cys103Gly)
c.4705T>G (p.Cys1569Gly)
c.4150T>G (p.Cys1384Gly)
c.4516T>G (p.Cys1506Gly)
c.4216+13926T>G (n.4216+13926T>G)
c.4624T>G (p.Cys1542Gly)
c.4597T>G (p.Cys1533Gly)
c.*38T>G (n.*38T>G)
c.3031T>G (p.Cys1011Gly)
n.5015T>G
n.4526+13926T>G
c.4588T>G (p.Cys1530Gly)
n.5031T>G
n.4777T>G
n.4542+13926T>G
2g.227008122A>GCA351140653COL4A4c.307T>C (p.Cys103Arg)
c.4705T>C (p.Cys1569Arg)
c.4150T>C (p.Cys1384Arg)
c.4516T>C (p.Cys1506Arg)
c.4216+13926T>C (n.4216+13926T>C)
c.4624T>C (p.Cys1542Arg)
c.4597T>C (p.Cys1533Arg)
c.*38T>C (n.*38T>C)
c.3031T>C (p.Cys1011Arg)
n.5015T>C
n.4526+13926T>C
c.4588T>C (p.Cys1530Arg)
n.5031T>C
n.4777T>C
n.4542+13926T>C
2g.227008122A>TCA351140652COL4A4c.307T>A (p.Cys103Ser)
c.4705T>A (p.Cys1569Ser)
c.4150T>A (p.Cys1384Ser)
c.4516T>A (p.Cys1506Ser)
c.4216+13926T>A (n.4216+13926T>A)
c.4624T>A (p.Cys1542Ser)
c.4597T>A (p.Cys1533Ser)
c.*38T>A (n.*38T>A)
c.3031T>A (p.Cys1011Ser)
n.5015T>A
n.4526+13926T>A
c.4588T>A (p.Cys1530Ser)
n.5031T>A
n.4777T>A
n.4542+13926T>A
2g.227008123T>ACA431672142COL4A4c.306A>T (p.Val102=)
c.4704A>T (p.Val1568=)
c.4149A>T (p.Val1383=)
c.4515A>T (p.Val1505=)
c.4216+13925A>T (n.4216+13925A>T)
c.4623A>T (p.Val1541=)
c.4596A>T (p.Val1532=)
c.*37A>T (n.*37A>T)
c.3030A>T (p.Val1010=)
n.5014A>T
n.4526+13925A>T
c.4587A>T (p.Val1529=)
n.5030A>T
n.4776A>T
n.4542+13925A>T
2g.227008123T>CCA431672143COL4A4c.306A>G (p.Val102=)
c.4704A>G (p.Val1568=)
c.4149A>G (p.Val1383=)
c.4515A>G (p.Val1505=)
c.4216+13925A>G (n.4216+13925A>G)
c.4623A>G (p.Val1541=)
c.4596A>G (p.Val1532=)
c.*37A>G (n.*37A>G)
c.3030A>G (p.Val1010=)
n.5014A>G
n.4526+13925A>G
c.4587A>G (p.Val1529=)
n.5030A>G
n.4776A>G
n.4542+13925A>G
 gnomAD v4
2g.227008123T>GCA431672145COL4A4c.306A>C (p.Val102=)
c.4704A>C (p.Val1568=)
c.4149A>C (p.Val1383=)
c.4515A>C (p.Val1505=)
c.4216+13925A>C (n.4216+13925A>C)
c.4623A>C (p.Val1541=)
c.4596A>C (p.Val1532=)
c.*37A>C (n.*37A>C)
c.3030A>C (p.Val1010=)
n.5014A>C
n.4526+13925A>C
c.4587A>C (p.Val1529=)
n.5030A>C
n.4776A>C
n.4542+13925A>C
2g.227008124A>CCA351140654COL4A4c.305T>G (p.Val102Gly)
c.4703T>G (p.Val1568Gly)
c.4148T>G (p.Val1383Gly)
c.4514T>G (p.Val1505Gly)
c.4216+13924T>G (n.4216+13924T>G)
c.4622T>G (p.Val1541Gly)
c.4595T>G (p.Val1532Gly)
c.*36T>G (n.*36T>G)
c.3029T>G (p.Val1010Gly)
n.5013T>G
n.4526+13924T>G
c.4586T>G (p.Val1529Gly)
n.5029T>G
n.4775T>G
n.4542+13924T>G
2g.227008124A>GCA351140655COL4A4c.305T>C (p.Val102Ala)
c.4703T>C (p.Val1568Ala)
c.4148T>C (p.Val1383Ala)
c.4514T>C (p.Val1505Ala)
c.4216+13924T>C (n.4216+13924T>C)
c.4622T>C (p.Val1541Ala)
c.4595T>C (p.Val1532Ala)
c.*36T>C (n.*36T>C)
c.3029T>C (p.Val1010Ala)
n.5013T>C
n.4526+13924T>C
c.4586T>C (p.Val1529Ala)
n.5029T>C
n.4775T>C
n.4542+13924T>C
2g.227008124A>TCA351140656COL4A4c.305T>A (p.Val102Glu)
c.4703T>A (p.Val1568Glu)
c.4148T>A (p.Val1383Glu)
c.4514T>A (p.Val1505Glu)
c.4216+13924T>A (n.4216+13924T>A)
c.4622T>A (p.Val1541Glu)
c.4595T>A (p.Val1532Glu)
c.*36T>A (n.*36T>A)
c.3029T>A (p.Val1010Glu)
n.5013T>A
n.4526+13924T>A
c.4586T>A (p.Val1529Glu)
n.5029T>A
n.4775T>A
n.4542+13924T>A
2g.227008125C>ACA351140657COL4A4c.304G>T (p.Val102Leu)
c.4702G>T (p.Val1568Leu)
c.4147G>T (p.Val1383Leu)
c.4513G>T (p.Val1505Leu)
c.4216+13923G>T (n.4216+13923G>T)
c.4621G>T (p.Val1541Leu)
c.4594G>T (p.Val1532Leu)
c.*35G>T (n.*35G>T)
c.3028G>T (p.Val1010Leu)
n.5012G>T
n.4526+13923G>T
c.4585G>T (p.Val1529Leu)
n.5028G>T
n.4774G>T
n.4542+13923G>T
2g.227008125C=CA1332723918COL4A4c.304G= (p.Val102=)
c.4702G= (p.Val1568=)
c.4147G= (p.Val1383=)
c.4513G= (p.Val1505=)
c.4216+13923G= (n.4216+13923G=)
c.4621G= (p.Val1541=)
c.4594G= (p.Val1532=)
c.*35G= (n.*35G=)
c.3028G= (p.Val1010=)
n.5012G=
n.4526+13923G=
c.4585G= (p.Val1529=)
n.5028G=
n.4774G=
n.4542+13923G=
2g.227008125C>GCA351140658COL4A4c.304G>C (p.Val102Leu)
c.4702G>C (p.Val1568Leu)
c.4147G>C (p.Val1383Leu)
c.4513G>C (p.Val1505Leu)
c.4216+13923G>C (n.4216+13923G>C)
c.4621G>C (p.Val1541Leu)
c.4594G>C (p.Val1532Leu)
c.*35G>C (n.*35G>C)
c.3028G>C (p.Val1010Leu)
n.5012G>C
n.4526+13923G>C
c.4585G>C (p.Val1529Leu)
n.5028G>C
n.4774G>C
n.4542+13923G>C
2g.227008125C>TCA67238298COL4A4c.304G>A (p.Val102Ile)
c.4702G>A (p.Val1568Ile)
c.4147G>A (p.Val1383Ile)
c.4513G>A (p.Val1505Ile)
c.4216+13923G>A (n.4216+13923G>A)
c.4621G>A (p.Val1541Ile)
c.4594G>A (p.Val1532Ile)
c.*35G>A (n.*35G>A)
c.3028G>A (p.Val1010Ile)
n.5012G>A
n.4526+13923G>A
c.4585G>A (p.Val1529Ile)
n.5028G>A
n.4774G>A
n.4542+13923G>A
 dbSNP gnomAD v4 COSMIC
2g.227008126C>ACA431672146COL4A4c.303G>T (p.Ala101=)
c.4701G>T (p.Ala1567=)
c.4146G>T (p.Ala1382=)
c.4512G>T (p.Ala1504=)
c.4216+13922G>T (n.4216+13922G>T)
c.4620G>T (p.Ala1540=)
c.4593G>T (p.Ala1531=)
c.*34G>T (n.*34G>T)
c.3027G>T (p.Ala1009=)
n.5011G>T
n.4526+13922G>T
c.4584G>T (p.Ala1528=)
n.5027G>T
n.4773G>T
n.4542+13922G>T
 ClinVar dbSNP gnomAD v4
2g.227008126C=CA1332723919COL4A4c.303G= (p.Ala101=)
c.4701G= (p.Ala1567=)
c.4146G= (p.Ala1382=)
c.4512G= (p.Ala1504=)
c.4216+13922G= (n.4216+13922G=)
c.4620G= (p.Ala1540=)
c.4593G= (p.Ala1531=)
c.*34G= (n.*34G=)
c.3027G= (p.Ala1009=)
n.5011G=
n.4526+13922G=
c.4584G= (p.Ala1528=)
n.5027G=
n.4773G=
n.4542+13922G=
2g.227008126C>GCA431672147COL4A4c.303G>C (p.Ala101=)
c.4701G>C (p.Ala1567=)
c.4146G>C (p.Ala1382=)
c.4512G>C (p.Ala1504=)
c.4216+13922G>C (n.4216+13922G>C)
c.4620G>C (p.Ala1540=)
c.4593G>C (p.Ala1531=)
c.*34G>C (n.*34G>C)
c.3027G>C (p.Ala1009=)
n.5011G>C
n.4526+13922G>C
c.4584G>C (p.Ala1528=)
n.5027G>C
n.4773G>C
n.4542+13922G>C
2g.227008126C>TCA2144091COL4A4c.303G>A (p.Ala101=)
c.4701G>A (p.Ala1567=)
c.4146G>A (p.Ala1382=)
c.4512G>A (p.Ala1504=)
c.4216+13922G>A (n.4216+13922G>A)
c.4620G>A (p.Ala1540=)
c.4593G>A (p.Ala1531=)
c.*34G>A (n.*34G>A)
c.3027G>A (p.Ala1009=)
n.5011G>A
n.4526+13922G>A
c.4584G>A (p.Ala1528=)
n.5027G>A
n.4773G>A
n.4542+13922G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008127G>ACA2144092COL4A4c.302C>T (p.Ala101Val)
c.4700C>T (p.Ala1567Val)
c.4145C>T (p.Ala1382Val)
c.4511C>T (p.Ala1504Val)
c.4216+13921C>T (n.4216+13921C>T)
c.4619C>T (p.Ala1540Val)
c.4592C>T (p.Ala1531Val)
c.*33C>T (n.*33C>T)
c.3026C>T (p.Ala1009Val)
n.5010C>T
n.4526+13921C>T
c.4583C>T (p.Ala1528Val)
n.5026C>T
n.4772C>T
n.4542+13921C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008127G>CCA351140659COL4A4c.302C>G (p.Ala101Gly)
c.4700C>G (p.Ala1567Gly)
c.4145C>G (p.Ala1382Gly)
c.4511C>G (p.Ala1504Gly)
c.4216+13921C>G (n.4216+13921C>G)
c.4619C>G (p.Ala1540Gly)
c.4592C>G (p.Ala1531Gly)
c.*33C>G (n.*33C>G)
c.3026C>G (p.Ala1009Gly)
n.5010C>G
n.4526+13921C>G
c.4583C>G (p.Ala1528Gly)
n.5026C>G
n.4772C>G
n.4542+13921C>G
2g.227008127G=CA1332723920COL4A4c.302C= (p.Ala101=)
c.4700C= (p.Ala1567=)
c.4145C= (p.Ala1382=)
c.4511C= (p.Ala1504=)
c.4216+13921C= (n.4216+13921C=)
c.4619C= (p.Ala1540=)
c.4592C= (p.Ala1531=)
c.*33C= (n.*33C=)
c.3026C= (p.Ala1009=)
n.5010C=
n.4526+13921C=
c.4583C= (p.Ala1528=)
n.5026C=
n.4772C=
n.4542+13921C=
2g.227008127G>TCA351140660COL4A4c.302C>A (p.Ala101Glu)
c.4700C>A (p.Ala1567Glu)
c.4145C>A (p.Ala1382Glu)
c.4511C>A (p.Ala1504Glu)
c.4216+13921C>A (n.4216+13921C>A)
c.4619C>A (p.Ala1540Glu)
c.4592C>A (p.Ala1531Glu)
c.*33C>A (n.*33C>A)
c.3026C>A (p.Ala1009Glu)
n.5010C>A
n.4526+13921C>A
c.4583C>A (p.Ala1528Glu)
n.5026C>A
n.4772C>A
n.4542+13921C>A
2g.227008128C>ACA351140661COL4A4c.301G>T (p.Ala101Ser)
c.4699G>T (p.Ala1567Ser)
c.4144G>T (p.Ala1382Ser)
c.4510G>T (p.Ala1504Ser)
c.4216+13920G>T (n.4216+13920G>T)
c.4618G>T (p.Ala1540Ser)
c.4591G>T (p.Ala1531Ser)
c.*32G>T (n.*32G>T)
c.3025G>T (p.Ala1009Ser)
n.5009G>T
n.4526+13920G>T
c.4582G>T (p.Ala1528Ser)
n.5025G>T
n.4771G>T
n.4542+13920G>T
 dbSNP
2g.227008128C=CA1332723922COL4A4c.301G= (p.Ala101=)
c.4699G= (p.Ala1567=)
c.4144G= (p.Ala1382=)
c.4510G= (p.Ala1504=)
c.4216+13920G= (n.4216+13920G=)
c.4618G= (p.Ala1540=)
c.4591G= (p.Ala1531=)
c.*32G= (n.*32G=)
c.3025G= (p.Ala1009=)
n.5009G=
n.4526+13920G=
c.4582G= (p.Ala1528=)
n.5025G=
n.4771G=
n.4542+13920G=
2g.227008128C>GCA351140662COL4A4c.301G>C (p.Ala101Pro)
c.4699G>C (p.Ala1567Pro)
c.4144G>C (p.Ala1382Pro)
c.4510G>C (p.Ala1504Pro)
c.4216+13920G>C (n.4216+13920G>C)
c.4618G>C (p.Ala1540Pro)
c.4591G>C (p.Ala1531Pro)
c.*32G>C (n.*32G>C)
c.3025G>C (p.Ala1009Pro)
n.5009G>C
n.4526+13920G>C
c.4582G>C (p.Ala1528Pro)
n.5025G>C
n.4771G>C
n.4542+13920G>C
 gnomAD v4
2g.227008128C>TCA351140663COL4A4c.301G>A (p.Ala101Thr)
c.4699G>A (p.Ala1567Thr)
c.4144G>A (p.Ala1382Thr)
c.4510G>A (p.Ala1504Thr)
c.4216+13920G>A (n.4216+13920G>A)
c.4618G>A (p.Ala1540Thr)
c.4591G>A (p.Ala1531Thr)
c.*32G>A (n.*32G>A)
c.3025G>A (p.Ala1009Thr)
n.5009G>A
n.4526+13920G>A
c.4582G>A (p.Ala1528Thr)
n.5025G>A
n.4771G>A
n.4542+13920G>A
2g.227008128_227008129delinsCACA1332723921COL4A4c.300_301delinsTG (p.Cys100=)
c.4698_4699delinsTG (p.Cys1566=)
c.4143_4144delinsTG (p.Cys1381=)
c.4509_4510delinsTG (p.Cys1503=)
c.4216+13919_4216+13920delinsTG (n.4216+13919_4216+13920delinsTG)
c.4617_4618delinsTG (p.Cys1539=)
c.4590_4591delinsTG (p.Cys1530=)
c.*31_*32delinsTG (n.*31_*32delinsTG)
c.3024_3025delinsTG (p.Cys1008=)
n.5008_5009delinsTG
n.4526+13919_4526+13920delinsTG
c.4581_4582delinsTG (p.Cys1527=)
n.5024_5025delinsTG
n.4770_4771delinsTG
n.4542+13919_4542+13920delinsTG
2g.227008129delCA2144093COL4A4c.300del (p.Cys100TrpfsTer?)
c.4698del (p.Cys1566TrpfsTer?)
c.4143del (p.Cys1381TrpfsTer?)
c.4509del (p.Cys1503TrpfsTer?)
c.4216+13919del (n.4216+13919del)
c.4617del (p.Cys1539TrpfsTer?)
c.4590del (p.Cys1530TrpfsTer?)
c.*31del (n.*31del)
c.3024del (p.Cys1008TrpfsTer?)
n.5008del
n.4526+13919del
c.4581del (p.Cys1527TrpfsTer?)
n.5024del
n.4770del
n.4542+13919del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008129A>CCA351140665COL4A4c.300T>G (p.Cys100Trp)
c.4698T>G (p.Cys1566Trp)
c.4143T>G (p.Cys1381Trp)
c.4509T>G (p.Cys1503Trp)
c.4216+13919T>G (n.4216+13919T>G)
c.4617T>G (p.Cys1539Trp)
c.4590T>G (p.Cys1530Trp)
c.*31T>G (n.*31T>G)
c.3024T>G (p.Cys1008Trp)
n.5008T>G
n.4526+13919T>G
c.4581T>G (p.Cys1527Trp)
n.5024T>G
n.4770T>G
n.4542+13919T>G
2g.227008129A>GCA431672151COL4A4c.300T>C (p.Cys100=)
c.4698T>C (p.Cys1566=)
c.4143T>C (p.Cys1381=)
c.4509T>C (p.Cys1503=)
c.4216+13919T>C (n.4216+13919T>C)
c.4617T>C (p.Cys1539=)
c.4590T>C (p.Cys1530=)
c.*31T>C (n.*31T>C)
c.3024T>C (p.Cys1008=)
n.5008T>C
n.4526+13919T>C
c.4581T>C (p.Cys1527=)
n.5024T>C
n.4770T>C
n.4542+13919T>C
 gnomAD v4
2g.227008129A>TCA351140664COL4A4c.300T>A (p.Cys100Ter)
c.4698T>A (p.Cys1566Ter)
c.4143T>A (p.Cys1381Ter)
c.4509T>A (p.Cys1503Ter)
c.4216+13919T>A (n.4216+13919T>A)
c.4617T>A (p.Cys1539Ter)
c.4590T>A (p.Cys1530Ter)
c.*31T>A (n.*31T>A)
c.3024T>A (p.Cys1008Ter)
n.5008T>A
n.4526+13919T>A
c.4581T>A (p.Cys1527Ter)
n.5024T>A
n.4770T>A
n.4542+13919T>A
2g.227008130C>ACA351140666COL4A4c.299G>T (p.Cys100Phe)
c.4697G>T (p.Cys1566Phe)
c.4142G>T (p.Cys1381Phe)
c.4508G>T (p.Cys1503Phe)
c.4216+13918G>T (n.4216+13918G>T)
c.4616G>T (p.Cys1539Phe)
c.4589G>T (p.Cys1530Phe)
c.*30G>T (n.*30G>T)
c.3023G>T (p.Cys1008Phe)
n.5007G>T
n.4526+13918G>T
c.4580G>T (p.Cys1527Phe)
n.5023G>T
n.4769G>T
n.4542+13918G>T
2g.227008130C>GCA351140667COL4A4c.299G>C (p.Cys100Ser)
c.4697G>C (p.Cys1566Ser)
c.4142G>C (p.Cys1381Ser)
c.4508G>C (p.Cys1503Ser)
c.4216+13918G>C (n.4216+13918G>C)
c.4616G>C (p.Cys1539Ser)
c.4589G>C (p.Cys1530Ser)
c.*30G>C (n.*30G>C)
c.3023G>C (p.Cys1008Ser)
n.5007G>C
n.4526+13918G>C
c.4580G>C (p.Cys1527Ser)
n.5023G>C
n.4769G>C
n.4542+13918G>C
2g.227008130C>TCA351140668COL4A4c.299G>A (p.Cys100Tyr)
c.4697G>A (p.Cys1566Tyr)
c.4142G>A (p.Cys1381Tyr)
c.4508G>A (p.Cys1503Tyr)
c.4216+13918G>A (n.4216+13918G>A)
c.4616G>A (p.Cys1539Tyr)
c.4589G>A (p.Cys1530Tyr)
c.*30G>A (n.*30G>A)
c.3023G>A (p.Cys1008Tyr)
n.5007G>A
n.4526+13918G>A
c.4580G>A (p.Cys1527Tyr)
n.5023G>A
n.4769G>A
n.4542+13918G>A
 gnomAD v4
2g.227008131A=CA1332723923COL4A4c.298T= (p.Cys100=)
c.4696T= (p.Cys1566=)
c.4141T= (p.Cys1381=)
c.4507T= (p.Cys1503=)
c.4216+13917T= (n.4216+13917T=)
c.4615T= (p.Cys1539=)
c.4588T= (p.Cys1530=)
c.*29T= (n.*29T=)
c.3022T= (p.Cys1008=)
n.5006T=
n.4526+13917T=
c.4579T= (p.Cys1527=)
n.5022T=
n.4768T=
n.4542+13917T=
2g.227008131A>CCA351140669COL4A4c.298T>G (p.Cys100Gly)
c.4696T>G (p.Cys1566Gly)
c.4141T>G (p.Cys1381Gly)
c.4507T>G (p.Cys1503Gly)
c.4216+13917T>G (n.4216+13917T>G)
c.4615T>G (p.Cys1539Gly)
c.4588T>G (p.Cys1530Gly)
c.*29T>G (n.*29T>G)
c.3022T>G (p.Cys1008Gly)
n.5006T>G
n.4526+13917T>G
c.4579T>G (p.Cys1527Gly)
n.5022T>G
n.4768T>G
n.4542+13917T>G
 dbSNP gnomAD v2 gnomAD v4
2g.227008131A>GCA351140670COL4A4c.298T>C (p.Cys100Arg)
c.4696T>C (p.Cys1566Arg)
c.4141T>C (p.Cys1381Arg)
c.4507T>C (p.Cys1503Arg)
c.4216+13917T>C (n.4216+13917T>C)
c.4615T>C (p.Cys1539Arg)
c.4588T>C (p.Cys1530Arg)
c.*29T>C (n.*29T>C)
c.3022T>C (p.Cys1008Arg)
n.5006T>C
n.4526+13917T>C
c.4579T>C (p.Cys1527Arg)
n.5022T>C
n.4768T>C
n.4542+13917T>C
2g.227008131A>TCA351140671COL4A4c.298T>A (p.Cys100Ser)
c.4696T>A (p.Cys1566Ser)
c.4141T>A (p.Cys1381Ser)
c.4507T>A (p.Cys1503Ser)
c.4216+13917T>A (n.4216+13917T>A)
c.4615T>A (p.Cys1539Ser)
c.4588T>A (p.Cys1530Ser)
c.*29T>A (n.*29T>A)
c.3022T>A (p.Cys1008Ser)
n.5006T>A
n.4526+13917T>A
c.4579T>A (p.Cys1527Ser)
n.5022T>A
n.4768T>A
n.4542+13917T>A
2g.227008132G>ACA431671869COL4A4c.297C>T (p.Arg99=)
c.4695C>T (p.Arg1565=)
c.4140C>T (p.Arg1380=)
c.4506C>T (p.Arg1502=)
c.4216+13916C>T (n.4216+13916C>T)
c.4614C>T (p.Arg1538=)
c.4587C>T (p.Arg1529=)
c.*28C>T (n.*28C>T)
c.3021C>T (p.Arg1007=)
n.5005C>T
n.4526+13916C>T
c.4578C>T (p.Arg1526=)
n.5021C>T
n.4767C>T
n.4542+13916C>T
 gnomAD v4
2g.227008132G>CCA431671870COL4A4c.297C>G (p.Arg99=)
c.4695C>G (p.Arg1565=)
c.4140C>G (p.Arg1380=)
c.4506C>G (p.Arg1502=)
c.4216+13916C>G (n.4216+13916C>G)
c.4614C>G (p.Arg1538=)
c.4587C>G (p.Arg1529=)
c.*28C>G (n.*28C>G)
c.3021C>G (p.Arg1007=)
n.5005C>G
n.4526+13916C>G
c.4578C>G (p.Arg1526=)
n.5021C>G
n.4767C>G
n.4542+13916C>G
2g.227008132G=CA1332723924COL4A4c.297C= (p.Arg99=)
c.4695C= (p.Arg1565=)
c.4140C= (p.Arg1380=)
c.4506C= (p.Arg1502=)
c.4216+13916C= (n.4216+13916C=)
c.4614C= (p.Arg1538=)
c.4587C= (p.Arg1529=)
c.*28C= (n.*28C=)
c.3021C= (p.Arg1007=)
n.5005C=
n.4526+13916C=
c.4578C= (p.Arg1526=)
n.5021C=
n.4767C=
n.4542+13916C=
2g.227008132G>TCA431671871COL4A4c.297C>A (p.Arg99=)
c.4695C>A (p.Arg1565=)
c.4140C>A (p.Arg1380=)
c.4506C>A (p.Arg1502=)
c.4216+13916C>A (n.4216+13916C>A)
c.4614C>A (p.Arg1538=)
c.4587C>A (p.Arg1529=)
c.*28C>A (n.*28C>A)
c.3021C>A (p.Arg1007=)
n.5005C>A
n.4526+13916C>A
c.4578C>A (p.Arg1526=)
n.5021C>A
n.4767C>A
n.4542+13916C>A
 dbSNP
2g.227008133C>ACA351140672COL4A4c.296G>T (p.Arg99Leu)
c.4694G>T (p.Arg1565Leu)
c.4139G>T (p.Arg1380Leu)
c.4505G>T (p.Arg1502Leu)
c.4216+13915G>T (n.4216+13915G>T)
c.4613G>T (p.Arg1538Leu)
c.4586G>T (p.Arg1529Leu)
c.*27G>T (n.*27G>T)
c.3020G>T (p.Arg1007Leu)
n.5004G>T
n.4526+13915G>T
c.4577G>T (p.Arg1526Leu)
n.5020G>T
n.4766G>T
n.4542+13915G>T
 dbSNP
2g.227008133C=CA1332723925COL4A4c.296G= (p.Arg99=)
c.4694G= (p.Arg1565=)
c.4139G= (p.Arg1380=)
c.4505G= (p.Arg1502=)
c.4216+13915G= (n.4216+13915G=)
c.4613G= (p.Arg1538=)
c.4586G= (p.Arg1529=)
c.*27G= (n.*27G=)
c.3020G= (p.Arg1007=)
n.5004G=
n.4526+13915G=
c.4577G= (p.Arg1526=)
n.5020G=
n.4766G=
n.4542+13915G=
2g.227008133C>GCA351140673COL4A4c.296G>C (p.Arg99Pro)
c.4694G>C (p.Arg1565Pro)
c.4139G>C (p.Arg1380Pro)
c.4505G>C (p.Arg1502Pro)
c.4216+13915G>C (n.4216+13915G>C)
c.4613G>C (p.Arg1538Pro)
c.4586G>C (p.Arg1529Pro)
c.*27G>C (n.*27G>C)
c.3020G>C (p.Arg1007Pro)
n.5004G>C
n.4526+13915G>C
c.4577G>C (p.Arg1526Pro)
n.5020G>C
n.4766G>C
n.4542+13915G>C
2g.227008133C>TCA2144094COL4A4c.296G>A (p.Arg99His)
c.4694G>A (p.Arg1565His)
c.4139G>A (p.Arg1380His)
c.4505G>A (p.Arg1502His)
c.4216+13915G>A (n.4216+13915G>A)
c.4613G>A (p.Arg1538His)
c.4586G>A (p.Arg1529His)
c.*27G>A (n.*27G>A)
c.3020G>A (p.Arg1007His)
n.5004G>A
n.4526+13915G>A
c.4577G>A (p.Arg1526His)
n.5020G>A
n.4766G>A
n.4542+13915G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008134G>ACA2144095COL4A4c.295C>T (p.Arg99Cys)
c.4693C>T (p.Arg1565Cys)
c.4138C>T (p.Arg1380Cys)
c.4504C>T (p.Arg1502Cys)
c.4216+13914C>T (n.4216+13914C>T)
c.4612C>T (p.Arg1538Cys)
c.4585C>T (p.Arg1529Cys)
c.*26C>T (n.*26C>T)
c.3019C>T (p.Arg1007Cys)
n.5003C>T
n.4526+13914C>T
c.4576C>T (p.Arg1526Cys)
n.5019C>T
n.4765C>T
n.4542+13914C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008134G>CCA351140674COL4A4c.295C>G (p.Arg99Gly)
c.4693C>G (p.Arg1565Gly)
c.4138C>G (p.Arg1380Gly)
c.4504C>G (p.Arg1502Gly)
c.4216+13914C>G (n.4216+13914C>G)
c.4612C>G (p.Arg1538Gly)
c.4585C>G (p.Arg1529Gly)
c.*26C>G (n.*26C>G)
c.3019C>G (p.Arg1007Gly)
n.5003C>G
n.4526+13914C>G
c.4576C>G (p.Arg1526Gly)
n.5019C>G
n.4765C>G
n.4542+13914C>G
2g.227008134G=CA1332723926COL4A4c.295C= (p.Arg99=)
c.4693C= (p.Arg1565=)
c.4138C= (p.Arg1380=)
c.4504C= (p.Arg1502=)
c.4216+13914C= (n.4216+13914C=)
c.4612C= (p.Arg1538=)
c.4585C= (p.Arg1529=)
c.*26C= (n.*26C=)
c.3019C= (p.Arg1007=)
n.5003C=
n.4526+13914C=
c.4576C= (p.Arg1526=)
n.5019C=
n.4765C=
n.4542+13914C=
2g.227008134G>TCA351140675COL4A4c.295C>A (p.Arg99Ser)
c.4693C>A (p.Arg1565Ser)
c.4138C>A (p.Arg1380Ser)
c.4504C>A (p.Arg1502Ser)
c.4216+13914C>A (n.4216+13914C>A)
c.4612C>A (p.Arg1538Ser)
c.4585C>A (p.Arg1529Ser)
c.*26C>A (n.*26C>A)
c.3019C>A (p.Arg1007Ser)
n.5003C>A
n.4526+13914C>A
c.4576C>A (p.Arg1526Ser)
n.5019C>A
n.4765C>A
n.4542+13914C>A
2g.227008135G>ACA431671873COL4A4c.294C>T (p.Ser98=)
c.4692C>T (p.Ser1564=)
c.4137C>T (p.Ser1379=)
c.4503C>T (p.Ser1501=)
c.4216+13913C>T (n.4216+13913C>T)
c.4611C>T (p.Ser1537=)
c.4584C>T (p.Ser1528=)
c.*25C>T (n.*25C>T)
c.3018C>T (p.Ser1006=)
n.5002C>T
n.4526+13913C>T
c.4575C>T (p.Ser1525=)
n.5018C>T
n.4764C>T
n.4542+13913C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008135G>CCA351140676COL4A4c.294C>G (p.Ser98Arg)
c.4692C>G (p.Ser1564Arg)
c.4137C>G (p.Ser1379Arg)
c.4503C>G (p.Ser1501Arg)
c.4216+13913C>G (n.4216+13913C>G)
c.4611C>G (p.Ser1537Arg)
c.4584C>G (p.Ser1528Arg)
c.*25C>G (n.*25C>G)
c.3018C>G (p.Ser1006Arg)
n.5002C>G
n.4526+13913C>G
c.4575C>G (p.Ser1525Arg)
n.5018C>G
n.4764C>G
n.4542+13913C>G
2g.227008135G=CA1332723927COL4A4c.294C= (p.Ser98=)
c.4692C= (p.Ser1564=)
c.4137C= (p.Ser1379=)
c.4503C= (p.Ser1501=)
c.4216+13913C= (n.4216+13913C=)
c.4611C= (p.Ser1537=)
c.4584C= (p.Ser1528=)
c.*25C= (n.*25C=)
c.3018C= (p.Ser1006=)
n.5002C=
n.4526+13913C=
c.4575C= (p.Ser1525=)
n.5018C=
n.4764C=
n.4542+13913C=
2g.227008135G>TCA351140677COL4A4c.294C>A (p.Ser98Arg)
c.4692C>A (p.Ser1564Arg)
c.4137C>A (p.Ser1379Arg)
c.4503C>A (p.Ser1501Arg)
c.4216+13913C>A (n.4216+13913C>A)
c.4611C>A (p.Ser1537Arg)
c.4584C>A (p.Ser1528Arg)
c.*25C>A (n.*25C>A)
c.3018C>A (p.Ser1006Arg)
n.5002C>A
n.4526+13913C>A
c.4575C>A (p.Ser1525Arg)
n.5018C>A
n.4764C>A
n.4542+13913C>A
2g.227008136C>ACA351140679COL4A4c.293G>T (p.Ser98Ile)
c.4691G>T (p.Ser1564Ile)
c.4136G>T (p.Ser1379Ile)
c.4502G>T (p.Ser1501Ile)
c.4216+13912G>T (n.4216+13912G>T)
c.4610G>T (p.Ser1537Ile)
c.4583G>T (p.Ser1528Ile)
c.*24G>T (n.*24G>T)
c.3017G>T (p.Ser1006Ile)
n.5001G>T
n.4526+13912G>T
c.4574G>T (p.Ser1525Ile)
n.5017G>T
n.4763G>T
n.4542+13912G>T
2g.227008136C>GCA351140680COL4A4c.293G>C (p.Ser98Thr)
c.4691G>C (p.Ser1564Thr)
c.4136G>C (p.Ser1379Thr)
c.4502G>C (p.Ser1501Thr)
c.4216+13912G>C (n.4216+13912G>C)
c.4610G>C (p.Ser1537Thr)
c.4583G>C (p.Ser1528Thr)
c.*24G>C (n.*24G>C)
c.3017G>C (p.Ser1006Thr)
n.5001G>C
n.4526+13912G>C
c.4574G>C (p.Ser1525Thr)
n.5017G>C
n.4763G>C
n.4542+13912G>C
2g.227008136C>TCA351140678COL4A4c.293G>A (p.Ser98Asn)
c.4691G>A (p.Ser1564Asn)
c.4136G>A (p.Ser1379Asn)
c.4502G>A (p.Ser1501Asn)
c.4216+13912G>A (n.4216+13912G>A)
c.4610G>A (p.Ser1537Asn)
c.4583G>A (p.Ser1528Asn)
c.*24G>A (n.*24G>A)
c.3017G>A (p.Ser1006Asn)
n.5001G>A
n.4526+13912G>A
c.4574G>A (p.Ser1525Asn)
n.5017G>A
n.4763G>A
n.4542+13912G>A
 gnomAD v4
2g.227008137T>ACA351140681COL4A4c.292A>T (p.Ser98Cys)
c.4690A>T (p.Ser1564Cys)
c.4135A>T (p.Ser1379Cys)
c.4501A>T (p.Ser1501Cys)
c.4216+13911A>T (n.4216+13911A>T)
c.4609A>T (p.Ser1537Cys)
c.4582A>T (p.Ser1528Cys)
c.*23A>T (n.*23A>T)
c.3016A>T (p.Ser1006Cys)
n.5000A>T
n.4526+13911A>T
c.4573A>T (p.Ser1525Cys)
n.5016A>T
n.4762A>T
n.4542+13911A>T
2g.227008137T>CCA351140682COL4A4c.292A>G (p.Ser98Gly)
c.4690A>G (p.Ser1564Gly)
c.4135A>G (p.Ser1379Gly)
c.4501A>G (p.Ser1501Gly)
c.4216+13911A>G (n.4216+13911A>G)
c.4609A>G (p.Ser1537Gly)
c.4582A>G (p.Ser1528Gly)
c.*23A>G (n.*23A>G)
c.3016A>G (p.Ser1006Gly)
n.5000A>G
n.4526+13911A>G
c.4573A>G (p.Ser1525Gly)
n.5016A>G
n.4762A>G
n.4542+13911A>G
2g.227008137T>GCA351140683COL4A4c.292A>C (p.Ser98Arg)
c.4690A>C (p.Ser1564Arg)
c.4135A>C (p.Ser1379Arg)
c.4501A>C (p.Ser1501Arg)
c.4216+13911A>C (n.4216+13911A>C)
c.4609A>C (p.Ser1537Arg)
c.4582A>C (p.Ser1528Arg)
c.*23A>C (n.*23A>C)
c.3016A>C (p.Ser1006Arg)
n.5000A>C
n.4526+13911A>C
c.4573A>C (p.Ser1525Arg)
n.5016A>C
n.4762A>C
n.4542+13911A>C
2g.227008138G>ACA431671879COL4A4c.291C>T (p.Val97=)
c.4689C>T (p.Val1563=)
c.4134C>T (p.Val1378=)
c.4500C>T (p.Val1500=)
c.4216+13910C>T (n.4216+13910C>T)
c.4608C>T (p.Val1536=)
c.4581C>T (p.Val1527=)
c.*22C>T (n.*22C>T)
c.3015C>T (p.Val1005=)
n.4999C>T
n.4526+13910C>T
c.4572C>T (p.Val1524=)
n.5015C>T
n.4761C>T
n.4542+13910C>T
 ClinVar gnomAD v4
2g.227008138G>CCA431671878COL4A4c.291C>G (p.Val97=)
c.4689C>G (p.Val1563=)
c.4134C>G (p.Val1378=)
c.4500C>G (p.Val1500=)
c.4216+13910C>G (n.4216+13910C>G)
c.4608C>G (p.Val1536=)
c.4581C>G (p.Val1527=)
c.*22C>G (n.*22C>G)
c.3015C>G (p.Val1005=)
n.4999C>G
n.4526+13910C>G
c.4572C>G (p.Val1524=)
n.5015C>G
n.4761C>G
n.4542+13910C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227008138G=CA1332723928COL4A4c.291C= (p.Val97=)
c.4689C= (p.Val1563=)
c.4134C= (p.Val1378=)
c.4500C= (p.Val1500=)
c.4216+13910C= (n.4216+13910C=)
c.4608C= (p.Val1536=)
c.4581C= (p.Val1527=)
c.*22C= (n.*22C=)
c.3015C= (p.Val1005=)
n.4999C=
n.4526+13910C=
c.4572C= (p.Val1524=)
n.5015C=
n.4761C=
n.4542+13910C=
2g.227008138G>TCA431671877COL4A4c.291C>A (p.Val97=)
c.4689C>A (p.Val1563=)
c.4134C>A (p.Val1378=)
c.4500C>A (p.Val1500=)
c.4216+13910C>A (n.4216+13910C>A)
c.4608C>A (p.Val1536=)
c.4581C>A (p.Val1527=)
c.*22C>A (n.*22C>A)
c.3015C>A (p.Val1005=)
n.4999C>A
n.4526+13910C>A
c.4572C>A (p.Val1524=)
n.5015C>A
n.4761C>A
n.4542+13910C>A
2g.227008139A>CCA351140684COL4A4c.290T>G (p.Val97Gly)
c.4688T>G (p.Val1563Gly)
c.4133T>G (p.Val1378Gly)
c.4499T>G (p.Val1500Gly)
c.4216+13909T>G (n.4216+13909T>G)
c.4607T>G (p.Val1536Gly)
c.4580T>G (p.Val1527Gly)
c.*21T>G (n.*21T>G)
c.3014T>G (p.Val1005Gly)
n.4998T>G
n.4526+13909T>G
c.4571T>G (p.Val1524Gly)
n.5014T>G
n.4760T>G
n.4542+13909T>G
 ClinVar dbSNP
2g.227008139A>GCA351140685COL4A4c.290T>C (p.Val97Ala)
c.4688T>C (p.Val1563Ala)
c.4133T>C (p.Val1378Ala)
c.4499T>C (p.Val1500Ala)
c.4216+13909T>C (n.4216+13909T>C)
c.4607T>C (p.Val1536Ala)
c.4580T>C (p.Val1527Ala)
c.*21T>C (n.*21T>C)
c.3014T>C (p.Val1005Ala)
n.4998T>C
n.4526+13909T>C
c.4571T>C (p.Val1524Ala)
n.5014T>C
n.4760T>C
n.4542+13909T>C
 dbSNP gnomAD v3 gnomAD v4
2g.227008139A>TCA351140686COL4A4c.290T>A (p.Val97Asp)
c.4688T>A (p.Val1563Asp)
c.4133T>A (p.Val1378Asp)
c.4499T>A (p.Val1500Asp)
c.4216+13909T>A (n.4216+13909T>A)
c.4607T>A (p.Val1536Asp)
c.4580T>A (p.Val1527Asp)
c.*21T>A (n.*21T>A)
c.3014T>A (p.Val1005Asp)
n.4998T>A
n.4526+13909T>A
c.4571T>A (p.Val1524Asp)
n.5014T>A
n.4760T>A
n.4542+13909T>A
2g.227008140C>ACA351140687COL4A4c.289G>T (p.Val97Phe)
c.4687G>T (p.Val1563Phe)
c.4132G>T (p.Val1378Phe)
c.4498G>T (p.Val1500Phe)
c.4216+13908G>T (n.4216+13908G>T)
c.4606G>T (p.Val1536Phe)
c.4579G>T (p.Val1527Phe)
c.*20G>T (n.*20G>T)
c.3013G>T (p.Val1005Phe)
n.4997G>T
n.4526+13908G>T
c.4570G>T (p.Val1524Phe)
n.5013G>T
n.4759G>T
n.4542+13908G>T
2g.227008140C>GCA351140688COL4A4c.289G>C (p.Val97Leu)
c.4687G>C (p.Val1563Leu)
c.4132G>C (p.Val1378Leu)
c.4498G>C (p.Val1500Leu)
c.4216+13908G>C (n.4216+13908G>C)
c.4606G>C (p.Val1536Leu)
c.4579G>C (p.Val1527Leu)
c.*20G>C (n.*20G>C)
c.3013G>C (p.Val1005Leu)
n.4997G>C
n.4526+13908G>C
c.4570G>C (p.Val1524Leu)
n.5013G>C
n.4759G>C
n.4542+13908G>C
2g.227008140C>TCA351140689COL4A4c.289G>A (p.Val97Ile)
c.4687G>A (p.Val1563Ile)
c.4132G>A (p.Val1378Ile)
c.4498G>A (p.Val1500Ile)
c.4216+13908G>A (n.4216+13908G>A)
c.4606G>A (p.Val1536Ile)
c.4579G>A (p.Val1527Ile)
c.*20G>A (n.*20G>A)
c.3013G>A (p.Val1005Ile)
n.4997G>A
n.4526+13908G>A
c.4570G>A (p.Val1524Ile)
n.5013G>A
n.4759G>A
n.4542+13908G>A
2g.227008140_227008142delinsCATCA1332723929COL4A4c.287_289delinsATG (p.Tyr96=)
c.4685_4687delinsATG (p.Tyr1562=)
c.4130_4132delinsATG (p.Tyr1377=)
c.4496_4498delinsATG (p.Tyr1499=)
c.4216+13906_4216+13908delinsATG (n.4216+13906_4216+13908delinsATG)
c.4604_4606delinsATG (p.Tyr1535=)
c.4577_4579delinsATG (p.Tyr1526=)
c.*18_*20delinsATG (n.*18_*20delinsATG)
c.3011_3013delinsATG (p.Tyr1004=)
n.4995_4997delinsATG
n.4526+13906_4526+13908delinsATG
c.4568_4570delinsATG (p.Tyr1523=)
n.5011_5013delinsATG
n.4757_4759delinsATG
n.4542+13906_4542+13908delinsATG
2g.227008141A>CCA351140690COL4A4c.288T>G (p.Tyr96Ter)
c.4686T>G (p.Tyr1562Ter)
c.4131T>G (p.Tyr1377Ter)
c.4497T>G (p.Tyr1499Ter)
c.4216+13907T>G (n.4216+13907T>G)
c.4605T>G (p.Tyr1535Ter)
c.4578T>G (p.Tyr1526Ter)
c.*19T>G (n.*19T>G)
c.3012T>G (p.Tyr1004Ter)
n.4996T>G
n.4526+13907T>G
c.4569T>G (p.Tyr1523Ter)
n.5012T>G
n.4758T>G
n.4542+13907T>G
2g.227008141A>GCA431671880COL4A4c.288T>C (p.Tyr96=)
c.4686T>C (p.Tyr1562=)
c.4131T>C (p.Tyr1377=)
c.4497T>C (p.Tyr1499=)
c.4216+13907T>C (n.4216+13907T>C)
c.4605T>C (p.Tyr1535=)
c.4578T>C (p.Tyr1526=)
c.*19T>C (n.*19T>C)
c.3012T>C (p.Tyr1004=)
n.4996T>C
n.4526+13907T>C
c.4569T>C (p.Tyr1523=)
n.5012T>C
n.4758T>C
n.4542+13907T>C
 gnomAD v4
2g.227008141A>TCA351140691COL4A4c.288T>A (p.Tyr96Ter)
c.4686T>A (p.Tyr1562Ter)
c.4131T>A (p.Tyr1377Ter)
c.4497T>A (p.Tyr1499Ter)
c.4216+13907T>A (n.4216+13907T>A)
c.4605T>A (p.Tyr1535Ter)
c.4578T>A (p.Tyr1526Ter)
c.*19T>A (n.*19T>A)
c.3012T>A (p.Tyr1004Ter)
n.4996T>A
n.4526+13907T>A
c.4569T>A (p.Tyr1523Ter)
n.5012T>A
n.4758T>A
n.4542+13907T>A
2g.227008142_227008143delCA540312148COL4A4c.287_288del (p.Tyr96CysfsTer?)
c.4685_4686del (p.Tyr1562CysfsTer?)
c.4130_4131del (p.Tyr1377CysfsTer?)
c.4496_4497del (p.Tyr1499CysfsTer?)
c.4216+13906_4216+13907del (n.4216+13906_4216+13907del)
c.4604_4605del (p.Tyr1535CysfsTer?)
c.4577_4578del (p.Tyr1526CysfsTer?)
c.*18_*19del (n.*18_*19del)
c.3011_3012del (p.Tyr1004CysfsTer?)
n.4995_4996del
n.4526+13906_4526+13907del
c.4568_4569del (p.Tyr1523CysfsTer?)
n.5011_5012del
n.4757_4758del
n.4542+13906_4542+13907del
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227008142T>ACA351140694COL4A4c.287A>T (p.Tyr96Phe)
c.4685A>T (p.Tyr1562Phe)
c.4130A>T (p.Tyr1377Phe)
c.4496A>T (p.Tyr1499Phe)
c.4216+13906A>T (n.4216+13906A>T)
c.4604A>T (p.Tyr1535Phe)
c.4577A>T (p.Tyr1526Phe)
c.*18A>T (n.*18A>T)
c.3011A>T (p.Tyr1004Phe)
n.4995A>T
n.4526+13906A>T
c.4568A>T (p.Tyr1523Phe)
n.5011A>T
n.4757A>T
n.4542+13906A>T
 gnomAD v4
2g.227008142T>CCA351140693COL4A4c.287A>G (p.Tyr96Cys)
c.4685A>G (p.Tyr1562Cys)
c.4130A>G (p.Tyr1377Cys)
c.4496A>G (p.Tyr1499Cys)
c.4216+13906A>G (n.4216+13906A>G)
c.4604A>G (p.Tyr1535Cys)
c.4577A>G (p.Tyr1526Cys)
c.*18A>G (n.*18A>G)
c.3011A>G (p.Tyr1004Cys)
n.4995A>G
n.4526+13906A>G
c.4568A>G (p.Tyr1523Cys)
n.5011A>G
n.4757A>G
n.4542+13906A>G
2g.227008142T>GCA351140692COL4A4c.287A>C (p.Tyr96Ser)
c.4685A>C (p.Tyr1562Ser)
c.4130A>C (p.Tyr1377Ser)
c.4496A>C (p.Tyr1499Ser)
c.4216+13906A>C (n.4216+13906A>C)
c.4604A>C (p.Tyr1535Ser)
c.4577A>C (p.Tyr1526Ser)
c.*18A>C (n.*18A>C)
c.3011A>C (p.Tyr1004Ser)
n.4995A>C
n.4526+13906A>C
c.4568A>C (p.Tyr1523Ser)
n.5011A>C
n.4757A>C
n.4542+13906A>C
2g.227008142_227008143delinsTACA1332723930COL4A4c.286_287delinsTA (p.Tyr96=)
c.4684_4685delinsTA (p.Tyr1562=)
c.4129_4130delinsTA (p.Tyr1377=)
c.4495_4496delinsTA (p.Tyr1499=)
c.4216+13905_4216+13906delinsTA (n.4216+13905_4216+13906delinsTA)
c.4603_4604delinsTA (p.Tyr1535=)
c.4576_4577delinsTA (p.Tyr1526=)
c.*17_*18delinsTA (n.*17_*18delinsTA)
c.3010_3011delinsTA (p.Tyr1004=)
n.4994_4995delinsTA
n.4526+13905_4526+13906delinsTA
c.4567_4568delinsTA (p.Tyr1523=)
n.5010_5011delinsTA
n.4756_4757delinsTA
n.4542+13905_4542+13906delinsTA
2g.227008143delCA915940921COL4A4c.286del (p.Tyr96MetfsTer?)
c.4684del (p.Tyr1562MetfsTer?)
c.4129del (p.Tyr1377MetfsTer?)
c.4495del (p.Tyr1499MetfsTer?)
c.4216+13905del (n.4216+13905del)
c.4603del (p.Tyr1535MetfsTer?)
c.4576del (p.Tyr1526MetfsTer?)
c.*17del (n.*17del)
c.3010del (p.Tyr1004MetfsTer?)
n.4994del
n.4526+13905del
c.4567del (p.Tyr1523MetfsTer?)
n.5010del
n.4756del
n.4542+13905del
 ClinVar dbSNP gnomAD v4
2g.227008143A=CA1332723931COL4A4c.286T= (p.Tyr96=)
c.4684T= (p.Tyr1562=)
c.4129T= (p.Tyr1377=)
c.4495T= (p.Tyr1499=)
c.4216+13905T= (n.4216+13905T=)
c.4603T= (p.Tyr1535=)
c.4576T= (p.Tyr1526=)
c.*17T= (n.*17T=)
c.3010T= (p.Tyr1004=)
n.4994T=
n.4526+13905T=
c.4567T= (p.Tyr1523=)
n.5010T=
n.4756T=
n.4542+13905T=
2g.227008143A>CCA351140695COL4A4c.286T>G (p.Tyr96Asp)
c.4684T>G (p.Tyr1562Asp)
c.4129T>G (p.Tyr1377Asp)
c.4495T>G (p.Tyr1499Asp)
c.4216+13905T>G (n.4216+13905T>G)
c.4603T>G (p.Tyr1535Asp)
c.4576T>G (p.Tyr1526Asp)
c.*17T>G (n.*17T>G)
c.3010T>G (p.Tyr1004Asp)
n.4994T>G
n.4526+13905T>G
c.4567T>G (p.Tyr1523Asp)
n.5010T>G
n.4756T>G
n.4542+13905T>G
2g.227008143A>GCA351140696COL4A4c.286T>C (p.Tyr96His)
c.4684T>C (p.Tyr1562His)
c.4129T>C (p.Tyr1377His)
c.4495T>C (p.Tyr1499His)
c.4216+13905T>C (n.4216+13905T>C)
c.4603T>C (p.Tyr1535His)
c.4576T>C (p.Tyr1526His)
c.*17T>C (n.*17T>C)
c.3010T>C (p.Tyr1004His)
n.4994T>C
n.4526+13905T>C
c.4567T>C (p.Tyr1523His)
n.5010T>C
n.4756T>C
n.4542+13905T>C
 dbSNP gnomAD v4
2g.227008143A>TCA351140697COL4A4c.286T>A (p.Tyr96Asn)
c.4684T>A (p.Tyr1562Asn)
c.4129T>A (p.Tyr1377Asn)
c.4495T>A (p.Tyr1499Asn)
c.4216+13905T>A (n.4216+13905T>A)
c.4603T>A (p.Tyr1535Asn)
c.4576T>A (p.Tyr1526Asn)
c.*17T>A (n.*17T>A)
c.3010T>A (p.Tyr1004Asn)
n.4994T>A
n.4526+13905T>A
c.4567T>A (p.Tyr1523Asn)
n.5010T>A
n.4756T>A
n.4542+13905T>A
2g.227008143_227008144delCA2663402638COL4A4c.285_286del (p.Tyr96CysfsTer?)
c.4683_4684del (p.Tyr1562CysfsTer?)
c.4128_4129del (p.Tyr1377CysfsTer?)
c.4494_4495del (p.Tyr1499CysfsTer?)
c.4216+13904_4216+13905del (n.4216+13904_4216+13905del)
c.4602_4603del (p.Tyr1535CysfsTer?)
c.4575_4576del (p.Tyr1526CysfsTer?)
c.*16_*17del (n.*16_*17del)
c.3009_3010del (p.Tyr1004CysfsTer?)
n.4993_4994del
n.4526+13904_4526+13905del
c.4566_4567del (p.Tyr1523CysfsTer?)
n.5009_5010del
n.4755_4756del
n.4542+13904_4542+13905del
 ClinVar gnomAD v4
2g.227008143_227008148delCA913089935COL4A4c.281_286del (p.Arg94_Tyr96delinsHis)
c.4679_4684del (p.Arg1560_Tyr1562delinsHis)
c.4124_4129del (p.Arg1375_Tyr1377delinsHis)
c.4490_4495del (p.Arg1497_Tyr1499delinsHis)
c.4216+13900_4216+13905del (n.4216+13900_4216+13905del)
c.4598_4603del (p.Arg1533_Tyr1535delinsHis)
c.4571_4576del (p.Arg1524_Tyr1526delinsHis)
c.*12_*17del (n.*12_*17del)
c.3005_3010del (p.Arg1002_Tyr1004delinsHis)
n.4989_4994del
n.4526+13900_4526+13905del
c.4562_4567del (p.Arg1521_Tyr1523delinsHis)
n.5005_5010del
n.4751_4756del
n.4542+13900_4542+13905del
2g.227008143_227008148delinsAGGGGCCA1332723932COL4A4c.281_286delinsGCCCCT (p.Arg94=)
c.4679_4684delinsGCCCCT (p.Arg1560=)
c.4124_4129delinsGCCCCT (p.Arg1375=)
c.4490_4495delinsGCCCCT (p.Arg1497=)
c.4216+13900_4216+13905delinsGCCCCT (n.4216+13900_4216+13905delinsGCCCCT)
c.4598_4603delinsGCCCCT (p.Arg1533=)
c.4571_4576delinsGCCCCT (p.Arg1524=)
c.*12_*17delinsGCCCCT (n.*12_*17delinsGCCCCT)
c.3005_3010delinsGCCCCT (p.Arg1002=)
n.4989_4994delinsGCCCCT
n.4526+13900_4526+13905delinsGCCCCT
c.4562_4567delinsGCCCCT (p.Arg1521=)
n.5005_5010delinsGCCCCT
n.4751_4756delinsGCCCCT
n.4542+13900_4542+13905delinsGCCCCT
2g.227008144G>ACA431671883COL4A4c.285C>T (p.Pro95=)
c.4683C>T (p.Pro1561=)
c.4128C>T (p.Pro1376=)
c.4494C>T (p.Pro1498=)
c.4216+13904C>T (n.4216+13904C>T)
c.4602C>T (p.Pro1534=)
c.4575C>T (p.Pro1525=)
c.*16C>T (n.*16C>T)
c.3009C>T (p.Pro1003=)
n.4993C>T
n.4526+13904C>T
c.4566C>T (p.Pro1522=)
n.5009C>T
n.4755C>T
n.4542+13904C>T
 gnomAD v4
2g.227008144G>CCA431671884COL4A4c.285C>G (p.Pro95=)
c.4683C>G (p.Pro1561=)
c.4128C>G (p.Pro1376=)
c.4494C>G (p.Pro1498=)
c.4216+13904C>G (n.4216+13904C>G)
c.4602C>G (p.Pro1534=)
c.4575C>G (p.Pro1525=)
c.*16C>G (n.*16C>G)
c.3009C>G (p.Pro1003=)
n.4993C>G
n.4526+13904C>G
c.4566C>G (p.Pro1522=)
n.5009C>G
n.4755C>G
n.4542+13904C>G
2g.227008144G>TCA431671885COL4A4c.285C>A (p.Pro95=)
c.4683C>A (p.Pro1561=)
c.4128C>A (p.Pro1376=)
c.4494C>A (p.Pro1498=)
c.4216+13904C>A (n.4216+13904C>A)
c.4602C>A (p.Pro1534=)
c.4575C>A (p.Pro1525=)
c.*16C>A (n.*16C>A)
c.3009C>A (p.Pro1003=)
n.4993C>A
n.4526+13904C>A
c.4566C>A (p.Pro1522=)
n.5009C>A
n.4755C>A
n.4542+13904C>A
2g.227008146_227008150delCA658821838COL4A4c.281_285del (p.Arg94LeufsTer?)
c.4679_4683del (p.Arg1560LeufsTer?)
c.4124_4128del (p.Arg1375LeufsTer?)
c.4490_4494del (p.Arg1497LeufsTer?)
c.4216+13900_4216+13904del (n.4216+13900_4216+13904del)
c.4598_4602del (p.Arg1533LeufsTer?)
c.4571_4575del (p.Arg1524LeufsTer?)
c.*12_*16del (n.*12_*16del)
c.3005_3009del (p.Arg1002LeufsTer?)
n.4989_4993del
n.4526+13900_4526+13904del
c.4562_4566del (p.Arg1521LeufsTer?)
n.5005_5009del
n.4751_4755del
n.4542+13900_4542+13904del
 ClinVar dbSNP
2g.227008145G>ACA351140698COL4A4c.284C>T (p.Pro95Leu)
c.4682C>T (p.Pro1561Leu)
c.4127C>T (p.Pro1376Leu)
c.4493C>T (p.Pro1498Leu)
c.4216+13903C>T (n.4216+13903C>T)
c.4601C>T (p.Pro1534Leu)
c.4574C>T (p.Pro1525Leu)
c.*15C>T (n.*15C>T)
c.3008C>T (p.Pro1003Leu)
n.4992C>T
n.4526+13903C>T
c.4565C>T (p.Pro1522Leu)
n.5008C>T
n.4754C>T
n.4542+13903C>T
2g.227008145G>CCA351140699COL4A4c.284C>G (p.Pro95Arg)
c.4682C>G (p.Pro1561Arg)
c.4127C>G (p.Pro1376Arg)
c.4493C>G (p.Pro1498Arg)
c.4216+13903C>G (n.4216+13903C>G)
c.4601C>G (p.Pro1534Arg)
c.4574C>G (p.Pro1525Arg)
c.*15C>G (n.*15C>G)
c.3008C>G (p.Pro1003Arg)
n.4992C>G
n.4526+13903C>G
c.4565C>G (p.Pro1522Arg)
n.5008C>G
n.4754C>G
n.4542+13903C>G
2g.227008145G>TCA351140700COL4A4c.284C>A (p.Pro95His)
c.4682C>A (p.Pro1561His)
c.4127C>A (p.Pro1376His)
c.4493C>A (p.Pro1498His)
c.4216+13903C>A (n.4216+13903C>A)
c.4601C>A (p.Pro1534His)
c.4574C>A (p.Pro1525His)
c.*15C>A (n.*15C>A)
c.3008C>A (p.Pro1003His)
n.4992C>A
n.4526+13903C>A
c.4565C>A (p.Pro1522His)
n.5008C>A
n.4754C>A
n.4542+13903C>A
2g.227008146G>ACA2144096COL4A4c.283C>T (p.Pro95Ser)
c.4681C>T (p.Pro1561Ser)
c.4126C>T (p.Pro1376Ser)
c.4492C>T (p.Pro1498Ser)
c.4216+13902C>T (n.4216+13902C>T)
c.4600C>T (p.Pro1534Ser)
c.4573C>T (p.Pro1525Ser)
c.*14C>T (n.*14C>T)
c.3007C>T (p.Pro1003Ser)
n.4991C>T
n.4526+13902C>T
c.4564C>T (p.Pro1522Ser)
n.5007C>T
n.4753C>T
n.4542+13902C>T
 dbSNP ExAC gnomAD v2
2g.227008146G>CCA351140701COL4A4c.283C>G (p.Pro95Ala)
c.4681C>G (p.Pro1561Ala)
c.4126C>G (p.Pro1376Ala)
c.4492C>G (p.Pro1498Ala)
c.4216+13902C>G (n.4216+13902C>G)
c.4600C>G (p.Pro1534Ala)
c.4573C>G (p.Pro1525Ala)
c.*14C>G (n.*14C>G)
c.3007C>G (p.Pro1003Ala)
n.4991C>G
n.4526+13902C>G
c.4564C>G (p.Pro1522Ala)
n.5007C>G
n.4753C>G
n.4542+13902C>G
2g.227008146G=CA1332723933COL4A4c.283C= (p.Pro95=)
c.4681C= (p.Pro1561=)
c.4126C= (p.Pro1376=)
c.4492C= (p.Pro1498=)
c.4216+13902C= (n.4216+13902C=)
c.4600C= (p.Pro1534=)
c.4573C= (p.Pro1525=)
c.*14C= (n.*14C=)
c.3007C= (p.Pro1003=)
n.4991C=
n.4526+13902C=
c.4564C= (p.Pro1522=)
n.5007C=
n.4753C=
n.4542+13902C=
2g.227008146G>TCA351140702COL4A4c.283C>A (p.Pro95Thr)
c.4681C>A (p.Pro1561Thr)
c.4126C>A (p.Pro1376Thr)
c.4492C>A (p.Pro1498Thr)
c.4216+13902C>A (n.4216+13902C>A)
c.4600C>A (p.Pro1534Thr)
c.4573C>A (p.Pro1525Thr)
c.*14C>A (n.*14C>A)
c.3007C>A (p.Pro1003Thr)
n.4991C>A
n.4526+13902C>A
c.4564C>A (p.Pro1522Thr)
n.5007C>A
n.4753C>A
n.4542+13902C>A
2g.227008147G>ACA431671889COL4A4c.282C>T (p.Arg94=)
c.4680C>T (p.Arg1560=)
c.4125C>T (p.Arg1375=)
c.4491C>T (p.Arg1497=)
c.4216+13901C>T (n.4216+13901C>T)
c.4599C>T (p.Arg1533=)
c.4572C>T (p.Arg1524=)
c.*13C>T (n.*13C>T)
c.3006C>T (p.Arg1002=)
n.4990C>T
n.4526+13901C>T
c.4563C>T (p.Arg1521=)
n.5006C>T
n.4752C>T
n.4542+13901C>T
 ClinVar gnomAD v4
2g.227008147G>CCA431671890COL4A4c.282C>G (p.Arg94=)
c.4680C>G (p.Arg1560=)
c.4125C>G (p.Arg1375=)
c.4491C>G (p.Arg1497=)
c.4216+13901C>G (n.4216+13901C>G)
c.4599C>G (p.Arg1533=)
c.4572C>G (p.Arg1524=)
c.*13C>G (n.*13C>G)
c.3006C>G (p.Arg1002=)
n.4990C>G
n.4526+13901C>G
c.4563C>G (p.Arg1521=)
n.5006C>G
n.4752C>G
n.4542+13901C>G
 gnomAD v4
2g.227008147G>TCA431671891COL4A4c.282C>A (p.Arg94=)
c.4680C>A (p.Arg1560=)
c.4125C>A (p.Arg1375=)
c.4491C>A (p.Arg1497=)
c.4216+13901C>A (n.4216+13901C>A)
c.4599C>A (p.Arg1533=)
c.4572C>A (p.Arg1524=)
c.*13C>A (n.*13C>A)
c.3006C>A (p.Arg1002=)
n.4990C>A
n.4526+13901C>A
c.4563C>A (p.Arg1521=)
n.5006C>A
n.4752C>A
n.4542+13901C>A
2g.227008148C>ACA351140703COL4A4c.281G>T (p.Arg94Leu)
c.4679G>T (p.Arg1560Leu)
c.4124G>T (p.Arg1375Leu)
c.4490G>T (p.Arg1497Leu)
c.4216+13900G>T (n.4216+13900G>T)
c.4598G>T (p.Arg1533Leu)
c.4571G>T (p.Arg1524Leu)
c.*12G>T (n.*12G>T)
c.3005G>T (p.Arg1002Leu)
n.4989G>T
n.4526+13900G>T
c.4562G>T (p.Arg1521Leu)
n.5005G>T
n.4751G>T
n.4542+13900G>T
2g.227008148C=CA1332723934COL4A4c.281G= (p.Arg94=)
c.4679G= (p.Arg1560=)
c.4124G= (p.Arg1375=)
c.4490G= (p.Arg1497=)
c.4216+13900G= (n.4216+13900G=)
c.4598G= (p.Arg1533=)
c.4571G= (p.Arg1524=)
c.*12G= (n.*12G=)
c.3005G= (p.Arg1002=)
n.4989G=
n.4526+13900G=
c.4562G= (p.Arg1521=)
n.5005G=
n.4751G=
n.4542+13900G=
2g.227008148C>GCA351140704COL4A4c.281G>C (p.Arg94Pro)
c.4679G>C (p.Arg1560Pro)
c.4124G>C (p.Arg1375Pro)
c.4490G>C (p.Arg1497Pro)
c.4216+13900G>C (n.4216+13900G>C)
c.4598G>C (p.Arg1533Pro)
c.4571G>C (p.Arg1524Pro)
c.*12G>C (n.*12G>C)
c.3005G>C (p.Arg1002Pro)
n.4989G>C
n.4526+13900G>C
c.4562G>C (p.Arg1521Pro)
n.5005G>C
n.4751G>C
n.4542+13900G>C
 gnomAD v4
2g.227008148C>TCA2144097COL4A4c.281G>A (p.Arg94His)
c.4679G>A (p.Arg1560His)
c.4124G>A (p.Arg1375His)
c.4490G>A (p.Arg1497His)
c.4216+13900G>A (n.4216+13900G>A)
c.4598G>A (p.Arg1533His)
c.4571G>A (p.Arg1524His)
c.*12G>A (n.*12G>A)
c.3005G>A (p.Arg1002His)
n.4989G>A
n.4526+13900G>A
c.4562G>A (p.Arg1521His)
n.5005G>A
n.4751G>A
n.4542+13900G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008149G>ACA2144098COL4A4c.280C>T (p.Arg94Cys)
c.4678C>T (p.Arg1560Cys)
c.4123C>T (p.Arg1375Cys)
c.4489C>T (p.Arg1497Cys)
c.4216+13899C>T (n.4216+13899C>T)
c.4597C>T (p.Arg1533Cys)
c.4570C>T (p.Arg1524Cys)
c.*11C>T (n.*11C>T)
c.3004C>T (p.Arg1002Cys)
n.4988C>T
n.4526+13899C>T
c.4561C>T (p.Arg1521Cys)
n.5004C>T
n.4750C>T
n.4542+13899C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008149G>CCA351140706COL4A4c.280C>G (p.Arg94Gly)
c.4678C>G (p.Arg1560Gly)
c.4123C>G (p.Arg1375Gly)
c.4489C>G (p.Arg1497Gly)
c.4216+13899C>G (n.4216+13899C>G)
c.4597C>G (p.Arg1533Gly)
c.4570C>G (p.Arg1524Gly)
c.*11C>G (n.*11C>G)
c.3004C>G (p.Arg1002Gly)
n.4988C>G
n.4526+13899C>G
c.4561C>G (p.Arg1521Gly)
n.5004C>G
n.4750C>G
n.4542+13899C>G
2g.227008149G=CA1332723935COL4A4c.280C= (p.Arg94=)
c.4678C= (p.Arg1560=)
c.4123C= (p.Arg1375=)
c.4489C= (p.Arg1497=)
c.4216+13899C= (n.4216+13899C=)
c.4597C= (p.Arg1533=)
c.4570C= (p.Arg1524=)
c.*11C= (n.*11C=)
c.3004C= (p.Arg1002=)
n.4988C=
n.4526+13899C=
c.4561C= (p.Arg1521=)
n.5004C=
n.4750C=
n.4542+13899C=
2g.227008149G>TCA351140705COL4A4c.280C>A (p.Arg94Ser)
c.4678C>A (p.Arg1560Ser)
c.4123C>A (p.Arg1375Ser)
c.4489C>A (p.Arg1497Ser)
c.4216+13899C>A (n.4216+13899C>A)
c.4597C>A (p.Arg1533Ser)
c.4570C>A (p.Arg1524Ser)
c.*11C>A (n.*11C>A)
c.3004C>A (p.Arg1002Ser)
n.4988C>A
n.4526+13899C>A
c.4561C>A (p.Arg1521Ser)
n.5004C>A
n.4750C>A
n.4542+13899C>A
2g.227008150G>ACA431671893COL4A4c.279C>T (p.Ile93=)
c.4677C>T (p.Ile1559=)
c.4122C>T (p.Ile1374=)
c.4488C>T (p.Ile1496=)
c.4216+13898C>T (n.4216+13898C>T)
c.4596C>T (p.Ile1532=)
c.4569C>T (p.Ile1523=)
c.*10C>T (n.*10C>T)
c.3003C>T (p.Ile1001=)
n.4987C>T
n.4526+13898C>T
c.4560C>T (p.Ile1520=)
n.5003C>T
n.4749C>T
n.4542+13898C>T
2g.227008150G>CCA351140707COL4A4c.279C>G (p.Ile93Met)
c.4677C>G (p.Ile1559Met)
c.4122C>G (p.Ile1374Met)
c.4488C>G (p.Ile1496Met)
c.4216+13898C>G (n.4216+13898C>G)
c.4596C>G (p.Ile1532Met)
c.4569C>G (p.Ile1523Met)
c.*10C>G (n.*10C>G)
c.3003C>G (p.Ile1001Met)
n.4987C>G
n.4526+13898C>G
c.4560C>G (p.Ile1520Met)
n.5003C>G
n.4749C>G
n.4542+13898C>G
2g.227008150G>TCA431671895COL4A4c.279C>A (p.Ile93=)
c.4677C>A (p.Ile1559=)
c.4122C>A (p.Ile1374=)
c.4488C>A (p.Ile1496=)
c.4216+13898C>A (n.4216+13898C>A)
c.4596C>A (p.Ile1532=)
c.4569C>A (p.Ile1523=)
c.*10C>A (n.*10C>A)
c.3003C>A (p.Ile1001=)
n.4987C>A
n.4526+13898C>A
c.4560C>A (p.Ile1520=)
n.5003C>A
n.4749C>A
n.4542+13898C>A
2g.227008151A>CCA351140708COL4A4c.278T>G (p.Ile93Ser)
c.4676T>G (p.Ile1559Ser)
c.4121T>G (p.Ile1374Ser)
c.4487T>G (p.Ile1496Ser)
c.4216+13897T>G (n.4216+13897T>G)
c.4595T>G (p.Ile1532Ser)
c.4568T>G (p.Ile1523Ser)
c.*9T>G (n.*9T>G)
c.3002T>G (p.Ile1001Ser)
n.4986T>G
n.4526+13897T>G
c.4559T>G (p.Ile1520Ser)
n.5002T>G
n.4748T>G
n.4542+13897T>G
2g.227008151A>GCA351140709COL4A4c.278T>C (p.Ile93Thr)
c.4676T>C (p.Ile1559Thr)
c.4121T>C (p.Ile1374Thr)
c.4487T>C (p.Ile1496Thr)
c.4216+13897T>C (n.4216+13897T>C)
c.4595T>C (p.Ile1532Thr)
c.4568T>C (p.Ile1523Thr)
c.*9T>C (n.*9T>C)
c.3002T>C (p.Ile1001Thr)
n.4986T>C
n.4526+13897T>C
c.4559T>C (p.Ile1520Thr)
n.5002T>C
n.4748T>C
n.4542+13897T>C
 gnomAD v4
2g.227008151A>TCA351140710COL4A4c.278T>A (p.Ile93Asn)
c.4676T>A (p.Ile1559Asn)
c.4121T>A (p.Ile1374Asn)
c.4487T>A (p.Ile1496Asn)
c.4216+13897T>A (n.4216+13897T>A)
c.4595T>A (p.Ile1532Asn)
c.4568T>A (p.Ile1523Asn)
c.*9T>A (n.*9T>A)
c.3002T>A (p.Ile1001Asn)
n.4986T>A
n.4526+13897T>A
c.4559T>A (p.Ile1520Asn)
n.5002T>A
n.4748T>A
n.4542+13897T>A
2g.227008152T>ACA351140711COL4A4c.277A>T (p.Ile93Phe)
c.4675A>T (p.Ile1559Phe)
c.4120A>T (p.Ile1374Phe)
c.4486A>T (p.Ile1496Phe)
c.4216+13896A>T (n.4216+13896A>T)
c.4594A>T (p.Ile1532Phe)
c.4567A>T (p.Ile1523Phe)
c.*8A>T (n.*8A>T)
c.3001A>T (p.Ile1001Phe)
n.4985A>T
n.4526+13896A>T
c.4558A>T (p.Ile1520Phe)
n.5001A>T
n.4747A>T
n.4542+13896A>T
2g.227008152T>CCA351140712COL4A4c.277A>G (p.Ile93Val)
c.4675A>G (p.Ile1559Val)
c.4120A>G (p.Ile1374Val)
c.4486A>G (p.Ile1496Val)
c.4216+13896A>G (n.4216+13896A>G)
c.4594A>G (p.Ile1532Val)
c.4567A>G (p.Ile1523Val)
c.*8A>G (n.*8A>G)
c.3001A>G (p.Ile1001Val)
n.4985A>G
n.4526+13896A>G
c.4558A>G (p.Ile1520Val)
n.5001A>G
n.4747A>G
n.4542+13896A>G
2g.227008152T>GCA351140713COL4A4c.277A>C (p.Ile93Leu)
c.4675A>C (p.Ile1559Leu)
c.4120A>C (p.Ile1374Leu)
c.4486A>C (p.Ile1496Leu)
c.4216+13896A>C (n.4216+13896A>C)
c.4594A>C (p.Ile1532Leu)
c.4567A>C (p.Ile1523Leu)
c.*8A>C (n.*8A>C)
c.3001A>C (p.Ile1001Leu)
n.4985A>C
n.4526+13896A>C
c.4558A>C (p.Ile1520Leu)
n.5001A>C
n.4747A>C
n.4542+13896A>C
2g.227008153C>ACA431671897COL4A4c.276G>T (p.Ala92=)
c.4674G>T (p.Ala1558=)
c.4119G>T (p.Ala1373=)
c.4485G>T (p.Ala1495=)
c.4216+13895G>T (n.4216+13895G>T)
c.4593G>T (p.Ala1531=)
c.4566G>T (p.Ala1522=)
c.*7G>T (n.*7G>T)
c.3000G>T (p.Ala1000=)
n.4984G>T
n.4526+13895G>T
c.4557G>T (p.Ala1519=)
n.5000G>T
n.4746G>T
n.4542+13895G>T
2g.227008153C=CA1332723936COL4A4c.276G= (p.Ala92=)
c.4674G= (p.Ala1558=)
c.4119G= (p.Ala1373=)
c.4485G= (p.Ala1495=)
c.4216+13895G= (n.4216+13895G=)
c.4593G= (p.Ala1531=)
c.4566G= (p.Ala1522=)
c.*7G= (n.*7G=)
c.3000G= (p.Ala1000=)
n.4984G=
n.4526+13895G=
c.4557G= (p.Ala1519=)
n.5000G=
n.4746G=
n.4542+13895G=
2g.227008153C>GCA431671898COL4A4c.276G>C (p.Ala92=)
c.4674G>C (p.Ala1558=)
c.4119G>C (p.Ala1373=)
c.4485G>C (p.Ala1495=)
c.4216+13895G>C (n.4216+13895G>C)
c.4593G>C (p.Ala1531=)
c.4566G>C (p.Ala1522=)
c.*7G>C (n.*7G>C)
c.3000G>C (p.Ala1000=)
n.4984G>C
n.4526+13895G>C
c.4557G>C (p.Ala1519=)
n.5000G>C
n.4746G>C
n.4542+13895G>C
 ClinVar
2g.227008153C>TCA2144099COL4A4c.276G>A (p.Ala92=)
c.4674G>A (p.Ala1558=)
c.4119G>A (p.Ala1373=)
c.4485G>A (p.Ala1495=)
c.4216+13895G>A (n.4216+13895G>A)
c.4593G>A (p.Ala1531=)
c.4566G>A (p.Ala1522=)
c.*7G>A (n.*7G>A)
c.3000G>A (p.Ala1000=)
n.4984G>A
n.4526+13895G>A
c.4557G>A (p.Ala1519=)
n.5000G>A
n.4746G>A
n.4542+13895G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008154G>ACA2144100COL4A4c.275C>T (p.Ala92Val)
c.4673C>T (p.Ala1558Val)
c.4118C>T (p.Ala1373Val)
c.4484C>T (p.Ala1495Val)
c.4216+13894C>T (n.4216+13894C>T)
c.4592C>T (p.Ala1531Val)
c.4565C>T (p.Ala1522Val)
c.*6C>T (n.*6C>T)
c.2999C>T (p.Ala1000Val)
n.4983C>T
n.4526+13894C>T
c.4556C>T (p.Ala1519Val)
n.4999C>T
n.4745C>T
n.4542+13894C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008154G>CCA351140714COL4A4c.275C>G (p.Ala92Gly)
c.4673C>G (p.Ala1558Gly)
c.4118C>G (p.Ala1373Gly)
c.4484C>G (p.Ala1495Gly)
c.4216+13894C>G (n.4216+13894C>G)
c.4592C>G (p.Ala1531Gly)
c.4565C>G (p.Ala1522Gly)
c.*6C>G (n.*6C>G)
c.2999C>G (p.Ala1000Gly)
n.4983C>G
n.4526+13894C>G
c.4556C>G (p.Ala1519Gly)
n.4999C>G
n.4745C>G
n.4542+13894C>G
2g.227008154G=CA1332723937COL4A4c.275C= (p.Ala92=)
c.4673C= (p.Ala1558=)
c.4118C= (p.Ala1373=)
c.4484C= (p.Ala1495=)
c.4216+13894C= (n.4216+13894C=)
c.4592C= (p.Ala1531=)
c.4565C= (p.Ala1522=)
c.*6C= (n.*6C=)
c.2999C= (p.Ala1000=)
n.4983C=
n.4526+13894C=
c.4556C= (p.Ala1519=)
n.4999C=
n.4745C=
n.4542+13894C=
2g.227008154G>TCA351140715COL4A4c.275C>A (p.Ala92Glu)
c.4673C>A (p.Ala1558Glu)
c.4118C>A (p.Ala1373Glu)
c.4484C>A (p.Ala1495Glu)
c.4216+13894C>A (n.4216+13894C>A)
c.4592C>A (p.Ala1531Glu)
c.4565C>A (p.Ala1522Glu)
c.*6C>A (n.*6C>A)
c.2999C>A (p.Ala1000Glu)
n.4983C>A
n.4526+13894C>A
c.4556C>A (p.Ala1519Glu)
n.4999C>A
n.4745C>A
n.4542+13894C>A
2g.227008155C>ACA351140716COL4A4c.274G>T (p.Ala92Ser)
c.4672G>T (p.Ala1558Ser)
c.4117G>T (p.Ala1373Ser)
c.4483G>T (p.Ala1495Ser)
c.4216+13893G>T (n.4216+13893G>T)
c.4591G>T (p.Ala1531Ser)
c.4564G>T (p.Ala1522Ser)
c.*5G>T (n.*5G>T)
c.2998G>T (p.Ala1000Ser)
n.4982G>T
n.4526+13893G>T
c.4555G>T (p.Ala1519Ser)
n.4998G>T
n.4744G>T
n.4542+13893G>T
 gnomAD v4
2g.227008155C>GCA351140717COL4A4c.274G>C (p.Ala92Pro)
c.4672G>C (p.Ala1558Pro)
c.4117G>C (p.Ala1373Pro)
c.4483G>C (p.Ala1495Pro)
c.4216+13893G>C (n.4216+13893G>C)
c.4591G>C (p.Ala1531Pro)
c.4564G>C (p.Ala1522Pro)
c.*5G>C (n.*5G>C)
c.2998G>C (p.Ala1000Pro)
n.4982G>C
n.4526+13893G>C
c.4555G>C (p.Ala1519Pro)
n.4998G>C
n.4744G>C
n.4542+13893G>C
2g.227008155C>TCA351140718COL4A4c.274G>A (p.Ala92Thr)
c.4672G>A (p.Ala1558Thr)
c.4117G>A (p.Ala1373Thr)
c.4483G>A (p.Ala1495Thr)
c.4216+13893G>A (n.4216+13893G>A)
c.4591G>A (p.Ala1531Thr)
c.4564G>A (p.Ala1522Thr)
c.*5G>A (n.*5G>A)
c.2998G>A (p.Ala1000Thr)
n.4982G>A
n.4526+13893G>A
c.4555G>A (p.Ala1519Thr)
n.4998G>A
n.4744G>A
n.4542+13893G>A
 gnomAD v4
2g.227008156C>ACA351140719COL4A4c.273G>T (p.Glu91Asp)
c.4671G>T (p.Glu1557Asp)
c.4116G>T (p.Glu1372Asp)
c.4482G>T (p.Glu1494Asp)
c.4216+13892G>T (n.4216+13892G>T)
c.4590G>T (p.Glu1530Asp)
c.4563G>T (p.Glu1521Asp)
c.*4G>T (n.*4G>T)
c.2997G>T (p.Glu999Asp)
n.4981G>T
n.4526+13892G>T
c.4554G>T (p.Glu1518Asp)
n.4997G>T
n.4743G>T
n.4542+13892G>T
2g.227008156C>GCA351140720COL4A4c.273G>C (p.Glu91Asp)
c.4671G>C (p.Glu1557Asp)
c.4116G>C (p.Glu1372Asp)
c.4482G>C (p.Glu1494Asp)
c.4216+13892G>C (n.4216+13892G>C)
c.4590G>C (p.Glu1530Asp)
c.4563G>C (p.Glu1521Asp)
c.*4G>C (n.*4G>C)
c.2997G>C (p.Glu999Asp)
n.4981G>C
n.4526+13892G>C
c.4554G>C (p.Glu1518Asp)
n.4997G>C
n.4743G>C
n.4542+13892G>C
2g.227008156C>TCA431671900COL4A4c.273G>A (p.Glu91=)
c.4671G>A (p.Glu1557=)
c.4116G>A (p.Glu1372=)
c.4482G>A (p.Glu1494=)
c.4216+13892G>A (n.4216+13892G>A)
c.4590G>A (p.Glu1530=)
c.4563G>A (p.Glu1521=)
c.*4G>A (n.*4G>A)
c.2997G>A (p.Glu999=)
n.4981G>A
n.4526+13892G>A
c.4554G>A (p.Glu1518=)
n.4997G>A
n.4743G>A
n.4542+13892G>A
 ClinVar
2g.227008157T>ACA351140721COL4A4c.272A>T (p.Glu91Val)
c.4670A>T (p.Glu1557Val)
c.4115A>T (p.Glu1372Val)
c.4481A>T (p.Glu1494Val)
c.4216+13891A>T (n.4216+13891A>T)
c.4589A>T (p.Glu1530Val)
c.4562A>T (p.Glu1521Val)
c.*3A>T (n.*3A>T)
c.2996A>T (p.Glu999Val)
n.4980A>T
n.4526+13891A>T
c.4553A>T (p.Glu1518Val)
n.4996A>T
n.4742A>T
n.4542+13891A>T
2g.227008157T>CCA351140722COL4A4c.272A>G (p.Glu91Gly)
c.4670A>G (p.Glu1557Gly)
c.4115A>G (p.Glu1372Gly)
c.4481A>G (p.Glu1494Gly)
c.4216+13891A>G (n.4216+13891A>G)
c.4589A>G (p.Glu1530Gly)
c.4562A>G (p.Glu1521Gly)
c.*3A>G (n.*3A>G)
c.2996A>G (p.Glu999Gly)
n.4980A>G
n.4526+13891A>G
c.4553A>G (p.Glu1518Gly)
n.4996A>G
n.4742A>G
n.4542+13891A>G
 gnomAD v4
2g.227008157T>GCA351140723COL4A4c.272A>C (p.Glu91Ala)
c.4670A>C (p.Glu1557Ala)
c.4115A>C (p.Glu1372Ala)
c.4481A>C (p.Glu1494Ala)
c.4216+13891A>C (n.4216+13891A>C)
c.4589A>C (p.Glu1530Ala)
c.4562A>C (p.Glu1521Ala)
c.*3A>C (n.*3A>C)
c.2996A>C (p.Glu999Ala)
n.4980A>C
n.4526+13891A>C
c.4553A>C (p.Glu1518Ala)
n.4996A>C
n.4742A>C
n.4542+13891A>C
2g.227008158C>ACA351140724COL4A4c.271G>T (p.Glu91Ter)
c.4669G>T (p.Glu1557Ter)
c.4114G>T (p.Glu1372Ter)
c.4480G>T (p.Glu1494Ter)
c.4216+13890G>T (n.4216+13890G>T)
c.4588G>T (p.Glu1530Ter)
c.4561G>T (p.Glu1521Ter)
c.*2G>T (n.*2G>T)
c.2995G>T (p.Glu999Ter)
n.4979G>T
n.4526+13890G>T
c.4552G>T (p.Glu1518Ter)
n.4995G>T
n.4741G>T
n.4542+13890G>T
 gnomAD v4
2g.227008158C>GCA351140725COL4A4c.271G>C (p.Glu91Gln)
c.4669G>C (p.Glu1557Gln)
c.4114G>C (p.Glu1372Gln)
c.4480G>C (p.Glu1494Gln)
c.4216+13890G>C (n.4216+13890G>C)
c.4588G>C (p.Glu1530Gln)
c.4561G>C (p.Glu1521Gln)
c.*2G>C (n.*2G>C)
c.2995G>C (p.Glu999Gln)
n.4979G>C
n.4526+13890G>C
c.4552G>C (p.Glu1518Gln)
n.4995G>C
n.4741G>C
n.4542+13890G>C
 gnomAD v4
2g.227008158C>TCA351140726COL4A4c.271G>A (p.Glu91Lys)
c.4669G>A (p.Glu1557Lys)
c.4114G>A (p.Glu1372Lys)
c.4480G>A (p.Glu1494Lys)
c.4216+13890G>A (n.4216+13890G>A)
c.4588G>A (p.Glu1530Lys)
c.4561G>A (p.Glu1521Lys)
c.*2G>A (n.*2G>A)
c.2995G>A (p.Glu999Lys)
n.4979G>A
n.4526+13890G>A
c.4552G>A (p.Glu1518Lys)
n.4995G>A
n.4741G>A
n.4542+13890G>A
 COSMIC
2g.227008159T>ACA351140727COL4A4c.270A>T (p.Glu90Asp)
c.4668A>T (p.Glu1556Asp)
c.4113A>T (p.Glu1371Asp)
c.4479A>T (p.Glu1493Asp)
c.4216+13889A>T (n.4216+13889A>T)
c.4587A>T (p.Glu1529Asp)
c.4560A>T (p.Glu1520Asp)
c.*1A>T (n.*1A>T)
c.2994A>T (p.Glu998Asp)
n.4978A>T
n.4526+13889A>T
c.4551A>T (p.Glu1517Asp)
n.4994A>T
n.4740A>T
n.4542+13889A>T
2g.227008159T>CCA2144101COL4A4c.270A>G (p.Glu90=)
c.4668A>G (p.Glu1556=)
c.4113A>G (p.Glu1371=)
c.4479A>G (p.Glu1493=)
c.4216+13889A>G (n.4216+13889A>G)
c.4587A>G (p.Glu1529=)
c.4560A>G (p.Glu1520=)
c.*1A>G (n.*1A>G)
c.2994A>G (p.Glu998=)
n.4978A>G
n.4526+13889A>G
c.4551A>G (p.Glu1517=)
n.4994A>G
n.4740A>G
n.4542+13889A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008159T>GCA351140728COL4A4c.270A>C (p.Glu90Asp)
c.4668A>C (p.Glu1556Asp)
c.4113A>C (p.Glu1371Asp)
c.4479A>C (p.Glu1493Asp)
c.4216+13889A>C (n.4216+13889A>C)
c.4587A>C (p.Glu1529Asp)
c.4560A>C (p.Glu1520Asp)
c.*1A>C (n.*1A>C)
c.2994A>C (p.Glu998Asp)
n.4978A>C
n.4526+13889A>C
c.4551A>C (p.Glu1517Asp)
n.4994A>C
n.4740A>C
n.4542+13889A>C
2g.227008159T=CA1332723938COL4A4c.270A= (p.Glu90=)
c.4668A= (p.Glu1556=)
c.4113A= (p.Glu1371=)
c.4479A= (p.Glu1493=)
c.4216+13889A= (n.4216+13889A=)
c.4587A= (p.Glu1529=)
c.4560A= (p.Glu1520=)
c.*1A= (n.*1A=)
c.2994A= (p.Glu998=)
n.4978A=
n.4526+13889A=
c.4551A= (p.Glu1517=)
n.4994A=
n.4740A=
n.4542+13889A=
2g.227008160T>ACA351140729COL4A4c.269A>T (p.Glu90Val)
c.4667A>T (p.Glu1556Val)
c.4112A>T (p.Glu1371Val)
c.4478A>T (p.Glu1493Val)
c.4216+13888A>T (n.4216+13888A>T)
c.4586A>T (p.Glu1529Val)
c.4559A>T (p.Glu1520Val)
c.4413A>T (p.Ter1471Cys)
c.4296A>T (p.Ter1432Cys)
c.2993A>T (p.Glu998Val)
n.4977A>T
n.4526+13888A>T
c.4550A>T (p.Glu1517Val)
n.4993A>T
n.4739A>T
n.4542+13888A>T
2g.227008160T>CCA351140730COL4A4c.269A>G (p.Glu90Gly)
c.4667A>G (p.Glu1556Gly)
c.4112A>G (p.Glu1371Gly)
c.4478A>G (p.Glu1493Gly)
c.4216+13888A>G (n.4216+13888A>G)
c.4586A>G (p.Glu1529Gly)
c.4559A>G (p.Glu1520Gly)
c.4413A>G (p.Ter1471Trp)
c.4296A>G (p.Ter1432Trp)
c.2993A>G (p.Glu998Gly)
n.4977A>G
n.4526+13888A>G
c.4550A>G (p.Glu1517Gly)
n.4993A>G
n.4739A>G
n.4542+13888A>G
2g.227008160T>GCA351140731COL4A4c.269A>C (p.Glu90Ala)
c.4667A>C (p.Glu1556Ala)
c.4112A>C (p.Glu1371Ala)
c.4478A>C (p.Glu1493Ala)
c.4216+13888A>C (n.4216+13888A>C)
c.4586A>C (p.Glu1529Ala)
c.4559A>C (p.Glu1520Ala)
c.4413A>C (p.Ter1471Cys)
c.4296A>C (p.Ter1432Cys)
c.2993A>C (p.Glu998Ala)
n.4977A>C
n.4526+13888A>C
c.4550A>C (p.Glu1517Ala)
n.4993A>C
n.4739A>C
n.4542+13888A>C
2g.227008161C>ACA351140732COL4A4c.268G>T (p.Glu90Ter)
c.4666G>T (p.Glu1556Ter)
c.4111G>T (p.Glu1371Ter)
c.4477G>T (p.Glu1493Ter)
c.4216+13887G>T (n.4216+13887G>T)
c.4585G>T (p.Glu1529Ter)
c.4558G>T (p.Glu1520Ter)
c.4412G>T (p.Ter1471Leu)
c.4295G>T (p.Ter1432Leu)
c.2992G>T (p.Glu998Ter)
n.4976G>T
n.4526+13887G>T
c.4549G>T (p.Glu1517Ter)
n.4992G>T
n.4738G>T
n.4542+13887G>T
2g.227008161C>GCA351140734COL4A4c.268G>C (p.Glu90Gln)
c.4666G>C (p.Glu1556Gln)
c.4111G>C (p.Glu1371Gln)
c.4477G>C (p.Glu1493Gln)
c.4216+13887G>C (n.4216+13887G>C)
c.4585G>C (p.Glu1529Gln)
c.4558G>C (p.Glu1520Gln)
c.4412G>C (p.Ter1471Ser)
c.4295G>C (p.Ter1432Ser)
c.2992G>C (p.Glu998Gln)
n.4976G>C
n.4526+13887G>C
c.4549G>C (p.Glu1517Gln)
n.4992G>C
n.4738G>C
n.4542+13887G>C
 gnomAD v4
2g.227008161C>TCA351140733COL4A4c.268G>A (p.Glu90Lys)
c.4666G>A (p.Glu1556Lys)
c.4111G>A (p.Glu1371Lys)
c.4477G>A (p.Glu1493Lys)
c.4216+13887G>A (n.4216+13887G>A)
c.4585G>A (p.Glu1529Lys)
c.4558G>A (p.Glu1520Lys)
c.4412G>A (p.Ter1471=)
c.4295G>A (p.Ter1432=)
c.2992G>A (p.Glu998Lys)
n.4976G>A
n.4526+13887G>A
c.4549G>A (p.Glu1517Lys)
n.4992G>A
n.4738G>A
n.4542+13887G>A
2g.227008161_227008163delinsCAGCA1332723939COL4A4c.266_268delinsCTG (p.Ser89=)
c.4664_4666delinsCTG (p.Ser1555=)
c.4109_4111delinsCTG (p.Ser1370=)
c.4475_4477delinsCTG (p.Ser1492=)
c.4216+13885_4216+13887delinsCTG (n.4216+13885_4216+13887delinsCTG)
c.4583_4585delinsCTG (p.Ser1528=)
c.4556_4558delinsCTG (p.Ser1519=)
c.4410_4412delinsCTG (p.Leu1470=)
c.4293_4295delinsCTG (p.Leu1431=)
c.2990_2992delinsCTG (p.Ser997=)
n.4974_4976delinsCTG
n.4526+13885_4526+13887delinsCTG
c.4547_4549delinsCTG (p.Ser1516=)
n.4990_4992delinsCTG
n.4736_4738delinsCTG
n.4542+13885_4542+13887delinsCTG
2g.227008162A>CCA431671905COL4A4c.267T>G (p.Ser89=)
c.4665T>G (p.Ser1555=)
c.4110T>G (p.Ser1370=)
c.4476T>G (p.Ser1492=)
c.4216+13886T>G (n.4216+13886T>G)
c.4584T>G (p.Ser1528=)
c.4557T>G (p.Ser1519=)
c.4411T>G (p.Ter1471Gly)
c.4294T>G (p.Ter1432Gly)
c.2991T>G (p.Ser997=)
n.4975T>G
n.4526+13886T>G
c.4548T>G (p.Ser1516=)
n.4991T>G
n.4737T>G
n.4542+13886T>G
2g.227008162A>GCA431671906COL4A4c.267T>C (p.Ser89=)
c.4665T>C (p.Ser1555=)
c.4110T>C (p.Ser1370=)
c.4476T>C (p.Ser1492=)
c.4216+13886T>C (n.4216+13886T>C)
c.4584T>C (p.Ser1528=)
c.4557T>C (p.Ser1519=)
c.4411T>C (p.Ter1471Arg)
c.4294T>C (p.Ter1432Arg)
c.2991T>C (p.Ser997=)
n.4975T>C
n.4526+13886T>C
c.4548T>C (p.Ser1516=)
n.4991T>C
n.4737T>C
n.4542+13886T>C
2g.227008162A>TCA431671907COL4A4c.267T>A (p.Ser89=)
c.4665T>A (p.Ser1555=)
c.4110T>A (p.Ser1370=)
c.4476T>A (p.Ser1492=)
c.4216+13886T>A (n.4216+13886T>A)
c.4584T>A (p.Ser1528=)
c.4557T>A (p.Ser1519=)
c.4411T>A (p.Ter1471Arg)
c.4294T>A (p.Ter1432Arg)
c.2991T>A (p.Ser997=)
n.4975T>A
n.4526+13886T>A
c.4548T>A (p.Ser1516=)
n.4991T>A
n.4737T>A
n.4542+13886T>A
2g.227008166_227008167delCA2144102COL4A4c.266_267del (p.Ser89Ter)
c.4664_4665del (p.Ser1555Ter)
c.4109_4110del (p.Ser1370Ter)
c.4475_4476del (p.Ser1492Ter)
c.4216+13885_4216+13886del (n.4216+13885_4216+13886del)
c.4583_4584del (p.Ser1528Ter)
c.4556_4557del (p.Ser1519Ter)
c.4410_4411del (p.Ter1471LysextTer?)
c.4293_4294del (p.Ter1432LysextTer?)
c.2990_2991del (p.Ser997Ter)
n.4974_4975del
n.4526+13885_4526+13886del
c.4547_4548del (p.Ser1516Ter)
n.4990_4991del
n.4736_4737del
n.4542+13885_4542+13886del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008163G>ACA351140735COL4A4c.266C>T (p.Ser89Phe)
c.4664C>T (p.Ser1555Phe)
c.4109C>T (p.Ser1370Phe)
c.4475C>T (p.Ser1492Phe)
c.4216+13885C>T (n.4216+13885C>T)
c.4583C>T (p.Ser1528Phe)
c.4556C>T (p.Ser1519Phe)
c.4410C>T (p.Leu1470=)
c.4293C>T (p.Leu1431=)
c.2990C>T (p.Ser997Phe)
n.4974C>T
n.4526+13885C>T
c.4547C>T (p.Ser1516Phe)
n.4990C>T
n.4736C>T
n.4542+13885C>T
 ClinVar dbSNP
2g.227008163G>CCA351140736COL4A4c.266C>G (p.Ser89Cys)
c.4664C>G (p.Ser1555Cys)
c.4109C>G (p.Ser1370Cys)
c.4475C>G (p.Ser1492Cys)
c.4216+13885C>G (n.4216+13885C>G)
c.4583C>G (p.Ser1528Cys)
c.4556C>G (p.Ser1519Cys)
c.4410C>G (p.Leu1470=)
c.4293C>G (p.Leu1431=)
c.2990C>G (p.Ser997Cys)
n.4974C>G
n.4526+13885C>G
c.4547C>G (p.Ser1516Cys)
n.4990C>G
n.4736C>G
n.4542+13885C>G
2g.227008163G>TCA351140737COL4A4c.266C>A (p.Ser89Tyr)
c.4664C>A (p.Ser1555Tyr)
c.4109C>A (p.Ser1370Tyr)
c.4475C>A (p.Ser1492Tyr)
c.4216+13885C>A (n.4216+13885C>A)
c.4583C>A (p.Ser1528Tyr)
c.4556C>A (p.Ser1519Tyr)
c.4410C>A (p.Leu1470=)
c.4293C>A (p.Leu1431=)
c.2990C>A (p.Ser997Tyr)
n.4974C>A
n.4526+13885C>A
c.4547C>A (p.Ser1516Tyr)
n.4990C>A
n.4736C>A
n.4542+13885C>A
2g.227008164A>CCA351140738COL4A4c.265T>G (p.Ser89Ala)
c.4663T>G (p.Ser1555Ala)
c.4108T>G (p.Ser1370Ala)
c.4474T>G (p.Ser1492Ala)
c.4216+13884T>G (n.4216+13884T>G)
c.4582T>G (p.Ser1528Ala)
c.4555T>G (p.Ser1519Ala)
c.4409T>G (p.Leu1470Arg)
c.4292T>G (p.Leu1431Arg)
c.2989T>G (p.Ser997Ala)
n.4973T>G
n.4526+13884T>G
c.4546T>G (p.Ser1516Ala)
n.4989T>G
n.4735T>G
n.4542+13884T>G
2g.227008164A>GCA351140739COL4A4c.265T>C (p.Ser89Pro)
c.4663T>C (p.Ser1555Pro)
c.4108T>C (p.Ser1370Pro)
c.4474T>C (p.Ser1492Pro)
c.4216+13884T>C (n.4216+13884T>C)
c.4582T>C (p.Ser1528Pro)
c.4555T>C (p.Ser1519Pro)
c.4409T>C (p.Leu1470Pro)
c.4292T>C (p.Leu1431Pro)
c.2989T>C (p.Ser997Pro)
n.4973T>C
n.4526+13884T>C
c.4546T>C (p.Ser1516Pro)
n.4989T>C
n.4735T>C
n.4542+13884T>C
 gnomAD v4
2g.227008164A>TCA351140740COL4A4c.265T>A (p.Ser89Thr)
c.4663T>A (p.Ser1555Thr)
c.4108T>A (p.Ser1370Thr)
c.4474T>A (p.Ser1492Thr)
c.4216+13884T>A (n.4216+13884T>A)
c.4582T>A (p.Ser1528Thr)
c.4555T>A (p.Ser1519Thr)
c.4409T>A (p.Leu1470His)
c.4292T>A (p.Leu1431His)
c.2989T>A (p.Ser997Thr)
n.4973T>A
n.4526+13884T>A
c.4546T>A (p.Ser1516Thr)
n.4989T>A
n.4735T>A
n.4542+13884T>A
2g.227008165G>ACA431671910COL4A4c.264C>T (p.Leu88=)
c.4662C>T (p.Leu1554=)
c.4107C>T (p.Leu1369=)
c.4473C>T (p.Leu1491=)
c.4216+13883C>T (n.4216+13883C>T)
c.4581C>T (p.Leu1527=)
c.4554C>T (p.Leu1518=)
c.4408C>T (p.Leu1470Phe)
c.4291C>T (p.Leu1431Phe)
c.2988C>T (p.Leu996=)
n.4972C>T
n.4526+13883C>T
c.4545C>T (p.Leu1515=)
n.4988C>T
n.4734C>T
n.4542+13883C>T
2g.227008165G>CCA431671911COL4A4c.264C>G (p.Leu88=)
c.4662C>G (p.Leu1554=)
c.4107C>G (p.Leu1369=)
c.4473C>G (p.Leu1491=)
c.4216+13883C>G (n.4216+13883C>G)
c.4581C>G (p.Leu1527=)
c.4554C>G (p.Leu1518=)
c.4408C>G (p.Leu1470Val)
c.4291C>G (p.Leu1431Val)
c.2988C>G (p.Leu996=)
n.4972C>G
n.4526+13883C>G
c.4545C>G (p.Leu1515=)
n.4988C>G
n.4734C>G
n.4542+13883C>G
2g.227008165G>TCA431671912COL4A4c.264C>A (p.Leu88=)
c.4662C>A (p.Leu1554=)
c.4107C>A (p.Leu1369=)
c.4473C>A (p.Leu1491=)
c.4216+13883C>A (n.4216+13883C>A)
c.4581C>A (p.Leu1527=)
c.4554C>A (p.Leu1518=)
c.4408C>A (p.Leu1470Ile)
c.4291C>A (p.Leu1431Ile)
c.2988C>A (p.Leu996=)
n.4972C>A
n.4526+13883C>A
c.4545C>A (p.Leu1515=)
n.4988C>A
n.4734C>A
n.4542+13883C>A
 gnomAD v4
2g.227008166A>CCA351140741COL4A4c.263T>G (p.Leu88Arg)
c.4661T>G (p.Leu1554Arg)
c.4106T>G (p.Leu1369Arg)
c.4472T>G (p.Leu1491Arg)
c.4216+13882T>G (n.4216+13882T>G)
c.4580T>G (p.Leu1527Arg)
c.4553T>G (p.Leu1518Arg)
c.4407T>G (p.Thr1469=)
c.4290T>G (p.Thr1430=)
c.2987T>G (p.Leu996Arg)
n.4971T>G
n.4526+13882T>G
c.4544T>G (p.Leu1515Arg)
n.4987T>G
n.4733T>G
n.4542+13882T>G
2g.227008166A>GCA351140742COL4A4c.263T>C (p.Leu88Pro)
c.4661T>C (p.Leu1554Pro)
c.4106T>C (p.Leu1369Pro)
c.4472T>C (p.Leu1491Pro)
c.4216+13882T>C (n.4216+13882T>C)
c.4580T>C (p.Leu1527Pro)
c.4553T>C (p.Leu1518Pro)
c.4407T>C (p.Thr1469=)
c.4290T>C (p.Thr1430=)
c.2987T>C (p.Leu996Pro)
n.4971T>C
n.4526+13882T>C
c.4544T>C (p.Leu1515Pro)
n.4987T>C
n.4733T>C
n.4542+13882T>C
 gnomAD v4
2g.227008166A>TCA351140743COL4A4c.263T>A (p.Leu88His)
c.4661T>A (p.Leu1554His)
c.4106T>A (p.Leu1369His)
c.4472T>A (p.Leu1491His)
c.4216+13882T>A (n.4216+13882T>A)
c.4580T>A (p.Leu1527His)
c.4553T>A (p.Leu1518His)
c.4407T>A (p.Thr1469=)
c.4290T>A (p.Thr1430=)
c.2987T>A (p.Leu996His)
n.4971T>A
n.4526+13882T>A
c.4544T>A (p.Leu1515His)
n.4987T>A
n.4733T>A
n.4542+13882T>A
2g.227008167G>ACA351140744COL4A4c.262C>T (p.Leu88Phe)
c.4660C>T (p.Leu1554Phe)
c.4105C>T (p.Leu1369Phe)
c.4471C>T (p.Leu1491Phe)
c.4216+13881C>T (n.4216+13881C>T)
c.4579C>T (p.Leu1527Phe)
c.4552C>T (p.Leu1518Phe)
c.4406C>T (p.Thr1469Ile)
c.4289C>T (p.Thr1430Ile)
c.2986C>T (p.Leu996Phe)
n.4970C>T
n.4526+13881C>T
c.4543C>T (p.Leu1515Phe)
n.4986C>T
n.4732C>T
n.4542+13881C>T
 ClinVar dbSNP
2g.227008167G>CCA351140745COL4A4c.262C>G (p.Leu88Val)
c.4660C>G (p.Leu1554Val)
c.4105C>G (p.Leu1369Val)
c.4471C>G (p.Leu1491Val)
c.4216+13881C>G (n.4216+13881C>G)
c.4579C>G (p.Leu1527Val)
c.4552C>G (p.Leu1518Val)
c.4406C>G (p.Thr1469Ser)
c.4289C>G (p.Thr1430Ser)
c.2986C>G (p.Leu996Val)
n.4970C>G
n.4526+13881C>G
c.4543C>G (p.Leu1515Val)
n.4986C>G
n.4732C>G
n.4542+13881C>G
2g.227008167G=CA1332723940COL4A4c.262C= (p.Leu88=)
c.4660C= (p.Leu1554=)
c.4105C= (p.Leu1369=)
c.4471C= (p.Leu1491=)
c.4216+13881C= (n.4216+13881C=)
c.4579C= (p.Leu1527=)
c.4552C= (p.Leu1518=)
c.4406C= (p.Thr1469=)
c.4289C= (p.Thr1430=)
c.2986C= (p.Leu996=)
n.4970C=
n.4526+13881C=
c.4543C= (p.Leu1515=)
n.4986C=
n.4732C=
n.4542+13881C=
2g.227008167G>TCA351140746COL4A4c.262C>A (p.Leu88Ile)
c.4660C>A (p.Leu1554Ile)
c.4105C>A (p.Leu1369Ile)
c.4471C>A (p.Leu1491Ile)
c.4216+13881C>A (n.4216+13881C>A)
c.4579C>A (p.Leu1527Ile)
c.4552C>A (p.Leu1518Ile)
c.4406C>A (p.Thr1469Asn)
c.4289C>A (p.Thr1430Asn)
c.2986C>A (p.Leu996Ile)
n.4970C>A
n.4526+13881C>A
c.4543C>A (p.Leu1515Ile)
n.4986C>A
n.4732C>A
n.4542+13881C>A
2g.227008168T>ACA431671914COL4A4c.261A>T (p.Pro87=)
c.4659A>T (p.Pro1553=)
c.4104A>T (p.Pro1368=)
c.4470A>T (p.Pro1490=)
c.4216+13880A>T (n.4216+13880A>T)
c.4578A>T (p.Pro1526=)
c.4551A>T (p.Pro1517=)
c.4405A>T (p.Thr1469Ser)
c.4288A>T (p.Thr1430Ser)
c.2985A>T (p.Pro995=)
n.4969A>T
n.4526+13880A>T
c.4542A>T (p.Pro1514=)
n.4985A>T
n.4731A>T
n.4542+13880A>T
2g.227008168T>CCA431671915COL4A4c.261A>G (p.Pro87=)
c.4659A>G (p.Pro1553=)
c.4104A>G (p.Pro1368=)
c.4470A>G (p.Pro1490=)
c.4216+13880A>G (n.4216+13880A>G)
c.4578A>G (p.Pro1526=)
c.4551A>G (p.Pro1517=)
c.4405A>G (p.Thr1469Ala)
c.4288A>G (p.Thr1430Ala)
c.2985A>G (p.Pro995=)
n.4969A>G
n.4526+13880A>G
c.4542A>G (p.Pro1514=)
n.4985A>G
n.4731A>G
n.4542+13880A>G
2g.227008168T>GCA431671916COL4A4c.261A>C (p.Pro87=)
c.4659A>C (p.Pro1553=)
c.4104A>C (p.Pro1368=)
c.4470A>C (p.Pro1490=)
c.4216+13880A>C (n.4216+13880A>C)
c.4578A>C (p.Pro1526=)
c.4551A>C (p.Pro1517=)
c.4405A>C (p.Thr1469Pro)
c.4288A>C (p.Thr1430Pro)
c.2985A>C (p.Pro995=)
n.4969A>C
n.4526+13880A>C
c.4542A>C (p.Pro1514=)
n.4985A>C
n.4731A>C
n.4542+13880A>C
2g.227008169G>ACA351140747COL4A4c.260C>T (p.Pro87Leu)
c.4658C>T (p.Pro1553Leu)
c.4103C>T (p.Pro1368Leu)
c.4469C>T (p.Pro1490Leu)
c.4216+13879C>T (n.4216+13879C>T)
c.4577C>T (p.Pro1526Leu)
c.4550C>T (p.Pro1517Leu)
c.4404C>T (p.Ala1468=)
c.4287C>T (p.Ala1429=)
c.2984C>T (p.Pro995Leu)
n.4968C>T
n.4526+13879C>T
c.4541C>T (p.Pro1514Leu)
n.4984C>T
n.4730C>T
n.4542+13879C>T
2g.227008169G>CCA351140749COL4A4c.260C>G (p.Pro87Arg)
c.4658C>G (p.Pro1553Arg)
c.4103C>G (p.Pro1368Arg)
c.4469C>G (p.Pro1490Arg)
c.4216+13879C>G (n.4216+13879C>G)
c.4577C>G (p.Pro1526Arg)
c.4550C>G (p.Pro1517Arg)
c.4404C>G (p.Ala1468=)
c.4287C>G (p.Ala1429=)
c.2984C>G (p.Pro995Arg)
n.4968C>G
n.4526+13879C>G
c.4541C>G (p.Pro1514Arg)
n.4984C>G
n.4730C>G
n.4542+13879C>G
2g.227008169G>TCA351140748COL4A4c.260C>A (p.Pro87Gln)
c.4658C>A (p.Pro1553Gln)
c.4103C>A (p.Pro1368Gln)
c.4469C>A (p.Pro1490Gln)
c.4216+13879C>A (n.4216+13879C>A)
c.4577C>A (p.Pro1526Gln)
c.4550C>A (p.Pro1517Gln)
c.4404C>A (p.Ala1468=)
c.4287C>A (p.Ala1429=)
c.2984C>A (p.Pro995Gln)
n.4968C>A
n.4526+13879C>A
c.4541C>A (p.Pro1514Gln)
n.4984C>A
n.4730C>A
n.4542+13879C>A
2g.227008170G>ACA351140750COL4A4c.259C>T (p.Pro87Ser)
c.4657C>T (p.Pro1553Ser)
c.4102C>T (p.Pro1368Ser)
c.4468C>T (p.Pro1490Ser)
c.4216+13878C>T (n.4216+13878C>T)
c.4576C>T (p.Pro1526Ser)
c.4549C>T (p.Pro1517Ser)
c.4403C>T (p.Ala1468Val)
c.4286C>T (p.Ala1429Val)
c.2983C>T (p.Pro995Ser)
n.4967C>T
n.4526+13878C>T
c.4540C>T (p.Pro1514Ser)
n.4983C>T
n.4729C>T
n.4542+13878C>T
2g.227008170G>CCA351140751COL4A4c.259C>G (p.Pro87Ala)
c.4657C>G (p.Pro1553Ala)
c.4102C>G (p.Pro1368Ala)
c.4468C>G (p.Pro1490Ala)
c.4216+13878C>G (n.4216+13878C>G)
c.4576C>G (p.Pro1526Ala)
c.4549C>G (p.Pro1517Ala)
c.4403C>G (p.Ala1468Gly)
c.4286C>G (p.Ala1429Gly)
c.2983C>G (p.Pro995Ala)
n.4967C>G
n.4526+13878C>G
c.4540C>G (p.Pro1514Ala)
n.4983C>G
n.4729C>G
n.4542+13878C>G
2g.227008170G>TCA351140752COL4A4c.259C>A (p.Pro87Thr)
c.4657C>A (p.Pro1553Thr)
c.4102C>A (p.Pro1368Thr)
c.4468C>A (p.Pro1490Thr)
c.4216+13878C>A (n.4216+13878C>A)
c.4576C>A (p.Pro1526Thr)
c.4549C>A (p.Pro1517Thr)
c.4403C>A (p.Ala1468Asp)
c.4286C>A (p.Ala1429Asp)
c.2983C>A (p.Pro995Thr)
n.4967C>A
n.4526+13878C>A
c.4540C>A (p.Pro1514Thr)
n.4983C>A
n.4729C>A
n.4542+13878C>A
2g.227008170_227008172delinsGCACA1332723941COL4A4c.257_259delinsTGC (p.Met86=)
c.4655_4657delinsTGC (p.Met1552=)
c.4100_4102delinsTGC (p.Met1367=)
c.4466_4468delinsTGC (p.Met1489=)
c.4216+13876_4216+13878delinsTGC (n.4216+13876_4216+13878delinsTGC)
c.4574_4576delinsTGC (p.Met1525=)
c.4547_4549delinsTGC (p.Met1516=)
c.4401_4403delinsTGC (p.Asp1467=)
c.4284_4286delinsTGC (p.Asp1428=)
c.2981_2983delinsTGC (p.Met994=)
n.4965_4967delinsTGC
n.4526+13876_4526+13878delinsTGC
c.4538_4540delinsTGC (p.Met1513=)
n.4981_4983delinsTGC
n.4727_4729delinsTGC
n.4542+13876_4542+13878delinsTGC
2g.227008171C>ACA351140753COL4A4c.258G>T (p.Met86Ile)
c.4656G>T (p.Met1552Ile)
c.4101G>T (p.Met1367Ile)
c.4467G>T (p.Met1489Ile)
c.4216+13877G>T (n.4216+13877G>T)
c.4575G>T (p.Met1525Ile)
c.4548G>T (p.Met1516Ile)
c.4402G>T (p.Ala1468Ser)
c.4285G>T (p.Ala1429Ser)
c.2982G>T (p.Met994Ile)
n.4966G>T
n.4526+13877G>T
c.4539G>T (p.Met1513Ile)
n.4982G>T
n.4728G>T
n.4542+13877G>T
2g.227008171C=CA1332723942COL4A4c.258G= (p.Met86=)
c.4656G= (p.Met1552=)
c.4101G= (p.Met1367=)
c.4467G= (p.Met1489=)
c.4216+13877G= (n.4216+13877G=)
c.4575G= (p.Met1525=)
c.4548G= (p.Met1516=)
c.4402G= (p.Ala1468=)
c.4285G= (p.Ala1429=)
c.2982G= (p.Met994=)
n.4966G=
n.4526+13877G=
c.4539G= (p.Met1513=)
n.4982G=
n.4728G=
n.4542+13877G=
2g.227008171C>GCA351140754COL4A4c.258G>C (p.Met86Ile)
c.4656G>C (p.Met1552Ile)
c.4101G>C (p.Met1367Ile)
c.4467G>C (p.Met1489Ile)
c.4216+13877G>C (n.4216+13877G>C)
c.4575G>C (p.Met1525Ile)
c.4548G>C (p.Met1516Ile)
c.4402G>C (p.Ala1468Pro)
c.4285G>C (p.Ala1429Pro)
c.2982G>C (p.Met994Ile)
n.4966G>C
n.4526+13877G>C
c.4539G>C (p.Met1513Ile)
n.4982G>C
n.4728G>C
n.4542+13877G>C
2g.227008171C>TCA2144104COL4A4c.258G>A (p.Met86Ile)
c.4656G>A (p.Met1552Ile)
c.4101G>A (p.Met1367Ile)
c.4467G>A (p.Met1489Ile)
c.4216+13877G>A (n.4216+13877G>A)
c.4575G>A (p.Met1525Ile)
c.4548G>A (p.Met1516Ile)
c.4402G>A (p.Ala1468Thr)
c.4285G>A (p.Ala1429Thr)
c.2982G>A (p.Met994Ile)
n.4966G>A
n.4526+13877G>A
c.4539G>A (p.Met1513Ile)
n.4982G>A
n.4728G>A
n.4542+13877G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008171_227008172delCA2144103COL4A4c.257_258del (p.Met86ThrfsTer4)
c.4655_4656del (p.Met1552ThrfsTer4)
c.4100_4101del (p.Met1367ThrfsTer4)
c.4466_4467del (p.Met1489ThrfsTer4)
c.4216+13876_4216+13877del (n.4216+13876_4216+13877del)
c.4574_4575del (p.Met1525ThrfsTer4)
c.4547_4548del (p.Met1516ThrfsTer4)
c.4401_4402del (p.Ala1468HisfsTer?)
c.4284_4285del (p.Ala1429HisfsTer?)
c.2981_2982del (p.Met994ThrfsTer4)
n.4965_4966del
n.4526+13876_4526+13877del
c.4538_4539del (p.Met1513ThrfsTer4)
n.4981_4982del
n.4727_4728del
n.4542+13876_4542+13877del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008174_227008176delCA2663402693COL4A4c.256_258del (p.Met86del)
c.4654_4656del (p.Met1552del)
c.4099_4101del (p.Met1367del)
c.4465_4467del (p.Met1489del)
c.4216+13875_4216+13877del (n.4216+13875_4216+13877del)
c.4573_4575del (p.Met1525del)
c.4546_4548del (p.Met1516del)
c.4400_4402del (p.Asp1467del)
c.4283_4285del (p.Asp1428del)
c.2980_2982del (p.Met994del)
n.4964_4966del
n.4526+13875_4526+13877del
c.4537_4539del (p.Met1513del)
n.4980_4982del
n.4726_4728del
n.4542+13875_4542+13877del
 gnomAD v4
2g.227008172A>CCA351140755COL4A4c.257T>G (p.Met86Arg)
c.4655T>G (p.Met1552Arg)
c.4100T>G (p.Met1367Arg)
c.4466T>G (p.Met1489Arg)
c.4216+13876T>G (n.4216+13876T>G)
c.4574T>G (p.Met1525Arg)
c.4547T>G (p.Met1516Arg)
c.4401T>G (p.Asp1467Glu)
c.4284T>G (p.Asp1428Glu)
c.2981T>G (p.Met994Arg)
n.4965T>G
n.4526+13876T>G
c.4538T>G (p.Met1513Arg)
n.4981T>G
n.4727T>G
n.4542+13876T>G
2g.227008172A>GCA351140756COL4A4c.257T>C (p.Met86Thr)
c.4655T>C (p.Met1552Thr)
c.4100T>C (p.Met1367Thr)
c.4466T>C (p.Met1489Thr)
c.4216+13876T>C (n.4216+13876T>C)
c.4574T>C (p.Met1525Thr)
c.4547T>C (p.Met1516Thr)
c.4401T>C (p.Asp1467=)
c.4284T>C (p.Asp1428=)
c.2981T>C (p.Met994Thr)
n.4965T>C
n.4526+13876T>C
c.4538T>C (p.Met1513Thr)
n.4981T>C
n.4727T>C
n.4542+13876T>C
2g.227008172A>TCA351140757COL4A4c.257T>A (p.Met86Lys)
c.4655T>A (p.Met1552Lys)
c.4100T>A (p.Met1367Lys)
c.4466T>A (p.Met1489Lys)
c.4216+13876T>A (n.4216+13876T>A)
c.4574T>A (p.Met1525Lys)
c.4547T>A (p.Met1516Lys)
c.4401T>A (p.Asp1467Glu)
c.4284T>A (p.Asp1428Glu)
c.2981T>A (p.Met994Lys)
n.4965T>A
n.4526+13876T>A
c.4538T>A (p.Met1513Lys)
n.4981T>A
n.4727T>A
n.4542+13876T>A
2g.227008173T>ACA351140759COL4A4c.256A>T (p.Met86Leu)
c.4654A>T (p.Met1552Leu)
c.4099A>T (p.Met1367Leu)
c.4465A>T (p.Met1489Leu)
c.4216+13875A>T (n.4216+13875A>T)
c.4573A>T (p.Met1525Leu)
c.4546A>T (p.Met1516Leu)
c.4400A>T (p.Asp1467Val)
c.4283A>T (p.Asp1428Val)
c.2980A>T (p.Met994Leu)
n.4964A>T
n.4526+13875A>T
c.4537A>T (p.Met1513Leu)
n.4980A>T
n.4726A>T
n.4542+13875A>T
2g.227008173T>CCA351140760COL4A4c.256A>G (p.Met86Val)
c.4654A>G (p.Met1552Val)
c.4099A>G (p.Met1367Val)
c.4465A>G (p.Met1489Val)
c.4216+13875A>G (n.4216+13875A>G)
c.4573A>G (p.Met1525Val)
c.4546A>G (p.Met1516Val)
c.4400A>G (p.Asp1467Gly)
c.4283A>G (p.Asp1428Gly)
c.2980A>G (p.Met994Val)
n.4964A>G
n.4526+13875A>G
c.4537A>G (p.Met1513Val)
n.4980A>G
n.4726A>G
n.4542+13875A>G
2g.227008173T>GCA351140758COL4A4c.256A>C (p.Met86Leu)
c.4654A>C (p.Met1552Leu)
c.4099A>C (p.Met1367Leu)
c.4465A>C (p.Met1489Leu)
c.4216+13875A>C (n.4216+13875A>C)
c.4573A>C (p.Met1525Leu)
c.4546A>C (p.Met1516Leu)
c.4400A>C (p.Asp1467Ala)
c.4283A>C (p.Asp1428Ala)
c.2980A>C (p.Met994Leu)
n.4964A>C
n.4526+13875A>C
c.4537A>C (p.Met1513Leu)
n.4980A>C
n.4726A>C
n.4542+13875A>C
2g.227008173T=CA1332723943COL4A4c.256A= (p.Met86=)
c.4654A= (p.Met1552=)
c.4099A= (p.Met1367=)
c.4465A= (p.Met1489=)
c.4216+13875A= (n.4216+13875A=)
c.4573A= (p.Met1525=)
c.4546A= (p.Met1516=)
c.4400A= (p.Asp1467=)
c.4283A= (p.Asp1428=)
c.2980A= (p.Met994=)
n.4964A=
n.4526+13875A=
c.4537A= (p.Met1513=)
n.4980A=
n.4726A=
n.4542+13875A=
2g.227008173_227008174insGGCA2144105COL4A4c.255_256insCC (p.Met86ProfsTer?)
c.4653_4654insCC (p.Met1552ProfsTer?)
c.4098_4099insCC (p.Met1367ProfsTer?)
c.4464_4465insCC (p.Met1489ProfsTer?)
c.4216+13874_4216+13875insCC (n.4216+13874_4216+13875insCC)
c.4572_4573insCC (p.Met1525ProfsTer?)
c.4545_4546insCC (p.Met1516ProfsTer?)
c.4399_4400insCC (p.Asp1467AlafsTer?)
c.4282_4283insCC (p.Asp1428AlafsTer?)
c.2979_2980insCC (p.Met994ProfsTer?)
n.4963_4964insCC
n.4526+13874_4526+13875insCC
c.4536_4537insCC (p.Met1513ProfsTer?)
n.4979_4980insCC
n.4725_4726insCC
n.4542+13874_4542+13875insCC
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008174C>ACA351140761COL4A4c.255G>T (p.Met85Ile)
c.4653G>T (p.Met1551Ile)
c.4098G>T (p.Met1366Ile)
c.4464G>T (p.Met1488Ile)
c.4216+13874G>T (n.4216+13874G>T)
c.4572G>T (p.Met1524Ile)
c.4545G>T (p.Met1515Ile)
c.4399G>T (p.Asp1467Tyr)
c.4282G>T (p.Asp1428Tyr)
c.2979G>T (p.Met993Ile)
n.4963G>T
n.4526+13874G>T
c.4536G>T (p.Met1512Ile)
n.4979G>T
n.4725G>T
n.4542+13874G>T
2g.227008174C>GCA351140762COL4A4c.255G>C (p.Met85Ile)
c.4653G>C (p.Met1551Ile)
c.4098G>C (p.Met1366Ile)
c.4464G>C (p.Met1488Ile)
c.4216+13874G>C (n.4216+13874G>C)
c.4572G>C (p.Met1524Ile)
c.4545G>C (p.Met1515Ile)
c.4399G>C (p.Asp1467His)
c.4282G>C (p.Asp1428His)
c.2979G>C (p.Met993Ile)
n.4963G>C
n.4526+13874G>C
c.4536G>C (p.Met1512Ile)
n.4979G>C
n.4725G>C
n.4542+13874G>C
2g.227008174C>TCA351140763COL4A4c.255G>A (p.Met85Ile)
c.4653G>A (p.Met1551Ile)
c.4098G>A (p.Met1366Ile)
c.4464G>A (p.Met1488Ile)
c.4216+13874G>A (n.4216+13874G>A)
c.4572G>A (p.Met1524Ile)
c.4545G>A (p.Met1515Ile)
c.4399G>A (p.Asp1467Asn)
c.4282G>A (p.Asp1428Asn)
c.2979G>A (p.Met993Ile)
n.4963G>A
n.4526+13874G>A
c.4536G>A (p.Met1512Ile)
n.4979G>A
n.4725G>A
n.4542+13874G>A
2g.227008175A=CA1332723944COL4A4c.254T= (p.Met85=)
c.4652T= (p.Met1551=)
c.4097T= (p.Met1366=)
c.4463T= (p.Met1488=)
c.4216+13873T= (n.4216+13873T=)
c.4571T= (p.Met1524=)
c.4544T= (p.Met1515=)
c.4398T= (p.His1466=)
c.4281T= (p.His1427=)
c.2978T= (p.Met993=)
n.4962T=
n.4526+13873T=
c.4535T= (p.Met1512=)
n.4978T=
n.4724T=
n.4542+13873T=
2g.227008175A>CCA351140764COL4A4c.254T>G (p.Met85Arg)
c.4652T>G (p.Met1551Arg)
c.4097T>G (p.Met1366Arg)
c.4463T>G (p.Met1488Arg)
c.4216+13873T>G (n.4216+13873T>G)
c.4571T>G (p.Met1524Arg)
c.4544T>G (p.Met1515Arg)
c.4398T>G (p.His1466Gln)
c.4281T>G (p.His1427Gln)
c.2978T>G (p.Met993Arg)
n.4962T>G
n.4526+13873T>G
c.4535T>G (p.Met1512Arg)
n.4978T>G
n.4724T>G
n.4542+13873T>G
2g.227008175A>GCA351140765COL4A4c.254T>C (p.Met85Thr)
c.4652T>C (p.Met1551Thr)
c.4097T>C (p.Met1366Thr)
c.4463T>C (p.Met1488Thr)
c.4216+13873T>C (n.4216+13873T>C)
c.4571T>C (p.Met1524Thr)
c.4544T>C (p.Met1515Thr)
c.4398T>C (p.His1466=)
c.4281T>C (p.His1427=)
c.2978T>C (p.Met993Thr)
n.4962T>C
n.4526+13873T>C
c.4535T>C (p.Met1512Thr)
n.4978T>C
n.4724T>C
n.4542+13873T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227008175A>TCA351140766COL4A4c.254T>A (p.Met85Lys)
c.4652T>A (p.Met1551Lys)
c.4097T>A (p.Met1366Lys)
c.4463T>A (p.Met1488Lys)
c.4216+13873T>A (n.4216+13873T>A)
c.4571T>A (p.Met1524Lys)
c.4544T>A (p.Met1515Lys)
c.4398T>A (p.His1466Gln)
c.4281T>A (p.His1427Gln)
c.2978T>A (p.Met993Lys)
n.4962T>A
n.4526+13873T>A
c.4535T>A (p.Met1512Lys)
n.4978T>A
n.4724T>A
n.4542+13873T>A
 dbSNP
2g.227008176T>ACA351140767COL4A4c.253A>T (p.Met85Leu)
c.4651A>T (p.Met1551Leu)
c.4096A>T (p.Met1366Leu)
c.4462A>T (p.Met1488Leu)
c.4216+13872A>T (n.4216+13872A>T)
c.4570A>T (p.Met1524Leu)
c.4543A>T (p.Met1515Leu)
c.4397A>T (p.His1466Leu)
c.4280A>T (p.His1427Leu)
c.2977A>T (p.Met993Leu)
n.4961A>T
n.4526+13872A>T
c.4534A>T (p.Met1512Leu)
n.4977A>T
n.4723A>T
n.4542+13872A>T
2g.227008176T>CCA351140768COL4A4c.253A>G (p.Met85Val)
c.4651A>G (p.Met1551Val)
c.4096A>G (p.Met1366Val)
c.4462A>G (p.Met1488Val)
c.4216+13872A>G (n.4216+13872A>G)
c.4570A>G (p.Met1524Val)
c.4543A>G (p.Met1515Val)
c.4397A>G (p.His1466Arg)
c.4280A>G (p.His1427Arg)
c.2977A>G (p.Met993Val)
n.4961A>G
n.4526+13872A>G
c.4534A>G (p.Met1512Val)
n.4977A>G
n.4723A>G
n.4542+13872A>G
 dbSNP gnomAD v4
2g.227008176T>GCA351140769COL4A4c.253A>C (p.Met85Leu)
c.4651A>C (p.Met1551Leu)
c.4096A>C (p.Met1366Leu)
c.4462A>C (p.Met1488Leu)
c.4216+13872A>C (n.4216+13872A>C)
c.4570A>C (p.Met1524Leu)
c.4543A>C (p.Met1515Leu)
c.4397A>C (p.His1466Pro)
c.4280A>C (p.His1427Pro)
c.2977A>C (p.Met993Leu)
n.4961A>C
n.4526+13872A>C
c.4534A>C (p.Met1512Leu)
n.4977A>C
n.4723A>C
n.4542+13872A>C
 dbSNP gnomAD v2 gnomAD v4
2g.227008176T=CA1332723945COL4A4c.253A= (p.Met85=)
c.4651A= (p.Met1551=)
c.4096A= (p.Met1366=)
c.4462A= (p.Met1488=)
c.4216+13872A= (n.4216+13872A=)
c.4570A= (p.Met1524=)
c.4543A= (p.Met1515=)
c.4397A= (p.His1466=)
c.4280A= (p.His1427=)
c.2977A= (p.Met993=)
n.4961A=
n.4526+13872A=
c.4534A= (p.Met1512=)
n.4977A=
n.4723A=
n.4542+13872A=
2g.227008177G>ACA431671924COL4A4c.252C>T (p.Pro84=)
c.4650C>T (p.Pro1550=)
c.4095C>T (p.Pro1365=)
c.4461C>T (p.Pro1487=)
c.4216+13871C>T (n.4216+13871C>T)
c.4569C>T (p.Pro1523=)
c.4542C>T (p.Pro1514=)
c.4396C>T (p.His1466Tyr)
c.4279C>T (p.His1427Tyr)
c.2976C>T (p.Pro992=)
n.4960C>T
n.4526+13871C>T
c.4533C>T (p.Pro1511=)
n.4976C>T
n.4722C>T
n.4542+13871C>T
2g.227008177G>CCA431671925COL4A4c.252C>G (p.Pro84=)
c.4650C>G (p.Pro1550=)
c.4095C>G (p.Pro1365=)
c.4461C>G (p.Pro1487=)
c.4216+13871C>G (n.4216+13871C>G)
c.4569C>G (p.Pro1523=)
c.4542C>G (p.Pro1514=)
c.4396C>G (p.His1466Asp)
c.4279C>G (p.His1427Asp)
c.2976C>G (p.Pro992=)
n.4960C>G
n.4526+13871C>G
c.4533C>G (p.Pro1511=)
n.4976C>G
n.4722C>G
n.4542+13871C>G
2g.227008177G=CA1332723946COL4A4c.252C= (p.Pro84=)
c.4650C= (p.Pro1550=)
c.4095C= (p.Pro1365=)
c.4461C= (p.Pro1487=)
c.4216+13871C= (n.4216+13871C=)
c.4569C= (p.Pro1523=)
c.4542C= (p.Pro1514=)
c.4396C= (p.His1466=)
c.4279C= (p.His1427=)
c.2976C= (p.Pro992=)
n.4960C=
n.4526+13871C=
c.4533C= (p.Pro1511=)
n.4976C=
n.4722C=
n.4542+13871C=
2g.227008177G>TCA2144106COL4A4c.252C>A (p.Pro84=)
c.4650C>A (p.Pro1550=)
c.4095C>A (p.Pro1365=)
c.4461C>A (p.Pro1487=)
c.4216+13871C>A (n.4216+13871C>A)
c.4569C>A (p.Pro1523=)
c.4542C>A (p.Pro1514=)
c.4396C>A (p.His1466Asn)
c.4279C>A (p.His1427Asn)
c.2976C>A (p.Pro992=)
n.4960C>A
n.4526+13871C>A
c.4533C>A (p.Pro1511=)
n.4976C>A
n.4722C>A
n.4542+13871C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008180delCA2740098046COL4A4c.252del (p.Met85Ter)
c.4650del (p.Met1551Ter)
c.4095del (p.Met1366Ter)
c.4461del (p.Met1488Ter)
c.4216+13871del (n.4216+13871del)
c.4569del (p.Met1524Ter)
c.4542del (p.Met1515Ter)
c.4396del (p.His1466MetfsTer?)
c.4279del (p.His1427MetfsTer?)
c.2976del (p.Met993Ter)
n.4960del
n.4526+13871del
c.4533del (p.Met1512Ter)
n.4976del
n.4722del
n.4542+13871del
2g.227008178G>ACA351140770COL4A4c.251C>T (p.Pro84Leu)
c.4649C>T (p.Pro1550Leu)
c.4094C>T (p.Pro1365Leu)
c.4460C>T (p.Pro1487Leu)
c.4216+13870C>T (n.4216+13870C>T)
c.4568C>T (p.Pro1523Leu)
c.4541C>T (p.Pro1514Leu)
c.4395C>T (p.Pro1465=)
c.4278C>T (p.Pro1426=)
c.2975C>T (p.Pro992Leu)
n.4959C>T
n.4526+13870C>T
c.4532C>T (p.Pro1511Leu)
n.4975C>T
n.4721C>T
n.4542+13870C>T
2g.227008178G>CCA351140771COL4A4c.251C>G (p.Pro84Arg)
c.4649C>G (p.Pro1550Arg)
c.4094C>G (p.Pro1365Arg)
c.4460C>G (p.Pro1487Arg)
c.4216+13870C>G (n.4216+13870C>G)
c.4568C>G (p.Pro1523Arg)
c.4541C>G (p.Pro1514Arg)
c.4395C>G (p.Pro1465=)
c.4278C>G (p.Pro1426=)
c.2975C>G (p.Pro992Arg)
n.4959C>G
n.4526+13870C>G
c.4532C>G (p.Pro1511Arg)
n.4975C>G
n.4721C>G
n.4542+13870C>G
2g.227008178G>TCA351140772COL4A4c.251C>A (p.Pro84His)
c.4649C>A (p.Pro1550His)
c.4094C>A (p.Pro1365His)
c.4460C>A (p.Pro1487His)
c.4216+13870C>A (n.4216+13870C>A)
c.4568C>A (p.Pro1523His)
c.4541C>A (p.Pro1514His)
c.4395C>A (p.Pro1465=)
c.4278C>A (p.Pro1426=)
c.2975C>A (p.Pro992His)
n.4959C>A
n.4526+13870C>A
c.4532C>A (p.Pro1511His)
n.4975C>A
n.4721C>A
n.4542+13870C>A
2g.227008179G>ACA351140775COL4A4c.250C>T (p.Pro84Ser)
c.4648C>T (p.Pro1550Ser)
c.4093C>T (p.Pro1365Ser)
c.4459C>T (p.Pro1487Ser)
c.4216+13869C>T (n.4216+13869C>T)
c.4567C>T (p.Pro1523Ser)
c.4540C>T (p.Pro1514Ser)
c.4394C>T (p.Pro1465Leu)
c.4277C>T (p.Pro1426Leu)
c.2974C>T (p.Pro992Ser)
n.4958C>T
n.4526+13869C>T
c.4531C>T (p.Pro1511Ser)
n.4974C>T
n.4720C>T
n.4542+13869C>T
2g.227008179G>CCA351140774COL4A4c.250C>G (p.Pro84Ala)
c.4648C>G (p.Pro1550Ala)
c.4093C>G (p.Pro1365Ala)
c.4459C>G (p.Pro1487Ala)
c.4216+13869C>G (n.4216+13869C>G)
c.4567C>G (p.Pro1523Ala)
c.4540C>G (p.Pro1514Ala)
c.4394C>G (p.Pro1465Arg)
c.4277C>G (p.Pro1426Arg)
c.2974C>G (p.Pro992Ala)
n.4958C>G
n.4526+13869C>G
c.4531C>G (p.Pro1511Ala)
n.4974C>G
n.4720C>G
n.4542+13869C>G
2g.227008179G>TCA351140773COL4A4c.250C>A (p.Pro84Thr)
c.4648C>A (p.Pro1550Thr)
c.4093C>A (p.Pro1365Thr)
c.4459C>A (p.Pro1487Thr)
c.4216+13869C>A (n.4216+13869C>A)
c.4567C>A (p.Pro1523Thr)
c.4540C>A (p.Pro1514Thr)
c.4394C>A (p.Pro1465His)
c.4277C>A (p.Pro1426His)
c.2974C>A (p.Pro992Thr)
n.4958C>A
n.4526+13869C>A
c.4531C>A (p.Pro1511Thr)
n.4974C>A
n.4720C>A
n.4542+13869C>A
2g.227008180G>ACA431671928COL4A4c.249C>T (p.Leu83=)
c.4647C>T (p.Leu1549=)
c.4092C>T (p.Leu1364=)
c.4458C>T (p.Leu1486=)
c.4216+13868C>T (n.4216+13868C>T)
c.4566C>T (p.Leu1522=)
c.4539C>T (p.Leu1513=)
c.4393C>T (p.Pro1465Ser)
c.4276C>T (p.Pro1426Ser)
c.2973C>T (p.Leu991=)
n.4957C>T
n.4526+13868C>T
c.4530C>T (p.Leu1510=)
n.4973C>T
n.4719C>T
n.4542+13868C>T
2g.227008180G>CCA431671926COL4A4c.249C>G (p.Leu83=)
c.4647C>G (p.Leu1549=)
c.4092C>G (p.Leu1364=)
c.4458C>G (p.Leu1486=)
c.4216+13868C>G (n.4216+13868C>G)
c.4566C>G (p.Leu1522=)
c.4539C>G (p.Leu1513=)
c.4393C>G (p.Pro1465Ala)
c.4276C>G (p.Pro1426Ala)
c.2973C>G (p.Leu991=)
n.4957C>G
n.4526+13868C>G
c.4530C>G (p.Leu1510=)
n.4973C>G
n.4719C>G
n.4542+13868C>G
2g.227008180G>TCA431671927COL4A4c.249C>A (p.Leu83=)
c.4647C>A (p.Leu1549=)
c.4092C>A (p.Leu1364=)
c.4458C>A (p.Leu1486=)
c.4216+13868C>A (n.4216+13868C>A)
c.4566C>A (p.Leu1522=)
c.4539C>A (p.Leu1513=)
c.4393C>A (p.Pro1465Thr)
c.4276C>A (p.Pro1426Thr)
c.2973C>A (p.Leu991=)
n.4957C>A
n.4526+13868C>A
c.4530C>A (p.Leu1510=)
n.4973C>A
n.4719C>A
n.4542+13868C>A
2g.227008181delCA2586965584COL4A4c.248del (p.Leu83ProfsTer3)
c.4646del (p.Leu1549ProfsTer3)
c.4091del (p.Leu1364ProfsTer3)
c.4457del (p.Leu1486ProfsTer3)
c.4216+13867del (n.4216+13867del)
c.4565del (p.Leu1522ProfsTer3)
c.4538del (p.Leu1513ProfsTer3)
c.4392del (p.His1466MetfsTer?)
c.4275del (p.His1427MetfsTer?)
c.2972del (p.Leu991ProfsTer3)
n.4956del
n.4526+13867del
c.4529del (p.Leu1510ProfsTer3)
n.4972del
n.4718del
n.4542+13867del
 gnomAD v4
2g.227008181A=CA1332723947COL4A4c.248T= (p.Leu83=)
c.4646T= (p.Leu1549=)
c.4091T= (p.Leu1364=)
c.4457T= (p.Leu1486=)
c.4216+13867T= (n.4216+13867T=)
c.4565T= (p.Leu1522=)
c.4538T= (p.Leu1513=)
c.4392T= (p.Pro1464=)
c.4275T= (p.Pro1425=)
c.2972T= (p.Leu991=)
n.4956T=
n.4526+13867T=
c.4529T= (p.Leu1510=)
n.4972T=
n.4718T=
n.4542+13867T=
2g.227008181A>CCA351140776COL4A4c.248T>G (p.Leu83Arg)
c.4646T>G (p.Leu1549Arg)
c.4091T>G (p.Leu1364Arg)
c.4457T>G (p.Leu1486Arg)
c.4216+13867T>G (n.4216+13867T>G)
c.4565T>G (p.Leu1522Arg)
c.4538T>G (p.Leu1513Arg)
c.4392T>G (p.Pro1464=)
c.4275T>G (p.Pro1425=)
c.2972T>G (p.Leu991Arg)
n.4956T>G
n.4526+13867T>G
c.4529T>G (p.Leu1510Arg)
n.4972T>G
n.4718T>G
n.4542+13867T>G
2g.227008181A>GCA351140777COL4A4c.248T>C (p.Leu83Pro)
c.4646T>C (p.Leu1549Pro)
c.4091T>C (p.Leu1364Pro)
c.4457T>C (p.Leu1486Pro)
c.4216+13867T>C (n.4216+13867T>C)
c.4565T>C (p.Leu1522Pro)
c.4538T>C (p.Leu1513Pro)
c.4392T>C (p.Pro1464=)
c.4275T>C (p.Pro1425=)
c.2972T>C (p.Leu991Pro)
n.4956T>C
n.4526+13867T>C
c.4529T>C (p.Leu1510Pro)
n.4972T>C
n.4718T>C
n.4542+13867T>C
 dbSNP gnomAD v2
2g.227008181A>TCA351140778COL4A4c.248T>A (p.Leu83His)
c.4646T>A (p.Leu1549His)
c.4091T>A (p.Leu1364His)
c.4457T>A (p.Leu1486His)
c.4216+13867T>A (n.4216+13867T>A)
c.4565T>A (p.Leu1522His)
c.4538T>A (p.Leu1513His)
c.4392T>A (p.Pro1464=)
c.4275T>A (p.Pro1425=)
c.2972T>A (p.Leu991His)
n.4956T>A
n.4526+13867T>A
c.4529T>A (p.Leu1510His)
n.4972T>A
n.4718T>A
n.4542+13867T>A
2g.227008181dupCA2573135353COL4A4c.248dup (p.Met85HisfsTer6)
c.4646dup (p.Met1551HisfsTer6)
c.4091dup (p.Met1366HisfsTer6)
c.4457dup (p.Met1488HisfsTer6)
c.4216+13867dup (n.4216+13867dup)
c.4565dup (p.Met1524HisfsTer6)
c.4538dup (p.Met1515HisfsTer6)
c.4392dup (p.Pro1465SerfsTer3)
c.4275dup (p.Pro1426SerfsTer3)
c.2972dup (p.Met993HisfsTer6)
n.4956dup
n.4526+13867dup
c.4529dup (p.Met1512HisfsTer6)
n.4972dup
n.4718dup
n.4542+13867dup
 ClinVar dbSNP
2g.227008182G>ACA2144107COL4A4c.247C>T (p.Leu83Phe)
c.4645C>T (p.Leu1549Phe)
c.4090C>T (p.Leu1364Phe)
c.4456C>T (p.Leu1486Phe)
c.4216+13866C>T (n.4216+13866C>T)
c.4564C>T (p.Leu1522Phe)
c.4537C>T (p.Leu1513Phe)
c.4391C>T (p.Pro1464Leu)
c.4274C>T (p.Pro1425Leu)
c.2971C>T (p.Leu991Phe)
n.4955C>T
n.4526+13866C>T
c.4528C>T (p.Leu1510Phe)
n.4971C>T
n.4717C>T
n.4542+13866C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008182G>CCA351140779COL4A4c.247C>G (p.Leu83Val)
c.4645C>G (p.Leu1549Val)
c.4090C>G (p.Leu1364Val)
c.4456C>G (p.Leu1486Val)
c.4216+13866C>G (n.4216+13866C>G)
c.4564C>G (p.Leu1522Val)
c.4537C>G (p.Leu1513Val)
c.4391C>G (p.Pro1464Arg)
c.4274C>G (p.Pro1425Arg)
c.2971C>G (p.Leu991Val)
n.4955C>G
n.4526+13866C>G
c.4528C>G (p.Leu1510Val)
n.4971C>G
n.4717C>G
n.4542+13866C>G
 gnomAD v4
2g.227008182G=CA1332723948COL4A4c.247C= (p.Leu83=)
c.4645C= (p.Leu1549=)
c.4090C= (p.Leu1364=)
c.4456C= (p.Leu1486=)
c.4216+13866C= (n.4216+13866C=)
c.4564C= (p.Leu1522=)
c.4537C= (p.Leu1513=)
c.4391C= (p.Pro1464=)
c.4274C= (p.Pro1425=)
c.2971C= (p.Leu991=)
n.4955C=
n.4526+13866C=
c.4528C= (p.Leu1510=)
n.4971C=
n.4717C=
n.4542+13866C=
2g.227008182G>TCA351140780COL4A4c.247C>A (p.Leu83Ile)
c.4645C>A (p.Leu1549Ile)
c.4090C>A (p.Leu1364Ile)
c.4456C>A (p.Leu1486Ile)
c.4216+13866C>A (n.4216+13866C>A)
c.4564C>A (p.Leu1522Ile)
c.4537C>A (p.Leu1513Ile)
c.4391C>A (p.Pro1464His)
c.4274C>A (p.Pro1425His)
c.2971C>A (p.Leu991Ile)
n.4955C>A
n.4526+13866C>A
c.4528C>A (p.Leu1510Ile)
n.4971C>A
n.4717C>A
n.4542+13866C>A
2g.227008185delCA2580065936COL4A4c.247del (p.Leu83SerfsTer3)
c.4645del (p.Leu1549SerfsTer3)
c.4090del (p.Leu1364SerfsTer3)
c.4456del (p.Leu1486SerfsTer3)
c.4216+13866del (n.4216+13866del)
c.4564del (p.Leu1522SerfsTer3)
c.4537del (p.Leu1513SerfsTer3)
c.4391del (p.Pro1464LeufsTer?)
c.4274del (p.Pro1425LeufsTer?)
c.2971del (p.Leu991SerfsTer3)
n.4955del
n.4526+13866del
c.4528del (p.Leu1510SerfsTer3)
n.4971del
n.4717del
n.4542+13866del
 ClinVar
2g.227008183G>ACA2144108COL4A4c.246C>T (p.Pro82=)
c.4644C>T (p.Pro1548=)
c.4089C>T (p.Pro1363=)
c.4455C>T (p.Pro1485=)
c.4216+13865C>T (n.4216+13865C>T)
c.4563C>T (p.Pro1521=)
c.4536C>T (p.Pro1512=)
c.4390C>T (p.Pro1464Ser)
c.4273C>T (p.Pro1425Ser)
c.2970C>T (p.Pro990=)
n.4954C>T
n.4526+13865C>T
c.4527C>T (p.Pro1509=)
n.4970C>T
n.4716C>T
n.4542+13865C>T
 dbSNP ExAC gnomAD v2 COSMIC
2g.227008183G>CCA431671932COL4A4c.246C>G (p.Pro82=)
c.4644C>G (p.Pro1548=)
c.4089C>G (p.Pro1363=)
c.4455C>G (p.Pro1485=)
c.4216+13865C>G (n.4216+13865C>G)
c.4563C>G (p.Pro1521=)
c.4536C>G (p.Pro1512=)
c.4390C>G (p.Pro1464Ala)
c.4273C>G (p.Pro1425Ala)
c.2970C>G (p.Pro990=)
n.4954C>G
n.4526+13865C>G
c.4527C>G (p.Pro1509=)
n.4970C>G
n.4716C>G
n.4542+13865C>G
2g.227008183G=CA1332723949COL4A4c.246C= (p.Pro82=)
c.4644C= (p.Pro1548=)
c.4089C= (p.Pro1363=)
c.4455C= (p.Pro1485=)
c.4216+13865C= (n.4216+13865C=)
c.4563C= (p.Pro1521=)
c.4536C= (p.Pro1512=)
c.4390C= (p.Pro1464=)
c.4273C= (p.Pro1425=)
c.2970C= (p.Pro990=)
n.4954C=
n.4526+13865C=
c.4527C= (p.Pro1509=)
n.4970C=
n.4716C=
n.4542+13865C=
2g.227008183G>TCA431671933COL4A4c.246C>A (p.Pro82=)
c.4644C>A (p.Pro1548=)
c.4089C>A (p.Pro1363=)
c.4455C>A (p.Pro1485=)
c.4216+13865C>A (n.4216+13865C>A)
c.4563C>A (p.Pro1521=)
c.4536C>A (p.Pro1512=)
c.4390C>A (p.Pro1464Thr)
c.4273C>A (p.Pro1425Thr)
c.2970C>A (p.Pro990=)
n.4954C>A
n.4526+13865C>A
c.4527C>A (p.Pro1509=)
n.4970C>A
n.4716C>A
n.4542+13865C>A
2g.227008184G>ACA2144109COL4A4c.245C>T (p.Pro82Leu)
c.4643C>T (p.Pro1548Leu)
c.4088C>T (p.Pro1363Leu)
c.4454C>T (p.Pro1485Leu)
c.4216+13864C>T (n.4216+13864C>T)
c.4562C>T (p.Pro1521Leu)
c.4535C>T (p.Pro1512Leu)
c.4389C>T (p.Ala1463=)
c.4272C>T (p.Ala1424=)
c.2969C>T (p.Pro990Leu)
n.4953C>T
n.4526+13864C>T
c.4526C>T (p.Pro1509Leu)
n.4969C>T
n.4715C>T
n.4542+13864C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008184G>CCA351140781COL4A4c.245C>G (p.Pro82Arg)
c.4643C>G (p.Pro1548Arg)
c.4088C>G (p.Pro1363Arg)
c.4454C>G (p.Pro1485Arg)
c.4216+13864C>G (n.4216+13864C>G)
c.4562C>G (p.Pro1521Arg)
c.4535C>G (p.Pro1512Arg)
c.4389C>G (p.Ala1463=)
c.4272C>G (p.Ala1424=)
c.2969C>G (p.Pro990Arg)
n.4953C>G
n.4526+13864C>G
c.4526C>G (p.Pro1509Arg)
n.4969C>G
n.4715C>G
n.4542+13864C>G
 gnomAD v4
2g.227008184G=CA1332723950COL4A4c.245C= (p.Pro82=)
c.4643C= (p.Pro1548=)
c.4088C= (p.Pro1363=)
c.4454C= (p.Pro1485=)
c.4216+13864C= (n.4216+13864C=)
c.4562C= (p.Pro1521=)
c.4535C= (p.Pro1512=)
c.4389C= (p.Ala1463=)
c.4272C= (p.Ala1424=)
c.2969C= (p.Pro990=)
n.4953C=
n.4526+13864C=
c.4526C= (p.Pro1509=)
n.4969C=
n.4715C=
n.4542+13864C=
2g.227008184G>TCA351140782COL4A4c.245C>A (p.Pro82His)
c.4643C>A (p.Pro1548His)
c.4088C>A (p.Pro1363His)
c.4454C>A (p.Pro1485His)
c.4216+13864C>A (n.4216+13864C>A)
c.4562C>A (p.Pro1521His)
c.4535C>A (p.Pro1512His)
c.4389C>A (p.Ala1463=)
c.4272C>A (p.Ala1424=)
c.2969C>A (p.Pro990His)
n.4953C>A
n.4526+13864C>A
c.4526C>A (p.Pro1509His)
n.4969C>A
n.4715C>A
n.4542+13864C>A
2g.227008185G>ACA351140783COL4A4c.244C>T (p.Pro82Ser)
c.4642C>T (p.Pro1548Ser)
c.4087C>T (p.Pro1363Ser)
c.4453C>T (p.Pro1485Ser)
c.4216+13863C>T (n.4216+13863C>T)
c.4561C>T (p.Pro1521Ser)
c.4534C>T (p.Pro1512Ser)
c.4388C>T (p.Ala1463Val)
c.4271C>T (p.Ala1424Val)
c.2968C>T (p.Pro990Ser)
n.4952C>T
n.4526+13863C>T
c.4525C>T (p.Pro1509Ser)
n.4968C>T
n.4714C>T
n.4542+13863C>T
 ClinVar
2g.227008185G>CCA351140784COL4A4c.244C>G (p.Pro82Ala)
c.4642C>G (p.Pro1548Ala)
c.4087C>G (p.Pro1363Ala)
c.4453C>G (p.Pro1485Ala)
c.4216+13863C>G (n.4216+13863C>G)
c.4561C>G (p.Pro1521Ala)
c.4534C>G (p.Pro1512Ala)
c.4388C>G (p.Ala1463Gly)
c.4271C>G (p.Ala1424Gly)
c.2968C>G (p.Pro990Ala)
n.4952C>G
n.4526+13863C>G
c.4525C>G (p.Pro1509Ala)
n.4968C>G
n.4714C>G
n.4542+13863C>G
2g.227008185G>TCA351140785COL4A4c.244C>A (p.Pro82Thr)
c.4642C>A (p.Pro1548Thr)
c.4087C>A (p.Pro1363Thr)
c.4453C>A (p.Pro1485Thr)
c.4216+13863C>A (n.4216+13863C>A)
c.4561C>A (p.Pro1521Thr)
c.4534C>A (p.Pro1512Thr)
c.4388C>A (p.Ala1463Asp)
c.4271C>A (p.Ala1424Asp)
c.2968C>A (p.Pro990Thr)
n.4952C>A
n.4526+13863C>A
c.4525C>A (p.Pro1509Thr)
n.4968C>A
n.4714C>A
n.4542+13863C>A
2g.227008186C>ACA431671936COL4A4c.243G>T (p.Ala81=)
c.4641G>T (p.Ala1547=)
c.4086G>T (p.Ala1362=)
c.4452G>T (p.Ala1484=)
c.4216+13862G>T (n.4216+13862G>T)
c.4560G>T (p.Ala1520=)
c.4533G>T (p.Ala1511=)
c.4387G>T (p.Ala1463Ser)
c.4270G>T (p.Ala1424Ser)
c.2967G>T (p.Ala989=)
n.4951G>T
n.4526+13862G>T
c.4524G>T (p.Ala1508=)
n.4967G>T
n.4713G>T
n.4542+13862G>T
2g.227008186C=CA1332723951COL4A4c.243G= (p.Ala81=)
c.4641G= (p.Ala1547=)
c.4086G= (p.Ala1362=)
c.4452G= (p.Ala1484=)
c.4216+13862G= (n.4216+13862G=)
c.4560G= (p.Ala1520=)
c.4533G= (p.Ala1511=)
c.4387G= (p.Ala1463=)
c.4270G= (p.Ala1424=)
c.2967G= (p.Ala989=)
n.4951G=
n.4526+13862G=
c.4524G= (p.Ala1508=)
n.4967G=
n.4713G=
n.4542+13862G=
2g.227008186C>GCA431671937COL4A4c.243G>C (p.Ala81=)
c.4641G>C (p.Ala1547=)
c.4086G>C (p.Ala1362=)
c.4452G>C (p.Ala1484=)
c.4216+13862G>C (n.4216+13862G>C)
c.4560G>C (p.Ala1520=)
c.4533G>C (p.Ala1511=)
c.4387G>C (p.Ala1463Pro)
c.4270G>C (p.Ala1424Pro)
c.2967G>C (p.Ala989=)
n.4951G>C
n.4526+13862G>C
c.4524G>C (p.Ala1508=)
n.4967G>C
n.4713G>C
n.4542+13862G>C
2g.227008186C>TCA2144110COL4A4c.243G>A (p.Ala81=)
c.4641G>A (p.Ala1547=)
c.4086G>A (p.Ala1362=)
c.4452G>A (p.Ala1484=)
c.4216+13862G>A (n.4216+13862G>A)
c.4560G>A (p.Ala1520=)
c.4533G>A (p.Ala1511=)
c.4387G>A (p.Ala1463Thr)
c.4270G>A (p.Ala1424Thr)
c.2967G>A (p.Ala989=)
n.4951G>A
n.4526+13862G>A
c.4524G>A (p.Ala1508=)
n.4967G>A
n.4713G>A
n.4542+13862G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.227008187G>ACA2144111COL4A4c.242C>T (p.Ala81Val)
c.4640C>T (p.Ala1547Val)
c.4085C>T (p.Ala1362Val)
c.4451C>T (p.Ala1484Val)
c.4216+13861C>T (n.4216+13861C>T)
c.4559C>T (p.Ala1520Val)
c.4532C>T (p.Ala1511Val)
c.4386C>T (p.Cys1462=)
c.4269C>T (p.Cys1423=)
c.2966C>T (p.Ala989Val)
n.4950C>T
n.4526+13861C>T
c.4523C>T (p.Ala1508Val)
n.4966C>T
n.4712C>T
n.4542+13861C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008187G>CCA351140787COL4A4c.242C>G (p.Ala81Gly)
c.4640C>G (p.Ala1547Gly)
c.4085C>G (p.Ala1362Gly)
c.4451C>G (p.Ala1484Gly)
c.4216+13861C>G (n.4216+13861C>G)
c.4559C>G (p.Ala1520Gly)
c.4532C>G (p.Ala1511Gly)
c.4386C>G (p.Cys1462Trp)
c.4269C>G (p.Cys1423Trp)
c.2966C>G (p.Ala989Gly)
n.4950C>G
n.4526+13861C>G
c.4523C>G (p.Ala1508Gly)
n.4966C>G
n.4712C>G
n.4542+13861C>G
2g.227008187G=CA1332723952COL4A4c.242C= (p.Ala81=)
c.4640C= (p.Ala1547=)
c.4085C= (p.Ala1362=)
c.4451C= (p.Ala1484=)
c.4216+13861C= (n.4216+13861C=)
c.4559C= (p.Ala1520=)
c.4532C= (p.Ala1511=)
c.4386C= (p.Cys1462=)
c.4269C= (p.Cys1423=)
c.2966C= (p.Ala989=)
n.4950C=
n.4526+13861C=
c.4523C= (p.Ala1508=)
n.4966C=
n.4712C=
n.4542+13861C=
2g.227008187G>TCA351140786COL4A4c.242C>A (p.Ala81Glu)
c.4640C>A (p.Ala1547Glu)
c.4085C>A (p.Ala1362Glu)
c.4451C>A (p.Ala1484Glu)
c.4216+13861C>A (n.4216+13861C>A)
c.4559C>A (p.Ala1520Glu)
c.4532C>A (p.Ala1511Glu)
c.4386C>A (p.Cys1462Ter)
c.4269C>A (p.Cys1423Ter)
c.2966C>A (p.Ala989Glu)
n.4950C>A
n.4526+13861C>A
c.4523C>A (p.Ala1508Glu)
n.4966C>A
n.4712C>A
n.4542+13861C>A
2g.227008188C>ACA351140788COL4A4c.241G>T (p.Ala81Ser)
c.4639G>T (p.Ala1547Ser)
c.4084G>T (p.Ala1362Ser)
c.4450G>T (p.Ala1484Ser)
c.4216+13860G>T (n.4216+13860G>T)
c.4558G>T (p.Ala1520Ser)
c.4531G>T (p.Ala1511Ser)
c.4385G>T (p.Cys1462Phe)
c.4268G>T (p.Cys1423Phe)
c.2965G>T (p.Ala989Ser)
n.4949G>T
n.4526+13860G>T
c.4522G>T (p.Ala1508Ser)
n.4965G>T
n.4711G>T
n.4542+13860G>T
 COSMIC
2g.227008188C>GCA351140789COL4A4c.241G>C (p.Ala81Pro)
c.4639G>C (p.Ala1547Pro)
c.4084G>C (p.Ala1362Pro)
c.4450G>C (p.Ala1484Pro)
c.4216+13860G>C (n.4216+13860G>C)
c.4558G>C (p.Ala1520Pro)
c.4531G>C (p.Ala1511Pro)
c.4385G>C (p.Cys1462Ser)
c.4268G>C (p.Cys1423Ser)
c.2965G>C (p.Ala989Pro)
n.4949G>C
n.4526+13860G>C
c.4522G>C (p.Ala1508Pro)
n.4965G>C
n.4711G>C
n.4542+13860G>C
 gnomAD v4
2g.227008188C>TCA351140790COL4A4c.241G>A (p.Ala81Thr)
c.4639G>A (p.Ala1547Thr)
c.4084G>A (p.Ala1362Thr)
c.4450G>A (p.Ala1484Thr)
c.4216+13860G>A (n.4216+13860G>A)
c.4558G>A (p.Ala1520Thr)
c.4531G>A (p.Ala1511Thr)
c.4385G>A (p.Cys1462Tyr)
c.4268G>A (p.Cys1423Tyr)
c.2965G>A (p.Ala989Thr)
n.4949G>A
n.4526+13860G>A
c.4522G>A (p.Ala1508Thr)
n.4965G>A
n.4711G>A
n.4542+13860G>A
2g.227008189A>CCA431671938COL4A4c.240T>G (p.Ala80=)
c.4638T>G (p.Ala1546=)
c.4083T>G (p.Ala1361=)
c.4449T>G (p.Ala1483=)
c.4216+13859T>G (n.4216+13859T>G)
c.4557T>G (p.Ala1519=)
c.4530T>G (p.Ala1510=)
c.4384T>G (p.Cys1462Gly)
c.4267T>G (p.Cys1423Gly)
c.2964T>G (p.Ala988=)
n.4948T>G
n.4526+13859T>G
c.4521T>G (p.Ala1507=)
n.4964T>G
n.4710T>G
n.4542+13859T>G
 gnomAD v4
2g.227008189A>GCA431671939COL4A4c.240T>C (p.Ala80=)
c.4638T>C (p.Ala1546=)
c.4083T>C (p.Ala1361=)
c.4449T>C (p.Ala1483=)
c.4216+13859T>C (n.4216+13859T>C)
c.4557T>C (p.Ala1519=)
c.4530T>C (p.Ala1510=)
c.4384T>C (p.Cys1462Arg)
c.4267T>C (p.Cys1423Arg)
c.2964T>C (p.Ala988=)
n.4948T>C
n.4526+13859T>C
c.4521T>C (p.Ala1507=)
n.4964T>C
n.4710T>C
n.4542+13859T>C
 gnomAD v4
2g.227008189A>TCA431671940COL4A4c.240T>A (p.Ala80=)
c.4638T>A (p.Ala1546=)
c.4083T>A (p.Ala1361=)
c.4449T>A (p.Ala1483=)
c.4216+13859T>A (n.4216+13859T>A)
c.4557T>A (p.Ala1519=)
c.4530T>A (p.Ala1510=)
c.4384T>A (p.Cys1462Ser)
c.4267T>A (p.Cys1423Ser)
c.2964T>A (p.Ala988=)
n.4948T>A
n.4526+13859T>A
c.4521T>A (p.Ala1507=)
n.4964T>A
n.4710T>A
n.4542+13859T>A
2g.227008190G>ACA351140791COL4A4c.239C>T (p.Ala80Val)
c.4637C>T (p.Ala1546Val)
c.4082C>T (p.Ala1361Val)
c.4448C>T (p.Ala1483Val)
c.4216+13858C>T (n.4216+13858C>T)
c.4556C>T (p.Ala1519Val)
c.4529C>T (p.Ala1510Val)
c.4383C>T (p.Arg1461=)
c.4266C>T (p.Arg1422=)
c.2963C>T (p.Ala988Val)
n.4947C>T
n.4526+13858C>T
c.4520C>T (p.Ala1507Val)
n.4963C>T
n.4709C>T
n.4542+13858C>T
2g.227008190G>CCA351140792COL4A4c.239C>G (p.Ala80Gly)
c.4637C>G (p.Ala1546Gly)
c.4082C>G (p.Ala1361Gly)
c.4448C>G (p.Ala1483Gly)
c.4216+13858C>G (n.4216+13858C>G)
c.4556C>G (p.Ala1519Gly)
c.4529C>G (p.Ala1510Gly)
c.4383C>G (p.Arg1461=)
c.4266C>G (p.Arg1422=)
c.2963C>G (p.Ala988Gly)
n.4947C>G
n.4526+13858C>G
c.4520C>G (p.Ala1507Gly)
n.4963C>G
n.4709C>G
n.4542+13858C>G
 gnomAD v4
2g.227008190G>TCA351140793COL4A4c.239C>A (p.Ala80Asp)
c.4637C>A (p.Ala1546Asp)
c.4082C>A (p.Ala1361Asp)
c.4448C>A (p.Ala1483Asp)
c.4216+13858C>A (n.4216+13858C>A)
c.4556C>A (p.Ala1519Asp)
c.4529C>A (p.Ala1510Asp)
c.4383C>A (p.Arg1461=)
c.4266C>A (p.Arg1422=)
c.2963C>A (p.Ala988Asp)
n.4947C>A
n.4526+13858C>A
c.4520C>A (p.Ala1507Asp)
n.4963C>A
n.4709C>A
n.4542+13858C>A
2g.227008192_227008193dupCA2663402742COL4A4c.238_239dup (p.Ala81LeufsTer6)
c.4636_4637dup (p.Ala1547LeufsTer6)
c.4081_4082dup (p.Ala1362LeufsTer6)
c.4447_4448dup (p.Ala1484LeufsTer6)
c.4216+13857_4216+13858dup (n.4216+13857_4216+13858dup)
c.4555_4556dup (p.Ala1520LeufsTer6)
c.4528_4529dup (p.Ala1511LeufsTer6)
c.4382_4383dup (p.Cys1462AlafsTer?)
c.4265_4266dup (p.Cys1423AlafsTer?)
c.2962_2963dup (p.Ala989LeufsTer6)
n.4946_4947dup
n.4526+13857_4526+13858dup
c.4519_4520dup (p.Ala1508LeufsTer6)
n.4962_4963dup
n.4708_4709dup
n.4542+13857_4542+13858dup
 gnomAD v4
2g.227008191C>ACA351140794COL4A4c.238G>T (p.Ala80Ser)
c.4636G>T (p.Ala1546Ser)
c.4081G>T (p.Ala1361Ser)
c.4447G>T (p.Ala1483Ser)
c.4216+13857G>T (n.4216+13857G>T)
c.4555G>T (p.Ala1519Ser)
c.4528G>T (p.Ala1510Ser)
c.4382G>T (p.Arg1461Leu)
c.4265G>T (p.Arg1422Leu)
c.2962G>T (p.Ala988Ser)
n.4946G>T
n.4526+13857G>T
c.4519G>T (p.Ala1507Ser)
n.4962G>T
n.4708G>T
n.4542+13857G>T
 gnomAD v4
2g.227008191C=CA1332723953COL4A4c.238G= (p.Ala80=)
c.4636G= (p.Ala1546=)
c.4081G= (p.Ala1361=)
c.4447G= (p.Ala1483=)
c.4216+13857G= (n.4216+13857G=)
c.4555G= (p.Ala1519=)
c.4528G= (p.Ala1510=)
c.4382G= (p.Arg1461=)
c.4265G= (p.Arg1422=)
c.2962G= (p.Ala988=)
n.4946G=
n.4526+13857G=
c.4519G= (p.Ala1507=)
n.4962G=
n.4708G=
n.4542+13857G=
2g.227008191C>GCA351140795COL4A4c.238G>C (p.Ala80Pro)
c.4636G>C (p.Ala1546Pro)
c.4081G>C (p.Ala1361Pro)
c.4447G>C (p.Ala1483Pro)
c.4216+13857G>C (n.4216+13857G>C)
c.4555G>C (p.Ala1519Pro)
c.4528G>C (p.Ala1510Pro)
c.4382G>C (p.Arg1461Pro)
c.4265G>C (p.Arg1422Pro)
c.2962G>C (p.Ala988Pro)
n.4946G>C
n.4526+13857G>C
c.4519G>C (p.Ala1507Pro)
n.4962G>C
n.4708G>C
n.4542+13857G>C
2g.227008191C>TCA2144112COL4A4c.238G>A (p.Ala80Thr)
c.4636G>A (p.Ala1546Thr)
c.4081G>A (p.Ala1361Thr)
c.4447G>A (p.Ala1483Thr)
c.4216+13857G>A (n.4216+13857G>A)
c.4555G>A (p.Ala1519Thr)
c.4528G>A (p.Ala1510Thr)
c.4382G>A (p.Arg1461His)
c.4265G>A (p.Arg1422His)
c.2962G>A (p.Ala988Thr)
n.4946G>A
n.4526+13857G>A
c.4519G>A (p.Ala1507Thr)
n.4962G>A
n.4708G>A
n.4542+13857G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008192G>ACA2144113COL4A4c.237C>T (p.Ser79=)
c.4635C>T (p.Ser1545=)
c.4080C>T (p.Ser1360=)
c.4446C>T (p.Ser1482=)
c.4216+13856C>T (n.4216+13856C>T)
c.4554C>T (p.Ser1518=)
c.4527C>T (p.Ser1509=)
c.4381C>T (p.Arg1461Cys)
c.4264C>T (p.Arg1422Cys)
c.2961C>T (p.Ser987=)
n.4945C>T
n.4526+13856C>T
c.4518C>T (p.Ser1506=)
n.4961C>T
n.4707C>T
n.4542+13856C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008192G>CCA351140796COL4A4c.237C>G (p.Ser79Arg)
c.4635C>G (p.Ser1545Arg)
c.4080C>G (p.Ser1360Arg)
c.4446C>G (p.Ser1482Arg)
c.4216+13856C>G (n.4216+13856C>G)
c.4554C>G (p.Ser1518Arg)
c.4527C>G (p.Ser1509Arg)
c.4381C>G (p.Arg1461Gly)
c.4264C>G (p.Arg1422Gly)
c.2961C>G (p.Ser987Arg)
n.4945C>G
n.4526+13856C>G
c.4518C>G (p.Ser1506Arg)
n.4961C>G
n.4707C>G
n.4542+13856C>G
2g.227008192G=CA1332723954COL4A4c.237C= (p.Ser79=)
c.4635C= (p.Ser1545=)
c.4080C= (p.Ser1360=)
c.4446C= (p.Ser1482=)
c.4216+13856C= (n.4216+13856C=)
c.4554C= (p.Ser1518=)
c.4527C= (p.Ser1509=)
c.4381C= (p.Arg1461=)
c.4264C= (p.Arg1422=)
c.2961C= (p.Ser987=)
n.4945C=
n.4526+13856C=
c.4518C= (p.Ser1506=)
n.4961C=
n.4707C=
n.4542+13856C=
2g.227008192G>TCA351140797COL4A4c.237C>A (p.Ser79Arg)
c.4635C>A (p.Ser1545Arg)
c.4080C>A (p.Ser1360Arg)
c.4446C>A (p.Ser1482Arg)
c.4216+13856C>A (n.4216+13856C>A)
c.4554C>A (p.Ser1518Arg)
c.4527C>A (p.Ser1509Arg)
c.4381C>A (p.Arg1461Ser)
c.4264C>A (p.Arg1422Ser)
c.2961C>A (p.Ser987Arg)
n.4945C>A
n.4526+13856C>A
c.4518C>A (p.Ser1506Arg)
n.4961C>A
n.4707C>A
n.4542+13856C>A
 gnomAD v4
2g.227008193C>ACA351140800COL4A4c.236G>T (p.Ser79Ile)
c.4634G>T (p.Ser1545Ile)
c.4079G>T (p.Ser1360Ile)
c.4445G>T (p.Ser1482Ile)
c.4216+13855G>T (n.4216+13855G>T)
c.4553G>T (p.Ser1518Ile)
c.4526G>T (p.Ser1509Ile)
c.4380G>T (p.Gln1460His)
c.4263G>T (p.Gln1421His)
c.2960G>T (p.Ser987Ile)
n.4944G>T
n.4526+13855G>T
c.4517G>T (p.Ser1506Ile)
n.4960G>T
n.4706G>T
n.4542+13855G>T
2g.227008193C>GCA351140798COL4A4c.236G>C (p.Ser79Thr)
c.4634G>C (p.Ser1545Thr)
c.4079G>C (p.Ser1360Thr)
c.4445G>C (p.Ser1482Thr)
c.4216+13855G>C (n.4216+13855G>C)
c.4553G>C (p.Ser1518Thr)
c.4526G>C (p.Ser1509Thr)
c.4380G>C (p.Gln1460His)
c.4263G>C (p.Gln1421His)
c.2960G>C (p.Ser987Thr)
n.4944G>C
n.4526+13855G>C
c.4517G>C (p.Ser1506Thr)
n.4960G>C
n.4706G>C
n.4542+13855G>C
2g.227008193C>TCA351140799COL4A4c.236G>A (p.Ser79Asn)
c.4634G>A (p.Ser1545Asn)
c.4079G>A (p.Ser1360Asn)
c.4445G>A (p.Ser1482Asn)
c.4216+13855G>A (n.4216+13855G>A)
c.4553G>A (p.Ser1518Asn)
c.4526G>A (p.Ser1509Asn)
c.4380G>A (p.Gln1460=)
c.4263G>A (p.Gln1421=)
c.2960G>A (p.Ser987Asn)
n.4944G>A
n.4526+13855G>A
c.4517G>A (p.Ser1506Asn)
n.4960G>A
n.4706G>A
n.4542+13855G>A
2g.227008194T>ACA67238299COL4A4c.235A>T (p.Ser79Cys)
c.4633A>T (p.Ser1545Cys)
c.4078A>T (p.Ser1360Cys)
c.4444A>T (p.Ser1482Cys)
c.4216+13854A>T (n.4216+13854A>T)
c.4552A>T (p.Ser1518Cys)
c.4525A>T (p.Ser1509Cys)
c.4379A>T (p.Gln1460Leu)
c.4262A>T (p.Gln1421Leu)
c.2959A>T (p.Ser987Cys)
n.4943A>T
n.4526+13854A>T
c.4516A>T (p.Ser1506Cys)
n.4959A>T
n.4705A>T
n.4542+13854A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008194T>CCA351140801COL4A4c.235A>G (p.Ser79Gly)
c.4633A>G (p.Ser1545Gly)
c.4078A>G (p.Ser1360Gly)
c.4444A>G (p.Ser1482Gly)
c.4216+13854A>G (n.4216+13854A>G)
c.4552A>G (p.Ser1518Gly)
c.4525A>G (p.Ser1509Gly)
c.4379A>G (p.Gln1460Arg)
c.4262A>G (p.Gln1421Arg)
c.2959A>G (p.Ser987Gly)
n.4943A>G
n.4526+13854A>G
c.4516A>G (p.Ser1506Gly)
n.4959A>G
n.4705A>G
n.4542+13854A>G
2g.227008194T>GCA351140802COL4A4c.235A>C (p.Ser79Arg)
c.4633A>C (p.Ser1545Arg)
c.4078A>C (p.Ser1360Arg)
c.4444A>C (p.Ser1482Arg)
c.4216+13854A>C (n.4216+13854A>C)
c.4552A>C (p.Ser1518Arg)
c.4525A>C (p.Ser1509Arg)
c.4379A>C (p.Gln1460Pro)
c.4262A>C (p.Gln1421Pro)
c.2959A>C (p.Ser987Arg)
n.4943A>C
n.4526+13854A>C
c.4516A>C (p.Ser1506Arg)
n.4959A>C
n.4705A>C
n.4542+13854A>C
2g.227008194T=CA1332723955COL4A4c.235A= (p.Ser79=)
c.4633A= (p.Ser1545=)
c.4078A= (p.Ser1360=)
c.4444A= (p.Ser1482=)
c.4216+13854A= (n.4216+13854A=)
c.4552A= (p.Ser1518=)
c.4525A= (p.Ser1509=)
c.4379A= (p.Gln1460=)
c.4262A= (p.Gln1421=)
c.2959A= (p.Ser987=)
n.4943A=
n.4526+13854A=
c.4516A= (p.Ser1506=)
n.4959A=
n.4705A=
n.4542+13854A=
2g.227008195G>ACA431671947COL4A4c.234C>T (p.Ala78=)
c.4632C>T (p.Ala1544=)
c.4077C>T (p.Ala1359=)
c.4443C>T (p.Ala1481=)
c.4216+13853C>T (n.4216+13853C>T)
c.4551C>T (p.Ala1517=)
c.4524C>T (p.Ala1508=)
c.4378C>T (p.Gln1460Ter)
c.4261C>T (p.Gln1421Ter)
c.2958C>T (p.Ala986=)
n.4942C>T
n.4526+13853C>T
c.4515C>T (p.Ala1505=)
n.4958C>T
n.4704C>T
n.4542+13853C>T
2g.227008195G>CCA431671948COL4A4c.234C>G (p.Ala78=)
c.4632C>G (p.Ala1544=)
c.4077C>G (p.Ala1359=)
c.4443C>G (p.Ala1481=)
c.4216+13853C>G (n.4216+13853C>G)
c.4551C>G (p.Ala1517=)
c.4524C>G (p.Ala1508=)
c.4378C>G (p.Gln1460Glu)
c.4261C>G (p.Gln1421Glu)
c.2958C>G (p.Ala986=)
n.4942C>G
n.4526+13853C>G
c.4515C>G (p.Ala1505=)
n.4958C>G
n.4704C>G
n.4542+13853C>G
2g.227008195G>TCA431671949COL4A4c.234C>A (p.Ala78=)
c.4632C>A (p.Ala1544=)
c.4077C>A (p.Ala1359=)
c.4443C>A (p.Ala1481=)
c.4216+13853C>A (n.4216+13853C>A)
c.4551C>A (p.Ala1517=)
c.4524C>A (p.Ala1508=)
c.4378C>A (p.Gln1460Lys)
c.4261C>A (p.Gln1421Lys)
c.2958C>A (p.Ala986=)
n.4942C>A
n.4526+13853C>A
c.4515C>A (p.Ala1505=)
n.4958C>A
n.4704C>A
n.4542+13853C>A
2g.227008195_227008199delinsGGCCACA1332723956COL4A4c.230_234delinsTGGCC (p.Leu77=)
c.4628_4632delinsTGGCC (p.Leu1543=)
c.4073_4077delinsTGGCC (p.Leu1358=)
c.4439_4443delinsTGGCC (p.Leu1480=)
c.4216+13849_4216+13853delinsTGGCC (n.4216+13849_4216+13853delinsTGGCC)
c.4547_4551delinsTGGCC (p.Leu1516=)
c.4520_4524delinsTGGCC (p.Leu1507=)
c.4374_4378delinsTGGCC (p.Ala1458=)
c.4257_4261delinsTGGCC (p.Ala1419=)
c.2954_2958delinsTGGCC (p.Leu985=)
n.4938_4942delinsTGGCC
n.4526+13849_4526+13853delinsTGGCC
c.4511_4515delinsTGGCC (p.Leu1504=)
n.4954_4958delinsTGGCC
n.4700_4704delinsTGGCC
n.4542+13849_4542+13853delinsTGGCC
2g.227008196G>ACA351140803COL4A4c.233C>T (p.Ala78Val)
c.4631C>T (p.Ala1544Val)
c.4076C>T (p.Ala1359Val)
c.4442C>T (p.Ala1481Val)
c.4216+13852C>T (n.4216+13852C>T)
c.4550C>T (p.Ala1517Val)
c.4523C>T (p.Ala1508Val)
c.4377C>T (p.Gly1459=)
c.4260C>T (p.Gly1420=)
c.2957C>T (p.Ala986Val)
n.4941C>T
n.4526+13852C>T
c.4514C>T (p.Ala1505Val)
n.4957C>T
n.4703C>T
n.4542+13852C>T
2g.227008196G>CCA351140804COL4A4c.233C>G (p.Ala78Gly)
c.4631C>G (p.Ala1544Gly)
c.4076C>G (p.Ala1359Gly)
c.4442C>G (p.Ala1481Gly)
c.4216+13852C>G (n.4216+13852C>G)
c.4550C>G (p.Ala1517Gly)
c.4523C>G (p.Ala1508Gly)
c.4377C>G (p.Gly1459=)
c.4260C>G (p.Gly1420=)
c.2957C>G (p.Ala986Gly)
n.4941C>G
n.4526+13852C>G
c.4514C>G (p.Ala1505Gly)
n.4957C>G
n.4703C>G
n.4542+13852C>G
 dbSNP
2g.227008196G=CA1332723957COL4A4c.233C= (p.Ala78=)
c.4631C= (p.Ala1544=)
c.4076C= (p.Ala1359=)
c.4442C= (p.Ala1481=)
c.4216+13852C= (n.4216+13852C=)
c.4550C= (p.Ala1517=)
c.4523C= (p.Ala1508=)
c.4377C= (p.Gly1459=)
c.4260C= (p.Gly1420=)
c.2957C= (p.Ala986=)
n.4941C=
n.4526+13852C=
c.4514C= (p.Ala1505=)
n.4957C=
n.4703C=
n.4542+13852C=
2g.227008196G>TCA351140805COL4A4c.233C>A (p.Ala78Asp)
c.4631C>A (p.Ala1544Asp)
c.4076C>A (p.Ala1359Asp)
c.4442C>A (p.Ala1481Asp)
c.4216+13852C>A (n.4216+13852C>A)
c.4550C>A (p.Ala1517Asp)
c.4523C>A (p.Ala1508Asp)
c.4377C>A (p.Gly1459=)
c.4260C>A (p.Gly1420=)
c.2957C>A (p.Ala986Asp)
n.4941C>A
n.4526+13852C>A
c.4514C>A (p.Ala1505Asp)
n.4957C>A
n.4703C>A
n.4542+13852C>A
 dbSNP gnomAD v3 gnomAD v4
2g.227008201_227008204delCA915941765COL4A4c.230_233del (p.Leu77ProfsTer8)
c.4628_4631del (p.Leu1543ProfsTer8)
c.4073_4076del (p.Leu1358ProfsTer8)
c.4439_4442del (p.Leu1480ProfsTer8)
c.4216+13849_4216+13852del (n.4216+13849_4216+13852del)
c.4547_4550del (p.Leu1516ProfsTer8)
c.4520_4523del (p.Leu1507ProfsTer8)
c.4374_4377del (p.Gly1459SerfsTer?)
c.4257_4260del (p.Gly1420SerfsTer?)
c.2954_2957del (p.Leu985ProfsTer8)
n.4938_4941del
n.4526+13849_4526+13852del
c.4511_4514del (p.Leu1504ProfsTer8)
n.4954_4957del
n.4700_4703del
n.4542+13849_4542+13852del
 ClinVar dbSNP
2g.227008197C>ACA351140806COL4A4c.232G>T (p.Ala78Ser)
c.4630G>T (p.Ala1544Ser)
c.4075G>T (p.Ala1359Ser)
c.4441G>T (p.Ala1481Ser)
c.4216+13851G>T (n.4216+13851G>T)
c.4549G>T (p.Ala1517Ser)
c.4522G>T (p.Ala1508Ser)
c.4376G>T (p.Gly1459Val)
c.4259G>T (p.Gly1420Val)
c.2956G>T (p.Ala986Ser)
n.4940G>T
n.4526+13851G>T
c.4513G>T (p.Ala1505Ser)
n.4956G>T
n.4702G>T
n.4542+13851G>T
2g.227008197C=CA1332723958COL4A4c.232G= (p.Ala78=)
c.4630G= (p.Ala1544=)
c.4075G= (p.Ala1359=)
c.4441G= (p.Ala1481=)
c.4216+13851G= (n.4216+13851G=)
c.4549G= (p.Ala1517=)
c.4522G= (p.Ala1508=)
c.4376G= (p.Gly1459=)
c.4259G= (p.Gly1420=)
c.2956G= (p.Ala986=)
n.4940G=
n.4526+13851G=
c.4513G= (p.Ala1505=)
n.4956G=
n.4702G=
n.4542+13851G=
2g.227008197C>GCA351140807COL4A4c.232G>C (p.Ala78Pro)
c.4630G>C (p.Ala1544Pro)
c.4075G>C (p.Ala1359Pro)
c.4441G>C (p.Ala1481Pro)
c.4216+13851G>C (n.4216+13851G>C)
c.4549G>C (p.Ala1517Pro)
c.4522G>C (p.Ala1508Pro)
c.4376G>C (p.Gly1459Ala)
c.4259G>C (p.Gly1420Ala)
c.2956G>C (p.Ala986Pro)
n.4940G>C
n.4526+13851G>C
c.4513G>C (p.Ala1505Pro)
n.4956G>C
n.4702G>C
n.4542+13851G>C
 gnomAD v4
2g.227008197C>TCA2144114COL4A4c.232G>A (p.Ala78Thr)
c.4630G>A (p.Ala1544Thr)
c.4075G>A (p.Ala1359Thr)
c.4441G>A (p.Ala1481Thr)
c.4216+13851G>A (n.4216+13851G>A)
c.4549G>A (p.Ala1517Thr)
c.4522G>A (p.Ala1508Thr)
c.4376G>A (p.Gly1459Asp)
c.4259G>A (p.Gly1420Asp)
c.2956G>A (p.Ala986Thr)
n.4940G>A
n.4526+13851G>A
c.4513G>A (p.Ala1505Thr)
n.4956G>A
n.4702G>A
n.4542+13851G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227008198C>ACA431671953COL4A4c.231G>T (p.Leu77=)
c.4629G>T (p.Leu1543=)
c.4074G>T (p.Leu1358=)
c.4440G>T (p.Leu1480=)
c.4216+13850G>T (n.4216+13850G>T)
c.4548G>T (p.Leu1516=)
c.4521G>T (p.Leu1507=)
c.4375G>T (p.Gly1459Cys)
c.4258G>T (p.Gly1420Cys)
c.2955G>T (p.Leu985=)
n.4939G>T
n.4526+13850G>T
c.4512G>T (p.Leu1504=)
n.4955G>T
n.4701G>T
n.4542+13850G>T
2g.227008198C>GCA431671954COL4A4c.231G>C (p.Leu77=)
c.4629G>C (p.Leu1543=)
c.4074G>C (p.Leu1358=)
c.4440G>C (p.Leu1480=)
c.4216+13850G>C (n.4216+13850G>C)
c.4548G>C (p.Leu1516=)
c.4521G>C (p.Leu1507=)
c.4375G>C (p.Gly1459Arg)
c.4258G>C (p.Gly1420Arg)
c.2955G>C (p.Leu985=)
n.4939G>C
n.4526+13850G>C
c.4512G>C (p.Leu1504=)
n.4955G>C
n.4701G>C
n.4542+13850G>C
2g.227008198C>TCA431671955COL4A4c.231G>A (p.Leu77=)
c.4629G>A (p.Leu1543=)
c.4074G>A (p.Leu1358=)
c.4440G>A (p.Leu1480=)
c.4216+13850G>A (n.4216+13850G>A)
c.4548G>A (p.Leu1516=)
c.4521G>A (p.Leu1507=)
c.4375G>A (p.Gly1459Ser)
c.4258G>A (p.Gly1420Ser)
c.2955G>A (p.Leu985=)
n.4939G>A
n.4526+13850G>A
c.4512G>A (p.Leu1504=)
n.4955G>A
n.4701G>A
n.4542+13850G>A
2g.227008199A>CCA351140808COL4A4c.230T>G (p.Leu77Arg)
c.4628T>G (p.Leu1543Arg)
c.4073T>G (p.Leu1358Arg)
c.4439T>G (p.Leu1480Arg)
c.4216+13849T>G (n.4216+13849T>G)
c.4547T>G (p.Leu1516Arg)
c.4520T>G (p.Leu1507Arg)
c.4374T>G (p.Ala1458=)
c.4257T>G (p.Ala1419=)
c.2954T>G (p.Leu985Arg)
n.4938T>G
n.4526+13849T>G
c.4511T>G (p.Leu1504Arg)
n.4954T>G
n.4700T>G
n.4542+13849T>G
2g.227008199A>GCA351140809COL4A4c.230T>C (p.Leu77Pro)
c.4628T>C (p.Leu1543Pro)
c.4073T>C (p.Leu1358Pro)
c.4439T>C (p.Leu1480Pro)
c.4216+13849T>C (n.4216+13849T>C)
c.4547T>C (p.Leu1516Pro)
c.4520T>C (p.Leu1507Pro)
c.4374T>C (p.Ala1458=)
c.4257T>C (p.Ala1419=)
c.2954T>C (p.Leu985Pro)
n.4938T>C
n.4526+13849T>C
c.4511T>C (p.Leu1504Pro)
n.4954T>C
n.4700T>C
n.4542+13849T>C
2g.227008199A>TCA351140810COL4A4c.230T>A (p.Leu77Gln)
c.4628T>A (p.Leu1543Gln)
c.4073T>A (p.Leu1358Gln)
c.4439T>A (p.Leu1480Gln)
c.4216+13849T>A (n.4216+13849T>A)
c.4547T>A (p.Leu1516Gln)
c.4520T>A (p.Leu1507Gln)
c.4374T>A (p.Ala1458=)
c.4257T>A (p.Ala1419=)
c.2954T>A (p.Leu985Gln)
n.4938T>A
n.4526+13849T>A
c.4511T>A (p.Leu1504Gln)
n.4954T>A
n.4700T>A
n.4542+13849T>A
 gnomAD v4
2g.227008200G>ACA431671956COL4A4c.229C>T (p.Leu77=)
c.4627C>T (p.Leu1543=)
c.4072C>T (p.Leu1358=)
c.4438C>T (p.Leu1480=)
c.4216+13848C>T (n.4216+13848C>T)
c.4546C>T (p.Leu1516=)
c.4519C>T (p.Leu1507=)
c.4373C>T (p.Ala1458Val)
c.4256C>T (p.Ala1419Val)
c.2953C>T (p.Leu985=)
n.4937C>T
n.4526+13848C>T
c.4510C>T (p.Leu1504=)
n.4953C>T
n.4699C>T
n.4542+13848C>T
2g.227008200G>CCA351140811COL4A4c.229C>G (p.Leu77Val)
c.4627C>G (p.Leu1543Val)
c.4072C>G (p.Leu1358Val)
c.4438C>G (p.Leu1480Val)
c.4216+13848C>G (n.4216+13848C>G)
c.4546C>G (p.Leu1516Val)
c.4519C>G (p.Leu1507Val)
c.4373C>G (p.Ala1458Gly)
c.4256C>G (p.Ala1419Gly)
c.2953C>G (p.Leu985Val)
n.4937C>G
n.4526+13848C>G
c.4510C>G (p.Leu1504Val)
n.4953C>G
n.4699C>G
n.4542+13848C>G
2g.227008200G>TCA351140812COL4A4c.229C>A (p.Leu77Met)
c.4627C>A (p.Leu1543Met)
c.4072C>A (p.Leu1358Met)
c.4438C>A (p.Leu1480Met)
c.4216+13848C>A (n.4216+13848C>A)
c.4546C>A (p.Leu1516Met)
c.4519C>A (p.Leu1507Met)
c.4373C>A (p.Ala1458Asp)
c.4256C>A (p.Ala1419Asp)
c.2953C>A (p.Leu985Met)
n.4937C>A
n.4526+13848C>A
c.4510C>A (p.Leu1504Met)
n.4953C>A
n.4699C>A
n.4542+13848C>A
2g.227008201C>ACA351140813COL4A4c.228G>T (p.Trp76Cys)
c.4626G>T (p.Trp1542Cys)
c.4071G>T (p.Trp1357Cys)
c.4437G>T (p.Trp1479Cys)
c.4216+13847G>T (n.4216+13847G>T)
c.4545G>T (p.Trp1515Cys)
c.4518G>T (p.Trp1506Cys)
c.4372G>T (p.Ala1458Ser)
c.4255G>T (p.Ala1419Ser)
c.2952G>T (p.Trp984Cys)
n.4936G>T
n.4526+13847G>T
c.4509G>T (p.Trp1503Cys)
n.4952G>T
n.4698G>T
n.4542+13847G>T
2g.227008201C>GCA351140815COL4A4c.228G>C (p.Trp76Cys)
c.4626G>C (p.Trp1542Cys)
c.4071G>C (p.Trp1357Cys)
c.4437G>C (p.Trp1479Cys)
c.4216+13847G>C (n.4216+13847G>C)
c.4545G>C (p.Trp1515Cys)
c.4518G>C (p.Trp1506Cys)
c.4372G>C (p.Ala1458Pro)
c.4255G>C (p.Ala1419Pro)
c.2952G>C (p.Trp984Cys)
n.4936G>C
n.4526+13847G>C
c.4509G>C (p.Trp1503Cys)
n.4952G>C
n.4698G>C
n.4542+13847G>C
2g.227008201C>TCA351140814COL4A4c.228G>A (p.Trp76Ter)
c.4626G>A (p.Trp1542Ter)
c.4071G>A (p.Trp1357Ter)
c.4437G>A (p.Trp1479Ter)
c.4216+13847G>A (n.4216+13847G>A)
c.4545G>A (p.Trp1515Ter)
c.4518G>A (p.Trp1506Ter)
c.4372G>A (p.Ala1458Thr)
c.4255G>A (p.Ala1419Thr)
c.2952G>A (p.Trp984Ter)
n.4936G>A
n.4526+13847G>A
c.4509G>A (p.Trp1503Ter)
n.4952G>A
n.4698G>A
n.4542+13847G>A
2g.227008202C>ACA351140816COL4A4c.227G>T (p.Trp76Leu)
c.4625G>T (p.Trp1542Leu)
c.4070G>T (p.Trp1357Leu)
c.4436G>T (p.Trp1479Leu)
c.4216+13846G>T (n.4216+13846G>T)
c.4544G>T (p.Trp1515Leu)
c.4517G>T (p.Trp1506Leu)
c.4371G>T (p.Leu1457=)
c.4254G>T (p.Leu1418=)
c.2951G>T (p.Trp984Leu)
n.4935G>T
n.4526+13846G>T
c.4508G>T (p.Trp1503Leu)
n.4951G>T
n.4697G>T
n.4542+13846G>T
2g.227008202C=CA1332723959COL4A4c.227G= (p.Trp76=)
c.4625G= (p.Trp1542=)
c.4070G= (p.Trp1357=)
c.4436G= (p.Trp1479=)
c.4216+13846G= (n.4216+13846G=)
c.4544G= (p.Trp1515=)
c.4517G= (p.Trp1506=)
c.4371G= (p.Leu1457=)
c.4254G= (p.Leu1418=)
c.2951G= (p.Trp984=)
n.4935G=
n.4526+13846G=
c.4508G= (p.Trp1503=)
n.4951G=
n.4697G=
n.4542+13846G=
2g.227008202C>GCA351140817COL4A4c.227G>C (p.Trp76Ser)
c.4625G>C (p.Trp1542Ser)
c.4070G>C (p.Trp1357Ser)
c.4436G>C (p.Trp1479Ser)
c.4216+13846G>C (n.4216+13846G>C)
c.4544G>C (p.Trp1515Ser)
c.4517G>C (p.Trp1506Ser)
c.4371G>C (p.Leu1457=)
c.4254G>C (p.Leu1418=)
c.2951G>C (p.Trp984Ser)
n.4935G>C
n.4526+13846G>C
c.4508G>C (p.Trp1503Ser)
n.4951G>C
n.4697G>C
n.4542+13846G>C
2g.227008202C>TCA351140818COL4A4c.227G>A (p.Trp76Ter)
c.4625G>A (p.Trp1542Ter)
c.4070G>A (p.Trp1357Ter)
c.4436G>A (p.Trp1479Ter)
c.4216+13846G>A (n.4216+13846G>A)
c.4544G>A (p.Trp1515Ter)
c.4517G>A (p.Trp1506Ter)
c.4371G>A (p.Leu1457=)
c.4254G>A (p.Leu1418=)
c.2951G>A (p.Trp984Ter)
n.4935G>A
n.4526+13846G>A
c.4508G>A (p.Trp1503Ter)
n.4951G>A
n.4697G>A
n.4542+13846G>A
2g.227008203A=CA1332723960COL4A4c.226T= (p.Trp76=)
c.4624T= (p.Trp1542=)
c.4069T= (p.Trp1357=)
c.4435T= (p.Trp1479=)
c.4216+13845T= (n.4216+13845T=)
c.4543T= (p.Trp1515=)
c.4516T= (p.Trp1506=)
c.4370T= (p.Leu1457=)
c.4253T= (p.Leu1418=)
c.2950T= (p.Trp984=)
n.4934T=
n.4526+13845T=
c.4507T= (p.Trp1503=)
n.4950T=
n.4696T=
n.4542+13845T=
2g.227008203A>CCA351140819COL4A4c.226T>G (p.Trp76Gly)
c.4624T>G (p.Trp1542Gly)
c.4069T>G (p.Trp1357Gly)
c.4435T>G (p.Trp1479Gly)
c.4216+13845T>G (n.4216+13845T>G)
c.4543T>G (p.Trp1515Gly)
c.4516T>G (p.Trp1506Gly)
c.4370T>G (p.Leu1457Arg)
c.4253T>G (p.Leu1418Arg)
c.2950T>G (p.Trp984Gly)
n.4934T>G
n.4526+13845T>G
c.4507T>G (p.Trp1503Gly)
n.4950T>G
n.4696T>G
n.4542+13845T>G
2g.227008203A>GCA351140820COL4A4c.226T>C (p.Trp76Arg)
c.4624T>C (p.Trp1542Arg)
c.4069T>C (p.Trp1357Arg)
c.4435T>C (p.Trp1479Arg)
c.4216+13845T>C (n.4216+13845T>C)
c.4543T>C (p.Trp1515Arg)
c.4516T>C (p.Trp1506Arg)
c.4370T>C (p.Leu1457Pro)
c.4253T>C (p.Leu1418Pro)
c.2950T>C (p.Trp984Arg)
n.4934T>C
n.4526+13845T>C
c.4507T>C (p.Trp1503Arg)
n.4950T>C
n.4696T>C
n.4542+13845T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227008203A>TCA351140821COL4A4c.226T>A (p.Trp76Arg)
c.4624T>A (p.Trp1542Arg)
c.4069T>A (p.Trp1357Arg)
c.4435T>A (p.Trp1479Arg)
c.4216+13845T>A (n.4216+13845T>A)
c.4543T>A (p.Trp1515Arg)
c.4516T>A (p.Trp1506Arg)
c.4370T>A (p.Leu1457Gln)
c.4253T>A (p.Leu1418Gln)
c.2950T>A (p.Trp984Arg)
n.4934T>A
n.4526+13845T>A
c.4507T>A (p.Trp1503Arg)
n.4950T>A
n.4696T>A
n.4542+13845T>A
2g.227008203_227008206dupCA658821839COL4A4c.223_226dup (p.Trp76LeufsTer16)
c.4621_4624dup (p.Trp1542LeufsTer16)
c.4066_4069dup (p.Trp1357LeufsTer16)
c.4432_4435dup (p.Trp1479LeufsTer16)
c.4216+13842_4216+13845dup (n.4216+13842_4216+13845dup)
c.4540_4543dup (p.Trp1515LeufsTer16)
c.4513_4516dup (p.Trp1506LeufsTer16)
c.4367_4370dup (p.Ala1458ThrfsTer11)
c.4250_4253dup (p.Ala1419ThrfsTer11)
c.2947_2950dup (p.Trp984LeufsTer16)
n.4931_4934dup
n.4526+13842_4526+13845dup
c.4504_4507dup (p.Trp1503LeufsTer16)
n.4947_4950dup
n.4693_4696dup
n.4542+13842_4542+13845dup
 ClinVar dbSNP gnomAD v4
2g.227008204G>ACA431671959COL4A4c.225C>T (p.Tyr75=)
c.4623C>T (p.Tyr1541=)
c.4068C>T (p.Tyr1356=)
c.4434C>T (p.Tyr1478=)
c.4216+13844C>T (n.4216+13844C>T)
c.4542C>T (p.Tyr1514=)
c.4515C>T (p.Tyr1505=)
c.4369C>T (p.Leu1457=)
c.4252C>T (p.Leu1418=)
c.2949C>T (p.Tyr983=)
n.4933C>T
n.4526+13844C>T
c.4506C>T (p.Tyr1502=)
n.4949C>T
n.4695C>T
n.4542+13844C>T
2g.227008204G>CCA67238300COL4A4c.225C>G (p.Tyr75Ter)
c.4623C>G (p.Tyr1541Ter)
c.4068C>G (p.Tyr1356Ter)
c.4434C>G (p.Tyr1478Ter)
c.4216+13844C>G (n.4216+13844C>G)
c.4542C>G (p.Tyr1514Ter)
c.4515C>G (p.Tyr1505Ter)
c.4369C>G (p.Leu1457Val)
c.4252C>G (p.Leu1418Val)
c.2949C>G (p.Tyr983Ter)
n.4933C>G
n.4526+13844C>G
c.4506C>G (p.Tyr1502Ter)
n.4949C>G
n.4695C>G
n.4542+13844C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008204G=CA1332723961COL4A4c.225C= (p.Tyr75=)
c.4623C= (p.Tyr1541=)
c.4068C= (p.Tyr1356=)
c.4434C= (p.Tyr1478=)
c.4216+13844C= (n.4216+13844C=)
c.4542C= (p.Tyr1514=)
c.4515C= (p.Tyr1505=)
c.4369C= (p.Leu1457=)
c.4252C= (p.Leu1418=)
c.2949C= (p.Tyr983=)
n.4933C=
n.4526+13844C=
c.4506C= (p.Tyr1502=)
n.4949C=
n.4695C=
n.4542+13844C=
2g.227008204G>TCA351140822COL4A4c.225C>A (p.Tyr75Ter)
c.4623C>A (p.Tyr1541Ter)
c.4068C>A (p.Tyr1356Ter)
c.4434C>A (p.Tyr1478Ter)
c.4216+13844C>A (n.4216+13844C>A)
c.4542C>A (p.Tyr1514Ter)
c.4515C>A (p.Tyr1505Ter)
c.4369C>A (p.Leu1457Met)
c.4252C>A (p.Leu1418Met)
c.2949C>A (p.Tyr983Ter)
n.4933C>A
n.4526+13844C>A
c.4506C>A (p.Tyr1502Ter)
n.4949C>A
n.4695C>A
n.4542+13844C>A
2g.227008205T>ACA351140823COL4A4c.224A>T (p.Tyr75Phe)
c.4622A>T (p.Tyr1541Phe)
c.4067A>T (p.Tyr1356Phe)
c.4433A>T (p.Tyr1478Phe)
c.4216+13843A>T (n.4216+13843A>T)
c.4541A>T (p.Tyr1514Phe)
c.4514A>T (p.Tyr1505Phe)
c.4368A>T (p.Leu1456=)
c.4251A>T (p.Leu1417=)
c.2948A>T (p.Tyr983Phe)
n.4932A>T
n.4526+13843A>T
c.4505A>T (p.Tyr1502Phe)
n.4948A>T
n.4694A>T
n.4542+13843A>T
2g.227008205T>CCA351140824COL4A4c.224A>G (p.Tyr75Cys)
c.4622A>G (p.Tyr1541Cys)
c.4067A>G (p.Tyr1356Cys)
c.4433A>G (p.Tyr1478Cys)
c.4216+13843A>G (n.4216+13843A>G)
c.4541A>G (p.Tyr1514Cys)
c.4514A>G (p.Tyr1505Cys)
c.4368A>G (p.Leu1456=)
c.4251A>G (p.Leu1417=)
c.2948A>G (p.Tyr983Cys)
n.4932A>G
n.4526+13843A>G
c.4505A>G (p.Tyr1502Cys)
n.4948A>G
n.4694A>G
n.4542+13843A>G
2g.227008205T>GCA351140825COL4A4c.224A>C (p.Tyr75Ser)
c.4622A>C (p.Tyr1541Ser)
c.4067A>C (p.Tyr1356Ser)
c.4433A>C (p.Tyr1478Ser)
c.4216+13843A>C (n.4216+13843A>C)
c.4541A>C (p.Tyr1514Ser)
c.4514A>C (p.Tyr1505Ser)
c.4368A>C (p.Leu1456=)
c.4251A>C (p.Leu1417=)
c.2948A>C (p.Tyr983Ser)
n.4932A>C
n.4526+13843A>C
c.4505A>C (p.Tyr1502Ser)
n.4948A>C
n.4694A>C
n.4542+13843A>C
2g.227008206A>CCA351140828COL4A4c.223T>G (p.Tyr75Asp)
c.4621T>G (p.Tyr1541Asp)
c.4066T>G (p.Tyr1356Asp)
c.4432T>G (p.Tyr1478Asp)
c.4216+13842T>G (n.4216+13842T>G)
c.4540T>G (p.Tyr1514Asp)
c.4513T>G (p.Tyr1505Asp)
c.4367T>G (p.Leu1456Arg)
c.4250T>G (p.Leu1417Arg)
c.2947T>G (p.Tyr983Asp)
n.4931T>G
n.4526+13842T>G
c.4504T>G (p.Tyr1502Asp)
n.4947T>G
n.4693T>G
n.4542+13842T>G
2g.227008206A>GCA351140827COL4A4c.223T>C (p.Tyr75His)
c.4621T>C (p.Tyr1541His)
c.4066T>C (p.Tyr1356His)
c.4432T>C (p.Tyr1478His)
c.4216+13842T>C (n.4216+13842T>C)
c.4540T>C (p.Tyr1514His)
c.4513T>C (p.Tyr1505His)
c.4367T>C (p.Leu1456Pro)
c.4250T>C (p.Leu1417Pro)
c.2947T>C (p.Tyr983His)
n.4931T>C
n.4526+13842T>C
c.4504T>C (p.Tyr1502His)
n.4947T>C
n.4693T>C
n.4542+13842T>C
2g.227008206A>TCA351140826COL4A4c.223T>A (p.Tyr75Asn)
c.4621T>A (p.Tyr1541Asn)
c.4066T>A (p.Tyr1356Asn)
c.4432T>A (p.Tyr1478Asn)
c.4216+13842T>A (n.4216+13842T>A)
c.4540T>A (p.Tyr1514Asn)
c.4513T>A (p.Tyr1505Asn)
c.4367T>A (p.Leu1456Gln)
c.4250T>A (p.Leu1417Gln)
c.2947T>A (p.Tyr983Asn)
n.4931T>A
n.4526+13842T>A
c.4504T>A (p.Tyr1502Asn)
n.4947T>A
n.4693T>A
n.4542+13842T>A
2g.227008207G>ACA431671963COL4A4c.222C>T (p.Ser74=)
c.4620C>T (p.Ser1540=)
c.4065C>T (p.Ser1355=)
c.4431C>T (p.Ser1477=)
c.4216+13841C>T (n.4216+13841C>T)
c.4539C>T (p.Ser1513=)
c.4512C>T (p.Ser1504=)
c.4366C>T (p.Leu1456=)
c.4249C>T (p.Leu1417=)
c.2946C>T (p.Ser982=)
n.4930C>T
n.4526+13841C>T
c.4503C>T (p.Ser1501=)
n.4946C>T
n.4692C>T
n.4542+13841C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227008207G>CCA431671964COL4A4c.222C>G (p.Ser74=)
c.4620C>G (p.Ser1540=)
c.4065C>G (p.Ser1355=)
c.4431C>G (p.Ser1477=)
c.4216+13841C>G (n.4216+13841C>G)
c.4539C>G (p.Ser1513=)
c.4512C>G (p.Ser1504=)
c.4366C>G (p.Leu1456Val)
c.4249C>G (p.Leu1417Val)
c.2946C>G (p.Ser982=)
n.4930C>G
n.4526+13841C>G
c.4503C>G (p.Ser1501=)
n.4946C>G
n.4692C>G
n.4542+13841C>G
2g.227008207G=CA1332723962COL4A4c.222C= (p.Ser74=)
c.4620C= (p.Ser1540=)
c.4065C= (p.Ser1355=)
c.4431C= (p.Ser1477=)
c.4216+13841C= (n.4216+13841C=)
c.4539C= (p.Ser1513=)
c.4512C= (p.Ser1504=)
c.4366C= (p.Leu1456=)
c.4249C= (p.Leu1417=)
c.2946C= (p.Ser982=)
n.4930C=
n.4526+13841C=
c.4503C= (p.Ser1501=)
n.4946C=
n.4692C=
n.4542+13841C=
2g.227008207G>TCA431671965COL4A4c.222C>A (p.Ser74=)
c.4620C>A (p.Ser1540=)
c.4065C>A (p.Ser1355=)
c.4431C>A (p.Ser1477=)
c.4216+13841C>A (n.4216+13841C>A)
c.4539C>A (p.Ser1513=)
c.4512C>A (p.Ser1504=)
c.4366C>A (p.Leu1456Ile)
c.4249C>A (p.Leu1417Ile)
c.2946C>A (p.Ser982=)
n.4930C>A
n.4526+13841C>A
c.4503C>A (p.Ser1501=)
n.4946C>A
n.4692C>A
n.4542+13841C>A
2g.227008208G>ACA351140829COL4A4c.221C>T (p.Ser74Phe)
c.4619C>T (p.Ser1540Phe)
c.4064C>T (p.Ser1355Phe)
c.4430C>T (p.Ser1477Phe)
c.4216+13840C>T (n.4216+13840C>T)
c.4538C>T (p.Ser1513Phe)
c.4511C>T (p.Ser1504Phe)
c.4365C>T (p.Ile1455=)
c.4248C>T (p.Ile1416=)
c.2945C>T (p.Ser982Phe)
n.4929C>T
n.4526+13840C>T
c.4502C>T (p.Ser1501Phe)
n.4945C>T
n.4691C>T
n.4542+13840C>T
2g.227008208G>CCA351140830COL4A4c.221C>G (p.Ser74Cys)
c.4619C>G (p.Ser1540Cys)
c.4064C>G (p.Ser1355Cys)
c.4430C>G (p.Ser1477Cys)
c.4216+13840C>G (n.4216+13840C>G)
c.4538C>G (p.Ser1513Cys)
c.4511C>G (p.Ser1504Cys)
c.4365C>G (p.Ile1455Met)
c.4248C>G (p.Ile1416Met)
c.2945C>G (p.Ser982Cys)
n.4929C>G
n.4526+13840C>G
c.4502C>G (p.Ser1501Cys)
n.4945C>G
n.4691C>G
n.4542+13840C>G
2g.227008208G>TCA351140831COL4A4c.221C>A (p.Ser74Tyr)
c.4619C>A (p.Ser1540Tyr)
c.4064C>A (p.Ser1355Tyr)
c.4430C>A (p.Ser1477Tyr)
c.4216+13840C>A (n.4216+13840C>A)
c.4538C>A (p.Ser1513Tyr)
c.4511C>A (p.Ser1504Tyr)
c.4365C>A (p.Ile1455=)
c.4248C>A (p.Ile1416=)
c.2945C>A (p.Ser982Tyr)
n.4929C>A
n.4526+13840C>A
c.4502C>A (p.Ser1501Tyr)
n.4945C>A
n.4691C>A
n.4542+13840C>A
2g.227008209A>CCA351140832COL4A4c.220T>G (p.Ser74Ala)
c.4618T>G (p.Ser1540Ala)
c.4063T>G (p.Ser1355Ala)
c.4429T>G (p.Ser1477Ala)
c.4216+13839T>G (n.4216+13839T>G)
c.4537T>G (p.Ser1513Ala)
c.4510T>G (p.Ser1504Ala)
c.4364T>G (p.Ile1455Ser)
c.4247T>G (p.Ile1416Ser)
c.2944T>G (p.Ser982Ala)
n.4928T>G
n.4526+13839T>G
c.4501T>G (p.Ser1501Ala)
n.4944T>G
n.4690T>G
n.4542+13839T>G
2g.227008209A>GCA351140833COL4A4c.220T>C (p.Ser74Pro)
c.4618T>C (p.Ser1540Pro)
c.4063T>C (p.Ser1355Pro)
c.4429T>C (p.Ser1477Pro)
c.4216+13839T>C (n.4216+13839T>C)
c.4537T>C (p.Ser1513Pro)
c.4510T>C (p.Ser1504Pro)
c.4364T>C (p.Ile1455Thr)
c.4247T>C (p.Ile1416Thr)
c.2944T>C (p.Ser982Pro)
n.4928T>C
n.4526+13839T>C
c.4501T>C (p.Ser1501Pro)
n.4944T>C
n.4690T>C
n.4542+13839T>C
2g.227008209A>TCA351140834COL4A4c.220T>A (p.Ser74Thr)
c.4618T>A (p.Ser1540Thr)
c.4063T>A (p.Ser1355Thr)
c.4429T>A (p.Ser1477Thr)
c.4216+13839T>A (n.4216+13839T>A)
c.4537T>A (p.Ser1513Thr)
c.4510T>A (p.Ser1504Thr)
c.4364T>A (p.Ile1455Asn)
c.4247T>A (p.Ile1416Asn)
c.2944T>A (p.Ser982Thr)
n.4928T>A
n.4526+13839T>A
c.4501T>A (p.Ser1501Thr)
n.4944T>A
n.4690T>A
n.4542+13839T>A
2g.227008210T>ACA351140835COL4A4c.219A>T (p.Arg73Ser)
c.4617A>T (p.Arg1539Ser)
c.4062A>T (p.Arg1354Ser)
c.4428A>T (p.Arg1476Ser)
c.4216+13838A>T (n.4216+13838A>T)
c.4536A>T (p.Arg1512Ser)
c.4509A>T (p.Arg1503Ser)
c.4363A>T (p.Ile1455Phe)
c.4246A>T (p.Ile1416Phe)
c.2943A>T (p.Arg981Ser)
n.4927A>T
n.4526+13838A>T
c.4500A>T (p.Arg1500Ser)
n.4943A>T
n.4689A>T
n.4542+13838A>T
2g.227008210T>CCA431671969COL4A4c.219A>G (p.Arg73=)
c.4617A>G (p.Arg1539=)
c.4062A>G (p.Arg1354=)
c.4428A>G (p.Arg1476=)
c.4216+13838A>G (n.4216+13838A>G)
c.4536A>G (p.Arg1512=)
c.4509A>G (p.Arg1503=)
c.4363A>G (p.Ile1455Val)
c.4246A>G (p.Ile1416Val)
c.2943A>G (p.Arg981=)
n.4927A>G
n.4526+13838A>G
c.4500A>G (p.Arg1500=)
n.4943A>G
n.4689A>G
n.4542+13838A>G
 COSMIC
2g.227008210T>GCA351140836COL4A4c.219A>C (p.Arg73Ser)
c.4617A>C (p.Arg1539Ser)
c.4062A>C (p.Arg1354Ser)
c.4428A>C (p.Arg1476Ser)
c.4216+13838A>C (n.4216+13838A>C)
c.4536A>C (p.Arg1512Ser)
c.4509A>C (p.Arg1503Ser)
c.4363A>C (p.Ile1455Leu)
c.4246A>C (p.Ile1416Leu)
c.2943A>C (p.Arg981Ser)
n.4927A>C
n.4526+13838A>C
c.4500A>C (p.Arg1500Ser)
n.4943A>C
n.4689A>C
n.4542+13838A>C
2g.227008211C>ACA351140837COL4A4c.218G>T (p.Arg73Ile)
c.4616G>T (p.Arg1539Ile)
c.4061G>T (p.Arg1354Ile)
c.4427G>T (p.Arg1476Ile)
c.4216+13837G>T (n.4216+13837G>T)
c.4535G>T (p.Arg1512Ile)
c.4508G>T (p.Arg1503Ile)
c.4362G>T (p.Gln1454His)
c.4245G>T (p.Gln1415His)
c.2942G>T (p.Arg981Ile)
n.4926G>T
n.4526+13837G>T
c.4499G>T (p.Arg1500Ile)
n.4942G>T
n.4688G>T
n.4542+13837G>T
 gnomAD v4
2g.227008211C=CA1332723963COL4A4c.218G= (p.Arg73=)
c.4616G= (p.Arg1539=)
c.4061G= (p.Arg1354=)
c.4427G= (p.Arg1476=)
c.4216+13837G= (n.4216+13837G=)
c.4535G= (p.Arg1512=)
c.4508G= (p.Arg1503=)
c.4362G= (p.Gln1454=)
c.4245G= (p.Gln1415=)
c.2942G= (p.Arg981=)
n.4926G=
n.4526+13837G=
c.4499G= (p.Arg1500=)
n.4942G=
n.4688G=
n.4542+13837G=
2g.227008211C>GCA351140838COL4A4c.218G>C (p.Arg73Thr)
c.4616G>C (p.Arg1539Thr)
c.4061G>C (p.Arg1354Thr)
c.4427G>C (p.Arg1476Thr)
c.4216+13837G>C (n.4216+13837G>C)
c.4535G>C (p.Arg1512Thr)
c.4508G>C (p.Arg1503Thr)
c.4362G>C (p.Gln1454His)
c.4245G>C (p.Gln1415His)
c.2942G>C (p.Arg981Thr)
n.4926G>C
n.4526+13837G>C
c.4499G>C (p.Arg1500Thr)
n.4942G>C
n.4688G>C
n.4542+13837G>C
2g.227008211C>TCA351140839COL4A4c.218G>A (p.Arg73Lys)
c.4616G>A (p.Arg1539Lys)
c.4061G>A (p.Arg1354Lys)
c.4427G>A (p.Arg1476Lys)
c.4216+13837G>A (n.4216+13837G>A)
c.4535G>A (p.Arg1512Lys)
c.4508G>A (p.Arg1503Lys)
c.4362G>A (p.Gln1454=)
c.4245G>A (p.Gln1415=)
c.2942G>A (p.Arg981Lys)
n.4926G>A
n.4526+13837G>A
c.4499G>A (p.Arg1500Lys)
n.4942G>A
n.4688G>A
n.4542+13837G>A
 dbSNP gnomAD v3 gnomAD v4
2g.227008212T>ACA351140840COL4A4c.217A>T (p.Arg73Ter)
c.4615A>T (p.Arg1539Ter)
c.4060A>T (p.Arg1354Ter)
c.4426A>T (p.Arg1476Ter)
c.4216+13836A>T (n.4216+13836A>T)
c.4534A>T (p.Arg1512Ter)
c.4507A>T (p.Arg1503Ter)
c.4361A>T (p.Gln1454Leu)
c.4244A>T (p.Gln1415Leu)
c.2941A>T (p.Arg981Ter)
n.4925A>T
n.4526+13836A>T
c.4498A>T (p.Arg1500Ter)
n.4941A>T
n.4687A>T
n.4542+13836A>T
2g.227008212T>CCA351140841COL4A4c.217A>G (p.Arg73Gly)
c.4615A>G (p.Arg1539Gly)
c.4060A>G (p.Arg1354Gly)
c.4426A>G (p.Arg1476Gly)
c.4216+13836A>G (n.4216+13836A>G)
c.4534A>G (p.Arg1512Gly)
c.4507A>G (p.Arg1503Gly)
c.4361A>G (p.Gln1454Arg)
c.4244A>G (p.Gln1415Arg)
c.2941A>G (p.Arg981Gly)
n.4925A>G
n.4526+13836A>G
c.4498A>G (p.Arg1500Gly)
n.4941A>G
n.4687A>G
n.4542+13836A>G
2g.227008212T>GCA431671973COL4A4c.217A>C (p.Arg73=)
c.4615A>C (p.Arg1539=)
c.4060A>C (p.Arg1354=)
c.4426A>C (p.Arg1476=)
c.4216+13836A>C (n.4216+13836A>C)
c.4534A>C (p.Arg1512=)
c.4507A>C (p.Arg1503=)
c.4361A>C (p.Gln1454Pro)
c.4244A>C (p.Gln1415Pro)
c.2941A>C (p.Arg981=)
n.4925A>C
n.4526+13836A>C
c.4498A>C (p.Arg1500=)
n.4941A>C
n.4687A>C
n.4542+13836A>C
2g.227008213G>ACA431671974COL4A4c.216C>T (p.Asp72=)
c.4614C>T (p.Asp1538=)
c.4059C>T (p.Asp1353=)
c.4425C>T (p.Asp1475=)
c.4216+13835C>T (n.4216+13835C>T)
c.4533C>T (p.Asp1511=)
c.4506C>T (p.Asp1502=)
c.4360C>T (p.Gln1454Ter)
c.4243C>T (p.Gln1415Ter)
c.2940C>T (p.Asp980=)
n.4924C>T
n.4526+13835C>T
c.4497C>T (p.Asp1499=)
n.4940C>T
n.4686C>T
n.4542+13835C>T
2g.227008213G>CCA351140842COL4A4c.216C>G (p.Asp72Glu)
c.4614C>G (p.Asp1538Glu)
c.4059C>G (p.Asp1353Glu)
c.4425C>G (p.Asp1475Glu)
c.4216+13835C>G (n.4216+13835C>G)
c.4533C>G (p.Asp1511Glu)
c.4506C>G (p.Asp1502Glu)
c.4360C>G (p.Gln1454Glu)
c.4243C>G (p.Gln1415Glu)
c.2940C>G (p.Asp980Glu)
n.4924C>G
n.4526+13835C>G
c.4497C>G (p.Asp1499Glu)
n.4940C>G
n.4686C>G
n.4542+13835C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008213G=CA1332723964COL4A4c.216C= (p.Asp72=)
c.4614C= (p.Asp1538=)
c.4059C= (p.Asp1353=)
c.4425C= (p.Asp1475=)
c.4216+13835C= (n.4216+13835C=)
c.4533C= (p.Asp1511=)
c.4506C= (p.Asp1502=)
c.4360C= (p.Gln1454=)
c.4243C= (p.Gln1415=)
c.2940C= (p.Asp980=)
n.4924C=
n.4526+13835C=
c.4497C= (p.Asp1499=)
n.4940C=
n.4686C=
n.4542+13835C=
2g.227008213G>TCA351140843COL4A4c.216C>A (p.Asp72Glu)
c.4614C>A (p.Asp1538Glu)
c.4059C>A (p.Asp1353Glu)
c.4425C>A (p.Asp1475Glu)
c.4216+13835C>A (n.4216+13835C>A)
c.4533C>A (p.Asp1511Glu)
c.4506C>A (p.Asp1502Glu)
c.4360C>A (p.Gln1454Lys)
c.4243C>A (p.Gln1415Lys)
c.2940C>A (p.Asp980Glu)
n.4924C>A
n.4526+13835C>A
c.4497C>A (p.Asp1499Glu)
n.4940C>A
n.4686C>A
n.4542+13835C>A
2g.227008214T>ACA351140844COL4A4c.215A>T (p.Asp72Val)
c.4613A>T (p.Asp1538Val)
c.4058A>T (p.Asp1353Val)
c.4424A>T (p.Asp1475Val)
c.4216+13834A>T (n.4216+13834A>T)
c.4532A>T (p.Asp1511Val)
c.4505A>T (p.Asp1502Val)
c.4359A>T (p.Arg1453=)
c.4242A>T (p.Arg1414=)
c.2939A>T (p.Asp980Val)
n.4923A>T
n.4526+13834A>T
c.4496A>T (p.Asp1499Val)
n.4939A>T
n.4685A>T
n.4542+13834A>T
2g.227008214T>CCA351140845COL4A4c.215A>G (p.Asp72Gly)
c.4613A>G (p.Asp1538Gly)
c.4058A>G (p.Asp1353Gly)
c.4424A>G (p.Asp1475Gly)
c.4216+13834A>G (n.4216+13834A>G)
c.4532A>G (p.Asp1511Gly)
c.4505A>G (p.Asp1502Gly)
c.4359A>G (p.Arg1453=)
c.4242A>G (p.Arg1414=)
c.2939A>G (p.Asp980Gly)
n.4923A>G
n.4526+13834A>G
c.4496A>G (p.Asp1499Gly)
n.4939A>G
n.4685A>G
n.4542+13834A>G
2g.227008214T>GCA351140846COL4A4c.215A>C (p.Asp72Ala)
c.4613A>C (p.Asp1538Ala)
c.4058A>C (p.Asp1353Ala)
c.4424A>C (p.Asp1475Ala)
c.4216+13834A>C (n.4216+13834A>C)
c.4532A>C (p.Asp1511Ala)
c.4505A>C (p.Asp1502Ala)
c.4359A>C (p.Arg1453=)
c.4242A>C (p.Arg1414=)
c.2939A>C (p.Asp980Ala)
n.4923A>C
n.4526+13834A>C
c.4496A>C (p.Asp1499Ala)
n.4939A>C
n.4685A>C
n.4542+13834A>C
2g.227008215C>ACA351140847COL4A4c.214G>T (p.Asp72Tyr)
c.4612G>T (p.Asp1538Tyr)
c.4057G>T (p.Asp1353Tyr)
c.4423G>T (p.Asp1475Tyr)
c.4216+13833G>T (n.4216+13833G>T)
c.4531G>T (p.Asp1511Tyr)
c.4504G>T (p.Asp1502Tyr)
c.4358G>T (p.Arg1453Leu)
c.4241G>T (p.Arg1414Leu)
c.2938G>T (p.Asp980Tyr)
n.4922G>T
n.4526+13833G>T
c.4495G>T (p.Asp1499Tyr)
n.4938G>T
n.4684G>T
n.4542+13833G>T
2g.227008215C=CA1332723965COL4A4c.214G= (p.Asp72=)
c.4612G= (p.Asp1538=)
c.4057G= (p.Asp1353=)
c.4423G= (p.Asp1475=)
c.4216+13833G= (n.4216+13833G=)
c.4531G= (p.Asp1511=)
c.4504G= (p.Asp1502=)
c.4358G= (p.Arg1453=)
c.4241G= (p.Arg1414=)
c.2938G= (p.Asp980=)
n.4922G=
n.4526+13833G=
c.4495G= (p.Asp1499=)
n.4938G=
n.4684G=
n.4542+13833G=
2g.227008215C>GCA351140848COL4A4c.214G>C (p.Asp72His)
c.4612G>C (p.Asp1538His)
c.4057G>C (p.Asp1353His)
c.4423G>C (p.Asp1475His)
c.4216+13833G>C (n.4216+13833G>C)
c.4531G>C (p.Asp1511His)
c.4504G>C (p.Asp1502His)
c.4358G>C (p.Arg1453Pro)
c.4241G>C (p.Arg1414Pro)
c.2938G>C (p.Asp980His)
n.4922G>C
n.4526+13833G>C
c.4495G>C (p.Asp1499His)
n.4938G>C
n.4684G>C
n.4542+13833G>C
2g.227008215C>TCA2144115COL4A4c.214G>A (p.Asp72Asn)
c.4612G>A (p.Asp1538Asn)
c.4057G>A (p.Asp1353Asn)
c.4423G>A (p.Asp1475Asn)
c.4216+13833G>A (n.4216+13833G>A)
c.4531G>A (p.Asp1511Asn)
c.4504G>A (p.Asp1502Asn)
c.4358G>A (p.Arg1453Gln)
c.4241G>A (p.Arg1414Gln)
c.2938G>A (p.Asp980Asn)
n.4922G>A
n.4526+13833G>A
c.4495G>A (p.Asp1499Asn)
n.4938G>A
n.4684G>A
n.4542+13833G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227008216G>ACA431671978COL4A4c.213C>T (p.Asn71=)
c.4611C>T (p.Asn1537=)
c.4056C>T (p.Asn1352=)
c.4422C>T (p.Asn1474=)
c.4216+13832C>T (n.4216+13832C>T)
c.4530C>T (p.Asn1510=)
c.4503C>T (p.Asn1501=)
c.4357C>T (p.Arg1453Ter)
c.4240C>T (p.Arg1414Ter)
c.2937C>T (p.Asn979=)
n.4921C>T
n.4526+13832C>T
c.4494C>T (p.Asn1498=)
n.4937C>T
n.4683C>T
n.4542+13832C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008216G>CCA351140849COL4A4c.213C>G (p.Asn71Lys)
c.4611C>G (p.Asn1537Lys)
c.4056C>G (p.Asn1352Lys)
c.4422C>G (p.Asn1474Lys)
c.4216+13832C>G (n.4216+13832C>G)
c.4530C>G (p.Asn1510Lys)
c.4503C>G (p.Asn1501Lys)
c.4357C>G (p.Arg1453Gly)
c.4240C>G (p.Arg1414Gly)
c.2937C>G (p.Asn979Lys)
n.4921C>G
n.4526+13832C>G
c.4494C>G (p.Asn1498Lys)
n.4937C>G
n.4683C>G
n.4542+13832C>G
 dbSNP gnomAD v2 gnomAD v4
2g.227008216G=CA1332723966COL4A4c.213C= (p.Asn71=)
c.4611C= (p.Asn1537=)
c.4056C= (p.Asn1352=)
c.4422C= (p.Asn1474=)
c.4216+13832C= (n.4216+13832C=)
c.4530C= (p.Asn1510=)
c.4503C= (p.Asn1501=)
c.4357C= (p.Arg1453=)
c.4240C= (p.Arg1414=)
c.2937C= (p.Asn979=)
n.4921C=
n.4526+13832C=
c.4494C= (p.Asn1498=)
n.4937C=
n.4683C=
n.4542+13832C=
2g.227008216G>TCA351140850COL4A4c.213C>A (p.Asn71Lys)
c.4611C>A (p.Asn1537Lys)
c.4056C>A (p.Asn1352Lys)
c.4422C>A (p.Asn1474Lys)
c.4216+13832C>A (n.4216+13832C>A)
c.4530C>A (p.Asn1510Lys)
c.4503C>A (p.Asn1501Lys)
c.4357C>A (p.Arg1453=)
c.4240C>A (p.Arg1414=)
c.2937C>A (p.Asn979Lys)
n.4921C>A
n.4526+13832C>A
c.4494C>A (p.Asn1498Lys)
n.4937C>A
n.4683C>A
n.4542+13832C>A
2g.227008217T>ACA351140851COL4A4c.212A>T (p.Asn71Ile)
c.4610A>T (p.Asn1537Ile)
c.4055A>T (p.Asn1352Ile)
c.4421A>T (p.Asn1474Ile)
c.4216+13831A>T (n.4216+13831A>T)
c.4529A>T (p.Asn1510Ile)
c.4502A>T (p.Asn1501Ile)
c.4356A>T (p.Lys1452Asn)
c.4239A>T (p.Lys1413Asn)
c.2936A>T (p.Asn979Ile)
n.4920A>T
n.4526+13831A>T
c.4493A>T (p.Asn1498Ile)
n.4936A>T
n.4682A>T
n.4542+13831A>T
2g.227008217T>CCA351140852COL4A4c.212A>G (p.Asn71Ser)
c.4610A>G (p.Asn1537Ser)
c.4055A>G (p.Asn1352Ser)
c.4421A>G (p.Asn1474Ser)
c.4216+13831A>G (n.4216+13831A>G)
c.4529A>G (p.Asn1510Ser)
c.4502A>G (p.Asn1501Ser)
c.4356A>G (p.Lys1452=)
c.4239A>G (p.Lys1413=)
c.2936A>G (p.Asn979Ser)
n.4920A>G
n.4526+13831A>G
c.4493A>G (p.Asn1498Ser)
n.4936A>G
n.4682A>G
n.4542+13831A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008217T>GCA351140853COL4A4c.212A>C (p.Asn71Thr)
c.4610A>C (p.Asn1537Thr)
c.4055A>C (p.Asn1352Thr)
c.4421A>C (p.Asn1474Thr)
c.4216+13831A>C (n.4216+13831A>C)
c.4529A>C (p.Asn1510Thr)
c.4502A>C (p.Asn1501Thr)
c.4356A>C (p.Lys1452Asn)
c.4239A>C (p.Lys1413Asn)
c.2936A>C (p.Asn979Thr)
n.4920A>C
n.4526+13831A>C
c.4493A>C (p.Asn1498Thr)
n.4936A>C
n.4682A>C
n.4542+13831A>C
2g.227008217T=CA1332723967COL4A4c.212A= (p.Asn71=)
c.4610A= (p.Asn1537=)
c.4055A= (p.Asn1352=)
c.4421A= (p.Asn1474=)
c.4216+13831A= (n.4216+13831A=)
c.4529A= (p.Asn1510=)
c.4502A= (p.Asn1501=)
c.4356A= (p.Lys1452=)
c.4239A= (p.Lys1413=)
c.2936A= (p.Asn979=)
n.4920A=
n.4526+13831A=
c.4493A= (p.Asn1498=)
n.4936A=
n.4682A=
n.4542+13831A=
2g.227008219dupCA916790153COL4A4c.212dup (p.Asn71LysfsTer20)
c.4610dup (p.Asn1537LysfsTer20)
c.4055dup (p.Asn1352LysfsTer20)
c.4421dup (p.Asn1474LysfsTer20)
c.4216+13831dup (n.4216+13831dup)
c.4529dup (p.Asn1510LysfsTer20)
c.4502dup (p.Asn1501LysfsTer20)
c.4356dup (p.Arg1453ThrfsTer15)
c.4239dup (p.Arg1414ThrfsTer15)
c.2936dup (p.Asn979LysfsTer20)
n.4920dup
n.4526+13831dup
c.4493dup (p.Asn1498LysfsTer20)
n.4936dup
n.4682dup
n.4542+13831dup
 dbSNP
2g.227008218T>ACA351140854COL4A4c.211A>T (p.Asn71Tyr)
c.4609A>T (p.Asn1537Tyr)
c.4054A>T (p.Asn1352Tyr)
c.4420A>T (p.Asn1474Tyr)
c.4216+13830A>T (n.4216+13830A>T)
c.4528A>T (p.Asn1510Tyr)
c.4501A>T (p.Asn1501Tyr)
c.4355A>T (p.Lys1452Ile)
c.4238A>T (p.Lys1413Ile)
c.2935A>T (p.Asn979Tyr)
n.4919A>T
n.4526+13830A>T
c.4492A>T (p.Asn1498Tyr)
n.4935A>T
n.4681A>T
n.4542+13830A>T
2g.227008218T>CCA351140855COL4A4c.211A>G (p.Asn71Asp)
c.4609A>G (p.Asn1537Asp)
c.4054A>G (p.Asn1352Asp)
c.4420A>G (p.Asn1474Asp)
c.4216+13830A>G (n.4216+13830A>G)
c.4528A>G (p.Asn1510Asp)
c.4501A>G (p.Asn1501Asp)
c.4355A>G (p.Lys1452Arg)
c.4238A>G (p.Lys1413Arg)
c.2935A>G (p.Asn979Asp)
n.4919A>G
n.4526+13830A>G
c.4492A>G (p.Asn1498Asp)
n.4935A>G
n.4681A>G
n.4542+13830A>G
2g.227008218T>GCA351140856COL4A4c.211A>C (p.Asn71His)
c.4609A>C (p.Asn1537His)
c.4054A>C (p.Asn1352His)
c.4420A>C (p.Asn1474His)
c.4216+13830A>C (n.4216+13830A>C)
c.4528A>C (p.Asn1510His)
c.4501A>C (p.Asn1501His)
c.4355A>C (p.Lys1452Thr)
c.4238A>C (p.Lys1413Thr)
c.2935A>C (p.Asn979His)
n.4919A>C
n.4526+13830A>C
c.4492A>C (p.Asn1498His)
n.4935A>C
n.4681A>C
n.4542+13830A>C
2g.227008219T>ACA351140857COL4A4c.210A>T (p.Arg70Ser)
c.4608A>T (p.Arg1536Ser)
c.4053A>T (p.Arg1351Ser)
c.4419A>T (p.Arg1473Ser)
c.4216+13829A>T (n.4216+13829A>T)
c.4527A>T (p.Arg1509Ser)
c.4500A>T (p.Arg1500Ser)
c.4354A>T (p.Lys1452Ter)
c.4237A>T (p.Lys1413Ter)
c.2934A>T (p.Arg978Ser)
n.4918A>T
n.4526+13829A>T
c.4491A>T (p.Arg1497Ser)
n.4934A>T
n.4680A>T
n.4542+13829A>T
2g.227008219T>CCA431671980COL4A4c.210A>G (p.Arg70=)
c.4608A>G (p.Arg1536=)
c.4053A>G (p.Arg1351=)
c.4419A>G (p.Arg1473=)
c.4216+13829A>G (n.4216+13829A>G)
c.4527A>G (p.Arg1509=)
c.4500A>G (p.Arg1500=)
c.4354A>G (p.Lys1452Glu)
c.4237A>G (p.Lys1413Glu)
c.2934A>G (p.Arg978=)
n.4918A>G
n.4526+13829A>G
c.4491A>G (p.Arg1497=)
n.4934A>G
n.4680A>G
n.4542+13829A>G
 ClinVar dbSNP gnomAD v2
2g.227008219T>GCA351140858COL4A4c.210A>C (p.Arg70Ser)
c.4608A>C (p.Arg1536Ser)
c.4053A>C (p.Arg1351Ser)
c.4419A>C (p.Arg1473Ser)
c.4216+13829A>C (n.4216+13829A>C)
c.4527A>C (p.Arg1509Ser)
c.4500A>C (p.Arg1500Ser)
c.4354A>C (p.Lys1452Gln)
c.4237A>C (p.Lys1413Gln)
c.2934A>C (p.Arg978Ser)
n.4918A>C
n.4526+13829A>C
c.4491A>C (p.Arg1497Ser)
n.4934A>C
n.4680A>C
n.4542+13829A>C
2g.227008219T=CA1332723968COL4A4c.210A= (p.Arg70=)
c.4608A= (p.Arg1536=)
c.4053A= (p.Arg1351=)
c.4419A= (p.Arg1473=)
c.4216+13829A= (n.4216+13829A=)
c.4527A= (p.Arg1509=)
c.4500A= (p.Arg1500=)
c.4354A= (p.Lys1452=)
c.4237A= (p.Lys1413=)
c.2934A= (p.Arg978=)
n.4918A=
n.4526+13829A=
c.4491A= (p.Arg1497=)
n.4934A=
n.4680A=
n.4542+13829A=
2g.227008220C>ACA67238301COL4A4c.209G>T (p.Arg70Ile)
c.4607G>T (p.Arg1536Ile)
c.4052G>T (p.Arg1351Ile)
c.4418G>T (p.Arg1473Ile)
c.4216+13828G>T (n.4216+13828G>T)
c.4526G>T (p.Arg1509Ile)
c.4499G>T (p.Arg1500Ile)
c.4353G>T (p.Glu1451Asp)
c.4236G>T (p.Glu1412Asp)
c.2933G>T (p.Arg978Ile)
n.4917G>T
n.4526+13828G>T
c.4490G>T (p.Arg1497Ile)
n.4933G>T
n.4679G>T
n.4542+13828G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227008220C=CA1332723969COL4A4c.209G= (p.Arg70=)
c.4607G= (p.Arg1536=)
c.4052G= (p.Arg1351=)
c.4418G= (p.Arg1473=)
c.4216+13828G= (n.4216+13828G=)
c.4526G= (p.Arg1509=)
c.4499G= (p.Arg1500=)
c.4353G= (p.Glu1451=)
c.4236G= (p.Glu1412=)
c.2933G= (p.Arg978=)
n.4917G=
n.4526+13828G=
c.4490G= (p.Arg1497=)
n.4933G=
n.4679G=
n.4542+13828G=
2g.227008220C>GCA351140859COL4A4c.209G>C (p.Arg70Thr)
c.4607G>C (p.Arg1536Thr)
c.4052G>C (p.Arg1351Thr)
c.4418G>C (p.Arg1473Thr)
c.4216+13828G>C (n.4216+13828G>C)
c.4526G>C (p.Arg1509Thr)
c.4499G>C (p.Arg1500Thr)
c.4353G>C (p.Glu1451Asp)
c.4236G>C (p.Glu1412Asp)
c.2933G>C (p.Arg978Thr)
n.4917G>C
n.4526+13828G>C
c.4490G>C (p.Arg1497Thr)
n.4933G>C
n.4679G>C
n.4542+13828G>C
2g.227008220C>TCA351140860COL4A4c.209G>A (p.Arg70Lys)
c.4607G>A (p.Arg1536Lys)
c.4052G>A (p.Arg1351Lys)
c.4418G>A (p.Arg1473Lys)
c.4216+13828G>A (n.4216+13828G>A)
c.4526G>A (p.Arg1509Lys)
c.4499G>A (p.Arg1500Lys)
c.4353G>A (p.Glu1451=)
c.4236G>A (p.Glu1412=)
c.2933G>A (p.Arg978Lys)
n.4917G>A
n.4526+13828G>A
c.4490G>A (p.Arg1497Lys)
n.4933G>A
n.4679G>A
n.4542+13828G>A
2g.227008221T>ACA351140861COL4A4c.208A>T (p.Arg70Ter)
c.4606A>T (p.Arg1536Ter)
c.4051A>T (p.Arg1351Ter)
c.4417A>T (p.Arg1473Ter)
c.4216+13827A>T (n.4216+13827A>T)
c.4525A>T (p.Arg1509Ter)
c.4498A>T (p.Arg1500Ter)
c.4352A>T (p.Glu1451Val)
c.4235A>T (p.Glu1412Val)
c.2932A>T (p.Arg978Ter)
n.4916A>T
n.4526+13827A>T
c.4489A>T (p.Arg1497Ter)
n.4932A>T
n.4678A>T
n.4542+13827A>T
2g.227008221T>CCA351140862COL4A4c.208A>G (p.Arg70Gly)
c.4606A>G (p.Arg1536Gly)
c.4051A>G (p.Arg1351Gly)
c.4417A>G (p.Arg1473Gly)
c.4216+13827A>G (n.4216+13827A>G)
c.4525A>G (p.Arg1509Gly)
c.4498A>G (p.Arg1500Gly)
c.4352A>G (p.Glu1451Gly)
c.4235A>G (p.Glu1412Gly)
c.2932A>G (p.Arg978Gly)
n.4916A>G
n.4526+13827A>G
c.4489A>G (p.Arg1497Gly)
n.4932A>G
n.4678A>G
n.4542+13827A>G
2g.227008221T>GCA431671981COL4A4c.208A>C (p.Arg70=)
c.4606A>C (p.Arg1536=)
c.4051A>C (p.Arg1351=)
c.4417A>C (p.Arg1473=)
c.4216+13827A>C (n.4216+13827A>C)
c.4525A>C (p.Arg1509=)
c.4498A>C (p.Arg1500=)
c.4352A>C (p.Glu1451Ala)
c.4235A>C (p.Glu1412Ala)
c.2932A>C (p.Arg978=)
n.4916A>C
n.4526+13827A>C
c.4489A>C (p.Arg1497=)
n.4932A>C
n.4678A>C
n.4542+13827A>C
2g.227008222C>ACA351140863COL4A4c.207G>T (p.Gln69His)
c.4605G>T (p.Gln1535His)
c.4050G>T (p.Gln1350His)
c.4416G>T (p.Gln1472His)
c.4216+13826G>T (n.4216+13826G>T)
c.4524G>T (p.Gln1508His)
c.4497G>T (p.Gln1499His)
c.4351G>T (p.Glu1451Ter)
c.4234G>T (p.Glu1412Ter)
c.2931G>T (p.Gln977His)
n.4915G>T
n.4526+13826G>T
c.4488G>T (p.Gln1496His)
n.4931G>T
n.4677G>T
n.4542+13826G>T
2g.227008222C>GCA351140864COL4A4c.207G>C (p.Gln69His)
c.4605G>C (p.Gln1535His)
c.4050G>C (p.Gln1350His)
c.4416G>C (p.Gln1472His)
c.4216+13826G>C (n.4216+13826G>C)
c.4524G>C (p.Gln1508His)
c.4497G>C (p.Gln1499His)
c.4351G>C (p.Glu1451Gln)
c.4234G>C (p.Glu1412Gln)
c.2931G>C (p.Gln977His)
n.4915G>C
n.4526+13826G>C
c.4488G>C (p.Gln1496His)
n.4931G>C
n.4677G>C
n.4542+13826G>C
2g.227008222C>TCA431671982COL4A4c.207G>A (p.Gln69=)
c.4605G>A (p.Gln1535=)
c.4050G>A (p.Gln1350=)
c.4416G>A (p.Gln1472=)
c.4216+13826G>A (n.4216+13826G>A)
c.4524G>A (p.Gln1508=)
c.4497G>A (p.Gln1499=)
c.4351G>A (p.Glu1451Lys)
c.4234G>A (p.Glu1412Lys)
c.2931G>A (p.Gln977=)
n.4915G>A
n.4526+13826G>A
c.4488G>A (p.Gln1496=)
n.4931G>A
n.4677G>A
n.4542+13826G>A
2g.227008222_227008224delinsCTGCA1332723970COL4A4c.205_207delinsCAG (p.Gln69=)
c.4603_4605delinsCAG (p.Gln1535=)
c.4048_4050delinsCAG (p.Gln1350=)
c.4414_4416delinsCAG (p.Gln1472=)
c.4216+13824_4216+13826delinsCAG (n.4216+13824_4216+13826delinsCAG)
c.4522_4524delinsCAG (p.Gln1508=)
c.4495_4497delinsCAG (p.Gln1499=)
c.4349_4351delinsCAG (p.Pro1450=)
c.4232_4234delinsCAG (p.Pro1411=)
c.2929_2931delinsCAG (p.Gln977=)
n.4913_4915delinsCAG
n.4526+13824_4526+13826delinsCAG
c.4486_4488delinsCAG (p.Gln1496=)
n.4929_4931delinsCAG
n.4675_4677delinsCAG
n.4542+13824_4542+13826delinsCAG

Number of alleles fetched