| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227008105_227008128dup | CA2144083 | COL4A4 | c.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 |
| 2 | g.227008112G>A | CA257925 | COL4A4 | c.317C>T (p.Pro106Leu) c.4715C>T (p.Pro1572Leu) c.4160C>T (p.Pro1387Leu) c.4526C>T (p.Pro1509Leu) c.4216+13936C>T (n.4216+13936C>T) c.4634C>T (p.Pro1545Leu) c.4607C>T (p.Pro1536Leu) c.*48C>T (n.*48C>T) c.3041C>T (p.Pro1014Leu) n.5025C>T n.4526+13936C>T c.4598C>T (p.Pro1533Leu) n.5041C>T n.4787C>T n.4542+13936C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227008112G>C | CA351140631 | COL4A4 | c.317C>G (p.Pro106Arg) c.4715C>G (p.Pro1572Arg) c.4160C>G (p.Pro1387Arg) c.4526C>G (p.Pro1509Arg) c.4216+13936C>G (n.4216+13936C>G) c.4634C>G (p.Pro1545Arg) c.4607C>G (p.Pro1536Arg) c.*48C>G (n.*48C>G) c.3041C>G (p.Pro1014Arg) n.5025C>G n.4526+13936C>G c.4598C>G (p.Pro1533Arg) n.5041C>G n.4787C>G n.4542+13936C>G | |
| 2 | g.227008112G= | CA1332723909 | COL4A4 | c.317C= (p.Pro106=) c.4715C= (p.Pro1572=) c.4160C= (p.Pro1387=) c.4526C= (p.Pro1509=) c.4216+13936C= (n.4216+13936C=) c.4634C= (p.Pro1545=) c.4607C= (p.Pro1536=) c.*48C= (n.*48C=) c.3041C= (p.Pro1014=) n.5025C= n.4526+13936C= c.4598C= (p.Pro1533=) n.5041C= n.4787C= n.4542+13936C= | |
| 2 | g.227008112G>T | CA351140632 | COL4A4 | c.317C>A (p.Pro106Gln) c.4715C>A (p.Pro1572Gln) c.4160C>A (p.Pro1387Gln) c.4526C>A (p.Pro1509Gln) c.4216+13936C>A (n.4216+13936C>A) c.4634C>A (p.Pro1545Gln) c.4607C>A (p.Pro1536Gln) c.*48C>A (n.*48C>A) c.3041C>A (p.Pro1014Gln) n.5025C>A n.4526+13936C>A c.4598C>A (p.Pro1533Gln) n.5041C>A n.4787C>A n.4542+13936C>A | |
| 2 | g.227008113G>A | CA67238296 | COL4A4 | c.316C>T (p.Pro106Ser) c.4714C>T (p.Pro1572Ser) c.4159C>T (p.Pro1387Ser) c.4525C>T (p.Pro1509Ser) c.4216+13935C>T (n.4216+13935C>T) c.4633C>T (p.Pro1545Ser) c.4606C>T (p.Pro1536Ser) c.*47C>T (n.*47C>T) c.3040C>T (p.Pro1014Ser) n.5024C>T n.4526+13935C>T c.4597C>T (p.Pro1533Ser) n.5040C>T n.4786C>T n.4542+13935C>T | dbSNP gnomAD v4 |
| 2 | g.227008113G>C | CA351140633 | COL4A4 | c.316C>G (p.Pro106Ala) c.4714C>G (p.Pro1572Ala) c.4159C>G (p.Pro1387Ala) c.4525C>G (p.Pro1509Ala) c.4216+13935C>G (n.4216+13935C>G) c.4633C>G (p.Pro1545Ala) c.4606C>G (p.Pro1536Ala) c.*47C>G (n.*47C>G) c.3040C>G (p.Pro1014Ala) n.5024C>G n.4526+13935C>G c.4597C>G (p.Pro1533Ala) n.5040C>G n.4786C>G n.4542+13935C>G | |
| 2 | g.227008113G= | CA1332723910 | COL4A4 | c.316C= (p.Pro106=) c.4714C= (p.Pro1572=) c.4159C= (p.Pro1387=) c.4525C= (p.Pro1509=) c.4216+13935C= (n.4216+13935C=) c.4633C= (p.Pro1545=) c.4606C= (p.Pro1536=) c.*47C= (n.*47C=) c.3040C= (p.Pro1014=) n.5024C= n.4526+13935C= c.4597C= (p.Pro1533=) n.5040C= n.4786C= n.4542+13935C= | |
| 2 | g.227008113G>T | CA351140634 | COL4A4 | c.316C>A (p.Pro106Thr) c.4714C>A (p.Pro1572Thr) c.4159C>A (p.Pro1387Thr) c.4525C>A (p.Pro1509Thr) c.4216+13935C>A (n.4216+13935C>A) c.4633C>A (p.Pro1545Thr) c.4606C>A (p.Pro1536Thr) c.*47C>A (n.*47C>A) c.3040C>A (p.Pro1014Thr) n.5024C>A n.4526+13935C>A c.4597C>A (p.Pro1533Thr) n.5040C>A n.4786C>A n.4542+13935C>A | |
| 2 | g.227008113_227008133delinsGGGCCTCGCATACCGCACAGC | CA1332723911 | COL4A4 | c.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 | |
| 2 | g.227008114G>A | CA431672131 | COL4A4 | c.315C>T (p.Ala105=) c.4713C>T (p.Ala1571=) c.4158C>T (p.Ala1386=) c.4524C>T (p.Ala1508=) c.4216+13934C>T (n.4216+13934C>T) c.4632C>T (p.Ala1544=) c.4605C>T (p.Ala1535=) c.*46C>T (n.*46C>T) c.3039C>T (p.Ala1013=) n.5023C>T n.4526+13934C>T c.4596C>T (p.Ala1532=) n.5039C>T n.4785C>T n.4542+13934C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.227008114G>C | CA431672132 | COL4A4 | c.315C>G (p.Ala105=) c.4713C>G (p.Ala1571=) c.4158C>G (p.Ala1386=) c.4524C>G (p.Ala1508=) c.4216+13934C>G (n.4216+13934C>G) c.4632C>G (p.Ala1544=) c.4605C>G (p.Ala1535=) c.*46C>G (n.*46C>G) c.3039C>G (p.Ala1013=) n.5023C>G n.4526+13934C>G c.4596C>G (p.Ala1532=) n.5039C>G n.4785C>G n.4542+13934C>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.227008114G>T | CA431672134 | COL4A4 | c.315C>A (p.Ala105=) c.4713C>A (p.Ala1571=) c.4158C>A (p.Ala1386=) c.4524C>A (p.Ala1508=) c.4216+13934C>A (n.4216+13934C>A) c.4632C>A (p.Ala1544=) c.4605C>A (p.Ala1535=) c.*46C>A (n.*46C>A) c.3039C>A (p.Ala1013=) n.5023C>A n.4526+13934C>A c.4596C>A (p.Ala1532=) n.5039C>A n.4785C>A n.4542+13934C>A | |
| 2 | g.227008117_227008136del | CA658796189 | COL4A4 | c.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 |
| 2 | g.227008115G>A | CA351140637 | COL4A4 | c.314C>T (p.Ala105Val) c.4712C>T (p.Ala1571Val) c.4157C>T (p.Ala1386Val) c.4523C>T (p.Ala1508Val) c.4216+13933C>T (n.4216+13933C>T) c.4631C>T (p.Ala1544Val) c.4604C>T (p.Ala1535Val) c.*45C>T (n.*45C>T) c.3038C>T (p.Ala1013Val) n.5022C>T n.4526+13933C>T c.4595C>T (p.Ala1532Val) n.5038C>T n.4784C>T n.4542+13933C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227008115G>C | CA351140635 | COL4A4 | c.314C>G (p.Ala105Gly) c.4712C>G (p.Ala1571Gly) c.4157C>G (p.Ala1386Gly) c.4523C>G (p.Ala1508Gly) c.4216+13933C>G (n.4216+13933C>G) c.4631C>G (p.Ala1544Gly) c.4604C>G (p.Ala1535Gly) c.*45C>G (n.*45C>G) c.3038C>G (p.Ala1013Gly) n.5022C>G n.4526+13933C>G c.4595C>G (p.Ala1532Gly) n.5038C>G n.4784C>G n.4542+13933C>G | |
| 2 | g.227008115G= | CA1332723912 | COL4A4 | c.314C= (p.Ala105=) c.4712C= (p.Ala1571=) c.4157C= (p.Ala1386=) c.4523C= (p.Ala1508=) c.4216+13933C= (n.4216+13933C=) c.4631C= (p.Ala1544=) c.4604C= (p.Ala1535=) c.*45C= (n.*45C=) c.3038C= (p.Ala1013=) n.5022C= n.4526+13933C= c.4595C= (p.Ala1532=) n.5038C= n.4784C= n.4542+13933C= | |
| 2 | g.227008115G>T | CA351140636 | COL4A4 | c.314C>A (p.Ala105Asp) c.4712C>A (p.Ala1571Asp) c.4157C>A (p.Ala1386Asp) c.4523C>A (p.Ala1508Asp) c.4216+13933C>A (n.4216+13933C>A) c.4631C>A (p.Ala1544Asp) c.4604C>A (p.Ala1535Asp) c.*45C>A (n.*45C>A) c.3038C>A (p.Ala1013Asp) n.5022C>A n.4526+13933C>A c.4595C>A (p.Ala1532Asp) n.5038C>A n.4784C>A n.4542+13933C>A | dbSNP |
| 2 | g.227008116C>A | CA351140638 | COL4A4 | c.313G>T (p.Ala105Ser) c.4711G>T (p.Ala1571Ser) c.4156G>T (p.Ala1386Ser) c.4522G>T (p.Ala1508Ser) c.4216+13932G>T (n.4216+13932G>T) c.4630G>T (p.Ala1544Ser) c.4603G>T (p.Ala1535Ser) c.*44G>T (n.*44G>T) c.3037G>T (p.Ala1013Ser) n.5021G>T n.4526+13932G>T c.4594G>T (p.Ala1532Ser) n.5037G>T n.4783G>T n.4542+13932G>T | |
| 2 | g.227008116C>G | CA351140639 | COL4A4 | c.313G>C (p.Ala105Pro) c.4711G>C (p.Ala1571Pro) c.4156G>C (p.Ala1386Pro) c.4522G>C (p.Ala1508Pro) c.4216+13932G>C (n.4216+13932G>C) c.4630G>C (p.Ala1544Pro) c.4603G>C (p.Ala1535Pro) c.*44G>C (n.*44G>C) c.3037G>C (p.Ala1013Pro) n.5021G>C n.4526+13932G>C c.4594G>C (p.Ala1532Pro) n.5037G>C n.4783G>C n.4542+13932G>C | |
| 2 | g.227008116C>T | CA351140640 | COL4A4 | c.313G>A (p.Ala105Thr) c.4711G>A (p.Ala1571Thr) c.4156G>A (p.Ala1386Thr) c.4522G>A (p.Ala1508Thr) c.4216+13932G>A (n.4216+13932G>A) c.4630G>A (p.Ala1544Thr) c.4603G>A (p.Ala1535Thr) c.*44G>A (n.*44G>A) c.3037G>A (p.Ala1013Thr) n.5021G>A n.4526+13932G>A c.4594G>A (p.Ala1532Thr) n.5037G>A n.4783G>A n.4542+13932G>A | |
| 2 | g.227008117C>A | CA351140641 | COL4A4 | c.312G>T (p.Glu104Asp) c.4710G>T (p.Glu1570Asp) c.4155G>T (p.Glu1385Asp) c.4521G>T (p.Glu1507Asp) c.4216+13931G>T (n.4216+13931G>T) c.4629G>T (p.Glu1543Asp) c.4602G>T (p.Glu1534Asp) c.*43G>T (n.*43G>T) c.3036G>T (p.Glu1012Asp) n.5020G>T n.4526+13931G>T c.4593G>T (p.Glu1531Asp) n.5036G>T n.4782G>T n.4542+13931G>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.227008117C= | CA1332723913 | COL4A4 | c.312G= (p.Glu104=) c.4710G= (p.Glu1570=) c.4155G= (p.Glu1385=) c.4521G= (p.Glu1507=) c.4216+13931G= (n.4216+13931G=) c.4629G= (p.Glu1543=) c.4602G= (p.Glu1534=) c.*43G= (n.*43G=) c.3036G= (p.Glu1012=) n.5020G= n.4526+13931G= c.4593G= (p.Glu1531=) n.5036G= n.4782G= n.4542+13931G= | |
| 2 | g.227008117C>G | CA351140642 | COL4A4 | c.312G>C (p.Glu104Asp) c.4710G>C (p.Glu1570Asp) c.4155G>C (p.Glu1385Asp) c.4521G>C (p.Glu1507Asp) c.4216+13931G>C (n.4216+13931G>C) c.4629G>C (p.Glu1543Asp) c.4602G>C (p.Glu1534Asp) c.*43G>C (n.*43G>C) c.3036G>C (p.Glu1012Asp) n.5020G>C n.4526+13931G>C c.4593G>C (p.Glu1531Asp) n.5036G>C n.4782G>C n.4542+13931G>C | |
| 2 | g.227008117C>T | CA431672136 | COL4A4 | c.312G>A (p.Glu104=) c.4710G>A (p.Glu1570=) c.4155G>A (p.Glu1385=) c.4521G>A (p.Glu1507=) c.4216+13931G>A (n.4216+13931G>A) c.4629G>A (p.Glu1543=) c.4602G>A (p.Glu1534=) c.*43G>A (n.*43G>A) c.3036G>A (p.Glu1012=) n.5020G>A n.4526+13931G>A c.4593G>A (p.Glu1531=) n.5036G>A n.4782G>A n.4542+13931G>A | gnomAD v4 |
| 2 | g.227008118T>A | CA351140643 | COL4A4 | c.311A>T (p.Glu104Val) c.4709A>T (p.Glu1570Val) c.4154A>T (p.Glu1385Val) c.4520A>T (p.Glu1507Val) c.4216+13930A>T (n.4216+13930A>T) c.4628A>T (p.Glu1543Val) c.4601A>T (p.Glu1534Val) c.*42A>T (n.*42A>T) c.3035A>T (p.Glu1012Val) n.5019A>T n.4526+13930A>T c.4592A>T (p.Glu1531Val) n.5035A>T n.4781A>T n.4542+13930A>T | |
| 2 | g.227008118T>C | CA351140644 | COL4A4 | c.311A>G (p.Glu104Gly) c.4709A>G (p.Glu1570Gly) c.4154A>G (p.Glu1385Gly) c.4520A>G (p.Glu1507Gly) c.4216+13930A>G (n.4216+13930A>G) c.4628A>G (p.Glu1543Gly) c.4601A>G (p.Glu1534Gly) c.*42A>G (n.*42A>G) c.3035A>G (p.Glu1012Gly) n.5019A>G n.4526+13930A>G c.4592A>G (p.Glu1531Gly) n.5035A>G n.4781A>G n.4542+13930A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227008118T>G | CA351140645 | COL4A4 | c.311A>C (p.Glu104Ala) c.4709A>C (p.Glu1570Ala) c.4154A>C (p.Glu1385Ala) c.4520A>C (p.Glu1507Ala) c.4216+13930A>C (n.4216+13930A>C) c.4628A>C (p.Glu1543Ala) c.4601A>C (p.Glu1534Ala) c.*42A>C (n.*42A>C) c.3035A>C (p.Glu1012Ala) n.5019A>C n.4526+13930A>C c.4592A>C (p.Glu1531Ala) n.5035A>C n.4781A>C n.4542+13930A>C | |
| 2 | g.227008118T= | CA1332723914 | COL4A4 | c.311A= (p.Glu104=) c.4709A= (p.Glu1570=) c.4154A= (p.Glu1385=) c.4520A= (p.Glu1507=) c.4216+13930A= (n.4216+13930A=) c.4628A= (p.Glu1543=) c.4601A= (p.Glu1534=) c.*42A= (n.*42A=) c.3035A= (p.Glu1012=) n.5019A= n.4526+13930A= c.4592A= (p.Glu1531=) n.5035A= n.4781A= n.4542+13930A= | |
| 2 | g.227008119C>A | CA351140646 | COL4A4 | c.310G>T (p.Glu104Ter) c.4708G>T (p.Glu1570Ter) c.4153G>T (p.Glu1385Ter) c.4519G>T (p.Glu1507Ter) c.4216+13929G>T (n.4216+13929G>T) c.4627G>T (p.Glu1543Ter) c.4600G>T (p.Glu1534Ter) c.*41G>T (n.*41G>T) c.3034G>T (p.Glu1012Ter) n.5018G>T n.4526+13929G>T c.4591G>T (p.Glu1531Ter) n.5034G>T n.4780G>T n.4542+13929G>T | |
| 2 | g.227008119C= | CA1332723915 | COL4A4 | c.310G= (p.Glu104=) c.4708G= (p.Glu1570=) c.4153G= (p.Glu1385=) c.4519G= (p.Glu1507=) c.4216+13929G= (n.4216+13929G=) c.4627G= (p.Glu1543=) c.4600G= (p.Glu1534=) c.*41G= (n.*41G=) c.3034G= (p.Glu1012=) n.5018G= n.4526+13929G= c.4591G= (p.Glu1531=) n.5034G= n.4780G= n.4542+13929G= | |
| 2 | g.227008119C>G | CA67238297 | COL4A4 | c.310G>C (p.Glu104Gln) c.4708G>C (p.Glu1570Gln) c.4153G>C (p.Glu1385Gln) c.4519G>C (p.Glu1507Gln) c.4216+13929G>C (n.4216+13929G>C) c.4627G>C (p.Glu1543Gln) c.4600G>C (p.Glu1534Gln) c.*41G>C (n.*41G>C) c.3034G>C (p.Glu1012Gln) n.5018G>C n.4526+13929G>C c.4591G>C (p.Glu1531Gln) n.5034G>C n.4780G>C n.4542+13929G>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.227008119C>T | CA2144088 | COL4A4 | c.310G>A (p.Glu104Lys) c.4708G>A (p.Glu1570Lys) c.4153G>A (p.Glu1385Lys) c.4519G>A (p.Glu1507Lys) c.4216+13929G>A (n.4216+13929G>A) c.4627G>A (p.Glu1543Lys) c.4600G>A (p.Glu1534Lys) c.*41G>A (n.*41G>A) c.3034G>A (p.Glu1012Lys) n.5018G>A n.4526+13929G>A c.4591G>A (p.Glu1531Lys) n.5034G>A n.4780G>A n.4542+13929G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227008123_227008129dup | CA2577263044 | COL4A4 | c.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 | |
| 2 | g.227008120G>A | CA2144089 | COL4A4 | c.309C>T (p.Cys103=) c.4707C>T (p.Cys1569=) c.4152C>T (p.Cys1384=) c.4518C>T (p.Cys1506=) c.4216+13928C>T (n.4216+13928C>T) c.4626C>T (p.Cys1542=) c.4599C>T (p.Cys1533=) c.*40C>T (n.*40C>T) c.3033C>T (p.Cys1011=) n.5017C>T n.4526+13928C>T c.4590C>T (p.Cys1530=) n.5033C>T n.4779C>T n.4542+13928C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.227008120G>C | CA351140648 | COL4A4 | c.309C>G (p.Cys103Trp) c.4707C>G (p.Cys1569Trp) c.4152C>G (p.Cys1384Trp) c.4518C>G (p.Cys1506Trp) c.4216+13928C>G (n.4216+13928C>G) c.4626C>G (p.Cys1542Trp) c.4599C>G (p.Cys1533Trp) c.*40C>G (n.*40C>G) c.3033C>G (p.Cys1011Trp) n.5017C>G n.4526+13928C>G c.4590C>G (p.Cys1530Trp) n.5033C>G n.4779C>G n.4542+13928C>G | |
| 2 | g.227008120G= | CA1332723916 | COL4A4 | c.309C= (p.Cys103=) c.4707C= (p.Cys1569=) c.4152C= (p.Cys1384=) c.4518C= (p.Cys1506=) c.4216+13928C= (n.4216+13928C=) c.4626C= (p.Cys1542=) c.4599C= (p.Cys1533=) c.*40C= (n.*40C=) c.3033C= (p.Cys1011=) n.5017C= n.4526+13928C= c.4590C= (p.Cys1530=) n.5033C= n.4779C= n.4542+13928C= | |
| 2 | g.227008120G>T | CA351140647 | COL4A4 | c.309C>A (p.Cys103Ter) c.4707C>A (p.Cys1569Ter) c.4152C>A (p.Cys1384Ter) c.4518C>A (p.Cys1506Ter) c.4216+13928C>A (n.4216+13928C>A) c.4626C>A (p.Cys1542Ter) c.4599C>A (p.Cys1533Ter) c.*40C>A (n.*40C>A) c.3033C>A (p.Cys1011Ter) n.5017C>A n.4526+13928C>A c.4590C>A (p.Cys1530Ter) n.5033C>A n.4779C>A n.4542+13928C>A | |
| 2 | g.227008121C>A | CA2144090 | COL4A4 | c.308G>T (p.Cys103Phe) c.4706G>T (p.Cys1569Phe) c.4151G>T (p.Cys1384Phe) c.4517G>T (p.Cys1506Phe) c.4216+13927G>T (n.4216+13927G>T) c.4625G>T (p.Cys1542Phe) c.4598G>T (p.Cys1533Phe) c.*39G>T (n.*39G>T) c.3032G>T (p.Cys1011Phe) n.5016G>T n.4526+13927G>T c.4589G>T (p.Cys1530Phe) n.5032G>T n.4778G>T n.4542+13927G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227008121C= | CA1332723917 | COL4A4 | c.308G= (p.Cys103=) c.4706G= (p.Cys1569=) c.4151G= (p.Cys1384=) c.4517G= (p.Cys1506=) c.4216+13927G= (n.4216+13927G=) c.4625G= (p.Cys1542=) c.4598G= (p.Cys1533=) c.*39G= (n.*39G=) c.3032G= (p.Cys1011=) n.5016G= n.4526+13927G= c.4589G= (p.Cys1530=) n.5032G= n.4778G= n.4542+13927G= | |
| 2 | g.227008121C>G | CA351140650 | COL4A4 | c.308G>C (p.Cys103Ser) c.4706G>C (p.Cys1569Ser) c.4151G>C (p.Cys1384Ser) c.4517G>C (p.Cys1506Ser) c.4216+13927G>C (n.4216+13927G>C) c.4625G>C (p.Cys1542Ser) c.4598G>C (p.Cys1533Ser) c.*39G>C (n.*39G>C) c.3032G>C (p.Cys1011Ser) n.5016G>C n.4526+13927G>C c.4589G>C (p.Cys1530Ser) n.5032G>C n.4778G>C n.4542+13927G>C | |
| 2 | g.227008121C>T | CA351140649 | COL4A4 | c.308G>A (p.Cys103Tyr) c.4706G>A (p.Cys1569Tyr) c.4151G>A (p.Cys1384Tyr) c.4517G>A (p.Cys1506Tyr) c.4216+13927G>A (n.4216+13927G>A) c.4625G>A (p.Cys1542Tyr) c.4598G>A (p.Cys1533Tyr) c.*39G>A (n.*39G>A) c.3032G>A (p.Cys1011Tyr) n.5016G>A n.4526+13927G>A c.4589G>A (p.Cys1530Tyr) n.5032G>A n.4778G>A n.4542+13927G>A | |
| 2 | g.227008122A>C | CA351140651 | COL4A4 | c.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 | |
| 2 | g.227008122A>G | CA351140653 | COL4A4 | c.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 | |
| 2 | g.227008122A>T | CA351140652 | COL4A4 | c.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 | |
| 2 | g.227008123T>A | CA431672142 | COL4A4 | c.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 | |
| 2 | g.227008123T>C | CA431672143 | COL4A4 | c.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 |
| 2 | g.227008123T>G | CA431672145 | COL4A4 | c.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 | |
| 2 | g.227008124A>C | CA351140654 | COL4A4 | c.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 | |
| 2 | g.227008124A>G | CA351140655 | COL4A4 | c.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 |