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.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.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.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 | |
2 | g.227008124A>T | CA351140656 | COL4A4 | c.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 | |
2 | g.227008125C>A | CA351140657 | COL4A4 | c.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 | |
2 | g.227008125C= | CA1332723918 | COL4A4 | c.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= | |
2 | g.227008125C>G | CA351140658 | COL4A4 | c.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 | |
2 | g.227008125C>T | CA67238298 | COL4A4 | c.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 |
2 | g.227008126C>A | CA431672146 | COL4A4 | c.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 |
2 | g.227008126C= | CA1332723919 | COL4A4 | c.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= | |
2 | g.227008126C>G | CA431672147 | COL4A4 | c.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 | |
2 | g.227008126C>T | CA2144091 | COL4A4 | c.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 |
2 | g.227008127G>A | CA2144092 | COL4A4 | c.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 |
2 | g.227008127G>C | CA351140659 | COL4A4 | c.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 | |
2 | g.227008127G= | CA1332723920 | COL4A4 | c.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= | |
2 | g.227008127G>T | CA351140660 | COL4A4 | c.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 | |
2 | g.227008128C>A | CA351140661 | COL4A4 | c.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 |
2 | g.227008128C= | CA1332723922 | COL4A4 | c.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= | |
2 | g.227008128C>G | CA351140662 | COL4A4 | c.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 |
2 | g.227008128C>T | CA351140663 | COL4A4 | c.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 | |
2 | g.227008128_227008129delinsCA | CA1332723921 | COL4A4 | c.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 | |
2 | g.227008129del | CA2144093 | COL4A4 | c.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 |
2 | g.227008129A>C | CA351140665 | COL4A4 | c.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 | |
2 | g.227008129A>G | CA431672151 | COL4A4 | c.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 |
2 | g.227008129A>T | CA351140664 | COL4A4 | c.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 | |
2 | g.227008130C>A | CA351140666 | COL4A4 | c.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 | |
2 | g.227008130C>G | CA351140667 | COL4A4 | c.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 | |
2 | g.227008130C>T | CA351140668 | COL4A4 | c.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 |
2 | g.227008131A= | CA1332723923 | COL4A4 | c.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= | |
2 | g.227008131A>C | CA351140669 | COL4A4 | c.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 |
2 | g.227008131A>G | CA351140670 | COL4A4 | c.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 | |
2 | g.227008131A>T | CA351140671 | COL4A4 | c.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 | |
2 | g.227008132G>A | CA431671869 | COL4A4 | c.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 |
2 | g.227008132G>C | CA431671870 | COL4A4 | c.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 | |
2 | g.227008132G= | CA1332723924 | COL4A4 | c.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= | |
2 | g.227008132G>T | CA431671871 | COL4A4 | c.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 |
2 | g.227008133C>A | CA351140672 | COL4A4 | c.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 |
2 | g.227008133C= | CA1332723925 | COL4A4 | c.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= | |
2 | g.227008133C>G | CA351140673 | COL4A4 | c.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 | |
2 | g.227008133C>T | CA2144094 | COL4A4 | c.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 |
2 | g.227008134G>A | CA2144095 | COL4A4 | c.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 |
2 | g.227008134G>C | CA351140674 | COL4A4 | c.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 | |
2 | g.227008134G= | CA1332723926 | COL4A4 | c.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= | |
2 | g.227008134G>T | CA351140675 | COL4A4 | c.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 | |
2 | g.227008135G>A | CA431671873 | COL4A4 | c.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 |
2 | g.227008135G>C | CA351140676 | COL4A4 | c.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 | |
2 | g.227008135G= | CA1332723927 | COL4A4 | c.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= | |
2 | g.227008135G>T | CA351140677 | COL4A4 | c.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 | |
2 | g.227008136C>A | CA351140679 | COL4A4 | c.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 | |
2 | g.227008136C>G | CA351140680 | COL4A4 | c.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 | |
2 | g.227008136C>T | CA351140678 | COL4A4 | c.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 |
2 | g.227008137T>A | CA351140681 | COL4A4 | c.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 | |
2 | g.227008137T>C | CA351140682 | COL4A4 | c.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 | |
2 | g.227008137T>G | CA351140683 | COL4A4 | c.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 | |
2 | g.227008138G>A | CA431671879 | COL4A4 | c.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 |
2 | g.227008138G>C | CA431671878 | COL4A4 | c.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 |
2 | g.227008138G= | CA1332723928 | COL4A4 | c.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= | |
2 | g.227008138G>T | CA431671877 | COL4A4 | c.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 | |
2 | g.227008139A>C | CA351140684 | COL4A4 | c.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 |
2 | g.227008139A>G | CA351140685 | COL4A4 | c.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 |
2 | g.227008139A>T | CA351140686 | COL4A4 | c.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 | |
2 | g.227008140C>A | CA351140687 | COL4A4 | c.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 | |
2 | g.227008140C>G | CA351140688 | COL4A4 | c.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 | |
2 | g.227008140C>T | CA351140689 | COL4A4 | c.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 | |
2 | g.227008140_227008142delinsCAT | CA1332723929 | COL4A4 | c.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 | |
2 | g.227008141A>C | CA351140690 | COL4A4 | c.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 | |
2 | g.227008141A>G | CA431671880 | COL4A4 | c.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 |
2 | g.227008141A>T | CA351140691 | COL4A4 | c.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 | |
2 | g.227008142_227008143del | CA540312148 | COL4A4 | c.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 |
2 | g.227008142T>A | CA351140694 | COL4A4 | c.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 |
2 | g.227008142T>C | CA351140693 | COL4A4 | c.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 | |
2 | g.227008142T>G | CA351140692 | COL4A4 | c.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 | |
2 | g.227008142_227008143delinsTA | CA1332723930 | COL4A4 | c.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 | |
2 | g.227008143del | CA915940921 | COL4A4 | c.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 |
2 | g.227008143A= | CA1332723931 | COL4A4 | c.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= | |
2 | g.227008143A>C | CA351140695 | COL4A4 | c.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 | |
2 | g.227008143A>G | CA351140696 | COL4A4 | c.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 |
2 | g.227008143A>T | CA351140697 | COL4A4 | c.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 | |
2 | g.227008143_227008144del | CA2663402638 | COL4A4 | c.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 |
2 | g.227008143_227008148del | CA913089935 | COL4A4 | c.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 | |
2 | g.227008143_227008148delinsAGGGGC | CA1332723932 | COL4A4 | c.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 | |
2 | g.227008144G>A | CA431671883 | COL4A4 | c.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 |
2 | g.227008144G>C | CA431671884 | COL4A4 | c.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 | |
2 | g.227008144G>T | CA431671885 | COL4A4 | c.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 | |
2 | g.227008146_227008150del | CA658821838 | COL4A4 | c.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 |
2 | g.227008145G>A | CA351140698 | COL4A4 | c.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 | |
2 | g.227008145G>C | CA351140699 | COL4A4 | c.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 | |
2 | g.227008145G>T | CA351140700 | COL4A4 | c.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 | |
2 | g.227008146G>A | CA2144096 | COL4A4 | c.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 |
2 | g.227008146G>C | CA351140701 | COL4A4 | c.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 | |
2 | g.227008146G= | CA1332723933 | COL4A4 | c.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= | |
2 | g.227008146G>T | CA351140702 | COL4A4 | c.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 | |
2 | g.227008147G>A | CA431671889 | COL4A4 | c.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 |
2 | g.227008147G>C | CA431671890 | COL4A4 | c.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 |
2 | g.227008147G>T | CA431671891 | COL4A4 | c.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 | |
2 | g.227008148C>A | CA351140703 | COL4A4 | c.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 | |
2 | g.227008148C= | CA1332723934 | COL4A4 | c.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= | |
2 | g.227008148C>G | CA351140704 | COL4A4 | c.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 |
2 | g.227008148C>T | CA2144097 | COL4A4 | c.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 |
2 | g.227008149G>A | CA2144098 | COL4A4 | c.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 |
2 | g.227008149G>C | CA351140706 | COL4A4 | c.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 | |
2 | g.227008149G= | CA1332723935 | COL4A4 | c.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= | |
2 | g.227008149G>T | CA351140705 | COL4A4 | c.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 | |
2 | g.227008150G>A | CA431671893 | COL4A4 | c.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 | |
2 | g.227008150G>C | CA351140707 | COL4A4 | c.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 | |
2 | g.227008150G>T | CA431671895 | COL4A4 | c.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 | |
2 | g.227008151A>C | CA351140708 | COL4A4 | c.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 | |
2 | g.227008151A>G | CA351140709 | COL4A4 | c.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 |
2 | g.227008151A>T | CA351140710 | COL4A4 | c.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 | |
2 | g.227008152T>A | CA351140711 | COL4A4 | c.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 | |
2 | g.227008152T>C | CA351140712 | COL4A4 | c.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 | |
2 | g.227008152T>G | CA351140713 | COL4A4 | c.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 | |
2 | g.227008153C>A | CA431671897 | COL4A4 | c.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 | |
2 | g.227008153C= | CA1332723936 | COL4A4 | c.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= | |
2 | g.227008153C>G | CA431671898 | COL4A4 | c.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 |
2 | g.227008153C>T | CA2144099 | COL4A4 | c.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 |
2 | g.227008154G>A | CA2144100 | COL4A4 | c.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 |
2 | g.227008154G>C | CA351140714 | COL4A4 | c.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 | |
2 | g.227008154G= | CA1332723937 | COL4A4 | c.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= | |
2 | g.227008154G>T | CA351140715 | COL4A4 | c.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 | |
2 | g.227008155C>A | CA351140716 | COL4A4 | c.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 |
2 | g.227008155C>G | CA351140717 | COL4A4 | c.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 | |
2 | g.227008155C>T | CA351140718 | COL4A4 | c.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 |
2 | g.227008156C>A | CA351140719 | COL4A4 | c.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 | |
2 | g.227008156C>G | CA351140720 | COL4A4 | c.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 | |
2 | g.227008156C>T | CA431671900 | COL4A4 | c.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 |
2 | g.227008157T>A | CA351140721 | COL4A4 | c.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 | |
2 | g.227008157T>C | CA351140722 | COL4A4 | c.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 |
2 | g.227008157T>G | CA351140723 | COL4A4 | c.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 | |
2 | g.227008158C>A | CA351140724 | COL4A4 | c.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 |
2 | g.227008158C>G | CA351140725 | COL4A4 | c.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 |
2 | g.227008158C>T | CA351140726 | COL4A4 | c.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 |
2 | g.227008159T>A | CA351140727 | COL4A4 | c.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 | |
2 | g.227008159T>C | CA2144101 | COL4A4 | c.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 |
2 | g.227008159T>G | CA351140728 | COL4A4 | c.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 | |
2 | g.227008159T= | CA1332723938 | COL4A4 | c.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= | |
2 | g.227008160T>A | CA351140729 | COL4A4 | c.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 | |
2 | g.227008160T>C | CA351140730 | COL4A4 | c.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 | |
2 | g.227008160T>G | CA351140731 | COL4A4 | c.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 | |
2 | g.227008161C>A | CA351140732 | COL4A4 | c.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 | |
2 | g.227008161C>G | CA351140734 | COL4A4 | c.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 |
2 | g.227008161C>T | CA351140733 | COL4A4 | c.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 | |
2 | g.227008161_227008163delinsCAG | CA1332723939 | COL4A4 | c.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 | |
2 | g.227008162A>C | CA431671905 | COL4A4 | c.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 | |
2 | g.227008162A>G | CA431671906 | COL4A4 | c.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 | |
2 | g.227008162A>T | CA431671907 | COL4A4 | c.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 | |
2 | g.227008166_227008167del | CA2144102 | COL4A4 | c.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 |
2 | g.227008163G>A | CA351140735 | COL4A4 | c.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 |
2 | g.227008163G>C | CA351140736 | COL4A4 | c.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 | |
2 | g.227008163G>T | CA351140737 | COL4A4 | c.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 | |
2 | g.227008164A>C | CA351140738 | COL4A4 | c.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 | |
2 | g.227008164A>G | CA351140739 | COL4A4 | c.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 |
2 | g.227008164A>T | CA351140740 | COL4A4 | c.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 | |
2 | g.227008165G>A | CA431671910 | COL4A4 | c.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 | |
2 | g.227008165G>C | CA431671911 | COL4A4 | c.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 | |
2 | g.227008165G>T | CA431671912 | COL4A4 | c.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 |
2 | g.227008166A>C | CA351140741 | COL4A4 | c.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 | |
2 | g.227008166A>G | CA351140742 | COL4A4 | c.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 |
2 | g.227008166A>T | CA351140743 | COL4A4 | c.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 | |
2 | g.227008167G>A | CA351140744 | COL4A4 | c.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 |
2 | g.227008167G>C | CA351140745 | COL4A4 | c.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 | |
2 | g.227008167G= | CA1332723940 | COL4A4 | c.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= | |
2 | g.227008167G>T | CA351140746 | COL4A4 | c.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 | |
2 | g.227008168T>A | CA431671914 | COL4A4 | c.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 | |
2 | g.227008168T>C | CA431671915 | COL4A4 | c.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 | |
2 | g.227008168T>G | CA431671916 | COL4A4 | c.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 | |
2 | g.227008169G>A | CA351140747 | COL4A4 | c.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 | |
2 | g.227008169G>C | CA351140749 | COL4A4 | c.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 | |
2 | g.227008169G>T | CA351140748 | COL4A4 | c.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 | |
2 | g.227008170G>A | CA351140750 | COL4A4 | c.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 | |
2 | g.227008170G>C | CA351140751 | COL4A4 | c.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 | |
2 | g.227008170G>T | CA351140752 | COL4A4 | c.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 | |
2 | g.227008170_227008172delinsGCA | CA1332723941 | COL4A4 | c.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 | |
2 | g.227008171C>A | CA351140753 | COL4A4 | c.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 | |
2 | g.227008171C= | CA1332723942 | COL4A4 | c.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= | |
2 | g.227008171C>G | CA351140754 | COL4A4 | c.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 | |
2 | g.227008171C>T | CA2144104 | COL4A4 | c.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 |
2 | g.227008171_227008172del | CA2144103 | COL4A4 | c.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 |
2 | g.227008174_227008176del | CA2663402693 | COL4A4 | c.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 |
2 | g.227008172A>C | CA351140755 | COL4A4 | c.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 | |
2 | g.227008172A>G | CA351140756 | COL4A4 | c.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 | |
2 | g.227008172A>T | CA351140757 | COL4A4 | c.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 | |
2 | g.227008173T>A | CA351140759 | COL4A4 | c.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 | |
2 | g.227008173T>C | CA351140760 | COL4A4 | c.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 | |
2 | g.227008173T>G | CA351140758 | COL4A4 | c.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 | |
2 | g.227008173T= | CA1332723943 | COL4A4 | c.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= | |
2 | g.227008173_227008174insGG | CA2144105 | COL4A4 | c.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 |
2 | g.227008174C>A | CA351140761 | COL4A4 | c.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 | |
2 | g.227008174C>G | CA351140762 | COL4A4 | c.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 | |
2 | g.227008174C>T | CA351140763 | COL4A4 | c.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 | |
2 | g.227008175A= | CA1332723944 | COL4A4 | c.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= | |
2 | g.227008175A>C | CA351140764 | COL4A4 | c.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 | |
2 | g.227008175A>G | CA351140765 | COL4A4 | c.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 |
2 | g.227008175A>T | CA351140766 | COL4A4 | c.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 |
2 | g.227008176T>A | CA351140767 | COL4A4 | c.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 | |
2 | g.227008176T>C | CA351140768 | COL4A4 | c.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 |
2 | g.227008176T>G | CA351140769 | COL4A4 | c.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 |
2 | g.227008176T= | CA1332723945 | COL4A4 | c.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= | |
2 | g.227008177G>A | CA431671924 | COL4A4 | c.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 | |
2 | g.227008177G>C | CA431671925 | COL4A4 | c.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 | |
2 | g.227008177G= | CA1332723946 | COL4A4 | c.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= | |
2 | g.227008177G>T | CA2144106 | COL4A4 | c.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 |
2 | g.227008180del | CA2740098046 | COL4A4 | c.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 | ClinVar |
2 | g.227008178G>A | CA351140770 | COL4A4 | c.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 | |
2 | g.227008178G>C | CA351140771 | COL4A4 | c.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 | |
2 | g.227008178G>T | CA351140772 | COL4A4 | c.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 | |
2 | g.227008179G>A | CA351140775 | COL4A4 | c.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 | |
2 | g.227008179G>C | CA351140774 | COL4A4 | c.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 | |
2 | g.227008179G>T | CA351140773 | COL4A4 | c.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 | |
2 | g.227008180G>A | CA431671928 | COL4A4 | c.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 | |
2 | g.227008180G>C | CA431671926 | COL4A4 | c.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 | |
2 | g.227008180G>T | CA431671927 | COL4A4 | c.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 | |
2 | g.227008181del | CA2586965584 | COL4A4 | c.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 |
2 | g.227008181A= | CA1332723947 | COL4A4 | c.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= | |
2 | g.227008181A>C | CA351140776 | COL4A4 | c.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 | |
2 | g.227008181A>G | CA351140777 | COL4A4 | c.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 |
2 | g.227008181A>T | CA351140778 | COL4A4 | c.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 | |
2 | g.227008181dup | CA2573135353 | COL4A4 | c.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 |
2 | g.227008182G>A | CA2144107 | COL4A4 | c.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 |
2 | g.227008182G>C | CA351140779 | COL4A4 | c.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 |
2 | g.227008182G= | CA1332723948 | COL4A4 | c.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= | |
2 | g.227008182G>T | CA351140780 | COL4A4 | c.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 | |
2 | g.227008185del | CA2580065936 | COL4A4 | c.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 |
2 | g.227008183G>A | CA2144108 | COL4A4 | c.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 |
2 | g.227008183G>C | CA431671932 | COL4A4 | c.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 | |
2 | g.227008183G= | CA1332723949 | COL4A4 | c.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= | |
2 | g.227008183G>T | CA431671933 | COL4A4 | c.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 | |
2 | g.227008184G>A | CA2144109 | COL4A4 | c.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 |
2 | g.227008184G>C | CA351140781 | COL4A4 | c.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 |
2 | g.227008184G= | CA1332723950 | COL4A4 | c.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= | |
2 | g.227008184G>T | CA351140782 | COL4A4 | c.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 | |
2 | g.227008185G>A | CA351140783 | COL4A4 | c.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 |
2 | g.227008185G>C | CA351140784 | COL4A4 | c.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 | |
2 | g.227008185G>T | CA351140785 | COL4A4 | c.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 | |
2 | g.227008186C>A | CA431671936 | COL4A4 | c.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 | |
2 | g.227008186C= | CA1332723951 | COL4A4 | c.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= | |
2 | g.227008186C>G | CA431671937 | COL4A4 | c.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 | |
2 | g.227008186C>T | CA2144110 | COL4A4 | c.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 |
2 | g.227008187G>A | CA2144111 | COL4A4 | c.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 |
2 | g.227008187G>C | CA351140787 | COL4A4 | c.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 | |
2 | g.227008187G= | CA1332723952 | COL4A4 | c.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= | |
2 | g.227008187G>T | CA351140786 | COL4A4 | c.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 | |
2 | g.227008188C>A | CA351140788 | COL4A4 | c.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 |
2 | g.227008188C>G | CA351140789 | COL4A4 | c.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 |
2 | g.227008188C>T | CA351140790 | COL4A4 | c.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 | |
2 | g.227008189A>C | CA431671938 | COL4A4 | c.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 |
2 | g.227008189A>G | CA431671939 | COL4A4 | c.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 |
2 | g.227008189A>T | CA431671940 | COL4A4 | c.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 | |
2 | g.227008190G>A | CA351140791 | COL4A4 | c.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 | |
2 | g.227008190G>C | CA351140792 | COL4A4 | c.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 |
2 | g.227008190G>T | CA351140793 | COL4A4 | c.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 | |
2 | g.227008192_227008193dup | CA2663402742 | COL4A4 | c.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 |
2 | g.227008191C>A | CA351140794 | COL4A4 | c.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 |
2 | g.227008191C= | CA1332723953 | COL4A4 | c.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= | |
2 | g.227008191C>G | CA351140795 | COL4A4 | c.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 | |
2 | g.227008191C>T | CA2144112 | COL4A4 | c.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 |
2 | g.227008192G>A | CA2144113 | COL4A4 | c.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 |
2 | g.227008192G>C | CA351140796 | COL4A4 | c.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 | |
2 | g.227008192G= | CA1332723954 | COL4A4 | c.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= | |
2 | g.227008192G>T | CA351140797 | COL4A4 | c.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 |
2 | g.227008193C>A | CA351140800 | COL4A4 | c.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 | |
2 | g.227008193C>G | CA351140798 | COL4A4 | c.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 | |
2 | g.227008193C>T | CA351140799 | COL4A4 | c.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 | |
2 | g.227008194T>A | CA67238299 | COL4A4 | c.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 |
2 | g.227008194T>C | CA351140801 | COL4A4 | c.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 | |
2 | g.227008194T>G | CA351140802 | COL4A4 | c.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 | |
2 | g.227008194T= | CA1332723955 | COL4A4 | c.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= | |
2 | g.227008195G>A | CA431671947 | COL4A4 | c.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 | |
2 | g.227008195G>C | CA431671948 | COL4A4 | c.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 | |
2 | g.227008195G>T | CA431671949 | COL4A4 | c.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 | |
2 | g.227008195_227008199delinsGGCCA | CA1332723956 | COL4A4 | c.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 | |
2 | g.227008196G>A | CA351140803 | COL4A4 | c.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 | |
2 | g.227008196G>C | CA351140804 | COL4A4 | c.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 |
2 | g.227008196G= | CA1332723957 | COL4A4 | c.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= | |
2 | g.227008196G>T | CA351140805 | COL4A4 | c.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 |
2 | g.227008201_227008204del | CA915941765 | COL4A4 | c.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 |
2 | g.227008197C>A | CA351140806 | COL4A4 | c.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 | |
2 | g.227008197C= | CA1332723958 | COL4A4 | c.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= | |
2 | g.227008197C>G | CA351140807 | COL4A4 | c.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 |
2 | g.227008197C>T | CA2144114 | COL4A4 | c.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 |
2 | g.227008198C>A | CA431671953 | COL4A4 | c.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 | |
2 | g.227008198C>G | CA431671954 | COL4A4 | c.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 | |
2 | g.227008198C>T | CA431671955 | COL4A4 | c.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 | |
2 | g.227008199A>C | CA351140808 | COL4A4 | c.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 | |
2 | g.227008199A>G | CA351140809 | COL4A4 | c.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 | |
2 | g.227008199A>T | CA351140810 | COL4A4 | c.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 |
2 | g.227008200G>A | CA431671956 | COL4A4 | c.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 | |
2 | g.227008200G>C | CA351140811 | COL4A4 | c.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 | |
2 | g.227008200G>T | CA351140812 | COL4A4 | c.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 | |
2 | g.227008201C>A | CA351140813 | COL4A4 | c.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 | |
2 | g.227008201C>G | CA351140815 | COL4A4 | c.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 | |
2 | g.227008201C>T | CA351140814 | COL4A4 | c.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 | |
2 | g.227008202C>A | CA351140816 | COL4A4 | c.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 | |
2 | g.227008202C= | CA1332723959 | COL4A4 | c.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= | |
2 | g.227008202C>G | CA351140817 | COL4A4 | c.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 | |
2 | g.227008202C>T | CA351140818 | COL4A4 | c.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 | ClinVar |
2 | g.227008203A= | CA1332723960 | COL4A4 | c.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= | |
2 | g.227008203A>C | CA351140819 | COL4A4 | c.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 | |
2 | g.227008203A>G | CA351140820 | COL4A4 | c.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 |
2 | g.227008203A>T | CA351140821 | COL4A4 | c.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 | |
2 | g.227008203_227008206dup | CA658821839 | COL4A4 | c.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 |
2 | g.227008204G>A | CA431671959 | COL4A4 | c.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 | |
2 | g.227008204G>C | CA67238300 | COL4A4 | c.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 |
2 | g.227008204G= | CA1332723961 | COL4A4 | c.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= | |
2 | g.227008204G>T | CA351140822 | COL4A4 | c.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 | |
2 | g.227008205T>A | CA351140823 | COL4A4 | c.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 | |
2 | g.227008205T>C | CA351140824 | COL4A4 | c.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 | |
2 | g.227008205T>G | CA351140825 | COL4A4 | c.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 | |
2 | g.227008206A>C | CA351140828 | COL4A4 | c.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 | |
2 | g.227008206A>G | CA351140827 | COL4A4 | c.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 | |
2 | g.227008206A>T | CA351140826 | COL4A4 | c.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 | |
2 | g.227008207G>A | CA431671963 | COL4A4 | c.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 |
2 | g.227008207G>C | CA431671964 | COL4A4 | c.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 | |
2 | g.227008207G= | CA1332723962 | COL4A4 | c.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= | |
2 | g.227008207G>T | CA431671965 | COL4A4 | c.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 | |
2 | g.227008208G>A | CA351140829 | COL4A4 | c.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 | |
2 | g.227008208G>C | CA351140830 | COL4A4 | c.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 | |
2 | g.227008208G>T | CA351140831 | COL4A4 | c.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 | |
2 | g.227008209A>C | CA351140832 | COL4A4 | c.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 | |
2 | g.227008209A>G | CA351140833 | COL4A4 | c.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 | |
2 | g.227008209A>T | CA351140834 | COL4A4 | c.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 | |
2 | g.227008210T>A | CA351140835 | COL4A4 | c.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 | |
2 | g.227008210T>C | CA431671969 | COL4A4 | c.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 |
2 | g.227008210T>G | CA351140836 | COL4A4 | c.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 | |
2 | g.227008211C>A | CA351140837 | COL4A4 | c.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 |
2 | g.227008211C= | CA1332723963 | COL4A4 | c.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= | |
2 | g.227008211C>G | CA351140838 | COL4A4 | c.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 | |
2 | g.227008211C>T | CA351140839 | COL4A4 | c.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 |
2 | g.227008212T>A | CA351140840 | COL4A4 | c.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 | |
2 | g.227008212T>C | CA351140841 | COL4A4 | c.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 | |
2 | g.227008212T>G | CA431671973 | COL4A4 | c.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 | |
2 | g.227008213G>A | CA431671974 | COL4A4 | c.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 | |
2 | g.227008213G>C | CA351140842 | COL4A4 | c.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 |
2 | g.227008213G= | CA1332723964 | COL4A4 | c.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= | |
2 | g.227008213G>T | CA351140843 | COL4A4 | c.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 | |
2 | g.227008214T>A | CA351140844 | COL4A4 | c.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 | |
2 | g.227008214T>C | CA351140845 | COL4A4 | c.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 | |
2 | g.227008214T>G | CA351140846 | COL4A4 | c.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 | |
2 | g.227008215C>A | CA351140847 | COL4A4 | c.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 | |
2 | g.227008215C= | CA1332723965 | COL4A4 | c.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= | |
2 | g.227008215C>G | CA351140848 | COL4A4 | c.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 | |
2 | g.227008215C>T | CA2144115 | COL4A4 | c.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 |
2 | g.227008216G>A | CA431671978 | COL4A4 | c.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 |
2 | g.227008216G>C | CA351140849 | COL4A4 | c.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 |
2 | g.227008216G= | CA1332723966 | COL4A4 | c.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= | |
2 | g.227008216G>T | CA351140850 | COL4A4 | c.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 | |
2 | g.227008217T>A | CA351140851 | COL4A4 | c.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 | |
2 | g.227008217T>C | CA351140852 | COL4A4 | c.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 |
2 | g.227008217T>G | CA351140853 | COL4A4 | c.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 | |
2 | g.227008217T= | CA1332723967 | COL4A4 | c.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= | |
2 | g.227008219dup | CA916790153 | COL4A4 | c.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 |
2 | g.227008218T>A | CA351140854 | COL4A4 | c.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 | |
2 | g.227008218T>C | CA351140855 | COL4A4 | c.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 | |
2 | g.227008218T>G | CA351140856 | COL4A4 | c.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 |