Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.227008022_227008048dup | CA431672049 | COL4A4 | c.383_409dup (p.Leu136_Met137insSerLeuTrpIleGlyTyrSerPheLeu) c.4781_4807dup (p.Leu1602_Met1603insSerLeuTrpIleGlyTyrSerPheLeu) c.4226_4252dup (p.Leu1417_Met1418insSerLeuTrpIleGlyTyrSerPheLeu) c.4592_4618dup (p.Leu1539_Met1540insSerLeuTrpIleGlyTyrSerPheLeu) c.4216+14002_4216+14028dup (n.4216+14002_4216+14028dup) c.4700_4726dup (p.Leu1575_Met1576insSerLeuTrpIleGlyTyrSerPheLeu) c.4673_4699dup (p.Leu1566_Met1567insSerLeuTrpIleGlyTyrSerPheLeu) c.*114_*140dup (n.*114_*140dup) c.3107_3133dup (p.Leu1044_Met1045insSerLeuTrpIleGlyTyrSerPheLeu) n.5091_5117dup n.4526+14002_4526+14028dup c.4664_4690dup (p.Leu1563_Met1564insSerLeuTrpIleGlyTyrSerPheLeu) n.5107_5133dup n.4853_4879dup n.4542+14002_4542+14028dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008024_227008030del | CA2663402505 | COL4A4 | c.399_405del (p.Ser134Ter) c.4797_4803del (p.Ser1600Ter) c.4242_4248del (p.Ser1415Ter) c.4608_4614del (p.Ser1537Ter) c.4216+14018_4216+14024del (n.4216+14018_4216+14024del) c.4716_4722del (p.Ser1573Ter) c.4689_4695del (p.Ser1564Ter) c.*130_*136del (n.*130_*136del) c.3123_3129del (p.Ser1042Ter) n.5107_5113del n.4526+14018_4526+14024del c.4680_4686del (p.Ser1561Ter) n.5123_5129del n.4869_4875del n.4542+14018_4542+14024del | gnomAD v4 |
2 | g.227008028G>A | CA351140450 | COL4A4 | c.401C>T (p.Ser134Leu) c.4799C>T (p.Ser1600Leu) c.4244C>T (p.Ser1415Leu) c.4610C>T (p.Ser1537Leu) c.4216+14020C>T (n.4216+14020C>T) c.4718C>T (p.Ser1573Leu) c.4691C>T (p.Ser1564Leu) c.*132C>T (n.*132C>T) c.3125C>T (p.Ser1042Leu) n.5109C>T n.4526+14020C>T c.4682C>T (p.Ser1561Leu) n.5125C>T n.4871C>T n.4542+14020C>T | |
2 | g.227008028G>C | CA351140451 | COL4A4 | c.401C>G (p.Ser134Ter) c.4799C>G (p.Ser1600Ter) c.4244C>G (p.Ser1415Ter) c.4610C>G (p.Ser1537Ter) c.4216+14020C>G (n.4216+14020C>G) c.4718C>G (p.Ser1573Ter) c.4691C>G (p.Ser1564Ter) c.*132C>G (n.*132C>G) c.3125C>G (p.Ser1042Ter) n.5109C>G n.4526+14020C>G c.4682C>G (p.Ser1561Ter) n.5125C>G n.4871C>G n.4542+14020C>G | |
2 | g.227008028G>T | CA351140452 | COL4A4 | c.401C>A (p.Ser134Ter) c.4799C>A (p.Ser1600Ter) c.4244C>A (p.Ser1415Ter) c.4610C>A (p.Ser1537Ter) c.4216+14020C>A (n.4216+14020C>A) c.4718C>A (p.Ser1573Ter) c.4691C>A (p.Ser1564Ter) c.*132C>A (n.*132C>A) c.3125C>A (p.Ser1042Ter) n.5109C>A n.4526+14020C>A c.4682C>A (p.Ser1561Ter) n.5125C>A n.4871C>A n.4542+14020C>A | |
2 | g.227008029A>C | CA351140454 | COL4A4 | c.400T>G (p.Ser134Ala) c.4798T>G (p.Ser1600Ala) c.4243T>G (p.Ser1415Ala) c.4609T>G (p.Ser1537Ala) c.4216+14019T>G (n.4216+14019T>G) c.4717T>G (p.Ser1573Ala) c.4690T>G (p.Ser1564Ala) c.*131T>G (n.*131T>G) c.3124T>G (p.Ser1042Ala) n.5108T>G n.4526+14019T>G c.4681T>G (p.Ser1561Ala) n.5124T>G n.4870T>G n.4542+14019T>G | |
2 | g.227008029A>G | CA351140455 | COL4A4 | c.400T>C (p.Ser134Pro) c.4798T>C (p.Ser1600Pro) c.4243T>C (p.Ser1415Pro) c.4609T>C (p.Ser1537Pro) c.4216+14019T>C (n.4216+14019T>C) c.4717T>C (p.Ser1573Pro) c.4690T>C (p.Ser1564Pro) c.*131T>C (n.*131T>C) c.3124T>C (p.Ser1042Pro) n.5108T>C n.4526+14019T>C c.4681T>C (p.Ser1561Pro) n.5124T>C n.4870T>C n.4542+14019T>C | |
2 | g.227008029A>T | CA351140453 | COL4A4 | c.400T>A (p.Ser134Thr) c.4798T>A (p.Ser1600Thr) c.4243T>A (p.Ser1415Thr) c.4609T>A (p.Ser1537Thr) c.4216+14019T>A (n.4216+14019T>A) c.4717T>A (p.Ser1573Thr) c.4690T>A (p.Ser1564Thr) c.*131T>A (n.*131T>A) c.3124T>A (p.Ser1042Thr) n.5108T>A n.4526+14019T>A c.4681T>A (p.Ser1561Thr) n.5124T>A n.4870T>A n.4542+14019T>A | |
2 | g.227008030A>C | CA351140456 | COL4A4 | c.399T>G (p.Tyr133Ter) c.4797T>G (p.Tyr1599Ter) c.4242T>G (p.Tyr1414Ter) c.4608T>G (p.Tyr1536Ter) c.4216+14018T>G (n.4216+14018T>G) c.4716T>G (p.Tyr1572Ter) c.4689T>G (p.Tyr1563Ter) c.*130T>G (n.*130T>G) c.3123T>G (p.Tyr1041Ter) n.5107T>G n.4526+14018T>G c.4680T>G (p.Tyr1560Ter) n.5123T>G n.4869T>G n.4542+14018T>G | |
2 | g.227008030A>G | CA431672057 | COL4A4 | c.399T>C (p.Tyr133=) c.4797T>C (p.Tyr1599=) c.4242T>C (p.Tyr1414=) c.4608T>C (p.Tyr1536=) c.4216+14018T>C (n.4216+14018T>C) c.4716T>C (p.Tyr1572=) c.4689T>C (p.Tyr1563=) c.*130T>C (n.*130T>C) c.3123T>C (p.Tyr1041=) n.5107T>C n.4526+14018T>C c.4680T>C (p.Tyr1560=) n.5123T>C n.4869T>C n.4542+14018T>C | COSMIC |
2 | g.227008030A>T | CA351140457 | COL4A4 | c.399T>A (p.Tyr133Ter) c.4797T>A (p.Tyr1599Ter) c.4242T>A (p.Tyr1414Ter) c.4608T>A (p.Tyr1536Ter) c.4216+14018T>A (n.4216+14018T>A) c.4716T>A (p.Tyr1572Ter) c.4689T>A (p.Tyr1563Ter) c.*130T>A (n.*130T>A) c.3123T>A (p.Tyr1041Ter) n.5107T>A n.4526+14018T>A c.4680T>A (p.Tyr1560Ter) n.5123T>A n.4869T>A n.4542+14018T>A | |
2 | g.227008031T>A | CA351140458 | COL4A4 | c.398A>T (p.Tyr133Phe) c.4796A>T (p.Tyr1599Phe) c.4241A>T (p.Tyr1414Phe) c.4607A>T (p.Tyr1536Phe) c.4216+14017A>T (n.4216+14017A>T) c.4715A>T (p.Tyr1572Phe) c.4688A>T (p.Tyr1563Phe) c.*129A>T (n.*129A>T) c.3122A>T (p.Tyr1041Phe) n.5106A>T n.4526+14017A>T c.4679A>T (p.Tyr1560Phe) n.5122A>T n.4868A>T n.4542+14017A>T | |
2 | g.227008031T>C | CA351140459 | COL4A4 | c.398A>G (p.Tyr133Cys) c.4796A>G (p.Tyr1599Cys) c.4241A>G (p.Tyr1414Cys) c.4607A>G (p.Tyr1536Cys) c.4216+14017A>G (n.4216+14017A>G) c.4715A>G (p.Tyr1572Cys) c.4688A>G (p.Tyr1563Cys) c.*129A>G (n.*129A>G) c.3122A>G (p.Tyr1041Cys) n.5106A>G n.4526+14017A>G c.4679A>G (p.Tyr1560Cys) n.5122A>G n.4868A>G n.4542+14017A>G | |
2 | g.227008031T>G | CA351140460 | COL4A4 | c.398A>C (p.Tyr133Ser) c.4796A>C (p.Tyr1599Ser) c.4241A>C (p.Tyr1414Ser) c.4607A>C (p.Tyr1536Ser) c.4216+14017A>C (n.4216+14017A>C) c.4715A>C (p.Tyr1572Ser) c.4688A>C (p.Tyr1563Ser) c.*129A>C (n.*129A>C) c.3122A>C (p.Tyr1041Ser) n.5106A>C n.4526+14017A>C c.4679A>C (p.Tyr1560Ser) n.5122A>C n.4868A>C n.4542+14017A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008031T= | CA1332723867 | COL4A4 | c.398A= (p.Tyr133=) c.4796A= (p.Tyr1599=) c.4241A= (p.Tyr1414=) c.4607A= (p.Tyr1536=) c.4216+14017A= (n.4216+14017A=) c.4715A= (p.Tyr1572=) c.4688A= (p.Tyr1563=) c.*129A= (n.*129A=) c.3122A= (p.Tyr1041=) n.5106A= n.4526+14017A= c.4679A= (p.Tyr1560=) n.5122A= n.4868A= n.4542+14017A= | |
2 | g.227008032A>C | CA351140461 | COL4A4 | c.397T>G (p.Tyr133Asp) c.4795T>G (p.Tyr1599Asp) c.4240T>G (p.Tyr1414Asp) c.4606T>G (p.Tyr1536Asp) c.4216+14016T>G (n.4216+14016T>G) c.4714T>G (p.Tyr1572Asp) c.4687T>G (p.Tyr1563Asp) c.*128T>G (n.*128T>G) c.3121T>G (p.Tyr1041Asp) n.5105T>G n.4526+14016T>G c.4678T>G (p.Tyr1560Asp) n.5121T>G n.4867T>G n.4542+14016T>G | |
2 | g.227008032A>G | CA351140462 | COL4A4 | c.397T>C (p.Tyr133His) c.4795T>C (p.Tyr1599His) c.4240T>C (p.Tyr1414His) c.4606T>C (p.Tyr1536His) c.4216+14016T>C (n.4216+14016T>C) c.4714T>C (p.Tyr1572His) c.4687T>C (p.Tyr1563His) c.*128T>C (n.*128T>C) c.3121T>C (p.Tyr1041His) n.5105T>C n.4526+14016T>C c.4678T>C (p.Tyr1560His) n.5121T>C n.4867T>C n.4542+14016T>C | |
2 | g.227008032A>T | CA351140463 | COL4A4 | c.397T>A (p.Tyr133Asn) c.4795T>A (p.Tyr1599Asn) c.4240T>A (p.Tyr1414Asn) c.4606T>A (p.Tyr1536Asn) c.4216+14016T>A (n.4216+14016T>A) c.4714T>A (p.Tyr1572Asn) c.4687T>A (p.Tyr1563Asn) c.*128T>A (n.*128T>A) c.3121T>A (p.Tyr1041Asn) n.5105T>A n.4526+14016T>A c.4678T>A (p.Tyr1560Asn) n.5121T>A n.4867T>A n.4542+14016T>A | |
2 | g.227008033C>A | CA431672059 | COL4A4 | c.396G>T (p.Gly132=) c.4794G>T (p.Gly1598=) c.4239G>T (p.Gly1413=) c.4605G>T (p.Gly1535=) c.4216+14015G>T (n.4216+14015G>T) c.4713G>T (p.Gly1571=) c.4686G>T (p.Gly1562=) c.*127G>T (n.*127G>T) c.3120G>T (p.Gly1040=) n.5104G>T n.4526+14015G>T c.4677G>T (p.Gly1559=) n.5120G>T n.4866G>T n.4542+14015G>T | gnomAD v4 |
2 | g.227008033C= | CA1332723868 | COL4A4 | c.396G= (p.Gly132=) c.4794G= (p.Gly1598=) c.4239G= (p.Gly1413=) c.4605G= (p.Gly1535=) c.4216+14015G= (n.4216+14015G=) c.4713G= (p.Gly1571=) c.4686G= (p.Gly1562=) c.*127G= (n.*127G=) c.3120G= (p.Gly1040=) n.5104G= n.4526+14015G= c.4677G= (p.Gly1559=) n.5120G= n.4866G= n.4542+14015G= | |
2 | g.227008033C>G | CA431672060 | COL4A4 | c.396G>C (p.Gly132=) c.4794G>C (p.Gly1598=) c.4239G>C (p.Gly1413=) c.4605G>C (p.Gly1535=) c.4216+14015G>C (n.4216+14015G>C) c.4713G>C (p.Gly1571=) c.4686G>C (p.Gly1562=) c.*127G>C (n.*127G>C) c.3120G>C (p.Gly1040=) n.5104G>C n.4526+14015G>C c.4677G>C (p.Gly1559=) n.5120G>C n.4866G>C n.4542+14015G>C | |
2 | g.227008033C>T | CA2144066 | COL4A4 | c.396G>A (p.Gly132=) c.4794G>A (p.Gly1598=) c.4239G>A (p.Gly1413=) c.4605G>A (p.Gly1535=) c.4216+14015G>A (n.4216+14015G>A) c.4713G>A (p.Gly1571=) c.4686G>A (p.Gly1562=) c.*127G>A (n.*127G>A) c.3120G>A (p.Gly1040=) n.5104G>A n.4526+14015G>A c.4677G>A (p.Gly1559=) n.5120G>A n.4866G>A n.4542+14015G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008033_227008035del | CA2663402511 | COL4A4 | c.394_396del (p.Gly132del) c.4792_4794del (p.Gly1598del) c.4237_4239del (p.Gly1413del) c.4603_4605del (p.Gly1535del) c.4216+14013_4216+14015del (n.4216+14013_4216+14015del) c.4711_4713del (p.Gly1571del) c.4684_4686del (p.Gly1562del) c.*125_*127del (n.*125_*127del) c.3118_3120del (p.Gly1040del) n.5102_5104del n.4526+14013_4526+14015del c.4675_4677del (p.Gly1559del) n.5118_5120del n.4864_4866del n.4542+14013_4542+14015del | gnomAD v4 |
2 | g.227008034C>A | CA351140464 | COL4A4 | c.395G>T (p.Gly132Val) c.4793G>T (p.Gly1598Val) c.4238G>T (p.Gly1413Val) c.4604G>T (p.Gly1535Val) c.4216+14014G>T (n.4216+14014G>T) c.4712G>T (p.Gly1571Val) c.4685G>T (p.Gly1562Val) c.*126G>T (n.*126G>T) c.3119G>T (p.Gly1040Val) n.5103G>T n.4526+14014G>T c.4676G>T (p.Gly1559Val) n.5119G>T n.4865G>T n.4542+14014G>T | |
2 | g.227008034C>G | CA351140465 | COL4A4 | c.395G>C (p.Gly132Ala) c.4793G>C (p.Gly1598Ala) c.4238G>C (p.Gly1413Ala) c.4604G>C (p.Gly1535Ala) c.4216+14014G>C (n.4216+14014G>C) c.4712G>C (p.Gly1571Ala) c.4685G>C (p.Gly1562Ala) c.*126G>C (n.*126G>C) c.3119G>C (p.Gly1040Ala) n.5103G>C n.4526+14014G>C c.4676G>C (p.Gly1559Ala) n.5119G>C n.4865G>C n.4542+14014G>C | |
2 | g.227008034C>T | CA351140466 | COL4A4 | c.395G>A (p.Gly132Glu) c.4793G>A (p.Gly1598Glu) c.4238G>A (p.Gly1413Glu) c.4604G>A (p.Gly1535Glu) c.4216+14014G>A (n.4216+14014G>A) c.4712G>A (p.Gly1571Glu) c.4685G>A (p.Gly1562Glu) c.*126G>A (n.*126G>A) c.3119G>A (p.Gly1040Glu) n.5103G>A n.4526+14014G>A c.4676G>A (p.Gly1559Glu) n.5119G>A n.4865G>A n.4542+14014G>A | |
2 | g.227008035C>A | CA351140468 | COL4A4 | c.394G>T (p.Gly132Trp) c.4792G>T (p.Gly1598Trp) c.4237G>T (p.Gly1413Trp) c.4603G>T (p.Gly1535Trp) c.4216+14013G>T (n.4216+14013G>T) c.4711G>T (p.Gly1571Trp) c.4684G>T (p.Gly1562Trp) c.*125G>T (n.*125G>T) c.3118G>T (p.Gly1040Trp) n.5102G>T n.4526+14013G>T c.4675G>T (p.Gly1559Trp) n.5118G>T n.4864G>T n.4542+14013G>T | gnomAD v4 |
2 | g.227008035C= | CA1332723869 | COL4A4 | c.394G= (p.Gly132=) c.4792G= (p.Gly1598=) c.4237G= (p.Gly1413=) c.4603G= (p.Gly1535=) c.4216+14013G= (n.4216+14013G=) c.4711G= (p.Gly1571=) c.4684G= (p.Gly1562=) c.*125G= (n.*125G=) c.3118G= (p.Gly1040=) n.5102G= n.4526+14013G= c.4675G= (p.Gly1559=) n.5118G= n.4864G= n.4542+14013G= | |
2 | g.227008035C>G | CA351140469 | COL4A4 | c.394G>C (p.Gly132Arg) c.4792G>C (p.Gly1598Arg) c.4237G>C (p.Gly1413Arg) c.4603G>C (p.Gly1535Arg) c.4216+14013G>C (n.4216+14013G>C) c.4711G>C (p.Gly1571Arg) c.4684G>C (p.Gly1562Arg) c.*125G>C (n.*125G>C) c.3118G>C (p.Gly1040Arg) n.5102G>C n.4526+14013G>C c.4675G>C (p.Gly1559Arg) n.5118G>C n.4864G>C n.4542+14013G>C | |
2 | g.227008035C>T | CA351140467 | COL4A4 | c.394G>A (p.Gly132Arg) c.4792G>A (p.Gly1598Arg) c.4237G>A (p.Gly1413Arg) c.4603G>A (p.Gly1535Arg) c.4216+14013G>A (n.4216+14013G>A) c.4711G>A (p.Gly1571Arg) c.4684G>A (p.Gly1562Arg) c.*125G>A (n.*125G>A) c.3118G>A (p.Gly1040Arg) n.5102G>A n.4526+14013G>A c.4675G>A (p.Gly1559Arg) n.5118G>A n.4864G>A n.4542+14013G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008036G>A | CA2144067 | COL4A4 | c.393C>T (p.Ile131=) c.4791C>T (p.Ile1597=) c.4236C>T (p.Ile1412=) c.4602C>T (p.Ile1534=) c.4216+14012C>T (n.4216+14012C>T) c.4710C>T (p.Ile1570=) c.4683C>T (p.Ile1561=) c.*124C>T (n.*124C>T) c.3117C>T (p.Ile1039=) n.5101C>T n.4526+14012C>T c.4674C>T (p.Ile1558=) n.5117C>T n.4863C>T n.4542+14012C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227008036G>C | CA351140470 | COL4A4 | c.393C>G (p.Ile131Met) c.4791C>G (p.Ile1597Met) c.4236C>G (p.Ile1412Met) c.4602C>G (p.Ile1534Met) c.4216+14012C>G (n.4216+14012C>G) c.4710C>G (p.Ile1570Met) c.4683C>G (p.Ile1561Met) c.*124C>G (n.*124C>G) c.3117C>G (p.Ile1039Met) n.5101C>G n.4526+14012C>G c.4674C>G (p.Ile1558Met) n.5117C>G n.4863C>G n.4542+14012C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008036G= | CA1332723870 | COL4A4 | c.393C= (p.Ile131=) c.4791C= (p.Ile1597=) c.4236C= (p.Ile1412=) c.4602C= (p.Ile1534=) c.4216+14012C= (n.4216+14012C=) c.4710C= (p.Ile1570=) c.4683C= (p.Ile1561=) c.*124C= (n.*124C=) c.3117C= (p.Ile1039=) n.5101C= n.4526+14012C= c.4674C= (p.Ile1558=) n.5117C= n.4863C= n.4542+14012C= | |
2 | g.227008036G>T | CA431672061 | COL4A4 | c.393C>A (p.Ile131=) c.4791C>A (p.Ile1597=) c.4236C>A (p.Ile1412=) c.4602C>A (p.Ile1534=) c.4216+14012C>A (n.4216+14012C>A) c.4710C>A (p.Ile1570=) c.4683C>A (p.Ile1561=) c.*124C>A (n.*124C>A) c.3117C>A (p.Ile1039=) n.5101C>A n.4526+14012C>A c.4674C>A (p.Ile1558=) n.5117C>A n.4863C>A n.4542+14012C>A | |
2 | g.227008037A>C | CA351140471 | COL4A4 | c.392T>G (p.Ile131Ser) c.4790T>G (p.Ile1597Ser) c.4235T>G (p.Ile1412Ser) c.4601T>G (p.Ile1534Ser) c.4216+14011T>G (n.4216+14011T>G) c.4709T>G (p.Ile1570Ser) c.4682T>G (p.Ile1561Ser) c.*123T>G (n.*123T>G) c.3116T>G (p.Ile1039Ser) n.5100T>G n.4526+14011T>G c.4673T>G (p.Ile1558Ser) n.5116T>G n.4862T>G n.4542+14011T>G | |
2 | g.227008037A>G | CA351140472 | COL4A4 | c.392T>C (p.Ile131Thr) c.4790T>C (p.Ile1597Thr) c.4235T>C (p.Ile1412Thr) c.4601T>C (p.Ile1534Thr) c.4216+14011T>C (n.4216+14011T>C) c.4709T>C (p.Ile1570Thr) c.4682T>C (p.Ile1561Thr) c.*123T>C (n.*123T>C) c.3116T>C (p.Ile1039Thr) n.5100T>C n.4526+14011T>C c.4673T>C (p.Ile1558Thr) n.5116T>C n.4862T>C n.4542+14011T>C | |
2 | g.227008037A>T | CA351140473 | COL4A4 | c.392T>A (p.Ile131Asn) c.4790T>A (p.Ile1597Asn) c.4235T>A (p.Ile1412Asn) c.4601T>A (p.Ile1534Asn) c.4216+14011T>A (n.4216+14011T>A) c.4709T>A (p.Ile1570Asn) c.4682T>A (p.Ile1561Asn) c.*123T>A (n.*123T>A) c.3116T>A (p.Ile1039Asn) n.5100T>A n.4526+14011T>A c.4673T>A (p.Ile1558Asn) n.5116T>A n.4862T>A n.4542+14011T>A | COSMIC |
2 | g.227008038T>A | CA351140476 | COL4A4 | c.391A>T (p.Ile131Phe) c.4789A>T (p.Ile1597Phe) c.4234A>T (p.Ile1412Phe) c.4600A>T (p.Ile1534Phe) c.4216+14010A>T (n.4216+14010A>T) c.4708A>T (p.Ile1570Phe) c.4681A>T (p.Ile1561Phe) c.*122A>T (n.*122A>T) c.3115A>T (p.Ile1039Phe) n.5099A>T n.4526+14010A>T c.4672A>T (p.Ile1558Phe) n.5115A>T n.4861A>T n.4542+14010A>T | |
2 | g.227008038T>C | CA351140474 | COL4A4 | c.391A>G (p.Ile131Val) c.4789A>G (p.Ile1597Val) c.4234A>G (p.Ile1412Val) c.4600A>G (p.Ile1534Val) c.4216+14010A>G (n.4216+14010A>G) c.4708A>G (p.Ile1570Val) c.4681A>G (p.Ile1561Val) c.*122A>G (n.*122A>G) c.3115A>G (p.Ile1039Val) n.5099A>G n.4526+14010A>G c.4672A>G (p.Ile1558Val) n.5115A>G n.4861A>G n.4542+14010A>G | |
2 | g.227008038T>G | CA351140475 | COL4A4 | c.391A>C (p.Ile131Leu) c.4789A>C (p.Ile1597Leu) c.4234A>C (p.Ile1412Leu) c.4600A>C (p.Ile1534Leu) c.4216+14010A>C (n.4216+14010A>C) c.4708A>C (p.Ile1570Leu) c.4681A>C (p.Ile1561Leu) c.*122A>C (n.*122A>C) c.3115A>C (p.Ile1039Leu) n.5099A>C n.4526+14010A>C c.4672A>C (p.Ile1558Leu) n.5115A>C n.4861A>C n.4542+14010A>C | |
2 | g.227008039C>A | CA351140477 | COL4A4 | c.390G>T (p.Trp130Cys) c.4788G>T (p.Trp1596Cys) c.4233G>T (p.Trp1411Cys) c.4599G>T (p.Trp1533Cys) c.4216+14009G>T (n.4216+14009G>T) c.4707G>T (p.Trp1569Cys) c.4680G>T (p.Trp1560Cys) c.*121G>T (n.*121G>T) c.3114G>T (p.Trp1038Cys) n.5098G>T n.4526+14009G>T c.4671G>T (p.Trp1557Cys) n.5114G>T n.4860G>T n.4542+14009G>T | |
2 | g.227008039C= | CA1332723871 | COL4A4 | c.390G= (p.Trp130=) c.4788G= (p.Trp1596=) c.4233G= (p.Trp1411=) c.4599G= (p.Trp1533=) c.4216+14009G= (n.4216+14009G=) c.4707G= (p.Trp1569=) c.4680G= (p.Trp1560=) c.*121G= (n.*121G=) c.3114G= (p.Trp1038=) n.5098G= n.4526+14009G= c.4671G= (p.Trp1557=) n.5114G= n.4860G= n.4542+14009G= | |
2 | g.227008039C>G | CA351140478 | COL4A4 | c.390G>C (p.Trp130Cys) c.4788G>C (p.Trp1596Cys) c.4233G>C (p.Trp1411Cys) c.4599G>C (p.Trp1533Cys) c.4216+14009G>C (n.4216+14009G>C) c.4707G>C (p.Trp1569Cys) c.4680G>C (p.Trp1560Cys) c.*121G>C (n.*121G>C) c.3114G>C (p.Trp1038Cys) n.5098G>C n.4526+14009G>C c.4671G>C (p.Trp1557Cys) n.5114G>C n.4860G>C n.4542+14009G>C | |
2 | g.227008039C>T | CA2144068 | COL4A4 | c.390G>A (p.Trp130Ter) c.4788G>A (p.Trp1596Ter) c.4233G>A (p.Trp1411Ter) c.4599G>A (p.Trp1533Ter) c.4216+14009G>A (n.4216+14009G>A) c.4707G>A (p.Trp1569Ter) c.4680G>A (p.Trp1560Ter) c.*121G>A (n.*121G>A) c.3114G>A (p.Trp1038Ter) n.5098G>A n.4526+14009G>A c.4671G>A (p.Trp1557Ter) n.5114G>A n.4860G>A n.4542+14009G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.227008040C>A | CA351140479 | COL4A4 | c.389G>T (p.Trp130Leu) c.4787G>T (p.Trp1596Leu) c.4232G>T (p.Trp1411Leu) c.4598G>T (p.Trp1533Leu) c.4216+14008G>T (n.4216+14008G>T) c.4706G>T (p.Trp1569Leu) c.4679G>T (p.Trp1560Leu) c.*120G>T (n.*120G>T) c.3113G>T (p.Trp1038Leu) n.5097G>T n.4526+14008G>T c.4670G>T (p.Trp1557Leu) n.5113G>T n.4859G>T n.4542+14008G>T | |
2 | g.227008040C= | CA1332723872 | COL4A4 | c.389G= (p.Trp130=) c.4787G= (p.Trp1596=) c.4232G= (p.Trp1411=) c.4598G= (p.Trp1533=) c.4216+14008G= (n.4216+14008G=) c.4706G= (p.Trp1569=) c.4679G= (p.Trp1560=) c.*120G= (n.*120G=) c.3113G= (p.Trp1038=) n.5097G= n.4526+14008G= c.4670G= (p.Trp1557=) n.5113G= n.4859G= n.4542+14008G= | |
2 | g.227008040C>G | CA351140480 | COL4A4 | c.389G>C (p.Trp130Ser) c.4787G>C (p.Trp1596Ser) c.4232G>C (p.Trp1411Ser) c.4598G>C (p.Trp1533Ser) c.4216+14008G>C (n.4216+14008G>C) c.4706G>C (p.Trp1569Ser) c.4679G>C (p.Trp1560Ser) c.*120G>C (n.*120G>C) c.3113G>C (p.Trp1038Ser) n.5097G>C n.4526+14008G>C c.4670G>C (p.Trp1557Ser) n.5113G>C n.4859G>C n.4542+14008G>C | |
2 | g.227008040C>T | CA351140481 | COL4A4 | c.389G>A (p.Trp130Ter) c.4787G>A (p.Trp1596Ter) c.4232G>A (p.Trp1411Ter) c.4598G>A (p.Trp1533Ter) c.4216+14008G>A (n.4216+14008G>A) c.4706G>A (p.Trp1569Ter) c.4679G>A (p.Trp1560Ter) c.*120G>A (n.*120G>A) c.3113G>A (p.Trp1038Ter) n.5097G>A n.4526+14008G>A c.4670G>A (p.Trp1557Ter) n.5113G>A n.4859G>A n.4542+14008G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227008041A>C | CA351140484 | COL4A4 | c.388T>G (p.Trp130Gly) c.4786T>G (p.Trp1596Gly) c.4231T>G (p.Trp1411Gly) c.4597T>G (p.Trp1533Gly) c.4216+14007T>G (n.4216+14007T>G) c.4705T>G (p.Trp1569Gly) c.4678T>G (p.Trp1560Gly) c.*119T>G (n.*119T>G) c.3112T>G (p.Trp1038Gly) n.5096T>G n.4526+14007T>G c.4669T>G (p.Trp1557Gly) n.5112T>G n.4858T>G n.4542+14007T>G | |
2 | g.227008041A>G | CA351140483 | COL4A4 | c.388T>C (p.Trp130Arg) c.4786T>C (p.Trp1596Arg) c.4231T>C (p.Trp1411Arg) c.4597T>C (p.Trp1533Arg) c.4216+14007T>C (n.4216+14007T>C) c.4705T>C (p.Trp1569Arg) c.4678T>C (p.Trp1560Arg) c.*119T>C (n.*119T>C) c.3112T>C (p.Trp1038Arg) n.5096T>C n.4526+14007T>C c.4669T>C (p.Trp1557Arg) n.5112T>C n.4858T>C n.4542+14007T>C | |
2 | g.227008041A>T | CA351140482 | COL4A4 | c.388T>A (p.Trp130Arg) c.4786T>A (p.Trp1596Arg) c.4231T>A (p.Trp1411Arg) c.4597T>A (p.Trp1533Arg) c.4216+14007T>A (n.4216+14007T>A) c.4705T>A (p.Trp1569Arg) c.4678T>A (p.Trp1560Arg) c.*119T>A (n.*119T>A) c.3112T>A (p.Trp1038Arg) n.5096T>A n.4526+14007T>A c.4669T>A (p.Trp1557Arg) n.5112T>A n.4858T>A n.4542+14007T>A | |
2 | g.227008042G>A | CA431672063 | COL4A4 | c.387C>T (p.Leu129=) c.4785C>T (p.Leu1595=) c.4230C>T (p.Leu1410=) c.4596C>T (p.Leu1532=) c.4216+14006C>T (n.4216+14006C>T) c.4704C>T (p.Leu1568=) c.4677C>T (p.Leu1559=) c.*118C>T (n.*118C>T) c.3111C>T (p.Leu1037=) n.5095C>T n.4526+14006C>T c.4668C>T (p.Leu1556=) n.5111C>T n.4857C>T n.4542+14006C>T | |
2 | g.227008042G>C | CA431672065 | COL4A4 | c.387C>G (p.Leu129=) c.4785C>G (p.Leu1595=) c.4230C>G (p.Leu1410=) c.4596C>G (p.Leu1532=) c.4216+14006C>G (n.4216+14006C>G) c.4704C>G (p.Leu1568=) c.4677C>G (p.Leu1559=) c.*118C>G (n.*118C>G) c.3111C>G (p.Leu1037=) n.5095C>G n.4526+14006C>G c.4668C>G (p.Leu1556=) n.5111C>G n.4857C>G n.4542+14006C>G | |
2 | g.227008042G>T | CA431672064 | COL4A4 | c.387C>A (p.Leu129=) c.4785C>A (p.Leu1595=) c.4230C>A (p.Leu1410=) c.4596C>A (p.Leu1532=) c.4216+14006C>A (n.4216+14006C>A) c.4704C>A (p.Leu1568=) c.4677C>A (p.Leu1559=) c.*118C>A (n.*118C>A) c.3111C>A (p.Leu1037=) n.5095C>A n.4526+14006C>A c.4668C>A (p.Leu1556=) n.5111C>A n.4857C>A n.4542+14006C>A | |
2 | g.227008043A= | CA1332723873 | COL4A4 | c.386T= (p.Leu129=) c.4784T= (p.Leu1595=) c.4229T= (p.Leu1410=) c.4595T= (p.Leu1532=) c.4216+14005T= (n.4216+14005T=) c.4703T= (p.Leu1568=) c.4676T= (p.Leu1559=) c.*117T= (n.*117T=) c.3110T= (p.Leu1037=) n.5094T= n.4526+14005T= c.4667T= (p.Leu1556=) n.5110T= n.4856T= n.4542+14005T= | |
2 | g.227008043A>C | CA351140486 | COL4A4 | c.386T>G (p.Leu129Arg) c.4784T>G (p.Leu1595Arg) c.4229T>G (p.Leu1410Arg) c.4595T>G (p.Leu1532Arg) c.4216+14005T>G (n.4216+14005T>G) c.4703T>G (p.Leu1568Arg) c.4676T>G (p.Leu1559Arg) c.*117T>G (n.*117T>G) c.3110T>G (p.Leu1037Arg) n.5094T>G n.4526+14005T>G c.4667T>G (p.Leu1556Arg) n.5110T>G n.4856T>G n.4542+14005T>G | |
2 | g.227008043A>G | CA351140485 | COL4A4 | c.386T>C (p.Leu129Pro) c.4784T>C (p.Leu1595Pro) c.4229T>C (p.Leu1410Pro) c.4595T>C (p.Leu1532Pro) c.4216+14005T>C (n.4216+14005T>C) c.4703T>C (p.Leu1568Pro) c.4676T>C (p.Leu1559Pro) c.*117T>C (n.*117T>C) c.3110T>C (p.Leu1037Pro) n.5094T>C n.4526+14005T>C c.4667T>C (p.Leu1556Pro) n.5110T>C n.4856T>C n.4542+14005T>C | ClinVar dbSNP |
2 | g.227008043A>T | CA351140487 | COL4A4 | c.386T>A (p.Leu129His) c.4784T>A (p.Leu1595His) c.4229T>A (p.Leu1410His) c.4595T>A (p.Leu1532His) c.4216+14005T>A (n.4216+14005T>A) c.4703T>A (p.Leu1568His) c.4676T>A (p.Leu1559His) c.*117T>A (n.*117T>A) c.3110T>A (p.Leu1037His) n.5094T>A n.4526+14005T>A c.4667T>A (p.Leu1556His) n.5110T>A n.4856T>A n.4542+14005T>A | |
2 | g.227008044G>A | CA351140488 | COL4A4 | c.385C>T (p.Leu129Phe) c.4783C>T (p.Leu1595Phe) c.4228C>T (p.Leu1410Phe) c.4594C>T (p.Leu1532Phe) c.4216+14004C>T (n.4216+14004C>T) c.4702C>T (p.Leu1568Phe) c.4675C>T (p.Leu1559Phe) c.*116C>T (n.*116C>T) c.3109C>T (p.Leu1037Phe) n.5093C>T n.4526+14004C>T c.4666C>T (p.Leu1556Phe) n.5109C>T n.4855C>T n.4542+14004C>T | |
2 | g.227008044G>C | CA351140489 | COL4A4 | c.385C>G (p.Leu129Val) c.4783C>G (p.Leu1595Val) c.4228C>G (p.Leu1410Val) c.4594C>G (p.Leu1532Val) c.4216+14004C>G (n.4216+14004C>G) c.4702C>G (p.Leu1568Val) c.4675C>G (p.Leu1559Val) c.*116C>G (n.*116C>G) c.3109C>G (p.Leu1037Val) n.5093C>G n.4526+14004C>G c.4666C>G (p.Leu1556Val) n.5109C>G n.4855C>G n.4542+14004C>G | |
2 | g.227008044G>T | CA351140490 | COL4A4 | c.385C>A (p.Leu129Ile) c.4783C>A (p.Leu1595Ile) c.4228C>A (p.Leu1410Ile) c.4594C>A (p.Leu1532Ile) c.4216+14004C>A (n.4216+14004C>A) c.4702C>A (p.Leu1568Ile) c.4675C>A (p.Leu1559Ile) c.*116C>A (n.*116C>A) c.3109C>A (p.Leu1037Ile) n.5093C>A n.4526+14004C>A c.4666C>A (p.Leu1556Ile) n.5109C>A n.4855C>A n.4542+14004C>A | |
2 | g.227008045G>A | CA2144069 | COL4A4 | c.384C>T (p.Ser128=) c.4782C>T (p.Ser1594=) c.4227C>T (p.Ser1409=) c.4593C>T (p.Ser1531=) c.4216+14003C>T (n.4216+14003C>T) c.4701C>T (p.Ser1567=) c.4674C>T (p.Ser1558=) c.*115C>T (n.*115C>T) c.3108C>T (p.Ser1036=) n.5092C>T n.4526+14003C>T c.4665C>T (p.Ser1555=) n.5108C>T n.4854C>T n.4542+14003C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008045G>C | CA351140491 | COL4A4 | c.384C>G (p.Ser128Arg) c.4782C>G (p.Ser1594Arg) c.4227C>G (p.Ser1409Arg) c.4593C>G (p.Ser1531Arg) c.4216+14003C>G (n.4216+14003C>G) c.4701C>G (p.Ser1567Arg) c.4674C>G (p.Ser1558Arg) c.*115C>G (n.*115C>G) c.3108C>G (p.Ser1036Arg) n.5092C>G n.4526+14003C>G c.4665C>G (p.Ser1555Arg) n.5108C>G n.4854C>G n.4542+14003C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008045G= | CA1332723874 | COL4A4 | c.384C= (p.Ser128=) c.4782C= (p.Ser1594=) c.4227C= (p.Ser1409=) c.4593C= (p.Ser1531=) c.4216+14003C= (n.4216+14003C=) c.4701C= (p.Ser1567=) c.4674C= (p.Ser1558=) c.*115C= (n.*115C=) c.3108C= (p.Ser1036=) n.5092C= n.4526+14003C= c.4665C= (p.Ser1555=) n.5108C= n.4854C= n.4542+14003C= | |
2 | g.227008045G>T | CA351140492 | COL4A4 | c.384C>A (p.Ser128Arg) c.4782C>A (p.Ser1594Arg) c.4227C>A (p.Ser1409Arg) c.4593C>A (p.Ser1531Arg) c.4216+14003C>A (n.4216+14003C>A) c.4701C>A (p.Ser1567Arg) c.4674C>A (p.Ser1558Arg) c.*115C>A (n.*115C>A) c.3108C>A (p.Ser1036Arg) n.5092C>A n.4526+14003C>A c.4665C>A (p.Ser1555Arg) n.5108C>A n.4854C>A n.4542+14003C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008046C>A | CA351140493 | COL4A4 | c.383G>T (p.Ser128Ile) c.4781G>T (p.Ser1594Ile) c.4226G>T (p.Ser1409Ile) c.4592G>T (p.Ser1531Ile) c.4216+14002G>T (n.4216+14002G>T) c.4700G>T (p.Ser1567Ile) c.4673G>T (p.Ser1558Ile) c.*114G>T (n.*114G>T) c.3107G>T (p.Ser1036Ile) n.5091G>T n.4526+14002G>T c.4664G>T (p.Ser1555Ile) n.5107G>T n.4853G>T n.4542+14002G>T | |
2 | g.227008046C>G | CA351140494 | COL4A4 | c.383G>C (p.Ser128Thr) c.4781G>C (p.Ser1594Thr) c.4226G>C (p.Ser1409Thr) c.4592G>C (p.Ser1531Thr) c.4216+14002G>C (n.4216+14002G>C) c.4700G>C (p.Ser1567Thr) c.4673G>C (p.Ser1558Thr) c.*114G>C (n.*114G>C) c.3107G>C (p.Ser1036Thr) n.5091G>C n.4526+14002G>C c.4664G>C (p.Ser1555Thr) n.5107G>C n.4853G>C n.4542+14002G>C | |
2 | g.227008046C>T | CA351140495 | COL4A4 | c.383G>A (p.Ser128Asn) c.4781G>A (p.Ser1594Asn) c.4226G>A (p.Ser1409Asn) c.4592G>A (p.Ser1531Asn) c.4216+14002G>A (n.4216+14002G>A) c.4700G>A (p.Ser1567Asn) c.4673G>A (p.Ser1558Asn) c.*114G>A (n.*114G>A) c.3107G>A (p.Ser1036Asn) n.5091G>A n.4526+14002G>A c.4664G>A (p.Ser1555Asn) n.5107G>A n.4853G>A n.4542+14002G>A | |
2 | g.227008047T>A | CA351140496 | COL4A4 | c.382A>T (p.Ser128Cys) c.4780A>T (p.Ser1594Cys) c.4225A>T (p.Ser1409Cys) c.4591A>T (p.Ser1531Cys) c.4216+14001A>T (n.4216+14001A>T) c.4699A>T (p.Ser1567Cys) c.4672A>T (p.Ser1558Cys) c.*113A>T (n.*113A>T) c.3106A>T (p.Ser1036Cys) n.5090A>T n.4526+14001A>T c.4663A>T (p.Ser1555Cys) n.5106A>T n.4852A>T n.4542+14001A>T | |
2 | g.227008047T>C | CA351140497 | COL4A4 | c.382A>G (p.Ser128Gly) c.4780A>G (p.Ser1594Gly) c.4225A>G (p.Ser1409Gly) c.4591A>G (p.Ser1531Gly) c.4216+14001A>G (n.4216+14001A>G) c.4699A>G (p.Ser1567Gly) c.4672A>G (p.Ser1558Gly) c.*113A>G (n.*113A>G) c.3106A>G (p.Ser1036Gly) n.5090A>G n.4526+14001A>G c.4663A>G (p.Ser1555Gly) n.5106A>G n.4852A>G n.4542+14001A>G | gnomAD v4 |
2 | g.227008047T>G | CA351140498 | COL4A4 | c.382A>C (p.Ser128Arg) c.4780A>C (p.Ser1594Arg) c.4225A>C (p.Ser1409Arg) c.4591A>C (p.Ser1531Arg) c.4216+14001A>C (n.4216+14001A>C) c.4699A>C (p.Ser1567Arg) c.4672A>C (p.Ser1558Arg) c.*113A>C (n.*113A>C) c.3106A>C (p.Ser1036Arg) n.5090A>C n.4526+14001A>C c.4663A>C (p.Ser1555Arg) n.5106A>C n.4852A>C n.4542+14001A>C | |
2 | g.227008048C>A | CA351140500 | COL4A4 | c.381G>T (p.Arg127Ser) c.4779G>T (p.Arg1593Ser) c.4224G>T (p.Arg1408Ser) c.4590G>T (p.Arg1530Ser) c.4216+14000G>T (n.4216+14000G>T) c.4698G>T (p.Arg1566Ser) c.4671G>T (p.Arg1557Ser) c.*112G>T (n.*112G>T) c.3105G>T (p.Arg1035Ser) n.5089G>T n.4526+14000G>T c.4662G>T (p.Arg1554Ser) n.5105G>T n.4851G>T n.4542+14000G>T | |
2 | g.227008048C= | CA1332723875 | COL4A4 | c.381G= (p.Arg127=) c.4779G= (p.Arg1593=) c.4224G= (p.Arg1408=) c.4590G= (p.Arg1530=) c.4216+14000G= (n.4216+14000G=) c.4698G= (p.Arg1566=) c.4671G= (p.Arg1557=) c.*112G= (n.*112G=) c.3105G= (p.Arg1035=) n.5089G= n.4526+14000G= c.4662G= (p.Arg1554=) n.5105G= n.4851G= n.4542+14000G= | |
2 | g.227008048C>G | CA351140499 | COL4A4 | c.381G>C (p.Arg127Ser) c.4779G>C (p.Arg1593Ser) c.4224G>C (p.Arg1408Ser) c.4590G>C (p.Arg1530Ser) c.4216+14000G>C (n.4216+14000G>C) c.4698G>C (p.Arg1566Ser) c.4671G>C (p.Arg1557Ser) c.*112G>C (n.*112G>C) c.3105G>C (p.Arg1035Ser) n.5089G>C n.4526+14000G>C c.4662G>C (p.Arg1554Ser) n.5105G>C n.4851G>C n.4542+14000G>C | |
2 | g.227008048C>T | CA2144070 | COL4A4 | c.381G>A (p.Arg127=) c.4779G>A (p.Arg1593=) c.4224G>A (p.Arg1408=) c.4590G>A (p.Arg1530=) c.4216+14000G>A (n.4216+14000G>A) c.4698G>A (p.Arg1566=) c.4671G>A (p.Arg1557=) c.*112G>A (n.*112G>A) c.3105G>A (p.Arg1035=) n.5089G>A n.4526+14000G>A c.4662G>A (p.Arg1554=) n.5105G>A n.4851G>A n.4542+14000G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008049C>A | CA351140501 | COL4A4 | c.380G>T (p.Arg127Met) c.4778G>T (p.Arg1593Met) c.4223G>T (p.Arg1408Met) c.4589G>T (p.Arg1530Met) c.4216+13999G>T (n.4216+13999G>T) c.4697G>T (p.Arg1566Met) c.4670G>T (p.Arg1557Met) c.*111G>T (n.*111G>T) c.3104G>T (p.Arg1035Met) n.5088G>T n.4526+13999G>T c.4661G>T (p.Arg1554Met) n.5104G>T n.4850G>T n.4542+13999G>T | |
2 | g.227008049C= | CA1332723876 | COL4A4 | c.380G= (p.Arg127=) c.4778G= (p.Arg1593=) c.4223G= (p.Arg1408=) c.4589G= (p.Arg1530=) c.4216+13999G= (n.4216+13999G=) c.4697G= (p.Arg1566=) c.4670G= (p.Arg1557=) c.*111G= (n.*111G=) c.3104G= (p.Arg1035=) n.5088G= n.4526+13999G= c.4661G= (p.Arg1554=) n.5104G= n.4850G= n.4542+13999G= | |
2 | g.227008049C>G | CA351140502 | COL4A4 | c.380G>C (p.Arg127Thr) c.4778G>C (p.Arg1593Thr) c.4223G>C (p.Arg1408Thr) c.4589G>C (p.Arg1530Thr) c.4216+13999G>C (n.4216+13999G>C) c.4697G>C (p.Arg1566Thr) c.4670G>C (p.Arg1557Thr) c.*111G>C (n.*111G>C) c.3104G>C (p.Arg1035Thr) n.5088G>C n.4526+13999G>C c.4661G>C (p.Arg1554Thr) n.5104G>C n.4850G>C n.4542+13999G>C | |
2 | g.227008049C>T | CA67238291 | COL4A4 | c.380G>A (p.Arg127Lys) c.4778G>A (p.Arg1593Lys) c.4223G>A (p.Arg1408Lys) c.4589G>A (p.Arg1530Lys) c.4216+13999G>A (n.4216+13999G>A) c.4697G>A (p.Arg1566Lys) c.4670G>A (p.Arg1557Lys) c.*111G>A (n.*111G>A) c.3104G>A (p.Arg1035Lys) n.5088G>A n.4526+13999G>A c.4661G>A (p.Arg1554Lys) n.5104G>A n.4850G>A n.4542+13999G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008050T>A | CA351140503 | COL4A4 | c.379A>T (p.Arg127Trp) c.4777A>T (p.Arg1593Trp) c.4222A>T (p.Arg1408Trp) c.4588A>T (p.Arg1530Trp) c.4216+13998A>T (n.4216+13998A>T) c.4696A>T (p.Arg1566Trp) c.4669A>T (p.Arg1557Trp) c.*110A>T (n.*110A>T) c.3103A>T (p.Arg1035Trp) n.5087A>T n.4526+13998A>T c.4660A>T (p.Arg1554Trp) n.5103A>T n.4849A>T n.4542+13998A>T | |
2 | g.227008050T>C | CA351140504 | COL4A4 | c.379A>G (p.Arg127Gly) c.4777A>G (p.Arg1593Gly) c.4222A>G (p.Arg1408Gly) c.4588A>G (p.Arg1530Gly) c.4216+13998A>G (n.4216+13998A>G) c.4696A>G (p.Arg1566Gly) c.4669A>G (p.Arg1557Gly) c.*110A>G (n.*110A>G) c.3103A>G (p.Arg1035Gly) n.5087A>G n.4526+13998A>G c.4660A>G (p.Arg1554Gly) n.5103A>G n.4849A>G n.4542+13998A>G | |
2 | g.227008050T>G | CA2144071 | COL4A4 | c.379A>C (p.Arg127=) c.4777A>C (p.Arg1593=) c.4222A>C (p.Arg1408=) c.4588A>C (p.Arg1530=) c.4216+13998A>C (n.4216+13998A>C) c.4696A>C (p.Arg1566=) c.4669A>C (p.Arg1557=) c.*110A>C (n.*110A>C) c.3103A>C (p.Arg1035=) n.5087A>C n.4526+13998A>C c.4660A>C (p.Arg1554=) n.5103A>C n.4849A>C n.4542+13998A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008050T= | CA1332723877 | COL4A4 | c.379A= (p.Arg127=) c.4777A= (p.Arg1593=) c.4222A= (p.Arg1408=) c.4588A= (p.Arg1530=) c.4216+13998A= (n.4216+13998A=) c.4696A= (p.Arg1566=) c.4669A= (p.Arg1557=) c.*110A= (n.*110A=) c.3103A= (p.Arg1035=) n.5087A= n.4526+13998A= c.4660A= (p.Arg1554=) n.5103A= n.4849A= n.4542+13998A= | |
2 | g.227008051C>A | CA351140505 | COL4A4 | c.378G>T (p.Trp126Cys) c.4776G>T (p.Trp1592Cys) c.4221G>T (p.Trp1407Cys) c.4587G>T (p.Trp1529Cys) c.4216+13997G>T (n.4216+13997G>T) c.4695G>T (p.Trp1565Cys) c.4668G>T (p.Trp1556Cys) c.*109G>T (n.*109G>T) c.3102G>T (p.Trp1034Cys) n.5086G>T n.4526+13997G>T c.4659G>T (p.Trp1553Cys) n.5102G>T n.4848G>T n.4542+13997G>T | |
2 | g.227008051C>G | CA351140506 | COL4A4 | c.378G>C (p.Trp126Cys) c.4776G>C (p.Trp1592Cys) c.4221G>C (p.Trp1407Cys) c.4587G>C (p.Trp1529Cys) c.4216+13997G>C (n.4216+13997G>C) c.4695G>C (p.Trp1565Cys) c.4668G>C (p.Trp1556Cys) c.*109G>C (n.*109G>C) c.3102G>C (p.Trp1034Cys) n.5086G>C n.4526+13997G>C c.4659G>C (p.Trp1553Cys) n.5102G>C n.4848G>C n.4542+13997G>C | |
2 | g.227008051C>T | CA351140507 | COL4A4 | c.378G>A (p.Trp126Ter) c.4776G>A (p.Trp1592Ter) c.4221G>A (p.Trp1407Ter) c.4587G>A (p.Trp1529Ter) c.4216+13997G>A (n.4216+13997G>A) c.4695G>A (p.Trp1565Ter) c.4668G>A (p.Trp1556Ter) c.*109G>A (n.*109G>A) c.3102G>A (p.Trp1034Ter) n.5086G>A n.4526+13997G>A c.4659G>A (p.Trp1553Ter) n.5102G>A n.4848G>A n.4542+13997G>A | ClinVar |
2 | g.227008052C>A | CA351140508 | COL4A4 | c.377G>T (p.Trp126Leu) c.4775G>T (p.Trp1592Leu) c.4220G>T (p.Trp1407Leu) c.4586G>T (p.Trp1529Leu) c.4216+13996G>T (n.4216+13996G>T) c.4694G>T (p.Trp1565Leu) c.4667G>T (p.Trp1556Leu) c.*108G>T (n.*108G>T) c.3101G>T (p.Trp1034Leu) n.5085G>T n.4526+13996G>T c.4658G>T (p.Trp1553Leu) n.5101G>T n.4847G>T n.4542+13996G>T | |
2 | g.227008052C>G | CA351140509 | COL4A4 | c.377G>C (p.Trp126Ser) c.4775G>C (p.Trp1592Ser) c.4220G>C (p.Trp1407Ser) c.4586G>C (p.Trp1529Ser) c.4216+13996G>C (n.4216+13996G>C) c.4694G>C (p.Trp1565Ser) c.4667G>C (p.Trp1556Ser) c.*108G>C (n.*108G>C) c.3101G>C (p.Trp1034Ser) n.5085G>C n.4526+13996G>C c.4658G>C (p.Trp1553Ser) n.5101G>C n.4847G>C n.4542+13996G>C | |
2 | g.227008052C>T | CA351140510 | COL4A4 | c.377G>A (p.Trp126Ter) c.4775G>A (p.Trp1592Ter) c.4220G>A (p.Trp1407Ter) c.4586G>A (p.Trp1529Ter) c.4216+13996G>A (n.4216+13996G>A) c.4694G>A (p.Trp1565Ter) c.4667G>A (p.Trp1556Ter) c.*108G>A (n.*108G>A) c.3101G>A (p.Trp1034Ter) n.5085G>A n.4526+13996G>A c.4658G>A (p.Trp1553Ter) n.5101G>A n.4847G>A n.4542+13996G>A | |
2 | g.227008053A= | CA1332723878 | COL4A4 | c.376T= (p.Trp126=) c.4774T= (p.Trp1592=) c.4219T= (p.Trp1407=) c.4585T= (p.Trp1529=) c.4216+13995T= (n.4216+13995T=) c.4693T= (p.Trp1565=) c.4666T= (p.Trp1556=) c.*107T= (n.*107T=) c.3100T= (p.Trp1034=) n.5084T= n.4526+13995T= c.4657T= (p.Trp1553=) n.5100T= n.4846T= n.4542+13995T= | |
2 | g.227008053A>C | CA351140512 | COL4A4 | c.376T>G (p.Trp126Gly) c.4774T>G (p.Trp1592Gly) c.4219T>G (p.Trp1407Gly) c.4585T>G (p.Trp1529Gly) c.4216+13995T>G (n.4216+13995T>G) c.4693T>G (p.Trp1565Gly) c.4666T>G (p.Trp1556Gly) c.*107T>G (n.*107T>G) c.3100T>G (p.Trp1034Gly) n.5084T>G n.4526+13995T>G c.4657T>G (p.Trp1553Gly) n.5100T>G n.4846T>G n.4542+13995T>G | |
2 | g.227008053A>G | CA2144072 | COL4A4 | c.376T>C (p.Trp126Arg) c.4774T>C (p.Trp1592Arg) c.4219T>C (p.Trp1407Arg) c.4585T>C (p.Trp1529Arg) c.4216+13995T>C (n.4216+13995T>C) c.4693T>C (p.Trp1565Arg) c.4666T>C (p.Trp1556Arg) c.*107T>C (n.*107T>C) c.3100T>C (p.Trp1034Arg) n.5084T>C n.4526+13995T>C c.4657T>C (p.Trp1553Arg) n.5100T>C n.4846T>C n.4542+13995T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008053A>T | CA351140511 | COL4A4 | c.376T>A (p.Trp126Arg) c.4774T>A (p.Trp1592Arg) c.4219T>A (p.Trp1407Arg) c.4585T>A (p.Trp1529Arg) c.4216+13995T>A (n.4216+13995T>A) c.4693T>A (p.Trp1565Arg) c.4666T>A (p.Trp1556Arg) c.*107T>A (n.*107T>A) c.3100T>A (p.Trp1034Arg) n.5084T>A n.4526+13995T>A c.4657T>A (p.Trp1553Arg) n.5100T>A n.4846T>A n.4542+13995T>A | |
2 | g.227008054G>A | CA431672069 | COL4A4 | c.375C>T (p.Thr125=) c.4773C>T (p.Thr1591=) c.4218C>T (p.Thr1406=) c.4584C>T (p.Thr1528=) c.4216+13994C>T (n.4216+13994C>T) c.4692C>T (p.Thr1564=) c.4665C>T (p.Thr1555=) c.*106C>T (n.*106C>T) c.3099C>T (p.Thr1033=) n.5083C>T n.4526+13994C>T c.4656C>T (p.Thr1552=) n.5099C>T n.4845C>T n.4542+13994C>T | |
2 | g.227008054G>C | CA431672071 | COL4A4 | c.375C>G (p.Thr125=) c.4773C>G (p.Thr1591=) c.4218C>G (p.Thr1406=) c.4584C>G (p.Thr1528=) c.4216+13994C>G (n.4216+13994C>G) c.4692C>G (p.Thr1564=) c.4665C>G (p.Thr1555=) c.*106C>G (n.*106C>G) c.3099C>G (p.Thr1033=) n.5083C>G n.4526+13994C>G c.4656C>G (p.Thr1552=) n.5099C>G n.4845C>G n.4542+13994C>G | |
2 | g.227008054G>T | CA431672073 | COL4A4 | c.375C>A (p.Thr125=) c.4773C>A (p.Thr1591=) c.4218C>A (p.Thr1406=) c.4584C>A (p.Thr1528=) c.4216+13994C>A (n.4216+13994C>A) c.4692C>A (p.Thr1564=) c.4665C>A (p.Thr1555=) c.*106C>A (n.*106C>A) c.3099C>A (p.Thr1033=) n.5083C>A n.4526+13994C>A c.4656C>A (p.Thr1552=) n.5099C>A n.4845C>A n.4542+13994C>A | |
2 | g.227008055G>A | CA351140513 | COL4A4 | c.374C>T (p.Thr125Ile) c.4772C>T (p.Thr1591Ile) c.4217C>T (p.Thr1406Ile) c.4583C>T (p.Thr1528Ile) c.4216+13993C>T (n.4216+13993C>T) c.4691C>T (p.Thr1564Ile) c.4664C>T (p.Thr1555Ile) c.*105C>T (n.*105C>T) c.3098C>T (p.Thr1033Ile) n.5082C>T n.4526+13993C>T c.4655C>T (p.Thr1552Ile) n.5098C>T n.4844C>T n.4542+13993C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008055G>C | CA351140514 | COL4A4 | c.374C>G (p.Thr125Ser) c.4772C>G (p.Thr1591Ser) c.4217C>G (p.Thr1406Ser) c.4583C>G (p.Thr1528Ser) c.4216+13993C>G (n.4216+13993C>G) c.4691C>G (p.Thr1564Ser) c.4664C>G (p.Thr1555Ser) c.*105C>G (n.*105C>G) c.3098C>G (p.Thr1033Ser) n.5082C>G n.4526+13993C>G c.4655C>G (p.Thr1552Ser) n.5098C>G n.4844C>G n.4542+13993C>G | |
2 | g.227008055G= | CA1332723879 | COL4A4 | c.374C= (p.Thr125=) c.4772C= (p.Thr1591=) c.4217C= (p.Thr1406=) c.4583C= (p.Thr1528=) c.4216+13993C= (n.4216+13993C=) c.4691C= (p.Thr1564=) c.4664C= (p.Thr1555=) c.*105C= (n.*105C=) c.3098C= (p.Thr1033=) n.5082C= n.4526+13993C= c.4655C= (p.Thr1552=) n.5098C= n.4844C= n.4542+13993C= | |
2 | g.227008055G>T | CA351140515 | COL4A4 | c.374C>A (p.Thr125Asn) c.4772C>A (p.Thr1591Asn) c.4217C>A (p.Thr1406Asn) c.4583C>A (p.Thr1528Asn) c.4216+13993C>A (n.4216+13993C>A) c.4691C>A (p.Thr1564Asn) c.4664C>A (p.Thr1555Asn) c.*105C>A (n.*105C>A) c.3098C>A (p.Thr1033Asn) n.5082C>A n.4526+13993C>A c.4655C>A (p.Thr1552Asn) n.5098C>A n.4844C>A n.4542+13993C>A | |
2 | g.227008056T>A | CA351140516 | COL4A4 | c.373A>T (p.Thr125Ser) c.4771A>T (p.Thr1591Ser) c.4216A>T (p.Thr1406Ser) c.4582A>T (p.Thr1528Ser) c.4216+13992A>T (n.4216+13992A>T) c.4690A>T (p.Thr1564Ser) c.4663A>T (p.Thr1555Ser) c.*104A>T (n.*104A>T) c.3097A>T (p.Thr1033Ser) n.5081A>T n.4526+13992A>T c.4654A>T (p.Thr1552Ser) n.5097A>T n.4843A>T n.4542+13992A>T | |
2 | g.227008056T>C | CA351140517 | COL4A4 | c.373A>G (p.Thr125Ala) c.4771A>G (p.Thr1591Ala) c.4216A>G (p.Thr1406Ala) c.4582A>G (p.Thr1528Ala) c.4216+13992A>G (n.4216+13992A>G) c.4690A>G (p.Thr1564Ala) c.4663A>G (p.Thr1555Ala) c.*104A>G (n.*104A>G) c.3097A>G (p.Thr1033Ala) n.5081A>G n.4526+13992A>G c.4654A>G (p.Thr1552Ala) n.5097A>G n.4843A>G n.4542+13992A>G | |
2 | g.227008056T>G | CA351140518 | COL4A4 | c.373A>C (p.Thr125Pro) c.4771A>C (p.Thr1591Pro) c.4216A>C (p.Thr1406Pro) c.4582A>C (p.Thr1528Pro) c.4216+13992A>C (n.4216+13992A>C) c.4690A>C (p.Thr1564Pro) c.4663A>C (p.Thr1555Pro) c.*104A>C (n.*104A>C) c.3097A>C (p.Thr1033Pro) n.5081A>C n.4526+13992A>C c.4654A>C (p.Thr1552Pro) n.5097A>C n.4843A>C n.4542+13992A>C | |
2 | g.227008057C>A | CA351140519 | COL4A4 | c.372G>T (p.Gln124His) c.4770G>T (p.Gln1590His) c.4215G>T (p.Gln1405His) c.4581G>T (p.Gln1527His) c.4216+13991G>T (n.4216+13991G>T) c.4689G>T (p.Gln1563His) c.4662G>T (p.Gln1554His) c.*103G>T (n.*103G>T) c.3096G>T (p.Gln1032His) n.5080G>T n.4526+13991G>T c.4653G>T (p.Gln1551His) n.5096G>T n.4842G>T n.4542+13991G>T | |
2 | g.227008057C>G | CA351140520 | COL4A4 | c.372G>C (p.Gln124His) c.4770G>C (p.Gln1590His) c.4215G>C (p.Gln1405His) c.4581G>C (p.Gln1527His) c.4216+13991G>C (n.4216+13991G>C) c.4689G>C (p.Gln1563His) c.4662G>C (p.Gln1554His) c.*103G>C (n.*103G>C) c.3096G>C (p.Gln1032His) n.5080G>C n.4526+13991G>C c.4653G>C (p.Gln1551His) n.5096G>C n.4842G>C n.4542+13991G>C | |
2 | g.227008057C>T | CA431672074 | COL4A4 | c.372G>A (p.Gln124=) c.4770G>A (p.Gln1590=) c.4215G>A (p.Gln1405=) c.4581G>A (p.Gln1527=) c.4216+13991G>A (n.4216+13991G>A) c.4689G>A (p.Gln1563=) c.4662G>A (p.Gln1554=) c.*103G>A (n.*103G>A) c.3096G>A (p.Gln1032=) n.5080G>A n.4526+13991G>A c.4653G>A (p.Gln1551=) n.5096G>A n.4842G>A n.4542+13991G>A | |
2 | g.227008058T>A | CA351140521 | COL4A4 | c.371A>T (p.Gln124Leu) c.4769A>T (p.Gln1590Leu) c.4214A>T (p.Gln1405Leu) c.4580A>T (p.Gln1527Leu) c.4216+13990A>T (n.4216+13990A>T) c.4688A>T (p.Gln1563Leu) c.4661A>T (p.Gln1554Leu) c.*102A>T (n.*102A>T) c.3095A>T (p.Gln1032Leu) n.5079A>T n.4526+13990A>T c.4652A>T (p.Gln1551Leu) n.5095A>T n.4841A>T n.4542+13990A>T | gnomAD v4 |
2 | g.227008058T>C | CA351140522 | COL4A4 | c.371A>G (p.Gln124Arg) c.4769A>G (p.Gln1590Arg) c.4214A>G (p.Gln1405Arg) c.4580A>G (p.Gln1527Arg) c.4216+13990A>G (n.4216+13990A>G) c.4688A>G (p.Gln1563Arg) c.4661A>G (p.Gln1554Arg) c.*102A>G (n.*102A>G) c.3095A>G (p.Gln1032Arg) n.5079A>G n.4526+13990A>G c.4652A>G (p.Gln1551Arg) n.5095A>G n.4841A>G n.4542+13990A>G | |
2 | g.227008058T>G | CA351140523 | COL4A4 | c.371A>C (p.Gln124Pro) c.4769A>C (p.Gln1590Pro) c.4214A>C (p.Gln1405Pro) c.4580A>C (p.Gln1527Pro) c.4216+13990A>C (n.4216+13990A>C) c.4688A>C (p.Gln1563Pro) c.4661A>C (p.Gln1554Pro) c.*102A>C (n.*102A>C) c.3095A>C (p.Gln1032Pro) n.5079A>C n.4526+13990A>C c.4652A>C (p.Gln1551Pro) n.5095A>C n.4841A>C n.4542+13990A>C | |
2 | g.227008059G>A | CA351140524 | COL4A4 | c.370C>T (p.Gln124Ter) c.4768C>T (p.Gln1590Ter) c.4213C>T (p.Gln1405Ter) c.4579C>T (p.Gln1527Ter) c.4216+13989C>T (n.4216+13989C>T) c.4687C>T (p.Gln1563Ter) c.4660C>T (p.Gln1554Ter) c.*101C>T (n.*101C>T) c.3094C>T (p.Gln1032Ter) n.5078C>T n.4526+13989C>T c.4651C>T (p.Gln1551Ter) n.5094C>T n.4840C>T n.4542+13989C>T | ClinVar dbSNP |
2 | g.227008059G>C | CA351140525 | COL4A4 | c.370C>G (p.Gln124Glu) c.4768C>G (p.Gln1590Glu) c.4213C>G (p.Gln1405Glu) c.4579C>G (p.Gln1527Glu) c.4216+13989C>G (n.4216+13989C>G) c.4687C>G (p.Gln1563Glu) c.4660C>G (p.Gln1554Glu) c.*101C>G (n.*101C>G) c.3094C>G (p.Gln1032Glu) n.5078C>G n.4526+13989C>G c.4651C>G (p.Gln1551Glu) n.5094C>G n.4840C>G n.4542+13989C>G | |
2 | g.227008059G= | CA1332723880 | COL4A4 | c.370C= (p.Gln124=) c.4768C= (p.Gln1590=) c.4213C= (p.Gln1405=) c.4579C= (p.Gln1527=) c.4216+13989C= (n.4216+13989C=) c.4687C= (p.Gln1563=) c.4660C= (p.Gln1554=) c.*101C= (n.*101C=) c.3094C= (p.Gln1032=) n.5078C= n.4526+13989C= c.4651C= (p.Gln1551=) n.5094C= n.4840C= n.4542+13989C= | |
2 | g.227008059G>T | CA351140526 | COL4A4 | c.370C>A (p.Gln124Lys) c.4768C>A (p.Gln1590Lys) c.4213C>A (p.Gln1405Lys) c.4579C>A (p.Gln1527Lys) c.4216+13989C>A (n.4216+13989C>A) c.4687C>A (p.Gln1563Lys) c.4660C>A (p.Gln1554Lys) c.*101C>A (n.*101C>A) c.3094C>A (p.Gln1032Lys) n.5078C>A n.4526+13989C>A c.4651C>A (p.Gln1551Lys) n.5094C>A n.4840C>A n.4542+13989C>A | |
2 | g.227008060C>A | CA431672076 | COL4A4 | c.369G>T (p.Pro123=) c.4767G>T (p.Pro1589=) c.4212G>T (p.Pro1404=) c.4578G>T (p.Pro1526=) c.4216+13988G>T (n.4216+13988G>T) c.4686G>T (p.Pro1562=) c.4659G>T (p.Pro1553=) c.*100G>T (n.*100G>T) c.3093G>T (p.Pro1031=) n.5077G>T n.4526+13988G>T c.4650G>T (p.Pro1550=) n.5093G>T n.4839G>T n.4542+13988G>T | |
2 | g.227008060C= | CA1332723881 | COL4A4 | c.369G= (p.Pro123=) c.4767G= (p.Pro1589=) c.4212G= (p.Pro1404=) c.4578G= (p.Pro1526=) c.4216+13988G= (n.4216+13988G=) c.4686G= (p.Pro1562=) c.4659G= (p.Pro1553=) c.*100G= (n.*100G=) c.3093G= (p.Pro1031=) n.5077G= n.4526+13988G= c.4650G= (p.Pro1550=) n.5093G= n.4839G= n.4542+13988G= | |
2 | g.227008060C>G | CA431672077 | COL4A4 | c.369G>C (p.Pro123=) c.4767G>C (p.Pro1589=) c.4212G>C (p.Pro1404=) c.4578G>C (p.Pro1526=) c.4216+13988G>C (n.4216+13988G>C) c.4686G>C (p.Pro1562=) c.4659G>C (p.Pro1553=) c.*100G>C (n.*100G>C) c.3093G>C (p.Pro1031=) n.5077G>C n.4526+13988G>C c.4650G>C (p.Pro1550=) n.5093G>C n.4839G>C n.4542+13988G>C | |
2 | g.227008060C>T | CA2144073 | COL4A4 | c.369G>A (p.Pro123=) c.4767G>A (p.Pro1589=) c.4212G>A (p.Pro1404=) c.4578G>A (p.Pro1526=) c.4216+13988G>A (n.4216+13988G>A) c.4686G>A (p.Pro1562=) c.4659G>A (p.Pro1553=) c.*100G>A (n.*100G>A) c.3093G>A (p.Pro1031=) n.5077G>A n.4526+13988G>A c.4650G>A (p.Pro1550=) n.5093G>A n.4839G>A n.4542+13988G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008061G>A | CA2144074 | COL4A4 | c.368C>T (p.Pro123Leu) c.4766C>T (p.Pro1589Leu) c.4211C>T (p.Pro1404Leu) c.4577C>T (p.Pro1526Leu) c.4216+13987C>T (n.4216+13987C>T) c.4685C>T (p.Pro1562Leu) c.4658C>T (p.Pro1553Leu) c.*99C>T (n.*99C>T) c.3092C>T (p.Pro1031Leu) n.5076C>T n.4526+13987C>T c.4649C>T (p.Pro1550Leu) n.5092C>T n.4838C>T n.4542+13987C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227008061G>C | CA351140527 | COL4A4 | c.368C>G (p.Pro123Arg) c.4766C>G (p.Pro1589Arg) c.4211C>G (p.Pro1404Arg) c.4577C>G (p.Pro1526Arg) c.4216+13987C>G (n.4216+13987C>G) c.4685C>G (p.Pro1562Arg) c.4658C>G (p.Pro1553Arg) c.*99C>G (n.*99C>G) c.3092C>G (p.Pro1031Arg) n.5076C>G n.4526+13987C>G c.4649C>G (p.Pro1550Arg) n.5092C>G n.4838C>G n.4542+13987C>G | |
2 | g.227008061G= | CA1332723882 | COL4A4 | c.368C= (p.Pro123=) c.4766C= (p.Pro1589=) c.4211C= (p.Pro1404=) c.4577C= (p.Pro1526=) c.4216+13987C= (n.4216+13987C=) c.4685C= (p.Pro1562=) c.4658C= (p.Pro1553=) c.*99C= (n.*99C=) c.3092C= (p.Pro1031=) n.5076C= n.4526+13987C= c.4649C= (p.Pro1550=) n.5092C= n.4838C= n.4542+13987C= | |
2 | g.227008061G>T | CA351140528 | COL4A4 | c.368C>A (p.Pro123Gln) c.4766C>A (p.Pro1589Gln) c.4211C>A (p.Pro1404Gln) c.4577C>A (p.Pro1526Gln) c.4216+13987C>A (n.4216+13987C>A) c.4685C>A (p.Pro1562Gln) c.4658C>A (p.Pro1553Gln) c.*99C>A (n.*99C>A) c.3092C>A (p.Pro1031Gln) n.5076C>A n.4526+13987C>A c.4649C>A (p.Pro1550Gln) n.5092C>A n.4838C>A n.4542+13987C>A | |
2 | g.227008062G>A | CA351140529 | COL4A4 | c.367C>T (p.Pro123Ser) c.4765C>T (p.Pro1589Ser) c.4210C>T (p.Pro1404Ser) c.4576C>T (p.Pro1526Ser) c.4216+13986C>T (n.4216+13986C>T) c.4684C>T (p.Pro1562Ser) c.4657C>T (p.Pro1553Ser) c.*98C>T (n.*98C>T) c.3091C>T (p.Pro1031Ser) n.5075C>T n.4526+13986C>T c.4648C>T (p.Pro1550Ser) n.5091C>T n.4837C>T n.4542+13986C>T | gnomAD v4 |
2 | g.227008062G>C | CA351140530 | COL4A4 | c.367C>G (p.Pro123Ala) c.4765C>G (p.Pro1589Ala) c.4210C>G (p.Pro1404Ala) c.4576C>G (p.Pro1526Ala) c.4216+13986C>G (n.4216+13986C>G) c.4684C>G (p.Pro1562Ala) c.4657C>G (p.Pro1553Ala) c.*98C>G (n.*98C>G) c.3091C>G (p.Pro1031Ala) n.5075C>G n.4526+13986C>G c.4648C>G (p.Pro1550Ala) n.5091C>G n.4837C>G n.4542+13986C>G | |
2 | g.227008062G>T | CA351140531 | COL4A4 | c.367C>A (p.Pro123Thr) c.4765C>A (p.Pro1589Thr) c.4210C>A (p.Pro1404Thr) c.4576C>A (p.Pro1526Thr) c.4216+13986C>A (n.4216+13986C>A) c.4684C>A (p.Pro1562Thr) c.4657C>A (p.Pro1553Thr) c.*98C>A (n.*98C>A) c.3091C>A (p.Pro1031Thr) n.5075C>A n.4526+13986C>A c.4648C>A (p.Pro1550Thr) n.5091C>A n.4837C>A n.4542+13986C>A | |
2 | g.227008063A= | CA1332723883 | COL4A4 | c.366T= (p.Cys122=) c.4764T= (p.Cys1588=) c.4209T= (p.Cys1403=) c.4575T= (p.Cys1525=) c.4216+13985T= (n.4216+13985T=) c.4683T= (p.Cys1561=) c.4656T= (p.Cys1552=) c.*97T= (n.*97T=) c.3090T= (p.Cys1030=) n.5074T= n.4526+13985T= c.4647T= (p.Cys1549=) n.5090T= n.4836T= n.4542+13985T= | |
2 | g.227008063A>C | CA351140532 | COL4A4 | c.366T>G (p.Cys122Trp) c.4764T>G (p.Cys1588Trp) c.4209T>G (p.Cys1403Trp) c.4575T>G (p.Cys1525Trp) c.4216+13985T>G (n.4216+13985T>G) c.4683T>G (p.Cys1561Trp) c.4656T>G (p.Cys1552Trp) c.*97T>G (n.*97T>G) c.3090T>G (p.Cys1030Trp) n.5074T>G n.4526+13985T>G c.4647T>G (p.Cys1549Trp) n.5090T>G n.4836T>G n.4542+13985T>G | ClinVar |
2 | g.227008063A>G | CA431672078 | COL4A4 | c.366T>C (p.Cys122=) c.4764T>C (p.Cys1588=) c.4209T>C (p.Cys1403=) c.4575T>C (p.Cys1525=) c.4216+13985T>C (n.4216+13985T>C) c.4683T>C (p.Cys1561=) c.4656T>C (p.Cys1552=) c.*97T>C (n.*97T>C) c.3090T>C (p.Cys1030=) n.5074T>C n.4526+13985T>C c.4647T>C (p.Cys1549=) n.5090T>C n.4836T>C n.4542+13985T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008063A>T | CA351140533 | COL4A4 | c.366T>A (p.Cys122Ter) c.4764T>A (p.Cys1588Ter) c.4209T>A (p.Cys1403Ter) c.4575T>A (p.Cys1525Ter) c.4216+13985T>A (n.4216+13985T>A) c.4683T>A (p.Cys1561Ter) c.4656T>A (p.Cys1552Ter) c.*97T>A (n.*97T>A) c.3090T>A (p.Cys1030Ter) n.5074T>A n.4526+13985T>A c.4647T>A (p.Cys1549Ter) n.5090T>A n.4836T>A n.4542+13985T>A | |
2 | g.227008064C>A | CA351140534 | COL4A4 | c.365G>T (p.Cys122Phe) c.4763G>T (p.Cys1588Phe) c.4208G>T (p.Cys1403Phe) c.4574G>T (p.Cys1525Phe) c.4216+13984G>T (n.4216+13984G>T) c.4682G>T (p.Cys1561Phe) c.4655G>T (p.Cys1552Phe) c.*96G>T (n.*96G>T) c.3089G>T (p.Cys1030Phe) n.5073G>T n.4526+13984G>T c.4646G>T (p.Cys1549Phe) n.5089G>T n.4835G>T n.4542+13984G>T | |
2 | g.227008064C>G | CA351140535 | COL4A4 | c.365G>C (p.Cys122Ser) c.4763G>C (p.Cys1588Ser) c.4208G>C (p.Cys1403Ser) c.4574G>C (p.Cys1525Ser) c.4216+13984G>C (n.4216+13984G>C) c.4682G>C (p.Cys1561Ser) c.4655G>C (p.Cys1552Ser) c.*96G>C (n.*96G>C) c.3089G>C (p.Cys1030Ser) n.5073G>C n.4526+13984G>C c.4646G>C (p.Cys1549Ser) n.5089G>C n.4835G>C n.4542+13984G>C | |
2 | g.227008064C>T | CA351140536 | COL4A4 | c.365G>A (p.Cys122Tyr) c.4763G>A (p.Cys1588Tyr) c.4208G>A (p.Cys1403Tyr) c.4574G>A (p.Cys1525Tyr) c.4216+13984G>A (n.4216+13984G>A) c.4682G>A (p.Cys1561Tyr) c.4655G>A (p.Cys1552Tyr) c.*96G>A (n.*96G>A) c.3089G>A (p.Cys1030Tyr) n.5073G>A n.4526+13984G>A c.4646G>A (p.Cys1549Tyr) n.5089G>A n.4835G>A n.4542+13984G>A | ClinVar |
2 | g.227008065A>C | CA351140537 | COL4A4 | c.364T>G (p.Cys122Gly) c.4762T>G (p.Cys1588Gly) c.4207T>G (p.Cys1403Gly) c.4573T>G (p.Cys1525Gly) c.4216+13983T>G (n.4216+13983T>G) c.4681T>G (p.Cys1561Gly) c.4654T>G (p.Cys1552Gly) c.*95T>G (n.*95T>G) c.3088T>G (p.Cys1030Gly) n.5072T>G n.4526+13983T>G c.4645T>G (p.Cys1549Gly) n.5088T>G n.4834T>G n.4542+13983T>G | |
2 | g.227008065A>G | CA351140538 | COL4A4 | c.364T>C (p.Cys122Arg) c.4762T>C (p.Cys1588Arg) c.4207T>C (p.Cys1403Arg) c.4573T>C (p.Cys1525Arg) c.4216+13983T>C (n.4216+13983T>C) c.4681T>C (p.Cys1561Arg) c.4654T>C (p.Cys1552Arg) c.*95T>C (n.*95T>C) c.3088T>C (p.Cys1030Arg) n.5072T>C n.4526+13983T>C c.4645T>C (p.Cys1549Arg) n.5088T>C n.4834T>C n.4542+13983T>C | ClinVar |
2 | g.227008065A>T | CA351140539 | COL4A4 | c.364T>A (p.Cys122Ser) c.4762T>A (p.Cys1588Ser) c.4207T>A (p.Cys1403Ser) c.4573T>A (p.Cys1525Ser) c.4216+13983T>A (n.4216+13983T>A) c.4681T>A (p.Cys1561Ser) c.4654T>A (p.Cys1552Ser) c.*95T>A (n.*95T>A) c.3088T>A (p.Cys1030Ser) n.5072T>A n.4526+13983T>A c.4645T>A (p.Cys1549Ser) n.5088T>A n.4834T>A n.4542+13983T>A | ClinVar |
2 | g.227008066T>A | CA431672081 | COL4A4 | c.363A>T (p.Pro121=) c.4761A>T (p.Pro1587=) c.4206A>T (p.Pro1402=) c.4572A>T (p.Pro1524=) c.4216+13982A>T (n.4216+13982A>T) c.4680A>T (p.Pro1560=) c.4653A>T (p.Pro1551=) c.*94A>T (n.*94A>T) c.3087A>T (p.Pro1029=) n.5071A>T n.4526+13982A>T c.4644A>T (p.Pro1548=) n.5087A>T n.4833A>T n.4542+13982A>T | |
2 | g.227008066T>C | CA431672080 | COL4A4 | c.363A>G (p.Pro121=) c.4761A>G (p.Pro1587=) c.4206A>G (p.Pro1402=) c.4572A>G (p.Pro1524=) c.4216+13982A>G (n.4216+13982A>G) c.4680A>G (p.Pro1560=) c.4653A>G (p.Pro1551=) c.*94A>G (n.*94A>G) c.3087A>G (p.Pro1029=) n.5071A>G n.4526+13982A>G c.4644A>G (p.Pro1548=) n.5087A>G n.4833A>G n.4542+13982A>G | dbSNP gnomAD v4 COSMIC |
2 | g.227008066T>G | CA431672079 | COL4A4 | c.363A>C (p.Pro121=) c.4761A>C (p.Pro1587=) c.4206A>C (p.Pro1402=) c.4572A>C (p.Pro1524=) c.4216+13982A>C (n.4216+13982A>C) c.4680A>C (p.Pro1560=) c.4653A>C (p.Pro1551=) c.*94A>C (n.*94A>C) c.3087A>C (p.Pro1029=) n.5071A>C n.4526+13982A>C c.4644A>C (p.Pro1548=) n.5087A>C n.4833A>C n.4542+13982A>C | |
2 | g.227008066T= | CA1332723885 | COL4A4 | c.363A= (p.Pro121=) c.4761A= (p.Pro1587=) c.4206A= (p.Pro1402=) c.4572A= (p.Pro1524=) c.4216+13982A= (n.4216+13982A=) c.4680A= (p.Pro1560=) c.4653A= (p.Pro1551=) c.*94A= (n.*94A=) c.3087A= (p.Pro1029=) n.5071A= n.4526+13982A= c.4644A= (p.Pro1548=) n.5087A= n.4833A= n.4542+13982A= | |
2 | g.227008066_227008067del | CA913089934 | COL4A4 | c.362_363del (p.Pro121LeufsTer?) c.4760_4761del (p.Pro1587LeufsTer?) c.4205_4206del (p.Pro1402LeufsTer?) c.4571_4572del (p.Pro1524LeufsTer?) c.4216+13981_4216+13982del (n.4216+13981_4216+13982del) c.4679_4680del (p.Pro1560LeufsTer?) c.4652_4653del (p.Pro1551LeufsTer?) c.4760_4761del (p.Pro1587LeufsTer26) c.*93_*94del (n.*93_*94del) c.3086_3087del (p.Pro1029LeufsTer?) n.5070_5071del n.4526+13981_4526+13982del c.4643_4644del (p.Pro1548LeufsTer?) n.5086_5087del n.4832_4833del n.4542+13981_4542+13982del | |
2 | g.227008066_227008069delinsTGGG | CA1332723884 | COL4A4 | c.360_363delinsCCCA (p.Pro120=) c.4758_4761delinsCCCA (p.Pro1586=) c.4203_4206delinsCCCA (p.Pro1401=) c.4569_4572delinsCCCA (p.Pro1523=) c.4216+13979_4216+13982delinsCCCA (n.4216+13979_4216+13982delinsCCCA) c.4677_4680delinsCCCA (p.Pro1559=) c.4650_4653delinsCCCA (p.Pro1550=) c.*91_*94delinsCCCA (n.*91_*94delinsCCCA) c.3084_3087delinsCCCA (p.Pro1028=) n.5068_5071delinsCCCA n.4526+13979_4526+13982delinsCCCA c.4641_4644delinsCCCA (p.Pro1547=) n.5084_5087delinsCCCA n.4830_4833delinsCCCA n.4542+13979_4542+13982delinsCCCA | |
2 | g.227008067G>A | CA2144076 | COL4A4 | c.362C>T (p.Pro121Leu) c.4760C>T (p.Pro1587Leu) c.4205C>T (p.Pro1402Leu) c.4571C>T (p.Pro1524Leu) c.4216+13981C>T (n.4216+13981C>T) c.4679C>T (p.Pro1560Leu) c.4652C>T (p.Pro1551Leu) c.*93C>T (n.*93C>T) c.3086C>T (p.Pro1029Leu) n.5070C>T n.4526+13981C>T c.4643C>T (p.Pro1548Leu) n.5086C>T n.4832C>T n.4542+13981C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008067G>C | CA2144075 | COL4A4 | c.362C>G (p.Pro121Arg) c.4760C>G (p.Pro1587Arg) c.4205C>G (p.Pro1402Arg) c.4571C>G (p.Pro1524Arg) c.4216+13981C>G (n.4216+13981C>G) c.4679C>G (p.Pro1560Arg) c.4652C>G (p.Pro1551Arg) c.*93C>G (n.*93C>G) c.3086C>G (p.Pro1029Arg) n.5070C>G n.4526+13981C>G c.4643C>G (p.Pro1548Arg) n.5086C>G n.4832C>G n.4542+13981C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227008067G= | CA1332723886 | COL4A4 | c.362C= (p.Pro121=) c.4760C= (p.Pro1587=) c.4205C= (p.Pro1402=) c.4571C= (p.Pro1524=) c.4216+13981C= (n.4216+13981C=) c.4679C= (p.Pro1560=) c.4652C= (p.Pro1551=) c.*93C= (n.*93C=) c.3086C= (p.Pro1029=) n.5070C= n.4526+13981C= c.4643C= (p.Pro1548=) n.5086C= n.4832C= n.4542+13981C= | |
2 | g.227008067G>T | CA2144077 | COL4A4 | c.362C>A (p.Pro121Gln) c.4760C>A (p.Pro1587Gln) c.4205C>A (p.Pro1402Gln) c.4571C>A (p.Pro1524Gln) c.4216+13981C>A (n.4216+13981C>A) c.4679C>A (p.Pro1560Gln) c.4652C>A (p.Pro1551Gln) c.*93C>A (n.*93C>A) c.3086C>A (p.Pro1029Gln) n.5070C>A n.4526+13981C>A c.4643C>A (p.Pro1548Gln) n.5086C>A n.4832C>A n.4542+13981C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008072dup | CA540312169 | COL4A4 | c.362dup (p.Cys122MetfsTer?) c.4760dup (p.Cys1588MetfsTer?) c.4205dup (p.Cys1403MetfsTer?) c.4571dup (p.Cys1525MetfsTer?) c.4216+13981dup (n.4216+13981dup) c.4679dup (p.Cys1561MetfsTer?) c.4652dup (p.Cys1552MetfsTer?) c.4760dup (p.Cys1588MetfsTer26) c.*93dup (n.*93dup) c.3086dup (p.Cys1030MetfsTer?) n.5070dup n.4526+13981dup c.4643dup (p.Cys1549MetfsTer?) n.5086dup n.4832dup n.4542+13981dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008072del | CA658821837 | COL4A4 | c.362del (p.Pro121HisfsTer16) c.4760del (p.Pro1587HisfsTer16) c.4205del (p.Pro1402HisfsTer16) c.4571del (p.Pro1524HisfsTer16) c.4216+13981del (n.4216+13981del) c.4679del (p.Pro1560HisfsTer16) c.4652del (p.Pro1551HisfsTer16) c.*93del (n.*93del) c.3086del (p.Pro1029HisfsTer16) n.5070del n.4526+13981del c.4643del (p.Pro1548HisfsTer16) n.5086del n.4832del n.4542+13981del | ClinVar dbSNP |
2 | g.227008070_227008072del | CA540312170 | COL4A4 | c.360_362del (p.Pro121del) c.4758_4760del (p.Pro1587del) c.4203_4205del (p.Pro1402del) c.4569_4571del (p.Pro1524del) c.4216+13979_4216+13981del (n.4216+13979_4216+13981del) c.4677_4679del (p.Pro1560del) c.4650_4652del (p.Pro1551del) c.*91_*93del (n.*91_*93del) c.3084_3086del (p.Pro1029del) n.5068_5070del n.4526+13979_4526+13981del c.4641_4643del (p.Pro1548del) n.5084_5086del n.4830_4832del n.4542+13979_4542+13981del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008068G>A | CA2144078 | COL4A4 | c.361C>T (p.Pro121Ser) c.4759C>T (p.Pro1587Ser) c.4204C>T (p.Pro1402Ser) c.4570C>T (p.Pro1524Ser) c.4216+13980C>T (n.4216+13980C>T) c.4678C>T (p.Pro1560Ser) c.4651C>T (p.Pro1551Ser) c.*92C>T (n.*92C>T) c.3085C>T (p.Pro1029Ser) n.5069C>T n.4526+13980C>T c.4642C>T (p.Pro1548Ser) n.5085C>T n.4831C>T n.4542+13980C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008068G>C | CA351140541 | COL4A4 | c.361C>G (p.Pro121Ala) c.4759C>G (p.Pro1587Ala) c.4204C>G (p.Pro1402Ala) c.4570C>G (p.Pro1524Ala) c.4216+13980C>G (n.4216+13980C>G) c.4678C>G (p.Pro1560Ala) c.4651C>G (p.Pro1551Ala) c.*92C>G (n.*92C>G) c.3085C>G (p.Pro1029Ala) n.5069C>G n.4526+13980C>G c.4642C>G (p.Pro1548Ala) n.5085C>G n.4831C>G n.4542+13980C>G | dbSNP gnomAD v2 |
2 | g.227008068G= | CA1332723887 | COL4A4 | c.361C= (p.Pro121=) c.4759C= (p.Pro1587=) c.4204C= (p.Pro1402=) c.4570C= (p.Pro1524=) c.4216+13980C= (n.4216+13980C=) c.4678C= (p.Pro1560=) c.4651C= (p.Pro1551=) c.*92C= (n.*92C=) c.3085C= (p.Pro1029=) n.5069C= n.4526+13980C= c.4642C= (p.Pro1548=) n.5085C= n.4831C= n.4542+13980C= | |
2 | g.227008068G>T | CA351140540 | COL4A4 | c.361C>A (p.Pro121Thr) c.4759C>A (p.Pro1587Thr) c.4204C>A (p.Pro1402Thr) c.4570C>A (p.Pro1524Thr) c.4216+13980C>A (n.4216+13980C>A) c.4678C>A (p.Pro1560Thr) c.4651C>A (p.Pro1551Thr) c.*92C>A (n.*92C>A) c.3085C>A (p.Pro1029Thr) n.5069C>A n.4526+13980C>A c.4642C>A (p.Pro1548Thr) n.5085C>A n.4831C>A n.4542+13980C>A | |
2 | g.227008069G>A | CA67238292 | COL4A4 | c.360C>T (p.Pro120=) c.4758C>T (p.Pro1586=) c.4203C>T (p.Pro1401=) c.4569C>T (p.Pro1523=) c.4216+13979C>T (n.4216+13979C>T) c.4677C>T (p.Pro1559=) c.4650C>T (p.Pro1550=) c.*91C>T (n.*91C>T) c.3084C>T (p.Pro1028=) n.5068C>T n.4526+13979C>T c.4641C>T (p.Pro1547=) n.5084C>T n.4830C>T n.4542+13979C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008069G>C | CA431672085 | COL4A4 | c.360C>G (p.Pro120=) c.4758C>G (p.Pro1586=) c.4203C>G (p.Pro1401=) c.4569C>G (p.Pro1523=) c.4216+13979C>G (n.4216+13979C>G) c.4677C>G (p.Pro1559=) c.4650C>G (p.Pro1550=) c.*91C>G (n.*91C>G) c.3084C>G (p.Pro1028=) n.5068C>G n.4526+13979C>G c.4641C>G (p.Pro1547=) n.5084C>G n.4830C>G n.4542+13979C>G | ClinVar dbSNP gnomAD v4 |
2 | g.227008069G= | CA1332723888 | COL4A4 | c.360C= (p.Pro120=) c.4758C= (p.Pro1586=) c.4203C= (p.Pro1401=) c.4569C= (p.Pro1523=) c.4216+13979C= (n.4216+13979C=) c.4677C= (p.Pro1559=) c.4650C= (p.Pro1550=) c.*91C= (n.*91C=) c.3084C= (p.Pro1028=) n.5068C= n.4526+13979C= c.4641C= (p.Pro1547=) n.5084C= n.4830C= n.4542+13979C= | |
2 | g.227008069G>T | CA431672084 | COL4A4 | c.360C>A (p.Pro120=) c.4758C>A (p.Pro1586=) c.4203C>A (p.Pro1401=) c.4569C>A (p.Pro1523=) c.4216+13979C>A (n.4216+13979C>A) c.4677C>A (p.Pro1559=) c.4650C>A (p.Pro1550=) c.*91C>A (n.*91C>A) c.3084C>A (p.Pro1028=) n.5068C>A n.4526+13979C>A c.4641C>A (p.Pro1547=) n.5084C>A n.4830C>A n.4542+13979C>A | ClinVar dbSNP gnomAD v4 |
2 | g.227008070G>A | CA351140542 | COL4A4 | c.359C>T (p.Pro120Leu) c.4757C>T (p.Pro1586Leu) c.4202C>T (p.Pro1401Leu) c.4568C>T (p.Pro1523Leu) c.4216+13978C>T (n.4216+13978C>T) c.4676C>T (p.Pro1559Leu) c.4649C>T (p.Pro1550Leu) c.*90C>T (n.*90C>T) c.3083C>T (p.Pro1028Leu) n.5067C>T n.4526+13978C>T c.4640C>T (p.Pro1547Leu) n.5083C>T n.4829C>T n.4542+13978C>T | gnomAD v4 |
2 | g.227008070G>C | CA351140543 | COL4A4 | c.359C>G (p.Pro120Arg) c.4757C>G (p.Pro1586Arg) c.4202C>G (p.Pro1401Arg) c.4568C>G (p.Pro1523Arg) c.4216+13978C>G (n.4216+13978C>G) c.4676C>G (p.Pro1559Arg) c.4649C>G (p.Pro1550Arg) c.*90C>G (n.*90C>G) c.3083C>G (p.Pro1028Arg) n.5067C>G n.4526+13978C>G c.4640C>G (p.Pro1547Arg) n.5083C>G n.4829C>G n.4542+13978C>G | gnomAD v4 |
2 | g.227008070G>T | CA351140544 | COL4A4 | c.359C>A (p.Pro120His) c.4757C>A (p.Pro1586His) c.4202C>A (p.Pro1401His) c.4568C>A (p.Pro1523His) c.4216+13978C>A (n.4216+13978C>A) c.4676C>A (p.Pro1559His) c.4649C>A (p.Pro1550His) c.*90C>A (n.*90C>A) c.3083C>A (p.Pro1028His) n.5067C>A n.4526+13978C>A c.4640C>A (p.Pro1547His) n.5083C>A n.4829C>A n.4542+13978C>A | |
2 | g.227008071G>A | CA351140545 | COL4A4 | c.358C>T (p.Pro120Ser) c.4756C>T (p.Pro1586Ser) c.4201C>T (p.Pro1401Ser) c.4567C>T (p.Pro1523Ser) c.4216+13977C>T (n.4216+13977C>T) c.4675C>T (p.Pro1559Ser) c.4648C>T (p.Pro1550Ser) c.*89C>T (n.*89C>T) c.3082C>T (p.Pro1028Ser) n.5066C>T n.4526+13977C>T c.4639C>T (p.Pro1547Ser) n.5082C>T n.4828C>T n.4542+13977C>T | dbSNP |
2 | g.227008071G>C | CA351140546 | COL4A4 | c.358C>G (p.Pro120Ala) c.4756C>G (p.Pro1586Ala) c.4201C>G (p.Pro1401Ala) c.4567C>G (p.Pro1523Ala) c.4216+13977C>G (n.4216+13977C>G) c.4675C>G (p.Pro1559Ala) c.4648C>G (p.Pro1550Ala) c.*89C>G (n.*89C>G) c.3082C>G (p.Pro1028Ala) n.5066C>G n.4526+13977C>G c.4639C>G (p.Pro1547Ala) n.5082C>G n.4828C>G n.4542+13977C>G | |
2 | g.227008071G= | CA1332723889 | COL4A4 | c.358C= (p.Pro120=) c.4756C= (p.Pro1586=) c.4201C= (p.Pro1401=) c.4567C= (p.Pro1523=) c.4216+13977C= (n.4216+13977C=) c.4675C= (p.Pro1559=) c.4648C= (p.Pro1550=) c.*89C= (n.*89C=) c.3082C= (p.Pro1028=) n.5066C= n.4526+13977C= c.4639C= (p.Pro1547=) n.5082C= n.4828C= n.4542+13977C= | |
2 | g.227008071G>T | CA351140547 | COL4A4 | c.358C>A (p.Pro120Thr) c.4756C>A (p.Pro1586Thr) c.4201C>A (p.Pro1401Thr) c.4567C>A (p.Pro1523Thr) c.4216+13977C>A (n.4216+13977C>A) c.4675C>A (p.Pro1559Thr) c.4648C>A (p.Pro1550Thr) c.*89C>A (n.*89C>A) c.3082C>A (p.Pro1028Thr) n.5066C>A n.4526+13977C>A c.4639C>A (p.Pro1547Thr) n.5082C>A n.4828C>A n.4542+13977C>A | gnomAD v4 COSMIC |
2 | g.227008072G>A | CA67238293 | COL4A4 | c.357C>T (p.Ile119=) c.4755C>T (p.Ile1585=) c.4200C>T (p.Ile1400=) c.4566C>T (p.Ile1522=) c.4216+13976C>T (n.4216+13976C>T) c.4674C>T (p.Ile1558=) c.4647C>T (p.Ile1549=) c.*88C>T (n.*88C>T) c.3081C>T (p.Ile1027=) n.5065C>T n.4526+13976C>T c.4638C>T (p.Ile1546=) n.5081C>T n.4827C>T n.4542+13976C>T | ClinVar dbSNP |
2 | g.227008072G>C | CA351140548 | COL4A4 | c.357C>G (p.Ile119Met) c.4755C>G (p.Ile1585Met) c.4200C>G (p.Ile1400Met) c.4566C>G (p.Ile1522Met) c.4216+13976C>G (n.4216+13976C>G) c.4674C>G (p.Ile1558Met) c.4647C>G (p.Ile1549Met) c.*88C>G (n.*88C>G) c.3081C>G (p.Ile1027Met) n.5065C>G n.4526+13976C>G c.4638C>G (p.Ile1546Met) n.5081C>G n.4827C>G n.4542+13976C>G | |
2 | g.227008072G= | CA1332723890 | COL4A4 | c.357C= (p.Ile119=) c.4755C= (p.Ile1585=) c.4200C= (p.Ile1400=) c.4566C= (p.Ile1522=) c.4216+13976C= (n.4216+13976C=) c.4674C= (p.Ile1558=) c.4647C= (p.Ile1549=) c.*88C= (n.*88C=) c.3081C= (p.Ile1027=) n.5065C= n.4526+13976C= c.4638C= (p.Ile1546=) n.5081C= n.4827C= n.4542+13976C= | |
2 | g.227008072G>T | CA431672086 | COL4A4 | c.357C>A (p.Ile119=) c.4755C>A (p.Ile1585=) c.4200C>A (p.Ile1400=) c.4566C>A (p.Ile1522=) c.4216+13976C>A (n.4216+13976C>A) c.4674C>A (p.Ile1558=) c.4647C>A (p.Ile1549=) c.*88C>A (n.*88C>A) c.3081C>A (p.Ile1027=) n.5065C>A n.4526+13976C>A c.4638C>A (p.Ile1546=) n.5081C>A n.4827C>A n.4542+13976C>A | ClinVar dbSNP gnomAD v4 |
2 | g.227008073del | CA2577263043 | COL4A4 | c.356del (p.Ile119ThrfsTer18) c.4754del (p.Ile1585ThrfsTer18) c.4199del (p.Ile1400ThrfsTer18) c.4565del (p.Ile1522ThrfsTer18) c.4216+13975del (n.4216+13975del) c.4673del (p.Ile1558ThrfsTer18) c.4646del (p.Ile1549ThrfsTer18) c.*87del (n.*87del) c.3080del (p.Ile1027ThrfsTer18) n.5064del n.4526+13975del c.4637del (p.Ile1546ThrfsTer18) n.5080del n.4826del n.4542+13975del | |
2 | g.227008073A>C | CA351140549 | COL4A4 | c.356T>G (p.Ile119Ser) c.4754T>G (p.Ile1585Ser) c.4199T>G (p.Ile1400Ser) c.4565T>G (p.Ile1522Ser) c.4216+13975T>G (n.4216+13975T>G) c.4673T>G (p.Ile1558Ser) c.4646T>G (p.Ile1549Ser) c.*87T>G (n.*87T>G) c.3080T>G (p.Ile1027Ser) n.5064T>G n.4526+13975T>G c.4637T>G (p.Ile1546Ser) n.5080T>G n.4826T>G n.4542+13975T>G | |
2 | g.227008073A>G | CA351140550 | COL4A4 | c.356T>C (p.Ile119Thr) c.4754T>C (p.Ile1585Thr) c.4199T>C (p.Ile1400Thr) c.4565T>C (p.Ile1522Thr) c.4216+13975T>C (n.4216+13975T>C) c.4673T>C (p.Ile1558Thr) c.4646T>C (p.Ile1549Thr) c.*87T>C (n.*87T>C) c.3080T>C (p.Ile1027Thr) n.5064T>C n.4526+13975T>C c.4637T>C (p.Ile1546Thr) n.5080T>C n.4826T>C n.4542+13975T>C | |
2 | g.227008073A>T | CA351140551 | COL4A4 | c.356T>A (p.Ile119Asn) c.4754T>A (p.Ile1585Asn) c.4199T>A (p.Ile1400Asn) c.4565T>A (p.Ile1522Asn) c.4216+13975T>A (n.4216+13975T>A) c.4673T>A (p.Ile1558Asn) c.4646T>A (p.Ile1549Asn) c.*87T>A (n.*87T>A) c.3080T>A (p.Ile1027Asn) n.5064T>A n.4526+13975T>A c.4637T>A (p.Ile1546Asn) n.5080T>A n.4826T>A n.4542+13975T>A | |
2 | g.227008073dup | CA2838254481 | COL4A4 | c.356dup (p.Cys122MetfsTer?) c.4754dup (p.Cys1588MetfsTer?) c.4199dup (p.Cys1403MetfsTer?) c.4565dup (p.Cys1525MetfsTer?) c.4216+13975dup (n.4216+13975dup) c.4673dup (p.Cys1561MetfsTer?) c.4646dup (p.Cys1552MetfsTer?) c.4754dup (p.Cys1588MetfsTer26) c.*87dup (n.*87dup) c.3080dup (p.Cys1030MetfsTer?) n.5064dup n.4526+13975dup c.4637dup (p.Cys1549MetfsTer?) n.5080dup n.4826dup n.4542+13975dup | |
2 | g.227008074T>A | CA351140552 | COL4A4 | c.355A>T (p.Ile119Phe) c.4753A>T (p.Ile1585Phe) c.4198A>T (p.Ile1400Phe) c.4564A>T (p.Ile1522Phe) c.4216+13974A>T (n.4216+13974A>T) c.4672A>T (p.Ile1558Phe) c.4645A>T (p.Ile1549Phe) c.*86A>T (n.*86A>T) c.3079A>T (p.Ile1027Phe) n.5063A>T n.4526+13974A>T c.4636A>T (p.Ile1546Phe) n.5079A>T n.4825A>T n.4542+13974A>T | |
2 | g.227008074T>C | CA351140553 | COL4A4 | c.355A>G (p.Ile119Val) c.4753A>G (p.Ile1585Val) c.4198A>G (p.Ile1400Val) c.4564A>G (p.Ile1522Val) c.4216+13974A>G (n.4216+13974A>G) c.4672A>G (p.Ile1558Val) c.4645A>G (p.Ile1549Val) c.*86A>G (n.*86A>G) c.3079A>G (p.Ile1027Val) n.5063A>G n.4526+13974A>G c.4636A>G (p.Ile1546Val) n.5079A>G n.4825A>G n.4542+13974A>G | |
2 | g.227008074T>G | CA351140554 | COL4A4 | c.355A>C (p.Ile119Leu) c.4753A>C (p.Ile1585Leu) c.4198A>C (p.Ile1400Leu) c.4564A>C (p.Ile1522Leu) c.4216+13974A>C (n.4216+13974A>C) c.4672A>C (p.Ile1558Leu) c.4645A>C (p.Ile1549Leu) c.*86A>C (n.*86A>C) c.3079A>C (p.Ile1027Leu) n.5063A>C n.4526+13974A>C c.4636A>C (p.Ile1546Leu) n.5079A>C n.4825A>C n.4542+13974A>C | |
2 | g.227008075G>A | CA431672089 | COL4A4 | c.354C>T (p.Ser118=) c.4752C>T (p.Ser1584=) c.4197C>T (p.Ser1399=) c.4563C>T (p.Ser1521=) c.4216+13973C>T (n.4216+13973C>T) c.4671C>T (p.Ser1557=) c.4644C>T (p.Ser1548=) c.*85C>T (n.*85C>T) c.3078C>T (p.Ser1026=) n.5062C>T n.4526+13973C>T c.4635C>T (p.Ser1545=) n.5078C>T n.4824C>T n.4542+13973C>T | ClinVar |
2 | g.227008075G>C | CA431672090 | COL4A4 | c.354C>G (p.Ser118=) c.4752C>G (p.Ser1584=) c.4197C>G (p.Ser1399=) c.4563C>G (p.Ser1521=) c.4216+13973C>G (n.4216+13973C>G) c.4671C>G (p.Ser1557=) c.4644C>G (p.Ser1548=) c.*85C>G (n.*85C>G) c.3078C>G (p.Ser1026=) n.5062C>G n.4526+13973C>G c.4635C>G (p.Ser1545=) n.5078C>G n.4824C>G n.4542+13973C>G | |
2 | g.227008075G>T | CA431672091 | COL4A4 | c.354C>A (p.Ser118=) c.4752C>A (p.Ser1584=) c.4197C>A (p.Ser1399=) c.4563C>A (p.Ser1521=) c.4216+13973C>A (n.4216+13973C>A) c.4671C>A (p.Ser1557=) c.4644C>A (p.Ser1548=) c.*85C>A (n.*85C>A) c.3078C>A (p.Ser1026=) n.5062C>A n.4526+13973C>A c.4635C>A (p.Ser1545=) n.5078C>A n.4824C>A n.4542+13973C>A | |
2 | g.227008076G>A | CA351140555 | COL4A4 | c.353C>T (p.Ser118Phe) c.4751C>T (p.Ser1584Phe) c.4196C>T (p.Ser1399Phe) c.4562C>T (p.Ser1521Phe) c.4216+13972C>T (n.4216+13972C>T) c.4670C>T (p.Ser1557Phe) c.4643C>T (p.Ser1548Phe) c.*84C>T (n.*84C>T) c.3077C>T (p.Ser1026Phe) n.5061C>T n.4526+13972C>T c.4634C>T (p.Ser1545Phe) n.5077C>T n.4823C>T n.4542+13972C>T | dbSNP gnomAD v4 COSMIC |
2 | g.227008076G>C | CA351140557 | COL4A4 | c.353C>G (p.Ser118Cys) c.4751C>G (p.Ser1584Cys) c.4196C>G (p.Ser1399Cys) c.4562C>G (p.Ser1521Cys) c.4216+13972C>G (n.4216+13972C>G) c.4670C>G (p.Ser1557Cys) c.4643C>G (p.Ser1548Cys) c.*84C>G (n.*84C>G) c.3077C>G (p.Ser1026Cys) n.5061C>G n.4526+13972C>G c.4634C>G (p.Ser1545Cys) n.5077C>G n.4823C>G n.4542+13972C>G | dbSNP |
2 | g.227008076G= | CA1332723891 | COL4A4 | c.353C= (p.Ser118=) c.4751C= (p.Ser1584=) c.4196C= (p.Ser1399=) c.4562C= (p.Ser1521=) c.4216+13972C= (n.4216+13972C=) c.4670C= (p.Ser1557=) c.4643C= (p.Ser1548=) c.*84C= (n.*84C=) c.3077C= (p.Ser1026=) n.5061C= n.4526+13972C= c.4634C= (p.Ser1545=) n.5077C= n.4823C= n.4542+13972C= | |
2 | g.227008076G>T | CA351140556 | COL4A4 | c.353C>A (p.Ser118Tyr) c.4751C>A (p.Ser1584Tyr) c.4196C>A (p.Ser1399Tyr) c.4562C>A (p.Ser1521Tyr) c.4216+13972C>A (n.4216+13972C>A) c.4670C>A (p.Ser1557Tyr) c.4643C>A (p.Ser1548Tyr) c.*84C>A (n.*84C>A) c.3077C>A (p.Ser1026Tyr) n.5061C>A n.4526+13972C>A c.4634C>A (p.Ser1545Tyr) n.5077C>A n.4823C>A n.4542+13972C>A | |
2 | g.227008076_227008078del | CA2586965583 | COL4A4 | c.351_353del (p.Gln117_Ser118delinsHis) c.4749_4751del (p.Gln1583_Ser1584delinsHis) c.4194_4196del (p.Gln1398_Ser1399delinsHis) c.4560_4562del (p.Gln1520_Ser1521delinsHis) c.4216+13970_4216+13972del (n.4216+13970_4216+13972del) c.4668_4670del (p.Gln1556_Ser1557delinsHis) c.4641_4643del (p.Gln1547_Ser1548delinsHis) c.*82_*84del (n.*82_*84del) c.3075_3077del (p.Gln1025_Ser1026delinsHis) n.5059_5061del n.4526+13970_4526+13972del c.4632_4634del (p.Gln1544_Ser1545delinsHis) n.5075_5077del n.4821_4823del n.4542+13970_4542+13972del | |
2 | g.227008077A>C | CA351140558 | COL4A4 | c.352T>G (p.Ser118Ala) c.4750T>G (p.Ser1584Ala) c.4195T>G (p.Ser1399Ala) c.4561T>G (p.Ser1521Ala) c.4216+13971T>G (n.4216+13971T>G) c.4669T>G (p.Ser1557Ala) c.4642T>G (p.Ser1548Ala) c.*83T>G (n.*83T>G) c.3076T>G (p.Ser1026Ala) n.5060T>G n.4526+13971T>G c.4633T>G (p.Ser1545Ala) n.5076T>G n.4822T>G n.4542+13971T>G | |
2 | g.227008077A>G | CA351140559 | COL4A4 | c.352T>C (p.Ser118Pro) c.4750T>C (p.Ser1584Pro) c.4195T>C (p.Ser1399Pro) c.4561T>C (p.Ser1521Pro) c.4216+13971T>C (n.4216+13971T>C) c.4669T>C (p.Ser1557Pro) c.4642T>C (p.Ser1548Pro) c.*83T>C (n.*83T>C) c.3076T>C (p.Ser1026Pro) n.5060T>C n.4526+13971T>C c.4633T>C (p.Ser1545Pro) n.5076T>C n.4822T>C n.4542+13971T>C | |
2 | g.227008077A>T | CA351140560 | COL4A4 | c.352T>A (p.Ser118Thr) c.4750T>A (p.Ser1584Thr) c.4195T>A (p.Ser1399Thr) c.4561T>A (p.Ser1521Thr) c.4216+13971T>A (n.4216+13971T>A) c.4669T>A (p.Ser1557Thr) c.4642T>A (p.Ser1548Thr) c.*83T>A (n.*83T>A) c.3076T>A (p.Ser1026Thr) n.5060T>A n.4526+13971T>A c.4633T>A (p.Ser1545Thr) n.5076T>A n.4822T>A n.4542+13971T>A | |
2 | g.227008078C>A | CA351140561 | COL4A4 | c.351G>T (p.Gln117His) c.4749G>T (p.Gln1583His) c.4194G>T (p.Gln1398His) c.4560G>T (p.Gln1520His) c.4216+13970G>T (n.4216+13970G>T) c.4668G>T (p.Gln1556His) c.4641G>T (p.Gln1547His) c.*82G>T (n.*82G>T) c.3075G>T (p.Gln1025His) n.5059G>T n.4526+13970G>T c.4632G>T (p.Gln1544His) n.5075G>T n.4821G>T n.4542+13970G>T | |
2 | g.227008078C= | CA1332723892 | COL4A4 | c.351G= (p.Gln117=) c.4749G= (p.Gln1583=) c.4194G= (p.Gln1398=) c.4560G= (p.Gln1520=) c.4216+13970G= (n.4216+13970G=) c.4668G= (p.Gln1556=) c.4641G= (p.Gln1547=) c.*82G= (n.*82G=) c.3075G= (p.Gln1025=) n.5059G= n.4526+13970G= c.4632G= (p.Gln1544=) n.5075G= n.4821G= n.4542+13970G= | |
2 | g.227008078C>G | CA351140562 | COL4A4 | c.351G>C (p.Gln117His) c.4749G>C (p.Gln1583His) c.4194G>C (p.Gln1398His) c.4560G>C (p.Gln1520His) c.4216+13970G>C (n.4216+13970G>C) c.4668G>C (p.Gln1556His) c.4641G>C (p.Gln1547His) c.*82G>C (n.*82G>C) c.3075G>C (p.Gln1025His) n.5059G>C n.4526+13970G>C c.4632G>C (p.Gln1544His) n.5075G>C n.4821G>C n.4542+13970G>C | |
2 | g.227008078C>T | CA431672092 | COL4A4 | c.351G>A (p.Gln117=) c.4749G>A (p.Gln1583=) c.4194G>A (p.Gln1398=) c.4560G>A (p.Gln1520=) c.4216+13970G>A (n.4216+13970G>A) c.4668G>A (p.Gln1556=) c.4641G>A (p.Gln1547=) c.*82G>A (n.*82G>A) c.3075G>A (p.Gln1025=) n.5059G>A n.4526+13970G>A c.4632G>A (p.Gln1544=) n.5075G>A n.4821G>A n.4542+13970G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008079T>A | CA2144079 | COL4A4 | c.350A>T (p.Gln117Leu) c.4748A>T (p.Gln1583Leu) c.4193A>T (p.Gln1398Leu) c.4559A>T (p.Gln1520Leu) c.4216+13969A>T (n.4216+13969A>T) c.4667A>T (p.Gln1556Leu) c.4640A>T (p.Gln1547Leu) c.*81A>T (n.*81A>T) c.3074A>T (p.Gln1025Leu) n.5058A>T n.4526+13969A>T c.4631A>T (p.Gln1544Leu) n.5074A>T n.4820A>T n.4542+13969A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008079T>C | CA351140563 | COL4A4 | c.350A>G (p.Gln117Arg) c.4748A>G (p.Gln1583Arg) c.4193A>G (p.Gln1398Arg) c.4559A>G (p.Gln1520Arg) c.4216+13969A>G (n.4216+13969A>G) c.4667A>G (p.Gln1556Arg) c.4640A>G (p.Gln1547Arg) c.*81A>G (n.*81A>G) c.3074A>G (p.Gln1025Arg) n.5058A>G n.4526+13969A>G c.4631A>G (p.Gln1544Arg) n.5074A>G n.4820A>G n.4542+13969A>G | gnomAD v4 |
2 | g.227008079T>G | CA351140564 | COL4A4 | c.350A>C (p.Gln117Pro) c.4748A>C (p.Gln1583Pro) c.4193A>C (p.Gln1398Pro) c.4559A>C (p.Gln1520Pro) c.4216+13969A>C (n.4216+13969A>C) c.4667A>C (p.Gln1556Pro) c.4640A>C (p.Gln1547Pro) c.*81A>C (n.*81A>C) c.3074A>C (p.Gln1025Pro) n.5058A>C n.4526+13969A>C c.4631A>C (p.Gln1544Pro) n.5074A>C n.4820A>C n.4542+13969A>C | |
2 | g.227008079T= | CA1332723893 | COL4A4 | c.350A= (p.Gln117=) c.4748A= (p.Gln1583=) c.4193A= (p.Gln1398=) c.4559A= (p.Gln1520=) c.4216+13969A= (n.4216+13969A=) c.4667A= (p.Gln1556=) c.4640A= (p.Gln1547=) c.*81A= (n.*81A=) c.3074A= (p.Gln1025=) n.5058A= n.4526+13969A= c.4631A= (p.Gln1544=) n.5074A= n.4820A= n.4542+13969A= | |
2 | g.227008080G>A | CA351140565 | COL4A4 | c.349C>T (p.Gln117Ter) c.4747C>T (p.Gln1583Ter) c.4192C>T (p.Gln1398Ter) c.4558C>T (p.Gln1520Ter) c.4216+13968C>T (n.4216+13968C>T) c.4666C>T (p.Gln1556Ter) c.4639C>T (p.Gln1547Ter) c.*80C>T (n.*80C>T) c.3073C>T (p.Gln1025Ter) n.5057C>T n.4526+13968C>T c.4630C>T (p.Gln1544Ter) n.5073C>T n.4819C>T n.4542+13968C>T | ClinVar |
2 | g.227008080G>C | CA351140566 | COL4A4 | c.349C>G (p.Gln117Glu) c.4747C>G (p.Gln1583Glu) c.4192C>G (p.Gln1398Glu) c.4558C>G (p.Gln1520Glu) c.4216+13968C>G (n.4216+13968C>G) c.4666C>G (p.Gln1556Glu) c.4639C>G (p.Gln1547Glu) c.*80C>G (n.*80C>G) c.3073C>G (p.Gln1025Glu) n.5057C>G n.4526+13968C>G c.4630C>G (p.Gln1544Glu) n.5073C>G n.4819C>G n.4542+13968C>G | |
2 | g.227008080G>T | CA351140567 | COL4A4 | c.349C>A (p.Gln117Lys) c.4747C>A (p.Gln1583Lys) c.4192C>A (p.Gln1398Lys) c.4558C>A (p.Gln1520Lys) c.4216+13968C>A (n.4216+13968C>A) c.4666C>A (p.Gln1556Lys) c.4639C>A (p.Gln1547Lys) c.*80C>A (n.*80C>A) c.3073C>A (p.Gln1025Lys) n.5057C>A n.4526+13968C>A c.4630C>A (p.Gln1544Lys) n.5073C>A n.4819C>A n.4542+13968C>A | |
2 | g.227008081G>A | CA431672094 | COL4A4 | c.348C>T (p.Asp116=) c.4746C>T (p.Asp1582=) c.4191C>T (p.Asp1397=) c.4557C>T (p.Asp1519=) c.4216+13967C>T (n.4216+13967C>T) c.4665C>T (p.Asp1555=) c.4638C>T (p.Asp1546=) c.*79C>T (n.*79C>T) c.3072C>T (p.Asp1024=) n.5056C>T n.4526+13967C>T c.4629C>T (p.Asp1543=) n.5072C>T n.4818C>T n.4542+13967C>T | |
2 | g.227008081G>C | CA351140569 | COL4A4 | c.348C>G (p.Asp116Glu) c.4746C>G (p.Asp1582Glu) c.4191C>G (p.Asp1397Glu) c.4557C>G (p.Asp1519Glu) c.4216+13967C>G (n.4216+13967C>G) c.4665C>G (p.Asp1555Glu) c.4638C>G (p.Asp1546Glu) c.*79C>G (n.*79C>G) c.3072C>G (p.Asp1024Glu) n.5056C>G n.4526+13967C>G c.4629C>G (p.Asp1543Glu) n.5072C>G n.4818C>G n.4542+13967C>G | |
2 | g.227008081G>T | CA351140568 | COL4A4 | c.348C>A (p.Asp116Glu) c.4746C>A (p.Asp1582Glu) c.4191C>A (p.Asp1397Glu) c.4557C>A (p.Asp1519Glu) c.4216+13967C>A (n.4216+13967C>A) c.4665C>A (p.Asp1555Glu) c.4638C>A (p.Asp1546Glu) c.*79C>A (n.*79C>A) c.3072C>A (p.Asp1024Glu) n.5056C>A n.4526+13967C>A c.4629C>A (p.Asp1543Glu) n.5072C>A n.4818C>A n.4542+13967C>A | |
2 | g.227008082T>A | CA351140570 | COL4A4 | c.347A>T (p.Asp116Val) c.4745A>T (p.Asp1582Val) c.4190A>T (p.Asp1397Val) c.4556A>T (p.Asp1519Val) c.4216+13966A>T (n.4216+13966A>T) c.4664A>T (p.Asp1555Val) c.4637A>T (p.Asp1546Val) c.*78A>T (n.*78A>T) c.3071A>T (p.Asp1024Val) n.5055A>T n.4526+13966A>T c.4628A>T (p.Asp1543Val) n.5071A>T n.4817A>T n.4542+13966A>T | |
2 | g.227008082T>C | CA351140571 | COL4A4 | c.347A>G (p.Asp116Gly) c.4745A>G (p.Asp1582Gly) c.4190A>G (p.Asp1397Gly) c.4556A>G (p.Asp1519Gly) c.4216+13966A>G (n.4216+13966A>G) c.4664A>G (p.Asp1555Gly) c.4637A>G (p.Asp1546Gly) c.*78A>G (n.*78A>G) c.3071A>G (p.Asp1024Gly) n.5055A>G n.4526+13966A>G c.4628A>G (p.Asp1543Gly) n.5071A>G n.4817A>G n.4542+13966A>G | |
2 | g.227008082T>G | CA351140572 | COL4A4 | c.347A>C (p.Asp116Ala) c.4745A>C (p.Asp1582Ala) c.4190A>C (p.Asp1397Ala) c.4556A>C (p.Asp1519Ala) c.4216+13966A>C (n.4216+13966A>C) c.4664A>C (p.Asp1555Ala) c.4637A>C (p.Asp1546Ala) c.*78A>C (n.*78A>C) c.3071A>C (p.Asp1024Ala) n.5055A>C n.4526+13966A>C c.4628A>C (p.Asp1543Ala) n.5071A>C n.4817A>C n.4542+13966A>C | dbSNP gnomAD v4 |
2 | g.227008082T= | CA1332723894 | COL4A4 | c.347A= (p.Asp116=) c.4745A= (p.Asp1582=) c.4190A= (p.Asp1397=) c.4556A= (p.Asp1519=) c.4216+13966A= (n.4216+13966A=) c.4664A= (p.Asp1555=) c.4637A= (p.Asp1546=) c.*78A= (n.*78A=) c.3071A= (p.Asp1024=) n.5055A= n.4526+13966A= c.4628A= (p.Asp1543=) n.5071A= n.4817A= n.4542+13966A= | |
2 | g.227008083C>A | CA351140573 | COL4A4 | c.346G>T (p.Asp116Tyr) c.4744G>T (p.Asp1582Tyr) c.4189G>T (p.Asp1397Tyr) c.4555G>T (p.Asp1519Tyr) c.4216+13965G>T (n.4216+13965G>T) c.4663G>T (p.Asp1555Tyr) c.4636G>T (p.Asp1546Tyr) c.*77G>T (n.*77G>T) c.3070G>T (p.Asp1024Tyr) n.5054G>T n.4526+13965G>T c.4627G>T (p.Asp1543Tyr) n.5070G>T n.4816G>T n.4542+13965G>T | |
2 | g.227008083C= | CA1332723895 | COL4A4 | c.346G= (p.Asp116=) c.4744G= (p.Asp1582=) c.4189G= (p.Asp1397=) c.4555G= (p.Asp1519=) c.4216+13965G= (n.4216+13965G=) c.4663G= (p.Asp1555=) c.4636G= (p.Asp1546=) c.*77G= (n.*77G=) c.3070G= (p.Asp1024=) n.5054G= n.4526+13965G= c.4627G= (p.Asp1543=) n.5070G= n.4816G= n.4542+13965G= | |
2 | g.227008083C>G | CA351140574 | COL4A4 | c.346G>C (p.Asp116His) c.4744G>C (p.Asp1582His) c.4189G>C (p.Asp1397His) c.4555G>C (p.Asp1519His) c.4216+13965G>C (n.4216+13965G>C) c.4663G>C (p.Asp1555His) c.4636G>C (p.Asp1546His) c.*77G>C (n.*77G>C) c.3070G>C (p.Asp1024His) n.5054G>C n.4526+13965G>C c.4627G>C (p.Asp1543His) n.5070G>C n.4816G>C n.4542+13965G>C | |
2 | g.227008083C>T | CA351140575 | COL4A4 | c.346G>A (p.Asp116Asn) c.4744G>A (p.Asp1582Asn) c.4189G>A (p.Asp1397Asn) c.4555G>A (p.Asp1519Asn) c.4216+13965G>A (n.4216+13965G>A) c.4663G>A (p.Asp1555Asn) c.4636G>A (p.Asp1546Asn) c.*77G>A (n.*77G>A) c.3070G>A (p.Asp1024Asn) n.5054G>A n.4526+13965G>A c.4627G>A (p.Asp1543Asn) n.5070G>A n.4816G>A n.4542+13965G>A | dbSNP gnomAD v4 |
2 | g.227008083_227008086delinsTCTT | CA2573135351 | COL4A4 | c.343_346delinsAAGA (p.Gln115_Asp116delinsLysAsn) c.4741_4744delinsAAGA (p.Gln1581_Asp1582delinsLysAsn) c.4186_4189delinsAAGA (p.Gln1396_Asp1397delinsLysAsn) c.4552_4555delinsAAGA (p.Gln1518_Asp1519delinsLysAsn) c.4216+13962_4216+13965delinsAAGA (n.4216+13962_4216+13965delinsAAGA) c.4660_4663delinsAAGA (p.Gln1554_Asp1555delinsLysAsn) c.4633_4636delinsAAGA (p.Gln1545_Asp1546delinsLysAsn) c.*74_*77delinsAAGA (n.*74_*77delinsAAGA) c.3067_3070delinsAAGA (p.Gln1023_Asp1024delinsLysAsn) n.5051_5054delinsAAGA n.4526+13962_4526+13965delinsAAGA c.4624_4627delinsAAGA (p.Gln1542_Asp1543delinsLysAsn) n.5067_5070delinsAAGA n.4813_4816delinsAAGA n.4542+13962_4542+13965delinsAAGA | ClinVar dbSNP |
2 | g.227008084C>A | CA351140576 | COL4A4 | c.345G>T (p.Gln115His) c.4743G>T (p.Gln1581His) c.4188G>T (p.Gln1396His) c.4554G>T (p.Gln1518His) c.4216+13964G>T (n.4216+13964G>T) c.4662G>T (p.Gln1554His) c.4635G>T (p.Gln1545His) c.*76G>T (n.*76G>T) c.3069G>T (p.Gln1023His) n.5053G>T n.4526+13964G>T c.4626G>T (p.Gln1542His) n.5069G>T n.4815G>T n.4542+13964G>T | |
2 | g.227008084C>G | CA351140577 | COL4A4 | c.345G>C (p.Gln115His) c.4743G>C (p.Gln1581His) c.4188G>C (p.Gln1396His) c.4554G>C (p.Gln1518His) c.4216+13964G>C (n.4216+13964G>C) c.4662G>C (p.Gln1554His) c.4635G>C (p.Gln1545His) c.*76G>C (n.*76G>C) c.3069G>C (p.Gln1023His) n.5053G>C n.4526+13964G>C c.4626G>C (p.Gln1542His) n.5069G>C n.4815G>C n.4542+13964G>C | |
2 | g.227008084C>T | CA431672095 | COL4A4 | c.345G>A (p.Gln115=) c.4743G>A (p.Gln1581=) c.4188G>A (p.Gln1396=) c.4554G>A (p.Gln1518=) c.4216+13964G>A (n.4216+13964G>A) c.4662G>A (p.Gln1554=) c.4635G>A (p.Gln1545=) c.*76G>A (n.*76G>A) c.3069G>A (p.Gln1023=) n.5053G>A n.4526+13964G>A c.4626G>A (p.Gln1542=) n.5069G>A n.4815G>A n.4542+13964G>A | |
2 | g.227008085T>A | CA351140578 | COL4A4 | c.344A>T (p.Gln115Leu) c.4742A>T (p.Gln1581Leu) c.4187A>T (p.Gln1396Leu) c.4553A>T (p.Gln1518Leu) c.4216+13963A>T (n.4216+13963A>T) c.4661A>T (p.Gln1554Leu) c.4634A>T (p.Gln1545Leu) c.*75A>T (n.*75A>T) c.3068A>T (p.Gln1023Leu) n.5052A>T n.4526+13963A>T c.4625A>T (p.Gln1542Leu) n.5068A>T n.4814A>T n.4542+13963A>T | |
2 | g.227008085T>C | CA351140579 | COL4A4 | c.344A>G (p.Gln115Arg) c.4742A>G (p.Gln1581Arg) c.4187A>G (p.Gln1396Arg) c.4553A>G (p.Gln1518Arg) c.4216+13963A>G (n.4216+13963A>G) c.4661A>G (p.Gln1554Arg) c.4634A>G (p.Gln1545Arg) c.*75A>G (n.*75A>G) c.3068A>G (p.Gln1023Arg) n.5052A>G n.4526+13963A>G c.4625A>G (p.Gln1542Arg) n.5068A>G n.4814A>G n.4542+13963A>G | |
2 | g.227008085T>G | CA351140580 | COL4A4 | c.344A>C (p.Gln115Pro) c.4742A>C (p.Gln1581Pro) c.4187A>C (p.Gln1396Pro) c.4553A>C (p.Gln1518Pro) c.4216+13963A>C (n.4216+13963A>C) c.4661A>C (p.Gln1554Pro) c.4634A>C (p.Gln1545Pro) c.*75A>C (n.*75A>C) c.3068A>C (p.Gln1023Pro) n.5052A>C n.4526+13963A>C c.4625A>C (p.Gln1542Pro) n.5068A>C n.4814A>C n.4542+13963A>C | |
2 | g.227008086G>A | CA351140581 | COL4A4 | c.343C>T (p.Gln115Ter) c.4741C>T (p.Gln1581Ter) c.4186C>T (p.Gln1396Ter) c.4552C>T (p.Gln1518Ter) c.4216+13962C>T (n.4216+13962C>T) c.4660C>T (p.Gln1554Ter) c.4633C>T (p.Gln1545Ter) c.*74C>T (n.*74C>T) c.3067C>T (p.Gln1023Ter) n.5051C>T n.4526+13962C>T c.4624C>T (p.Gln1542Ter) n.5067C>T n.4813C>T n.4542+13962C>T | |
2 | g.227008086G>C | CA351140582 | COL4A4 | c.343C>G (p.Gln115Glu) c.4741C>G (p.Gln1581Glu) c.4186C>G (p.Gln1396Glu) c.4552C>G (p.Gln1518Glu) c.4216+13962C>G (n.4216+13962C>G) c.4660C>G (p.Gln1554Glu) c.4633C>G (p.Gln1545Glu) c.*74C>G (n.*74C>G) c.3067C>G (p.Gln1023Glu) n.5051C>G n.4526+13962C>G c.4624C>G (p.Gln1542Glu) n.5067C>G n.4813C>G n.4542+13962C>G | |
2 | g.227008086G>T | CA351140583 | COL4A4 | c.343C>A (p.Gln115Lys) c.4741C>A (p.Gln1581Lys) c.4186C>A (p.Gln1396Lys) c.4552C>A (p.Gln1518Lys) c.4216+13962C>A (n.4216+13962C>A) c.4660C>A (p.Gln1554Lys) c.4633C>A (p.Gln1545Lys) c.*74C>A (n.*74C>A) c.3067C>A (p.Gln1023Lys) n.5051C>A n.4526+13962C>A c.4624C>A (p.Gln1542Lys) n.5067C>A n.4813C>A n.4542+13962C>A | |
2 | g.227008087G>A | CA431672096 | COL4A4 | c.342C>T (p.Ser114=) c.4740C>T (p.Ser1580=) c.4185C>T (p.Ser1395=) c.4551C>T (p.Ser1517=) c.4216+13961C>T (n.4216+13961C>T) c.4659C>T (p.Ser1553=) c.4632C>T (p.Ser1544=) c.*73C>T (n.*73C>T) c.3066C>T (p.Ser1022=) n.5050C>T n.4526+13961C>T c.4623C>T (p.Ser1541=) n.5066C>T n.4812C>T n.4542+13961C>T | |
2 | g.227008087G>C | CA351140585 | COL4A4 | c.342C>G (p.Ser114Arg) c.4740C>G (p.Ser1580Arg) c.4185C>G (p.Ser1395Arg) c.4551C>G (p.Ser1517Arg) c.4216+13961C>G (n.4216+13961C>G) c.4659C>G (p.Ser1553Arg) c.4632C>G (p.Ser1544Arg) c.*73C>G (n.*73C>G) c.3066C>G (p.Ser1022Arg) n.5050C>G n.4526+13961C>G c.4623C>G (p.Ser1541Arg) n.5066C>G n.4812C>G n.4542+13961C>G | |
2 | g.227008087G>T | CA351140584 | COL4A4 | c.342C>A (p.Ser114Arg) c.4740C>A (p.Ser1580Arg) c.4185C>A (p.Ser1395Arg) c.4551C>A (p.Ser1517Arg) c.4216+13961C>A (n.4216+13961C>A) c.4659C>A (p.Ser1553Arg) c.4632C>A (p.Ser1544Arg) c.*73C>A (n.*73C>A) c.3066C>A (p.Ser1022Arg) n.5050C>A n.4526+13961C>A c.4623C>A (p.Ser1541Arg) n.5066C>A n.4812C>A n.4542+13961C>A | |
2 | g.227008088C>A | CA351140586 | COL4A4 | c.341G>T (p.Ser114Ile) c.4739G>T (p.Ser1580Ile) c.4184G>T (p.Ser1395Ile) c.4550G>T (p.Ser1517Ile) c.4216+13960G>T (n.4216+13960G>T) c.4658G>T (p.Ser1553Ile) c.4631G>T (p.Ser1544Ile) c.*72G>T (n.*72G>T) c.3065G>T (p.Ser1022Ile) n.5049G>T n.4526+13960G>T c.4622G>T (p.Ser1541Ile) n.5065G>T n.4811G>T n.4542+13960G>T | |
2 | g.227008088C= | CA1332723896 | COL4A4 | c.341G= (p.Ser114=) c.4739G= (p.Ser1580=) c.4184G= (p.Ser1395=) c.4550G= (p.Ser1517=) c.4216+13960G= (n.4216+13960G=) c.4658G= (p.Ser1553=) c.4631G= (p.Ser1544=) c.*72G= (n.*72G=) c.3065G= (p.Ser1022=) n.5049G= n.4526+13960G= c.4622G= (p.Ser1541=) n.5065G= n.4811G= n.4542+13960G= | |
2 | g.227008088C>G | CA351140587 | COL4A4 | c.341G>C (p.Ser114Thr) c.4739G>C (p.Ser1580Thr) c.4184G>C (p.Ser1395Thr) c.4550G>C (p.Ser1517Thr) c.4216+13960G>C (n.4216+13960G>C) c.4658G>C (p.Ser1553Thr) c.4631G>C (p.Ser1544Thr) c.*72G>C (n.*72G>C) c.3065G>C (p.Ser1022Thr) n.5049G>C n.4526+13960G>C c.4622G>C (p.Ser1541Thr) n.5065G>C n.4811G>C n.4542+13960G>C | |
2 | g.227008088C>T | CA2144080 | COL4A4 | c.341G>A (p.Ser114Asn) c.4739G>A (p.Ser1580Asn) c.4184G>A (p.Ser1395Asn) c.4550G>A (p.Ser1517Asn) c.4216+13960G>A (n.4216+13960G>A) c.4658G>A (p.Ser1553Asn) c.4631G>A (p.Ser1544Asn) c.*72G>A (n.*72G>A) c.3065G>A (p.Ser1022Asn) n.5049G>A n.4526+13960G>A c.4622G>A (p.Ser1541Asn) n.5065G>A n.4811G>A n.4542+13960G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008089T>A | CA351140588 | COL4A4 | c.340A>T (p.Ser114Cys) c.4738A>T (p.Ser1580Cys) c.4183A>T (p.Ser1395Cys) c.4549A>T (p.Ser1517Cys) c.4216+13959A>T (n.4216+13959A>T) c.4657A>T (p.Ser1553Cys) c.4630A>T (p.Ser1544Cys) c.*71A>T (n.*71A>T) c.3064A>T (p.Ser1022Cys) n.5048A>T n.4526+13959A>T c.4621A>T (p.Ser1541Cys) n.5064A>T n.4810A>T n.4542+13959A>T | |
2 | g.227008089T>C | CA67238294 | COL4A4 | c.340A>G (p.Ser114Gly) c.4738A>G (p.Ser1580Gly) c.4183A>G (p.Ser1395Gly) c.4549A>G (p.Ser1517Gly) c.4216+13959A>G (n.4216+13959A>G) c.4657A>G (p.Ser1553Gly) c.4630A>G (p.Ser1544Gly) c.*71A>G (n.*71A>G) c.3064A>G (p.Ser1022Gly) n.5048A>G n.4526+13959A>G c.4621A>G (p.Ser1541Gly) n.5064A>G n.4810A>G n.4542+13959A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008089T>G | CA351140589 | COL4A4 | c.340A>C (p.Ser114Arg) c.4738A>C (p.Ser1580Arg) c.4183A>C (p.Ser1395Arg) c.4549A>C (p.Ser1517Arg) c.4216+13959A>C (n.4216+13959A>C) c.4657A>C (p.Ser1553Arg) c.4630A>C (p.Ser1544Arg) c.*71A>C (n.*71A>C) c.3064A>C (p.Ser1022Arg) n.5048A>C n.4526+13959A>C c.4621A>C (p.Ser1541Arg) n.5064A>C n.4810A>C n.4542+13959A>C | |
2 | g.227008089T= | CA1332723897 | COL4A4 | c.340A= (p.Ser114=) c.4738A= (p.Ser1580=) c.4183A= (p.Ser1395=) c.4549A= (p.Ser1517=) c.4216+13959A= (n.4216+13959A=) c.4657A= (p.Ser1553=) c.4630A= (p.Ser1544=) c.*71A= (n.*71A=) c.3064A= (p.Ser1022=) n.5048A= n.4526+13959A= c.4621A= (p.Ser1541=) n.5064A= n.4810A= n.4542+13959A= | |
2 | g.227008090G>A | CA431672097 | COL4A4 | c.339C>T (p.His113=) c.4737C>T (p.His1579=) c.4182C>T (p.His1394=) c.4548C>T (p.His1516=) c.4216+13958C>T (n.4216+13958C>T) c.4656C>T (p.His1552=) c.4629C>T (p.His1543=) c.*70C>T (n.*70C>T) c.3063C>T (p.His1021=) n.5047C>T n.4526+13958C>T c.4620C>T (p.His1540=) n.5063C>T n.4809C>T n.4542+13958C>T | ClinVar gnomAD v4 |
2 | g.227008090G>C | CA351140591 | COL4A4 | c.339C>G (p.His113Gln) c.4737C>G (p.His1579Gln) c.4182C>G (p.His1394Gln) c.4548C>G (p.His1516Gln) c.4216+13958C>G (n.4216+13958C>G) c.4656C>G (p.His1552Gln) c.4629C>G (p.His1543Gln) c.*70C>G (n.*70C>G) c.3063C>G (p.His1021Gln) n.5047C>G n.4526+13958C>G c.4620C>G (p.His1540Gln) n.5063C>G n.4809C>G n.4542+13958C>G | |
2 | g.227008090G>T | CA351140590 | COL4A4 | c.339C>A (p.His113Gln) c.4737C>A (p.His1579Gln) c.4182C>A (p.His1394Gln) c.4548C>A (p.His1516Gln) c.4216+13958C>A (n.4216+13958C>A) c.4656C>A (p.His1552Gln) c.4629C>A (p.His1543Gln) c.*70C>A (n.*70C>A) c.3063C>A (p.His1021Gln) n.5047C>A n.4526+13958C>A c.4620C>A (p.His1540Gln) n.5063C>A n.4809C>A n.4542+13958C>A | |
2 | g.227008091T>A | CA351140592 | COL4A4 | c.338A>T (p.His113Leu) c.4736A>T (p.His1579Leu) c.4181A>T (p.His1394Leu) c.4547A>T (p.His1516Leu) c.4216+13957A>T (n.4216+13957A>T) c.4655A>T (p.His1552Leu) c.4628A>T (p.His1543Leu) c.*69A>T (n.*69A>T) c.3062A>T (p.His1021Leu) n.5046A>T n.4526+13957A>T c.4619A>T (p.His1540Leu) n.5062A>T n.4808A>T n.4542+13957A>T | |
2 | g.227008091T>C | CA351140593 | COL4A4 | c.338A>G (p.His113Arg) c.4736A>G (p.His1579Arg) c.4181A>G (p.His1394Arg) c.4547A>G (p.His1516Arg) c.4216+13957A>G (n.4216+13957A>G) c.4655A>G (p.His1552Arg) c.4628A>G (p.His1543Arg) c.*69A>G (n.*69A>G) c.3062A>G (p.His1021Arg) n.5046A>G n.4526+13957A>G c.4619A>G (p.His1540Arg) n.5062A>G n.4808A>G n.4542+13957A>G | |
2 | g.227008091T>G | CA351140594 | COL4A4 | c.338A>C (p.His113Pro) c.4736A>C (p.His1579Pro) c.4181A>C (p.His1394Pro) c.4547A>C (p.His1516Pro) c.4216+13957A>C (n.4216+13957A>C) c.4655A>C (p.His1552Pro) c.4628A>C (p.His1543Pro) c.*69A>C (n.*69A>C) c.3062A>C (p.His1021Pro) n.5046A>C n.4526+13957A>C c.4619A>C (p.His1540Pro) n.5062A>C n.4808A>C n.4542+13957A>C | |
2 | g.227008092G>A | CA351140595 | COL4A4 | c.337C>T (p.His113Tyr) c.4735C>T (p.His1579Tyr) c.4180C>T (p.His1394Tyr) c.4546C>T (p.His1516Tyr) c.4216+13956C>T (n.4216+13956C>T) c.4654C>T (p.His1552Tyr) c.4627C>T (p.His1543Tyr) c.*68C>T (n.*68C>T) c.3061C>T (p.His1021Tyr) n.5045C>T n.4526+13956C>T c.4618C>T (p.His1540Tyr) n.5061C>T n.4807C>T n.4542+13956C>T | |
2 | g.227008092G>C | CA351140596 | COL4A4 | c.337C>G (p.His113Asp) c.4735C>G (p.His1579Asp) c.4180C>G (p.His1394Asp) c.4546C>G (p.His1516Asp) c.4216+13956C>G (n.4216+13956C>G) c.4654C>G (p.His1552Asp) c.4627C>G (p.His1543Asp) c.*68C>G (n.*68C>G) c.3061C>G (p.His1021Asp) n.5045C>G n.4526+13956C>G c.4618C>G (p.His1540Asp) n.5061C>G n.4807C>G n.4542+13956C>G | |
2 | g.227008092G>T | CA351140597 | COL4A4 | c.337C>A (p.His113Asn) c.4735C>A (p.His1579Asn) c.4180C>A (p.His1394Asn) c.4546C>A (p.His1516Asn) c.4216+13956C>A (n.4216+13956C>A) c.4654C>A (p.His1552Asn) c.4627C>A (p.His1543Asn) c.*68C>A (n.*68C>A) c.3061C>A (p.His1021Asn) n.5045C>A n.4526+13956C>A c.4618C>A (p.His1540Asn) n.5061C>A n.4807C>A n.4542+13956C>A | |
2 | g.227008093C>A | CA431672098 | COL4A4 | c.336G>T (p.Val112=) c.4734G>T (p.Val1578=) c.4179G>T (p.Val1393=) c.4545G>T (p.Val1515=) c.4216+13955G>T (n.4216+13955G>T) c.4653G>T (p.Val1551=) c.4626G>T (p.Val1542=) c.*67G>T (n.*67G>T) c.3060G>T (p.Val1020=) n.5044G>T n.4526+13955G>T c.4617G>T (p.Val1539=) n.5060G>T n.4806G>T n.4542+13955G>T | |
2 | g.227008093C>G | CA431672100 | COL4A4 | c.336G>C (p.Val112=) c.4734G>C (p.Val1578=) c.4179G>C (p.Val1393=) c.4545G>C (p.Val1515=) c.4216+13955G>C (n.4216+13955G>C) c.4653G>C (p.Val1551=) c.4626G>C (p.Val1542=) c.*67G>C (n.*67G>C) c.3060G>C (p.Val1020=) n.5044G>C n.4526+13955G>C c.4617G>C (p.Val1539=) n.5060G>C n.4806G>C n.4542+13955G>C | ClinVar |
2 | g.227008093C>T | CA431672102 | COL4A4 | c.336G>A (p.Val112=) c.4734G>A (p.Val1578=) c.4179G>A (p.Val1393=) c.4545G>A (p.Val1515=) c.4216+13955G>A (n.4216+13955G>A) c.4653G>A (p.Val1551=) c.4626G>A (p.Val1542=) c.*67G>A (n.*67G>A) c.3060G>A (p.Val1020=) n.5044G>A n.4526+13955G>A c.4617G>A (p.Val1539=) n.5060G>A n.4806G>A n.4542+13955G>A | ClinVar dbSNP |
2 | g.227008094A= | CA1332723898 | COL4A4 | c.335T= (p.Val112=) c.4733T= (p.Val1578=) c.4178T= (p.Val1393=) c.4544T= (p.Val1515=) c.4216+13954T= (n.4216+13954T=) c.4652T= (p.Val1551=) c.4625T= (p.Val1542=) c.*66T= (n.*66T=) c.3059T= (p.Val1020=) n.5043T= n.4526+13954T= c.4616T= (p.Val1539=) n.5059T= n.4805T= n.4542+13954T= | |
2 | g.227008094A>C | CA351140598 | COL4A4 | c.335T>G (p.Val112Gly) c.4733T>G (p.Val1578Gly) c.4178T>G (p.Val1393Gly) c.4544T>G (p.Val1515Gly) c.4216+13954T>G (n.4216+13954T>G) c.4652T>G (p.Val1551Gly) c.4625T>G (p.Val1542Gly) c.*66T>G (n.*66T>G) c.3059T>G (p.Val1020Gly) n.5043T>G n.4526+13954T>G c.4616T>G (p.Val1539Gly) n.5059T>G n.4805T>G n.4542+13954T>G | dbSNP |
2 | g.227008094A>G | CA351140600 | COL4A4 | c.335T>C (p.Val112Ala) c.4733T>C (p.Val1578Ala) c.4178T>C (p.Val1393Ala) c.4544T>C (p.Val1515Ala) c.4216+13954T>C (n.4216+13954T>C) c.4652T>C (p.Val1551Ala) c.4625T>C (p.Val1542Ala) c.*66T>C (n.*66T>C) c.3059T>C (p.Val1020Ala) n.5043T>C n.4526+13954T>C c.4616T>C (p.Val1539Ala) n.5059T>C n.4805T>C n.4542+13954T>C | |
2 | g.227008094A>T | CA351140599 | COL4A4 | c.335T>A (p.Val112Glu) c.4733T>A (p.Val1578Glu) c.4178T>A (p.Val1393Glu) c.4544T>A (p.Val1515Glu) c.4216+13954T>A (n.4216+13954T>A) c.4652T>A (p.Val1551Glu) c.4625T>A (p.Val1542Glu) c.*66T>A (n.*66T>A) c.3059T>A (p.Val1020Glu) n.5043T>A n.4526+13954T>A c.4616T>A (p.Val1539Glu) n.5059T>A n.4805T>A n.4542+13954T>A | |
2 | g.227008094_227008097delinsACCG | CA1332723899 | COL4A4 | c.332_335delinsCGGT (p.Ala111=) c.4730_4733delinsCGGT (p.Ala1577=) c.4175_4178delinsCGGT (p.Ala1392=) c.4541_4544delinsCGGT (p.Ala1514=) c.4216+13951_4216+13954delinsCGGT (n.4216+13951_4216+13954delinsCGGT) c.4649_4652delinsCGGT (p.Ala1550=) c.4622_4625delinsCGGT (p.Ala1541=) c.*63_*66delinsCGGT (n.*63_*66delinsCGGT) c.3056_3059delinsCGGT (p.Ala1019=) n.5040_5043delinsCGGT n.4526+13951_4526+13954delinsCGGT c.4613_4616delinsCGGT (p.Ala1538=) n.5056_5059delinsCGGT n.4802_4805delinsCGGT n.4542+13951_4542+13954delinsCGGT | |
2 | g.227008095C>A | CA351140601 | COL4A4 | c.334G>T (p.Val112Leu) c.4732G>T (p.Val1578Leu) c.4177G>T (p.Val1393Leu) c.4543G>T (p.Val1515Leu) c.4216+13953G>T (n.4216+13953G>T) c.4651G>T (p.Val1551Leu) c.4624G>T (p.Val1542Leu) c.*65G>T (n.*65G>T) c.3058G>T (p.Val1020Leu) n.5042G>T n.4526+13953G>T c.4615G>T (p.Val1539Leu) n.5058G>T n.4804G>T n.4542+13953G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008095C= | CA1332723900 | COL4A4 | c.334G= (p.Val112=) c.4732G= (p.Val1578=) c.4177G= (p.Val1393=) c.4543G= (p.Val1515=) c.4216+13953G= (n.4216+13953G=) c.4651G= (p.Val1551=) c.4624G= (p.Val1542=) c.*65G= (n.*65G=) c.3058G= (p.Val1020=) n.5042G= n.4526+13953G= c.4615G= (p.Val1539=) n.5058G= n.4804G= n.4542+13953G= | |
2 | g.227008095C>G | CA351140603 | COL4A4 | c.334G>C (p.Val112Leu) c.4732G>C (p.Val1578Leu) c.4177G>C (p.Val1393Leu) c.4543G>C (p.Val1515Leu) c.4216+13953G>C (n.4216+13953G>C) c.4651G>C (p.Val1551Leu) c.4624G>C (p.Val1542Leu) c.*65G>C (n.*65G>C) c.3058G>C (p.Val1020Leu) n.5042G>C n.4526+13953G>C c.4615G>C (p.Val1539Leu) n.5058G>C n.4804G>C n.4542+13953G>C | |
2 | g.227008095C>T | CA351140602 | COL4A4 | c.334G>A (p.Val112Met) c.4732G>A (p.Val1578Met) c.4177G>A (p.Val1393Met) c.4543G>A (p.Val1515Met) c.4216+13953G>A (n.4216+13953G>A) c.4651G>A (p.Val1551Met) c.4624G>A (p.Val1542Met) c.*65G>A (n.*65G>A) c.3058G>A (p.Val1020Met) n.5042G>A n.4526+13953G>A c.4615G>A (p.Val1539Met) n.5058G>A n.4804G>A n.4542+13953G>A | |
2 | g.227008097_227008099del | CA913190003 | COL4A4 | c.332_334del (p.Ala111del) c.4730_4732del (p.Ala1577del) c.4175_4177del (p.Ala1392del) c.4541_4543del (p.Ala1514del) c.4216+13951_4216+13953del (n.4216+13951_4216+13953del) c.4649_4651del (p.Ala1550del) c.4622_4624del (p.Ala1541del) c.*63_*65del (n.*63_*65del) c.3056_3058del (p.Ala1019del) n.5040_5042del n.4526+13951_4526+13953del c.4613_4615del (p.Ala1538del) n.5056_5058del n.4802_4804del n.4542+13951_4542+13953del | ClinVar dbSNP |
2 | g.227008096C>A | CA431672104 | COL4A4 | c.333G>T (p.Ala111=) c.4731G>T (p.Ala1577=) c.4176G>T (p.Ala1392=) c.4542G>T (p.Ala1514=) c.4216+13952G>T (n.4216+13952G>T) c.4650G>T (p.Ala1550=) c.4623G>T (p.Ala1541=) c.*64G>T (n.*64G>T) c.3057G>T (p.Ala1019=) n.5041G>T n.4526+13952G>T c.4614G>T (p.Ala1538=) n.5057G>T n.4803G>T n.4542+13952G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008096C= | CA1332723901 | COL4A4 | c.333G= (p.Ala111=) c.4731G= (p.Ala1577=) c.4176G= (p.Ala1392=) c.4542G= (p.Ala1514=) c.4216+13952G= (n.4216+13952G=) c.4650G= (p.Ala1550=) c.4623G= (p.Ala1541=) c.*64G= (n.*64G=) c.3057G= (p.Ala1019=) n.5041G= n.4526+13952G= c.4614G= (p.Ala1538=) n.5057G= n.4803G= n.4542+13952G= | |
2 | g.227008096C>G | CA431672105 | COL4A4 | c.333G>C (p.Ala111=) c.4731G>C (p.Ala1577=) c.4176G>C (p.Ala1392=) c.4542G>C (p.Ala1514=) c.4216+13952G>C (n.4216+13952G>C) c.4650G>C (p.Ala1550=) c.4623G>C (p.Ala1541=) c.*64G>C (n.*64G>C) c.3057G>C (p.Ala1019=) n.5041G>C n.4526+13952G>C c.4614G>C (p.Ala1538=) n.5057G>C n.4803G>C n.4542+13952G>C | |
2 | g.227008096C>T | CA2144081 | COL4A4 | c.333G>A (p.Ala111=) c.4731G>A (p.Ala1577=) c.4176G>A (p.Ala1392=) c.4542G>A (p.Ala1514=) c.4216+13952G>A (n.4216+13952G>A) c.4650G>A (p.Ala1550=) c.4623G>A (p.Ala1541=) c.*64G>A (n.*64G>A) c.3057G>A (p.Ala1019=) n.5041G>A n.4526+13952G>A c.4614G>A (p.Ala1538=) n.5057G>A n.4803G>A n.4542+13952G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008097G>A | CA2144082 | COL4A4 | c.332C>T (p.Ala111Val) c.4730C>T (p.Ala1577Val) c.4175C>T (p.Ala1392Val) c.4541C>T (p.Ala1514Val) c.4216+13951C>T (n.4216+13951C>T) c.4649C>T (p.Ala1550Val) c.4622C>T (p.Ala1541Val) c.*63C>T (n.*63C>T) c.3056C>T (p.Ala1019Val) n.5040C>T n.4526+13951C>T c.4613C>T (p.Ala1538Val) n.5056C>T n.4802C>T n.4542+13951C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008097G>C | CA351140604 | COL4A4 | c.332C>G (p.Ala111Gly) c.4730C>G (p.Ala1577Gly) c.4175C>G (p.Ala1392Gly) c.4541C>G (p.Ala1514Gly) c.4216+13951C>G (n.4216+13951C>G) c.4649C>G (p.Ala1550Gly) c.4622C>G (p.Ala1541Gly) c.*63C>G (n.*63C>G) c.3056C>G (p.Ala1019Gly) n.5040C>G n.4526+13951C>G c.4613C>G (p.Ala1538Gly) n.5056C>G n.4802C>G n.4542+13951C>G | |
2 | g.227008097G= | CA1332723902 | COL4A4 | c.332C= (p.Ala111=) c.4730C= (p.Ala1577=) c.4175C= (p.Ala1392=) c.4541C= (p.Ala1514=) c.4216+13951C= (n.4216+13951C=) c.4649C= (p.Ala1550=) c.4622C= (p.Ala1541=) c.*63C= (n.*63C=) c.3056C= (p.Ala1019=) n.5040C= n.4526+13951C= c.4613C= (p.Ala1538=) n.5056C= n.4802C= n.4542+13951C= | |
2 | g.227008097G>T | CA351140605 | COL4A4 | c.332C>A (p.Ala111Glu) c.4730C>A (p.Ala1577Glu) c.4175C>A (p.Ala1392Glu) c.4541C>A (p.Ala1514Glu) c.4216+13951C>A (n.4216+13951C>A) c.4649C>A (p.Ala1550Glu) c.4622C>A (p.Ala1541Glu) c.*63C>A (n.*63C>A) c.3056C>A (p.Ala1019Glu) n.5040C>A n.4526+13951C>A c.4613C>A (p.Ala1538Glu) n.5056C>A n.4802C>A n.4542+13951C>A | |
2 | g.227008098C>A | CA351140606 | COL4A4 | c.331G>T (p.Ala111Ser) c.4729G>T (p.Ala1577Ser) c.4174G>T (p.Ala1392Ser) c.4540G>T (p.Ala1514Ser) c.4216+13950G>T (n.4216+13950G>T) c.4648G>T (p.Ala1550Ser) c.4621G>T (p.Ala1541Ser) c.*62G>T (n.*62G>T) c.3055G>T (p.Ala1019Ser) n.5039G>T n.4526+13950G>T c.4612G>T (p.Ala1538Ser) n.5055G>T n.4801G>T n.4542+13950G>T | |
2 | g.227008098C>G | CA351140607 | COL4A4 | c.331G>C (p.Ala111Pro) c.4729G>C (p.Ala1577Pro) c.4174G>C (p.Ala1392Pro) c.4540G>C (p.Ala1514Pro) c.4216+13950G>C (n.4216+13950G>C) c.4648G>C (p.Ala1550Pro) c.4621G>C (p.Ala1541Pro) c.*62G>C (n.*62G>C) c.3055G>C (p.Ala1019Pro) n.5039G>C n.4526+13950G>C c.4612G>C (p.Ala1538Pro) n.5055G>C n.4801G>C n.4542+13950G>C | |
2 | g.227008098C>T | CA351140608 | COL4A4 | c.331G>A (p.Ala111Thr) c.4729G>A (p.Ala1577Thr) c.4174G>A (p.Ala1392Thr) c.4540G>A (p.Ala1514Thr) c.4216+13950G>A (n.4216+13950G>A) c.4648G>A (p.Ala1550Thr) c.4621G>A (p.Ala1541Thr) c.*62G>A (n.*62G>A) c.3055G>A (p.Ala1019Thr) n.5039G>A n.4526+13950G>A c.4612G>A (p.Ala1538Thr) n.5055G>A n.4801G>A n.4542+13950G>A | |
2 | g.227008099C>A | CA431672106 | COL4A4 | c.330G>T (p.Val110=) c.4728G>T (p.Val1576=) c.4173G>T (p.Val1391=) c.4539G>T (p.Val1513=) c.4216+13949G>T (n.4216+13949G>T) c.4647G>T (p.Val1549=) c.4620G>T (p.Val1540=) c.*61G>T (n.*61G>T) c.3054G>T (p.Val1018=) n.5038G>T n.4526+13949G>T c.4611G>T (p.Val1537=) n.5054G>T n.4800G>T n.4542+13949G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008099C= | CA1332723903 | COL4A4 | c.330G= (p.Val110=) c.4728G= (p.Val1576=) c.4173G= (p.Val1391=) c.4539G= (p.Val1513=) c.4216+13949G= (n.4216+13949G=) c.4647G= (p.Val1549=) c.4620G= (p.Val1540=) c.*61G= (n.*61G=) c.3054G= (p.Val1018=) n.5038G= n.4526+13949G= c.4611G= (p.Val1537=) n.5054G= n.4800G= n.4542+13949G= | |
2 | g.227008099C>G | CA431672107 | COL4A4 | c.330G>C (p.Val110=) c.4728G>C (p.Val1576=) c.4173G>C (p.Val1391=) c.4539G>C (p.Val1513=) c.4216+13949G>C (n.4216+13949G>C) c.4647G>C (p.Val1549=) c.4620G>C (p.Val1540=) c.*61G>C (n.*61G>C) c.3054G>C (p.Val1018=) n.5038G>C n.4526+13949G>C c.4611G>C (p.Val1537=) n.5054G>C n.4800G>C n.4542+13949G>C | |
2 | g.227008099C>T | CA431672108 | COL4A4 | c.330G>A (p.Val110=) c.4728G>A (p.Val1576=) c.4173G>A (p.Val1391=) c.4539G>A (p.Val1513=) c.4216+13949G>A (n.4216+13949G>A) c.4647G>A (p.Val1549=) c.4620G>A (p.Val1540=) c.*61G>A (n.*61G>A) c.3054G>A (p.Val1018=) n.5038G>A n.4526+13949G>A c.4611G>A (p.Val1537=) n.5054G>A n.4800G>A n.4542+13949G>A | |
2 | g.227008100A= | CA1332723904 | COL4A4 | c.329T= (p.Val110=) c.4727T= (p.Val1576=) c.4172T= (p.Val1391=) c.4538T= (p.Val1513=) c.4216+13948T= (n.4216+13948T=) c.4646T= (p.Val1549=) c.4619T= (p.Val1540=) c.*60T= (n.*60T=) c.3053T= (p.Val1018=) n.5037T= n.4526+13948T= c.4610T= (p.Val1537=) n.5053T= n.4799T= n.4542+13948T= | |
2 | g.227008100A>C | CA351140609 | COL4A4 | c.329T>G (p.Val110Gly) c.4727T>G (p.Val1576Gly) c.4172T>G (p.Val1391Gly) c.4538T>G (p.Val1513Gly) c.4216+13948T>G (n.4216+13948T>G) c.4646T>G (p.Val1549Gly) c.4619T>G (p.Val1540Gly) c.*60T>G (n.*60T>G) c.3053T>G (p.Val1018Gly) n.5037T>G n.4526+13948T>G c.4610T>G (p.Val1537Gly) n.5053T>G n.4799T>G n.4542+13948T>G | dbSNP |
2 | g.227008100A>G | CA67238295 | COL4A4 | c.329T>C (p.Val110Ala) c.4727T>C (p.Val1576Ala) c.4172T>C (p.Val1391Ala) c.4538T>C (p.Val1513Ala) c.4216+13948T>C (n.4216+13948T>C) c.4646T>C (p.Val1549Ala) c.4619T>C (p.Val1540Ala) c.*60T>C (n.*60T>C) c.3053T>C (p.Val1018Ala) n.5037T>C n.4526+13948T>C c.4610T>C (p.Val1537Ala) n.5053T>C n.4799T>C n.4542+13948T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.227008100A>T | CA351140610 | COL4A4 | c.329T>A (p.Val110Glu) c.4727T>A (p.Val1576Glu) c.4172T>A (p.Val1391Glu) c.4538T>A (p.Val1513Glu) c.4216+13948T>A (n.4216+13948T>A) c.4646T>A (p.Val1549Glu) c.4619T>A (p.Val1540Glu) c.*60T>A (n.*60T>A) c.3053T>A (p.Val1018Glu) n.5037T>A n.4526+13948T>A c.4610T>A (p.Val1537Glu) n.5053T>A n.4799T>A n.4542+13948T>A | |
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.227008101C>A | CA351140613 | COL4A4 | c.328G>T (p.Val110Leu) c.4726G>T (p.Val1576Leu) c.4171G>T (p.Val1391Leu) c.4537G>T (p.Val1513Leu) c.4216+13947G>T (n.4216+13947G>T) c.4645G>T (p.Val1549Leu) c.4618G>T (p.Val1540Leu) c.*59G>T (n.*59G>T) c.3052G>T (p.Val1018Leu) n.5036G>T n.4526+13947G>T c.4609G>T (p.Val1537Leu) n.5052G>T n.4798G>T n.4542+13947G>T | |
2 | g.227008101C>G | CA351140612 | COL4A4 | c.328G>C (p.Val110Leu) c.4726G>C (p.Val1576Leu) c.4171G>C (p.Val1391Leu) c.4537G>C (p.Val1513Leu) c.4216+13947G>C (n.4216+13947G>C) c.4645G>C (p.Val1549Leu) c.4618G>C (p.Val1540Leu) c.*59G>C (n.*59G>C) c.3052G>C (p.Val1018Leu) n.5036G>C n.4526+13947G>C c.4609G>C (p.Val1537Leu) n.5052G>C n.4798G>C n.4542+13947G>C | |
2 | g.227008101C>T | CA351140611 | COL4A4 | c.328G>A (p.Val110Met) c.4726G>A (p.Val1576Met) c.4171G>A (p.Val1391Met) c.4537G>A (p.Val1513Met) c.4216+13947G>A (n.4216+13947G>A) c.4645G>A (p.Val1549Met) c.4618G>A (p.Val1540Met) c.*59G>A (n.*59G>A) c.3052G>A (p.Val1018Met) n.5036G>A n.4526+13947G>A c.4609G>A (p.Val1537Met) n.5052G>A n.4798G>A n.4542+13947G>A | |
2 | g.227008102C>A | CA431672109 | COL4A4 | c.327G>T (p.Ala109=) c.4725G>T (p.Ala1575=) c.4170G>T (p.Ala1390=) c.4536G>T (p.Ala1512=) c.4216+13946G>T (n.4216+13946G>T) c.4644G>T (p.Ala1548=) c.4617G>T (p.Ala1539=) c.*58G>T (n.*58G>T) c.3051G>T (p.Ala1017=) n.5035G>T n.4526+13946G>T c.4608G>T (p.Ala1536=) n.5051G>T n.4797G>T n.4542+13946G>T | |
2 | g.227008102C= | CA1332723905 | COL4A4 | c.327G= (p.Ala109=) c.4725G= (p.Ala1575=) c.4170G= (p.Ala1390=) c.4536G= (p.Ala1512=) c.4216+13946G= (n.4216+13946G=) c.4644G= (p.Ala1548=) c.4617G= (p.Ala1539=) c.*58G= (n.*58G=) c.3051G= (p.Ala1017=) n.5035G= n.4526+13946G= c.4608G= (p.Ala1536=) n.5051G= n.4797G= n.4542+13946G= | |
2 | g.227008102C>G | CA431672110 | COL4A4 | c.327G>C (p.Ala109=) c.4725G>C (p.Ala1575=) c.4170G>C (p.Ala1390=) c.4536G>C (p.Ala1512=) c.4216+13946G>C (n.4216+13946G>C) c.4644G>C (p.Ala1548=) c.4617G>C (p.Ala1539=) c.*58G>C (n.*58G>C) c.3051G>C (p.Ala1017=) n.5035G>C n.4526+13946G>C c.4608G>C (p.Ala1536=) n.5051G>C n.4797G>C n.4542+13946G>C | ClinVar |
2 | g.227008102C>T | CA10612646 | COL4A4 | c.327G>A (p.Ala109=) c.4725G>A (p.Ala1575=) c.4170G>A (p.Ala1390=) c.4536G>A (p.Ala1512=) c.4216+13946G>A (n.4216+13946G>A) c.4644G>A (p.Ala1548=) c.4617G>A (p.Ala1539=) c.*58G>A (n.*58G>A) c.3051G>A (p.Ala1017=) n.5035G>A n.4526+13946G>A c.4608G>A (p.Ala1536=) n.5051G>A n.4797G>A n.4542+13946G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008103G>A | CA2144084 | COL4A4 | c.326C>T (p.Ala109Val) c.4724C>T (p.Ala1575Val) c.4169C>T (p.Ala1390Val) c.4535C>T (p.Ala1512Val) c.4216+13945C>T (n.4216+13945C>T) c.4643C>T (p.Ala1548Val) c.4616C>T (p.Ala1539Val) c.*57C>T (n.*57C>T) c.3050C>T (p.Ala1017Val) n.5034C>T n.4526+13945C>T c.4607C>T (p.Ala1536Val) n.5050C>T n.4796C>T n.4542+13945C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227008103G>C | CA351140614 | COL4A4 | c.326C>G (p.Ala109Gly) c.4724C>G (p.Ala1575Gly) c.4169C>G (p.Ala1390Gly) c.4535C>G (p.Ala1512Gly) c.4216+13945C>G (n.4216+13945C>G) c.4643C>G (p.Ala1548Gly) c.4616C>G (p.Ala1539Gly) c.*57C>G (n.*57C>G) c.3050C>G (p.Ala1017Gly) n.5034C>G n.4526+13945C>G c.4607C>G (p.Ala1536Gly) n.5050C>G n.4796C>G n.4542+13945C>G | |
2 | g.227008103G= | CA1332723906 | COL4A4 | c.326C= (p.Ala109=) c.4724C= (p.Ala1575=) c.4169C= (p.Ala1390=) c.4535C= (p.Ala1512=) c.4216+13945C= (n.4216+13945C=) c.4643C= (p.Ala1548=) c.4616C= (p.Ala1539=) c.*57C= (n.*57C=) c.3050C= (p.Ala1017=) n.5034C= n.4526+13945C= c.4607C= (p.Ala1536=) n.5050C= n.4796C= n.4542+13945C= | |
2 | g.227008103G>T | CA2144085 | COL4A4 | c.326C>A (p.Ala109Glu) c.4724C>A (p.Ala1575Glu) c.4169C>A (p.Ala1390Glu) c.4535C>A (p.Ala1512Glu) c.4216+13945C>A (n.4216+13945C>A) c.4643C>A (p.Ala1548Glu) c.4616C>A (p.Ala1539Glu) c.*57C>A (n.*57C>A) c.3050C>A (p.Ala1017Glu) n.5034C>A n.4526+13945C>A c.4607C>A (p.Ala1536Glu) n.5050C>A n.4796C>A n.4542+13945C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.227008104C>A | CA351140615 | COL4A4 | c.325G>T (p.Ala109Ser) c.4723G>T (p.Ala1575Ser) c.4168G>T (p.Ala1390Ser) c.4534G>T (p.Ala1512Ser) c.4216+13944G>T (n.4216+13944G>T) c.4642G>T (p.Ala1548Ser) c.4615G>T (p.Ala1539Ser) c.*56G>T (n.*56G>T) c.3049G>T (p.Ala1017Ser) n.5033G>T n.4526+13944G>T c.4606G>T (p.Ala1536Ser) n.5049G>T n.4795G>T n.4542+13944G>T | |
2 | g.227008104C>G | CA351140616 | COL4A4 | c.325G>C (p.Ala109Pro) c.4723G>C (p.Ala1575Pro) c.4168G>C (p.Ala1390Pro) c.4534G>C (p.Ala1512Pro) c.4216+13944G>C (n.4216+13944G>C) c.4642G>C (p.Ala1548Pro) c.4615G>C (p.Ala1539Pro) c.*56G>C (n.*56G>C) c.3049G>C (p.Ala1017Pro) n.5033G>C n.4526+13944G>C c.4606G>C (p.Ala1536Pro) n.5049G>C n.4795G>C n.4542+13944G>C | |
2 | g.227008104C>T | CA351140617 | COL4A4 | c.325G>A (p.Ala109Thr) c.4723G>A (p.Ala1575Thr) c.4168G>A (p.Ala1390Thr) c.4534G>A (p.Ala1512Thr) c.4216+13944G>A (n.4216+13944G>A) c.4642G>A (p.Ala1548Thr) c.4615G>A (p.Ala1539Thr) c.*56G>A (n.*56G>A) c.3049G>A (p.Ala1017Thr) n.5033G>A n.4526+13944G>A c.4606G>A (p.Ala1536Thr) n.5049G>A n.4795G>A n.4542+13944G>A | |
2 | g.227008105C>A | CA351140618 | COL4A4 | c.324G>T (p.Gln108His) c.4722G>T (p.Gln1574His) c.4167G>T (p.Gln1389His) c.4533G>T (p.Gln1511His) c.4216+13943G>T (n.4216+13943G>T) c.4641G>T (p.Gln1547His) c.4614G>T (p.Gln1538His) c.*55G>T (n.*55G>T) c.3048G>T (p.Gln1016His) n.5032G>T n.4526+13943G>T c.4605G>T (p.Gln1535His) n.5048G>T n.4794G>T n.4542+13943G>T | |
2 | g.227008105C>G | CA351140619 | COL4A4 | c.324G>C (p.Gln108His) c.4722G>C (p.Gln1574His) c.4167G>C (p.Gln1389His) c.4533G>C (p.Gln1511His) c.4216+13943G>C (n.4216+13943G>C) c.4641G>C (p.Gln1547His) c.4614G>C (p.Gln1538His) c.*55G>C (n.*55G>C) c.3048G>C (p.Gln1016His) n.5032G>C n.4526+13943G>C c.4605G>C (p.Gln1535His) n.5048G>C n.4794G>C n.4542+13943G>C | |
2 | g.227008105C>T | CA431672117 | COL4A4 | c.324G>A (p.Gln108=) c.4722G>A (p.Gln1574=) c.4167G>A (p.Gln1389=) c.4533G>A (p.Gln1511=) c.4216+13943G>A (n.4216+13943G>A) c.4641G>A (p.Gln1547=) c.4614G>A (p.Gln1538=) c.*55G>A (n.*55G>A) c.3048G>A (p.Gln1016=) n.5032G>A n.4526+13943G>A c.4605G>A (p.Gln1535=) n.5048G>A n.4794G>A n.4542+13943G>A | |
2 | g.227008106T>A | CA351140620 | COL4A4 | c.323A>T (p.Gln108Leu) c.4721A>T (p.Gln1574Leu) c.4166A>T (p.Gln1389Leu) c.4532A>T (p.Gln1511Leu) c.4216+13942A>T (n.4216+13942A>T) c.4640A>T (p.Gln1547Leu) c.4613A>T (p.Gln1538Leu) c.*54A>T (n.*54A>T) c.3047A>T (p.Gln1016Leu) n.5031A>T n.4526+13942A>T c.4604A>T (p.Gln1535Leu) n.5047A>T n.4793A>T n.4542+13942A>T | |
2 | g.227008106T>C | CA351140621 | COL4A4 | c.323A>G (p.Gln108Arg) c.4721A>G (p.Gln1574Arg) c.4166A>G (p.Gln1389Arg) c.4532A>G (p.Gln1511Arg) c.4216+13942A>G (n.4216+13942A>G) c.4640A>G (p.Gln1547Arg) c.4613A>G (p.Gln1538Arg) c.*54A>G (n.*54A>G) c.3047A>G (p.Gln1016Arg) n.5031A>G n.4526+13942A>G c.4604A>G (p.Gln1535Arg) n.5047A>G n.4793A>G n.4542+13942A>G | |
2 | g.227008106T>G | CA351140622 | COL4A4 | c.323A>C (p.Gln108Pro) c.4721A>C (p.Gln1574Pro) c.4166A>C (p.Gln1389Pro) c.4532A>C (p.Gln1511Pro) c.4216+13942A>C (n.4216+13942A>C) c.4640A>C (p.Gln1547Pro) c.4613A>C (p.Gln1538Pro) c.*54A>C (n.*54A>C) c.3047A>C (p.Gln1016Pro) n.5031A>C n.4526+13942A>C c.4604A>C (p.Gln1535Pro) n.5047A>C n.4793A>C n.4542+13942A>C | |
2 | g.227008107G>A | CA351140625 | COL4A4 | c.322C>T (p.Gln108Ter) c.4720C>T (p.Gln1574Ter) c.4165C>T (p.Gln1389Ter) c.4531C>T (p.Gln1511Ter) c.4216+13941C>T (n.4216+13941C>T) c.4639C>T (p.Gln1547Ter) c.4612C>T (p.Gln1538Ter) c.*53C>T (n.*53C>T) c.3046C>T (p.Gln1016Ter) n.5030C>T n.4526+13941C>T c.4603C>T (p.Gln1535Ter) n.5046C>T n.4792C>T n.4542+13941C>T | ClinVar dbSNP |
2 | g.227008107G>C | CA351140624 | COL4A4 | c.322C>G (p.Gln108Glu) c.4720C>G (p.Gln1574Glu) c.4165C>G (p.Gln1389Glu) c.4531C>G (p.Gln1511Glu) c.4216+13941C>G (n.4216+13941C>G) c.4639C>G (p.Gln1547Glu) c.4612C>G (p.Gln1538Glu) c.*53C>G (n.*53C>G) c.3046C>G (p.Gln1016Glu) n.5030C>G n.4526+13941C>G c.4603C>G (p.Gln1535Glu) n.5046C>G n.4792C>G n.4542+13941C>G | |
2 | g.227008107G>T | CA351140623 | COL4A4 | c.322C>A (p.Gln108Lys) c.4720C>A (p.Gln1574Lys) c.4165C>A (p.Gln1389Lys) c.4531C>A (p.Gln1511Lys) c.4216+13941C>A (n.4216+13941C>A) c.4639C>A (p.Gln1547Lys) c.4612C>A (p.Gln1538Lys) c.*53C>A (n.*53C>A) c.3046C>A (p.Gln1016Lys) n.5030C>A n.4526+13941C>A c.4603C>A (p.Gln1535Lys) n.5046C>A n.4792C>A n.4542+13941C>A | ClinVar gnomAD v4 |
2 | g.227008108G>A | CA431672121 | COL4A4 | c.321C>T (p.Ala107=) c.4719C>T (p.Ala1573=) c.4164C>T (p.Ala1388=) c.4530C>T (p.Ala1510=) c.4216+13940C>T (n.4216+13940C>T) c.4638C>T (p.Ala1546=) c.4611C>T (p.Ala1537=) c.*52C>T (n.*52C>T) c.3045C>T (p.Ala1015=) n.5029C>T n.4526+13940C>T c.4602C>T (p.Ala1534=) n.5045C>T n.4791C>T n.4542+13940C>T | gnomAD v4 |
2 | g.227008108G>C | CA431672122 | COL4A4 | c.321C>G (p.Ala107=) c.4719C>G (p.Ala1573=) c.4164C>G (p.Ala1388=) c.4530C>G (p.Ala1510=) c.4216+13940C>G (n.4216+13940C>G) c.4638C>G (p.Ala1546=) c.4611C>G (p.Ala1537=) c.*52C>G (n.*52C>G) c.3045C>G (p.Ala1015=) n.5029C>G n.4526+13940C>G c.4602C>G (p.Ala1534=) n.5045C>G n.4791C>G n.4542+13940C>G | |
2 | g.227008108G>T | CA431672123 | COL4A4 | c.321C>A (p.Ala107=) c.4719C>A (p.Ala1573=) c.4164C>A (p.Ala1388=) c.4530C>A (p.Ala1510=) c.4216+13940C>A (n.4216+13940C>A) c.4638C>A (p.Ala1546=) c.4611C>A (p.Ala1537=) c.*52C>A (n.*52C>A) c.3045C>A (p.Ala1015=) n.5029C>A n.4526+13940C>A c.4602C>A (p.Ala1534=) n.5045C>A n.4791C>A n.4542+13940C>A | ClinVar gnomAD v4 |
2 | g.227008109G>A | CA2144086 | COL4A4 | c.320C>T (p.Ala107Val) c.4718C>T (p.Ala1573Val) c.4163C>T (p.Ala1388Val) c.4529C>T (p.Ala1510Val) c.4216+13939C>T (n.4216+13939C>T) c.4637C>T (p.Ala1546Val) c.4610C>T (p.Ala1537Val) c.*51C>T (n.*51C>T) c.3044C>T (p.Ala1015Val) n.5028C>T n.4526+13939C>T c.4601C>T (p.Ala1534Val) n.5044C>T n.4790C>T n.4542+13939C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008109G>C | CA351140626 | COL4A4 | c.320C>G (p.Ala107Gly) c.4718C>G (p.Ala1573Gly) c.4163C>G (p.Ala1388Gly) c.4529C>G (p.Ala1510Gly) c.4216+13939C>G (n.4216+13939C>G) c.4637C>G (p.Ala1546Gly) c.4610C>G (p.Ala1537Gly) c.*51C>G (n.*51C>G) c.3044C>G (p.Ala1015Gly) n.5028C>G n.4526+13939C>G c.4601C>G (p.Ala1534Gly) n.5044C>G n.4790C>G n.4542+13939C>G | |
2 | g.227008109G= | CA1332723907 | COL4A4 | c.320C= (p.Ala107=) c.4718C= (p.Ala1573=) c.4163C= (p.Ala1388=) c.4529C= (p.Ala1510=) c.4216+13939C= (n.4216+13939C=) c.4637C= (p.Ala1546=) c.4610C= (p.Ala1537=) c.*51C= (n.*51C=) c.3044C= (p.Ala1015=) n.5028C= n.4526+13939C= c.4601C= (p.Ala1534=) n.5044C= n.4790C= n.4542+13939C= | |
2 | g.227008109G>T | CA351140627 | COL4A4 | c.320C>A (p.Ala107Asp) c.4718C>A (p.Ala1573Asp) c.4163C>A (p.Ala1388Asp) c.4529C>A (p.Ala1510Asp) c.4216+13939C>A (n.4216+13939C>A) c.4637C>A (p.Ala1546Asp) c.4610C>A (p.Ala1537Asp) c.*51C>A (n.*51C>A) c.3044C>A (p.Ala1015Asp) n.5028C>A n.4526+13939C>A c.4601C>A (p.Ala1534Asp) n.5044C>A n.4790C>A n.4542+13939C>A | |
2 | g.227008110C>A | CA351140628 | COL4A4 | c.319G>T (p.Ala107Ser) c.4717G>T (p.Ala1573Ser) c.4162G>T (p.Ala1388Ser) c.4528G>T (p.Ala1510Ser) c.4216+13938G>T (n.4216+13938G>T) c.4636G>T (p.Ala1546Ser) c.4609G>T (p.Ala1537Ser) c.*50G>T (n.*50G>T) c.3043G>T (p.Ala1015Ser) n.5027G>T n.4526+13938G>T c.4600G>T (p.Ala1534Ser) n.5043G>T n.4789G>T n.4542+13938G>T | |
2 | g.227008110C>G | CA351140629 | COL4A4 | c.319G>C (p.Ala107Pro) c.4717G>C (p.Ala1573Pro) c.4162G>C (p.Ala1388Pro) c.4528G>C (p.Ala1510Pro) c.4216+13938G>C (n.4216+13938G>C) c.4636G>C (p.Ala1546Pro) c.4609G>C (p.Ala1537Pro) c.*50G>C (n.*50G>C) c.3043G>C (p.Ala1015Pro) n.5027G>C n.4526+13938G>C c.4600G>C (p.Ala1534Pro) n.5043G>C n.4789G>C n.4542+13938G>C | gnomAD v4 |
2 | g.227008110C>T | CA351140630 | COL4A4 | c.319G>A (p.Ala107Thr) c.4717G>A (p.Ala1573Thr) c.4162G>A (p.Ala1388Thr) c.4528G>A (p.Ala1510Thr) c.4216+13938G>A (n.4216+13938G>A) c.4636G>A (p.Ala1546Thr) c.4609G>A (p.Ala1537Thr) c.*50G>A (n.*50G>A) c.3043G>A (p.Ala1015Thr) n.5027G>A n.4526+13938G>A c.4600G>A (p.Ala1534Thr) n.5043G>A n.4789G>A n.4542+13938G>A | gnomAD v4 |
2 | g.227008111del | CA2499215692 | COL4A4 | c.319del (p.Ala107ProfsTer30) c.4717del (p.Ala1573ProfsTer30) c.4162del (p.Ala1388ProfsTer30) c.4528del (p.Ala1510ProfsTer30) c.4216+13938del (n.4216+13938del) c.4636del (p.Ala1546ProfsTer30) c.4609del (p.Ala1537ProfsTer30) c.*50del (n.*50del) c.3043del (p.Ala1015ProfsTer30) n.5027del n.4526+13938del c.4600del (p.Ala1534ProfsTer30) n.5043del n.4789del n.4542+13938del | ClinVar dbSNP gnomAD v4 |
2 | g.227008111C>A | CA431672127 | COL4A4 | c.318G>T (p.Pro106=) c.4716G>T (p.Pro1572=) c.4161G>T (p.Pro1387=) c.4527G>T (p.Pro1509=) c.4216+13937G>T (n.4216+13937G>T) c.4635G>T (p.Pro1545=) c.4608G>T (p.Pro1536=) c.*49G>T (n.*49G>T) c.3042G>T (p.Pro1014=) n.5026G>T n.4526+13937G>T c.4599G>T (p.Pro1533=) n.5042G>T n.4788G>T n.4542+13937G>T | |
2 | g.227008111C= | CA1332723908 | COL4A4 | c.318G= (p.Pro106=) c.4716G= (p.Pro1572=) c.4161G= (p.Pro1387=) c.4527G= (p.Pro1509=) c.4216+13937G= (n.4216+13937G=) c.4635G= (p.Pro1545=) c.4608G= (p.Pro1536=) c.*49G= (n.*49G=) c.3042G= (p.Pro1014=) n.5026G= n.4526+13937G= c.4599G= (p.Pro1533=) n.5042G= n.4788G= n.4542+13937G= | |
2 | g.227008111C>G | CA431672128 | COL4A4 | c.318G>C (p.Pro106=) c.4716G>C (p.Pro1572=) c.4161G>C (p.Pro1387=) c.4527G>C (p.Pro1509=) c.4216+13937G>C (n.4216+13937G>C) c.4635G>C (p.Pro1545=) c.4608G>C (p.Pro1536=) c.*49G>C (n.*49G>C) c.3042G>C (p.Pro1014=) n.5026G>C n.4526+13937G>C c.4599G>C (p.Pro1533=) n.5042G>C n.4788G>C n.4542+13937G>C | |
2 | g.227008111C>T | CA2144087 | COL4A4 | c.318G>A (p.Pro106=) c.4716G>A (p.Pro1572=) c.4161G>A (p.Pro1387=) c.4527G>A (p.Pro1509=) c.4216+13937G>A (n.4216+13937G>A) c.4635G>A (p.Pro1545=) c.4608G>A (p.Pro1536=) c.*49G>A (n.*49G>A) c.3042G>A (p.Pro1014=) n.5026G>A n.4526+13937G>A c.4599G>A (p.Pro1533=) n.5042G>A n.4788G>A n.4542+13937G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.227008112G>A | CA257925 | COL4A4 | c.317C>T (p.Pro106Leu) c.4715C>T (p.Pro1572Leu) c.4160C>T (p.Pro1387Leu) c.4526C>T (p.Pro1509Leu) c.4216+13936C>T (n.4216+13936C>T) c.4634C>T (p.Pro1545Leu) c.4607C>T (p.Pro1536Leu) c.*48C>T (n.*48C>T) c.3041C>T (p.Pro1014Leu) n.5025C>T n.4526+13936C>T c.4598C>T (p.Pro1533Leu) n.5041C>T n.4787C>T n.4542+13936C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008112G>C | CA351140631 | COL4A4 | c.317C>G (p.Pro106Arg) c.4715C>G (p.Pro1572Arg) c.4160C>G (p.Pro1387Arg) c.4526C>G (p.Pro1509Arg) c.4216+13936C>G (n.4216+13936C>G) c.4634C>G (p.Pro1545Arg) c.4607C>G (p.Pro1536Arg) c.*48C>G (n.*48C>G) c.3041C>G (p.Pro1014Arg) n.5025C>G n.4526+13936C>G c.4598C>G (p.Pro1533Arg) n.5041C>G n.4787C>G n.4542+13936C>G | |
2 | g.227008112G= | CA1332723909 | COL4A4 | c.317C= (p.Pro106=) c.4715C= (p.Pro1572=) c.4160C= (p.Pro1387=) c.4526C= (p.Pro1509=) c.4216+13936C= (n.4216+13936C=) c.4634C= (p.Pro1545=) c.4607C= (p.Pro1536=) c.*48C= (n.*48C=) c.3041C= (p.Pro1014=) n.5025C= n.4526+13936C= c.4598C= (p.Pro1533=) n.5041C= n.4787C= n.4542+13936C= | |
2 | g.227008112G>T | CA351140632 | COL4A4 | c.317C>A (p.Pro106Gln) c.4715C>A (p.Pro1572Gln) c.4160C>A (p.Pro1387Gln) c.4526C>A (p.Pro1509Gln) c.4216+13936C>A (n.4216+13936C>A) c.4634C>A (p.Pro1545Gln) c.4607C>A (p.Pro1536Gln) c.*48C>A (n.*48C>A) c.3041C>A (p.Pro1014Gln) n.5025C>A n.4526+13936C>A c.4598C>A (p.Pro1533Gln) n.5041C>A n.4787C>A n.4542+13936C>A | |
2 | g.227008113G>A | CA67238296 | COL4A4 | c.316C>T (p.Pro106Ser) c.4714C>T (p.Pro1572Ser) c.4159C>T (p.Pro1387Ser) c.4525C>T (p.Pro1509Ser) c.4216+13935C>T (n.4216+13935C>T) c.4633C>T (p.Pro1545Ser) c.4606C>T (p.Pro1536Ser) c.*47C>T (n.*47C>T) c.3040C>T (p.Pro1014Ser) n.5024C>T n.4526+13935C>T c.4597C>T (p.Pro1533Ser) n.5040C>T n.4786C>T n.4542+13935C>T | dbSNP gnomAD v4 |
2 | g.227008113G>C | CA351140633 | COL4A4 | c.316C>G (p.Pro106Ala) c.4714C>G (p.Pro1572Ala) c.4159C>G (p.Pro1387Ala) c.4525C>G (p.Pro1509Ala) c.4216+13935C>G (n.4216+13935C>G) c.4633C>G (p.Pro1545Ala) c.4606C>G (p.Pro1536Ala) c.*47C>G (n.*47C>G) c.3040C>G (p.Pro1014Ala) n.5024C>G n.4526+13935C>G c.4597C>G (p.Pro1533Ala) n.5040C>G n.4786C>G n.4542+13935C>G | |
2 | g.227008113G= | CA1332723910 | COL4A4 | c.316C= (p.Pro106=) c.4714C= (p.Pro1572=) c.4159C= (p.Pro1387=) c.4525C= (p.Pro1509=) c.4216+13935C= (n.4216+13935C=) c.4633C= (p.Pro1545=) c.4606C= (p.Pro1536=) c.*47C= (n.*47C=) c.3040C= (p.Pro1014=) n.5024C= n.4526+13935C= c.4597C= (p.Pro1533=) n.5040C= n.4786C= n.4542+13935C= | |
2 | g.227008113G>T | CA351140634 | COL4A4 | c.316C>A (p.Pro106Thr) c.4714C>A (p.Pro1572Thr) c.4159C>A (p.Pro1387Thr) c.4525C>A (p.Pro1509Thr) c.4216+13935C>A (n.4216+13935C>A) c.4633C>A (p.Pro1545Thr) c.4606C>A (p.Pro1536Thr) c.*47C>A (n.*47C>A) c.3040C>A (p.Pro1014Thr) n.5024C>A n.4526+13935C>A c.4597C>A (p.Pro1533Thr) n.5040C>A n.4786C>A n.4542+13935C>A | |
2 | g.227008113_227008133delinsGGGCCTCGCATACCGCACAGC | CA1332723911 | COL4A4 | c.296_316delinsGCTGTGCGGTATGCGAGGCCC (p.Arg99=) c.4694_4714delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1565=) c.4139_4159delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1380=) c.4505_4525delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1502=) c.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC (n.4216+13915_4216+13935delinsGCTGTGCGGTATGCGAGGCCC) c.4613_4633delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1538=) c.4586_4606delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1529=) c.*27_*47delinsGCTGTGCGGTATGCGAGGCCC (n.*27_*47delinsGCTGTGCGGTATGCGAGGCCC) c.3020_3040delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1007=) n.5004_5024delinsGCTGTGCGGTATGCGAGGCCC n.4526+13915_4526+13935delinsGCTGTGCGGTATGCGAGGCCC c.4577_4597delinsGCTGTGCGGTATGCGAGGCCC (p.Arg1526=) n.5020_5040delinsGCTGTGCGGTATGCGAGGCCC n.4766_4786delinsGCTGTGCGGTATGCGAGGCCC n.4542+13915_4542+13935delinsGCTGTGCGGTATGCGAGGCCC | |
2 | g.227008114G>A | CA431672131 | COL4A4 | c.315C>T (p.Ala105=) c.4713C>T (p.Ala1571=) c.4158C>T (p.Ala1386=) c.4524C>T (p.Ala1508=) c.4216+13934C>T (n.4216+13934C>T) c.4632C>T (p.Ala1544=) c.4605C>T (p.Ala1535=) c.*46C>T (n.*46C>T) c.3039C>T (p.Ala1013=) n.5023C>T n.4526+13934C>T c.4596C>T (p.Ala1532=) n.5039C>T n.4785C>T n.4542+13934C>T | ClinVar dbSNP gnomAD v4 |
2 | g.227008114G>C | CA431672132 | COL4A4 | c.315C>G (p.Ala105=) c.4713C>G (p.Ala1571=) c.4158C>G (p.Ala1386=) c.4524C>G (p.Ala1508=) c.4216+13934C>G (n.4216+13934C>G) c.4632C>G (p.Ala1544=) c.4605C>G (p.Ala1535=) c.*46C>G (n.*46C>G) c.3039C>G (p.Ala1013=) n.5023C>G n.4526+13934C>G c.4596C>G (p.Ala1532=) n.5039C>G n.4785C>G n.4542+13934C>G | ClinVar dbSNP gnomAD v4 |
2 | g.227008114G>T | CA431672134 | COL4A4 | c.315C>A (p.Ala105=) c.4713C>A (p.Ala1571=) c.4158C>A (p.Ala1386=) c.4524C>A (p.Ala1508=) c.4216+13934C>A (n.4216+13934C>A) c.4632C>A (p.Ala1544=) c.4605C>A (p.Ala1535=) c.*46C>A (n.*46C>A) c.3039C>A (p.Ala1013=) n.5023C>A n.4526+13934C>A c.4596C>A (p.Ala1532=) n.5039C>A n.4785C>A n.4542+13934C>A | |
2 | g.227008117_227008136del | CA658796189 | COL4A4 | c.296_315del (p.Arg99ProfsTer?) c.4694_4713del (p.Arg1565ProfsTer?) c.4139_4158del (p.Arg1380ProfsTer?) c.4505_4524del (p.Arg1502ProfsTer?) c.4216+13915_4216+13934del (n.4216+13915_4216+13934del) c.4613_4632del (p.Arg1538ProfsTer?) c.4586_4605del (p.Arg1529ProfsTer?) c.*27_*46del (n.*27_*46del) c.3020_3039del (p.Arg1007ProfsTer?) n.5004_5023del n.4526+13915_4526+13934del c.4577_4596del (p.Arg1526ProfsTer?) n.5020_5039del n.4766_4785del n.4542+13915_4542+13934del | ClinVar dbSNP |
2 | g.227008115G>A | CA351140637 | COL4A4 | c.314C>T (p.Ala105Val) c.4712C>T (p.Ala1571Val) c.4157C>T (p.Ala1386Val) c.4523C>T (p.Ala1508Val) c.4216+13933C>T (n.4216+13933C>T) c.4631C>T (p.Ala1544Val) c.4604C>T (p.Ala1535Val) c.*45C>T (n.*45C>T) c.3038C>T (p.Ala1013Val) n.5022C>T n.4526+13933C>T c.4595C>T (p.Ala1532Val) n.5038C>T n.4784C>T n.4542+13933C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008115G>C | CA351140635 | COL4A4 | c.314C>G (p.Ala105Gly) c.4712C>G (p.Ala1571Gly) c.4157C>G (p.Ala1386Gly) c.4523C>G (p.Ala1508Gly) c.4216+13933C>G (n.4216+13933C>G) c.4631C>G (p.Ala1544Gly) c.4604C>G (p.Ala1535Gly) c.*45C>G (n.*45C>G) c.3038C>G (p.Ala1013Gly) n.5022C>G n.4526+13933C>G c.4595C>G (p.Ala1532Gly) n.5038C>G n.4784C>G n.4542+13933C>G | |
2 | g.227008115G= | CA1332723912 | COL4A4 | c.314C= (p.Ala105=) c.4712C= (p.Ala1571=) c.4157C= (p.Ala1386=) c.4523C= (p.Ala1508=) c.4216+13933C= (n.4216+13933C=) c.4631C= (p.Ala1544=) c.4604C= (p.Ala1535=) c.*45C= (n.*45C=) c.3038C= (p.Ala1013=) n.5022C= n.4526+13933C= c.4595C= (p.Ala1532=) n.5038C= n.4784C= n.4542+13933C= | |
2 | g.227008115G>T | CA351140636 | COL4A4 | c.314C>A (p.Ala105Asp) c.4712C>A (p.Ala1571Asp) c.4157C>A (p.Ala1386Asp) c.4523C>A (p.Ala1508Asp) c.4216+13933C>A (n.4216+13933C>A) c.4631C>A (p.Ala1544Asp) c.4604C>A (p.Ala1535Asp) c.*45C>A (n.*45C>A) c.3038C>A (p.Ala1013Asp) n.5022C>A n.4526+13933C>A c.4595C>A (p.Ala1532Asp) n.5038C>A n.4784C>A n.4542+13933C>A | dbSNP |
2 | g.227008116C>A | CA351140638 | COL4A4 | c.313G>T (p.Ala105Ser) c.4711G>T (p.Ala1571Ser) c.4156G>T (p.Ala1386Ser) c.4522G>T (p.Ala1508Ser) c.4216+13932G>T (n.4216+13932G>T) c.4630G>T (p.Ala1544Ser) c.4603G>T (p.Ala1535Ser) c.*44G>T (n.*44G>T) c.3037G>T (p.Ala1013Ser) n.5021G>T n.4526+13932G>T c.4594G>T (p.Ala1532Ser) n.5037G>T n.4783G>T n.4542+13932G>T | |
2 | g.227008116C>G | CA351140639 | COL4A4 | c.313G>C (p.Ala105Pro) c.4711G>C (p.Ala1571Pro) c.4156G>C (p.Ala1386Pro) c.4522G>C (p.Ala1508Pro) c.4216+13932G>C (n.4216+13932G>C) c.4630G>C (p.Ala1544Pro) c.4603G>C (p.Ala1535Pro) c.*44G>C (n.*44G>C) c.3037G>C (p.Ala1013Pro) n.5021G>C n.4526+13932G>C c.4594G>C (p.Ala1532Pro) n.5037G>C n.4783G>C n.4542+13932G>C | |
2 | g.227008116C>T | CA351140640 | COL4A4 | c.313G>A (p.Ala105Thr) c.4711G>A (p.Ala1571Thr) c.4156G>A (p.Ala1386Thr) c.4522G>A (p.Ala1508Thr) c.4216+13932G>A (n.4216+13932G>A) c.4630G>A (p.Ala1544Thr) c.4603G>A (p.Ala1535Thr) c.*44G>A (n.*44G>A) c.3037G>A (p.Ala1013Thr) n.5021G>A n.4526+13932G>A c.4594G>A (p.Ala1532Thr) n.5037G>A n.4783G>A n.4542+13932G>A | |
2 | g.227008117C>A | CA351140641 | COL4A4 | c.312G>T (p.Glu104Asp) c.4710G>T (p.Glu1570Asp) c.4155G>T (p.Glu1385Asp) c.4521G>T (p.Glu1507Asp) c.4216+13931G>T (n.4216+13931G>T) c.4629G>T (p.Glu1543Asp) c.4602G>T (p.Glu1534Asp) c.*43G>T (n.*43G>T) c.3036G>T (p.Glu1012Asp) n.5020G>T n.4526+13931G>T c.4593G>T (p.Glu1531Asp) n.5036G>T n.4782G>T n.4542+13931G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008117C= | CA1332723913 | COL4A4 | c.312G= (p.Glu104=) c.4710G= (p.Glu1570=) c.4155G= (p.Glu1385=) c.4521G= (p.Glu1507=) c.4216+13931G= (n.4216+13931G=) c.4629G= (p.Glu1543=) c.4602G= (p.Glu1534=) c.*43G= (n.*43G=) c.3036G= (p.Glu1012=) n.5020G= n.4526+13931G= c.4593G= (p.Glu1531=) n.5036G= n.4782G= n.4542+13931G= | |
2 | g.227008117C>G | CA351140642 | COL4A4 | c.312G>C (p.Glu104Asp) c.4710G>C (p.Glu1570Asp) c.4155G>C (p.Glu1385Asp) c.4521G>C (p.Glu1507Asp) c.4216+13931G>C (n.4216+13931G>C) c.4629G>C (p.Glu1543Asp) c.4602G>C (p.Glu1534Asp) c.*43G>C (n.*43G>C) c.3036G>C (p.Glu1012Asp) n.5020G>C n.4526+13931G>C c.4593G>C (p.Glu1531Asp) n.5036G>C n.4782G>C n.4542+13931G>C | |
2 | g.227008117C>T | CA431672136 | COL4A4 | c.312G>A (p.Glu104=) c.4710G>A (p.Glu1570=) c.4155G>A (p.Glu1385=) c.4521G>A (p.Glu1507=) c.4216+13931G>A (n.4216+13931G>A) c.4629G>A (p.Glu1543=) c.4602G>A (p.Glu1534=) c.*43G>A (n.*43G>A) c.3036G>A (p.Glu1012=) n.5020G>A n.4526+13931G>A c.4593G>A (p.Glu1531=) n.5036G>A n.4782G>A n.4542+13931G>A | gnomAD v4 |
2 | g.227008118T>A | CA351140643 | COL4A4 | c.311A>T (p.Glu104Val) c.4709A>T (p.Glu1570Val) c.4154A>T (p.Glu1385Val) c.4520A>T (p.Glu1507Val) c.4216+13930A>T (n.4216+13930A>T) c.4628A>T (p.Glu1543Val) c.4601A>T (p.Glu1534Val) c.*42A>T (n.*42A>T) c.3035A>T (p.Glu1012Val) n.5019A>T n.4526+13930A>T c.4592A>T (p.Glu1531Val) n.5035A>T n.4781A>T n.4542+13930A>T | |
2 | g.227008118T>C | CA351140644 | COL4A4 | c.311A>G (p.Glu104Gly) c.4709A>G (p.Glu1570Gly) c.4154A>G (p.Glu1385Gly) c.4520A>G (p.Glu1507Gly) c.4216+13930A>G (n.4216+13930A>G) c.4628A>G (p.Glu1543Gly) c.4601A>G (p.Glu1534Gly) c.*42A>G (n.*42A>G) c.3035A>G (p.Glu1012Gly) n.5019A>G n.4526+13930A>G c.4592A>G (p.Glu1531Gly) n.5035A>G n.4781A>G n.4542+13930A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008118T>G | CA351140645 | COL4A4 | c.311A>C (p.Glu104Ala) c.4709A>C (p.Glu1570Ala) c.4154A>C (p.Glu1385Ala) c.4520A>C (p.Glu1507Ala) c.4216+13930A>C (n.4216+13930A>C) c.4628A>C (p.Glu1543Ala) c.4601A>C (p.Glu1534Ala) c.*42A>C (n.*42A>C) c.3035A>C (p.Glu1012Ala) n.5019A>C n.4526+13930A>C c.4592A>C (p.Glu1531Ala) n.5035A>C n.4781A>C n.4542+13930A>C | |
2 | g.227008118T= | CA1332723914 | COL4A4 | c.311A= (p.Glu104=) c.4709A= (p.Glu1570=) c.4154A= (p.Glu1385=) c.4520A= (p.Glu1507=) c.4216+13930A= (n.4216+13930A=) c.4628A= (p.Glu1543=) c.4601A= (p.Glu1534=) c.*42A= (n.*42A=) c.3035A= (p.Glu1012=) n.5019A= n.4526+13930A= c.4592A= (p.Glu1531=) n.5035A= n.4781A= n.4542+13930A= | |
2 | g.227008119C>A | CA351140646 | COL4A4 | c.310G>T (p.Glu104Ter) c.4708G>T (p.Glu1570Ter) c.4153G>T (p.Glu1385Ter) c.4519G>T (p.Glu1507Ter) c.4216+13929G>T (n.4216+13929G>T) c.4627G>T (p.Glu1543Ter) c.4600G>T (p.Glu1534Ter) c.*41G>T (n.*41G>T) c.3034G>T (p.Glu1012Ter) n.5018G>T n.4526+13929G>T c.4591G>T (p.Glu1531Ter) n.5034G>T n.4780G>T n.4542+13929G>T | |
2 | g.227008119C= | CA1332723915 | COL4A4 | c.310G= (p.Glu104=) c.4708G= (p.Glu1570=) c.4153G= (p.Glu1385=) c.4519G= (p.Glu1507=) c.4216+13929G= (n.4216+13929G=) c.4627G= (p.Glu1543=) c.4600G= (p.Glu1534=) c.*41G= (n.*41G=) c.3034G= (p.Glu1012=) n.5018G= n.4526+13929G= c.4591G= (p.Glu1531=) n.5034G= n.4780G= n.4542+13929G= | |
2 | g.227008119C>G | CA67238297 | COL4A4 | c.310G>C (p.Glu104Gln) c.4708G>C (p.Glu1570Gln) c.4153G>C (p.Glu1385Gln) c.4519G>C (p.Glu1507Gln) c.4216+13929G>C (n.4216+13929G>C) c.4627G>C (p.Glu1543Gln) c.4600G>C (p.Glu1534Gln) c.*41G>C (n.*41G>C) c.3034G>C (p.Glu1012Gln) n.5018G>C n.4526+13929G>C c.4591G>C (p.Glu1531Gln) n.5034G>C n.4780G>C n.4542+13929G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.227008119C>T | CA2144088 | COL4A4 | c.310G>A (p.Glu104Lys) c.4708G>A (p.Glu1570Lys) c.4153G>A (p.Glu1385Lys) c.4519G>A (p.Glu1507Lys) c.4216+13929G>A (n.4216+13929G>A) c.4627G>A (p.Glu1543Lys) c.4600G>A (p.Glu1534Lys) c.*41G>A (n.*41G>A) c.3034G>A (p.Glu1012Lys) n.5018G>A n.4526+13929G>A c.4591G>A (p.Glu1531Lys) n.5034G>A n.4780G>A n.4542+13929G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008123_227008129dup | CA2577263044 | COL4A4 | c.304_310dup (p.Glu104GlyfsTer?) c.4702_4708dup (p.Glu1570GlyfsTer?) c.4147_4153dup (p.Glu1385GlyfsTer?) c.4513_4519dup (p.Glu1507GlyfsTer?) c.4216+13923_4216+13929dup (n.4216+13923_4216+13929dup) c.4621_4627dup (p.Glu1543GlyfsTer?) c.4594_4600dup (p.Glu1534GlyfsTer?) c.*35_*41dup (n.*35_*41dup) c.3028_3034dup (p.Glu1012GlyfsTer?) n.5012_5018dup n.4526+13923_4526+13929dup c.4585_4591dup (p.Glu1531GlyfsTer?) n.5028_5034dup n.4774_4780dup n.4542+13923_4542+13929dup | |
2 | g.227008120G>A | CA2144089 | COL4A4 | c.309C>T (p.Cys103=) c.4707C>T (p.Cys1569=) c.4152C>T (p.Cys1384=) c.4518C>T (p.Cys1506=) c.4216+13928C>T (n.4216+13928C>T) c.4626C>T (p.Cys1542=) c.4599C>T (p.Cys1533=) c.*40C>T (n.*40C>T) c.3033C>T (p.Cys1011=) n.5017C>T n.4526+13928C>T c.4590C>T (p.Cys1530=) n.5033C>T n.4779C>T n.4542+13928C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.227008120G>C | CA351140648 | COL4A4 | c.309C>G (p.Cys103Trp) c.4707C>G (p.Cys1569Trp) c.4152C>G (p.Cys1384Trp) c.4518C>G (p.Cys1506Trp) c.4216+13928C>G (n.4216+13928C>G) c.4626C>G (p.Cys1542Trp) c.4599C>G (p.Cys1533Trp) c.*40C>G (n.*40C>G) c.3033C>G (p.Cys1011Trp) n.5017C>G n.4526+13928C>G c.4590C>G (p.Cys1530Trp) n.5033C>G n.4779C>G n.4542+13928C>G | |
2 | g.227008120G= | CA1332723916 | COL4A4 | c.309C= (p.Cys103=) c.4707C= (p.Cys1569=) c.4152C= (p.Cys1384=) c.4518C= (p.Cys1506=) c.4216+13928C= (n.4216+13928C=) c.4626C= (p.Cys1542=) c.4599C= (p.Cys1533=) c.*40C= (n.*40C=) c.3033C= (p.Cys1011=) n.5017C= n.4526+13928C= c.4590C= (p.Cys1530=) n.5033C= n.4779C= n.4542+13928C= | |
2 | g.227008120G>T | CA351140647 | COL4A4 | c.309C>A (p.Cys103Ter) c.4707C>A (p.Cys1569Ter) c.4152C>A (p.Cys1384Ter) c.4518C>A (p.Cys1506Ter) c.4216+13928C>A (n.4216+13928C>A) c.4626C>A (p.Cys1542Ter) c.4599C>A (p.Cys1533Ter) c.*40C>A (n.*40C>A) c.3033C>A (p.Cys1011Ter) n.5017C>A n.4526+13928C>A c.4590C>A (p.Cys1530Ter) n.5033C>A n.4779C>A n.4542+13928C>A | |
2 | g.227008121C>A | CA2144090 | COL4A4 | c.308G>T (p.Cys103Phe) c.4706G>T (p.Cys1569Phe) c.4151G>T (p.Cys1384Phe) c.4517G>T (p.Cys1506Phe) c.4216+13927G>T (n.4216+13927G>T) c.4625G>T (p.Cys1542Phe) c.4598G>T (p.Cys1533Phe) c.*39G>T (n.*39G>T) c.3032G>T (p.Cys1011Phe) n.5016G>T n.4526+13927G>T c.4589G>T (p.Cys1530Phe) n.5032G>T n.4778G>T n.4542+13927G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.227008121C= | CA1332723917 | COL4A4 | c.308G= (p.Cys103=) c.4706G= (p.Cys1569=) c.4151G= (p.Cys1384=) c.4517G= (p.Cys1506=) c.4216+13927G= (n.4216+13927G=) c.4625G= (p.Cys1542=) c.4598G= (p.Cys1533=) c.*39G= (n.*39G=) c.3032G= (p.Cys1011=) n.5016G= n.4526+13927G= c.4589G= (p.Cys1530=) n.5032G= n.4778G= n.4542+13927G= | |
2 | g.227008121C>G | CA351140650 | COL4A4 | c.308G>C (p.Cys103Ser) c.4706G>C (p.Cys1569Ser) c.4151G>C (p.Cys1384Ser) c.4517G>C (p.Cys1506Ser) c.4216+13927G>C (n.4216+13927G>C) c.4625G>C (p.Cys1542Ser) c.4598G>C (p.Cys1533Ser) c.*39G>C (n.*39G>C) c.3032G>C (p.Cys1011Ser) n.5016G>C n.4526+13927G>C c.4589G>C (p.Cys1530Ser) n.5032G>C n.4778G>C n.4542+13927G>C | |
2 | g.227008121C>T | CA351140649 | COL4A4 | c.308G>A (p.Cys103Tyr) c.4706G>A (p.Cys1569Tyr) c.4151G>A (p.Cys1384Tyr) c.4517G>A (p.Cys1506Tyr) c.4216+13927G>A (n.4216+13927G>A) c.4625G>A (p.Cys1542Tyr) c.4598G>A (p.Cys1533Tyr) c.*39G>A (n.*39G>A) c.3032G>A (p.Cys1011Tyr) n.5016G>A n.4526+13927G>A c.4589G>A (p.Cys1530Tyr) n.5032G>A n.4778G>A n.4542+13927G>A | |
2 | g.227008122A>C | CA351140651 | COL4A4 | c.307T>G (p.Cys103Gly) c.4705T>G (p.Cys1569Gly) c.4150T>G (p.Cys1384Gly) c.4516T>G (p.Cys1506Gly) c.4216+13926T>G (n.4216+13926T>G) c.4624T>G (p.Cys1542Gly) c.4597T>G (p.Cys1533Gly) c.*38T>G (n.*38T>G) c.3031T>G (p.Cys1011Gly) n.5015T>G n.4526+13926T>G c.4588T>G (p.Cys1530Gly) n.5031T>G n.4777T>G n.4542+13926T>G | |
2 | g.227008122A>G | CA351140653 | COL4A4 | c.307T>C (p.Cys103Arg) c.4705T>C (p.Cys1569Arg) c.4150T>C (p.Cys1384Arg) c.4516T>C (p.Cys1506Arg) c.4216+13926T>C (n.4216+13926T>C) c.4624T>C (p.Cys1542Arg) c.4597T>C (p.Cys1533Arg) c.*38T>C (n.*38T>C) c.3031T>C (p.Cys1011Arg) n.5015T>C n.4526+13926T>C c.4588T>C (p.Cys1530Arg) n.5031T>C n.4777T>C n.4542+13926T>C | |
2 | g.227008122A>T | CA351140652 | COL4A4 | c.307T>A (p.Cys103Ser) c.4705T>A (p.Cys1569Ser) c.4150T>A (p.Cys1384Ser) c.4516T>A (p.Cys1506Ser) c.4216+13926T>A (n.4216+13926T>A) c.4624T>A (p.Cys1542Ser) c.4597T>A (p.Cys1533Ser) c.*38T>A (n.*38T>A) c.3031T>A (p.Cys1011Ser) n.5015T>A n.4526+13926T>A c.4588T>A (p.Cys1530Ser) n.5031T>A n.4777T>A n.4542+13926T>A | |
2 | g.227008123T>A | CA431672142 | COL4A4 | c.306A>T (p.Val102=) c.4704A>T (p.Val1568=) c.4149A>T (p.Val1383=) c.4515A>T (p.Val1505=) c.4216+13925A>T (n.4216+13925A>T) c.4623A>T (p.Val1541=) c.4596A>T (p.Val1532=) c.*37A>T (n.*37A>T) c.3030A>T (p.Val1010=) n.5014A>T n.4526+13925A>T c.4587A>T (p.Val1529=) n.5030A>T n.4776A>T n.4542+13925A>T | |
2 | g.227008123T>C | CA431672143 | COL4A4 | c.306A>G (p.Val102=) c.4704A>G (p.Val1568=) c.4149A>G (p.Val1383=) c.4515A>G (p.Val1505=) c.4216+13925A>G (n.4216+13925A>G) c.4623A>G (p.Val1541=) c.4596A>G (p.Val1532=) c.*37A>G (n.*37A>G) c.3030A>G (p.Val1010=) n.5014A>G n.4526+13925A>G c.4587A>G (p.Val1529=) n.5030A>G n.4776A>G n.4542+13925A>G | gnomAD v4 |
2 | g.227008123T>G | CA431672145 | COL4A4 | c.306A>C (p.Val102=) c.4704A>C (p.Val1568=) c.4149A>C (p.Val1383=) c.4515A>C (p.Val1505=) c.4216+13925A>C (n.4216+13925A>C) c.4623A>C (p.Val1541=) c.4596A>C (p.Val1532=) c.*37A>C (n.*37A>C) c.3030A>C (p.Val1010=) n.5014A>C n.4526+13925A>C c.4587A>C (p.Val1529=) n.5030A>C n.4776A>C n.4542+13925A>C | |
2 | g.227008124A>C | CA351140654 | COL4A4 | c.305T>G (p.Val102Gly) c.4703T>G (p.Val1568Gly) c.4148T>G (p.Val1383Gly) c.4514T>G (p.Val1505Gly) c.4216+13924T>G (n.4216+13924T>G) c.4622T>G (p.Val1541Gly) c.4595T>G (p.Val1532Gly) c.*36T>G (n.*36T>G) c.3029T>G (p.Val1010Gly) n.5013T>G n.4526+13924T>G c.4586T>G (p.Val1529Gly) n.5029T>G n.4775T>G n.4542+13924T>G | |
2 | g.227008124A>G | CA351140655 | COL4A4 | c.305T>C (p.Val102Ala) c.4703T>C (p.Val1568Ala) c.4148T>C (p.Val1383Ala) c.4514T>C (p.Val1505Ala) c.4216+13924T>C (n.4216+13924T>C) c.4622T>C (p.Val1541Ala) c.4595T>C (p.Val1532Ala) c.*36T>C (n.*36T>C) c.3029T>C (p.Val1010Ala) n.5013T>C n.4526+13924T>C c.4586T>C (p.Val1529Ala) n.5029T>C n.4775T>C n.4542+13924T>C | |
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 |