| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108695330_108695343dup | CA2695235251 | COL4A5 | c.4885_4898dup (p.Pro1634SerfsTer30) c.4867_4880dup (p.Pro1628SerfsTer30) n.1379_1392dup n.1716_1729dup c.219+409_219+422dup (n.219+409_219+422dup) c.325-967_325-954dup c.4876_4889dup (p.Pro1631SerfsTer30) c.4561_4574dup (p.Pro1526SerfsTer30) c.2458_2471dup (p.Pro825SerfsTer30) c.4900_4913dup (p.Pro1639SerfsTer30) c.4891_4904dup (p.Pro1636SerfsTer30) c.4882_4895dup (p.Pro1633SerfsTer30) c.3220_3233dup (p.Pro1079SerfsTer30) | |
| X | g.108695331A>C | CA414132772 | COL4A5 | c.4886A>C (p.Glu1629Ala) c.4868A>C (p.Glu1623Ala) n.1380A>C n.1717A>C c.219+410A>C (n.219+410A>C) c.325-966A>C c.4877A>C (p.Glu1626Ala) c.4562A>C (p.Glu1521Ala) c.2459A>C (p.Glu820Ala) c.4901A>C (p.Glu1634Ala) c.4892A>C (p.Glu1631Ala) c.4883A>C (p.Glu1628Ala) c.3221A>C (p.Glu1074Ala) | |
| X | g.108695331A>G | CA414132774 | COL4A5 | c.4886A>G (p.Glu1629Gly) c.4868A>G (p.Glu1623Gly) n.1380A>G n.1717A>G c.219+410A>G (n.219+410A>G) c.325-966A>G c.4877A>G (p.Glu1626Gly) c.4562A>G (p.Glu1521Gly) c.2459A>G (p.Glu820Gly) c.4901A>G (p.Glu1634Gly) c.4892A>G (p.Glu1631Gly) c.4883A>G (p.Glu1628Gly) c.3221A>G (p.Glu1074Gly) | |
| X | g.108695331A>T | CA414132773 | COL4A5 | c.4886A>T (p.Glu1629Val) c.4868A>T (p.Glu1623Val) n.1380A>T n.1717A>T c.219+410A>T (n.219+410A>T) c.325-966A>T c.4877A>T (p.Glu1626Val) c.4562A>T (p.Glu1521Val) c.2459A>T (p.Glu820Val) c.4901A>T (p.Glu1634Val) c.4892A>T (p.Glu1631Val) c.4883A>T (p.Glu1628Val) c.3221A>T (p.Glu1074Val) | |
| X | g.108695332G>A | CA517926103 | COL4A5 | c.4887G>A (p.Glu1629=) c.4869G>A (p.Glu1623=) n.1381G>A n.1718G>A c.219+411G>A (n.219+411G>A) c.325-965G>A c.4878G>A (p.Glu1626=) c.4563G>A (p.Glu1521=) c.2460G>A (p.Glu820=) c.4902G>A (p.Glu1634=) c.4893G>A (p.Glu1631=) c.4884G>A (p.Glu1628=) c.3222G>A (p.Glu1074=) | ClinVar dbSNP gnomAD v4 |
| X | g.108695332G>C | CA414132775 | COL4A5 | c.4887G>C (p.Glu1629Asp) c.4869G>C (p.Glu1623Asp) n.1381G>C n.1718G>C c.219+411G>C (n.219+411G>C) c.325-965G>C c.4878G>C (p.Glu1626Asp) c.4563G>C (p.Glu1521Asp) c.2460G>C (p.Glu820Asp) c.4902G>C (p.Glu1634Asp) c.4893G>C (p.Glu1631Asp) c.4884G>C (p.Glu1628Asp) c.3222G>C (p.Glu1074Asp) | |
| X | g.108695332G= | CA2450721745 | COL4A5 | c.4887G= (p.Glu1629=) c.4869G= (p.Glu1623=) n.1381G= n.1718G= c.219+411G= (n.219+411G=) c.325-965G= c.4878G= (p.Glu1626=) c.4563G= (p.Glu1521=) c.2460G= (p.Glu820=) c.4902G= (p.Glu1634=) c.4893G= (p.Glu1631=) c.4884G= (p.Glu1628=) c.3222G= (p.Glu1074=) | |
| X | g.108695332G>T | CA414132776 | COL4A5 | c.4887G>T (p.Glu1629Asp) c.4869G>T (p.Glu1623Asp) n.1381G>T n.1718G>T c.219+411G>T (n.219+411G>T) c.325-965G>T c.4878G>T (p.Glu1626Asp) c.4563G>T (p.Glu1521Asp) c.2460G>T (p.Glu820Asp) c.4902G>T (p.Glu1634Asp) c.4893G>T (p.Glu1631Asp) c.4884G>T (p.Glu1628Asp) c.3222G>T (p.Glu1074Asp) | |
| X | g.108695333T>A | CA414132777 | COL4A5 | c.4888T>A (p.Phe1630Ile) c.4870T>A (p.Phe1624Ile) n.1382T>A n.1719T>A c.219+412T>A (n.219+412T>A) c.325-964T>A c.4879T>A (p.Phe1627Ile) c.4564T>A (p.Phe1522Ile) c.2461T>A (p.Phe821Ile) c.4903T>A (p.Phe1635Ile) c.4894T>A (p.Phe1632Ile) c.4885T>A (p.Phe1629Ile) c.3223T>A (p.Phe1075Ile) | |
| X | g.108695333T>C | CA414132778 | COL4A5 | c.4888T>C (p.Phe1630Leu) c.4870T>C (p.Phe1624Leu) n.1382T>C n.1719T>C c.219+412T>C (n.219+412T>C) c.325-964T>C c.4879T>C (p.Phe1627Leu) c.4564T>C (p.Phe1522Leu) c.2461T>C (p.Phe821Leu) c.4903T>C (p.Phe1635Leu) c.4894T>C (p.Phe1632Leu) c.4885T>C (p.Phe1629Leu) c.3223T>C (p.Phe1075Leu) | |
| X | g.108695333T>G | CA414132779 | COL4A5 | c.4888T>G (p.Phe1630Val) c.4870T>G (p.Phe1624Val) n.1382T>G n.1719T>G c.219+412T>G (n.219+412T>G) c.325-964T>G c.4879T>G (p.Phe1627Val) c.4564T>G (p.Phe1522Val) c.2461T>G (p.Phe821Val) c.4903T>G (p.Phe1635Val) c.4894T>G (p.Phe1632Val) c.4885T>G (p.Phe1629Val) c.3223T>G (p.Phe1075Val) | |
| X | g.108695334T>A | CA414132780 | COL4A5 | c.4889T>A (p.Phe1630Tyr) c.4871T>A (p.Phe1624Tyr) n.1383T>A n.1720T>A c.219+413T>A (n.219+413T>A) c.325-963T>A c.4880T>A (p.Phe1627Tyr) c.4565T>A (p.Phe1522Tyr) c.2462T>A (p.Phe821Tyr) c.4904T>A (p.Phe1635Tyr) c.4895T>A (p.Phe1632Tyr) c.4886T>A (p.Phe1629Tyr) c.3224T>A (p.Phe1075Tyr) | |
| X | g.108695334T>C | CA414132781 | COL4A5 | c.4889T>C (p.Phe1630Ser) c.4871T>C (p.Phe1624Ser) n.1383T>C n.1720T>C c.219+413T>C (n.219+413T>C) c.325-963T>C c.4880T>C (p.Phe1627Ser) c.4565T>C (p.Phe1522Ser) c.2462T>C (p.Phe821Ser) c.4904T>C (p.Phe1635Ser) c.4895T>C (p.Phe1632Ser) c.4886T>C (p.Phe1629Ser) c.3224T>C (p.Phe1075Ser) | |
| X | g.108695334T>G | CA414132782 | COL4A5 | c.4889T>G (p.Phe1630Cys) c.4871T>G (p.Phe1624Cys) n.1383T>G n.1720T>G c.219+413T>G (n.219+413T>G) c.325-963T>G c.4880T>G (p.Phe1627Cys) c.4565T>G (p.Phe1522Cys) c.2462T>G (p.Phe821Cys) c.4904T>G (p.Phe1635Cys) c.4895T>G (p.Phe1632Cys) c.4886T>G (p.Phe1629Cys) c.3224T>G (p.Phe1075Cys) | |
| X | g.108695337_108695340del | CA2739273724 | COL4A5 | c.4892_4895del (p.Arg1631GlnfsTer27) c.4874_4877del (p.Arg1625GlnfsTer27) n.1386_1389del n.1723_1726del c.219+416_219+419del (n.219+416_219+419del) c.325-960_325-957del c.4883_4886del (p.Arg1628GlnfsTer27) c.4568_4571del (p.Arg1523GlnfsTer27) c.2465_2468del (p.Arg822GlnfsTer27) c.4907_4910del (p.Arg1636GlnfsTer27) c.4898_4901del (p.Arg1633GlnfsTer27) c.4889_4892del (p.Arg1630GlnfsTer27) c.3227_3230del (p.Arg1076GlnfsTer27) | |
| X | g.108695335T>A | CA414132783 | COL4A5 | c.4890T>A (p.Phe1630Leu) c.4872T>A (p.Phe1624Leu) n.1384T>A n.1721T>A c.219+414T>A (n.219+414T>A) c.325-962T>A c.4881T>A (p.Phe1627Leu) c.4566T>A (p.Phe1522Leu) c.2463T>A (p.Phe821Leu) c.4905T>A (p.Phe1635Leu) c.4896T>A (p.Phe1632Leu) c.4887T>A (p.Phe1629Leu) c.3225T>A (p.Phe1075Leu) | |
| X | g.108695335T>C | CA10489442 | COL4A5 | c.4890T>C (p.Phe1630=) c.4872T>C (p.Phe1624=) n.1384T>C n.1721T>C c.219+414T>C (n.219+414T>C) c.325-962T>C c.4881T>C (p.Phe1627=) c.4566T>C (p.Phe1522=) c.2463T>C (p.Phe821=) c.4905T>C (p.Phe1635=) c.4896T>C (p.Phe1632=) c.4887T>C (p.Phe1629=) c.3225T>C (p.Phe1075=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108695335T>G | CA414132784 | COL4A5 | c.4890T>G (p.Phe1630Leu) c.4872T>G (p.Phe1624Leu) n.1384T>G n.1721T>G c.219+414T>G (n.219+414T>G) c.325-962T>G c.4881T>G (p.Phe1627Leu) c.4566T>G (p.Phe1522Leu) c.2463T>G (p.Phe821Leu) c.4905T>G (p.Phe1635Leu) c.4896T>G (p.Phe1632Leu) c.4887T>G (p.Phe1629Leu) c.3225T>G (p.Phe1075Leu) | gnomAD v4 |
| X | g.108695335T= | CA2450721746 | COL4A5 | c.4890T= (p.Phe1630=) c.4872T= (p.Phe1624=) n.1384T= n.1721T= c.219+414T= (n.219+414T=) c.325-962T= c.4881T= (p.Phe1627=) c.4566T= (p.Phe1522=) c.2463T= (p.Phe821=) c.4905T= (p.Phe1635=) c.4896T= (p.Phe1632=) c.4887T= (p.Phe1629=) c.3225T= (p.Phe1075=) | |
| X | g.108695336C>A | CA414132785 | COL4A5 | c.4891C>A (p.Arg1631Ser) c.4873C>A (p.Arg1625Ser) n.1385C>A n.1722C>A c.219+415C>A (n.219+415C>A) c.325-961C>A c.4882C>A (p.Arg1628Ser) c.4567C>A (p.Arg1523Ser) c.2464C>A (p.Arg822Ser) c.4906C>A (p.Arg1636Ser) c.4897C>A (p.Arg1633Ser) c.4888C>A (p.Arg1630Ser) c.3226C>A (p.Arg1076Ser) | |
| X | g.108695336C= | CA2450721747 | COL4A5 | c.4891C= (p.Arg1631=) c.4873C= (p.Arg1625=) n.1385C= n.1722C= c.219+415C= (n.219+415C=) c.325-961C= c.4882C= (p.Arg1628=) c.4567C= (p.Arg1523=) c.2464C= (p.Arg822=) c.4906C= (p.Arg1636=) c.4897C= (p.Arg1633=) c.4888C= (p.Arg1630=) c.3226C= (p.Arg1076=) | |
| X | g.108695336C>G | CA414132786 | COL4A5 | c.4891C>G (p.Arg1631Gly) c.4873C>G (p.Arg1625Gly) n.1385C>G n.1722C>G c.219+415C>G (n.219+415C>G) c.325-961C>G c.4882C>G (p.Arg1628Gly) c.4567C>G (p.Arg1523Gly) c.2464C>G (p.Arg822Gly) c.4906C>G (p.Arg1636Gly) c.4897C>G (p.Arg1633Gly) c.4888C>G (p.Arg1630Gly) c.3226C>G (p.Arg1076Gly) | |
| X | g.108695336C>T | CA334063315 | COL4A5 | c.4891C>T (p.Arg1631Cys) c.4873C>T (p.Arg1625Cys) n.1385C>T n.1722C>T c.219+415C>T (n.219+415C>T) c.325-961C>T c.4882C>T (p.Arg1628Cys) c.4567C>T (p.Arg1523Cys) c.2464C>T (p.Arg822Cys) c.4906C>T (p.Arg1636Cys) c.4897C>T (p.Arg1633Cys) c.4888C>T (p.Arg1630Cys) c.3226C>T (p.Arg1076Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108695337G>A | CA10489443 | COL4A5 | c.4892G>A (p.Arg1631His) c.4874G>A (p.Arg1625His) n.1386G>A n.1723G>A c.219+416G>A (n.219+416G>A) c.325-960G>A c.4883G>A (p.Arg1628His) c.4568G>A (p.Arg1523His) c.2465G>A (p.Arg822His) c.4907G>A (p.Arg1636His) c.4898G>A (p.Arg1633His) c.4889G>A (p.Arg1630His) c.3227G>A (p.Arg1076His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.108695337G>C | CA414132787 | COL4A5 | c.4892G>C (p.Arg1631Pro) c.4874G>C (p.Arg1625Pro) n.1386G>C n.1723G>C c.219+416G>C (n.219+416G>C) c.325-960G>C c.4883G>C (p.Arg1628Pro) c.4568G>C (p.Arg1523Pro) c.2465G>C (p.Arg822Pro) c.4907G>C (p.Arg1636Pro) c.4898G>C (p.Arg1633Pro) c.4889G>C (p.Arg1630Pro) c.3227G>C (p.Arg1076Pro) | |
| X | g.108695337G= | CA2450721748 | COL4A5 | c.4892G= (p.Arg1631=) c.4874G= (p.Arg1625=) n.1386G= n.1723G= c.219+416G= (n.219+416G=) c.325-960G= c.4883G= (p.Arg1628=) c.4568G= (p.Arg1523=) c.2465G= (p.Arg822=) c.4907G= (p.Arg1636=) c.4898G= (p.Arg1633=) c.4889G= (p.Arg1630=) c.3227G= (p.Arg1076=) | |
| X | g.108695337G>T | CA414132788 | COL4A5 | c.4892G>T (p.Arg1631Leu) c.4874G>T (p.Arg1625Leu) n.1386G>T n.1723G>T c.219+416G>T (n.219+416G>T) c.325-960G>T c.4883G>T (p.Arg1628Leu) c.4568G>T (p.Arg1523Leu) c.2465G>T (p.Arg822Leu) c.4907G>T (p.Arg1636Leu) c.4898G>T (p.Arg1633Leu) c.4889G>T (p.Arg1630Leu) c.3227G>T (p.Arg1076Leu) | dbSNP |
| X | g.108695338T>A | CA517926104 | COL4A5 | c.4893T>A (p.Arg1631=) c.4875T>A (p.Arg1625=) n.1387T>A n.1724T>A c.219+417T>A (n.219+417T>A) c.325-959T>A c.4884T>A (p.Arg1628=) c.4569T>A (p.Arg1523=) c.2466T>A (p.Arg822=) c.4908T>A (p.Arg1636=) c.4899T>A (p.Arg1633=) c.4890T>A (p.Arg1630=) c.3228T>A (p.Arg1076=) | |
| X | g.108695338T>C | CA517926106 | COL4A5 | c.4893T>C (p.Arg1631=) c.4875T>C (p.Arg1625=) n.1387T>C n.1724T>C c.219+417T>C (n.219+417T>C) c.325-959T>C c.4884T>C (p.Arg1628=) c.4569T>C (p.Arg1523=) c.2466T>C (p.Arg822=) c.4908T>C (p.Arg1636=) c.4899T>C (p.Arg1633=) c.4890T>C (p.Arg1630=) c.3228T>C (p.Arg1076=) | COSMIC COSMIC |
| X | g.108695338T>G | CA517926105 | COL4A5 | c.4893T>G (p.Arg1631=) c.4875T>G (p.Arg1625=) n.1387T>G n.1724T>G c.219+417T>G (n.219+417T>G) c.325-959T>G c.4884T>G (p.Arg1628=) c.4569T>G (p.Arg1523=) c.2466T>G (p.Arg822=) c.4908T>G (p.Arg1636=) c.4899T>G (p.Arg1633=) c.4890T>G (p.Arg1630=) c.3228T>G (p.Arg1076=) | |
| X | g.108695339T>A | CA414132789 | COL4A5 | c.4894T>A (p.Ser1632Thr) c.4876T>A (p.Ser1626Thr) n.1388T>A n.1725T>A c.219+418T>A (n.219+418T>A) c.325-958T>A c.4885T>A (p.Ser1629Thr) c.4570T>A (p.Ser1524Thr) c.2467T>A (p.Ser823Thr) c.4909T>A (p.Ser1637Thr) c.4900T>A (p.Ser1634Thr) c.4891T>A (p.Ser1631Thr) c.3229T>A (p.Ser1077Thr) | |
| X | g.108695339T>C | CA414132790 | COL4A5 | c.4894T>C (p.Ser1632Pro) c.4876T>C (p.Ser1626Pro) n.1388T>C n.1725T>C c.219+418T>C (n.219+418T>C) c.325-958T>C c.4885T>C (p.Ser1629Pro) c.4570T>C (p.Ser1524Pro) c.2467T>C (p.Ser823Pro) c.4909T>C (p.Ser1637Pro) c.4900T>C (p.Ser1634Pro) c.4891T>C (p.Ser1631Pro) c.3229T>C (p.Ser1077Pro) | gnomAD v4 |
| X | g.108695339T>G | CA414132791 | COL4A5 | c.4894T>G (p.Ser1632Ala) c.4876T>G (p.Ser1626Ala) n.1388T>G n.1725T>G c.219+418T>G (n.219+418T>G) c.325-958T>G c.4885T>G (p.Ser1629Ala) c.4570T>G (p.Ser1524Ala) c.2467T>G (p.Ser823Ala) c.4909T>G (p.Ser1637Ala) c.4900T>G (p.Ser1634Ala) c.4891T>G (p.Ser1631Ala) c.3229T>G (p.Ser1077Ala) | |
| X | g.108695340C>A | CA414132792 | COL4A5 | c.4895C>A (p.Ser1632Ter) c.4877C>A (p.Ser1626Ter) n.1389C>A n.1726C>A c.219+419C>A (n.219+419C>A) c.325-957C>A c.4886C>A (p.Ser1629Ter) c.4571C>A (p.Ser1524Ter) c.2468C>A (p.Ser823Ter) c.4910C>A (p.Ser1637Ter) c.4901C>A (p.Ser1634Ter) c.4892C>A (p.Ser1631Ter) c.3230C>A (p.Ser1077Ter) | |
| X | g.108695340C= | CA2450721749 | COL4A5 | c.4895C= (p.Ser1632=) c.4877C= (p.Ser1626=) n.1389C= n.1726C= c.219+419C= (n.219+419C=) c.325-957C= c.4886C= (p.Ser1629=) c.4571C= (p.Ser1524=) c.2468C= (p.Ser823=) c.4910C= (p.Ser1637=) c.4901C= (p.Ser1634=) c.4892C= (p.Ser1631=) c.3230C= (p.Ser1077=) | |
| X | g.108695340C>G | CA414132793 | COL4A5 | c.4895C>G (p.Ser1632Ter) c.4877C>G (p.Ser1626Ter) n.1389C>G n.1726C>G c.219+419C>G (n.219+419C>G) c.325-957C>G c.4886C>G (p.Ser1629Ter) c.4571C>G (p.Ser1524Ter) c.2468C>G (p.Ser823Ter) c.4910C>G (p.Ser1637Ter) c.4901C>G (p.Ser1634Ter) c.4892C>G (p.Ser1631Ter) c.3230C>G (p.Ser1077Ter) | |
| X | g.108695340C>T | CA414132794 | COL4A5 | c.4895C>T (p.Ser1632Leu) c.4877C>T (p.Ser1626Leu) n.1389C>T n.1726C>T c.219+419C>T (n.219+419C>T) c.325-957C>T c.4886C>T (p.Ser1629Leu) c.4571C>T (p.Ser1524Leu) c.2468C>T (p.Ser823Leu) c.4910C>T (p.Ser1637Leu) c.4901C>T (p.Ser1634Leu) c.4892C>T (p.Ser1631Leu) c.3230C>T (p.Ser1077Leu) | ClinVar dbSNP |
| X | g.108695341A>C | CA517926107 | COL4A5 | c.4896A>C (p.Ser1632=) c.4878A>C (p.Ser1626=) n.1390A>C n.1727A>C c.219+420A>C (n.219+420A>C) c.325-956A>C c.4887A>C (p.Ser1629=) c.4572A>C (p.Ser1524=) c.2469A>C (p.Ser823=) c.4911A>C (p.Ser1637=) c.4902A>C (p.Ser1634=) c.4893A>C (p.Ser1631=) c.3231A>C (p.Ser1077=) | |
| X | g.108695341A>G | CA517926108 | COL4A5 | c.4896A>G (p.Ser1632=) c.4878A>G (p.Ser1626=) n.1390A>G n.1727A>G c.219+420A>G (n.219+420A>G) c.325-956A>G c.4887A>G (p.Ser1629=) c.4572A>G (p.Ser1524=) c.2469A>G (p.Ser823=) c.4911A>G (p.Ser1637=) c.4902A>G (p.Ser1634=) c.4893A>G (p.Ser1631=) c.3231A>G (p.Ser1077=) | ClinVar dbSNP |
| X | g.108695341A>T | CA517926109 | COL4A5 | c.4896A>T (p.Ser1632=) c.4878A>T (p.Ser1626=) n.1390A>T n.1727A>T c.219+420A>T (n.219+420A>T) c.325-956A>T c.4887A>T (p.Ser1629=) c.4572A>T (p.Ser1524=) c.2469A>T (p.Ser823=) c.4911A>T (p.Ser1637=) c.4902A>T (p.Ser1634=) c.4893A>T (p.Ser1631=) c.3231A>T (p.Ser1077=) | |
| X | g.108695342G>A | CA414132795 | COL4A5 | c.4897G>A (p.Ala1633Thr) c.4879G>A (p.Ala1627Thr) n.1391G>A n.1728G>A c.219+421G>A (n.219+421G>A) c.325-955G>A c.4888G>A (p.Ala1630Thr) c.4573G>A (p.Ala1525Thr) c.2470G>A (p.Ala824Thr) c.4912G>A (p.Ala1638Thr) c.4903G>A (p.Ala1635Thr) c.4894G>A (p.Ala1632Thr) c.3232G>A (p.Ala1078Thr) | |
| X | g.108695342G>C | CA414132796 | COL4A5 | c.4897G>C (p.Ala1633Pro) c.4879G>C (p.Ala1627Pro) n.1391G>C n.1728G>C c.219+421G>C (n.219+421G>C) c.325-955G>C c.4888G>C (p.Ala1630Pro) c.4573G>C (p.Ala1525Pro) c.2470G>C (p.Ala824Pro) c.4912G>C (p.Ala1638Pro) c.4903G>C (p.Ala1635Pro) c.4894G>C (p.Ala1632Pro) c.3232G>C (p.Ala1078Pro) | |
| X | g.108695342G>T | CA414132797 | COL4A5 | c.4897G>T (p.Ala1633Ser) c.4879G>T (p.Ala1627Ser) n.1391G>T n.1728G>T c.219+421G>T (n.219+421G>T) c.325-955G>T c.4888G>T (p.Ala1630Ser) c.4573G>T (p.Ala1525Ser) c.2470G>T (p.Ala824Ser) c.4912G>T (p.Ala1638Ser) c.4903G>T (p.Ala1635Ser) c.4894G>T (p.Ala1632Ser) c.3232G>T (p.Ala1078Ser) | |
| X | g.108695342_108695346delinsGCTCC | CA2450721750 | COL4A5 | c.4897_4901delinsGCTCC (p.Ala1633=) c.4879_4883delinsGCTCC (p.Ala1627=) n.1391_1395delinsGCTCC n.1728_1732delinsGCTCC c.219+421_219+425delinsGCTCC (n.219+421_219+425delinsGCTCC) c.325-955_325-951delinsGCTCC c.4888_4892delinsGCTCC (p.Ala1630=) c.4573_4577delinsGCTCC (p.Ala1525=) c.2470_2474delinsGCTCC (p.Ala824=) c.4912_4916delinsGCTCC (p.Ala1638=) c.4903_4907delinsGCTCC (p.Ala1635=) c.4894_4898delinsGCTCC (p.Ala1632=) c.3232_3236delinsGCTCC (p.Ala1078=) | |
| X | g.108695343C>A | CA414132799 | COL4A5 | c.4898C>A (p.Ala1633Asp) c.4880C>A (p.Ala1627Asp) n.1392C>A n.1729C>A c.219+422C>A (n.219+422C>A) c.325-954C>A c.4889C>A (p.Ala1630Asp) c.4574C>A (p.Ala1525Asp) c.2471C>A (p.Ala824Asp) c.4913C>A (p.Ala1638Asp) c.4904C>A (p.Ala1635Asp) c.4895C>A (p.Ala1632Asp) c.3233C>A (p.Ala1078Asp) | |
| X | g.108695343C= | CA2450721751 | COL4A5 | c.4898C= (p.Ala1633=) c.4880C= (p.Ala1627=) n.1392C= n.1729C= c.219+422C= (n.219+422C=) c.325-954C= c.4889C= (p.Ala1630=) c.4574C= (p.Ala1525=) c.2471C= (p.Ala824=) c.4913C= (p.Ala1638=) c.4904C= (p.Ala1635=) c.4895C= (p.Ala1632=) c.3233C= (p.Ala1078=) | |
| X | g.108695343C>G | CA414132798 | COL4A5 | c.4898C>G (p.Ala1633Gly) c.4880C>G (p.Ala1627Gly) n.1392C>G n.1729C>G c.219+422C>G (n.219+422C>G) c.325-954C>G c.4889C>G (p.Ala1630Gly) c.4574C>G (p.Ala1525Gly) c.2471C>G (p.Ala824Gly) c.4913C>G (p.Ala1638Gly) c.4904C>G (p.Ala1635Gly) c.4895C>G (p.Ala1632Gly) c.3233C>G (p.Ala1078Gly) | |
| X | g.108695343C>T | CA334063356 | COL4A5 | c.4898C>T (p.Ala1633Val) c.4880C>T (p.Ala1627Val) n.1392C>T n.1729C>T c.219+422C>T (n.219+422C>T) c.325-954C>T c.4889C>T (p.Ala1630Val) c.4574C>T (p.Ala1525Val) c.2471C>T (p.Ala824Val) c.4913C>T (p.Ala1638Val) c.4904C>T (p.Ala1635Val) c.4895C>T (p.Ala1632Val) c.3233C>T (p.Ala1078Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108695345_108695348del | CA10588942 | COL4A5 | c.4900_4903del (p.Pro1634SerfsTer24) c.4882_4885del (p.Pro1628SerfsTer24) n.1394_1397del n.1731_1734del c.219+424_219+427del (n.219+424_219+427del) c.325-952_325-949del c.4891_4894del (p.Pro1631SerfsTer24) c.4576_4579del (p.Pro1526SerfsTer24) c.2473_2476del (p.Pro825SerfsTer24) c.4915_4918del (p.Pro1639SerfsTer24) c.4906_4909del (p.Pro1636SerfsTer24) c.4897_4900del (p.Pro1633SerfsTer24) c.3235_3238del (p.Pro1079SerfsTer24) | ClinVar dbSNP |
| X | g.108695344T>A | CA517926110 | COL4A5 | c.4899T>A (p.Ala1633=) c.4881T>A (p.Ala1627=) n.1393T>A n.1730T>A c.219+423T>A (n.219+423T>A) c.325-953T>A c.4890T>A (p.Ala1630=) c.4575T>A (p.Ala1525=) c.2472T>A (p.Ala824=) c.4914T>A (p.Ala1638=) c.4905T>A (p.Ala1635=) c.4896T>A (p.Ala1632=) c.3234T>A (p.Ala1078=) |