| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108157120G>A | CA518100782 | COL4A6 | c.4953C>T (p.Phe1651=) c.4956C>T (p.Phe1652=) c.5004C>T (p.Phe1668=) c.4782C>T (p.Phe1594=) c.4917C>T (p.Phe1639=) c.4881C>T (p.Phe1627=) c.5007C>T (p.Phe1669=) c.4935C>T (p.Phe1645=) c.4923C>T (p.Phe1641=) | |
| X | g.108157120G>C | CA413848252 | COL4A6 | c.4953C>G (p.Phe1651Leu) c.4956C>G (p.Phe1652Leu) c.5004C>G (p.Phe1668Leu) c.4782C>G (p.Phe1594Leu) c.4917C>G (p.Phe1639Leu) c.4881C>G (p.Phe1627Leu) c.5007C>G (p.Phe1669Leu) c.4935C>G (p.Phe1645Leu) c.4923C>G (p.Phe1641Leu) | |
| X | g.108157120G>T | CA413848254 | COL4A6 | c.4953C>A (p.Phe1651Leu) c.4956C>A (p.Phe1652Leu) c.5004C>A (p.Phe1668Leu) c.4782C>A (p.Phe1594Leu) c.4917C>A (p.Phe1639Leu) c.4881C>A (p.Phe1627Leu) c.5007C>A (p.Phe1669Leu) c.4935C>A (p.Phe1645Leu) c.4923C>A (p.Phe1641Leu) | |
| X | g.108157121A>C | CA413848255 | COL4A6 | c.4952T>G (p.Phe1651Cys) c.4955T>G (p.Phe1652Cys) c.5003T>G (p.Phe1668Cys) c.4781T>G (p.Phe1594Cys) c.4916T>G (p.Phe1639Cys) c.4880T>G (p.Phe1627Cys) c.5006T>G (p.Phe1669Cys) c.4934T>G (p.Phe1645Cys) c.4922T>G (p.Phe1641Cys) | |
| X | g.108157121A>G | CA413848257 | COL4A6 | c.4952T>C (p.Phe1651Ser) c.4955T>C (p.Phe1652Ser) c.5003T>C (p.Phe1668Ser) c.4781T>C (p.Phe1594Ser) c.4916T>C (p.Phe1639Ser) c.4880T>C (p.Phe1627Ser) c.5006T>C (p.Phe1669Ser) c.4934T>C (p.Phe1645Ser) c.4922T>C (p.Phe1641Ser) | |
| X | g.108157121A>T | CA413848256 | COL4A6 | c.4952T>A (p.Phe1651Tyr) c.4955T>A (p.Phe1652Tyr) c.5003T>A (p.Phe1668Tyr) c.4781T>A (p.Phe1594Tyr) c.4916T>A (p.Phe1639Tyr) c.4880T>A (p.Phe1627Tyr) c.5006T>A (p.Phe1669Tyr) c.4934T>A (p.Phe1645Tyr) c.4922T>A (p.Phe1641Tyr) | |
| X | g.108157122A= | CA2450541958 | COL4A6 | c.4951T= (p.Phe1651=) c.4954T= (p.Phe1652=) c.5002T= (p.Phe1668=) c.4780T= (p.Phe1594=) c.4915T= (p.Phe1639=) c.4879T= (p.Phe1627=) c.5005T= (p.Phe1669=) c.4933T= (p.Phe1645=) c.4921T= (p.Phe1641=) | |
| X | g.108157122A>C | CA413848258 | COL4A6 | c.4951T>G (p.Phe1651Val) c.4954T>G (p.Phe1652Val) c.5002T>G (p.Phe1668Val) c.4780T>G (p.Phe1594Val) c.4915T>G (p.Phe1639Val) c.4879T>G (p.Phe1627Val) c.5005T>G (p.Phe1669Val) c.4933T>G (p.Phe1645Val) c.4921T>G (p.Phe1641Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157122A>G | CA413848259 | COL4A6 | c.4951T>C (p.Phe1651Leu) c.4954T>C (p.Phe1652Leu) c.5002T>C (p.Phe1668Leu) c.4780T>C (p.Phe1594Leu) c.4915T>C (p.Phe1639Leu) c.4879T>C (p.Phe1627Leu) c.5005T>C (p.Phe1669Leu) c.4933T>C (p.Phe1645Leu) c.4921T>C (p.Phe1641Leu) | |
| X | g.108157122A>T | CA413848260 | COL4A6 | c.4951T>A (p.Phe1651Ile) c.4954T>A (p.Phe1652Ile) c.5002T>A (p.Phe1668Ile) c.4780T>A (p.Phe1594Ile) c.4915T>A (p.Phe1639Ile) c.4879T>A (p.Phe1627Ile) c.5005T>A (p.Phe1669Ile) c.4933T>A (p.Phe1645Ile) c.4921T>A (p.Phe1641Ile) | |
| X | g.108157123A>C | CA413848261 | COL4A6 | c.4950T>G (p.Ser1650Arg) c.4953T>G (p.Ser1651Arg) c.5001T>G (p.Ser1667Arg) c.4779T>G (p.Ser1593Arg) c.4914T>G (p.Ser1638Arg) c.4878T>G (p.Ser1626Arg) c.5004T>G (p.Ser1668Arg) c.4932T>G (p.Ser1644Arg) c.4920T>G (p.Ser1640Arg) | |
| X | g.108157123A>G | CA518100787 | COL4A6 | c.4950T>C (p.Ser1650=) c.4953T>C (p.Ser1651=) c.5001T>C (p.Ser1667=) c.4779T>C (p.Ser1593=) c.4914T>C (p.Ser1638=) c.4878T>C (p.Ser1626=) c.5004T>C (p.Ser1668=) c.4932T>C (p.Ser1644=) c.4920T>C (p.Ser1640=) | |
| X | g.108157123A>T | CA413848262 | COL4A6 | c.4950T>A (p.Ser1650Arg) c.4953T>A (p.Ser1651Arg) c.5001T>A (p.Ser1667Arg) c.4779T>A (p.Ser1593Arg) c.4914T>A (p.Ser1638Arg) c.4878T>A (p.Ser1626Arg) c.5004T>A (p.Ser1668Arg) c.4932T>A (p.Ser1644Arg) c.4920T>A (p.Ser1640Arg) | |
| X | g.108157124C>A | CA413848263 | COL4A6 | c.4949G>T (p.Ser1650Ile) c.4952G>T (p.Ser1651Ile) c.5000G>T (p.Ser1667Ile) c.4778G>T (p.Ser1593Ile) c.4913G>T (p.Ser1638Ile) c.4877G>T (p.Ser1626Ile) c.5003G>T (p.Ser1668Ile) c.4931G>T (p.Ser1644Ile) c.4919G>T (p.Ser1640Ile) | |
| X | g.108157124C= | CA2450541959 | COL4A6 | c.4949G= (p.Ser1650=) c.4952G= (p.Ser1651=) c.5000G= (p.Ser1667=) c.4778G= (p.Ser1593=) c.4913G= (p.Ser1638=) c.4877G= (p.Ser1626=) c.5003G= (p.Ser1668=) c.4931G= (p.Ser1644=) c.4919G= (p.Ser1640=) | |
| X | g.108157124C>G | CA413848264 | COL4A6 | c.4949G>C (p.Ser1650Thr) c.4952G>C (p.Ser1651Thr) c.5000G>C (p.Ser1667Thr) c.4778G>C (p.Ser1593Thr) c.4913G>C (p.Ser1638Thr) c.4877G>C (p.Ser1626Thr) c.5003G>C (p.Ser1668Thr) c.4931G>C (p.Ser1644Thr) c.4919G>C (p.Ser1640Thr) | |
| X | g.108157124C>T | CA10487082 | COL4A6 | c.4949G>A (p.Ser1650Asn) c.4952G>A (p.Ser1651Asn) c.5000G>A (p.Ser1667Asn) c.4778G>A (p.Ser1593Asn) c.4913G>A (p.Ser1638Asn) c.4877G>A (p.Ser1626Asn) c.5003G>A (p.Ser1668Asn) c.4931G>A (p.Ser1644Asn) c.4919G>A (p.Ser1640Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157125T>A | CA413848265 | COL4A6 | c.4948A>T (p.Ser1650Cys) c.4951A>T (p.Ser1651Cys) c.4999A>T (p.Ser1667Cys) c.4777A>T (p.Ser1593Cys) c.4912A>T (p.Ser1638Cys) c.4876A>T (p.Ser1626Cys) c.5002A>T (p.Ser1668Cys) c.4930A>T (p.Ser1644Cys) c.4918A>T (p.Ser1640Cys) | |
| X | g.108157125T>C | CA413848266 | COL4A6 | c.4948A>G (p.Ser1650Gly) c.4951A>G (p.Ser1651Gly) c.4999A>G (p.Ser1667Gly) c.4777A>G (p.Ser1593Gly) c.4912A>G (p.Ser1638Gly) c.4876A>G (p.Ser1626Gly) c.5002A>G (p.Ser1668Gly) c.4930A>G (p.Ser1644Gly) c.4918A>G (p.Ser1640Gly) | |
| X | g.108157125T>G | CA413848267 | COL4A6 | c.4948A>C (p.Ser1650Arg) c.4951A>C (p.Ser1651Arg) c.4999A>C (p.Ser1667Arg) c.4777A>C (p.Ser1593Arg) c.4912A>C (p.Ser1638Arg) c.4876A>C (p.Ser1626Arg) c.5002A>C (p.Ser1668Arg) c.4930A>C (p.Ser1644Arg) c.4918A>C (p.Ser1640Arg) | |
| X | g.108157126_108157127del | CA645614505 | COL4A6 | c.4947_4948del (p.Tyr1649Ter) c.4950_4951del (p.Tyr1650Ter) c.4998_4999del (p.Tyr1666Ter) c.4776_4777del (p.Tyr1592Ter) c.4911_4912del (p.Tyr1637Ter) c.4875_4876del (p.Tyr1625Ter) c.5001_5002del (p.Tyr1667Ter) c.4929_4930del (p.Tyr1643Ter) c.4917_4918del (p.Tyr1639Ter) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.108157126G>A | CA518100790 | COL4A6 | c.4947C>T (p.Tyr1649=) c.4950C>T (p.Tyr1650=) c.4998C>T (p.Tyr1666=) c.4776C>T (p.Tyr1592=) c.4911C>T (p.Tyr1637=) c.4875C>T (p.Tyr1625=) c.5001C>T (p.Tyr1667=) c.4929C>T (p.Tyr1643=) c.4917C>T (p.Tyr1639=) | gnomAD v4 |
| X | g.108157126G>C | CA413848268 | COL4A6 | c.4947C>G (p.Tyr1649Ter) c.4950C>G (p.Tyr1650Ter) c.4998C>G (p.Tyr1666Ter) c.4776C>G (p.Tyr1592Ter) c.4911C>G (p.Tyr1637Ter) c.4875C>G (p.Tyr1625Ter) c.5001C>G (p.Tyr1667Ter) c.4929C>G (p.Tyr1643Ter) c.4917C>G (p.Tyr1639Ter) | gnomAD v4 |
| X | g.108157126G>T | CA413848269 | COL4A6 | c.4947C>A (p.Tyr1649Ter) c.4950C>A (p.Tyr1650Ter) c.4998C>A (p.Tyr1666Ter) c.4776C>A (p.Tyr1592Ter) c.4911C>A (p.Tyr1637Ter) c.4875C>A (p.Tyr1625Ter) c.5001C>A (p.Tyr1667Ter) c.4929C>A (p.Tyr1643Ter) c.4917C>A (p.Tyr1639Ter) | |
| X | g.108157127T>A | CA413848270 | COL4A6 | c.4946A>T (p.Tyr1649Phe) c.4949A>T (p.Tyr1650Phe) c.4997A>T (p.Tyr1666Phe) c.4775A>T (p.Tyr1592Phe) c.4910A>T (p.Tyr1637Phe) c.4874A>T (p.Tyr1625Phe) c.5000A>T (p.Tyr1667Phe) c.4928A>T (p.Tyr1643Phe) c.4916A>T (p.Tyr1639Phe) | |
| X | g.108157127T>C | CA413848272 | COL4A6 | c.4946A>G (p.Tyr1649Cys) c.4949A>G (p.Tyr1650Cys) c.4997A>G (p.Tyr1666Cys) c.4775A>G (p.Tyr1592Cys) c.4910A>G (p.Tyr1637Cys) c.4874A>G (p.Tyr1625Cys) c.5000A>G (p.Tyr1667Cys) c.4928A>G (p.Tyr1643Cys) c.4916A>G (p.Tyr1639Cys) | |
| X | g.108157127T>G | CA413848271 | COL4A6 | c.4946A>C (p.Tyr1649Ser) c.4949A>C (p.Tyr1650Ser) c.4997A>C (p.Tyr1666Ser) c.4775A>C (p.Tyr1592Ser) c.4910A>C (p.Tyr1637Ser) c.4874A>C (p.Tyr1625Ser) c.5000A>C (p.Tyr1667Ser) c.4928A>C (p.Tyr1643Ser) c.4916A>C (p.Tyr1639Ser) | |
| X | g.108157128A>C | CA413848273 | COL4A6 | c.4945T>G (p.Tyr1649Asp) c.4948T>G (p.Tyr1650Asp) c.4996T>G (p.Tyr1666Asp) c.4774T>G (p.Tyr1592Asp) c.4909T>G (p.Tyr1637Asp) c.4873T>G (p.Tyr1625Asp) c.4999T>G (p.Tyr1667Asp) c.4927T>G (p.Tyr1643Asp) c.4915T>G (p.Tyr1639Asp) | |
| X | g.108157128A>G | CA413848274 | COL4A6 | c.4945T>C (p.Tyr1649His) c.4948T>C (p.Tyr1650His) c.4996T>C (p.Tyr1666His) c.4774T>C (p.Tyr1592His) c.4909T>C (p.Tyr1637His) c.4873T>C (p.Tyr1625His) c.4999T>C (p.Tyr1667His) c.4927T>C (p.Tyr1643His) c.4915T>C (p.Tyr1639His) | |
| X | g.108157128A>T | CA413848275 | COL4A6 | c.4945T>A (p.Tyr1649Asn) c.4948T>A (p.Tyr1650Asn) c.4996T>A (p.Tyr1666Asn) c.4774T>A (p.Tyr1592Asn) c.4909T>A (p.Tyr1637Asn) c.4873T>A (p.Tyr1625Asn) c.4999T>A (p.Tyr1667Asn) c.4927T>A (p.Tyr1643Asn) c.4915T>A (p.Tyr1639Asn) | |
| X | g.108157129C>A | CA413848276 | COL4A6 | c.4944G>T (p.Lys1648Asn) c.4947G>T (p.Lys1649Asn) c.4995G>T (p.Lys1665Asn) c.4773G>T (p.Lys1591Asn) c.4908G>T (p.Lys1636Asn) c.4872G>T (p.Lys1624Asn) c.4998G>T (p.Lys1666Asn) c.4926G>T (p.Lys1642Asn) c.4914G>T (p.Lys1638Asn) | |
| X | g.108157129C>G | CA413848277 | COL4A6 | c.4944G>C (p.Lys1648Asn) c.4947G>C (p.Lys1649Asn) c.4995G>C (p.Lys1665Asn) c.4773G>C (p.Lys1591Asn) c.4908G>C (p.Lys1636Asn) c.4872G>C (p.Lys1624Asn) c.4998G>C (p.Lys1666Asn) c.4926G>C (p.Lys1642Asn) c.4914G>C (p.Lys1638Asn) | |
| X | g.108157129C>T | CA518100792 | COL4A6 | c.4944G>A (p.Lys1648=) c.4947G>A (p.Lys1649=) c.4995G>A (p.Lys1665=) c.4773G>A (p.Lys1591=) c.4908G>A (p.Lys1636=) c.4872G>A (p.Lys1624=) c.4998G>A (p.Lys1666=) c.4926G>A (p.Lys1642=) c.4914G>A (p.Lys1638=) | |
| X | g.108157130T>A | CA413848278 | COL4A6 | c.4943A>T (p.Lys1648Met) c.4946A>T (p.Lys1649Met) c.4994A>T (p.Lys1665Met) c.4772A>T (p.Lys1591Met) c.4907A>T (p.Lys1636Met) c.4871A>T (p.Lys1624Met) c.4997A>T (p.Lys1666Met) c.4925A>T (p.Lys1642Met) c.4913A>T (p.Lys1638Met) | |
| X | g.108157130T>C | CA413848279 | COL4A6 | c.4943A>G (p.Lys1648Arg) c.4946A>G (p.Lys1649Arg) c.4994A>G (p.Lys1665Arg) c.4772A>G (p.Lys1591Arg) c.4907A>G (p.Lys1636Arg) c.4871A>G (p.Lys1624Arg) c.4997A>G (p.Lys1666Arg) c.4925A>G (p.Lys1642Arg) c.4913A>G (p.Lys1638Arg) | |
| X | g.108157130T>G | CA413848280 | COL4A6 | c.4943A>C (p.Lys1648Thr) c.4946A>C (p.Lys1649Thr) c.4994A>C (p.Lys1665Thr) c.4772A>C (p.Lys1591Thr) c.4907A>C (p.Lys1636Thr) c.4871A>C (p.Lys1624Thr) c.4997A>C (p.Lys1666Thr) c.4925A>C (p.Lys1642Thr) c.4913A>C (p.Lys1638Thr) | |
| X | g.108157131T>A | CA413848281 | COL4A6 | c.4942A>T (p.Lys1648Ter) c.4945A>T (p.Lys1649Ter) c.4993A>T (p.Lys1665Ter) c.4771A>T (p.Lys1591Ter) c.4906A>T (p.Lys1636Ter) c.4870A>T (p.Lys1624Ter) c.4996A>T (p.Lys1666Ter) c.4924A>T (p.Lys1642Ter) c.4912A>T (p.Lys1638Ter) | |
| X | g.108157131T>C | CA413848282 | COL4A6 | c.4942A>G (p.Lys1648Glu) c.4945A>G (p.Lys1649Glu) c.4993A>G (p.Lys1665Glu) c.4771A>G (p.Lys1591Glu) c.4906A>G (p.Lys1636Glu) c.4870A>G (p.Lys1624Glu) c.4996A>G (p.Lys1666Glu) c.4924A>G (p.Lys1642Glu) c.4912A>G (p.Lys1638Glu) | |
| X | g.108157131T>G | CA413848283 | COL4A6 | c.4942A>C (p.Lys1648Gln) c.4945A>C (p.Lys1649Gln) c.4993A>C (p.Lys1665Gln) c.4771A>C (p.Lys1591Gln) c.4906A>C (p.Lys1636Gln) c.4870A>C (p.Lys1624Gln) c.4996A>C (p.Lys1666Gln) c.4924A>C (p.Lys1642Gln) c.4912A>C (p.Lys1638Gln) | |
| X | g.108157132G>A | CA518100796 | COL4A6 | c.4941C>T (p.Asn1647=) c.4944C>T (p.Asn1648=) c.4992C>T (p.Asn1664=) c.4770C>T (p.Asn1590=) c.4905C>T (p.Asn1635=) c.4869C>T (p.Asn1623=) c.4995C>T (p.Asn1665=) c.4923C>T (p.Asn1641=) c.4911C>T (p.Asn1637=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157132G>C | CA413848285 | COL4A6 | c.4941C>G (p.Asn1647Lys) c.4944C>G (p.Asn1648Lys) c.4992C>G (p.Asn1664Lys) c.4770C>G (p.Asn1590Lys) c.4905C>G (p.Asn1635Lys) c.4869C>G (p.Asn1623Lys) c.4995C>G (p.Asn1665Lys) c.4923C>G (p.Asn1641Lys) c.4911C>G (p.Asn1637Lys) | |
| X | g.108157132G= | CA2450541960 | COL4A6 | c.4941C= (p.Asn1647=) c.4944C= (p.Asn1648=) c.4992C= (p.Asn1664=) c.4770C= (p.Asn1590=) c.4905C= (p.Asn1635=) c.4869C= (p.Asn1623=) c.4995C= (p.Asn1665=) c.4923C= (p.Asn1641=) c.4911C= (p.Asn1637=) | |
| X | g.108157132G>T | CA413848284 | COL4A6 | c.4941C>A (p.Asn1647Lys) c.4944C>A (p.Asn1648Lys) c.4992C>A (p.Asn1664Lys) c.4770C>A (p.Asn1590Lys) c.4905C>A (p.Asn1635Lys) c.4869C>A (p.Asn1623Lys) c.4995C>A (p.Asn1665Lys) c.4923C>A (p.Asn1641Lys) c.4911C>A (p.Asn1637Lys) | |
| X | g.108157133T>A | CA413848286 | COL4A6 | c.4940A>T (p.Asn1647Ile) c.4943A>T (p.Asn1648Ile) c.4991A>T (p.Asn1664Ile) c.4769A>T (p.Asn1590Ile) c.4904A>T (p.Asn1635Ile) c.4868A>T (p.Asn1623Ile) c.4994A>T (p.Asn1665Ile) c.4922A>T (p.Asn1641Ile) c.4910A>T (p.Asn1637Ile) | |
| X | g.108157133T>C | CA413848287 | COL4A6 | c.4940A>G (p.Asn1647Ser) c.4943A>G (p.Asn1648Ser) c.4991A>G (p.Asn1664Ser) c.4769A>G (p.Asn1590Ser) c.4904A>G (p.Asn1635Ser) c.4868A>G (p.Asn1623Ser) c.4994A>G (p.Asn1665Ser) c.4922A>G (p.Asn1641Ser) c.4910A>G (p.Asn1637Ser) | |
| X | g.108157133T>G | CA413848288 | COL4A6 | c.4940A>C (p.Asn1647Thr) c.4943A>C (p.Asn1648Thr) c.4991A>C (p.Asn1664Thr) c.4769A>C (p.Asn1590Thr) c.4904A>C (p.Asn1635Thr) c.4868A>C (p.Asn1623Thr) c.4994A>C (p.Asn1665Thr) c.4922A>C (p.Asn1641Thr) c.4910A>C (p.Asn1637Thr) | |
| X | g.108157134T>A | CA413848289 | COL4A6 | c.4939A>T (p.Asn1647Tyr) c.4942A>T (p.Asn1648Tyr) c.4990A>T (p.Asn1664Tyr) c.4768A>T (p.Asn1590Tyr) c.4903A>T (p.Asn1635Tyr) c.4867A>T (p.Asn1623Tyr) c.4993A>T (p.Asn1665Tyr) c.4921A>T (p.Asn1641Tyr) c.4909A>T (p.Asn1637Tyr) | |
| X | g.108157134T>C | CA413848290 | COL4A6 | c.4939A>G (p.Asn1647Asp) c.4942A>G (p.Asn1648Asp) c.4990A>G (p.Asn1664Asp) c.4768A>G (p.Asn1590Asp) c.4903A>G (p.Asn1635Asp) c.4867A>G (p.Asn1623Asp) c.4993A>G (p.Asn1665Asp) c.4921A>G (p.Asn1641Asp) c.4909A>G (p.Asn1637Asp) | |
| X | g.108157134T>G | CA413848291 | COL4A6 | c.4939A>C (p.Asn1647His) c.4942A>C (p.Asn1648His) c.4990A>C (p.Asn1664His) c.4768A>C (p.Asn1590His) c.4903A>C (p.Asn1635His) c.4867A>C (p.Asn1623His) c.4993A>C (p.Asn1665His) c.4921A>C (p.Asn1641His) c.4909A>C (p.Asn1637His) | |
| X | g.108157135T>A | CA518100806 | COL4A6 | c.4938A>T (p.Ala1646=) c.4941A>T (p.Ala1647=) c.4989A>T (p.Ala1663=) c.4767A>T (p.Ala1589=) c.4902A>T (p.Ala1634=) c.4866A>T (p.Ala1622=) c.4992A>T (p.Ala1664=) c.4920A>T (p.Ala1640=) c.4908A>T (p.Ala1636=) | |
| X | g.108157135T>C | CA518100805 | COL4A6 | c.4938A>G (p.Ala1646=) c.4941A>G (p.Ala1647=) c.4989A>G (p.Ala1663=) c.4767A>G (p.Ala1589=) c.4902A>G (p.Ala1634=) c.4866A>G (p.Ala1622=) c.4992A>G (p.Ala1664=) c.4920A>G (p.Ala1640=) c.4908A>G (p.Ala1636=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157135T>G | CA518100804 | COL4A6 | c.4938A>C (p.Ala1646=) c.4941A>C (p.Ala1647=) c.4989A>C (p.Ala1663=) c.4767A>C (p.Ala1589=) c.4902A>C (p.Ala1634=) c.4866A>C (p.Ala1622=) c.4992A>C (p.Ala1664=) c.4920A>C (p.Ala1640=) c.4908A>C (p.Ala1636=) | |
| X | g.108157135T= | CA2450541961 | COL4A6 | c.4938A= (p.Ala1646=) c.4941A= (p.Ala1647=) c.4989A= (p.Ala1663=) c.4767A= (p.Ala1589=) c.4902A= (p.Ala1634=) c.4866A= (p.Ala1622=) c.4992A= (p.Ala1664=) c.4920A= (p.Ala1640=) c.4908A= (p.Ala1636=) | |
| X | g.108157136G>A | CA413848294 | COL4A6 | c.4937C>T (p.Ala1646Val) c.4940C>T (p.Ala1647Val) c.4988C>T (p.Ala1663Val) c.4766C>T (p.Ala1589Val) c.4901C>T (p.Ala1634Val) c.4865C>T (p.Ala1622Val) c.4991C>T (p.Ala1664Val) c.4919C>T (p.Ala1640Val) c.4907C>T (p.Ala1636Val) | gnomAD v4 |
| X | g.108157136G>C | CA413848292 | COL4A6 | c.4937C>G (p.Ala1646Gly) c.4940C>G (p.Ala1647Gly) c.4988C>G (p.Ala1663Gly) c.4766C>G (p.Ala1589Gly) c.4901C>G (p.Ala1634Gly) c.4865C>G (p.Ala1622Gly) c.4991C>G (p.Ala1664Gly) c.4919C>G (p.Ala1640Gly) c.4907C>G (p.Ala1636Gly) | |
| X | g.108157136G>T | CA413848293 | COL4A6 | c.4937C>A (p.Ala1646Glu) c.4940C>A (p.Ala1647Glu) c.4988C>A (p.Ala1663Glu) c.4766C>A (p.Ala1589Glu) c.4901C>A (p.Ala1634Glu) c.4865C>A (p.Ala1622Glu) c.4991C>A (p.Ala1664Glu) c.4919C>A (p.Ala1640Glu) c.4907C>A (p.Ala1636Glu) | |
| X | g.108157137C>A | CA413848295 | COL4A6 | c.4936G>T (p.Ala1646Ser) c.4939G>T (p.Ala1647Ser) c.4987G>T (p.Ala1663Ser) c.4765G>T (p.Ala1589Ser) c.4900G>T (p.Ala1634Ser) c.4864G>T (p.Ala1622Ser) c.4990G>T (p.Ala1664Ser) c.4918G>T (p.Ala1640Ser) c.4906G>T (p.Ala1636Ser) | |
| X | g.108157137C>G | CA413848296 | COL4A6 | c.4936G>C (p.Ala1646Pro) c.4939G>C (p.Ala1647Pro) c.4987G>C (p.Ala1663Pro) c.4765G>C (p.Ala1589Pro) c.4900G>C (p.Ala1634Pro) c.4864G>C (p.Ala1622Pro) c.4990G>C (p.Ala1664Pro) c.4918G>C (p.Ala1640Pro) c.4906G>C (p.Ala1636Pro) | |
| X | g.108157137C>T | CA413848297 | COL4A6 | c.4936G>A (p.Ala1646Thr) c.4939G>A (p.Ala1647Thr) c.4987G>A (p.Ala1663Thr) c.4765G>A (p.Ala1589Thr) c.4900G>A (p.Ala1634Thr) c.4864G>A (p.Ala1622Thr) c.4990G>A (p.Ala1664Thr) c.4918G>A (p.Ala1640Thr) c.4906G>A (p.Ala1636Thr) | |
| X | g.108157138A>C | CA413848298 | COL4A6 | c.4935T>G (p.Phe1645Leu) c.4938T>G (p.Phe1646Leu) c.4986T>G (p.Phe1662Leu) c.4764T>G (p.Phe1588Leu) c.4899T>G (p.Phe1633Leu) c.4863T>G (p.Phe1621Leu) c.4989T>G (p.Phe1663Leu) c.4917T>G (p.Phe1639Leu) c.4905T>G (p.Phe1635Leu) | |
| X | g.108157138A>G | CA518100807 | COL4A6 | c.4935T>C (p.Phe1645=) c.4938T>C (p.Phe1646=) c.4986T>C (p.Phe1662=) c.4764T>C (p.Phe1588=) c.4899T>C (p.Phe1633=) c.4863T>C (p.Phe1621=) c.4989T>C (p.Phe1663=) c.4917T>C (p.Phe1639=) c.4905T>C (p.Phe1635=) | |
| X | g.108157138A>T | CA413848299 | COL4A6 | c.4935T>A (p.Phe1645Leu) c.4938T>A (p.Phe1646Leu) c.4986T>A (p.Phe1662Leu) c.4764T>A (p.Phe1588Leu) c.4899T>A (p.Phe1633Leu) c.4863T>A (p.Phe1621Leu) c.4989T>A (p.Phe1663Leu) c.4917T>A (p.Phe1639Leu) c.4905T>A (p.Phe1635Leu) | |
| X | g.108157139A= | CA2450541962 | COL4A6 | c.4934T= (p.Phe1645=) c.4937T= (p.Phe1646=) c.4985T= (p.Phe1662=) c.4763T= (p.Phe1588=) c.4898T= (p.Phe1633=) c.4862T= (p.Phe1621=) c.4988T= (p.Phe1663=) c.4916T= (p.Phe1639=) c.4904T= (p.Phe1635=) | |
| X | g.108157139A>C | CA413848301 | COL4A6 | c.4934T>G (p.Phe1645Cys) c.4937T>G (p.Phe1646Cys) c.4985T>G (p.Phe1662Cys) c.4763T>G (p.Phe1588Cys) c.4898T>G (p.Phe1633Cys) c.4862T>G (p.Phe1621Cys) c.4988T>G (p.Phe1663Cys) c.4916T>G (p.Phe1639Cys) c.4904T>G (p.Phe1635Cys) | |
| X | g.108157139A>G | CA10487083 | COL4A6 | c.4934T>C (p.Phe1645Ser) c.4937T>C (p.Phe1646Ser) c.4985T>C (p.Phe1662Ser) c.4763T>C (p.Phe1588Ser) c.4898T>C (p.Phe1633Ser) c.4862T>C (p.Phe1621Ser) c.4988T>C (p.Phe1663Ser) c.4916T>C (p.Phe1639Ser) c.4904T>C (p.Phe1635Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.108157139A>T | CA413848300 | COL4A6 | c.4934T>A (p.Phe1645Tyr) c.4937T>A (p.Phe1646Tyr) c.4985T>A (p.Phe1662Tyr) c.4763T>A (p.Phe1588Tyr) c.4898T>A (p.Phe1633Tyr) c.4862T>A (p.Phe1621Tyr) c.4988T>A (p.Phe1663Tyr) c.4916T>A (p.Phe1639Tyr) c.4904T>A (p.Phe1635Tyr) | |
| X | g.108157140A= | CA2450541963 | COL4A6 | c.4933T= (p.Phe1645=) c.4936T= (p.Phe1646=) c.4984T= (p.Phe1662=) c.4762T= (p.Phe1588=) c.4897T= (p.Phe1633=) c.4861T= (p.Phe1621=) c.4987T= (p.Phe1663=) c.4915T= (p.Phe1639=) c.4903T= (p.Phe1635=) | |
| X | g.108157140A>C | CA413848302 | COL4A6 | c.4933T>G (p.Phe1645Val) c.4936T>G (p.Phe1646Val) c.4984T>G (p.Phe1662Val) c.4762T>G (p.Phe1588Val) c.4897T>G (p.Phe1633Val) c.4861T>G (p.Phe1621Val) c.4987T>G (p.Phe1663Val) c.4915T>G (p.Phe1639Val) c.4903T>G (p.Phe1635Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157140A>G | CA413848303 | COL4A6 | c.4933T>C (p.Phe1645Leu) c.4936T>C (p.Phe1646Leu) c.4984T>C (p.Phe1662Leu) c.4762T>C (p.Phe1588Leu) c.4897T>C (p.Phe1633Leu) c.4861T>C (p.Phe1621Leu) c.4987T>C (p.Phe1663Leu) c.4915T>C (p.Phe1639Leu) c.4903T>C (p.Phe1635Leu) | |
| X | g.108157140A>T | CA413848304 | COL4A6 | c.4933T>A (p.Phe1645Ile) c.4936T>A (p.Phe1646Ile) c.4984T>A (p.Phe1662Ile) c.4762T>A (p.Phe1588Ile) c.4897T>A (p.Phe1633Ile) c.4861T>A (p.Phe1621Ile) c.4987T>A (p.Phe1663Ile) c.4915T>A (p.Phe1639Ile) c.4903T>A (p.Phe1635Ile) | |
| X | g.108157141G>A | CA518100808 | COL4A6 | c.4932C>T (p.Tyr1644=) c.4935C>T (p.Tyr1645=) c.4983C>T (p.Tyr1661=) c.4761C>T (p.Tyr1587=) c.4896C>T (p.Tyr1632=) c.4860C>T (p.Tyr1620=) c.4986C>T (p.Tyr1662=) c.4914C>T (p.Tyr1638=) c.4902C>T (p.Tyr1634=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157141G>C | CA413848305 | COL4A6 | c.4932C>G (p.Tyr1644Ter) c.4935C>G (p.Tyr1645Ter) c.4983C>G (p.Tyr1661Ter) c.4761C>G (p.Tyr1587Ter) c.4896C>G (p.Tyr1632Ter) c.4860C>G (p.Tyr1620Ter) c.4986C>G (p.Tyr1662Ter) c.4914C>G (p.Tyr1638Ter) c.4902C>G (p.Tyr1634Ter) | |
| X | g.108157141G= | CA2450541964 | COL4A6 | c.4932C= (p.Tyr1644=) c.4935C= (p.Tyr1645=) c.4983C= (p.Tyr1661=) c.4761C= (p.Tyr1587=) c.4896C= (p.Tyr1632=) c.4860C= (p.Tyr1620=) c.4986C= (p.Tyr1662=) c.4914C= (p.Tyr1638=) c.4902C= (p.Tyr1634=) | |
| X | g.108157141G>T | CA413848306 | COL4A6 | c.4932C>A (p.Tyr1644Ter) c.4935C>A (p.Tyr1645Ter) c.4983C>A (p.Tyr1661Ter) c.4761C>A (p.Tyr1587Ter) c.4896C>A (p.Tyr1632Ter) c.4860C>A (p.Tyr1620Ter) c.4986C>A (p.Tyr1662Ter) c.4914C>A (p.Tyr1638Ter) c.4902C>A (p.Tyr1634Ter) | dbSNP |
| X | g.108157142T>A | CA413848307 | COL4A6 | c.4931A>T (p.Tyr1644Phe) c.4934A>T (p.Tyr1645Phe) c.4982A>T (p.Tyr1661Phe) c.4760A>T (p.Tyr1587Phe) c.4895A>T (p.Tyr1632Phe) c.4859A>T (p.Tyr1620Phe) c.4985A>T (p.Tyr1662Phe) c.4913A>T (p.Tyr1638Phe) c.4901A>T (p.Tyr1634Phe) | |
| X | g.108157142T>C | CA413848309 | COL4A6 | c.4931A>G (p.Tyr1644Cys) c.4934A>G (p.Tyr1645Cys) c.4982A>G (p.Tyr1661Cys) c.4760A>G (p.Tyr1587Cys) c.4895A>G (p.Tyr1632Cys) c.4859A>G (p.Tyr1620Cys) c.4985A>G (p.Tyr1662Cys) c.4913A>G (p.Tyr1638Cys) c.4901A>G (p.Tyr1634Cys) | gnomAD v4 |
| X | g.108157142T>G | CA413848310 | COL4A6 | c.4931A>C (p.Tyr1644Ser) c.4934A>C (p.Tyr1645Ser) c.4982A>C (p.Tyr1661Ser) c.4760A>C (p.Tyr1587Ser) c.4895A>C (p.Tyr1632Ser) c.4859A>C (p.Tyr1620Ser) c.4985A>C (p.Tyr1662Ser) c.4913A>C (p.Tyr1638Ser) c.4901A>C (p.Tyr1634Ser) | |
| X | g.108157143A>C | CA413848312 | COL4A6 | c.4930T>G (p.Tyr1644Asp) c.4933T>G (p.Tyr1645Asp) c.4981T>G (p.Tyr1661Asp) c.4759T>G (p.Tyr1587Asp) c.4894T>G (p.Tyr1632Asp) c.4858T>G (p.Tyr1620Asp) c.4984T>G (p.Tyr1662Asp) c.4912T>G (p.Tyr1638Asp) c.4900T>G (p.Tyr1634Asp) | |
| X | g.108157143A>G | CA413848314 | COL4A6 | c.4930T>C (p.Tyr1644His) c.4933T>C (p.Tyr1645His) c.4981T>C (p.Tyr1661His) c.4759T>C (p.Tyr1587His) c.4894T>C (p.Tyr1632His) c.4858T>C (p.Tyr1620His) c.4984T>C (p.Tyr1662His) c.4912T>C (p.Tyr1638His) c.4900T>C (p.Tyr1634His) | |
| X | g.108157143A>T | CA413848315 | COL4A6 | c.4930T>A (p.Tyr1644Asn) c.4933T>A (p.Tyr1645Asn) c.4981T>A (p.Tyr1661Asn) c.4759T>A (p.Tyr1587Asn) c.4894T>A (p.Tyr1632Asn) c.4858T>A (p.Tyr1620Asn) c.4984T>A (p.Tyr1662Asn) c.4912T>A (p.Tyr1638Asn) c.4900T>A (p.Tyr1634Asn) | |
| X | g.108157144G>A | CA518100809 | COL4A6 | c.4929C>T (p.His1643=) c.4932C>T (p.His1644=) c.4980C>T (p.His1660=) c.4758C>T (p.His1586=) c.4893C>T (p.His1631=) c.4857C>T (p.His1619=) c.4983C>T (p.His1661=) c.4911C>T (p.His1637=) c.4899C>T (p.His1633=) | |
| X | g.108157144G>C | CA413848317 | COL4A6 | c.4929C>G (p.His1643Gln) c.4932C>G (p.His1644Gln) c.4980C>G (p.His1660Gln) c.4758C>G (p.His1586Gln) c.4893C>G (p.His1631Gln) c.4857C>G (p.His1619Gln) c.4983C>G (p.His1661Gln) c.4911C>G (p.His1637Gln) c.4899C>G (p.His1633Gln) | |
| X | g.108157144G>T | CA413848318 | COL4A6 | c.4929C>A (p.His1643Gln) c.4932C>A (p.His1644Gln) c.4980C>A (p.His1660Gln) c.4758C>A (p.His1586Gln) c.4893C>A (p.His1631Gln) c.4857C>A (p.His1619Gln) c.4983C>A (p.His1661Gln) c.4911C>A (p.His1637Gln) c.4899C>A (p.His1633Gln) | |
| X | g.108157145T>A | CA413848324 | COL4A6 | c.4928A>T (p.His1643Leu) c.4931A>T (p.His1644Leu) c.4979A>T (p.His1660Leu) c.4757A>T (p.His1586Leu) c.4892A>T (p.His1631Leu) c.4856A>T (p.His1619Leu) c.4982A>T (p.His1661Leu) c.4910A>T (p.His1637Leu) c.4898A>T (p.His1633Leu) | |
| X | g.108157145T>C | CA413848320 | COL4A6 | c.4928A>G (p.His1643Arg) c.4931A>G (p.His1644Arg) c.4979A>G (p.His1660Arg) c.4757A>G (p.His1586Arg) c.4892A>G (p.His1631Arg) c.4856A>G (p.His1619Arg) c.4982A>G (p.His1661Arg) c.4910A>G (p.His1637Arg) c.4898A>G (p.His1633Arg) | |
| X | g.108157145T>G | CA413848322 | COL4A6 | c.4928A>C (p.His1643Pro) c.4931A>C (p.His1644Pro) c.4979A>C (p.His1660Pro) c.4757A>C (p.His1586Pro) c.4892A>C (p.His1631Pro) c.4856A>C (p.His1619Pro) c.4982A>C (p.His1661Pro) c.4910A>C (p.His1637Pro) c.4898A>C (p.His1633Pro) | |
| X | g.108157145T= | CA2450541965 | COL4A6 | c.4928A= (p.His1643=) c.4931A= (p.His1644=) c.4979A= (p.His1660=) c.4757A= (p.His1586=) c.4892A= (p.His1631=) c.4856A= (p.His1619=) c.4982A= (p.His1661=) c.4910A= (p.His1637=) c.4898A= (p.His1633=) | |
| X | g.108157146G>A | CA413848326 | COL4A6 | c.4927C>T (p.His1643Tyr) c.4930C>T (p.His1644Tyr) c.4978C>T (p.His1660Tyr) c.4756C>T (p.His1586Tyr) c.4891C>T (p.His1631Tyr) c.4855C>T (p.His1619Tyr) c.4981C>T (p.His1661Tyr) c.4909C>T (p.His1637Tyr) c.4897C>T (p.His1633Tyr) | |
| X | g.108157146G>C | CA413848328 | COL4A6 | c.4927C>G (p.His1643Asp) c.4930C>G (p.His1644Asp) c.4978C>G (p.His1660Asp) c.4756C>G (p.His1586Asp) c.4891C>G (p.His1631Asp) c.4855C>G (p.His1619Asp) c.4981C>G (p.His1661Asp) c.4909C>G (p.His1637Asp) c.4897C>G (p.His1633Asp) | |
| X | g.108157146G>T | CA413848329 | COL4A6 | c.4927C>A (p.His1643Asn) c.4930C>A (p.His1644Asn) c.4978C>A (p.His1660Asn) c.4756C>A (p.His1586Asn) c.4891C>A (p.His1631Asn) c.4855C>A (p.His1619Asn) c.4981C>A (p.His1661Asn) c.4909C>A (p.His1637Asn) c.4897C>A (p.His1633Asn) | |
| X | g.108157147dup | CA2450541966 | COL4A6 | c.4927dup (p.His1643ProfsTer27) c.4930dup (p.His1644ProfsTer27) c.4978dup (p.His1660ProfsTer27) c.4756dup (p.His1586ProfsTer27) c.4891dup (p.His1631ProfsTer27) c.4855dup (p.His1619ProfsTer27) c.4981dup (p.His1661ProfsTer27) c.4909dup (p.His1637ProfsTer27) c.4897dup (p.His1633ProfsTer27) | dbSNP |
| X | g.108157147G>A | CA518100810 | COL4A6 | c.4926C>T (p.Cys1642=) c.4929C>T (p.Cys1643=) c.4977C>T (p.Cys1659=) c.4755C>T (p.Cys1585=) c.4890C>T (p.Cys1630=) c.4854C>T (p.Cys1618=) c.4980C>T (p.Cys1660=) c.4908C>T (p.Cys1636=) c.4896C>T (p.Cys1632=) | |
| X | g.108157147G>C | CA413848331 | COL4A6 | c.4926C>G (p.Cys1642Trp) c.4929C>G (p.Cys1643Trp) c.4977C>G (p.Cys1659Trp) c.4755C>G (p.Cys1585Trp) c.4890C>G (p.Cys1630Trp) c.4854C>G (p.Cys1618Trp) c.4980C>G (p.Cys1660Trp) c.4908C>G (p.Cys1636Trp) c.4896C>G (p.Cys1632Trp) | |
| X | g.108157147G>T | CA413848333 | COL4A6 | c.4926C>A (p.Cys1642Ter) c.4929C>A (p.Cys1643Ter) c.4977C>A (p.Cys1659Ter) c.4755C>A (p.Cys1585Ter) c.4890C>A (p.Cys1630Ter) c.4854C>A (p.Cys1618Ter) c.4980C>A (p.Cys1660Ter) c.4908C>A (p.Cys1636Ter) c.4896C>A (p.Cys1632Ter) | |
| X | g.108157148C>A | CA413848338 | COL4A6 | c.4925G>T (p.Cys1642Phe) c.4928G>T (p.Cys1643Phe) c.4976G>T (p.Cys1659Phe) c.4754G>T (p.Cys1585Phe) c.4889G>T (p.Cys1630Phe) c.4853G>T (p.Cys1618Phe) c.4979G>T (p.Cys1660Phe) c.4907G>T (p.Cys1636Phe) c.4895G>T (p.Cys1632Phe) | |
| X | g.108157148C>G | CA413848337 | COL4A6 | c.4925G>C (p.Cys1642Ser) c.4928G>C (p.Cys1643Ser) c.4976G>C (p.Cys1659Ser) c.4754G>C (p.Cys1585Ser) c.4889G>C (p.Cys1630Ser) c.4853G>C (p.Cys1618Ser) c.4979G>C (p.Cys1660Ser) c.4907G>C (p.Cys1636Ser) c.4895G>C (p.Cys1632Ser) | |
| X | g.108157148C>T | CA413848335 | COL4A6 | c.4925G>A (p.Cys1642Tyr) c.4928G>A (p.Cys1643Tyr) c.4976G>A (p.Cys1659Tyr) c.4754G>A (p.Cys1585Tyr) c.4889G>A (p.Cys1630Tyr) c.4853G>A (p.Cys1618Tyr) c.4979G>A (p.Cys1660Tyr) c.4907G>A (p.Cys1636Tyr) c.4895G>A (p.Cys1632Tyr) | |
| X | g.108157149A= | CA2450541967 | COL4A6 | c.4924T= (p.Cys1642=) c.4927T= (p.Cys1643=) c.4975T= (p.Cys1659=) c.4753T= (p.Cys1585=) c.4888T= (p.Cys1630=) c.4852T= (p.Cys1618=) c.4978T= (p.Cys1660=) c.4906T= (p.Cys1636=) c.4894T= (p.Cys1632=) | |
| X | g.108157149A>C | CA413848340 | COL4A6 | c.4924T>G (p.Cys1642Gly) c.4927T>G (p.Cys1643Gly) c.4975T>G (p.Cys1659Gly) c.4753T>G (p.Cys1585Gly) c.4888T>G (p.Cys1630Gly) c.4852T>G (p.Cys1618Gly) c.4978T>G (p.Cys1660Gly) c.4906T>G (p.Cys1636Gly) c.4894T>G (p.Cys1632Gly) | |
| X | g.108157149A>G | CA413848341 | COL4A6 | c.4924T>C (p.Cys1642Arg) c.4927T>C (p.Cys1643Arg) c.4975T>C (p.Cys1659Arg) c.4753T>C (p.Cys1585Arg) c.4888T>C (p.Cys1630Arg) c.4852T>C (p.Cys1618Arg) c.4978T>C (p.Cys1660Arg) c.4906T>C (p.Cys1636Arg) c.4894T>C (p.Cys1632Arg) | |
| X | g.108157149A>T | CA413848343 | COL4A6 | c.4924T>A (p.Cys1642Ser) c.4927T>A (p.Cys1643Ser) c.4975T>A (p.Cys1659Ser) c.4753T>A (p.Cys1585Ser) c.4888T>A (p.Cys1630Ser) c.4852T>A (p.Cys1618Ser) c.4978T>A (p.Cys1660Ser) c.4906T>A (p.Cys1636Ser) c.4894T>A (p.Cys1632Ser) | |
| X | g.108157150G>A | CA518100811 | COL4A6 | c.4923C>T (p.Thr1641=) c.4926C>T (p.Thr1642=) c.4974C>T (p.Thr1658=) c.4752C>T (p.Thr1584=) c.4887C>T (p.Thr1629=) c.4851C>T (p.Thr1617=) c.4977C>T (p.Thr1659=) c.4905C>T (p.Thr1635=) c.4893C>T (p.Thr1631=) | |
| X | g.108157150G>C | CA518100812 | COL4A6 | c.4923C>G (p.Thr1641=) c.4926C>G (p.Thr1642=) c.4974C>G (p.Thr1658=) c.4752C>G (p.Thr1584=) c.4887C>G (p.Thr1629=) c.4851C>G (p.Thr1617=) c.4977C>G (p.Thr1659=) c.4905C>G (p.Thr1635=) c.4893C>G (p.Thr1631=) | |
| X | g.108157150G>T | CA518100813 | COL4A6 | c.4923C>A (p.Thr1641=) c.4926C>A (p.Thr1642=) c.4974C>A (p.Thr1658=) c.4752C>A (p.Thr1584=) c.4887C>A (p.Thr1629=) c.4851C>A (p.Thr1617=) c.4977C>A (p.Thr1659=) c.4905C>A (p.Thr1635=) c.4893C>A (p.Thr1631=) | |
| X | g.108157151dup | CA2450541968 | COL4A6 | c.4923dup (p.Cys1642LeufsTer28) c.4926dup (p.Cys1643LeufsTer28) c.4974dup (p.Cys1659LeufsTer28) c.4752dup (p.Cys1585LeufsTer28) c.4887dup (p.Cys1630LeufsTer28) c.4851dup (p.Cys1618LeufsTer28) c.4977dup (p.Cys1660LeufsTer28) c.4905dup (p.Cys1636LeufsTer28) c.4893dup (p.Cys1632LeufsTer28) | dbSNP |
| X | g.108157151G>A | CA413848345 | COL4A6 | c.4922C>T (p.Thr1641Ile) c.4925C>T (p.Thr1642Ile) c.4973C>T (p.Thr1658Ile) c.4751C>T (p.Thr1584Ile) c.4886C>T (p.Thr1629Ile) c.4850C>T (p.Thr1617Ile) c.4976C>T (p.Thr1659Ile) c.4904C>T (p.Thr1635Ile) c.4892C>T (p.Thr1631Ile) | gnomAD v4 |
| X | g.108157151G>C | CA413848347 | COL4A6 | c.4922C>G (p.Thr1641Ser) c.4925C>G (p.Thr1642Ser) c.4973C>G (p.Thr1658Ser) c.4751C>G (p.Thr1584Ser) c.4886C>G (p.Thr1629Ser) c.4850C>G (p.Thr1617Ser) c.4976C>G (p.Thr1659Ser) c.4904C>G (p.Thr1635Ser) c.4892C>G (p.Thr1631Ser) | |
| X | g.108157151G>T | CA413848348 | COL4A6 | c.4922C>A (p.Thr1641Asn) c.4925C>A (p.Thr1642Asn) c.4973C>A (p.Thr1658Asn) c.4751C>A (p.Thr1584Asn) c.4886C>A (p.Thr1629Asn) c.4850C>A (p.Thr1617Asn) c.4976C>A (p.Thr1659Asn) c.4904C>A (p.Thr1635Asn) c.4892C>A (p.Thr1631Asn) | |
| X | g.108157151_108157157delinsGTGCCTC | CA2450541969 | COL4A6 | c.4916_4922delinsGAGGCAC (p.Arg1639=) c.4919_4925delinsGAGGCAC (p.Arg1640=) c.4967_4973delinsGAGGCAC (p.Arg1656=) c.4745_4751delinsGAGGCAC (p.Arg1582=) c.4880_4886delinsGAGGCAC (p.Arg1627=) c.4844_4850delinsGAGGCAC (p.Arg1615=) c.4970_4976delinsGAGGCAC (p.Arg1657=) c.4898_4904delinsGAGGCAC (p.Arg1633=) c.4886_4892delinsGAGGCAC (p.Arg1629=) | |
| X | g.108157152del | CA644063396 | COL4A6 | c.4921del (p.Thr1641ProfsTer13) c.4924del (p.Thr1642ProfsTer13) c.4972del (p.Thr1658ProfsTer13) c.4750del (p.Thr1584ProfsTer13) c.4885del (p.Thr1629ProfsTer13) c.4849del (p.Thr1617ProfsTer13) c.4975del (p.Thr1659ProfsTer13) c.4903del (p.Thr1635ProfsTer13) c.4891del (p.Thr1631ProfsTer13) | gnomAD v2 |
| X | g.108157152T>A | CA413848355 | COL4A6 | c.4921A>T (p.Thr1641Ser) c.4924A>T (p.Thr1642Ser) c.4972A>T (p.Thr1658Ser) c.4750A>T (p.Thr1584Ser) c.4885A>T (p.Thr1629Ser) c.4849A>T (p.Thr1617Ser) c.4975A>T (p.Thr1659Ser) c.4903A>T (p.Thr1635Ser) c.4891A>T (p.Thr1631Ser) | |
| X | g.108157152T>C | CA413848351 | COL4A6 | c.4921A>G (p.Thr1641Ala) c.4924A>G (p.Thr1642Ala) c.4972A>G (p.Thr1658Ala) c.4750A>G (p.Thr1584Ala) c.4885A>G (p.Thr1629Ala) c.4849A>G (p.Thr1617Ala) c.4975A>G (p.Thr1659Ala) c.4903A>G (p.Thr1635Ala) c.4891A>G (p.Thr1631Ala) | |
| X | g.108157152T>G | CA10487085 | COL4A6 | c.4921A>C (p.Thr1641Pro) c.4924A>C (p.Thr1642Pro) c.4972A>C (p.Thr1658Pro) c.4750A>C (p.Thr1584Pro) c.4885A>C (p.Thr1629Pro) c.4849A>C (p.Thr1617Pro) c.4975A>C (p.Thr1659Pro) c.4903A>C (p.Thr1635Pro) c.4891A>C (p.Thr1631Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157152T= | CA2450541970 | COL4A6 | c.4921A= (p.Thr1641=) c.4924A= (p.Thr1642=) c.4972A= (p.Thr1658=) c.4750A= (p.Thr1584=) c.4885A= (p.Thr1629=) c.4849A= (p.Thr1617=) c.4975A= (p.Thr1659=) c.4903A= (p.Thr1635=) c.4891A= (p.Thr1631=) | |
| X | g.108157152_108157157del | CA10487084 | COL4A6 | c.4916_4921del (p.Arg1639_Thr1641delinsPro) c.4919_4924del (p.Arg1640_Thr1642delinsPro) c.4967_4972del (p.Arg1656_Thr1658delinsPro) c.4745_4750del (p.Arg1582_Thr1584delinsPro) c.4880_4885del (p.Arg1627_Thr1629delinsPro) c.4844_4849del (p.Arg1615_Thr1617delinsPro) c.4970_4975del (p.Arg1657_Thr1659delinsPro) c.4898_4903del (p.Arg1633_Thr1635delinsPro) c.4886_4891del (p.Arg1629_Thr1631delinsPro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157153G>A | CA518100814 | COL4A6 | c.4920C>T (p.Gly1640=) c.4923C>T (p.Gly1641=) c.4971C>T (p.Gly1657=) c.4749C>T (p.Gly1583=) c.4884C>T (p.Gly1628=) c.4848C>T (p.Gly1616=) c.4974C>T (p.Gly1658=) c.4902C>T (p.Gly1634=) c.4890C>T (p.Gly1630=) | |
| X | g.108157153G>C | CA518100815 | COL4A6 | c.4920C>G (p.Gly1640=) c.4923C>G (p.Gly1641=) c.4971C>G (p.Gly1657=) c.4749C>G (p.Gly1583=) c.4884C>G (p.Gly1628=) c.4848C>G (p.Gly1616=) c.4974C>G (p.Gly1658=) c.4902C>G (p.Gly1634=) c.4890C>G (p.Gly1630=) | |
| X | g.108157153G>T | CA518100816 | COL4A6 | c.4920C>A (p.Gly1640=) c.4923C>A (p.Gly1641=) c.4971C>A (p.Gly1657=) c.4749C>A (p.Gly1583=) c.4884C>A (p.Gly1628=) c.4848C>A (p.Gly1616=) c.4974C>A (p.Gly1658=) c.4902C>A (p.Gly1634=) c.4890C>A (p.Gly1630=) | |
| X | g.108157153_108157157delinsGCCTC | CA2450541971 | COL4A6 | c.4916_4920delinsGAGGC (p.Arg1639=) c.4919_4923delinsGAGGC (p.Arg1640=) c.4967_4971delinsGAGGC (p.Arg1656=) c.4745_4749delinsGAGGC (p.Arg1582=) c.4880_4884delinsGAGGC (p.Arg1627=) c.4844_4848delinsGAGGC (p.Arg1615=) c.4970_4974delinsGAGGC (p.Arg1657=) c.4898_4902delinsGAGGC (p.Arg1633=) c.4886_4890delinsGAGGC (p.Arg1629=) | |
| X | g.108157154C>A | CA413848357 | COL4A6 | c.4919G>T (p.Gly1640Val) c.4922G>T (p.Gly1641Val) c.4970G>T (p.Gly1657Val) c.4748G>T (p.Gly1583Val) c.4883G>T (p.Gly1628Val) c.4847G>T (p.Gly1616Val) c.4973G>T (p.Gly1658Val) c.4901G>T (p.Gly1634Val) c.4889G>T (p.Gly1630Val) | |
| X | g.108157154C= | CA2450541972 | COL4A6 | c.4919G= (p.Gly1640=) c.4922G= (p.Gly1641=) c.4970G= (p.Gly1657=) c.4748G= (p.Gly1583=) c.4883G= (p.Gly1628=) c.4847G= (p.Gly1616=) c.4973G= (p.Gly1658=) c.4901G= (p.Gly1634=) c.4889G= (p.Gly1630=) | |
| X | g.108157154C>G | CA10487087 | COL4A6 | c.4919G>C (p.Gly1640Ala) c.4922G>C (p.Gly1641Ala) c.4970G>C (p.Gly1657Ala) c.4748G>C (p.Gly1583Ala) c.4883G>C (p.Gly1628Ala) c.4847G>C (p.Gly1616Ala) c.4973G>C (p.Gly1658Ala) c.4901G>C (p.Gly1634Ala) c.4889G>C (p.Gly1630Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157154C>T | CA413848358 | COL4A6 | c.4919G>A (p.Gly1640Asp) c.4922G>A (p.Gly1641Asp) c.4970G>A (p.Gly1657Asp) c.4748G>A (p.Gly1583Asp) c.4883G>A (p.Gly1628Asp) c.4847G>A (p.Gly1616Asp) c.4973G>A (p.Gly1658Asp) c.4901G>A (p.Gly1634Asp) c.4889G>A (p.Gly1630Asp) | |
| X | g.108157154_108157157del | CA10487086 | COL4A6 | c.4916_4919del (p.Arg1639ProfsTer14) c.4919_4922del (p.Arg1640ProfsTer14) c.4967_4970del (p.Arg1656ProfsTer14) c.4745_4748del (p.Arg1582ProfsTer14) c.4880_4883del (p.Arg1627ProfsTer14) c.4844_4847del (p.Arg1615ProfsTer14) c.4970_4973del (p.Arg1657ProfsTer14) c.4898_4901del (p.Arg1633ProfsTer14) c.4886_4889del (p.Arg1629ProfsTer14) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157155_108157157del | CA644063397 | COL4A6 | c.4917_4919del (p.Gly1640del) c.4920_4922del (p.Gly1641del) c.4968_4970del (p.Gly1657del) c.4746_4748del (p.Gly1583del) c.4881_4883del (p.Gly1628del) c.4845_4847del (p.Gly1616del) c.4971_4973del (p.Gly1658del) c.4899_4901del (p.Gly1634del) c.4887_4889del (p.Gly1630del) | gnomAD v2 |
| X | g.108157155C>A | CA413848360 | COL4A6 | c.4918G>T (p.Gly1640Cys) c.4921G>T (p.Gly1641Cys) c.4969G>T (p.Gly1657Cys) c.4747G>T (p.Gly1583Cys) c.4882G>T (p.Gly1628Cys) c.4846G>T (p.Gly1616Cys) c.4972G>T (p.Gly1658Cys) c.4900G>T (p.Gly1634Cys) c.4888G>T (p.Gly1630Cys) | |
| X | g.108157155C= | CA2450541973 | COL4A6 | c.4918G= (p.Gly1640=) c.4921G= (p.Gly1641=) c.4969G= (p.Gly1657=) c.4747G= (p.Gly1583=) c.4882G= (p.Gly1628=) c.4846G= (p.Gly1616=) c.4972G= (p.Gly1658=) c.4900G= (p.Gly1634=) c.4888G= (p.Gly1630=) | |
| X | g.108157155C>G | CA10487089 | COL4A6 | c.4918G>C (p.Gly1640Arg) c.4921G>C (p.Gly1641Arg) c.4969G>C (p.Gly1657Arg) c.4747G>C (p.Gly1583Arg) c.4882G>C (p.Gly1628Arg) c.4846G>C (p.Gly1616Arg) c.4972G>C (p.Gly1658Arg) c.4900G>C (p.Gly1634Arg) c.4888G>C (p.Gly1630Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157155C>T | CA10487088 | COL4A6 | c.4918G>A (p.Gly1640Ser) c.4921G>A (p.Gly1641Ser) c.4969G>A (p.Gly1657Ser) c.4747G>A (p.Gly1583Ser) c.4882G>A (p.Gly1628Ser) c.4846G>A (p.Gly1616Ser) c.4972G>A (p.Gly1658Ser) c.4900G>A (p.Gly1634Ser) c.4888G>A (p.Gly1630Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157156T>A | CA518100819 | COL4A6 | c.4917A>T (p.Arg1639=) c.4920A>T (p.Arg1640=) c.4968A>T (p.Arg1656=) c.4746A>T (p.Arg1582=) c.4881A>T (p.Arg1627=) c.4845A>T (p.Arg1615=) c.4971A>T (p.Arg1657=) c.4899A>T (p.Arg1633=) c.4887A>T (p.Arg1629=) | |
| X | g.108157156T>C | CA518100818 | COL4A6 | c.4917A>G (p.Arg1639=) c.4920A>G (p.Arg1640=) c.4968A>G (p.Arg1656=) c.4746A>G (p.Arg1582=) c.4881A>G (p.Arg1627=) c.4845A>G (p.Arg1615=) c.4971A>G (p.Arg1657=) c.4899A>G (p.Arg1633=) c.4887A>G (p.Arg1629=) | gnomAD v4 |
| X | g.108157156T>G | CA518100817 | COL4A6 | c.4917A>C (p.Arg1639=) c.4920A>C (p.Arg1640=) c.4968A>C (p.Arg1656=) c.4746A>C (p.Arg1582=) c.4881A>C (p.Arg1627=) c.4845A>C (p.Arg1615=) c.4971A>C (p.Arg1657=) c.4899A>C (p.Arg1633=) c.4887A>C (p.Arg1629=) | |
| X | g.108157157C>A | CA10487090 | COL4A6 | c.4916G>T (p.Arg1639Leu) c.4919G>T (p.Arg1640Leu) c.4967G>T (p.Arg1656Leu) c.4745G>T (p.Arg1582Leu) c.4880G>T (p.Arg1627Leu) c.4844G>T (p.Arg1615Leu) c.4970G>T (p.Arg1657Leu) c.4898G>T (p.Arg1633Leu) c.4886G>T (p.Arg1629Leu) | dbSNP ExAC |
| X | g.108157157C= | CA2450541974 | COL4A6 | c.4916G= (p.Arg1639=) c.4919G= (p.Arg1640=) c.4967G= (p.Arg1656=) c.4745G= (p.Arg1582=) c.4880G= (p.Arg1627=) c.4844G= (p.Arg1615=) c.4970G= (p.Arg1657=) c.4898G= (p.Arg1633=) c.4886G= (p.Arg1629=) | |
| X | g.108157157C>G | CA413848365 | COL4A6 | c.4916G>C (p.Arg1639Pro) c.4919G>C (p.Arg1640Pro) c.4967G>C (p.Arg1656Pro) c.4745G>C (p.Arg1582Pro) c.4880G>C (p.Arg1627Pro) c.4844G>C (p.Arg1615Pro) c.4970G>C (p.Arg1657Pro) c.4898G>C (p.Arg1633Pro) c.4886G>C (p.Arg1629Pro) | |
| X | g.108157157C>T | CA10487091 | COL4A6 | c.4916G>A (p.Arg1639Gln) c.4919G>A (p.Arg1640Gln) c.4967G>A (p.Arg1656Gln) c.4745G>A (p.Arg1582Gln) c.4880G>A (p.Arg1627Gln) c.4844G>A (p.Arg1615Gln) c.4970G>A (p.Arg1657Gln) c.4898G>A (p.Arg1633Gln) c.4886G>A (p.Arg1629Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157158G>A | CA413848368 | COL4A6 | c.4915C>T (p.Arg1639Ter) c.4918C>T (p.Arg1640Ter) c.4966C>T (p.Arg1656Ter) c.4744C>T (p.Arg1582Ter) c.4879C>T (p.Arg1627Ter) c.4843C>T (p.Arg1615Ter) c.4969C>T (p.Arg1657Ter) c.4897C>T (p.Arg1633Ter) c.4885C>T (p.Arg1629Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157158G>C | CA10487092 | COL4A6 | c.4915C>G (p.Arg1639Gly) c.4918C>G (p.Arg1640Gly) c.4966C>G (p.Arg1656Gly) c.4744C>G (p.Arg1582Gly) c.4879C>G (p.Arg1627Gly) c.4843C>G (p.Arg1615Gly) c.4969C>G (p.Arg1657Gly) c.4897C>G (p.Arg1633Gly) c.4885C>G (p.Arg1629Gly) | dbSNP ExAC |
| X | g.108157158G= | CA2450541975 | COL4A6 | c.4915C= (p.Arg1639=) c.4918C= (p.Arg1640=) c.4966C= (p.Arg1656=) c.4744C= (p.Arg1582=) c.4879C= (p.Arg1627=) c.4843C= (p.Arg1615=) c.4969C= (p.Arg1657=) c.4897C= (p.Arg1633=) c.4885C= (p.Arg1629=) | |
| X | g.108157158G>T | CA518100820 | COL4A6 | c.4915C>A (p.Arg1639=) c.4918C>A (p.Arg1640=) c.4966C>A (p.Arg1656=) c.4744C>A (p.Arg1582=) c.4879C>A (p.Arg1627=) c.4843C>A (p.Arg1615=) c.4969C>A (p.Arg1657=) c.4897C>A (p.Arg1633=) c.4885C>A (p.Arg1629=) | |
| X | g.108157159G>A | CA518100821 | COL4A6 | c.4914C>T (p.Ala1638=) c.4917C>T (p.Ala1639=) c.4965C>T (p.Ala1655=) c.4743C>T (p.Ala1581=) c.4878C>T (p.Ala1626=) c.4842C>T (p.Ala1614=) c.4968C>T (p.Ala1656=) c.4896C>T (p.Ala1632=) c.4884C>T (p.Ala1628=) | |
| X | g.108157159G>C | CA518100822 | COL4A6 | c.4914C>G (p.Ala1638=) c.4917C>G (p.Ala1639=) c.4965C>G (p.Ala1655=) c.4743C>G (p.Ala1581=) c.4878C>G (p.Ala1626=) c.4842C>G (p.Ala1614=) c.4968C>G (p.Ala1656=) c.4896C>G (p.Ala1632=) c.4884C>G (p.Ala1628=) | |
| X | g.108157159G>T | CA518100823 | COL4A6 | c.4914C>A (p.Ala1638=) c.4917C>A (p.Ala1639=) c.4965C>A (p.Ala1655=) c.4743C>A (p.Ala1581=) c.4878C>A (p.Ala1626=) c.4842C>A (p.Ala1614=) c.4968C>A (p.Ala1656=) c.4896C>A (p.Ala1632=) c.4884C>A (p.Ala1628=) | |
| X | g.108157160G>A | CA413848374 | COL4A6 | c.4913C>T (p.Ala1638Val) c.4916C>T (p.Ala1639Val) c.4964C>T (p.Ala1655Val) c.4742C>T (p.Ala1581Val) c.4877C>T (p.Ala1626Val) c.4841C>T (p.Ala1614Val) c.4967C>T (p.Ala1656Val) c.4895C>T (p.Ala1632Val) c.4883C>T (p.Ala1628Val) | |
| X | g.108157160G>C | CA413848371 | COL4A6 | c.4913C>G (p.Ala1638Gly) c.4916C>G (p.Ala1639Gly) c.4964C>G (p.Ala1655Gly) c.4742C>G (p.Ala1581Gly) c.4877C>G (p.Ala1626Gly) c.4841C>G (p.Ala1614Gly) c.4967C>G (p.Ala1656Gly) c.4895C>G (p.Ala1632Gly) c.4883C>G (p.Ala1628Gly) | |
| X | g.108157160G>T | CA413848373 | COL4A6 | c.4913C>A (p.Ala1638Asp) c.4916C>A (p.Ala1639Asp) c.4964C>A (p.Ala1655Asp) c.4742C>A (p.Ala1581Asp) c.4877C>A (p.Ala1626Asp) c.4841C>A (p.Ala1614Asp) c.4967C>A (p.Ala1656Asp) c.4895C>A (p.Ala1632Asp) c.4883C>A (p.Ala1628Asp) | |
| X | g.108157161C>A | CA413848376 | COL4A6 | c.4912G>T (p.Ala1638Ser) c.4915G>T (p.Ala1639Ser) c.4963G>T (p.Ala1655Ser) c.4741G>T (p.Ala1581Ser) c.4876G>T (p.Ala1626Ser) c.4840G>T (p.Ala1614Ser) c.4966G>T (p.Ala1656Ser) c.4894G>T (p.Ala1632Ser) c.4882G>T (p.Ala1628Ser) | |
| X | g.108157161C= | CA2450541976 | COL4A6 | c.4912G= (p.Ala1638=) c.4915G= (p.Ala1639=) c.4963G= (p.Ala1655=) c.4741G= (p.Ala1581=) c.4876G= (p.Ala1626=) c.4840G= (p.Ala1614=) c.4966G= (p.Ala1656=) c.4894G= (p.Ala1632=) c.4882G= (p.Ala1628=) | |
| X | g.108157161C>G | CA10487093 | COL4A6 | c.4912G>C (p.Ala1638Pro) c.4915G>C (p.Ala1639Pro) c.4963G>C (p.Ala1655Pro) c.4741G>C (p.Ala1581Pro) c.4876G>C (p.Ala1626Pro) c.4840G>C (p.Ala1614Pro) c.4966G>C (p.Ala1656Pro) c.4894G>C (p.Ala1632Pro) c.4882G>C (p.Ala1628Pro) | dbSNP ExAC |
| X | g.108157161C>T | CA413848378 | COL4A6 | c.4912G>A (p.Ala1638Thr) c.4915G>A (p.Ala1639Thr) c.4963G>A (p.Ala1655Thr) c.4741G>A (p.Ala1581Thr) c.4876G>A (p.Ala1626Thr) c.4840G>A (p.Ala1614Thr) c.4966G>A (p.Ala1656Thr) c.4894G>A (p.Ala1632Thr) c.4882G>A (p.Ala1628Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157162A= | CA2450541977 | COL4A6 | c.4911T= (p.Gly1637=) c.4914T= (p.Gly1638=) c.4962T= (p.Gly1654=) c.4740T= (p.Gly1580=) c.4875T= (p.Gly1625=) c.4839T= (p.Gly1613=) c.4965T= (p.Gly1655=) c.4893T= (p.Gly1631=) c.4881T= (p.Gly1627=) | |
| X | g.108157162A>C | CA10487094 | COL4A6 | c.4911T>G (p.Gly1637=) c.4914T>G (p.Gly1638=) c.4962T>G (p.Gly1654=) c.4740T>G (p.Gly1580=) c.4875T>G (p.Gly1625=) c.4839T>G (p.Gly1613=) c.4965T>G (p.Gly1655=) c.4893T>G (p.Gly1631=) c.4881T>G (p.Gly1627=) | dbSNP ExAC |
| X | g.108157162A>G | CA518100824 | COL4A6 | c.4911T>C (p.Gly1637=) c.4914T>C (p.Gly1638=) c.4962T>C (p.Gly1654=) c.4740T>C (p.Gly1580=) c.4875T>C (p.Gly1625=) c.4839T>C (p.Gly1613=) c.4965T>C (p.Gly1655=) c.4893T>C (p.Gly1631=) c.4881T>C (p.Gly1627=) | |
| X | g.108157162A>T | CA518100825 | COL4A6 | c.4911T>A (p.Gly1637=) c.4914T>A (p.Gly1638=) c.4962T>A (p.Gly1654=) c.4740T>A (p.Gly1580=) c.4875T>A (p.Gly1625=) c.4839T>A (p.Gly1613=) c.4965T>A (p.Gly1655=) c.4893T>A (p.Gly1631=) c.4881T>A (p.Gly1627=) | |
| X | g.108157163C>A | CA413848381 | COL4A6 | c.4910G>T (p.Gly1637Val) c.4913G>T (p.Gly1638Val) c.4961G>T (p.Gly1654Val) c.4739G>T (p.Gly1580Val) c.4874G>T (p.Gly1625Val) c.4838G>T (p.Gly1613Val) c.4964G>T (p.Gly1655Val) c.4892G>T (p.Gly1631Val) c.4880G>T (p.Gly1627Val) | |
| X | g.108157163C>G | CA413848383 | COL4A6 | c.4910G>C (p.Gly1637Ala) c.4913G>C (p.Gly1638Ala) c.4961G>C (p.Gly1654Ala) c.4739G>C (p.Gly1580Ala) c.4874G>C (p.Gly1625Ala) c.4838G>C (p.Gly1613Ala) c.4964G>C (p.Gly1655Ala) c.4892G>C (p.Gly1631Ala) c.4880G>C (p.Gly1627Ala) | |
| X | g.108157163C>T | CA413848385 | COL4A6 | c.4910G>A (p.Gly1637Asp) c.4913G>A (p.Gly1638Asp) c.4961G>A (p.Gly1654Asp) c.4739G>A (p.Gly1580Asp) c.4874G>A (p.Gly1625Asp) c.4838G>A (p.Gly1613Asp) c.4964G>A (p.Gly1655Asp) c.4892G>A (p.Gly1631Asp) c.4880G>A (p.Gly1627Asp) | |
| X | g.108157164C>A | CA413848387 | COL4A6 | c.4909G>T (p.Gly1637Cys) c.4912G>T (p.Gly1638Cys) c.4960G>T (p.Gly1654Cys) c.4738G>T (p.Gly1580Cys) c.4873G>T (p.Gly1625Cys) c.4837G>T (p.Gly1613Cys) c.4963G>T (p.Gly1655Cys) c.4891G>T (p.Gly1631Cys) c.4879G>T (p.Gly1627Cys) | |
| X | g.108157164C>G | CA413848389 | COL4A6 | c.4909G>C (p.Gly1637Arg) c.4912G>C (p.Gly1638Arg) c.4960G>C (p.Gly1654Arg) c.4738G>C (p.Gly1580Arg) c.4873G>C (p.Gly1625Arg) c.4837G>C (p.Gly1613Arg) c.4963G>C (p.Gly1655Arg) c.4891G>C (p.Gly1631Arg) c.4879G>C (p.Gly1627Arg) | |
| X | g.108157164C>T | CA413848391 | COL4A6 | c.4909G>A (p.Gly1637Ser) c.4912G>A (p.Gly1638Ser) c.4960G>A (p.Gly1654Ser) c.4738G>A (p.Gly1580Ser) c.4873G>A (p.Gly1625Ser) c.4837G>A (p.Gly1613Ser) c.4963G>A (p.Gly1655Ser) c.4891G>A (p.Gly1631Ser) c.4879G>A (p.Gly1627Ser) | gnomAD v4 |
| X | g.108157165A>C | CA413848392 | COL4A6 | c.4908T>G (p.Ser1636Arg) c.4911T>G (p.Ser1637Arg) c.4959T>G (p.Ser1653Arg) c.4737T>G (p.Ser1579Arg) c.4872T>G (p.Ser1624Arg) c.4836T>G (p.Ser1612Arg) c.4962T>G (p.Ser1654Arg) c.4890T>G (p.Ser1630Arg) c.4878T>G (p.Ser1626Arg) | |
| X | g.108157165A>G | CA518100826 | COL4A6 | c.4908T>C (p.Ser1636=) c.4911T>C (p.Ser1637=) c.4959T>C (p.Ser1653=) c.4737T>C (p.Ser1579=) c.4872T>C (p.Ser1624=) c.4836T>C (p.Ser1612=) c.4962T>C (p.Ser1654=) c.4890T>C (p.Ser1630=) c.4878T>C (p.Ser1626=) | |
| X | g.108157165A>T | CA413848394 | COL4A6 | c.4908T>A (p.Ser1636Arg) c.4911T>A (p.Ser1637Arg) c.4959T>A (p.Ser1653Arg) c.4737T>A (p.Ser1579Arg) c.4872T>A (p.Ser1624Arg) c.4836T>A (p.Ser1612Arg) c.4962T>A (p.Ser1654Arg) c.4890T>A (p.Ser1630Arg) c.4878T>A (p.Ser1626Arg) | |
| X | g.108157166C>A | CA413848400 | COL4A6 | c.4907G>T (p.Ser1636Ile) c.4910G>T (p.Ser1637Ile) c.4958G>T (p.Ser1653Ile) c.4736G>T (p.Ser1579Ile) c.4871G>T (p.Ser1624Ile) c.4835G>T (p.Ser1612Ile) c.4961G>T (p.Ser1654Ile) c.4889G>T (p.Ser1630Ile) c.4877G>T (p.Ser1626Ile) | |
| X | g.108157166C>G | CA413848398 | COL4A6 | c.4907G>C (p.Ser1636Thr) c.4910G>C (p.Ser1637Thr) c.4958G>C (p.Ser1653Thr) c.4736G>C (p.Ser1579Thr) c.4871G>C (p.Ser1624Thr) c.4835G>C (p.Ser1612Thr) c.4961G>C (p.Ser1654Thr) c.4889G>C (p.Ser1630Thr) c.4877G>C (p.Ser1626Thr) | |
| X | g.108157166C>T | CA413848396 | COL4A6 | c.4907G>A (p.Ser1636Asn) c.4910G>A (p.Ser1637Asn) c.4958G>A (p.Ser1653Asn) c.4736G>A (p.Ser1579Asn) c.4871G>A (p.Ser1624Asn) c.4835G>A (p.Ser1612Asn) c.4961G>A (p.Ser1654Asn) c.4889G>A (p.Ser1630Asn) c.4877G>A (p.Ser1626Asn) | |
| X | g.108157167T>A | CA413848402 | COL4A6 | c.4906A>T (p.Ser1636Cys) c.4909A>T (p.Ser1637Cys) c.4957A>T (p.Ser1653Cys) c.4735A>T (p.Ser1579Cys) c.4870A>T (p.Ser1624Cys) c.4834A>T (p.Ser1612Cys) c.4960A>T (p.Ser1654Cys) c.4888A>T (p.Ser1630Cys) c.4876A>T (p.Ser1626Cys) | |
| X | g.108157167T>C | CA413848403 | COL4A6 | c.4906A>G (p.Ser1636Gly) c.4909A>G (p.Ser1637Gly) c.4957A>G (p.Ser1653Gly) c.4735A>G (p.Ser1579Gly) c.4870A>G (p.Ser1624Gly) c.4834A>G (p.Ser1612Gly) c.4960A>G (p.Ser1654Gly) c.4888A>G (p.Ser1630Gly) c.4876A>G (p.Ser1626Gly) | |
| X | g.108157167T>G | CA413848405 | COL4A6 | c.4906A>C (p.Ser1636Arg) c.4909A>C (p.Ser1637Arg) c.4957A>C (p.Ser1653Arg) c.4735A>C (p.Ser1579Arg) c.4870A>C (p.Ser1624Arg) c.4834A>C (p.Ser1612Arg) c.4960A>C (p.Ser1654Arg) c.4888A>C (p.Ser1630Arg) c.4876A>C (p.Ser1626Arg) | |
| X | g.108157168G>A | CA518100827 | COL4A6 | c.4905C>T (p.Cys1635=) c.4908C>T (p.Cys1636=) c.4956C>T (p.Cys1652=) c.4734C>T (p.Cys1578=) c.4869C>T (p.Cys1623=) c.4833C>T (p.Cys1611=) c.4959C>T (p.Cys1653=) c.4887C>T (p.Cys1629=) c.4875C>T (p.Cys1625=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157168G>C | CA413848407 | COL4A6 | c.4905C>G (p.Cys1635Trp) c.4908C>G (p.Cys1636Trp) c.4956C>G (p.Cys1652Trp) c.4734C>G (p.Cys1578Trp) c.4869C>G (p.Cys1623Trp) c.4833C>G (p.Cys1611Trp) c.4959C>G (p.Cys1653Trp) c.4887C>G (p.Cys1629Trp) c.4875C>G (p.Cys1625Trp) | |
| X | g.108157168G= | CA2450541978 | COL4A6 | c.4905C= (p.Cys1635=) c.4908C= (p.Cys1636=) c.4956C= (p.Cys1652=) c.4734C= (p.Cys1578=) c.4869C= (p.Cys1623=) c.4833C= (p.Cys1611=) c.4959C= (p.Cys1653=) c.4887C= (p.Cys1629=) c.4875C= (p.Cys1625=) | |
| X | g.108157168G>T | CA413848409 | COL4A6 | c.4905C>A (p.Cys1635Ter) c.4908C>A (p.Cys1636Ter) c.4956C>A (p.Cys1652Ter) c.4734C>A (p.Cys1578Ter) c.4869C>A (p.Cys1623Ter) c.4833C>A (p.Cys1611Ter) c.4959C>A (p.Cys1653Ter) c.4887C>A (p.Cys1629Ter) c.4875C>A (p.Cys1625Ter) | |
| X | g.108157169C>A | CA413848411 | COL4A6 | c.4904G>T (p.Cys1635Phe) c.4907G>T (p.Cys1636Phe) c.4955G>T (p.Cys1652Phe) c.4733G>T (p.Cys1578Phe) c.4868G>T (p.Cys1623Phe) c.4832G>T (p.Cys1611Phe) c.4958G>T (p.Cys1653Phe) c.4886G>T (p.Cys1629Phe) c.4874G>T (p.Cys1625Phe) | |
| X | g.108157169C>G | CA413848412 | COL4A6 | c.4904G>C (p.Cys1635Ser) c.4907G>C (p.Cys1636Ser) c.4955G>C (p.Cys1652Ser) c.4733G>C (p.Cys1578Ser) c.4868G>C (p.Cys1623Ser) c.4832G>C (p.Cys1611Ser) c.4958G>C (p.Cys1653Ser) c.4886G>C (p.Cys1629Ser) c.4874G>C (p.Cys1625Ser) | |
| X | g.108157169C>T | CA413848414 | COL4A6 | c.4904G>A (p.Cys1635Tyr) c.4907G>A (p.Cys1636Tyr) c.4955G>A (p.Cys1652Tyr) c.4733G>A (p.Cys1578Tyr) c.4868G>A (p.Cys1623Tyr) c.4832G>A (p.Cys1611Tyr) c.4958G>A (p.Cys1653Tyr) c.4886G>A (p.Cys1629Tyr) c.4874G>A (p.Cys1625Tyr) | |
| X | g.108157170A>C | CA413848416 | COL4A6 | c.4903T>G (p.Cys1635Gly) c.4906T>G (p.Cys1636Gly) c.4954T>G (p.Cys1652Gly) c.4732T>G (p.Cys1578Gly) c.4867T>G (p.Cys1623Gly) c.4831T>G (p.Cys1611Gly) c.4957T>G (p.Cys1653Gly) c.4885T>G (p.Cys1629Gly) c.4873T>G (p.Cys1625Gly) | |
| X | g.108157170A>G | CA413848418 | COL4A6 | c.4903T>C (p.Cys1635Arg) c.4906T>C (p.Cys1636Arg) c.4954T>C (p.Cys1652Arg) c.4732T>C (p.Cys1578Arg) c.4867T>C (p.Cys1623Arg) c.4831T>C (p.Cys1611Arg) c.4957T>C (p.Cys1653Arg) c.4885T>C (p.Cys1629Arg) c.4873T>C (p.Cys1625Arg) | |
| X | g.108157170A>T | CA413848419 | COL4A6 | c.4903T>A (p.Cys1635Ser) c.4906T>A (p.Cys1636Ser) c.4954T>A (p.Cys1652Ser) c.4732T>A (p.Cys1578Ser) c.4867T>A (p.Cys1623Ser) c.4831T>A (p.Cys1611Ser) c.4957T>A (p.Cys1653Ser) c.4885T>A (p.Cys1629Ser) c.4873T>A (p.Cys1625Ser) | |
| X | g.108157171T>A | CA413848421 | COL4A6 | c.4902A>T (p.Glu1634Asp) c.4905A>T (p.Glu1635Asp) c.4953A>T (p.Glu1651Asp) c.4731A>T (p.Glu1577Asp) c.4866A>T (p.Glu1622Asp) c.4830A>T (p.Glu1610Asp) c.4956A>T (p.Glu1652Asp) c.4884A>T (p.Glu1628Asp) c.4872A>T (p.Glu1624Asp) | gnomAD v4 |
| X | g.108157171T>C | CA518100828 | COL4A6 | c.4902A>G (p.Glu1634=) c.4905A>G (p.Glu1635=) c.4953A>G (p.Glu1651=) c.4731A>G (p.Glu1577=) c.4866A>G (p.Glu1622=) c.4830A>G (p.Glu1610=) c.4956A>G (p.Glu1652=) c.4884A>G (p.Glu1628=) c.4872A>G (p.Glu1624=) | gnomAD v4 |
| X | g.108157171T>G | CA413848423 | COL4A6 | c.4902A>C (p.Glu1634Asp) c.4905A>C (p.Glu1635Asp) c.4953A>C (p.Glu1651Asp) c.4731A>C (p.Glu1577Asp) c.4866A>C (p.Glu1622Asp) c.4830A>C (p.Glu1610Asp) c.4956A>C (p.Glu1652Asp) c.4884A>C (p.Glu1628Asp) c.4872A>C (p.Glu1624Asp) | |
| X | g.108157172T>A | CA413848427 | COL4A6 | c.4901A>T (p.Glu1634Val) c.4904A>T (p.Glu1635Val) c.4952A>T (p.Glu1651Val) c.4730A>T (p.Glu1577Val) c.4865A>T (p.Glu1622Val) c.4829A>T (p.Glu1610Val) c.4955A>T (p.Glu1652Val) c.4883A>T (p.Glu1628Val) c.4871A>T (p.Glu1624Val) | |
| X | g.108157172T>C | CA413848432 | COL4A6 | c.4901A>G (p.Glu1634Gly) c.4904A>G (p.Glu1635Gly) c.4952A>G (p.Glu1651Gly) c.4730A>G (p.Glu1577Gly) c.4865A>G (p.Glu1622Gly) c.4829A>G (p.Glu1610Gly) c.4955A>G (p.Glu1652Gly) c.4883A>G (p.Glu1628Gly) c.4871A>G (p.Glu1624Gly) | |
| X | g.108157172T>G | CA413848425 | COL4A6 | c.4901A>C (p.Glu1634Ala) c.4904A>C (p.Glu1635Ala) c.4952A>C (p.Glu1651Ala) c.4730A>C (p.Glu1577Ala) c.4865A>C (p.Glu1622Ala) c.4829A>C (p.Glu1610Ala) c.4955A>C (p.Glu1652Ala) c.4883A>C (p.Glu1628Ala) c.4871A>C (p.Glu1624Ala) | |
| X | g.108157173C>A | CA413848434 | COL4A6 | c.4900G>T (p.Glu1634Ter) c.4903G>T (p.Glu1635Ter) c.4951G>T (p.Glu1651Ter) c.4729G>T (p.Glu1577Ter) c.4864G>T (p.Glu1622Ter) c.4828G>T (p.Glu1610Ter) c.4954G>T (p.Glu1652Ter) c.4882G>T (p.Glu1628Ter) c.4870G>T (p.Glu1624Ter) | dbSNP |
| X | g.108157173C= | CA2450541979 | COL4A6 | c.4900G= (p.Glu1634=) c.4903G= (p.Glu1635=) c.4951G= (p.Glu1651=) c.4729G= (p.Glu1577=) c.4864G= (p.Glu1622=) c.4828G= (p.Glu1610=) c.4954G= (p.Glu1652=) c.4882G= (p.Glu1628=) c.4870G= (p.Glu1624=) | |
| X | g.108157173C>G | CA413848436 | COL4A6 | c.4900G>C (p.Glu1634Gln) c.4903G>C (p.Glu1635Gln) c.4951G>C (p.Glu1651Gln) c.4729G>C (p.Glu1577Gln) c.4864G>C (p.Glu1622Gln) c.4828G>C (p.Glu1610Gln) c.4954G>C (p.Glu1652Gln) c.4882G>C (p.Glu1628Gln) c.4870G>C (p.Glu1624Gln) | |
| X | g.108157173C>T | CA10487095 | COL4A6 | c.4900G>A (p.Glu1634Lys) c.4903G>A (p.Glu1635Lys) c.4951G>A (p.Glu1651Lys) c.4729G>A (p.Glu1577Lys) c.4864G>A (p.Glu1622Lys) c.4828G>A (p.Glu1610Lys) c.4954G>A (p.Glu1652Lys) c.4882G>A (p.Glu1628Lys) c.4870G>A (p.Glu1624Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157174G>A | CA518100829 | COL4A6 | c.4899C>T (p.Ile1633=) c.4902C>T (p.Ile1634=) c.4950C>T (p.Ile1650=) c.4728C>T (p.Ile1576=) c.4863C>T (p.Ile1621=) c.4827C>T (p.Ile1609=) c.4953C>T (p.Ile1651=) c.4881C>T (p.Ile1627=) c.4869C>T (p.Ile1623=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157174G>C | CA413848438 | COL4A6 | c.4899C>G (p.Ile1633Met) c.4902C>G (p.Ile1634Met) c.4950C>G (p.Ile1650Met) c.4728C>G (p.Ile1576Met) c.4863C>G (p.Ile1621Met) c.4827C>G (p.Ile1609Met) c.4953C>G (p.Ile1651Met) c.4881C>G (p.Ile1627Met) c.4869C>G (p.Ile1623Met) | ClinVar dbSNP |
| X | g.108157174G= | CA2450541980 | COL4A6 | c.4899C= (p.Ile1633=) c.4902C= (p.Ile1634=) c.4950C= (p.Ile1650=) c.4728C= (p.Ile1576=) c.4863C= (p.Ile1621=) c.4827C= (p.Ile1609=) c.4953C= (p.Ile1651=) c.4881C= (p.Ile1627=) c.4869C= (p.Ile1623=) | |
| X | g.108157174G>T | CA518100830 | COL4A6 | c.4899C>A (p.Ile1633=) c.4902C>A (p.Ile1634=) c.4950C>A (p.Ile1650=) c.4728C>A (p.Ile1576=) c.4863C>A (p.Ile1621=) c.4827C>A (p.Ile1609=) c.4953C>A (p.Ile1651=) c.4881C>A (p.Ile1627=) c.4869C>A (p.Ile1623=) | |
| X | g.108157175A>C | CA413848443 | COL4A6 | c.4898T>G (p.Ile1633Ser) c.4901T>G (p.Ile1634Ser) c.4949T>G (p.Ile1650Ser) c.4727T>G (p.Ile1576Ser) c.4862T>G (p.Ile1621Ser) c.4826T>G (p.Ile1609Ser) c.4952T>G (p.Ile1651Ser) c.4880T>G (p.Ile1627Ser) c.4868T>G (p.Ile1623Ser) | |
| X | g.108157175A>G | CA413848441 | COL4A6 | c.4898T>C (p.Ile1633Thr) c.4901T>C (p.Ile1634Thr) c.4949T>C (p.Ile1650Thr) c.4727T>C (p.Ile1576Thr) c.4862T>C (p.Ile1621Thr) c.4826T>C (p.Ile1609Thr) c.4952T>C (p.Ile1651Thr) c.4880T>C (p.Ile1627Thr) c.4868T>C (p.Ile1623Thr) | |
| X | g.108157175A>T | CA413848442 | COL4A6 | c.4898T>A (p.Ile1633Asn) c.4901T>A (p.Ile1634Asn) c.4949T>A (p.Ile1650Asn) c.4727T>A (p.Ile1576Asn) c.4862T>A (p.Ile1621Asn) c.4826T>A (p.Ile1609Asn) c.4952T>A (p.Ile1651Asn) c.4880T>A (p.Ile1627Asn) c.4868T>A (p.Ile1623Asn) | |
| X | g.108157176T>A | CA413848445 | COL4A6 | c.4897A>T (p.Ile1633Phe) c.4900A>T (p.Ile1634Phe) c.4948A>T (p.Ile1650Phe) c.4726A>T (p.Ile1576Phe) c.4861A>T (p.Ile1621Phe) c.4825A>T (p.Ile1609Phe) c.4951A>T (p.Ile1651Phe) c.4879A>T (p.Ile1627Phe) c.4867A>T (p.Ile1623Phe) | |
| X | g.108157176T>C | CA413848447 | COL4A6 | c.4897A>G (p.Ile1633Val) c.4900A>G (p.Ile1634Val) c.4948A>G (p.Ile1650Val) c.4726A>G (p.Ile1576Val) c.4861A>G (p.Ile1621Val) c.4825A>G (p.Ile1609Val) c.4951A>G (p.Ile1651Val) c.4879A>G (p.Ile1627Val) c.4867A>G (p.Ile1623Val) | |
| X | g.108157176T>G | CA413848449 | COL4A6 | c.4897A>C (p.Ile1633Leu) c.4900A>C (p.Ile1634Leu) c.4948A>C (p.Ile1650Leu) c.4726A>C (p.Ile1576Leu) c.4861A>C (p.Ile1621Leu) c.4825A>C (p.Ile1609Leu) c.4951A>C (p.Ile1651Leu) c.4879A>C (p.Ile1627Leu) c.4867A>C (p.Ile1623Leu) | |
| X | g.108157177G>A | CA518100831 | COL4A6 | c.4896C>T (p.Phe1632=) c.4899C>T (p.Phe1633=) c.4947C>T (p.Phe1649=) c.4725C>T (p.Phe1575=) c.4860C>T (p.Phe1620=) c.4824C>T (p.Phe1608=) c.4950C>T (p.Phe1650=) c.4878C>T (p.Phe1626=) c.4866C>T (p.Phe1622=) | gnomAD v4 |
| X | g.108157177G>C | CA413848451 | COL4A6 | c.4896C>G (p.Phe1632Leu) c.4899C>G (p.Phe1633Leu) c.4947C>G (p.Phe1649Leu) c.4725C>G (p.Phe1575Leu) c.4860C>G (p.Phe1620Leu) c.4824C>G (p.Phe1608Leu) c.4950C>G (p.Phe1650Leu) c.4878C>G (p.Phe1626Leu) c.4866C>G (p.Phe1622Leu) | |
| X | g.108157177G>T | CA413848453 | COL4A6 | c.4896C>A (p.Phe1632Leu) c.4899C>A (p.Phe1633Leu) c.4947C>A (p.Phe1649Leu) c.4725C>A (p.Phe1575Leu) c.4860C>A (p.Phe1620Leu) c.4824C>A (p.Phe1608Leu) c.4950C>A (p.Phe1650Leu) c.4878C>A (p.Phe1626Leu) c.4866C>A (p.Phe1622Leu) | |
| X | g.108157178A>C | CA413848455 | COL4A6 | c.4895T>G (p.Phe1632Cys) c.4898T>G (p.Phe1633Cys) c.4946T>G (p.Phe1649Cys) c.4724T>G (p.Phe1575Cys) c.4859T>G (p.Phe1620Cys) c.4823T>G (p.Phe1608Cys) c.4949T>G (p.Phe1650Cys) c.4877T>G (p.Phe1626Cys) c.4865T>G (p.Phe1622Cys) | |
| X | g.108157178A>G | CA413848457 | COL4A6 | c.4895T>C (p.Phe1632Ser) c.4898T>C (p.Phe1633Ser) c.4946T>C (p.Phe1649Ser) c.4724T>C (p.Phe1575Ser) c.4859T>C (p.Phe1620Ser) c.4823T>C (p.Phe1608Ser) c.4949T>C (p.Phe1650Ser) c.4877T>C (p.Phe1626Ser) c.4865T>C (p.Phe1622Ser) | |
| X | g.108157178A>T | CA413848458 | COL4A6 | c.4895T>A (p.Phe1632Tyr) c.4898T>A (p.Phe1633Tyr) c.4946T>A (p.Phe1649Tyr) c.4724T>A (p.Phe1575Tyr) c.4859T>A (p.Phe1620Tyr) c.4823T>A (p.Phe1608Tyr) c.4949T>A (p.Phe1650Tyr) c.4877T>A (p.Phe1626Tyr) c.4865T>A (p.Phe1622Tyr) | |
| X | g.108157179A>C | CA413848462 | COL4A6 | c.4894T>G (p.Phe1632Val) c.4897T>G (p.Phe1633Val) c.4945T>G (p.Phe1649Val) c.4723T>G (p.Phe1575Val) c.4858T>G (p.Phe1620Val) c.4822T>G (p.Phe1608Val) c.4948T>G (p.Phe1650Val) c.4876T>G (p.Phe1626Val) c.4864T>G (p.Phe1622Val) | |
| X | g.108157179A>G | CA413848461 | COL4A6 | c.4894T>C (p.Phe1632Leu) c.4897T>C (p.Phe1633Leu) c.4945T>C (p.Phe1649Leu) c.4723T>C (p.Phe1575Leu) c.4858T>C (p.Phe1620Leu) c.4822T>C (p.Phe1608Leu) c.4948T>C (p.Phe1650Leu) c.4876T>C (p.Phe1626Leu) c.4864T>C (p.Phe1622Leu) | |
| X | g.108157179A>T | CA413848459 | COL4A6 | c.4894T>A (p.Phe1632Ile) c.4897T>A (p.Phe1633Ile) c.4945T>A (p.Phe1649Ile) c.4723T>A (p.Phe1575Ile) c.4858T>A (p.Phe1620Ile) c.4822T>A (p.Phe1608Ile) c.4948T>A (p.Phe1650Ile) c.4876T>A (p.Phe1626Ile) c.4864T>A (p.Phe1622Ile) | |
| X | g.108157180A>C | CA518100832 | COL4A6 | c.4893T>G (p.Pro1631=) c.4896T>G (p.Pro1632=) c.4944T>G (p.Pro1648=) c.4722T>G (p.Pro1574=) c.4857T>G (p.Pro1619=) c.4821T>G (p.Pro1607=) c.4947T>G (p.Pro1649=) c.4875T>G (p.Pro1625=) c.4863T>G (p.Pro1621=) | |
| X | g.108157180A>G | CA518100833 | COL4A6 | c.4893T>C (p.Pro1631=) c.4896T>C (p.Pro1632=) c.4944T>C (p.Pro1648=) c.4722T>C (p.Pro1574=) c.4857T>C (p.Pro1619=) c.4821T>C (p.Pro1607=) c.4947T>C (p.Pro1649=) c.4875T>C (p.Pro1625=) c.4863T>C (p.Pro1621=) | |
| X | g.108157180A>T | CA518100834 | COL4A6 | c.4893T>A (p.Pro1631=) c.4896T>A (p.Pro1632=) c.4944T>A (p.Pro1648=) c.4722T>A (p.Pro1574=) c.4857T>A (p.Pro1619=) c.4821T>A (p.Pro1607=) c.4947T>A (p.Pro1649=) c.4875T>A (p.Pro1625=) c.4863T>A (p.Pro1621=) | |
| X | g.108157181G>A | CA10487096 | COL4A6 | c.4892C>T (p.Pro1631Leu) c.4895C>T (p.Pro1632Leu) c.4943C>T (p.Pro1648Leu) c.4721C>T (p.Pro1574Leu) c.4856C>T (p.Pro1619Leu) c.4820C>T (p.Pro1607Leu) c.4946C>T (p.Pro1649Leu) c.4874C>T (p.Pro1625Leu) c.4862C>T (p.Pro1621Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157181G>C | CA413848466 | COL4A6 | c.4892C>G (p.Pro1631Arg) c.4895C>G (p.Pro1632Arg) c.4943C>G (p.Pro1648Arg) c.4721C>G (p.Pro1574Arg) c.4856C>G (p.Pro1619Arg) c.4820C>G (p.Pro1607Arg) c.4946C>G (p.Pro1649Arg) c.4874C>G (p.Pro1625Arg) c.4862C>G (p.Pro1621Arg) | gnomAD v4 |
| X | g.108157181G= | CA2450541981 | COL4A6 | c.4892C= (p.Pro1631=) c.4895C= (p.Pro1632=) c.4943C= (p.Pro1648=) c.4721C= (p.Pro1574=) c.4856C= (p.Pro1619=) c.4820C= (p.Pro1607=) c.4946C= (p.Pro1649=) c.4874C= (p.Pro1625=) c.4862C= (p.Pro1621=) | |
| X | g.108157181G>T | CA413848467 | COL4A6 | c.4892C>A (p.Pro1631His) c.4895C>A (p.Pro1632His) c.4943C>A (p.Pro1648His) c.4721C>A (p.Pro1574His) c.4856C>A (p.Pro1619His) c.4820C>A (p.Pro1607His) c.4946C>A (p.Pro1649His) c.4874C>A (p.Pro1625His) c.4862C>A (p.Pro1621His) | |
| X | g.108157182G>A | CA413848469 | COL4A6 | c.4891C>T (p.Pro1631Ser) c.4894C>T (p.Pro1632Ser) c.4942C>T (p.Pro1648Ser) c.4720C>T (p.Pro1574Ser) c.4855C>T (p.Pro1619Ser) c.4819C>T (p.Pro1607Ser) c.4945C>T (p.Pro1649Ser) c.4873C>T (p.Pro1625Ser) c.4861C>T (p.Pro1621Ser) | |
| X | g.108157182G>C | CA413848471 | COL4A6 | c.4891C>G (p.Pro1631Ala) c.4894C>G (p.Pro1632Ala) c.4942C>G (p.Pro1648Ala) c.4720C>G (p.Pro1574Ala) c.4855C>G (p.Pro1619Ala) c.4819C>G (p.Pro1607Ala) c.4945C>G (p.Pro1649Ala) c.4873C>G (p.Pro1625Ala) c.4861C>G (p.Pro1621Ala) | |
| X | g.108157182G>T | CA413848472 | COL4A6 | c.4891C>A (p.Pro1631Thr) c.4894C>A (p.Pro1632Thr) c.4942C>A (p.Pro1648Thr) c.4720C>A (p.Pro1574Thr) c.4855C>A (p.Pro1619Thr) c.4819C>A (p.Pro1607Thr) c.4945C>A (p.Pro1649Thr) c.4873C>A (p.Pro1625Thr) c.4861C>A (p.Pro1621Thr) | |
| X | g.108157183A= | CA2450541982 | COL4A6 | c.4890T= (p.Thr1630=) c.4893T= (p.Thr1631=) c.4941T= (p.Thr1647=) c.4719T= (p.Thr1573=) c.4854T= (p.Thr1618=) c.4818T= (p.Thr1606=) c.4944T= (p.Thr1648=) c.4872T= (p.Thr1624=) c.4860T= (p.Thr1620=) | |
| X | g.108157183A>C | CA518100835 | COL4A6 | c.4890T>G (p.Thr1630=) c.4893T>G (p.Thr1631=) c.4941T>G (p.Thr1647=) c.4719T>G (p.Thr1573=) c.4854T>G (p.Thr1618=) c.4818T>G (p.Thr1606=) c.4944T>G (p.Thr1648=) c.4872T>G (p.Thr1624=) c.4860T>G (p.Thr1620=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157183A>G | CA518100836 | COL4A6 | c.4890T>C (p.Thr1630=) c.4893T>C (p.Thr1631=) c.4941T>C (p.Thr1647=) c.4719T>C (p.Thr1573=) c.4854T>C (p.Thr1618=) c.4818T>C (p.Thr1606=) c.4944T>C (p.Thr1648=) c.4872T>C (p.Thr1624=) c.4860T>C (p.Thr1620=) | |
| X | g.108157183A>T | CA518100837 | COL4A6 | c.4890T>A (p.Thr1630=) c.4893T>A (p.Thr1631=) c.4941T>A (p.Thr1647=) c.4719T>A (p.Thr1573=) c.4854T>A (p.Thr1618=) c.4818T>A (p.Thr1606=) c.4944T>A (p.Thr1648=) c.4872T>A (p.Thr1624=) c.4860T>A (p.Thr1620=) | |
| X | g.108157184G>A | CA413848475 | COL4A6 | c.4889C>T (p.Thr1630Ile) c.4892C>T (p.Thr1631Ile) c.4940C>T (p.Thr1647Ile) c.4718C>T (p.Thr1573Ile) c.4853C>T (p.Thr1618Ile) c.4817C>T (p.Thr1606Ile) c.4943C>T (p.Thr1648Ile) c.4871C>T (p.Thr1624Ile) c.4859C>T (p.Thr1620Ile) | |
| X | g.108157184G>C | CA413848477 | COL4A6 | c.4889C>G (p.Thr1630Ser) c.4892C>G (p.Thr1631Ser) c.4940C>G (p.Thr1647Ser) c.4718C>G (p.Thr1573Ser) c.4853C>G (p.Thr1618Ser) c.4817C>G (p.Thr1606Ser) c.4943C>G (p.Thr1648Ser) c.4871C>G (p.Thr1624Ser) c.4859C>G (p.Thr1620Ser) | |
| X | g.108157184G>T | CA413848478 | COL4A6 | c.4889C>A (p.Thr1630Asn) c.4892C>A (p.Thr1631Asn) c.4940C>A (p.Thr1647Asn) c.4718C>A (p.Thr1573Asn) c.4853C>A (p.Thr1618Asn) c.4817C>A (p.Thr1606Asn) c.4943C>A (p.Thr1648Asn) c.4871C>A (p.Thr1624Asn) c.4859C>A (p.Thr1620Asn) | |
| X | g.108157185T>A | CA413848481 | COL4A6 | c.4888A>T (p.Thr1630Ser) c.4891A>T (p.Thr1631Ser) c.4939A>T (p.Thr1647Ser) c.4717A>T (p.Thr1573Ser) c.4852A>T (p.Thr1618Ser) c.4816A>T (p.Thr1606Ser) c.4942A>T (p.Thr1648Ser) c.4870A>T (p.Thr1624Ser) c.4858A>T (p.Thr1620Ser) | |
| X | g.108157185T>C | CA413848482 | COL4A6 | c.4888A>G (p.Thr1630Ala) c.4891A>G (p.Thr1631Ala) c.4939A>G (p.Thr1647Ala) c.4717A>G (p.Thr1573Ala) c.4852A>G (p.Thr1618Ala) c.4816A>G (p.Thr1606Ala) c.4942A>G (p.Thr1648Ala) c.4870A>G (p.Thr1624Ala) c.4858A>G (p.Thr1620Ala) | |
| X | g.108157185T>G | CA413848484 | COL4A6 | c.4888A>C (p.Thr1630Pro) c.4891A>C (p.Thr1631Pro) c.4939A>C (p.Thr1647Pro) c.4717A>C (p.Thr1573Pro) c.4852A>C (p.Thr1618Pro) c.4816A>C (p.Thr1606Pro) c.4942A>C (p.Thr1648Pro) c.4870A>C (p.Thr1624Pro) c.4858A>C (p.Thr1620Pro) | |
| X | g.108157186G>A | CA518100838 | COL4A6 | c.4887C>T (p.Ala1629=) c.4890C>T (p.Ala1630=) c.4938C>T (p.Ala1646=) c.4716C>T (p.Ala1572=) c.4851C>T (p.Ala1617=) c.4815C>T (p.Ala1605=) c.4941C>T (p.Ala1647=) c.4869C>T (p.Ala1623=) c.4857C>T (p.Ala1619=) | |
| X | g.108157186G>C | CA518100839 | COL4A6 | c.4887C>G (p.Ala1629=) c.4890C>G (p.Ala1630=) c.4938C>G (p.Ala1646=) c.4716C>G (p.Ala1572=) c.4851C>G (p.Ala1617=) c.4815C>G (p.Ala1605=) c.4941C>G (p.Ala1647=) c.4869C>G (p.Ala1623=) c.4857C>G (p.Ala1619=) | |
| X | g.108157186G>T | CA518100840 | COL4A6 | c.4887C>A (p.Ala1629=) c.4890C>A (p.Ala1630=) c.4938C>A (p.Ala1646=) c.4716C>A (p.Ala1572=) c.4851C>A (p.Ala1617=) c.4815C>A (p.Ala1605=) c.4941C>A (p.Ala1647=) c.4869C>A (p.Ala1623=) c.4857C>A (p.Ala1619=) | COSMIC COSMIC COSMIC |
| X | g.108157187G>A | CA413848488 | COL4A6 | c.4886C>T (p.Ala1629Val) c.4889C>T (p.Ala1630Val) c.4937C>T (p.Ala1646Val) c.4715C>T (p.Ala1572Val) c.4850C>T (p.Ala1617Val) c.4814C>T (p.Ala1605Val) c.4940C>T (p.Ala1647Val) c.4868C>T (p.Ala1623Val) c.4856C>T (p.Ala1619Val) | |
| X | g.108157187G>C | CA413848490 | COL4A6 | c.4886C>G (p.Ala1629Gly) c.4889C>G (p.Ala1630Gly) c.4937C>G (p.Ala1646Gly) c.4715C>G (p.Ala1572Gly) c.4850C>G (p.Ala1617Gly) c.4814C>G (p.Ala1605Gly) c.4940C>G (p.Ala1647Gly) c.4868C>G (p.Ala1623Gly) c.4856C>G (p.Ala1619Gly) | |
| X | g.108157187G>T | CA413848487 | COL4A6 | c.4886C>A (p.Ala1629Asp) c.4889C>A (p.Ala1630Asp) c.4937C>A (p.Ala1646Asp) c.4715C>A (p.Ala1572Asp) c.4850C>A (p.Ala1617Asp) c.4814C>A (p.Ala1605Asp) c.4940C>A (p.Ala1647Asp) c.4868C>A (p.Ala1623Asp) c.4856C>A (p.Ala1619Asp) | |
| X | g.108157188C>A | CA413848492 | COL4A6 | c.4885G>T (p.Ala1629Ser) c.4888G>T (p.Ala1630Ser) c.4936G>T (p.Ala1646Ser) c.4714G>T (p.Ala1572Ser) c.4849G>T (p.Ala1617Ser) c.4813G>T (p.Ala1605Ser) c.4939G>T (p.Ala1647Ser) c.4867G>T (p.Ala1623Ser) c.4855G>T (p.Ala1619Ser) | |
| X | g.108157188C= | CA2450541983 | COL4A6 | c.4885G= (p.Ala1629=) c.4888G= (p.Ala1630=) c.4936G= (p.Ala1646=) c.4714G= (p.Ala1572=) c.4849G= (p.Ala1617=) c.4813G= (p.Ala1605=) c.4939G= (p.Ala1647=) c.4867G= (p.Ala1623=) c.4855G= (p.Ala1619=) | |
| X | g.108157188C>G | CA413848493 | COL4A6 | c.4885G>C (p.Ala1629Pro) c.4888G>C (p.Ala1630Pro) c.4936G>C (p.Ala1646Pro) c.4714G>C (p.Ala1572Pro) c.4849G>C (p.Ala1617Pro) c.4813G>C (p.Ala1605Pro) c.4939G>C (p.Ala1647Pro) c.4867G>C (p.Ala1623Pro) c.4855G>C (p.Ala1619Pro) | dbSNP |
| X | g.108157188C>T | CA413848494 | COL4A6 | c.4885G>A (p.Ala1629Thr) c.4888G>A (p.Ala1630Thr) c.4936G>A (p.Ala1646Thr) c.4714G>A (p.Ala1572Thr) c.4849G>A (p.Ala1617Thr) c.4813G>A (p.Ala1605Thr) c.4939G>A (p.Ala1647Thr) c.4867G>A (p.Ala1623Thr) c.4855G>A (p.Ala1619Thr) | dbSNP |
| X | g.108157189C>A | CA518100841 | COL4A6 | c.4884G>T (p.Arg1628=) c.4887G>T (p.Arg1629=) c.4935G>T (p.Arg1645=) c.4713G>T (p.Arg1571=) c.4848G>T (p.Arg1616=) c.4812G>T (p.Arg1604=) c.4938G>T (p.Arg1646=) c.4866G>T (p.Arg1622=) c.4854G>T (p.Arg1618=) | |
| X | g.108157189C>G | CA518100842 | COL4A6 | c.4884G>C (p.Arg1628=) c.4887G>C (p.Arg1629=) c.4935G>C (p.Arg1645=) c.4713G>C (p.Arg1571=) c.4848G>C (p.Arg1616=) c.4812G>C (p.Arg1604=) c.4938G>C (p.Arg1646=) c.4866G>C (p.Arg1622=) c.4854G>C (p.Arg1618=) | |
| X | g.108157189C>T | CA518100843 | COL4A6 | c.4884G>A (p.Arg1628=) c.4887G>A (p.Arg1629=) c.4935G>A (p.Arg1645=) c.4713G>A (p.Arg1571=) c.4848G>A (p.Arg1616=) c.4812G>A (p.Arg1604=) c.4938G>A (p.Arg1646=) c.4866G>A (p.Arg1622=) c.4854G>A (p.Arg1618=) | |
| X | g.108157190C>A | CA413848496 | COL4A6 | c.4883G>T (p.Arg1628Leu) c.4886G>T (p.Arg1629Leu) c.4934G>T (p.Arg1645Leu) c.4712G>T (p.Arg1571Leu) c.4847G>T (p.Arg1616Leu) c.4811G>T (p.Arg1604Leu) c.4937G>T (p.Arg1646Leu) c.4865G>T (p.Arg1622Leu) c.4853G>T (p.Arg1618Leu) | gnomAD v4 |
| X | g.108157190C= | CA2450541984 | COL4A6 | c.4883G= (p.Arg1628=) c.4886G= (p.Arg1629=) c.4934G= (p.Arg1645=) c.4712G= (p.Arg1571=) c.4847G= (p.Arg1616=) c.4811G= (p.Arg1604=) c.4937G= (p.Arg1646=) c.4865G= (p.Arg1622=) c.4853G= (p.Arg1618=) | |
| X | g.108157190C>G | CA413848498 | COL4A6 | c.4883G>C (p.Arg1628Pro) c.4886G>C (p.Arg1629Pro) c.4934G>C (p.Arg1645Pro) c.4712G>C (p.Arg1571Pro) c.4847G>C (p.Arg1616Pro) c.4811G>C (p.Arg1604Pro) c.4937G>C (p.Arg1646Pro) c.4865G>C (p.Arg1622Pro) c.4853G>C (p.Arg1618Pro) | |
| X | g.108157190C>T | CA413848500 | COL4A6 | c.4883G>A (p.Arg1628Gln) c.4886G>A (p.Arg1629Gln) c.4934G>A (p.Arg1645Gln) c.4712G>A (p.Arg1571Gln) c.4847G>A (p.Arg1616Gln) c.4811G>A (p.Arg1604Gln) c.4937G>A (p.Arg1646Gln) c.4865G>A (p.Arg1622Gln) c.4853G>A (p.Arg1618Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157191G>A | CA10487097 | COL4A6 | c.4882C>T (p.Arg1628Trp) c.4885C>T (p.Arg1629Trp) c.4933C>T (p.Arg1645Trp) c.4711C>T (p.Arg1571Trp) c.4846C>T (p.Arg1616Trp) c.4810C>T (p.Arg1604Trp) c.4936C>T (p.Arg1646Trp) c.4864C>T (p.Arg1622Trp) c.4852C>T (p.Arg1618Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157191G>C | CA413848503 | COL4A6 | c.4882C>G (p.Arg1628Gly) c.4885C>G (p.Arg1629Gly) c.4933C>G (p.Arg1645Gly) c.4711C>G (p.Arg1571Gly) c.4846C>G (p.Arg1616Gly) c.4810C>G (p.Arg1604Gly) c.4936C>G (p.Arg1646Gly) c.4864C>G (p.Arg1622Gly) c.4852C>G (p.Arg1618Gly) | |
| X | g.108157191G= | CA2450541985 | COL4A6 | c.4882C= (p.Arg1628=) c.4885C= (p.Arg1629=) c.4933C= (p.Arg1645=) c.4711C= (p.Arg1571=) c.4846C= (p.Arg1616=) c.4810C= (p.Arg1604=) c.4936C= (p.Arg1646=) c.4864C= (p.Arg1622=) c.4852C= (p.Arg1618=) | |
| X | g.108157191G>T | CA518100844 | COL4A6 | c.4882C>A (p.Arg1628=) c.4885C>A (p.Arg1629=) c.4933C>A (p.Arg1645=) c.4711C>A (p.Arg1571=) c.4846C>A (p.Arg1616=) c.4810C>A (p.Arg1604=) c.4936C>A (p.Arg1646=) c.4864C>A (p.Arg1622=) c.4852C>A (p.Arg1618=) | |
| X | g.108157192A= | CA2450541986 | COL4A6 | c.4881T= (p.Phe1627=) c.4884T= (p.Phe1628=) c.4932T= (p.Phe1644=) c.4710T= (p.Phe1570=) c.4845T= (p.Phe1615=) c.4809T= (p.Phe1603=) c.4935T= (p.Phe1645=) c.4863T= (p.Phe1621=) c.4851T= (p.Phe1617=) | |
| X | g.108157192A>C | CA413848505 | COL4A6 | c.4881T>G (p.Phe1627Leu) c.4884T>G (p.Phe1628Leu) c.4932T>G (p.Phe1644Leu) c.4710T>G (p.Phe1570Leu) c.4845T>G (p.Phe1615Leu) c.4809T>G (p.Phe1603Leu) c.4935T>G (p.Phe1645Leu) c.4863T>G (p.Phe1621Leu) c.4851T>G (p.Phe1617Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157192A>G | CA10487098 | COL4A6 | c.4881T>C (p.Phe1627=) c.4884T>C (p.Phe1628=) c.4932T>C (p.Phe1644=) c.4710T>C (p.Phe1570=) c.4845T>C (p.Phe1615=) c.4809T>C (p.Phe1603=) c.4935T>C (p.Phe1645=) c.4863T>C (p.Phe1621=) c.4851T>C (p.Phe1617=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157192A>T | CA413848507 | COL4A6 | c.4881T>A (p.Phe1627Leu) c.4884T>A (p.Phe1628Leu) c.4932T>A (p.Phe1644Leu) c.4710T>A (p.Phe1570Leu) c.4845T>A (p.Phe1615Leu) c.4809T>A (p.Phe1603Leu) c.4935T>A (p.Phe1645Leu) c.4863T>A (p.Phe1621Leu) c.4851T>A (p.Phe1617Leu) | |
| X | g.108157194dup | CA334033948 | COL4A6 | c.4881dup (p.Arg1628SerfsTer?) c.4884dup (p.Arg1629SerfsTer?) c.4932dup (p.Arg1645SerfsTer?) c.4710dup (p.Arg1571SerfsTer?) c.4845dup (p.Arg1616SerfsTer?) c.4809dup (p.Arg1604SerfsTer?) c.4935dup (p.Arg1646SerfsTer?) c.4863dup (p.Arg1622SerfsTer?) c.4851dup (p.Arg1618SerfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157193A>C | CA413848511 | COL4A6 | c.4880T>G (p.Phe1627Cys) c.4883T>G (p.Phe1628Cys) c.4931T>G (p.Phe1644Cys) c.4709T>G (p.Phe1570Cys) c.4844T>G (p.Phe1615Cys) c.4808T>G (p.Phe1603Cys) c.4934T>G (p.Phe1645Cys) c.4862T>G (p.Phe1621Cys) c.4850T>G (p.Phe1617Cys) | |
| X | g.108157193A>G | CA413848513 | COL4A6 | c.4880T>C (p.Phe1627Ser) c.4883T>C (p.Phe1628Ser) c.4931T>C (p.Phe1644Ser) c.4709T>C (p.Phe1570Ser) c.4844T>C (p.Phe1615Ser) c.4808T>C (p.Phe1603Ser) c.4934T>C (p.Phe1645Ser) c.4862T>C (p.Phe1621Ser) c.4850T>C (p.Phe1617Ser) | |
| X | g.108157193A>T | CA413848509 | COL4A6 | c.4880T>A (p.Phe1627Tyr) c.4883T>A (p.Phe1628Tyr) c.4931T>A (p.Phe1644Tyr) c.4709T>A (p.Phe1570Tyr) c.4844T>A (p.Phe1615Tyr) c.4808T>A (p.Phe1603Tyr) c.4934T>A (p.Phe1645Tyr) c.4862T>A (p.Phe1621Tyr) c.4850T>A (p.Phe1617Tyr) | |
| X | g.108157194A>C | CA413848515 | COL4A6 | c.4879T>G (p.Phe1627Val) c.4882T>G (p.Phe1628Val) c.4930T>G (p.Phe1644Val) c.4708T>G (p.Phe1570Val) c.4843T>G (p.Phe1615Val) c.4807T>G (p.Phe1603Val) c.4933T>G (p.Phe1645Val) c.4861T>G (p.Phe1621Val) c.4849T>G (p.Phe1617Val) | |
| X | g.108157194A>G | CA413848517 | COL4A6 | c.4879T>C (p.Phe1627Leu) c.4882T>C (p.Phe1628Leu) c.4930T>C (p.Phe1644Leu) c.4708T>C (p.Phe1570Leu) c.4843T>C (p.Phe1615Leu) c.4807T>C (p.Phe1603Leu) c.4933T>C (p.Phe1645Leu) c.4861T>C (p.Phe1621Leu) c.4849T>C (p.Phe1617Leu) | |
| X | g.108157194A>T | CA413848518 | COL4A6 | c.4879T>A (p.Phe1627Ile) c.4882T>A (p.Phe1628Ile) c.4930T>A (p.Phe1644Ile) c.4708T>A (p.Phe1570Ile) c.4843T>A (p.Phe1615Ile) c.4807T>A (p.Phe1603Ile) c.4933T>A (p.Phe1645Ile) c.4861T>A (p.Phe1621Ile) c.4849T>A (p.Phe1617Ile) | |
| X | g.108157195G>A | CA518100845 | COL4A6 | c.4878C>T (p.Asp1626=) c.4881C>T (p.Asp1627=) c.4929C>T (p.Asp1643=) c.4707C>T (p.Asp1569=) c.4842C>T (p.Asp1614=) c.4806C>T (p.Asp1602=) c.4932C>T (p.Asp1644=) c.4860C>T (p.Asp1620=) c.4848C>T (p.Asp1616=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108157195G>C | CA413848519 | COL4A6 | c.4878C>G (p.Asp1626Glu) c.4881C>G (p.Asp1627Glu) c.4929C>G (p.Asp1643Glu) c.4707C>G (p.Asp1569Glu) c.4842C>G (p.Asp1614Glu) c.4806C>G (p.Asp1602Glu) c.4932C>G (p.Asp1644Glu) c.4860C>G (p.Asp1620Glu) c.4848C>G (p.Asp1616Glu) | gnomAD v4 |
| X | g.108157195G= | CA2450541987 | COL4A6 | c.4878C= (p.Asp1626=) c.4881C= (p.Asp1627=) c.4929C= (p.Asp1643=) c.4707C= (p.Asp1569=) c.4842C= (p.Asp1614=) c.4806C= (p.Asp1602=) c.4932C= (p.Asp1644=) c.4860C= (p.Asp1620=) c.4848C= (p.Asp1616=) | |
| X | g.108157195G>T | CA413848521 | COL4A6 | c.4878C>A (p.Asp1626Glu) c.4881C>A (p.Asp1627Glu) c.4929C>A (p.Asp1643Glu) c.4707C>A (p.Asp1569Glu) c.4842C>A (p.Asp1614Glu) c.4806C>A (p.Asp1602Glu) c.4932C>A (p.Asp1644Glu) c.4860C>A (p.Asp1620Glu) c.4848C>A (p.Asp1616Glu) | |
| X | g.108157196T>A | CA413848526 | COL4A6 | c.4877A>T (p.Asp1626Val) c.4880A>T (p.Asp1627Val) c.4928A>T (p.Asp1643Val) c.4706A>T (p.Asp1569Val) c.4841A>T (p.Asp1614Val) c.4805A>T (p.Asp1602Val) c.4931A>T (p.Asp1644Val) c.4859A>T (p.Asp1620Val) c.4847A>T (p.Asp1616Val) | |
| X | g.108157196T>C | CA413848524 | COL4A6 | c.4877A>G (p.Asp1626Gly) c.4880A>G (p.Asp1627Gly) c.4928A>G (p.Asp1643Gly) c.4706A>G (p.Asp1569Gly) c.4841A>G (p.Asp1614Gly) c.4805A>G (p.Asp1602Gly) c.4931A>G (p.Asp1644Gly) c.4859A>G (p.Asp1620Gly) c.4847A>G (p.Asp1616Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108157196T>G | CA413848525 | COL4A6 | c.4877A>C (p.Asp1626Ala) c.4880A>C (p.Asp1627Ala) c.4928A>C (p.Asp1643Ala) c.4706A>C (p.Asp1569Ala) c.4841A>C (p.Asp1614Ala) c.4805A>C (p.Asp1602Ala) c.4931A>C (p.Asp1644Ala) c.4859A>C (p.Asp1620Ala) c.4847A>C (p.Asp1616Ala) | |
| X | g.108157196T= | CA2450541988 | COL4A6 | c.4877A= (p.Asp1626=) c.4880A= (p.Asp1627=) c.4928A= (p.Asp1643=) c.4706A= (p.Asp1569=) c.4841A= (p.Asp1614=) c.4805A= (p.Asp1602=) c.4931A= (p.Asp1644=) c.4859A= (p.Asp1620=) c.4847A= (p.Asp1616=) | |
| X | g.108157197C>A | CA413848528 | COL4A6 | c.4876G>T (p.Asp1626Tyr) c.4879G>T (p.Asp1627Tyr) c.4927G>T (p.Asp1643Tyr) c.4705G>T (p.Asp1569Tyr) c.4840G>T (p.Asp1614Tyr) c.4804G>T (p.Asp1602Tyr) c.4930G>T (p.Asp1644Tyr) c.4858G>T (p.Asp1620Tyr) c.4846G>T (p.Asp1616Tyr) | |
| X | g.108157197C>G | CA413848530 | COL4A6 | c.4876G>C (p.Asp1626His) c.4879G>C (p.Asp1627His) c.4927G>C (p.Asp1643His) c.4705G>C (p.Asp1569His) c.4840G>C (p.Asp1614His) c.4804G>C (p.Asp1602His) c.4930G>C (p.Asp1644His) c.4858G>C (p.Asp1620His) c.4846G>C (p.Asp1616His) | |
| X | g.108157197C>T | CA413848532 | COL4A6 | c.4876G>A (p.Asp1626Asn) c.4879G>A (p.Asp1627Asn) c.4927G>A (p.Asp1643Asn) c.4705G>A (p.Asp1569Asn) c.4840G>A (p.Asp1614Asn) c.4804G>A (p.Asp1602Asn) c.4930G>A (p.Asp1644Asn) c.4858G>A (p.Asp1620Asn) c.4846G>A (p.Asp1616Asn) | |
| X | g.108157198C>A | CA413848534 | COL4A6 | c.4875G>T (p.Glu1625Asp) c.4878G>T (p.Glu1626Asp) c.4926G>T (p.Glu1642Asp) c.4704G>T (p.Glu1568Asp) c.4839G>T (p.Glu1613Asp) c.4803G>T (p.Glu1601Asp) c.4929G>T (p.Glu1643Asp) c.4857G>T (p.Glu1619Asp) c.4845G>T (p.Glu1615Asp) | |
| X | g.108157198C>G | CA413848537 | COL4A6 | c.4875G>C (p.Glu1625Asp) c.4878G>C (p.Glu1626Asp) c.4926G>C (p.Glu1642Asp) c.4704G>C (p.Glu1568Asp) c.4839G>C (p.Glu1613Asp) c.4803G>C (p.Glu1601Asp) c.4929G>C (p.Glu1643Asp) c.4857G>C (p.Glu1619Asp) c.4845G>C (p.Glu1615Asp) | |
| X | g.108157198C>T | CA518100846 | COL4A6 | c.4875G>A (p.Glu1625=) c.4878G>A (p.Glu1626=) c.4926G>A (p.Glu1642=) c.4704G>A (p.Glu1568=) c.4839G>A (p.Glu1613=) c.4803G>A (p.Glu1601=) c.4929G>A (p.Glu1643=) c.4857G>A (p.Glu1619=) c.4845G>A (p.Glu1615=) | |
| X | g.108157199T>A | CA413848546 | COL4A6 | c.4874A>T (p.Glu1625Val) c.4877A>T (p.Glu1626Val) c.4925A>T (p.Glu1642Val) c.4703A>T (p.Glu1568Val) c.4838A>T (p.Glu1613Val) c.4802A>T (p.Glu1601Val) c.4928A>T (p.Glu1643Val) c.4856A>T (p.Glu1619Val) c.4844A>T (p.Glu1615Val) | |
| X | g.108157199T>C | CA413848544 | COL4A6 | c.4874A>G (p.Glu1625Gly) c.4877A>G (p.Glu1626Gly) c.4925A>G (p.Glu1642Gly) c.4703A>G (p.Glu1568Gly) c.4838A>G (p.Glu1613Gly) c.4802A>G (p.Glu1601Gly) c.4928A>G (p.Glu1643Gly) c.4856A>G (p.Glu1619Gly) c.4844A>G (p.Glu1615Gly) | |
| X | g.108157199T>G | CA413848542 | COL4A6 | c.4874A>C (p.Glu1625Ala) c.4877A>C (p.Glu1626Ala) c.4925A>C (p.Glu1642Ala) c.4703A>C (p.Glu1568Ala) c.4838A>C (p.Glu1613Ala) c.4802A>C (p.Glu1601Ala) c.4928A>C (p.Glu1643Ala) c.4856A>C (p.Glu1619Ala) c.4844A>C (p.Glu1615Ala) | |
| X | g.108157200C>A | CA413848549 | COL4A6 | c.4873G>T (p.Glu1625Ter) c.4876G>T (p.Glu1626Ter) c.4924G>T (p.Glu1642Ter) c.4702G>T (p.Glu1568Ter) c.4837G>T (p.Glu1613Ter) c.4801G>T (p.Glu1601Ter) c.4927G>T (p.Glu1643Ter) c.4855G>T (p.Glu1619Ter) c.4843G>T (p.Glu1615Ter) | |
| X | g.108157200C= | CA2450541989 | COL4A6 | c.4873G= (p.Glu1625=) c.4876G= (p.Glu1626=) c.4924G= (p.Glu1642=) c.4702G= (p.Glu1568=) c.4837G= (p.Glu1613=) c.4801G= (p.Glu1601=) c.4927G= (p.Glu1643=) c.4855G= (p.Glu1619=) c.4843G= (p.Glu1615=) | |
| X | g.108157200C>G | CA413848552 | COL4A6 | c.4873G>C (p.Glu1625Gln) c.4876G>C (p.Glu1626Gln) c.4924G>C (p.Glu1642Gln) c.4702G>C (p.Glu1568Gln) c.4837G>C (p.Glu1613Gln) c.4801G>C (p.Glu1601Gln) c.4927G>C (p.Glu1643Gln) c.4855G>C (p.Glu1619Gln) c.4843G>C (p.Glu1615Gln) | dbSNP |
| X | g.108157200C>T | CA413848551 | COL4A6 | c.4873G>A (p.Glu1625Lys) c.4876G>A (p.Glu1626Lys) c.4924G>A (p.Glu1642Lys) c.4702G>A (p.Glu1568Lys) c.4837G>A (p.Glu1613Lys) c.4801G>A (p.Glu1601Lys) c.4927G>A (p.Glu1643Lys) c.4855G>A (p.Glu1619Lys) c.4843G>A (p.Glu1615Lys) | |
| X | g.108157201T>A | CA518100847 | COL4A6 | c.4872A>T (p.Leu1624=) c.4875A>T (p.Leu1625=) c.4923A>T (p.Leu1641=) c.4701A>T (p.Leu1567=) c.4836A>T (p.Leu1612=) c.4800A>T (p.Leu1600=) c.4926A>T (p.Leu1642=) c.4854A>T (p.Leu1618=) c.4842A>T (p.Leu1614=) | |
| X | g.108157201T>C | CA518100848 | COL4A6 | c.4872A>G (p.Leu1624=) c.4875A>G (p.Leu1625=) c.4923A>G (p.Leu1641=) c.4701A>G (p.Leu1567=) c.4836A>G (p.Leu1612=) c.4800A>G (p.Leu1600=) c.4926A>G (p.Leu1642=) c.4854A>G (p.Leu1618=) c.4842A>G (p.Leu1614=) | |
| X | g.108157201T>G | CA518100849 | COL4A6 | c.4872A>C (p.Leu1624=) c.4875A>C (p.Leu1625=) c.4923A>C (p.Leu1641=) c.4701A>C (p.Leu1567=) c.4836A>C (p.Leu1612=) c.4800A>C (p.Leu1600=) c.4926A>C (p.Leu1642=) c.4854A>C (p.Leu1618=) c.4842A>C (p.Leu1614=) | |
| X | g.108157202A>C | CA413848557 | COL4A6 | c.4871T>G (p.Leu1624Arg) c.4874T>G (p.Leu1625Arg) c.4922T>G (p.Leu1641Arg) c.4700T>G (p.Leu1567Arg) c.4835T>G (p.Leu1612Arg) c.4799T>G (p.Leu1600Arg) c.4925T>G (p.Leu1642Arg) c.4853T>G (p.Leu1618Arg) c.4841T>G (p.Leu1614Arg) | |
| X | g.108157202A>G | CA413848560 | COL4A6 | c.4871T>C (p.Leu1624Pro) c.4874T>C (p.Leu1625Pro) c.4922T>C (p.Leu1641Pro) c.4700T>C (p.Leu1567Pro) c.4835T>C (p.Leu1612Pro) c.4799T>C (p.Leu1600Pro) c.4925T>C (p.Leu1642Pro) c.4853T>C (p.Leu1618Pro) c.4841T>C (p.Leu1614Pro) | |
| X | g.108157202A>T | CA413848562 | COL4A6 | c.4871T>A (p.Leu1624Gln) c.4874T>A (p.Leu1625Gln) c.4922T>A (p.Leu1641Gln) c.4700T>A (p.Leu1567Gln) c.4835T>A (p.Leu1612Gln) c.4799T>A (p.Leu1600Gln) c.4925T>A (p.Leu1642Gln) c.4853T>A (p.Leu1618Gln) c.4841T>A (p.Leu1614Gln) | |
| X | g.108157203G>A | CA518100850 | COL4A6 | c.4870C>T (p.Leu1624=) c.4873C>T (p.Leu1625=) c.4921C>T (p.Leu1641=) c.4699C>T (p.Leu1567=) c.4834C>T (p.Leu1612=) c.4798C>T (p.Leu1600=) c.4924C>T (p.Leu1642=) c.4852C>T (p.Leu1618=) c.4840C>T (p.Leu1614=) | |
| X | g.108157203G>C | CA413848565 | COL4A6 | c.4870C>G (p.Leu1624Val) c.4873C>G (p.Leu1625Val) c.4921C>G (p.Leu1641Val) c.4699C>G (p.Leu1567Val) c.4834C>G (p.Leu1612Val) c.4798C>G (p.Leu1600Val) c.4924C>G (p.Leu1642Val) c.4852C>G (p.Leu1618Val) c.4840C>G (p.Leu1614Val) | |
| X | g.108157203G>T | CA413848567 | COL4A6 | c.4870C>A (p.Leu1624Ile) c.4873C>A (p.Leu1625Ile) c.4921C>A (p.Leu1641Ile) c.4699C>A (p.Leu1567Ile) c.4834C>A (p.Leu1612Ile) c.4798C>A (p.Leu1600Ile) c.4924C>A (p.Leu1642Ile) c.4852C>A (p.Leu1618Ile) c.4840C>A (p.Leu1614Ile) | gnomAD v4 |
| X | g.108157204G>A | CA518100851 | COL4A6 | c.4869C>T (p.Cys1623=) c.4872C>T (p.Cys1624=) c.4920C>T (p.Cys1640=) c.4698C>T (p.Cys1566=) c.4833C>T (p.Cys1611=) c.4797C>T (p.Cys1599=) c.4923C>T (p.Cys1641=) c.4851C>T (p.Cys1617=) c.4839C>T (p.Cys1613=) | |
| X | g.108157204G>C | CA413848570 | COL4A6 | c.4869C>G (p.Cys1623Trp) c.4872C>G (p.Cys1624Trp) c.4920C>G (p.Cys1640Trp) c.4698C>G (p.Cys1566Trp) c.4833C>G (p.Cys1611Trp) c.4797C>G (p.Cys1599Trp) c.4923C>G (p.Cys1641Trp) c.4851C>G (p.Cys1617Trp) c.4839C>G (p.Cys1613Trp) | |
| X | g.108157204G>T | CA413848572 | COL4A6 | c.4869C>A (p.Cys1623Ter) c.4872C>A (p.Cys1624Ter) c.4920C>A (p.Cys1640Ter) c.4698C>A (p.Cys1566Ter) c.4833C>A (p.Cys1611Ter) c.4797C>A (p.Cys1599Ter) c.4923C>A (p.Cys1641Ter) c.4851C>A (p.Cys1617Ter) c.4839C>A (p.Cys1613Ter) | COSMIC COSMIC COSMIC |
| X | g.108157205C>A | CA413848575 | COL4A6 | c.4868G>T (p.Cys1623Phe) c.4871G>T (p.Cys1624Phe) c.4919G>T (p.Cys1640Phe) c.4697G>T (p.Cys1566Phe) c.4832G>T (p.Cys1611Phe) c.4796G>T (p.Cys1599Phe) c.4922G>T (p.Cys1641Phe) c.4850G>T (p.Cys1617Phe) c.4838G>T (p.Cys1613Phe) | |
| X | g.108157205C>G | CA413848578 | COL4A6 | c.4868G>C (p.Cys1623Ser) c.4871G>C (p.Cys1624Ser) c.4919G>C (p.Cys1640Ser) c.4697G>C (p.Cys1566Ser) c.4832G>C (p.Cys1611Ser) c.4796G>C (p.Cys1599Ser) c.4922G>C (p.Cys1641Ser) c.4850G>C (p.Cys1617Ser) c.4838G>C (p.Cys1613Ser) | gnomAD v4 |
| X | g.108157205C>T | CA413848580 | COL4A6 | c.4868G>A (p.Cys1623Tyr) c.4871G>A (p.Cys1624Tyr) c.4919G>A (p.Cys1640Tyr) c.4697G>A (p.Cys1566Tyr) c.4832G>A (p.Cys1611Tyr) c.4796G>A (p.Cys1599Tyr) c.4922G>A (p.Cys1641Tyr) c.4850G>A (p.Cys1617Tyr) c.4838G>A (p.Cys1613Tyr) | |
| X | g.108157206A>C | CA413848590 | COL4A6 | c.4867T>G (p.Cys1623Gly) c.4870T>G (p.Cys1624Gly) c.4918T>G (p.Cys1640Gly) c.4696T>G (p.Cys1566Gly) c.4831T>G (p.Cys1611Gly) c.4795T>G (p.Cys1599Gly) c.4921T>G (p.Cys1641Gly) c.4849T>G (p.Cys1617Gly) c.4837T>G (p.Cys1613Gly) | |
| X | g.108157206A>G | CA413848588 | COL4A6 | c.4867T>C (p.Cys1623Arg) c.4870T>C (p.Cys1624Arg) c.4918T>C (p.Cys1640Arg) c.4696T>C (p.Cys1566Arg) c.4831T>C (p.Cys1611Arg) c.4795T>C (p.Cys1599Arg) c.4921T>C (p.Cys1641Arg) c.4849T>C (p.Cys1617Arg) c.4837T>C (p.Cys1613Arg) | |
| X | g.108157206A>T | CA413848586 | COL4A6 | c.4867T>A (p.Cys1623Ser) c.4870T>A (p.Cys1624Ser) c.4918T>A (p.Cys1640Ser) c.4696T>A (p.Cys1566Ser) c.4831T>A (p.Cys1611Ser) c.4795T>A (p.Cys1599Ser) c.4921T>A (p.Cys1641Ser) c.4849T>A (p.Cys1617Ser) c.4837T>A (p.Cys1613Ser) | |
| X | g.108157207G>A | CA518100852 | COL4A6 | c.4866C>T (p.Ser1622=) c.4869C>T (p.Ser1623=) c.4917C>T (p.Ser1639=) c.4695C>T (p.Ser1565=) c.4830C>T (p.Ser1610=) c.4794C>T (p.Ser1598=) c.4920C>T (p.Ser1640=) c.4848C>T (p.Ser1616=) c.4836C>T (p.Ser1612=) | |
| X | g.108157207G>C | CA518100853 | COL4A6 | c.4866C>G (p.Ser1622=) c.4869C>G (p.Ser1623=) c.4917C>G (p.Ser1639=) c.4695C>G (p.Ser1565=) c.4830C>G (p.Ser1610=) c.4794C>G (p.Ser1598=) c.4920C>G (p.Ser1640=) c.4848C>G (p.Ser1616=) c.4836C>G (p.Ser1612=) | |
| X | g.108157207G>T | CA518100854 | COL4A6 | c.4866C>A (p.Ser1622=) c.4869C>A (p.Ser1623=) c.4917C>A (p.Ser1639=) c.4695C>A (p.Ser1565=) c.4830C>A (p.Ser1610=) c.4794C>A (p.Ser1598=) c.4920C>A (p.Ser1640=) c.4848C>A (p.Ser1616=) c.4836C>A (p.Ser1612=) | |
| X | g.108157208G>A | CA413848592 | COL4A6 | c.4865C>T (p.Ser1622Phe) c.4868C>T (p.Ser1623Phe) c.4916C>T (p.Ser1639Phe) c.4694C>T (p.Ser1565Phe) c.4829C>T (p.Ser1610Phe) c.4793C>T (p.Ser1598Phe) c.4919C>T (p.Ser1640Phe) c.4847C>T (p.Ser1616Phe) c.4835C>T (p.Ser1612Phe) | |
| X | g.108157208G>C | CA413848594 | COL4A6 | c.4865C>G (p.Ser1622Cys) c.4868C>G (p.Ser1623Cys) c.4916C>G (p.Ser1639Cys) c.4694C>G (p.Ser1565Cys) c.4829C>G (p.Ser1610Cys) c.4793C>G (p.Ser1598Cys) c.4919C>G (p.Ser1640Cys) c.4847C>G (p.Ser1616Cys) c.4835C>G (p.Ser1612Cys) | |
| X | g.108157208G>T | CA413848596 | COL4A6 | c.4865C>A (p.Ser1622Tyr) c.4868C>A (p.Ser1623Tyr) c.4916C>A (p.Ser1639Tyr) c.4694C>A (p.Ser1565Tyr) c.4829C>A (p.Ser1610Tyr) c.4793C>A (p.Ser1598Tyr) c.4919C>A (p.Ser1640Tyr) c.4847C>A (p.Ser1616Tyr) c.4835C>A (p.Ser1612Tyr) | |
| X | g.108157209A>C | CA413848600 | COL4A6 | c.4864T>G (p.Ser1622Ala) c.4867T>G (p.Ser1623Ala) c.4915T>G (p.Ser1639Ala) c.4693T>G (p.Ser1565Ala) c.4828T>G (p.Ser1610Ala) c.4792T>G (p.Ser1598Ala) c.4918T>G (p.Ser1640Ala) c.4846T>G (p.Ser1616Ala) c.4834T>G (p.Ser1612Ala) | |
| X | g.108157209A>G | CA413848603 | COL4A6 | c.4864T>C (p.Ser1622Pro) c.4867T>C (p.Ser1623Pro) c.4915T>C (p.Ser1639Pro) c.4693T>C (p.Ser1565Pro) c.4828T>C (p.Ser1610Pro) c.4792T>C (p.Ser1598Pro) c.4918T>C (p.Ser1640Pro) c.4846T>C (p.Ser1616Pro) c.4834T>C (p.Ser1612Pro) | |
| X | g.108157209A>T | CA413848605 | COL4A6 | c.4864T>A (p.Ser1622Thr) c.4867T>A (p.Ser1623Thr) c.4915T>A (p.Ser1639Thr) c.4693T>A (p.Ser1565Thr) c.4828T>A (p.Ser1610Thr) c.4792T>A (p.Ser1598Thr) c.4918T>A (p.Ser1640Thr) c.4846T>A (p.Ser1616Thr) c.4834T>A (p.Ser1612Thr) | |
| X | g.108157210G>A | CA518100855 | COL4A6 | c.4863C>T (p.Gly1621=) c.4866C>T (p.Gly1622=) c.4914C>T (p.Gly1638=) c.4692C>T (p.Gly1564=) c.4827C>T (p.Gly1609=) c.4791C>T (p.Gly1597=) c.4917C>T (p.Gly1639=) c.4845C>T (p.Gly1615=) c.4833C>T (p.Gly1611=) | gnomAD v4 |
| X | g.108157210G>C | CA518100857 | COL4A6 | c.4863C>G (p.Gly1621=) c.4866C>G (p.Gly1622=) c.4914C>G (p.Gly1638=) c.4692C>G (p.Gly1564=) c.4827C>G (p.Gly1609=) c.4791C>G (p.Gly1597=) c.4917C>G (p.Gly1639=) c.4845C>G (p.Gly1615=) c.4833C>G (p.Gly1611=) | |
| X | g.108157210G>T | CA518100856 | COL4A6 | c.4863C>A (p.Gly1621=) c.4866C>A (p.Gly1622=) c.4914C>A (p.Gly1638=) c.4692C>A (p.Gly1564=) c.4827C>A (p.Gly1609=) c.4791C>A (p.Gly1597=) c.4917C>A (p.Gly1639=) c.4845C>A (p.Gly1615=) c.4833C>A (p.Gly1611=) | |
| X | g.108157211C>A | CA413848608 | COL4A6 | c.4862G>T (p.Gly1621Val) c.4865G>T (p.Gly1622Val) c.4913G>T (p.Gly1638Val) c.4691G>T (p.Gly1564Val) c.4826G>T (p.Gly1609Val) c.4790G>T (p.Gly1597Val) c.4916G>T (p.Gly1639Val) c.4844G>T (p.Gly1615Val) c.4832G>T (p.Gly1611Val) | |
| X | g.108157211C>G | CA413848610 | COL4A6 | c.4862G>C (p.Gly1621Ala) c.4865G>C (p.Gly1622Ala) c.4913G>C (p.Gly1638Ala) c.4691G>C (p.Gly1564Ala) c.4826G>C (p.Gly1609Ala) c.4790G>C (p.Gly1597Ala) c.4916G>C (p.Gly1639Ala) c.4844G>C (p.Gly1615Ala) c.4832G>C (p.Gly1611Ala) | |
| X | g.108157211C>T | CA413848613 | COL4A6 | c.4862G>A (p.Gly1621Asp) c.4865G>A (p.Gly1622Asp) c.4913G>A (p.Gly1638Asp) c.4691G>A (p.Gly1564Asp) c.4826G>A (p.Gly1609Asp) c.4790G>A (p.Gly1597Asp) c.4916G>A (p.Gly1639Asp) c.4844G>A (p.Gly1615Asp) c.4832G>A (p.Gly1611Asp) | |
| X | g.108157212C>A | CA413848615 | COL4A6 | c.4861G>T (p.Gly1621Cys) c.4864G>T (p.Gly1622Cys) c.4912G>T (p.Gly1638Cys) c.4690G>T (p.Gly1564Cys) c.4825G>T (p.Gly1609Cys) c.4789G>T (p.Gly1597Cys) c.4915G>T (p.Gly1639Cys) c.4843G>T (p.Gly1615Cys) c.4831G>T (p.Gly1611Cys) | |
| X | g.108157212C>G | CA413848618 | COL4A6 | c.4861G>C (p.Gly1621Arg) c.4864G>C (p.Gly1622Arg) c.4912G>C (p.Gly1638Arg) c.4690G>C (p.Gly1564Arg) c.4825G>C (p.Gly1609Arg) c.4789G>C (p.Gly1597Arg) c.4915G>C (p.Gly1639Arg) c.4843G>C (p.Gly1615Arg) c.4831G>C (p.Gly1611Arg) | |
| X | g.108157212C>T | CA413848620 | COL4A6 | c.4861G>A (p.Gly1621Ser) c.4864G>A (p.Gly1622Ser) c.4912G>A (p.Gly1638Ser) c.4690G>A (p.Gly1564Ser) c.4825G>A (p.Gly1609Ser) c.4789G>A (p.Gly1597Ser) c.4915G>A (p.Gly1639Ser) c.4843G>A (p.Gly1615Ser) c.4831G>A (p.Gly1611Ser) | |
| X | g.108157213A>C | CA518100858 | COL4A6 | c.4860T>G (p.Pro1620=) c.4863T>G (p.Pro1621=) c.4911T>G (p.Pro1637=) c.4689T>G (p.Pro1563=) c.4824T>G (p.Pro1608=) c.4788T>G (p.Pro1596=) c.4914T>G (p.Pro1638=) c.4842T>G (p.Pro1614=) c.4830T>G (p.Pro1610=) | |
| X | g.108157213A>G | CA518100859 | COL4A6 | c.4860T>C (p.Pro1620=) c.4863T>C (p.Pro1621=) c.4911T>C (p.Pro1637=) c.4689T>C (p.Pro1563=) c.4824T>C (p.Pro1608=) c.4788T>C (p.Pro1596=) c.4914T>C (p.Pro1638=) c.4842T>C (p.Pro1614=) c.4830T>C (p.Pro1610=) | gnomAD v4 |
| X | g.108157213A>T | CA518100860 | COL4A6 | c.4860T>A (p.Pro1620=) c.4863T>A (p.Pro1621=) c.4911T>A (p.Pro1637=) c.4689T>A (p.Pro1563=) c.4824T>A (p.Pro1608=) c.4788T>A (p.Pro1596=) c.4914T>A (p.Pro1638=) c.4842T>A (p.Pro1614=) c.4830T>A (p.Pro1610=) | |
| X | g.108157214G>A | CA413848626 | COL4A6 | c.4859C>T (p.Pro1620Leu) c.4862C>T (p.Pro1621Leu) c.4910C>T (p.Pro1637Leu) c.4688C>T (p.Pro1563Leu) c.4823C>T (p.Pro1608Leu) c.4787C>T (p.Pro1596Leu) c.4913C>T (p.Pro1638Leu) c.4841C>T (p.Pro1614Leu) c.4829C>T (p.Pro1610Leu) | |
| X | g.108157214G>C | CA413848629 | COL4A6 | c.4859C>G (p.Pro1620Arg) c.4862C>G (p.Pro1621Arg) c.4910C>G (p.Pro1637Arg) c.4688C>G (p.Pro1563Arg) c.4823C>G (p.Pro1608Arg) c.4787C>G (p.Pro1596Arg) c.4913C>G (p.Pro1638Arg) c.4841C>G (p.Pro1614Arg) c.4829C>G (p.Pro1610Arg) | |
| X | g.108157214G>T | CA413848623 | COL4A6 | c.4859C>A (p.Pro1620His) c.4862C>A (p.Pro1621His) c.4910C>A (p.Pro1637His) c.4688C>A (p.Pro1563His) c.4823C>A (p.Pro1608His) c.4787C>A (p.Pro1596His) c.4913C>A (p.Pro1638His) c.4841C>A (p.Pro1614His) c.4829C>A (p.Pro1610His) | |
| X | g.108157215G>A | CA413848631 | COL4A6 | c.4858C>T (p.Pro1620Ser) c.4861C>T (p.Pro1621Ser) c.4909C>T (p.Pro1637Ser) c.4687C>T (p.Pro1563Ser) c.4822C>T (p.Pro1608Ser) c.4786C>T (p.Pro1596Ser) c.4912C>T (p.Pro1638Ser) c.4840C>T (p.Pro1614Ser) c.4828C>T (p.Pro1610Ser) | |
| X | g.108157215G>C | CA413848634 | COL4A6 | c.4858C>G (p.Pro1620Ala) c.4861C>G (p.Pro1621Ala) c.4909C>G (p.Pro1637Ala) c.4687C>G (p.Pro1563Ala) c.4822C>G (p.Pro1608Ala) c.4786C>G (p.Pro1596Ala) c.4912C>G (p.Pro1638Ala) c.4840C>G (p.Pro1614Ala) c.4828C>G (p.Pro1610Ala) | |
| X | g.108157215G>T | CA413848636 | COL4A6 | c.4858C>A (p.Pro1620Thr) c.4861C>A (p.Pro1621Thr) c.4909C>A (p.Pro1637Thr) c.4687C>A (p.Pro1563Thr) c.4822C>A (p.Pro1608Thr) c.4786C>A (p.Pro1596Thr) c.4912C>A (p.Pro1638Thr) c.4840C>A (p.Pro1614Thr) c.4828C>A (p.Pro1610Thr) | |
| X | g.108157216T>A | CA518100861 | COL4A6 | c.4857A>T (p.Ser1619=) c.4860A>T (p.Ser1620=) c.4908A>T (p.Ser1636=) c.4686A>T (p.Ser1562=) c.4821A>T (p.Ser1607=) c.4785A>T (p.Ser1595=) c.4911A>T (p.Ser1637=) c.4839A>T (p.Ser1613=) c.4827A>T (p.Ser1609=) | |
| X | g.108157216T>C | CA518100862 | COL4A6 | c.4857A>G (p.Ser1619=) c.4860A>G (p.Ser1620=) c.4908A>G (p.Ser1636=) c.4686A>G (p.Ser1562=) c.4821A>G (p.Ser1607=) c.4785A>G (p.Ser1595=) c.4911A>G (p.Ser1637=) c.4839A>G (p.Ser1613=) c.4827A>G (p.Ser1609=) | |
| X | g.108157216T>G | CA518100863 | COL4A6 | c.4857A>C (p.Ser1619=) c.4860A>C (p.Ser1620=) c.4908A>C (p.Ser1636=) c.4686A>C (p.Ser1562=) c.4821A>C (p.Ser1607=) c.4785A>C (p.Ser1595=) c.4911A>C (p.Ser1637=) c.4839A>C (p.Ser1613=) c.4827A>C (p.Ser1609=) | |
| X | g.108157217G>A | CA413848639 | COL4A6 | c.4856C>T (p.Ser1619Leu) c.4859C>T (p.Ser1620Leu) c.4907C>T (p.Ser1636Leu) c.4685C>T (p.Ser1562Leu) c.4820C>T (p.Ser1607Leu) c.4784C>T (p.Ser1595Leu) c.4910C>T (p.Ser1637Leu) c.4838C>T (p.Ser1613Leu) c.4826C>T (p.Ser1609Leu) | |
| X | g.108157217G>C | CA413848642 | COL4A6 | c.4856C>G (p.Ser1619Ter) c.4859C>G (p.Ser1620Ter) c.4907C>G (p.Ser1636Ter) c.4685C>G (p.Ser1562Ter) c.4820C>G (p.Ser1607Ter) c.4784C>G (p.Ser1595Ter) c.4910C>G (p.Ser1637Ter) c.4838C>G (p.Ser1613Ter) c.4826C>G (p.Ser1609Ter) | |
| X | g.108157217G>T | CA413848645 | COL4A6 | c.4856C>A (p.Ser1619Ter) c.4859C>A (p.Ser1620Ter) c.4907C>A (p.Ser1636Ter) c.4685C>A (p.Ser1562Ter) c.4820C>A (p.Ser1607Ter) c.4784C>A (p.Ser1595Ter) c.4910C>A (p.Ser1637Ter) c.4838C>A (p.Ser1613Ter) c.4826C>A (p.Ser1609Ter) | COSMIC COSMIC COSMIC |
| X | g.108157218A>C | CA413848648 | COL4A6 | c.4855T>G (p.Ser1619Ala) c.4858T>G (p.Ser1620Ala) c.4906T>G (p.Ser1636Ala) c.4684T>G (p.Ser1562Ala) c.4819T>G (p.Ser1607Ala) c.4783T>G (p.Ser1595Ala) c.4909T>G (p.Ser1637Ala) c.4837T>G (p.Ser1613Ala) c.4825T>G (p.Ser1609Ala) | |
| X | g.108157218A>G | CA413848651 | COL4A6 | c.4855T>C (p.Ser1619Pro) c.4858T>C (p.Ser1620Pro) c.4906T>C (p.Ser1636Pro) c.4684T>C (p.Ser1562Pro) c.4819T>C (p.Ser1607Pro) c.4783T>C (p.Ser1595Pro) c.4909T>C (p.Ser1637Pro) c.4837T>C (p.Ser1613Pro) c.4825T>C (p.Ser1609Pro) | |
| X | g.108157218A>T | CA413848654 | COL4A6 | c.4855T>A (p.Ser1619Thr) c.4858T>A (p.Ser1620Thr) c.4906T>A (p.Ser1636Thr) c.4684T>A (p.Ser1562Thr) c.4819T>A (p.Ser1607Thr) c.4783T>A (p.Ser1595Thr) c.4909T>A (p.Ser1637Thr) c.4837T>A (p.Ser1613Thr) c.4825T>A (p.Ser1609Thr) | |
| X | g.108157219G>A | CA518100864 | COL4A6 | c.4854C>T (p.Val1618=) c.4857C>T (p.Val1619=) c.4905C>T (p.Val1635=) c.4683C>T (p.Val1561=) c.4818C>T (p.Val1606=) c.4782C>T (p.Val1594=) c.4908C>T (p.Val1636=) c.4836C>T (p.Val1612=) c.4824C>T (p.Val1608=) | |
| X | g.108157219G>C | CA518100865 | COL4A6 | c.4854C>G (p.Val1618=) c.4857C>G (p.Val1619=) c.4905C>G (p.Val1635=) c.4683C>G (p.Val1561=) c.4818C>G (p.Val1606=) c.4782C>G (p.Val1594=) c.4908C>G (p.Val1636=) c.4836C>G (p.Val1612=) c.4824C>G (p.Val1608=) | |
| X | g.108157219G>T | CA518100866 | COL4A6 | c.4854C>A (p.Val1618=) c.4857C>A (p.Val1619=) c.4905C>A (p.Val1635=) c.4683C>A (p.Val1561=) c.4818C>A (p.Val1606=) c.4782C>A (p.Val1594=) c.4908C>A (p.Val1636=) c.4836C>A (p.Val1612=) c.4824C>A (p.Val1608=) | |
| X | g.108157220A>C | CA413848657 | COL4A6 | c.4853T>G (p.Val1618Gly) c.4856T>G (p.Val1619Gly) c.4904T>G (p.Val1635Gly) c.4682T>G (p.Val1561Gly) c.4817T>G (p.Val1606Gly) c.4781T>G (p.Val1594Gly) c.4907T>G (p.Val1636Gly) c.4835T>G (p.Val1612Gly) c.4823T>G (p.Val1608Gly) | |
| X | g.108157220A>G | CA413848660 | COL4A6 | c.4853T>C (p.Val1618Ala) c.4856T>C (p.Val1619Ala) c.4904T>C (p.Val1635Ala) c.4682T>C (p.Val1561Ala) c.4817T>C (p.Val1606Ala) c.4781T>C (p.Val1594Ala) c.4907T>C (p.Val1636Ala) c.4835T>C (p.Val1612Ala) c.4823T>C (p.Val1608Ala) | |
| X | g.108157220A>T | CA413848663 | COL4A6 | c.4853T>A (p.Val1618Asp) c.4856T>A (p.Val1619Asp) c.4904T>A (p.Val1635Asp) c.4682T>A (p.Val1561Asp) c.4817T>A (p.Val1606Asp) c.4781T>A (p.Val1594Asp) c.4907T>A (p.Val1636Asp) c.4835T>A (p.Val1612Asp) c.4823T>A (p.Val1608Asp) |