| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108156997_108157052dup | CA2694428809 | COL4A6 | c.5025_*7dup (n.5025_*7dup) c.5028_*7dup (n.5028_*7dup) c.5076_*7dup (n.5076_*7dup) c.4854_*7dup (n.4854_*7dup) c.4989_*7dup (n.4989_*7dup) c.4953_*7dup (n.4953_*7dup) c.5079_*7dup (n.5079_*7dup) c.5007_*7dup (n.5007_*7dup) c.4995_*7dup (n.4995_*7dup) | gnomAD v4 |
| X | g.108157002A= | CA2450541928 | COL4A6 | c.5071T= (p.Ter1691=) c.5074T= (p.Ter1692=) c.5122T= (p.Ter1708=) c.4900T= (p.Ter1634=) c.5035T= (p.Ter1679=) c.4999T= (p.Ter1667=) c.5125T= (p.Ter1709=) c.5053T= (p.Ter1685=) c.5041T= (p.Ter1681=) | |
| X | g.108157002A>C | CA236362 | COL4A6 | c.5071T>G (p.Ter1691Glu) c.5074T>G (p.Ter1692Glu) c.5122T>G (p.Ter1708Glu) c.4900T>G (p.Ter1634Glu) c.5035T>G (p.Ter1679Glu) c.4999T>G (p.Ter1667Glu) c.5125T>G (p.Ter1709Glu) c.5053T>G (p.Ter1685Glu) c.5041T>G (p.Ter1681Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157002A>G | CA413847813 | COL4A6 | c.5071T>C (p.Ter1691Gln) c.5074T>C (p.Ter1692Gln) c.5122T>C (p.Ter1708Gln) c.4900T>C (p.Ter1634Gln) c.5035T>C (p.Ter1679Gln) c.4999T>C (p.Ter1667Gln) c.5125T>C (p.Ter1709Gln) c.5053T>C (p.Ter1685Gln) c.5041T>C (p.Ter1681Gln) | |
| X | g.108157002A>T | CA413847814 | COL4A6 | c.5071T>A (p.Ter1691Lys) c.5074T>A (p.Ter1692Lys) c.5122T>A (p.Ter1708Lys) c.4900T>A (p.Ter1634Lys) c.5035T>A (p.Ter1679Lys) c.4999T>A (p.Ter1667Lys) c.5125T>A (p.Ter1709Lys) c.5053T>A (p.Ter1685Lys) c.5041T>A (p.Ter1681Lys) | |
| X | g.108157003C>A | CA518100549 | COL4A6 | c.5070G>T (p.Leu1690=) c.5073G>T (p.Leu1691=) c.5121G>T (p.Leu1707=) c.4899G>T (p.Leu1633=) c.5034G>T (p.Leu1678=) c.4998G>T (p.Leu1666=) c.5124G>T (p.Leu1708=) c.5052G>T (p.Leu1684=) c.5040G>T (p.Leu1680=) | gnomAD v4 |
| X | g.108157003C>G | CA518100548 | COL4A6 | c.5070G>C (p.Leu1690=) c.5073G>C (p.Leu1691=) c.5121G>C (p.Leu1707=) c.4899G>C (p.Leu1633=) c.5034G>C (p.Leu1678=) c.4998G>C (p.Leu1666=) c.5124G>C (p.Leu1708=) c.5052G>C (p.Leu1684=) c.5040G>C (p.Leu1680=) | |
| X | g.108157003C>T | CA518100546 | COL4A6 | c.5070G>A (p.Leu1690=) c.5073G>A (p.Leu1691=) c.5121G>A (p.Leu1707=) c.4899G>A (p.Leu1633=) c.5034G>A (p.Leu1678=) c.4998G>A (p.Leu1666=) c.5124G>A (p.Leu1708=) c.5052G>A (p.Leu1684=) c.5040G>A (p.Leu1680=) | |
| X | g.108157004A= | CA2450541929 | COL4A6 | c.5069T= (p.Leu1690=) c.5072T= (p.Leu1691=) c.5120T= (p.Leu1707=) c.4898T= (p.Leu1633=) c.5033T= (p.Leu1678=) c.4997T= (p.Leu1666=) c.5123T= (p.Leu1708=) c.5051T= (p.Leu1684=) c.5039T= (p.Leu1680=) | |
| X | g.108157004A>C | CA413847816 | COL4A6 | c.5069T>G (p.Leu1690Arg) c.5072T>G (p.Leu1691Arg) c.5120T>G (p.Leu1707Arg) c.4898T>G (p.Leu1633Arg) c.5033T>G (p.Leu1678Arg) c.4997T>G (p.Leu1666Arg) c.5123T>G (p.Leu1708Arg) c.5051T>G (p.Leu1684Arg) c.5039T>G (p.Leu1680Arg) | |
| X | g.108157004A>G | CA334033882 | COL4A6 | c.5069T>C (p.Leu1690Pro) c.5072T>C (p.Leu1691Pro) c.5120T>C (p.Leu1707Pro) c.4898T>C (p.Leu1633Pro) c.5033T>C (p.Leu1678Pro) c.4997T>C (p.Leu1666Pro) c.5123T>C (p.Leu1708Pro) c.5051T>C (p.Leu1684Pro) c.5039T>C (p.Leu1680Pro) | dbSNP |
| X | g.108157004A>T | CA413847819 | COL4A6 | c.5069T>A (p.Leu1690Gln) c.5072T>A (p.Leu1691Gln) c.5120T>A (p.Leu1707Gln) c.4898T>A (p.Leu1633Gln) c.5033T>A (p.Leu1678Gln) c.4997T>A (p.Leu1666Gln) c.5123T>A (p.Leu1708Gln) c.5051T>A (p.Leu1684Gln) c.5039T>A (p.Leu1680Gln) | |
| X | g.108157005G>A | CA518100553 | COL4A6 | c.5068C>T (p.Leu1690=) c.5071C>T (p.Leu1691=) c.5119C>T (p.Leu1707=) c.4897C>T (p.Leu1633=) c.5032C>T (p.Leu1678=) c.4996C>T (p.Leu1666=) c.5122C>T (p.Leu1708=) c.5050C>T (p.Leu1684=) c.5038C>T (p.Leu1680=) | |
| X | g.108157005G>C | CA413847820 | COL4A6 | c.5068C>G (p.Leu1690Val) c.5071C>G (p.Leu1691Val) c.5119C>G (p.Leu1707Val) c.4897C>G (p.Leu1633Val) c.5032C>G (p.Leu1678Val) c.4996C>G (p.Leu1666Val) c.5122C>G (p.Leu1708Val) c.5050C>G (p.Leu1684Val) c.5038C>G (p.Leu1680Val) | |
| X | g.108157005G>T | CA413847821 | COL4A6 | c.5068C>A (p.Leu1690Met) c.5071C>A (p.Leu1691Met) c.5119C>A (p.Leu1707Met) c.4897C>A (p.Leu1633Met) c.5032C>A (p.Leu1678Met) c.4996C>A (p.Leu1666Met) c.5122C>A (p.Leu1708Met) c.5050C>A (p.Leu1684Met) c.5038C>A (p.Leu1680Met) | |
| X | g.108157006G>A | CA518100555 | COL4A6 | c.5067C>T (p.Ser1689=) c.5070C>T (p.Ser1690=) c.5118C>T (p.Ser1706=) c.4896C>T (p.Ser1632=) c.5031C>T (p.Ser1677=) c.4995C>T (p.Ser1665=) c.5121C>T (p.Ser1707=) c.5049C>T (p.Ser1683=) c.5037C>T (p.Ser1679=) | dbSNP |
| X | g.108157006G>C | CA413847822 | COL4A6 | c.5067C>G (p.Ser1689Arg) c.5070C>G (p.Ser1690Arg) c.5118C>G (p.Ser1706Arg) c.4896C>G (p.Ser1632Arg) c.5031C>G (p.Ser1677Arg) c.4995C>G (p.Ser1665Arg) c.5121C>G (p.Ser1707Arg) c.5049C>G (p.Ser1683Arg) c.5037C>G (p.Ser1679Arg) | |
| X | g.108157006G= | CA2450541930 | COL4A6 | c.5067C= (p.Ser1689=) c.5070C= (p.Ser1690=) c.5118C= (p.Ser1706=) c.4896C= (p.Ser1632=) c.5031C= (p.Ser1677=) c.4995C= (p.Ser1665=) c.5121C= (p.Ser1707=) c.5049C= (p.Ser1683=) c.5037C= (p.Ser1679=) | |
| X | g.108157006G>T | CA10487070 | COL4A6 | c.5067C>A (p.Ser1689Arg) c.5070C>A (p.Ser1690Arg) c.5118C>A (p.Ser1706Arg) c.4896C>A (p.Ser1632Arg) c.5031C>A (p.Ser1677Arg) c.4995C>A (p.Ser1665Arg) c.5121C>A (p.Ser1707Arg) c.5049C>A (p.Ser1683Arg) c.5037C>A (p.Ser1679Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157007C>A | CA413847825 | COL4A6 | c.5066G>T (p.Ser1689Ile) c.5069G>T (p.Ser1690Ile) c.5117G>T (p.Ser1706Ile) c.4895G>T (p.Ser1632Ile) c.5030G>T (p.Ser1677Ile) c.4994G>T (p.Ser1665Ile) c.5120G>T (p.Ser1707Ile) c.5048G>T (p.Ser1683Ile) c.5036G>T (p.Ser1679Ile) | |
| X | g.108157007C>G | CA413847827 | COL4A6 | c.5066G>C (p.Ser1689Thr) c.5069G>C (p.Ser1690Thr) c.5117G>C (p.Ser1706Thr) c.4895G>C (p.Ser1632Thr) c.5030G>C (p.Ser1677Thr) c.4994G>C (p.Ser1665Thr) c.5120G>C (p.Ser1707Thr) c.5048G>C (p.Ser1683Thr) c.5036G>C (p.Ser1679Thr) | |
| X | g.108157007C>T | CA413847828 | COL4A6 | c.5066G>A (p.Ser1689Asn) c.5069G>A (p.Ser1690Asn) c.5117G>A (p.Ser1706Asn) c.4895G>A (p.Ser1632Asn) c.5030G>A (p.Ser1677Asn) c.4994G>A (p.Ser1665Asn) c.5120G>A (p.Ser1707Asn) c.5048G>A (p.Ser1683Asn) c.5036G>A (p.Ser1679Asn) | |
| X | g.108157008T>A | CA413847830 | COL4A6 | c.5065A>T (p.Ser1689Cys) c.5068A>T (p.Ser1690Cys) c.5116A>T (p.Ser1706Cys) c.4894A>T (p.Ser1632Cys) c.5029A>T (p.Ser1677Cys) c.4993A>T (p.Ser1665Cys) c.5119A>T (p.Ser1707Cys) c.5047A>T (p.Ser1683Cys) c.5035A>T (p.Ser1679Cys) | |
| X | g.108157008T>C | CA413847833 | COL4A6 | c.5065A>G (p.Ser1689Gly) c.5068A>G (p.Ser1690Gly) c.5116A>G (p.Ser1706Gly) c.4894A>G (p.Ser1632Gly) c.5029A>G (p.Ser1677Gly) c.4993A>G (p.Ser1665Gly) c.5119A>G (p.Ser1707Gly) c.5047A>G (p.Ser1683Gly) c.5035A>G (p.Ser1679Gly) | |
| X | g.108157008T>G | CA413847832 | COL4A6 | c.5065A>C (p.Ser1689Arg) c.5068A>C (p.Ser1690Arg) c.5116A>C (p.Ser1706Arg) c.4894A>C (p.Ser1632Arg) c.5029A>C (p.Ser1677Arg) c.4993A>C (p.Ser1665Arg) c.5119A>C (p.Ser1707Arg) c.5047A>C (p.Ser1683Arg) c.5035A>C (p.Ser1679Arg) | |
| X | g.108157009T>A | CA413847835 | COL4A6 | c.5064A>T (p.Lys1688Asn) c.5067A>T (p.Lys1689Asn) c.5115A>T (p.Lys1705Asn) c.4893A>T (p.Lys1631Asn) c.5028A>T (p.Lys1676Asn) c.4992A>T (p.Lys1664Asn) c.5118A>T (p.Lys1706Asn) c.5046A>T (p.Lys1682Asn) c.5034A>T (p.Lys1678Asn) | |
| X | g.108157009T>C | CA518100568 | COL4A6 | c.5064A>G (p.Lys1688=) c.5067A>G (p.Lys1689=) c.5115A>G (p.Lys1705=) c.4893A>G (p.Lys1631=) c.5028A>G (p.Lys1676=) c.4992A>G (p.Lys1664=) c.5118A>G (p.Lys1706=) c.5046A>G (p.Lys1682=) c.5034A>G (p.Lys1678=) | |
| X | g.108157009T>G | CA413847837 | COL4A6 | c.5064A>C (p.Lys1688Asn) c.5067A>C (p.Lys1689Asn) c.5115A>C (p.Lys1705Asn) c.4893A>C (p.Lys1631Asn) c.5028A>C (p.Lys1676Asn) c.4992A>C (p.Lys1664Asn) c.5118A>C (p.Lys1706Asn) c.5046A>C (p.Lys1682Asn) c.5034A>C (p.Lys1678Asn) | |
| X | g.108157010T>A | CA413847839 | COL4A6 | c.5063A>T (p.Lys1688Ile) c.5066A>T (p.Lys1689Ile) c.5114A>T (p.Lys1705Ile) c.4892A>T (p.Lys1631Ile) c.5027A>T (p.Lys1676Ile) c.4991A>T (p.Lys1664Ile) c.5117A>T (p.Lys1706Ile) c.5045A>T (p.Lys1682Ile) c.5033A>T (p.Lys1678Ile) | |
| X | g.108157010T>C | CA413847843 | COL4A6 | c.5063A>G (p.Lys1688Arg) c.5066A>G (p.Lys1689Arg) c.5114A>G (p.Lys1705Arg) c.4892A>G (p.Lys1631Arg) c.5027A>G (p.Lys1676Arg) c.4991A>G (p.Lys1664Arg) c.5117A>G (p.Lys1706Arg) c.5045A>G (p.Lys1682Arg) c.5033A>G (p.Lys1678Arg) | |
| X | g.108157010T>G | CA413847841 | COL4A6 | c.5063A>C (p.Lys1688Thr) c.5066A>C (p.Lys1689Thr) c.5114A>C (p.Lys1705Thr) c.4892A>C (p.Lys1631Thr) c.5027A>C (p.Lys1676Thr) c.4991A>C (p.Lys1664Thr) c.5117A>C (p.Lys1706Thr) c.5045A>C (p.Lys1682Thr) c.5033A>C (p.Lys1678Thr) | |
| X | g.108157011T>A | CA413847844 | COL4A6 | c.5062A>T (p.Lys1688Ter) c.5065A>T (p.Lys1689Ter) c.5113A>T (p.Lys1705Ter) c.4891A>T (p.Lys1631Ter) c.5026A>T (p.Lys1676Ter) c.4990A>T (p.Lys1664Ter) c.5116A>T (p.Lys1706Ter) c.5044A>T (p.Lys1682Ter) c.5032A>T (p.Lys1678Ter) | |
| X | g.108157011T>C | CA413847846 | COL4A6 | c.5062A>G (p.Lys1688Glu) c.5065A>G (p.Lys1689Glu) c.5113A>G (p.Lys1705Glu) c.4891A>G (p.Lys1631Glu) c.5026A>G (p.Lys1676Glu) c.4990A>G (p.Lys1664Glu) c.5116A>G (p.Lys1706Glu) c.5044A>G (p.Lys1682Glu) c.5032A>G (p.Lys1678Glu) | |
| X | g.108157011T>G | CA413847848 | COL4A6 | c.5062A>C (p.Lys1688Gln) c.5065A>C (p.Lys1689Gln) c.5113A>C (p.Lys1705Gln) c.4891A>C (p.Lys1631Gln) c.5026A>C (p.Lys1676Gln) c.4990A>C (p.Lys1664Gln) c.5116A>C (p.Lys1706Gln) c.5044A>C (p.Lys1682Gln) c.5032A>C (p.Lys1678Gln) | |
| X | g.108157012C>A | CA413847850 | COL4A6 | c.5061G>T (p.Met1687Ile) c.5064G>T (p.Met1688Ile) c.5112G>T (p.Met1704Ile) c.4890G>T (p.Met1630Ile) c.5025G>T (p.Met1675Ile) c.4989G>T (p.Met1663Ile) c.5115G>T (p.Met1705Ile) c.5043G>T (p.Met1681Ile) c.5031G>T (p.Met1677Ile) | |
| X | g.108157012C>G | CA413847851 | COL4A6 | c.5061G>C (p.Met1687Ile) c.5064G>C (p.Met1688Ile) c.5112G>C (p.Met1704Ile) c.4890G>C (p.Met1630Ile) c.5025G>C (p.Met1675Ile) c.4989G>C (p.Met1663Ile) c.5115G>C (p.Met1705Ile) c.5043G>C (p.Met1681Ile) c.5031G>C (p.Met1677Ile) | |
| X | g.108157012C>T | CA413847853 | COL4A6 | c.5061G>A (p.Met1687Ile) c.5064G>A (p.Met1688Ile) c.5112G>A (p.Met1704Ile) c.4890G>A (p.Met1630Ile) c.5025G>A (p.Met1675Ile) c.4989G>A (p.Met1663Ile) c.5115G>A (p.Met1705Ile) c.5043G>A (p.Met1681Ile) c.5031G>A (p.Met1677Ile) | gnomAD v4 |
| X | g.108157013A>C | CA413847858 | COL4A6 | c.5060T>G (p.Met1687Arg) c.5063T>G (p.Met1688Arg) c.5111T>G (p.Met1704Arg) c.4889T>G (p.Met1630Arg) c.5024T>G (p.Met1675Arg) c.4988T>G (p.Met1663Arg) c.5114T>G (p.Met1705Arg) c.5042T>G (p.Met1681Arg) c.5030T>G (p.Met1677Arg) | |
| X | g.108157013A>G | CA413847855 | COL4A6 | c.5060T>C (p.Met1687Thr) c.5063T>C (p.Met1688Thr) c.5111T>C (p.Met1704Thr) c.4889T>C (p.Met1630Thr) c.5024T>C (p.Met1675Thr) c.4988T>C (p.Met1663Thr) c.5114T>C (p.Met1705Thr) c.5042T>C (p.Met1681Thr) c.5030T>C (p.Met1677Thr) | |
| X | g.108157013A>T | CA413847856 | COL4A6 | c.5060T>A (p.Met1687Lys) c.5063T>A (p.Met1688Lys) c.5111T>A (p.Met1704Lys) c.4889T>A (p.Met1630Lys) c.5024T>A (p.Met1675Lys) c.4988T>A (p.Met1663Lys) c.5114T>A (p.Met1705Lys) c.5042T>A (p.Met1681Lys) c.5030T>A (p.Met1677Lys) | |
| X | g.108157014T>A | CA413847861 | COL4A6 | c.5059A>T (p.Met1687Leu) c.5062A>T (p.Met1688Leu) c.5110A>T (p.Met1704Leu) c.4888A>T (p.Met1630Leu) c.5023A>T (p.Met1675Leu) c.4987A>T (p.Met1663Leu) c.5113A>T (p.Met1705Leu) c.5041A>T (p.Met1681Leu) c.5029A>T (p.Met1677Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108157014T>C | CA413847862 | COL4A6 | c.5059A>G (p.Met1687Val) c.5062A>G (p.Met1688Val) c.5110A>G (p.Met1704Val) c.4888A>G (p.Met1630Val) c.5023A>G (p.Met1675Val) c.4987A>G (p.Met1663Val) c.5113A>G (p.Met1705Val) c.5041A>G (p.Met1681Val) c.5029A>G (p.Met1677Val) | ClinVar |
| X | g.108157014T>G | CA413847863 | COL4A6 | c.5059A>C (p.Met1687Leu) c.5062A>C (p.Met1688Leu) c.5110A>C (p.Met1704Leu) c.4888A>C (p.Met1630Leu) c.5023A>C (p.Met1675Leu) c.4987A>C (p.Met1663Leu) c.5113A>C (p.Met1705Leu) c.5041A>C (p.Met1681Leu) c.5029A>C (p.Met1677Leu) | |
| X | g.108157014T= | CA2450541931 | COL4A6 | c.5059A= (p.Met1687=) c.5062A= (p.Met1688=) c.5110A= (p.Met1704=) c.4888A= (p.Met1630=) c.5023A= (p.Met1675=) c.4987A= (p.Met1663=) c.5113A= (p.Met1705=) c.5041A= (p.Met1681=) c.5029A= (p.Met1677=) | |
| X | g.108157015A>C | CA413847865 | COL4A6 | c.5058T>G (p.Cys1686Trp) c.5061T>G (p.Cys1687Trp) c.5109T>G (p.Cys1703Trp) c.4887T>G (p.Cys1629Trp) c.5022T>G (p.Cys1674Trp) c.4986T>G (p.Cys1662Trp) c.5112T>G (p.Cys1704Trp) c.5040T>G (p.Cys1680Trp) c.5028T>G (p.Cys1676Trp) | |
| X | g.108157015A>G | CA518100581 | COL4A6 | c.5058T>C (p.Cys1686=) c.5061T>C (p.Cys1687=) c.5109T>C (p.Cys1703=) c.4887T>C (p.Cys1629=) c.5022T>C (p.Cys1674=) c.4986T>C (p.Cys1662=) c.5112T>C (p.Cys1704=) c.5040T>C (p.Cys1680=) c.5028T>C (p.Cys1676=) | gnomAD v4 |
| X | g.108157015A>T | CA413847866 | COL4A6 | c.5058T>A (p.Cys1686Ter) c.5061T>A (p.Cys1687Ter) c.5109T>A (p.Cys1703Ter) c.4887T>A (p.Cys1629Ter) c.5022T>A (p.Cys1674Ter) c.4986T>A (p.Cys1662Ter) c.5112T>A (p.Cys1704Ter) c.5040T>A (p.Cys1680Ter) c.5028T>A (p.Cys1676Ter) | |
| X | g.108157017_108157035del | CA2694428828 | COL4A6 | c.5040_5058del (p.Ser1681Ter) c.5043_5061del (p.Ser1682Ter) c.5091_5109del (p.Ser1698Ter) c.4869_4887del (p.Ser1624Ter) c.5004_5022del (p.Ser1669Ter) c.4968_4986del (p.Ser1657Ter) c.5094_5112del (p.Ser1699Ter) c.5022_5040del (p.Ser1675Ter) c.5010_5028del (p.Ser1671Ter) | gnomAD v4 |
| X | g.108157016C>A | CA413847868 | COL4A6 | c.5057G>T (p.Cys1686Phe) c.5060G>T (p.Cys1687Phe) c.5108G>T (p.Cys1703Phe) c.4886G>T (p.Cys1629Phe) c.5021G>T (p.Cys1674Phe) c.4985G>T (p.Cys1662Phe) c.5111G>T (p.Cys1704Phe) c.5039G>T (p.Cys1680Phe) c.5027G>T (p.Cys1676Phe) | |
| X | g.108157016C>G | CA413847872 | COL4A6 | c.5057G>C (p.Cys1686Ser) c.5060G>C (p.Cys1687Ser) c.5108G>C (p.Cys1703Ser) c.4886G>C (p.Cys1629Ser) c.5021G>C (p.Cys1674Ser) c.4985G>C (p.Cys1662Ser) c.5111G>C (p.Cys1704Ser) c.5039G>C (p.Cys1680Ser) c.5027G>C (p.Cys1676Ser) |