Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108597528_108598968del | CA258538 | COL4A5 | c.1739_1948+98del n.1195_1404+98del c.1415_1624+98del c.1754_1963+98del c.74_283+98del | |
X | g.108598808G>A | CA258565 | COL4A5 | c.1886G>A (p.Gly629Asp) n.1342G>A c.1562G>A (p.Gly521Asp) c.1901G>A (p.Gly634Asp) c.221G>A (p.Gly74Asp) | dbSNP |
X | g.108598808G>C | CA413845808 | COL4A5 | c.1886G>C (p.Gly629Ala) n.1342G>C c.1562G>C (p.Gly521Ala) c.1901G>C (p.Gly634Ala) c.221G>C (p.Gly74Ala) | |
X | g.108598808G= | CA2450688849 | COL4A5 | c.1886G= (p.Gly629=) n.1342G= c.1562G= (p.Gly521=) c.1901G= (p.Gly634=) c.221G= (p.Gly74=) | |
X | g.108598808G>T | CA413845809 | COL4A5 | c.1886G>T (p.Gly629Val) n.1342G>T c.1562G>T (p.Gly521Val) c.1901G>T (p.Gly634Val) c.221G>T (p.Gly74Val) | |
X | g.108598809C>A | CA517922451 | COL4A5 | c.1887C>A (p.Gly629=) n.1343C>A c.1563C>A (p.Gly521=) c.1902C>A (p.Gly634=) c.222C>A (p.Gly74=) | |
X | g.108598809C>G | CA517922452 | COL4A5 | c.1887C>G (p.Gly629=) n.1343C>G c.1563C>G (p.Gly521=) c.1902C>G (p.Gly634=) c.222C>G (p.Gly74=) | |
X | g.108598809C>T | CA517922453 | COL4A5 | c.1887C>T (p.Gly629=) n.1343C>T c.1563C>T (p.Gly521=) c.1902C>T (p.Gly634=) c.222C>T (p.Gly74=) | |
X | g.108598810C>A | CA413845810 | COL4A5 | c.1888C>A (p.Pro630Thr) n.1344C>A c.1564C>A (p.Pro522Thr) c.1903C>A (p.Pro635Thr) c.223C>A (p.Pro75Thr) | |
X | g.108598810C>G | CA413845811 | COL4A5 | c.1888C>G (p.Pro630Ala) n.1344C>G c.1564C>G (p.Pro522Ala) c.1903C>G (p.Pro635Ala) c.223C>G (p.Pro75Ala) | |
X | g.108598810C>T | CA413845812 | COL4A5 | c.1888C>T (p.Pro630Ser) n.1344C>T c.1564C>T (p.Pro522Ser) c.1903C>T (p.Pro635Ser) c.223C>T (p.Pro75Ser) | gnomAD v4 |
X | g.108598811C>A | CA413845815 | COL4A5 | c.1889C>A (p.Pro630Gln) n.1345C>A c.1565C>A (p.Pro522Gln) c.1904C>A (p.Pro635Gln) c.224C>A (p.Pro75Gln) | |
X | g.108598811C= | CA2450688850 | COL4A5 | c.1889C= (p.Pro630=) n.1345C= c.1565C= (p.Pro522=) c.1904C= (p.Pro635=) c.224C= (p.Pro75=) | |
X | g.108598811C>G | CA413845814 | COL4A5 | c.1889C>G (p.Pro630Arg) n.1345C>G c.1565C>G (p.Pro522Arg) c.1904C>G (p.Pro635Arg) c.224C>G (p.Pro75Arg) | |
X | g.108598811C>T | CA413845813 | COL4A5 | c.1889C>T (p.Pro630Leu) n.1345C>T c.1565C>T (p.Pro522Leu) c.1904C>T (p.Pro635Leu) c.224C>T (p.Pro75Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108598812A>C | CA517922454 | COL4A5 | c.1890A>C (p.Pro630=) n.1346A>C c.1566A>C (p.Pro522=) c.1905A>C (p.Pro635=) c.225A>C (p.Pro75=) | gnomAD v4 |
X | g.108598812A>G | CA517922455 | COL4A5 | c.1890A>G (p.Pro630=) n.1346A>G c.1566A>G (p.Pro522=) c.1905A>G (p.Pro635=) c.225A>G (p.Pro75=) | ClinVar dbSNP gnomAD v4 |
X | g.108598812A>T | CA517922456 | COL4A5 | c.1890A>T (p.Pro630=) n.1346A>T c.1566A>T (p.Pro522=) c.1905A>T (p.Pro635=) c.225A>T (p.Pro75=) | |
X | g.108598813G>A | CA413845816 | COL4A5 | c.1891G>A (p.Val631Ile) n.1347G>A c.1567G>A (p.Val523Ile) c.1906G>A (p.Val636Ile) c.226G>A (p.Val76Ile) | |
X | g.108598813G>C | CA413845817 | COL4A5 | c.1891G>C (p.Val631Leu) n.1347G>C c.1567G>C (p.Val523Leu) c.1906G>C (p.Val636Leu) c.226G>C (p.Val76Leu) | |
X | g.108598813G>T | CA413845818 | COL4A5 | c.1891G>T (p.Val631Leu) n.1347G>T c.1567G>T (p.Val523Leu) c.1906G>T (p.Val636Leu) c.226G>T (p.Val76Leu) | |
X | g.108598814T>A | CA413845819 | COL4A5 | c.1892T>A (p.Val631Glu) n.1348T>A c.1568T>A (p.Val523Glu) c.1907T>A (p.Val636Glu) c.227T>A (p.Val76Glu) | |
X | g.108598814T>C | CA413845820 | COL4A5 | c.1892T>C (p.Val631Ala) n.1348T>C c.1568T>C (p.Val523Ala) c.1907T>C (p.Val636Ala) c.227T>C (p.Val76Ala) | |
X | g.108598814T>G | CA413845821 | COL4A5 | c.1892T>G (p.Val631Gly) n.1348T>G c.1568T>G (p.Val523Gly) c.1907T>G (p.Val636Gly) c.227T>G (p.Val76Gly) | |
X | g.108598815A>C | CA517922460 | COL4A5 | c.1893A>C (p.Val631=) n.1349A>C c.1569A>C (p.Val523=) c.1908A>C (p.Val636=) c.228A>C (p.Val76=) | |
X | g.108598815A>G | CA517922462 | COL4A5 | c.1893A>G (p.Val631=) n.1349A>G c.1569A>G (p.Val523=) c.1908A>G (p.Val636=) c.228A>G (p.Val76=) | |
X | g.108598815A>T | CA517922461 | COL4A5 | c.1893A>T (p.Val631=) n.1349A>T c.1569A>T (p.Val523=) c.1908A>T (p.Val636=) c.228A>T (p.Val76=) | |
X | g.108598816G>A | CA413845822 | COL4A5 | c.1894G>A (p.Gly632Ser) n.1350G>A c.1570G>A (p.Gly524Ser) c.1909G>A (p.Gly637Ser) c.229G>A (p.Gly77Ser) | |
X | g.108598816G>C | CA413845824 | COL4A5 | c.1894G>C (p.Gly632Arg) n.1350G>C c.1570G>C (p.Gly524Arg) c.1909G>C (p.Gly637Arg) c.229G>C (p.Gly77Arg) | |
X | g.108598816G= | CA2450688851 | COL4A5 | c.1894G= (p.Gly632=) n.1350G= c.1570G= (p.Gly524=) c.1909G= (p.Gly637=) c.229G= (p.Gly77=) | |
X | g.108598816G>T | CA413845823 | COL4A5 | c.1894G>T (p.Gly632Cys) n.1350G>T c.1570G>T (p.Gly524Cys) c.1909G>T (p.Gly637Cys) c.229G>T (p.Gly77Cys) | |
X | g.108598817G>A | CA258567 | COL4A5 | c.1895G>A (p.Gly632Asp) n.1351G>A c.1571G>A (p.Gly524Asp) c.1910G>A (p.Gly637Asp) c.230G>A (p.Gly77Asp) | ClinVar dbSNP |
X | g.108598817G>C | CA413845825 | COL4A5 | c.1895G>C (p.Gly632Ala) n.1351G>C c.1571G>C (p.Gly524Ala) c.1910G>C (p.Gly637Ala) c.230G>C (p.Gly77Ala) | |
X | g.108598817G= | CA2450688852 | COL4A5 | c.1895G= (p.Gly632=) n.1351G= c.1571G= (p.Gly524=) c.1910G= (p.Gly637=) c.230G= (p.Gly77=) | |
X | g.108598817G>T | CA413845826 | COL4A5 | c.1895G>T (p.Gly632Val) n.1351G>T c.1571G>T (p.Gly524Val) c.1910G>T (p.Gly637Val) c.230G>T (p.Gly77Val) | |
X | g.108598818T>A | CA517922464 | COL4A5 | c.1896T>A (p.Gly632=) n.1352T>A c.1572T>A (p.Gly524=) c.1911T>A (p.Gly637=) c.231T>A (p.Gly77=) | gnomAD v4 |
X | g.108598818T>C | CA517922465 | COL4A5 | c.1896T>C (p.Gly632=) n.1352T>C c.1572T>C (p.Gly524=) c.1911T>C (p.Gly637=) c.231T>C (p.Gly77=) | |
X | g.108598818T>G | CA517922466 | COL4A5 | c.1896T>G (p.Gly632=) n.1352T>G c.1572T>G (p.Gly524=) c.1911T>G (p.Gly637=) c.231T>G (p.Gly77=) | |
X | g.108598819G>A | CA258569 | COL4A5 | c.1897G>A (p.Glu633Lys) n.1353G>A c.1573G>A (p.Glu525Lys) c.1912G>A (p.Glu638Lys) c.232G>A (p.Glu78Lys) | dbSNP |
X | g.108598819G>C | CA413845827 | COL4A5 | c.1897G>C (p.Glu633Gln) n.1353G>C c.1573G>C (p.Glu525Gln) c.1912G>C (p.Glu638Gln) c.232G>C (p.Glu78Gln) | |
X | g.108598819G= | CA2450688853 | COL4A5 | c.1897G= (p.Glu633=) n.1353G= c.1573G= (p.Glu525=) c.1912G= (p.Glu638=) c.232G= (p.Glu78=) | |
X | g.108598819G>T | CA413845828 | COL4A5 | c.1897G>T (p.Glu633Ter) n.1353G>T c.1573G>T (p.Glu525Ter) c.1912G>T (p.Glu638Ter) c.232G>T (p.Glu78Ter) | |
X | g.108598819_108598820delinsGA | CA2450688854 | COL4A5 | c.1897_1898delinsGA (p.Glu633=) n.1353_1354delinsGA c.1573_1574delinsGA (p.Glu525=) c.1912_1913delinsGA (p.Glu638=) c.232_233delinsGA (p.Glu78=) | |
X | g.108598820A>C | CA413845829 | COL4A5 | c.1898A>C (p.Glu633Ala) n.1354A>C c.1574A>C (p.Glu525Ala) c.1913A>C (p.Glu638Ala) c.233A>C (p.Glu78Ala) | |
X | g.108598820A>G | CA413845830 | COL4A5 | c.1898A>G (p.Glu633Gly) n.1354A>G c.1574A>G (p.Glu525Gly) c.1913A>G (p.Glu638Gly) c.233A>G (p.Glu78Gly) | |
X | g.108598820A>T | CA413845831 | COL4A5 | c.1898A>T (p.Glu633Val) n.1354A>T c.1574A>T (p.Glu525Val) c.1913A>T (p.Glu638Val) c.233A>T (p.Glu78Val) | |
X | g.108598824del | CA915952368 | COL4A5 | c.1902del (p.Gly635AlafsTer25) n.1358del c.1578del (p.Gly527AlafsTer25) c.1917del (p.Gly640AlafsTer25) c.237del (p.Gly80AlafsTer25) | ClinVar dbSNP gnomAD v4 |
X | g.108598821A>C | CA413845832 | COL4A5 | c.1899A>C (p.Glu633Asp) n.1355A>C c.1575A>C (p.Glu525Asp) c.1914A>C (p.Glu638Asp) c.234A>C (p.Glu78Asp) | |
X | g.108598821A>G | CA517922470 | COL4A5 | c.1899A>G (p.Glu633=) n.1355A>G c.1575A>G (p.Glu525=) c.1914A>G (p.Glu638=) c.234A>G (p.Glu78=) | |
X | g.108598821A>T | CA413845833 | COL4A5 | c.1899A>T (p.Glu633Asp) n.1355A>T c.1575A>T (p.Glu525Asp) c.1914A>T (p.Glu638Asp) c.234A>T (p.Glu78Asp) |