UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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) | ClinVar |
| 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) | |
| X | g.108598822A>C | CA413845835 | COL4A5 | c.1900A>C (p.Lys634Gln) n.1356A>C c.1576A>C (p.Lys526Gln) c.1915A>C (p.Lys639Gln) c.235A>C (p.Lys79Gln) | |
| X | g.108598822A>G | CA413845836 | COL4A5 | c.1900A>G (p.Lys634Glu) n.1356A>G c.1576A>G (p.Lys526Glu) c.1915A>G (p.Lys639Glu) c.235A>G (p.Lys79Glu) | |
| X | g.108598822A>T | CA413845834 | COL4A5 | c.1900A>T (p.Lys634Ter) n.1356A>T c.1576A>T (p.Lys526Ter) c.1915A>T (p.Lys639Ter) c.235A>T (p.Lys79Ter) | |
| X | g.108598823A>C | CA413845837 | COL4A5 | c.1901A>C (p.Lys634Thr) n.1357A>C c.1577A>C (p.Lys526Thr) c.1916A>C (p.Lys639Thr) c.236A>C (p.Lys79Thr) | |
| X | g.108598823A>G | CA413845839 | COL4A5 | c.1901A>G (p.Lys634Arg) n.1357A>G c.1577A>G (p.Lys526Arg) c.1916A>G (p.Lys639Arg) c.236A>G (p.Lys79Arg) | |
| X | g.108598823A>T | CA413845838 | COL4A5 | c.1901A>T (p.Lys634Ile) n.1357A>T c.1577A>T (p.Lys526Ile) c.1916A>T (p.Lys639Ile) c.236A>T (p.Lys79Ile) | |
| X | g.108598824A>C | CA413845840 | COL4A5 | c.1902A>C (p.Lys634Asn) n.1358A>C c.1578A>C (p.Lys526Asn) c.1917A>C (p.Lys639Asn) c.237A>C (p.Lys79Asn) | COSMIC COSMIC |
| X | g.108598824A>G | CA517922474 | COL4A5 | c.1902A>G (p.Lys634=) n.1358A>G c.1578A>G (p.Lys526=) c.1917A>G (p.Lys639=) c.237A>G (p.Lys79=) | gnomAD v4 |
| X | g.108598824A>T | CA413845841 | COL4A5 | c.1902A>T (p.Lys634Asn) n.1358A>T c.1578A>T (p.Lys526Asn) c.1917A>T (p.Lys639Asn) c.237A>T (p.Lys79Asn) | |
| X | g.108598825G>A | CA413845842 | COL4A5 | c.1903G>A (p.Gly635Ser) n.1359G>A c.1579G>A (p.Gly527Ser) c.1918G>A (p.Gly640Ser) c.238G>A (p.Gly80Ser) | |
| X | g.108598825G>C | CA413845843 | COL4A5 | c.1903G>C (p.Gly635Arg) n.1359G>C c.1579G>C (p.Gly527Arg) c.1918G>C (p.Gly640Arg) c.238G>C (p.Gly80Arg) | |
| X | g.108598825G>T | CA413845844 | COL4A5 | c.1903G>T (p.Gly635Cys) n.1359G>T c.1579G>T (p.Gly527Cys) c.1918G>T (p.Gly640Cys) c.238G>T (p.Gly80Cys) | |
| X | g.108598826G>A | CA258571 | COL4A5 | c.1904G>A (p.Gly635Asp) n.1360G>A c.1580G>A (p.Gly527Asp) c.1919G>A (p.Gly640Asp) c.239G>A (p.Gly80Asp) | ClinVar dbSNP |
| X | g.108598826G>C | CA413845845 | COL4A5 | c.1904G>C (p.Gly635Ala) n.1360G>C c.1580G>C (p.Gly527Ala) c.1919G>C (p.Gly640Ala) c.239G>C (p.Gly80Ala) | |
| X | g.108598826G= | CA2450688855 | COL4A5 | c.1904G= (p.Gly635=) n.1360G= c.1580G= (p.Gly527=) c.1919G= (p.Gly640=) c.239G= (p.Gly80=) | |
| X | g.108598826G>T | CA413845846 | COL4A5 | c.1904G>T (p.Gly635Val) n.1360G>T c.1580G>T (p.Gly527Val) c.1919G>T (p.Gly640Val) c.239G>T (p.Gly80Val) | ClinVar dbSNP |
| X | g.108598827C>A | CA517922476 | COL4A5 | c.1905C>A (p.Gly635=) n.1361C>A c.1581C>A (p.Gly527=) c.1920C>A (p.Gly640=) c.240C>A (p.Gly80=) | |
| X | g.108598827C= | CA2450688856 | COL4A5 | c.1905C= (p.Gly635=) n.1361C= c.1581C= (p.Gly527=) c.1920C= (p.Gly640=) c.240C= (p.Gly80=) | |
| X | g.108598827C>G | CA517922477 | COL4A5 | c.1905C>G (p.Gly635=) n.1361C>G c.1581C>G (p.Gly527=) c.1920C>G (p.Gly640=) c.240C>G (p.Gly80=) | |
| X | g.108598827C>T | CA10488807 | COL4A5 | c.1905C>T (p.Gly635=) n.1361C>T c.1581C>T (p.Gly527=) c.1920C>T (p.Gly640=) c.240C>T (p.Gly80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |