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.108598800C>A | CA517922442 | COL4A5 | c.1878C>A (p.Gly626=) n.1334C>A c.1554C>A (p.Gly518=) c.1893C>A (p.Gly631=) c.213C>A (p.Gly71=) | |
| X | g.108598800C>G | CA517922443 | COL4A5 | c.1878C>G (p.Gly626=) n.1334C>G c.1554C>G (p.Gly518=) c.1893C>G (p.Gly631=) c.213C>G (p.Gly71=) | |
| X | g.108598800C>T | CA517922444 | COL4A5 | c.1878C>T (p.Gly626=) n.1334C>T c.1554C>T (p.Gly518=) c.1893C>T (p.Gly631=) c.213C>T (p.Gly71=) | |
| X | g.108598801C>A | CA413845795 | COL4A5 | c.1879C>A (p.Pro627Thr) n.1335C>A c.1555C>A (p.Pro519Thr) c.1894C>A (p.Pro632Thr) c.214C>A (p.Pro72Thr) | |
| X | g.108598801C>G | CA413845796 | COL4A5 | c.1879C>G (p.Pro627Ala) n.1335C>G c.1555C>G (p.Pro519Ala) c.1894C>G (p.Pro632Ala) c.214C>G (p.Pro72Ala) | |
| X | g.108598801C>T | CA413845797 | COL4A5 | c.1879C>T (p.Pro627Ser) n.1335C>T c.1555C>T (p.Pro519Ser) c.1894C>T (p.Pro632Ser) c.214C>T (p.Pro72Ser) | gnomAD v4 |
| X | g.108598802C>A | CA413845798 | COL4A5 | c.1880C>A (p.Pro627His) n.1336C>A c.1556C>A (p.Pro519His) c.1895C>A (p.Pro632His) c.215C>A (p.Pro72His) | |
| X | g.108598802C>G | CA413845799 | COL4A5 | c.1880C>G (p.Pro627Arg) n.1336C>G c.1556C>G (p.Pro519Arg) c.1895C>G (p.Pro632Arg) c.215C>G (p.Pro72Arg) | |
| X | g.108598802C>T | CA413845800 | COL4A5 | c.1880C>T (p.Pro627Leu) n.1336C>T c.1556C>T (p.Pro519Leu) c.1895C>T (p.Pro632Leu) c.215C>T (p.Pro72Leu) | COSMIC COSMIC |
| X | g.108598803T>A | CA517922445 | COL4A5 | c.1881T>A (p.Pro627=) n.1337T>A c.1557T>A (p.Pro519=) c.1896T>A (p.Pro632=) c.216T>A (p.Pro72=) | |
| X | g.108598803T>C | CA517922447 | COL4A5 | c.1881T>C (p.Pro627=) n.1337T>C c.1557T>C (p.Pro519=) c.1896T>C (p.Pro632=) c.216T>C (p.Pro72=) | |
| X | g.108598803T>G | CA517922446 | COL4A5 | c.1881T>G (p.Pro627=) n.1337T>G c.1557T>G (p.Pro519=) c.1896T>G (p.Pro632=) c.216T>G (p.Pro72=) | dbSNP |
| X | g.108598803T= | CA2450688847 | COL4A5 | c.1881T= (p.Pro627=) n.1337T= c.1557T= (p.Pro519=) c.1896T= (p.Pro632=) c.216T= (p.Pro72=) | |
| X | g.108598804C>A | CA413845801 | COL4A5 | c.1882C>A (p.Pro628Thr) n.1338C>A c.1558C>A (p.Pro520Thr) c.1897C>A (p.Pro633Thr) c.217C>A (p.Pro73Thr) | |
| X | g.108598804C>G | CA413845802 | COL4A5 | c.1882C>G (p.Pro628Ala) n.1338C>G c.1558C>G (p.Pro520Ala) c.1897C>G (p.Pro633Ala) c.217C>G (p.Pro73Ala) | |
| X | g.108598804C>T | CA413845803 | COL4A5 | c.1882C>T (p.Pro628Ser) n.1338C>T c.1558C>T (p.Pro520Ser) c.1897C>T (p.Pro633Ser) c.217C>T (p.Pro73Ser) | |
| X | g.108598805C>A | CA10488806 | COL4A5 | c.1883C>A (p.Pro628Gln) n.1339C>A c.1559C>A (p.Pro520Gln) c.1898C>A (p.Pro633Gln) c.218C>A (p.Pro73Gln) | dbSNP ExAC gnomAD v2 |
| X | g.108598805C= | CA2450688848 | COL4A5 | c.1883C= (p.Pro628=) n.1339C= c.1559C= (p.Pro520=) c.1898C= (p.Pro633=) c.218C= (p.Pro73=) | |
| X | g.108598805C>G | CA413845804 | COL4A5 | c.1883C>G (p.Pro628Arg) n.1339C>G c.1559C>G (p.Pro520Arg) c.1898C>G (p.Pro633Arg) c.218C>G (p.Pro73Arg) | |
| X | g.108598805C>T | CA261066 | COL4A5 | c.1883C>T (p.Pro628Leu) n.1339C>T c.1559C>T (p.Pro520Leu) c.1898C>T (p.Pro633Leu) c.218C>T (p.Pro73Leu) | dbSNP COSMIC COSMIC |
| X | g.108598806A>C | CA517922448 | COL4A5 | c.1884A>C (p.Pro628=) n.1340A>C c.1560A>C (p.Pro520=) c.1899A>C (p.Pro633=) c.219A>C (p.Pro73=) | |
| X | g.108598806A>G | CA517922449 | COL4A5 | c.1884A>G (p.Pro628=) n.1340A>G c.1560A>G (p.Pro520=) c.1899A>G (p.Pro633=) c.219A>G (p.Pro73=) | |
| X | g.108598806A>T | CA517922450 | COL4A5 | c.1884A>T (p.Pro628=) n.1340A>T c.1560A>T (p.Pro520=) c.1899A>T (p.Pro633=) c.219A>T (p.Pro73=) | |
| X | g.108598807G>A | CA413845807 | COL4A5 | c.1885G>A (p.Gly629Ser) n.1341G>A c.1561G>A (p.Gly521Ser) c.1900G>A (p.Gly634Ser) c.220G>A (p.Gly74Ser) | |
| X | g.108598807G>C | CA413845806 | COL4A5 | c.1885G>C (p.Gly629Arg) n.1341G>C c.1561G>C (p.Gly521Arg) c.1900G>C (p.Gly634Arg) c.220G>C (p.Gly74Arg) | |
| X | g.108598807G>T | CA413845805 | COL4A5 | c.1885G>T (p.Gly629Cys) n.1341G>T c.1561G>T (p.Gly521Cys) c.1900G>T (p.Gly634Cys) c.220G>T (p.Gly74Cys) | |
| 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) | ClinVar 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) |