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.108598828A= | CA2450688857 | COL4A5 | c.1906A= (p.Ile636=) n.1362A= c.1582A= (p.Ile528=) c.1921A= (p.Ile641=) c.241A= (p.Ile81=) | |
| X | g.108598828A>C | CA413845847 | COL4A5 | c.1906A>C (p.Ile636Leu) n.1362A>C c.1582A>C (p.Ile528Leu) c.1921A>C (p.Ile641Leu) c.241A>C (p.Ile81Leu) | |
| X | g.108598828A>G | CA413845848 | COL4A5 | c.1906A>G (p.Ile636Val) n.1362A>G c.1582A>G (p.Ile528Val) c.1921A>G (p.Ile641Val) c.241A>G (p.Ile81Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108598828A>T | CA413845849 | COL4A5 | c.1906A>T (p.Ile636Leu) n.1362A>T c.1582A>T (p.Ile528Leu) c.1921A>T (p.Ile641Leu) c.241A>T (p.Ile81Leu) | |
| X | g.108598829T>A | CA413845850 | COL4A5 | c.1907T>A (p.Ile636Lys) n.1363T>A c.1583T>A (p.Ile528Lys) c.1922T>A (p.Ile641Lys) c.242T>A (p.Ile81Lys) | |
| X | g.108598829T>C | CA413845852 | COL4A5 | c.1907T>C (p.Ile636Thr) n.1363T>C c.1583T>C (p.Ile528Thr) c.1922T>C (p.Ile641Thr) c.242T>C (p.Ile81Thr) | |
| X | g.108598829T>G | CA413845851 | COL4A5 | c.1907T>G (p.Ile636Arg) n.1363T>G c.1583T>G (p.Ile528Arg) c.1922T>G (p.Ile641Arg) c.242T>G (p.Ile81Arg) | |
| X | g.108598830A>C | CA517922478 | COL4A5 | c.1908A>C (p.Ile636=) n.1364A>C c.1584A>C (p.Ile528=) c.1923A>C (p.Ile641=) c.243A>C (p.Ile81=) | |
| X | g.108598830A>G | CA413845853 | COL4A5 | c.1908A>G (p.Ile636Met) n.1364A>G c.1584A>G (p.Ile528Met) c.1923A>G (p.Ile641Met) c.243A>G (p.Ile81Met) | |
| X | g.108598830A>T | CA517922479 | COL4A5 | c.1908A>T (p.Ile636=) n.1364A>T c.1584A>T (p.Ile528=) c.1923A>T (p.Ile641=) c.243A>T (p.Ile81=) | |
| X | g.108598831C>A | CA10488808 | COL4A5 | c.1909C>A (p.Gln637Lys) n.1365C>A c.1585C>A (p.Gln529Lys) c.1924C>A (p.Gln642Lys) c.244C>A (p.Gln82Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598831C= | CA2450688858 | COL4A5 | c.1909C= (p.Gln637=) n.1365C= c.1585C= (p.Gln529=) c.1924C= (p.Gln642=) c.244C= (p.Gln82=) | |
| X | g.108598831C>G | CA413845854 | COL4A5 | c.1909C>G (p.Gln637Glu) n.1365C>G c.1585C>G (p.Gln529Glu) c.1924C>G (p.Gln642Glu) c.244C>G (p.Gln82Glu) | |
| X | g.108598831C>T | CA413845855 | COL4A5 | c.1909C>T (p.Gln637Ter) n.1365C>T c.1585C>T (p.Gln529Ter) c.1924C>T (p.Gln642Ter) c.244C>T (p.Gln82Ter) | |
| X | g.108598832A>C | CA413845856 | COL4A5 | c.1910A>C (p.Gln637Pro) n.1366A>C c.1586A>C (p.Gln529Pro) c.1925A>C (p.Gln642Pro) c.245A>C (p.Gln82Pro) | |
| X | g.108598832A>G | CA413845857 | COL4A5 | c.1910A>G (p.Gln637Arg) n.1366A>G c.1586A>G (p.Gln529Arg) c.1925A>G (p.Gln642Arg) c.245A>G (p.Gln82Arg) | |
| X | g.108598832A>T | CA413845858 | COL4A5 | c.1910A>T (p.Gln637Leu) n.1366A>T c.1586A>T (p.Gln529Leu) c.1925A>T (p.Gln642Leu) c.245A>T (p.Gln82Leu) | |
| X | g.108598833del | CA2739290548 | COL4A5 | c.1911del (p.Gly638ValfsTer22) n.1367del c.1587del (p.Gly530ValfsTer22) c.1926del (p.Gly643ValfsTer22) c.246del (p.Gly83ValfsTer22) | |
| X | g.108598833A>C | CA413845859 | COL4A5 | c.1911A>C (p.Gln637His) n.1367A>C c.1587A>C (p.Gln529His) c.1926A>C (p.Gln642His) c.246A>C (p.Gln82His) | |
| X | g.108598833A>G | CA517922480 | COL4A5 | c.1911A>G (p.Gln637=) n.1367A>G c.1587A>G (p.Gln529=) c.1926A>G (p.Gln642=) c.246A>G (p.Gln82=) | |
| X | g.108598833A>T | CA413845860 | COL4A5 | c.1911A>T (p.Gln637His) n.1367A>T c.1587A>T (p.Gln529His) c.1926A>T (p.Gln642His) c.246A>T (p.Gln82His) | |
| X | g.108598834G>A | CA258573 | COL4A5 | c.1912G>A (p.Gly638Ser) n.1368G>A c.1588G>A (p.Gly530Ser) c.1927G>A (p.Gly643Ser) c.247G>A (p.Gly83Ser) | ClinVar dbSNP |
| X | g.108598834G>C | CA413845862 | COL4A5 | c.1912G>C (p.Gly638Arg) n.1368G>C c.1588G>C (p.Gly530Arg) c.1927G>C (p.Gly643Arg) c.247G>C (p.Gly83Arg) | |
| X | g.108598834G= | CA2450688859 | COL4A5 | c.1912G= (p.Gly638=) n.1368G= c.1588G= (p.Gly530=) c.1927G= (p.Gly643=) c.247G= (p.Gly83=) | |
| X | g.108598834G>T | CA413845861 | COL4A5 | c.1912G>T (p.Gly638Cys) n.1368G>T c.1588G>T (p.Gly530Cys) c.1927G>T (p.Gly643Cys) c.247G>T (p.Gly83Cys) | |
| X | g.108598835G>A | CA334038986 | COL4A5 | c.1913G>A (p.Gly638Asp) n.1369G>A c.1589G>A (p.Gly530Asp) c.1928G>A (p.Gly643Asp) c.248G>A (p.Gly83Asp) | dbSNP |
| X | g.108598835G>C | CA258575 | COL4A5 | c.1913G>C (p.Gly638Ala) n.1369G>C c.1589G>C (p.Gly530Ala) c.1928G>C (p.Gly643Ala) c.248G>C (p.Gly83Ala) | dbSNP |
| X | g.108598835G= | CA2450688860 | COL4A5 | c.1913G= (p.Gly638=) n.1369G= c.1589G= (p.Gly530=) c.1928G= (p.Gly643=) c.248G= (p.Gly83=) | |
| X | g.108598835G>T | CA258577 | COL4A5 | c.1913G>T (p.Gly638Val) n.1369G>T c.1589G>T (p.Gly530Val) c.1928G>T (p.Gly643Val) c.248G>T (p.Gly83Val) | dbSNP |
| X | g.108598836T>A | CA517922485 | COL4A5 | c.1914T>A (p.Gly638=) n.1370T>A c.1590T>A (p.Gly530=) c.1929T>A (p.Gly643=) c.249T>A (p.Gly83=) | |
| X | g.108598836T>C | CA517922486 | COL4A5 | c.1914T>C (p.Gly638=) n.1370T>C c.1590T>C (p.Gly530=) c.1929T>C (p.Gly643=) c.249T>C (p.Gly83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598836T>G | CA517922484 | COL4A5 | c.1914T>G (p.Gly638=) n.1370T>G c.1590T>G (p.Gly530=) c.1929T>G (p.Gly643=) c.249T>G (p.Gly83=) | |
| X | g.108598836T= | CA2450688861 | COL4A5 | c.1914T= (p.Gly638=) n.1370T= c.1590T= (p.Gly530=) c.1929T= (p.Gly643=) c.249T= (p.Gly83=) | |
| X | g.108598837G>A | CA413845863 | COL4A5 | c.1915G>A (p.Val639Met) n.1371G>A c.1591G>A (p.Val531Met) c.1930G>A (p.Val644Met) c.250G>A (p.Val84Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108598837G>C | CA413845864 | COL4A5 | c.1915G>C (p.Val639Leu) n.1371G>C c.1591G>C (p.Val531Leu) c.1930G>C (p.Val644Leu) c.250G>C (p.Val84Leu) | |
| X | g.108598837G= | CA2450688862 | COL4A5 | c.1915G= (p.Val639=) n.1371G= c.1591G= (p.Val531=) c.1930G= (p.Val644=) c.250G= (p.Val84=) | |
| X | g.108598837G>T | CA413845865 | COL4A5 | c.1915G>T (p.Val639Leu) n.1371G>T c.1591G>T (p.Val531Leu) c.1930G>T (p.Val644Leu) c.250G>T (p.Val84Leu) | |
| X | g.108598838T>A | CA413845866 | COL4A5 | c.1916T>A (p.Val639Glu) n.1372T>A c.1592T>A (p.Val531Glu) c.1931T>A (p.Val644Glu) c.251T>A (p.Val84Glu) | |
| X | g.108598838T>C | CA413845867 | COL4A5 | c.1916T>C (p.Val639Ala) n.1372T>C c.1592T>C (p.Val531Ala) c.1931T>C (p.Val644Ala) c.251T>C (p.Val84Ala) | |
| X | g.108598838T>G | CA413845868 | COL4A5 | c.1916T>G (p.Val639Gly) n.1372T>G c.1592T>G (p.Val531Gly) c.1931T>G (p.Val644Gly) c.251T>G (p.Val84Gly) | |
| X | g.108598839G>A | CA517922490 | COL4A5 | c.1917G>A (p.Val639=) n.1373G>A c.1593G>A (p.Val531=) c.1932G>A (p.Val644=) c.252G>A (p.Val84=) | gnomAD v4 |
| X | g.108598839G>C | CA517922488 | COL4A5 | c.1917G>C (p.Val639=) n.1373G>C c.1593G>C (p.Val531=) c.1932G>C (p.Val644=) c.252G>C (p.Val84=) | |
| X | g.108598839G>T | CA517922487 | COL4A5 | c.1917G>T (p.Val639=) n.1373G>T c.1593G>T (p.Val531=) c.1932G>T (p.Val644=) c.252G>T (p.Val84=) | |
| X | g.108598840G>A | CA413845869 | COL4A5 | c.1918G>A (p.Ala640Thr) n.1374G>A c.1594G>A (p.Ala532Thr) c.1933G>A (p.Ala645Thr) c.253G>A (p.Ala85Thr) | |
| X | g.108598840G>C | CA413845870 | COL4A5 | c.1918G>C (p.Ala640Pro) n.1374G>C c.1594G>C (p.Ala532Pro) c.1933G>C (p.Ala645Pro) c.253G>C (p.Ala85Pro) | |
| X | g.108598840G>T | CA413845871 | COL4A5 | c.1918G>T (p.Ala640Ser) n.1374G>T c.1594G>T (p.Ala532Ser) c.1933G>T (p.Ala645Ser) c.253G>T (p.Ala85Ser) | gnomAD v4 |
| X | g.108598841C>A | CA413845873 | COL4A5 | c.1919C>A (p.Ala640Glu) n.1375C>A c.1595C>A (p.Ala532Glu) c.1934C>A (p.Ala645Glu) c.254C>A (p.Ala85Glu) | |
| X | g.108598841C= | CA2450688863 | COL4A5 | c.1919C= (p.Ala640=) n.1375C= c.1595C= (p.Ala532=) c.1934C= (p.Ala645=) c.254C= (p.Ala85=) | |
| X | g.108598841C>G | CA413845874 | COL4A5 | c.1919C>G (p.Ala640Gly) n.1375C>G c.1595C>G (p.Ala532Gly) c.1934C>G (p.Ala645Gly) c.254C>G (p.Ala85Gly) |