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.108601905_108601957dup | CA258613 | COL4A5 | c.2062_2114dup (p.Ile706AsnfsTer?) n.1518_1570dup c.1738_1790dup (p.Ile598AsnfsTer?) c.2077_2129dup (p.Ile711AsnfsTer?) c.397_449dup (p.Ile151AsnfsTer?) | dbSNP |
| X | g.108601949T>A | CA517922819 | COL4A5 | c.2106T>A (p.Gly702=) n.1562T>A c.1782T>A (p.Gly594=) c.2121T>A (p.Gly707=) c.441T>A (p.Gly147=) | |
| X | g.108601949T>C | CA517922821 | COL4A5 | c.2106T>C (p.Gly702=) n.1562T>C c.1782T>C (p.Gly594=) c.2121T>C (p.Gly707=) c.441T>C (p.Gly147=) | |
| X | g.108601949T>G | CA517922820 | COL4A5 | c.2106T>G (p.Gly702=) n.1562T>G c.1782T>G (p.Gly594=) c.2121T>G (p.Gly707=) c.441T>G (p.Gly147=) | |
| X | g.108601950A= | CA2450689958 | COL4A5 | c.2107A= (p.Ile703=) n.1563A= c.1783A= (p.Ile595=) c.2122A= (p.Ile708=) c.442A= (p.Ile148=) | |
| X | g.108601950A>C | CA413847027 | COL4A5 | c.2107A>C (p.Ile703Leu) n.1563A>C c.1783A>C (p.Ile595Leu) c.2122A>C (p.Ile708Leu) c.442A>C (p.Ile148Leu) | |
| X | g.108601950A>G | CA258617 | COL4A5 | c.2107A>G (p.Ile703Val) n.1563A>G c.1783A>G (p.Ile595Val) c.2122A>G (p.Ile708Val) c.442A>G (p.Ile148Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108601950A>T | CA413847026 | COL4A5 | c.2107A>T (p.Ile703Phe) n.1563A>T c.1783A>T (p.Ile595Phe) c.2122A>T (p.Ile708Phe) c.442A>T (p.Ile148Phe) | |
| X | g.108601951T>A | CA413847028 | COL4A5 | c.2108T>A (p.Ile703Asn) n.1564T>A c.1784T>A (p.Ile595Asn) c.2123T>A (p.Ile708Asn) c.443T>A (p.Ile148Asn) | |
| X | g.108601951T>C | CA413847029 | COL4A5 | c.2108T>C (p.Ile703Thr) n.1564T>C c.1784T>C (p.Ile595Thr) c.2123T>C (p.Ile708Thr) c.443T>C (p.Ile148Thr) | |
| X | g.108601951T>G | CA413847030 | COL4A5 | c.2108T>G (p.Ile703Ser) n.1564T>G c.1784T>G (p.Ile595Ser) c.2123T>G (p.Ile708Ser) c.443T>G (p.Ile148Ser) | |
| X | g.108601952C>A | CA10488853 | COL4A5 | c.2109C>A (p.Ile703=) n.1565C>A c.1785C>A (p.Ile595=) c.2124C>A (p.Ile708=) c.444C>A (p.Ile148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108601952C= | CA2450689959 | COL4A5 | c.2109C= (p.Ile703=) n.1565C= c.1785C= (p.Ile595=) c.2124C= (p.Ile708=) c.444C= (p.Ile148=) | |
| X | g.108601952C>G | CA413847031 | COL4A5 | c.2109C>G (p.Ile703Met) n.1565C>G c.1785C>G (p.Ile595Met) c.2124C>G (p.Ile708Met) c.444C>G (p.Ile148Met) | |
| X | g.108601952C>T | CA517922822 | COL4A5 | c.2109C>T (p.Ile703=) n.1565C>T c.1785C>T (p.Ile595=) c.2124C>T (p.Ile708=) c.444C>T (p.Ile148=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108601953C>A | CA413847032 | COL4A5 | c.2110C>A (p.Pro704Thr) n.1566C>A c.1786C>A (p.Pro596Thr) c.2125C>A (p.Pro709Thr) c.445C>A (p.Pro149Thr) | gnomAD v4 |
| X | g.108601953C= | CA2450689960 | COL4A5 | c.2110C= (p.Pro704=) n.1566C= c.1786C= (p.Pro596=) c.2125C= (p.Pro709=) c.445C= (p.Pro149=) | |
| X | g.108601953C>G | CA413847033 | COL4A5 | c.2110C>G (p.Pro704Ala) n.1566C>G c.1786C>G (p.Pro596Ala) c.2125C>G (p.Pro709Ala) c.445C>G (p.Pro149Ala) | |
| X | g.108601953C>T | CA413847034 | COL4A5 | c.2110C>T (p.Pro704Ser) n.1566C>T c.1786C>T (p.Pro596Ser) c.2125C>T (p.Pro709Ser) c.445C>T (p.Pro149Ser) | dbSNP gnomAD v4 |
| X | g.108601954C>A | CA334040054 | COL4A5 | c.2111C>A (p.Pro704His) n.1567C>A c.1787C>A (p.Pro596His) c.2126C>A (p.Pro709His) c.446C>A (p.Pro149His) | dbSNP gnomAD v4 |
| X | g.108601954C= | CA2450689961 | COL4A5 | c.2111C= (p.Pro704=) n.1567C= c.1787C= (p.Pro596=) c.2126C= (p.Pro709=) c.446C= (p.Pro149=) | |
| X | g.108601954C>G | CA413847035 | COL4A5 | c.2111C>G (p.Pro704Arg) n.1567C>G c.1787C>G (p.Pro596Arg) c.2126C>G (p.Pro709Arg) c.446C>G (p.Pro149Arg) | gnomAD v4 |
| X | g.108601954C>T | CA413847036 | COL4A5 | c.2111C>T (p.Pro704Leu) n.1567C>T c.1787C>T (p.Pro596Leu) c.2126C>T (p.Pro709Leu) c.446C>T (p.Pro149Leu) | gnomAD v4 |
| X | g.108601955T>A | CA517922823 | COL4A5 | c.2112T>A (p.Pro704=) n.1568T>A c.1788T>A (p.Pro596=) c.2127T>A (p.Pro709=) c.447T>A (p.Pro149=) | |
| X | g.108601955T>C | CA517922824 | COL4A5 | c.2112T>C (p.Pro704=) n.1568T>C c.1788T>C (p.Pro596=) c.2127T>C (p.Pro709=) c.447T>C (p.Pro149=) | gnomAD v4 |
| X | g.108601955T>G | CA517922825 | COL4A5 | c.2112T>G (p.Pro704=) n.1568T>G c.1788T>G (p.Pro596=) c.2127T>G (p.Pro709=) c.447T>G (p.Pro149=) | |
| X | g.108601956G>A | CA413847039 | COL4A5 | c.2113G>A (p.Gly705Arg) n.1569G>A c.1789G>A (p.Gly597Arg) c.2128G>A (p.Gly710Arg) c.448G>A (p.Gly150Arg) | |
| X | g.108601956G>C | CA413847038 | COL4A5 | c.2113G>C (p.Gly705Arg) n.1569G>C c.1789G>C (p.Gly597Arg) c.2128G>C (p.Gly710Arg) c.448G>C (p.Gly150Arg) | |
| X | g.108601956G>T | CA413847037 | COL4A5 | c.2113G>T (p.Gly705Ter) n.1569G>T c.1789G>T (p.Gly597Ter) c.2128G>T (p.Gly710Ter) c.448G>T (p.Gly150Ter) | gnomAD v4 |
| X | g.108601957del | CA2580100319 | COL4A5 | c.2114del (p.Gly705GlufsTer?) n.1570del c.1790del (p.Gly597GlufsTer?) c.2129del (p.Gly710GlufsTer?) c.449del (p.Gly150GlufsTer?) | ClinVar |
| X | g.108601957G>A | CA413847040 | COL4A5 | c.2114G>A (p.Gly705Glu) n.1570G>A c.1790G>A (p.Gly597Glu) c.2129G>A (p.Gly710Glu) c.449G>A (p.Gly150Glu) | gnomAD v4 |
| X | g.108601957G>C | CA413847042 | COL4A5 | c.2114G>C (p.Gly705Ala) n.1570G>C c.1790G>C (p.Gly597Ala) c.2129G>C (p.Gly710Ala) c.449G>C (p.Gly150Ala) | |
| X | g.108601957G>T | CA413847041 | COL4A5 | c.2114G>T (p.Gly705Val) n.1570G>T c.1790G>T (p.Gly597Val) c.2129G>T (p.Gly710Val) c.449G>T (p.Gly150Val) | gnomAD v4 |
| X | g.108601958A>C | CA517922826 | COL4A5 | c.2115A>C (p.Gly705=) n.1571A>C c.1791A>C (p.Gly597=) c.2130A>C (p.Gly710=) c.450A>C (p.Gly150=) | gnomAD v4 |
| X | g.108601958A>G | CA517922827 | COL4A5 | c.2115A>G (p.Gly705=) n.1571A>G c.1791A>G (p.Gly597=) c.2130A>G (p.Gly710=) c.450A>G (p.Gly150=) | gnomAD v4 |
| X | g.108601958A>T | CA517922828 | COL4A5 | c.2115A>T (p.Gly705=) n.1571A>T c.1791A>T (p.Gly597=) c.2130A>T (p.Gly710=) c.450A>T (p.Gly150=) | |
| X | g.108601959A= | CA2450689962 | COL4A5 | c.2116A= (p.Ile706=) n.1572A= c.1792A= (p.Ile598=) c.2131A= (p.Ile711=) c.451A= (p.Ile151=) | |
| X | g.108601959A>C | CA413847043 | COL4A5 | c.2116A>C (p.Ile706Leu) n.1572A>C c.1792A>C (p.Ile598Leu) c.2131A>C (p.Ile711Leu) c.451A>C (p.Ile151Leu) | |
| X | g.108601959A>G | CA413847044 | COL4A5 | c.2116A>G (p.Ile706Val) n.1572A>G c.1792A>G (p.Ile598Val) c.2131A>G (p.Ile711Val) c.451A>G (p.Ile151Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108601959A>T | CA413847045 | COL4A5 | c.2116A>T (p.Ile706Phe) n.1572A>T c.1792A>T (p.Ile598Phe) c.2131A>T (p.Ile711Phe) c.451A>T (p.Ile151Phe) | |
| X | g.108601960T>A | CA413847046 | COL4A5 | c.2117T>A (p.Ile706Asn) n.1573T>A c.1793T>A (p.Ile598Asn) c.2132T>A (p.Ile711Asn) c.452T>A (p.Ile151Asn) | |
| X | g.108601960T>C | CA413847047 | COL4A5 | c.2117T>C (p.Ile706Thr) n.1573T>C c.1793T>C (p.Ile598Thr) c.2132T>C (p.Ile711Thr) c.452T>C (p.Ile151Thr) | dbSNP gnomAD v4 |
| X | g.108601960T>G | CA413847048 | COL4A5 | c.2117T>G (p.Ile706Ser) n.1573T>G c.1793T>G (p.Ile598Ser) c.2132T>G (p.Ile711Ser) c.452T>G (p.Ile151Ser) | |
| X | g.108601960T= | CA2450689963 | COL4A5 | c.2117T= (p.Ile706=) n.1573T= c.1793T= (p.Ile598=) c.2132T= (p.Ile711=) c.452T= (p.Ile151=) | |
| X | g.108601961T>A | CA517922829 | COL4A5 | c.2118T>A (p.Ile706=) n.1574T>A c.1794T>A (p.Ile598=) c.2133T>A (p.Ile711=) c.453T>A (p.Ile151=) | gnomAD v4 |
| X | g.108601961T>C | CA517922830 | COL4A5 | c.2118T>C (p.Ile706=) n.1574T>C c.1794T>C (p.Ile598=) c.2133T>C (p.Ile711=) c.453T>C (p.Ile151=) | |
| X | g.108601961T>G | CA413847049 | COL4A5 | c.2118T>G (p.Ile706Met) n.1574T>G c.1794T>G (p.Ile598Met) c.2133T>G (p.Ile711Met) c.453T>G (p.Ile151Met) | |
| X | g.108601962G>A | CA413847050 | COL4A5 | c.2119G>A (p.Gly707Arg) n.1575G>A c.1795G>A (p.Gly599Arg) c.2134G>A (p.Gly712Arg) c.454G>A (p.Gly152Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108601962G>C | CA413847051 | COL4A5 | c.2119G>C (p.Gly707Arg) n.1575G>C c.1795G>C (p.Gly599Arg) c.2134G>C (p.Gly712Arg) c.454G>C (p.Gly152Arg) | |
| X | g.108601962G= | CA2450689964 | COL4A5 | c.2119G= (p.Gly707=) n.1575G= c.1795G= (p.Gly599=) c.2134G= (p.Gly712=) c.454G= (p.Gly152=) |