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 |
|---|---|---|---|---|---|
| 5 | g.38496415_38496441del | CA2673628836 | LIFR | c.1828_1854del (p.Lys610_Pro618del) n.1991_2017del c.206_232del c.1882_1908del (p.Lys628_Pro636del) | gnomAD v4 |
| 5 | g.38496414G>A | CA359539649 | LIFR | c.1853C>T (p.Pro618Leu) n.2016C>T c.231C>T c.1907C>T (p.Pro636Leu) | |
| 5 | g.38496414G>C | CA359539646 | LIFR | c.1853C>G (p.Pro618Arg) n.2016C>G c.231C>G c.1907C>G (p.Pro636Arg) | |
| 5 | g.38496414G>T | CA359539645 | LIFR | c.1853C>A (p.Pro618His) n.2016C>A c.231C>A c.1907C>A (p.Pro636His) | |
| 5 | g.38496415G>A | CA359539651 | LIFR | c.1852C>T (p.Pro618Ser) n.2015C>T c.230C>T c.1906C>T (p.Pro636Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38496415G>C | CA359539653 | LIFR | c.1852C>G (p.Pro618Ala) n.2015C>G c.230C>G c.1906C>G (p.Pro636Ala) | |
| 5 | g.38496415G= | CA1540245455 | LIFR | c.1852C= (p.Pro618=) n.2015C= c.230C= c.1906C= (p.Pro636=) | |
| 5 | g.38496415G>T | CA359539655 | LIFR | c.1852C>A (p.Pro618Thr) n.2015C>A c.230C>A c.1906C>A (p.Pro636Thr) | |
| 5 | g.38496416T>A | CA443946852 | LIFR | c.1851A>T (p.Pro617=) n.2014A>T c.229A>T c.1905A>T (p.Pro635=) | |
| 5 | g.38496416T>C | CA443946853 | LIFR | c.1851A>G (p.Pro617=) n.2014A>G c.229A>G c.1905A>G (p.Pro635=) | ClinVar gnomAD v4 |
| 5 | g.38496416T>G | CA443946854 | LIFR | c.1851A>C (p.Pro617=) n.2014A>C c.229A>C c.1905A>C (p.Pro635=) | |
| 5 | g.38496417G>A | CA359539657 | LIFR | c.1850C>T (p.Pro617Leu) n.2013C>T c.228C>T c.1904C>T (p.Pro635Leu) | |
| 5 | g.38496417G>C | CA359539659 | LIFR | c.1850C>G (p.Pro617Arg) n.2013C>G c.228C>G c.1904C>G (p.Pro635Arg) | gnomAD v4 |
| 5 | g.38496417G>T | CA359539661 | LIFR | c.1850C>A (p.Pro617Gln) n.2013C>A c.228C>A c.1904C>A (p.Pro635Gln) | |
| 5 | g.38496418G>A | CA359539663 | LIFR | c.1849C>T (p.Pro617Ser) n.2012C>T c.227C>T c.1903C>T (p.Pro635Ser) | |
| 5 | g.38496418G>C | CA359539667 | LIFR | c.1849C>G (p.Pro617Ala) n.2012C>G c.227C>G c.1903C>G (p.Pro635Ala) | |
| 5 | g.38496418G>T | CA359539665 | LIFR | c.1849C>A (p.Pro617Thr) n.2012C>A c.227C>A c.1903C>A (p.Pro635Thr) | |
| 5 | g.38496419T>A | CA443946855 | LIFR | c.1848A>T (p.Ser616=) n.2011A>T c.226A>T c.1902A>T (p.Ser634=) | |
| 5 | g.38496419T>C | CA443946856 | LIFR | c.1848A>G (p.Ser616=) n.2011A>G c.226A>G c.1902A>G (p.Ser634=) | |
| 5 | g.38496419T>G | CA443946857 | LIFR | c.1848A>C (p.Ser616=) n.2011A>C c.226A>C c.1902A>C (p.Ser634=) | |
| 5 | g.38496420G>A | CA359539669 | LIFR | c.1847C>T (p.Ser616Leu) n.2010C>T c.225C>T c.1901C>T (p.Ser634Leu) | COSMIC COSMIC |
| 5 | g.38496420G>C | CA359539671 | LIFR | c.1847C>G (p.Ser616Ter) n.2010C>G c.225C>G c.1901C>G (p.Ser634Ter) | gnomAD v4 |
| 5 | g.38496420G>T | CA359539672 | LIFR | c.1847C>A (p.Ser616Ter) n.2010C>A c.225C>A c.1901C>A (p.Ser634Ter) | |
| 5 | g.38496421A>C | CA359539675 | LIFR | c.1846T>G (p.Ser616Ala) n.2009T>G c.224T>G c.1900T>G (p.Ser634Ala) | |
| 5 | g.38496421A>G | CA359539676 | LIFR | c.1846T>C (p.Ser616Pro) n.2009T>C c.224T>C c.1900T>C (p.Ser634Pro) | |
| 5 | g.38496421A>T | CA359539678 | LIFR | c.1846T>A (p.Ser616Thr) n.2009T>A c.224T>A c.1900T>A (p.Ser634Thr) | |
| 5 | g.38496422T>A | CA443946858 | LIFR | c.1845A>T (p.Ser615=) n.2008A>T c.223A>T c.1899A>T (p.Ser633=) | |
| 5 | g.38496422T>C | CA443946859 | LIFR | c.1845A>G (p.Ser615=) n.2008A>G c.223A>G c.1899A>G (p.Ser633=) | |
| 5 | g.38496422T>G | CA443946860 | LIFR | c.1845A>C (p.Ser615=) n.2008A>C c.223A>C c.1899A>C (p.Ser633=) | |
| 5 | g.38496423G>A | CA359539681 | LIFR | c.1844C>T (p.Ser615Leu) n.2007C>T c.222C>T c.1898C>T (p.Ser633Leu) | dbSNP |
| 5 | g.38496423G>C | CA359539682 | LIFR | c.1844C>G (p.Ser615Ter) n.2007C>G c.222C>G c.1898C>G (p.Ser633Ter) | ClinVar |
| 5 | g.38496423G= | CA1540245459 | LIFR | c.1844C= (p.Ser615=) n.2007C= c.222C= c.1898C= (p.Ser633=) | |
| 5 | g.38496423G>T | CA359539684 | LIFR | c.1844C>A (p.Ser615Ter) n.2007C>A c.222C>A c.1898C>A (p.Ser633Ter) | |
| 5 | g.38496424A= | CA1540245462 | LIFR | c.1843T= (p.Ser615=) n.2006T= c.221T= c.1897T= (p.Ser633=) | |
| 5 | g.38496424A>C | CA359539686 | LIFR | c.1843T>G (p.Ser615Ala) n.2006T>G c.221T>G c.1897T>G (p.Ser633Ala) | |
| 5 | g.38496424A>G | CA117151142 | LIFR | c.1843T>C (p.Ser615Pro) n.2006T>C c.221T>C c.1897T>C (p.Ser633Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38496424A>T | CA359539688 | LIFR | c.1843T>A (p.Ser615Thr) n.2006T>A c.221T>A c.1897T>A (p.Ser633Thr) | |
| 5 | g.38496425G>A | CA443946861 | LIFR | c.1842C>T (p.Gly614=) n.2005C>T c.220C>T c.1896C>T (p.Gly632=) | ClinVar dbSNP |
| 5 | g.38496425G>C | CA443946862 | LIFR | c.1842C>G (p.Gly614=) n.2005C>G c.220C>G c.1896C>G (p.Gly632=) | |
| 5 | g.38496425G= | CA1540245467 | LIFR | c.1842C= (p.Gly614=) n.2005C= c.220C= c.1896C= (p.Gly632=) | |
| 5 | g.38496425G>T | CA443946863 | LIFR | c.1842C>A (p.Gly614=) n.2005C>A c.220C>A c.1896C>A (p.Gly632=) | |
| 5 | g.38496426C>A | CA359539692 | LIFR | c.1841G>T (p.Gly614Val) n.2004G>T c.219G>T c.1895G>T (p.Gly632Val) | |
| 5 | g.38496426C>G | CA359539694 | LIFR | c.1841G>C (p.Gly614Ala) n.2004G>C c.219G>C c.1895G>C (p.Gly632Ala) | |
| 5 | g.38496426C>T | CA359539690 | LIFR | c.1841G>A (p.Gly614Asp) n.2004G>A c.219G>A c.1895G>A (p.Gly632Asp) | gnomAD v4 |
| 5 | g.38496427C>A | CA359539696 | LIFR | c.1840G>T (p.Gly614Cys) n.2003G>T c.218G>T c.1894G>T (p.Gly632Cys) | |
| 5 | g.38496427C>G | CA359539700 | LIFR | c.1840G>C (p.Gly614Arg) n.2003G>C c.218G>C c.1894G>C (p.Gly632Arg) | gnomAD v4 |
| 5 | g.38496427C>T | CA359539698 | LIFR | c.1840G>A (p.Gly614Ser) n.2003G>A c.218G>A c.1894G>A (p.Gly632Ser) | |
| 5 | g.38496428C>A | CA443946865 | LIFR | c.1839G>T (p.Val613=) n.2002G>T c.217G>T c.1893G>T (p.Val631=) | |
| 5 | g.38496428C>G | CA443946866 | LIFR | c.1839G>C (p.Val613=) n.2002G>C c.217G>C c.1893G>C (p.Val631=) | |
| 5 | g.38496428C>T | CA443946864 | LIFR | c.1839G>A (p.Val613=) n.2002G>A c.217G>A c.1893G>A (p.Val631=) |