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.38493656A= | CA1540269551 | LIFR | c.2015T= (p.Met672=) n.2178T= c.393T= c.2069T= (p.Met690=) | |
| 5 | g.38493656A>C | CA359538728 | LIFR | c.2015T>G (p.Met672Arg) n.2178T>G c.393T>G c.2069T>G (p.Met690Arg) | gnomAD v4 |
| 5 | g.38493656A>G | CA359538729 | LIFR | c.2015T>C (p.Met672Thr) n.2178T>C c.393T>C c.2069T>C (p.Met690Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493656A>T | CA359538732 | LIFR | c.2015T>A (p.Met672Lys) n.2178T>A c.393T>A c.2069T>A (p.Met690Lys) | |
| 5 | g.38493657T>A | CA359538738 | LIFR | c.2014A>T (p.Met672Leu) n.2177A>T c.392A>T c.2068A>T (p.Met690Leu) | |
| 5 | g.38493657T>C | CA3242781 | LIFR | c.2014A>G (p.Met672Val) n.2177A>G c.392A>G c.2068A>G (p.Met690Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493657T>G | CA359538736 | LIFR | c.2014A>C (p.Met672Leu) n.2177A>C c.392A>C c.2068A>C (p.Met690Leu) | |
| 5 | g.38493657T= | CA1540269556 | LIFR | c.2014A= (p.Met672=) n.2177A= c.392A= c.2068A= (p.Met690=) | |
| 5 | g.38493658A>C | CA443946203 | LIFR | c.2013T>G (p.Leu671=) n.2176T>G c.391T>G c.2067T>G (p.Leu689=) | |
| 5 | g.38493658A>G | CA443946201 | LIFR | c.2013T>C (p.Leu671=) n.2176T>C c.391T>C c.2067T>C (p.Leu689=) | |
| 5 | g.38493658A>T | CA443946199 | LIFR | c.2013T>A (p.Leu671=) n.2176T>A c.391T>A c.2067T>A (p.Leu689=) | |
| 5 | g.38493659dup | CA559296090 | LIFR | c.2013dup (p.Met672TyrfsTer12) n.2176dup c.391dup c.2067dup (p.Met690TyrfsTer12) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.38493659A>C | CA359538741 | LIFR | c.2012T>G (p.Leu671Arg) n.2175T>G c.390T>G c.2066T>G (p.Leu689Arg) | |
| 5 | g.38493659A>G | CA359538747 | LIFR | c.2012T>C (p.Leu671Pro) n.2175T>C c.390T>C c.2066T>C (p.Leu689Pro) | |
| 5 | g.38493659A>T | CA359538744 | LIFR | c.2012T>A (p.Leu671His) n.2175T>A c.390T>A c.2066T>A (p.Leu689His) | |
| 5 | g.38493660G>A | CA359538749 | LIFR | c.2011C>T (p.Leu671Phe) n.2174C>T c.389C>T c.2065C>T (p.Leu689Phe) | gnomAD v4 |
| 5 | g.38493660G>C | CA359538751 | LIFR | c.2011C>G (p.Leu671Val) n.2174C>G c.389C>G c.2065C>G (p.Leu689Val) | |
| 5 | g.38493660G>T | CA359538753 | LIFR | c.2011C>A (p.Leu671Ile) n.2174C>A c.389C>A c.2065C>A (p.Leu689Ile) | |
| 5 | g.38493660_38493661insT | CA443946220 | LIFR | c.2010_2011insA (p.Leu671ThrfsTer13) n.2173_2174insA c.388_389insA c.2064_2065insA (p.Leu689ThrfsTer13) | |
| 5 | g.38493661G>A | CA3242782 | LIFR | c.2010C>T (p.Cys670=) n.2173C>T c.388C>T c.2064C>T (p.Cys688=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38493661G>C | CA359538758 | LIFR | c.2010C>G (p.Cys670Trp) n.2173C>G c.388C>G c.2064C>G (p.Cys688Trp) | |
| 5 | g.38493661G= | CA1540269578 | LIFR | c.2010C= (p.Cys670=) n.2173C= c.388C= c.2064C= (p.Cys688=) | |
| 5 | g.38493661G>T | CA359538759 | LIFR | c.2010C>A (p.Cys670Ter) n.2173C>A c.388C>A c.2064C>A (p.Cys688Ter) | ClinVar |
| 5 | g.38493661_38493663dup | CA2673628488 | LIFR | c.2008_2010dup (p.Cys670_Leu671insCys) n.2171_2173dup c.386_388dup c.2062_2064dup (p.Cys688_Leu689insCys) | gnomAD v4 |
| 5 | g.38493662C>A | CA359538765 | LIFR | c.2009G>T (p.Cys670Phe) n.2172G>T c.387G>T c.2063G>T (p.Cys688Phe) | |
| 5 | g.38493662C= | CA1540269585 | LIFR | c.2009G= (p.Cys670=) n.2172G= c.387G= c.2063G= (p.Cys688=) | |
| 5 | g.38493662C>G | CA359538763 | LIFR | c.2009G>C (p.Cys670Ser) n.2172G>C c.387G>C c.2063G>C (p.Cys688Ser) | gnomAD v4 |
| 5 | g.38493662C>T | CA117148658 | LIFR | c.2009G>A (p.Cys670Tyr) n.2172G>A c.387G>A c.2063G>A (p.Cys688Tyr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.38493663A>C | CA359538769 | LIFR | c.2008T>G (p.Cys670Gly) n.2171T>G c.386T>G c.2062T>G (p.Cys688Gly) | |
| 5 | g.38493663A>G | CA359538771 | LIFR | c.2008T>C (p.Cys670Arg) n.2171T>C c.386T>C c.2062T>C (p.Cys688Arg) | |
| 5 | g.38493663A>T | CA359538773 | LIFR | c.2008T>A (p.Cys670Ser) n.2171T>A c.386T>A c.2062T>A (p.Cys688Ser) | |
| 5 | g.38493664T>A | CA443946247 | LIFR | c.2007A>T (p.Pro669=) n.2170A>T c.385A>T c.2061A>T (p.Pro687=) | |
| 5 | g.38493664T>C | CA443946242 | LIFR | c.2007A>G (p.Pro669=) n.2170A>G c.385A>G c.2061A>G (p.Pro687=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.38493664T>G | CA443946245 | LIFR | c.2007A>C (p.Pro669=) n.2170A>C c.385A>C c.2061A>C (p.Pro687=) | |
| 5 | g.38493664T= | CA1540269588 | LIFR | c.2007A= (p.Pro669=) n.2170A= c.385A= c.2061A= (p.Pro687=) | |
| 5 | g.38493665G>A | CA359538775 | LIFR | c.2006C>T (p.Pro669Leu) n.2169C>T c.384C>T c.2060C>T (p.Pro687Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493665G>C | CA359538778 | LIFR | c.2006C>G (p.Pro669Arg) n.2169C>G c.384C>G c.2060C>G (p.Pro687Arg) | |
| 5 | g.38493665G= | CA1540269593 | LIFR | c.2006C= (p.Pro669=) n.2169C= c.384C= c.2060C= (p.Pro687=) | |
| 5 | g.38493665G>T | CA359538780 | LIFR | c.2006C>A (p.Pro669Gln) n.2169C>A c.384C>A c.2060C>A (p.Pro687Gln) | dbSNP |
| 5 | g.38493666G>A | CA359538784 | LIFR | c.2005C>T (p.Pro669Ser) n.2168C>T c.383C>T c.2059C>T (p.Pro687Ser) | COSMIC COSMIC |
| 5 | g.38493666G>C | CA359538787 | LIFR | c.2005C>G (p.Pro669Ala) n.2168C>G c.383C>G c.2059C>G (p.Pro687Ala) | |
| 5 | g.38493666G>T | CA359538785 | LIFR | c.2005C>A (p.Pro669Thr) n.2168C>A c.383C>A c.2059C>A (p.Pro687Thr) | |
| 5 | g.38493667T>A | CA359538788 | LIFR | c.2004A>T (p.Glu668Asp) n.2167A>T c.382A>T c.2058A>T (p.Glu686Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493667T>C | CA443946265 | LIFR | c.2004A>G (p.Glu668=) n.2167A>G c.382A>G c.2058A>G (p.Glu686=) | gnomAD v4 |
| 5 | g.38493667T>G | CA359538790 | LIFR | c.2004A>C (p.Glu668Asp) n.2167A>C c.382A>C c.2058A>C (p.Glu686Asp) | gnomAD v4 |
| 5 | g.38493667T= | CA1540269597 | LIFR | c.2004A= (p.Glu668=) n.2167A= c.382A= c.2058A= (p.Glu686=) | |
| 5 | g.38493668T>A | CA359538793 | LIFR | c.2003A>T (p.Glu668Val) n.2166A>T c.381A>T c.2057A>T (p.Glu686Val) | |
| 5 | g.38493668T>C | CA359538796 | LIFR | c.2003A>G (p.Glu668Gly) n.2166A>G c.381A>G c.2057A>G (p.Glu686Gly) | |
| 5 | g.38493668T>G | CA359538797 | LIFR | c.2003A>C (p.Glu668Ala) n.2166A>C c.381A>C c.2057A>C (p.Glu686Ala) | |
| 5 | g.38493669C>A | CA359538800 | LIFR | c.2002G>T (p.Glu668Ter) n.2165G>T c.380G>T c.2056G>T (p.Glu686Ter) | |
| 5 | g.38493669C>G | CA359538802 | LIFR | c.2002G>C (p.Glu668Gln) n.2165G>C c.380G>C c.2056G>C (p.Glu686Gln) | |
| 5 | g.38493669C>T | CA359538804 | LIFR | c.2002G>A (p.Glu668Lys) n.2165G>A c.380G>A c.2056G>A (p.Glu686Lys) | |
| 5 | g.38493670C>A | CA443946281 | LIFR | c.2001G>T (p.Ser667=) n.2164G>T c.379G>T c.2055G>T (p.Ser685=) | |
| 5 | g.38493670C= | CA1540269602 | LIFR | c.2001G= (p.Ser667=) n.2164G= c.379G= c.2055G= (p.Ser685=) | |
| 5 | g.38493670C>G | CA443946283 | LIFR | c.2001G>C (p.Ser667=) n.2164G>C c.379G>C c.2055G>C (p.Ser685=) | |
| 5 | g.38493670C>T | CA443946285 | LIFR | c.2001G>A (p.Ser667=) n.2164G>A c.379G>A c.2055G>A (p.Ser685=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493671G>A | CA3242783 | LIFR | c.2000C>T (p.Ser667Leu) n.2163C>T c.378C>T c.2054C>T (p.Ser685Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493671G>C | CA359538808 | LIFR | c.2000C>G (p.Ser667Trp) n.2163C>G c.378C>G c.2054C>G (p.Ser685Trp) | |
| 5 | g.38493671G= | CA1540269612 | LIFR | c.2000C= (p.Ser667=) n.2163C= c.378C= c.2054C= (p.Ser685=) | |
| 5 | g.38493671G>T | CA359538809 | LIFR | c.2000C>A (p.Ser667Ter) n.2163C>A c.378C>A c.2054C>A (p.Ser685Ter) | gnomAD v4 |
| 5 | g.38493672A>C | CA359538812 | LIFR | c.1999T>G (p.Ser667Ala) n.2162T>G c.377T>G c.2053T>G (p.Ser685Ala) | |
| 5 | g.38493672A>G | CA359538815 | LIFR | c.1999T>C (p.Ser667Pro) n.2162T>C c.377T>C c.2053T>C (p.Ser685Pro) | |
| 5 | g.38493672A>T | CA359538813 | LIFR | c.1999T>A (p.Ser667Thr) n.2162T>A c.377T>A c.2053T>A (p.Ser685Thr) | |
| 5 | g.38493673C>A | CA443946298 | LIFR | c.1998G>T (p.Arg666=) n.2161G>T c.376G>T c.2052G>T (p.Arg684=) | |
| 5 | g.38493673C>G | CA443946300 | LIFR | c.1998G>C (p.Arg666=) n.2161G>C c.376G>C c.2052G>C (p.Arg684=) | |
| 5 | g.38493673C>T | CA443946301 | LIFR | c.1998G>A (p.Arg666=) n.2161G>A c.376G>A c.2052G>A (p.Arg684=) | |
| 5 | g.38493674C>A | CA3242785 | LIFR | c.1997G>T (p.Arg666Leu) n.2160G>T c.375G>T c.2051G>T (p.Arg684Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493674C= | CA1540269630 | LIFR | c.1997G= (p.Arg666=) n.2160G= c.375G= c.2051G= (p.Arg684=) | |
| 5 | g.38493674C>G | CA359538820 | LIFR | c.1997G>C (p.Arg666Pro) n.2160G>C c.375G>C c.2051G>C (p.Arg684Pro) | |
| 5 | g.38493674C>T | CA3242784 | LIFR | c.1997G>A (p.Arg666Gln) n.2160G>A c.375G>A c.2051G>A (p.Arg684Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493678_38493682del | CA2673628515 | LIFR | c.1993_1997del (p.Ser665ValfsTer17) n.2156_2160del c.371_375del c.2047_2051del (p.Ser683ValfsTer17) | gnomAD v4 |
| 5 | g.38493675G>A | CA3242786 | LIFR | c.1996C>T (p.Arg666Trp) n.2159C>T c.374C>T c.2050C>T (p.Arg684Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38493675G>C | CA359538827 | LIFR | c.1996C>G (p.Arg666Gly) n.2159C>G c.374C>G c.2050C>G (p.Arg684Gly) | |
| 5 | g.38493675G= | CA1540269638 | LIFR | c.1996C= (p.Arg666=) n.2159C= c.374C= c.2050C= (p.Arg684=) | |
| 5 | g.38493675G>T | CA443946304 | LIFR | c.1996C>A (p.Arg666=) n.2159C>A c.374C>A c.2050C>A (p.Arg684=) | |
| 5 | g.38493676A>C | CA443946305 | LIFR | c.1995T>G (p.Ser665=) n.2158T>G c.373T>G c.2049T>G (p.Ser683=) | gnomAD v4 |
| 5 | g.38493676A>G | CA443946306 | LIFR | c.1995T>C (p.Ser665=) n.2158T>C c.373T>C c.2049T>C (p.Ser683=) | |
| 5 | g.38493676A>T | CA443946307 | LIFR | c.1995T>A (p.Ser665=) n.2158T>A c.373T>A c.2049T>A (p.Ser683=) | |
| 5 | g.38493677G>A | CA359538829 | LIFR | c.1994C>T (p.Ser665Phe) n.2157C>T c.372C>T c.2048C>T (p.Ser683Phe) | |
| 5 | g.38493677G>C | CA359538831 | LIFR | c.1994C>G (p.Ser665Cys) n.2157C>G c.372C>G c.2048C>G (p.Ser683Cys) | |
| 5 | g.38493677G>T | CA359538834 | LIFR | c.1994C>A (p.Ser665Tyr) n.2157C>A c.372C>A c.2048C>A (p.Ser683Tyr) | COSMIC COSMIC |
| 5 | g.38493677dup | CA2580073270 | LIFR | c.1994dup (p.Arg666SerfsTer18) n.2157dup c.372dup c.2048dup (p.Arg684SerfsTer18) | ClinVar |
| 5 | g.38493678A>C | CA359538836 | LIFR | c.1993T>G (p.Ser665Ala) n.2156T>G c.371T>G c.2047T>G (p.Ser683Ala) | |
| 5 | g.38493678A>G | CA359538838 | LIFR | c.1993T>C (p.Ser665Pro) n.2156T>C c.371T>C c.2047T>C (p.Ser683Pro) | |
| 5 | g.38493678A>T | CA359538841 | LIFR | c.1993T>A (p.Ser665Thr) n.2156T>A c.371T>A c.2047T>A (p.Ser683Thr) | |
| 5 | g.38493679C>A | CA443946312 | LIFR | c.1992G>T (p.Ser664=) n.2155G>T c.370G>T c.2046G>T (p.Ser682=) | dbSNP gnomAD v4 |
| 5 | g.38493679C= | CA1540269655 | LIFR | c.1992G= (p.Ser664=) n.2155G= c.370G= c.2046G= (p.Ser682=) | |
| 5 | g.38493679C>G | CA443946314 | LIFR | c.1992G>C (p.Ser664=) n.2155G>C c.370G>C c.2046G>C (p.Ser682=) | |
| 5 | g.38493679C>T | CA3242787 | LIFR | c.1992G>A (p.Ser664=) n.2155G>A c.370G>A c.2046G>A (p.Ser682=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38493680G>A | CA3242788 | LIFR | c.1991C>T (p.Ser664Leu) n.2154C>T c.369C>T c.2045C>T (p.Ser682Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493680G>C | CA359538843 | LIFR | c.1991C>G (p.Ser664Trp) n.2154C>G c.369C>G c.2045C>G (p.Ser682Trp) | |
| 5 | g.38493680G= | CA1540269663 | LIFR | c.1991C= (p.Ser664=) n.2154C= c.369C= c.2045C= (p.Ser682=) | |
| 5 | g.38493680G>T | CA359538846 | LIFR | c.1991C>A (p.Ser664Ter) n.2154C>A c.369C>A c.2045C>A (p.Ser682Ter) | |
| 5 | g.38493681A>C | CA359538849 | LIFR | c.1990T>G (p.Ser664Ala) n.2153T>G c.368T>G c.2044T>G (p.Ser682Ala) | |
| 5 | g.38493681A>G | CA359538852 | LIFR | c.1990T>C (p.Ser664Pro) n.2153T>C c.368T>C c.2044T>C (p.Ser682Pro) | |
| 5 | g.38493681A>T | CA359538853 | LIFR | c.1990T>A (p.Ser664Thr) n.2153T>A c.368T>A c.2044T>A (p.Ser682Thr) | |
| 5 | g.38493682G>A | CA443946317 | LIFR | c.1989C>T (p.Asn663=) n.2152C>T c.367C>T c.2043C>T (p.Asn681=) | gnomAD v4 |
| 5 | g.38493682G>C | CA359538855 | LIFR | c.1989C>G (p.Asn663Lys) n.2152C>G c.367C>G c.2043C>G (p.Asn681Lys) | |
| 5 | g.38493682G>T | CA359538856 | LIFR | c.1989C>A (p.Asn663Lys) n.2152C>A c.367C>A c.2043C>A (p.Asn681Lys) | |
| 5 | g.38493683T>A | CA359538858 | LIFR | c.1988A>T (p.Asn663Ile) n.2151A>T c.366A>T c.2042A>T (p.Asn681Ile) | gnomAD v4 |
| 5 | g.38493683T>C | CA359538860 | LIFR | c.1988A>G (p.Asn663Ser) n.2151A>G c.366A>G c.2042A>G (p.Asn681Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493683T>G | CA359538862 | LIFR | c.1988A>C (p.Asn663Thr) n.2151A>C c.366A>C c.2042A>C (p.Asn681Thr) | |
| 5 | g.38493683T= | CA1540269666 | LIFR | c.1988A= (p.Asn663=) n.2151A= c.366A= c.2042A= (p.Asn681=) | |
| 5 | g.38493684T>A | CA359538865 | LIFR | c.1987A>T (p.Asn663Tyr) n.2150A>T c.365A>T c.2041A>T (p.Asn681Tyr) | |
| 5 | g.38493684T>C | CA359538868 | LIFR | c.1987A>G (p.Asn663Asp) n.2150A>G c.365A>G c.2041A>G (p.Asn681Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493684T>G | CA359538871 | LIFR | c.1987A>C (p.Asn663His) n.2150A>C c.365A>C c.2041A>C (p.Asn681His) | |
| 5 | g.38493684T= | CA1540269675 | LIFR | c.1987A= (p.Asn663=) n.2150A= c.365A= c.2041A= (p.Asn681=) | |
| 5 | g.38493685A= | CA1540269676 | LIFR | c.1986T= (p.Cys662=) n.2149T= c.364T= c.2040T= (p.Cys680=) | |
| 5 | g.38493685A>C | CA359538876 | LIFR | c.1986T>G (p.Cys662Trp) n.2149T>G c.364T>G c.2040T>G (p.Cys680Trp) | dbSNP |
| 5 | g.38493685A>G | CA443946318 | LIFR | c.1986T>C (p.Cys662=) n.2149T>C c.364T>C c.2040T>C (p.Cys680=) | |
| 5 | g.38493685A>T | CA359538874 | LIFR | c.1986T>A (p.Cys662Ter) n.2149T>A c.364T>A c.2040T>A (p.Cys680Ter) | |
| 5 | g.38493686C>A | CA359538879 | LIFR | c.1985G>T (p.Cys662Phe) n.2148G>T c.363G>T c.2039G>T (p.Cys680Phe) | |
| 5 | g.38493686C>G | CA359538881 | LIFR | c.1985G>C (p.Cys662Ser) n.2148G>C c.363G>C c.2039G>C (p.Cys680Ser) | |
| 5 | g.38493686C>T | CA359538880 | LIFR | c.1985G>A (p.Cys662Tyr) n.2148G>A c.363G>A c.2039G>A (p.Cys680Tyr) | gnomAD v4 COSMIC COSMIC |
| 5 | g.38493687A= | CA1540269681 | LIFR | c.1984T= (p.Cys662=) n.2147T= c.362T= c.2038T= (p.Cys680=) | |
| 5 | g.38493687A>C | CA359538885 | LIFR | c.1984T>G (p.Cys662Gly) n.2147T>G c.362T>G c.2038T>G (p.Cys680Gly) | gnomAD v4 |
| 5 | g.38493687A>G | CA359538886 | LIFR | c.1984T>C (p.Cys662Arg) n.2147T>C c.362T>C c.2038T>C (p.Cys680Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493687A>T | CA359538889 | LIFR | c.1984T>A (p.Cys662Ser) n.2147T>A c.362T>A c.2038T>A (p.Cys680Ser) | |
| 5 | g.38493688C>A | CA359538892 | LIFR | c.1983G>T (p.Trp661Cys) n.2146G>T c.361G>T c.2037G>T (p.Trp679Cys) | |
| 5 | g.38493688C= | CA1540269690 | LIFR | c.1983G= (p.Trp661=) n.2146G= c.361G= c.2037G= (p.Trp679=) | |
| 5 | g.38493688C>G | CA359538893 | LIFR | c.1983G>C (p.Trp661Cys) n.2146G>C c.361G>C c.2037G>C (p.Trp679Cys) | |
| 5 | g.38493688C>T | CA117148706 | LIFR | c.1983G>A (p.Trp661Ter) n.2146G>A c.361G>A c.2037G>A (p.Trp679Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.38493689C>A | CA359538914 | LIFR | c.1982G>T (p.Trp661Leu) n.2145G>T c.360G>T c.2036G>T (p.Trp679Leu) | |
| 5 | g.38493689C>G | CA359538908 | LIFR | c.1982G>C (p.Trp661Ser) n.2145G>C c.360G>C c.2036G>C (p.Trp679Ser) | |
| 5 | g.38493689C>T | CA359538911 | LIFR | c.1982G>A (p.Trp661Ter) n.2145G>A c.360G>A c.2036G>A (p.Trp679Ter) | |
| 5 | g.38493690A>C | CA359538918 | LIFR | c.1981T>G (p.Trp661Gly) n.2144T>G c.359T>G c.2035T>G (p.Trp679Gly) | |
| 5 | g.38493690A>G | CA359538921 | LIFR | c.1981T>C (p.Trp661Arg) n.2144T>C c.359T>C c.2035T>C (p.Trp679Arg) | |
| 5 | g.38493690A>T | CA359538929 | LIFR | c.1981T>A (p.Trp661Arg) n.2144T>A c.359T>A c.2035T>A (p.Trp679Arg) | |
| 5 | g.38493691C>A | CA359538932 | LIFR | c.1980G>T (p.Lys660Asn) n.2143G>T c.358G>T c.2034G>T (p.Lys678Asn) | |
| 5 | g.38493691C>G | CA359538935 | LIFR | c.1980G>C (p.Lys660Asn) n.2143G>C c.358G>C c.2034G>C (p.Lys678Asn) | |
| 5 | g.38493691C>T | CA443946319 | LIFR | c.1980G>A (p.Lys660=) n.2143G>A c.358G>A c.2034G>A (p.Lys678=) | |
| 5 | g.38493692T>A | CA117148716 | LIFR | c.1979A>T (p.Lys660Met) n.2142A>T c.357A>T c.2033A>T (p.Lys678Met) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493692T>C | CA359538943 | LIFR | c.1979A>G (p.Lys660Arg) n.2142A>G c.357A>G c.2033A>G (p.Lys678Arg) | |
| 5 | g.38493692T>G | CA359538937 | LIFR | c.1979A>C (p.Lys660Thr) n.2142A>C c.357A>C c.2033A>C (p.Lys678Thr) | |
| 5 | g.38493692T= | CA1540269695 | LIFR | c.1979A= (p.Lys660=) n.2142A= c.357A= c.2033A= (p.Lys678=) | |
| 5 | g.38493693T>A | CA359538946 | LIFR | c.1978A>T (p.Lys660Ter) n.2141A>T c.356A>T c.2032A>T (p.Lys678Ter) | |
| 5 | g.38493693T>C | CA359538949 | LIFR | c.1978A>G (p.Lys660Glu) n.2141A>G c.356A>G c.2032A>G (p.Lys678Glu) | |
| 5 | g.38493693T>G | CA359538952 | LIFR | c.1978A>C (p.Lys660Gln) n.2141A>C c.356A>C c.2032A>C (p.Lys678Gln) | |
| 5 | g.38493694A= | CA1540269700 | LIFR | c.1977T= (p.Ile659=) n.2140T= c.355T= c.2031T= (p.Ile677=) | |
| 5 | g.38493694A>C | CA359538955 | LIFR | c.1977T>G (p.Ile659Met) n.2140T>G c.355T>G c.2031T>G (p.Ile677Met) | |
| 5 | g.38493694A>G | CA443946320 | LIFR | c.1977T>C (p.Ile659=) n.2140T>C c.355T>C c.2031T>C (p.Ile677=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493694A>T | CA3242789 | LIFR | c.1977T>A (p.Ile659=) n.2140T>A c.355T>A c.2031T>A (p.Ile677=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493695A>C | CA359538959 | LIFR | c.1976T>G (p.Ile659Ser) n.2139T>G c.354T>G c.2030T>G (p.Ile677Ser) | |
| 5 | g.38493695A>G | CA359538961 | LIFR | c.1976T>C (p.Ile659Thr) n.2139T>C c.354T>C c.2030T>C (p.Ile677Thr) | |
| 5 | g.38493695A>T | CA359538963 | LIFR | c.1976T>A (p.Ile659Asn) n.2139T>A c.354T>A c.2030T>A (p.Ile677Asn) | |
| 5 | g.38493696T>A | CA359538966 | LIFR | c.1975A>T (p.Ile659Phe) n.2138A>T c.353A>T c.2029A>T (p.Ile677Phe) | ClinVar gnomAD v4 |
| 5 | g.38493696T>C | CA359538969 | LIFR | c.1975A>G (p.Ile659Val) n.2138A>G c.353A>G c.2029A>G (p.Ile677Val) | |
| 5 | g.38493696T>G | CA359538971 | LIFR | c.1975A>C (p.Ile659Leu) n.2138A>C c.353A>C c.2029A>C (p.Ile677Leu) | dbSNP |
| 5 | g.38493696T= | CA1540269704 | LIFR | c.1975A= (p.Ile659=) n.2138A= c.353A= c.2029A= (p.Ile677=) | |
| 5 | g.38493697G>A | CA3242790 | LIFR | c.1974C>T (p.Val658=) n.2137C>T c.352C>T c.2028C>T (p.Val676=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493697G>C | CA443946330 | LIFR | c.1974C>G (p.Val658=) n.2137C>G c.352C>G c.2028C>G (p.Val676=) | |
| 5 | g.38493697G= | CA1540269712 | LIFR | c.1974C= (p.Val658=) n.2137C= c.352C= c.2028C= (p.Val676=) | |
| 5 | g.38493697G>T | CA443946332 | LIFR | c.1974C>A (p.Val658=) n.2137C>A c.352C>A c.2028C>A (p.Val676=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493697_38493698insTA | CA2578294162 | LIFR | c.1973_1974insTA (p.Ile659ThrfsTer28) n.2136_2137insTA c.351_352insTA c.2027_2028insTA (p.Ile677ThrfsTer28) | gnomAD v4 |
| 5 | g.38493698A>C | CA359538983 | LIFR | c.1973T>G (p.Val658Gly) n.2136T>G c.351T>G c.2027T>G (p.Val676Gly) | gnomAD v4 |
| 5 | g.38493698A>G | CA359538979 | LIFR | c.1973T>C (p.Val658Ala) n.2136T>C c.351T>C c.2027T>C (p.Val676Ala) | |
| 5 | g.38493698A>T | CA359538980 | LIFR | c.1973T>A (p.Val658Asp) n.2136T>A c.351T>A c.2027T>A (p.Val676Asp) | |
| 5 | g.38493699C>A | CA359538985 | LIFR | c.1972G>T (p.Val658Phe) n.2135G>T c.350G>T c.2026G>T (p.Val676Phe) | |
| 5 | g.38493699C= | CA1540269719 | LIFR | c.1972G= (p.Val658=) n.2135G= c.350G= c.2026G= (p.Val676=) | |
| 5 | g.38493699C>G | CA359538987 | LIFR | c.1972G>C (p.Val658Leu) n.2135G>C c.350G>C c.2026G>C (p.Val676Leu) | |
| 5 | g.38493699C>T | CA3242791 | LIFR | c.1972G>A (p.Val658Ile) n.2135G>A c.350G>A c.2026G>A (p.Val676Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493700del | CA2578294164 | LIFR | c.1971del (p.Tyr657Ter) n.2134del c.349del c.2025del (p.Tyr675Ter) | gnomAD v4 |
| 5 | g.38493700G>A | CA3242792 | LIFR | c.1971C>T (p.Tyr657=) n.2134C>T c.349C>T c.2025C>T (p.Tyr675=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493700G>C | CA359538993 | LIFR | c.1971C>G (p.Tyr657Ter) n.2134C>G c.349C>G c.2025C>G (p.Tyr675Ter) | dbSNP |
| 5 | g.38493700G= | CA1540269727 | LIFR | c.1971C= (p.Tyr657=) n.2134C= c.349C= c.2025C= (p.Tyr675=) | |
| 5 | g.38493700G>T | CA359538995 | LIFR | c.1971C>A (p.Tyr657Ter) n.2134C>A c.349C>A c.2025C>A (p.Tyr675Ter) | |
| 5 | g.38493701T>A | CA359538998 | LIFR | c.1970A>T (p.Tyr657Phe) n.2133A>T c.348A>T c.2024A>T (p.Tyr675Phe) | gnomAD v4 |
| 5 | g.38493701T>C | CA359538999 | LIFR | c.1970A>G (p.Tyr657Cys) n.2133A>G c.348A>G c.2024A>G (p.Tyr675Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493701T>G | CA359539001 | LIFR | c.1970A>C (p.Tyr657Ser) n.2133A>C c.348A>C c.2024A>C (p.Tyr675Ser) | |
| 5 | g.38493701T= | CA1540269731 | LIFR | c.1970A= (p.Tyr657=) n.2133A= c.348A= c.2024A= (p.Tyr675=) | |
| 5 | g.38493702A>C | CA359539004 | LIFR | c.1969T>G (p.Tyr657Asp) n.2132T>G c.347T>G c.2023T>G (p.Tyr675Asp) | |
| 5 | g.38493702A>G | CA359539006 | LIFR | c.1969T>C (p.Tyr657His) n.2132T>C c.347T>C c.2023T>C (p.Tyr675His) | |
| 5 | g.38493702A>T | CA359539008 | LIFR | c.1969T>A (p.Tyr657Asn) n.2132T>A c.347T>A c.2023T>A (p.Tyr675Asn) | |
| 5 | g.38493703G>A | CA443946361 | LIFR | c.1968C>T (p.Asp656=) n.2131C>T c.346C>T c.2022C>T (p.Asp674=) | |
| 5 | g.38493703G>C | CA359539011 | LIFR | c.1968C>G (p.Asp656Glu) n.2131C>G c.346C>G c.2022C>G (p.Asp674Glu) | gnomAD v4 |
| 5 | g.38493703G>T | CA359539012 | LIFR | c.1968C>A (p.Asp656Glu) n.2131C>A c.346C>A c.2022C>A (p.Asp674Glu) | |
| 5 | g.38493704T>A | CA359539015 | LIFR | c.1967A>T (p.Asp656Val) n.2130A>T c.345A>T c.2021A>T (p.Asp674Val) | |
| 5 | g.38493704T>C | CA359539018 | LIFR | c.1967A>G (p.Asp656Gly) n.2130A>G c.345A>G c.2021A>G (p.Asp674Gly) | dbSNP gnomAD v2 |
| 5 | g.38493704T>G | CA359539020 | LIFR | c.1967A>C (p.Asp656Ala) n.2130A>C c.345A>C c.2021A>C (p.Asp674Ala) | |
| 5 | g.38493704T= | CA1540269735 | LIFR | c.1967A= (p.Asp656=) n.2130A= c.345A= c.2021A= (p.Asp674=) | |
| 5 | g.38493705C>A | CA359539030 | LIFR | c.1966G>T (p.Asp656Tyr) n.2129G>T c.344G>T c.2020G>T (p.Asp674Tyr) | |
| 5 | g.38493705C= | CA1540269749 | LIFR | c.1966G= (p.Asp656=) n.2129G= c.344G= c.2020G= (p.Asp674=) | |
| 5 | g.38493705C>G | CA359539032 | LIFR | c.1966G>C (p.Asp656His) n.2129G>C c.344G>C c.2020G>C (p.Asp674His) | |
| 5 | g.38493705C>T | CA3242793 | LIFR | c.1966G>A (p.Asp656Asn) n.2129G>A c.344G>A c.2020G>A (p.Asp674Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493706G>A | CA3242794 | LIFR | c.1965C>T (p.Cys655=) n.2128C>T c.343C>T c.2019C>T (p.Cys673=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38493706G>C | CA359539035 | LIFR | c.1965C>G (p.Cys655Trp) n.2128C>G c.343C>G c.2019C>G (p.Cys673Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493706G= | CA1540269758 | LIFR | c.1965C= (p.Cys655=) n.2128C= c.343C= c.2019C= (p.Cys673=) | |
| 5 | g.38493706G>T | CA359539037 | LIFR | c.1965C>A (p.Cys655Ter) n.2128C>A c.343C>A c.2019C>A (p.Cys673Ter) | |
| 5 | g.38493707C>A | CA359539040 | LIFR | c.1964G>T (p.Cys655Phe) n.2127G>T c.342G>T c.2018G>T (p.Cys673Phe) | COSMIC COSMIC |
| 5 | g.38493707C>G | CA359539042 | LIFR | c.1964G>C (p.Cys655Ser) n.2127G>C c.342G>C c.2018G>C (p.Cys673Ser) | |
| 5 | g.38493707C>T | CA359539044 | LIFR | c.1964G>A (p.Cys655Tyr) n.2127G>A c.342G>A c.2018G>A (p.Cys673Tyr) | |
| 5 | g.38493708A= | CA1540269776 | LIFR | c.1963T= (p.Cys655=) n.2126T= c.341T= c.2017T= (p.Cys673=) | |
| 5 | g.38493708A>C | CA359539046 | LIFR | c.1963T>G (p.Cys655Gly) n.2126T>G c.341T>G c.2017T>G (p.Cys673Gly) | |
| 5 | g.38493708A>G | CA359539050 | LIFR | c.1963T>C (p.Cys655Arg) n.2126T>C c.341T>C c.2017T>C (p.Cys673Arg) | |
| 5 | g.38493708A>T | CA359539048 | LIFR | c.1963T>A (p.Cys655Ser) n.2126T>A c.341T>A c.2017T>A (p.Cys673Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493709A>C | CA443946395 | LIFR | c.1962T>G (p.Thr654=) n.2125T>G c.340T>G c.2016T>G (p.Thr672=) | gnomAD v4 |
| 5 | g.38493709A>G | CA443946393 | LIFR | c.1962T>C (p.Thr654=) n.2125T>C c.340T>C c.2016T>C (p.Thr672=) | |
| 5 | g.38493709A>T | CA443946391 | LIFR | c.1962T>A (p.Thr654=) n.2125T>A c.340T>A c.2016T>A (p.Thr672=) | |
| 5 | g.38493710G>A | CA3242795 | LIFR | c.1961C>T (p.Thr654Ile) n.2124C>T c.339C>T c.2015C>T (p.Thr672Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493710G>C | CA359539058 | LIFR | c.1961C>G (p.Thr654Ser) n.2124C>G c.339C>G c.2015C>G (p.Thr672Ser) | |
| 5 | g.38493710G= | CA1540269778 | LIFR | c.1961C= (p.Thr654=) n.2124C= c.339C= c.2015C= (p.Thr672=) | |
| 5 | g.38493710G>T | CA359539055 | LIFR | c.1961C>A (p.Thr654Asn) n.2124C>A c.339C>A c.2015C>A (p.Thr672Asn) | |
| 5 | g.38493711T>A | CA359539061 | LIFR | c.1960A>T (p.Thr654Ser) n.2123A>T c.338A>T c.2014A>T (p.Thr672Ser) | |
| 5 | g.38493711T>C | CA359539062 | LIFR | c.1960A>G (p.Thr654Ala) n.2123A>G c.338A>G c.2014A>G (p.Thr672Ala) | ClinVar dbSNP |
| 5 | g.38493711T>G | CA359539064 | LIFR | c.1960A>C (p.Thr654Pro) n.2123A>C c.338A>C c.2014A>C (p.Thr672Pro) | |
| 5 | g.38493712C>A | CA359539067 | LIFR | c.1959G>T (p.Met653Ile) n.2122G>T c.337G>T c.2013G>T (p.Met671Ile) | |
| 5 | g.38493712C>G | CA359539068 | LIFR | c.1959G>C (p.Met653Ile) n.2122G>C c.337G>C c.2013G>C (p.Met671Ile) | |
| 5 | g.38493712C>T | CA359539071 | LIFR | c.1959G>A (p.Met653Ile) n.2122G>A c.337G>A c.2013G>A (p.Met671Ile) | |
| 5 | g.38493713A>C | CA359539072 | LIFR | c.1958T>G (p.Met653Arg) n.2121T>G c.336T>G c.2012T>G (p.Met671Arg) | |
| 5 | g.38493713A>G | CA359539074 | LIFR | c.1958T>C (p.Met653Thr) n.2121T>C c.336T>C c.2012T>C (p.Met671Thr) | |
| 5 | g.38493713A>T | CA359539076 | LIFR | c.1958T>A (p.Met653Lys) n.2121T>A c.336T>A c.2012T>A (p.Met671Lys) | |
| 5 | g.38493714T>A | CA359539078 | LIFR | c.1957A>T (p.Met653Leu) n.2120A>T c.335A>T c.2011A>T (p.Met671Leu) | |
| 5 | g.38493714T>C | CA359539081 | LIFR | c.1957A>G (p.Met653Val) n.2120A>G c.335A>G c.2011A>G (p.Met671Val) | gnomAD v4 |
| 5 | g.38493714T>G | CA359539091 | LIFR | c.1957A>C (p.Met653Leu) n.2120A>C c.335A>C c.2011A>C (p.Met671Leu) | |
| 5 | g.38493715G>A | CA443946423 | LIFR | c.1956C>T (p.Asn652=) n.2119C>T c.334C>T c.2010C>T (p.Asn670=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493715G>C | CA359539097 | LIFR | c.1956C>G (p.Asn652Lys) n.2119C>G c.334C>G c.2010C>G (p.Asn670Lys) | |
| 5 | g.38493715G= | CA1540269780 | LIFR | c.1956C= (p.Asn652=) n.2119C= c.334C= c.2010C= (p.Asn670=) | |
| 5 | g.38493715G>T | CA359539094 | LIFR | c.1956C>A (p.Asn652Lys) n.2119C>A c.334C>A c.2010C>A (p.Asn670Lys) | |
| 5 | g.38493716T>A | CA359539101 | LIFR | c.1955A>T (p.Asn652Ile) n.2118A>T c.333A>T c.2009A>T (p.Asn670Ile) | |
| 5 | g.38493716T>C | CA359539106 | LIFR | c.1955A>G (p.Asn652Ser) n.2118A>G c.333A>G c.2009A>G (p.Asn670Ser) | dbSNP gnomAD v4 |
| 5 | g.38493716T>G | CA3242796 | LIFR | c.1955A>C (p.Asn652Thr) n.2118A>C c.333A>C c.2009A>C (p.Asn670Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493716T= | CA1540269788 | LIFR | c.1955A= (p.Asn652=) n.2118A= c.333A= c.2009A= (p.Asn670=) | |
| 5 | g.38493717T>A | CA359539110 | LIFR | c.1954A>T (p.Asn652Tyr) n.2117A>T c.332A>T c.2008A>T (p.Asn670Tyr) | |
| 5 | g.38493717T>C | CA359539112 | LIFR | c.1954A>G (p.Asn652Asp) n.2117A>G c.332A>G c.2008A>G (p.Asn670Asp) | |
| 5 | g.38493717T>G | CA359539113 | LIFR | c.1954A>C (p.Asn652His) n.2117A>C c.332A>C c.2008A>C (p.Asn670His) | |
| 5 | g.38493718G>A | CA443946442 | LIFR | c.1953C>T (p.Pro651=) n.2116C>T c.331C>T c.2007C>T (p.Pro669=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493718G>C | CA443946444 | LIFR | c.1953C>G (p.Pro651=) n.2116C>G c.331C>G c.2007C>G (p.Pro669=) | |
| 5 | g.38493718G= | CA1540269794 | LIFR | c.1953C= (p.Pro651=) n.2116C= c.331C= c.2007C= (p.Pro669=) | |
| 5 | g.38493718G>T | CA443946446 | LIFR | c.1953C>A (p.Pro651=) n.2116C>A c.331C>A c.2007C>A (p.Pro669=) | |
| 5 | g.38493719G>A | CA3242797 | LIFR | c.1952C>T (p.Pro651Leu) n.2115C>T c.330C>T c.2006C>T (p.Pro669Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493719G>C | CA359539117 | LIFR | c.1952C>G (p.Pro651Arg) n.2115C>G c.330C>G c.2006C>G (p.Pro669Arg) | |
| 5 | g.38493719G= | CA1540269800 | LIFR | c.1952C= (p.Pro651=) n.2115C= c.330C= c.2006C= (p.Pro669=) | |
| 5 | g.38493719G>T | CA359539123 | LIFR | c.1952C>A (p.Pro651His) n.2115C>A c.330C>A c.2006C>A (p.Pro669His) | gnomAD v4 |
| 5 | g.38493720G>A | CA359539128 | LIFR | c.1951C>T (p.Pro651Ser) n.2114C>T c.329C>T c.2005C>T (p.Pro669Ser) | |
| 5 | g.38493720G>C | CA359539130 | LIFR | c.1951C>G (p.Pro651Ala) n.2114C>G c.329C>G c.2005C>G (p.Pro669Ala) | |
| 5 | g.38493720G>T | CA359539132 | LIFR | c.1951C>A (p.Pro651Thr) n.2114C>A c.329C>A c.2005C>A (p.Pro669Thr) | |
| 5 | g.38493721G>A | CA443946461 | LIFR | c.1950C>T (p.Asp650=) n.2113C>T c.328C>T c.2004C>T (p.Asp668=) | |
| 5 | g.38493721G>C | CA359539137 | LIFR | c.1950C>G (p.Asp650Glu) n.2113C>G c.328C>G c.2004C>G (p.Asp668Glu) | |
| 5 | g.38493721G= | CA1540269808 | LIFR | c.1950C= (p.Asp650=) n.2113C= c.328C= c.2004C= (p.Asp668=) | |
| 5 | g.38493721G>T | CA117148764 | LIFR | c.1950C>A (p.Asp650Glu) n.2113C>A c.328C>A c.2004C>A (p.Asp668Glu) | dbSNP gnomAD v4 |
| 5 | g.38493722T>A | CA359539143 | LIFR | c.1949A>T (p.Asp650Val) n.2112A>T c.327A>T c.2003A>T (p.Asp668Val) | |
| 5 | g.38493722T>C | CA359539138 | LIFR | c.1949A>G (p.Asp650Gly) n.2112A>G c.327A>G c.2003A>G (p.Asp668Gly) | |
| 5 | g.38493722T>G | CA359539141 | LIFR | c.1949A>C (p.Asp650Ala) n.2112A>C c.327A>C c.2003A>C (p.Asp668Ala) | |
| 5 | g.38493723C>A | CA359539145 | LIFR | c.1948G>T (p.Asp650Tyr) n.2111G>T c.326G>T c.2002G>T (p.Asp668Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493723C= | CA1540269819 | LIFR | c.1948G= (p.Asp650=) n.2111G= c.326G= c.2002G= (p.Asp668=) | |
| 5 | g.38493723C>G | CA359539147 | LIFR | c.1948G>C (p.Asp650His) n.2111G>C c.326G>C c.2002G>C (p.Asp668His) | |
| 5 | g.38493723C>T | CA3242798 | LIFR | c.1948G>A (p.Asp650Asn) n.2111G>A c.326G>A c.2002G>A (p.Asp668Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38493724G>A | CA3242799 | LIFR | c.1947C>T (p.Tyr649=) n.2110C>T c.325C>T c.2001C>T (p.Tyr667=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493724G>C | CA359539151 | LIFR | c.1947C>G (p.Tyr649Ter) n.2110C>G c.325C>G c.2001C>G (p.Tyr667Ter) | ClinVar gnomAD v4 |
| 5 | g.38493724G= | CA1540269827 | LIFR | c.1947C= (p.Tyr649=) n.2110C= c.325C= c.2001C= (p.Tyr667=) | |
| 5 | g.38493724G>T | CA359539152 | LIFR | c.1947C>A (p.Tyr649Ter) n.2110C>A c.325C>A c.2001C>A (p.Tyr667Ter) | |
| 5 | g.38493725T>A | CA359539161 | LIFR | c.1946A>T (p.Tyr649Phe) n.2109A>T c.324A>T c.2000A>T (p.Tyr667Phe) | |
| 5 | g.38493725T>C | CA359539155 | LIFR | c.1946A>G (p.Tyr649Cys) n.2109A>G c.324A>G c.2000A>G (p.Tyr667Cys) | |
| 5 | g.38493725T>G | CA359539158 | LIFR | c.1946A>C (p.Tyr649Ser) n.2109A>C c.324A>C c.2000A>C (p.Tyr667Ser) | |
| 5 | g.38493726A>C | CA359539164 | LIFR | c.1945T>G (p.Tyr649Asp) n.2108T>G c.323T>G c.1999T>G (p.Tyr667Asp) | |
| 5 | g.38493726A>G | CA359539166 | LIFR | c.1945T>C (p.Tyr649His) n.2108T>C c.323T>C c.1999T>C (p.Tyr667His) | |
| 5 | g.38493726A>T | CA359539168 | LIFR | c.1945T>A (p.Tyr649Asn) n.2108T>A c.323T>A c.1999T>A (p.Tyr667Asn) | |
| 5 | g.38493727A>C | CA359539170 | LIFR | c.1944T>G (p.His648Gln) n.2107T>G c.322T>G c.1998T>G (p.His666Gln) | |
| 5 | g.38493727A>G | CA443946494 | LIFR | c.1944T>C (p.His648=) n.2107T>C c.322T>C c.1998T>C (p.His666=) | |
| 5 | g.38493727A>T | CA359539172 | LIFR | c.1944T>A (p.His648Gln) n.2107T>A c.322T>A c.1998T>A (p.His666Gln) | |
| 5 | g.38493728T>A | CA359539177 | LIFR | c.1943A>T (p.His648Leu) n.2106A>T c.321A>T c.1997A>T (p.His666Leu) | |
| 5 | g.38493728T>C | CA359539174 | LIFR | c.1943A>G (p.His648Arg) n.2106A>G c.321A>G c.1997A>G (p.His666Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493728T>G | CA359539176 | LIFR | c.1943A>C (p.His648Pro) n.2106A>C c.321A>C c.1997A>C (p.His666Pro) | |
| 5 | g.38493728T= | CA1540269830 | LIFR | c.1943A= (p.His648=) n.2106A= c.321A= c.1997A= (p.His666=) | |
| 5 | g.38493729G>A | CA359539178 | LIFR | c.1942C>T (p.His648Tyr) n.2105C>T c.320C>T c.1996C>T (p.His666Tyr) | |
| 5 | g.38493729G>C | CA359539180 | LIFR | c.1942C>G (p.His648Asp) n.2105C>G c.320C>G c.1996C>G (p.His666Asp) | |
| 5 | g.38493729G>T | CA359539182 | LIFR | c.1942C>A (p.His648Asn) n.2105C>A c.320C>A c.1996C>A (p.His666Asn) | |
| 5 | g.38493730C>A | CA359539184 | LIFR | c.1941G>T (p.Trp647Cys) n.2104G>T c.319G>T c.1995G>T (p.Trp665Cys) | |
| 5 | g.38493730C>G | CA359539187 | LIFR | c.1941G>C (p.Trp647Cys) n.2104G>C c.319G>C c.1995G>C (p.Trp665Cys) | |
| 5 | g.38493730C>T | CA359539190 | LIFR | c.1941G>A (p.Trp647Ter) n.2104G>A c.319G>A c.1995G>A (p.Trp665Ter) | gnomAD v4 |
| 5 | g.38493731C>A | CA359539193 | LIFR | c.1940G>T (p.Trp647Leu) n.2103G>T c.318G>T c.1994G>T (p.Trp665Leu) | |
| 5 | g.38493731C= | CA1540269838 | LIFR | c.1940G= (p.Trp647=) n.2103G= c.318G= c.1994G= (p.Trp665=) | |
| 5 | g.38493731C>G | CA359539195 | LIFR | c.1940G>C (p.Trp647Ser) n.2103G>C c.318G>C c.1994G>C (p.Trp665Ser) | |
| 5 | g.38493731C>T | CA359539197 | LIFR | c.1940G>A (p.Trp647Ter) n.2103G>A c.318G>A c.1994G>A (p.Trp665Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493732A>C | CA359539199 | LIFR | c.1939T>G (p.Trp647Gly) n.2102T>G c.317T>G c.1993T>G (p.Trp665Gly) | |
| 5 | g.38493732A>G | CA359539203 | LIFR | c.1939T>C (p.Trp647Arg) n.2102T>C c.317T>C c.1993T>C (p.Trp665Arg) | |
| 5 | g.38493732A>T | CA359539204 | LIFR | c.1939T>A (p.Trp647Arg) n.2102T>A c.317T>A c.1993T>A (p.Trp665Arg) | |
| 5 | g.38493733G>A | CA443946527 | LIFR | c.1938C>T (p.Thr646=) n.2101C>T c.316C>T c.1992C>T (p.Thr664=) | |
| 5 | g.38493733G>C | CA443946526 | LIFR | c.1938C>G (p.Thr646=) n.2101C>G c.316C>G c.1992C>G (p.Thr664=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493733G= | CA1540269844 | LIFR | c.1938C= (p.Thr646=) n.2101C= c.316C= c.1992C= (p.Thr664=) | |
| 5 | g.38493733G>T | CA443946524 | LIFR | c.1938C>A (p.Thr646=) n.2101C>A c.316C>A c.1992C>A (p.Thr664=) | |
| 5 | g.38493734G>A | CA359539206 | LIFR | c.1937C>T (p.Thr646Ile) n.2100C>T c.315C>T c.1991C>T (p.Thr664Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493734G>C | CA359539208 | LIFR | c.1937C>G (p.Thr646Ser) n.2100C>G c.315C>G c.1991C>G (p.Thr664Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38493734G= | CA1540269852 | LIFR | c.1937C= (p.Thr646=) n.2100C= c.315C= c.1991C= (p.Thr664=) | |
| 5 | g.38493734G>T | CA3242800 | LIFR | c.1937C>A (p.Thr646Asn) n.2100C>A c.315C>A c.1991C>A (p.Thr664Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493735T>A | CA359539211 | LIFR | c.1936A>T (p.Thr646Ser) n.2099A>T c.314A>T c.1990A>T (p.Thr664Ser) | |
| 5 | g.38493735T>C | CA359539215 | LIFR | c.1936A>G (p.Thr646Ala) n.2099A>G c.314A>G c.1990A>G (p.Thr664Ala) | |
| 5 | g.38493735T>G | CA359539213 | LIFR | c.1936A>C (p.Thr646Pro) n.2099A>C c.314A>C c.1990A>C (p.Thr664Pro) | |
| 5 | g.38493735_38493737delinsTGA | CA1540269865 | LIFR | c.1934_1936delinsTCA (p.Leu645=) n.2097_2099delinsTCA c.312_314delinsTCA c.1988_1990delinsTCA (p.Leu663=) | |
| 5 | g.38493735_38493738delinsTGAG | CA1540269869 | LIFR | c.1933_1936delinsCTCA (p.Leu645=) n.2096_2099delinsCTCA c.311_314delinsCTCA c.1987_1990delinsCTCA (p.Leu663=) | |
| 5 | g.38493736G>A | CA3242802 | LIFR | c.1935C>T (p.Leu645=) n.2098C>T c.313C>T c.1989C>T (p.Leu663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493736G>C | CA443946541 | LIFR | c.1935C>G (p.Leu645=) n.2098C>G c.313C>G c.1989C>G (p.Leu663=) | |
| 5 | g.38493736G= | CA1540269878 | LIFR | c.1935C= (p.Leu645=) n.2098C= c.313C= c.1989C= (p.Leu663=) | |
| 5 | g.38493736G>T | CA443946543 | LIFR | c.1935C>A (p.Leu645=) n.2098C>A c.313C>A c.1989C>A (p.Leu663=) | |
| 5 | g.38493737_38493738del | CA3242801 | LIFR | c.1934_1935del (p.Leu645HisfsTer15) n.2097_2098del c.312_313del c.1988_1989del (p.Leu663HisfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493739_38493741del | CA1540269875 | LIFR | c.1933_1935del (p.Leu645del) n.2096_2098del c.311_313del c.1987_1989del (p.Leu663del) | dbSNP |
| 5 | g.38493737A>C | CA359539219 | LIFR | c.1934T>G (p.Leu645Arg) n.2097T>G c.312T>G c.1988T>G (p.Leu663Arg) | |
| 5 | g.38493737A>G | CA359539220 | LIFR | c.1934T>C (p.Leu645Pro) n.2097T>C c.312T>C c.1988T>C (p.Leu663Pro) | |
| 5 | g.38493737A>T | CA359539221 | LIFR | c.1934T>A (p.Leu645His) n.2097T>A c.312T>A c.1988T>A (p.Leu663His) | |
| 5 | g.38493738G>A | CA359539222 | LIFR | c.1933C>T (p.Leu645Phe) n.2096C>T c.311C>T c.1987C>T (p.Leu663Phe) | |
| 5 | g.38493738G>C | CA359539223 | LIFR | c.1933C>G (p.Leu645Val) n.2096C>G c.311C>G c.1987C>G (p.Leu663Val) | |
| 5 | g.38493738G>T | CA359539225 | LIFR | c.1933C>A (p.Leu645Ile) n.2096C>A c.311C>A c.1987C>A (p.Leu663Ile) | |
| 5 | g.38493739G>A | CA3242803 | LIFR | c.1932C>T (p.Leu644=) n.2095C>T c.310C>T c.1986C>T (p.Leu662=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38493739G>C | CA443946561 | LIFR | c.1932C>G (p.Leu644=) n.2095C>G c.310C>G c.1986C>G (p.Leu662=) | |
| 5 | g.38493739G= | CA1540269882 | LIFR | c.1932C= (p.Leu644=) n.2095C= c.310C= c.1986C= (p.Leu662=) | |
| 5 | g.38493739G>T | CA443946559 | LIFR | c.1932C>A (p.Leu644=) n.2095C>A c.310C>A c.1986C>A (p.Leu662=) | |
| 5 | g.38493740A>C | CA359539228 | LIFR | c.1931T>G (p.Leu644Arg) n.2094T>G c.309T>G c.1985T>G (p.Leu662Arg) | |
| 5 | g.38493740A>G | CA359539229 | LIFR | c.1931T>C (p.Leu644Pro) n.2094T>C c.309T>C c.1985T>C (p.Leu662Pro) | |
| 5 | g.38493740A>T | CA359539231 | LIFR | c.1931T>A (p.Leu644His) n.2094T>A c.309T>A c.1985T>A (p.Leu662His) | |
| 5 | g.38493741G>A | CA359539235 | LIFR | c.1930C>T (p.Leu644Phe) n.2093C>T c.308C>T c.1984C>T (p.Leu662Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38493741G>C | CA359539232 | LIFR | c.1930C>G (p.Leu644Val) n.2093C>G c.308C>G c.1984C>G (p.Leu662Val) | |
| 5 | g.38493741G= | CA1540269907 | LIFR | c.1930C= (p.Leu644=) n.2093C= c.308C= c.1984C= (p.Leu662=) | |
| 5 | g.38493741G>T | CA359539233 | LIFR | c.1930C>A (p.Leu644Ile) n.2093C>A c.308C>A c.1984C>A (p.Leu662Ile) | COSMIC COSMIC |
| 5 | g.38493742A>C | CA359539236 | LIFR | c.1929T>G (p.Ile643Met) n.2092T>G c.307T>G c.1983T>G (p.Ile661Met) | |
| 5 | g.38493742A>G | CA443946576 | LIFR | c.1929T>C (p.Ile643=) n.2092T>C c.307T>C c.1983T>C (p.Ile661=) | ClinVar |
| 5 | g.38493742A>T | CA443946578 | LIFR | c.1929T>A (p.Ile643=) n.2092T>A c.307T>A c.1983T>A (p.Ile661=) | |
| 5 | g.38493742_38493743insT | CA2673628632 | LIFR | c.1928_1929insA (p.Leu644SerfsTer17) n.2091_2092insA c.306_307insA c.1982_1983insA (p.Leu662SerfsTer17) | gnomAD v4 |
| 5 | g.38493743A>C | CA359539237 | LIFR | c.1928T>G (p.Ile643Ser) n.2091T>G c.306T>G c.1982T>G (p.Ile661Ser) | |
| 5 | g.38493743A>G | CA359539238 | LIFR | c.1928T>C (p.Ile643Thr) n.2091T>C c.306T>C c.1982T>C (p.Ile661Thr) | |
| 5 | g.38493743A>T | CA359539239 | LIFR | c.1928T>A (p.Ile643Asn) n.2091T>A c.306T>A c.1982T>A (p.Ile661Asn) | |
| 5 | g.38493744T>A | CA359539242 | LIFR | c.1927A>T (p.Ile643Phe) n.2090A>T c.305A>T c.1981A>T (p.Ile661Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493744T>C | CA359539247 | LIFR | c.1927A>G (p.Ile643Val) n.2090A>G c.305A>G c.1981A>G (p.Ile661Val) | |
| 5 | g.38493744T>G | CA359539249 | LIFR | c.1927A>C (p.Ile643Leu) n.2090A>C c.305A>C c.1981A>C (p.Ile661Leu) | |
| 5 | g.38493744T= | CA1540269917 | LIFR | c.1927A= (p.Ile643=) n.2090A= c.305A= c.1981A= (p.Ile661=) | |
| 5 | g.38493745C>A | CA3242804 | LIFR | c.1926G>T (p.Gly642=) n.2089G>T c.304G>T c.1980G>T (p.Gly660=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493745C= | CA1540269923 | LIFR | c.1926G= (p.Gly642=) n.2089G= c.304G= c.1980G= (p.Gly660=) | |
| 5 | g.38493745C>G | CA443946595 | LIFR | c.1926G>C (p.Gly642=) n.2089G>C c.304G>C c.1980G>C (p.Gly660=) | |
| 5 | g.38493745C>T | CA443946593 | LIFR | c.1926G>A (p.Gly642=) n.2089G>A c.304G>A c.1980G>A (p.Gly660=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493746C>A | CA359539251 | LIFR | c.1925G>T (p.Gly642Val) n.2088G>T c.303G>T c.1979G>T (p.Gly660Val) | |
| 5 | g.38493746C= | CA1540269929 | LIFR | c.1925G= (p.Gly642=) n.2088G= c.303G= c.1979G= (p.Gly660=) | |
| 5 | g.38493746C>G | CA359539254 | LIFR | c.1925G>C (p.Gly642Ala) n.2088G>C c.303G>C c.1979G>C (p.Gly660Ala) | gnomAD v4 |
| 5 | g.38493746C>T | CA117148826 | LIFR | c.1925G>A (p.Gly642Glu) n.2088G>A c.303G>A c.1979G>A (p.Gly660Glu) | dbSNP gnomAD v2 |
| 5 | g.38493747C>A | CA359539261 | LIFR | c.1924G>T (p.Gly642Trp) n.2087G>T c.302G>T c.1978G>T (p.Gly660Trp) | |
| 5 | g.38493747C>G | CA359539259 | LIFR | c.1924G>C (p.Gly642Arg) n.2087G>C c.302G>C c.1978G>C (p.Gly660Arg) | |
| 5 | g.38493747C>T | CA359539256 | LIFR | c.1924G>A (p.Gly642Arg) n.2087G>A c.302G>A c.1978G>A (p.Gly660Arg) | |
| 5 | g.38493748C>A | CA359539263 | LIFR | c.1923G>T (p.Lys641Asn) n.2086G>T c.301G>T c.1977G>T (p.Lys659Asn) | |
| 5 | g.38493748C= | CA1540269937 | LIFR | c.1923G= (p.Lys641=) n.2086G= c.301G= c.1977G= (p.Lys659=) | |
| 5 | g.38493748C>G | CA359539265 | LIFR | c.1923G>C (p.Lys641Asn) n.2086G>C c.301G>C c.1977G>C (p.Lys659Asn) | gnomAD v4 |
| 5 | g.38493748C>T | CA3242805 | LIFR | c.1923G>A (p.Lys641=) n.2086G>A c.301G>A c.1977G>A (p.Lys659=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38493748_38493749delinsCT | CA1540269941 | LIFR | c.1922_1923delinsAG (p.Lys641=) n.2085_2086delinsAG c.300_301delinsAG c.1976_1977delinsAG (p.Lys659=) | |
| 5 | g.38493749T>A | CA359539271 | LIFR | c.1922A>T (p.Lys641Met) n.2085A>T c.300A>T c.1976A>T (p.Lys659Met) | |
| 5 | g.38493749T>C | CA359539274 | LIFR | c.1922A>G (p.Lys641Arg) n.2085A>G c.300A>G c.1976A>G (p.Lys659Arg) | |
| 5 | g.38493749T>G | CA359539276 | LIFR | c.1922A>C (p.Lys641Thr) n.2085A>C c.300A>C c.1976A>C (p.Lys659Thr) | |
| 5 | g.38493751del | CA810408788 | LIFR | c.1922del (p.Lys641ArgfsTer13) n.2085del c.300del c.1976del (p.Lys659ArgfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493750T>A | CA359539278 | LIFR | c.1921A>T (p.Lys641Ter) n.2084A>T c.299A>T c.1975A>T (p.Lys659Ter) | |
| 5 | g.38493750T>C | CA359539281 | LIFR | c.1921A>G (p.Lys641Glu) n.2084A>G c.299A>G c.1975A>G (p.Lys659Glu) | |
| 5 | g.38493750T>G | CA359539284 | LIFR | c.1921A>C (p.Lys641Gln) n.2084A>C c.299A>C c.1975A>C (p.Lys659Gln) | |
| 5 | g.38493751T>A | CA443946621 | LIFR | c.1920A>T (p.Gly640=) n.2083A>T c.298A>T c.1974A>T (p.Gly658=) | gnomAD v4 |
| 5 | g.38493751T>C | CA443946623 | LIFR | c.1920A>G (p.Gly640=) n.2083A>G c.298A>G c.1974A>G (p.Gly658=) | |
| 5 | g.38493751T>G | CA443946625 | LIFR | c.1920A>C (p.Gly640=) n.2083A>C c.298A>C c.1974A>C (p.Gly658=) | ClinVar |
| 5 | g.38493752C>A | CA359539290 | LIFR | c.1919G>T (p.Gly640Val) n.2082G>T c.297G>T c.1973G>T (p.Gly658Val) | |
| 5 | g.38493752C>G | CA359539293 | LIFR | c.1919G>C (p.Gly640Ala) n.2082G>C c.297G>C c.1973G>C (p.Gly658Ala) | |
| 5 | g.38493752C>T | CA359539295 | LIFR | c.1919G>A (p.Gly640Glu) n.2082G>A c.297G>A c.1973G>A (p.Gly658Glu) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.38493753C>A | CA359539301 | LIFR | c.1918G>T (p.Gly640Ter) n.2081G>T c.296G>T c.1972G>T (p.Gly658Ter) | |
| 5 | g.38493753C>G | CA359539300 | LIFR | c.1918G>C (p.Gly640Arg) n.2081G>C c.296G>C c.1972G>C (p.Gly658Arg) | gnomAD v4 |
| 5 | g.38493753C>T | CA359539298 | LIFR | c.1918G>A (p.Gly640Arg) n.2081G>A c.296G>A c.1972G>A (p.Gly658Arg) | |
| 5 | g.38493754C>A | CA359539303 | LIFR | c.1917G>T (p.Met639Ile) n.2080G>T c.295G>T c.1971G>T (p.Met657Ile) | |
| 5 | g.38493754C= | CA1540269953 | LIFR | c.1917G= (p.Met639=) n.2080G= c.295G= c.1971G= (p.Met657=) | |
| 5 | g.38493754C>G | CA359539306 | LIFR | c.1917G>C (p.Met639Ile) n.2080G>C c.295G>C c.1971G>C (p.Met657Ile) | gnomAD v4 |
| 5 | g.38493754C>T | CA3242806 | LIFR | c.1917G>A (p.Met639Ile) n.2080G>A c.295G>A c.1971G>A (p.Met657Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493755A>C | CA359539309 | LIFR | c.1916T>G (p.Met639Arg) n.2079T>G c.294T>G c.1970T>G (p.Met657Arg) | |
| 5 | g.38493755A>G | CA359539311 | LIFR | c.1916T>C (p.Met639Thr) n.2079T>C c.294T>C c.1970T>C (p.Met657Thr) | |
| 5 | g.38493755A>T | CA359539312 | LIFR | c.1916T>A (p.Met639Lys) n.2079T>A c.294T>A c.1970T>A (p.Met657Lys) | |
| 5 | g.38493756T>A | CA3242807 | LIFR | c.1915A>T (p.Met639Leu) n.2078A>T c.293A>T c.1969A>T (p.Met657Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38493756T>C | CA359539316 | LIFR | c.1915A>G (p.Met639Val) n.2078A>G c.293A>G c.1969A>G (p.Met657Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38493756T>G | CA359539317 | LIFR | c.1915A>C (p.Met639Leu) n.2078A>C c.293A>C c.1969A>C (p.Met657Leu) | |
| 5 | g.38493756T= | CA1540269960 | LIFR | c.1915A= (p.Met639=) n.2078A= c.293A= c.1969A= (p.Met657=) |