Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.111119023T>ACA360613449WDR36c.1807T>A (p.Cys603Ser)
c.1975T>A (p.Cys659Ser)
gnomAD v4
5g.111119023T>CCA360613451WDR36c.1807T>C (p.Cys603Arg)
c.1975T>C (p.Cys659Arg)
5g.111119023T>GCA360613450WDR36c.1807T>G (p.Cys603Gly)
c.1975T>G (p.Cys659Gly)
5g.111119024G>ACA360613452WDR36c.1808G>A (p.Cys603Tyr)
c.1976G>A (p.Cys659Tyr)
5g.111119024G>CCA360613453WDR36c.1808G>C (p.Cys603Ser)
c.1976G>C (p.Cys659Ser)
5g.111119024G>TCA360613454WDR36c.1808G>T (p.Cys603Phe)
c.1976G>T (p.Cys659Phe)
5g.111119025C>ACA360613455WDR36c.1809C>A (p.Cys603Ter)
c.1977C>A (p.Cys659Ter)
5g.111119025C>GCA360613456WDR36c.1809C>G (p.Cys603Trp)
c.1977C>G (p.Cys659Trp)
gnomAD v4
5g.111119025C>TCA445744818WDR36c.1809C>T (p.Cys603=)
c.1977C>T (p.Cys659=)
5g.111119026T>ACA360613457WDR36c.1810T>A (p.Phe604Ile)
c.1978T>A (p.Phe660Ile)
5g.111119026T>CCA360613458WDR36c.1810T>C (p.Phe604Leu)
c.1978T>C (p.Phe660Leu)
5g.111119026T>GCA360613459WDR36c.1810T>G (p.Phe604Val)
c.1978T>G (p.Phe660Val)
5g.111119030delCA2578377219WDR36c.1814del (p.Leu605CysfsTer?)
c.1982del (p.Leu661CysfsTer?)
5g.111119027T>ACA360613460WDR36c.1811T>A (p.Phe604Tyr)
c.1979T>A (p.Phe660Tyr)
5g.111119027T>CCA360613461WDR36c.1811T>C (p.Phe604Ser)
c.1979T>C (p.Phe660Ser)
5g.111119027T>GCA360613462WDR36c.1811T>G (p.Phe604Cys)
c.1979T>G (p.Phe660Cys)
5g.111119028T>ACA360613463WDR36c.1812T>A (p.Phe604Leu)
c.1980T>A (p.Phe660Leu)
5g.111119028T>CCA445744819WDR36c.1812T>C (p.Phe604=)
c.1980T>C (p.Phe660=)
5g.111119028T>GCA360613464WDR36c.1812T>G (p.Phe604Leu)
c.1980T>G (p.Phe660Leu)
5g.111119029T>ACA360613465WDR36c.1813T>A (p.Leu605Met)
c.1981T>A (p.Leu661Met)
5g.111119029T>CCA3365883WDR36c.1813T>C (p.Leu605=)
c.1981T>C (p.Leu661=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119029T>GCA360613466WDR36c.1813T>G (p.Leu605Val)
c.1981T>G (p.Leu661Val)
5g.111119029T=CA1572628324WDR36c.1813T= (p.Leu605=)
c.1981T= (p.Leu661=)
5g.111119030T>ACA360613467WDR36c.1814T>A (p.Leu605Ter)
c.1982T>A (p.Leu661Ter)
5g.111119030T>CCA360613468WDR36c.1814T>C (p.Leu605Ser)
c.1982T>C (p.Leu661Ser)
5g.111119030T>GCA360613469WDR36c.1814T>G (p.Leu605Trp)
c.1982T>G (p.Leu661Trp)
dbSNP gnomAD v4
5g.111119030T=CA1572628325WDR36c.1814T= (p.Leu605=)
c.1982T= (p.Leu661=)
5g.111119031G>ACA445744820WDR36c.1815G>A (p.Leu605=)
c.1983G>A (p.Leu661=)
gnomAD v4
5g.111119031G>CCA360613470WDR36c.1815G>C (p.Leu605Phe)
c.1983G>C (p.Leu661Phe)
5g.111119031G>TCA360613471WDR36c.1815G>T (p.Leu605Phe)
c.1983G>T (p.Leu661Phe)
5g.111119032T>ACA360613472WDR36c.1816T>A (p.Leu606Met)
c.1984T>A (p.Leu662Met)
5g.111119032T>CCA445744821WDR36c.1816T>C (p.Leu606=)
c.1984T>C (p.Leu662=)
gnomAD v4
5g.111119032T>GCA360613473WDR36c.1816T>G (p.Leu606Val)
c.1984T>G (p.Leu662Val)
5g.111119033T>ACA360613474WDR36c.1817T>A (p.Leu606Ter)
c.1985T>A (p.Leu662Ter)
5g.111119033T>CCA360613475WDR36c.1817T>C (p.Leu606Ser)
c.1985T>C (p.Leu662Ser)
5g.111119033T>GCA360613476WDR36c.1817T>G (p.Leu606Trp)
c.1985T>G (p.Leu662Trp)
dbSNP gnomAD v3 gnomAD v4
5g.111119033T=CA1572628326WDR36c.1817T= (p.Leu606=)
c.1985T= (p.Leu662=)
5g.111119034G>ACA124932496WDR36c.1818G>A (p.Leu606=)
c.1986G>A (p.Leu662=)
dbSNP gnomAD v3 gnomAD v4
5g.111119034G>CCA360613478WDR36c.1818G>C (p.Leu606Phe)
c.1986G>C (p.Leu662Phe)
5g.111119034G=CA1572628327WDR36c.1818G= (p.Leu606=)
c.1986G= (p.Leu662=)
5g.111119034G>TCA360613477WDR36c.1818G>T (p.Leu606Phe)
c.1986G>T (p.Leu662Phe)
5g.111119035G>ACA360613481WDR36c.1819G>A (p.Asp607Asn)
c.1987G>A (p.Asp663Asn)
gnomAD v4
5g.111119035G>CCA360613479WDR36c.1819G>C (p.Asp607His)
c.1987G>C (p.Asp663His)
5g.111119035G>TCA360613480WDR36c.1819G>T (p.Asp607Tyr)
c.1987G>T (p.Asp663Tyr)
5g.111119036A>CCA360613482WDR36c.1820A>C (p.Asp607Ala)
c.1988A>C (p.Asp663Ala)
5g.111119036A>GCA360613483WDR36c.1820A>G (p.Asp607Gly)
c.1988A>G (p.Asp663Gly)
5g.111119036A>TCA360613484WDR36c.1820A>T (p.Asp607Val)
c.1988A>T (p.Asp663Val)
5g.111119037C>ACA360613485WDR36c.1821C>A (p.Asp607Glu)
c.1989C>A (p.Asp663Glu)
5g.111119037C>GCA360613486WDR36c.1821C>G (p.Asp607Glu)
c.1989C>G (p.Asp663Glu)
5g.111119037C>TCA445744822WDR36c.1821C>T (p.Asp607=)
c.1989C>T (p.Asp663=)
5g.111119038T>ACA360613487WDR36c.1822T>A (p.Ser608Thr)
c.1990T>A (p.Ser664Thr)
5g.111119038T>CCA360613489WDR36c.1822T>C (p.Ser608Pro)
c.1990T>C (p.Ser664Pro)
5g.111119038T>GCA360613488WDR36c.1822T>G (p.Ser608Ala)
c.1990T>G (p.Ser664Ala)
5g.111119039C>ACA360613490WDR36c.1823C>A (p.Ser608Ter)
c.1991C>A (p.Ser664Ter)
5g.111119039C=CA1572628328WDR36c.1823C= (p.Ser608=)
c.1991C= (p.Ser664=)
5g.111119039C>GCA360613491WDR36c.1823C>G (p.Ser608Trp)
c.1991C>G (p.Ser664Trp)
dbSNP gnomAD v2 gnomAD v4
5g.111119039C>TCA3365884WDR36c.1823C>T (p.Ser608Leu)
c.1991C>T (p.Ser664Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119040G>ACA3365885WDR36c.1824G>A (p.Ser608=)
c.1992G>A (p.Ser664=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.111119040G>CCA445744823WDR36c.1824G>C (p.Ser608=)
c.1992G>C (p.Ser664=)
5g.111119040G=CA1572628329WDR36c.1824G= (p.Ser608=)
c.1992G= (p.Ser664=)
5g.111119040G>TCA445744824WDR36c.1824G>T (p.Ser608=)
c.1992G>T (p.Ser664=)
gnomAD v4
5g.111119041G>ACA360613492WDR36c.1825G>A (p.Ala609Thr)
c.1993G>A (p.Ala665Thr)
5g.111119041G>CCA360613494WDR36c.1825G>C (p.Ala609Pro)
c.1993G>C (p.Ala665Pro)
5g.111119041G>TCA360613493WDR36c.1825G>T (p.Ala609Ser)
c.1993G>T (p.Ala665Ser)
5g.111119042C>ACA360613495WDR36c.1826C>A (p.Ala609Asp)
c.1994C>A (p.Ala665Asp)
5g.111119042C=CA1572628330WDR36c.1826C= (p.Ala609=)
c.1994C= (p.Ala665=)
5g.111119042C>GCA360613496WDR36c.1826C>G (p.Ala609Gly)
c.1994C>G (p.Ala665Gly)
5g.111119042C>TCA124932505WDR36c.1826C>T (p.Ala609Val)
c.1994C>T (p.Ala665Val)
dbSNP gnomAD v4
5g.111119043T>ACA445744825WDR36c.1827T>A (p.Ala609=)
c.1995T>A (p.Ala665=)
gnomAD v4
5g.111119043T>CCA445744826WDR36c.1827T>C (p.Ala609=)
c.1995T>C (p.Ala665=)
5g.111119043T>GCA445744827WDR36c.1827T>G (p.Ala609=)
c.1995T>G (p.Ala665=)
5g.111119044C>ACA360613497WDR36c.1828C>A (p.Pro610Thr)
c.1996C>A (p.Pro666Thr)
5g.111119044C=CA1572628331WDR36c.1828C= (p.Pro610=)
c.1996C= (p.Pro666=)
5g.111119044C>GCA360613498WDR36c.1828C>G (p.Pro610Ala)
c.1996C>G (p.Pro666Ala)
gnomAD v4
5g.111119044C>TCA360613499WDR36c.1828C>T (p.Pro610Ser)
c.1996C>T (p.Pro666Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.111119045delCA2674832895WDR36c.1829del (p.Pro610LeufsTer?)
c.1997del (p.Pro666LeufsTer?)
gnomAD v4
5g.111119045C>ACA360613500WDR36c.1829C>A (p.Pro610His)
c.1997C>A (p.Pro666His)
5g.111119045C>GCA360613501WDR36c.1829C>G (p.Pro610Arg)
c.1997C>G (p.Pro666Arg)
5g.111119045C>TCA360613502WDR36c.1829C>T (p.Pro610Leu)
c.1997C>T (p.Pro666Leu)
5g.111119048_111119049delCA2674832896WDR36c.1832_1833del (p.Leu611GlnfsTer?)
c.2000_2001del (p.Leu667GlnfsTer?)
gnomAD v4
5g.111119046T>ACA445744828WDR36c.1830T>A (p.Pro610=)
c.1998T>A (p.Pro666=)
5g.111119046T>CCA445744829WDR36c.1830T>C (p.Pro610=)
c.1998T>C (p.Pro666=)
5g.111119046T>GCA445744830WDR36c.1830T>G (p.Pro610=)
c.1998T>G (p.Pro666=)
5g.111119047C>ACA360613503WDR36c.1831C>A (p.Leu611Ile)
c.1999C>A (p.Leu667Ile)
5g.111119047C>GCA360613504WDR36c.1831C>G (p.Leu611Val)
c.1999C>G (p.Leu667Val)
5g.111119047C>TCA360613505WDR36c.1831C>T (p.Leu611Phe)
c.1999C>T (p.Leu667Phe)
5g.111119048T>ACA360613507WDR36c.1832T>A (p.Leu611His)
c.2000T>A (p.Leu667His)
5g.111119048T>CCA360613508WDR36c.1832T>C (p.Leu611Pro)
c.2000T>C (p.Leu667Pro)
5g.111119048T>GCA360613506WDR36c.1832T>G (p.Leu611Arg)
c.2000T>G (p.Leu667Arg)
5g.111119049C>ACA445744831WDR36c.1833C>A (p.Leu611=)
c.2001C>A (p.Leu667=)
5g.111119049C>GCA445744832WDR36c.1833C>G (p.Leu611=)
c.2001C>G (p.Leu667=)
5g.111119049C>TCA445744833WDR36c.1833C>T (p.Leu611=)
c.2001C>T (p.Leu667=)
gnomAD v4
5g.111119050A=CA1572628332WDR36c.1834A= (p.Asn612=)
c.2002A= (p.Asn668=)
5g.111119050A>CCA360613509WDR36c.1834A>C (p.Asn612His)
c.2002A>C (p.Asn668His)
dbSNP gnomAD v2 gnomAD v4
5g.111119050A>GCA360613511WDR36c.1834A>G (p.Asn612Asp)
c.2002A>G (p.Asn668Asp)
5g.111119050A>TCA360613510WDR36c.1834A>T (p.Asn612Tyr)
c.2002A>T (p.Asn668Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.111119051A=CA1572628333WDR36c.1835A= (p.Asn612=)
c.2003A= (p.Asn668=)
5g.111119051A>CCA360613512WDR36c.1835A>C (p.Asn612Thr)
c.2003A>C (p.Asn668Thr)
5g.111119051A>GCA3365886WDR36c.1835A>G (p.Asn612Ser)
c.2003A>G (p.Asn668Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119051A>TCA360613513WDR36c.1835A>T (p.Asn612Ile)
c.2003A>T (p.Asn668Ile)
COSMIC
5g.111119052T>ACA360613514WDR36c.1836T>A (p.Asn612Lys)
c.2004T>A (p.Asn668Lys)
dbSNP gnomAD v3 gnomAD v4
5g.111119052T>CCA445744834WDR36c.1836T>C (p.Asn612=)
c.2004T>C (p.Asn668=)
5g.111119052T>GCA360613515WDR36c.1836T>G (p.Asn612Lys)
c.2004T>G (p.Asn668Lys)
5g.111119052T=CA1572628334WDR36c.1836T= (p.Asn612=)
c.2004T= (p.Asn668=)
5g.111119053G>ACA360613516WDR36c.1837G>A (p.Val613Ile)
c.2005G>A (p.Val669Ile)
dbSNP
5g.111119053G>CCA360613517WDR36c.1837G>C (p.Val613Leu)
c.2005G>C (p.Val669Leu)
5g.111119053G=CA1572628335WDR36c.1837G= (p.Val613=)
c.2005G= (p.Val669=)
5g.111119053G>TCA360613518WDR36c.1837G>T (p.Val613Phe)
c.2005G>T (p.Val669Phe)
gnomAD v4
5g.111119054T>ACA360613519WDR36c.1838T>A (p.Val613Asp)
c.2006T>A (p.Val669Asp)
5g.111119054T>CCA360613520WDR36c.1838T>C (p.Val613Ala)
c.2006T>C (p.Val669Ala)
5g.111119054T>GCA360613521WDR36c.1838T>G (p.Val613Gly)
c.2006T>G (p.Val669Gly)
5g.111119055T>ACA445744835WDR36c.1839T>A (p.Val613=)
c.2007T>A (p.Val669=)
5g.111119055T>CCA445744836WDR36c.1839T>C (p.Val613=)
c.2007T>C (p.Val669=)
5g.111119055T>GCA445744837WDR36c.1839T>G (p.Val613=)
c.2007T>G (p.Val669=)
5g.111119056T>ACA360613524WDR36c.1840T>A (p.Ser614Thr)
c.2008T>A (p.Ser670Thr)
5g.111119056T>CCA360613523WDR36c.1840T>C (p.Ser614Pro)
c.2008T>C (p.Ser670Pro)
dbSNP gnomAD v2 gnomAD v4
5g.111119056T>GCA360613522WDR36c.1840T>G (p.Ser614Ala)
c.2008T>G (p.Ser670Ala)
gnomAD v4
5g.111119056T=CA1572628336WDR36c.1840T= (p.Ser614=)
c.2008T= (p.Ser670=)
5g.111119057C>ACA360613525WDR36c.1841C>A (p.Ser614Tyr)
c.2009C>A (p.Ser670Tyr)
5g.111119057C=CA1572628337WDR36c.1841C= (p.Ser614=)
c.2009C= (p.Ser670=)
5g.111119057C>GCA360613526WDR36c.1841C>G (p.Ser614Cys)
c.2009C>G (p.Ser670Cys)
dbSNP gnomAD v3 gnomAD v4
5g.111119057C>TCA3365887WDR36c.1841C>T (p.Ser614Phe)
c.2009C>T (p.Ser670Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119058T>ACA445744838WDR36c.1842T>A (p.Ser614=)
c.2010T>A (p.Ser670=)
5g.111119058T>CCA445744839WDR36c.1842T>C (p.Ser614=)
c.2010T>C (p.Ser670=)
5g.111119058T>GCA445744840WDR36c.1842T>G (p.Ser614=)
c.2010T>G (p.Ser670=)
5g.111119059_111119060delCA2674832897WDR36c.1843_1844del (p.Met615ValfsTer?)
c.2011_2012del (p.Met671ValfsTer?)
ClinVar gnomAD v4
5g.111119059A=CA1572628338WDR36c.1843A= (p.Met615=)
c.2011A= (p.Met671=)
5g.111119059A>CCA360613527WDR36c.1843A>C (p.Met615Leu)
c.2011A>C (p.Met671Leu)
5g.111119059A>GCA3365888WDR36c.1843A>G (p.Met615Val)
c.2011A>G (p.Met671Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119059A>TCA360613528WDR36c.1843A>T (p.Met615Leu)
c.2011A>T (p.Met671Leu)
5g.111119060T>ACA360613529WDR36c.1844T>A (p.Met615Lys)
c.2012T>A (p.Met671Lys)
5g.111119060T>CCA360613530WDR36c.1844T>C (p.Met615Thr)
c.2012T>C (p.Met671Thr)
5g.111119060T>GCA360613531WDR36c.1844T>G (p.Met615Arg)
c.2012T>G (p.Met671Arg)
5g.111119061G>ACA360613532WDR36c.1845G>A (p.Met615Ile)
c.2013G>A (p.Met671Ile)
dbSNP gnomAD v3 gnomAD v4
5g.111119061G>CCA360613533WDR36c.1845G>C (p.Met615Ile)
c.2013G>C (p.Met671Ile)
5g.111119061G=CA1572628339WDR36c.1845G= (p.Met615=)
c.2013G= (p.Met671=)
5g.111119061G>TCA360613534WDR36c.1845G>T (p.Met615Ile)
c.2013G>T (p.Met671Ile)
5g.111119062T>ACA360613537WDR36c.1846T>A (p.Ser616Thr)
c.2014T>A (p.Ser672Thr)
dbSNP gnomAD v2 gnomAD v4
5g.111119062T>CCA360613536WDR36c.1846T>C (p.Ser616Pro)
c.2014T>C (p.Ser672Pro)
5g.111119062T>GCA360613535WDR36c.1846T>G (p.Ser616Ala)
c.2014T>G (p.Ser672Ala)
5g.111119062T=CA1572628340WDR36c.1846T= (p.Ser616=)
c.2014T= (p.Ser672=)
5g.111119063C>ACA360613538WDR36c.1847C>A (p.Ser616Tyr)
c.2015C>A (p.Ser672Tyr)
5g.111119063C>GCA360613539WDR36c.1847C>G (p.Ser616Cys)
c.2015C>G (p.Ser672Cys)
5g.111119063C>TCA360613540WDR36c.1847C>T (p.Ser616Phe)
c.2015C>T (p.Ser672Phe)
5g.111119064T>ACA445744841WDR36c.1848T>A (p.Ser616=)
c.2016T>A (p.Ser672=)
5g.111119064T>CCA445744842WDR36c.1848T>C (p.Ser616=)
c.2016T>C (p.Ser672=)
5g.111119064T>GCA445744843WDR36c.1848T>G (p.Ser616=)
c.2016T>G (p.Ser672=)
gnomAD v4
5g.111119065C>ACA360613541WDR36c.1849C>A (p.Pro617Thr)
c.2017C>A (p.Pro673Thr)
5g.111119065C>GCA360613542WDR36c.1849C>G (p.Pro617Ala)
c.2017C>G (p.Pro673Ala)
5g.111119065C>TCA360613543WDR36c.1849C>T (p.Pro617Ser)
c.2017C>T (p.Pro673Ser)
COSMIC
5g.111119065_111119079delinsCCTACTGGAGACTTTCA1572628341WDR36c.1849_1863delinsCCTACTGGAGACTTT (p.Pro617=)
c.2017_2031delinsCCTACTGGAGACTTT (p.Pro673=)
5g.111119066C>ACA360613544WDR36c.1850C>A (p.Pro617His)
c.2018C>A (p.Pro673His)
5g.111119066C>GCA360613545WDR36c.1850C>G (p.Pro617Arg)
c.2018C>G (p.Pro673Arg)
5g.111119066C>TCA360613546WDR36c.1850C>T (p.Pro617Leu)
c.2018C>T (p.Pro673Leu)
5g.111119068_111119081delCA3365889WDR36c.1852_1865del (p.Thr618GlyfsTer?)
c.2020_2033del (p.Thr674GlyfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119067T>ACA445744845WDR36c.1851T>A (p.Pro617=)
c.2019T>A (p.Pro673=)
5g.111119067T>CCA445744844WDR36c.1851T>C (p.Pro617=)
c.2019T>C (p.Pro673=)
5g.111119067T>GCA445744846WDR36c.1851T>G (p.Pro617=)
c.2019T>G (p.Pro673=)
5g.111119068A=CA1572628342WDR36c.1852A= (p.Thr618=)
c.2020A= (p.Thr674=)
5g.111119068A>CCA360613547WDR36c.1852A>C (p.Thr618Pro)
c.2020A>C (p.Thr674Pro)
5g.111119068A>GCA3365890WDR36c.1852A>G (p.Thr618Ala)
c.2020A>G (p.Thr674Ala)
dbSNP ExAC gnomAD v2
5g.111119068A>TCA360613548WDR36c.1852A>T (p.Thr618Ser)
c.2020A>T (p.Thr674Ser)
5g.111119069C>ACA360613551WDR36c.1853C>A (p.Thr618Asn)
c.2021C>A (p.Thr674Asn)
5g.111119069C>GCA360613549WDR36c.1853C>G (p.Thr618Ser)
c.2021C>G (p.Thr674Ser)
5g.111119069C>TCA360613550WDR36c.1853C>T (p.Thr618Ile)
c.2021C>T (p.Thr674Ile)
gnomAD v4
5g.111119070T>ACA445744849WDR36c.1854T>A (p.Thr618=)
c.2022T>A (p.Thr674=)
5g.111119070T>CCA445744848WDR36c.1854T>C (p.Thr618=)
c.2022T>C (p.Thr674=)
5g.111119070T>GCA445744847WDR36c.1854T>G (p.Thr618=)
c.2022T>G (p.Thr674=)
5g.111119071G>ACA360613552WDR36c.1855G>A (p.Gly619Arg)
c.2023G>A (p.Gly675Arg)
gnomAD v4
5g.111119071G>CCA360613553WDR36c.1855G>C (p.Gly619Arg)
c.2023G>C (p.Gly675Arg)
5g.111119071G>TCA360613554WDR36c.1855G>T (p.Gly619Ter)
c.2023G>T (p.Gly675Ter)
5g.111119072G>ACA360613555WDR36c.1856G>A (p.Gly619Glu)
c.2024G>A (p.Gly675Glu)
gnomAD v4
5g.111119072G>CCA360613556WDR36c.1856G>C (p.Gly619Ala)
c.2024G>C (p.Gly675Ala)
5g.111119072G>TCA360613557WDR36c.1856G>T (p.Gly619Val)
c.2024G>T (p.Gly675Val)
5g.111119073A>CCA445744850WDR36c.1857A>C (p.Gly619=)
c.2025A>C (p.Gly675=)
5g.111119073A>GCA445744852WDR36c.1857A>G (p.Gly619=)
c.2025A>G (p.Gly675=)
5g.111119073A>TCA445744851WDR36c.1857A>T (p.Gly619=)
c.2025A>T (p.Gly675=)
5g.111119074G>ACA360613558WDR36c.1858G>A (p.Asp620Asn)
c.2026G>A (p.Asp676Asn)
5g.111119074G>CCA360613559WDR36c.1858G>C (p.Asp620His)
c.2026G>C (p.Asp676His)
5g.111119074G=CA1572628343WDR36c.1858G= (p.Asp620=)
c.2026G= (p.Asp676=)
5g.111119074G>TCA360613560WDR36c.1858G>T (p.Asp620Tyr)
c.2026G>T (p.Asp676Tyr)
dbSNP
5g.111119075A>CCA360613561WDR36c.1859A>C (p.Asp620Ala)
c.2027A>C (p.Asp676Ala)
5g.111119075A>GCA360613562WDR36c.1859A>G (p.Asp620Gly)
c.2027A>G (p.Asp676Gly)
5g.111119075A>TCA360613563WDR36c.1859A>T (p.Asp620Val)
c.2027A>T (p.Asp676Val)
5g.111119076C>ACA360613564WDR36c.1860C>A (p.Asp620Glu)
c.2028C>A (p.Asp676Glu)
gnomAD v4
5g.111119076C=CA1572628344WDR36c.1860C= (p.Asp620=)
c.2028C= (p.Asp676=)
5g.111119076C>GCA360613565WDR36c.1860C>G (p.Asp620Glu)
c.2028C>G (p.Asp676Glu)
dbSNP gnomAD v2 gnomAD v4
5g.111119076C>TCA445744853WDR36c.1860C>T (p.Asp620=)
c.2028C>T (p.Asp676=)
5g.111119077T>ACA360613566WDR36c.1861T>A (p.Phe621Ile)
c.2029T>A (p.Phe677Ile)
5g.111119077T>CCA360613568WDR36c.1861T>C (p.Phe621Leu)
c.2029T>C (p.Phe677Leu)
5g.111119077T>GCA360613567WDR36c.1861T>G (p.Phe621Val)
c.2029T>G (p.Phe677Val)
5g.111119078T>ACA360613569WDR36c.1862T>A (p.Phe621Tyr)
c.2030T>A (p.Phe677Tyr)
5g.111119078T>CCA360613571WDR36c.1862T>C (p.Phe621Ser)
c.2030T>C (p.Phe677Ser)
5g.111119078T>GCA360613570WDR36c.1862T>G (p.Phe621Cys)
c.2030T>G (p.Phe677Cys)
5g.111119079T>ACA360613572WDR36c.1863T>A (p.Phe621Leu)
c.2031T>A (p.Phe677Leu)
5g.111119079T>CCA3365891WDR36c.1863T>C (p.Phe621=)
c.2031T>C (p.Phe677=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119079T>GCA360613573WDR36c.1863T>G (p.Phe621Leu)
c.2031T>G (p.Phe677Leu)
5g.111119079T=CA1572628345WDR36c.1863T= (p.Phe621=)
c.2031T= (p.Phe677=)
5g.111119080C>ACA360613574WDR36c.1864C>A (p.Leu622Met)
c.2032C>A (p.Leu678Met)
5g.111119080C>GCA360613575WDR36c.1864C>G (p.Leu622Val)
c.2032C>G (p.Leu678Val)
5g.111119080C>TCA445744854WDR36c.1864C>T (p.Leu622=)
c.2032C>T (p.Leu678=)
5g.111119081T>ACA360613576WDR36c.1865T>A (p.Leu622Gln)
c.2033T>A (p.Leu678Gln)
5g.111119081T>CCA360613577WDR36c.1865T>C (p.Leu622Pro)
c.2033T>C (p.Leu678Pro)
5g.111119081T>GCA360613578WDR36c.1865T>G (p.Leu622Arg)
c.2033T>G (p.Leu678Arg)
5g.111119082G>ACA445744855WDR36c.1866G>A (p.Leu622=)
c.2034G>A (p.Leu678=)
gnomAD v4
5g.111119082G>CCA445744856WDR36c.1866G>C (p.Leu622=)
c.2034G>C (p.Leu678=)
5g.111119082G>TCA445744857WDR36c.1866G>T (p.Leu622=)
c.2034G>T (p.Leu678=)
5g.111119083G>ACA360613579WDR36c.1867G>A (p.Ala623Thr)
c.2035G>A (p.Ala679Thr)
dbSNP
5g.111119083G>CCA360613580WDR36c.1867G>C (p.Ala623Pro)
c.2035G>C (p.Ala679Pro)
5g.111119083G=CA1572628346WDR36c.1867G= (p.Ala623=)
c.2035G= (p.Ala679=)
5g.111119083G>TCA360613581WDR36c.1867G>T (p.Ala623Ser)
c.2035G>T (p.Ala679Ser)
5g.111119084C>ACA360613582WDR36c.1868C>A (p.Ala623Glu)
c.2036C>A (p.Ala679Glu)
5g.111119084C=CA1572628347WDR36c.1868C= (p.Ala623=)
c.2036C= (p.Ala679=)
5g.111119084C>GCA360613583WDR36c.1868C>G (p.Ala623Gly)
c.2036C>G (p.Ala679Gly)
5g.111119084C>TCA360613584WDR36c.1868C>T (p.Ala623Val)
c.2036C>T (p.Ala679Val)
dbSNP gnomAD v2 gnomAD v4
5g.111119085A>CCA445744858WDR36c.1869A>C (p.Ala623=)
c.2037A>C (p.Ala679=)
5g.111119085A>GCA445744859WDR36c.1869A>G (p.Ala623=)
c.2037A>G (p.Ala679=)
gnomAD v4
5g.111119085A>TCA445744860WDR36c.1869A>T (p.Ala623=)
c.2037A>T (p.Ala679=)
5g.111119086A=CA1572628348WDR36c.1870A= (p.Thr624=)
c.2038A= (p.Thr680=)
5g.111119086A>CCA360613586WDR36c.1870A>C (p.Thr624Pro)
c.2038A>C (p.Thr680Pro)
5g.111119086A>GCA3365892WDR36c.1870A>G (p.Thr624Ala)
c.2038A>G (p.Thr680Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119086A>TCA360613585WDR36c.1870A>T (p.Thr624Ser)
c.2038A>T (p.Thr680Ser)
gnomAD v4
5g.111119087C>ACA360613587WDR36c.1871C>A (p.Thr624Asn)
c.2039C>A (p.Thr680Asn)
5g.111119087C>GCA360613588WDR36c.1871C>G (p.Thr624Ser)
c.2039C>G (p.Thr680Ser)
5g.111119087C>TCA360613589WDR36c.1871C>T (p.Thr624Ile)
c.2039C>T (p.Thr680Ile)
dbSNP gnomAD v4
5g.111119088T>ACA445744861WDR36c.1872T>A (p.Thr624=)
c.2040T>A (p.Thr680=)
5g.111119088T>CCA445744862WDR36c.1872T>C (p.Thr624=)
c.2040T>C (p.Thr680=)
5g.111119088T>GCA3365893WDR36c.1872T>G (p.Thr624=)
c.2040T>G (p.Thr680=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119088T=CA1572628349WDR36c.1872T= (p.Thr624=)
c.2040T= (p.Thr680=)
5g.111119089T>ACA360613590WDR36c.1873T>A (p.Ser625Thr)
c.2041T>A (p.Ser681Thr)
5g.111119089T>CCA360613591WDR36c.1873T>C (p.Ser625Pro)
c.2041T>C (p.Ser681Pro)
5g.111119089T>GCA360613592WDR36c.1873T>G (p.Ser625Ala)
c.2041T>G (p.Ser681Ala)
5g.111119090C>ACA3365894WDR36c.1874C>A (p.Ser625Tyr)
c.2042C>A (p.Ser681Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119090C=CA1572628350WDR36c.1874C= (p.Ser625=)
c.2042C= (p.Ser681=)
5g.111119090C>GCA360613593WDR36c.1874C>G (p.Ser625Cys)
c.2042C>G (p.Ser681Cys)
gnomAD v4
5g.111119090C>TCA360613594WDR36c.1874C>T (p.Ser625Phe)
c.2042C>T (p.Ser681Phe)
ClinVar
5g.111119091C>ACA445744863WDR36c.1875C>A (p.Ser625=)
c.2043C>A (p.Ser681=)
5g.111119091C>GCA445744864WDR36c.1875C>G (p.Ser625=)
c.2043C>G (p.Ser681=)
5g.111119091C>TCA445744865WDR36c.1875C>T (p.Ser625=)
c.2043C>T (p.Ser681=)
5g.111119092C>ACA360613596WDR36c.1876C>A (p.His626Asn)
c.2044C>A (p.His682Asn)
5g.111119092C>GCA360613597WDR36c.1876C>G (p.His626Asp)
c.2044C>G (p.His682Asp)
5g.111119092C>TCA360613595WDR36c.1876C>T (p.His626Tyr)
c.2044C>T (p.His682Tyr)
5g.111119093A=CA1572628351WDR36c.1877A= (p.His626=)
c.2045A= (p.His682=)
5g.111119093A>CCA360613598WDR36c.1877A>C (p.His626Pro)
c.2045A>C (p.His682Pro)
5g.111119093A>GCA360613599WDR36c.1877A>G (p.His626Arg)
c.2045A>G (p.His682Arg)
5g.111119093A>TCA360613600WDR36c.1877A>T (p.His626Leu)
c.2045A>T (p.His682Leu)
5g.111119094T>ACA360613601WDR36c.1878T>A (p.His626Gln)
c.2046T>A (p.His682Gln)
5g.111119094T>CCA3365896WDR36c.1878T>C (p.His626=)
c.2046T>C (p.His682=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119094T>GCA360613602WDR36c.1878T>G (p.His626Gln)
c.2046T>G (p.His682Gln)
5g.111119094T=CA1572628352WDR36c.1878T= (p.His626=)
c.2046T= (p.His682=)
5g.111119094dupCA3365895WDR36c.1878dup (p.Val627CysfsTer?)
c.2046dup (p.Val683CysfsTer?)
dbSNP ExAC gnomAD v2
5g.111119095G>ACA360613603WDR36c.1879G>A (p.Val627Met)
c.2047G>A (p.Val683Met)
5g.111119095G>CCA360613604WDR36c.1879G>C (p.Val627Leu)
c.2047G>C (p.Val683Leu)
5g.111119095G>TCA360613605WDR36c.1879G>T (p.Val627Leu)
c.2047G>T (p.Val683Leu)
5g.111119096T>ACA360613606WDR36c.1880T>A (p.Val627Glu)
c.2048T>A (p.Val683Glu)
5g.111119096T>CCA360613607WDR36c.1880T>C (p.Val627Ala)
c.2048T>C (p.Val683Ala)
5g.111119096T>GCA360613608WDR36c.1880T>G (p.Val627Gly)
c.2048T>G (p.Val683Gly)
5g.111119097G>ACA124932606WDR36c.1881G>A (p.Val627=)
c.2049G>A (p.Val683=)
dbSNP gnomAD v4
5g.111119097G>CCA445744866WDR36c.1881G>C (p.Val627=)
c.2049G>C (p.Val683=)
5g.111119097G=CA1572628353WDR36c.1881G= (p.Val627=)
c.2049G= (p.Val683=)
5g.111119097G>TCA445744867WDR36c.1881G>T (p.Val627=)
c.2049G>T (p.Val683=)
5g.111119098G>ACA360613609WDR36c.1882G>A (p.Asp628Asn)
c.2050G>A (p.Asp684Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.111119098G>CCA360613610WDR36c.1882G>C (p.Asp628His)
c.2050G>C (p.Asp684His)
5g.111119098G=CA1572628354WDR36c.1882G= (p.Asp628=)
c.2050G= (p.Asp684=)
5g.111119098G>TCA360613611WDR36c.1882G>T (p.Asp628Tyr)
c.2050G>T (p.Asp684Tyr)
gnomAD v4
5g.111119099A=CA1572628355WDR36c.1883A= (p.Asp628=)
c.2051A= (p.Asp684=)
5g.111119099A>CCA360613612WDR36c.1883A>C (p.Asp628Ala)
c.2051A>C (p.Asp684Ala)
5g.111119099A>GCA360613613WDR36c.1883A>G (p.Asp628Gly)
c.2051A>G (p.Asp684Gly)
dbSNP
5g.111119099A>TCA360613614WDR36c.1883A>T (p.Asp628Val)
c.2051A>T (p.Asp684Val)
5g.111119100C>ACA360613615WDR36c.1884C>A (p.Asp628Glu)
c.2052C>A (p.Asp684Glu)
5g.111119100C>GCA360613616WDR36c.1884C>G (p.Asp628Glu)
c.2052C>G (p.Asp684Glu)
5g.111119100C>TCA445744868WDR36c.1884C>T (p.Asp628=)
c.2052C>T (p.Asp684=)
5g.111119100_111119101delCA2578377229WDR36c.1884_1885del (p.Asp628GlufsTer?)
c.2052_2053del (p.Asp684GlufsTer?)
5g.111119101C>ACA360613617WDR36c.1885C>A (p.His629Asn)
c.2053C>A (p.His685Asn)
5g.111119101C>GCA360613618WDR36c.1885C>G (p.His629Asp)
c.2053C>G (p.His685Asp)
5g.111119101C>TCA360613619WDR36c.1885C>T (p.His629Tyr)
c.2053C>T (p.His685Tyr)
5g.111119102A=CA1572628356WDR36c.1886A= (p.His629=)
c.2054A= (p.His685=)
5g.111119102A>CCA360613620WDR36c.1886A>C (p.His629Pro)
c.2054A>C (p.His685Pro)
5g.111119102A>GCA360613621WDR36c.1886A>G (p.His629Arg)
c.2054A>G (p.His685Arg)
dbSNP gnomAD v3 gnomAD v4
5g.111119102A>TCA360613622WDR36c.1886A>T (p.His629Leu)
c.2054A>T (p.His685Leu)
5g.111119103C>ACA360613624WDR36c.1887C>A (p.His629Gln)
c.2055C>A (p.His685Gln)
5g.111119103C>GCA360613623WDR36c.1887C>G (p.His629Gln)
c.2055C>G (p.His685Gln)
5g.111119103C>TCA445744869WDR36c.1887C>T (p.His629=)
c.2055C>T (p.His685=)
gnomAD v4
5g.111119104C>ACA360613625WDR36c.1888C>A (p.Leu630Ile)
c.2056C>A (p.Leu686Ile)
5g.111119104C=CA1572628357WDR36c.1888C= (p.Leu630=)
c.2056C= (p.Leu686=)
5g.111119104C>GCA360613627WDR36c.1888C>G (p.Leu630Val)
c.2056C>G (p.Leu686Val)
5g.111119104C>TCA360613626WDR36c.1888C>T (p.Leu630Phe)
c.2056C>T (p.Leu686Phe)
dbSNP gnomAD v3 gnomAD v4
5g.111119105T>ACA360613628WDR36c.1889T>A (p.Leu630His)
c.2057T>A (p.Leu686His)
5g.111119105T>CCA360613629WDR36c.1889T>C (p.Leu630Pro)
c.2057T>C (p.Leu686Pro)
5g.111119105T>GCA360613630WDR36c.1889T>G (p.Leu630Arg)
c.2057T>G (p.Leu686Arg)
5g.111119106T>ACA445744870WDR36c.1890T>A (p.Leu630=)
c.2058T>A (p.Leu686=)
5g.111119106T>CCA445744871WDR36c.1890T>C (p.Leu630=)
c.2058T>C (p.Leu686=)
gnomAD v4
5g.111119106T>GCA445744872WDR36c.1890T>G (p.Leu630=)
c.2058T>G (p.Leu686=)
5g.111119107G>ACA360613631WDR36c.1891G>A (p.Gly631Arg)
c.2059G>A (p.Gly687Arg)
5g.111119107G>CCA360613632WDR36c.1891G>C (p.Gly631Arg)
c.2059G>C (p.Gly687Arg)
5g.111119107G>TCA360613633WDR36c.1891G>T (p.Gly631Ter)
c.2059G>T (p.Gly687Ter)
5g.111119108G>ACA360613634WDR36c.1892G>A (p.Gly631Glu)
c.2060G>A (p.Gly687Glu)
gnomAD v4
5g.111119108G>CCA360613635WDR36c.1892G>C (p.Gly631Ala)
c.2060G>C (p.Gly687Ala)
5g.111119108G>TCA360613636WDR36c.1892G>T (p.Gly631Val)
c.2060G>T (p.Gly687Val)
5g.111119109A>CCA445744874WDR36c.1893A>C (p.Gly631=)
c.2061A>C (p.Gly687=)
5g.111119109A>GCA445744873WDR36c.1893A>G (p.Gly631=)
c.2061A>G (p.Gly687=)
5g.111119109A>TCA445744875WDR36c.1893A>T (p.Gly631=)
c.2061A>T (p.Gly687=)
5g.111119110A>CCA360613637WDR36c.1894A>C (p.Ile632Leu)
c.2062A>C (p.Ile688Leu)
5g.111119110A>GCA360613638WDR36c.1894A>G (p.Ile632Val)
c.2062A>G (p.Ile688Val)
5g.111119110A>TCA360613639WDR36c.1894A>T (p.Ile632Phe)
c.2062A>T (p.Ile688Phe)
5g.111119111T>ACA360613642WDR36c.1895T>A (p.Ile632Asn)
c.2063T>A (p.Ile688Asn)
5g.111119111T>CCA360613640WDR36c.1895T>C (p.Ile632Thr)
c.2063T>C (p.Ile688Thr)
5g.111119111T>GCA360613641WDR36c.1895T>G (p.Ile632Ser)
c.2063T>G (p.Ile688Ser)
5g.111119112T>ACA445744876WDR36c.1896T>A (p.Ile632=)
c.2064T>A (p.Ile688=)
5g.111119112T>CCA445744877WDR36c.1896T>C (p.Ile632=)
c.2064T>C (p.Ile688=)
5g.111119112T>GCA360613643WDR36c.1896T>G (p.Ile632Met)
c.2064T>G (p.Ile688Met)
5g.111119113T>ACA360613644WDR36c.1897T>A (p.Tyr633Asn)
c.2065T>A (p.Tyr689Asn)
5g.111119113T>CCA360613645WDR36c.1897T>C (p.Tyr633His)
c.2065T>C (p.Tyr689His)
5g.111119113T>GCA360613646WDR36c.1897T>G (p.Tyr633Asp)
c.2065T>G (p.Tyr689Asp)
5g.111119114A>CCA360613647WDR36c.1898A>C (p.Tyr633Ser)
c.2066A>C (p.Tyr689Ser)
5g.111119114A>GCA360613648WDR36c.1898A>G (p.Tyr633Cys)
c.2066A>G (p.Tyr689Cys)
5g.111119114A>TCA360613649WDR36c.1898A>T (p.Tyr633Phe)
c.2066A>T (p.Tyr689Phe)
5g.111119115T>ACA360613650WDR36c.1899T>A (p.Tyr633Ter)
c.2067T>A (p.Tyr689Ter)
5g.111119115T>CCA445744878WDR36c.1899T>C (p.Tyr633=)
c.2067T>C (p.Tyr689=)
5g.111119115T>GCA360613651WDR36c.1899T>G (p.Tyr633Ter)
c.2067T>G (p.Tyr689Ter)
5g.111119116C>ACA3365897WDR36c.1900C>A (p.Leu634Ile)
c.2068C>A (p.Leu690Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119116C=CA1572628358WDR36c.1900C= (p.Leu634=)
c.2068C= (p.Leu690=)
5g.111119116C>GCA360613652WDR36c.1900C>G (p.Leu634Val)
c.2068C>G (p.Leu690Val)
COSMIC
5g.111119116C>TCA445744879WDR36c.1900C>T (p.Leu634=)
c.2068C>T (p.Leu690=)
5g.111119117T>ACA360613655WDR36c.1901T>A (p.Leu634Gln)
c.2069T>A (p.Leu690Gln)
5g.111119117T>CCA360613654WDR36c.1901T>C (p.Leu634Pro)
c.2069T>C (p.Leu690Pro)
5g.111119117T>GCA360613653WDR36c.1901T>G (p.Leu634Arg)
c.2069T>G (p.Leu690Arg)
5g.111119118A=CA1572628359WDR36c.1902A= (p.Leu634=)
c.2070A= (p.Leu690=)
5g.111119118A>CCA445744880WDR36c.1902A>C (p.Leu634=)
c.2070A>C (p.Leu690=)
5g.111119118A>GCA3365898WDR36c.1902A>G (p.Leu634=)
c.2070A>G (p.Leu690=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119118A>TCA445744881WDR36c.1902A>T (p.Leu634=)
c.2070A>T (p.Leu690=)
5g.111119119T>ACA360613656WDR36c.1903T>A (p.Trp635Arg)
c.2071T>A (p.Trp691Arg)
5g.111119119T>CCA360613657WDR36c.1903T>C (p.Trp635Arg)
c.2071T>C (p.Trp691Arg)
5g.111119119T>GCA360613658WDR36c.1903T>G (p.Trp635Gly)
c.2071T>G (p.Trp691Gly)
5g.111119120G>ACA360613659WDR36c.1904G>A (p.Trp635Ter)
c.2072G>A (p.Trp691Ter)
5g.111119120G>CCA360613660WDR36c.1904G>C (p.Trp635Ser)
c.2072G>C (p.Trp691Ser)
5g.111119120G>TCA360613661WDR36c.1904G>T (p.Trp635Leu)
c.2072G>T (p.Trp691Leu)
gnomAD v4
5g.111119121G>ACA360613662WDR36c.1904+1G>A (n.1904+1G>A)
c.2072+1G>A (n.2072+1G>A)
5g.111119121G>CCA360613663WDR36c.1904+1G>C (n.1904+1G>C)
c.2072+1G>C (n.2072+1G>C)
5g.111119121G>TCA360613664WDR36c.1904+1G>T (n.1904+1G>T)
c.2072+1G>T (n.2072+1G>T)
5g.111119122T>ACA360613665WDR36c.1904+2T>A (n.1904+2T>A)
c.2072+2T>A (n.2072+2T>A)
5g.111119122T>CCA360613666WDR36c.1904+2T>C (n.1904+2T>C)
c.2072+2T>C (n.2072+2T>C)
5g.111119122T>GCA360613667WDR36c.1904+2T>G (n.1904+2T>G)
c.2072+2T>G (n.2072+2T>G)
5g.111119123A>GCA2578377232WDR36c.1904+3A>G (n.1904+3A>G)
c.2072+3A>G (n.2072+3A>G)
gnomAD v4

Number of alleles fetched