Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.43352673_43352677delinsCCTGTCA1165581395MPLc.1809_1813delinsCCTGT (p.Pro603=)
c.1788_1792delinsCCTGT (p.Pro596=)
c.467_471delinsCCTGT
c.1980_1984delinsCCTGT (p.Pro660=)
1g.43352674_43352675delCA2574340894MPLc.1810_1811del (p.Leu604ValfsTer8)
c.1789_1790del (p.Leu597ValfsTer8)
c.468_469del
c.1981_1982del (p.Leu661ValfsTer8)
 ClinVar gnomAD v4
1g.43352678_43352681delCA522806116MPLc.1814_1817del (p.Ser605CysfsTer24)
c.1793_1796del (p.Ser598CysfsTer24)
c.472_475del
c.1985_1988del (p.Ser662CysfsTer24)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43352675T>ACA339994511MPLc.1811T>A (p.Leu604Gln)
c.1790T>A (p.Leu597Gln)
c.469T>A
c.1982T>A (p.Leu661Gln)
1g.43352675T>CCA339994512MPLc.1811T>C (p.Leu604Pro)
c.1790T>C (p.Leu597Pro)
c.469T>C
c.1982T>C (p.Leu661Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.43352675T>GCA339994515MPLc.1811T>G (p.Leu604Arg)
c.1790T>G (p.Leu597Arg)
c.469T>G
c.1982T>G (p.Leu661Arg)
1g.43352675T=CA1165581396MPLc.1811T= (p.Leu604=)
c.1790T= (p.Leu597=)
c.469T=
c.1982T= (p.Leu661=)
1g.43352676G>ACA417428393MPLc.1812G>A (p.Leu604=)
c.1791G>A (p.Leu597=)
c.470G>A
c.1983G>A (p.Leu661=)
 dbSNP
1g.43352676G>CCA417428395MPLc.1812G>C (p.Leu604=)
c.1791G>C (p.Leu597=)
c.470G>C
c.1983G>C (p.Leu661=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43352676G=CA1165581397MPLc.1812G= (p.Leu604=)
c.1791G= (p.Leu597=)
c.470G=
c.1983G= (p.Leu661=)
1g.43352676G>TCA417428396MPLc.1812G>T (p.Leu604=)
c.1791G>T (p.Leu597=)
c.470G>T
c.1983G>T (p.Leu661=)
1g.43352677T>ACA339994520MPLc.1813T>A (p.Ser605Thr)
c.1792T>A (p.Ser598Thr)
c.471T>A
c.1984T>A (p.Ser662Thr)
1g.43352677T>CCA339994522MPLc.1813T>C (p.Ser605Pro)
c.1792T>C (p.Ser598Pro)
c.471T>C
c.1984T>C (p.Ser662Pro)
1g.43352677T>GCA339994525MPLc.1813T>G (p.Ser605Ala)
c.1792T>G (p.Ser598Ala)
c.471T>G
c.1984T>G (p.Ser662Ala)
1g.43352678C>ACA339994528MPLc.1814C>A (p.Ser605Tyr)
c.1793C>A (p.Ser598Tyr)
c.472C>A
c.1985C>A (p.Ser662Tyr)
 dbSNP
1g.43352678C>GCA339994530MPLc.1814C>G (p.Ser605Cys)
c.1793C>G (p.Ser598Cys)
c.472C>G
c.1985C>G (p.Ser662Cys)
1g.43352678C>TCA339994542MPLc.1814C>T (p.Ser605Phe)
c.1793C>T (p.Ser598Phe)
c.472C>T
c.1985C>T (p.Ser662Phe)
1g.43352679T>ACA417428400MPLc.1815T>A (p.Ser605=)
c.1794T>A (p.Ser598=)
c.473T>A
c.1986T>A (p.Ser662=)
1g.43352679T>CCA807030MPLc.1815T>C (p.Ser605=)
c.1794T>C (p.Ser598=)
c.473T>C
c.1986T>C (p.Ser662=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352679T>GCA417428401MPLc.1815T>G (p.Ser605=)
c.1794T>G (p.Ser598=)
c.473T>G
c.1986T>G (p.Ser662=)
1g.43352679T=CA1165581398MPLc.1815T= (p.Ser605=)
c.1794T= (p.Ser598=)
c.473T=
c.1986T= (p.Ser662=)
1g.43352680G>ACA21616489MPLc.1816G>A (p.Val606Met)
c.1795G>A (p.Val599Met)
c.474G>A
c.1987G>A (p.Val663Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43352680G>CCA339994552MPLc.1816G>C (p.Val606Leu)
c.1795G>C (p.Val599Leu)
c.474G>C
c.1987G>C (p.Val663Leu)
1g.43352680G=CA1165581399MPLc.1816G= (p.Val606=)
c.1795G= (p.Val599=)
c.474G=
c.1987G= (p.Val663=)
1g.43352680G>TCA339994556MPLc.1816G>T (p.Val606Leu)
c.1795G>T (p.Val599Leu)
c.474G>T
c.1987G>T (p.Val663Leu)
1g.43352681T>ACA339994563MPLc.1817T>A (p.Val606Glu)
c.1796T>A (p.Val599Glu)
c.475T>A
c.1988T>A (p.Val663Glu)
1g.43352681T>CCA339994572MPLc.1817T>C (p.Val606Ala)
c.1796T>C (p.Val599Ala)
c.475T>C
c.1988T>C (p.Val663Ala)
1g.43352681T>GCA339994569MPLc.1817T>G (p.Val606Gly)
c.1796T>G (p.Val599Gly)
c.475T>G
c.1988T>G (p.Val663Gly)
1g.43352682G>ACA417428403MPLc.1818G>A (p.Val606=)
c.1797G>A (p.Val599=)
c.476G>A
c.1989G>A (p.Val663=)
 ClinVar dbSNP
1g.43352682G>CCA417428404MPLc.1818G>C (p.Val606=)
c.1797G>C (p.Val599=)
c.476G>C
c.1989G>C (p.Val663=)
 gnomAD v4
1g.43352682G>TCA417428405MPLc.1818G>T (p.Val606=)
c.1797G>T (p.Val599=)
c.476G>T
c.1989G>T (p.Val663=)
 gnomAD v4
1g.43352683T>ACA339994576MPLc.1819T>A (p.Cys607Ser)
c.1798T>A (p.Cys600Ser)
c.477T>A
c.1990T>A (p.Cys664Ser)
1g.43352683T>CCA339994589MPLc.1819T>C (p.Cys607Arg)
c.1798T>C (p.Cys600Arg)
c.477T>C
c.1990T>C (p.Cys664Arg)
1g.43352683T>GCA339994587MPLc.1819T>G (p.Cys607Gly)
c.1798T>G (p.Cys600Gly)
c.477T>G
c.1990T>G (p.Cys664Gly)
 gnomAD v4
1g.43352684G>ACA339994593MPLc.1820G>A (p.Cys607Tyr)
c.1799G>A (p.Cys600Tyr)
c.478G>A
c.1991G>A (p.Cys664Tyr)
 dbSNP gnomAD v4
1g.43352684G>CCA339994597MPLc.1820G>C (p.Cys607Ser)
c.1799G>C (p.Cys600Ser)
c.478G>C
c.1991G>C (p.Cys664Ser)
1g.43352684G>TCA339994601MPLc.1820G>T (p.Cys607Phe)
c.1799G>T (p.Cys600Phe)
c.478G>T
c.1991G>T (p.Cys664Phe)
1g.43352685C>ACA339994604MPLc.1821C>A (p.Cys607Ter)
c.1800C>A (p.Cys600Ter)
c.479C>A
c.1992C>A (p.Cys664Ter)
 dbSNP
1g.43352685C>GCA339994607MPLc.1821C>G (p.Cys607Trp)
c.1800C>G (p.Cys600Trp)
c.479C>G
c.1992C>G (p.Cys664Trp)
1g.43352685C>TCA417428406MPLc.1821C>T (p.Cys607=)
c.1800C>T (p.Cys600=)
c.479C>T
c.1992C>T (p.Cys664=)
 dbSNP
1g.43352686C>ACA339994614MPLc.1822C>A (p.Pro608Thr)
c.1801C>A (p.Pro601Thr)
c.480C>A
c.1993C>A (p.Pro665Thr)
1g.43352686C>GCA339994616MPLc.1822C>G (p.Pro608Ala)
c.1801C>G (p.Pro601Ala)
c.480C>G
c.1993C>G (p.Pro665Ala)
1g.43352686C>TCA339994618MPLc.1822C>T (p.Pro608Ser)
c.1801C>T (p.Pro601Ser)
c.480C>T
c.1993C>T (p.Pro665Ser)
1g.43352687C>ACA339994620MPLc.1823C>A (p.Pro608Gln)
c.1802C>A (p.Pro601Gln)
c.481C>A
c.1994C>A (p.Pro665Gln)
1g.43352687C>GCA339994623MPLc.1823C>G (p.Pro608Arg)
c.1802C>G (p.Pro601Arg)
c.481C>G
c.1994C>G (p.Pro665Arg)
1g.43352687C>TCA339994624MPLc.1823C>T (p.Pro608Leu)
c.1802C>T (p.Pro601Leu)
c.481C>T
c.1994C>T (p.Pro665Leu)
 dbSNP
1g.43352688A>CCA417428407MPLc.1824A>C (p.Pro608=)
c.1803A>C (p.Pro601=)
c.482A>C
c.1995A>C (p.Pro665=)
 dbSNP
1g.43352688A>GCA417428408MPLc.1824A>G (p.Pro608=)
c.1803A>G (p.Pro601=)
c.482A>G
c.1995A>G (p.Pro665=)
1g.43352688A>TCA417428409MPLc.1824A>T (p.Pro608=)
c.1803A>T (p.Pro601=)
c.482A>T
c.1995A>T (p.Pro665=)
 dbSNP
1g.43352689C>ACA339994631MPLc.1825C>A (p.Pro609Thr)
c.1804C>A (p.Pro602Thr)
c.483C>A
c.1996C>A (p.Pro666Thr)
1g.43352689C=CA1148248162MPLc.1825C= (p.Pro609=)
c.1804C= (p.Pro602=)
c.483C=
c.1996C= (p.Pro666=)
1g.43352689C>GCA339994629MPLc.1825C>G (p.Pro609Ala)
c.1804C>G (p.Pro602Ala)
c.483C>G
c.1996C>G (p.Pro666Ala)
 dbSNP
1g.43352689C>TCA807031MPLc.1825C>T (p.Pro609Ser)
c.1804C>T (p.Pro602Ser)
c.483C>T
c.1996C>T (p.Pro666Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352690C>ACA807032MPLc.1826C>A (p.Pro609His)
c.1805C>A (p.Pro602His)
c.484C>A
c.1997C>A (p.Pro666His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352690C=CA1165581400MPLc.1826C= (p.Pro609=)
c.1805C= (p.Pro602=)
c.484C=
c.1997C= (p.Pro666=)
1g.43352690C>GCA339994635MPLc.1826C>G (p.Pro609Arg)
c.1805C>G (p.Pro602Arg)
c.484C>G
c.1997C>G (p.Pro666Arg)
1g.43352690C>TCA339994637MPLc.1826C>T (p.Pro609Leu)
c.1805C>T (p.Pro602Leu)
c.484C>T
c.1997C>T (p.Pro666Leu)
 dbSNP gnomAD v4
1g.43352691C>ACA417428410MPLc.1827C>A (p.Pro609=)
c.1806C>A (p.Pro602=)
c.485C>A
c.1998C>A (p.Pro666=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.43352691C=CA1165581401MPLc.1827C= (p.Pro609=)
c.1806C= (p.Pro602=)
c.485C=
c.1998C= (p.Pro666=)
1g.43352691C>GCA417428411MPLc.1827C>G (p.Pro609=)
c.1806C>G (p.Pro602=)
c.485C>G
c.1998C>G (p.Pro666=)
1g.43352691C>TCA417428412MPLc.1827C>T (p.Pro609=)
c.1806C>T (p.Pro602=)
c.485C>T
c.1998C>T (p.Pro666=)
1g.43352692A=CA1165581402MPLc.1828A= (p.Met610=)
c.1807A= (p.Met603=)
c.486A=
c.1999A= (p.Met667=)
1g.43352692A>CCA339994640MPLc.1828A>C (p.Met610Leu)
c.1807A>C (p.Met603Leu)
c.486A>C
c.1999A>C (p.Met667Leu)
1g.43352692A>GCA339994643MPLc.1828A>G (p.Met610Val)
c.1807A>G (p.Met603Val)
c.486A>G
c.1999A>G (p.Met667Val)
 dbSNP gnomAD v2 gnomAD v4
1g.43352692A>TCA339994646MPLc.1828A>T (p.Met610Leu)
c.1807A>T (p.Met603Leu)
c.486A>T
c.1999A>T (p.Met667Leu)
1g.43352693T>ACA339994648MPLc.1829T>A (p.Met610Lys)
c.1808T>A (p.Met603Lys)
c.487T>A
c.2000T>A (p.Met667Lys)
1g.43352693T>CCA339994650MPLc.1829T>C (p.Met610Thr)
c.1808T>C (p.Met603Thr)
c.487T>C
c.2000T>C (p.Met667Thr)
1g.43352693T>GCA339994653MPLc.1829T>G (p.Met610Arg)
c.1808T>G (p.Met603Arg)
c.487T>G
c.2000T>G (p.Met667Arg)
1g.43352694G>ACA339994656MPLc.1830G>A (p.Met610Ile)
c.1809G>A (p.Met603Ile)
c.488G>A
c.2001G>A (p.Met667Ile)
1g.43352694G>CCA339994658MPLc.1830G>C (p.Met610Ile)
c.1809G>C (p.Met603Ile)
c.488G>C
c.2001G>C (p.Met667Ile)
1g.43352694G>TCA339994660MPLc.1830G>T (p.Met610Ile)
c.1809G>T (p.Met603Ile)
c.488G>T
c.2001G>T (p.Met667Ile)
1g.43352695G>ACA339994666MPLc.1831G>A (p.Ala611Thr)
c.1810G>A (p.Ala604Thr)
c.489G>A
c.2002G>A (p.Ala668Thr)
 dbSNP gnomAD v4
1g.43352695G>CCA339994664MPLc.1831G>C (p.Ala611Pro)
c.1810G>C (p.Ala604Pro)
c.489G>C
c.2002G>C (p.Ala668Pro)
1g.43352695G>TCA339994663MPLc.1831G>T (p.Ala611Ser)
c.1810G>T (p.Ala604Ser)
c.489G>T
c.2002G>T (p.Ala668Ser)
1g.43352696C>ACA339994668MPLc.1832C>A (p.Ala611Asp)
c.1811C>A (p.Ala604Asp)
c.490C>A
c.2003C>A (p.Ala668Asp)
 dbSNP
1g.43352696C>GCA339994669MPLc.1832C>G (p.Ala611Gly)
c.1811C>G (p.Ala604Gly)
c.490C>G
c.2003C>G (p.Ala668Gly)
 dbSNP
1g.43352696C>TCA339994671MPLc.1832C>T (p.Ala611Val)
c.1811C>T (p.Ala604Val)
c.490C>T
c.2003C>T (p.Ala668Val)
 dbSNP
1g.43352697T>ACA417428414MPLc.1833T>A (p.Ala611=)
c.1812T>A (p.Ala604=)
c.491T>A
c.2004T>A (p.Ala668=)
1g.43352697T>CCA417428415MPLc.1833T>C (p.Ala611=)
c.1812T>C (p.Ala604=)
c.491T>C
c.2004T>C (p.Ala668=)
1g.43352697T>GCA417428416MPLc.1833T>G (p.Ala611=)
c.1812T>G (p.Ala604=)
c.491T>G
c.2004T>G (p.Ala668=)
1g.43352698G>ACA339994673MPLc.1834G>A (p.Glu612Lys)
c.1813G>A (p.Glu605Lys)
c.492G>A
c.2005G>A (p.Glu669Lys)
 dbSNP gnomAD v4
1g.43352698G>CCA339994676MPLc.1834G>C (p.Glu612Gln)
c.1813G>C (p.Glu605Gln)
c.492G>C
c.2005G>C (p.Glu669Gln)
1g.43352698G=CA1165581403MPLc.1834G= (p.Glu612=)
c.1813G= (p.Glu605=)
c.492G=
c.2005G= (p.Glu669=)
1g.43352698G>TCA339994679MPLc.1834G>T (p.Glu612Ter)
c.1813G>T (p.Glu605Ter)
c.492G>T
c.2005G>T (p.Glu669Ter)
1g.43352699A>CCA339994683MPLc.1835A>C (p.Glu612Ala)
c.1814A>C (p.Glu605Ala)
c.493A>C
c.2006A>C (p.Glu669Ala)
1g.43352699A>GCA339994680MPLc.1835A>G (p.Glu612Gly)
c.1814A>G (p.Glu605Gly)
c.493A>G
c.2006A>G (p.Glu669Gly)
 gnomAD v4
1g.43352699A>TCA339994681MPLc.1835A>T (p.Glu612Val)
c.1814A>T (p.Glu605Val)
c.493A>T
c.2006A>T (p.Glu669Val)
1g.43352700G>ACA417428417MPLc.1836G>A (p.Glu612=)
c.1815G>A (p.Glu605=)
c.494G>A
c.2007G>A (p.Glu669=)
1g.43352700G>CCA339994685MPLc.1836G>C (p.Glu612Asp)
c.1815G>C (p.Glu605Asp)
c.494G>C
c.2007G>C (p.Glu669Asp)
1g.43352700G>TCA339994688MPLc.1836G>T (p.Glu612Asp)
c.1815G>T (p.Glu605Asp)
c.494G>T
c.2007G>T (p.Glu669Asp)
1g.43352701T>ACA339994691MPLc.1837T>A (p.Ser613Thr)
c.1816T>A (p.Ser606Thr)
c.495T>A
c.2008T>A (p.Ser670Thr)
1g.43352701T>CCA339994693MPLc.1837T>C (p.Ser613Pro)
c.1816T>C (p.Ser606Pro)
c.495T>C
c.2008T>C (p.Ser670Pro)
1g.43352701T>GCA339994695MPLc.1837T>G (p.Ser613Ala)
c.1816T>G (p.Ser606Ala)
c.495T>G
c.2008T>G (p.Ser670Ala)
1g.43352702C>ACA339994699MPLc.1838C>A (p.Ser613Ter)
c.1817C>A (p.Ser606Ter)
c.496C>A
c.2009C>A (p.Ser670Ter)
1g.43352702C>GCA339994703MPLc.1838C>G (p.Ser613Ter)
c.1817C>G (p.Ser606Ter)
c.496C>G
c.2009C>G (p.Ser670Ter)
1g.43352702C>TCA339994701MPLc.1838C>T (p.Ser613Leu)
c.1817C>T (p.Ser606Leu)
c.496C>T
c.2009C>T (p.Ser670Leu)
1g.43352703A>CCA417428418MPLc.1839A>C (p.Ser613=)
c.1818A>C (p.Ser606=)
c.497A>C
c.2010A>C (p.Ser670=)
1g.43352703A>GCA417428419MPLc.1839A>G (p.Ser613=)
c.1818A>G (p.Ser606=)
c.497A>G
c.2010A>G (p.Ser670=)
1g.43352703A>TCA417428420MPLc.1839A>T (p.Ser613=)
c.1818A>T (p.Ser606=)
c.497A>T
c.2010A>T (p.Ser670=)
1g.43352704G>ACA339994705MPLc.1840G>A (p.Gly614Arg)
c.1819G>A (p.Gly607Arg)
c.498G>A
c.2011G>A (p.Gly671Arg)
1g.43352704G>CCA339994707MPLc.1840G>C (p.Gly614Arg)
c.1819G>C (p.Gly607Arg)
c.498G>C
c.2011G>C (p.Gly671Arg)
1g.43352704G>TCA339994710MPLc.1840G>T (p.Gly614Trp)
c.1819G>T (p.Gly607Trp)
c.498G>T
c.2011G>T (p.Gly671Trp)
1g.43352705G>ACA339994714MPLc.1841G>A (p.Gly614Glu)
c.1820G>A (p.Gly607Glu)
c.499G>A
c.2012G>A (p.Gly671Glu)
 dbSNP gnomAD v4
1g.43352705G>CCA807033MPLc.1841G>C (p.Gly614Ala)
c.1820G>C (p.Gly607Ala)
c.499G>C
c.2012G>C (p.Gly671Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352705G=CA1141617483MPLc.1841G= (p.Gly614=)
c.1820G= (p.Gly607=)
c.499G=
c.2012G= (p.Gly671=)
1g.43352705G>TCA807034MPLc.1841G>T (p.Gly614Val)
c.1820G>T (p.Gly607Val)
c.499G>T
c.2012G>T (p.Gly671Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352706G>ACA417428421MPLc.1842G>A (p.Gly614=)
c.1821G>A (p.Gly607=)
c.500G>A
c.2013G>A (p.Gly671=)
 ClinVar dbSNP
1g.43352706G>CCA417428422MPLc.1842G>C (p.Gly614=)
c.1821G>C (p.Gly607=)
c.500G>C
c.2013G>C (p.Gly671=)
1g.43352706G=CA1165581404MPLc.1842G= (p.Gly614=)
c.1821G= (p.Gly607=)
c.500G=
c.2013G= (p.Gly671=)
1g.43352706G>TCA807035MPLc.1842G>T (p.Gly614=)
c.1821G>T (p.Gly607=)
c.500G>T
c.2013G>T (p.Gly671=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352707T>ACA339994718MPLc.1843T>A (p.Ser615Thr)
c.1822T>A (p.Ser608Thr)
c.501T>A
c.2014T>A (p.Ser672Thr)
1g.43352707T>CCA339994720MPLc.1843T>C (p.Ser615Pro)
c.1822T>C (p.Ser608Pro)
c.501T>C
c.2014T>C (p.Ser672Pro)
1g.43352707T>GCA339994723MPLc.1843T>G (p.Ser615Ala)
c.1822T>G (p.Ser608Ala)
c.501T>G
c.2014T>G (p.Ser672Ala)
1g.43352708C>ACA339994730MPLc.1844C>A (p.Ser615Tyr)
c.1823C>A (p.Ser608Tyr)
c.502C>A
c.2015C>A (p.Ser672Tyr)
1g.43352708C>GCA339994728MPLc.1844C>G (p.Ser615Cys)
c.1823C>G (p.Ser608Cys)
c.502C>G
c.2015C>G (p.Ser672Cys)
1g.43352708C>TCA339994727MPLc.1844C>T (p.Ser615Phe)
c.1823C>T (p.Ser608Phe)
c.502C>T
c.2015C>T (p.Ser672Phe)
 gnomAD v4
1g.43352709C>ACA417428423MPLc.1845C>A (p.Ser615=)
c.1824C>A (p.Ser608=)
c.503C>A
c.2016C>A (p.Ser672=)
1g.43352709C>GCA417428424MPLc.1845C>G (p.Ser615=)
c.1824C>G (p.Ser608=)
c.503C>G
c.2016C>G (p.Ser672=)
1g.43352709C>TCA417428425MPLc.1845C>T (p.Ser615=)
c.1824C>T (p.Ser608=)
c.503C>T
c.2016C>T (p.Ser672=)
 dbSNP
1g.43352710T>ACA339994732MPLc.1846T>A (p.Cys616Ser)
c.1825T>A (p.Cys609Ser)
c.504T>A
c.2017T>A (p.Cys673Ser)
1g.43352710T>CCA339994737MPLc.1846T>C (p.Cys616Arg)
c.1825T>C (p.Cys609Arg)
c.504T>C
c.2017T>C (p.Cys673Arg)
 dbSNP
1g.43352710T>GCA339994734MPLc.1846T>G (p.Cys616Gly)
c.1825T>G (p.Cys609Gly)
c.504T>G
c.2017T>G (p.Cys673Gly)
1g.43352711G>ACA339994741MPLc.1847G>A (p.Cys616Tyr)
c.1826G>A (p.Cys609Tyr)
c.505G>A
c.2018G>A (p.Cys673Tyr)
 dbSNP gnomAD v4
1g.43352711G>CCA339994748MPLc.1847G>C (p.Cys616Ser)
c.1826G>C (p.Cys609Ser)
c.505G>C
c.2018G>C (p.Cys673Ser)
 dbSNP
1g.43352711G=CA1165581405MPLc.1847G= (p.Cys616=)
c.1826G= (p.Cys609=)
c.505G=
c.2018G= (p.Cys673=)
1g.43352711G>TCA339994745MPLc.1847G>T (p.Cys616Phe)
c.1826G>T (p.Cys609Phe)
c.505G>T
c.2018G>T (p.Cys673Phe)
1g.43352712C>ACA339994751MPLc.1848C>A (p.Cys616Ter)
c.1827C>A (p.Cys609Ter)
c.506C>A
c.2019C>A (p.Cys673Ter)
1g.43352712C>GCA339994753MPLc.1848C>G (p.Cys616Trp)
c.1827C>G (p.Cys609Trp)
c.506C>G
c.2019C>G (p.Cys673Trp)
1g.43352712C>TCA417428426MPLc.1848C>T (p.Cys616=)
c.1827C>T (p.Cys609=)
c.506C>T
c.2019C>T (p.Cys673=)
 dbSNP
1g.43352713T>ACA807036MPLc.1849T>A (p.Cys617Ser)
c.1828T>A (p.Cys610Ser)
c.507T>A
c.2020T>A (p.Cys674Ser)
 dbSNP ExAC
1g.43352713T>CCA339994760MPLc.1849T>C (p.Cys617Arg)
c.1828T>C (p.Cys610Arg)
c.507T>C
c.2020T>C (p.Cys674Arg)
1g.43352713T>GCA339994762MPLc.1849T>G (p.Cys617Gly)
c.1828T>G (p.Cys610Gly)
c.507T>G
c.2020T>G (p.Cys674Gly)
1g.43352713T=CA1165581406MPLc.1849T= (p.Cys617=)
c.1828T= (p.Cys610=)
c.507T=
c.2020T= (p.Cys674=)
1g.43352714G>ACA339994765MPLc.1850G>A (p.Cys617Tyr)
c.1829G>A (p.Cys610Tyr)
c.508G>A
c.2021G>A (p.Cys674Tyr)
 dbSNP gnomAD v4
1g.43352714G>CCA807037MPLc.1850G>C (p.Cys617Ser)
c.1829G>C (p.Cys610Ser)
c.508G>C
c.2021G>C (p.Cys674Ser)
 dbSNP ExAC gnomAD v2
1g.43352714G=CA1143484770MPLc.1850G= (p.Cys617=)
c.1829G= (p.Cys610=)
c.508G=
c.2021G= (p.Cys674=)
1g.43352714G>TCA339994768MPLc.1850G>T (p.Cys617Phe)
c.1829G>T (p.Cys610Phe)
c.508G>T
c.2021G>T (p.Cys674Phe)
1g.43352715T>ACA339994769MPLc.1851T>A (p.Cys617Ter)
c.1830T>A (p.Cys610Ter)
c.509T>A
c.2022T>A (p.Cys674Ter)
1g.43352715T>CCA417428427MPLc.1851T>C (p.Cys617=)
c.1830T>C (p.Cys610=)
c.509T>C
c.2022T>C (p.Cys674=)
 gnomAD v4
1g.43352715T>GCA339994770MPLc.1851T>G (p.Cys617Trp)
c.1830T>G (p.Cys610Trp)
c.509T>G
c.2022T>G (p.Cys674Trp)
1g.43352716A>CCA339994773MPLc.1852A>C (p.Thr618Pro)
c.1831A>C (p.Thr611Pro)
c.510A>C
c.2023A>C (p.Thr675Pro)
1g.43352716A>GCA339994772MPLc.1852A>G (p.Thr618Ala)
c.1831A>G (p.Thr611Ala)
c.510A>G
c.2023A>G (p.Thr675Ala)
1g.43352716A>TCA339994771MPLc.1852A>T (p.Thr618Ser)
c.1831A>T (p.Thr611Ser)
c.510A>T
c.2023A>T (p.Thr675Ser)
1g.43352717C>ACA339994774MPLc.1853C>A (p.Thr618Asn)
c.1832C>A (p.Thr611Asn)
c.511C>A
c.2024C>A (p.Thr675Asn)
1g.43352717C>GCA339994775MPLc.1853C>G (p.Thr618Ser)
c.1832C>G (p.Thr611Ser)
c.511C>G
c.2024C>G (p.Thr675Ser)
 dbSNP
1g.43352717C>TCA339994776MPLc.1853C>T (p.Thr618Ile)
c.1832C>T (p.Thr611Ile)
c.511C>T
c.2024C>T (p.Thr675Ile)
 dbSNP
1g.43352718C>ACA417428428MPLc.1854C>A (p.Thr618=)
c.1833C>A (p.Thr611=)
c.512C>A
c.2025C>A (p.Thr675=)
1g.43352718C>GCA417428429MPLc.1854C>G (p.Thr618=)
c.1833C>G (p.Thr611=)
c.512C>G
c.2025C>G (p.Thr675=)
1g.43352718C>TCA417428430MPLc.1854C>T (p.Thr618=)
c.1833C>T (p.Thr611=)
c.512C>T
c.2025C>T (p.Thr675=)
 dbSNP
1g.43352719A=CA1165581407MPLc.1855A= (p.Thr619=)
c.1834A= (p.Thr612=)
c.513A=
c.2026A= (p.Thr676=)
1g.43352719A>CCA339994778MPLc.1855A>C (p.Thr619Pro)
c.1834A>C (p.Thr612Pro)
c.513A>C
c.2026A>C (p.Thr676Pro)
 dbSNP
1g.43352719A>GCA339994779MPLc.1855A>G (p.Thr619Ala)
c.1834A>G (p.Thr612Ala)
c.513A>G
c.2026A>G (p.Thr676Ala)
1g.43352719A>TCA339994782MPLc.1855A>T (p.Thr619Ser)
c.1834A>T (p.Thr612Ser)
c.513A>T
c.2026A>T (p.Thr676Ser)
 dbSNP
1g.43352720C>ACA339994786MPLc.1856C>A (p.Thr619Asn)
c.1835C>A (p.Thr612Asn)
c.514C>A
c.2027C>A (p.Thr676Asn)
1g.43352720C>GCA339994790MPLc.1856C>G (p.Thr619Ser)
c.1835C>G (p.Thr612Ser)
c.514C>G
c.2027C>G (p.Thr676Ser)
1g.43352720C>TCA339994793MPLc.1856C>T (p.Thr619Ile)
c.1835C>T (p.Thr612Ile)
c.514C>T
c.2027C>T (p.Thr676Ile)
 dbSNP gnomAD v4
1g.43352721C>ACA417428431MPLc.1857C>A (p.Thr619=)
c.1836C>A (p.Thr612=)
c.515C>A
c.2028C>A (p.Thr676=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.43352721C>GCA417428432MPLc.1857C>G (p.Thr619=)
c.1836C>G (p.Thr612=)
c.515C>G
c.2028C>G (p.Thr676=)
1g.43352721C>TCA417428433MPLc.1857C>T (p.Thr619=)
c.1836C>T (p.Thr612=)
c.515C>T
c.2028C>T (p.Thr676=)
 ClinVar dbSNP
1g.43352722C>ACA339994797MPLc.1858C>A (p.His620Asn)
c.1837C>A (p.His613Asn)
c.516C>A
c.2029C>A (p.His677Asn)
 dbSNP
1g.43352722C>GCA339994799MPLc.1858C>G (p.His620Asp)
c.1837C>G (p.His613Asp)
c.516C>G
c.2029C>G (p.His677Asp)
 gnomAD v4
1g.43352722C>TCA339994801MPLc.1858C>T (p.His620Tyr)
c.1837C>T (p.His613Tyr)
c.516C>T
c.2029C>T (p.His677Tyr)
 gnomAD v4
1g.43352723A>CCA339994810MPLc.1859A>C (p.His620Pro)
c.1838A>C (p.His613Pro)
c.517A>C
c.2030A>C (p.His677Pro)
 gnomAD v4
1g.43352723A>GCA339994813MPLc.1859A>G (p.His620Arg)
c.1838A>G (p.His613Arg)
c.517A>G
c.2030A>G (p.His677Arg)
1g.43352723A>TCA339994809MPLc.1859A>T (p.His620Leu)
c.1838A>T (p.His613Leu)
c.517A>T
c.2030A>T (p.His677Leu)
1g.43352724C>ACA339994816MPLc.1860C>A (p.His620Gln)
c.1839C>A (p.His613Gln)
c.518C>A
c.2031C>A (p.His677Gln)
1g.43352724C=CA1165581408MPLc.1860C= (p.His620=)
c.1839C= (p.His613=)
c.518C=
c.2031C= (p.His677=)
1g.43352724C>GCA807038MPLc.1860C>G (p.His620Gln)
c.1839C>G (p.His613Gln)
c.518C>G
c.2031C>G (p.His677Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352724C>TCA417428434MPLc.1860C>T (p.His620=)
c.1839C>T (p.His613=)
c.518C>T
c.2031C>T (p.His677=)
 ClinVar dbSNP
1g.43352725A>CCA339994820MPLc.1861A>C (p.Ile621Leu)
c.1840A>C (p.Ile614Leu)
c.519A>C
c.2032A>C (p.Ile678Leu)
1g.43352725A>GCA339994822MPLc.1861A>G (p.Ile621Val)
c.1840A>G (p.Ile614Val)
c.519A>G
c.2032A>G (p.Ile678Val)
1g.43352725A>TCA339994823MPLc.1861A>T (p.Ile621Phe)
c.1840A>T (p.Ile614Phe)
c.519A>T
c.2032A>T (p.Ile678Phe)
1g.43352726T>ACA339994826MPLc.1862T>A (p.Ile621Asn)
c.1841T>A (p.Ile614Asn)
c.520T>A
c.2033T>A (p.Ile678Asn)
 gnomAD v4
1g.43352726T>CCA339994828MPLc.1862T>C (p.Ile621Thr)
c.1841T>C (p.Ile614Thr)
c.520T>C
c.2033T>C (p.Ile678Thr)
1g.43352726T>GCA339994830MPLc.1862T>G (p.Ile621Ser)
c.1841T>G (p.Ile614Ser)
c.520T>G
c.2033T>G (p.Ile678Ser)
1g.43352727T>ACA417428435MPLc.1863T>A (p.Ile621=)
c.1842T>A (p.Ile614=)
c.521T>A
c.2034T>A (p.Ile678=)
1g.43352727T>CCA417428436MPLc.1863T>C (p.Ile621=)
c.1842T>C (p.Ile614=)
c.521T>C
c.2034T>C (p.Ile678=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43352727T>GCA339994832MPLc.1863T>G (p.Ile621Met)
c.1842T>G (p.Ile614Met)
c.521T>G
c.2034T>G (p.Ile678Met)
1g.43352727T=CA1165581409MPLc.1863T= (p.Ile621=)
c.1842T= (p.Ile614=)
c.521T=
c.2034T= (p.Ile678=)
1g.43352728G>ACA339994835MPLc.1864G>A (p.Ala622Thr)
c.1843G>A (p.Ala615Thr)
c.522G>A
c.2035G>A (p.Ala679Thr)
 dbSNP gnomAD v4
1g.43352728G>CCA339994836MPLc.1864G>C (p.Ala622Pro)
c.1843G>C (p.Ala615Pro)
c.522G>C
c.2035G>C (p.Ala679Pro)
1g.43352728G>TCA339994838MPLc.1864G>T (p.Ala622Ser)
c.1843G>T (p.Ala615Ser)
c.522G>T
c.2035G>T (p.Ala679Ser)
1g.43352729C>ACA339994844MPLc.1865C>A (p.Ala622Asp)
c.1844C>A (p.Ala615Asp)
c.523C>A
c.2036C>A (p.Ala679Asp)
1g.43352729C>GCA339994847MPLc.1865C>G (p.Ala622Gly)
c.1844C>G (p.Ala615Gly)
c.523C>G
c.2036C>G (p.Ala679Gly)
1g.43352729C>TCA339994841MPLc.1865C>T (p.Ala622Val)
c.1844C>T (p.Ala615Val)
c.523C>T
c.2036C>T (p.Ala679Val)
 dbSNP gnomAD v4
1g.43352730C>ACA417428437MPLc.1866C>A (p.Ala622=)
c.1845C>A (p.Ala615=)
c.524C>A
c.2037C>A (p.Ala679=)
 dbSNP
1g.43352730C>GCA417428438MPLc.1866C>G (p.Ala622=)
c.1845C>G (p.Ala615=)
c.524C>G
c.2037C>G (p.Ala679=)
1g.43352730C>TCA417428440MPLc.1866C>T (p.Ala622=)
c.1845C>T (p.Ala615=)
c.524C>T
c.2037C>T (p.Ala679=)
 dbSNP
1g.43352731A>CCA339994848MPLc.1867A>C (p.Asn623His)
c.1846A>C (p.Asn616His)
c.525A>C
c.2038A>C (p.Asn680His)
1g.43352731A>GCA339994849MPLc.1867A>G (p.Asn623Asp)
c.1846A>G (p.Asn616Asp)
c.525A>G
c.2038A>G (p.Asn680Asp)
 gnomAD v4
1g.43352731A>TCA339994850MPLc.1867A>T (p.Asn623Tyr)
c.1846A>T (p.Asn616Tyr)
c.525A>T
c.2038A>T (p.Asn680Tyr)
1g.43352732A>CCA339994851MPLc.1868A>C (p.Asn623Thr)
c.1847A>C (p.Asn616Thr)
c.526A>C
c.2039A>C (p.Asn680Thr)
1g.43352732A>GCA339994853MPLc.1868A>G (p.Asn623Ser)
c.1847A>G (p.Asn616Ser)
c.526A>G
c.2039A>G (p.Asn680Ser)
1g.43352732A>TCA339994856MPLc.1868A>T (p.Asn623Ile)
c.1847A>T (p.Asn616Ile)
c.526A>T
c.2039A>T (p.Asn680Ile)
1g.43352733C>ACA339994858MPLc.1869C>A (p.Asn623Lys)
c.1848C>A (p.Asn616Lys)
c.527C>A
c.2040C>A (p.Asn680Lys)
 dbSNP
1g.43352733C>GCA339994860MPLc.1869C>G (p.Asn623Lys)
c.1848C>G (p.Asn616Lys)
c.527C>G
c.2040C>G (p.Asn680Lys)
1g.43352733C>TCA417428442MPLc.1869C>T (p.Asn623=)
c.1848C>T (p.Asn616=)
c.527C>T
c.2040C>T (p.Asn680=)
1g.43352734C>ACA339994863MPLc.1870C>A (p.His624Asn)
c.1849C>A (p.His617Asn)
c.528C>A
c.2041C>A (p.His681Asn)
1g.43352734C>GCA339994865MPLc.1870C>G (p.His624Asp)
c.1849C>G (p.His617Asp)
c.528C>G
c.2041C>G (p.His681Asp)
 gnomAD v4 COSMIC
1g.43352734C>TCA339994867MPLc.1870C>T (p.His624Tyr)
c.1849C>T (p.His617Tyr)
c.528C>T
c.2041C>T (p.His681Tyr)
 dbSNP
1g.43352735A>CCA339994870MPLc.1871A>C (p.His624Pro)
c.1850A>C (p.His617Pro)
c.529A>C
c.2042A>C (p.His681Pro)
1g.43352735A>GCA339994872MPLc.1871A>G (p.His624Arg)
c.1850A>G (p.His617Arg)
c.529A>G
c.2042A>G (p.His681Arg)
1g.43352735A>TCA339994874MPLc.1871A>T (p.His624Leu)
c.1850A>T (p.His617Leu)
c.529A>T
c.2042A>T (p.His681Leu)
1g.43352736T>ACA339994876MPLc.1872T>A (p.His624Gln)
c.1851T>A (p.His617Gln)
c.530T>A
c.2043T>A (p.His681Gln)
1g.43352736T>CCA417428443MPLc.1872T>C (p.His624=)
c.1851T>C (p.His617=)
c.530T>C
c.2043T>C (p.His681=)
1g.43352736T>GCA339994879MPLc.1872T>G (p.His624Gln)
c.1851T>G (p.His617Gln)
c.530T>G
c.2043T>G (p.His681Gln)
1g.43352737T>ACA339994881MPLc.1873T>A (p.Ser625Thr)
c.1852T>A (p.Ser618Thr)
c.2044T>A (p.Ser682Thr)
1g.43352737T>CCA339994884MPLc.1873T>C (p.Ser625Pro)
c.1852T>C (p.Ser618Pro)
c.2044T>C (p.Ser682Pro)
1g.43352737T>GCA21616500MPLc.1873T>G (p.Ser625Ala)
c.1852T>G (p.Ser618Ala)
c.2044T>G (p.Ser682Ala)
 dbSNP
1g.43352737T=CA1143541873MPLc.1873T= (p.Ser625=)
c.1852T= (p.Ser618=)
c.2044T= (p.Ser682=)
1g.43352738C>ACA339994889MPLc.1874C>A (p.Ser625Tyr)
c.1853C>A (p.Ser618Tyr)
c.2045C>A (p.Ser682Tyr)
1g.43352738C=CA1165581410MPLc.1874C= (p.Ser625=)
c.1853C= (p.Ser618=)
c.2045C= (p.Ser682=)
1g.43352738C>GCA339994891MPLc.1874C>G (p.Ser625Cys)
c.1853C>G (p.Ser618Cys)
c.2045C>G (p.Ser682Cys)
 dbSNP
1g.43352738C>TCA339994894MPLc.1874C>T (p.Ser625Phe)
c.1853C>T (p.Ser618Phe)
c.2045C>T (p.Ser682Phe)
1g.43352739C>ACA417428444MPLc.1875C>A (p.Ser625=)
c.1854C>A (p.Ser618=)
c.2046C>A (p.Ser682=)
1g.43352739C>GCA417428445MPLc.1875C>G (p.Ser625=)
c.1854C>G (p.Ser618=)
c.2046C>G (p.Ser682=)
1g.43352739C>TCA417428446MPLc.1875C>T (p.Ser625=)
c.1854C>T (p.Ser618=)
c.2046C>T (p.Ser682=)
1g.43352740T>ACA339994898MPLc.1876T>A (p.Tyr626Asn)
c.1855T>A (p.Tyr619Asn)
c.2047T>A (p.Tyr683Asn)
1g.43352740T>CCA339994900MPLc.1876T>C (p.Tyr626His)
c.1855T>C (p.Tyr619His)
c.2047T>C (p.Tyr683His)
1g.43352740T>GCA339994907MPLc.1876T>G (p.Tyr626Asp)
c.1855T>G (p.Tyr619Asp)
c.2047T>G (p.Tyr683Asp)
1g.43352741A=CA1165581411MPLc.1877A= (p.Tyr626=)
c.1856A= (p.Tyr619=)
c.2048A= (p.Tyr683=)
1g.43352741A>CCA807039MPLc.1877A>C (p.Tyr626Ser)
c.1856A>C (p.Tyr619Ser)
c.2048A>C (p.Tyr683Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352741A>GCA339994911MPLc.1877A>G (p.Tyr626Cys)
c.1856A>G (p.Tyr619Cys)
c.2048A>G (p.Tyr683Cys)
1g.43352741A>TCA339994913MPLc.1877A>T (p.Tyr626Phe)
c.1856A>T (p.Tyr619Phe)
c.2048A>T (p.Tyr683Phe)
1g.43352742C>ACA339994915MPLc.1878C>A (p.Tyr626Ter)
c.1857C>A (p.Tyr619Ter)
c.2049C>A (p.Tyr683Ter)
 dbSNP
1g.43352742C>GCA339994917MPLc.1878C>G (p.Tyr626Ter)
c.1857C>G (p.Tyr619Ter)
c.2049C>G (p.Tyr683Ter)
1g.43352742C>TCA417428447MPLc.1878C>T (p.Tyr626=)
c.1857C>T (p.Tyr619=)
c.2049C>T (p.Tyr683=)
1g.43352743C>ACA339994922MPLc.1879C>A (p.Leu627Ile)
c.1858C>A (p.Leu620Ile)
c.2050C>A (p.Leu684Ile)
1g.43352743C=CA1165581412MPLc.1879C= (p.Leu627=)
c.1858C= (p.Leu620=)
c.2050C= (p.Leu684=)
1g.43352743C>GCA339994921MPLc.1879C>G (p.Leu627Val)
c.1858C>G (p.Leu620Val)
c.2050C>G (p.Leu684Val)
 dbSNP gnomAD v2 gnomAD v4
1g.43352743C>TCA417428450MPLc.1879C>T (p.Leu627=)
c.1858C>T (p.Leu620=)
c.2050C>T (p.Leu684=)
1g.43352744T>ACA339994928MPLc.1880T>A (p.Leu627Gln)
c.1859T>A (p.Leu620Gln)
c.2051T>A (p.Leu684Gln)
 dbSNP
1g.43352744T>CCA339994930MPLc.1880T>C (p.Leu627Pro)
c.1859T>C (p.Leu620Pro)
c.2051T>C (p.Leu684Pro)
1g.43352744T>GCA339994931MPLc.1880T>G (p.Leu627Arg)
c.1859T>G (p.Leu620Arg)
c.2051T>G (p.Leu684Arg)
1g.43352745A>CCA417428451MPLc.1881A>C (p.Leu627=)
c.1860A>C (p.Leu620=)
c.2052A>C (p.Leu684=)
1g.43352745A>GCA417428452MPLc.1881A>G (p.Leu627=)
c.1860A>G (p.Leu620=)
c.2052A>G (p.Leu684=)
1g.43352745A>TCA417428453MPLc.1881A>T (p.Leu627=)
c.1860A>T (p.Leu620=)
c.2052A>T (p.Leu684=)
1g.43352746C>ACA339994934MPLc.1882C>A (p.Pro628Thr)
c.1861C>A (p.Pro621Thr)
c.2053C>A (p.Pro685Thr)
1g.43352746C=CA1165581413MPLc.1882C= (p.Pro628=)
c.1861C= (p.Pro621=)
c.2053C= (p.Pro685=)
1g.43352746C>GCA339994935MPLc.1882C>G (p.Pro628Ala)
c.1861C>G (p.Pro621Ala)
c.2053C>G (p.Pro685Ala)
1g.43352746C>TCA807040MPLc.1882C>T (p.Pro628Ser)
c.1861C>T (p.Pro621Ser)
c.2053C>T (p.Pro685Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43352747C>ACA339994943MPLc.1883C>A (p.Pro628Gln)
c.1862C>A (p.Pro621Gln)
c.2054C>A (p.Pro685Gln)
 dbSNP
1g.43352747C>GCA339994938MPLc.1883C>G (p.Pro628Arg)
c.1862C>G (p.Pro621Arg)
c.2054C>G (p.Pro685Arg)
1g.43352747C>TCA339994940MPLc.1883C>T (p.Pro628Leu)
c.1862C>T (p.Pro621Leu)
c.2054C>T (p.Pro685Leu)
1g.43352748A>CCA417428457MPLc.1884A>C (p.Pro628=)
c.1863A>C (p.Pro621=)
c.2055A>C (p.Pro685=)
1g.43352748A>GCA417428458MPLc.1884A>G (p.Pro628=)
c.1863A>G (p.Pro621=)
c.2055A>G (p.Pro685=)
1g.43352748A>TCA417428460MPLc.1884A>T (p.Pro628=)
c.1863A>T (p.Pro621=)
c.2055A>T (p.Pro685=)
1g.43352749C>ACA339994944MPLc.1885C>A (p.Leu629Ile)
c.1864C>A (p.Leu622Ile)
c.2056C>A (p.Leu686Ile)
1g.43352749C>GCA339994950MPLc.1885C>G (p.Leu629Val)
c.1864C>G (p.Leu622Val)
c.2056C>G (p.Leu686Val)
 dbSNP
1g.43352749C>TCA417428463MPLc.1885C>T (p.Leu629=)
c.1864C>T (p.Leu622=)
c.2056C>T (p.Leu686=)
1g.43352750T>ACA339994958MPLc.1886T>A (p.Leu629Gln)
c.1865T>A (p.Leu622Gln)
c.2057T>A (p.Leu686Gln)
1g.43352750T>CCA339994959MPLc.1886T>C (p.Leu629Pro)
c.1865T>C (p.Leu622Pro)
c.2057T>C (p.Leu686Pro)
 COSMIC
1g.43352750T>GCA339994960MPLc.1886T>G (p.Leu629Arg)
c.1865T>G (p.Leu622Arg)
c.2057T>G (p.Leu686Arg)
 dbSNP
1g.43352750_43352751insGGCA645528780MPLc.1886_1887insGG (p.Ser630GlufsTer?)
c.1865_1866insGG (p.Ser623GlufsTer?)
c.2057_2058insGG (p.Ser687GlufsTer?)
 COSMIC
1g.43352751A>CCA417428464MPLc.1887A>C (p.Leu629=)
c.1866A>C (p.Leu622=)
c.2058A>C (p.Leu686=)
 gnomAD v4
1g.43352751A>GCA417428465MPLc.1887A>G (p.Leu629=)
c.1866A>G (p.Leu622=)
c.2058A>G (p.Leu686=)
1g.43352751A>TCA417428466MPLc.1887A>T (p.Leu629=)
c.1866A>T (p.Leu622=)
c.2058A>T (p.Leu686=)
1g.43352752delCA2573332062MPLc.1888del (p.Ser630AlafsTer?)
c.1867del (p.Ser623AlafsTer?)
c.2059del (p.Ser687AlafsTer?)
1g.43352752_43352852dupCA2645224781MPLc.1888_*80dup (n.1888_*80dup)
c.1867_*80dup (n.1867_*80dup)
c.2059_*80dup (n.2059_*80dup)
 gnomAD v4
1g.43352752A>CCA339994961MPLc.1888A>C (p.Ser630Arg)
c.1867A>C (p.Ser623Arg)
c.2059A>C (p.Ser687Arg)
1g.43352752A>GCA339994963MPLc.1888A>G (p.Ser630Gly)
c.1867A>G (p.Ser623Gly)
c.2059A>G (p.Ser687Gly)
1g.43352752A>TCA339994962MPLc.1888A>T (p.Ser630Cys)
c.1867A>T (p.Ser623Cys)
c.2059A>T (p.Ser687Cys)
 dbSNP
1g.43352753G>ACA339994964MPLc.1889G>A (p.Ser630Asn)
c.1868G>A (p.Ser623Asn)
c.2060G>A (p.Ser687Asn)
1g.43352753G>CCA339994967MPLc.1889G>C (p.Ser630Thr)
c.1868G>C (p.Ser623Thr)
c.2060G>C (p.Ser687Thr)
1g.43352753G>TCA339994970MPLc.1889G>T (p.Ser630Ile)
c.1868G>T (p.Ser623Ile)
c.2060G>T (p.Ser687Ile)
 dbSNP
1g.43352754delCA2695202339MPLc.1890del (p.Tyr631IlefsTer?)
c.1869del (p.Tyr624IlefsTer?)
c.2061del (p.Tyr688IlefsTer?)
1g.43352754C>ACA339994971MPLc.1890C>A (p.Ser630Arg)
c.1869C>A (p.Ser623Arg)
c.2061C>A (p.Ser687Arg)
1g.43352754C>GCA339994972MPLc.1890C>G (p.Ser630Arg)
c.1869C>G (p.Ser623Arg)
c.2061C>G (p.Ser687Arg)
 COSMIC
1g.43352754C>TCA417428469MPLc.1890C>T (p.Ser630=)
c.1869C>T (p.Ser623=)
c.2061C>T (p.Ser687=)
1g.43352755delCA2573320398MPLc.1891del (p.Tyr631IlefsTer?)
c.1870del (p.Tyr624IlefsTer?)
c.2062del (p.Tyr688IlefsTer?)
1g.43352755T>ACA339994973MPLc.1891T>A (p.Tyr631Asn)
c.1870T>A (p.Tyr624Asn)
c.2062T>A (p.Tyr688Asn)
 dbSNP
1g.43352755T>CCA339994975MPLc.1891T>C (p.Tyr631His)
c.1870T>C (p.Tyr624His)
c.2062T>C (p.Tyr688His)
1g.43352755T>GCA339994977MPLc.1891T>G (p.Tyr631Asp)
c.1870T>G (p.Tyr624Asp)
c.2062T>G (p.Tyr688Asp)
1g.43352756delCA645528781MPLc.1892del (p.Tyr631PhefsTer?)
c.1871del (p.Tyr624PhefsTer?)
c.2063del (p.Tyr688PhefsTer?)
 COSMIC
1g.43352756A>CCA339994979MPLc.1892A>C (p.Tyr631Ser)
c.1871A>C (p.Tyr624Ser)
c.2063A>C (p.Tyr688Ser)
1g.43352756A>GCA339994988MPLc.1892A>G (p.Tyr631Cys)
c.1871A>G (p.Tyr624Cys)
c.2063A>G (p.Tyr688Cys)
 gnomAD v4
1g.43352756A>TCA339994991MPLc.1892A>T (p.Tyr631Phe)
c.1871A>T (p.Tyr624Phe)
c.2063A>T (p.Tyr688Phe)
 dbSNP
1g.43352757T>ACA339994993MPLc.1893T>A (p.Tyr631Ter)
c.1872T>A (p.Tyr624Ter)
c.2064T>A (p.Tyr688Ter)
1g.43352757T>CCA417428472MPLc.1893T>C (p.Tyr631=)
c.1872T>C (p.Tyr624=)
c.2064T>C (p.Tyr688=)
 ClinVar dbSNP gnomAD v4
1g.43352757T>GCA339994995MPLc.1893T>G (p.Tyr631Ter)
c.1872T>G (p.Tyr624Ter)
c.2064T>G (p.Tyr688Ter)
1g.43352757T=CA1165581414MPLc.1893T= (p.Tyr631=)
c.1872T= (p.Tyr624=)
c.2064T= (p.Tyr688=)
1g.43352758T>ACA339995006MPLc.1894T>A (p.Trp632Arg)
c.1873T>A (p.Trp625Arg)
c.2065T>A (p.Trp689Arg)
1g.43352758T>CCA807041MPLc.1894T>C (p.Trp632Arg)
c.1873T>C (p.Trp625Arg)
c.2065T>C (p.Trp689Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352758T>GCA339995004MPLc.1894T>G (p.Trp632Gly)
c.1873T>G (p.Trp625Gly)
c.2065T>G (p.Trp689Gly)
1g.43352758T=CA1144925446MPLc.1894T= (p.Trp632=)
c.1873T= (p.Trp625=)
c.2065T= (p.Trp689=)
1g.43352759G>ACA339995008MPLc.1895G>A (p.Trp632Ter)
c.1874G>A (p.Trp625Ter)
c.2066G>A (p.Trp689Ter)
1g.43352759G>CCA339995010MPLc.1895G>C (p.Trp632Ser)
c.1874G>C (p.Trp625Ser)
c.2066G>C (p.Trp689Ser)
1g.43352759G>TCA339995015MPLc.1895G>T (p.Trp632Leu)
c.1874G>T (p.Trp625Leu)
c.2066G>T (p.Trp689Leu)
1g.43352760G>ACA339995017MPLc.1896G>A (p.Trp632Ter)
c.1875G>A (p.Trp625Ter)
c.2067G>A (p.Trp689Ter)
1g.43352760G>CCA807042MPLc.1896G>C (p.Trp632Cys)
c.1875G>C (p.Trp625Cys)
c.2067G>C (p.Trp689Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.43352760G=CA1165581415MPLc.1896G= (p.Trp632=)
c.1875G= (p.Trp625=)
c.2067G= (p.Trp689=)
1g.43352760G>TCA339995023MPLc.1896G>T (p.Trp632Cys)
c.1875G>T (p.Trp625Cys)
c.2067G>T (p.Trp689Cys)
1g.43352761C>ACA339995028MPLc.1897C>A (p.Gln633Lys)
c.1876C>A (p.Gln626Lys)
c.2068C>A (p.Gln690Lys)
1g.43352761C>GCA339995030MPLc.1897C>G (p.Gln633Glu)
c.1876C>G (p.Gln626Glu)
c.2068C>G (p.Gln690Glu)
1g.43352761C>TCA339995032MPLc.1897C>T (p.Gln633Ter)
c.1876C>T (p.Gln626Ter)
c.2068C>T (p.Gln690Ter)
 ClinVar dbSNP
1g.43352762A>CCA339995037MPLc.1898A>C (p.Gln633Pro)
c.1877A>C (p.Gln626Pro)
c.2069A>C (p.Gln690Pro)
1g.43352762A>GCA339995038MPLc.1898A>G (p.Gln633Arg)
c.1877A>G (p.Gln626Arg)
c.2069A>G (p.Gln690Arg)
1g.43352762A>TCA339995040MPLc.1898A>T (p.Gln633Leu)
c.1877A>T (p.Gln626Leu)
c.2069A>T (p.Gln690Leu)
1g.43352763G>ACA417428475MPLc.1899G>A (p.Gln633=)
c.1878G>A (p.Gln626=)
c.2070G>A (p.Gln690=)
 dbSNP
1g.43352763G>CCA339995043MPLc.1899G>C (p.Gln633His)
c.1878G>C (p.Gln626His)
c.2070G>C (p.Gln690His)
 dbSNP
1g.43352763G>TCA339995044MPLc.1899G>T (p.Gln633His)
c.1878G>T (p.Gln626His)
c.2070G>T (p.Gln690His)
1g.43352764C>ACA339995045MPLc.1900C>A (p.Gln634Lys)
c.1879C>A (p.Gln627Lys)
c.2071C>A (p.Gln691Lys)
 dbSNP
1g.43352764C=CA1165581416MPLc.1900C= (p.Gln634=)
c.1879C= (p.Gln627=)
c.2071C= (p.Gln691=)
1g.43352764C>GCA339995048MPLc.1900C>G (p.Gln634Glu)
c.1879C>G (p.Gln627Glu)
c.2071C>G (p.Gln691Glu)
 dbSNP
1g.43352764C>TCA339995046MPLc.1900C>T (p.Gln634Ter)
c.1879C>T (p.Gln627Ter)
c.2071C>T (p.Gln691Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.43352765A>CCA339995050MPLc.1901A>C (p.Gln634Pro)
c.1880A>C (p.Gln627Pro)
c.2072A>C (p.Gln691Pro)
1g.43352765A>GCA339995055MPLc.1901A>G (p.Gln634Arg)
c.1880A>G (p.Gln627Arg)
c.2072A>G (p.Gln691Arg)
1g.43352765A>TCA339995052MPLc.1901A>T (p.Gln634Leu)
c.1880A>T (p.Gln627Leu)
c.2072A>T (p.Gln691Leu)
1g.43352766G>ACA417428477MPLc.1902G>A (p.Gln634=)
c.1881G>A (p.Gln627=)
c.2073G>A (p.Gln691=)
1g.43352766G>CCA339995057MPLc.1902G>C (p.Gln634His)
c.1881G>C (p.Gln627His)
c.2073G>C (p.Gln691His)
1g.43352766G>TCA339995060MPLc.1902G>T (p.Gln634His)
c.1881G>T (p.Gln627His)
c.2073G>T (p.Gln691His)
1g.43352767C>ACA339995065MPLc.1903C>A (p.Pro635Thr)
c.1882C>A (p.Pro628Thr)
c.2074C>A (p.Pro692Thr)
1g.43352767C>GCA339995074MPLc.1903C>G (p.Pro635Ala)
c.1882C>G (p.Pro628Ala)
c.2074C>G (p.Pro692Ala)
1g.43352767C>TCA339995068MPLc.1903C>T (p.Pro635Ser)
c.1882C>T (p.Pro628Ser)
c.2074C>T (p.Pro692Ser)
 dbSNP
1g.43352768C>ACA339995079MPLc.1904C>A (p.Pro635His)
c.1883C>A (p.Pro628His)
c.2075C>A (p.Pro692His)
1g.43352768C=CA1141580753MPLc.1904C= (p.Pro635=)
c.1883C= (p.Pro628=)
c.2075C= (p.Pro692=)
1g.43352768C>GCA339995083MPLc.1904C>G (p.Pro635Arg)
c.1883C>G (p.Pro628Arg)
c.2075C>G (p.Pro692Arg)
1g.43352768C>TCA123777MPLc.1904C>T (p.Pro635Leu)
c.1883C>T (p.Pro628Leu)
c.2075C>T (p.Pro692Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43352769T>ACA417428481MPLc.1905T>A (p.Pro635=)
c.1884T>A (p.Pro628=)
c.2076T>A (p.Pro692=)
1g.43352769T>CCA417428482MPLc.1905T>C (p.Pro635=)
c.1884T>C (p.Pro628=)
c.2076T>C (p.Pro692=)
 ClinVar
1g.43352769T>GCA417428483MPLc.1905T>G (p.Pro635=)
c.1884T>G (p.Pro628=)
c.2076T>G (p.Pro692=)
1g.43352770T>ACA339995085MPLc.1906T>A (p.Ter636Arg)
c.1885T>A (p.Ter629Arg)
c.2077T>A (p.Ter693Arg)
1g.43352770T>CCA339995090MPLc.1906T>C (p.Ter636Arg)
c.1885T>C (p.Ter629Arg)
c.2077T>C (p.Ter693Arg)
 gnomAD v4
1g.43352770T>GCA339995087MPLc.1906T>G (p.Ter636Gly)
c.1885T>G (p.Ter629Gly)
c.2077T>G (p.Ter693Gly)
1g.43352771G>ACA417428484MPLc.1907G>A (p.Ter636=)
c.1886G>A (p.Ter629=)
c.2078G>A (p.Ter693=)
1g.43352771G>CCA339995095MPLc.1907G>C (p.Ter636Ser)
c.1886G>C (p.Ter629Ser)
c.2078G>C (p.Ter693Ser)
1g.43352771G>TCA339995096MPLc.1907G>T (p.Ter636Leu)
c.1886G>T (p.Ter629Leu)
c.2078G>T (p.Ter693Leu)
1g.43352772A=CA1165581417MPLc.1908A= (p.Ter636=)
c.1887A= (p.Ter629=)
c.2079A= (p.Ter693=)
1g.43352772A>CCA339995099MPLc.1908A>C (p.Ter636Cys)
c.1887A>C (p.Ter629Cys)
c.2079A>C (p.Ter693Cys)
1g.43352772A>GCA807043MPLc.1908A>G (p.Ter636Trp)
c.1887A>G (p.Ter629Trp)
c.2079A>G (p.Ter693Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43352772A>TCA339995101MPLc.1908A>T (p.Ter636Cys)
c.1887A>T (p.Ter629Cys)
c.2079A>T (p.Ter693Cys)
 dbSNP
1g.43352773G>ACA2645224812MPLc.*1G>A (n.*1G>A)
 gnomAD v4
1g.43352774_43352775delinsGACA1165581418MPLc.*2_*3delinsGA (n.*2_*3delinsGA)
1g.43352775delCA1001099654MPLc.*3del (n.*3del)
 dbSNP gnomAD v3 gnomAD v4
1g.43352775A>GCA2695812950MPLc.*3A>G (n.*3A>G)
 dbSNP
1g.43352775A>TCA2645224816MPLc.*3A>T (n.*3A>T)
 gnomAD v4

Number of alleles fetched